Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.119672256_119677283delCA1139532250BAG3c.509_*1del
10g.119672429G>ACA378295578BAG3c.682G>A (p.Ala228Thr)
c.508G>A (p.Ala170Thr)
10g.119672429G>CCA378295579BAG3c.682G>C (p.Ala228Pro)
c.508G>C (p.Ala170Pro)
dbSNP gnomAD v3 gnomAD v4
10g.119672429G>TCA378295580BAG3c.682G>T (p.Ala228Ser)
c.508G>T (p.Ala170Ser)
10g.119672429_119672432delCA2789704612BAG3c.682_685del (p.Ala228ArgfsTer?)
c.508_511del (p.Ala170ArgfsTer?)
10g.119672430C>ACA378295581BAG3c.683C>A (p.Ala228Asp)
c.509C>A (p.Ala170Asp)
10g.119672430C=CA1940193395BAG3c.683C= (p.Ala228=)
c.509C= (p.Ala170=)
10g.119672430C>GCA214221830BAG3c.683C>G (p.Ala228Gly)
c.509C>G (p.Ala170Gly)
dbSNP
10g.119672430C>TCA378295582BAG3c.683C>T (p.Ala228Val)
c.509C>T (p.Ala170Val)
dbSNP
10g.119672431C>ACA471739865BAG3c.684C>A (p.Ala228=)
c.510C>A (p.Ala170=)
10g.119672431C>GCA471739867BAG3c.684C>G (p.Ala228=)
c.510C>G (p.Ala170=)
10g.119672431C>TCA471739866BAG3c.684C>T (p.Ala228=)
c.510C>T (p.Ala170=)
10g.119672432C>ACA378295583BAG3c.685C>A (p.Gln229Lys)
c.511C>A (p.Gln171Lys)
10g.119672432C>GCA378295584BAG3c.685C>G (p.Gln229Glu)
c.511C>G (p.Gln171Glu)
10g.119672432C>TCA378295585BAG3c.685C>T (p.Gln229Ter)
c.511C>T (p.Gln171Ter)
10g.119672433A>CCA378295586BAG3c.686A>C (p.Gln229Pro)
c.512A>C (p.Gln171Pro)
10g.119672433A>GCA378295587BAG3c.686A>G (p.Gln229Arg)
c.512A>G (p.Gln171Arg)
10g.119672433A>TCA378295588BAG3c.686A>T (p.Gln229Leu)
c.512A>T (p.Gln171Leu)
10g.119672434G>ACA471739874BAG3c.687G>A (p.Gln229=)
c.513G>A (p.Gln171=)
gnomAD v4
10g.119672434G>CCA378295589BAG3c.687G>C (p.Gln229His)
c.513G>C (p.Gln171His)
10g.119672434G>TCA378295590BAG3c.687G>T (p.Gln229His)
c.513G>T (p.Gln171His)
10g.119672434_119672440delCA2789704616BAG3c.687_693del (p.Gln229HisfsTer?)
c.513_519del (p.Gln171HisfsTer?)
10g.119672435A=CA1940193396BAG3c.688A= (p.Lys230=)
c.514A= (p.Lys172=)
10g.119672435A>CCA378295591BAG3c.688A>C (p.Lys230Gln)
c.514A>C (p.Lys172Gln)
10g.119672435A>GCA378295592BAG3c.688A>G (p.Lys230Glu)
c.514A>G (p.Lys172Glu)
dbSNP
10g.119672435A>TCA378295593BAG3c.688A>T (p.Lys230Ter)
c.514A>T (p.Lys172Ter)
10g.119672436A=CA1940193397BAG3c.689A= (p.Lys230=)
c.515A= (p.Lys172=)
10g.119672436A>CCA378295594BAG3c.689A>C (p.Lys230Thr)
c.515A>C (p.Lys172Thr)
10g.119672436A>GCA214221835BAG3c.689A>G (p.Lys230Arg)
c.515A>G (p.Lys172Arg)
dbSNP
10g.119672436A>TCA378295595BAG3c.689A>T (p.Lys230Met)
c.515A>T (p.Lys172Met)
10g.119672437G>ACA471739882BAG3c.690G>A (p.Lys230=)
c.516G>A (p.Lys172=)
10g.119672437G>CCA378295596BAG3c.690G>C (p.Lys230Asn)
c.516G>C (p.Lys172Asn)
10g.119672437G>TCA378295597BAG3c.690G>T (p.Lys230Asn)
c.516G>T (p.Lys172Asn)
10g.119672438A>CCA378295598BAG3c.691A>C (p.Thr231Pro)
c.517A>C (p.Thr173Pro)
10g.119672438A>GCA378295599BAG3c.691A>G (p.Thr231Ala)
c.517A>G (p.Thr173Ala)
10g.119672438A>TCA378295600BAG3c.691A>T (p.Thr231Ser)
c.517A>T (p.Thr173Ser)
10g.119672439C>ACA378295602BAG3c.692C>A (p.Thr231Lys)
c.518C>A (p.Thr173Lys)
gnomAD v4
10g.119672439C=CA1940193398BAG3c.692C= (p.Thr231=)
c.518C= (p.Thr173=)
10g.119672439C>GCA378295601BAG3c.692C>G (p.Thr231Arg)
c.518C>G (p.Thr173Arg)
10g.119672439C>TCA5716394BAG3c.692C>T (p.Thr231Met)
c.518C>T (p.Thr173Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672440G>ACA5716395BAG3c.693G>A (p.Thr231=)
c.519G>A (p.Thr173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672440G>CCA5716396BAG3c.693G>C (p.Thr231=)
c.519G>C (p.Thr173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672440G=CA1940193399BAG3c.693G= (p.Thr231=)
c.519G= (p.Thr173=)
10g.119672440G>TCA471739890BAG3c.693G>T (p.Thr231=)
c.519G>T (p.Thr173=)
gnomAD v4
10g.119672441C>ACA378295603BAG3c.694C>A (p.His232Asn)
c.520C>A (p.His174Asn)
10g.119672441C>GCA378295604BAG3c.694C>G (p.His232Asp)
c.520C>G (p.His174Asp)
ClinVar dbSNP
10g.119672441C>TCA378295605BAG3c.694C>T (p.His232Tyr)
c.520C>T (p.His174Tyr)
10g.119672442A=CA1940193400BAG3c.695A= (p.His232=)
c.521A= (p.His174=)
10g.119672442A>CCA5716397BAG3c.695A>C (p.His232Pro)
c.521A>C (p.His174Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672442A>GCA378295606BAG3c.695A>G (p.His232Arg)
c.521A>G (p.His174Arg)
gnomAD v4
10g.119672442A>TCA10576777BAG3c.695A>T (p.His232Leu)
c.521A>T (p.His174Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.119672443C>ACA378295607BAG3c.696C>A (p.His232Gln)
c.522C>A (p.His174Gln)
10g.119672443C>GCA378295608BAG3c.696C>G (p.His232Gln)
c.522C>G (p.His174Gln)
10g.119672443C>TCA471739892BAG3c.696C>T (p.His232=)
c.522C>T (p.His174=)
10g.119672444delCA2789704622BAG3c.697del (p.Tyr233ThrfsTer?)
c.523del (p.Tyr175ThrfsTer?)
10g.119672444T>ACA378295609BAG3c.697T>A (p.Tyr233Asn)
c.523T>A (p.Tyr175Asn)
10g.119672444T>CCA378295610BAG3c.697T>C (p.Tyr233His)
c.523T>C (p.Tyr175His)
dbSNP
10g.119672444T>GCA378295611BAG3c.697T>G (p.Tyr233Asp)
c.523T>G (p.Tyr175Asp)
10g.119672444T=CA1940193401BAG3c.697T= (p.Tyr233=)
c.523T= (p.Tyr175=)
10g.119672445A=CA1940193402BAG3c.698A= (p.Tyr233=)
c.524A= (p.Tyr175=)
10g.119672445A>CCA378295612BAG3c.698A>C (p.Tyr233Ser)
c.524A>C (p.Tyr175Ser)
10g.119672445A>GCA378295613BAG3c.698A>G (p.Tyr233Cys)
c.524A>G (p.Tyr175Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.119672445A>TCA378295614BAG3c.698A>T (p.Tyr233Phe)
c.524A>T (p.Tyr175Phe)
10g.119672446C>ACA10581154BAG3c.699C>A (p.Tyr233Ter)
c.525C>A (p.Tyr175Ter)
ClinVar dbSNP gnomAD v4
10g.119672446C=CA1940193403BAG3c.699C= (p.Tyr233=)
c.525C= (p.Tyr175=)
10g.119672446C>GCA378295615BAG3c.699C>G (p.Tyr233Ter)
c.525C>G (p.Tyr175Ter)
10g.119672446C>TCA471739903BAG3c.699C>T (p.Tyr233=)
c.525C>T (p.Tyr175=)
10g.119672447C>ACA378295616BAG3c.700C>A (p.Pro234Thr)
c.526C>A (p.Pro176Thr)
10g.119672447C=CA1940193404BAG3c.700C= (p.Pro234=)
c.526C= (p.Pro176=)
10g.119672447C>GCA378295617BAG3c.700C>G (p.Pro234Ala)
c.526C>G (p.Pro176Ala)
10g.119672447C>TCA214221874BAG3c.700C>T (p.Pro234Ser)
c.526C>T (p.Pro176Ser)
dbSNP
10g.119672448C>ACA378295618BAG3c.701C>A (p.Pro234Gln)
c.527C>A (p.Pro176Gln)
10g.119672448C=CA1940193405BAG3c.701C= (p.Pro234=)
c.527C= (p.Pro176=)
10g.119672448C>GCA378295619BAG3c.701C>G (p.Pro234Arg)
c.527C>G (p.Pro176Arg)
10g.119672448C>TCA378295620BAG3c.701C>T (p.Pro234Leu)
c.527C>T (p.Pro176Leu)
dbSNP
10g.119672449A>CCA471739911BAG3c.702A>C (p.Pro234=)
c.528A>C (p.Pro176=)
10g.119672449A>GCA471739913BAG3c.702A>G (p.Pro234=)
c.528A>G (p.Pro176=)
ClinVar
10g.119672449A>TCA471739914BAG3c.702A>T (p.Pro234=)
c.528A>T (p.Pro176=)
10g.119672450G>ACA378295621BAG3c.703G>A (p.Ala235Thr)
c.529G>A (p.Ala177Thr)
10g.119672450G>CCA378295622BAG3c.703G>C (p.Ala235Pro)
c.529G>C (p.Ala177Pro)
10g.119672450G>TCA378295623BAG3c.703G>T (p.Ala235Ser)
c.529G>T (p.Ala177Ser)
10g.119672451C>ACA378295624BAG3c.704C>A (p.Ala235Glu)
c.530C>A (p.Ala177Glu)
10g.119672451C=CA1940193406BAG3c.704C= (p.Ala235=)
c.530C= (p.Ala177=)
10g.119672451C>GCA378295625BAG3c.704C>G (p.Ala235Gly)
c.530C>G (p.Ala177Gly)
10g.119672451C>TCA5716398BAG3c.704C>T (p.Ala235Val)
c.530C>T (p.Ala177Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672452G>ACA5716399BAG3c.705G>A (p.Ala235=)
c.531G>A (p.Ala177=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672452G>CCA471739920BAG3c.705G>C (p.Ala235=)
c.531G>C (p.Ala177=)
10g.119672452G=CA1940193407BAG3c.705G= (p.Ala235=)
c.531G= (p.Ala177=)
10g.119672452G>TCA471739921BAG3c.705G>T (p.Ala235=)
c.531G>T (p.Ala177=)
ClinVar dbSNP gnomAD v4
10g.119672453C>ACA378295626BAG3c.706C>A (p.Gln236Lys)
c.532C>A (p.Gln178Lys)
10g.119672453C>GCA378295628BAG3c.706C>G (p.Gln236Glu)
c.532C>G (p.Gln178Glu)
10g.119672453C>TCA378295627BAG3c.706C>T (p.Gln236Ter)
c.532C>T (p.Gln178Ter)
10g.119672454A=CA1940193408BAG3c.707A= (p.Gln236=)
c.533A= (p.Gln178=)
10g.119672454A>CCA378295629BAG3c.707A>C (p.Gln236Pro)
c.533A>C (p.Gln178Pro)
10g.119672454A>GCA214221883BAG3c.707A>G (p.Gln236Arg)
c.533A>G (p.Gln178Arg)
dbSNP
10g.119672454A>TCA378295630BAG3c.707A>T (p.Gln236Leu)
c.533A>T (p.Gln178Leu)
10g.119672455G>ACA471739926BAG3c.708G>A (p.Gln236=)
c.534G>A (p.Gln178=)
10g.119672455G>CCA378295631BAG3c.708G>C (p.Gln236His)
c.534G>C (p.Gln178His)
10g.119672455G>TCA378295632BAG3c.708G>T (p.Gln236His)
c.534G>T (p.Gln178His)
10g.119672456C>ACA378295633BAG3c.709C>A (p.Gln237Lys)
c.535C>A (p.Gln179Lys)
10g.119672456C>GCA378295634BAG3c.709C>G (p.Gln237Glu)
c.535C>G (p.Gln179Glu)
gnomAD v4
10g.119672456C>TCA378295635BAG3c.709C>T (p.Gln237Ter)
c.535C>T (p.Gln179Ter)
ClinVar dbSNP
10g.119672457A=CA1940193409BAG3c.710A= (p.Gln237=)
c.536A= (p.Gln179=)
10g.119672457A>CCA378295636BAG3c.710A>C (p.Gln237Pro)
c.536A>C (p.Gln179Pro)
dbSNP gnomAD v3 gnomAD v4
10g.119672457A>GCA378295637BAG3c.710A>G (p.Gln237Arg)
c.536A>G (p.Gln179Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.119672457A>TCA378295638BAG3c.710A>T (p.Gln237Leu)
c.536A>T (p.Gln179Leu)
10g.119672458G>ACA471739932BAG3c.711G>A (p.Gln237=)
c.537G>A (p.Gln179=)
10g.119672458G>CCA378295639BAG3c.711G>C (p.Gln237His)
c.537G>C (p.Gln179His)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.119672458G=CA1940193410BAG3c.711G= (p.Gln237=)
c.537G= (p.Gln179=)
10g.119672458G>TCA214221886BAG3c.711G>T (p.Gln237His)
c.537G>T (p.Gln179His)
dbSNP
10g.119672459G>ACA378295642BAG3c.712G>A (p.Gly238Arg)
c.538G>A (p.Gly180Arg)
ClinVar
10g.119672459G>CCA378295640BAG3c.712G>C (p.Gly238Arg)
c.538G>C (p.Gly180Arg)
10g.119672459G>TCA378295641BAG3c.712G>T (p.Gly238Trp)
c.538G>T (p.Gly180Trp)
10g.119672460G>ACA378295643BAG3c.713G>A (p.Gly238Glu)
c.539G>A (p.Gly180Glu)
10g.119672460G>CCA378295644BAG3c.713G>C (p.Gly238Ala)
c.539G>C (p.Gly180Ala)
10g.119672460G>TCA378295645BAG3c.713G>T (p.Gly238Val)
c.539G>T (p.Gly180Val)
10g.119672461G>ACA5716400BAG3c.714G>A (p.Gly238=)
c.540G>A (p.Gly180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672461G>CCA471739942BAG3c.714G>C (p.Gly238=)
c.540G>C (p.Gly180=)
dbSNP gnomAD v4
10g.119672461G=CA1940193411BAG3c.714G= (p.Gly238=)
c.540G= (p.Gly180=)
10g.119672461G>TCA471739939BAG3c.714G>T (p.Gly238=)
c.540G>T (p.Gly180=)
ClinVar
10g.119672462G>ACA214221891BAG3c.715G>A (p.Glu239Lys)
c.541G>A (p.Glu181Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.119672462G>CCA378295646BAG3c.715G>C (p.Glu239Gln)
c.541G>C (p.Glu181Gln)
10g.119672462G=CA1940193412BAG3c.715G= (p.Glu239=)
c.541G= (p.Glu181=)
10g.119672462G>TCA378295647BAG3c.715G>T (p.Glu239Ter)
c.541G>T (p.Glu181Ter)
ClinVar dbSNP
10g.119672463A>CCA378295648BAG3c.716A>C (p.Glu239Ala)
c.542A>C (p.Glu181Ala)
10g.119672463A>GCA378295649BAG3c.716A>G (p.Glu239Gly)
c.542A>G (p.Glu181Gly)
10g.119672463A>TCA378295650BAG3c.716A>T (p.Glu239Val)
c.542A>T (p.Glu181Val)
10g.119672464G>ACA471739948BAG3c.717G>A (p.Glu239=)
c.543G>A (p.Glu181=)
10g.119672464G>CCA378295651BAG3c.717G>C (p.Glu239Asp)
c.543G>C (p.Glu181Asp)
10g.119672464G>TCA378295652BAG3c.717G>T (p.Glu239Asp)
c.543G>T (p.Glu181Asp)
10g.119672465T>ACA378295653BAG3c.718T>A (p.Tyr240Asn)
c.544T>A (p.Tyr182Asn)
10g.119672465T>CCA378295655BAG3c.718T>C (p.Tyr240His)
c.544T>C (p.Tyr182His)
10g.119672465T>GCA378295654BAG3c.718T>G (p.Tyr240Asp)
c.544T>G (p.Tyr182Asp)
10g.119672466A>CCA378295656BAG3c.719A>C (p.Tyr240Ser)
c.545A>C (p.Tyr182Ser)
10g.119672466A>GCA378295658BAG3c.719A>G (p.Tyr240Cys)
c.545A>G (p.Tyr182Cys)
10g.119672466A>TCA378295657BAG3c.719A>T (p.Tyr240Phe)
c.545A>T (p.Tyr182Phe)
10g.119672467C>ACA378295659BAG3c.720C>A (p.Tyr240Ter)
c.546C>A (p.Tyr182Ter)
10g.119672467C>GCA378295660BAG3c.720C>G (p.Tyr240Ter)
c.546C>G (p.Tyr182Ter)
ClinVar gnomAD v4
10g.119672467C>TCA471739952BAG3c.720C>T (p.Tyr240=)
c.546C>T (p.Tyr182=)
gnomAD v4
10g.119672468C>ACA378295661BAG3c.721C>A (p.Gln241Lys)
c.547C>A (p.Gln183Lys)
10g.119672468C>GCA378295662BAG3c.721C>G (p.Gln241Glu)
c.547C>G (p.Gln183Glu)
10g.119672468C>TCA378295663BAG3c.721C>T (p.Gln241Ter)
c.547C>T (p.Gln183Ter)
10g.119672469A=CA1940193413BAG3c.722A= (p.Gln241=)
c.548A= (p.Gln183=)
10g.119672469A>CCA378295664BAG3c.722A>C (p.Gln241Pro)
c.548A>C (p.Gln183Pro)
10g.119672469A>GCA378295665BAG3c.722A>G (p.Gln241Arg)
c.548A>G (p.Gln183Arg)
dbSNP gnomAD v2 gnomAD v4
10g.119672469A>TCA378295666BAG3c.722A>T (p.Gln241Leu)
c.548A>T (p.Gln183Leu)
10g.119672470G>ACA471739961BAG3c.723G>A (p.Gln241=)
c.549G>A (p.Gln183=)
10g.119672470G>CCA378295667BAG3c.723G>C (p.Gln241His)
c.549G>C (p.Gln183His)
10g.119672470G>TCA378295668BAG3c.723G>T (p.Gln241His)
c.549G>T (p.Gln183His)
10g.119672471A=CA1940193414BAG3c.724A= (p.Thr242=)
c.550A= (p.Thr184=)
10g.119672471A>CCA5716401BAG3c.724A>C (p.Thr242Pro)
c.550A>C (p.Thr184Pro)
dbSNP ExAC gnomAD v2
10g.119672471A>GCA378295669BAG3c.724A>G (p.Thr242Ala)
c.550A>G (p.Thr184Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.119672471A>TCA5716402BAG3c.724A>T (p.Thr242Ser)
c.550A>T (p.Thr184Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672472C>ACA378295670BAG3c.725C>A (p.Thr242Asn)
c.551C>A (p.Thr184Asn)
10g.119672472C>GCA378295671BAG3c.725C>G (p.Thr242Ser)
c.551C>G (p.Thr184Ser)
10g.119672472C>TCA378295672BAG3c.725C>T (p.Thr242Ile)
c.551C>T (p.Thr184Ile)
10g.119672474dupCA2580082468BAG3c.727dup (p.His243ProfsTer12)
c.553dup (p.His185ProfsTer12)
ClinVar
10g.119672474delCA1139532242BAG3c.727del (p.His243ThrfsTer?)
c.553del (p.His185ThrfsTer?)
dbSNP
10g.119672473C>ACA471739968BAG3c.726C>A (p.Thr242=)
c.552C>A (p.Thr184=)
10g.119672473C>GCA471739970BAG3c.726C>G (p.Thr242=)
c.552C>G (p.Thr184=)
COSMIC
10g.119672473C>TCA471739971BAG3c.726C>T (p.Thr242=)
c.552C>T (p.Thr184=)
10g.119672474C>ACA378295673BAG3c.727C>A (p.His243Asn)
c.553C>A (p.His185Asn)
10g.119672474C>GCA378295674BAG3c.727C>G (p.His243Asp)
c.553C>G (p.His185Asp)
10g.119672474C>TCA378295675BAG3c.727C>T (p.His243Tyr)
c.553C>T (p.His185Tyr)
10g.119672475A=CA1940193415BAG3c.728A= (p.His243=)
c.554A= (p.His185=)
10g.119672475A>CCA5716403BAG3c.728A>C (p.His243Pro)
c.554A>C (p.His185Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672475A>GCA378295676BAG3c.728A>G (p.His243Arg)
c.554A>G (p.His185Arg)
10g.119672475A>TCA378295677BAG3c.728A>T (p.His243Leu)
c.554A>T (p.His185Leu)
10g.119672476C>ACA378295678BAG3c.729C>A (p.His243Gln)
c.555C>A (p.His185Gln)
gnomAD v4
10g.119672476C>GCA378295679BAG3c.729C>G (p.His243Gln)
c.555C>G (p.His185Gln)
ClinVar
10g.119672476C>TCA471739977BAG3c.729C>T (p.His243=)
c.555C>T (p.His185=)
gnomAD v4
10g.119672477C>ACA378295680BAG3c.730C>A (p.Gln244Lys)
c.556C>A (p.Gln186Lys)
10g.119672477C=CA1940193416BAG3c.730C= (p.Gln244=)
c.556C= (p.Gln186=)
10g.119672477C>GCA378295681BAG3c.730C>G (p.Gln244Glu)
c.556C>G (p.Gln186Glu)
gnomAD v4
10g.119672477C>TCA10576778BAG3c.730C>T (p.Gln244Ter)
c.556C>T (p.Gln186Ter)
ClinVar dbSNP
10g.119672478A>CCA378295682BAG3c.731A>C (p.Gln244Pro)
c.557A>C (p.Gln186Pro)
10g.119672478A>GCA378295683BAG3c.731A>G (p.Gln244Arg)
c.557A>G (p.Gln186Arg)
10g.119672478A>TCA378295684BAG3c.731A>T (p.Gln244Leu)
c.557A>T (p.Gln186Leu)
10g.119672479G>ACA471739986BAG3c.732G>A (p.Gln244=)
c.558G>A (p.Gln186=)
10g.119672479G>CCA378295685BAG3c.732G>C (p.Gln244His)
c.558G>C (p.Gln186His)
10g.119672479G>TCA378295686BAG3c.732G>T (p.Gln244His)
c.558G>T (p.Gln186His)
10g.119672480C>ACA378295689BAG3c.733C>A (p.Pro245Thr)
c.559C>A (p.Pro187Thr)
10g.119672480C=CA1940193417BAG3c.733C= (p.Pro245=)
c.559C= (p.Pro187=)
10g.119672480C>GCA378295688BAG3c.733C>G (p.Pro245Ala)
c.559C>G (p.Pro187Ala)
dbSNP gnomAD v4
10g.119672480C>TCA378295687BAG3c.733C>T (p.Pro245Ser)
c.559C>T (p.Pro187Ser)
10g.119672481C>ACA378295690BAG3c.734C>A (p.Pro245His)
c.560C>A (p.Pro187His)
gnomAD v4
10g.119672481C>GCA378295691BAG3c.734C>G (p.Pro245Arg)
c.560C>G (p.Pro187Arg)
10g.119672481C>TCA378295692BAG3c.734C>T (p.Pro245Leu)
c.560C>T (p.Pro187Leu)
10g.119672482T>ACA471739997BAG3c.735T>A (p.Pro245=)
c.561T>A (p.Pro187=)
10g.119672482T>CCA471739995BAG3c.735T>C (p.Pro245=)
c.561T>C (p.Pro187=)
10g.119672482T>GCA471739994BAG3c.735T>G (p.Pro245=)
c.561T>G (p.Pro187=)
10g.119672483G>ACA378295693BAG3c.736G>A (p.Val246Met)
c.562G>A (p.Val188Met)
10g.119672483G>CCA378295694BAG3c.736G>C (p.Val246Leu)
c.562G>C (p.Val188Leu)
10g.119672483G>TCA378295695BAG3c.736G>T (p.Val246Leu)
c.562G>T (p.Val188Leu)
10g.119672484T>ACA378295696BAG3c.737T>A (p.Val246Glu)
c.563T>A (p.Val188Glu)
10g.119672484T>CCA5716404BAG3c.737T>C (p.Val246Ala)
c.563T>C (p.Val188Ala)
ClinVar dbSNP ExAC
10g.119672484T>GCA378295697BAG3c.737T>G (p.Val246Gly)
c.563T>G (p.Val188Gly)
10g.119672484T=CA1940193418BAG3c.737T= (p.Val246=)
c.563T= (p.Val188=)
10g.119672485G>ACA471740005BAG3c.738G>A (p.Val246=)
c.564G>A (p.Val188=)
10g.119672485G>CCA471740004BAG3c.738G>C (p.Val246=)
c.564G>C (p.Val188=)
10g.119672485G>TCA471740003BAG3c.738G>T (p.Val246=)
c.564G>T (p.Val188=)
10g.119672486T>ACA378295698BAG3c.739T>A (p.Tyr247Asn)
c.565T>A (p.Tyr189Asn)
10g.119672486T>CCA378295699BAG3c.739T>C (p.Tyr247His)
c.565T>C (p.Tyr189His)
10g.119672486T>GCA378295700BAG3c.739T>G (p.Tyr247Asp)
c.565T>G (p.Tyr189Asp)
10g.119672487A>CCA378295701BAG3c.740A>C (p.Tyr247Ser)
c.566A>C (p.Tyr189Ser)
10g.119672487A>GCA378295702BAG3c.740A>G (p.Tyr247Cys)
c.566A>G (p.Tyr189Cys)
10g.119672487A>TCA378295703BAG3c.740A>T (p.Tyr247Phe)
c.566A>T (p.Tyr189Phe)
10g.119672488C>ACA378295704BAG3c.741C>A (p.Tyr247Ter)
c.567C>A (p.Tyr189Ter)
10g.119672488C=CA1940193419BAG3c.741C= (p.Tyr247=)
c.567C= (p.Tyr189=)
10g.119672488C>GCA378295705BAG3c.741C>G (p.Tyr247Ter)
c.567C>G (p.Tyr189Ter)
10g.119672488C>TCA471740011BAG3c.741C>T (p.Tyr247=)
c.567C>T (p.Tyr189=)
ClinVar dbSNP
10g.119672489C>ACA378295706BAG3c.742C>A (p.His248Asn)
c.568C>A (p.His190Asn)
10g.119672489C=CA1940193420BAG3c.742C= (p.His248=)
c.568C= (p.His190=)
10g.119672489C>GCA5716405BAG3c.742C>G (p.His248Asp)
c.568C>G (p.His190Asp)
dbSNP ExAC gnomAD v2
10g.119672489C>TCA378295707BAG3c.742C>T (p.His248Tyr)
c.568C>T (p.His190Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.119672490A=CA1940193421BAG3c.743A= (p.His248=)
c.569A= (p.His190=)
10g.119672490A>CCA378295709BAG3c.743A>C (p.His248Pro)
c.569A>C (p.His190Pro)
10g.119672490A>GCA308245BAG3c.743A>G (p.His248Arg)
c.569A>G (p.His190Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672490A>TCA378295708BAG3c.743A>T (p.His248Leu)
c.569A>T (p.His190Leu)
10g.119672491C>ACA378295710BAG3c.744C>A (p.His248Gln)
c.570C>A (p.His190Gln)
10g.119672491C>GCA378295711BAG3c.744C>G (p.His248Gln)
c.570C>G (p.His190Gln)
10g.119672491C>TCA471740017BAG3c.744C>T (p.His248=)
c.570C>T (p.His190=)
10g.119672492A>CCA378295712BAG3c.745A>C (p.Lys249Gln)
c.571A>C (p.Lys191Gln)
10g.119672492A>GCA378295714BAG3c.745A>G (p.Lys249Glu)
c.571A>G (p.Lys191Glu)
10g.119672492A>TCA378295713BAG3c.745A>T (p.Lys249Ter)
c.571A>T (p.Lys191Ter)
10g.119672493A>CCA378295715BAG3c.746A>C (p.Lys249Thr)
c.572A>C (p.Lys191Thr)
10g.119672493A>GCA378295717BAG3c.746A>G (p.Lys249Arg)
c.572A>G (p.Lys191Arg)
ClinVar
10g.119672493A>TCA378295716BAG3c.746A>T (p.Lys249Met)
c.572A>T (p.Lys191Met)
10g.119672494G>ACA471740020BAG3c.747G>A (p.Lys249=)
c.573G>A (p.Lys191=)
ClinVar
10g.119672494G>CCA378295718BAG3c.747G>C (p.Lys249Asn)
c.573G>C (p.Lys191Asn)
10g.119672494G>TCA378295719BAG3c.747G>T (p.Lys249Asn)
c.573G>T (p.Lys191Asn)
10g.119672495A=CA1940193422BAG3c.748A= (p.Ile250=)
c.574A= (p.Ile192=)
10g.119672495A>CCA378295720BAG3c.748A>C (p.Ile250Leu)
c.574A>C (p.Ile192Leu)
10g.119672495A>GCA378295721BAG3c.748A>G (p.Ile250Val)
c.574A>G (p.Ile192Val)
10g.119672495A>TCA378295722BAG3c.748A>T (p.Ile250Phe)
c.574A>T (p.Ile192Phe)
dbSNP gnomAD v2 gnomAD v4
10g.119672496T>ACA378295723BAG3c.749T>A (p.Ile250Asn)
c.575T>A (p.Ile192Asn)
10g.119672496T>CCA378295724BAG3c.749T>C (p.Ile250Thr)
c.575T>C (p.Ile192Thr)
dbSNP
10g.119672496T>GCA378295725BAG3c.749T>G (p.Ile250Ser)
c.575T>G (p.Ile192Ser)
10g.119672496T=CA1940193423BAG3c.749T= (p.Ile250=)
c.575T= (p.Ile192=)
10g.119672496_119672497delinsTCCA1940193424BAG3c.749_750delinsTC (p.Ile250=)
c.575_576delinsTC (p.Ile192=)
10g.119672497C>ACA471740027BAG3c.750C>A (p.Ile250=)
c.576C>A (p.Ile192=)
10g.119672497C>GCA378295726BAG3c.750C>G (p.Ile250Met)
c.576C>G (p.Ile192Met)
ClinVar
10g.119672497C>TCA471740031BAG3c.750C>T (p.Ile250=)
c.576C>T (p.Ile192=)
10g.119672498dupCA2573050690BAG3c.751dup (p.Gln251ProfsTer4)
c.577dup (p.Gln193ProfsTer4)
ClinVar
10g.119672498delCA1139661706BAG3c.751del (p.Gln251ArgfsTer?)
c.577del (p.Gln193ArgfsTer?)
ClinVar dbSNP
10g.119672498C>ACA378295729BAG3c.751C>A (p.Gln251Lys)
c.577C>A (p.Gln193Lys)
10g.119672498C=CA1940193426BAG3c.751C= (p.Gln251=)
c.577C= (p.Gln193=)
10g.119672498C>GCA378295728BAG3c.751C>G (p.Gln251Glu)
c.577C>G (p.Gln193Glu)
10g.119672498C>TCA378295727BAG3c.751C>T (p.Gln251Ter)
c.577C>T (p.Gln193Ter)
ClinVar dbSNP gnomAD v2
10g.119672499delCA2573053245BAG3c.752del (p.Gln251ArgfsTer?)
c.578del (p.Gln193ArgfsTer?)
dbSNP
10g.119672499A>CCA378295730BAG3c.752A>C (p.Gln251Pro)
c.578A>C (p.Gln193Pro)
10g.119672499A>GCA378295731BAG3c.752A>G (p.Gln251Arg)
c.578A>G (p.Gln193Arg)
10g.119672499A>TCA378295732BAG3c.752A>T (p.Gln251Leu)
c.578A>T (p.Gln193Leu)
10g.119672500G>ACA471740037BAG3c.753G>A (p.Gln251=)
c.579G>A (p.Gln193=)
10g.119672500G>CCA378295733BAG3c.753G>C (p.Gln251His)
c.579G>C (p.Gln193His)
dbSNP gnomAD v4
10g.119672500G>TCA378295734BAG3c.753G>T (p.Gln251His)
c.579G>T (p.Gln193His)
10g.119672501G>ACA378295735BAG3c.754G>A (p.Gly252Arg)
c.580G>A (p.Gly194Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.119672501G>CCA378295736BAG3c.754G>C (p.Gly252Arg)
c.580G>C (p.Gly194Arg)
10g.119672501G=CA1940193427BAG3c.754G= (p.Gly252=)
c.580G= (p.Gly194=)
10g.119672501G>TCA378295737BAG3c.754G>T (p.Gly252Trp)
c.580G>T (p.Gly194Trp)
10g.119672502G>ACA378295738BAG3c.755G>A (p.Gly252Glu)
c.581G>A (p.Gly194Glu)
10g.119672502G>CCA378295739BAG3c.755G>C (p.Gly252Ala)
c.581G>C (p.Gly194Ala)
10g.119672502G>TCA378295740BAG3c.755G>T (p.Gly252Val)
c.581G>T (p.Gly194Val)
10g.119672503G>ACA471740046BAG3c.756G>A (p.Gly252=)
c.582G>A (p.Gly194=)
ClinVar dbSNP
10g.119672503G>CCA471740043BAG3c.756G>C (p.Gly252=)
c.582G>C (p.Gly194=)
10g.119672503G=CA1940193428BAG3c.756G= (p.Gly252=)
c.582G= (p.Gly194=)
10g.119672503G>TCA471740042BAG3c.756G>T (p.Gly252=)
c.582G>T (p.Gly194=)
10g.119672504G>ACA378295742BAG3c.757G>A (p.Asp253Asn)
c.583G>A (p.Asp195Asn)
10g.119672504G>CCA378295743BAG3c.757G>C (p.Asp253His)
c.583G>C (p.Asp195His)
10g.119672504G>TCA378295741BAG3c.757G>T (p.Asp253Tyr)
c.583G>T (p.Asp195Tyr)
10g.119672505A>CCA378295744BAG3c.758A>C (p.Asp253Ala)
c.584A>C (p.Asp195Ala)
10g.119672505A>GCA378295745BAG3c.758A>G (p.Asp253Gly)
c.584A>G (p.Asp195Gly)
gnomAD v4
10g.119672505A>TCA378295746BAG3c.758A>T (p.Asp253Val)
c.584A>T (p.Asp195Val)
10g.119672506T>ACA378295747BAG3c.759T>A (p.Asp253Glu)
c.585T>A (p.Asp195Glu)
10g.119672506T>CCA471740052BAG3c.759T>C (p.Asp253=)
c.585T>C (p.Asp195=)
10g.119672506T>GCA378295748BAG3c.759T>G (p.Asp253Glu)
c.585T>G (p.Asp195Glu)
10g.119672507G>ACA378295751BAG3c.760G>A (p.Asp254Asn)
c.586G>A (p.Asp196Asn)
10g.119672507G>CCA378295749BAG3c.760G>C (p.Asp254His)
c.586G>C (p.Asp196His)
10g.119672507G>TCA378295750BAG3c.760G>T (p.Asp254Tyr)
c.586G>T (p.Asp196Tyr)
10g.119672508A>CCA378295752BAG3c.761A>C (p.Asp254Ala)
c.587A>C (p.Asp196Ala)
10g.119672508A>GCA378295753BAG3c.761A>G (p.Asp254Gly)
c.587A>G (p.Asp196Gly)
ClinVar dbSNP
10g.119672508A>TCA378295754BAG3c.761A>T (p.Asp254Val)
c.587A>T (p.Asp196Val)
gnomAD v4
10g.119672509C>ACA378295755BAG3c.762C>A (p.Asp254Glu)
c.588C>A (p.Asp196Glu)
10g.119672509C>GCA378295756BAG3c.762C>G (p.Asp254Glu)
c.588C>G (p.Asp196Glu)
10g.119672509C>TCA471740060BAG3c.762C>T (p.Asp254=)
c.588C>T (p.Asp196=)
10g.119672510T>ACA378295757BAG3c.763T>A (p.Trp255Arg)
c.589T>A (p.Trp197Arg)
10g.119672510T>CCA378295759BAG3c.763T>C (p.Trp255Arg)
c.589T>C (p.Trp197Arg)
10g.119672510T>GCA378295758BAG3c.763T>G (p.Trp255Gly)
c.589T>G (p.Trp197Gly)
10g.119672511G>ACA378295760BAG3c.764G>A (p.Trp255Ter)
c.590G>A (p.Trp197Ter)
ClinVar
10g.119672511G>CCA378295761BAG3c.764G>C (p.Trp255Ser)
c.590G>C (p.Trp197Ser)
10g.119672511G>TCA378295762BAG3c.764G>T (p.Trp255Leu)
c.590G>T (p.Trp197Leu)
10g.119672512G>ACA378295763BAG3c.765G>A (p.Trp255Ter)
c.591G>A (p.Trp197Ter)
ClinVar dbSNP
10g.119672512G>CCA378295764BAG3c.765G>C (p.Trp255Cys)
c.591G>C (p.Trp197Cys)
10g.119672512G=CA1940193429BAG3c.765G= (p.Trp255=)
c.591G= (p.Trp197=)
10g.119672512G>TCA378295765BAG3c.765G>T (p.Trp255Cys)
c.591G>T (p.Trp197Cys)
10g.119672513G>ACA378295766BAG3c.766G>A (p.Glu256Lys)
c.592G>A (p.Glu198Lys)
10g.119672513G>CCA378295767BAG3c.766G>C (p.Glu256Gln)
c.592G>C (p.Glu198Gln)
10g.119672513G>TCA378295768BAG3c.766G>T (p.Glu256Ter)
c.592G>T (p.Glu198Ter)
ClinVar dbSNP
10g.119672514A>CCA378295769BAG3c.767A>C (p.Glu256Ala)
c.593A>C (p.Glu198Ala)
10g.119672514A>GCA378295770BAG3c.767A>G (p.Glu256Gly)
c.593A>G (p.Glu198Gly)
10g.119672514A>TCA378295771BAG3c.767A>T (p.Glu256Val)
c.593A>T (p.Glu198Val)
10g.119672515G>ACA471740075BAG3c.768G>A (p.Glu256=)
c.594G>A (p.Glu198=)
ClinVar dbSNP
10g.119672515G>CCA378295773BAG3c.768G>C (p.Glu256Asp)
c.594G>C (p.Glu198Asp)
10g.119672515G>TCA378295772BAG3c.768G>T (p.Glu256Asp)
c.594G>T (p.Glu198Asp)
10g.119672520_119672525delCA2611160109BAG3c.773_778del (p.Arg258_Pro259del)
c.599_604del (p.Arg200_Pro201del)
gnomAD v4
10g.119672516C>ACA378295774BAG3c.769C>A (p.Pro257Thr)
c.595C>A (p.Pro199Thr)
10g.119672516C>GCA378295776BAG3c.769C>G (p.Pro257Ala)
c.595C>G (p.Pro199Ala)
10g.119672516C>TCA378295775BAG3c.769C>T (p.Pro257Ser)
c.595C>T (p.Pro199Ser)
gnomAD v4
10g.119672517C>ACA378295777BAG3c.770C>A (p.Pro257His)
c.596C>A (p.Pro199His)
10g.119672517C=CA1940193431BAG3c.770C= (p.Pro257=)
c.596C= (p.Pro199=)
10g.119672517C>GCA378295778BAG3c.770C>G (p.Pro257Arg)
c.596C>G (p.Pro199Arg)
10g.119672517C>TCA5716406BAG3c.770C>T (p.Pro257Leu)
c.596C>T (p.Pro199Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672518C>ACA471740082BAG3c.771C>A (p.Pro257=)
c.597C>A (p.Pro199=)
10g.119672518C=CA1940193432BAG3c.771C= (p.Pro257=)
c.597C= (p.Pro199=)
10g.119672518C>GCA5716407BAG3c.771C>G (p.Pro257=)
c.597C>G (p.Pro199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672518C>TCA175294BAG3c.771C>T (p.Pro257=)
c.597C>T (p.Pro199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.119672519C>ACA471740089BAG3c.772C>A (p.Arg258=)
c.598C>A (p.Arg200=)
10g.119672519C=CA1940193433BAG3c.772C= (p.Arg258=)
c.598C= (p.Arg200=)
10g.119672519C>GCA378295779BAG3c.772C>G (p.Arg258Gly)
c.598C>G (p.Arg200Gly)
10g.119672519C>TCA135025BAG3c.772C>T (p.Arg258Trp)
c.598C>T (p.Arg200Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.119672520G>ACA5716408BAG3c.773G>A (p.Arg258Gln)
c.599G>A (p.Arg200Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672520G>CCA378295780BAG3c.773G>C (p.Arg258Pro)
c.599G>C (p.Arg200Pro)
10g.119672520G=CA1940193434BAG3c.773G= (p.Arg258=)
c.599G= (p.Arg200=)
10g.119672520G>TCA378295781BAG3c.773G>T (p.Arg258Leu)
c.599G>T (p.Arg200Leu)
10g.119672521G>ACA471740099BAG3c.774G>A (p.Arg258=)
c.600G>A (p.Arg200=)
10g.119672521G>CCA471740097BAG3c.774G>C (p.Arg258=)
c.600G>C (p.Arg200=)
10g.119672521G>TCA471740093BAG3c.774G>T (p.Arg258=)
c.600G>T (p.Arg200=)
10g.119672522C>ACA378295782BAG3c.775C>A (p.Pro259Thr)
c.601C>A (p.Pro201Thr)
10g.119672522C=CA1940193435BAG3c.775C= (p.Pro259=)
c.601C= (p.Pro201=)
10g.119672522C>GCA378295783BAG3c.775C>G (p.Pro259Ala)
c.601C>G (p.Pro201Ala)
10g.119672522C>TCA214221961BAG3c.775C>T (p.Pro259Ser)
c.601C>T (p.Pro201Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.119672523C>ACA378295784BAG3c.776C>A (p.Pro259His)
c.602C>A (p.Pro201His)
10g.119672523C=CA1940193438BAG3c.776C= (p.Pro259=)
c.602C= (p.Pro201=)
10g.119672523C>GCA378295785BAG3c.776C>G (p.Pro259Arg)
c.602C>G (p.Pro201Arg)
10g.119672523C>TCA5716409BAG3c.776C>T (p.Pro259Leu)
c.602C>T (p.Pro201Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.119672524C>ACA471740108BAG3c.777C>A (p.Pro259=)
c.603C>A (p.Pro201=)
10g.119672524C=CA1940193441BAG3c.777C= (p.Pro259=)
c.603C= (p.Pro201=)
10g.119672524C>GCA471740110BAG3c.777C>G (p.Pro259=)
c.603C>G (p.Pro201=)
10g.119672524C>TCA471740113BAG3c.777C>T (p.Pro259=)
c.603C>T (p.Pro201=)
ClinVar dbSNP
10g.119672525C>ACA378295786BAG3c.778C>A (p.Leu260Met)
c.604C>A (p.Leu202Met)
10g.119672525C=CA1940193443BAG3c.778C= (p.Leu260=)
c.604C= (p.Leu202=)
10g.119672525C>GCA378295787BAG3c.778C>G (p.Leu260Val)
c.604C>G (p.Leu202Val)
10g.119672525C>TCA471740116BAG3c.778C>T (p.Leu260=)
c.604C>T (p.Leu202=)
dbSNP
10g.119672526T>ACA378295788BAG3c.779T>A (p.Leu260Gln)
c.605T>A (p.Leu202Gln)
10g.119672526T>CCA378295789BAG3c.779T>C (p.Leu260Pro)
c.605T>C (p.Leu202Pro)
gnomAD v4
10g.119672526T>GCA378295790BAG3c.779T>G (p.Leu260Arg)
c.605T>G (p.Leu202Arg)
10g.119672526_119672541delinsTGCGGGCGGCATCCCCCA1940193445BAG3c.779_794delinsTGCGGGCGGCATCCCC (p.Leu260=)
c.605_620delinsTGCGGGCGGCATCCCC (p.Leu202=)
10g.119672527G>ACA471740121BAG3c.780G>A (p.Leu260=)
c.606G>A (p.Leu202=)
ClinVar
10g.119672527G>CCA471740126BAG3c.780G>C (p.Leu260=)
c.606G>C (p.Leu202=)
10g.119672527G>TCA471740125BAG3c.780G>T (p.Leu260=)
c.606G>T (p.Leu202=)
10g.119672528_119672533delCA2611160110BAG3c.781_786del (p.Arg261_Ala262del)
c.607_612del (p.Arg203_Ala204del)
gnomAD v4
10g.119672528_119672542delCA1940193446BAG3c.781_795del (p.Arg261_Pro265del)
c.607_621del (p.Arg203_Pro207del)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.119672528C>ACA471740127BAG3c.781C>A (p.Arg261=)
c.607C>A (p.Arg203=)
gnomAD v4
10g.119672528C=CA1940193448BAG3c.781C= (p.Arg261=)
c.607C= (p.Arg203=)
10g.119672528C>GCA378295791BAG3c.781C>G (p.Arg261Gly)
c.607C>G (p.Arg203Gly)
gnomAD v4
10g.119672528C>TCA175297BAG3c.781C>T (p.Arg261Trp)
c.607C>T (p.Arg203Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.119672529G>ACA5716410BAG3c.782G>A (p.Arg261Gln)
c.608G>A (p.Arg203Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.119672529G>CCA378295792BAG3c.782G>C (p.Arg261Pro)
c.608G>C (p.Arg203Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.119672529G=CA1940193449BAG3c.782G= (p.Arg261=)
c.608G= (p.Arg203=)
10g.119672529G>TCA378295793BAG3c.782G>T (p.Arg261Leu)
c.608G>T (p.Arg203Leu)

Number of alleles fetched