CPA1 (carboxypeptidase A1) - Rat Genome Database

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Gene: CPA1 (carboxypeptidase A1) Homo sapiens
Analyze
Symbol: CPA1
Name: carboxypeptidase A1
RGD ID: 733563
HGNC Page HGNC:2296
Description: Enables metallocarboxypeptidase activity. Predicted to be involved in leukotriene metabolic process and proteolysis. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: carboxypeptidase A1 (pancreatic); CPA; pancreatic carboxypeptidase A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387130,380,494 - 130,388,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7130,380,339 - 130,388,114 (+)EnsemblGRCh38hg38GRCh38
GRCh377130,020,335 - 130,027,949 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367129,807,591 - 129,815,185 (+)NCBINCBI36Build 36hg18NCBI36
Build 347129,614,305 - 129,621,899NCBI
Celera7124,816,055 - 124,823,715 (+)NCBICelera
Cytogenetic Map7q32.2NCBI
HuRef7124,382,393 - 124,390,053 (+)NCBIHuRef
CHM1_17129,953,707 - 129,961,367 (+)NCBICHM1_1
T2T-CHM13v2.07131,694,217 - 131,701,830 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27129,405,674 - 129,413,334 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Changes in carboxypeptidase A, dipeptidase and Na+/K+ ATPase activities in the intestine of rats orally exposed to different doses of cadmium. Eriyamremu GE, etal., Biometals. 2005 Feb;18(1):1-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1417781   PMID:1969228   PMID:2307232   PMID:2920728   PMID:3455919   PMID:7570003   PMID:8806703   PMID:11920156   PMID:12477932   PMID:12690205   PMID:15489334   PMID:17620599  
PMID:18566513   PMID:19179285   PMID:20385563   PMID:21098023   PMID:21502183   PMID:21873635   PMID:23955596   PMID:24522117   PMID:24624459   PMID:27358403   PMID:27409067   PMID:28497564  
PMID:29669919   PMID:32702400   PMID:34774536   PMID:34817877   PMID:34889867   PMID:36555104   PMID:36724073  


Genomics

Comparative Map Data
CPA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387130,380,494 - 130,388,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7130,380,339 - 130,388,114 (+)EnsemblGRCh38hg38GRCh38
GRCh377130,020,335 - 130,027,949 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367129,807,591 - 129,815,185 (+)NCBINCBI36Build 36hg18NCBI36
Build 347129,614,305 - 129,621,899NCBI
Celera7124,816,055 - 124,823,715 (+)NCBICelera
Cytogenetic Map7q32.2NCBI
HuRef7124,382,393 - 124,390,053 (+)NCBIHuRef
CHM1_17129,953,707 - 129,961,367 (+)NCBICHM1_1
T2T-CHM13v2.07131,694,217 - 131,701,830 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27129,405,674 - 129,413,334 (+)NCBI
Cpa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39630,639,217 - 30,645,360 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl630,639,217 - 30,645,362 (+)EnsemblGRCm39 Ensembl
GRCm38630,639,218 - 30,645,361 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl630,639,218 - 30,645,363 (+)EnsemblGRCm38mm10GRCm38
MGSCv37630,589,221 - 30,595,361 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36630,589,231 - 30,595,371 (+)NCBIMGSCv36mm8
Celera630,649,082 - 30,655,216 (+)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.52NCBI
Cpa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8460,224,801 - 60,230,928 (+)NCBIGRCr8
mRatBN7.2459,257,417 - 59,263,544 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl459,257,417 - 59,263,544 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx464,235,436 - 64,241,565 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0460,151,623 - 60,157,752 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0458,553,549 - 58,559,678 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0457,952,982 - 57,959,109 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl457,952,982 - 57,959,109 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0457,713,899 - 57,720,026 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4457,549,260 - 57,555,361 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1457,825,389 - 57,831,491 (+)NCBI
Celera454,356,336 - 54,362,463 (+)NCBICelera
Cytogenetic Map4q22NCBI
Cpa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547911,011,928 - 11,017,908 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547911,011,928 - 11,017,908 (+)NCBIChiLan1.0ChiLan1.0
CPA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26167,198,027 - 167,208,098 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1719,208,271 - 19,218,342 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07122,335,250 - 122,353,369 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17134,862,141 - 134,871,834 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7134,861,920 - 134,871,834 (+)Ensemblpanpan1.1panPan2
CPA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1146,562,729 - 6,569,298 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl146,562,768 - 6,665,659 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha146,252,648 - 6,259,263 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0146,326,968 - 6,333,583 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl146,327,013 - 6,333,529 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1146,531,950 - 6,538,560 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0146,277,162 - 6,283,772 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0146,420,781 - 6,427,394 (-)NCBIUU_Cfam_GSD_1.0
Cpa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511824,764,639 - 24,771,398 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365794,897,225 - 4,903,409 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365794,897,225 - 4,903,409 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1818,469,921 - 18,476,327 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11818,466,564 - 18,482,099 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21819,472,686 - 19,484,824 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CPA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12199,011,941 - 99,021,359 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2199,013,542 - 99,021,350 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660424,380,113 - 4,387,861 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247835,912,447 - 5,918,430 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247835,912,419 - 5,918,446 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPA1
722 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001868.4(CPA1):c.938T>C (p.Met313Thr) single nucleotide variant Hereditary pancreatitis [RCV002370397]|not provided [RCV001907671] Chr7:130385296 [GRCh38]
Chr7:130025137 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3		 pathogenic
NM_001868.3(CPA1):c.151G>A (p.Asp51Asn) single nucleotide variant Malignant melanoma [RCV000067636] Chr7:130381633 [GRCh38]
Chr7:130021474 [GRCh37]
Chr7:129808710 [NCBI36]
Chr7:7q32.2		 not provided
NM_001868.4(CPA1):c.23G>T (p.Ser8Ile) single nucleotide variant Hereditary pancreatitis [RCV002449500]|not provided [RCV001944924] Chr7:130380543 [GRCh38]
Chr7:130020384 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.221C>T (p.Ala74Val) single nucleotide variant Hereditary pancreatitis [RCV002431988]|not provided [RCV001349405] Chr7:130381703 [GRCh38]
Chr7:130021544 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1 copy number loss See cases [RCV000135732] Chr7:130282044..130490317 [GRCh38]
Chr7:129709120..129917394 [NCBI36]
Chr7:7q32.2		 uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_001868.4(CPA1):c.788-5C>G single nucleotide variant Hereditary pancreatitis [RCV002256184]|not provided [RCV001312152]|not specified [RCV000241762] Chr7:130385141 [GRCh38]
Chr7:130024982 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.474C>T (p.Tyr158=) single nucleotide variant Hereditary pancreatitis [RCV002318976]|not provided [RCV001515482]|not specified [RCV000244832] Chr7:130382200 [GRCh38]
Chr7:130022041 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.600C>T (p.Tyr200=) single nucleotide variant Hereditary pancreatitis [RCV002347957]|not provided [RCV001515483]|not specified [RCV000249795] Chr7:130383698 [GRCh38]
Chr7:130023539 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.859A>G (p.Lys287Glu) single nucleotide variant Hereditary pancreatitis [RCV003298598]|not provided [RCV001367926] Chr7:130385217 [GRCh38]
Chr7:130025058 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.847G>A (p.Glu283Lys) single nucleotide variant Hereditary pancreatitis [RCV002448571]|not provided [RCV000522708] Chr7:130385205 [GRCh38]
Chr7:130025046 [GRCh37]
Chr7:7q32.2		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001868.4(CPA1):c.657C>G (p.Ile219Met) single nucleotide variant Hereditary pancreatitis [RCV002365575]|not provided [RCV000430381] Chr7:130383755 [GRCh38]
Chr7:130023596 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001868.4(CPA1):c.463C>G (p.Arg155Gly) single nucleotide variant Hereditary pancreatitis [RCV003301388] Chr7:130382189 [GRCh38]
Chr7:130022030 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.842A>G (p.Asn281Ser) single nucleotide variant Hereditary pancreatitis [RCV004308022] Chr7:130385200 [GRCh38]
Chr7:130025041 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1236G>A (p.Glu412=) single nucleotide variant Hereditary pancreatitis [RCV003301384] Chr7:130387987 [GRCh38]
Chr7:130027828 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp) single nucleotide variant CPA1-related condition [RCV003902818]|Hereditary pancreatitis [RCV002256328]|not provided [RCV000512869] Chr7:130383404 [GRCh38]
Chr7:130023245 [GRCh37]
Chr7:7q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
NM_001868.4(CPA1):c.381+57T>C single nucleotide variant not provided [RCV001641390] Chr7:130381920 [GRCh38]
Chr7:130021761 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.621C>T (p.Thr207=) single nucleotide variant CPA1-related condition [RCV003923298]|Hereditary pancreatitis [RCV002256602]|not provided [RCV000923027] Chr7:130383719 [GRCh38]
Chr7:130023560 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.816G>A (p.Ser272=) single nucleotide variant CPA1-related condition [RCV003913105]|Hereditary pancreatitis [RCV002256603]|not provided [RCV000923028] Chr7:130385174 [GRCh38]
Chr7:130025015 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.604C>A (p.Gln202Lys) single nucleotide variant Hereditary pancreatitis [RCV002346171]|not provided [RCV000965760] Chr7:130383702 [GRCh38]
Chr7:130023543 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.381+7G>C single nucleotide variant not provided [RCV000920251] Chr7:130381870 [GRCh38]
Chr7:130021711 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.775G>T (p.Ala259Ser) single nucleotide variant Hereditary pancreatitis [RCV002409432]|not provided [RCV001051580] Chr7:130384614 [GRCh38]
Chr7:130024455 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001868.4(CPA1):c.330G>T (p.Arg110=) single nucleotide variant Hereditary pancreatitis [RCV002320341]|not provided [RCV001067977] Chr7:130381812 [GRCh38]
Chr7:130021653 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.988-10T>A single nucleotide variant not provided [RCV001046727] Chr7:130385829 [GRCh38]
Chr7:130025670 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.496G>A (p.Gly166Ser) single nucleotide variant Hereditary pancreatitis [RCV004030756]|not provided [RCV001070606] Chr7:130383403 [GRCh38]
Chr7:130023244 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.492G>A (p.Thr164=) single nucleotide variant CPA1-related condition [RCV003925804]|Hereditary pancreatitis [RCV002319130]|not provided [RCV000932716] Chr7:130383399 [GRCh38]
Chr7:130023240 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.768C>G (p.Asn256Lys) single nucleotide variant not provided [RCV001091495] Chr7:130384607 [GRCh38]
Chr7:130024448 [GRCh37]
Chr7:7q32.2		 likely pathogenic
NM_001868.4(CPA1):c.1002G>A (p.Lys334=) single nucleotide variant Hereditary pancreatitis [RCV002318903]|not provided [RCV002549301] Chr7:130385853 [GRCh38]
Chr7:130025694 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.401T>G (p.Leu134Arg) single nucleotide variant Hereditary pancreatitis [RCV002319306] Chr7:130382127 [GRCh38]
Chr7:130021968 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.358G>A (p.Ala120Thr) single nucleotide variant Hereditary pancreatitis [RCV002319265]|not provided [RCV001242987] Chr7:130381840 [GRCh38]
Chr7:130021681 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1144C>T (p.Arg382Trp) single nucleotide variant Early-onset chronic pancreatitis [RCV003225166]|Hereditary pancreatitis [RCV002451599]|not provided [RCV001245889] Chr7:130387895 [GRCh38]
Chr7:130027736 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.691A>G (p.Ser231Gly) single nucleotide variant Hereditary pancreatitis [RCV002375277]|not provided [RCV001241677] Chr7:130383789 [GRCh38]
Chr7:130023630 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.41T>C (p.Val14Ala) single nucleotide variant Hereditary pancreatitis [RCV002327585]|not provided [RCV001242201] Chr7:130380561 [GRCh38]
Chr7:130020402 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1212G>C (p.Trp404Cys) single nucleotide variant Hereditary pancreatitis [RCV002356978]|not provided [RCV001228881] Chr7:130387963 [GRCh38]
Chr7:130027804 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NC_000007.13:g.(?_130020362)_(130667121_?)del deletion not provided [RCV003107518] Chr7:130020362..130667121 [GRCh37]
Chr7:7q32.2-32.3		 uncertain significance
NM_001868.4(CPA1):c.697-64_697-63dup duplication not provided [RCV001638401] Chr7:130384467..130384468 [GRCh38]
Chr7:130024308..130024309 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.321C>T (p.Phe107=) single nucleotide variant CPA1-related condition [RCV003962927]|Hereditary pancreatitis [RCV002409288]|not provided [RCV000975167] Chr7:130381803 [GRCh38]
Chr7:130021644 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.79C>T (p.Arg27Ter) single nucleotide variant Hereditary pancreatitis [RCV002255574]|not provided [RCV000910277] Chr7:130381111 [GRCh38]
Chr7:130020952 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.867T>C (p.Ile289=) single nucleotide variant Hereditary pancreatitis [RCV002255596]|not provided [RCV000953258] Chr7:130385225 [GRCh38]
Chr7:130025066 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.1209G>A (p.Thr403=) single nucleotide variant Hereditary pancreatitis [RCV002318899]|not provided [RCV000906536] Chr7:130387960 [GRCh38]
Chr7:130027801 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.1017C>T (p.Ala339=) single nucleotide variant Hereditary pancreatitis [RCV002318900]|not provided [RCV000930017] Chr7:130385868 [GRCh38]
Chr7:130025709 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.726C>T (p.His242=) single nucleotide variant Hereditary pancreatitis [RCV002382068]|not provided [RCV000910977] Chr7:130384565 [GRCh38]
Chr7:130024406 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1156C>T (p.Arg386Cys) single nucleotide variant Hereditary pancreatitis [RCV002365786]|not provided [RCV001071696] Chr7:130387907 [GRCh38]
Chr7:130027748 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.713A>C (p.Lys238Thr) single nucleotide variant not provided [RCV001243875] Chr7:130384552 [GRCh38]
Chr7:130024393 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.585+9G>A single nucleotide variant not provided [RCV000889218] Chr7:130383501 [GRCh38]
Chr7:130023342 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.148-140C>T single nucleotide variant not provided [RCV001537366] Chr7:130381490 [GRCh38]
Chr7:130021331 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.66-90G>A single nucleotide variant not provided [RCV001688909] Chr7:130381008 [GRCh38]
Chr7:130020849 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.1072+289G>C single nucleotide variant not provided [RCV001682171] Chr7:130386212 [GRCh38]
Chr7:130026053 [GRCh37]
Chr7:7q32.2		 benign
NC_000007.14:g.130388311G>A single nucleotide variant not provided [RCV002469844] Chr7:130388311 [GRCh38]
Chr7:130028152 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1213C>T (p.Leu405=) single nucleotide variant Hereditary pancreatitis [RCV002318921] Chr7:130387964 [GRCh38]
Chr7:130027805 [GRCh37]
Chr7:7q32.2		 likely benign
GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3 copy number gain not provided [RCV001006011] Chr7:129997717..133355098 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
NM_001868.4(CPA1):c.486C>T (p.Phe162=) single nucleotide variant Hereditary pancreatitis [RCV002319376]|not provided [RCV001519647] Chr7:130383393 [GRCh38]
Chr7:130023234 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.484-53A>G single nucleotide variant not provided [RCV001688747] Chr7:130383338 [GRCh38]
Chr7:130023179 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.696+27del deletion not provided [RCV001687080] Chr7:130383817 [GRCh38]
Chr7:130023658 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.1073-32A>G single nucleotide variant not provided [RCV001620370] Chr7:130387792 [GRCh38]
Chr7:130027633 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.405G>C (p.Leu135=) single nucleotide variant Hereditary pancreatitis [RCV002319310]|not provided [RCV001424455] Chr7:130382131 [GRCh38]
Chr7:130021972 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.506G>A (p.Arg169His) single nucleotide variant Hereditary pancreatitis [RCV002319395]|not provided [RCV002067663] Chr7:130383413 [GRCh38]
Chr7:130023254 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1203G>A (p.Lys401=) single nucleotide variant Hereditary pancreatitis [RCV002318920]|not provided [RCV002068825] Chr7:130387954 [GRCh38]
Chr7:130027795 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser) single nucleotide variant Hereditary pancreatitis [RCV002445197]|not provided [RCV001229837] Chr7:130385187 [GRCh38]
Chr7:130025028 [GRCh37]
Chr7:7q32.2		 likely pathogenic|uncertain significance
NM_001868.4(CPA1):c.542G>A (p.Arg181Gln) single nucleotide variant Hereditary pancreatitis [RCV002319633]|not provided [RCV002551887] Chr7:130383449 [GRCh38]
Chr7:130023290 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg) single nucleotide variant Hereditary pancreatitis [RCV002255602]|not provided [RCV001247645] Chr7:130381763 [GRCh38]
Chr7:130021604 [GRCh37]
Chr7:7q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001868.4(CPA1):c.622G>A (p.Ala208Thr) single nucleotide variant Hereditary pancreatitis [RCV002354932]|not provided [RCV001517260] Chr7:130383720 [GRCh38]
Chr7:130023561 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.987+182G>C single nucleotide variant not provided [RCV001691052] Chr7:130385527 [GRCh38]
Chr7:130025368 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.697-260C>G single nucleotide variant not provided [RCV001648920] Chr7:130384276 [GRCh38]
Chr7:130024117 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.787+234G>C single nucleotide variant not provided [RCV001680067] Chr7:130384860 [GRCh38]
Chr7:130024701 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.1258T>C (p.Ter420Arg) single nucleotide variant Hereditary pancreatitis [RCV002318932] Chr7:130388009 [GRCh38]
Chr7:130027850 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.65+143A>G single nucleotide variant not provided [RCV001611467] Chr7:130380728 [GRCh38]
Chr7:130020569 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.820A>G (p.Thr274Ala) single nucleotide variant Hereditary pancreatitis [RCV002445189] Chr7:130385178 [GRCh38]
Chr7:130025019 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.845C>G (p.Ser282Cys) single nucleotide variant not provided [RCV001041312] Chr7:130385203 [GRCh38]
Chr7:130025044 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1099T>C (p.Trp367Arg) single nucleotide variant not provided [RCV001051575] Chr7:130387850 [GRCh38]
Chr7:130027691 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-3C>A single nucleotide variant Hereditary pancreatitis [RCV002337077]|not provided [RCV002067676] Chr7:130383681 [GRCh38]
Chr7:130023522 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.65+3del deletion Hereditary pancreatitis [RCV002354953]|not provided [RCV001419046] Chr7:130380588 [GRCh38]
Chr7:130020429 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.695C>T (p.Thr232Met) single nucleotide variant Hereditary pancreatitis [RCV002391083]|not provided [RCV001517271] Chr7:130383793 [GRCh38]
Chr7:130023634 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.787T>C (p.Leu263=) single nucleotide variant Hereditary pancreatitis [RCV002434413]|not provided [RCV001343037] Chr7:130384626 [GRCh38]
Chr7:130024467 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1122G>A (p.Lys374=) single nucleotide variant Hereditary pancreatitis [RCV002318908] Chr7:130387873 [GRCh38]
Chr7:130027714 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.421C>T (p.His141Tyr) single nucleotide variant Hereditary pancreatitis [RCV002319330] Chr7:130382147 [GRCh38]
Chr7:130021988 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1230C>T (p.Ile410=) single nucleotide variant Hereditary pancreatitis [RCV002318926] Chr7:130387981 [GRCh38]
Chr7:130027822 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) single nucleotide variant Hereditary pancreatitis [RCV002258085]|not provided [RCV001402994] Chr7:130385872 [GRCh38]
Chr7:130025713 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.1072+1G>T single nucleotide variant Hereditary pancreatitis [RCV002320219] Chr7:130385924 [GRCh38]
Chr7:130025765 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.599_600delinsG (p.Tyr200fs) indel Hereditary pancreatitis [RCV002346224] Chr7:130383697..130383698 [GRCh38]
Chr7:130023538..130023539 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.5G>A (p.Arg2Gln) single nucleotide variant CPA1-related condition [RCV003918646]|Hereditary pancreatitis [RCV002346226]|not provided [RCV001475985] Chr7:130380525 [GRCh38]
Chr7:130020366 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.846C>A (p.Ser282=) single nucleotide variant Hereditary pancreatitis [RCV002346215] Chr7:130385204 [GRCh38]
Chr7:130025045 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary pancreatitis [RCV002346217]|not provided [RCV002549469] Chr7:130380522 [GRCh38]
Chr7:130020363 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.630C>T (p.Leu210=) single nucleotide variant Hereditary pancreatitis [RCV002354937]|not provided [RCV001428447] Chr7:130383728 [GRCh38]
Chr7:130023569 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.709C>T (p.Arg237Cys) single nucleotide variant Hereditary pancreatitis [RCV002366025]|not provided [RCV001229465] Chr7:130384548 [GRCh38]
Chr7:130024389 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.159G>C (p.Trp53Cys) single nucleotide variant Hereditary pancreatitis [RCV002319164] Chr7:130381641 [GRCh38]
Chr7:130021482 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.686C>A (p.Thr229Lys) single nucleotide variant Hereditary pancreatitis [RCV002382256]|not provided [RCV003769613] Chr7:130383784 [GRCh38]
Chr7:130023625 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3 copy number gain not provided [RCV001258971] Chr7:129605827..133093756 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
NM_001868.4(CPA1):c.419C>T (p.Pro140Leu) single nucleotide variant Hereditary pancreatitis [RCV002329335]|not provided [RCV001348298] Chr7:130382145 [GRCh38]
Chr7:130021986 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.409G>A (p.Ala137Thr) single nucleotide variant Hereditary pancreatitis [RCV003166659]|not provided [RCV001297279] Chr7:130382135 [GRCh38]
Chr7:130021976 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.776C>T (p.Ala259Val) single nucleotide variant Hereditary pancreatitis [RCV003166754]|not provided [RCV001307869] Chr7:130384615 [GRCh38]
Chr7:130024456 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.635C>G (p.Thr212Ser) single nucleotide variant Hereditary pancreatitis [RCV002366126]|not provided [RCV001298380] Chr7:130383733 [GRCh38]
Chr7:130023574 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1157G>A (p.Arg386His) single nucleotide variant Hereditary pancreatitis [RCV002357174]|not provided [RCV001337182] Chr7:130387908 [GRCh38]
Chr7:130027749 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.696G>A (p.Thr232=) single nucleotide variant Hereditary pancreatitis [RCV002377496]|not provided [RCV001351821] Chr7:130383794 [GRCh38]
Chr7:130023635 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.635C>A (p.Thr212Asn) single nucleotide variant Hereditary pancreatitis [RCV002366145]|not provided [RCV001304073] Chr7:130383733 [GRCh38]
Chr7:130023574 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.92C>G (p.Ala31Gly) single nucleotide variant not provided [RCV001296526] Chr7:130381124 [GRCh38]
Chr7:130020965 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.582G>A (p.Lys194=) single nucleotide variant Hereditary pancreatitis [RCV002358971]|not provided [RCV001433382] Chr7:130383489 [GRCh38]
Chr7:130023330 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.131A>C (p.Asp44Ala) single nucleotide variant Hereditary pancreatitis [RCV002379998]|not provided [RCV001297656] Chr7:130381163 [GRCh38]
Chr7:130021004 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.943C>A (p.Pro315Thr) single nucleotide variant not provided [RCV001372590] Chr7:130385301 [GRCh38]
Chr7:130025142 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.410C>G (p.Ala137Gly) single nucleotide variant Hereditary pancreatitis [RCV002322419]|not provided [RCV001414936] Chr7:130382136 [GRCh38]
Chr7:130021977 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.491C>T (p.Thr164Met) single nucleotide variant not provided [RCV001349285] Chr7:130383398 [GRCh38]
Chr7:130023239 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.497G>C (p.Gly166Ala) single nucleotide variant not provided [RCV001362088] Chr7:130383404 [GRCh38]
Chr7:130023245 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.523G>A (p.Asp175Asn) single nucleotide variant Hereditary pancreatitis [RCV003294307]|not provided [RCV001326336] Chr7:130383430 [GRCh38]
Chr7:130023271 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1033G>A (p.Gly345Arg) single nucleotide variant not provided [RCV001364134] Chr7:130385884 [GRCh38]
Chr7:130025725 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1071T>A (p.Ile357=) single nucleotide variant Hereditary pancreatitis [RCV003169654]|not provided [RCV001343646] Chr7:130385922 [GRCh38]
Chr7:130025763 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.86C>G (p.Ser29Cys) single nucleotide variant Hereditary pancreatitis [RCV002447470]|not provided [RCV001365061] Chr7:130381118 [GRCh38]
Chr7:130020959 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.686C>T (p.Thr229Met) single nucleotide variant Hereditary pancreatitis [RCV002368140]|not provided [RCV001346861] Chr7:130383784 [GRCh38]
Chr7:130023625 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1193C>T (p.Pro398Leu) single nucleotide variant Hereditary pancreatitis [RCV002350640]|not provided [RCV001346862] Chr7:130387944 [GRCh38]
Chr7:130027785 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.4C>T (p.Arg2Trp) single nucleotide variant Hereditary pancreatitis [RCV002339720]|not provided [RCV001296259] Chr7:130380524 [GRCh38]
Chr7:130020365 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.226A>G (p.Lys76Glu) single nucleotide variant Hereditary pancreatitis [RCV002447367]|not provided [RCV001323251] Chr7:130381708 [GRCh38]
Chr7:130021549 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1016C>A (p.Ala339Asp) single nucleotide variant Hereditary pancreatitis [RCV002350573]|not provided [RCV001314949] Chr7:130385867 [GRCh38]
Chr7:130025708 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.527C>T (p.Thr176Met) single nucleotide variant Hereditary pancreatitis [RCV002350618]|not provided [RCV001340252] Chr7:130383434 [GRCh38]
Chr7:130023275 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.284C>T (p.Ser95Leu) single nucleotide variant Hereditary pancreatitis [RCV002438856]|not provided [RCV001367593] Chr7:130381766 [GRCh38]
Chr7:130021607 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1137C>A (p.Phe379Leu) single nucleotide variant Hereditary pancreatitis [RCV004037483]|not provided [RCV001370858] Chr7:130387888 [GRCh38]
Chr7:130027729 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.696+5C>T single nucleotide variant Hereditary pancreatitis [RCV002259106]|not provided [RCV001340634] Chr7:130383799 [GRCh38]
Chr7:130023640 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.343G>C (p.Asp115His) single nucleotide variant Hereditary pancreatitis [RCV004037010]|not provided [RCV001367442] Chr7:130381825 [GRCh38]
Chr7:130021666 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1145G>A (p.Arg382Gln) single nucleotide variant Hereditary pancreatitis [RCV002456424]|not provided [RCV001317457] Chr7:130387896 [GRCh38]
Chr7:130027737 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.201G>T (p.Val67=) single nucleotide variant Hereditary pancreatitis [RCV002420953]|not provided [RCV001424927] Chr7:130381683 [GRCh38]
Chr7:130021524 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.834G>A (p.Lys278=) single nucleotide variant Hereditary pancreatitis [RCV002439139]|not provided [RCV001476134] Chr7:130385192 [GRCh38]
Chr7:130025033 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.861G>A (p.Lys287=) single nucleotide variant Hereditary pancreatitis [RCV002449263]|not provided [RCV001476168] Chr7:130385219 [GRCh38]
Chr7:130025060 [GRCh37]
Chr7:7q32.2		 likely benign
NC_000007.14:g.130380224C>T single nucleotide variant not provided [RCV001538320] Chr7:130380224 [GRCh38]
Chr7:130020065 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.657C>T (p.Ile219=) single nucleotide variant Hereditary pancreatitis [RCV002377881]|not provided [RCV001504292] Chr7:130383755 [GRCh38]
Chr7:130023596 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.65+3A>G single nucleotide variant Hereditary pancreatitis [RCV002368494]|not provided [RCV001487203] Chr7:130380588 [GRCh38]
Chr7:130020429 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.585+8C>T single nucleotide variant not provided [RCV001484379] Chr7:130383500 [GRCh38]
Chr7:130023341 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.828C>T (p.His276=) single nucleotide variant Hereditary pancreatitis [RCV002432114]|not provided [RCV001404365] Chr7:130385186 [GRCh38]
Chr7:130025027 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1137C>T (p.Phe379=) single nucleotide variant Hereditary pancreatitis [RCV002322469]|not provided [RCV001443725] Chr7:130387888 [GRCh38]
Chr7:130027729 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.381+9G>A single nucleotide variant not provided [RCV001407536] Chr7:130381872 [GRCh38]
Chr7:130021713 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1072+10C>T single nucleotide variant not provided [RCV001429349] Chr7:130385933 [GRCh38]
Chr7:130025774 [GRCh37]
Chr7:7q32.2		 likely benign
NC_000007.14:g.130380075C>A single nucleotide variant not provided [RCV001527829] Chr7:130380075 [GRCh38]
Chr7:130019916 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.825C>T (p.Tyr275=) single nucleotide variant CPA1-related condition [RCV003980405]|Hereditary pancreatitis [RCV002432342]|not provided [RCV001479108] Chr7:130385183 [GRCh38]
Chr7:130025024 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.522C>T (p.Ile174=) single nucleotide variant Hereditary pancreatitis [RCV002342057]|not provided [RCV001469919] Chr7:130383429 [GRCh38]
Chr7:130023270 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1072+131A>G single nucleotide variant not provided [RCV001673722] Chr7:130386054 [GRCh38]
Chr7:130025895 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.148-4C>T single nucleotide variant Hereditary pancreatitis [RCV002388534]|not provided [RCV001497827] Chr7:130381626 [GRCh38]
Chr7:130021467 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.273G>A (p.Glu91=) single nucleotide variant Hereditary pancreatitis [RCV002438916]|not provided [RCV001399603] Chr7:130381755 [GRCh38]
Chr7:130021596 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.585+7C>T single nucleotide variant not provided [RCV001403280] Chr7:130383499 [GRCh38]
Chr7:130023340 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1032C>T (p.Tyr344=) single nucleotide variant Hereditary pancreatitis [RCV002396084]|not provided [RCV001460599] Chr7:130385883 [GRCh38]
Chr7:130025724 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.792C>G (p.Ser264=) single nucleotide variant Hereditary pancreatitis [RCV002421020]|not provided [RCV001451803] Chr7:130385150 [GRCh38]
Chr7:130024991 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.*97A>C single nucleotide variant not provided [RCV001757795] Chr7:130388108 [GRCh38]
Chr7:130027949 [GRCh37]
Chr7:7q32.2		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001868.4(CPA1):c.65+174C>T single nucleotide variant not provided [RCV001759364] Chr7:130380759 [GRCh38]
Chr7:130020600 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.718C>T (p.Arg240Trp) single nucleotide variant Hereditary pancreatitis [RCV002370582]|not provided [RCV001950514] Chr7:130384557 [GRCh38]
Chr7:130024398 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.607G>A (p.Asp203Asn) single nucleotide variant Hereditary pancreatitis [RCV002352682]|not provided [RCV001970811] Chr7:130383705 [GRCh38]
Chr7:130023546 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.787+1G>A single nucleotide variant Hereditary pancreatitis [RCV004040570]|not provided [RCV001874904] Chr7:130384627 [GRCh38]
Chr7:130024468 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.346A>G (p.Thr116Ala) single nucleotide variant Hereditary pancreatitis [RCV002458767]|not provided [RCV001908843] Chr7:130381828 [GRCh38]
Chr7:130021669 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.401del (p.Leu134fs) deletion Hereditary pancreatitis [RCV002370461]|not provided [RCV001896133] Chr7:130382127 [GRCh38]
Chr7:130021968 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1228A>G (p.Ile410Val) single nucleotide variant Hereditary pancreatitis [RCV003303252]|not provided [RCV001874465] Chr7:130387979 [GRCh38]
Chr7:130027820 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.815C>T (p.Ser272Leu) single nucleotide variant Hereditary pancreatitis [RCV002423117]|not provided [RCV001982729] Chr7:130385173 [GRCh38]
Chr7:130025014 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1022C>A (p.Ala341Asp) single nucleotide variant Hereditary pancreatitis [RCV003170404]|not provided [RCV002003779] Chr7:130385873 [GRCh38]
Chr7:130025714 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1202del (p.Lys401fs) deletion not provided [RCV001911283] Chr7:130387952 [GRCh38]
Chr7:130027793 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.80G>A (p.Arg27Gln) single nucleotide variant Hereditary pancreatitis [RCV002423129]|not provided [RCV002021822] Chr7:130381112 [GRCh38]
Chr7:130020953 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.793G>A (p.Gly265Arg) single nucleotide variant Hereditary pancreatitis [RCV002422895]|not provided [RCV002041893] Chr7:130385151 [GRCh38]
Chr7:130024992 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.197G>A (p.Arg66Gln) single nucleotide variant Hereditary pancreatitis [RCV002423076]|not provided [RCV001964837] Chr7:130381679 [GRCh38]
Chr7:130021520 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.55G>T (p.Asp19Tyr) single nucleotide variant not provided [RCV002003073] Chr7:130380575 [GRCh38]
Chr7:130020416 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_001868.4(CPA1):c.987+12C>A single nucleotide variant not provided [RCV002024225] Chr7:130385357 [GRCh38]
Chr7:130025198 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.432C>G (p.Ser144Arg) single nucleotide variant Hereditary pancreatitis [RCV002331550]|not provided [RCV001967066] Chr7:130382158 [GRCh38]
Chr7:130021999 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.710G>A (p.Arg237His) single nucleotide variant not provided [RCV001966967] Chr7:130384549 [GRCh38]
Chr7:130024390 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.446G>C (p.Gly149Ala) single nucleotide variant Hereditary pancreatitis [RCV003382751]|not provided [RCV001965532] Chr7:130382172 [GRCh38]
Chr7:130022013 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1192C>T (p.Pro398Ser) single nucleotide variant Hereditary pancreatitis [RCV002334823]|not provided [RCV001893361] Chr7:130387943 [GRCh38]
Chr7:130027784 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.937_938del (p.Met313fs) deletion not provided [RCV001907926] Chr7:130385295..130385296 [GRCh38]
Chr7:130025136..130025137 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.851T>C (p.Val284Ala) single nucleotide variant Hereditary pancreatitis [RCV003303311]|not provided [RCV001908630] Chr7:130385209 [GRCh38]
Chr7:130025050 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.673G>A (p.Gly225Ser) single nucleotide variant not provided [RCV002004001] Chr7:130383771 [GRCh38]
Chr7:130023612 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
NM_001868.4(CPA1):c.208C>T (p.Pro70Ser) single nucleotide variant Hereditary pancreatitis [RCV004042989]|not provided [RCV001962832] Chr7:130381690 [GRCh38]
Chr7:130021531 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.834G>C (p.Lys278Asn) single nucleotide variant Hereditary pancreatitis [RCV002441037]|not provided [RCV001938302] Chr7:130385192 [GRCh38]
Chr7:130025033 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.865A>G (p.Ile289Val) single nucleotide variant Hereditary pancreatitis [RCV002370539]|not provided [RCV001924052] Chr7:130385223 [GRCh38]
Chr7:130025064 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.751G>C (p.Val251Leu) single nucleotide variant not provided [RCV001887752] Chr7:130384590 [GRCh38]
Chr7:130024431 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.975C>G (p.Asp325Glu) single nucleotide variant not provided [RCV001866408] Chr7:130385333 [GRCh38]
Chr7:130025174 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1151C>T (p.Thr384Ile) single nucleotide variant Hereditary pancreatitis [RCV002352628]|not provided [RCV001982458] Chr7:130387902 [GRCh38]
Chr7:130027743 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.52G>A (p.Glu18Lys) single nucleotide variant not provided [RCV002000603] Chr7:130380572 [GRCh38]
Chr7:130020413 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.307C>T (p.Gln103Ter) single nucleotide variant not provided [RCV002011220] Chr7:130381789 [GRCh38]
Chr7:130021630 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.397G>C (p.Asp133His) single nucleotide variant Hereditary pancreatitis [RCV002359291]|not provided [RCV001866853] Chr7:130382123 [GRCh38]
Chr7:130021964 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1217C>T (p.Ala406Val) single nucleotide variant Hereditary pancreatitis [RCV002352636]|not provided [RCV001996577] Chr7:130387968 [GRCh38]
Chr7:130027809 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1112A>G (p.Gln371Arg) single nucleotide variant Hereditary pancreatitis [RCV002441068]|not provided [RCV001941038] Chr7:130387863 [GRCh38]
Chr7:130027704 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.494G>A (p.Gly165Glu) single nucleotide variant Hereditary pancreatitis [RCV004044587]|not provided [RCV001979630] Chr7:130383401 [GRCh38]
Chr7:130023242 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.793G>T (p.Gly265Ter) single nucleotide variant not provided [RCV001903150] Chr7:130385151 [GRCh38]
Chr7:130024992 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1243del (p.Thr414_Leu415insTer) deletion not provided [RCV001904818] Chr7:130387992 [GRCh38]
Chr7:130027833 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1153G>A (p.Gly385Arg) single nucleotide variant not provided [RCV001903638] Chr7:130387904 [GRCh38]
Chr7:130027745 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-2A>G single nucleotide variant Hereditary pancreatitis [RCV002352741]|not provided [RCV002011660] Chr7:130383682 [GRCh38]
Chr7:130023523 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.607_608insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCACCACGATGGGAGGCCGAGGCGCGCGGATCACGAGGTCAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTACGGGCAGG (p.Asp203fs) insertion not provided [RCV001897932] Chr7:130383690..130383691 [GRCh38]
Chr7:130023531..130023532 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.40G>C (p.Val14Leu) single nucleotide variant Hereditary pancreatitis [RCV002324351]|not provided [RCV001936456] Chr7:130380560 [GRCh38]
Chr7:130020401 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.114G>C (p.Lys38Asn) single nucleotide variant Hereditary pancreatitis [RCV002458769]|not provided [RCV001901498] Chr7:130381146 [GRCh38]
Chr7:130020987 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.329G>A (p.Arg110Gln) single nucleotide variant Hereditary pancreatitis [RCV002324339]|not provided [RCV001923812] Chr7:130381811 [GRCh38]
Chr7:130021652 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.298G>A (p.Glu100Lys) single nucleotide variant Hereditary pancreatitis [RCV003167348]|not provided [RCV001940800] Chr7:130381780 [GRCh38]
Chr7:130021621 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.322C>T (p.Arg108Trp) single nucleotide variant Hereditary pancreatitis [RCV002324236]|not provided [RCV002049535] Chr7:130381804 [GRCh38]
Chr7:130021645 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.779G>A (p.Gly260Asp) single nucleotide variant Hereditary pancreatitis [RCV003375555]|not provided [RCV002009580] Chr7:130384618 [GRCh38]
Chr7:130024459 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.796G>C (p.Ala266Pro) single nucleotide variant Hereditary pancreatitis [RCV002406934]|not provided [RCV001866929] Chr7:130385154 [GRCh38]
Chr7:130024995 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.203C>A (p.Pro68His) single nucleotide variant not provided [RCV001995362] Chr7:130381685 [GRCh38]
Chr7:130021526 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.719G>A (p.Arg240Gln) single nucleotide variant not provided [RCV001906582] Chr7:130384558 [GRCh38]
Chr7:130024399 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.295G>A (p.Glu99Lys) single nucleotide variant Hereditary pancreatitis [RCV002441069]|not provided [RCV001981907] Chr7:130381777 [GRCh38]
Chr7:130021618 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala) single nucleotide variant Hereditary pancreatitis [RCV002359359]|not provided [RCV001884406] Chr7:130382115 [GRCh38]
Chr7:130021956 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.763A>T (p.Arg255Trp) single nucleotide variant Hereditary pancreatitis [RCV003303487]|not provided [RCV001989982] Chr7:130384602 [GRCh38]
Chr7:130024443 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.399C>A (p.Asp133Glu) single nucleotide variant not provided [RCV002028929] Chr7:130382125 [GRCh38]
Chr7:130021966 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.65+4G>A single nucleotide variant not provided [RCV001918712] Chr7:130380589 [GRCh38]
Chr7:130020430 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.751G>A (p.Val251Met) single nucleotide variant Hereditary pancreatitis [RCV002388810]|not provided [RCV001935211] Chr7:130384590 [GRCh38]
Chr7:130024431 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.93C>T (p.Ala31=) single nucleotide variant Hereditary pancreatitis [RCV002370686]|not provided [RCV001996189] Chr7:130381125 [GRCh38]
Chr7:130020966 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.218A>G (p.Gln73Arg) single nucleotide variant Hereditary pancreatitis [RCV002425123]|not provided [RCV001878583] Chr7:130381700 [GRCh38]
Chr7:130021541 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.830G>A (p.Gly277Asp) single nucleotide variant not provided [RCV001976051] Chr7:130385188 [GRCh38]
Chr7:130025029 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.959C>G (p.Thr320Arg) single nucleotide variant not provided [RCV002030331] Chr7:130385317 [GRCh38]
Chr7:130025158 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1072+18C>T single nucleotide variant not provided [RCV002190632] Chr7:130385941 [GRCh38]
Chr7:130025782 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.696+14C>A single nucleotide variant not provided [RCV002210809] Chr7:130383808 [GRCh38]
Chr7:130023649 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.894C>T (p.Asn298=) single nucleotide variant Hereditary pancreatitis [RCV002372888]|not provided [RCV002088096] Chr7:130385252 [GRCh38]
Chr7:130025093 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1218G>A (p.Ala406=) single nucleotide variant Hereditary pancreatitis [RCV002363608]|not provided [RCV002109653] Chr7:130387969 [GRCh38]
Chr7:130027810 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.988-7T>C single nucleotide variant not provided [RCV002109654] Chr7:130385832 [GRCh38]
Chr7:130025673 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.759C>G (p.Pro253=) single nucleotide variant Hereditary pancreatitis [RCV002391226]|not provided [RCV002097527] Chr7:130384598 [GRCh38]
Chr7:130024439 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.141C>T (p.His47=) single nucleotide variant Hereditary pancreatitis [RCV002391186]|not provided [RCV002205055] Chr7:130381173 [GRCh38]
Chr7:130021014 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.484-18C>A single nucleotide variant not provided [RCV002091418] Chr7:130383373 [GRCh38]
Chr7:130023214 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.586-20C>T single nucleotide variant not provided [RCV002093955] Chr7:130383664 [GRCh38]
Chr7:130023505 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.165G>A (p.Gly55=) single nucleotide variant Hereditary pancreatitis [RCV002391356]|not provided [RCV002194440] Chr7:130381647 [GRCh38]
Chr7:130021488 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.36G>A (p.Gly12=) single nucleotide variant Hereditary pancreatitis [RCV002352953]|not provided [RCV002213815] Chr7:130380556 [GRCh38]
Chr7:130020397 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.148-11del deletion not provided [RCV002149540] Chr7:130381619 [GRCh38]
Chr7:130021460 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.484-20C>A single nucleotide variant not provided [RCV002096615] Chr7:130383371 [GRCh38]
Chr7:130023212 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1107C>T (p.Tyr369=) single nucleotide variant not provided [RCV002079614] Chr7:130387858 [GRCh38]
Chr7:130027699 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.148-13_148-12del deletion not provided [RCV002172806] Chr7:130381617..130381618 [GRCh38]
Chr7:130021458..130021459 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1073-11T>C single nucleotide variant not provided [RCV002202775] Chr7:130387813 [GRCh38]
Chr7:130027654 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.788-5C>A single nucleotide variant Hereditary pancreatitis [RCV002407364]|not provided [RCV002199914] Chr7:130385141 [GRCh38]
Chr7:130024982 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1089C>T (p.Ser363=) single nucleotide variant Hereditary pancreatitis [RCV002443194]|not provided [RCV002160253] Chr7:130387840 [GRCh38]
Chr7:130027681 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.75G>C (p.Val25=) single nucleotide variant Hereditary pancreatitis [RCV002391265]|not provided [RCV002141536] Chr7:130381107 [GRCh38]
Chr7:130020948 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.160C>A (p.Arg54=) single nucleotide variant Hereditary pancreatitis [RCV002391229]|not provided [RCV002102742] Chr7:130381642 [GRCh38]
Chr7:130021483 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.93C>G (p.Ala31=) single nucleotide variant Hereditary pancreatitis [RCV002372965]|not provided [RCV002084331] Chr7:130381125 [GRCh38]
Chr7:130020966 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.792C>T (p.Ser264=) single nucleotide variant Hereditary pancreatitis [RCV002416417]|not provided [RCV002100625] Chr7:130385150 [GRCh38]
Chr7:130024991 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.345C>T (p.Asp115=) single nucleotide variant Hereditary pancreatitis [RCV002454392]|not provided [RCV002204728] Chr7:130381827 [GRCh38]
Chr7:130021668 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.774C>T (p.Asp258=) single nucleotide variant Hereditary pancreatitis [RCV002255733]|not provided [RCV002176421] Chr7:130384613 [GRCh38]
Chr7:130024454 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.762C>T (p.Asn254=) single nucleotide variant Hereditary pancreatitis [RCV002391335]|not provided [RCV002161256] Chr7:130384601 [GRCh38]
Chr7:130024442 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.204C>T (p.Pro68=) single nucleotide variant Hereditary pancreatitis [RCV002416493]|not provided [RCV002138746] Chr7:130381686 [GRCh38]
Chr7:130021527 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.66-11A>T single nucleotide variant Hereditary pancreatitis [RCV002256902]|not provided [RCV002200197] Chr7:130381087 [GRCh38]
Chr7:130020928 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.65+14G>A single nucleotide variant not provided [RCV002082000] Chr7:130380599 [GRCh38]
Chr7:130020440 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1072+16G>C single nucleotide variant not provided [RCV002117826] Chr7:130385939 [GRCh38]
Chr7:130025780 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.633C>T (p.Asp211=) single nucleotide variant Hereditary pancreatitis [RCV002363631]|not provided [RCV002183144] Chr7:130383731 [GRCh38]
Chr7:130023572 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.788-6C>G single nucleotide variant not provided [RCV002104183] Chr7:130385140 [GRCh38]
Chr7:130024981 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.291G>A (p.Leu97=) single nucleotide variant Hereditary pancreatitis [RCV002434554]|not provided [RCV002124051] Chr7:130381773 [GRCh38]
Chr7:130021614 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.381+18G>A single nucleotide variant not provided [RCV002202634] Chr7:130381881 [GRCh38]
Chr7:130021722 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1173G>A (p.Leu391=) single nucleotide variant not provided [RCV002121085] Chr7:130387924 [GRCh38]
Chr7:130027765 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1129T>C (p.Phe377Leu) single nucleotide variant Hereditary pancreatitis [RCV003384357]|not provided [RCV003112684] Chr7:130387880 [GRCh38]
Chr7:130027721 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.697-20G>C single nucleotide variant not provided [RCV003117244] Chr7:130384516 [GRCh38]
Chr7:130024357 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.700C>T (p.Arg234Cys) single nucleotide variant Hereditary pancreatitis [RCV004244601]|not provided [RCV003117930] Chr7:130384539 [GRCh38]
Chr7:130024380 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.148-6C>G single nucleotide variant not provided [RCV003118510] Chr7:130381624 [GRCh38]
Chr7:130021465 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.412G>A (p.Glu138Lys) single nucleotide variant Hereditary pancreatitis [RCV003162148]|not provided [RCV003121399] Chr7:130382138 [GRCh38]
Chr7:130021979 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1073-10C>T single nucleotide variant Hereditary pancreatitis [RCV002257295] Chr7:130387814 [GRCh38]
Chr7:130027655 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.696+6G>A single nucleotide variant Hereditary pancreatitis [RCV002259241] Chr7:130383800 [GRCh38]
Chr7:130023641 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.692G>A (p.Ser231Asn) single nucleotide variant Hereditary pancreatitis [RCV002259240] Chr7:130383790 [GRCh38]
Chr7:130023631 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.369C>T (p.His123=) single nucleotide variant Hereditary pancreatitis [RCV002348875] Chr7:130381851 [GRCh38]
Chr7:130021692 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.800G>T (p.Ser267Ile) single nucleotide variant Hereditary pancreatitis [RCV002419211] Chr7:130385158 [GRCh38]
Chr7:130024999 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.66-3C>T single nucleotide variant Hereditary pancreatitis [RCV002366785] Chr7:130381095 [GRCh38]
Chr7:130020936 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1085G>A (p.Gly362Glu) single nucleotide variant not provided [RCV002276177] Chr7:130387836 [GRCh38]
Chr7:130027677 [GRCh37]
Chr7:7q32.2		 likely pathogenic
NM_001868.4(CPA1):c.387T>C (p.Tyr129=) single nucleotide variant Hereditary pancreatitis [RCV002366308] Chr7:130382113 [GRCh38]
Chr7:130021954 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.*16C>A single nucleotide variant not provided [RCV002269420] Chr7:130388027 [GRCh38]
Chr7:130027868 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.386A>G (p.Tyr129Cys) single nucleotide variant Hereditary pancreatitis [RCV002366253] Chr7:130382112 [GRCh38]
Chr7:130021953 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1151C>G (p.Thr384Ser) single nucleotide variant Hereditary pancreatitis [RCV002348946] Chr7:130387902 [GRCh38]
Chr7:130027743 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.33G>T (p.Leu11Phe) single nucleotide variant Hereditary pancreatitis [RCV002452059] Chr7:130380553 [GRCh38]
Chr7:130020394 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1011G>A (p.Val337=) single nucleotide variant Hereditary pancreatitis [RCV002452076] Chr7:130385862 [GRCh38]
Chr7:130025703 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.619A>C (p.Thr207Pro) single nucleotide variant Hereditary pancreatitis [RCV002366426]|not provided [RCV003560976] Chr7:130383717 [GRCh38]
Chr7:130023558 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.798C>T (p.Ala266=) single nucleotide variant Hereditary pancreatitis [RCV002419071] Chr7:130385156 [GRCh38]
Chr7:130024997 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.79C>A (p.Arg27=) single nucleotide variant Hereditary pancreatitis [RCV002419140] Chr7:130381111 [GRCh38]
Chr7:130020952 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.8_9dup (p.Leu4fs) duplication Hereditary pancreatitis [RCV002419183]|not provided [RCV003776471] Chr7:130380524..130380525 [GRCh38]
Chr7:130020365..130020366 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1152T>A (p.Thr384=) single nucleotide variant Hereditary pancreatitis [RCV002349246] Chr7:130387903 [GRCh38]
Chr7:130027744 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1219C>T (p.Leu407Phe) single nucleotide variant Hereditary pancreatitis [RCV002366632]|not provided [RCV003718531] Chr7:130387970 [GRCh38]
Chr7:130027811 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001868.4(CPA1):c.540C>T (p.Ser180=) single nucleotide variant Hereditary pancreatitis [RCV002349407] Chr7:130383447 [GRCh38]
Chr7:130023288 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1228_1251dup (p.His417_Pro418insIleMetGluHisThrLeuAsnHis) duplication Hereditary pancreatitis [RCV002366885]|not provided [RCV003103313] Chr7:130387977..130387978 [GRCh38]
Chr7:130027818..130027819 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.710G>T (p.Arg237Leu) single nucleotide variant Hereditary pancreatitis [RCV002367404] Chr7:130384549 [GRCh38]
Chr7:130024390 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.811T>G (p.Cys271Gly) single nucleotide variant Hereditary pancreatitis [RCV002421294] Chr7:130385169 [GRCh38]
Chr7:130025010 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.356A>G (p.Tyr119Cys) single nucleotide variant Hereditary pancreatitis [RCV002454980] Chr7:130381838 [GRCh38]
Chr7:130021679 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.552C>T (p.Val184=) single nucleotide variant Hereditary pancreatitis [RCV002351813] Chr7:130383459 [GRCh38]
Chr7:130023300 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.543G>A (p.Arg181=) single nucleotide variant Hereditary pancreatitis [RCV002349597] Chr7:130383450 [GRCh38]
Chr7:130023291 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.958A>G (p.Thr320Ala) single nucleotide variant Hereditary pancreatitis [RCV002385242] Chr7:130385316 [GRCh38]
Chr7:130025157 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1238A>G (p.His413Arg) single nucleotide variant Hereditary pancreatitis [RCV002367457] Chr7:130387989 [GRCh38]
Chr7:130027830 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1009G>A (p.Val337Met) single nucleotide variant Hereditary pancreatitis [RCV002453182] Chr7:130385860 [GRCh38]
Chr7:130025701 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.975C>A (p.Asp325Glu) single nucleotide variant Hereditary pancreatitis [RCV002387111]|not provided [RCV003718578] Chr7:130385333 [GRCh38]
Chr7:130025174 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.555C>G (p.Thr185=) single nucleotide variant Hereditary pancreatitis [RCV002351968]|not provided [RCV003730104] Chr7:130383462 [GRCh38]
Chr7:130023303 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.389A>T (p.Asp130Val) single nucleotide variant Hereditary pancreatitis [RCV002366388] Chr7:130382115 [GRCh38]
Chr7:130021956 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1149C>T (p.Asp383=) single nucleotide variant Hereditary pancreatitis [RCV002452237] Chr7:130387900 [GRCh38]
Chr7:130027741 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1074T>C (p.Tyr358=) single nucleotide variant Hereditary pancreatitis [RCV002419552] Chr7:130387825 [GRCh38]
Chr7:130027666 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.715A>G (p.Thr239Ala) single nucleotide variant Hereditary pancreatitis [RCV002367569] Chr7:130384554 [GRCh38]
Chr7:130024395 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.745A>G (p.Ile249Val) single nucleotide variant Hereditary pancreatitis [RCV002385144] Chr7:130384584 [GRCh38]
Chr7:130024425 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.101C>G (p.Ala34Gly) single nucleotide variant Hereditary pancreatitis [RCV002366869] Chr7:130381133 [GRCh38]
Chr7:130020974 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.257A>G (p.Tyr86Cys) single nucleotide variant Hereditary pancreatitis [RCV002452823]|not provided [RCV003730222] Chr7:130381739 [GRCh38]
Chr7:130021580 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.814T>G (p.Ser272Ala) single nucleotide variant Hereditary pancreatitis [RCV002421398] Chr7:130385172 [GRCh38]
Chr7:130025013 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1125C>T (p.Tyr375=) single nucleotide variant Hereditary pancreatitis [RCV002435869]|not provided [RCV003775444] Chr7:130387876 [GRCh38]
Chr7:130027717 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1202A>G (p.Lys401Arg) single nucleotide variant Hereditary pancreatitis [RCV002349840] Chr7:130387953 [GRCh38]
Chr7:130027794 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.548G>T (p.Trp183Leu) single nucleotide variant Hereditary pancreatitis [RCV002349898] Chr7:130383455 [GRCh38]
Chr7:130023296 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn) single nucleotide variant Hereditary pancreatitis [RCV002385410]|not provided [RCV003718583] Chr7:130381162 [GRCh38]
Chr7:130021003 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.983A>C (p.Glu328Ala) single nucleotide variant Hereditary pancreatitis [RCV002387259] Chr7:130385341 [GRCh38]
Chr7:130025182 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.490A>T (p.Thr164Ser) single nucleotide variant Hereditary pancreatitis [RCV002351203] Chr7:130383397 [GRCh38]
Chr7:130023238 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.270C>G (p.Ile90Met) single nucleotide variant Hereditary pancreatitis [RCV002437437]|not provided [RCV003720637] Chr7:130381752 [GRCh38]
Chr7:130021593 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.631G>A (p.Asp211Asn) single nucleotide variant Hereditary pancreatitis [RCV002368862] Chr7:130383729 [GRCh38]
Chr7:130023570 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.357C>T (p.Tyr119=) single nucleotide variant Hereditary pancreatitis [RCV002455074]|not provided [RCV003102397] Chr7:130381839 [GRCh38]
Chr7:130021680 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.288G>C (p.Leu96=) single nucleotide variant Hereditary pancreatitis [RCV002437908] Chr7:130381770 [GRCh38]
Chr7:130021611 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1117A>T (p.Ile373Phe) single nucleotide variant Hereditary pancreatitis [RCV002435034] Chr7:130387868 [GRCh38]
Chr7:130027709 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.984G>C (p.Glu328Asp) single nucleotide variant Hereditary pancreatitis [RCV002387301] Chr7:130385342 [GRCh38]
Chr7:130025183 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1201A>C (p.Lys401Gln) single nucleotide variant Hereditary pancreatitis [RCV002349646] Chr7:130387952 [GRCh38]
Chr7:130027793 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.356A>C (p.Tyr119Ser) single nucleotide variant Hereditary pancreatitis [RCV002454976] Chr7:130381838 [GRCh38]
Chr7:130021679 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.627T>C (p.Ile209=) single nucleotide variant Hereditary pancreatitis [RCV002368690] Chr7:130383725 [GRCh38]
Chr7:130023566 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.493G>A (p.Gly165Arg) single nucleotide variant Hereditary pancreatitis [RCV002351307] Chr7:130383400 [GRCh38]
Chr7:130023241 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.547T>G (p.Trp183Gly) single nucleotide variant Hereditary pancreatitis [RCV002349853] Chr7:130383454 [GRCh38]
Chr7:130023295 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.121G>A (p.Glu41Lys) single nucleotide variant Hereditary pancreatitis [RCV002368800] Chr7:130381153 [GRCh38]
Chr7:130020994 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.374T>G (p.Leu125Arg) single nucleotide variant Hereditary pancreatitis [RCV002349298] Chr7:130381856 [GRCh38]
Chr7:130021697 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.740T>C (p.Leu247Pro) single nucleotide variant Hereditary pancreatitis [RCV002384926] Chr7:130384579 [GRCh38]
Chr7:130024420 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1243C>A (p.Leu415Met) single nucleotide variant Hereditary pancreatitis [RCV002384969] Chr7:130387994 [GRCh38]
Chr7:130027835 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.630C>G (p.Leu210=) single nucleotide variant Hereditary pancreatitis [RCV002368828] Chr7:130383728 [GRCh38]
Chr7:130023569 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.541C>T (p.Arg181Trp) single nucleotide variant Hereditary pancreatitis [RCV002349478]|not provided [RCV003730100] Chr7:130383448 [GRCh38]
Chr7:130023289 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.988-3C>T single nucleotide variant Hereditary pancreatitis [RCV002387397] Chr7:130385836 [GRCh38]
Chr7:130025677 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.382-4T>A single nucleotide variant Hereditary pancreatitis [RCV003301383] Chr7:130382104 [GRCh38]
Chr7:130021945 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.376G>A (p.Glu126Lys) single nucleotide variant Hereditary pancreatitis [RCV003301385] Chr7:130381858 [GRCh38]
Chr7:130021699 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1103C>T (p.Thr368Ile) single nucleotide variant Hereditary pancreatitis [RCV003301386] Chr7:130387854 [GRCh38]
Chr7:130027695 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.395T>A (p.Leu132Gln) single nucleotide variant Hereditary pancreatitis [RCV003301387] Chr7:130382121 [GRCh38]
Chr7:130021962 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.423C>T (p.His141=) single nucleotide variant Hereditary pancreatitis [RCV003301389] Chr7:130382149 [GRCh38]
Chr7:130021990 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.265A>G (p.Met89Val) single nucleotide variant Hereditary pancreatitis [RCV003301390] Chr7:130381747 [GRCh38]
Chr7:130021588 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.626T>G (p.Ile209Ser) single nucleotide variant Hereditary pancreatitis [RCV003301393] Chr7:130383724 [GRCh38]
Chr7:130023565 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.535C>T (p.His179Tyr) single nucleotide variant Hereditary pancreatitis [RCV002347016] Chr7:130383442 [GRCh38]
Chr7:130023283 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.567G>A (p.Gly189=) single nucleotide variant Hereditary pancreatitis [RCV002347415] Chr7:130383474 [GRCh38]
Chr7:130023315 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1170G>C (p.Leu390=) single nucleotide variant Hereditary pancreatitis [RCV002331878] Chr7:130387921 [GRCh38]
Chr7:130027762 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.492G>T (p.Thr164=) single nucleotide variant Hereditary pancreatitis [RCV002342624] Chr7:130383399 [GRCh38]
Chr7:130023240 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.489C>T (p.Ser163=) single nucleotide variant Hereditary pancreatitis [RCV002332395]|not provided [RCV003102649] Chr7:130383396 [GRCh38]
Chr7:130023237 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.794G>A (p.Gly265Glu) single nucleotide variant Hereditary pancreatitis [RCV002416858] Chr7:130385152 [GRCh38]
Chr7:130024993 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.19T>C (p.Leu7=) single nucleotide variant Hereditary pancreatitis [RCV002417100] Chr7:130380539 [GRCh38]
Chr7:130020380 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.-1C>G single nucleotide variant Hereditary pancreatitis [RCV002417121] Chr7:130380520 [GRCh38]
Chr7:130020361 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1251C>T (p.His417=) single nucleotide variant Hereditary pancreatitis [RCV002412110] Chr7:130388002 [GRCh38]
Chr7:130027843 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.2_8delinsGCA (p.Met1fs) indel Hereditary pancreatitis [RCV002417158] Chr7:130380522..130380528 [GRCh38]
Chr7:130020363..130020369 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1252C>T (p.Pro418Ser) single nucleotide variant Hereditary pancreatitis [RCV002412340] Chr7:130388003 [GRCh38]
Chr7:130027844 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.795A>G (p.Gly265=) single nucleotide variant Hereditary pancreatitis [RCV002412381] Chr7:130385153 [GRCh38]
Chr7:130024994 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1254C>A (p.Pro418=) single nucleotide variant Hereditary pancreatitis [RCV002412384] Chr7:130388005 [GRCh38]
Chr7:130027846 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.528G>A (p.Thr176=) single nucleotide variant Hereditary pancreatitis [RCV002344509]|not provided [RCV003096679] Chr7:130383435 [GRCh38]
Chr7:130023276 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.557A>C (p.Gln186Pro) single nucleotide variant Hereditary pancreatitis [RCV002344732] Chr7:130383464 [GRCh38]
Chr7:130023305 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1124A>G (p.Tyr375Cys) single nucleotide variant Hereditary pancreatitis [RCV002467392] Chr7:130387875 [GRCh38]
Chr7:130027716 [GRCh37]
Chr7:7q32.2		 uncertain significance
GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1 copy number loss not provided [RCV002473525] Chr7:129147455..132777678 [GRCh37]
Chr7:7q32.1-33		 uncertain significance
NM_001868.4(CPA1):c.183C>G (p.Ser61=) single nucleotide variant Hereditary pancreatitis [RCV002412796] Chr7:130381665 [GRCh38]
Chr7:130021506 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.564T>C (p.Ser188=) single nucleotide variant Hereditary pancreatitis [RCV002345195] Chr7:130383471 [GRCh38]
Chr7:130023312 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.193G>T (p.Val65Phe) single nucleotide variant Hereditary pancreatitis [RCV002413165] Chr7:130381675 [GRCh38]
Chr7:130021516 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1035G>C (p.Gly345=) single nucleotide variant Hereditary pancreatitis [RCV002392009] Chr7:130385886 [GRCh38]
Chr7:130025727 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.60T>C (p.Phe20=) single nucleotide variant Hereditary pancreatitis [RCV002360171] Chr7:130380580 [GRCh38]
Chr7:130020421 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.690C>T (p.His230=) single nucleotide variant Hereditary pancreatitis [RCV002378079] Chr7:130383788 [GRCh38]
Chr7:130023629 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.956A>G (p.Lys319Arg) single nucleotide variant Hereditary pancreatitis [RCV002374316] Chr7:130385314 [GRCh38]
Chr7:130025155 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.370A>C (p.Thr124Pro) single nucleotide variant Hereditary pancreatitis [RCV002353029] Chr7:130381852 [GRCh38]
Chr7:130021693 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.717T>A (p.Thr239=) single nucleotide variant Hereditary pancreatitis [RCV002370726] Chr7:130384556 [GRCh38]
Chr7:130024397 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1050T>C (p.Tyr350=) single nucleotide variant Hereditary pancreatitis [RCV002403591]|not provided [RCV003720589] Chr7:130385901 [GRCh38]
Chr7:130025742 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.277G>T (p.Val93Leu) single nucleotide variant Hereditary pancreatitis [RCV002439722] Chr7:130381759 [GRCh38]
Chr7:130021600 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.139C>T (p.His47Tyr) single nucleotide variant Hereditary pancreatitis [RCV002389204] Chr7:130381171 [GRCh38]
Chr7:130021012 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.598T>C (p.Tyr200His) single nucleotide variant Hereditary pancreatitis [RCV002357889] Chr7:130383696 [GRCh38]
Chr7:130023537 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.342C>T (p.Thr114=) single nucleotide variant Hereditary pancreatitis [RCV002457008] Chr7:130381824 [GRCh38]
Chr7:130021665 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.701G>A (p.Arg234His) single nucleotide variant Hereditary pancreatitis [RCV002364863]|not provided [RCV003718544] Chr7:130384540 [GRCh38]
Chr7:130024381 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1245G>C (p.Leu415=) single nucleotide variant Hereditary pancreatitis [RCV002393925] Chr7:130387996 [GRCh38]
Chr7:130027837 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.819G>C (p.Glu273Asp) single nucleotide variant Hereditary pancreatitis [RCV002427886] Chr7:130385177 [GRCh38]
Chr7:130025018 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.703A>G (p.Met235Val) single nucleotide variant Hereditary pancreatitis [RCV002364946] Chr7:130384542 [GRCh38]
Chr7:130024383 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.706T>C (p.Trp236Arg) single nucleotide variant Hereditary pancreatitis [RCV002365092] Chr7:130384545 [GRCh38]
Chr7:130024386 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1249C>T (p.His417Tyr) single nucleotide variant Hereditary pancreatitis [RCV002400563] Chr7:130388000 [GRCh38]
Chr7:130027841 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.347C>G (p.Thr116Ser) single nucleotide variant Hereditary pancreatitis [RCV002457357] Chr7:130381829 [GRCh38]
Chr7:130021670 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.228G>C (p.Lys76Asn) single nucleotide variant Hereditary pancreatitis [RCV002457468] Chr7:130381710 [GRCh38]
Chr7:130021551 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.380A>G (p.Glu127Gly) single nucleotide variant Hereditary pancreatitis [RCV002355220] Chr7:130381862 [GRCh38]
Chr7:130021703 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.144G>C (p.Leu48=) single nucleotide variant Hereditary pancreatitis [RCV002394566] Chr7:130381176 [GRCh38]
Chr7:130021017 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.318C>G (p.Ala106=) single nucleotide variant Hereditary pancreatitis [RCV002322833] Chr7:130381800 [GRCh38]
Chr7:130021641 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.746T>C (p.Ile249Thr) single nucleotide variant Hereditary pancreatitis [RCV002391462]|not provided [RCV003660944] Chr7:130384585 [GRCh38]
Chr7:130024426 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.96T>C (p.Asp32=) single nucleotide variant Hereditary pancreatitis [RCV002376666] Chr7:130381128 [GRCh38]
Chr7:130020969 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.348T>A (p.Thr116=) single nucleotide variant Hereditary pancreatitis [RCV002459013] Chr7:130381830 [GRCh38]
Chr7:130021671 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1109G>T (p.Ser370Ile) single nucleotide variant Hereditary pancreatitis [RCV002428825] Chr7:130387860 [GRCh38]
Chr7:130027701 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.738C>T (p.Ser246=) single nucleotide variant Hereditary pancreatitis [RCV002380436] Chr7:130384577 [GRCh38]
Chr7:130024418 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1208C>T (p.Thr403Met) single nucleotide variant Hereditary pancreatitis [RCV002347665]|not provided [RCV003096851] Chr7:130387959 [GRCh38]
Chr7:130027800 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1138G>C (p.Glu380Gln) single nucleotide variant Hereditary pancreatitis [RCV002326611] Chr7:130387889 [GRCh38]
Chr7:130027730 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.142del (p.Leu48fs) deletion Hereditary pancreatitis [RCV002392030] Chr7:130381173 [GRCh38]
Chr7:130021014 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.756C>A (p.Asp252Glu) single nucleotide variant Hereditary pancreatitis [RCV002394056] Chr7:130384595 [GRCh38]
Chr7:130024436 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.885C>T (p.Asp295=) single nucleotide variant Hereditary pancreatitis [RCV002375943] Chr7:130385243 [GRCh38]
Chr7:130025084 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.886C>T (p.His296Tyr) single nucleotide variant Hereditary pancreatitis [RCV002375966] Chr7:130385244 [GRCh38]
Chr7:130025085 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.649C>T (p.Leu217=) single nucleotide variant Hereditary pancreatitis [RCV002362021]|not provided [RCV003574931] Chr7:130383747 [GRCh38]
Chr7:130023588 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.862T>C (p.Ser288Pro) single nucleotide variant Hereditary pancreatitis [RCV002449611] Chr7:130385220 [GRCh38]
Chr7:130025061 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.463C>T (p.Arg155Cys) single nucleotide variant Hereditary pancreatitis [RCV002330430] Chr7:130382189 [GRCh38]
Chr7:130022030 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.464G>A (p.Arg155His) single nucleotide variant Hereditary pancreatitis [RCV002330447] Chr7:130382190 [GRCh38]
Chr7:130022031 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.465T>C (p.Arg155=) single nucleotide variant Hereditary pancreatitis [RCV002330486] Chr7:130382191 [GRCh38]
Chr7:130022032 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.277G>A (p.Val93Met) single nucleotide variant Hereditary pancreatitis [RCV002439716]|not provided [RCV003102208] Chr7:130381759 [GRCh38]
Chr7:130021600 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.141C>A (p.His47Gln) single nucleotide variant Hereditary pancreatitis [RCV002391775] Chr7:130381173 [GRCh38]
Chr7:130021014 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.343G>A (p.Asp115Asn) single nucleotide variant Hereditary pancreatitis [RCV002457108] Chr7:130381825 [GRCh38]
Chr7:130021666 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.759C>A (p.Pro253=) single nucleotide variant Hereditary pancreatitis [RCV002394188] Chr7:130384598 [GRCh38]
Chr7:130024439 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.290T>G (p.Leu97Arg) single nucleotide variant Hereditary pancreatitis [RCV002439825] Chr7:130381772 [GRCh38]
Chr7:130021613 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.597C>T (p.Asp199=) single nucleotide variant Hereditary pancreatitis [RCV002356122] Chr7:130383695 [GRCh38]
Chr7:130023536 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.307C>G (p.Gln103Glu) single nucleotide variant Hereditary pancreatitis [RCV002319862]|not provided [RCV003718477] Chr7:130381789 [GRCh38]
Chr7:130021630 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1152T>C (p.Thr384=) single nucleotide variant Hereditary pancreatitis [RCV002363788] Chr7:130387903 [GRCh38]
Chr7:130027744 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.443T>C (p.Ile148Thr) single nucleotide variant Hereditary pancreatitis [RCV002328270] Chr7:130382169 [GRCh38]
Chr7:130022010 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.706T>A (p.Trp236Arg) single nucleotide variant Hereditary pancreatitis [RCV002365090] Chr7:130384545 [GRCh38]
Chr7:130024386 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.637T>C (p.Leu213=) single nucleotide variant Hereditary pancreatitis [RCV002354068] Chr7:130383735 [GRCh38]
Chr7:130023576 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.222G>A (p.Ala74=) single nucleotide variant Hereditary pancreatitis [RCV002428227] Chr7:130381704 [GRCh38]
Chr7:130021545 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.687G>A (p.Thr229=) single nucleotide variant Hereditary pancreatitis [RCV002378016]|not provided [RCV003730126] Chr7:130383785 [GRCh38]
Chr7:130023626 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.687G>T (p.Thr229=) single nucleotide variant Hereditary pancreatitis [RCV002378019] Chr7:130383785 [GRCh38]
Chr7:130023626 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1100G>A (p.Trp367Ter) single nucleotide variant Hereditary pancreatitis [RCV002431146] Chr7:130387851 [GRCh38]
Chr7:130027692 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.124C>G (p.Leu42Val) single nucleotide variant Hereditary pancreatitis [RCV002400705] Chr7:130381156 [GRCh38]
Chr7:130020997 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1161T>C (p.Tyr387=) single nucleotide variant Hereditary pancreatitis [RCV002375712] Chr7:130387912 [GRCh38]
Chr7:130027753 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.94G>A (p.Asp32Asn) single nucleotide variant Hereditary pancreatitis [RCV002374133]|not provided [RCV003718573] Chr7:130381126 [GRCh38]
Chr7:130020967 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.316G>A (p.Ala106Thr) single nucleotide variant Hereditary pancreatitis [RCV002322616] Chr7:130381798 [GRCh38]
Chr7:130021639 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1182C>T (p.Ser394=) single nucleotide variant Hereditary pancreatitis [RCV002335274] Chr7:130387933 [GRCh38]
Chr7:130027774 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1232T>A (p.Met411Lys) single nucleotide variant Hereditary pancreatitis [RCV002362240] Chr7:130387983 [GRCh38]
Chr7:130027824 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.834G>T (p.Lys278Asn) single nucleotide variant Hereditary pancreatitis [RCV002434711] Chr7:130385192 [GRCh38]
Chr7:130025033 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.359C>T (p.Ala120Val) single nucleotide variant Hereditary pancreatitis [RCV002339858] Chr7:130381841 [GRCh38]
Chr7:130021682 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1035G>A (p.Gly345=) single nucleotide variant Hereditary pancreatitis [RCV002391933] Chr7:130385886 [GRCh38]
Chr7:130025727 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.882G>A (p.Lys294=) single nucleotide variant Hereditary pancreatitis [RCV002373768] Chr7:130385240 [GRCh38]
Chr7:130025081 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.850G>A (p.Val284Met) single nucleotide variant Hereditary pancreatitis [RCV002447741] Chr7:130385208 [GRCh38]
Chr7:130025049 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1223T>G (p.Leu408Arg) single nucleotide variant Hereditary pancreatitis [RCV002361953] Chr7:130387974 [GRCh38]
Chr7:130027815 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.37G>A (p.Ala13Thr) single nucleotide variant Hereditary pancreatitis [RCV002363957] Chr7:130380557 [GRCh38]
Chr7:130020398 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1079C>G (p.Ala360Gly) single nucleotide variant Hereditary pancreatitis [RCV002424014] Chr7:130387830 [GRCh38]
Chr7:130027671 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.144G>A (p.Leu48=) single nucleotide variant Hereditary pancreatitis [RCV002394558] Chr7:130381176 [GRCh38]
Chr7:130021017 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1058T>G (p.Ile353Ser) single nucleotide variant Hereditary pancreatitis [RCV002401457] Chr7:130385909 [GRCh38]
Chr7:130025750 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1008T>A (p.Ala336=) single nucleotide variant Hereditary pancreatitis [RCV002432969] Chr7:130385859 [GRCh38]
Chr7:130025700 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.885C>A (p.Asp295Glu) single nucleotide variant Hereditary pancreatitis [RCV002373844] Chr7:130385243 [GRCh38]
Chr7:130025084 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.939G>A (p.Met313Ile) single nucleotide variant Hereditary pancreatitis [RCV002373877]|not provided [RCV003094799] Chr7:130385297 [GRCh38]
Chr7:130025138 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.306del (p.Glu102fs) deletion Hereditary pancreatitis [RCV002444321]|not provided [RCV003546853] Chr7:130381788 [GRCh38]
Chr7:130021629 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.614C>T (p.Ala205Val) single nucleotide variant Hereditary pancreatitis [RCV002360420] Chr7:130383712 [GRCh38]
Chr7:130023553 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.852G>A (p.Val284=) single nucleotide variant Hereditary pancreatitis [RCV002447799] Chr7:130385210 [GRCh38]
Chr7:130025051 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.830G>T (p.Gly277Val) single nucleotide variant Hereditary pancreatitis [RCV002430387] Chr7:130385188 [GRCh38]
Chr7:130025029 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.895A>C (p.Ile299Leu) single nucleotide variant Hereditary pancreatitis [RCV002449894]|not provided [RCV003100066] Chr7:130385253 [GRCh38]
Chr7:130025094 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.839C>A (p.Ala280Asp) single nucleotide variant Hereditary pancreatitis [RCV002434873]|not provided [RCV003560988] Chr7:130385197 [GRCh38]
Chr7:130025038 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.75G>A (p.Val25=) single nucleotide variant Hereditary pancreatitis [RCV002394235] Chr7:130381107 [GRCh38]
Chr7:130020948 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.674G>C (p.Gly225Ala) single nucleotide variant Hereditary pancreatitis [RCV002377961] Chr7:130383772 [GRCh38]
Chr7:130023613 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1186A>T (p.Ile396Phe) single nucleotide variant Hereditary pancreatitis [RCV002338106] Chr7:130387937 [GRCh38]
Chr7:130027778 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.355T>C (p.Tyr119His) single nucleotide variant Hereditary pancreatitis [RCV002339781] Chr7:130381837 [GRCh38]
Chr7:130021678 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.779G>T (p.Gly260Val) single nucleotide variant Hereditary pancreatitis [RCV002409889] Chr7:130384618 [GRCh38]
Chr7:130024459 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.77T>G (p.Leu26Arg) single nucleotide variant Hereditary pancreatitis [RCV002409913] Chr7:130381109 [GRCh38]
Chr7:130020950 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.929A>G (p.Gln310Arg) single nucleotide variant Hereditary pancreatitis [RCV002371494] Chr7:130385287 [GRCh38]
Chr7:130025128 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.513C>T (p.Ala171=) single nucleotide variant Hereditary pancreatitis [RCV002338195]|not provided [RCV003776040] Chr7:130383420 [GRCh38]
Chr7:130023261 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.64G>A (p.Gly22Arg) single nucleotide variant Hereditary pancreatitis [RCV002364130] Chr7:130380584 [GRCh38]
Chr7:130020425 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.173A>T (p.His58Leu) single nucleotide variant Hereditary pancreatitis [RCV002407476] Chr7:130381655 [GRCh38]
Chr7:130021496 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.589A>C (p.Thr197Pro) single nucleotide variant Hereditary pancreatitis [RCV002353615] Chr7:130383687 [GRCh38]
Chr7:130023528 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.290T>C (p.Leu97Pro) single nucleotide variant Hereditary pancreatitis [RCV002439823] Chr7:130381772 [GRCh38]
Chr7:130021613 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1241C>T (p.Thr414Ile) single nucleotide variant Hereditary pancreatitis [RCV002380202] Chr7:130387992 [GRCh38]
Chr7:130027833 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.761A>G (p.Asn254Ser) single nucleotide variant Hereditary pancreatitis [RCV002396248] Chr7:130384600 [GRCh38]
Chr7:130024441 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1049A>G (p.Tyr350Cys) single nucleotide variant Hereditary pancreatitis [RCV002400874] Chr7:130385900 [GRCh38]
Chr7:130025741 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.947A>G (p.Tyr316Cys) single nucleotide variant Hereditary pancreatitis [RCV002443509] Chr7:130385305 [GRCh38]
Chr7:130025146 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.31T>C (p.Leu11=) single nucleotide variant Hereditary pancreatitis [RCV002322966]|not provided [RCV003099286] Chr7:130380551 [GRCh38]
Chr7:130020392 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.342C>G (p.Thr114=) single nucleotide variant Hereditary pancreatitis [RCV002337448]|not provided [RCV003718485] Chr7:130381824 [GRCh38]
Chr7:130021665 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.931C>T (p.Leu311Phe) single nucleotide variant Hereditary pancreatitis [RCV002371602] Chr7:130385289 [GRCh38]
Chr7:130025130 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.933C>T (p.Leu311=) single nucleotide variant Hereditary pancreatitis [RCV002371660] Chr7:130385291 [GRCh38]
Chr7:130025132 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1006G>T (p.Ala336Ser) single nucleotide variant Hereditary pancreatitis [RCV002423946] Chr7:130385857 [GRCh38]
Chr7:130025698 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.900G>A (p.Lys300=) single nucleotide variant Hereditary pancreatitis [RCV002376385] Chr7:130385258 [GRCh38]
Chr7:130025099 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.763A>G (p.Arg255Gly) single nucleotide variant Hereditary pancreatitis [RCV002396339] Chr7:130384602 [GRCh38]
Chr7:130024443 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.700C>G (p.Arg234Gly) single nucleotide variant Hereditary pancreatitis [RCV002378252] Chr7:130384539 [GRCh38]
Chr7:130024380 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.309G>A (p.Gln103=) single nucleotide variant Hereditary pancreatitis [RCV002325908] Chr7:130381791 [GRCh38]
Chr7:130021632 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.309G>C (p.Gln103His) single nucleotide variant Hereditary pancreatitis [RCV002325915] Chr7:130381791 [GRCh38]
Chr7:130021632 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.197G>C (p.Arg66Pro) single nucleotide variant Hereditary pancreatitis [RCV002423656] Chr7:130381679 [GRCh38]
Chr7:130021520 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.158G>C (p.Trp53Ser) single nucleotide variant Hereditary pancreatitis [RCV002398406] Chr7:130381640 [GRCh38]
Chr7:130021481 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.419C>G (p.Pro140Arg) single nucleotide variant Hereditary pancreatitis [RCV002327825] Chr7:130382145 [GRCh38]
Chr7:130021986 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.658G>C (p.Val220Leu) single nucleotide variant Hereditary pancreatitis [RCV002364532] Chr7:130383756 [GRCh38]
Chr7:130023597 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.697A>C (p.Asn233His) single nucleotide variant Hereditary pancreatitis [RCV002362541] Chr7:130384536 [GRCh38]
Chr7:130024377 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.161G>A (p.Arg54Gln) single nucleotide variant Hereditary pancreatitis [RCV002401046] Chr7:130381643 [GRCh38]
Chr7:130021484 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1134C>T (p.Thr378=) single nucleotide variant Hereditary pancreatitis [RCV002445597] Chr7:130387885 [GRCh38]
Chr7:130027726 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1117A>C (p.Ile373Leu) single nucleotide variant not provided [RCV002300074] Chr7:130387868 [GRCh38]
Chr7:130027709 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.739C>G (p.Leu247Val) single nucleotide variant Hereditary pancreatitis [RCV002380492] Chr7:130384578 [GRCh38]
Chr7:130024419 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.739C>T (p.Leu247Phe) single nucleotide variant Hereditary pancreatitis [RCV002380494] Chr7:130384578 [GRCh38]
Chr7:130024419 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.660C>T (p.Val220=) single nucleotide variant Hereditary pancreatitis [RCV002364582] Chr7:130383758 [GRCh38]
Chr7:130023599 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.136G>A (p.Glu46Lys) single nucleotide variant Hereditary pancreatitis [RCV002383673] Chr7:130381168 [GRCh38]
Chr7:130021009 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.179G>A (p.Gly60Asp) single nucleotide variant Hereditary pancreatitis [RCV002407852] Chr7:130381661 [GRCh38]
Chr7:130021502 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.405G>A (p.Leu135=) single nucleotide variant Hereditary pancreatitis [RCV002321378] Chr7:130382131 [GRCh38]
Chr7:130021972 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.981T>G (p.Asp327Glu) single nucleotide variant Hereditary pancreatitis [RCV002376847] Chr7:130385339 [GRCh38]
Chr7:130025180 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.213C>T (p.Ser71=) single nucleotide variant Hereditary pancreatitis [RCV002430510] Chr7:130381695 [GRCh38]
Chr7:130021536 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.655A>T (p.Ile219Phe) single nucleotide variant Hereditary pancreatitis [RCV002364394]|not provided [RCV003730120] Chr7:130383753 [GRCh38]
Chr7:130023594 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.-5G>C single nucleotide variant Hereditary pancreatitis [RCV002358000] Chr7:130380516 [GRCh38]
Chr7:130020357 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1135T>C (p.Phe379Leu) single nucleotide variant Hereditary pancreatitis [RCV002445709] Chr7:130387886 [GRCh38]
Chr7:130027727 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.503A>C (p.Lys168Thr) single nucleotide variant Hereditary pancreatitis [RCV002335650] Chr7:130383410 [GRCh38]
Chr7:130023251 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.601G>A (p.Gly201Arg) single nucleotide variant Hereditary pancreatitis [RCV002358104] Chr7:130383699 [GRCh38]
Chr7:130023540 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1126T>C (p.Ser376Pro) single nucleotide variant Hereditary pancreatitis [RCV002444098] Chr7:130387877 [GRCh38]
Chr7:130027718 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.165G>T (p.Gly55=) single nucleotide variant Hereditary pancreatitis [RCV002395089] Chr7:130381647 [GRCh38]
Chr7:130021488 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.915C>T (p.Ile305=) single nucleotide variant Hereditary pancreatitis [RCV002378823] Chr7:130385273 [GRCh38]
Chr7:130025114 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1089C>G (p.Ser363Arg) single nucleotide variant Hereditary pancreatitis [RCV002443528] Chr7:130387840 [GRCh38]
Chr7:130027681 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1242C>T (p.Thr414=) single nucleotide variant Hereditary pancreatitis [RCV002380385] Chr7:130387993 [GRCh38]
Chr7:130027834 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1025C>T (p.Ser342Phe) single nucleotide variant Hereditary pancreatitis [RCV002380742] Chr7:130385876 [GRCh38]
Chr7:130025717 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1197A>G (p.Thr399=) single nucleotide variant Hereditary pancreatitis [RCV002340835] Chr7:130387948 [GRCh38]
Chr7:130027789 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.42C>A (p.Val14=) single nucleotide variant Hereditary pancreatitis [RCV002330292] Chr7:130380562 [GRCh38]
Chr7:130020403 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.115G>A (p.Val39Met) single nucleotide variant Hereditary pancreatitis [RCV002373278] Chr7:130381147 [GRCh38]
Chr7:130020988 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1109G>A (p.Ser370Asn) single nucleotide variant Hereditary pancreatitis [RCV002428801] Chr7:130387860 [GRCh38]
Chr7:130027701 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.577G>T (p.Ala193Ser) single nucleotide variant Hereditary pancreatitis [RCV002359712]|not provided [RCV003546787] Chr7:130383484 [GRCh38]
Chr7:130023325 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.65G>C (p.Gly22Ala) single nucleotide variant Hereditary pancreatitis [RCV002364564] Chr7:130380585 [GRCh38]
Chr7:130020426 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.661A>G (p.Thr221Ala) single nucleotide variant Hereditary pancreatitis [RCV002364604]|not provided [RCV003098307] Chr7:130383759 [GRCh38]
Chr7:130023600 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.611C>A (p.Ala204Glu) single nucleotide variant Hereditary pancreatitis [RCV002360262] Chr7:130383709 [GRCh38]
Chr7:130023550 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.918C>T (p.His306=) single nucleotide variant Hereditary pancreatitis [RCV002378913]|not provided [RCV003738230] Chr7:130385276 [GRCh38]
Chr7:130025117 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.586-1G>T single nucleotide variant Hereditary pancreatitis [RCV002353416] Chr7:130383683 [GRCh38]
Chr7:130023524 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.592C>G (p.Gln198Glu) single nucleotide variant Hereditary pancreatitis [RCV002355847] Chr7:130383690 [GRCh38]
Chr7:130023531 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.456T>C (p.Tyr152=) single nucleotide variant Hereditary pancreatitis [RCV002342127] Chr7:130382182 [GRCh38]
Chr7:130022023 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.601G>C (p.Gly201Arg) single nucleotide variant Hereditary pancreatitis [RCV002358108]|not provided [RCV003730109] Chr7:130383699 [GRCh38]
Chr7:130023540 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.817G>A (p.Glu273Lys) single nucleotide variant Hereditary pancreatitis [RCV002427805] Chr7:130385175 [GRCh38]
Chr7:130025016 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.644T>C (p.Ile215Thr) single nucleotide variant Hereditary pancreatitis [RCV002361844] Chr7:130383742 [GRCh38]
Chr7:130023583 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.495G>A (p.Gly165=) single nucleotide variant Hereditary pancreatitis [RCV002342787] Chr7:130383402 [GRCh38]
Chr7:130023243 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.123G>A (p.Glu41=) single nucleotide variant Hereditary pancreatitis [RCV002371126] Chr7:130381155 [GRCh38]
Chr7:130020996 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.304G>A (p.Glu102Lys) single nucleotide variant Hereditary pancreatitis [RCV002444095] Chr7:130381786 [GRCh38]
Chr7:130021627 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.505C>T (p.Arg169Cys) single nucleotide variant Hereditary pancreatitis [RCV002335780] Chr7:130383412 [GRCh38]
Chr7:130023253 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.325T>C (p.Ser109Pro) single nucleotide variant Hereditary pancreatitis [RCV002324960] Chr7:130381807 [GRCh38]
Chr7:130021648 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.246C>A (p.His82Gln) single nucleotide variant Hereditary pancreatitis [RCV002430772] Chr7:130381728 [GRCh38]
Chr7:130021569 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.846C>T (p.Ser282=) single nucleotide variant Hereditary pancreatitis [RCV002447581] Chr7:130385204 [GRCh38]
Chr7:130025045 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.724C>A (p.His242Asn) single nucleotide variant Hereditary pancreatitis [RCV002371093] Chr7:130384563 [GRCh38]
Chr7:130024404 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1054A>C (p.Ser352Arg) single nucleotide variant Hereditary pancreatitis [RCV002406103] Chr7:130385905 [GRCh38]
Chr7:130025746 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.444T>G (p.Ile148Met) single nucleotide variant Hereditary pancreatitis [RCV002328348] Chr7:130382170 [GRCh38]
Chr7:130022011 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1141C>G (p.Leu381Val) single nucleotide variant Hereditary pancreatitis [RCV002457088] Chr7:130387892 [GRCh38]
Chr7:130027733 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.658G>A (p.Val220Ile) single nucleotide variant Hereditary pancreatitis [RCV002375801]|not provided [RCV003718540] Chr7:130383756 [GRCh38]
Chr7:130023597 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.918C>G (p.His306Gln) single nucleotide variant Hereditary pancreatitis [RCV002378909] Chr7:130385276 [GRCh38]
Chr7:130025117 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.247G>C (p.Gly83Arg) single nucleotide variant Hereditary pancreatitis [RCV002443946]|not provided [RCV003101868] Chr7:130381729 [GRCh38]
Chr7:130021570 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.146A>G (p.Gln49Arg) single nucleotide variant Hereditary pancreatitis [RCV002396893] Chr7:130381178 [GRCh38]
Chr7:130021019 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.246C>T (p.His82=) single nucleotide variant Hereditary pancreatitis [RCV002430775] Chr7:130381728 [GRCh38]
Chr7:130021569 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.42C>T (p.Val14=) single nucleotide variant Hereditary pancreatitis [RCV002331862] Chr7:130380562 [GRCh38]
Chr7:130020403 [GRCh37]
Chr7:7q32.2		 likely benign
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
NM_001868.4(CPA1):c.165G>C (p.Gly55=) single nucleotide variant Hereditary pancreatitis [RCV002318975]|not provided [RCV001511899]|not specified [RCV000242274] Chr7:130381647 [GRCh38]
Chr7:130021488 [GRCh37]
Chr7:7q32.2		 benign
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_001868.4(CPA1):c.741C>A (p.Leu247=) single nucleotide variant Hereditary pancreatitis [RCV003301392] Chr7:130384580 [GRCh38]
Chr7:130024421 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.933C>A (p.Leu311=) single nucleotide variant Hereditary pancreatitis [RCV003301394] Chr7:130385291 [GRCh38]
Chr7:130025132 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile) single nucleotide variant CPA1-related condition [RCV003928665]|Hereditary pancreatitis [RCV002258086]|not provided [RCV001516447] Chr7:130381853 [GRCh38]
Chr7:130021694 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.322C>G (p.Arg108Gly) single nucleotide variant not provided [RCV001052781] Chr7:130381804 [GRCh38]
Chr7:130021645 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.697-63dup duplication not provided [RCV001656817] Chr7:130384467..130384468 [GRCh38]
Chr7:130024308..130024309 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.1029C>T (p.Leu343=) single nucleotide variant Hereditary pancreatitis [RCV002319599]|not provided [RCV000898336] Chr7:130385880 [GRCh38]
Chr7:130025721 [GRCh37]
Chr7:7q32.2		 benign|likely benign
NM_001868.4(CPA1):c.137A>T (p.Glu46Val) single nucleotide variant Hereditary pancreatitis [RCV002379929]|not provided [RCV001242172] Chr7:130381169 [GRCh38]
Chr7:130021010 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.483+4A>G single nucleotide variant not provided [RCV001316372] Chr7:130382213 [GRCh38]
Chr7:130022054 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.606G>A (p.Gln202=) single nucleotide variant not provided [RCV001445118] Chr7:130383704 [GRCh38]
Chr7:130023545 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.276C>T (p.Asp92=) single nucleotide variant Hereditary pancreatitis [RCV002439103]|not provided [RCV001465530] Chr7:130381758 [GRCh38]
Chr7:130021599 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.147+4A>C single nucleotide variant Hereditary pancreatitis [RCV002388772]|not provided [RCV001884307] Chr7:130381183 [GRCh38]
Chr7:130021024 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.484-20C>G single nucleotide variant not provided [RCV001919137] Chr7:130383371 [GRCh38]
Chr7:130023212 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1009G>C (p.Val337Leu) single nucleotide variant not provided [RCV001959369] Chr7:130385860 [GRCh38]
Chr7:130025701 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.71A>T (p.Gln24Leu) single nucleotide variant not provided [RCV001924612] Chr7:130381103 [GRCh38]
Chr7:130020944 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-15C>G single nucleotide variant not provided [RCV002125584] Chr7:130383669 [GRCh38]
Chr7:130023510 [GRCh37]
Chr7:7q32.2		 benign
NM_001868.4(CPA1):c.546G>A (p.Glu182=) single nucleotide variant Hereditary pancreatitis [RCV002346479]|not provided [RCV002108444] Chr7:130383453 [GRCh38]
Chr7:130023294 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.222G>T (p.Ala74=) single nucleotide variant Hereditary pancreatitis [RCV002416464]|not provided [RCV002089197] Chr7:130381704 [GRCh38]
Chr7:130021545 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.9G>A (p.Gly3=) single nucleotide variant Hereditary pancreatitis [RCV002383145] Chr7:130380529 [GRCh38]
Chr7:130020370 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.789G>A (p.Leu263=) single nucleotide variant Hereditary pancreatitis [RCV002416620] Chr7:130385147 [GRCh38]
Chr7:130024988 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.716C>G (p.Thr239Ser) single nucleotide variant Hereditary pancreatitis [RCV002378384] Chr7:130384555 [GRCh38]
Chr7:130024396 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.473A>G (p.Tyr158Cys) single nucleotide variant Hereditary pancreatitis [RCV002335506] Chr7:130382199 [GRCh38]
Chr7:130022040 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.728C>T (p.Thr243Ile) single nucleotide variant Hereditary pancreatitis [RCV002382670] Chr7:130384567 [GRCh38]
Chr7:130024408 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.459A>G (p.Glu153=) single nucleotide variant Hereditary pancreatitis [RCV002342318] Chr7:130382185 [GRCh38]
Chr7:130022026 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.92C>T (p.Ala31Val) single nucleotide variant Hereditary pancreatitis [RCV002371525] Chr7:130381124 [GRCh38]
Chr7:130020965 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.930G>A (p.Gln310=) single nucleotide variant Hereditary pancreatitis [RCV002371569] Chr7:130385288 [GRCh38]
Chr7:130025129 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1224G>A (p.Leu408=) single nucleotide variant Hereditary pancreatitis [RCV002362027] Chr7:130387975 [GRCh38]
Chr7:130027816 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.221C>G (p.Ala74Gly) single nucleotide variant Hereditary pancreatitis [RCV002428057] Chr7:130381703 [GRCh38]
Chr7:130021544 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.249C>T (p.Gly83=) single nucleotide variant Hereditary pancreatitis [RCV002431041] Chr7:130381731 [GRCh38]
Chr7:130021572 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.293A>T (p.Asp98Val) single nucleotide variant Hereditary pancreatitis [RCV002440145] Chr7:130381775 [GRCh38]
Chr7:130021616 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.819G>T (p.Glu273Asp) single nucleotide variant Hereditary pancreatitis [RCV002427892] Chr7:130385177 [GRCh38]
Chr7:130025018 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.754G>C (p.Asp252His) single nucleotide variant Hereditary pancreatitis [RCV002393982] Chr7:130384593 [GRCh38]
Chr7:130024434 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg) single nucleotide variant Hereditary pancreatitis [RCV002325766] Chr7:130381790 [GRCh38]
Chr7:130021631 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.891G>A (p.Gly297=) single nucleotide variant Hereditary pancreatitis [RCV002376120] Chr7:130385249 [GRCh38]
Chr7:130025090 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1131C>T (p.Phe377=) single nucleotide variant Hereditary pancreatitis [RCV002322658] Chr7:130387882 [GRCh38]
Chr7:130027723 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.936C>A (p.Leu312=) single nucleotide variant Hereditary pancreatitis [RCV002371716] Chr7:130385294 [GRCh38]
Chr7:130025135 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.821C>T (p.Thr274Ile) single nucleotide variant Hereditary pancreatitis [RCV002427982] Chr7:130385179 [GRCh38]
Chr7:130025020 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.182C>T (p.Ser61Phe) single nucleotide variant Hereditary pancreatitis [RCV002410511] Chr7:130381664 [GRCh38]
Chr7:130021505 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.786G>A (p.Gly262=) single nucleotide variant Hereditary pancreatitis [RCV002412270] Chr7:130384625 [GRCh38]
Chr7:130024466 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.317C>T (p.Ala106Val) single nucleotide variant Hereditary pancreatitis [RCV002322717] Chr7:130381799 [GRCh38]
Chr7:130021640 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.900G>T (p.Lys300Asn) single nucleotide variant Hereditary pancreatitis [RCV002376394] Chr7:130385258 [GRCh38]
Chr7:130025099 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.30G>C (p.Leu10=) single nucleotide variant Hereditary pancreatitis [RCV002325964] Chr7:130380550 [GRCh38]
Chr7:130020391 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.9G>T (p.Gly3=) single nucleotide variant Hereditary pancreatitis [RCV002383158]|not provided [RCV003718581] Chr7:130380529 [GRCh38]
Chr7:130020370 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.419C>A (p.Pro140Gln) single nucleotide variant Hereditary pancreatitis [RCV002327823] Chr7:130382145 [GRCh38]
Chr7:130021986 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.488G>A (p.Ser163Asn) single nucleotide variant Hereditary pancreatitis [RCV002340539] Chr7:130383395 [GRCh38]
Chr7:130023236 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.526A>C (p.Thr176Pro) single nucleotide variant Hereditary pancreatitis [RCV002344369] Chr7:130383433 [GRCh38]
Chr7:130023274 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.969C>G (p.Val323=) single nucleotide variant Hereditary pancreatitis [RCV002376605] Chr7:130385327 [GRCh38]
Chr7:130025168 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.453C>T (p.Thr151=) single nucleotide variant Hereditary pancreatitis [RCV002340089] Chr7:130382179 [GRCh38]
Chr7:130022020 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.336C>T (p.Arg112=) single nucleotide variant Hereditary pancreatitis [RCV002451716] Chr7:130381818 [GRCh38]
Chr7:130021659 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.787+2T>A single nucleotide variant Hereditary pancreatitis [RCV002412283] Chr7:130384628 [GRCh38]
Chr7:130024469 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1252C>G (p.Pro418Ala) single nucleotide variant Hereditary pancreatitis [RCV002412327] Chr7:130388003 [GRCh38]
Chr7:130027844 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.30G>A (p.Leu10=) single nucleotide variant Hereditary pancreatitis [RCV002325956] Chr7:130380550 [GRCh38]
Chr7:130020391 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.186C>T (p.Pro62=) single nucleotide variant Hereditary pancreatitis [RCV002415064] Chr7:130381668 [GRCh38]
Chr7:130021509 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.824A>G (p.Tyr275Cys) single nucleotide variant Hereditary pancreatitis [RCV002412549] Chr7:130385182 [GRCh38]
Chr7:130025023 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.294C>G (p.Asp98Glu) single nucleotide variant Hereditary pancreatitis [RCV002441829] Chr7:130381776 [GRCh38]
Chr7:130021617 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.263C>T (p.Thr88Ile) single nucleotide variant Hereditary pancreatitis [RCV002428627] Chr7:130381745 [GRCh38]
Chr7:130021586 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.731C>T (p.Ala244Val) single nucleotide variant Hereditary pancreatitis [RCV002380095] Chr7:130384570 [GRCh38]
Chr7:130024411 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.328C>G (p.Arg110Gly) single nucleotide variant Hereditary pancreatitis [RCV002326144] Chr7:130381810 [GRCh38]
Chr7:130021651 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1234G>A (p.Glu412Lys) single nucleotide variant Hereditary pancreatitis [RCV002364654] Chr7:130387985 [GRCh38]
Chr7:130027826 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.421C>A (p.His141Asn) single nucleotide variant Hereditary pancreatitis [RCV002328021] Chr7:130382147 [GRCh38]
Chr7:130021988 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.492G>C (p.Thr164=) single nucleotide variant Hereditary pancreatitis [RCV002340760] Chr7:130383399 [GRCh38]
Chr7:130023240 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.428T>A (p.Val143Asp) single nucleotide variant Hereditary pancreatitis [RCV002330196]|not provided [RCV003102560] Chr7:130382154 [GRCh38]
Chr7:130021995 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.429C>T (p.Val143=) single nucleotide variant Hereditary pancreatitis [RCV002330272] Chr7:130382155 [GRCh38]
Chr7:130021996 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1170G>A (p.Leu390=) single nucleotide variant Hereditary pancreatitis [RCV002330274] Chr7:130387921 [GRCh38]
Chr7:130027762 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.462G>T (p.Gly154=) single nucleotide variant Hereditary pancreatitis [RCV002342562] Chr7:130382188 [GRCh38]
Chr7:130022029 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.823T>C (p.Tyr275His) single nucleotide variant Hereditary pancreatitis [RCV002412540] Chr7:130385181 [GRCh38]
Chr7:130025022 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.570C>G (p.Val190=) single nucleotide variant Hereditary pancreatitis [RCV002347604] Chr7:130383477 [GRCh38]
Chr7:130023318 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1003G>C (p.Ala335Pro) single nucleotide variant Hereditary pancreatitis [RCV002398537] Chr7:130385854 [GRCh38]
Chr7:130025695 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.531C>T (p.Gly177=) single nucleotide variant Hereditary pancreatitis [RCV002344696]|not provided [RCV003730098] Chr7:130383438 [GRCh38]
Chr7:130023279 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.591T>C (p.Thr197=) single nucleotide variant Hereditary pancreatitis [RCV002355810] Chr7:130383689 [GRCh38]
Chr7:130023530 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1211G>T (p.Trp404Leu) single nucleotide variant Hereditary pancreatitis [RCV002355833] Chr7:130387962 [GRCh38]
Chr7:130027803 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.235C>T (p.Leu79=) single nucleotide variant Hereditary pancreatitis [RCV002448515] Chr7:130381717 [GRCh38]
Chr7:130021558 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.434A>G (p.Lys145Arg) single nucleotide variant Hereditary pancreatitis [RCV002332244] Chr7:130382160 [GRCh38]
Chr7:130022001 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.531C>A (p.Gly177=) single nucleotide variant Hereditary pancreatitis [RCV002344693]|not provided [RCV003718518] Chr7:130383438 [GRCh38]
Chr7:130023279 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.327C>T (p.Ser109=) single nucleotide variant Hereditary pancreatitis [RCV002445740] Chr7:130381809 [GRCh38]
Chr7:130021650 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.408G>A (p.Val136=) single nucleotide variant Hereditary pancreatitis [RCV002323205] Chr7:130382134 [GRCh38]
Chr7:130021975 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.15G>A (p.Leu5=) single nucleotide variant Hereditary pancreatitis [RCV002398665] Chr7:130380535 [GRCh38]
Chr7:130020376 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.332C>T (p.Ala111Val) single nucleotide variant Hereditary pancreatitis [RCV002326463] Chr7:130381814 [GRCh38]
Chr7:130021655 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.494G>C (p.Gly165Ala) single nucleotide variant Hereditary pancreatitis [RCV002342724] Chr7:130383401 [GRCh38]
Chr7:130023242 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.435G>A (p.Lys145=) single nucleotide variant Hereditary pancreatitis [RCV002332332] Chr7:130382161 [GRCh38]
Chr7:130022002 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.648C>T (p.Phe216=) single nucleotide variant Hereditary pancreatitis [RCV002356237] Chr7:130383746 [GRCh38]
Chr7:130023587 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.480G>A (p.Leu160=) single nucleotide variant Hereditary pancreatitis [RCV002337942] Chr7:130382206 [GRCh38]
Chr7:130022047 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.350T>C (p.Phe117Ser) single nucleotide variant Hereditary pancreatitis [RCV002459206] Chr7:130381832 [GRCh38]
Chr7:130021673 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.297G>C (p.Glu99Asp) single nucleotide variant Hereditary pancreatitis [RCV002442202] Chr7:130381779 [GRCh38]
Chr7:130021620 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1164C>A (p.Gly388=) single nucleotide variant Hereditary pancreatitis [RCV002323183] Chr7:130387915 [GRCh38]
Chr7:130027756 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.57C>T (p.Asp19=) single nucleotide variant Hereditary pancreatitis [RCV002359852] Chr7:130380577 [GRCh38]
Chr7:130020418 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.864C>T (p.Ser288=) single nucleotide variant Hereditary pancreatitis [RCV002449633] Chr7:130385222 [GRCh38]
Chr7:130025063 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.870A>G (p.Val290=) single nucleotide variant Hereditary pancreatitis [RCV002449723] Chr7:130385228 [GRCh38]
Chr7:130025069 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.468C>T (p.Pro156=) single nucleotide variant Hereditary pancreatitis [RCV002330555] Chr7:130382194 [GRCh38]
Chr7:130022035 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.211A>T (p.Ser71Cys) single nucleotide variant not provided [RCV002303299] Chr7:130381693 [GRCh38]
Chr7:130021534 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.840C>G (p.Ala280=) single nucleotide variant Hereditary pancreatitis [RCV002445855] Chr7:130385198 [GRCh38]
Chr7:130025039 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.411G>A (p.Ala137=) single nucleotide variant Hereditary pancreatitis [RCV002323484]|not provided [RCV003560958] Chr7:130382137 [GRCh38]
Chr7:130021978 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1025C>G (p.Ser342Cys) single nucleotide variant Hereditary pancreatitis [RCV002380728] Chr7:130385876 [GRCh38]
Chr7:130025717 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.446G>A (p.Gly149Asp) single nucleotide variant Hereditary pancreatitis [RCV002328472]|not provided [RCV003094716] Chr7:130382172 [GRCh38]
Chr7:130022013 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1041G>A (p.Lys347=) single nucleotide variant Hereditary pancreatitis [RCV002392276] Chr7:130385892 [GRCh38]
Chr7:130025733 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1001A>G (p.Lys334Arg) single nucleotide variant Hereditary pancreatitis [RCV002449737] Chr7:130385852 [GRCh38]
Chr7:130025693 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1077A>G (p.Gln359=) single nucleotide variant Hereditary pancreatitis [RCV002421834] Chr7:130387828 [GRCh38]
Chr7:130027669 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.238G>A (p.Glu80Lys) single nucleotide variant Hereditary pancreatitis [RCV002459561] Chr7:130381720 [GRCh38]
Chr7:130021561 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1042T>G (p.Phe348Val) single nucleotide variant Hereditary pancreatitis [RCV002402971] Chr7:130385893 [GRCh38]
Chr7:130025734 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.76C>G (p.Leu26Val) single nucleotide variant Hereditary pancreatitis [RCV002400578] Chr7:130381108 [GRCh38]
Chr7:130020949 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.499A>G (p.Ser167Gly) single nucleotide variant Hereditary pancreatitis [RCV002342983] Chr7:130383406 [GRCh38]
Chr7:130023247 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1047C>T (p.Asn349=) single nucleotide variant Hereditary pancreatitis [RCV002392658] Chr7:130385898 [GRCh38]
Chr7:130025739 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.681C>T (p.Ala227=) single nucleotide variant Hereditary pancreatitis [RCV002369579] Chr7:130383779 [GRCh38]
Chr7:130023620 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.954_955del (p.Tyr318_Lys319delinsTer) deletion Hereditary pancreatitis [RCV002374272] Chr7:130385311..130385312 [GRCh38]
Chr7:130025152..130025153 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.480G>T (p.Leu160=) single nucleotide variant Hereditary pancreatitis [RCV002330739] Chr7:130382206 [GRCh38]
Chr7:130022047 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1185G>T (p.Gln395His) single nucleotide variant Hereditary pancreatitis [RCV002330752]|not provided [RCV003660934] Chr7:130387936 [GRCh38]
Chr7:130027777 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.500G>A (p.Ser167Asn) single nucleotide variant Hereditary pancreatitis [RCV002343096]|not provided [RCV003096563] Chr7:130383407 [GRCh38]
Chr7:130023248 [GRCh37]
Chr7:7q32.2		 likely benign|uncertain significance
NM_001868.4(CPA1):c.1008T>G (p.Ala336=) single nucleotide variant Hereditary pancreatitis [RCV002455788] Chr7:130385859 [GRCh38]
Chr7:130025700 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.261G>A (p.Glu87=) single nucleotide variant Hereditary pancreatitis [RCV002426390] Chr7:130381743 [GRCh38]
Chr7:130021584 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.774C>A (p.Asp258Glu) single nucleotide variant Hereditary pancreatitis [RCV002409654] Chr7:130384613 [GRCh38]
Chr7:130024454 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.324G>C (p.Arg108=) single nucleotide variant Hereditary pancreatitis [RCV002324879] Chr7:130381806 [GRCh38]
Chr7:130021647 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.657C>A (p.Ile219=) single nucleotide variant Hereditary pancreatitis [RCV002364487] Chr7:130383755 [GRCh38]
Chr7:130023596 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.718C>G (p.Arg240Gly) single nucleotide variant Hereditary pancreatitis [RCV002370774] Chr7:130384557 [GRCh38]
Chr7:130024398 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.906C>T (p.Phe302=) single nucleotide variant Hereditary pancreatitis [RCV002378543] Chr7:130385264 [GRCh38]
Chr7:130025105 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1003G>A (p.Ala335Thr) single nucleotide variant Hereditary pancreatitis [RCV002392651]|not provided [RCV003096968] Chr7:130385854 [GRCh38]
Chr7:130025695 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.364T>A (p.Tyr122Asn) single nucleotide variant Hereditary pancreatitis [RCV002346647] Chr7:130381846 [GRCh38]
Chr7:130021687 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.852G>T (p.Val284=) single nucleotide variant Hereditary pancreatitis [RCV002414435] Chr7:130385210 [GRCh38]
Chr7:130025051 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.750C>T (p.Gly250=) single nucleotide variant Hereditary pancreatitis [RCV002393750]|not provided [RCV003718552] Chr7:130384589 [GRCh38]
Chr7:130024430 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1234G>C (p.Glu412Gln) single nucleotide variant Hereditary pancreatitis [RCV002364689] Chr7:130387985 [GRCh38]
Chr7:130027826 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.182C>A (p.Ser61Tyr) single nucleotide variant Hereditary pancreatitis [RCV002410506] Chr7:130381664 [GRCh38]
Chr7:130021505 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.615T>G (p.Ala205=) single nucleotide variant Hereditary pancreatitis [RCV002353662] Chr7:130383713 [GRCh38]
Chr7:130023554 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.243C>T (p.Ser81=) single nucleotide variant Hereditary pancreatitis [RCV002460002] Chr7:130381725 [GRCh38]
Chr7:130021566 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.999C>T (p.Ser333=) single nucleotide variant Hereditary pancreatitis [RCV002383069] Chr7:130385850 [GRCh38]
Chr7:130025691 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.209C>T (p.Pro70Leu) single nucleotide variant Hereditary pancreatitis [RCV003167724]|not provided [RCV002756479] Chr7:130381691 [GRCh38]
Chr7:130021532 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.926C>T (p.Ser309Phe) single nucleotide variant not provided [RCV002858636] Chr7:130385284 [GRCh38]
Chr7:130025125 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.196C>T (p.Arg66Ter) single nucleotide variant not provided [RCV003095541] Chr7:130381678 [GRCh38]
Chr7:130021519 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.143T>C (p.Leu48Pro) single nucleotide variant not provided [RCV002756130] Chr7:130381175 [GRCh38]
Chr7:130021016 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.115_123dup (p.Glu41_Leu42insValLysGlu) duplication not provided [RCV003019927] Chr7:130381144..130381145 [GRCh38]
Chr7:130020985..130020986 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.844T>C (p.Ser282Pro) single nucleotide variant not provided [RCV003037262] Chr7:130385202 [GRCh38]
Chr7:130025043 [GRCh37]
Chr7:7q32.2		 likely pathogenic
NM_001868.4(CPA1):c.361A>C (p.Thr121Pro) single nucleotide variant not provided [RCV003018310] Chr7:130381843 [GRCh38]
Chr7:130021684 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.241T>C (p.Ser81Pro) single nucleotide variant not provided [RCV002740038] Chr7:130381723 [GRCh38]
Chr7:130021564 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.884A>G (p.Asp295Gly) single nucleotide variant not provided [RCV002594601] Chr7:130385242 [GRCh38]
Chr7:130025083 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.204C>G (p.Pro68=) single nucleotide variant not provided [RCV003059183] Chr7:130381686 [GRCh38]
Chr7:130021527 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.696+4C>G single nucleotide variant not provided [RCV003082989] Chr7:130383798 [GRCh38]
Chr7:130023639 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1201_1203del (p.Lys401del) deletion not provided [RCV002828713] Chr7:130387952..130387954 [GRCh38]
Chr7:130027793..130027795 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.66-3del deletion not provided [RCV003085660] Chr7:130381093 [GRCh38]
Chr7:130020934 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.267G>A (p.Met89Ile) single nucleotide variant not provided [RCV002667381] Chr7:130381749 [GRCh38]
Chr7:130021590 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.734G>A (p.Gly245Asp) single nucleotide variant Hereditary pancreatitis [RCV003161885]|not provided [RCV002602720] Chr7:130384573 [GRCh38]
Chr7:130024414 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.157T>G (p.Trp53Gly) single nucleotide variant not provided [RCV002676060] Chr7:130381639 [GRCh38]
Chr7:130021480 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1138G>A (p.Glu380Lys) single nucleotide variant not provided [RCV003062143] Chr7:130387889 [GRCh38]
Chr7:130027730 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV002834892] Chr7:130385279 [GRCh38]
Chr7:130025120 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.49A>C (p.Lys17Gln) single nucleotide variant Hereditary pancreatitis [RCV004227325] Chr7:130380569 [GRCh38]
Chr7:130020410 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.758C>A (p.Pro253His) single nucleotide variant not provided [RCV003046704] Chr7:130384597 [GRCh38]
Chr7:130024438 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.179G>C (p.Gly60Ala) single nucleotide variant Hereditary pancreatitis [RCV003294537]|not provided [RCV002603154] Chr7:130381661 [GRCh38]
Chr7:130021502 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.697-9C>T single nucleotide variant not provided [RCV002725475] Chr7:130384527 [GRCh38]
Chr7:130024368 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1199C>T (p.Ala400Val) single nucleotide variant Hereditary pancreatitis [RCV003294521]|not provided [RCV002584665] Chr7:130387950 [GRCh38]
Chr7:130027791 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.409_410delinsTT (p.Ala137Leu) indel not provided [RCV002814399] Chr7:130382135..130382136 [GRCh38]
Chr7:130021976..130021977 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.313T>C (p.Phe105Leu) single nucleotide variant not provided [RCV002606611] Chr7:130381795 [GRCh38]
Chr7:130021636 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.839C>T (p.Ala280Val) single nucleotide variant Hereditary pancreatitis [RCV003181564] Chr7:130385197 [GRCh38]
Chr7:130025038 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.424C>T (p.Leu142Phe) single nucleotide variant Hereditary pancreatitis [RCV003181581] Chr7:130382150 [GRCh38]
Chr7:130021991 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.196C>A (p.Arg66=) single nucleotide variant Hereditary pancreatitis [RCV003181582] Chr7:130381678 [GRCh38]
Chr7:130021519 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.559G>A (p.Ala187Thr) single nucleotide variant Hereditary pancreatitis [RCV003181583] Chr7:130383466 [GRCh38]
Chr7:130023307 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.503A>G (p.Lys168Arg) single nucleotide variant Hereditary pancreatitis [RCV003181584] Chr7:130383410 [GRCh38]
Chr7:130023251 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.874T>A (p.Phe292Ile) single nucleotide variant Hereditary pancreatitis [RCV003181585] Chr7:130385232 [GRCh38]
Chr7:130025073 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.989A>T (p.Asp330Val) single nucleotide variant Hereditary pancreatitis [RCV003216504] Chr7:130385840 [GRCh38]
Chr7:130025681 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.420G>A (p.Pro140=) single nucleotide variant Hereditary pancreatitis [RCV003216490]|not provided [RCV003730475] Chr7:130382146 [GRCh38]
Chr7:130021987 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.149T>G (p.Leu50Arg) single nucleotide variant Hereditary pancreatitis [RCV003216488] Chr7:130381631 [GRCh38]
Chr7:130021472 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.411G>C (p.Ala137=) single nucleotide variant Hereditary pancreatitis [RCV003168237] Chr7:130382137 [GRCh38]
Chr7:130021978 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.420G>C (p.Pro140=) single nucleotide variant Hereditary pancreatitis [RCV003168238] Chr7:130382146 [GRCh38]
Chr7:130021987 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1033G>T (p.Gly345Trp) single nucleotide variant Hereditary pancreatitis [RCV003181566] Chr7:130385884 [GRCh38]
Chr7:130025725 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.353A>G (p.Asn118Ser) single nucleotide variant Hereditary pancreatitis [RCV003181569] Chr7:130381835 [GRCh38]
Chr7:130021676 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1254C>T (p.Pro418=) single nucleotide variant Hereditary pancreatitis [RCV003181570] Chr7:130388005 [GRCh38]
Chr7:130027846 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.905T>C (p.Phe302Ser) single nucleotide variant Hereditary pancreatitis [RCV003181571] Chr7:130385263 [GRCh38]
Chr7:130025104 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1215G>A (p.Leu405=) single nucleotide variant Hereditary pancreatitis [RCV003181572] Chr7:130387966 [GRCh38]
Chr7:130027807 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.17T>C (p.Val6Ala) single nucleotide variant Hereditary pancreatitis [RCV003181573] Chr7:130380537 [GRCh38]
Chr7:130020378 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.338C>T (p.Ser113Phe) single nucleotide variant Hereditary pancreatitis [RCV003181579] Chr7:130381820 [GRCh38]
Chr7:130021661 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.536A>G (p.His179Arg) single nucleotide variant Hereditary pancreatitis [RCV003181565] Chr7:130383443 [GRCh38]
Chr7:130023284 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.469A>C (p.Ile157Leu) single nucleotide variant Hereditary pancreatitis [RCV003181567] Chr7:130382195 [GRCh38]
Chr7:130022036 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.816G>C (p.Ser272=) single nucleotide variant Hereditary pancreatitis [RCV003181568] Chr7:130385174 [GRCh38]
Chr7:130025015 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.448A>C (p.Asn150His) single nucleotide variant Hereditary pancreatitis [RCV003181574] Chr7:130382174 [GRCh38]
Chr7:130022015 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.382A>G (p.Ile128Val) single nucleotide variant Hereditary pancreatitis [RCV003181575]|not provided [RCV003708736] Chr7:130382108 [GRCh38]
Chr7:130021949 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.176C>G (p.Pro59Arg) single nucleotide variant Hereditary pancreatitis [RCV003181576] Chr7:130381658 [GRCh38]
Chr7:130021499 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.649C>A (p.Leu217Met) single nucleotide variant Hereditary pancreatitis [RCV003181577] Chr7:130383747 [GRCh38]
Chr7:130023588 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.342C>A (p.Thr114=) single nucleotide variant Hereditary pancreatitis [RCV003181578] Chr7:130381824 [GRCh38]
Chr7:130021665 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.84C>A (p.Ile28=) single nucleotide variant Hereditary pancreatitis [RCV003181580] Chr7:130381116 [GRCh38]
Chr7:130020957 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.595G>A (p.Asp199Asn) single nucleotide variant Hereditary pancreatitis [RCV003301395] Chr7:130383693 [GRCh38]
Chr7:130023534 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.612A>C (p.Ala204=) single nucleotide variant Hereditary pancreatitis [RCV003168239] Chr7:130383710 [GRCh38]
Chr7:130023551 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.836T>C (p.Phe279Ser) single nucleotide variant Hereditary pancreatitis [RCV003168240] Chr7:130385194 [GRCh38]
Chr7:130025035 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.756C>T (p.Asp252=) single nucleotide variant Hereditary pancreatitis [RCV003168241] Chr7:130384595 [GRCh38]
Chr7:130024436 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.14T>C (p.Leu5Pro) single nucleotide variant Hereditary pancreatitis [RCV003216507] Chr7:130380534 [GRCh38]
Chr7:130020375 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.368A>G (p.His123Arg) single nucleotide variant Hereditary pancreatitis [RCV003216506]|not provided [RCV003720808] Chr7:130381850 [GRCh38]
Chr7:130021691 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.895A>T (p.Ile299Phe) single nucleotide variant Hereditary pancreatitis [RCV003216505] Chr7:130385253 [GRCh38]
Chr7:130025094 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.865A>T (p.Ile289Phe) single nucleotide variant Hereditary pancreatitis [RCV003216502] Chr7:130385223 [GRCh38]
Chr7:130025064 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.143T>G (p.Leu48Arg) single nucleotide variant Hereditary pancreatitis [RCV003216497] Chr7:130381175 [GRCh38]
Chr7:130021016 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.178G>A (p.Gly60Ser) single nucleotide variant Hereditary pancreatitis [RCV003216496] Chr7:130381660 [GRCh38]
Chr7:130021501 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1110C>G (p.Ser370Arg) single nucleotide variant Hereditary pancreatitis [RCV003216495] Chr7:130387861 [GRCh38]
Chr7:130027702 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys) single nucleotide variant Hereditary pancreatitis [RCV003216494]|not provided [RCV003779759] Chr7:130388007 [GRCh38]
Chr7:130027848 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1180T>C (p.Ser394Pro) single nucleotide variant Hereditary pancreatitis [RCV003216493] Chr7:130387931 [GRCh38]
Chr7:130027772 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1010T>C (p.Val337Ala) single nucleotide variant Hereditary pancreatitis [RCV003216492] Chr7:130385861 [GRCh38]
Chr7:130025702 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.471T>C (p.Ile157=) single nucleotide variant Hereditary pancreatitis [RCV003305486] Chr7:130382197 [GRCh38]
Chr7:130022038 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.285G>A (p.Ser95=) single nucleotide variant Hereditary pancreatitis [RCV003305488] Chr7:130381767 [GRCh38]
Chr7:130021608 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.868G>T (p.Val290Leu) single nucleotide variant Hereditary pancreatitis [RCV003305489] Chr7:130385226 [GRCh38]
Chr7:130025067 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.629T>A (p.Leu210His) single nucleotide variant Hereditary pancreatitis [RCV003305490] Chr7:130383727 [GRCh38]
Chr7:130023568 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.539C>T (p.Ser180Phe) single nucleotide variant Hereditary pancreatitis [RCV003305492] Chr7:130383446 [GRCh38]
Chr7:130023287 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.730G>A (p.Ala244Thr) single nucleotide variant Hereditary pancreatitis [RCV003305493] Chr7:130384569 [GRCh38]
Chr7:130024410 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1164C>T (p.Gly388=) single nucleotide variant Hereditary pancreatitis [RCV003305494] Chr7:130387915 [GRCh38]
Chr7:130027756 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.674G>T (p.Gly225Val) single nucleotide variant Hereditary pancreatitis [RCV003380195] Chr7:130383772 [GRCh38]
Chr7:130023613 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.650T>C (p.Leu217Pro) single nucleotide variant Hereditary pancreatitis [RCV003380198] Chr7:130383748 [GRCh38]
Chr7:130023589 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.451A>G (p.Thr151Ala) single nucleotide variant Hereditary pancreatitis [RCV003380203] Chr7:130382177 [GRCh38]
Chr7:130022018 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.532A>C (p.Ile178Leu) single nucleotide variant Hereditary pancreatitis [RCV003380197] Chr7:130383439 [GRCh38]
Chr7:130023280 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.400C>A (p.Leu134Met) single nucleotide variant Hereditary pancreatitis [RCV003380201] Chr7:130382126 [GRCh38]
Chr7:130021967 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.216C>A (p.Ile72=) single nucleotide variant Hereditary pancreatitis [RCV003386667] Chr7:130381698 [GRCh38]
Chr7:130021539 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.948T>C (p.Tyr316=) single nucleotide variant Hereditary pancreatitis [RCV003386699] Chr7:130385306 [GRCh38]
Chr7:130025147 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.163G>T (p.Gly55Trp) single nucleotide variant Hereditary pancreatitis [RCV003386710]|not provided [RCV003720872] Chr7:130381645 [GRCh38]
Chr7:130021486 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1142T>A (p.Leu381His) single nucleotide variant Hereditary pancreatitis [RCV003386720] Chr7:130387893 [GRCh38]
Chr7:130027734 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.102C>T (p.Ala34=) single nucleotide variant Hereditary pancreatitis [RCV003386627] Chr7:130381134 [GRCh38]
Chr7:130020975 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1141C>T (p.Leu381Phe) single nucleotide variant Hereditary pancreatitis [RCV003386779] Chr7:130387892 [GRCh38]
Chr7:130027733 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.120G>A (p.Lys40=) single nucleotide variant Hereditary pancreatitis [RCV003386761] Chr7:130381152 [GRCh38]
Chr7:130020993 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1069A>G (p.Ile357Val) single nucleotide variant Hereditary pancreatitis [RCV003386750] Chr7:130385920 [GRCh38]
Chr7:130025761 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.406G>A (p.Val136Met) single nucleotide variant Hereditary pancreatitis [RCV003386787] Chr7:130382132 [GRCh38]
Chr7:130021973 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.8G>T (p.Gly3Val) single nucleotide variant Hereditary pancreatitis [RCV003386798] Chr7:130380528 [GRCh38]
Chr7:130020369 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.944C>T (p.Pro315Leu) single nucleotide variant Hereditary pancreatitis [RCV003386809] Chr7:130385302 [GRCh38]
Chr7:130025143 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-3C>G single nucleotide variant not provided [RCV003877864] Chr7:130383681 [GRCh38]
Chr7:130023522 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.402G>A (p.Leu134=) single nucleotide variant not provided [RCV003689773] Chr7:130382128 [GRCh38]
Chr7:130021969 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.149T>C (p.Leu50Pro) single nucleotide variant not provided [RCV003664117] Chr7:130381631 [GRCh38]
Chr7:130021472 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1232T>C (p.Met411Thr) single nucleotide variant Hereditary pancreatitis [RCV004511131] Chr7:130387983 [GRCh38]
Chr7:130027824 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.236T>C (p.Leu79Pro) single nucleotide variant Hereditary pancreatitis [RCV004511137] Chr7:130381718 [GRCh38]
Chr7:130021559 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.461G>A (p.Gly154Glu) single nucleotide variant Hereditary pancreatitis [RCV004511147] Chr7:130382187 [GRCh38]
Chr7:130022028 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.638T>G (p.Leu213Trp) single nucleotide variant Hereditary pancreatitis [RCV004511162] Chr7:130383736 [GRCh38]
Chr7:130023577 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.64G>C (p.Gly22Arg) single nucleotide variant Hereditary pancreatitis [RCV004511165] Chr7:130380584 [GRCh38]
Chr7:130020425 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.95A>G (p.Asp32Gly) single nucleotide variant Hereditary pancreatitis [RCV004511178] Chr7:130381127 [GRCh38]
Chr7:130020968 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.701G>T (p.Arg234Leu) single nucleotide variant Hereditary pancreatitis [RCV004511170] Chr7:130384540 [GRCh38]
Chr7:130024381 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.65+1dup duplication not provided [RCV003696902] Chr7:130380582..130380583 [GRCh38]
Chr7:130020423..130020424 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1133C>A (p.Thr378Asn) single nucleotide variant Hereditary pancreatitis [RCV004511121] Chr7:130387884 [GRCh38]
Chr7:130027725 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1134C>A (p.Thr378=) single nucleotide variant Hereditary pancreatitis [RCV004511122] Chr7:130387885 [GRCh38]
Chr7:130027726 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1247A>C (p.Asn416Thr) single nucleotide variant Hereditary pancreatitis [RCV004511133] Chr7:130387998 [GRCh38]
Chr7:130027839 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.212G>A (p.Ser71Asn) single nucleotide variant Hereditary pancreatitis [RCV004511136] Chr7:130381694 [GRCh38]
Chr7:130021535 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.643A>G (p.Ile215Val) single nucleotide variant Hereditary pancreatitis [RCV004511164] Chr7:130383741 [GRCh38]
Chr7:130023582 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.670G>A (p.Asp224Asn) single nucleotide variant Hereditary pancreatitis [RCV004511168] Chr7:130383768 [GRCh38]
Chr7:130023609 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.904T>A (p.Phe302Ile) single nucleotide variant Hereditary pancreatitis [RCV004511175] Chr7:130385262 [GRCh38]
Chr7:130025103 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.953A>G (p.Tyr318Cys) single nucleotide variant Hereditary pancreatitis [RCV004511177] Chr7:130385311 [GRCh38]
Chr7:130025152 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV003560564] Chr7:130380523 [GRCh38]
Chr7:130020364 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1251C>A (p.His417Gln) single nucleotide variant Hereditary pancreatitis [RCV004374097]|not provided [RCV003725805] Chr7:130388002 [GRCh38]
Chr7:130027843 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.788-11T>C single nucleotide variant not provided [RCV003560431] Chr7:130385135 [GRCh38]
Chr7:130024976 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.261_262dup (p.Thr88fs) microsatellite not provided [RCV003855675] Chr7:130381740..130381741 [GRCh38]
Chr7:130021581..130021582 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.585+10G>T single nucleotide variant not provided [RCV003834399] Chr7:130383502 [GRCh38]
Chr7:130023343 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1120A>G (p.Lys374Glu) single nucleotide variant not provided [RCV003837699] Chr7:130387871 [GRCh38]
Chr7:130027712 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.315C>T (p.Phe105=) single nucleotide variant not provided [RCV003854284] Chr7:130381797 [GRCh38]
Chr7:130021638 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1156C>A (p.Arg386Ser) single nucleotide variant Hereditary pancreatitis [RCV004511126] Chr7:130387907 [GRCh38]
Chr7:130027748 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1179C>A (p.Ala393=) single nucleotide variant Hereditary pancreatitis [RCV004511128] Chr7:130387930 [GRCh38]
Chr7:130027771 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1209G>T (p.Thr403=) single nucleotide variant Hereditary pancreatitis [RCV004511129] Chr7:130387960 [GRCh38]
Chr7:130027801 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.300G>A (p.Glu100=) single nucleotide variant Hereditary pancreatitis [RCV004511140] Chr7:130381782 [GRCh38]
Chr7:130021623 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.310A>T (p.Met104Leu) single nucleotide variant Hereditary pancreatitis [RCV004511141] Chr7:130381792 [GRCh38]
Chr7:130021633 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.447C>T (p.Gly149=) single nucleotide variant Hereditary pancreatitis [RCV004511146] Chr7:130382173 [GRCh38]
Chr7:130022014 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.554C>T (p.Thr185Ile) single nucleotide variant Hereditary pancreatitis [RCV004511155] Chr7:130383461 [GRCh38]
Chr7:130023302 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.985C>T (p.Leu329=) single nucleotide variant Hereditary pancreatitis [RCV004511180] Chr7:130385343 [GRCh38]
Chr7:130025184 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.160C>T (p.Arg54Trp) single nucleotide variant not provided [RCV003717234] Chr7:130381642 [GRCh38]
Chr7:130021483 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.332C>A (p.Ala111Glu) single nucleotide variant not provided [RCV003834302] Chr7:130381814 [GRCh38]
Chr7:130021655 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.341C>T (p.Thr114Ile) single nucleotide variant Hereditary pancreatitis [RCV004366709]|not provided [RCV003816241] Chr7:130381823 [GRCh38]
Chr7:130021664 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.433A>G (p.Lys145Glu) single nucleotide variant not provided [RCV003845455] Chr7:130382159 [GRCh38]
Chr7:130022000 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.12G>A (p.Leu4=) single nucleotide variant not provided [RCV003675170] Chr7:130380532 [GRCh38]
Chr7:130020373 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1007C>T (p.Ala336Val) single nucleotide variant not provided [RCV003848660] Chr7:130385858 [GRCh38]
Chr7:130025699 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1072+11G>A single nucleotide variant not provided [RCV003733846] Chr7:130385934 [GRCh38]
Chr7:130025775 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1073-1G>A single nucleotide variant not provided [RCV003566851] Chr7:130387823 [GRCh38]
Chr7:130027664 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1177G>C (p.Ala393Pro) single nucleotide variant Hereditary pancreatitis [RCV002339886] Chr7:130387928 [GRCh38]
Chr7:130027769 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-8C>T single nucleotide variant not provided [RCV003095707] Chr7:130383676 [GRCh38]
Chr7:130023517 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1073-6C>A single nucleotide variant not provided [RCV002971068] Chr7:130387818 [GRCh38]
Chr7:130027659 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.179G>T (p.Gly60Val) single nucleotide variant not provided [RCV002622896] Chr7:130381661 [GRCh38]
Chr7:130021502 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.974A>T (p.Asp325Val) single nucleotide variant Hereditary pancreatitis [RCV003167781]|not provided [RCV002806031] Chr7:130385332 [GRCh38]
Chr7:130025173 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.923A>C (p.Tyr308Ser) single nucleotide variant not provided [RCV003047281] Chr7:130385281 [GRCh38]
Chr7:130025122 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.483+5C>T single nucleotide variant not provided [RCV002604292] Chr7:130382214 [GRCh38]
Chr7:130022055 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.164G>A (p.Gly55Glu) single nucleotide variant Hereditary pancreatitis [RCV003216501] Chr7:130381646 [GRCh38]
Chr7:130021487 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.297G>A (p.Glu99=) single nucleotide variant Hereditary pancreatitis [RCV003216500] Chr7:130381779 [GRCh38]
Chr7:130021620 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1158C>T (p.Arg386=) single nucleotide variant Hereditary pancreatitis [RCV003216499] Chr7:130387909 [GRCh38]
Chr7:130027750 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1017C>G (p.Ala339=) single nucleotide variant Hereditary pancreatitis [RCV003380204] Chr7:130385868 [GRCh38]
Chr7:130025709 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.63G>A (p.Val21=) single nucleotide variant Hereditary pancreatitis [RCV003380206] Chr7:130380583 [GRCh38]
Chr7:130020424 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.716C>T (p.Thr239Ile) single nucleotide variant Hereditary pancreatitis [RCV003380205] Chr7:130384555 [GRCh38]
Chr7:130024396 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.514A>G (p.Ile172Val) single nucleotide variant Hereditary pancreatitis [RCV003380194] Chr7:130383421 [GRCh38]
Chr7:130023262 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.722C>G (p.Ser241Cys) single nucleotide variant Hereditary pancreatitis [RCV003380196] Chr7:130384561 [GRCh38]
Chr7:130024402 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.771G>C (p.Trp257Cys) single nucleotide variant Hereditary pancreatitis [RCV003380199] Chr7:130384610 [GRCh38]
Chr7:130024451 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1105T>C (p.Tyr369His) single nucleotide variant Hereditary pancreatitis [RCV003380200] Chr7:130387856 [GRCh38]
Chr7:130027697 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.920G>T (p.Ser307Ile) single nucleotide variant Hereditary pancreatitis [RCV003380202] Chr7:130385278 [GRCh38]
Chr7:130025119 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1061T>A (p.Ile354Asn) single nucleotide variant Hereditary pancreatitis [RCV004511119] Chr7:130385912 [GRCh38]
Chr7:130025753 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.10T>A (p.Leu4Met) single nucleotide variant Hereditary pancreatitis [RCV004511120] Chr7:130380530 [GRCh38]
Chr7:130020371 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1226C>A (p.Thr409Asn) single nucleotide variant Hereditary pancreatitis [RCV004511130] Chr7:130387977 [GRCh38]
Chr7:130027818 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.586-6C>A single nucleotide variant not provided [RCV003707635] Chr7:130383678 [GRCh38]
Chr7:130023519 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.420G>T (p.Pro140=) single nucleotide variant not provided [RCV003706540] Chr7:130382146 [GRCh38]
Chr7:130021987 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.987+16G>A single nucleotide variant not provided [RCV003733850] Chr7:130385361 [GRCh38]
Chr7:130025202 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.522C>A (p.Ile174=) single nucleotide variant not provided [RCV003709087] Chr7:130383429 [GRCh38]
Chr7:130023270 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.331G>A (p.Ala111Thr) single nucleotide variant not provided [RCV003721444] Chr7:130381813 [GRCh38]
Chr7:130021654 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.257_258del (p.Ser85_Tyr86insTer) deletion not provided [RCV003719970] Chr7:130381738..130381739 [GRCh38]
Chr7:130021579..130021580 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.381+11C>T single nucleotide variant not provided [RCV003853546] Chr7:130381874 [GRCh38]
Chr7:130021715 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.987+14T>C single nucleotide variant not provided [RCV003733731] Chr7:130385359 [GRCh38]
Chr7:130025200 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1023C>T (p.Ala341=) single nucleotide variant not provided [RCV003676834] Chr7:130385874 [GRCh38]
Chr7:130025715 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.381+7dup duplication not provided [RCV003728451] Chr7:130381867..130381868 [GRCh38]
Chr7:130021708..130021709 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1101G>C (p.Trp367Cys) single nucleotide variant not provided [RCV003706811] Chr7:130387852 [GRCh38]
Chr7:130027693 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.788-10C>A single nucleotide variant not provided [RCV003680890] Chr7:130385136 [GRCh38]
Chr7:130024977 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1143C>G (p.Leu381=) single nucleotide variant Hereditary pancreatitis [RCV004511125] Chr7:130387894 [GRCh38]
Chr7:130027735 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.156C>T (p.Phe52=) single nucleotide variant Hereditary pancreatitis [RCV004511135] Chr7:130381638 [GRCh38]
Chr7:130021479 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.247G>A (p.Gly83Ser) single nucleotide variant Hereditary pancreatitis [RCV004511138] Chr7:130381729 [GRCh38]
Chr7:130021570 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.294C>T (p.Asp98=) single nucleotide variant Hereditary pancreatitis [RCV004511139] Chr7:130381776 [GRCh38]
Chr7:130021617 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.537T>C (p.His179=) single nucleotide variant Hereditary pancreatitis [RCV004511152] Chr7:130383444 [GRCh38]
Chr7:130023285 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.54G>C (p.Glu18Asp) single nucleotide variant Hereditary pancreatitis [RCV004511153] Chr7:130380574 [GRCh38]
Chr7:130020415 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.662C>T (p.Thr221Ile) single nucleotide variant Hereditary pancreatitis [RCV004511167] Chr7:130383760 [GRCh38]
Chr7:130023601 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.851T>G (p.Val284Gly) single nucleotide variant Hereditary pancreatitis [RCV004511174] Chr7:130385209 [GRCh38]
Chr7:130025050 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.991C>G (p.Gln331Glu) single nucleotide variant Hereditary pancreatitis [RCV004511181] Chr7:130385842 [GRCh38]
Chr7:130025683 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.431G>T (p.Ser144Ile) single nucleotide variant Hereditary pancreatitis [RCV004511145] Chr7:130382157 [GRCh38]
Chr7:130021998 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.116T>C (p.Val39Ala) single nucleotide variant Hereditary pancreatitis [RCV004372303] Chr7:130381148 [GRCh38]
Chr7:130020989 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1073A>G (p.Tyr358Cys) single nucleotide variant Hereditary pancreatitis [RCV004372302] Chr7:130387824 [GRCh38]
Chr7:130027665 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.1180T>A (p.Ser394Thr) single nucleotide variant Hereditary pancreatitis [RCV004372304] Chr7:130387931 [GRCh38]
Chr7:130027772 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.385T>C (p.Tyr129His) single nucleotide variant Hereditary pancreatitis [RCV004511143] Chr7:130382111 [GRCh38]
Chr7:130021952 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.581A>G (p.Lys194Arg) single nucleotide variant Hereditary pancreatitis [RCV004511156] Chr7:130383488 [GRCh38]
Chr7:130023329 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.949G>A (p.Gly317Ser) single nucleotide variant Hereditary pancreatitis [RCV004511176] Chr7:130385307 [GRCh38]
Chr7:130025148 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.99G>A (p.Glu33=) single nucleotide variant Hereditary pancreatitis [RCV004511182] Chr7:130381131 [GRCh38]
Chr7:130020972 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.312G>A (p.Met104Ile) single nucleotide variant Hereditary pancreatitis [RCV004511142] Chr7:130381794 [GRCh38]
Chr7:130021635 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.520A>T (p.Ile174Phe) single nucleotide variant Hereditary pancreatitis [RCV004511151] Chr7:130383427 [GRCh38]
Chr7:130023268 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.601G>T (p.Gly201Trp) single nucleotide variant Hereditary pancreatitis [RCV004511157] Chr7:130383699 [GRCh38]
Chr7:130023540 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.61G>C (p.Val21Leu) single nucleotide variant Hereditary pancreatitis [RCV004511159] Chr7:130380581 [GRCh38]
Chr7:130020422 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.626T>C (p.Ile209Thr) single nucleotide variant Hereditary pancreatitis [RCV004511161] Chr7:130383724 [GRCh38]
Chr7:130023565 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.69T>C (p.His23=) single nucleotide variant Hereditary pancreatitis [RCV004511169] Chr7:130381101 [GRCh38]
Chr7:130020942 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.84C>T (p.Ile28=) single nucleotide variant Hereditary pancreatitis [RCV004511173] Chr7:130381116 [GRCh38]
Chr7:130020957 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1158C>A (p.Arg386=) single nucleotide variant Hereditary pancreatitis [RCV004511127] Chr7:130387909 [GRCh38]
Chr7:130027750 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1233G>T (p.Met411Ile) single nucleotide variant Hereditary pancreatitis [RCV004511132] Chr7:130387984 [GRCh38]
Chr7:130027825 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.126G>A (p.Leu42=) single nucleotide variant Hereditary pancreatitis [RCV004511134] Chr7:130381158 [GRCh38]
Chr7:130020999 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.496G>T (p.Gly166Cys) single nucleotide variant Hereditary pancreatitis [RCV004511149] Chr7:130383403 [GRCh38]
Chr7:130023244 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.51G>A (p.Lys17=) single nucleotide variant Hereditary pancreatitis [RCV004511150] Chr7:130380571 [GRCh38]
Chr7:130020412 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.551T>C (p.Val184Ala) single nucleotide variant Hereditary pancreatitis [RCV004511154] Chr7:130383458 [GRCh38]
Chr7:130023299 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.602G>T (p.Gly201Val) single nucleotide variant Hereditary pancreatitis [RCV004511158] Chr7:130383700 [GRCh38]
Chr7:130023541 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.625A>G (p.Ile209Val) single nucleotide variant Hereditary pancreatitis [RCV004511160] Chr7:130383723 [GRCh38]
Chr7:130023564 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.656T>C (p.Ile219Thr) single nucleotide variant Hereditary pancreatitis [RCV004511166] Chr7:130383754 [GRCh38]
Chr7:130023595 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.762C>A (p.Asn254Lys) single nucleotide variant Hereditary pancreatitis [RCV004511171] Chr7:130384601 [GRCh38]
Chr7:130024442 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.972T>C (p.Pro324=) single nucleotide variant Hereditary pancreatitis [RCV004511179] Chr7:130385330 [GRCh38]
Chr7:130025171 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.147+5G>C single nucleotide variant not provided [RCV003884131] Chr7:130381184 [GRCh38]
Chr7:130021025 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.1134C>G (p.Thr378=) single nucleotide variant Hereditary pancreatitis [RCV004511123] Chr7:130387885 [GRCh38]
Chr7:130027726 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.527C>A (p.Thr176Lys) single nucleotide variant not provided [RCV003567229] Chr7:130383434 [GRCh38]
Chr7:130023275 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.787+20G>C single nucleotide variant not provided [RCV003733854] Chr7:130384646 [GRCh38]
Chr7:130024487 [GRCh37]
Chr7:7q32.2		 likely benign
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_001868.4(CPA1):c.148-18G>T single nucleotide variant not provided [RCV003733655] Chr7:130381612 [GRCh38]
Chr7:130021453 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.148-18G>A single nucleotide variant not provided [RCV003733683] Chr7:130381612 [GRCh38]
Chr7:130021453 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.381+20C>T single nucleotide variant not provided [RCV003733989] Chr7:130381883 [GRCh38]
Chr7:130021724 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.423C>G (p.His141Gln) single nucleotide variant Hereditary pancreatitis [RCV004511144] Chr7:130382149 [GRCh38]
Chr7:130021990 [GRCh37]
Chr7:7q32.2		 likely benign
NM_001868.4(CPA1):c.475G>A (p.Val159Met) single nucleotide variant Hereditary pancreatitis [RCV004511148] Chr7:130382201 [GRCh38]
Chr7:130022042 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.643A>C (p.Ile215Leu) single nucleotide variant Hereditary pancreatitis [RCV004511163] Chr7:130383741 [GRCh38]
Chr7:130023582 [GRCh37]
Chr7:7q32.2		 uncertain significance
NM_001868.4(CPA1):c.767A>G (p.Asn256Ser) single nucleotide variant Hereditary pancreatitis [RCV004511172] Chr7:130384606 [GRCh38]
Chr7:130024447 [GRCh37]
Chr7:7q32.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2326
Count of miRNA genes:815
Interacting mature miRNAs:969
Transcripts:ENST00000011292, ENST00000470838, ENST00000476062, ENST00000478096, ENST00000479106, ENST00000481342, ENST00000484324, ENST00000491460, ENST00000604896
Prediction methods:Miranda, Rnahybrid, Targetscan
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
CPA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,025,680 - 130,025,762UniSTSGRCh37
Build 367129,812,916 - 129,812,998RGDNCBI36
Celera7124,821,446 - 124,821,528RGD
Cytogenetic Map7q32UniSTS
HuRef7124,387,783 - 124,387,865UniSTS
CRA_TCAGchr7v27129,411,065 - 129,411,147UniSTS
RH47473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,027,743 - 130,027,882UniSTSGRCh37
Build 367129,814,979 - 129,815,118RGDNCBI36
Celera7124,823,509 - 124,823,648RGD
Cytogenetic Map7q32UniSTS
HuRef7124,389,847 - 124,389,986UniSTS
CRA_TCAGchr7v27129,413,128 - 129,413,267UniSTS
GeneMap99-GB4 RH Map7595.37UniSTS
NCBI RH Map71179.1UniSTS
RH47474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,027,771 - 130,027,891UniSTSGRCh37
Build 367129,815,007 - 129,815,127RGDNCBI36
Celera7124,823,537 - 124,823,657RGD
Cytogenetic Map7q32UniSTS
HuRef7124,389,875 - 124,389,995UniSTS
CRA_TCAGchr7v27129,413,156 - 129,413,276UniSTS
GeneMap99-GB4 RH Map7598.63UniSTS


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 adipose tissue appendage entire extraembryonic component
High 2 7 2 1 6 3
Medium 311 330 208 57 163 38 444 191 269 10 271 169 18 198 302 1
Low 1215 1539 874 235 558 148 2316 1001 1712 120 803 688 87 953 1495 1
Below cutoff 544 648 321 120 220 82 1166 752 1330 92 213 409 40 47 878

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC378103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY124156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000011292   ⟹   ENSP00000011292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,380,494 - 130,388,108 (+)Ensembl
RefSeq Acc Id: ENST00000470838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,383,699 - 130,385,061 (+)Ensembl
RefSeq Acc Id: ENST00000476062   ⟹   ENSP00000419408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,380,867 - 130,385,923 (+)Ensembl
RefSeq Acc Id: ENST00000478096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,384,635 - 130,385,979 (+)Ensembl
RefSeq Acc Id: ENST00000479106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,383,784 - 130,388,107 (+)Ensembl
RefSeq Acc Id: ENST00000481342   ⟹   ENSP00000420218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,380,339 - 130,383,482 (+)Ensembl
RefSeq Acc Id: ENST00000484324   ⟹   ENSP00000419497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,381,093 - 130,388,114 (+)Ensembl
RefSeq Acc Id: ENST00000491460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,380,494 - 130,384,199 (+)Ensembl
RefSeq Acc Id: ENST00000604896   ⟹   ENSP00000475021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7130,380,494 - 130,385,868 (+)Ensembl
RefSeq Acc Id: NM_001868   ⟹   NP_001859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387130,380,494 - 130,388,108 (+)NCBI
GRCh377130,020,290 - 130,027,949 (+)ENTREZGENE
Build 367129,807,591 - 129,815,185 (+)NCBI Archive
HuRef7124,382,393 - 124,390,053 (+)ENTREZGENE
CHM1_17129,953,629 - 129,961,367 (+)NCBI
T2T-CHM13v2.07131,694,217 - 131,701,830 (+)NCBI
CRA_TCAGchr7v27129,405,674 - 129,413,334 (+)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001859   ⟸   NM_001868
- Peptide Label: preproprotein
- UniProtKB: Q9BS67 (UniProtKB/Swiss-Prot),   Q53XU0 (UniProtKB/Swiss-Prot),   A4D1M1 (UniProtKB/Swiss-Prot),   Q9UCF2 (UniProtKB/Swiss-Prot),   P15085 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420218   ⟸   ENST00000481342
RefSeq Acc Id: ENSP00000419497   ⟸   ENST00000484324
RefSeq Acc Id: ENSP00000011292   ⟸   ENST00000011292
RefSeq Acc Id: ENSP00000475021   ⟸   ENST00000604896
RefSeq Acc Id: ENSP00000419408   ⟸   ENST00000476062
Protein Domains
Carboxypeptidase activation peptide   Peptidase M14   Peptidase M14 carboxypeptidase A

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15085-F1-model_v2 AlphaFold P15085 1-419 view protein structure

Promoters
RGD ID:6851686
Promoter ID:EP73645
Type:single initiation site
Name:HS_CPA1
Description:Carboxypeptidase A1 (pancreatic).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 367129,807,571 - 129,807,631EPD
RGD ID:7211929
Promoter ID:EPDNEW_H11709
Type:initiation region
Name:CPA1_2
Description:carboxypeptidase A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11710  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387130,380,371 - 130,380,431EPDNEW
RGD ID:7211927
Promoter ID:EPDNEW_H11710
Type:multiple initiation site
Name:CPA1_1
Description:carboxypeptidase A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11709  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387130,380,494 - 130,380,554EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2296 AgrOrtholog
COSMIC CPA1 COSMIC
Ensembl Genes ENSG00000091704 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000011292 ENTREZGENE
  ENST00000011292.8 UniProtKB/Swiss-Prot
  ENST00000476062.5 UniProtKB/TrEMBL
  ENST00000481342.5 UniProtKB/TrEMBL
  ENST00000484324.1 UniProtKB/TrEMBL
  ENST00000604896.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091704 GTEx
HGNC ID HGNC:2296 ENTREZGENE
Human Proteome Map CPA1 Human Proteome Map
InterPro CPA_M14_CPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M14A-like_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M14A_act_pep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1357 UniProtKB/Swiss-Prot
NCBI Gene 1357 ENTREZGENE
OMIM 114850 OMIM
PANTHER CARBOXYPEPTIDASE A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASE FAMILY M14 CARBOXYPEPTIDASE A,B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Propep_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26816 PharmGKB
PRINTS CRBOXYPTASEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYPEPT_ZN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBOXYPEPT_ZN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_M14 UniProtKB/Swiss-Prot
SMART Zn_pept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Protease propeptides/inhibitors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2P1GJC9_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD0_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD3_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD5_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD7_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD8_HUMAN UniProtKB/TrEMBL
  A0A2P1GJD9_HUMAN UniProtKB/TrEMBL
  A0A2P1GJE0_HUMAN UniProtKB/TrEMBL
  A0A2P1GJE1_HUMAN UniProtKB/TrEMBL
  A0A2P1GJE2_HUMAN UniProtKB/TrEMBL
  A0A2P1GJF1_HUMAN UniProtKB/TrEMBL
  A4D1M1 ENTREZGENE
  C9JQ63_HUMAN UniProtKB/TrEMBL
  C9JUF9_HUMAN UniProtKB/TrEMBL
  C9JUZ4_HUMAN UniProtKB/TrEMBL
  CBPA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53XU0 ENTREZGENE
  Q9BS67 ENTREZGENE
  Q9UCF2 ENTREZGENE
  S4R433_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D1M1 UniProtKB/Swiss-Prot
  Q53XU0 UniProtKB/Swiss-Prot
  Q9BS67 UniProtKB/Swiss-Prot
  Q9UCF2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CPA1  carboxypeptidase A1  CPA1  carboxypeptidase A1 (pancreatic)  Symbol and/or name change 5135510 APPROVED