Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53951949delCA2624918606BMP4c.277del (p.Glu93ArgfsTer25)
c.202del (p.Glu68ArgfsTer25)
c.88del (p.Glu30ArgfsTer25)
c.277del (p.Glu93ArgfsTer?)
c.418del (p.Glu140ArgfsTer25)
 gnomAD v4
14g.53951948C>ACA389785204BMP4c.275G>T (p.Gly92Val)
c.200G>T (p.Gly67Val)
c.86G>T (p.Gly29Val)
c.416G>T (p.Gly139Val)
 gnomAD v4
14g.53951948C>GCA389785205BMP4c.275G>C (p.Gly92Ala)
c.200G>C (p.Gly67Ala)
c.86G>C (p.Gly29Ala)
c.416G>C (p.Gly139Ala)
 gnomAD v4
14g.53951948C>TCA389785206BMP4c.275G>A (p.Gly92Glu)
c.200G>A (p.Gly67Glu)
c.86G>A (p.Gly29Glu)
c.416G>A (p.Gly139Glu)
14g.53951949C>ACA389785207BMP4c.274G>T (p.Gly92Trp)
c.199G>T (p.Gly67Trp)
c.85G>T (p.Gly29Trp)
c.415G>T (p.Gly139Trp)
14g.53951949C>GCA389785208BMP4c.274G>C (p.Gly92Arg)
c.199G>C (p.Gly67Arg)
c.85G>C (p.Gly29Arg)
c.415G>C (p.Gly139Arg)
14g.53951949C>TCA389785209BMP4c.274G>A (p.Gly92Arg)
c.199G>A (p.Gly67Arg)
c.85G>A (p.Gly29Arg)
c.415G>A (p.Gly139Arg)
14g.53951950A>CCA486658657BMP4c.273T>G (p.Ser91=)
c.198T>G (p.Ser66=)
c.84T>G (p.Ser28=)
c.414T>G (p.Ser138=)
14g.53951950A>GCA486658658BMP4c.273T>C (p.Ser91=)
c.198T>C (p.Ser66=)
c.84T>C (p.Ser28=)
c.414T>C (p.Ser138=)
 gnomAD v4
14g.53951950A>TCA486658659BMP4c.273T>A (p.Ser91=)
c.198T>A (p.Ser66=)
c.84T>A (p.Ser28=)
c.414T>A (p.Ser138=)
14g.53951951G>ACA389785211BMP4c.272C>T (p.Ser91Phe)
c.197C>T (p.Ser66Phe)
c.83C>T (p.Ser28Phe)
c.413C>T (p.Ser138Phe)
14g.53951951G>CCA127330BMP4c.272C>G (p.Ser91Cys)
c.197C>G (p.Ser66Cys)
c.83C>G (p.Ser28Cys)
c.413C>G (p.Ser138Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951951G=CA2137819164BMP4c.272C= (p.Ser91=)
c.197C= (p.Ser66=)
c.83C= (p.Ser28=)
c.413C= (p.Ser138=)
14g.53951951G>TCA389785210BMP4c.272C>A (p.Ser91Tyr)
c.197C>A (p.Ser66Tyr)
c.83C>A (p.Ser28Tyr)
c.413C>A (p.Ser138Tyr)
 gnomAD v4
14g.53951952A>CCA389785212BMP4c.271T>G (p.Ser91Ala)
c.196T>G (p.Ser66Ala)
c.82T>G (p.Ser28Ala)
c.412T>G (p.Ser138Ala)
14g.53951952A>GCA389785213BMP4c.271T>C (p.Ser91Pro)
c.196T>C (p.Ser66Pro)
c.82T>C (p.Ser28Pro)
c.412T>C (p.Ser138Pro)
 gnomAD v4
14g.53951952A>TCA389785214BMP4c.271T>A (p.Ser91Thr)
c.196T>A (p.Ser66Thr)
c.82T>A (p.Ser28Thr)
c.412T>A (p.Ser138Thr)
14g.53951952_53951953insGACACCATGATTCCTGGTAACCGAATGCTGATGGTCGTTTTATTATGCCAAGTCCA2624918607BMP4c.270_271insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.195_196insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.81_82insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.411_412insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
 gnomAD v4
14g.53951953C>ACA389785215BMP4c.270G>T (p.Gln90His)
c.195G>T (p.Gln65His)
c.81G>T (p.Gln27His)
c.411G>T (p.Gln137His)
14g.53951953C>GCA389785216BMP4c.270G>C (p.Gln90His)
c.195G>C (p.Gln65His)
c.81G>C (p.Gln27His)
c.411G>C (p.Gln137His)
14g.53951953C>TCA486658666BMP4c.270G>A (p.Gln90=)
c.195G>A (p.Gln65=)
c.81G>A (p.Gln27=)
c.411G>A (p.Gln137=)
 gnomAD v4
14g.53951954T>ACA389785217BMP4c.269A>T (p.Gln90Leu)
c.194A>T (p.Gln65Leu)
c.80A>T (p.Gln27Leu)
c.410A>T (p.Gln137Leu)
14g.53951954T>CCA389785219BMP4c.269A>G (p.Gln90Arg)
c.194A>G (p.Gln65Arg)
c.80A>G (p.Gln27Arg)
c.410A>G (p.Gln137Arg)
 gnomAD v4
14g.53951954T>GCA389785218BMP4c.269A>C (p.Gln90Pro)
c.194A>C (p.Gln65Pro)
c.80A>C (p.Gln27Pro)
c.410A>C (p.Gln137Pro)
14g.53951955G>ACA261472781BMP4c.268C>T (p.Gln90Ter)
c.193C>T (p.Gln65Ter)
c.79C>T (p.Gln27Ter)
c.409C>T (p.Gln137Ter)
 dbSNP
14g.53951955G>CCA389785220BMP4c.268C>G (p.Gln90Glu)
c.193C>G (p.Gln65Glu)
c.79C>G (p.Gln27Glu)
c.409C>G (p.Gln137Glu)
14g.53951955G=CA2137819170BMP4c.268C= (p.Gln90=)
c.193C= (p.Gln65=)
c.79C= (p.Gln27=)
c.409C= (p.Gln137=)
14g.53951955G>TCA389785221BMP4c.268C>A (p.Gln90Lys)
c.193C>A (p.Gln65Lys)
c.79C>A (p.Gln27Lys)
c.409C>A (p.Gln137Lys)
14g.53951956A>CCA486658671BMP4c.267T>G (p.Leu89=)
c.192T>G (p.Leu64=)
c.78T>G (p.Leu26=)
c.408T>G (p.Leu136=)
14g.53951956A>GCA486658672BMP4c.267T>C (p.Leu89=)
c.192T>C (p.Leu64=)
c.78T>C (p.Leu26=)
c.408T>C (p.Leu136=)
14g.53951956A>TCA486658673BMP4c.267T>A (p.Leu89=)
c.192T>A (p.Leu64=)
c.78T>A (p.Leu26=)
c.408T>A (p.Leu136=)
14g.53951957delCA2624918608BMP4c.267del (p.Gln90SerfsTer28)
c.192del (p.Gln65SerfsTer28)
c.78del (p.Gln27SerfsTer28)
c.267del (p.Gln90SerfsTer?)
c.408del (p.Gln137SerfsTer28)
 gnomAD v4
14g.53951957A>CCA389785222BMP4c.266T>G (p.Leu89Arg)
c.191T>G (p.Leu64Arg)
c.77T>G (p.Leu26Arg)
c.407T>G (p.Leu136Arg)
14g.53951957A>GCA389785223BMP4c.266T>C (p.Leu89Pro)
c.191T>C (p.Leu64Pro)
c.77T>C (p.Leu26Pro)
c.407T>C (p.Leu136Pro)
14g.53951957A>TCA389785224BMP4c.266T>A (p.Leu89His)
c.191T>A (p.Leu64His)
c.77T>A (p.Leu26His)
c.407T>A (p.Leu136His)
14g.53951958G>ACA261472782BMP4c.265C>T (p.Leu89Phe)
c.190C>T (p.Leu64Phe)
c.76C>T (p.Leu26Phe)
c.406C>T (p.Leu136Phe)
 dbSNP gnomAD v3 gnomAD v4
14g.53951958G>CCA389785225BMP4c.265C>G (p.Leu89Val)
c.190C>G (p.Leu64Val)
c.76C>G (p.Leu26Val)
c.406C>G (p.Leu136Val)
14g.53951958G=CA2137819172BMP4c.265C= (p.Leu89=)
c.190C= (p.Leu64=)
c.76C= (p.Leu26=)
c.406C= (p.Leu136=)
14g.53951958G>TCA389785226BMP4c.265C>A (p.Leu89Ile)
c.190C>A (p.Leu64Ile)
c.76C>A (p.Leu26Ile)
c.406C>A (p.Leu136Ile)
14g.53951959C>ACA7191800BMP4c.264G>T (p.Arg88=)
c.189G>T (p.Arg63=)
c.75G>T (p.Arg25=)
c.405G>T (p.Arg135=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951959C=CA2137819176BMP4c.264G= (p.Arg88=)
c.189G= (p.Arg63=)
c.75G= (p.Arg25=)
c.405G= (p.Arg135=)
14g.53951959C>GCA486658679BMP4c.264G>C (p.Arg88=)
c.189G>C (p.Arg63=)
c.75G>C (p.Arg25=)
c.405G>C (p.Arg135=)
 dbSNP gnomAD v3 gnomAD v4
14g.53951959C>TCA7191801BMP4c.264G>A (p.Arg88=)
c.189G>A (p.Arg63=)
c.75G>A (p.Arg25=)
c.405G>A (p.Arg135=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951960C>ACA389785229BMP4c.263G>T (p.Arg88Leu)
c.188G>T (p.Arg63Leu)
c.74G>T (p.Arg25Leu)
c.404G>T (p.Arg135Leu)
14g.53951960C>GCA389785228BMP4c.263G>C (p.Arg88Pro)
c.188G>C (p.Arg63Pro)
c.74G>C (p.Arg25Pro)
c.404G>C (p.Arg135Pro)
14g.53951960C>TCA389785227BMP4c.263G>A (p.Arg88Gln)
c.188G>A (p.Arg63Gln)
c.74G>A (p.Arg25Gln)
c.404G>A (p.Arg135Gln)
 gnomAD v4
14g.53951961G>ACA389785231BMP4c.262C>T (p.Arg88Trp)
c.187C>T (p.Arg63Trp)
c.73C>T (p.Arg25Trp)
c.403C>T (p.Arg135Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951961G>CCA389785230BMP4c.262C>G (p.Arg88Gly)
c.187C>G (p.Arg63Gly)
c.73C>G (p.Arg25Gly)
c.403C>G (p.Arg135Gly)
14g.53951961G=CA2137819179BMP4c.262C= (p.Arg88=)
c.187C= (p.Arg63=)
c.73C= (p.Arg25=)
c.403C= (p.Arg135=)
14g.53951961G>TCA486658680BMP4c.262C>A (p.Arg88=)
c.187C>A (p.Arg63=)
c.73C>A (p.Arg25=)
c.403C>A (p.Arg135=)
14g.53951962G>ACA486658682BMP4c.261C>T (p.Tyr87=)
c.186C>T (p.Tyr62=)
c.72C>T (p.Tyr24=)
c.402C>T (p.Tyr134=)
 gnomAD v4
14g.53951962G>CCA389785232BMP4c.261C>G (p.Tyr87Ter)
c.186C>G (p.Tyr62Ter)
c.72C>G (p.Tyr24Ter)
c.402C>G (p.Tyr134Ter)
14g.53951962G>TCA389785233BMP4c.261C>A (p.Tyr87Ter)
c.186C>A (p.Tyr62Ter)
c.72C>A (p.Tyr24Ter)
c.402C>A (p.Tyr134Ter)
14g.53951963T>ACA7191802BMP4c.260A>T (p.Tyr87Phe)
c.185A>T (p.Tyr62Phe)
c.71A>T (p.Tyr24Phe)
c.401A>T (p.Tyr134Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951963T>CCA389785234BMP4c.260A>G (p.Tyr87Cys)
c.185A>G (p.Tyr62Cys)
c.71A>G (p.Tyr24Cys)
c.401A>G (p.Tyr134Cys)
14g.53951963T>GCA389785235BMP4c.260A>C (p.Tyr87Ser)
c.185A>C (p.Tyr62Ser)
c.71A>C (p.Tyr24Ser)
c.401A>C (p.Tyr134Ser)
14g.53951963T=CA2137819183BMP4c.260A= (p.Tyr87=)
c.185A= (p.Tyr62=)
c.71A= (p.Tyr24=)
c.401A= (p.Tyr134=)
14g.53951964A=CA2137819187BMP4c.259T= (p.Tyr87=)
c.184T= (p.Tyr62=)
c.70T= (p.Tyr24=)
c.400T= (p.Tyr134=)
14g.53951964A>CCA389785236BMP4c.259T>G (p.Tyr87Asp)
c.184T>G (p.Tyr62Asp)
c.70T>G (p.Tyr24Asp)
c.400T>G (p.Tyr134Asp)
14g.53951964A>GCA389785237BMP4c.259T>C (p.Tyr87His)
c.184T>C (p.Tyr62His)
c.70T>C (p.Tyr24His)
c.400T>C (p.Tyr134His)
 dbSNP
14g.53951964A>TCA389785238BMP4c.259T>A (p.Tyr87Asn)
c.184T>A (p.Tyr62Asn)
c.70T>A (p.Tyr24Asn)
c.400T>A (p.Tyr134Asn)
14g.53951965A>CCA486658686BMP4c.258T>G (p.Leu86=)
c.183T>G (p.Leu61=)
c.69T>G (p.Leu23=)
c.399T>G (p.Leu133=)
14g.53951965A>GCA486658688BMP4c.258T>C (p.Leu86=)
c.183T>C (p.Leu61=)
c.69T>C (p.Leu23=)
c.399T>C (p.Leu133=)
14g.53951965A>TCA486658687BMP4c.258T>A (p.Leu86=)
c.183T>A (p.Leu61=)
c.69T>A (p.Leu23=)
c.399T>A (p.Leu133=)
14g.53951966A>CCA389785239BMP4c.257T>G (p.Leu86Arg)
c.182T>G (p.Leu61Arg)
c.68T>G (p.Leu23Arg)
c.398T>G (p.Leu133Arg)
14g.53951966A>GCA389785240BMP4c.257T>C (p.Leu86Pro)
c.182T>C (p.Leu61Pro)
c.68T>C (p.Leu23Pro)
c.398T>C (p.Leu133Pro)
14g.53951966A>TCA389785241BMP4c.257T>A (p.Leu86His)
c.182T>A (p.Leu61His)
c.68T>A (p.Leu23His)
c.398T>A (p.Leu133His)
14g.53951967G>ACA389785242BMP4c.256C>T (p.Leu86Phe)
c.181C>T (p.Leu61Phe)
c.67C>T (p.Leu23Phe)
c.397C>T (p.Leu133Phe)
14g.53951967G>CCA389785243BMP4c.256C>G (p.Leu86Val)
c.181C>G (p.Leu61Val)
c.67C>G (p.Leu23Val)
c.397C>G (p.Leu133Val)
14g.53951967G=CA2137819192BMP4c.256C= (p.Leu86=)
c.181C= (p.Leu61=)
c.67C= (p.Leu23=)
c.397C= (p.Leu133=)
14g.53951967G>TCA7191803BMP4c.256C>A (p.Leu86Ile)
c.181C>A (p.Leu61Ile)
c.67C>A (p.Leu23Ile)
c.397C>A (p.Leu133Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951968A>CCA389785244BMP4c.255T>G (p.Asp85Glu)
c.180T>G (p.Asp60Glu)
c.66T>G (p.Asp22Glu)
c.396T>G (p.Asp132Glu)
14g.53951968A>GCA486658693BMP4c.255T>C (p.Asp85=)
c.180T>C (p.Asp60=)
c.66T>C (p.Asp22=)
c.396T>C (p.Asp132=)
 gnomAD v4
14g.53951968A>TCA389785245BMP4c.255T>A (p.Asp85Glu)
c.180T>A (p.Asp60Glu)
c.66T>A (p.Asp22Glu)
c.396T>A (p.Asp132Glu)
14g.53951969T>ACA389785246BMP4c.254A>T (p.Asp85Val)
c.179A>T (p.Asp60Val)
c.65A>T (p.Asp22Val)
c.395A>T (p.Asp132Val)
 dbSNP
14g.53951969T>CCA389785247BMP4c.254A>G (p.Asp85Gly)
c.179A>G (p.Asp60Gly)
c.65A>G (p.Asp22Gly)
c.395A>G (p.Asp132Gly)
 gnomAD v4
14g.53951969T>GCA389785248BMP4c.254A>C (p.Asp85Ala)
c.179A>C (p.Asp60Ala)
c.65A>C (p.Asp22Ala)
c.395A>C (p.Asp132Ala)
14g.53951970C>ACA389785251BMP4c.253G>T (p.Asp85Tyr)
c.178G>T (p.Asp60Tyr)
c.64G>T (p.Asp22Tyr)
c.394G>T (p.Asp132Tyr)
 gnomAD v4
14g.53951970C>GCA389785249BMP4c.253G>C (p.Asp85His)
c.178G>C (p.Asp60His)
c.64G>C (p.Asp22His)
c.394G>C (p.Asp132His)
14g.53951970C>TCA389785250BMP4c.253G>A (p.Asp85Asn)
c.178G>A (p.Asp60Asn)
c.64G>A (p.Asp22Asn)
c.394G>A (p.Asp132Asn)
14g.53951971C>ACA486658696BMP4c.252G>T (p.Arg84=)
c.177G>T (p.Arg59=)
c.63G>T (p.Arg21=)
c.393G>T (p.Arg131=)
 gnomAD v4
14g.53951971C=CA2137819197BMP4c.252G= (p.Arg84=)
c.177G= (p.Arg59=)
c.63G= (p.Arg21=)
c.393G= (p.Arg131=)
14g.53951971C>GCA486658698BMP4c.252G>C (p.Arg84=)
c.177G>C (p.Arg59=)
c.63G>C (p.Arg21=)
c.393G>C (p.Arg131=)
14g.53951971C>TCA7191804BMP4c.252G>A (p.Arg84=)
c.177G>A (p.Arg59=)
c.63G>A (p.Arg21=)
c.393G>A (p.Arg131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951972C>ACA389785252BMP4c.251G>T (p.Arg84Leu)
c.176G>T (p.Arg59Leu)
c.62G>T (p.Arg21Leu)
c.392G>T (p.Arg131Leu)
 COSMIC
14g.53951972C>GCA389785253BMP4c.251G>C (p.Arg84Pro)
c.176G>C (p.Arg59Pro)
c.62G>C (p.Arg21Pro)
c.392G>C (p.Arg131Pro)
14g.53951972C>TCA389785254BMP4c.251G>A (p.Arg84Gln)
c.176G>A (p.Arg59Gln)
c.62G>A (p.Arg21Gln)
c.392G>A (p.Arg131Gln)
 ClinVar
14g.53951973G>ACA389785255BMP4c.250C>T (p.Arg84Trp)
c.175C>T (p.Arg59Trp)
c.61C>T (p.Arg21Trp)
c.391C>T (p.Arg131Trp)
 ClinVar dbSNP gnomAD v4
14g.53951973G>CCA389785256BMP4c.250C>G (p.Arg84Gly)
c.175C>G (p.Arg59Gly)
c.61C>G (p.Arg21Gly)
c.391C>G (p.Arg131Gly)
14g.53951973G=CA2137819203BMP4c.250C= (p.Arg84=)
c.175C= (p.Arg59=)
c.61C= (p.Arg21=)
c.391C= (p.Arg131=)
14g.53951973G>TCA486658700BMP4c.250C>A (p.Arg84=)
c.175C>A (p.Arg59=)
c.61C>A (p.Arg21=)
c.391C>A (p.Arg131=)
 dbSNP gnomAD v4
14g.53951974C>ACA389785258BMP4c.249G>T (p.Met83Ile)
c.174G>T (p.Met58Ile)
c.60G>T (p.Met20Ile)
c.390G>T (p.Met130Ile)
14g.53951974C>GCA389785259BMP4c.249G>C (p.Met83Ile)
c.174G>C (p.Met58Ile)
c.60G>C (p.Met20Ile)
c.390G>C (p.Met130Ile)
14g.53951974C>TCA389785257BMP4c.249G>A (p.Met83Ile)
c.174G>A (p.Met58Ile)
c.60G>A (p.Met20Ile)
c.390G>A (p.Met130Ile)
14g.53951974_53951991dupCA614278115BMP4c.232_249dup (p.Met83_Arg84insValIleProAspTyrMet)
c.157_174dup (p.Met58_Arg59insValIleProAspTyrMet)
c.43_60dup (p.Met20_Arg21insValIleProAspTyrMet)
c.373_390dup (p.Met130_Arg131insValIleProAspTyrMet)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951975A>CCA389785260BMP4c.248T>G (p.Met83Arg)
c.173T>G (p.Met58Arg)
c.59T>G (p.Met20Arg)
c.389T>G (p.Met130Arg)
14g.53951975A>GCA389785261BMP4c.248T>C (p.Met83Thr)
c.173T>C (p.Met58Thr)
c.59T>C (p.Met20Thr)
c.389T>C (p.Met130Thr)
14g.53951975A>TCA389785262BMP4c.248T>A (p.Met83Lys)
c.173T>A (p.Met58Lys)
c.59T>A (p.Met20Lys)
c.389T>A (p.Met130Lys)
14g.53951976T>ACA389785263BMP4c.247A>T (p.Met83Leu)
c.172A>T (p.Met58Leu)
c.58A>T (p.Met20Leu)
c.388A>T (p.Met130Leu)
14g.53951976T>CCA389785264BMP4c.247A>G (p.Met83Val)
c.172A>G (p.Met58Val)
c.58A>G (p.Met20Val)
c.388A>G (p.Met130Val)
 gnomAD v4
14g.53951976T>GCA389785265BMP4c.247A>C (p.Met83Leu)
c.172A>C (p.Met58Leu)
c.58A>C (p.Met20Leu)
c.388A>C (p.Met130Leu)
 dbSNP gnomAD v4
14g.53951976T=CA2137819209BMP4c.247A= (p.Met83=)
c.172A= (p.Met58=)
c.58A= (p.Met20=)
c.388A= (p.Met130=)
14g.53951977G>ACA486658701BMP4c.246C>T (p.Tyr82=)
c.171C>T (p.Tyr57=)
c.57C>T (p.Tyr19=)
c.387C>T (p.Tyr129=)
14g.53951977G>CCA389785266BMP4c.246C>G (p.Tyr82Ter)
c.171C>G (p.Tyr57Ter)
c.57C>G (p.Tyr19Ter)
c.387C>G (p.Tyr129Ter)
14g.53951977G>TCA389785267BMP4c.246C>A (p.Tyr82Ter)
c.171C>A (p.Tyr57Ter)
c.57C>A (p.Tyr19Ter)
c.387C>A (p.Tyr129Ter)
14g.53951978T>ACA389785268BMP4c.245A>T (p.Tyr82Phe)
c.170A>T (p.Tyr57Phe)
c.56A>T (p.Tyr19Phe)
c.386A>T (p.Tyr129Phe)
14g.53951978T>CCA389785269BMP4c.245A>G (p.Tyr82Cys)
c.170A>G (p.Tyr57Cys)
c.56A>G (p.Tyr19Cys)
c.386A>G (p.Tyr129Cys)
14g.53951978T>GCA389785270BMP4c.245A>C (p.Tyr82Ser)
c.170A>C (p.Tyr57Ser)
c.56A>C (p.Tyr19Ser)
c.386A>C (p.Tyr129Ser)
14g.53951979A=CA2137819213BMP4c.244T= (p.Tyr82=)
c.169T= (p.Tyr57=)
c.55T= (p.Tyr19=)
c.385T= (p.Tyr129=)
14g.53951979A>CCA389785271BMP4c.244T>G (p.Tyr82Asp)
c.169T>G (p.Tyr57Asp)
c.55T>G (p.Tyr19Asp)
c.385T>G (p.Tyr129Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.53951979A>GCA389785272BMP4c.244T>C (p.Tyr82His)
c.169T>C (p.Tyr57His)
c.55T>C (p.Tyr19His)
c.385T>C (p.Tyr129His)
 dbSNP gnomAD v2
14g.53951979A>TCA389785273BMP4c.244T>A (p.Tyr82Asn)
c.169T>A (p.Tyr57Asn)
c.55T>A (p.Tyr19Asn)
c.385T>A (p.Tyr129Asn)
14g.53951980G>ACA486658704BMP4c.243C>T (p.Asp81=)
c.168C>T (p.Asp56=)
c.54C>T (p.Asp18=)
c.384C>T (p.Asp128=)
14g.53951980G>CCA389785275BMP4c.243C>G (p.Asp81Glu)
c.168C>G (p.Asp56Glu)
c.54C>G (p.Asp18Glu)
c.384C>G (p.Asp128Glu)
14g.53951980G>TCA389785274BMP4c.243C>A (p.Asp81Glu)
c.168C>A (p.Asp56Glu)
c.54C>A (p.Asp18Glu)
c.384C>A (p.Asp128Glu)
14g.53951981T>ACA389785276BMP4c.242A>T (p.Asp81Val)
c.167A>T (p.Asp56Val)
c.53A>T (p.Asp18Val)
c.383A>T (p.Asp128Val)
14g.53951981T>CCA389785277BMP4c.242A>G (p.Asp81Gly)
c.167A>G (p.Asp56Gly)
c.53A>G (p.Asp18Gly)
c.383A>G (p.Asp128Gly)
14g.53951981T>GCA389785278BMP4c.242A>C (p.Asp81Ala)
c.167A>C (p.Asp56Ala)
c.53A>C (p.Asp18Ala)
c.383A>C (p.Asp128Ala)
14g.53951982C>ACA389785279BMP4c.241G>T (p.Asp81Tyr)
c.166G>T (p.Asp56Tyr)
c.52G>T (p.Asp18Tyr)
c.382G>T (p.Asp128Tyr)
 gnomAD v4
14g.53951982C>GCA389785280BMP4c.241G>C (p.Asp81His)
c.166G>C (p.Asp56His)
c.52G>C (p.Asp18His)
c.382G>C (p.Asp128His)
14g.53951982C>TCA389785281BMP4c.241G>A (p.Asp81Asn)
c.166G>A (p.Asp56Asn)
c.52G>A (p.Asp18Asn)
c.382G>A (p.Asp128Asn)
14g.53951983C>ACA486658706BMP4c.240G>T (p.Pro80=)
c.165G>T (p.Pro55=)
c.51G>T (p.Pro17=)
c.381G>T (p.Pro127=)
 ClinVar dbSNP gnomAD v4
14g.53951983C=CA2137819218BMP4c.240G= (p.Pro80=)
c.165G= (p.Pro55=)
c.51G= (p.Pro17=)
c.381G= (p.Pro127=)
14g.53951983C>GCA486658708BMP4c.240G>C (p.Pro80=)
c.165G>C (p.Pro55=)
c.51G>C (p.Pro17=)
c.381G>C (p.Pro127=)
14g.53951983C>TCA7191805BMP4c.240G>A (p.Pro80=)
c.165G>A (p.Pro55=)
c.51G>A (p.Pro17=)
c.381G>A (p.Pro127=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951984G>ACA261472783BMP4c.239C>T (p.Pro80Leu)
c.164C>T (p.Pro55Leu)
c.50C>T (p.Pro17Leu)
c.380C>T (p.Pro127Leu)
 dbSNP
14g.53951984G>CCA389785283BMP4c.239C>G (p.Pro80Arg)
c.164C>G (p.Pro55Arg)
c.50C>G (p.Pro17Arg)
c.380C>G (p.Pro127Arg)
14g.53951984G=CA2137819222BMP4c.239C= (p.Pro80=)
c.164C= (p.Pro55=)
c.50C= (p.Pro17=)
c.380C= (p.Pro127=)
14g.53951984G>TCA389785282BMP4c.239C>A (p.Pro80Gln)
c.164C>A (p.Pro55Gln)
c.50C>A (p.Pro17Gln)
c.380C>A (p.Pro127Gln)
14g.53951985G>ACA389785284BMP4c.238C>T (p.Pro80Ser)
c.163C>T (p.Pro55Ser)
c.49C>T (p.Pro17Ser)
c.379C>T (p.Pro127Ser)
14g.53951985G>CCA389785285BMP4c.238C>G (p.Pro80Ala)
c.163C>G (p.Pro55Ala)
c.49C>G (p.Pro17Ala)
c.379C>G (p.Pro127Ala)
14g.53951985G>TCA389785286BMP4c.238C>A (p.Pro80Thr)
c.163C>A (p.Pro55Thr)
c.49C>A (p.Pro17Thr)
c.379C>A (p.Pro127Thr)
14g.53951986A>CCA389785287BMP4c.237T>G (p.Ile79Met)
c.162T>G (p.Ile54Met)
c.48T>G (p.Ile16Met)
c.378T>G (p.Ile126Met)
14g.53951986A>GCA486658712BMP4c.237T>C (p.Ile79=)
c.162T>C (p.Ile54=)
c.48T>C (p.Ile16=)
c.378T>C (p.Ile126=)
 gnomAD v4
14g.53951986A>TCA486658711BMP4c.237T>A (p.Ile79=)
c.162T>A (p.Ile54=)
c.48T>A (p.Ile16=)
c.378T>A (p.Ile126=)
 gnomAD v4
14g.53951987A>CCA389785288BMP4c.236T>G (p.Ile79Ser)
c.161T>G (p.Ile54Ser)
c.47T>G (p.Ile16Ser)
c.377T>G (p.Ile126Ser)
14g.53951987A>GCA389785290BMP4c.236T>C (p.Ile79Thr)
c.161T>C (p.Ile54Thr)
c.47T>C (p.Ile16Thr)
c.377T>C (p.Ile126Thr)
14g.53951987A>TCA389785289BMP4c.236T>A (p.Ile79Asn)
c.161T>A (p.Ile54Asn)
c.47T>A (p.Ile16Asn)
c.377T>A (p.Ile126Asn)
14g.53951988T>ACA389785291BMP4c.235A>T (p.Ile79Phe)
c.160A>T (p.Ile54Phe)
c.46A>T (p.Ile16Phe)
c.376A>T (p.Ile126Phe)
14g.53951988T>CCA389785292BMP4c.235A>G (p.Ile79Val)
c.160A>G (p.Ile54Val)
c.46A>G (p.Ile16Val)
c.376A>G (p.Ile126Val)
 dbSNP
14g.53951988T>GCA389785293BMP4c.235A>C (p.Ile79Leu)
c.160A>C (p.Ile54Leu)
c.46A>C (p.Ile16Leu)
c.376A>C (p.Ile126Leu)
14g.53951988T=CA2137819225BMP4c.235A= (p.Ile79=)
c.160A= (p.Ile54=)
c.46A= (p.Ile16=)
c.376A= (p.Ile126=)
14g.53951989G>ACA486658719BMP4c.234C>T (p.Val78=)
c.159C>T (p.Val53=)
c.45C>T (p.Val15=)
c.375C>T (p.Val125=)
14g.53951989G>CCA486658720BMP4c.234C>G (p.Val78=)
c.159C>G (p.Val53=)
c.45C>G (p.Val15=)
c.375C>G (p.Val125=)
14g.53951989G>TCA486658721BMP4c.234C>A (p.Val78=)
c.159C>A (p.Val53=)
c.45C>A (p.Val15=)
c.375C>A (p.Val125=)
14g.53951990A>CCA389785294BMP4c.233T>G (p.Val78Gly)
c.158T>G (p.Val53Gly)
c.44T>G (p.Val15Gly)
c.374T>G (p.Val125Gly)
14g.53951990A>GCA389785295BMP4c.233T>C (p.Val78Ala)
c.158T>C (p.Val53Ala)
c.44T>C (p.Val15Ala)
c.374T>C (p.Val125Ala)
 gnomAD v4
14g.53951990A>TCA389785296BMP4c.233T>A (p.Val78Asp)
c.158T>A (p.Val53Asp)
c.44T>A (p.Val15Asp)
c.374T>A (p.Val125Asp)
14g.53951991C>ACA389785297BMP4c.232G>T (p.Val78Phe)
c.157G>T (p.Val53Phe)
c.43G>T (p.Val15Phe)
c.373G>T (p.Val125Phe)
14g.53951991C>GCA389785298BMP4c.232G>C (p.Val78Leu)
c.157G>C (p.Val53Leu)
c.43G>C (p.Val15Leu)
c.373G>C (p.Val125Leu)
 gnomAD v3 gnomAD v4
14g.53951991C>TCA389785299BMP4c.232G>A (p.Val78Ile)
c.157G>A (p.Val53Ile)
c.43G>A (p.Val15Ile)
c.373G>A (p.Val125Ile)
 dbSNP gnomAD v4 COSMIC
14g.53951992G>ACA486658724BMP4c.231C>T (p.Ala77=)
c.156C>T (p.Ala52=)
c.42C>T (p.Ala14=)
c.372C>T (p.Ala124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951992G>CCA486658727BMP4c.231C>G (p.Ala77=)
c.156C>G (p.Ala52=)
c.42C>G (p.Ala14=)
c.372C>G (p.Ala124=)
 dbSNP gnomAD v2 gnomAD v4
14g.53951992G=CA2137819227BMP4c.231C= (p.Ala77=)
c.156C= (p.Ala52=)
c.42C= (p.Ala14=)
c.372C= (p.Ala124=)
14g.53951992G>TCA486658725BMP4c.231C>A (p.Ala77=)
c.156C>A (p.Ala52=)
c.42C>A (p.Ala14=)
c.372C>A (p.Ala124=)
 dbSNP
14g.53951993G>ACA389785300BMP4c.230C>T (p.Ala77Val)
c.155C>T (p.Ala52Val)
c.41C>T (p.Ala14Val)
c.371C>T (p.Ala124Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53951993G>CCA389785301BMP4c.230C>G (p.Ala77Gly)
c.155C>G (p.Ala52Gly)
c.41C>G (p.Ala14Gly)
c.371C>G (p.Ala124Gly)
14g.53951993G=CA2137819228BMP4c.230C= (p.Ala77=)
c.155C= (p.Ala52=)
c.41C= (p.Ala14=)
c.371C= (p.Ala124=)
14g.53951993G>TCA389785302BMP4c.230C>A (p.Ala77Asp)
c.155C>A (p.Ala52Asp)
c.41C>A (p.Ala14Asp)
c.371C>A (p.Ala124Asp)
14g.53951994C>ACA389785305BMP4c.229G>T (p.Ala77Ser)
c.154G>T (p.Ala52Ser)
c.40G>T (p.Ala14Ser)
c.370G>T (p.Ala124Ser)
14g.53951994C>GCA389785304BMP4c.229G>C (p.Ala77Pro)
c.154G>C (p.Ala52Pro)
c.40G>C (p.Ala14Pro)
c.370G>C (p.Ala124Pro)
14g.53951994C>TCA389785303BMP4c.229G>A (p.Ala77Thr)
c.154G>A (p.Ala52Thr)
c.40G>A (p.Ala14Thr)
c.370G>A (p.Ala124Thr)
 gnomAD v4
14g.53951995A=CA2137819232BMP4c.228T= (p.Ser76=)
c.153T= (p.Ser51=)
c.39T= (p.Ser13=)
c.369T= (p.Ser123=)
14g.53951995A>CCA389785306BMP4c.228T>G (p.Ser76Arg)
c.153T>G (p.Ser51Arg)
c.39T>G (p.Ser13Arg)
c.369T>G (p.Ser123Arg)
14g.53951995A>GCA486658731BMP4c.228T>C (p.Ser76=)
c.153T>C (p.Ser51=)
c.39T>C (p.Ser13=)
c.369T>C (p.Ser123=)
14g.53951995A>TCA7191806BMP4c.228T>A (p.Ser76Arg)
c.153T>A (p.Ser51Arg)
c.39T>A (p.Ser13Arg)
c.369T>A (p.Ser123Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951996C>ACA389785307BMP4c.227G>T (p.Ser76Ile)
c.152G>T (p.Ser51Ile)
c.38G>T (p.Ser13Ile)
c.368G>T (p.Ser123Ile)
 gnomAD v4
14g.53951996C=CA2137819240BMP4c.227G= (p.Ser76=)
c.152G= (p.Ser51=)
c.38G= (p.Ser13=)
c.368G= (p.Ser123=)
14g.53951996C>GCA389785308BMP4c.227G>C (p.Ser76Thr)
c.152G>C (p.Ser51Thr)
c.38G>C (p.Ser13Thr)
c.368G>C (p.Ser123Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.53951996C>TCA389785309BMP4c.227G>A (p.Ser76Asn)
c.152G>A (p.Ser51Asn)
c.38G>A (p.Ser13Asn)
c.368G>A (p.Ser123Asn)
 gnomAD v4
14g.53951998_53951999delCA2580613688BMP4c.226_227del (p.Ser76CysfsTer29)
c.151_152del (p.Ser51CysfsTer29)
c.37_38del (p.Ser13CysfsTer29)
c.367_368del (p.Ser123CysfsTer29)
 ClinVar dbSNP
14g.53951997T>ACA389785310BMP4c.226A>T (p.Ser76Cys)
c.151A>T (p.Ser51Cys)
c.37A>T (p.Ser13Cys)
c.367A>T (p.Ser123Cys)
14g.53951997T>CCA389785311BMP4c.226A>G (p.Ser76Gly)
c.151A>G (p.Ser51Gly)
c.37A>G (p.Ser13Gly)
c.367A>G (p.Ser123Gly)
 gnomAD v4
14g.53951997T>GCA389785312BMP4c.226A>C (p.Ser76Arg)
c.151A>C (p.Ser51Arg)
c.37A>C (p.Ser13Arg)
c.367A>C (p.Ser123Arg)
14g.53951998C>ACA389785313BMP4c.225G>T (p.Lys75Asn)
c.150G>T (p.Lys50Asn)
c.36G>T (p.Lys12Asn)
c.366G>T (p.Lys122Asn)
14g.53951998C=CA2137819243BMP4c.225G= (p.Lys75=)
c.150G= (p.Lys50=)
c.36G= (p.Lys12=)
c.366G= (p.Lys122=)
14g.53951998C>GCA389785314BMP4c.225G>C (p.Lys75Asn)
c.150G>C (p.Lys50Asn)
c.36G>C (p.Lys12Asn)
c.366G>C (p.Lys122Asn)
14g.53951998C>TCA486658738BMP4c.225G>A (p.Lys75=)
c.150G>A (p.Lys50=)
c.36G>A (p.Lys12=)
c.366G>A (p.Lys122=)
 dbSNP gnomAD v3 gnomAD v4
14g.53951999T>ACA389785315BMP4c.224A>T (p.Lys75Met)
c.149A>T (p.Lys50Met)
c.35A>T (p.Lys12Met)
c.365A>T (p.Lys122Met)
14g.53951999T>CCA7191807BMP4c.224A>G (p.Lys75Arg)
c.149A>G (p.Lys50Arg)
c.35A>G (p.Lys12Arg)
c.365A>G (p.Lys122Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951999T>GCA389785316BMP4c.224A>C (p.Lys75Thr)
c.149A>C (p.Lys50Thr)
c.35A>C (p.Lys12Thr)
c.365A>C (p.Lys122Thr)
14g.53951999T=CA2137819247BMP4c.224A= (p.Lys75=)
c.149A= (p.Lys50=)
c.35A= (p.Lys12=)
c.365A= (p.Lys122=)
14g.53952000T>ACA389785319BMP4c.223A>T (p.Lys75Ter)
c.148A>T (p.Lys50Ter)
c.34A>T (p.Lys12Ter)
c.364A>T (p.Lys122Ter)
14g.53952000T>CCA389785318BMP4c.223A>G (p.Lys75Glu)
c.148A>G (p.Lys50Glu)
c.34A>G (p.Lys12Glu)
c.364A>G (p.Lys122Glu)
 gnomAD v4
14g.53952000T>GCA389785317BMP4c.223A>C (p.Lys75Gln)
c.148A>C (p.Lys50Gln)
c.34A>C (p.Lys12Gln)
c.364A>C (p.Lys122Gln)
14g.53952001G>ACA486658746BMP4c.222C>T (p.Ser74=)
c.147C>T (p.Ser49=)
c.33C>T (p.Ser11=)
c.363C>T (p.Ser121=)
 dbSNP gnomAD v3 gnomAD v4
14g.53952001G>CCA389785321BMP4c.222C>G (p.Ser74Arg)
c.147C>G (p.Ser49Arg)
c.33C>G (p.Ser11Arg)
c.363C>G (p.Ser121Arg)
14g.53952001G=CA2137819253BMP4c.222C= (p.Ser74=)
c.147C= (p.Ser49=)
c.33C= (p.Ser11=)
c.363C= (p.Ser121=)
14g.53952001G>TCA389785320BMP4c.222C>A (p.Ser74Arg)
c.147C>A (p.Ser49Arg)
c.33C>A (p.Ser11Arg)
c.363C>A (p.Ser121Arg)
14g.53952002C>ACA389785322BMP4c.221G>T (p.Ser74Ile)
c.146G>T (p.Ser49Ile)
c.32G>T (p.Ser11Ile)
c.362G>T (p.Ser121Ile)
14g.53952002C=CA2137819257BMP4c.221G= (p.Ser74=)
c.146G= (p.Ser49=)
c.32G= (p.Ser11=)
c.362G= (p.Ser121=)
14g.53952002C>GCA389785323BMP4c.221G>C (p.Ser74Thr)
c.146G>C (p.Ser49Thr)
c.32G>C (p.Ser11Thr)
c.362G>C (p.Ser121Thr)
 dbSNP
14g.53952002C>TCA389785324BMP4c.221G>A (p.Ser74Asn)
c.146G>A (p.Ser49Asn)
c.32G>A (p.Ser11Asn)
c.362G>A (p.Ser121Asn)
 COSMIC
14g.53952003T>ACA389785325BMP4c.220A>T (p.Ser74Cys)
c.145A>T (p.Ser49Cys)
c.31A>T (p.Ser11Cys)
c.361A>T (p.Ser121Cys)
14g.53952003T>CCA261472784BMP4c.220A>G (p.Ser74Gly)
c.145A>G (p.Ser49Gly)
c.31A>G (p.Ser11Gly)
c.361A>G (p.Ser121Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.53952003T>GCA389785326BMP4c.220A>C (p.Ser74Arg)
c.145A>C (p.Ser49Arg)
c.31A>C (p.Ser11Arg)
c.361A>C (p.Ser121Arg)
14g.53952003T=CA2137819264BMP4c.220A= (p.Ser74=)
c.145A= (p.Ser49=)
c.31A= (p.Ser11=)
c.361A= (p.Ser121=)
14g.53952004A=CA2137819267BMP4c.219T= (p.Pro73=)
c.144T= (p.Pro48=)
c.30T= (p.Pro10=)
c.360T= (p.Pro120=)
14g.53952004A>CCA486658749BMP4c.219T>G (p.Pro73=)
c.144T>G (p.Pro48=)
c.30T>G (p.Pro10=)
c.360T>G (p.Pro120=)
14g.53952004A>GCA7191808BMP4c.219T>C (p.Pro73=)
c.144T>C (p.Pro48=)
c.30T>C (p.Pro10=)
c.360T>C (p.Pro120=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952004A>TCA486658751BMP4c.219T>A (p.Pro73=)
c.144T>A (p.Pro48=)
c.30T>A (p.Pro10=)
c.360T>A (p.Pro120=)
14g.53952005G>ACA389785327BMP4c.218C>T (p.Pro73Leu)
c.143C>T (p.Pro48Leu)
c.29C>T (p.Pro10Leu)
c.359C>T (p.Pro120Leu)
 COSMIC
14g.53952005G>CCA389785328BMP4c.218C>G (p.Pro73Arg)
c.143C>G (p.Pro48Arg)
c.29C>G (p.Pro10Arg)
c.359C>G (p.Pro120Arg)
14g.53952005G=CA2137819269BMP4c.218C= (p.Pro73=)
c.143C= (p.Pro48=)
c.29C= (p.Pro10=)
c.359C= (p.Pro120=)
14g.53952005G>TCA389785329BMP4c.218C>A (p.Pro73His)
c.143C>A (p.Pro48His)
c.29C>A (p.Pro10His)
c.359C>A (p.Pro120His)
 COSMIC
14g.53952006G>ACA389785330BMP4c.217C>T (p.Pro73Ser)
c.142C>T (p.Pro48Ser)
c.28C>T (p.Pro10Ser)
c.358C>T (p.Pro120Ser)
14g.53952006G>CCA389785331BMP4c.217C>G (p.Pro73Ala)
c.142C>G (p.Pro48Ala)
c.28C>G (p.Pro10Ala)
c.358C>G (p.Pro120Ala)
14g.53952006G>TCA389785332BMP4c.217C>A (p.Pro73Thr)
c.142C>A (p.Pro48Thr)
c.28C>A (p.Pro10Thr)
c.358C>A (p.Pro120Thr)
14g.53952008_53952010dupCA614278116BMP4c.215_217dup (p.Gln72_Pro73insGln)
c.140_142dup (p.Gln47_Pro48insGln)
c.26_28dup (p.Gln9_Pro10insGln)
c.356_358dup (p.Gln119_Pro120insGln)
 dbSNP gnomAD v2 gnomAD v4
14g.53952007C>ACA389785334BMP4c.216G>T (p.Gln72His)
c.141G>T (p.Gln47His)
c.27G>T (p.Gln9His)
c.357G>T (p.Gln119His)
14g.53952007C>GCA389785333BMP4c.216G>C (p.Gln72His)
c.141G>C (p.Gln47His)
c.27G>C (p.Gln9His)
c.357G>C (p.Gln119His)
14g.53952007C>TCA486658757BMP4c.216G>A (p.Gln72=)
c.141G>A (p.Gln47=)
c.27G>A (p.Gln9=)
c.357G>A (p.Gln119=)
 gnomAD v4
14g.53952008T>ACA389785335BMP4c.215A>T (p.Gln72Leu)
c.140A>T (p.Gln47Leu)
c.26A>T (p.Gln9Leu)
c.356A>T (p.Gln119Leu)
 gnomAD v4
14g.53952008T>CCA7191809BMP4c.215A>G (p.Gln72Arg)
c.140A>G (p.Gln47Arg)
c.26A>G (p.Gln9Arg)
c.356A>G (p.Gln119Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952008T>GCA389785336BMP4c.215A>C (p.Gln72Pro)
c.140A>C (p.Gln47Pro)
c.26A>C (p.Gln9Pro)
c.356A>C (p.Gln119Pro)
14g.53952008T=CA2137819274BMP4c.215A= (p.Gln72=)
c.140A= (p.Gln47=)
c.26A= (p.Gln9=)
c.356A= (p.Gln119=)
14g.53952009G>ACA389785337BMP4c.214C>T (p.Gln72Ter)
c.139C>T (p.Gln47Ter)
c.25C>T (p.Gln9Ter)
c.355C>T (p.Gln119Ter)
14g.53952009G>CCA389785338BMP4c.214C>G (p.Gln72Glu)
c.139C>G (p.Gln47Glu)
c.25C>G (p.Gln9Glu)
c.355C>G (p.Gln119Glu)
 gnomAD v4
14g.53952009G>TCA389785339BMP4c.214C>A (p.Gln72Lys)
c.139C>A (p.Gln47Lys)
c.25C>A (p.Gln9Lys)
c.355C>A (p.Gln119Lys)
14g.53952012_53952021delCA2573149957BMP4c.205_214del (p.Arg69SerfsTer?)
c.130_139del (p.Arg44SerfsTer?)
c.16_25del (p.Arg6SerfsTer?)
c.346_355del (p.Arg116SerfsTer?)
 ClinVar dbSNP
14g.53952010C>ACA7191810BMP4c.213G>T (p.Pro71=)
c.138G>T (p.Pro46=)
c.24G>T (p.Pro8=)
c.354G>T (p.Pro118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952010C=CA2137819284BMP4c.213G= (p.Pro71=)
c.138G= (p.Pro46=)
c.24G= (p.Pro8=)
c.354G= (p.Pro118=)
14g.53952010C>GCA7191811BMP4c.213G>C (p.Pro71=)
c.138G>C (p.Pro46=)
c.24G>C (p.Pro8=)
c.354G>C (p.Pro118=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952010C>TCA486658760BMP4c.213G>A (p.Pro71=)
c.138G>A (p.Pro46=)
c.24G>A (p.Pro8=)
c.354G>A (p.Pro118=)
 dbSNP gnomAD v2 gnomAD v4
14g.53952011G>ACA389785340BMP4c.212C>T (p.Pro71Leu)
c.137C>T (p.Pro46Leu)
c.23C>T (p.Pro8Leu)
c.353C>T (p.Pro118Leu)
 gnomAD v4
14g.53952011G>CCA7191812BMP4c.212C>G (p.Pro71Arg)
c.137C>G (p.Pro46Arg)
c.23C>G (p.Pro8Arg)
c.353C>G (p.Pro118Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53952011G=CA2137819289BMP4c.212C= (p.Pro71=)
c.137C= (p.Pro46=)
c.23C= (p.Pro8=)
c.353C= (p.Pro118=)
14g.53952011G>TCA389785341BMP4c.212C>A (p.Pro71Gln)
c.137C>A (p.Pro46Gln)
c.23C>A (p.Pro8Gln)
c.353C>A (p.Pro118Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.53952012G>ACA389785342BMP4c.211C>T (p.Pro71Ser)
c.136C>T (p.Pro46Ser)
c.22C>T (p.Pro8Ser)
c.352C>T (p.Pro118Ser)
14g.53952012G>CCA389785343BMP4c.211C>G (p.Pro71Ala)
c.136C>G (p.Pro46Ala)
c.22C>G (p.Pro8Ala)
c.352C>G (p.Pro118Ala)
14g.53952012G>TCA389785344BMP4c.211C>A (p.Pro71Thr)
c.136C>A (p.Pro46Thr)
c.22C>A (p.Pro8Thr)
c.352C>A (p.Pro118Thr)
14g.53952013G>ACA486658762BMP4c.210C>T (p.Arg70=)
c.135C>T (p.Arg45=)
c.21C>T (p.Arg7=)
c.351C>T (p.Arg117=)
14g.53952013G>CCA486658763BMP4c.210C>G (p.Arg70=)
c.135C>G (p.Arg45=)
c.21C>G (p.Arg7=)
c.351C>G (p.Arg117=)
14g.53952013G>TCA486658764BMP4c.210C>A (p.Arg70=)
c.135C>A (p.Arg45=)
c.21C>A (p.Arg7=)
c.351C>A (p.Arg117=)
14g.53952014C>ACA389785346BMP4c.209G>T (p.Arg70Leu)
c.134G>T (p.Arg45Leu)
c.20G>T (p.Arg7Leu)
c.350G>T (p.Arg117Leu)
 COSMIC
14g.53952014C=CA2137819293BMP4c.209G= (p.Arg70=)
c.134G= (p.Arg45=)
c.20G= (p.Arg7=)
c.350G= (p.Arg117=)
14g.53952014C>GCA389785345BMP4c.209G>C (p.Arg70Pro)
c.134G>C (p.Arg45Pro)
c.20G>C (p.Arg7Pro)
c.350G>C (p.Arg117Pro)
14g.53952014C>TCA7191813BMP4c.209G>A (p.Arg70His)
c.134G>A (p.Arg45His)
c.20G>A (p.Arg7His)
c.350G>A (p.Arg117His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53952015G>ACA389785347BMP4c.208C>T (p.Arg70Cys)
c.133C>T (p.Arg45Cys)
c.19C>T (p.Arg7Cys)
c.349C>T (p.Arg117Cys)
 dbSNP gnomAD v4 COSMIC
14g.53952015G>CCA389785348BMP4c.208C>G (p.Arg70Gly)
c.133C>G (p.Arg45Gly)
c.19C>G (p.Arg7Gly)
c.349C>G (p.Arg117Gly)
14g.53952015G=CA2137819296BMP4c.208C= (p.Arg70=)
c.133C= (p.Arg45=)
c.19C= (p.Arg7=)
c.349C= (p.Arg117=)
14g.53952015G>TCA389785349BMP4c.208C>A (p.Arg70Ser)
c.133C>A (p.Arg45Ser)
c.19C>A (p.Arg7Ser)
c.349C>A (p.Arg117Ser)
14g.53952016G>ACA486658769BMP4c.207C>T (p.Arg69=)
c.132C>T (p.Arg44=)
c.18C>T (p.Arg6=)
c.348C>T (p.Arg116=)
14g.53952016G>CCA486658770BMP4c.207C>G (p.Arg69=)
c.132C>G (p.Arg44=)
c.18C>G (p.Arg6=)
c.348C>G (p.Arg116=)
14g.53952016G>TCA486658771BMP4c.207C>A (p.Arg69=)
c.132C>A (p.Arg44=)
c.18C>A (p.Arg6=)
c.348C>A (p.Arg116=)
14g.53952017C>ACA389785350BMP4c.206G>T (p.Arg69Leu)
c.131G>T (p.Arg44Leu)
c.17G>T (p.Arg6Leu)
c.347G>T (p.Arg116Leu)
14g.53952017C=CA2137819299BMP4c.206G= (p.Arg69=)
c.131G= (p.Arg44=)
c.17G= (p.Arg6=)
c.347G= (p.Arg116=)
14g.53952017C>GCA389785351BMP4c.206G>C (p.Arg69Pro)
c.131G>C (p.Arg44Pro)
c.17G>C (p.Arg6Pro)
c.347G>C (p.Arg116Pro)
14g.53952017C>TCA389785352BMP4c.206G>A (p.Arg69His)
c.131G>A (p.Arg44His)
c.17G>A (p.Arg6His)
c.347G>A (p.Arg116His)
 dbSNP gnomAD v3 gnomAD v4
14g.53952018G>ACA389785353BMP4c.205C>T (p.Arg69Cys)
c.130C>T (p.Arg44Cys)
c.16C>T (p.Arg6Cys)
c.346C>T (p.Arg116Cys)
 gnomAD v4
14g.53952018G>CCA389785354BMP4c.205C>G (p.Arg69Gly)
c.130C>G (p.Arg44Gly)
c.16C>G (p.Arg6Gly)
c.346C>G (p.Arg116Gly)
14g.53952018G>TCA389785355BMP4c.205C>A (p.Arg69Ser)
c.130C>A (p.Arg44Ser)
c.16C>A (p.Arg6Ser)
c.346C>A (p.Arg116Ser)
 gnomAD v4
14g.53952019G>ACA7191814BMP4c.204C>T (p.Arg68=)
c.129C>T (p.Arg43=)
c.15C>T (p.Arg5=)
c.345C>T (p.Arg115=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53952019G>CCA486658774BMP4c.204C>G (p.Arg68=)
c.129C>G (p.Arg43=)
c.15C>G (p.Arg5=)
c.345C>G (p.Arg115=)
14g.53952019G=CA2137819302BMP4c.204C= (p.Arg68=)
c.129C= (p.Arg43=)
c.15C= (p.Arg5=)
c.345C= (p.Arg115=)
14g.53952019G>TCA486658775BMP4c.204C>A (p.Arg68=)
c.129C>A (p.Arg43=)
c.15C>A (p.Arg5=)
c.345C>A (p.Arg115=)
14g.53952020C>ACA389785356BMP4c.203G>T (p.Arg68Leu)
c.128G>T (p.Arg43Leu)
c.14G>T (p.Arg5Leu)
c.344G>T (p.Arg115Leu)
14g.53952020C=CA2137819305BMP4c.203G= (p.Arg68=)
c.128G= (p.Arg43=)
c.14G= (p.Arg5=)
c.344G= (p.Arg115=)
14g.53952020C>GCA389785357BMP4c.203G>C (p.Arg68Pro)
c.128G>C (p.Arg43Pro)
c.14G>C (p.Arg5Pro)
c.344G>C (p.Arg115Pro)
14g.53952020C>TCA389785358BMP4c.203G>A (p.Arg68His)
c.128G>A (p.Arg43His)
c.14G>A (p.Arg5His)
c.344G>A (p.Arg115His)
 dbSNP gnomAD v2 gnomAD v4
14g.53952021G>ACA389785361BMP4c.202C>T (p.Arg68Cys)
c.127C>T (p.Arg43Cys)
c.13C>T (p.Arg5Cys)
c.343C>T (p.Arg115Cys)
 gnomAD v4 COSMIC
14g.53952021G>CCA389785360BMP4c.202C>G (p.Arg68Gly)
c.127C>G (p.Arg43Gly)
c.13C>G (p.Arg5Gly)
c.343C>G (p.Arg115Gly)
14g.53952021G>TCA389785359BMP4c.202C>A (p.Arg68Ser)
c.127C>A (p.Arg43Ser)
c.13C>A (p.Arg5Ser)
c.343C>A (p.Arg115Ser)
14g.53952022C>ACA486658778BMP4c.201G>T (p.Leu67=)
c.126G>T (p.Leu42=)
c.12G>T (p.Leu4=)
c.342G>T (p.Leu114=)
14g.53952022C=CA2137819308BMP4c.201G= (p.Leu67=)
c.126G= (p.Leu42=)
c.12G= (p.Leu4=)
c.342G= (p.Leu114=)
14g.53952022C>GCA486658780BMP4c.201G>C (p.Leu67=)
c.126G>C (p.Leu42=)
c.12G>C (p.Leu4=)
c.342G>C (p.Leu114=)
14g.53952022C>TCA486658782BMP4c.201G>A (p.Leu67=)
c.126G>A (p.Leu42=)
c.12G>A (p.Leu4=)
c.342G>A (p.Leu114=)
 dbSNP gnomAD v3 gnomAD v4
14g.53952023A>CCA389785362BMP4c.200T>G (p.Leu67Arg)
c.125T>G (p.Leu42Arg)
c.11T>G (p.Leu4Arg)
c.341T>G (p.Leu114Arg)
14g.53952023A>GCA389785363BMP4c.200T>C (p.Leu67Pro)
c.125T>C (p.Leu42Pro)
c.11T>C (p.Leu4Pro)
c.341T>C (p.Leu114Pro)
14g.53952023A>TCA389785364BMP4c.200T>A (p.Leu67Gln)
c.125T>A (p.Leu42Gln)
c.11T>A (p.Leu4Gln)
c.341T>A (p.Leu114Gln)
 ClinVar dbSNP
14g.53952024G>ACA486658784BMP4c.199C>T (p.Leu67=)
c.124C>T (p.Leu42=)
c.10C>T (p.Leu4=)
c.340C>T (p.Leu114=)
14g.53952024G>CCA389785365BMP4c.199C>G (p.Leu67Val)
c.124C>G (p.Leu42Val)
c.10C>G (p.Leu4Val)
c.340C>G (p.Leu114Val)
14g.53952024G>TCA389785366BMP4c.199C>A (p.Leu67Met)
c.124C>A (p.Leu42Met)
c.10C>A (p.Leu4Met)
c.340C>A (p.Leu114Met)
14g.53952025C>ACA486658786BMP4c.198G>T (p.Gly66=)
c.123G>T (p.Gly41=)
c.9G>T (p.Gly3=)
c.339G>T (p.Gly113=)
14g.53952025C>GCA486658787BMP4c.198G>C (p.Gly66=)
c.123G>C (p.Gly41=)
c.9G>C (p.Gly3=)
c.339G>C (p.Gly113=)
14g.53952025C>TCA486658788BMP4c.198G>A (p.Gly66=)
c.123G>A (p.Gly41=)
c.9G>A (p.Gly3=)
c.339G>A (p.Gly113=)
14g.53952026C>ACA389785367BMP4c.197G>T (p.Gly66Val)
c.122G>T (p.Gly41Val)
c.8G>T (p.Gly3Val)
c.338G>T (p.Gly113Val)
14g.53952026C=CA2137819312BMP4c.197G= (p.Gly66=)
c.122G= (p.Gly41=)
c.8G= (p.Gly3=)
c.338G= (p.Gly113=)
14g.53952026C>GCA389785368BMP4c.197G>C (p.Gly66Ala)
c.122G>C (p.Gly41Ala)
c.8G>C (p.Gly3Ala)
c.338G>C (p.Gly113Ala)
14g.53952026C>TCA389785369BMP4c.197G>A (p.Gly66Glu)
c.122G>A (p.Gly41Glu)
c.8G>A (p.Gly3Glu)
c.338G>A (p.Gly113Glu)
 ClinVar dbSNP gnomAD v4
14g.53952027C>ACA389785370BMP4c.196G>T (p.Gly66Trp)
c.121G>T (p.Gly41Trp)
c.7G>T (p.Gly3Trp)
c.337G>T (p.Gly113Trp)
14g.53952027C>GCA389785371BMP4c.196G>C (p.Gly66Arg)
c.121G>C (p.Gly41Arg)
c.7G>C (p.Gly3Arg)
c.337G>C (p.Gly113Arg)
14g.53952027C>TCA389785372BMP4c.196G>A (p.Gly66Arg)
c.121G>A (p.Gly41Arg)
c.7G>A (p.Gly3Arg)
c.337G>A (p.Gly113Arg)
14g.53952028A>CCA389785373BMP4c.195T>G (p.Phe65Leu)
c.120T>G (p.Phe40Leu)
c.6T>G (p.Phe2Leu)
c.336T>G (p.Phe112Leu)
14g.53952028A>GCA486658790BMP4c.195T>C (p.Phe65=)
c.120T>C (p.Phe40=)
c.6T>C (p.Phe2=)
c.336T>C (p.Phe112=)
14g.53952028A>TCA389785374BMP4c.195T>A (p.Phe65Leu)
c.120T>A (p.Phe40Leu)
c.6T>A (p.Phe2Leu)
c.336T>A (p.Phe112Leu)
14g.53952029A>CCA389785377BMP4c.194T>G (p.Phe65Cys)
c.119T>G (p.Phe40Cys)
c.5T>G (p.Phe2Cys)
c.335T>G (p.Phe112Cys)
14g.53952029A>GCA389785376BMP4c.194T>C (p.Phe65Ser)
c.119T>C (p.Phe40Ser)
c.5T>C (p.Phe2Ser)
c.335T>C (p.Phe112Ser)
14g.53952029A>TCA389785375BMP4c.194T>A (p.Phe65Tyr)
c.119T>A (p.Phe40Tyr)
c.5T>A (p.Phe2Tyr)
c.335T>A (p.Phe112Tyr)
14g.53952030A>CCA389785378BMP4c.193T>G (p.Phe65Val)
c.118T>G (p.Phe40Val)
c.4T>G (p.Phe2Val)
c.334T>G (p.Phe112Val)
14g.53952030A>GCA389785379BMP4c.193T>C (p.Phe65Leu)
c.118T>C (p.Phe40Leu)
c.4T>C (p.Phe2Leu)
c.334T>C (p.Phe112Leu)
14g.53952030A>TCA389785380BMP4c.193T>A (p.Phe65Ile)
c.118T>A (p.Phe40Ile)
c.4T>A (p.Phe2Ile)
c.334T>A (p.Phe112Ile)
14g.53952031C>ACA389785381BMP4c.192G>T (p.Met64Ile)
c.117G>T (p.Met39Ile)
c.3G>T (p.Met1Ile)
c.333G>T (p.Met111Ile)
 gnomAD v4
14g.53952031C>GCA389785382BMP4c.192G>C (p.Met64Ile)
c.117G>C (p.Met39Ile)
c.3G>C (p.Met1Ile)
c.333G>C (p.Met111Ile)
14g.53952031C>TCA389785383BMP4c.192G>A (p.Met64Ile)
c.117G>A (p.Met39Ile)
c.3G>A (p.Met1Ile)
c.333G>A (p.Met111Ile)
14g.53952032A>CCA389785384BMP4c.191T>G (p.Met64Arg)
c.116T>G (p.Met39Arg)
c.2T>G (p.Met1Arg)
c.332T>G (p.Met111Arg)
14g.53952032A>GCA389785385BMP4c.191T>C (p.Met64Thr)
c.116T>C (p.Met39Thr)
c.2T>C (p.Met1Thr)
c.332T>C (p.Met111Thr)
14g.53952032A>TCA389785386BMP4c.191T>A (p.Met64Lys)
c.116T>A (p.Met39Lys)
c.2T>A (p.Met1Lys)
c.332T>A (p.Met111Lys)
14g.53952033T>ACA389785387BMP4c.190A>T (p.Met64Leu)
c.115A>T (p.Met39Leu)
c.1A>T (p.Met1Leu)
c.331A>T (p.Met111Leu)
14g.53952033T>CCA261472785BMP4c.190A>G (p.Met64Val)
c.115A>G (p.Met39Val)
c.1A>G (p.Met1Val)
c.331A>G (p.Met111Val)
 dbSNP gnomAD v4
14g.53952033T>GCA389785388BMP4c.190A>C (p.Met64Leu)
c.115A>C (p.Met39Leu)
c.1A>C (p.Met1Leu)
c.331A>C (p.Met111Leu)
14g.53952033T=CA2137819316BMP4c.190A= (p.Met64=)
c.115A= (p.Met39=)
c.1A= (p.Met1=)
c.331A= (p.Met111=)
14g.53952034C>ACA389785389BMP4c.189G>T (p.Gln63His)
c.114G>T (p.Gln38His)
c.-1G>T (n.-1G>T)
c.330G>T (p.Gln110His)
14g.53952034C=CA2137819319BMP4c.189G= (p.Gln63=)
c.114G= (p.Gln38=)
c.-1G= (n.-1G=)
c.330G= (p.Gln110=)
14g.53952034C>GCA389785390BMP4c.189G>C (p.Gln63His)
c.114G>C (p.Gln38His)
c.-1G>C (n.-1G>C)
c.330G>C (p.Gln110His)
 dbSNP
14g.53952034C>TCA486658796BMP4c.189G>A (p.Gln63=)
c.114G>A (p.Gln38=)
c.-1G>A (n.-1G>A)
c.330G>A (p.Gln110=)
14g.53952035T>ACA389785393BMP4c.188A>T (p.Gln63Leu)
c.113A>T (p.Gln38Leu)
c.-2A>T (n.-2A>T)
c.329A>T (p.Gln110Leu)
14g.53952035T>CCA389785392BMP4c.188A>G (p.Gln63Arg)
c.113A>G (p.Gln38Arg)
c.-2A>G (n.-2A>G)
c.329A>G (p.Gln110Arg)
14g.53952035T>GCA389785391BMP4c.188A>C (p.Gln63Pro)
c.113A>C (p.Gln38Pro)
c.-2A>C (n.-2A>C)
c.329A>C (p.Gln110Pro)
14g.53952036G>ACA389785394BMP4c.187C>T (p.Gln63Ter)
c.112C>T (p.Gln38Ter)
c.-3C>T (n.-3C>T)
c.328C>T (p.Gln110Ter)
14g.53952036G>CCA389785395BMP4c.187C>G (p.Gln63Glu)
c.112C>G (p.Gln38Glu)
c.-3C>G (n.-3C>G)
c.328C>G (p.Gln110Glu)
14g.53952036G>TCA389785396BMP4c.187C>A (p.Gln63Lys)
c.112C>A (p.Gln38Lys)
c.-3C>A (n.-3C>A)
c.328C>A (p.Gln110Lys)
14g.53952037C>ACA486658808BMP4c.186G>T (p.Leu62=)
c.111G>T (p.Leu37=)
c.-4G>T (n.-4G>T)
c.327G>T (p.Leu109=)
14g.53952037C>GCA486658809BMP4c.186G>C (p.Leu62=)
c.111G>C (p.Leu37=)
c.-4G>C (n.-4G>C)
c.327G>C (p.Leu109=)
14g.53952037C>TCA486658810BMP4c.186G>A (p.Leu62=)
c.111G>A (p.Leu37=)
c.-4G>A (n.-4G>A)
c.327G>A (p.Leu109=)
14g.53952038A=CA2137819323BMP4c.185T= (p.Leu62=)
c.110T= (p.Leu37=)
c.-5T= (n.-5T=)
c.326T= (p.Leu109=)
14g.53952038A>CCA389785397BMP4c.185T>G (p.Leu62Arg)
c.110T>G (p.Leu37Arg)
c.-5T>G (n.-5T>G)
c.326T>G (p.Leu109Arg)
 dbSNP gnomAD v4
14g.53952038A>GCA389785398BMP4c.185T>C (p.Leu62Pro)
c.110T>C (p.Leu37Pro)
c.-5T>C (n.-5T>C)
c.326T>C (p.Leu109Pro)
 gnomAD v4
14g.53952038A>TCA389785399BMP4c.185T>A (p.Leu62Gln)
c.110T>A (p.Leu37Gln)
c.-5T>A (n.-5T>A)
c.326T>A (p.Leu109Gln)
14g.53952039G>ACA486658812BMP4c.184C>T (p.Leu62=)
c.109C>T (p.Leu37=)
c.-6C>T (n.-6C>T)
c.325C>T (p.Leu109=)
 gnomAD v4
14g.53952039G>CCA389785400BMP4c.184C>G (p.Leu62Val)
c.109C>G (p.Leu37Val)
c.-6C>G (n.-6C>G)
c.325C>G (p.Leu109Val)
 ClinVar dbSNP gnomAD v4
14g.53952039G>TCA389785401BMP4c.184C>A (p.Leu62Met)
c.109C>A (p.Leu37Met)
c.-6C>A (n.-6C>A)
c.325C>A (p.Leu109Met)
14g.53952040A>CCA486658813BMP4c.183T>G (p.Leu61=)
c.108T>G (p.Leu36=)
c.-7T>G (n.-7T>G)
c.324T>G (p.Leu108=)
14g.53952040A>GCA486658815BMP4c.183T>C (p.Leu61=)
c.108T>C (p.Leu36=)
c.-7T>C (n.-7T>C)
c.324T>C (p.Leu108=)
14g.53952040A>TCA486658817BMP4c.183T>A (p.Leu61=)
c.108T>A (p.Leu36=)
c.-7T>A (n.-7T>A)
c.324T>A (p.Leu108=)
14g.53952041A>CCA389785402BMP4c.182T>G (p.Leu61Arg)
c.107T>G (p.Leu36Arg)
c.-8T>G (n.-8T>G)
c.323T>G (p.Leu108Arg)
14g.53952041A>GCA389785403BMP4c.182T>C (p.Leu61Pro)
c.107T>C (p.Leu36Pro)
c.-8T>C (n.-8T>C)
c.323T>C (p.Leu108Pro)
14g.53952041A>TCA389785404BMP4c.182T>A (p.Leu61His)
c.107T>A (p.Leu36His)
c.-8T>A (n.-8T>A)
c.323T>A (p.Leu108His)
14g.53952042G>ACA389785405BMP4c.181C>T (p.Leu61Phe)
c.106C>T (p.Leu36Phe)
c.-9C>T (n.-9C>T)
c.322C>T (p.Leu108Phe)
 gnomAD v4
14g.53952042G>CCA389785406BMP4c.181C>G (p.Leu61Val)
c.106C>G (p.Leu36Val)
c.-9C>G (n.-9C>G)
c.322C>G (p.Leu108Val)
 gnomAD v4
14g.53952042G>TCA389785407BMP4c.181C>A (p.Leu61Ile)
c.106C>A (p.Leu36Ile)
c.-9C>A (n.-9C>A)
c.322C>A (p.Leu108Ile)
14g.53952043T>ACA486658821BMP4c.180A>T (p.Thr60=)
c.105A>T (p.Thr35=)
c.-10A>T (n.-10A>T)
c.321A>T (p.Thr107=)
14g.53952043T>CCA486658822BMP4c.180A>G (p.Thr60=)
c.105A>G (p.Thr35=)
c.-10A>G (n.-10A>G)
c.321A>G (p.Thr107=)
 ClinVar
14g.53952043T>GCA486658824BMP4c.180A>C (p.Thr60=)
c.105A>C (p.Thr35=)
c.-10A>C (n.-10A>C)
c.321A>C (p.Thr107=)
14g.53952044G>ACA389785409BMP4c.179C>T (p.Thr60Ile)
c.104C>T (p.Thr35Ile)
c.-11C>T (n.-11C>T)
c.320C>T (p.Thr107Ile)
14g.53952044G>CCA389785410BMP4c.179C>G (p.Thr60Arg)
c.104C>G (p.Thr35Arg)
c.-11C>G (n.-11C>G)
c.320C>G (p.Thr107Arg)
14g.53952044G>TCA389785408BMP4c.179C>A (p.Thr60Lys)
c.104C>A (p.Thr35Lys)
c.-11C>A (n.-11C>A)
c.320C>A (p.Thr107Lys)
14g.53952045T>ACA389785411BMP4c.178A>T (p.Thr60Ser)
c.103A>T (p.Thr35Ser)
c.-12A>T (n.-12A>T)
c.319A>T (p.Thr107Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.53952045T>CCA389785412BMP4c.178A>G (p.Thr60Ala)
c.103A>G (p.Thr35Ala)
c.-12A>G (n.-12A>G)
c.319A>G (p.Thr107Ala)
 gnomAD v4
14g.53952045T>GCA389785413BMP4c.178A>C (p.Thr60Pro)
c.103A>C (p.Thr35Pro)
c.-12A>C (n.-12A>C)
c.319A>C (p.Thr107Pro)
14g.53952045T=CA2137819325BMP4c.178A= (p.Thr60=)
c.103A= (p.Thr35=)
c.-12A= (n.-12A=)
c.319A= (p.Thr107=)
14g.53952046C>ACA486658829BMP4c.177G>T (p.Ala59=)
c.102G>T (p.Ala34=)
c.-13G>T (n.-13G>T)
c.318G>T (p.Ala106=)
14g.53952046C=CA2137819329BMP4c.177G= (p.Ala59=)
c.102G= (p.Ala34=)
c.-13G= (n.-13G=)
c.318G= (p.Ala106=)
14g.53952046C>GCA486658828BMP4c.177G>C (p.Ala59=)
c.102G>C (p.Ala34=)
c.-13G>C (n.-13G>C)
c.318G>C (p.Ala106=)
14g.53952046C>TCA261472786BMP4c.177G>A (p.Ala59=)
c.102G>A (p.Ala34=)
c.-13G>A (n.-13G>A)
c.318G>A (p.Ala106=)
 dbSNP gnomAD v4 COSMIC
14g.53952047G>ACA389785414BMP4c.176C>T (p.Ala59Val)
c.101C>T (p.Ala34Val)
c.-14C>T (n.-14C>T)
c.317C>T (p.Ala106Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53952047G>CCA389785415BMP4c.176C>G (p.Ala59Gly)
c.101C>G (p.Ala34Gly)
c.-14C>G (n.-14C>G)
c.317C>G (p.Ala106Gly)
14g.53952047G=CA2137819332BMP4c.176C= (p.Ala59=)
c.101C= (p.Ala34=)
c.-14C= (n.-14C=)
c.317C= (p.Ala106=)
14g.53952047G>TCA389785416BMP4c.176C>A (p.Ala59Glu)
c.101C>A (p.Ala34Glu)
c.-14C>A (n.-14C>A)
c.317C>A (p.Ala106Glu)
 dbSNP
14g.53952048C>ACA389785419BMP4c.175G>T (p.Ala59Ser)
c.100G>T (p.Ala34Ser)
c.-15G>T (n.-15G>T)
c.316G>T (p.Ala106Ser)
14g.53952048C>GCA389785417BMP4c.175G>C (p.Ala59Pro)
c.100G>C (p.Ala34Pro)
c.-15G>C (n.-15G>C)
c.316G>C (p.Ala106Pro)
14g.53952048C>TCA389785418BMP4c.175G>A (p.Ala59Thr)
c.100G>A (p.Ala34Thr)
c.-15G>A (n.-15G>A)
c.316G>A (p.Ala106Thr)

Number of alleles fetched