DNAAF1 (dynein axonemal assembly factor 1) - Rat Genome Database

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Gene: DNAAF1 (dynein axonemal assembly factor 1) Homo sapiens
Analyze
Symbol: DNAAF1
Name: dynein axonemal assembly factor 1
RGD ID: 1606172
HGNC Page HGNC:30539
Description: Enables dynein complex binding activity. Involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Located in several cellular components, including axoneme; cytosol; and nuclear speck. Implicated in primary ciliary dyskinesia 13.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CILD13; DAU1; DKFZp434A119; dynein (axonemal) assembly factor 1; dynein assembly factor 1, axonemal; dynein, axonemal, assembly factor 1; FLJ25330; leucine rich repeat containing 50; leucine-rich repeat-containing protein 50; LRRC50; ODA7; outer row dynein assembly 7 homolog; swt; testicular tissue protein Li 110
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381684,145,308 - 84,177,920 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1684,145,287 - 84,178,767 (+)EnsemblGRCh38hg38GRCh38
GRCh371684,178,913 - 84,211,526 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,736,366 - 82,769,025 (+)NCBINCBI36Build 36hg18NCBI36
Celera1668,480,658 - 68,513,333 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1669,932,647 - 69,965,301 (+)NCBIHuRef
CHM1_11685,590,244 - 85,622,911 (+)NCBICHM1_1
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
dynein complex binding  (IBA,IEA,IMP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial arrangement  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal sputum  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent inner dynein arms  (IAGP)
Absent outer dynein arms  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Female infertility  (IAGP)
Hearing impairment  (IAGP)
Heterotaxy  (IAGP)
Hydrocephalus  (IAGP)
Immotile cilia  (IAGP)
Infertility  (IAGP)
Intestinal malrotation  (IAGP)
Lithoptysis  (IAGP)
Male infertility  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent sinusitis  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Rod-cone dystrophy  (IAGP)
Situs inversus totalis  (IAGP)
Transposition of the great arteries  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18029348   PMID:18385425   PMID:19944400   PMID:19944405   PMID:20301301   PMID:21873635   PMID:23872636   PMID:27173435  
PMID:27543293   PMID:27996046   PMID:29228333   PMID:29987050   PMID:30561431   PMID:30939186   PMID:31182584   PMID:32393512   PMID:38113892  


Genomics

Comparative Map Data
DNAAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381684,145,308 - 84,177,920 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1684,145,287 - 84,178,767 (+)EnsemblGRCh38hg38GRCh38
GRCh371684,178,913 - 84,211,526 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,736,366 - 82,769,025 (+)NCBINCBI36Build 36hg18NCBI36
Celera1668,480,658 - 68,513,333 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1669,932,647 - 69,965,301 (+)NCBIHuRef
CHM1_11685,590,244 - 85,622,911 (+)NCBICHM1_1
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBIT2T-CHM13v2.0
Dnaaf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,301,974 - 120,325,193 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8120,301,974 - 120,325,193 (+)EnsemblGRCm39 Ensembl
GRCm388119,575,235 - 119,598,454 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,575,235 - 119,598,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv378122,099,135 - 122,122,354 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368122,461,212 - 122,484,431 (+)NCBIMGSCv36mm8
Celera8123,792,687 - 123,815,934 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map867.98NCBI
Dnaaf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81964,532,859 - 64,560,942 (+)NCBIGRCr8
mRatBN7.21947,624,534 - 47,652,314 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1947,624,181 - 47,652,313 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1954,426,330 - 54,446,664 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01955,107,213 - 55,127,282 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01957,320,678 - 57,340,793 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01952,217,427 - 52,245,930 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1952,217,984 - 52,245,929 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01962,966,204 - 62,994,144 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,821,884 - 49,842,234 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11949,826,764 - 49,847,114 (+)NCBI
Celera1946,891,007 - 46,911,375 (+)NCBICelera
Cytogenetic Map19q12NCBI
Dnaaf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955564132,760 - 149,399 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955564132,497 - 149,399 (-)NCBIChiLan1.0ChiLan1.0
DNAAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21893,891,995 - 93,926,562 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11699,809,144 - 99,842,902 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01664,810,498 - 64,843,705 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11684,153,949 - 84,184,991 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1684,154,130 - 84,184,914 (+)Ensemblpanpan1.1panPan2
DNAAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1568,184,532 - 68,205,651 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl568,184,532 - 68,205,656 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha568,198,602 - 68,219,645 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0568,482,202 - 68,503,551 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl568,482,202 - 68,503,557 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1568,430,068 - 68,451,328 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0568,266,559 - 68,287,805 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0568,682,282 - 68,703,584 (-)NCBIUU_Cfam_GSD_1.0
Dnaaf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934927,903,299 - 27,920,183 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366413,657,058 - 3,673,729 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366413,656,331 - 3,674,907 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl64,457,291 - 4,479,828 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.164,457,283 - 4,483,641 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.265,038,956 - 5,061,559 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNAAF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,554,454 - 69,586,476 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl569,554,578 - 69,586,365 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660476,167,981 - 6,201,533 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnaaf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247463,412,888 - 3,441,710 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAAF1
516 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_178452.6(DNAAF1):c.1814dup (p.Asn605fs) duplication Primary ciliary dyskinesia [RCV000543582] Chr16:84176045..84176046 [GRCh38]
Chr16:84209651..84209652 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=) single nucleotide variant Primary ciliary dyskinesia [RCV001430898] Chr16:84145554 [GRCh38]
Chr16:84179159 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs) duplication Primary ciliary dyskinesia 13 [RCV000000290]|Primary ciliary dyskinesia [RCV000532330] Chr16:84154730..84154731 [GRCh38]
Chr16:84188335..84188336 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) single nucleotide variant DNAAF1-related condition [RCV003935744]|Primary ciliary dyskinesia 13 [RCV001118707]|Primary ciliary dyskinesia [RCV000629573] Chr16:84177742 [GRCh38]
Chr16:84211348 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000723154] Chr16:84145443 [GRCh38]
Chr16:84179048 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.715del (p.Ser239fs) deletion Primary ciliary dyskinesia [RCV000550801] Chr16:84155723 [GRCh38]
Chr16:84189328 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000000288]|Primary ciliary dyskinesia [RCV000556400] Chr16:84159744 [GRCh38]
Chr16:84193349 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000000289]|Primary ciliary dyskinesia [RCV001063639] Chr16:84159725 [GRCh38]
Chr16:84193330 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) single nucleotide variant Kartagener syndrome [RCV000190914]|Primary ciliary dyskinesia 13 [RCV000000291] Chr16:84154748 [GRCh38]
Chr16:84188353 [GRCh37]
Chr16:16q24.1		 pathogenic|not provided
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:84081930-85474903)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|See cases [RCV000052019] Chr16:84081930..85474903 [GRCh38]
Chr16:84115535..85508509 [GRCh37]
Chr16:82673036..84066010 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
NM_178452.6(DNAAF1):c.1359G>A (p.Val453=) single nucleotide variant Primary ciliary dyskinesia [RCV000233470] Chr16:84170187 [GRCh38]
Chr16:84203793 [GRCh37]
Chr16:82761294 [NCBI36]
Chr16:16q24.1		 likely benign|uncertain significance|not provided
NM_178452.4(DNAAF1):c.124+511C>A single nucleotide variant Lung cancer [RCV000100297] Chr16:84146075 [GRCh38]
Chr16:84179680 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1196C>T (p.Pro399Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000660381] Chr16:84170024 [GRCh38]
Chr16:84203630 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) duplication Kartagener syndrome [RCV000190867]|Primary ciliary dyskinesia 13 [RCV000000287]|Primary ciliary dyskinesia [RCV003534298] Chr16:84170172..84170173 [GRCh38]
Chr16:84203778..84203779 [GRCh37]
Chr16:16q24.1		 pathogenic|not provided
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
NM_178452.6(DNAAF1):c.124+1536_353-2102del deletion Primary ciliary dyskinesia 13 [RCV000055685] Chr16:84147095..84152470 [GRCh38]
Chr16:84180700..84186075 [GRCh37]
Chr16:16q24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 copy number gain See cases [RCV000135758] Chr16:83878992..84908120 [GRCh38]
Chr16:83912597..84941726 [GRCh37]
Chr16:82470098..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3 copy number gain See cases [RCV000136480] Chr16:84063406..84404889 [GRCh38]
Chr16:84097011..84438495 [GRCh37]
Chr16:82654512..82995996 [NCBI36]
Chr16:16q23.3-24.1		 benign
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
NM_178452.6(DNAAF1):c.353-18G>A single nucleotide variant Primary ciliary dyskinesia [RCV002060208]|not provided [RCV000514425] Chr16:84154559 [GRCh38]
Chr16:84188164 [GRCh37]
Chr16:16q24.1		 benign|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 copy number gain See cases [RCV000140831] Chr16:83763804..84276472 [GRCh38]
Chr16:83797409..84310078 [GRCh37]
Chr16:82354910..82867579 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
NM_178452.6(DNAAF1):c.864-17_864-14del deletion Primary ciliary dyskinesia [RCV002053892]|not specified [RCV000156749] Chr16:84165763..84165766 [GRCh38]
Chr16:84199369..84199372 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.228C>T (p.His76=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094414]|Primary ciliary dyskinesia [RCV000204630]|not provided [RCV001705963]|not specified [RCV000150411] Chr16:84149110 [GRCh38]
Chr16:84182715 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.4(DNAAF1):c.(?_-181)_(*77_?)del deletion Primary ciliary dyskinesia [RCV000150412] Chr16:84178865..84211524 [GRCh37]
Chr16:16q23.3-24.1		 pathogenic
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094437]|Primary ciliary dyskinesia [RCV000206437]|not specified [RCV000150413] Chr16:84159713 [GRCh38]
Chr16:84193318 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094253]|Primary ciliary dyskinesia [RCV000297161]|not provided [RCV001705964]|not specified [RCV000150414] Chr16:84165838 [GRCh38]
Chr16:84199444 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.1698+7G>T single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094262]|Primary ciliary dyskinesia [RCV000395488]|not provided [RCV001705965]|not specified [RCV000150415] Chr16:84174729 [GRCh38]
Chr16:84208335 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000989645]|Primary ciliary dyskinesia [RCV000203723]|not provided [RCV001723710]|not specified [RCV000150416] Chr16:84176003 [GRCh38]
Chr16:84209609 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094254]|Primary ciliary dyskinesia [RCV000361291]|not provided [RCV001706032]|not specified [RCV000155480] Chr16:84165907 [GRCh38]
Chr16:84199513 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094435]|Primary ciliary dyskinesia [RCV000232041]|not provided [RCV000153154] Chr16:84154770 [GRCh38]
Chr16:84188375 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) single nucleotide variant DNAAF1-related condition [RCV003967448]|Inborn genetic diseases [RCV002516828]|Primary ciliary dyskinesia [RCV000476460]|not provided [RCV000180709] Chr16:84172263 [GRCh38]
Chr16:84205869 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094260]|Primary ciliary dyskinesia [RCV000403609]|not provided [RCV002244736]|not specified [RCV000311050] Chr16:84172298 [GRCh38]
Chr16:84205904 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.5(DNAAF1):c.1306_1307ins156 insertion Primary ciliary dyskinesia [RCV000195618] Chr16:84170134..84170135 [GRCh38]
Chr16:84203740..84203741 [GRCh37]
Chr16:16q24.1		 pathogenic|uncertain significance
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) single nucleotide variant DNAAF1-related condition [RCV003977549]|Primary ciliary dyskinesia 13 [RCV001120255]|Primary ciliary dyskinesia [RCV000197156]|not provided [RCV002515467]|not specified [RCV001195228] Chr16:84170182 [GRCh38]
Chr16:84203788 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000200230]|not specified [RCV000243629] Chr16:84145552 [GRCh38]
Chr16:84179157 [GRCh37]
Chr16:16q24.1		 likely pathogenic|benign
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002494532]|Primary ciliary dyskinesia [RCV000204720] Chr16:84170205 [GRCh38]
Chr16:84203811 [GRCh37]
Chr16:16q24.1		 benign|likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094306]|Primary ciliary dyskinesia [RCV000371127]|not provided [RCV001706222]|not specified [RCV000219884] Chr16:84176082 [GRCh38]
Chr16:84209688 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000629577]|not specified [RCV000220010] Chr16:84170327 [GRCh38]
Chr16:84203933 [GRCh37]
Chr16:16q24.1		 benign|likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094296]|Primary ciliary dyskinesia [RCV000296406]|not provided [RCV001706219]|not specified [RCV000215842] Chr16:84170006 [GRCh38]
Chr16:84203612 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000611118]|Primary ciliary dyskinesia [RCV000387263]|not provided [RCV001706220]|not specified [RCV000220947] Chr16:84170124 [GRCh38]
Chr16:84203730 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000813165]|not specified [RCV000220957] Chr16:84176222 [GRCh38]
Chr16:84209828 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094441]|Primary ciliary dyskinesia [RCV000298193]|not provided [RCV001540474]|not specified [RCV000216262] Chr16:84170333 [GRCh38]
Chr16:84203939 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094295]|Primary ciliary dyskinesia [RCV000326639]|not provided [RCV001706218]|not specified [RCV000222721] Chr16:84169989 [GRCh38]
Chr16:84203595 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094293]|Primary ciliary dyskinesia [RCV000384826]|not provided [RCV001706217]|not specified [RCV000219088] Chr16:84169905 [GRCh38]
Chr16:84203511 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094423]|Primary ciliary dyskinesia [RCV000292984]|not provided [RCV001706221]|not specified [RCV000223221] Chr16:84170131 [GRCh38]
Chr16:84203737 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.1031-5A>T single nucleotide variant Primary ciliary dyskinesia 13 [RCV001115555]|Primary ciliary dyskinesia [RCV000228003]|not provided [RCV001529164]|not specified [RCV000249100] Chr16:84169854 [GRCh38]
Chr16:84203460 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120653]|Primary ciliary dyskinesia [RCV000228069]|not specified [RCV000246249] Chr16:84177797 [GRCh38]
Chr16:84211403 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=) single nucleotide variant Primary ciliary dyskinesia [RCV000230515] Chr16:84177772 [GRCh38]
Chr16:84211378 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120254]|Primary ciliary dyskinesia [RCV000230555]|not specified [RCV000245879] Chr16:84170178 [GRCh38]
Chr16:84203784 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120651]|Primary ciliary dyskinesia [RCV000228813] Chr16:84177745 [GRCh38]
Chr16:84211351 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1698+1G>A single nucleotide variant DNAAF1-related condition [RCV003919989]|Heterotaxy [RCV001731543]|Primary ciliary dyskinesia 13 [RCV000778482]|Primary ciliary dyskinesia [RCV000230981]|not provided [RCV001553061]|not specified [RCV000825066] Chr16:84174723 [GRCh38]
Chr16:84208329 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic|benign|uncertain significance
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000764083]|Primary ciliary dyskinesia [RCV000233776] Chr16:84155627 [GRCh38]
Chr16:84189232 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000234224] Chr16:84177791 [GRCh38]
Chr16:84211397 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000233863] Chr16:84149073 [GRCh38]
Chr16:84182678 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) single nucleotide variant DNAAF1-related condition [RCV003977694]|Primary ciliary dyskinesia 13 [RCV002500826]|Primary ciliary dyskinesia [RCV002401914] Chr16:84159701 [GRCh38]
Chr16:84193306 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) single nucleotide variant DNAAF1-related condition [RCV003967671]|Primary ciliary dyskinesia 13 [RCV001094440]|Primary ciliary dyskinesia [RCV000227306] Chr16:84170323 [GRCh38]
Chr16:84203929 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000547055] Chr16:84150317 [GRCh38]
Chr16:84183922 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) deletion Primary ciliary dyskinesia 13 [RCV002497046]|Primary ciliary dyskinesia [RCV000547333] Chr16:84165931 [GRCh38]
Chr16:84199537 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000529395] Chr16:84170122 [GRCh38]
Chr16:84203728 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094436]|Primary ciliary dyskinesia [RCV000300839]|not specified [RCV000243692] Chr16:84155693 [GRCh38]
Chr16:84189298 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000629558]|not specified [RCV000243888] Chr16:84176054 [GRCh38]
Chr16:84209660 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001116985]|Primary ciliary dyskinesia [RCV000460139]|not specified [RCV000248811] Chr16:84170055 [GRCh38]
Chr16:84203661 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.2065+9G>C single nucleotide variant not specified [RCV000251268] Chr16:84176308 [GRCh38]
Chr16:84209914 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=) single nucleotide variant Primary ciliary dyskinesia [RCV000865982]|not specified [RCV000241562] Chr16:84154656 [GRCh38]
Chr16:84188261 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+15G>A single nucleotide variant Primary ciliary dyskinesia [RCV002058456]|not specified [RCV000244126] Chr16:84165964 [GRCh38]
Chr16:84199570 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.352+30G>A single nucleotide variant not provided [RCV001636835]|not specified [RCV000251464] Chr16:84150372 [GRCh38]
Chr16:84183977 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1989C>G (p.Pro663=) single nucleotide variant not specified [RCV000253919] Chr16:84176223 [GRCh38]
Chr16:84209829 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.352+17G>C single nucleotide variant Primary ciliary dyskinesia 13 [RCV003114432]|Primary ciliary dyskinesia [RCV002058458]|not specified [RCV000246723] Chr16:84150359 [GRCh38]
Chr16:84183964 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000861555]|not provided [RCV002285301]|not specified [RCV000251600] Chr16:84175952 [GRCh38]
Chr16:84209558 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002500937]|Primary ciliary dyskinesia [RCV000629637]|not specified [RCV000241927] Chr16:84150293 [GRCh38]
Chr16:84183898 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120462]|Primary ciliary dyskinesia [RCV000470118]|not specified [RCV000246862] Chr16:84155744 [GRCh38]
Chr16:84189349 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_001243156.2(TAF1C):c.*1064G>A single nucleotide variant Primary ciliary dyskinesia 13 [RCV000392225]|not provided [RCV001640586]|not specified [RCV000244644] Chr16:84177877 [GRCh38]
Chr16:84211483 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.574+27C>G single nucleotide variant not provided [RCV001675766]|not specified [RCV000251916] Chr16:84154825 [GRCh38]
Chr16:84188430 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000313239]|Primary ciliary dyskinesia [RCV001443438]|not specified [RCV000247163] Chr16:84154731 [GRCh38]
Chr16:84188336 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1030+14C>T single nucleotide variant Primary ciliary dyskinesia 13 [RCV000321830]|Primary ciliary dyskinesia [RCV002058455]|not provided [RCV002225572]|not specified [RCV000252119] Chr16:84165963 [GRCh38]
Chr16:84199569 [GRCh37]
Chr16:16q24.1		 benign|likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1197G>A (p.Pro399=) single nucleotide variant Primary ciliary dyskinesia [RCV000864202]|not provided [RCV003422185]|not specified [RCV000244855] Chr16:84170025 [GRCh38]
Chr16:84203631 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=) single nucleotide variant Primary ciliary dyskinesia [RCV000869452]|not specified [RCV000242701] Chr16:84170145 [GRCh38]
Chr16:84203751 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1699-41T>C single nucleotide variant not provided [RCV001711841]|not specified [RCV000247671] Chr16:84175892 [GRCh38]
Chr16:84209498 [GRCh37]
Chr16:16q24.1		 benign
NM_001243156.2(TAF1C):c.*1082A>G single nucleotide variant Primary ciliary dyskinesia 13 [RCV000343172]|not provided [RCV001582891]|not specified [RCV000252615] Chr16:84177859 [GRCh38]
Chr16:84211465 [GRCh37]
Chr16:16q24.1		 benign|likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120252]|Primary ciliary dyskinesia [RCV000477474]|not specified [RCV000245365] Chr16:84170127 [GRCh38]
Chr16:84203733 [GRCh37]
Chr16:16q24.1		 benign|likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001115646]|Primary ciliary dyskinesia [RCV000461284]|not specified [RCV000252726] Chr16:84172347 [GRCh38]
Chr16:84205953 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120652]|Primary ciliary dyskinesia [RCV000461724]|not specified [RCV000243076] Chr16:84177770 [GRCh38]
Chr16:84211376 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.1529-17TTG[2] microsatellite Primary ciliary dyskinesia [RCV002058457]|not specified [RCV000247968] Chr16:84172243..84172245 [GRCh38]
Chr16:84205849..84205851 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.-19C>T single nucleotide variant not specified [RCV000247982] Chr16:84145422 [GRCh38]
Chr16:84179027 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120554]|Primary ciliary dyskinesia [RCV000476717]|not specified [RCV000250607] Chr16:84170324 [GRCh38]
Chr16:84203930 [GRCh37]
Chr16:16q24.1		 benign|likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094304]|Primary ciliary dyskinesia [RCV000365426]|not provided [RCV003417861]|not specified [RCV000243414] Chr16:84175984 [GRCh38]
Chr16:84209590 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094294]|Primary ciliary dyskinesia [RCV000271707]|not provided [RCV002275012] Chr16:84169911 [GRCh38]
Chr16:84203517 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.842G>T (p.Arg281Ile) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000260939] Chr16:84159775 [GRCh38]
Chr16:84193380 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn) single nucleotide variant Inborn genetic diseases [RCV002521069]|Primary ciliary dyskinesia 13 [RCV000343675] Chr16:84150275 [GRCh38]
Chr16:84183880 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1069G>A (p.Ala357Thr) single nucleotide variant not provided [RCV000725217] Chr16:84169897 [GRCh38]
Chr16:84203503 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.-100G>A single nucleotide variant Primary ciliary dyskinesia 13 [RCV000283015] Chr16:84145341 [GRCh38]
Chr16:84178946 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094305]|Primary ciliary dyskinesia [RCV000326044] Chr16:84176072 [GRCh38]
Chr16:84209678 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.5(DNAAF1):c.-172G>A single nucleotide variant Primary ciliary dyskinesia [RCV000372231]|not provided [RCV003418008] Chr16:84145269 [GRCh38]
Chr16:84178874 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000373165]|Primary ciliary dyskinesia [RCV002418172] Chr16:84177733 [GRCh38]
Chr16:84211339 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094297]|Primary ciliary dyskinesia [RCV000351290]|not specified [RCV000591206] Chr16:84170073 [GRCh38]
Chr16:84203679 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.-128G>C single nucleotide variant Primary ciliary dyskinesia 13 [RCV000378019] Chr16:84145313 [GRCh38]
Chr16:84178918 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000404819] Chr16:84150302 [GRCh38]
Chr16:84183907 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000381310]|Primary ciliary dyskinesia [RCV002061207] Chr16:84170001 [GRCh38]
Chr16:84203607 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) single nucleotide variant DNAAF1-related condition [RCV003922356]|Primary ciliary dyskinesia 13 [RCV001094261]|Primary ciliary dyskinesia [RCV000358696]|not provided [RCV001770258] Chr16:84174688 [GRCh38]
Chr16:84208294 [GRCh37]
Chr16:16q24.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.995A>C (p.Glu332Ala) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000266787] Chr16:84165914 [GRCh38]
Chr16:84199520 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_001243156.2(TAF1C):c.*1084A>G single nucleotide variant Primary ciliary dyskinesia 13 [RCV000278690] Chr16:84177857 [GRCh38]
Chr16:84211463 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000338642]|Primary ciliary dyskinesia [RCV002061208] Chr16:84170251 [GRCh38]
Chr16:84203857 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_001243156.2(TAF1C):c.*1033A>G single nucleotide variant Primary ciliary dyskinesia 13 [RCV000339757] Chr16:84177908 [GRCh38]
Chr16:84211514 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=) single nucleotide variant Primary ciliary dyskinesia [RCV001084792]|not provided [RCV000368296] Chr16:84155743 [GRCh38]
Chr16:84189348 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178452.5(DNAAF1):c.-146G>C single nucleotide variant Primary ciliary dyskinesia [RCV000268230] Chr16:84145295 [GRCh38]
Chr16:84178900 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002001765] Chr16:84170080 [GRCh38]
Chr16:84203686 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000304007] Chr16:84172304 [GRCh38]
Chr16:84205910 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.-83dup duplication Primary ciliary dyskinesia [RCV000347409] Chr16:84145357..84145358 [GRCh38]
Chr16:84178962..84178963 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000383354] Chr16:84149063 [GRCh38]
Chr16:84182668 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) duplication Primary ciliary dyskinesia 13 [RCV002487417]|Primary ciliary dyskinesia [RCV000318627]|not provided [RCV003227740] Chr16:84176293..84176294 [GRCh38]
Chr16:84209899..84209900 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1528+13G>A single nucleotide variant Primary ciliary dyskinesia 13 [RCV000334408] Chr16:84170369 [GRCh38]
Chr16:84203975 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.514C>G (p.Leu172Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000349432] Chr16:84154738 [GRCh38]
Chr16:84188343 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_001243156.2(TAF1C):c.*1055_*1058del deletion Primary ciliary dyskinesia [RCV000284723] Chr16:84177883..84177886 [GRCh38]
Chr16:84211489..84211492 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.5(DNAAF1):c.-141G>A single nucleotide variant Primary ciliary dyskinesia [RCV000323435] Chr16:84145300 [GRCh38]
Chr16:84178905 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1728C>T (p.Ile576=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000310802] Chr16:84175962 [GRCh38]
Chr16:84209568 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.934_940del (p.Arg312fs) deletion Primary ciliary dyskinesia [RCV000629267] Chr16:84165849..84165855 [GRCh38]
Chr16:84199455..84199461 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met) single nucleotide variant Primary ciliary dyskinesia [RCV000629301] Chr16:84172346 [GRCh38]
Chr16:84205952 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000629304] Chr16:84154796 [GRCh38]
Chr16:84188401 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000629314] Chr16:84145472 [GRCh38]
Chr16:84179077 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120463]|Primary ciliary dyskinesia [RCV003537478] Chr16:84159700 [GRCh38]
Chr16:84193305 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000629481] Chr16:84159682 [GRCh38]
Chr16:84193287 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=) single nucleotide variant Primary ciliary dyskinesia [RCV000629549] Chr16:84170148 [GRCh38]
Chr16:84203754 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala) single nucleotide variant DNAAF1-related condition [RCV003928045]|Primary ciliary dyskinesia [RCV000629563] Chr16:84145553 [GRCh38]
Chr16:84179158 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000629473] Chr16:84154585 [GRCh38]
Chr16:84188190 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000629477] Chr16:84159745 [GRCh38]
Chr16:84193350 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000629505] Chr16:84145555 [GRCh38]
Chr16:84179160 [GRCh37]
Chr16:16q24.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.684G>C (p.Ser228=) single nucleotide variant Primary ciliary dyskinesia [RCV000629567] Chr16:84155692 [GRCh38]
Chr16:84189297 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs) microsatellite Primary ciliary dyskinesia [RCV000539837] Chr16:84149027..84149028 [GRCh38]
Chr16:84182632..84182633 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del) microsatellite Primary ciliary dyskinesia [RCV000557467] Chr16:84154691..84154693 [GRCh38]
Chr16:84188296..84188298 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000558263]|not specified [RCV000825328] Chr16:84176224 [GRCh38]
Chr16:84209830 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000796298]|not specified [RCV000413598] Chr16:84177783 [GRCh38]
Chr16:84211389 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:84115509-84214129)x1 copy number loss See cases [RCV000448516] Chr16:84115509..84214129 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84098379-84402295)x3 copy number gain See cases [RCV000448558] Chr16:84098379..84402295 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000462785] Chr16:84170218 [GRCh38]
Chr16:84203824 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp) single nucleotide variant Primary ciliary dyskinesia [RCV000459250] Chr16:84176086 [GRCh38]
Chr16:84209692 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys) single nucleotide variant Primary ciliary dyskinesia [RCV000467627] Chr16:84154618 [GRCh38]
Chr16:84188223 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120555]|Primary ciliary dyskinesia [RCV000457026] Chr16:84170334 [GRCh38]
Chr16:84203940 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del) deletion Primary ciliary dyskinesia [RCV000471941] Chr16:84170058..84170135 [GRCh38]
Chr16:84203664..84203741 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000461161] Chr16:84155628 [GRCh38]
Chr16:84189233 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000468722] Chr16:84149072 [GRCh38]
Chr16:84182677 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_001243156.2(TAF1C):c.1645T>A (p.Leu549Met) single nucleotide variant not specified [RCV000455673] Chr16:84179828 [GRCh38]
Chr16:84213434 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001333097]|Primary ciliary dyskinesia [RCV000472616]|not provided [RCV000727276]|not specified [RCV000454591] Chr16:84170033 [GRCh38]
Chr16:84203639 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120253]|Primary ciliary dyskinesia [RCV000472670] Chr16:84170128 [GRCh38]
Chr16:84203734 [GRCh37]
Chr16:16q24.1		 benign|uncertain significance
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001115556]|Primary ciliary dyskinesia [RCV000477202] Chr16:84169861 [GRCh38]
Chr16:84203467 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1 copy number loss See cases [RCV000510184] Chr16:83926471..84215425 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_178452.6(DNAAF1):c.1645-2A>C single nucleotide variant Primary ciliary dyskinesia [RCV000554590] Chr16:84174667 [GRCh38]
Chr16:84208273 [GRCh37]
Chr16:16q24.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000540619] Chr16:84170068 [GRCh38]
Chr16:84203674 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1990A>G (p.Thr664Ala) single nucleotide variant Inborn genetic diseases [RCV003288749] Chr16:84176224 [GRCh38]
Chr16:84209830 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.863G>C (p.Arg288Thr) single nucleotide variant not provided [RCV000595787] Chr16:84159796 [GRCh38]
Chr16:84193401 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_178452.6(DNAAF1):c.1849G>A (p.Ala617Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003306358] Chr16:84176083 [GRCh38]
Chr16:84209689 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=) single nucleotide variant Primary ciliary dyskinesia [RCV003306359] Chr16:84176004 [GRCh38]
Chr16:84209610 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val) single nucleotide variant Primary ciliary dyskinesia [RCV000555632] Chr16:84170092 [GRCh38]
Chr16:84203698 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002289882]|Primary ciliary dyskinesia [RCV000629419]|not provided [RCV000585300] Chr16:84159698 [GRCh38]
Chr16:84193303 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000629352] Chr16:84175946 [GRCh38]
Chr16:84209552 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=) single nucleotide variant DNAAF1-related condition [RCV003965316]|Primary ciliary dyskinesia [RCV000629620] Chr16:84150305 [GRCh38]
Chr16:84183910 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val) single nucleotide variant Primary ciliary dyskinesia [RCV000629392] Chr16:84176050 [GRCh38]
Chr16:84209656 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val) single nucleotide variant Primary ciliary dyskinesia [RCV000629422] Chr16:84154756 [GRCh38]
Chr16:84188361 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000699714] Chr16:84177777 [GRCh38]
Chr16:84211383 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002485587]|Primary ciliary dyskinesia [RCV000685423] Chr16:84176182 [GRCh38]
Chr16:84209788 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3 copy number gain not provided [RCV000683852] Chr16:84111320..84485022 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000699250] Chr16:84170146 [GRCh38]
Chr16:84203752 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000702214] Chr16:84165856 [GRCh38]
Chr16:84199462 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2065+1del deletion Primary ciliary dyskinesia [RCV000690821] Chr16:84176298 [GRCh38]
Chr16:84209904 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met) single nucleotide variant Primary ciliary dyskinesia [RCV000688865] Chr16:84150322 [GRCh38]
Chr16:84183927 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000700998] Chr16:84155626 [GRCh38]
Chr16:84189231 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val) single nucleotide variant Primary ciliary dyskinesia [RCV000702471] Chr16:84155702 [GRCh38]
Chr16:84189307 [GRCh37]
Chr16:16q24.1		 likely pathogenic
NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000690583] Chr16:84176140 [GRCh38]
Chr16:84209746 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val) single nucleotide variant Primary ciliary dyskinesia [RCV000696192] Chr16:84155612 [GRCh38]
Chr16:84189217 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_178452.6(DNAAF1):c.261-54G>A single nucleotide variant not provided [RCV001540659] Chr16:84150197 [GRCh38]
Chr16:84183802 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1030+311C>T single nucleotide variant not provided [RCV001644450] Chr16:84166260 [GRCh38]
Chr16:84199866 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1699-185T>A single nucleotide variant not provided [RCV001645894] Chr16:84175748 [GRCh38]
Chr16:84209354 [GRCh37]
Chr16:16q24.1		 benign
NM_001243156.2(TAF1C):c.*812T>G single nucleotide variant not provided [RCV001678937] Chr16:84178129 [GRCh38]
Chr16:84211735 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.417T>C (p.Asn139=) single nucleotide variant not provided [RCV000874213] Chr16:84154641 [GRCh38]
Chr16:84188246 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1496del (p.Pro499fs) deletion Primary ciliary dyskinesia 13 [RCV001594421] Chr16:84170321 [GRCh38]
Chr16:84203927 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=) single nucleotide variant Primary ciliary dyskinesia [RCV001494771] Chr16:84174689 [GRCh38]
Chr16:84208295 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn) single nucleotide variant DNAAF1-related condition [RCV003908181]|Primary ciliary dyskinesia [RCV000862883] Chr16:84149023 [GRCh38]
Chr16:84182628 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120460]|Primary ciliary dyskinesia [RCV002538919] Chr16:84155692 [GRCh38]
Chr16:84189297 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_031463.5(HSDL1):c.-69+38T>C single nucleotide variant not provided [RCV001693139] Chr16:84145042 [GRCh38]
Chr16:84178647 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1528+293_1528+294dup duplication not provided [RCV001690833] Chr16:84170647..84170648 [GRCh38]
Chr16:84204253..84204254 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=) single nucleotide variant Primary ciliary dyskinesia [RCV001413135] Chr16:84145560 [GRCh38]
Chr16:84179165 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1529-188T>G single nucleotide variant not provided [RCV001668083] Chr16:84172072 [GRCh38]
Chr16:84205678 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1528+223C>T single nucleotide variant not provided [RCV001707148] Chr16:84170579 [GRCh38]
Chr16:84204185 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001580347] Chr16:84176191 [GRCh38]
Chr16:84209797 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001066149] Chr16:84172373 [GRCh38]
Chr16:84205979 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1030+112_1030+115del deletion not provided [RCV001691408] Chr16:84166038..84166041 [GRCh38]
Chr16:84199644..84199647 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.260+219C>G single nucleotide variant not provided [RCV001667774] Chr16:84149361 [GRCh38]
Chr16:84182966 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.997G>A (p.Glu333Lys) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001115553] Chr16:84165916 [GRCh38]
Chr16:84199522 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1031-11T>G single nucleotide variant Primary ciliary dyskinesia 13 [RCV001115554]|Primary ciliary dyskinesia [RCV003537477] Chr16:84169848 [GRCh38]
Chr16:84203454 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1031-219T>G single nucleotide variant not provided [RCV001648581] Chr16:84169640 [GRCh38]
Chr16:84203246 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q23.3-24.1(chr16:84145386-84724295)x3 copy number gain not provided [RCV000751788] Chr16:84145386..84724295 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1529-140G>A single nucleotide variant not provided [RCV001645626] Chr16:84172120 [GRCh38]
Chr16:84205726 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001062485] Chr16:84145513 [GRCh38]
Chr16:84179118 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val) single nucleotide variant Primary ciliary dyskinesia [RCV001039111] Chr16:84165791 [GRCh38]
Chr16:84199397 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001048882] Chr16:84172320 [GRCh38]
Chr16:84205926 [GRCh37]
Chr16:16q24.1		 uncertain significance
NC_000016.10:g.(?_84148987)_(84150362_?)del deletion Primary ciliary dyskinesia [RCV000821274] Chr16:84148987..84150362 [GRCh38]
Chr16:84182592..84183967 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=) single nucleotide variant Primary ciliary dyskinesia [RCV002538968] Chr16:84170301 [GRCh38]
Chr16:84203907 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=) single nucleotide variant Primary ciliary dyskinesia [RCV002363210] Chr16:84155713 [GRCh38]
Chr16:84189318 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1197G>T (p.Pro399=) single nucleotide variant Primary ciliary dyskinesia [RCV001501721] Chr16:84170025 [GRCh38]
Chr16:84203631 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1699-5A>C single nucleotide variant Primary ciliary dyskinesia [RCV002536220] Chr16:84175928 [GRCh38]
Chr16:84209534 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2106C>T (p.Val702=) single nucleotide variant Primary ciliary dyskinesia [RCV002536774] Chr16:84177769 [GRCh38]
Chr16:84211375 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=) single nucleotide variant Primary ciliary dyskinesia [RCV001425980] Chr16:84170280 [GRCh38]
Chr16:84203886 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2065+9G>A single nucleotide variant Primary ciliary dyskinesia [RCV001446484] Chr16:84176308 [GRCh38]
Chr16:84209914 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=) single nucleotide variant Primary ciliary dyskinesia [RCV001486274] Chr16:84155605 [GRCh38]
Chr16:84189210 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu) single nucleotide variant Inborn genetic diseases [RCV003248736]|Primary ciliary dyskinesia [RCV003534996] Chr16:84177828 [GRCh38]
Chr16:84211434 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000821017] Chr16:84176110 [GRCh38]
Chr16:84209716 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=) single nucleotide variant Primary ciliary dyskinesia [RCV000871294] Chr16:84176070 [GRCh38]
Chr16:84209676 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002487654]|Primary ciliary dyskinesia [RCV000793772] Chr16:84170087 [GRCh38]
Chr16:84203693 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) single nucleotide variant DNAAF1-related condition [RCV003920382]|Primary ciliary dyskinesia 13 [RCV001120165]|Primary ciliary dyskinesia [RCV000869608] Chr16:84154585 [GRCh38]
Chr16:84188190 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000824029]|not provided [RCV003424367] Chr16:84159727 [GRCh38]
Chr16:84193332 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000808113] Chr16:84149096 [GRCh38]
Chr16:84182701 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000791883] Chr16:84169868 [GRCh38]
Chr16:84203474 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000798896] Chr16:84165860 [GRCh38]
Chr16:84199466 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His) single nucleotide variant Primary ciliary dyskinesia [RCV000817205] Chr16:84154685 [GRCh38]
Chr16:84188290 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000802415] Chr16:84176246 [GRCh38]
Chr16:84209852 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000813996] Chr16:84159685 [GRCh38]
Chr16:84193290 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000792094] Chr16:84165849 [GRCh38]
Chr16:84199455 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000818699] Chr16:84149061 [GRCh38]
Chr16:84182666 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1644+6T>C single nucleotide variant Primary ciliary dyskinesia [RCV000792532] Chr16:84172381 [GRCh38]
Chr16:84205987 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2065+5G>A single nucleotide variant DNAAF1-related condition [RCV003908178]|Primary ciliary dyskinesia 13 [RCV001118706]|Primary ciliary dyskinesia [RCV000862548] Chr16:84176304 [GRCh38]
Chr16:84209910 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002507358]|Primary ciliary dyskinesia [RCV001212773]|not provided [RCV000788136] Chr16:84170015 [GRCh38]
Chr16:84203621 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000794753] Chr16:84150322 [GRCh38]
Chr16:84183927 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1528+11C>T single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120557]|Primary ciliary dyskinesia [RCV002069959] Chr16:84170367 [GRCh38]
Chr16:84203973 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) single nucleotide variant DNAAF1-related condition [RCV003945822]|Primary ciliary dyskinesia 13 [RCV001115647]|Primary ciliary dyskinesia [RCV001482693] Chr16:84175969 [GRCh38]
Chr16:84209575 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1 copy number loss not provided [RCV001006831] Chr16:83853228..84189313 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_178452.6(DNAAF1):c.1018_1019del (p.Gln341fs) microsatellite Primary ciliary dyskinesia [RCV001209289] Chr16:84165929..84165930 [GRCh38]
Chr16:84199535..84199536 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.359A>T (p.Asp120Val) single nucleotide variant Primary ciliary dyskinesia [RCV001210016] Chr16:84154583 [GRCh38]
Chr16:84188188 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001224599] Chr16:84176297 [GRCh38]
Chr16:84209903 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1484del (p.Pro495fs) deletion Primary ciliary dyskinesia [RCV001241098] Chr16:84170310 [GRCh38]
Chr16:84203916 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.863+307C>G single nucleotide variant not provided [RCV001544616] Chr16:84160103 [GRCh38]
Chr16:84193708 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2		 pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) single nucleotide variant Inborn genetic diseases [RCV002547478]|Primary ciliary dyskinesia [RCV001348531] Chr16:84177743 [GRCh38]
Chr16:84211349 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001312314] Chr16:84155613 [GRCh38]
Chr16:84189218 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV000616203]|Primary ciliary dyskinesia [RCV000270948]|not provided [RCV001541316]|not specified [RCV000150417] Chr16:84176028 [GRCh38]
Chr16:84209634 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094359]|Primary ciliary dyskinesia [RCV000276802]|not provided [RCV001540635]|not specified [RCV000150418] Chr16:84176132 [GRCh38]
Chr16:84209738 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094360]|Primary ciliary dyskinesia [RCV000331812]|not provided [RCV001705966]|not specified [RCV000150419] Chr16:84176209 [GRCh38]
Chr16:84209815 [GRCh37]
Chr16:16q24.1		 benign|likely benign
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094361]|Primary ciliary dyskinesia [RCV000386320]|not provided [RCV001705967]|not specified [RCV000150420] Chr16:84176210 [GRCh38]
Chr16:84209816 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001094362]|Primary ciliary dyskinesia [RCV000282240]|not provided [RCV001535052]|not specified [RCV000150421] Chr16:84176258 [GRCh38]
Chr16:84209864 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp) single nucleotide variant Inborn genetic diseases [RCV002519575]|Primary ciliary dyskinesia [RCV000200759] Chr16:84170019 [GRCh38]
Chr16:84203625 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2065+8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001501739] Chr16:84176307 [GRCh38]
Chr16:84209913 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
NM_178452.6(DNAAF1):c.863+6A>C single nucleotide variant Primary ciliary dyskinesia [RCV000629312] Chr16:84159802 [GRCh38]
Chr16:84193407 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120164]|Primary ciliary dyskinesia [RCV000629346] Chr16:84149105 [GRCh38]
Chr16:84182710 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1937del (p.Leu646fs) deletion Primary ciliary dyskinesia [RCV000629445] Chr16:84176171 [GRCh38]
Chr16:84209777 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys) single nucleotide variant Primary ciliary dyskinesia [RCV000629294] Chr16:84170053 [GRCh38]
Chr16:84203659 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) deletion DNAAF1-related condition [RCV003935743]|Primary ciliary dyskinesia 13 [RCV002492940]|Primary ciliary dyskinesia [RCV000629460] Chr16:84170124..84170146 [GRCh38]
Chr16:84203730..84203752 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+115del deletion not provided [RCV001698716] Chr16:84166038 [GRCh38]
Chr16:84199644 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.352+291del deletion not provided [RCV001638637] Chr16:84150617 [GRCh38]
Chr16:84184222 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1645-308A>T single nucleotide variant not provided [RCV001555208] Chr16:84174361 [GRCh38]
Chr16:84207967 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.574+332G>C single nucleotide variant not provided [RCV001560747] Chr16:84155130 [GRCh38]
Chr16:84188735 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1528+81T>A single nucleotide variant not provided [RCV001659125] Chr16:84170437 [GRCh38]
Chr16:84204043 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.261-216dup duplication not provided [RCV001598812] Chr16:84150024..84150025 [GRCh38]
Chr16:84183629..84183630 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.863+307C>T single nucleotide variant not provided [RCV001661130] Chr16:84160103 [GRCh38]
Chr16:84193708 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1528+236G>C single nucleotide variant not provided [RCV001611137] Chr16:84170592 [GRCh38]
Chr16:84204198 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.575-75G>A single nucleotide variant not provided [RCV001550979] Chr16:84155508 [GRCh38]
Chr16:84189113 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1528+295C>T single nucleotide variant not provided [RCV001691404] Chr16:84170651 [GRCh38]
Chr16:84204257 [GRCh37]
Chr16:16q24.1		 benign
NM_031463.5(HSDL1):c.-76G>C single nucleotide variant not provided [RCV001689305] Chr16:84145087 [GRCh38]
Chr16:84178692 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.863+239T>A single nucleotide variant not provided [RCV001669934] Chr16:84160035 [GRCh38]
Chr16:84193640 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.863+184del deletion not provided [RCV001710447] Chr16:84159974 [GRCh38]
Chr16:84193579 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1698+167T>C single nucleotide variant not provided [RCV001693398] Chr16:84174889 [GRCh38]
Chr16:84208495 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.598T>C (p.Leu200=) single nucleotide variant Primary ciliary dyskinesia [RCV000869343] Chr16:84155606 [GRCh38]
Chr16:84189211 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.742-6T>C single nucleotide variant Primary ciliary dyskinesia [RCV003647809] Chr16:84159669 [GRCh38]
Chr16:84193274 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=) single nucleotide variant Primary ciliary dyskinesia [RCV002416080]|not provided [RCV000876949] Chr16:84177829 [GRCh38]
Chr16:84211435 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.339T>C (p.Tyr113=) single nucleotide variant not provided [RCV000868147] Chr16:84150329 [GRCh38]
Chr16:84183934 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1375G>A (p.Asp459Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120256] Chr16:84170203 [GRCh38]
Chr16:84203809 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1528+4A>G single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120556] Chr16:84170360 [GRCh38]
Chr16:84203966 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1528+12G>A single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120558]|Primary ciliary dyskinesia [RCV002069960] Chr16:84170368 [GRCh38]
Chr16:84203974 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1699-9del deletion Primary ciliary dyskinesia [RCV001205718] Chr16:84175924 [GRCh38]
Chr16:84209530 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1098C>T (p.Pro366=) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001116984] Chr16:84169926 [GRCh38]
Chr16:84203532 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1747A>G (p.Ser583Gly) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001117072] Chr16:84175981 [GRCh38]
Chr16:84209587 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001117073]|Primary ciliary dyskinesia [RCV002556485] Chr16:84176081 [GRCh38]
Chr16:84209687 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser) single nucleotide variant Inborn genetic diseases [RCV002563818]|Primary ciliary dyskinesia [RCV001234986] Chr16:84176225 [GRCh38]
Chr16:84209831 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu) single nucleotide variant Inborn genetic diseases [RCV002563691]|Primary ciliary dyskinesia [RCV001227844] Chr16:84170000 [GRCh38]
Chr16:84203606 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001221754] Chr16:84176141 [GRCh38]
Chr16:84209747 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1528+2T>C single nucleotide variant not provided [RCV001579385] Chr16:84170358 [GRCh38]
Chr16:84203964 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
NC_000016.10:g.84145249G>A single nucleotide variant not provided [RCV001572330] Chr16:84145249 [GRCh38]
Chr16:84178854 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1528+295C>G single nucleotide variant not provided [RCV001621053] Chr16:84170651 [GRCh38]
Chr16:84204257 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.864-169G>T single nucleotide variant not provided [RCV001677633] Chr16:84165614 [GRCh38]
Chr16:84199220 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.2065+267T>G single nucleotide variant not provided [RCV001655041] Chr16:84176566 [GRCh38]
Chr16:84210172 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1030+260T>A single nucleotide variant not provided [RCV001595960] Chr16:84166209 [GRCh38]
Chr16:84199815 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.352+290_352+291dup duplication not provided [RCV001537586] Chr16:84150616..84150617 [GRCh38]
Chr16:84184221..84184222 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.353-292G>T single nucleotide variant not provided [RCV001656360] Chr16:84154285 [GRCh38]
Chr16:84187890 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.353-306T>C single nucleotide variant not provided [RCV001595521] Chr16:84154271 [GRCh38]
Chr16:84187876 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1030+105_1030+115del deletion not provided [RCV001689352] Chr16:84166038..84166048 [GRCh38]
Chr16:84199644..84199654 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1645-131C>G single nucleotide variant not provided [RCV001656409] Chr16:84174538 [GRCh38]
Chr16:84208144 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1698+114T>C single nucleotide variant not provided [RCV001714954] Chr16:84174836 [GRCh38]
Chr16:84208442 [GRCh37]
Chr16:16q24.1		 benign
NM_001243156.2(TAF1C):c.*829G>A single nucleotide variant not provided [RCV001635709] Chr16:84178112 [GRCh38]
Chr16:84211718 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1030+104_1030+115del deletion not provided [RCV001656591] Chr16:84166038..84166049 [GRCh38]
Chr16:84199644..84199655 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1030+62C>G single nucleotide variant not provided [RCV001654780] Chr16:84166011 [GRCh38]
Chr16:84199617 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120166]|Primary ciliary dyskinesia [RCV001048588] Chr16:84154586 [GRCh38]
Chr16:84188191 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2095G>A (p.Glu699Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001035416] Chr16:84177758 [GRCh38]
Chr16:84211364 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001118620] Chr16:84145505 [GRCh38]
Chr16:84179110 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120654]|Primary ciliary dyskinesia [RCV001050348] Chr16:84177818 [GRCh38]
Chr16:84211424 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1698+282A>T single nucleotide variant not provided [RCV001612866] Chr16:84175004 [GRCh38]
Chr16:84208610 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.574+172G>A single nucleotide variant not provided [RCV001694332] Chr16:84154970 [GRCh38]
Chr16:84188575 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1400C>A (p.Thr467Asn) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120257] Chr16:84170228 [GRCh38]
Chr16:84203834 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.864-290A>T single nucleotide variant not provided [RCV001684257] Chr16:84165493 [GRCh38]
Chr16:84199099 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1031-109T>G single nucleotide variant not provided [RCV001724626] Chr16:84169750 [GRCh38]
Chr16:84203356 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys) single nucleotide variant Primary ciliary dyskinesia [RCV001069241] Chr16:84154684 [GRCh38]
Chr16:84188289 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.863+159T>C single nucleotide variant not provided [RCV001648396] Chr16:84159955 [GRCh38]
Chr16:84193560 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1930A>T (p.Arg644Ter) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001594422] Chr16:84176164 [GRCh38]
Chr16:84209770 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.124+6G>A single nucleotide variant Primary ciliary dyskinesia [RCV001218444] Chr16:84145570 [GRCh38]
Chr16:84179175 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val) single nucleotide variant Primary ciliary dyskinesia [RCV001219783] Chr16:84170207 [GRCh38]
Chr16:84203813 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del) deletion Primary ciliary dyskinesia [RCV001041734] Chr16:84170214..84170291 [GRCh38]
Chr16:84203820..84203897 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.733C>T (p.Pro245Ser) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001120461]|not provided [RCV001311462] Chr16:84155741 [GRCh38]
Chr16:84189346 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001118621] Chr16:84145540 [GRCh38]
Chr16:84179145 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001118622] Chr16:84149031 [GRCh38]
Chr16:84182636 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001216049]|not provided [RCV001773481] Chr16:84165908 [GRCh38]
Chr16:84199514 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001219326] Chr16:84154706 [GRCh38]
Chr16:84188311 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001205364] Chr16:84155660 [GRCh38]
Chr16:84189265 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val) single nucleotide variant Primary ciliary dyskinesia [RCV001229865] Chr16:84170069 [GRCh38]
Chr16:84203675 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001118705]|Primary ciliary dyskinesia [RCV001040058] Chr16:84176228 [GRCh38]
Chr16:84209834 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001232436] Chr16:84145533 [GRCh38]
Chr16:84179138 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002484105]|Primary ciliary dyskinesia [RCV001204293] Chr16:84176087 [GRCh38]
Chr16:84209693 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=) single nucleotide variant Primary ciliary dyskinesia [RCV002568735] Chr16:84170103 [GRCh38]
Chr16:84203709 [GRCh37]
Chr16:16q24.1		 likely benign
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=) single nucleotide variant Primary ciliary dyskinesia [RCV001446107] Chr16:84169896 [GRCh38]
Chr16:84203502 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe) single nucleotide variant Primary ciliary dyskinesia [RCV001319960] Chr16:84175971 [GRCh38]
Chr16:84209577 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup) duplication Primary ciliary dyskinesia [RCV001319344] Chr16:84170134..84170135 [GRCh38]
Chr16:84203740..84203741 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001317860] Chr16:84177746 [GRCh38]
Chr16:84211352 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1512G>A (p.Leu504=) single nucleotide variant Primary ciliary dyskinesia [RCV001316002] Chr16:84170340 [GRCh38]
Chr16:84203946 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.261-3C>G single nucleotide variant not provided [RCV001355223] Chr16:84150248 [GRCh38]
Chr16:84183853 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met) single nucleotide variant Primary ciliary dyskinesia [RCV001343472] Chr16:84155636 [GRCh38]
Chr16:84189241 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.423A>G (p.Ile141Met) single nucleotide variant Primary ciliary dyskinesia 13 [RCV001333098] Chr16:84154647 [GRCh38]
Chr16:84188252 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) single nucleotide variant Primary ciliary dyskinesia [RCV001343715] Chr16:84172323 [GRCh38]
Chr16:84205929 [GRCh37]
Chr16:16q24.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup) duplication Primary ciliary dyskinesia [RCV001323151] Chr16:84170101..84170102 [GRCh38]
Chr16:84203707..84203708 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001340328] Chr16:84170305 [GRCh38]
Chr16:84203911 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His) single nucleotide variant Primary ciliary dyskinesia [RCV001367618] Chr16:84176188 [GRCh38]
Chr16:84209794 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001318102] Chr16:84172321 [GRCh38]
Chr16:84205927 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro) single nucleotide variant Primary ciliary dyskinesia [RCV001351281] Chr16:84154757 [GRCh38]
Chr16:84188362 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001315187] Chr16:84172268 [GRCh38]
Chr16:84205874 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1218G>A (p.Glu406=) single nucleotide variant Primary ciliary dyskinesia [RCV001475467] Chr16:84170046 [GRCh38]
Chr16:84203652 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001471625] Chr16:84165957 [GRCh38]
Chr16:84199563 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1529-175G>A single nucleotide variant not provided [RCV001539413] Chr16:84172085 [GRCh38]
Chr16:84205691 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.742-110A>C single nucleotide variant not provided [RCV001539305] Chr16:84159565 [GRCh38]
Chr16:84193170 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001381191] Chr16:84165841 [GRCh38]
Chr16:84199447 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1698+120del deletion not provided [RCV001694692] Chr16:84174841 [GRCh38]
Chr16:84208447 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.742-291T>G single nucleotide variant not provided [RCV001619391] Chr16:84159384 [GRCh38]
Chr16:84192989 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.864-194T>C single nucleotide variant not provided [RCV001673862] Chr16:84165589 [GRCh38]
Chr16:84199195 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1731G>A (p.Ser577=) single nucleotide variant Primary ciliary dyskinesia [RCV001465246] Chr16:84175965 [GRCh38]
Chr16:84209571 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+115dup duplication not provided [RCV001695728] Chr16:84166037..84166038 [GRCh38]
Chr16:84199643..84199644 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=) single nucleotide variant Primary ciliary dyskinesia [RCV001500005] Chr16:84176190 [GRCh38]
Chr16:84209796 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.742-139A>G single nucleotide variant not provided [RCV001710197] Chr16:84159536 [GRCh38]
Chr16:84193141 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.741+187A>C single nucleotide variant not provided [RCV001713718] Chr16:84155936 [GRCh38]
Chr16:84189541 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.575-46C>A single nucleotide variant not provided [RCV001665331] Chr16:84155537 [GRCh38]
Chr16:84189142 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.352+291dup duplication not provided [RCV001686602] Chr16:84150616..84150617 [GRCh38]
Chr16:84184221..84184222 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=) single nucleotide variant Primary ciliary dyskinesia [RCV001500520] Chr16:84150269 [GRCh38]
Chr16:84183874 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=) single nucleotide variant Primary ciliary dyskinesia [RCV001471015] Chr16:84170205 [GRCh38]
Chr16:84203811 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2049_2056del (p.Ala684fs) deletion Primary ciliary dyskinesia 13 [RCV001682620] Chr16:84176280..84176287 [GRCh38]
Chr16:84209886..84209893 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1645-243T>G single nucleotide variant not provided [RCV001652455] Chr16:84174426 [GRCh38]
Chr16:84208032 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1645-9C>A single nucleotide variant Primary ciliary dyskinesia [RCV001478101] Chr16:84174660 [GRCh38]
Chr16:84208266 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=) single nucleotide variant Primary ciliary dyskinesia [RCV001464266] Chr16:84155722 [GRCh38]
Chr16:84189327 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1509C>T (p.Pro503=) single nucleotide variant Primary ciliary dyskinesia [RCV001440189] Chr16:84170337 [GRCh38]
Chr16:84203943 [GRCh37]
Chr16:16q24.1		 likely benign
NC_000016.9:g.(?_84182606)_(84211452_?)del deletion Primary ciliary dyskinesia [RCV001389932] Chr16:84182606..84211452 [GRCh37]
Chr16:16q23.3-24.1		 pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_031463.5(HSDL1):c.-111C>G single nucleotide variant not provided [RCV001733502] Chr16:84145122 [GRCh38]
Chr16:84178727 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001849597]|not provided [RCV003228004] Chr16:84159711 [GRCh38]
Chr16:84193316 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp) single nucleotide variant Primary ciliary dyskinesia [RCV002042127] Chr16:84165859 [GRCh38]
Chr16:84199465 [GRCh37]
Chr16:16q24.1		 uncertain significance
NC_000016.9:g.(?_84179046)_(84193421_?)del deletion Primary ciliary dyskinesia [RCV001947068] Chr16:84179046..84193421 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001914068] Chr16:84165934 [GRCh38]
Chr16:84199540 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001896484] Chr16:84170156 [GRCh38]
Chr16:84203762 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val) single nucleotide variant Inborn genetic diseases [RCV002548931]|Primary ciliary dyskinesia [RCV002024476] Chr16:84172281 [GRCh38]
Chr16:84205887 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001894714] Chr16:84177804 [GRCh38]
Chr16:84211410 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611) copy number loss not specified [RCV002052556] Chr16:84134463..85705611 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001969743] Chr16:84175946 [GRCh38]
Chr16:84209552 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002041150] Chr16:84149036 [GRCh38]
Chr16:84182641 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) copy number loss not specified [RCV002052553] Chr16:83313106..84608026 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054) copy number gain not specified [RCV002052555] Chr16:84035055..84346054 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001849596] Chr16:84159764 [GRCh38]
Chr16:84193369 [GRCh37]
Chr16:16q24.1		 likely pathogenic
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val) single nucleotide variant Primary ciliary dyskinesia [RCV001914134] Chr16:84176248 [GRCh38]
Chr16:84209854 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001987439] Chr16:84174715 [GRCh38]
Chr16:84208321 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002282658]|Primary ciliary dyskinesia [RCV001965172] Chr16:84155611 [GRCh38]
Chr16:84189216 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751) copy number gain not specified [RCV002052557] Chr16:84164522..84712751 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001909403] Chr16:84155646 [GRCh38]
Chr16:84189251 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001984325] Chr16:84165935 [GRCh38]
Chr16:84199541 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1302A>T (p.Gly434=) single nucleotide variant Primary ciliary dyskinesia [RCV001927272] Chr16:84170130 [GRCh38]
Chr16:84203736 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002022676] Chr16:84155691 [GRCh38]
Chr16:84189296 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001911859] Chr16:84175982 [GRCh38]
Chr16:84209588 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His) single nucleotide variant Primary ciliary dyskinesia [RCV001910687] Chr16:84149074 [GRCh38]
Chr16:84182679 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter) single nucleotide variant DNAAF1-related condition [RCV003418250]|Primary ciliary dyskinesia [RCV002037936] Chr16:84176191 [GRCh38]
Chr16:84209797 [GRCh37]
Chr16:16q24.1		 pathogenic|uncertain significance
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001980180] Chr16:84170321 [GRCh38]
Chr16:84203927 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val) single nucleotide variant Primary ciliary dyskinesia [RCV002036525] Chr16:84145486 [GRCh38]
Chr16:84179091 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn) single nucleotide variant Inborn genetic diseases [RCV002563437]|Primary ciliary dyskinesia [RCV001981487] Chr16:84176188 [GRCh38]
Chr16:84209794 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001999550] Chr16:84169900 [GRCh38]
Chr16:84203506 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002015819] Chr16:84170143 [GRCh38]
Chr16:84203749 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn) indel Primary ciliary dyskinesia [RCV001922731] Chr16:84159675..84159676 [GRCh38]
Chr16:84193280..84193281 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu) single nucleotide variant Primary ciliary dyskinesia [RCV001920502] Chr16:84145550 [GRCh38]
Chr16:84179155 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001956725] Chr16:84149054 [GRCh38]
Chr16:84182659 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002035574] Chr16:84170336 [GRCh38]
Chr16:84203942 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val) single nucleotide variant Primary ciliary dyskinesia [RCV001925256] Chr16:84176041 [GRCh38]
Chr16:84209647 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His) single nucleotide variant Primary ciliary dyskinesia [RCV002033964] Chr16:84170153 [GRCh38]
Chr16:84203759 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu) single nucleotide variant Primary ciliary dyskinesia [RCV001978401] Chr16:84170303 [GRCh38]
Chr16:84203909 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.575-10T>A single nucleotide variant Primary ciliary dyskinesia [RCV001980880] Chr16:84155573 [GRCh38]
Chr16:84189178 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val) single nucleotide variant Primary ciliary dyskinesia [RCV001916158] Chr16:84172326 [GRCh38]
Chr16:84205932 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1713G>A (p.Pro571=) single nucleotide variant Primary ciliary dyskinesia [RCV002130542] Chr16:84175947 [GRCh38]
Chr16:84209553 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=) single nucleotide variant Primary ciliary dyskinesia [RCV002149416] Chr16:84172318 [GRCh38]
Chr16:84205924 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.863+17C>G single nucleotide variant Primary ciliary dyskinesia [RCV002153710] Chr16:84159813 [GRCh38]
Chr16:84193418 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=) single nucleotide variant Primary ciliary dyskinesia [RCV002093346] Chr16:84176004 [GRCh38]
Chr16:84209610 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2065+20A>G single nucleotide variant Primary ciliary dyskinesia [RCV002212080] Chr16:84176319 [GRCh38]
Chr16:84209925 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1529-18C>G single nucleotide variant Primary ciliary dyskinesia [RCV002173178] Chr16:84172242 [GRCh38]
Chr16:84205848 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1645-19G>A single nucleotide variant Primary ciliary dyskinesia [RCV002132328] Chr16:84174650 [GRCh38]
Chr16:84208256 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1644+14T>C single nucleotide variant Primary ciliary dyskinesia [RCV002115692] Chr16:84172389 [GRCh38]
Chr16:84205995 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.863+13A>G single nucleotide variant Primary ciliary dyskinesia [RCV002134448] Chr16:84159809 [GRCh38]
Chr16:84193414 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1953C>T (p.Ser651=) single nucleotide variant Primary ciliary dyskinesia [RCV002196695] Chr16:84176187 [GRCh38]
Chr16:84209793 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1698+8T>A single nucleotide variant Primary ciliary dyskinesia [RCV002077393] Chr16:84174730 [GRCh38]
Chr16:84208336 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1401C>A (p.Thr467=) single nucleotide variant Primary ciliary dyskinesia [RCV002113515] Chr16:84170229 [GRCh38]
Chr16:84203835 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.588C>T (p.Val196=) single nucleotide variant Primary ciliary dyskinesia [RCV002078651] Chr16:84155596 [GRCh38]
Chr16:84189201 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2065+14dup duplication Primary ciliary dyskinesia [RCV002122988] Chr16:84176309..84176310 [GRCh38]
Chr16:84209915..84209916 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.742-7C>G single nucleotide variant Primary ciliary dyskinesia [RCV002154812] Chr16:84159668 [GRCh38]
Chr16:84193273 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=) single nucleotide variant Primary ciliary dyskinesia [RCV002217136] Chr16:84154662 [GRCh38]
Chr16:84188267 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=) single nucleotide variant Primary ciliary dyskinesia [RCV002158756] Chr16:84150326 [GRCh38]
Chr16:84183931 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=) single nucleotide variant Primary ciliary dyskinesia [RCV002143671] Chr16:84172324 [GRCh38]
Chr16:84205930 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=) single nucleotide variant Primary ciliary dyskinesia [RCV002180751] Chr16:84170283 [GRCh38]
Chr16:84203889 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+10C>T single nucleotide variant Primary ciliary dyskinesia [RCV002141344] Chr16:84165959 [GRCh38]
Chr16:84199565 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.393G>T (p.Leu131=) single nucleotide variant Primary ciliary dyskinesia [RCV002141523] Chr16:84154617 [GRCh38]
Chr16:84188222 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.864-12T>C single nucleotide variant Primary ciliary dyskinesia [RCV002101464] Chr16:84165771 [GRCh38]
Chr16:84199377 [GRCh37]
Chr16:16q24.1		 likely benign
NC_000016.9:g.(?_84193260)_(84193421_?)del deletion Primary ciliary dyskinesia [RCV003113899] Chr16:84193260..84193421 [GRCh37]
Chr16:16q23.3		 pathogenic
NC_000016.9:g.(?_84188162)_(84203982_?)del deletion Primary ciliary dyskinesia [RCV003113900] Chr16:84188162..84203982 [GRCh37]
Chr16:16q23.3-24.1		 pathogenic
NC_000016.9:g.(?_83932750)_(84211465_?)dup duplication Primary ciliary dyskinesia [RCV003113901] Chr16:83932750..84211465 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=) single nucleotide variant Primary ciliary dyskinesia [RCV003112837] Chr16:84159698 [GRCh38]
Chr16:84193303 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1243A>T (p.Thr415Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002384962] Chr16:84170071 [GRCh38]
Chr16:84203677 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.742C>A (p.Arg248Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002385010] Chr16:84159675 [GRCh38]
Chr16:84193280 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1030+113_1030+115del deletion not provided [RCV002286096] Chr16:84166038..84166040 [GRCh38]
Chr16:84199644..84199646 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala) single nucleotide variant Primary ciliary dyskinesia 13 [RCV002282780] Chr16:84170030 [GRCh38]
Chr16:84203636 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.575-119G>A single nucleotide variant not provided [RCV002286235] Chr16:84155464 [GRCh38]
Chr16:84189069 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_031463.4(HSDL1):c.-179G>C single nucleotide variant not provided [RCV002288173] Chr16:84145190 [GRCh38]
Chr16:84178795 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=) single nucleotide variant Primary ciliary dyskinesia [RCV002366790] Chr16:84155671 [GRCh38]
Chr16:84189276 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs) duplication Primary ciliary dyskinesia [RCV002454754] Chr16:84150320..84150321 [GRCh38]
Chr16:84183925..84183926 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.2048T>C (p.Leu683Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002420034] Chr16:84176282 [GRCh38]
Chr16:84209888 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.743G>A (p.Arg248His) single nucleotide variant Primary ciliary dyskinesia [RCV002385067] Chr16:84159676 [GRCh38]
Chr16:84193281 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.511C>A (p.Pro171Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002351535] Chr16:84154735 [GRCh38]
Chr16:84188340 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1103A>C (p.Asp368Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002434951] Chr16:84169931 [GRCh38]
Chr16:84203537 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.33T>C (p.Gly11=) single nucleotide variant Primary ciliary dyskinesia [RCV002452064] Chr16:84145473 [GRCh38]
Chr16:84179078 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2143dup (p.Asp715fs) duplication Primary ciliary dyskinesia 13 [RCV003150915] Chr16:84177803..84177804 [GRCh38]
Chr16:84211409..84211410 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1828T>G (p.Ser610Ala) single nucleotide variant Inborn genetic diseases [RCV003256817] Chr16:84176062 [GRCh38]
Chr16:84209668 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1806T>C (p.Thr602=) single nucleotide variant Primary ciliary dyskinesia [RCV002410080] Chr16:84176040 [GRCh38]
Chr16:84209646 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2019T>C (p.Thr673=) single nucleotide variant Primary ciliary dyskinesia [RCV002417443] Chr16:84176253 [GRCh38]
Chr16:84209859 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002417478] Chr16:84145547 [GRCh38]
Chr16:84179152 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1384C>G (p.Gln462Glu) single nucleotide variant Primary ciliary dyskinesia [RCV002381231] Chr16:84170212 [GRCh38]
Chr16:84203818 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1131A>G (p.Leu377=) single nucleotide variant Primary ciliary dyskinesia [RCV002322598] Chr16:84169959 [GRCh38]
Chr16:84203565 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002401294] Chr16:84172362 [GRCh38]
Chr16:84205968 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met) single nucleotide variant Primary ciliary dyskinesia [RCV002404087] Chr16:84176014 [GRCh38]
Chr16:84209620 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.148T>G (p.Cys50Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002389676] Chr16:84149030 [GRCh38]
Chr16:84182635 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.818A>G (p.Lys273Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002427836] Chr16:84159751 [GRCh38]
Chr16:84193356 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.270A>T (p.Lys90Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002429071] Chr16:84150260 [GRCh38]
Chr16:84183865 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.626C>G (p.Thr209Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002353904] Chr16:84155634 [GRCh38]
Chr16:84189239 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1356T>A (p.Pro452=) single nucleotide variant Primary ciliary dyskinesia [RCV002383369] Chr16:84170184 [GRCh38]
Chr16:84203790 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1535C>G (p.Thr512Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002392580] Chr16:84172266 [GRCh38]
Chr16:84205872 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1098C>G (p.Pro366=) single nucleotide variant Primary ciliary dyskinesia [RCV002459908] Chr16:84169926 [GRCh38]
Chr16:84203532 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1897T>C (p.Leu633=) single nucleotide variant Primary ciliary dyskinesia [RCV002408143] Chr16:84176131 [GRCh38]
Chr16:84209737 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=) single nucleotide variant Primary ciliary dyskinesia [RCV002400945] Chr16:84172345 [GRCh38]
Chr16:84205951 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1167C>G (p.Leu389=) single nucleotide variant Primary ciliary dyskinesia [RCV002333404] Chr16:84169995 [GRCh38]
Chr16:84203601 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1161C>T (p.Asp387=) single nucleotide variant Primary ciliary dyskinesia [RCV002375614] Chr16:84169989 [GRCh38]
Chr16:84203595 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=) single nucleotide variant Primary ciliary dyskinesia [RCV002428217] Chr16:84149104 [GRCh38]
Chr16:84182709 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.935G>C (p.Arg312Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002450093] Chr16:84165854 [GRCh38]
Chr16:84199460 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002394329] Chr16:84149025 [GRCh38]
Chr16:84182630 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.730A>G (p.Met244Val) single nucleotide variant Primary ciliary dyskinesia [RCV002380033] Chr16:84155738 [GRCh38]
Chr16:84189343 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) single nucleotide variant Primary ciliary dyskinesia [RCV002340714] Chr16:84154715 [GRCh38]
Chr16:84188320 [GRCh37]
Chr16:16q24.1		 likely benign|conflicting interpretations of pathogenicity
NM_178452.6(DNAAF1):c.183G>T (p.Gln61His) single nucleotide variant Primary ciliary dyskinesia [RCV002412828] Chr16:84149065 [GRCh38]
Chr16:84182670 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1385A>G (p.Gln462Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002396504] Chr16:84170213 [GRCh38]
Chr16:84203819 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=) single nucleotide variant Primary ciliary dyskinesia [RCV002378080] Chr16:84155698 [GRCh38]
Chr16:84189303 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.4C>A (p.His2Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002343036] Chr16:84145444 [GRCh38]
Chr16:84179049 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.254G>T (p.Gly85Val) single nucleotide variant Primary ciliary dyskinesia [RCV002433294] Chr16:84149136 [GRCh38]
Chr16:84182741 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1823C>T (p.Ala608Val) single nucleotide variant Primary ciliary dyskinesia [RCV002410387] Chr16:84176057 [GRCh38]
Chr16:84209663 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1465G>A (p.Glu489Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002396814] Chr16:84170293 [GRCh38]
Chr16:84203899 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met) single nucleotide variant Primary ciliary dyskinesia [RCV002614613] Chr16:84155720 [GRCh38]
Chr16:84189325 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003074331] Chr16:84155663 [GRCh38]
Chr16:84189268 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met) single nucleotide variant Primary ciliary dyskinesia [RCV002615474] Chr16:84159687 [GRCh38]
Chr16:84193292 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1435G>A (p.Val479Met) single nucleotide variant Inborn genetic diseases [RCV002882568] Chr16:84170263 [GRCh38]
Chr16:84203869 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1078G>A (p.Glu360Lys) single nucleotide variant Inborn genetic diseases [RCV002865954] Chr16:84169906 [GRCh38]
Chr16:84203512 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1007G>A (p.Arg336Lys) single nucleotide variant Inborn genetic diseases [RCV002884026] Chr16:84165926 [GRCh38]
Chr16:84199532 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=) single nucleotide variant Primary ciliary dyskinesia [RCV002756562] Chr16:84172357 [GRCh38]
Chr16:84205963 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002904592] Chr16:84176161 [GRCh38]
Chr16:84209767 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=) single nucleotide variant Primary ciliary dyskinesia [RCV002908568] Chr16:84175974 [GRCh38]
Chr16:84209580 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met) single nucleotide variant Primary ciliary dyskinesia [RCV002731031] Chr16:84172317 [GRCh38]
Chr16:84205923 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV002778289] Chr16:84145447 [GRCh38]
Chr16:84179052 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1693G>C (p.Asp565His) single nucleotide variant Inborn genetic diseases [RCV002777513] Chr16:84174717 [GRCh38]
Chr16:84208323 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2065+9G>T single nucleotide variant Primary ciliary dyskinesia [RCV003021286] Chr16:84176308 [GRCh38]
Chr16:84209914 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002928062] Chr16:84154669 [GRCh38]
Chr16:84188274 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=) single nucleotide variant Primary ciliary dyskinesia [RCV002909526] Chr16:84172288 [GRCh38]
Chr16:84205894 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.317del (p.Pro106fs) deletion Primary ciliary dyskinesia [RCV002866526] Chr16:84150304 [GRCh38]
Chr16:84183909 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val) single nucleotide variant Primary ciliary dyskinesia [RCV002780384] Chr16:84154588 [GRCh38]
Chr16:84188193 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1539C>T (p.Pro513=) single nucleotide variant Primary ciliary dyskinesia [RCV002998726] Chr16:84172270 [GRCh38]
Chr16:84205876 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=) single nucleotide variant Primary ciliary dyskinesia [RCV003001804] Chr16:84170112 [GRCh38]
Chr16:84203718 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002948370] Chr16:84154657 [GRCh38]
Chr16:84188262 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002926602] Chr16:84170168 [GRCh38]
Chr16:84203774 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002620014] Chr16:84177801 [GRCh38]
Chr16:84211407 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1606del (p.Thr536fs) deletion Primary ciliary dyskinesia [RCV003077315] Chr16:84172335 [GRCh38]
Chr16:84205941 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1030+7G>A single nucleotide variant Primary ciliary dyskinesia [RCV002780434] Chr16:84165956 [GRCh38]
Chr16:84199562 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003080137] Chr16:84145498 [GRCh38]
Chr16:84179103 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002637390] Chr16:84154640 [GRCh38]
Chr16:84188245 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn) single nucleotide variant Primary ciliary dyskinesia [RCV003039014] Chr16:84176258 [GRCh38]
Chr16:84209864 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002909997] Chr16:84170099 [GRCh38]
Chr16:84203705 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys) single nucleotide variant Primary ciliary dyskinesia [RCV003007691] Chr16:84149078 [GRCh38]
Chr16:84182683 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=) single nucleotide variant Primary ciliary dyskinesia [RCV002664022] Chr16:84165792 [GRCh38]
Chr16:84199398 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2118G>C (p.Gln706His) single nucleotide variant Inborn genetic diseases [RCV002803445] Chr16:84177781 [GRCh38]
Chr16:84211387 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.575-20C>T single nucleotide variant Primary ciliary dyskinesia [RCV002644335] Chr16:84155563 [GRCh38]
Chr16:84189168 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1992C>T (p.Thr664=) single nucleotide variant Primary ciliary dyskinesia [RCV002593975] Chr16:84176226 [GRCh38]
Chr16:84209832 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.153G>C (p.Val51=) single nucleotide variant Primary ciliary dyskinesia [RCV002595349] Chr16:84149035 [GRCh38]
Chr16:84182640 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val) single nucleotide variant Primary ciliary dyskinesia [RCV002983102] Chr16:84176170 [GRCh38]
Chr16:84209776 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=) single nucleotide variant Primary ciliary dyskinesia [RCV003022307] Chr16:84154785 [GRCh38]
Chr16:84188390 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1030+11_1030+22del deletion Primary ciliary dyskinesia [RCV002594623] Chr16:84165960..84165971 [GRCh38]
Chr16:84199566..84199577 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.29C>T (p.Thr10Ile) single nucleotide variant Inborn genetic diseases [RCV002955386] Chr16:84145469 [GRCh38]
Chr16:84179074 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.30del (p.Gly11fs) deletion Primary ciliary dyskinesia [RCV002918489] Chr16:84145470 [GRCh38]
Chr16:84179075 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1645-5T>C single nucleotide variant Primary ciliary dyskinesia [RCV002957808] Chr16:84174664 [GRCh38]
Chr16:84208270 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002932745] Chr16:84172286 [GRCh38]
Chr16:84205892 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003041264] Chr16:84170290 [GRCh38]
Chr16:84203896 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.260+3A>G single nucleotide variant Primary ciliary dyskinesia [RCV002790194] Chr16:84149145 [GRCh38]
Chr16:84182750 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2143G>A (p.Asp715Asn) single nucleotide variant Inborn genetic diseases [RCV002915900] Chr16:84177806 [GRCh38]
Chr16:84211412 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.742-12G>A single nucleotide variant Primary ciliary dyskinesia [RCV002651879] Chr16:84159663 [GRCh38]
Chr16:84193268 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=) single nucleotide variant Primary ciliary dyskinesia [RCV002630938] Chr16:84169860 [GRCh38]
Chr16:84203466 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln) single nucleotide variant Primary ciliary dyskinesia [RCV003062135] Chr16:84172349 [GRCh38]
Chr16:84205955 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=) single nucleotide variant Primary ciliary dyskinesia [RCV002582093] Chr16:84150323 [GRCh38]
Chr16:84183928 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002582091] Chr16:84170090 [GRCh38]
Chr16:84203696 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1533G>A (p.Pro511=) single nucleotide variant Primary ciliary dyskinesia [RCV002746064] Chr16:84172264 [GRCh38]
Chr16:84205870 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1979T>G (p.Leu660Arg) single nucleotide variant Inborn genetic diseases [RCV002855519] Chr16:84176213 [GRCh38]
Chr16:84209819 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003060215] Chr16:84174708 [GRCh38]
Chr16:84208314 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003087818] Chr16:84155657 [GRCh38]
Chr16:84189262 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=) single nucleotide variant Primary ciliary dyskinesia [RCV002937892] Chr16:84172342 [GRCh38]
Chr16:84205948 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe) single nucleotide variant Primary ciliary dyskinesia [RCV003030217] Chr16:84155687 [GRCh38]
Chr16:84189292 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp) single nucleotide variant Primary ciliary dyskinesia [RCV003063592] Chr16:84170139 [GRCh38]
Chr16:84203745 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp) single nucleotide variant Primary ciliary dyskinesia [RCV003046564] Chr16:84172299 [GRCh38]
Chr16:84205905 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His) single nucleotide variant Primary ciliary dyskinesia [RCV002922454] Chr16:84154619 [GRCh38]
Chr16:84188224 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe) single nucleotide variant Primary ciliary dyskinesia [RCV003064450] Chr16:84176133 [GRCh38]
Chr16:84209739 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002647581] Chr16:84149100 [GRCh38]
Chr16:84182705 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=) single nucleotide variant Primary ciliary dyskinesia [RCV003091578] Chr16:84145545 [GRCh38]
Chr16:84179150 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.863+8G>A single nucleotide variant Primary ciliary dyskinesia [RCV002632276] Chr16:84159804 [GRCh38]
Chr16:84193409 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu) single nucleotide variant Inborn genetic diseases [RCV003308208]|Primary ciliary dyskinesia [RCV002653532] Chr16:84170336 [GRCh38]
Chr16:84203942 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp) single nucleotide variant Inborn genetic diseases [RCV003274262]|Primary ciliary dyskinesia [RCV002603076] Chr16:84172360 [GRCh38]
Chr16:84205966 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val) single nucleotide variant Primary ciliary dyskinesia [RCV003067623] Chr16:84176017 [GRCh38]
Chr16:84209623 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=) single nucleotide variant Primary ciliary dyskinesia [RCV002583236] Chr16:84165819 [GRCh38]
Chr16:84199425 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1529-11T>C single nucleotide variant Primary ciliary dyskinesia [RCV002587029] Chr16:84172249 [GRCh38]
Chr16:84205855 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val) single nucleotide variant Primary ciliary dyskinesia [RCV003066776] Chr16:84154762 [GRCh38]
Chr16:84188367 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002583654] Chr16:84172349 [GRCh38]
Chr16:84205955 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val) single nucleotide variant Primary ciliary dyskinesia [RCV002942675] Chr16:84169904 [GRCh38]
Chr16:84203510 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp) single nucleotide variant Primary ciliary dyskinesia [RCV002654583] Chr16:84149037 [GRCh38]
Chr16:84182642 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002611707] Chr16:84169952 [GRCh38]
Chr16:84203558 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2039G>A (p.Ser680Asn) single nucleotide variant Inborn genetic diseases [RCV003216823] Chr16:84176273 [GRCh38]
Chr16:84209879 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.766C>G (p.Pro256Ala) single nucleotide variant Primary ciliary dyskinesia [RCV003168467] Chr16:84159699 [GRCh38]
Chr16:84193304 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.555C>G (p.Ile185Met) single nucleotide variant Primary ciliary dyskinesia [RCV003168468] Chr16:84154779 [GRCh38]
Chr16:84188384 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1640T>C (p.Ile547Thr) single nucleotide variant Inborn genetic diseases [RCV003214293] Chr16:84172371 [GRCh38]
Chr16:84205977 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.83C>T (p.Ala28Val) single nucleotide variant Inborn genetic diseases [RCV003190785] Chr16:84145523 [GRCh38]
Chr16:84179128 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp) single nucleotide variant Inborn genetic diseases [RCV003199953] Chr16:84145508 [GRCh38]
Chr16:84179113 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.596C>T (p.Thr199Ile) single nucleotide variant Inborn genetic diseases [RCV003206473] Chr16:84155604 [GRCh38]
Chr16:84189209 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn) single nucleotide variant Inborn genetic diseases [RCV003258495] Chr16:84149076 [GRCh38]
Chr16:84182681 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.584C>G (p.Pro195Arg) single nucleotide variant Inborn genetic diseases [RCV003262221] Chr16:84155592 [GRCh38]
Chr16:84189197 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1153G>T (p.Ala385Ser) single nucleotide variant Inborn genetic diseases [RCV003386112] Chr16:84169981 [GRCh38]
Chr16:84203587 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu) single nucleotide variant Inborn genetic diseases [RCV003369535] Chr16:84149047 [GRCh38]
Chr16:84182652 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2176T>C (p.Ter726Gln) single nucleotide variant Primary ciliary dyskinesia [RCV003382416] Chr16:84177839 [GRCh38]
Chr16:84211445 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn) single nucleotide variant Inborn genetic diseases [RCV003383210] Chr16:84145560 [GRCh38]
Chr16:84179165 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) single nucleotide variant Inborn genetic diseases [RCV003369067]|Primary ciliary dyskinesia [RCV003649449] Chr16:84145453 [GRCh38]
Chr16:84179058 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=) single nucleotide variant Primary ciliary dyskinesia [RCV003387409] Chr16:84176041 [GRCh38]
Chr16:84209647 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=) single nucleotide variant Primary ciliary dyskinesia [RCV003875618] Chr16:84145536 [GRCh38]
Chr16:84179141 [GRCh37]
Chr16:16q24.1		 likely benign
GRCh37/hg19 16q23.3(chr16:84025593-84179382)x1 copy number loss not provided [RCV003483300] Chr16:84025593..84179382 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84179382-84326070)x1 copy number loss not provided [RCV003483301] Chr16:84179382..84326070 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1121A>T (p.Lys374Met) single nucleotide variant not provided [RCV003426860] Chr16:84169949 [GRCh38]
Chr16:84203555 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.353-5G>A single nucleotide variant Primary ciliary dyskinesia [RCV003825488] Chr16:84154572 [GRCh38]
Chr16:84188177 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1431G>A (p.Pro477=) single nucleotide variant not provided [RCV003419468] Chr16:84170259 [GRCh38]
Chr16:84203865 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter) single nucleotide variant DNAAF1-related condition [RCV003400058]|Primary ciliary dyskinesia [RCV003778260] Chr16:84165904 [GRCh38]
Chr16:84199510 [GRCh37]
Chr16:16q24.1		 pathogenic|likely pathogenic
NM_178452.6(DNAAF1):c.124+16C>T single nucleotide variant Primary ciliary dyskinesia [RCV003653083] Chr16:84145580 [GRCh38]
Chr16:84179185 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003648134] Chr16:84174702 [GRCh38]
Chr16:84208308 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=) single nucleotide variant Primary ciliary dyskinesia [RCV003653869] Chr16:84177817 [GRCh38]
Chr16:84211423 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=) single nucleotide variant Primary ciliary dyskinesia [RCV003880335] Chr16:84150323 [GRCh38]
Chr16:84183928 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=) single nucleotide variant Primary ciliary dyskinesia [RCV003654092] Chr16:84177841 [GRCh38]
Chr16:84211447 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=) single nucleotide variant Primary ciliary dyskinesia [RCV003653923] Chr16:84175953 [GRCh38]
Chr16:84209559 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=) single nucleotide variant Primary ciliary dyskinesia [RCV003877046] Chr16:84170091 [GRCh38]
Chr16:84203697 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.352+9C>A single nucleotide variant Primary ciliary dyskinesia [RCV003651182] Chr16:84150351 [GRCh38]
Chr16:84183956 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003653969] Chr16:84170353 [GRCh38]
Chr16:84203959 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003652664] Chr16:84176066 [GRCh38]
Chr16:84209672 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1698+9C>T single nucleotide variant Primary ciliary dyskinesia [RCV003652824] Chr16:84174731 [GRCh38]
Chr16:84208337 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.574+11C>T single nucleotide variant Primary ciliary dyskinesia [RCV003648070] Chr16:84154809 [GRCh38]
Chr16:84188414 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=) single nucleotide variant Primary ciliary dyskinesia [RCV003649971] Chr16:84172309 [GRCh38]
Chr16:84205915 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=) single nucleotide variant Primary ciliary dyskinesia [RCV003652549] Chr16:84175989 [GRCh38]
Chr16:84209595 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=) single nucleotide variant Primary ciliary dyskinesia [RCV003651196] Chr16:84154746 [GRCh38]
Chr16:84188351 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=) single nucleotide variant Primary ciliary dyskinesia [RCV003653146] Chr16:84165858 [GRCh38]
Chr16:84199464 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.124+12C>T single nucleotide variant Primary ciliary dyskinesia [RCV003652615] Chr16:84145576 [GRCh38]
Chr16:84179181 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs) deletion Primary ciliary dyskinesia [RCV003652967] Chr16:84154686..84154689 [GRCh38]
Chr16:84188291..84188294 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.575-18G>T single nucleotide variant Primary ciliary dyskinesia [RCV003648038] Chr16:84155565 [GRCh38]
Chr16:84189170 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1699-3T>C single nucleotide variant DNAAF1-related condition [RCV003984396]|Primary ciliary dyskinesia [RCV003648135] Chr16:84175930 [GRCh38]
Chr16:84209536 [GRCh37]
Chr16:16q24.1		 likely benign|uncertain significance
NM_178452.6(DNAAF1):c.1645-9C>T single nucleotide variant Primary ciliary dyskinesia [RCV003651656] Chr16:84174660 [GRCh38]
Chr16:84208266 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=) single nucleotide variant Primary ciliary dyskinesia [RCV003652886] Chr16:84150311 [GRCh38]
Chr16:84183916 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003648037] Chr16:84154666 [GRCh38]
Chr16:84188271 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003647610] Chr16:84174721 [GRCh38]
Chr16:84208327 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003647616] Chr16:84165799 [GRCh38]
Chr16:84199405 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1645-19G>C single nucleotide variant Primary ciliary dyskinesia [RCV003536556] Chr16:84174650 [GRCh38]
Chr16:84208256 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=) single nucleotide variant Primary ciliary dyskinesia [RCV003849447] Chr16:84170343 [GRCh38]
Chr16:84203949 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1644+17dup duplication Primary ciliary dyskinesia [RCV003535208] Chr16:84172390..84172391 [GRCh38]
Chr16:84205996..84205997 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1645-20C>T single nucleotide variant Primary ciliary dyskinesia [RCV003535347] Chr16:84174649 [GRCh38]
Chr16:84208255 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.352+15G>C single nucleotide variant Primary ciliary dyskinesia [RCV003536962] Chr16:84150357 [GRCh38]
Chr16:84183962 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.741+4AAAAAC[4] microsatellite Primary ciliary dyskinesia [RCV003833424] Chr16:84155752..84155753 [GRCh38]
Chr16:84189357..84189358 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs) deletion Primary ciliary dyskinesia [RCV003535042] Chr16:84149087..84149094 [GRCh38]
Chr16:84182692..84182699 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.261-20A>G single nucleotide variant Primary ciliary dyskinesia [RCV003538881] Chr16:84150231 [GRCh38]
Chr16:84183836 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.353-19C>T single nucleotide variant Primary ciliary dyskinesia [RCV003538936] Chr16:84154558 [GRCh38]
Chr16:84188163 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs) duplication Primary ciliary dyskinesia [RCV003832252] Chr16:84175979..84175980 [GRCh38]
Chr16:84209585..84209586 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.39A>C (p.Ala13=) single nucleotide variant Primary ciliary dyskinesia [RCV003537598] Chr16:84145479 [GRCh38]
Chr16:84179084 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=) single nucleotide variant Primary ciliary dyskinesia [RCV003535486] Chr16:84169929 [GRCh38]
Chr16:84203535 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val) single nucleotide variant Primary ciliary dyskinesia [RCV003536091] Chr16:84154654 [GRCh38]
Chr16:84188259 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003536841] Chr16:84172280 [GRCh38]
Chr16:84205886 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003870981] Chr16:84149112 [GRCh38]
Chr16:84182717 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3 copy number gain not specified [RCV003987204] Chr16:83307393..84530337 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3 copy number gain not specified [RCV003987190] Chr16:84046622..84340916 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_178452.6(DNAAF1):c.741+2T>G single nucleotide variant Primary ciliary dyskinesia [RCV003841946] Chr16:84155751 [GRCh38]
Chr16:84189356 [GRCh37]
Chr16:16q24.1		 likely pathogenic
NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer) deletion Primary ciliary dyskinesia [RCV003860811] Chr16:84170263 [GRCh38]
Chr16:84203869 [GRCh37]
Chr16:16q24.1		 pathogenic
NM_178452.6(DNAAF1):c.91C>T (p.His31Tyr) single nucleotide variant DNAAF1-related condition [RCV003949708] Chr16:84145531 [GRCh38]
Chr16:84179136 [GRCh37]
Chr16:16q24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1 copy number loss not specified [RCV003987130] Chr16:84009532..84245489 [GRCh37]
Chr16:16q23.3-24.1		 pathogenic
NM_178452.6(DNAAF1):c.1376A>C (p.Asp459Ala) single nucleotide variant not provided [RCV003887356] Chr16:84170204 [GRCh38]
Chr16:84203810 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.575-1G>C single nucleotide variant DNAAF1-related condition [RCV003903958] Chr16:84155582 [GRCh38]
Chr16:84189187 [GRCh37]
Chr16:16q24.1		 likely pathogenic
NM_178452.6(DNAAF1):c.1182A>G (p.Pro394=) single nucleotide variant Primary ciliary dyskinesia [RCV003176939] Chr16:84170010 [GRCh38]
Chr16:84203616 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.489C>T (p.Leu163=) single nucleotide variant not provided [RCV000935941] Chr16:84154713 [GRCh38]
Chr16:84188318 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.-66T>C single nucleotide variant Primary ciliary dyskinesia 13 [RCV001118619] Chr16:84145375 [GRCh38]
Chr16:84178980 [GRCh37]
Chr16:16q24.1		 benign
NM_178452.6(DNAAF1):c.1272G>A (p.Ser424=) single nucleotide variant Primary ciliary dyskinesia [RCV002570547] Chr16:84170100 [GRCh38]
Chr16:84203706 [GRCh37]
Chr16:16q24.1		 likely benign
NM_178452.6(DNAAF1):c.1691A>T (p.Glu564Val) single nucleotide variant Inborn genetic diseases [RCV002733060] Chr16:84174715 [GRCh38]
Chr16:84208321 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.125-5T>C single nucleotide variant Primary ciliary dyskinesia 13 [RCV003146194] Chr16:84149002 [GRCh38]
Chr16:84182607 [GRCh37]
Chr16:16q24.1		 uncertain significance
NM_178452.6(DNAAF1):c.1892G>C (p.Arg631Thr) single nucleotide variant Inborn genetic diseases [RCV003180537] Chr16:84176126 [GRCh38]
Chr16:84209732 [GRCh37]
Chr16:16q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2152
Count of miRNA genes:752
Interacting mature miRNAs:896
Transcripts:ENST00000334315, ENST00000378553, ENST00000562024, ENST00000563093, ENST00000563818, ENST00000564928, ENST00000567666, ENST00000567918, ENST00000569735, ENST00000570298
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH69603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,211,365 - 84,211,512UniSTSGRCh37
Build 361682,768,866 - 82,769,013RGDNCBI36
Celera1668,513,174 - 68,513,321RGD
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q24UniSTS
HuRef1669,965,142 - 69,965,289UniSTS
GeneMap99-GB4 RH Map16464.87UniSTS
NCBI RH Map16655.8UniSTS
RH17650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,211,646 - 84,211,867UniSTSGRCh37
Build 361682,769,147 - 82,769,368RGDNCBI36
Celera1668,513,455 - 68,513,676RGD
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q24UniSTS
HuRef1669,965,423 - 69,965,644UniSTS
GeneMap99-GB4 RH Map16464.87UniSTS
NCBI RH Map16655.8UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D3S1673  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp22.2UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2808  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.1UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
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Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D17S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map15q22UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 326 2 335 3 395 373
Low 337 252 843 127 452 59 870 91 2922 254 668 1005 72 1 211 596 2 1
Below cutoff 2078 2712 513 452 1325 361 3476 2093 475 148 393 229 100 991 2188 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA994895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC040169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA349893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY196988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY223243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N47170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378553   ⟹   ENSP00000367815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,145,308 - 84,177,918 (+)Ensembl
RefSeq Acc Id: ENST00000562024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,175,763 - 84,177,918 (+)Ensembl
RefSeq Acc Id: ENST00000563093   ⟹   ENSP00000457373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,145,310 - 84,174,847 (+)Ensembl
RefSeq Acc Id: ENST00000563818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,158,842 - 84,177,917 (+)Ensembl
RefSeq Acc Id: ENST00000564928   ⟹   ENSP00000457899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,176,141 - 84,178,767 (+)Ensembl
RefSeq Acc Id: ENST00000567666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,159,082 - 84,169,976 (+)Ensembl
RefSeq Acc Id: ENST00000567918   ⟹   ENSP00000455154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,145,310 - 84,159,748 (+)Ensembl
RefSeq Acc Id: ENST00000569735   ⟹   ENSP00000454960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,175,933 - 84,177,917 (+)Ensembl
RefSeq Acc Id: ENST00000570298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,145,287 - 84,177,918 (+)Ensembl
RefSeq Acc Id: ENST00000623406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1684,175,228 - 84,177,916 (+)Ensembl
RefSeq Acc Id: NM_001318756   ⟹   NP_001305685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,159,040 - 84,177,920 (+)NCBI
CHM1_11685,604,043 - 85,622,913 (+)NCBI
T2T-CHM13v2.01690,225,129 - 90,243,993 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178452   ⟹   NP_848547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,918 (+)NCBI
GRCh371684,178,865 - 84,211,524 (+)RGD
GRCh371684,178,865 - 84,211,524 (+)NCBI
Build 361682,736,366 - 82,769,025 (+)NCBI Archive
Celera1668,480,658 - 68,513,333 (+)RGD
HuRef1669,932,647 - 69,965,301 (+)ENTREZGENE
CHM1_11685,590,244 - 85,622,913 (+)NCBI
T2T-CHM13v2.01690,211,391 - 90,243,991 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721129   ⟹   XP_006721192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522853   ⟹   XP_011521155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522854   ⟹   XP_011521156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522855   ⟹   XP_011521157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522857   ⟹   XP_011521159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,175,631 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522858   ⟹   XP_011521160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,175,631 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022918   ⟹   XP_016878407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022919   ⟹   XP_016878408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,768 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022920   ⟹   XP_016878409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,159,040 - 84,177,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433589   ⟹   XP_047289545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,176,239 (+)NCBI
RefSeq Acc Id: XM_047433590   ⟹   XP_047289546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,308 - 84,176,239 (+)NCBI
RefSeq Acc Id: XM_054379542   ⟹   XP_054235517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379543   ⟹   XP_054235518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379544   ⟹   XP_054235519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379545   ⟹   XP_054235520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379546   ⟹   XP_054235521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379547   ⟹   XP_054235522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,242,312 (+)NCBI
RefSeq Acc Id: XM_054379548   ⟹   XP_054235523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,242,312 (+)NCBI
RefSeq Acc Id: XM_054379549   ⟹   XP_054235524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,241,704 (+)NCBI
RefSeq Acc Id: XM_054379550   ⟹   XP_054235525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,391 - 90,241,704 (+)NCBI
RefSeq Acc Id: XM_054379551   ⟹   XP_054235526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,211,852 - 90,243,993 (+)NCBI
RefSeq Acc Id: XM_054379552   ⟹   XP_054235527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01690,225,129 - 90,243,993 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001305685 (Get FASTA)   NCBI Sequence Viewer  
  NP_848547 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721192 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521155 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521156 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521157 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521159 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521160 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878407 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878408 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878409 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235517 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235518 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235519 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235522 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235527 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH24009 (Get FASTA)   NCBI Sequence Viewer  
  AEE61021 (Get FASTA)   NCBI Sequence Viewer  
  BAB71392 (Get FASTA)   NCBI Sequence Viewer  
  BAB71645 (Get FASTA)   NCBI Sequence Viewer  
  BAG58765 (Get FASTA)   NCBI Sequence Viewer  
  CAH10390 (Get FASTA)   NCBI Sequence Viewer  
  CAH10394 (Get FASTA)   NCBI Sequence Viewer  
  CAH10706 (Get FASTA)   NCBI Sequence Viewer  
  EAW95500 (Get FASTA)   NCBI Sequence Viewer  
  EAW95501 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367815
  ENSP00000367815.5
  ENSP00000454960.1
  ENSP00000455154.1
  ENSP00000457373.1
  ENSP00000457899.1
GenBank Protein Q8NEP3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_848547   ⟸   NM_178452
- Peptide Label: isoform 1
- UniProtKB: Q96LP3 (UniProtKB/Swiss-Prot),   Q69YW5 (UniProtKB/Swiss-Prot),   Q69YJ0 (UniProtKB/Swiss-Prot),   Q69YI8 (UniProtKB/Swiss-Prot),   B4DJA3 (UniProtKB/Swiss-Prot),   Q96MB6 (UniProtKB/Swiss-Prot),   Q8NEP3 (UniProtKB/Swiss-Prot),   A0A140VJN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721192   ⟸   XM_006721129
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011521156   ⟸   XM_011522854
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011521155   ⟸   XM_011522853
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521157   ⟸   XM_011522855
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011521159   ⟸   XM_011522857
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011521160   ⟸   XM_011522858
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001305685   ⟸   NM_001318756
- Peptide Label: isoform 2
- UniProtKB: Q8NEP3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878407   ⟸   XM_017022918
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016878408   ⟸   XM_017022919
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016878409   ⟸   XM_017022920
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: ENSP00000454960   ⟸   ENST00000569735
RefSeq Acc Id: ENSP00000367815   ⟸   ENST00000378553
RefSeq Acc Id: ENSP00000457373   ⟸   ENST00000563093
RefSeq Acc Id: ENSP00000457899   ⟸   ENST00000564928
RefSeq Acc Id: ENSP00000455154   ⟸   ENST00000567918
RefSeq Acc Id: XP_047289545   ⟸   XM_047433589
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047289546   ⟸   XM_047433590
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054235519   ⟸   XM_054379544
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235517   ⟸   XM_054379542
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235520   ⟸   XM_054379545
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235521   ⟸   XM_054379546
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235518   ⟸   XM_054379543
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235522   ⟸   XM_054379547
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054235523   ⟸   XM_054379548
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054235524   ⟸   XM_054379549
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054235525   ⟸   XM_054379550
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054235526   ⟸   XM_054379551
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054235527   ⟸   XM_054379552
- Peptide Label: isoform X11
Protein Domains
LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEP3-F1-model_v2 AlphaFold Q8NEP3 1-725 view protein structure

Promoters
RGD ID:6793201
Promoter ID:HG_KWN:24368
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000334315,   NM_001146051,   NM_031463,   OTTHUMT00000250328,   UC010CHI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361682,735,501 - 82,736,327 (-)MPROMDB
RGD ID:7233005
Promoter ID:EPDNEW_H22248
Type:initiation region
Name:DNAAF1_1
Description:dynein axonemal assembly factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,145,310 - 84,145,370EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30539 AgrOrtholog
COSMIC DNAAF1 COSMIC
Ensembl Genes ENSG00000154099 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000378553 ENTREZGENE
  ENST00000378553.10 UniProtKB/Swiss-Prot
  ENST00000563093.5 UniProtKB/Swiss-Prot
  ENST00000563818 ENTREZGENE
  ENST00000564928.1 UniProtKB/TrEMBL
  ENST00000567918.5 UniProtKB/TrEMBL
  ENST00000569735.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154099 GTEx
HGNC ID HGNC:30539 ENTREZGENE
Human Proteome Map DNAAF1 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:123872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 123872 ENTREZGENE
OMIM 613190 OMIM
PANTHER PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT SDS22-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45973:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671510 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Outer arm dynein light chain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJN4 ENTREZGENE, UniProtKB/TrEMBL
  B4DJA3 ENTREZGENE
  DAAF1_HUMAN UniProtKB/Swiss-Prot
  H3BNQ4_HUMAN UniProtKB/TrEMBL
  H3BP51_HUMAN UniProtKB/TrEMBL
  H3BV09_HUMAN UniProtKB/TrEMBL
  Q69YI8 ENTREZGENE
  Q69YJ0 ENTREZGENE
  Q69YW5 ENTREZGENE
  Q8NEP3 ENTREZGENE
  Q96LP3 ENTREZGENE
  Q96MB6 ENTREZGENE
UniProt Secondary B4DJA3 UniProtKB/Swiss-Prot
  Q69YI8 UniProtKB/Swiss-Prot
  Q69YJ0 UniProtKB/Swiss-Prot
  Q69YW5 UniProtKB/Swiss-Prot
  Q96LP3 UniProtKB/Swiss-Prot
  Q96MB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 DNAAF1  dynein axonemal assembly factor 1  DNAAF1  dynein (axonemal) assembly factor 1  Symbol and/or name change 5135510 APPROVED
2016-03-07 DNAAF1  dynein (axonemal) assembly factor 1  DNAAF1  dynein, axonemal, assembly factor 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 DNAAF1  dynein, axonemal, assembly factor 1  LRRC50  leucine rich repeat containing 50  Symbol and/or name change 5135510 APPROVED