Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.6778431A>CCA408258553BMP2c.533A>C (p.Lys178Thr)
c.65A>C (p.Lys22Thr)
20g.6778431A>GCA408258554BMP2c.533A>G (p.Lys178Arg)
c.65A>G (p.Lys22Arg)
20g.6778431A>TCA408258555BMP2c.533A>T (p.Lys178Ile)
c.65A>T (p.Lys22Ile)
20g.6778432A=CA2348112114BMP2c.534A= (p.Lys178=)
c.66A= (p.Lys22=)
20g.6778432A>CCA408258556BMP2c.534A>C (p.Lys178Asn)
c.66A>C (p.Lys22Asn)
dbSNP
20g.6778432A>GCA509817700BMP2c.534A>G (p.Lys178=)
c.66A>G (p.Lys22=)
20g.6778432A>TCA408258557BMP2c.534A>T (p.Lys178Asn)
c.66A>T (p.Lys22Asn)
20g.6778433C>ACA408258558BMP2c.535C>A (p.Pro179Thr)
c.67C>A (p.Pro23Thr)
20g.6778433C>GCA408258559BMP2c.535C>G (p.Pro179Ala)
c.67C>G (p.Pro23Ala)
20g.6778433C>TCA408258560BMP2c.535C>T (p.Pro179Ser)
c.67C>T (p.Pro23Ser)
gnomAD v4
20g.6778433_6778436delinsCCTGCA2348112115BMP2c.535_538delinsCCTG (p.Pro179=)
c.67_70delinsCCTG (p.Pro23=)
20g.6778434C>ACA408258561BMP2c.536C>A (p.Pro179His)
c.68C>A (p.Pro23His)
20g.6778434C=CA2348112116BMP2c.536C= (p.Pro179=)
c.68C= (p.Pro23=)
20g.6778434C>GCA408258562BMP2c.536C>G (p.Pro179Arg)
c.68C>G (p.Pro23Arg)
20g.6778434C>TCA9758696BMP2c.536C>T (p.Pro179Leu)
c.68C>T (p.Pro23Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778435_6778437delCA634802377BMP2c.537_539del (p.Ala180del)
c.69_71del (p.Ala24del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778435T>ACA509817704BMP2c.537T>A (p.Pro179=)
c.69T>A (p.Pro23=)
20g.6778435T>CCA509817706BMP2c.537T>C (p.Pro179=)
c.69T>C (p.Pro23=)
20g.6778435T>GCA509817707BMP2c.537T>G (p.Pro179=)
c.69T>G (p.Pro23=)
20g.6778436G>ACA408258565BMP2c.538G>A (p.Ala180Thr)
c.70G>A (p.Ala24Thr)
20g.6778436G>CCA408258564BMP2c.538G>C (p.Ala180Pro)
c.70G>C (p.Ala24Pro)
20g.6778436G>TCA408258563BMP2c.538G>T (p.Ala180Ser)
c.70G>T (p.Ala24Ser)
20g.6778437C>ACA408258566BMP2c.539C>A (p.Ala180Glu)
c.71C>A (p.Ala24Glu)
dbSNP
20g.6778437C=CA2348112117BMP2c.539C= (p.Ala180=)
c.71C= (p.Ala24=)
20g.6778437C>GCA408258567BMP2c.539C>G (p.Ala180Gly)
c.71C>G (p.Ala24Gly)
20g.6778437C>TCA9758697BMP2c.539C>T (p.Ala180Val)
c.71C>T (p.Ala24Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778438A=CA2348112118BMP2c.540A= (p.Ala180=)
c.72A= (p.Ala24=)
20g.6778438A>CCA509817711BMP2c.540A>C (p.Ala180=)
c.72A>C (p.Ala24=)
20g.6778438A>GCA311471919BMP2c.540A>G (p.Ala180=)
c.72A>G (p.Ala24=)
dbSNP
20g.6778438A>TCA509817713BMP2c.540A>T (p.Ala180=)
c.72A>T (p.Ala24=)
20g.6778439A>CCA408258568BMP2c.541A>C (p.Thr181Pro)
c.73A>C (p.Thr25Pro)
20g.6778439A>GCA408258569BMP2c.541A>G (p.Thr181Ala)
c.73A>G (p.Thr25Ala)
20g.6778439A>TCA408258570BMP2c.541A>T (p.Thr181Ser)
c.73A>T (p.Thr25Ser)
20g.6778440C>ACA408258571BMP2c.542C>A (p.Thr181Lys)
c.74C>A (p.Thr25Lys)
20g.6778440C=CA2348112119BMP2c.542C= (p.Thr181=)
c.74C= (p.Thr25=)
20g.6778440C>GCA408258572BMP2c.542C>G (p.Thr181Arg)
c.74C>G (p.Thr25Arg)
20g.6778440C>TCA9758698BMP2c.542C>T (p.Thr181Ile)
c.74C>T (p.Thr25Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778441A>CCA509817718BMP2c.543A>C (p.Thr181=)
c.75A>C (p.Thr25=)
20g.6778441A>GCA509817719BMP2c.543A>G (p.Thr181=)
c.75A>G (p.Thr25=)
20g.6778441A>TCA509817720BMP2c.543A>T (p.Thr181=)
c.75A>T (p.Thr25=)
20g.6778442G>ACA408258573BMP2c.544G>A (p.Ala182Thr)
c.76G>A (p.Ala26Thr)
20g.6778442G>CCA408258574BMP2c.544G>C (p.Ala182Pro)
c.76G>C (p.Ala26Pro)
dbSNP
20g.6778442G=CA2348112120BMP2c.544G= (p.Ala182=)
c.76G= (p.Ala26=)
20g.6778442G>TCA408258575BMP2c.544G>T (p.Ala182Ser)
c.76G>T (p.Ala26Ser)
20g.6778443C>ACA408258576BMP2c.545C>A (p.Ala182Asp)
c.77C>A (p.Ala26Asp)
20g.6778443C>GCA408258577BMP2c.545C>G (p.Ala182Gly)
c.77C>G (p.Ala26Gly)
gnomAD v4
20g.6778443C>TCA408258578BMP2c.545C>T (p.Ala182Val)
c.77C>T (p.Ala26Val)
20g.6778444C>ACA509817722BMP2c.546C>A (p.Ala182=)
c.78C>A (p.Ala26=)
20g.6778444C=CA2348112121BMP2c.546C= (p.Ala182=)
c.78C= (p.Ala26=)
20g.6778444C>GCA9758699BMP2c.546C>G (p.Ala182=)
c.78C>G (p.Ala26=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778444C>TCA509817724BMP2c.546C>T (p.Ala182=)
c.78C>T (p.Ala26=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778445A>CCA408258579BMP2c.547A>C (p.Asn183His)
c.79A>C (p.Asn27His)
20g.6778445A>GCA408258581BMP2c.547A>G (p.Asn183Asp)
c.79A>G (p.Asn27Asp)
20g.6778445A>TCA408258580BMP2c.547A>T (p.Asn183Tyr)
c.79A>T (p.Asn27Tyr)
20g.6778446A>CCA408258582BMP2c.548A>C (p.Asn183Thr)
c.80A>C (p.Asn27Thr)
20g.6778446A>GCA408258583BMP2c.548A>G (p.Asn183Ser)
c.80A>G (p.Asn27Ser)
20g.6778446A>TCA408258584BMP2c.548A>T (p.Asn183Ile)
c.80A>T (p.Asn27Ile)
20g.6778447C>ACA408258585BMP2c.549C>A (p.Asn183Lys)
c.81C>A (p.Asn27Lys)
20g.6778447C>GCA408258586BMP2c.549C>G (p.Asn183Lys)
c.81C>G (p.Asn27Lys)
20g.6778447C>TCA509817727BMP2c.549C>T (p.Asn183=)
c.81C>T (p.Asn27=)
dbSNP
20g.6778448T>ACA408258587BMP2c.550T>A (p.Ser184Thr)
c.82T>A (p.Ser28Thr)
20g.6778448T>CCA408258588BMP2c.550T>C (p.Ser184Pro)
c.82T>C (p.Ser28Pro)
20g.6778448T>GCA408258589BMP2c.550T>G (p.Ser184Ala)
c.82T>G (p.Ser28Ala)
20g.6778449C>ACA408258590BMP2c.551C>A (p.Ser184Ter)
c.83C>A (p.Ser28Ter)
20g.6778449C=CA2348112122BMP2c.551C= (p.Ser184=)
c.83C= (p.Ser28=)
20g.6778449C>GCA9758701BMP2c.551C>G (p.Ser184Trp)
c.83C>G (p.Ser28Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778449C>TCA9758700BMP2c.551C>T (p.Ser184Leu)
c.83C>T (p.Ser28Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778450G>ACA202299BMP2c.552G>A (p.Ser184=)
c.84G>A (p.Ser28=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778450G>CCA509817730BMP2c.552G>C (p.Ser184=)
c.84G>C (p.Ser28=)
20g.6778450G=CA2348112123BMP2c.552G= (p.Ser184=)
c.84G= (p.Ser28=)
20g.6778450G>TCA509817731BMP2c.552G>T (p.Ser184=)
c.84G>T (p.Ser28=)
20g.6778451A>CCA408258593BMP2c.553A>C (p.Lys185Gln)
c.85A>C (p.Lys29Gln)
20g.6778451A>GCA408258591BMP2c.553A>G (p.Lys185Glu)
c.85A>G (p.Lys29Glu)
20g.6778451A>TCA408258592BMP2c.553A>T (p.Lys185Ter)
c.85A>T (p.Lys29Ter)
20g.6778452A=CA2348112124BMP2c.554A= (p.Lys185=)
c.86A= (p.Lys29=)
20g.6778452A>CCA408258594BMP2c.554A>C (p.Lys185Thr)
c.86A>C (p.Lys29Thr)
20g.6778452A>GCA9758702BMP2c.554A>G (p.Lys185Arg)
c.86A>G (p.Lys29Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778452A>TCA408258595BMP2c.554A>T (p.Lys185Ile)
c.86A>T (p.Lys29Ile)
20g.6778453A>CCA408258596BMP2c.555A>C (p.Lys185Asn)
c.87A>C (p.Lys29Asn)
dbSNP
20g.6778453A>GCA509817738BMP2c.555A>G (p.Lys185=)
c.87A>G (p.Lys29=)
20g.6778453A>TCA408258597BMP2c.555A>T (p.Lys185Asn)
c.87A>T (p.Lys29Asn)
20g.6778454T>ACA408258598BMP2c.556T>A (p.Phe186Ile)
c.88T>A (p.Phe30Ile)
20g.6778454T>CCA9758703BMP2c.556T>C (p.Phe186Leu)
c.88T>C (p.Phe30Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778454T>GCA408258599BMP2c.556T>G (p.Phe186Val)
c.88T>G (p.Phe30Val)
20g.6778454T=CA2348112125BMP2c.556T= (p.Phe186=)
c.88T= (p.Phe30=)
20g.6778454_6778455delCA2815171971BMP2c.556_557del (p.Phe186ProfsTer22)
c.88_89del (p.Phe30ProfsTer22)
20g.6778455T>ACA408258600BMP2c.557T>A (p.Phe186Tyr)
c.89T>A (p.Phe30Tyr)
20g.6778455T>CCA408258601BMP2c.557T>C (p.Phe186Ser)
c.89T>C (p.Phe30Ser)
20g.6778455T>GCA408258602BMP2c.557T>G (p.Phe186Cys)
c.89T>G (p.Phe30Cys)
20g.6778456C>ACA408258604BMP2c.558C>A (p.Phe186Leu)
c.90C>A (p.Phe30Leu)
gnomAD v4
20g.6778456C>GCA408258603BMP2c.558C>G (p.Phe186Leu)
c.90C>G (p.Phe30Leu)
20g.6778456C>TCA509817747BMP2c.558C>T (p.Phe186=)
c.90C>T (p.Phe30=)
gnomAD v4 COSMIC
20g.6778457C>ACA408258605BMP2c.559C>A (p.Pro187Thr)
c.91C>A (p.Pro31Thr)
20g.6778457C>GCA408258606BMP2c.559C>G (p.Pro187Ala)
c.91C>G (p.Pro31Ala)
20g.6778457C>TCA408258607BMP2c.559C>T (p.Pro187Ser)
c.91C>T (p.Pro31Ser)
gnomAD v4
20g.6778458C>ACA408258608BMP2c.560C>A (p.Pro187His)
c.92C>A (p.Pro31His)
20g.6778458C>GCA408258609BMP2c.560C>G (p.Pro187Arg)
c.92C>G (p.Pro31Arg)
20g.6778458C>TCA408258610BMP2c.560C>T (p.Pro187Leu)
c.92C>T (p.Pro31Leu)
20g.6778459C>ACA509817752BMP2c.561C>A (p.Pro187=)
c.93C>A (p.Pro31=)
20g.6778459C=CA2348112126BMP2c.561C= (p.Pro187=)
c.93C= (p.Pro31=)
20g.6778459C>GCA509817753BMP2c.561C>G (p.Pro187=)
c.93C>G (p.Pro31=)
gnomAD v4
20g.6778459C>TCA9758704BMP2c.561C>T (p.Pro187=)
c.93C>T (p.Pro31=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778460G>ACA9758705BMP2c.562G>A (p.Val188Met)
c.94G>A (p.Val32Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778460G>CCA408258611BMP2c.562G>C (p.Val188Leu)
c.94G>C (p.Val32Leu)
20g.6778460G=CA2348112127BMP2c.562G= (p.Val188=)
c.94G= (p.Val32=)
20g.6778460G>TCA408258612BMP2c.562G>T (p.Val188Leu)
c.94G>T (p.Val32Leu)
20g.6778461T>ACA408258613BMP2c.563T>A (p.Val188Glu)
c.95T>A (p.Val32Glu)
20g.6778461T>CCA408258614BMP2c.563T>C (p.Val188Ala)
c.95T>C (p.Val32Ala)
20g.6778461T>GCA408258615BMP2c.563T>G (p.Val188Gly)
c.95T>G (p.Val32Gly)
20g.6778462G>ACA509817757BMP2c.564G>A (p.Val188=)
c.96G>A (p.Val32=)
20g.6778462G>CCA509817758BMP2c.564G>C (p.Val188=)
c.96G>C (p.Val32=)
20g.6778462G>TCA509817759BMP2c.564G>T (p.Val188=)
c.96G>T (p.Val32=)
20g.6778463A>CCA408258617BMP2c.565A>C (p.Thr189Pro)
c.97A>C (p.Thr33Pro)
20g.6778463A>GCA408258618BMP2c.565A>G (p.Thr189Ala)
c.97A>G (p.Thr33Ala)
20g.6778463A>TCA408258616BMP2c.565A>T (p.Thr189Ser)
c.97A>T (p.Thr33Ser)
gnomAD v4
20g.6778464C>ACA408258621BMP2c.566C>A (p.Thr189Asn)
c.98C>A (p.Thr33Asn)
20g.6778464C=CA2348112128BMP2c.566C= (p.Thr189=)
c.98C= (p.Thr33=)
20g.6778464C>GCA408258619BMP2c.566C>G (p.Thr189Ser)
c.98C>G (p.Thr33Ser)
dbSNP
20g.6778464C>TCA408258620BMP2c.566C>T (p.Thr189Ile)
c.98C>T (p.Thr33Ile)
20g.6778465C>ACA509817763BMP2c.567C>A (p.Thr189=)
c.99C>A (p.Thr33=)
20g.6778465C>GCA509817762BMP2c.567C>G (p.Thr189=)
c.99C>G (p.Thr33=)
gnomAD v4
20g.6778465C>TCA509817761BMP2c.567C>T (p.Thr189=)
c.99C>T (p.Thr33=)
20g.6778466A=CA2348112129BMP2c.568A= (p.Arg190=)
c.100A= (p.Arg34=)
20g.6778466A>CCA509817764BMP2c.568A>C (p.Arg190=)
c.100A>C (p.Arg34=)
dbSNP gnomAD v2 gnomAD v4
20g.6778466A>GCA408258622BMP2c.568A>G (p.Arg190Gly)
c.100A>G (p.Arg34Gly)
gnomAD v4
20g.6778466A>TCA408258623BMP2c.568A>T (p.Arg190Ter)
c.100A>T (p.Arg34Ter)
20g.6778467G>ACA311471920BMP2c.569G>A (p.Arg190Lys)
c.101G>A (p.Arg34Lys)
dbSNP
20g.6778467G>CCA408258624BMP2c.569G>C (p.Arg190Thr)
c.101G>C (p.Arg34Thr)
20g.6778467G=CA2348112130BMP2c.569G= (p.Arg190=)
c.101G= (p.Arg34=)
20g.6778467G>TCA408258625BMP2c.569G>T (p.Arg190Ile)
c.101G>T (p.Arg34Ile)
20g.6778468A=CA2348112131BMP2c.570A= (p.Arg190=)
c.102A= (p.Arg34=)
20g.6778468A>CCA408258626BMP2c.570A>C (p.Arg190Ser)
c.102A>C (p.Arg34Ser)
20g.6778468A>GCA509817765BMP2c.570A>G (p.Arg190=)
c.102A>G (p.Arg34=)
dbSNP
20g.6778468A>TCA202297BMP2c.570A>T (p.Arg190Ser)
c.102A>T (p.Arg34Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778469C>ACA408258627BMP2c.571C>A (p.Leu191Ile)
c.103C>A (p.Leu35Ile)
20g.6778469C>GCA408258628BMP2c.571C>G (p.Leu191Val)
c.103C>G (p.Leu35Val)
20g.6778469C>TCA408258629BMP2c.571C>T (p.Leu191Phe)
c.103C>T (p.Leu35Phe)
20g.6778470T>ACA408258631BMP2c.572T>A (p.Leu191His)
c.104T>A (p.Leu35His)
20g.6778470T>CCA408258632BMP2c.572T>C (p.Leu191Pro)
c.104T>C (p.Leu35Pro)
20g.6778470T>GCA408258630BMP2c.572T>G (p.Leu191Arg)
c.104T>G (p.Leu35Arg)
20g.6778471T>ACA509817767BMP2c.573T>A (p.Leu191=)
c.105T>A (p.Leu35=)
20g.6778471T>CCA509817769BMP2c.573T>C (p.Leu191=)
c.105T>C (p.Leu35=)
gnomAD v4
20g.6778471T>GCA509817768BMP2c.573T>G (p.Leu191=)
c.105T>G (p.Leu35=)
20g.6778472T>ACA408258633BMP2c.574T>A (p.Leu192Met)
c.106T>A (p.Leu36Met)
20g.6778472T>CCA9758706BMP2c.574T>C (p.Leu192=)
c.106T>C (p.Leu36=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778472T>GCA408258634BMP2c.574T>G (p.Leu192Val)
c.106T>G (p.Leu36Val)
20g.6778472T=CA2348112132BMP2c.574T= (p.Leu192=)
c.106T= (p.Leu36=)
20g.6778473T>ACA408258635BMP2c.575T>A (p.Leu192Ter)
c.107T>A (p.Leu36Ter)
20g.6778473T>CCA408258636BMP2c.575T>C (p.Leu192Ser)
c.107T>C (p.Leu36Ser)
20g.6778473T>GCA408258637BMP2c.575T>G (p.Leu192Trp)
c.107T>G (p.Leu36Trp)
20g.6778474G>ACA509817773BMP2c.576G>A (p.Leu192=)
c.108G>A (p.Leu36=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778474G>CCA408258638BMP2c.576G>C (p.Leu192Phe)
c.108G>C (p.Leu36Phe)
20g.6778474G=CA2348112133BMP2c.576G= (p.Leu192=)
c.108G= (p.Leu36=)
20g.6778474G>TCA408258639BMP2c.576G>T (p.Leu192Phe)
c.108G>T (p.Leu36Phe)
20g.6778475G>ACA408258640BMP2c.577G>A (p.Asp193Asn)
c.109G>A (p.Asp37Asn)
20g.6778475G>CCA408258641BMP2c.577G>C (p.Asp193His)
c.109G>C (p.Asp37His)
20g.6778475G>TCA408258642BMP2c.577G>T (p.Asp193Tyr)
c.109G>T (p.Asp37Tyr)
20g.6778476A>CCA408258643BMP2c.578A>C (p.Asp193Ala)
c.110A>C (p.Asp37Ala)
20g.6778476A>GCA408258644BMP2c.578A>G (p.Asp193Gly)
c.110A>G (p.Asp37Gly)
20g.6778476A>TCA408258645BMP2c.578A>T (p.Asp193Val)
c.110A>T (p.Asp37Val)
20g.6778477C>ACA408258647BMP2c.579C>A (p.Asp193Glu)
c.111C>A (p.Asp37Glu)
20g.6778477C>GCA408258646BMP2c.579C>G (p.Asp193Glu)
c.111C>G (p.Asp37Glu)
20g.6778477C>TCA509817778BMP2c.579C>T (p.Asp193=)
c.111C>T (p.Asp37=)
20g.6778478A>CCA408258648BMP2c.580A>C (p.Thr194Pro)
c.112A>C (p.Thr38Pro)
20g.6778478A>GCA408258649BMP2c.580A>G (p.Thr194Ala)
c.112A>G (p.Thr38Ala)
20g.6778478A>TCA408258650BMP2c.580A>T (p.Thr194Ser)
c.112A>T (p.Thr38Ser)
20g.6778479C>ACA408258651BMP2c.581C>A (p.Thr194Asn)
c.113C>A (p.Thr38Asn)
dbSNP gnomAD v3 gnomAD v4
20g.6778479C=CA2348112134BMP2c.581C= (p.Thr194=)
c.113C= (p.Thr38=)
20g.6778479C>GCA408258652BMP2c.581C>G (p.Thr194Ser)
c.113C>G (p.Thr38Ser)
20g.6778479C>TCA408258653BMP2c.581C>T (p.Thr194Ile)
c.113C>T (p.Thr38Ile)
20g.6778480C>ACA509817780BMP2c.582C>A (p.Thr194=)
c.114C>A (p.Thr38=)
gnomAD v4
20g.6778480C>GCA509817781BMP2c.582C>G (p.Thr194=)
c.114C>G (p.Thr38=)
20g.6778480C>TCA509817782BMP2c.582C>T (p.Thr194=)
c.114C>T (p.Thr38=)
20g.6778481A>CCA509817783BMP2c.583A>C (p.Arg195=)
c.115A>C (p.Arg39=)
gnomAD v4
20g.6778481A>GCA408258654BMP2c.583A>G (p.Arg195Gly)
c.115A>G (p.Arg39Gly)
20g.6778481A>TCA408258655BMP2c.583A>T (p.Arg195Trp)
c.115A>T (p.Arg39Trp)
20g.6778482G>ACA311471921BMP2c.584G>A (p.Arg195Lys)
c.116G>A (p.Arg39Lys)
dbSNP gnomAD v4 COSMIC
20g.6778482G>CCA408258657BMP2c.584G>C (p.Arg195Thr)
c.116G>C (p.Arg39Thr)
gnomAD v4
20g.6778482G=CA2348112135BMP2c.584G= (p.Arg195=)
c.116G= (p.Arg39=)
20g.6778482G>TCA408258656BMP2c.584G>T (p.Arg195Met)
c.116G>T (p.Arg39Met)
20g.6778483G>ACA311471922BMP2c.585G>A (p.Arg195=)
c.117G>A (p.Arg39=)
dbSNP
20g.6778483G>CCA408258658BMP2c.585G>C (p.Arg195Ser)
c.117G>C (p.Arg39Ser)
20g.6778483G=CA2348112136BMP2c.585G= (p.Arg195=)
c.117G= (p.Arg39=)
20g.6778483G>TCA408258659BMP2c.585G>T (p.Arg195Ser)
c.117G>T (p.Arg39Ser)
20g.6778484T>ACA408258660BMP2c.586T>A (p.Leu196Met)
c.118T>A (p.Leu40Met)
20g.6778484T>CCA509817785BMP2c.586T>C (p.Leu196=)
c.118T>C (p.Leu40=)
20g.6778484T>GCA408258661BMP2c.586T>G (p.Leu196Val)
c.118T>G (p.Leu40Val)
20g.6778485T>ACA408258662BMP2c.587T>A (p.Leu196Ter)
c.119T>A (p.Leu40Ter)
20g.6778485T>CCA408258664BMP2c.587T>C (p.Leu196Ser)
c.119T>C (p.Leu40Ser)
20g.6778485T>GCA408258663BMP2c.587T>G (p.Leu196Trp)
c.119T>G (p.Leu40Trp)
20g.6778486G>ACA509817786BMP2c.588G>A (p.Leu196=)
c.120G>A (p.Leu40=)
20g.6778486G>CCA408258665BMP2c.588G>C (p.Leu196Phe)
c.120G>C (p.Leu40Phe)
gnomAD v4
20g.6778486G>TCA408258666BMP2c.588G>T (p.Leu196Phe)
c.120G>T (p.Leu40Phe)
20g.6778487G>ACA408258667BMP2c.589G>A (p.Val197Met)
c.121G>A (p.Val41Met)
dbSNP gnomAD v3 gnomAD v4
20g.6778487G>CCA9758707BMP2c.589G>C (p.Val197Leu)
c.121G>C (p.Val41Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778487G=CA2348112137BMP2c.589G= (p.Val197=)
c.121G= (p.Val41=)
20g.6778487G>TCA408258669BMP2c.589G>T (p.Val197Leu)
c.121G>T (p.Val41Leu)
dbSNP
20g.6778488T>ACA408258670BMP2c.590T>A (p.Val197Glu)
c.122T>A (p.Val41Glu)
20g.6778488T>CCA408258671BMP2c.590T>C (p.Val197Ala)
c.122T>C (p.Val41Ala)
20g.6778488T>GCA408258672BMP2c.590T>G (p.Val197Gly)
c.122T>G (p.Val41Gly)
20g.6778489G>ACA9758708BMP2c.591G>A (p.Val197=)
c.123G>A (p.Val41=)
dbSNP ExAC gnomAD v2
20g.6778489G>CCA509817787BMP2c.591G>C (p.Val197=)
c.123G>C (p.Val41=)
20g.6778489G=CA2348112138BMP2c.591G= (p.Val197=)
c.123G= (p.Val41=)
20g.6778489G>TCA509817789BMP2c.591G>T (p.Val197=)
c.123G>T (p.Val41=)
20g.6778490A>CCA408258673BMP2c.592A>C (p.Asn198His)
c.124A>C (p.Asn42His)
20g.6778490A>GCA408258674BMP2c.592A>G (p.Asn198Asp)
c.124A>G (p.Asn42Asp)
20g.6778490A>TCA408258675BMP2c.592A>T (p.Asn198Tyr)
c.124A>T (p.Asn42Tyr)
20g.6778491A>CCA408258678BMP2c.593A>C (p.Asn198Thr)
c.125A>C (p.Asn42Thr)
20g.6778491A>GCA408258676BMP2c.593A>G (p.Asn198Ser)
c.125A>G (p.Asn42Ser)
20g.6778491A>TCA408258677BMP2c.593A>T (p.Asn198Ile)
c.125A>T (p.Asn42Ile)
20g.6778492T>ACA408258679BMP2c.594T>A (p.Asn198Lys)
c.126T>A (p.Asn42Lys)
20g.6778492T>CCA509817794BMP2c.594T>C (p.Asn198=)
c.126T>C (p.Asn42=)
20g.6778492T>GCA408258680BMP2c.594T>G (p.Asn198Lys)
c.126T>G (p.Asn42Lys)
20g.6778493C>ACA408258681BMP2c.595C>A (p.Gln199Lys)
c.127C>A (p.Gln43Lys)
20g.6778493C>GCA408258682BMP2c.595C>G (p.Gln199Glu)
c.127C>G (p.Gln43Glu)
20g.6778493C>TCA408258683BMP2c.595C>T (p.Gln199Ter)
c.127C>T (p.Gln43Ter)
20g.6778494A>CCA408258684BMP2c.596A>C (p.Gln199Pro)
c.128A>C (p.Gln43Pro)
20g.6778494A>GCA408258685BMP2c.596A>G (p.Gln199Arg)
c.128A>G (p.Gln43Arg)
20g.6778494A>TCA408258686BMP2c.596A>T (p.Gln199Leu)
c.128A>T (p.Gln43Leu)
20g.6778495G>ACA9758709BMP2c.597G>A (p.Gln199=)
c.129G>A (p.Gln43=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778495G>CCA408258687BMP2c.597G>C (p.Gln199His)
c.129G>C (p.Gln43His)
20g.6778495G=CA2348112139BMP2c.597G= (p.Gln199=)
c.129G= (p.Gln43=)
20g.6778495G>TCA408258688BMP2c.597G>T (p.Gln199His)
c.129G>T (p.Gln43His)
20g.6778496A>CCA408258689BMP2c.598A>C (p.Asn200His)
c.130A>C (p.Asn44His)
20g.6778496A>GCA408258690BMP2c.598A>G (p.Asn200Asp)
c.130A>G (p.Asn44Asp)
20g.6778496A>TCA408258691BMP2c.598A>T (p.Asn200Tyr)
c.130A>T (p.Asn44Tyr)
20g.6778497A>CCA408258693BMP2c.599A>C (p.Asn200Thr)
c.131A>C (p.Asn44Thr)
20g.6778497A>GCA408258694BMP2c.599A>G (p.Asn200Ser)
c.131A>G (p.Asn44Ser)
20g.6778497A>TCA408258692BMP2c.599A>T (p.Asn200Ile)
c.131A>T (p.Asn44Ile)
20g.6778498T>ACA408258695BMP2c.600T>A (p.Asn200Lys)
c.132T>A (p.Asn44Lys)
dbSNP gnomAD v2 gnomAD v4
20g.6778498T>CCA509817807BMP2c.600T>C (p.Asn200=)
c.132T>C (p.Asn44=)
20g.6778498T>GCA408258696BMP2c.600T>G (p.Asn200Lys)
c.132T>G (p.Asn44Lys)
gnomAD v4
20g.6778498T=CA2348112140BMP2c.600T= (p.Asn200=)
c.132T= (p.Asn44=)
20g.6778499G>ACA408258697BMP2c.601G>A (p.Ala201Thr)
c.133G>A (p.Ala45Thr)
20g.6778499G>CCA408258698BMP2c.601G>C (p.Ala201Pro)
c.133G>C (p.Ala45Pro)
20g.6778499G>TCA408258699BMP2c.601G>T (p.Ala201Ser)
c.133G>T (p.Ala45Ser)
20g.6778500C>ACA408258702BMP2c.602C>A (p.Ala201Glu)
c.134C>A (p.Ala45Glu)
20g.6778500C>GCA408258700BMP2c.602C>G (p.Ala201Gly)
c.134C>G (p.Ala45Gly)
20g.6778500C>TCA408258701BMP2c.602C>T (p.Ala201Val)
c.134C>T (p.Ala45Val)
20g.6778501A>CCA509817814BMP2c.603A>C (p.Ala201=)
c.135A>C (p.Ala45=)
20g.6778501A>GCA509817813BMP2c.603A>G (p.Ala201=)
c.135A>G (p.Ala45=)
20g.6778501A>TCA509817812BMP2c.603A>T (p.Ala201=)
c.135A>T (p.Ala45=)
20g.6778502A=CA2348112141BMP2c.604A= (p.Ser202=)
c.136A= (p.Ser46=)
20g.6778502A>CCA408258703BMP2c.604A>C (p.Ser202Arg)
c.136A>C (p.Ser46Arg)
20g.6778502A>GCA9758710BMP2c.604A>G (p.Ser202Gly)
c.136A>G (p.Ser46Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778502A>TCA408258704BMP2c.604A>T (p.Ser202Cys)
c.136A>T (p.Ser46Cys)
20g.6778503G>ACA408258705BMP2c.605G>A (p.Ser202Asn)
c.137G>A (p.Ser46Asn)
dbSNP
20g.6778503G>CCA408258706BMP2c.605G>C (p.Ser202Thr)
c.137G>C (p.Ser46Thr)
20g.6778503G=CA2348112142BMP2c.605G= (p.Ser202=)
c.137G= (p.Ser46=)
20g.6778503G>TCA408258707BMP2c.605G>T (p.Ser202Ile)
c.137G>T (p.Ser46Ile)
20g.6778504C>ACA408258708BMP2c.606C>A (p.Ser202Arg)
c.138C>A (p.Ser46Arg)
20g.6778504C>GCA408258709BMP2c.606C>G (p.Ser202Arg)
c.138C>G (p.Ser46Arg)
20g.6778504C>TCA509817839BMP2c.606C>T (p.Ser202=)
c.138C>T (p.Ser46=)
20g.6778505A=CA2348112143BMP2c.607A= (p.Arg203=)
c.139A= (p.Arg47=)
20g.6778505A>CCA509817840BMP2c.607A>C (p.Arg203=)
c.139A>C (p.Arg47=)
20g.6778505A>GCA408258710BMP2c.607A>G (p.Arg203Gly)
c.139A>G (p.Arg47Gly)
dbSNP gnomAD v4
20g.6778505A>TCA408258711BMP2c.607A>T (p.Arg203Trp)
c.139A>T (p.Arg47Trp)
20g.6778506G>ACA9758711BMP2c.608G>A (p.Arg203Lys)
c.140G>A (p.Arg47Lys)
dbSNP ExAC gnomAD v2
20g.6778506G>CCA408258712BMP2c.608G>C (p.Arg203Thr)
c.140G>C (p.Arg47Thr)
20g.6778506G=CA2348112144BMP2c.608G= (p.Arg203=)
c.140G= (p.Arg47=)
20g.6778506G>TCA408258713BMP2c.608G>T (p.Arg203Met)
c.140G>T (p.Arg47Met)
COSMIC
20g.6778507G>ACA509817846BMP2c.609G>A (p.Arg203=)
c.141G>A (p.Arg47=)
dbSNP gnomAD v4
20g.6778507G>CCA408258714BMP2c.609G>C (p.Arg203Ser)
c.141G>C (p.Arg47Ser)
20g.6778507G=CA2348112145BMP2c.609G= (p.Arg203=)
c.141G= (p.Arg47=)
20g.6778507G>TCA9758712BMP2c.609G>T (p.Arg203Ser)
c.141G>T (p.Arg47Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778508T>ACA408258715BMP2c.610T>A (p.Trp204Arg)
c.142T>A (p.Trp48Arg)
20g.6778508T>CCA408258716BMP2c.610T>C (p.Trp204Arg)
c.142T>C (p.Trp48Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778508T>GCA408258717BMP2c.610T>G (p.Trp204Gly)
c.142T>G (p.Trp48Gly)
20g.6778508T=CA2348112146BMP2c.610T= (p.Trp204=)
c.142T= (p.Trp48=)
20g.6778509G>ACA408258718BMP2c.611G>A (p.Trp204Ter)
c.143G>A (p.Trp48Ter)
20g.6778509G>CCA408258719BMP2c.611G>C (p.Trp204Ser)
c.143G>C (p.Trp48Ser)
20g.6778509G>TCA408258720BMP2c.611G>T (p.Trp204Leu)
c.143G>T (p.Trp48Leu)
20g.6778509_6778522delinsGGGAAAGTTTTGATCA2348112147BMP2c.611_624delinsGGGAAAGTTTTGAT (p.Trp204=)
c.143_156delinsGGGAAAGTTTTGAT (p.Trp48=)
20g.6778510G>ACA408258723BMP2c.612G>A (p.Trp204Ter)
c.144G>A (p.Trp48Ter)
20g.6778510G>CCA408258721BMP2c.612G>C (p.Trp204Cys)
c.144G>C (p.Trp48Cys)
20g.6778510G>TCA408258722BMP2c.612G>T (p.Trp204Cys)
c.144G>T (p.Trp48Cys)
20g.6778511_6778523delCA1139666637BMP2c.613_625del (p.Glu205SerfsTer5)
c.145_157del (p.Glu49SerfsTer5)
ClinVar dbSNP
20g.6778511G>ACA408258724BMP2c.613G>A (p.Glu205Lys)
c.145G>A (p.Glu49Lys)
20g.6778511G>CCA408258725BMP2c.613G>C (p.Glu205Gln)
c.145G>C (p.Glu49Gln)
20g.6778511G>TCA408258726BMP2c.613G>T (p.Glu205Ter)
c.145G>T (p.Glu49Ter)
ClinVar
20g.6778512A>CCA408258727BMP2c.614A>C (p.Glu205Ala)
c.146A>C (p.Glu49Ala)
20g.6778512A>GCA408258728BMP2c.614A>G (p.Glu205Gly)
c.146A>G (p.Glu49Gly)
20g.6778512A>TCA408258729BMP2c.614A>T (p.Glu205Val)
c.146A>T (p.Glu49Val)
20g.6778513A=CA2348112148BMP2c.615A= (p.Glu205=)
c.147A= (p.Glu49=)
20g.6778513A>CCA408258730BMP2c.615A>C (p.Glu205Asp)
c.147A>C (p.Glu49Asp)
20g.6778513A>GCA9758713BMP2c.615A>G (p.Glu205=)
c.147A>G (p.Glu49=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778513A>TCA408258731BMP2c.615A>T (p.Glu205Asp)
c.147A>T (p.Glu49Asp)
20g.6778514A>CCA408258732BMP2c.616A>C (p.Ser206Arg)
c.148A>C (p.Ser50Arg)
gnomAD v4
20g.6778514A>GCA408258733BMP2c.616A>G (p.Ser206Gly)
c.148A>G (p.Ser50Gly)
20g.6778514A>TCA408258734BMP2c.616A>T (p.Ser206Cys)
c.148A>T (p.Ser50Cys)
20g.6778515G>ACA408258735BMP2c.617G>A (p.Ser206Asn)
c.149G>A (p.Ser50Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778515G>CCA408258737BMP2c.617G>C (p.Ser206Thr)
c.149G>C (p.Ser50Thr)
20g.6778515G=CA2348112149BMP2c.617G= (p.Ser206=)
c.149G= (p.Ser50=)
20g.6778515G>TCA408258736BMP2c.617G>T (p.Ser206Ile)
c.149G>T (p.Ser50Ile)
20g.6778516T>ACA408258738BMP2c.618T>A (p.Ser206Arg)
c.150T>A (p.Ser50Arg)
20g.6778516T>CCA509817860BMP2c.618T>C (p.Ser206=)
c.150T>C (p.Ser50=)
gnomAD v4
20g.6778516T>GCA408258739BMP2c.618T>G (p.Ser206Arg)
c.150T>G (p.Ser50Arg)
20g.6778517T>ACA408258740BMP2c.619T>A (p.Phe207Ile)
c.151T>A (p.Phe51Ile)
20g.6778517T>CCA408258742BMP2c.619T>C (p.Phe207Leu)
c.151T>C (p.Phe51Leu)
20g.6778517T>GCA408258741BMP2c.619T>G (p.Phe207Val)
c.151T>G (p.Phe51Val)
20g.6778518T>ACA408258743BMP2c.620T>A (p.Phe207Tyr)
c.152T>A (p.Phe51Tyr)
20g.6778518T>CCA408258744BMP2c.620T>C (p.Phe207Ser)
c.152T>C (p.Phe51Ser)
20g.6778518T>GCA408258745BMP2c.620T>G (p.Phe207Cys)
c.152T>G (p.Phe51Cys)
20g.6778519T>ACA408258746BMP2c.621T>A (p.Phe207Leu)
c.153T>A (p.Phe51Leu)
20g.6778519T>CCA509817867BMP2c.621T>C (p.Phe207=)
c.153T>C (p.Phe51=)
20g.6778519T>GCA408258747BMP2c.621T>G (p.Phe207Leu)
c.153T>G (p.Phe51Leu)
20g.6778520G>ACA408258748BMP2c.622G>A (p.Asp208Asn)
c.154G>A (p.Asp52Asn)
20g.6778520G>CCA408258749BMP2c.622G>C (p.Asp208His)
c.154G>C (p.Asp52His)
20g.6778520G>TCA408258750BMP2c.622G>T (p.Asp208Tyr)
c.154G>T (p.Asp52Tyr)
20g.6778521A=CA2348112150BMP2c.623A= (p.Asp208=)
c.155A= (p.Asp52=)
20g.6778521A>CCA408258751BMP2c.623A>C (p.Asp208Ala)
c.155A>C (p.Asp52Ala)
20g.6778521A>GCA408258752BMP2c.623A>G (p.Asp208Gly)
c.155A>G (p.Asp52Gly)
COSMIC
20g.6778521A>TCA9758714BMP2c.623A>T (p.Asp208Val)
c.155A>T (p.Asp52Val)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778522T>ACA408258754BMP2c.624T>A (p.Asp208Glu)
c.156T>A (p.Asp52Glu)
20g.6778522T>CCA9758715BMP2c.624T>C (p.Asp208=)
c.156T>C (p.Asp52=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778522T>GCA408258753BMP2c.624T>G (p.Asp208Glu)
c.156T>G (p.Asp52Glu)
20g.6778522T=CA2348112151BMP2c.624T= (p.Asp208=)
c.156T= (p.Asp52=)
20g.6778523G>ACA408258755BMP2c.625G>A (p.Val209Ile)
c.157G>A (p.Val53Ile)
20g.6778523G>CCA408258756BMP2c.625G>C (p.Val209Leu)
c.157G>C (p.Val53Leu)
20g.6778523G>TCA408258757BMP2c.625G>T (p.Val209Phe)
c.157G>T (p.Val53Phe)
20g.6778524T>ACA408258758BMP2c.626T>A (p.Val209Asp)
c.158T>A (p.Val53Asp)
20g.6778524T>CCA408258759BMP2c.626T>C (p.Val209Ala)
c.158T>C (p.Val53Ala)
20g.6778524T>GCA408258760BMP2c.626T>G (p.Val209Gly)
c.158T>G (p.Val53Gly)
20g.6778525C>ACA509817880BMP2c.627C>A (p.Val209=)
c.159C>A (p.Val53=)
20g.6778525C>GCA509817881BMP2c.627C>G (p.Val209=)
c.159C>G (p.Val53=)
20g.6778525C>TCA509817882BMP2c.627C>T (p.Val209=)
c.159C>T (p.Val53=)
20g.6778526A>CCA408258761BMP2c.628A>C (p.Thr210Pro)
c.160A>C (p.Thr54Pro)
20g.6778526A>GCA408258762BMP2c.628A>G (p.Thr210Ala)
c.160A>G (p.Thr54Ala)
20g.6778526A>TCA408258763BMP2c.628A>T (p.Thr210Ser)
c.160A>T (p.Thr54Ser)
20g.6778527C>ACA408258764BMP2c.629C>A (p.Thr210Asn)
c.161C>A (p.Thr54Asn)
20g.6778527C=CA2348112152BMP2c.629C= (p.Thr210=)
c.161C= (p.Thr54=)
20g.6778527C>GCA408258765BMP2c.629C>G (p.Thr210Ser)
c.161C>G (p.Thr54Ser)
20g.6778527C>TCA311471923BMP2c.629C>T (p.Thr210Ile)
c.161C>T (p.Thr54Ile)
dbSNP gnomAD v2 gnomAD v4
20g.6778528C>ACA509817885BMP2c.630C>A (p.Thr210=)
c.162C>A (p.Thr54=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778528C=CA2348112153BMP2c.630C= (p.Thr210=)
c.162C= (p.Thr54=)
20g.6778528C>GCA509817886BMP2c.630C>G (p.Thr210=)
c.162C>G (p.Thr54=)
20g.6778528C>TCA10587357BMP2c.630C>T (p.Thr210=)
c.162C>T (p.Thr54=)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.6778529C>ACA408258768BMP2c.631C>A (p.Pro211Thr)
c.163C>A (p.Pro55Thr)
20g.6778529C>GCA408258766BMP2c.631C>G (p.Pro211Ala)
c.163C>G (p.Pro55Ala)
gnomAD v4
20g.6778529C>TCA408258767BMP2c.631C>T (p.Pro211Ser)
c.163C>T (p.Pro55Ser)
20g.6778530C>ACA408258769BMP2c.632C>A (p.Pro211His)
c.164C>A (p.Pro55His)
20g.6778530C=CA2348112154BMP2c.632C= (p.Pro211=)
c.164C= (p.Pro55=)
20g.6778530C>GCA408258770BMP2c.632C>G (p.Pro211Arg)
c.164C>G (p.Pro55Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.6778530C>TCA408258771BMP2c.632C>T (p.Pro211Leu)
c.164C>T (p.Pro55Leu)
20g.6778531C>ACA509818015BMP2c.633C>A (p.Pro211=)
c.165C>A (p.Pro55=)
20g.6778531C=CA2348112155BMP2c.633C= (p.Pro211=)
c.165C= (p.Pro55=)
20g.6778531C>GCA9758717BMP2c.633C>G (p.Pro211=)
c.165C>G (p.Pro55=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778531C>TCA9758716BMP2c.633C>T (p.Pro211=)
c.165C>T (p.Pro55=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched