Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.6778541C>ACA509818026BMP2c.643C>A (p.Arg215=)
c.175C>A (p.Arg59=)
dbSNP
20g.6778541C=CA2348112161BMP2c.643C= (p.Arg215=)
c.175C= (p.Arg59=)
20g.6778541C>GCA408258790BMP2c.643C>G (p.Arg215Gly)
c.175C>G (p.Arg59Gly)
20g.6778541C>TCA408258791BMP2c.643C>T (p.Arg215Trp)
c.175C>T (p.Arg59Trp)
dbSNP
20g.6778542G>ACA9758723BMP2c.644G>A (p.Arg215Gln)
c.176G>A (p.Arg59Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778542G>CCA408258792BMP2c.644G>C (p.Arg215Pro)
c.176G>C (p.Arg59Pro)
gnomAD v4
20g.6778542G=CA2348112162BMP2c.644G= (p.Arg215=)
c.176G= (p.Arg59=)
20g.6778542G>TCA408258793BMP2c.644G>T (p.Arg215Leu)
c.176G>T (p.Arg59Leu)
gnomAD v4
20g.6778543G>ACA509818029BMP2c.645G>A (p.Arg215=)
c.177G>A (p.Arg59=)
20g.6778543G>CCA509818028BMP2c.645G>C (p.Arg215=)
c.177G>C (p.Arg59=)
20g.6778543G>TCA509818027BMP2c.645G>T (p.Arg215=)
c.177G>T (p.Arg59=)
20g.6778544T>ACA408258796BMP2c.646T>A (p.Trp216Arg)
c.178T>A (p.Trp60Arg)
20g.6778544T>CCA408258795BMP2c.646T>C (p.Trp216Arg)
c.178T>C (p.Trp60Arg)
20g.6778544T>GCA408258794BMP2c.646T>G (p.Trp216Gly)
c.178T>G (p.Trp60Gly)
20g.6778545G>ACA408258797BMP2c.647G>A (p.Trp216Ter)
c.179G>A (p.Trp60Ter)
20g.6778545G>CCA408258798BMP2c.647G>C (p.Trp216Ser)
c.179G>C (p.Trp60Ser)
20g.6778545G>TCA408258799BMP2c.647G>T (p.Trp216Leu)
c.179G>T (p.Trp60Leu)
20g.6778546G>ACA408258800BMP2c.648G>A (p.Trp216Ter)
c.180G>A (p.Trp60Ter)
20g.6778546G>CCA311471924BMP2c.648G>C (p.Trp216Cys)
c.180G>C (p.Trp60Cys)
dbSNP gnomAD v3 gnomAD v4
20g.6778546G=CA2348112163BMP2c.648G= (p.Trp216=)
c.180G= (p.Trp60=)
20g.6778546G>TCA408258801BMP2c.648G>T (p.Trp216Cys)
c.180G>T (p.Trp60Cys)
gnomAD v4
20g.6778547A>CCA408258804BMP2c.649A>C (p.Thr217Pro)
c.181A>C (p.Thr61Pro)
20g.6778547A>GCA408258802BMP2c.649A>G (p.Thr217Ala)
c.181A>G (p.Thr61Ala)
gnomAD v4
20g.6778547A>TCA408258803BMP2c.649A>T (p.Thr217Ser)
c.181A>T (p.Thr61Ser)
20g.6778548C>ACA408258805BMP2c.650C>A (p.Thr217Asn)
c.182C>A (p.Thr61Asn)
20g.6778548C>GCA408258806BMP2c.650C>G (p.Thr217Ser)
c.182C>G (p.Thr61Ser)
20g.6778548C>TCA408258807BMP2c.650C>T (p.Thr217Ile)
c.182C>T (p.Thr61Ile)
20g.6778549T>ACA509818034BMP2c.651T>A (p.Thr217=)
c.183T>A (p.Thr61=)
20g.6778549T>CCA509818035BMP2c.651T>C (p.Thr217=)
c.183T>C (p.Thr61=)
20g.6778549T>GCA509818036BMP2c.651T>G (p.Thr217=)
c.183T>G (p.Thr61=)
gnomAD v4
20g.6778550G>ACA9758724BMP2c.652G>A (p.Ala218Thr)
c.184G>A (p.Ala62Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778550G>CCA408258808BMP2c.652G>C (p.Ala218Pro)
c.184G>C (p.Ala62Pro)
20g.6778550G=CA2348112164BMP2c.652G= (p.Ala218=)
c.184G= (p.Ala62=)
20g.6778550G>TCA408258809BMP2c.652G>T (p.Ala218Ser)
c.184G>T (p.Ala62Ser)
20g.6778551C>ACA408258810BMP2c.653C>A (p.Ala218Glu)
c.185C>A (p.Ala62Glu)
20g.6778551C=CA2348112165BMP2c.653C= (p.Ala218=)
c.185C= (p.Ala62=)
20g.6778551C>GCA408258811BMP2c.653C>G (p.Ala218Gly)
c.185C>G (p.Ala62Gly)
20g.6778551C>TCA408258812BMP2c.653C>T (p.Ala218Val)
c.185C>T (p.Ala62Val)
dbSNP gnomAD v2 gnomAD v4
20g.6778552A=CA2348112166BMP2c.654A= (p.Ala218=)
c.186A= (p.Ala62=)
20g.6778552A>CCA509818041BMP2c.654A>C (p.Ala218=)
c.186A>C (p.Ala62=)
20g.6778552A>GCA311471925BMP2c.654A>G (p.Ala218=)
c.186A>G (p.Ala62=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778552A>TCA509818042BMP2c.654A>T (p.Ala218=)
c.186A>T (p.Ala62=)
20g.6778553C>ACA408258813BMP2c.655C>A (p.Gln219Lys)
c.187C>A (p.Gln63Lys)
20g.6778553C>GCA408258814BMP2c.655C>G (p.Gln219Glu)
c.187C>G (p.Gln63Glu)
20g.6778553C>TCA408258815BMP2c.655C>T (p.Gln219Ter)
c.187C>T (p.Gln63Ter)
20g.6778554A>CCA408258816BMP2c.656A>C (p.Gln219Pro)
c.188A>C (p.Gln63Pro)
20g.6778554A>GCA408258818BMP2c.656A>G (p.Gln219Arg)
c.188A>G (p.Gln63Arg)
20g.6778554A>TCA408258817BMP2c.656A>T (p.Gln219Leu)
c.188A>T (p.Gln63Leu)
20g.6778555G>ACA509818047BMP2c.657G>A (p.Gln219=)
c.189G>A (p.Gln63=)
gnomAD v4
20g.6778555G>CCA408258819BMP2c.657G>C (p.Gln219His)
c.189G>C (p.Gln63His)
20g.6778555G>TCA408258820BMP2c.657G>T (p.Gln219His)
c.189G>T (p.Gln63His)
20g.6778556G>ACA408258821BMP2c.658G>A (p.Gly220Arg)
c.190G>A (p.Gly64Arg)
20g.6778556G>CCA408258822BMP2c.658G>C (p.Gly220Arg)
c.190G>C (p.Gly64Arg)
20g.6778556G>TCA408258823BMP2c.658G>T (p.Gly220Ter)
c.190G>T (p.Gly64Ter)
20g.6778557G>ACA311471927BMP2c.659G>A (p.Gly220Glu)
c.191G>A (p.Gly64Glu)
dbSNP
20g.6778557G>CCA408258824BMP2c.659G>C (p.Gly220Ala)
c.191G>C (p.Gly64Ala)
gnomAD v4
20g.6778557G=CA2348112167BMP2c.659G= (p.Gly220=)
c.191G= (p.Gly64=)
20g.6778557G>TCA311471926BMP2c.659G>T (p.Gly220Val)
c.191G>T (p.Gly64Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778558A=CA2348112168BMP2c.660A= (p.Gly220=)
c.192A= (p.Gly64=)
20g.6778558A>CCA509818054BMP2c.660A>C (p.Gly220=)
c.192A>C (p.Gly64=)
20g.6778558A>GCA509818056BMP2c.660A>G (p.Gly220=)
c.192A>G (p.Gly64=)
dbSNP gnomAD v2 gnomAD v4
20g.6778558A>TCA509818057BMP2c.660A>T (p.Gly220=)
c.192A>T (p.Gly64=)
20g.6778559C>ACA408258825BMP2c.661C>A (p.His221Asn)
c.193C>A (p.His65Asn)
gnomAD v4
20g.6778559C>GCA408258826BMP2c.661C>G (p.His221Asp)
c.193C>G (p.His65Asp)
20g.6778559C>TCA408258827BMP2c.661C>T (p.His221Tyr)
c.193C>T (p.His65Tyr)
20g.6778560A=CA2348112169BMP2c.662A= (p.His221=)
c.194A= (p.His65=)
20g.6778560A>CCA408258828BMP2c.662A>C (p.His221Pro)
c.194A>C (p.His65Pro)
20g.6778560A>GCA408258829BMP2c.662A>G (p.His221Arg)
c.194A>G (p.His65Arg)
ClinVar dbSNP gnomAD v4
20g.6778560A>TCA408258830BMP2c.662A>T (p.His221Leu)
c.194A>T (p.His65Leu)
20g.6778561C>ACA408258831BMP2c.663C>A (p.His221Gln)
c.195C>A (p.His65Gln)
20g.6778561C=CA2348112170BMP2c.663C= (p.His221=)
c.195C= (p.His65=)
20g.6778561C>GCA408258832BMP2c.663C>G (p.His221Gln)
c.195C>G (p.His65Gln)
20g.6778561C>TCA9758725BMP2c.663C>T (p.His221=)
c.195C>T (p.His65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778562G>ACA9758726BMP2c.664G>A (p.Ala222Thr)
c.196G>A (p.Ala66Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778562G>CCA408258833BMP2c.664G>C (p.Ala222Pro)
c.196G>C (p.Ala66Pro)
20g.6778562G=CA2348112171BMP2c.664G= (p.Ala222=)
c.196G= (p.Ala66=)
20g.6778562G>TCA408258834BMP2c.664G>T (p.Ala222Ser)
c.196G>T (p.Ala66Ser)
gnomAD v4
20g.6778563C>ACA408258835BMP2c.665C>A (p.Ala222Asp)
c.197C>A (p.Ala66Asp)
20g.6778563C=CA2348112172BMP2c.665C= (p.Ala222=)
c.197C= (p.Ala66=)
20g.6778563C>GCA408258836BMP2c.665C>G (p.Ala222Gly)
c.197C>G (p.Ala66Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778563C>TCA408258837BMP2c.665C>T (p.Ala222Val)
c.197C>T (p.Ala66Val)
20g.6778564C>ACA509818066BMP2c.666C>A (p.Ala222=)
c.198C>A (p.Ala66=)
20g.6778564C=CA2348112173BMP2c.666C= (p.Ala222=)
c.198C= (p.Ala66=)
20g.6778564C>GCA509818064BMP2c.666C>G (p.Ala222=)
c.198C>G (p.Ala66=)
20g.6778564C>TCA509818065BMP2c.666C>T (p.Ala222=)
c.198C>T (p.Ala66=)
dbSNP gnomAD v3 gnomAD v4
20g.6778565A>CCA408258838BMP2c.667A>C (p.Asn223His)
c.199A>C (p.Asn67His)
20g.6778565A>GCA408258839BMP2c.667A>G (p.Asn223Asp)
c.199A>G (p.Asn67Asp)
20g.6778565A>TCA408258840BMP2c.667A>T (p.Asn223Tyr)
c.199A>T (p.Asn67Tyr)
20g.6778566A=CA2348112174BMP2c.668A= (p.Asn223=)
c.200A= (p.Asn67=)
20g.6778566A>CCA408258841BMP2c.668A>C (p.Asn223Thr)
c.200A>C (p.Asn67Thr)
20g.6778566A>GCA9758727BMP2c.668A>G (p.Asn223Ser)
c.200A>G (p.Asn67Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778566A>TCA408258842BMP2c.668A>T (p.Asn223Ile)
c.200A>T (p.Asn67Ile)
20g.6778567C>ACA408258844BMP2c.669C>A (p.Asn223Lys)
c.201C>A (p.Asn67Lys)
20g.6778567C>GCA408258843BMP2c.669C>G (p.Asn223Lys)
c.201C>G (p.Asn67Lys)
20g.6778567C>TCA509818068BMP2c.669C>T (p.Asn223=)
c.201C>T (p.Asn67=)
20g.6778568C>ACA408258845BMP2c.670C>A (p.His224Asn)
c.202C>A (p.His68Asn)
20g.6778568C>GCA408258847BMP2c.670C>G (p.His224Asp)
c.202C>G (p.His68Asp)
20g.6778568C>TCA408258846BMP2c.670C>T (p.His224Tyr)
c.202C>T (p.His68Tyr)
20g.6778569A=CA2348112175BMP2c.671A= (p.His224=)
c.203A= (p.His68=)
20g.6778569A>CCA408258848BMP2c.671A>C (p.His224Pro)
c.203A>C (p.His68Pro)
20g.6778569A>GCA408258850BMP2c.671A>G (p.His224Arg)
c.203A>G (p.His68Arg)
dbSNP gnomAD v3 gnomAD v4
20g.6778569A>TCA408258849BMP2c.671A>T (p.His224Leu)
c.203A>T (p.His68Leu)
20g.6778570T>ACA408258851BMP2c.672T>A (p.His224Gln)
c.204T>A (p.His68Gln)
20g.6778570T>CCA509818069BMP2c.672T>C (p.His224=)
c.204T>C (p.His68=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778570T>GCA408258852BMP2c.672T>G (p.His224Gln)
c.204T>G (p.His68Gln)
20g.6778570T=CA2348112176BMP2c.672T= (p.His224=)
c.204T= (p.His68=)
20g.6778571G>ACA311471928BMP2c.673G>A (p.Gly225Arg)
c.205G>A (p.Gly69Arg)
dbSNP COSMIC
20g.6778571G>CCA408258853BMP2c.673G>C (p.Gly225Arg)
c.205G>C (p.Gly69Arg)
20g.6778571G=CA2348112177BMP2c.673G= (p.Gly225=)
c.205G= (p.Gly69=)
20g.6778571G>TCA408258854BMP2c.673G>T (p.Gly225Ter)
c.205G>T (p.Gly69Ter)
20g.6778572G>ACA408258855BMP2c.674G>A (p.Gly225Glu)
c.206G>A (p.Gly69Glu)
20g.6778572G>CCA408258856BMP2c.674G>C (p.Gly225Ala)
c.206G>C (p.Gly69Ala)
20g.6778572G>TCA408258857BMP2c.674G>T (p.Gly225Val)
c.206G>T (p.Gly69Val)
20g.6778573A>CCA509818070BMP2c.675A>C (p.Gly225=)
c.207A>C (p.Gly69=)
20g.6778573A>GCA509818071BMP2c.675A>G (p.Gly225=)
c.207A>G (p.Gly69=)
20g.6778573A>TCA509818072BMP2c.675A>T (p.Gly225=)
c.207A>T (p.Gly69=)
20g.6778574T>ACA408258860BMP2c.676T>A (p.Phe226Ile)
c.208T>A (p.Phe70Ile)
20g.6778574T>CCA408258859BMP2c.676T>C (p.Phe226Leu)
c.208T>C (p.Phe70Leu)
20g.6778574T>GCA408258858BMP2c.676T>G (p.Phe226Val)
c.208T>G (p.Phe70Val)
20g.6778575T>ACA408258861BMP2c.677T>A (p.Phe226Tyr)
c.209T>A (p.Phe70Tyr)
20g.6778575T>CCA408258862BMP2c.677T>C (p.Phe226Ser)
c.209T>C (p.Phe70Ser)
20g.6778575T>GCA408258863BMP2c.677T>G (p.Phe226Cys)
c.209T>G (p.Phe70Cys)
20g.6778576C>ACA408258864BMP2c.678C>A (p.Phe226Leu)
c.210C>A (p.Phe70Leu)
20g.6778576C=CA2348112178BMP2c.678C= (p.Phe226=)
c.210C= (p.Phe70=)
20g.6778576C>GCA408258865BMP2c.678C>G (p.Phe226Leu)
c.210C>G (p.Phe70Leu)
20g.6778576C>TCA9758728BMP2c.678C>T (p.Phe226=)
c.210C>T (p.Phe70=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778577G>ACA9758729BMP2c.679G>A (p.Val227Met)
c.211G>A (p.Val71Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778577G>CCA408258867BMP2c.679G>C (p.Val227Leu)
c.211G>C (p.Val71Leu)
dbSNP gnomAD v2 gnomAD v4
20g.6778577G=CA2348112179BMP2c.679G= (p.Val227=)
c.211G= (p.Val71=)
20g.6778577G>TCA408258866BMP2c.679G>T (p.Val227Leu)
c.211G>T (p.Val71Leu)
dbSNP
20g.6778578T>ACA408258868BMP2c.680T>A (p.Val227Glu)
c.212T>A (p.Val71Glu)
20g.6778578T>CCA408258869BMP2c.680T>C (p.Val227Ala)
c.212T>C (p.Val71Ala)
20g.6778578T>GCA408258870BMP2c.680T>G (p.Val227Gly)
c.212T>G (p.Val71Gly)
20g.6778579G>ACA9758730BMP2c.681G>A (p.Val227=)
c.213G>A (p.Val71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778579G>CCA509818073BMP2c.681G>C (p.Val227=)
c.213G>C (p.Val71=)
gnomAD v4
20g.6778579G=CA2348112180BMP2c.681G= (p.Val227=)
c.213G= (p.Val71=)
20g.6778579G>TCA509818074BMP2c.681G>T (p.Val227=)
c.213G>T (p.Val71=)
20g.6778580G>ACA408258871BMP2c.682G>A (p.Val228Met)
c.214G>A (p.Val72Met)
ClinVar dbSNP gnomAD v4
20g.6778580G>CCA408258872BMP2c.682G>C (p.Val228Leu)
c.214G>C (p.Val72Leu)
20g.6778580G=CA2348112181BMP2c.682G= (p.Val228=)
c.214G= (p.Val72=)
20g.6778580G>TCA9758731BMP2c.682G>T (p.Val228Leu)
c.214G>T (p.Val72Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778581T>ACA408258873BMP2c.683T>A (p.Val228Glu)
c.215T>A (p.Val72Glu)
20g.6778581T>CCA9758732BMP2c.683T>C (p.Val228Ala)
c.215T>C (p.Val72Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778581T>GCA408258874BMP2c.683T>G (p.Val228Gly)
c.215T>G (p.Val72Gly)
20g.6778581T=CA2348112182BMP2c.683T= (p.Val228=)
c.215T= (p.Val72=)
20g.6778582G>ACA311471929BMP2c.684G>A (p.Val228=)
c.216G>A (p.Val72=)
dbSNP gnomAD v3 gnomAD v4
20g.6778582G>CCA509818075BMP2c.684G>C (p.Val228=)
c.216G>C (p.Val72=)
20g.6778582G=CA2348112183BMP2c.684G= (p.Val228=)
c.216G= (p.Val72=)
20g.6778582G>TCA509818076BMP2c.684G>T (p.Val228=)
c.216G>T (p.Val72=)
COSMIC
20g.6778583G>ACA408258875BMP2c.685G>A (p.Glu229Lys)
c.217G>A (p.Glu73Lys)
gnomAD v4
20g.6778583G>CCA408258877BMP2c.685G>C (p.Glu229Gln)
c.217G>C (p.Glu73Gln)
20g.6778583G>TCA408258876BMP2c.685G>T (p.Glu229Ter)
c.217G>T (p.Glu73Ter)
ClinVar
20g.6778584A>CCA408258878BMP2c.686A>C (p.Glu229Ala)
c.218A>C (p.Glu73Ala)
20g.6778584A>GCA408258879BMP2c.686A>G (p.Glu229Gly)
c.218A>G (p.Glu73Gly)
20g.6778584A>TCA408258880BMP2c.686A>T (p.Glu229Val)
c.218A>T (p.Glu73Val)
20g.6778585A=CA2348112184BMP2c.687A= (p.Glu229=)
c.219A= (p.Glu73=)
20g.6778585A>CCA408258881BMP2c.687A>C (p.Glu229Asp)
c.219A>C (p.Glu73Asp)
20g.6778585A>GCA509818077BMP2c.687A>G (p.Glu229=)
c.219A>G (p.Glu73=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778585A>TCA408258882BMP2c.687A>T (p.Glu229Asp)
c.219A>T (p.Glu73Asp)
20g.6778586G>ACA408258883BMP2c.688G>A (p.Val230Met)
c.220G>A (p.Val74Met)
20g.6778586G>CCA408258884BMP2c.688G>C (p.Val230Leu)
c.220G>C (p.Val74Leu)
20g.6778586G>TCA408258885BMP2c.688G>T (p.Val230Leu)
c.220G>T (p.Val74Leu)
20g.6778587T>ACA408258886BMP2c.689T>A (p.Val230Glu)
c.221T>A (p.Val74Glu)
20g.6778587T>CCA408258887BMP2c.689T>C (p.Val230Ala)
c.221T>C (p.Val74Ala)
gnomAD v4 COSMIC
20g.6778587T>GCA408258888BMP2c.689T>G (p.Val230Gly)
c.221T>G (p.Val74Gly)
20g.6778588G>ACA509818084BMP2c.690G>A (p.Val230=)
c.222G>A (p.Val74=)
20g.6778588G>CCA509818085BMP2c.690G>C (p.Val230=)
c.222G>C (p.Val74=)
20g.6778588G>TCA509818087BMP2c.690G>T (p.Val230=)
c.222G>T (p.Val74=)
20g.6778589G>ACA408258891BMP2c.691G>A (p.Ala231Thr)
c.223G>A (p.Ala75Thr)
gnomAD v4
20g.6778589G>CCA408258890BMP2c.691G>C (p.Ala231Pro)
c.223G>C (p.Ala75Pro)
20g.6778589G>TCA408258889BMP2c.691G>T (p.Ala231Ser)
c.223G>T (p.Ala75Ser)
COSMIC
20g.6778590C>ACA408258892BMP2c.692C>A (p.Ala231Asp)
c.224C>A (p.Ala75Asp)
20g.6778590C=CA2348112185BMP2c.692C= (p.Ala231=)
c.224C= (p.Ala75=)
20g.6778590C>GCA408258893BMP2c.692C>G (p.Ala231Gly)
c.224C>G (p.Ala75Gly)
20g.6778590C>TCA408258894BMP2c.692C>T (p.Ala231Val)
c.224C>T (p.Ala75Val)
dbSNP gnomAD v3 gnomAD v4
20g.6778591C>ACA509818095BMP2c.693C>A (p.Ala231=)
c.225C>A (p.Ala75=)
20g.6778591C=CA2348112186BMP2c.693C= (p.Ala231=)
c.225C= (p.Ala75=)
20g.6778591C>GCA509818097BMP2c.693C>G (p.Ala231=)
c.225C>G (p.Ala75=)
gnomAD v4
20g.6778591C>TCA9758733BMP2c.693C>T (p.Ala231=)
c.225C>T (p.Ala75=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778592C>ACA408258895BMP2c.694C>A (p.His232Asn)
c.226C>A (p.His76Asn)
20g.6778592C>GCA408258896BMP2c.694C>G (p.His232Asp)
c.226C>G (p.His76Asp)
20g.6778592C>TCA408258897BMP2c.694C>T (p.His232Tyr)
c.226C>T (p.His76Tyr)
gnomAD v4
20g.6778593A=CA2348112187BMP2c.695A= (p.His232=)
c.227A= (p.His76=)
20g.6778593A>CCA408258898BMP2c.695A>C (p.His232Pro)
c.227A>C (p.His76Pro)
20g.6778593A>GCA408258899BMP2c.695A>G (p.His232Arg)
c.227A>G (p.His76Arg)
gnomAD v4
20g.6778593A>TCA9758734BMP2c.695A>T (p.His232Leu)
c.227A>T (p.His76Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778594C>ACA408258900BMP2c.696C>A (p.His232Gln)
c.228C>A (p.His76Gln)
20g.6778594C>GCA408258901BMP2c.696C>G (p.His232Gln)
c.228C>G (p.His76Gln)
20g.6778594C>TCA509818108BMP2c.696C>T (p.His232=)
c.228C>T (p.His76=)
20g.6778595T>ACA408258903BMP2c.697T>A (p.Leu233Met)
c.229T>A (p.Leu77Met)
20g.6778595T>CCA509818112BMP2c.697T>C (p.Leu233=)
c.229T>C (p.Leu77=)
20g.6778595T>GCA408258902BMP2c.697T>G (p.Leu233Val)
c.229T>G (p.Leu77Val)
dbSNP gnomAD v2 gnomAD v4
20g.6778595T=CA2348112188BMP2c.697T= (p.Leu233=)
c.229T= (p.Leu77=)
20g.6778596T>ACA408258904BMP2c.698T>A (p.Leu233Ter)
c.230T>A (p.Leu77Ter)
20g.6778596T>CCA408258905BMP2c.698T>C (p.Leu233Ser)
c.230T>C (p.Leu77Ser)
20g.6778596T>GCA408258906BMP2c.698T>G (p.Leu233Trp)
c.230T>G (p.Leu77Trp)
20g.6778597G>ACA509818119BMP2c.699G>A (p.Leu233=)
c.231G>A (p.Leu77=)
gnomAD v4
20g.6778597G>CCA408258907BMP2c.699G>C (p.Leu233Phe)
c.231G>C (p.Leu77Phe)
20g.6778597G>TCA408258908BMP2c.699G>T (p.Leu233Phe)
c.231G>T (p.Leu77Phe)
20g.6778598G>ACA408258909BMP2c.700G>A (p.Glu234Lys)
c.232G>A (p.Glu78Lys)
20g.6778598G>CCA408258910BMP2c.700G>C (p.Glu234Gln)
c.232G>C (p.Glu78Gln)
20g.6778598G>TCA408258911BMP2c.700G>T (p.Glu234Ter)
c.232G>T (p.Glu78Ter)
20g.6778599A=CA2348112189BMP2c.701A= (p.Glu234=)
c.233A= (p.Glu78=)
20g.6778599A>CCA408258912BMP2c.701A>C (p.Glu234Ala)
c.233A>C (p.Glu78Ala)
20g.6778599A>GCA408258913BMP2c.701A>G (p.Glu234Gly)
c.233A>G (p.Glu78Gly)
ClinVar dbSNP gnomAD v4
20g.6778599A>TCA408258914BMP2c.701A>T (p.Glu234Val)
c.233A>T (p.Glu78Val)
20g.6778600G>ACA509818130BMP2c.702G>A (p.Glu234=)
c.234G>A (p.Glu78=)
gnomAD v4
20g.6778600G>CCA408258915BMP2c.702G>C (p.Glu234Asp)
c.234G>C (p.Glu78Asp)
20g.6778600G>TCA408258916BMP2c.702G>T (p.Glu234Asp)
c.234G>T (p.Glu78Asp)
20g.6778601G>ACA408258919BMP2c.703G>A (p.Glu235Lys)
c.235G>A (p.Glu79Lys)
COSMIC
20g.6778601G>CCA408258918BMP2c.703G>C (p.Glu235Gln)
c.235G>C (p.Glu79Gln)
20g.6778601G>TCA408258917BMP2c.703G>T (p.Glu235Ter)
c.235G>T (p.Glu79Ter)
20g.6778602A>CCA408258920BMP2c.704A>C (p.Glu235Ala)
c.236A>C (p.Glu79Ala)
20g.6778602A>GCA408258921BMP2c.704A>G (p.Glu235Gly)
c.236A>G (p.Glu79Gly)
20g.6778602A>TCA408258922BMP2c.704A>T (p.Glu235Val)
c.236A>T (p.Glu79Val)
20g.6778603_6778606delCA2529273454BMP2c.705_708del (p.Glu235AspfsTer11)
c.237_240del (p.Glu79AspfsTer11)
20g.6778603G>ACA509818135BMP2c.705G>A (p.Glu235=)
c.237G>A (p.Glu79=)
20g.6778603G>CCA408258923BMP2c.705G>C (p.Glu235Asp)
c.237G>C (p.Glu79Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.6778603G=CA2348112190BMP2c.705G= (p.Glu235=)
c.237G= (p.Glu79=)
20g.6778603G>TCA408258924BMP2c.705G>T (p.Glu235Asp)
c.237G>T (p.Glu79Asp)
dbSNP gnomAD v2
20g.6778604A=CA2348112191BMP2c.706A= (p.Lys236=)
c.238A= (p.Lys80=)
20g.6778604A>CCA408258925BMP2c.706A>C (p.Lys236Gln)
c.238A>C (p.Lys80Gln)
20g.6778604A>GCA408258926BMP2c.706A>G (p.Lys236Glu)
c.238A>G (p.Lys80Glu)
20g.6778604A>TCA408258927BMP2c.706A>T (p.Lys236Ter)
c.238A>T (p.Lys80Ter)
20g.6778605A>CCA408258928BMP2c.707A>C (p.Lys236Thr)
c.239A>C (p.Lys80Thr)
20g.6778605A>GCA408258929BMP2c.707A>G (p.Lys236Arg)
c.239A>G (p.Lys80Arg)
20g.6778605A>TCA408258930BMP2c.707A>T (p.Lys236Ile)
c.239A>T (p.Lys80Ile)
20g.6778607_6778609dupCA9758735BMP2c.709_711dup (p.Gln237_Gly238insGln)
c.241_243dup (p.Gln81_Gly82insGln)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778606A>CCA408258931BMP2c.708A>C (p.Lys236Asn)
c.240A>C (p.Lys80Asn)
20g.6778606A>GCA509818150BMP2c.708A>G (p.Lys236=)
c.240A>G (p.Lys80=)
gnomAD v4
20g.6778606A>TCA408258932BMP2c.708A>T (p.Lys236Asn)
c.240A>T (p.Lys80Asn)
20g.6778607C>ACA408258934BMP2c.709C>A (p.Gln237Lys)
c.241C>A (p.Gln81Lys)
20g.6778607C>GCA408258935BMP2c.709C>G (p.Gln237Glu)
c.241C>G (p.Gln81Glu)
20g.6778607C>TCA408258933BMP2c.709C>T (p.Gln237Ter)
c.241C>T (p.Gln81Ter)
20g.6778608A=CA2348112192BMP2c.710A= (p.Gln237=)
c.242A= (p.Gln81=)
20g.6778608A>CCA408258936BMP2c.710A>C (p.Gln237Pro)
c.242A>C (p.Gln81Pro)
20g.6778608A>GCA9758736BMP2c.710A>G (p.Gln237Arg)
c.242A>G (p.Gln81Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778608A>TCA408258937BMP2c.710A>T (p.Gln237Leu)
c.242A>T (p.Gln81Leu)
20g.6778608_6778609insGCCCGGCA2524765383BMP2c.710_711insGCCCGG (p.Gln237_Gly238insProGly)
c.242_243insGCCCGG (p.Gln81_Gly82insProGly)
20g.6778609A>CCA408258938BMP2c.711A>C (p.Gln237His)
c.243A>C (p.Gln81His)
20g.6778609A>GCA509818164BMP2c.711A>G (p.Gln237=)
c.243A>G (p.Gln81=)
20g.6778609A>TCA408258939BMP2c.711A>T (p.Gln237His)
c.243A>T (p.Gln81His)
20g.6778610G>ACA408258940BMP2c.712G>A (p.Gly238Ser)
c.244G>A (p.Gly82Ser)
dbSNP gnomAD v4
20g.6778610G>CCA408258941BMP2c.712G>C (p.Gly238Arg)
c.244G>C (p.Gly82Arg)
20g.6778610G=CA2348112193BMP2c.712G= (p.Gly238=)
c.244G= (p.Gly82=)
20g.6778610G>TCA408258942BMP2c.712G>T (p.Gly238Cys)
c.244G>T (p.Gly82Cys)
gnomAD v4
20g.6778611G>ACA408258943BMP2c.713G>A (p.Gly238Asp)
c.245G>A (p.Gly82Asp)
gnomAD v4
20g.6778611G>CCA408258944BMP2c.713G>C (p.Gly238Ala)
c.245G>C (p.Gly82Ala)
dbSNP gnomAD v2 gnomAD v4
20g.6778611G=CA2348112194BMP2c.713G= (p.Gly238=)
c.245G= (p.Gly82=)
20g.6778611G>TCA408258945BMP2c.713G>T (p.Gly238Val)
c.245G>T (p.Gly82Val)
gnomAD v4
20g.6778613_6778614delCA2513755564BMP2c.715_716del (p.Val239LeufsTer6)
c.247_248del (p.Val83LeufsTer6)
20g.6778612T>ACA509818172BMP2c.714T>A (p.Gly238=)
c.246T>A (p.Gly82=)
COSMIC
20g.6778612T>CCA509818177BMP2c.714T>C (p.Gly238=)
c.246T>C (p.Gly82=)
gnomAD v4
20g.6778612T>GCA509818178BMP2c.714T>G (p.Gly238=)
c.246T>G (p.Gly82=)
20g.6778613G>ACA408258948BMP2c.715G>A (p.Val239Ile)
c.247G>A (p.Val83Ile)
gnomAD v4
20g.6778613G>CCA408258947BMP2c.715G>C (p.Val239Leu)
c.247G>C (p.Val83Leu)
20g.6778613G>TCA408258946BMP2c.715G>T (p.Val239Phe)
c.247G>T (p.Val83Phe)
20g.6778614T>ACA408258949BMP2c.716T>A (p.Val239Asp)
c.248T>A (p.Val83Asp)
20g.6778614T>CCA408258950BMP2c.716T>C (p.Val239Ala)
c.248T>C (p.Val83Ala)
20g.6778614T>GCA408258951BMP2c.716T>G (p.Val239Gly)
c.248T>G (p.Val83Gly)
dbSNP
20g.6778614T=CA2348112195BMP2c.716T= (p.Val239=)
c.248T= (p.Val83=)
20g.6778615C>ACA509818191BMP2c.717C>A (p.Val239=)
c.249C>A (p.Val83=)
20g.6778615C=CA2348112196BMP2c.717C= (p.Val239=)
c.249C= (p.Val83=)
20g.6778615C>GCA509818190BMP2c.717C>G (p.Val239=)
c.249C>G (p.Val83=)
20g.6778615C>TCA509818188BMP2c.717C>T (p.Val239=)
c.249C>T (p.Val83=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778616T>ACA408258952BMP2c.718T>A (p.Ser240Thr)
c.250T>A (p.Ser84Thr)
20g.6778616T>CCA408258953BMP2c.718T>C (p.Ser240Pro)
c.250T>C (p.Ser84Pro)
20g.6778616T>GCA408258954BMP2c.718T>G (p.Ser240Ala)
c.250T>G (p.Ser84Ala)
20g.6778617C>ACA408258955BMP2c.719C>A (p.Ser240Tyr)
c.251C>A (p.Ser84Tyr)
20g.6778617C>GCA408258956BMP2c.719C>G (p.Ser240Cys)
c.251C>G (p.Ser84Cys)
20g.6778617C>TCA408258957BMP2c.719C>T (p.Ser240Phe)
c.251C>T (p.Ser84Phe)
20g.6778618C>ACA509818201BMP2c.720C>A (p.Ser240=)
c.252C>A (p.Ser84=)
20g.6778618C>GCA509818203BMP2c.720C>G (p.Ser240=)
c.252C>G (p.Ser84=)
gnomAD v4
20g.6778618C>TCA509818205BMP2c.720C>T (p.Ser240=)
c.252C>T (p.Ser84=)
gnomAD v4
20g.6778619A>CCA408258958BMP2c.721A>C (p.Lys241Gln)
c.253A>C (p.Lys85Gln)
20g.6778619A>GCA408258959BMP2c.721A>G (p.Lys241Glu)
c.253A>G (p.Lys85Glu)
20g.6778619A>TCA408258960BMP2c.721A>T (p.Lys241Ter)
c.253A>T (p.Lys85Ter)
ClinVar
20g.6778620A=CA2348112197BMP2c.722A= (p.Lys241=)
c.254A= (p.Lys85=)
20g.6778620A>CCA408258963BMP2c.722A>C (p.Lys241Thr)
c.254A>C (p.Lys85Thr)
dbSNP gnomAD v2 gnomAD v4
20g.6778620A>GCA408258962BMP2c.722A>G (p.Lys241Arg)
c.254A>G (p.Lys85Arg)
20g.6778620A>TCA408258961BMP2c.722A>T (p.Lys241Met)
c.254A>T (p.Lys85Met)
20g.6778621G>ACA509818215BMP2c.723G>A (p.Lys241=)
c.255G>A (p.Lys85=)
20g.6778621G>CCA408258964BMP2c.723G>C (p.Lys241Asn)
c.255G>C (p.Lys85Asn)
dbSNP gnomAD v4
20g.6778621G=CA2348112198BMP2c.723G= (p.Lys241=)
c.255G= (p.Lys85=)
20g.6778621G>TCA408258965BMP2c.723G>T (p.Lys241Asn)
c.255G>T (p.Lys85Asn)
20g.6778622A>CCA509818220BMP2c.724A>C (p.Arg242=)
c.256A>C (p.Arg86=)
gnomAD v4
20g.6778622A>GCA408258966BMP2c.724A>G (p.Arg242Gly)
c.256A>G (p.Arg86Gly)
20g.6778622A>TCA408258967BMP2c.724A>T (p.Arg242Ter)
c.256A>T (p.Arg86Ter)
20g.6778623G>ACA408258968BMP2c.725G>A (p.Arg242Lys)
c.257G>A (p.Arg86Lys)
20g.6778623G>CCA408258969BMP2c.725G>C (p.Arg242Thr)
c.257G>C (p.Arg86Thr)
20g.6778623G>TCA408258970BMP2c.725G>T (p.Arg242Ile)
c.257G>T (p.Arg86Ile)
gnomAD v4
20g.6778624A>CCA408258971BMP2c.726A>C (p.Arg242Ser)
c.258A>C (p.Arg86Ser)
20g.6778624A>GCA509818228BMP2c.726A>G (p.Arg242=)
c.258A>G (p.Arg86=)
20g.6778624A>TCA408258972BMP2c.726A>T (p.Arg242Ser)
c.258A>T (p.Arg86Ser)
20g.6778625C>ACA408258973BMP2c.727C>A (p.His243Asn)
c.259C>A (p.His87Asn)
20g.6778625C>GCA408258974BMP2c.727C>G (p.His243Asp)
c.259C>G (p.His87Asp)
20g.6778625C>TCA408258975BMP2c.727C>T (p.His243Tyr)
c.259C>T (p.His87Tyr)
gnomAD v4
20g.6778626A>CCA408258976BMP2c.728A>C (p.His243Pro)
c.260A>C (p.His87Pro)
20g.6778626A>GCA408258977BMP2c.728A>G (p.His243Arg)
c.260A>G (p.His87Arg)
20g.6778626A>TCA408258978BMP2c.728A>T (p.His243Leu)
c.260A>T (p.His87Leu)
20g.6778627T>ACA408258979BMP2c.729T>A (p.His243Gln)
c.261T>A (p.His87Gln)
20g.6778627T>CCA509818240BMP2c.729T>C (p.His243=)
c.261T>C (p.His87=)
20g.6778627T>GCA408258980BMP2c.729T>G (p.His243Gln)
c.261T>G (p.His87Gln)
20g.6778628G>ACA408258981BMP2c.730G>A (p.Val244Ile)
c.262G>A (p.Val88Ile)
20g.6778628G>CCA408258983BMP2c.730G>C (p.Val244Leu)
c.262G>C (p.Val88Leu)
20g.6778628G>TCA408258982BMP2c.730G>T (p.Val244Phe)
c.262G>T (p.Val88Phe)
20g.6778629T>ACA408258984BMP2c.731T>A (p.Val244Asp)
c.263T>A (p.Val88Asp)
20g.6778629T>CCA408258985BMP2c.731T>C (p.Val244Ala)
c.263T>C (p.Val88Ala)
20g.6778629T>GCA408258986BMP2c.731T>G (p.Val244Gly)
c.263T>G (p.Val88Gly)
20g.6778630T>ACA509818250BMP2c.732T>A (p.Val244=)
c.264T>A (p.Val88=)
20g.6778630T>CCA509818251BMP2c.732T>C (p.Val244=)
c.264T>C (p.Val88=)
20g.6778630T>GCA509818254BMP2c.732T>G (p.Val244=)
c.264T>G (p.Val88=)
20g.6778630_6778631insTTTTACA2530080097BMP2c.732_733insTTTTA (p.Arg245PhefsTer2)
c.264_265insTTTTA (p.Arg89PhefsTer2)
20g.6778631A>CCA509818256BMP2c.733A>C (p.Arg245=)
c.265A>C (p.Arg89=)
20g.6778631A>GCA408258987BMP2c.733A>G (p.Arg245Gly)
c.265A>G (p.Arg89Gly)
20g.6778631A>TCA408258988BMP2c.733A>T (p.Arg245Trp)
c.265A>T (p.Arg89Trp)
20g.6778632G>ACA408258989BMP2c.734G>A (p.Arg245Lys)
c.266G>A (p.Arg89Lys)
dbSNP gnomAD v2 gnomAD v4
20g.6778632G>CCA408258990BMP2c.734G>C (p.Arg245Thr)
c.266G>C (p.Arg89Thr)
gnomAD v4
20g.6778632G=CA2348112199BMP2c.734G= (p.Arg245=)
c.266G= (p.Arg89=)
20g.6778632G>TCA408258991BMP2c.734G>T (p.Arg245Met)
c.266G>T (p.Arg89Met)
20g.6778633G>ACA509818257BMP2c.735G>A (p.Arg245=)
c.267G>A (p.Arg89=)
20g.6778633G>CCA408258992BMP2c.735G>C (p.Arg245Ser)
c.267G>C (p.Arg89Ser)
20g.6778633G>TCA408258993BMP2c.735G>T (p.Arg245Ser)
c.267G>T (p.Arg89Ser)
20g.6778634A>CCA408258996BMP2c.736A>C (p.Ile246Leu)
c.268A>C (p.Ile90Leu)
20g.6778634A>GCA408258995BMP2c.736A>G (p.Ile246Val)
c.268A>G (p.Ile90Val)
20g.6778634A>TCA408258994BMP2c.736A>T (p.Ile246Leu)
c.268A>T (p.Ile90Leu)
gnomAD v4
20g.6778635T>ACA408258997BMP2c.737T>A (p.Ile246Lys)
c.269T>A (p.Ile90Lys)
20g.6778635T>CCA408258998BMP2c.737T>C (p.Ile246Thr)
c.269T>C (p.Ile90Thr)
20g.6778635T>GCA408258999BMP2c.737T>G (p.Ile246Arg)
c.269T>G (p.Ile90Arg)
20g.6778636A>CCA509818258BMP2c.738A>C (p.Ile246=)
c.270A>C (p.Ile90=)
20g.6778636A>GCA408259000BMP2c.738A>G (p.Ile246Met)
c.270A>G (p.Ile90Met)
20g.6778636A>TCA509818259BMP2c.738A>T (p.Ile246=)
c.270A>T (p.Ile90=)
20g.6778637A>CCA408259001BMP2c.739A>C (p.Ser247Arg)
c.271A>C (p.Ser91Arg)
20g.6778637A>GCA408259002BMP2c.739A>G (p.Ser247Gly)
c.271A>G (p.Ser91Gly)
20g.6778637A>TCA408259003BMP2c.739A>T (p.Ser247Cys)
c.271A>T (p.Ser91Cys)
gnomAD v4
20g.6778638G>ACA408259004BMP2c.740G>A (p.Ser247Asn)
c.272G>A (p.Ser91Asn)
20g.6778638G>CCA408259006BMP2c.740G>C (p.Ser247Thr)
c.272G>C (p.Ser91Thr)
20g.6778638G>TCA408259005BMP2c.740G>T (p.Ser247Ile)
c.272G>T (p.Ser91Ile)
20g.6778639C>ACA408259007BMP2c.741C>A (p.Ser247Arg)
c.273C>A (p.Ser91Arg)
20g.6778639C>GCA408259008BMP2c.741C>G (p.Ser247Arg)
c.273C>G (p.Ser91Arg)
20g.6778639C>TCA509818260BMP2c.741C>T (p.Ser247=)
c.273C>T (p.Ser91=)
20g.6778639_6778647delCA2520944538BMP2c.741_749del (p.Ser247_Leu250delinsArg)
c.273_281del (p.Ser91_Leu94delinsArg)
20g.6778640A>CCA509818261BMP2c.742A>C (p.Arg248=)
c.274A>C (p.Arg92=)
20g.6778640A>GCA408259009BMP2c.742A>G (p.Arg248Gly)
c.274A>G (p.Arg92Gly)
20g.6778640A>TCA408259010BMP2c.742A>T (p.Arg248Trp)
c.274A>T (p.Arg92Trp)
20g.6778641G>ACA408259011BMP2c.743G>A (p.Arg248Lys)
c.275G>A (p.Arg92Lys)
20g.6778641G>CCA408259013BMP2c.743G>C (p.Arg248Thr)
c.275G>C (p.Arg92Thr)
20g.6778641G>TCA408259012BMP2c.743G>T (p.Arg248Met)
c.275G>T (p.Arg92Met)

Number of alleles fetched