RGD:8697989 Rat Genome Database

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Variant: RGD:8697989 -  Homo sapiens

RGD ID: 8697989
RS ID: rs587782418
ClinVar ID: CV152093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 88,659,569
GRCh38 10 86,899,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_298t1:c.352C>G
LRG_298:g.148174C>G
NG_009362.1:g.148174C>G
NC_000010.11:g.86899812C>G
More...
11/25/2019 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR1A
Accession:NM_004329
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:XM_047425680
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406562
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406568
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406567
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406564
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406566
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406577
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406572
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406582
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406570
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406565
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406574
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406573
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406576
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406575
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406571
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406563
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406581
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406561
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406584
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDF
QCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRR
YNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEE
ASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTE
IYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMA
DIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNP
ASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406579
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406569
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406578
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406580
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDF
LKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNT
RVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406560
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKFKRYSCLSLASNWDYRHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPL
LVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQ
LYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLA
VKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSD
PSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406559
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKGHLLLRVIHIRGQLESEGGVPVVLRHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQS
SGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAAD
IKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGS
CCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQL
PYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406583
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNG
HCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISM
AVCIIAMIIFSSCFCYKHYCKSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLRTIAKQIQMVRQVGK
GRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLK
CATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRV
GTKRYMAPEVLDESLNKNHFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPI
VSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406588
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDF
QCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRR
YNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEE
ASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTE
IYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMA
DIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNP
ASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406587
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDF
QCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRR
YNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEE
ASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTE
IYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMA
DIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNP
ASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406585
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDF
QCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRR
YNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEE
ASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTE
IYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMA
DIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNP
ASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NM_001406586
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHGTGMKSDSDQKKSENGVTLAPEDTLPFLKCYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDF
QCKDSPKAQVRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYCKSISSRRR
YNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQVGKGRYGEVWMGKWRGEKVAVKVFFTTEE
ASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTE
IYGTQGKPAIAHRDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKNHFQPYIMA
DIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLRPIVSNRWNSDECLRAVLKLMSECWAHNP
ASRLTALRIKKTLAKMVESQDVKI*

Gene Symbol:BMPR1A
Accession:NR_176213
Location:EXON;NON-CODING

Gene Symbol:BMPR1A
Accession:NR_176212
Location:EXON;NON-CODING

Gene Symbol:BMPR1A
Accession:NR_176211
Location:EXON;NON-CODING

Gene Symbol:BMPR1A
Accession:NM_001406589
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000131465 CLINVAR
  RCV001229394 CLINVAR
dbSNP (RS) rs587782418 CLINVAR
MedGen C0027672 CLINVAR
  C0345893 CLINVAR
NCBI Gene BMPR1A CLINVAR
OMIM 174900 CLINVAR
  601299 CLINVAR
SNOMED CT 699346009 CLINVAR
  9273005 CLINVAR