Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52028046A>CCA356876073SGCBc.675T>G (p.Ile225Met)
c.378T>G (p.Ile126Met)
c.465T>G (p.Ile155Met)
4g.52028046A>GCA439273766SGCBc.675T>C (p.Ile225=)
c.378T>C (p.Ile126=)
c.465T>C (p.Ile155=)
 ClinVar
4g.52028046A>TCA439273767SGCBc.675T>A (p.Ile225=)
c.378T>A (p.Ile126=)
c.465T>A (p.Ile155=)
 gnomAD v4
4g.52028047A=CA1457429150SGCBc.674T= (p.Ile225=)
c.377T= (p.Ile126=)
c.464T= (p.Ile155=)
4g.52028047A>CCA356876076SGCBc.674T>G (p.Ile225Ser)
c.377T>G (p.Ile126Ser)
c.464T>G (p.Ile155Ser)
4g.52028047A>GCA2918322SGCBc.674T>C (p.Ile225Thr)
c.377T>C (p.Ile126Thr)
c.464T>C (p.Ile155Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028047A>TCA356876079SGCBc.674T>A (p.Ile225Asn)
c.377T>A (p.Ile126Asn)
c.464T>A (p.Ile155Asn)
4g.52028048T>ACA356876082SGCBc.673A>T (p.Ile225Phe)
c.376A>T (p.Ile126Phe)
c.463A>T (p.Ile155Phe)
4g.52028048T>CCA356876084SGCBc.673A>G (p.Ile225Val)
c.376A>G (p.Ile126Val)
c.463A>G (p.Ile155Val)
 gnomAD v4
4g.52028048T>GCA356876087SGCBc.673A>C (p.Ile225Leu)
c.376A>C (p.Ile126Leu)
c.463A>C (p.Ile155Leu)
4g.52028049A>CCA439273770SGCBc.672T>G (p.Ala224=)
c.375T>G (p.Ala125=)
c.462T>G (p.Ala154=)
4g.52028049A>GCA439273772SGCBc.672T>C (p.Ala224=)
c.375T>C (p.Ala125=)
c.462T>C (p.Ala154=)
 gnomAD v4
4g.52028049A>TCA439273773SGCBc.672T>A (p.Ala224=)
c.375T>A (p.Ala125=)
c.462T>A (p.Ala154=)
4g.52028050G>ACA356876088SGCBc.671C>T (p.Ala224Val)
c.374C>T (p.Ala125Val)
c.461C>T (p.Ala154Val)
4g.52028050G>CCA356876090SGCBc.671C>G (p.Ala224Gly)
c.374C>G (p.Ala125Gly)
c.461C>G (p.Ala154Gly)
4g.52028050G=CA1457429151SGCBc.671C= (p.Ala224=)
c.374C= (p.Ala125=)
c.461C= (p.Ala154=)
4g.52028050G>TCA356876091SGCBc.671C>A (p.Ala224Asp)
c.374C>A (p.Ala125Asp)
c.461C>A (p.Ala154Asp)
 dbSNP gnomAD v4
4g.52028051C>ACA356876093SGCBc.670G>T (p.Ala224Ser)
c.373G>T (p.Ala125Ser)
c.460G>T (p.Ala154Ser)
4g.52028051C>GCA356876096SGCBc.670G>C (p.Ala224Pro)
c.373G>C (p.Ala125Pro)
c.460G>C (p.Ala154Pro)
4g.52028051C>TCA356876100SGCBc.670G>A (p.Ala224Thr)
c.373G>A (p.Ala125Thr)
c.460G>A (p.Ala154Thr)
4g.52028052A>CCA439273775SGCBc.669T>G (p.Arg223=)
c.372T>G (p.Arg124=)
c.459T>G (p.Arg153=)
4g.52028052A>GCA439273776SGCBc.669T>C (p.Arg223=)
c.372T>C (p.Arg124=)
c.459T>C (p.Arg153=)
4g.52028052A>TCA439273777SGCBc.669T>A (p.Arg223=)
c.372T>A (p.Arg124=)
c.459T>A (p.Arg153=)
4g.52028053C>ACA356876105SGCBc.668G>T (p.Arg223Leu)
c.371G>T (p.Arg124Leu)
c.458G>T (p.Arg153Leu)
4g.52028053C=CA1457429152SGCBc.668G= (p.Arg223=)
c.371G= (p.Arg124=)
c.458G= (p.Arg153=)
4g.52028053C>GCA356876107SGCBc.668G>C (p.Arg223Pro)
c.371G>C (p.Arg124Pro)
c.458G>C (p.Arg153Pro)
4g.52028053C>TCA2918323SGCBc.668G>A (p.Arg223His)
c.371G>A (p.Arg124His)
c.458G>A (p.Arg153His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028054G>ACA96780948SGCBc.667C>T (p.Arg223Cys)
c.370C>T (p.Arg124Cys)
c.457C>T (p.Arg153Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028054G>CCA356876110SGCBc.667C>G (p.Arg223Gly)
c.370C>G (p.Arg124Gly)
c.457C>G (p.Arg153Gly)
4g.52028054G=CA1457429153SGCBc.667C= (p.Arg223=)
c.370C= (p.Arg124=)
c.457C= (p.Arg153=)
4g.52028054G>TCA356876113SGCBc.667C>A (p.Arg223Ser)
c.370C>A (p.Arg124Ser)
c.457C>A (p.Arg153Ser)
 gnomAD v4
4g.52028055C>ACA439273779SGCBc.666G>T (p.Gly222=)
c.369G>T (p.Gly123=)
c.456G>T (p.Gly152=)
4g.52028055C>GCA439273780SGCBc.666G>C (p.Gly222=)
c.369G>C (p.Gly123=)
c.456G>C (p.Gly152=)
4g.52028055C>TCA439273781SGCBc.666G>A (p.Gly222=)
c.369G>A (p.Gly123=)
c.456G>A (p.Gly152=)
4g.52028056C>ACA356876118SGCBc.665G>T (p.Gly222Val)
c.368G>T (p.Gly123Val)
c.455G>T (p.Gly152Val)
4g.52028056C>GCA356876120SGCBc.665G>C (p.Gly222Ala)
c.368G>C (p.Gly123Ala)
c.455G>C (p.Gly152Ala)
4g.52028056C>TCA356876121SGCBc.665G>A (p.Gly222Glu)
c.368G>A (p.Gly123Glu)
c.455G>A (p.Gly152Glu)
4g.52028057C>ACA356876128SGCBc.664G>T (p.Gly222Trp)
c.367G>T (p.Gly123Trp)
c.454G>T (p.Gly152Trp)
4g.52028057C=CA1457429154SGCBc.664G= (p.Gly222=)
c.367G= (p.Gly123=)
c.454G= (p.Gly152=)
4g.52028057C>GCA356876123SGCBc.664G>C (p.Gly222Arg)
c.367G>C (p.Gly123Arg)
c.454G>C (p.Gly152Arg)
4g.52028057C>TCA356876126SGCBc.664G>A (p.Gly222Arg)
c.367G>A (p.Gly123Arg)
c.454G>A (p.Gly152Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.52028058A>CCA356876130SGCBc.663T>G (p.Asp221Glu)
c.366T>G (p.Asp122Glu)
c.453T>G (p.Asp151Glu)
4g.52028058A>GCA439273786SGCBc.663T>C (p.Asp221=)
c.366T>C (p.Asp122=)
c.453T>C (p.Asp151=)
4g.52028058A>TCA356876131SGCBc.663T>A (p.Asp221Glu)
c.366T>A (p.Asp122Glu)
c.453T>A (p.Asp151Glu)
4g.52028059T>ACA356876134SGCBc.662A>T (p.Asp221Val)
c.365A>T (p.Asp122Val)
c.452A>T (p.Asp151Val)
4g.52028059T>CCA356876136SGCBc.662A>G (p.Asp221Gly)
c.365A>G (p.Asp122Gly)
c.452A>G (p.Asp151Gly)
4g.52028059T>GCA356876138SGCBc.662A>C (p.Asp221Ala)
c.365A>C (p.Asp122Ala)
c.452A>C (p.Asp151Ala)
4g.52028060C>ACA356876141SGCBc.661G>T (p.Asp221Tyr)
c.364G>T (p.Asp122Tyr)
c.451G>T (p.Asp151Tyr)
4g.52028060C>GCA356876144SGCBc.661G>C (p.Asp221His)
c.364G>C (p.Asp122His)
c.451G>C (p.Asp151His)
4g.52028060C>TCA356876143SGCBc.661G>A (p.Asp221Asn)
c.364G>A (p.Asp122Asn)
c.451G>A (p.Asp151Asn)
4g.52028061A>CCA439273789SGCBc.660T>G (p.Val220=)
c.363T>G (p.Val121=)
c.450T>G (p.Val150=)
4g.52028061A>GCA439273790SGCBc.660T>C (p.Val220=)
c.363T>C (p.Val121=)
c.450T>C (p.Val150=)
 ClinVar dbSNP
4g.52028061A>TCA439273791SGCBc.660T>A (p.Val220=)
c.363T>A (p.Val121=)
c.450T>A (p.Val150=)
4g.52028062A>CCA356876147SGCBc.659T>G (p.Val220Gly)
c.362T>G (p.Val121Gly)
c.449T>G (p.Val150Gly)
4g.52028062A>GCA356876149SGCBc.659T>C (p.Val220Ala)
c.362T>C (p.Val121Ala)
c.449T>C (p.Val150Ala)
4g.52028062A>TCA356876150SGCBc.659T>A (p.Val220Asp)
c.362T>A (p.Val121Asp)
c.449T>A (p.Val150Asp)
4g.52028063C>ACA356876153SGCBc.658G>T (p.Val220Phe)
c.361G>T (p.Val121Phe)
c.448G>T (p.Val150Phe)
4g.52028063C>GCA356876155SGCBc.658G>C (p.Val220Leu)
c.361G>C (p.Val121Leu)
c.448G>C (p.Val150Leu)
4g.52028063C>TCA356876157SGCBc.658G>A (p.Val220Ile)
c.361G>A (p.Val121Ile)
c.448G>A (p.Val150Ile)
4g.52028063_52028065delinsCTTCA1457429155SGCBc.656_658delinsAAG (p.Lys219=)
c.359_361delinsAAG (p.Lys120=)
c.446_448delinsAAG (p.Lys149=)
4g.52028064T>ACA356876158SGCBc.657A>T (p.Lys219Asn)
c.360A>T (p.Lys120Asn)
c.447A>T (p.Lys149Asn)
4g.52028064T>CCA439273796SGCBc.657A>G (p.Lys219=)
c.360A>G (p.Lys120=)
c.447A>G (p.Lys149=)
4g.52028064T>GCA356876159SGCBc.657A>C (p.Lys219Asn)
c.360A>C (p.Lys120Asn)
c.447A>C (p.Lys149Asn)
 dbSNP gnomAD v3 gnomAD v4
4g.52028064T=CA1457429156SGCBc.657A= (p.Lys219=)
c.360A= (p.Lys120=)
c.447A= (p.Lys149=)
4g.52028067dupCA2670598634SGCBc.657dup (p.Val220SerfsTer2)
c.360dup (p.Val121SerfsTer2)
c.447dup (p.Val150SerfsTer2)
 gnomAD v4
4g.52028067delCA2918324SGCBc.657del (p.Val220LeufsTer?)
c.360del (p.Val121LeufsTer?)
c.447del (p.Val150LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028066_52028067delCA551340682SGCBc.656_657del (p.Lys219SerfsTer2)
c.359_360del (p.Lys120SerfsTer2)
c.446_447del (p.Lys149SerfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028065T>ACA356876163SGCBc.656A>T (p.Lys219Ile)
c.359A>T (p.Lys120Ile)
c.446A>T (p.Lys149Ile)
4g.52028065T>CCA356876166SGCBc.656A>G (p.Lys219Arg)
c.359A>G (p.Lys120Arg)
c.446A>G (p.Lys149Arg)
4g.52028065T>GCA356876167SGCBc.656A>C (p.Lys219Thr)
c.359A>C (p.Lys120Thr)
c.446A>C (p.Lys149Thr)
4g.52028066T>ACA356876174SGCBc.655A>T (p.Lys219Ter)
c.358A>T (p.Lys120Ter)
c.445A>T (p.Lys149Ter)
4g.52028066T>CCA356876172SGCBc.655A>G (p.Lys219Glu)
c.358A>G (p.Lys120Glu)
c.445A>G (p.Lys149Glu)
4g.52028066T>GCA356876170SGCBc.655A>C (p.Lys219Gln)
c.358A>C (p.Lys120Gln)
c.445A>C (p.Lys149Gln)
4g.52028066T=CA1457429157SGCBc.655A= (p.Lys219=)
c.358A= (p.Lys120=)
c.445A= (p.Lys149=)
4g.52028067T>ACA439273801SGCBc.654A>T (p.Ile218=)
c.357A>T (p.Ile119=)
c.444A>T (p.Ile148=)
4g.52028067T>CCA356876176SGCBc.654A>G (p.Ile218Met)
c.357A>G (p.Ile119Met)
c.444A>G (p.Ile148Met)
4g.52028067T>GCA439273804SGCBc.654A>C (p.Ile218=)
c.357A>C (p.Ile119=)
c.444A>C (p.Ile148=)
4g.52028070_52028071dupCA2918325SGCBc.653_654dup (p.Lys219Ter)
c.356_357dup (p.Lys120Ter)
c.443_444dup (p.Lys149Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028070_52028071delCA913106930SGCBc.653_654del (p.Ile218LysfsTer3)
c.356_357del (p.Ile119LysfsTer3)
c.443_444del (p.Ile148LysfsTer3)
4g.52028068A=CA1457429158SGCBc.653T= (p.Ile218=)
c.356T= (p.Ile119=)
c.443T= (p.Ile148=)
4g.52028068A>CCA356876177SGCBc.653T>G (p.Ile218Arg)
c.356T>G (p.Ile119Arg)
c.443T>G (p.Ile148Arg)
4g.52028068A>GCA356876179SGCBc.653T>C (p.Ile218Thr)
c.356T>C (p.Ile119Thr)
c.443T>C (p.Ile148Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.52028068A>TCA356876178SGCBc.653T>A (p.Ile218Lys)
c.356T>A (p.Ile119Lys)
c.443T>A (p.Ile148Lys)
4g.52028069T>ACA356876182SGCBc.652A>T (p.Ile218Leu)
c.355A>T (p.Ile119Leu)
c.442A>T (p.Ile148Leu)
4g.52028069T>CCA356876184SGCBc.652A>G (p.Ile218Val)
c.355A>G (p.Ile119Val)
c.442A>G (p.Ile148Val)
 gnomAD v4
4g.52028069T>GCA356876187SGCBc.652A>C (p.Ile218Leu)
c.355A>C (p.Ile119Leu)
c.442A>C (p.Ile148Leu)
4g.52028070A>CCA356876188SGCBc.651T>G (p.Asn217Lys)
c.354T>G (p.Asn118Lys)
c.441T>G (p.Asn147Lys)
4g.52028070A>GCA439273808SGCBc.651T>C (p.Asn217=)
c.354T>C (p.Asn118=)
c.441T>C (p.Asn147=)
 gnomAD v4
4g.52028070A>TCA356876190SGCBc.651T>A (p.Asn217Lys)
c.354T>A (p.Asn118Lys)
c.441T>A (p.Asn147Lys)
4g.52028070_52028071delinsATCA1457429159SGCBc.650_651delinsAT (p.Asn217=)
c.353_354delinsAT (p.Asn118=)
c.440_441delinsAT (p.Asn147=)
4g.52028071T>ACA356876192SGCBc.650A>T (p.Asn217Ile)
c.353A>T (p.Asn118Ile)
c.440A>T (p.Asn147Ile)
4g.52028071T>CCA356876194SGCBc.650A>G (p.Asn217Ser)
c.353A>G (p.Asn118Ser)
c.440A>G (p.Asn147Ser)
 gnomAD v4
4g.52028071T>GCA356876196SGCBc.650A>C (p.Asn217Thr)
c.353A>C (p.Asn118Thr)
c.440A>C (p.Asn147Thr)
4g.52028073delCA658822650SGCBc.650del (p.Asn217IlefsTer2)
c.353del (p.Asn118IlefsTer2)
c.440del (p.Asn147IlefsTer2)
 ClinVar dbSNP
4g.52028072T>ACA356876199SGCBc.649A>T (p.Asn217Tyr)
c.352A>T (p.Asn118Tyr)
c.439A>T (p.Asn147Tyr)
4g.52028072T>CCA356876200SGCBc.649A>G (p.Asn217Asp)
c.352A>G (p.Asn118Asp)
c.439A>G (p.Asn147Asp)
4g.52028072T>GCA356876203SGCBc.649A>C (p.Asn217His)
c.352A>C (p.Asn118His)
c.439A>C (p.Asn147His)
4g.52028073T>ACA356876204SGCBc.648A>T (p.Leu216Phe)
c.351A>T (p.Leu117Phe)
c.438A>T (p.Leu146Phe)
4g.52028073T>CCA439273813SGCBc.648A>G (p.Leu216=)
c.351A>G (p.Leu117=)
c.438A>G (p.Leu146=)
4g.52028073T>GCA356876206SGCBc.648A>C (p.Leu216Phe)
c.351A>C (p.Leu117Phe)
c.438A>C (p.Leu146Phe)
4g.52028074A>CCA356876209SGCBc.647T>G (p.Leu216Ter)
c.350T>G (p.Leu117Ter)
c.437T>G (p.Leu146Ter)
4g.52028074A>GCA356876214SGCBc.647T>C (p.Leu216Ser)
c.350T>C (p.Leu117Ser)
c.437T>C (p.Leu146Ser)
4g.52028074A>TCA356876211SGCBc.647T>A (p.Leu216Ter)
c.350T>A (p.Leu117Ter)
c.437T>A (p.Leu146Ter)
4g.52028075A=CA1457429160SGCBc.646T= (p.Leu216=)
c.349T= (p.Leu117=)
c.436T= (p.Leu146=)
4g.52028075A>CCA356876216SGCBc.646T>G (p.Leu216Val)
c.349T>G (p.Leu117Val)
c.436T>G (p.Leu146Val)
4g.52028075A>GCA439273814SGCBc.646T>C (p.Leu216=)
c.349T>C (p.Leu117=)
c.436T>C (p.Leu146=)
4g.52028075A>TCA356876217SGCBc.646T>A (p.Leu216Ile)
c.349T>A (p.Leu117Ile)
c.436T>A (p.Leu146Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.52028076A>CCA356876219SGCBc.645T>G (p.Asp215Glu)
c.348T>G (p.Asp116Glu)
c.435T>G (p.Asp145Glu)
4g.52028076A>GCA439273815SGCBc.645T>C (p.Asp215=)
c.348T>C (p.Asp116=)
c.435T>C (p.Asp145=)
 gnomAD v4
4g.52028076A>TCA356876220SGCBc.645T>A (p.Asp215Glu)
c.348T>A (p.Asp116Glu)
c.435T>A (p.Asp145Glu)
4g.52028077T>ACA356876222SGCBc.644A>T (p.Asp215Val)
c.347A>T (p.Asp116Val)
c.434A>T (p.Asp145Val)
 ClinVar
4g.52028077T>CCA356876223SGCBc.644A>G (p.Asp215Gly)
c.347A>G (p.Asp116Gly)
c.434A>G (p.Asp145Gly)
4g.52028077T>GCA356876225SGCBc.644A>C (p.Asp215Ala)
c.347A>C (p.Asp116Ala)
c.434A>C (p.Asp145Ala)
4g.52028078C>ACA2918326SGCBc.643G>T (p.Asp215Tyr)
c.346G>T (p.Asp116Tyr)
c.433G>T (p.Asp145Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028078C=CA1457429161SGCBc.643G= (p.Asp215=)
c.346G= (p.Asp116=)
c.433G= (p.Asp145=)
4g.52028078C>GCA356876228SGCBc.643G>C (p.Asp215His)
c.346G>C (p.Asp116His)
c.433G>C (p.Asp145His)
 dbSNP gnomAD v2 gnomAD v4
4g.52028078C>TCA356876231SGCBc.643G>A (p.Asp215Asn)
c.346G>A (p.Asp116Asn)
c.433G>A (p.Asp145Asn)
4g.52028079A>CCA356876233SGCBc.642T>G (p.Ser214Arg)
c.345T>G (p.Ser115Arg)
c.432T>G (p.Ser144Arg)
4g.52028079A>GCA439273819SGCBc.642T>C (p.Ser214=)
c.345T>C (p.Ser115=)
c.432T>C (p.Ser144=)
4g.52028079A>TCA356876235SGCBc.642T>A (p.Ser214Arg)
c.345T>A (p.Ser115Arg)
c.432T>A (p.Ser144Arg)
4g.52028080C>ACA2918327SGCBc.641G>T (p.Ser214Ile)
c.344G>T (p.Ser115Ile)
c.431G>T (p.Ser144Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028080C=CA1457429162SGCBc.641G= (p.Ser214=)
c.344G= (p.Ser115=)
c.431G= (p.Ser144=)
4g.52028080C>GCA356876239SGCBc.641G>C (p.Ser214Thr)
c.344G>C (p.Ser115Thr)
c.431G>C (p.Ser144Thr)
4g.52028080C>TCA356876241SGCBc.641G>A (p.Ser214Asn)
c.344G>A (p.Ser115Asn)
c.431G>A (p.Ser144Asn)
4g.52028081T>ACA2918328SGCBc.640A>T (p.Ser214Cys)
c.343A>T (p.Ser115Cys)
c.430A>T (p.Ser144Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028081T>CCA356876245SGCBc.640A>G (p.Ser214Gly)
c.343A>G (p.Ser115Gly)
c.430A>G (p.Ser144Gly)
4g.52028081T>GCA356876246SGCBc.640A>C (p.Ser214Arg)
c.343A>C (p.Ser115Arg)
c.430A>C (p.Ser144Arg)
4g.52028081T=CA1457429163SGCBc.640A= (p.Ser214=)
c.343A= (p.Ser115=)
c.430A= (p.Ser144=)
4g.52028082G>ACA439273823SGCBc.639C>T (p.Thr213=)
c.342C>T (p.Thr114=)
c.429C>T (p.Thr143=)
 ClinVar dbSNP
4g.52028082G>CCA96780974SGCBc.639C>G (p.Thr213=)
c.342C>G (p.Thr114=)
c.429C>G (p.Thr143=)
 dbSNP
4g.52028082G=CA1457429164SGCBc.639C= (p.Thr213=)
c.342C= (p.Thr114=)
c.429C= (p.Thr143=)
4g.52028082G>TCA439273824SGCBc.639C>A (p.Thr213=)
c.342C>A (p.Thr114=)
c.429C>A (p.Thr143=)
4g.52028082_52028083insTTTAAATATCA2918329SGCBc.638_639insATATTTAAA (p.Thr213_Ser214insTyrLeuAsn)
c.341_342insATATTTAAA (p.Thr114_Ser115insTyrLeuAsn)
c.428_429insATATTTAAA (p.Thr143_Ser144insTyrLeuAsn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028083G>ACA2918330SGCBc.638C>T (p.Thr213Ile)
c.341C>T (p.Thr114Ile)
c.428C>T (p.Thr143Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028083G>CCA356876253SGCBc.638C>G (p.Thr213Ser)
c.341C>G (p.Thr114Ser)
c.428C>G (p.Thr143Ser)
4g.52028083G=CA1457429165SGCBc.638C= (p.Thr213=)
c.341C= (p.Thr114=)
c.428C= (p.Thr143=)
4g.52028083G>TCA356876250SGCBc.638C>A (p.Thr213Asn)
c.341C>A (p.Thr114Asn)
c.428C>A (p.Thr143Asn)
4g.52028084T>ACA356876257SGCBc.637A>T (p.Thr213Ser)
c.340A>T (p.Thr114Ser)
c.427A>T (p.Thr143Ser)
4g.52028084T>CCA356876259SGCBc.637A>G (p.Thr213Ala)
c.340A>G (p.Thr114Ala)
c.427A>G (p.Thr143Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.52028084T>GCA356876262SGCBc.637A>C (p.Thr213Pro)
c.340A>C (p.Thr114Pro)
c.427A>C (p.Thr143Pro)
4g.52028084T=CA1457429166SGCBc.637A= (p.Thr213=)
c.340A= (p.Thr114=)
c.427A= (p.Thr143=)
4g.52028085A>CCA439273825SGCBc.636T>G (p.Ala212=)
c.339T>G (p.Ala113=)
c.426T>G (p.Ala142=)
4g.52028085A>GCA439273827SGCBc.636T>C (p.Ala212=)
c.339T>C (p.Ala113=)
c.426T>C (p.Ala142=)
 ClinVar
4g.52028085A>TCA439273826SGCBc.636T>A (p.Ala212=)
c.339T>A (p.Ala113=)
c.426T>A (p.Ala142=)
4g.52028086G>ACA356876263SGCBc.635C>T (p.Ala212Val)
c.338C>T (p.Ala113Val)
c.425C>T (p.Ala142Val)
4g.52028086G>CCA356876268SGCBc.635C>G (p.Ala212Gly)
c.338C>G (p.Ala113Gly)
c.425C>G (p.Ala142Gly)
4g.52028086G>TCA356876266SGCBc.635C>A (p.Ala212Asp)
c.338C>A (p.Ala113Asp)
c.425C>A (p.Ala142Asp)
4g.52028087C>ACA356876271SGCBc.634G>T (p.Ala212Ser)
c.337G>T (p.Ala113Ser)
c.424G>T (p.Ala142Ser)
4g.52028087C>GCA356876273SGCBc.634G>C (p.Ala212Pro)
c.337G>C (p.Ala113Pro)
c.424G>C (p.Ala142Pro)
4g.52028087C>TCA356876275SGCBc.634G>A (p.Ala212Thr)
c.337G>A (p.Ala113Thr)
c.424G>A (p.Ala142Thr)
 gnomAD v4
4g.52028088A=CA1457429167SGCBc.633T= (p.Asn211=)
c.336T= (p.Asn112=)
c.423T= (p.Asn141=)
4g.52028088A>CCA356876277SGCBc.633T>G (p.Asn211Lys)
c.336T>G (p.Asn112Lys)
c.423T>G (p.Asn141Lys)
4g.52028088A>GCA439273830SGCBc.633T>C (p.Asn211=)
c.336T>C (p.Asn112=)
c.423T>C (p.Asn141=)
4g.52028088A>TCA2918331SGCBc.633T>A (p.Asn211Lys)
c.336T>A (p.Asn112Lys)
c.423T>A (p.Asn141Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028089T>ACA356876280SGCBc.632A>T (p.Asn211Ile)
c.335A>T (p.Asn112Ile)
c.422A>T (p.Asn141Ile)
4g.52028089T>CCA2918332SGCBc.632A>G (p.Asn211Ser)
c.335A>G (p.Asn112Ser)
c.422A>G (p.Asn141Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028089T>GCA356876283SGCBc.632A>C (p.Asn211Thr)
c.335A>C (p.Asn112Thr)
c.422A>C (p.Asn141Thr)
4g.52028089T=CA1457429168SGCBc.632A= (p.Asn211=)
c.335A= (p.Asn112=)
c.422A= (p.Asn141=)
4g.52028090T>ACA356876285SGCBc.631A>T (p.Asn211Tyr)
c.334A>T (p.Asn112Tyr)
c.421A>T (p.Asn141Tyr)
4g.52028090T>CCA356876288SGCBc.631A>G (p.Asn211Asp)
c.334A>G (p.Asn112Asp)
c.421A>G (p.Asn141Asp)
4g.52028090T>GCA356876290SGCBc.631A>C (p.Asn211His)
c.334A>C (p.Asn112His)
c.421A>C (p.Asn141His)
4g.52028091G>ACA439273832SGCBc.630C>T (p.Ser210=)
c.333C>T (p.Ser111=)
c.420C>T (p.Ser140=)
 ClinVar dbSNP
4g.52028091G>CCA356876295SGCBc.630C>G (p.Ser210Arg)
c.333C>G (p.Ser111Arg)
c.420C>G (p.Ser140Arg)
 ClinVar
4g.52028091G>TCA356876293SGCBc.630C>A (p.Ser210Arg)
c.333C>A (p.Ser111Arg)
c.420C>A (p.Ser140Arg)
 ClinVar
4g.52028092C>ACA96781013SGCBc.629G>T (p.Ser210Ile)
c.332G>T (p.Ser111Ile)
c.419G>T (p.Ser140Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.52028092C=CA1457429169SGCBc.629G= (p.Ser210=)
c.332G= (p.Ser111=)
c.419G= (p.Ser140=)
4g.52028092C>GCA356876300SGCBc.629G>C (p.Ser210Thr)
c.332G>C (p.Ser111Thr)
c.419G>C (p.Ser140Thr)
4g.52028092C>TCA356876302SGCBc.629G>A (p.Ser210Asn)
c.332G>A (p.Ser111Asn)
c.419G>A (p.Ser140Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.52028095_52028102delCA2918333SGCBc.622_629del
c.325_332del
c.412_419del
 ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028093T>ACA356876305SGCBc.628A>T (p.Ser210Cys)
c.331A>T (p.Ser111Cys)
c.418A>T (p.Ser140Cys)
4g.52028093T>CCA356876307SGCBc.628A>G (p.Ser210Gly)
c.331A>G (p.Ser111Gly)
c.418A>G (p.Ser140Gly)
4g.52028093T>GCA356876308SGCBc.628A>C (p.Ser210Arg)
c.331A>C (p.Ser111Arg)
c.418A>C (p.Ser140Arg)
4g.52028094G>ACA439273834SGCBc.627C>T (p.Thr209=)
c.330C>T (p.Thr110=)
c.417C>T (p.Thr139=)
 ClinVar dbSNP gnomAD v4
4g.52028094G>CCA439273836SGCBc.627C>G (p.Thr209=)
c.330C>G (p.Thr110=)
c.417C>G (p.Thr139=)
4g.52028094G=CA1457429170SGCBc.627C= (p.Thr209=)
c.330C= (p.Thr110=)
c.417C= (p.Thr139=)
4g.52028094G>TCA439273833SGCBc.627C>A (p.Thr209=)
c.330C>A (p.Thr110=)
c.417C>A (p.Thr139=)
4g.52028095G>ACA356876310SGCBc.626C>T (p.Thr209Ile)
c.329C>T (p.Thr110Ile)
c.416C>T (p.Thr139Ile)
 ClinVar dbSNP
4g.52028095G>CCA356876311SGCBc.626C>G (p.Thr209Ser)
c.329C>G (p.Thr110Ser)
c.416C>G (p.Thr139Ser)
4g.52028095G>TCA356876313SGCBc.626C>A (p.Thr209Asn)
c.329C>A (p.Thr110Asn)
c.416C>A (p.Thr139Asn)
4g.52028096T>ACA356876315SGCBc.625A>T (p.Thr209Ser)
c.328A>T (p.Thr110Ser)
c.415A>T (p.Thr139Ser)
4g.52028096T>CCA356876318SGCBc.625A>G (p.Thr209Ala)
c.328A>G (p.Thr110Ala)
c.415A>G (p.Thr139Ala)
4g.52028096T>GCA356876316SGCBc.625A>C (p.Thr209Pro)
c.328A>C (p.Thr110Pro)
c.415A>C (p.Thr139Pro)
4g.52028097A>CCA356876320SGCBc.624T>G (p.Ile208Met)
c.327T>G (p.Ile109Met)
c.414T>G (p.Ile138Met)
4g.52028097A>GCA439273839SGCBc.624T>C (p.Ile208=)
c.327T>C (p.Ile109=)
c.414T>C (p.Ile138=)
4g.52028097A>TCA439273840SGCBc.624T>A (p.Ile208=)
c.327T>A (p.Ile109=)
c.414T>A (p.Ile138=)
4g.52028098A>CCA356876322SGCBc.623T>G (p.Ile208Ser)
c.326T>G (p.Ile109Ser)
c.413T>G (p.Ile138Ser)
4g.52028098A>GCA356876324SGCBc.623T>C (p.Ile208Thr)
c.326T>C (p.Ile109Thr)
c.413T>C (p.Ile138Thr)
4g.52028098A>TCA356876327SGCBc.623T>A (p.Ile208Asn)
c.326T>A (p.Ile109Asn)
c.413T>A (p.Ile138Asn)
4g.52028099T>ACA356876328SGCBc.622A>T (p.Ile208Phe)
c.325A>T (p.Ile109Phe)
c.412A>T (p.Ile138Phe)
4g.52028099T>CCA356876332SGCBc.622A>G (p.Ile208Val)
c.325A>G (p.Ile109Val)
c.412A>G (p.Ile138Val)
4g.52028099T>GCA356876329SGCBc.622A>C (p.Ile208Leu)
c.325A>C (p.Ile109Leu)
c.412A>C (p.Ile138Leu)
4g.52028100C>ACA356876335SGCBc.622-1G>T (n.622-1G>T)
c.325-1G>T (n.325-1G>T)
c.412-1G>T (n.412-1G>T)
 ClinVar
4g.52028100C>GCA356876337SGCBc.622-1G>C (n.622-1G>C)
c.325-1G>C (n.325-1G>C)
c.412-1G>C (n.412-1G>C)
 ClinVar dbSNP
4g.52028100C>TCA356876339SGCBc.622-1G>A (n.622-1G>A)
c.325-1G>A (n.325-1G>A)
c.412-1G>A (n.412-1G>A)
4g.52028100_52028101insCTTTCAGTAGATGCCTTTCA2670598635SGCBc.622-2_622-1insAAAGGCATCTACTGAAAG (n.622-2_622-1insAAAGGCATCTACTGAAAG)
c.325-2_325-1insAAAGGCATCTACTGAAAG (n.325-2_325-1insAAAGGCATCTACTGAAAG)
c.412-2_412-1insAAAGGCATCTACTGAAAG (n.412-2_412-1insAAAGGCATCTACTGAAAG)
 gnomAD v4
4g.52028101T>ACA356876341SGCBc.622-2A>T (n.622-2A>T)
c.325-2A>T (n.325-2A>T)
c.412-2A>T (n.412-2A>T)
4g.52028101T>CCA2918334SGCBc.622-2A>G (n.622-2A>G)
c.325-2A>G (n.325-2A>G)
c.412-2A>G (n.412-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028101T>GCA356876345SGCBc.622-2A>C (n.622-2A>C)
c.325-2A>C (n.325-2A>C)
c.412-2A>C (n.412-2A>C)
4g.52028101T=CA1457429171SGCBc.622-2A= (n.622-2A=)
c.325-2A= (n.325-2A=)
c.412-2A= (n.412-2A=)
4g.52028106A=CA1457429172SGCBc.622-7T= (n.622-7T=)
c.325-7T= (n.325-7T=)
c.412-7T= (n.412-7T=)
4g.52028106A>CCA2918335SGCBc.622-7T>G (n.622-7T>G)
c.325-7T>G (n.325-7T>G)
c.412-7T>G (n.412-7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028107T>CCA2670598636SGCBc.622-8A>G (n.622-8A>G)
c.325-8A>G (n.325-8A>G)
c.412-8A>G (n.412-8A>G)
 gnomAD v4
4g.52028108T>CCA2670598637SGCBc.622-9A>G (n.622-9A>G)
c.325-9A>G (n.325-9A>G)
c.412-9A>G (n.412-9A>G)
 gnomAD v4
4g.52028108T>GCA796078615SGCBc.622-9A>C (n.622-9A>C)
c.325-9A>C (n.325-9A>C)
c.412-9A>C (n.412-9A>C)
 dbSNP gnomAD v3 gnomAD v4
4g.52028108T=CA1457429173SGCBc.622-9A= (n.622-9A=)
c.325-9A= (n.325-9A=)
c.412-9A= (n.412-9A=)
4g.52028109T>CCA2670598638SGCBc.622-10A>G (n.622-10A>G)
c.325-10A>G (n.325-10A>G)
c.412-10A>G (n.412-10A>G)
 ClinVar gnomAD v4
4g.52028109_52028110delinsTACA1457429174SGCBc.622-11_622-10delinsTA (n.622-11_622-10delinsTA)
c.325-11_325-10delinsTA (n.325-11_325-10delinsTA)
c.412-11_412-10delinsTA (n.412-11_412-10delinsTA)
4g.52028110A=CA1457429175SGCBc.622-11T= (n.622-11T=)
c.325-11T= (n.325-11T=)
c.412-11T= (n.412-11T=)
4g.52028110A>TCA2918336SGCBc.622-11T>A (n.622-11T>A)
c.325-11T>A (n.325-11T>A)
c.412-11T>A (n.412-11T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028115dupCA551340690SGCBc.622-11dup (n.622-11dup)
c.325-11dup (n.325-11dup)
c.412-11dup (n.412-11dup)
 dbSNP gnomAD v2 gnomAD v4
4g.52028115delCA796078620SGCBc.622-11del (n.622-11del)
c.325-11del (n.325-11del)
c.412-11del (n.412-11del)
 ClinVar dbSNP gnomAD v4
4g.52028111A=CA1457429176SGCBc.622-12T= (n.622-12T=)
c.325-12T= (n.325-12T=)
c.412-12T= (n.412-12T=)
4g.52028111A>CCA2918337SGCBc.622-12T>G (n.622-12T>G)
c.325-12T>G (n.325-12T>G)
c.412-12T>G (n.412-12T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028114A=CA1457429177SGCBc.622-15T= (n.622-15T=)
c.325-15T= (n.325-15T=)
c.412-15T= (n.412-15T=)
4g.52028114A>CCA1062470155SGCBc.622-15T>G (n.622-15T>G)
c.325-15T>G (n.325-15T>G)
c.412-15T>G (n.412-15T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.52028115A=CA1457429178SGCBc.622-16T= (n.622-16T=)
c.325-16T= (n.325-16T=)
c.412-16T= (n.412-16T=)
4g.52028115A>GCA2918338SGCBc.622-16T>C (n.622-16T>C)
c.325-16T>C (n.325-16T>C)
c.412-16T>C (n.412-16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028116C>ACA2918339SGCBc.622-17G>T (n.622-17G>T)
c.325-17G>T (n.325-17G>T)
c.412-17G>T (n.412-17G>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
4g.52028116C=CA1457429179SGCBc.622-17G= (n.622-17G=)
c.325-17G= (n.325-17G=)
c.412-17G= (n.412-17G=)
4g.52028116C>GCA551340704SGCBc.622-17G>C (n.622-17G>C)
c.325-17G>C (n.325-17G>C)
c.412-17G>C (n.412-17G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52028116C>TCA551340708SGCBc.622-17G>A (n.622-17G>A)
c.325-17G>A (n.325-17G>A)
c.412-17G>A (n.412-17G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.52028118A>GCA2578086612SGCBc.622-19T>C (n.622-19T>C)
c.325-19T>C (n.325-19T>C)
c.412-19T>C (n.412-19T>C)
 gnomAD v4
4g.52028121_52028132delCA2573137891SGCBc.622-30_622-19del (n.622-30_622-19del)
c.325-30_325-19del (n.325-30_325-19del)
c.412-30_412-19del (n.412-30_412-19del)
 ClinVar dbSNP
4g.52028119G>ACA2761641251SGCBc.622-20C>T (n.622-20C>T)
c.325-20C>T (n.325-20C>T)
c.412-20C>T (n.412-20C>T)
4g.52028119G=CA1457429180SGCBc.622-20C= (n.622-20C=)
c.325-20C= (n.325-20C=)
c.412-20C= (n.412-20C=)
4g.52028119G>TCA96781042SGCBc.622-20C>A (n.622-20C>A)
c.325-20C>A (n.325-20C>A)
c.412-20C>A (n.412-20C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52028120T>ACA2761641252SGCBc.622-21A>T (n.622-21A>T)
c.325-21A>T (n.325-21A>T)
c.412-21A>T (n.412-21A>T)
4g.52028120T>CCA551340711SGCBc.622-21A>G (n.622-21A>G)
c.325-21A>G (n.325-21A>G)
c.412-21A>G (n.412-21A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.52028120T=CA1457429181SGCBc.622-21A= (n.622-21A=)
c.325-21A= (n.325-21A=)
c.412-21A= (n.412-21A=)
4g.52028122C=CA1457429182SGCBc.622-23G= (n.622-23G=)
c.325-23G= (n.325-23G=)
c.412-23G= (n.412-23G=)
4g.52028122C>GCA1457429183SGCBc.622-23G>C (n.622-23G>C)
c.325-23G>C (n.325-23G>C)
c.412-23G>C (n.412-23G>C)
 dbSNP gnomAD v4
4g.52028122C>TCA2918340SGCBc.622-23G>A (n.622-23G>A)
c.325-23G>A (n.325-23G>A)
c.412-23G>A (n.412-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028123T>ACA2578086613SGCBc.622-24A>T (n.622-24A>T)
c.325-24A>T (n.325-24A>T)
c.412-24A>T (n.412-24A>T)
4g.52028123T>CCA96781062SGCBc.622-24A>G (n.622-24A>G)
c.325-24A>G (n.325-24A>G)
c.412-24A>G (n.412-24A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.52028123T=CA1457429184SGCBc.622-24A= (n.622-24A=)
c.325-24A= (n.325-24A=)
c.412-24A= (n.412-24A=)
4g.52028124A=CA1457429185SGCBc.622-25T= (n.622-25T=)
c.325-25T= (n.325-25T=)
c.412-25T= (n.412-25T=)
4g.52028124A>GCA2918341SGCBc.622-25T>C (n.622-25T>C)
c.325-25T>C (n.325-25T>C)
c.412-25T>C (n.412-25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028125A=CA1457429186SGCBc.622-26T= (n.622-26T=)
c.325-26T= (n.325-26T=)
c.412-26T= (n.412-26T=)
4g.52028125A>TCA551340722SGCBc.622-26T>A (n.622-26T>A)
c.325-26T>A (n.325-26T>A)
c.412-26T>A (n.412-26T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.52028126A=CA1457429187SGCBc.622-27T= (n.622-27T=)
c.325-27T= (n.325-27T=)
c.412-27T= (n.412-27T=)
4g.52028126A>GCA551340725SGCBc.622-27T>C (n.622-27T>C)
c.325-27T>C (n.325-27T>C)
c.412-27T>C (n.412-27T>C)
 dbSNP gnomAD v2
4g.52028127A=CA1457429188SGCBc.622-28T= (n.622-28T=)
c.325-28T= (n.325-28T=)
c.412-28T= (n.412-28T=)
4g.52028127A>GCA551340730SGCBc.622-28T>C (n.622-28T>C)
c.325-28T>C (n.325-28T>C)
c.412-28T>C (n.412-28T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028128A=CA1457429189SGCBc.622-29T= (n.622-29T=)
c.325-29T= (n.325-29T=)
c.412-29T= (n.412-29T=)
4g.52028128A>GCA1457429190SGCBc.622-29T>C (n.622-29T>C)
c.325-29T>C (n.325-29T>C)
c.412-29T>C (n.412-29T>C)
 dbSNP
4g.52028129G>CCA439273843SGCBc.622-30C>G (n.622-30C>G)
c.325-30C>G (n.325-30C>G)
c.412-30C>G (n.412-30C>G)
 gnomAD v4
4g.52028129G>TCA2670598639SGCBc.622-30C>A (n.622-30C>A)
c.325-30C>A (n.325-30C>A)
c.412-30C>A (n.412-30C>A)
 gnomAD v4
4g.52028131G>ACA2918342SGCBc.622-32C>T (n.622-32C>T)
c.325-32C>T (n.325-32C>T)
c.412-32C>T (n.412-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028131G=CA1457429191SGCBc.622-32C= (n.622-32C=)
c.325-32C= (n.325-32C=)
c.412-32C= (n.412-32C=)
4g.52028131G>TCA2578086614SGCBc.622-32C>A (n.622-32C>A)
c.325-32C>A (n.325-32C>A)
c.412-32C>A (n.412-32C>A)
 gnomAD v4
4g.52028132T>CCA2670598640SGCBc.622-33A>G (n.622-33A>G)
c.325-33A>G (n.325-33A>G)
c.412-33A>G (n.412-33A>G)
 gnomAD v4
4g.52028134T>CCA2670598641SGCBc.622-35A>G (n.622-35A>G)
c.325-35A>G (n.325-35A>G)
c.412-35A>G (n.412-35A>G)
 gnomAD v4
4g.52028134T>GCA2918343SGCBc.622-35A>C (n.622-35A>C)
c.325-35A>C (n.325-35A>C)
c.412-35A>C (n.412-35A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028134T=CA1457429192SGCBc.622-35A= (n.622-35A=)
c.325-35A= (n.325-35A=)
c.412-35A= (n.412-35A=)
4g.52028135C=CA1457429193SGCBc.622-36G= (n.622-36G=)
c.325-36G= (n.325-36G=)
c.412-36G= (n.412-36G=)
4g.52028135C>GCA96781077SGCBc.622-36G>C (n.622-36G>C)
c.325-36G>C (n.325-36G>C)
c.412-36G>C (n.412-36G>C)
 dbSNP gnomAD v4
4g.52028135C>TCA2918344SGCBc.622-36G>A (n.622-36G>A)
c.325-36G>A (n.325-36G>A)
c.412-36G>A (n.412-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028137A>GCA2670598642SGCBc.622-38T>C (n.622-38T>C)
c.325-38T>C (n.325-38T>C)
c.412-38T>C (n.412-38T>C)
 gnomAD v4
4g.52028138A=CA1457429194SGCBc.622-39T= (n.622-39T=)
c.325-39T= (n.325-39T=)
c.412-39T= (n.412-39T=)
4g.52028138A>TCA2918345SGCBc.622-39T>A (n.622-39T>A)
c.325-39T>A (n.325-39T>A)
c.412-39T>A (n.412-39T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028140T>GCA2670598643SGCBc.622-41A>C (n.622-41A>C)
c.325-41A>C (n.325-41A>C)
c.412-41A>C (n.412-41A>C)
 gnomAD v4
4g.52028143A>GCA2670598644SGCBc.622-44T>C (n.622-44T>C)
c.325-44T>C (n.325-44T>C)
c.412-44T>C (n.412-44T>C)
 gnomAD v4
4g.52028145G=CA1457429195SGCBc.622-46C= (n.622-46C=)
c.325-46C= (n.325-46C=)
c.412-46C= (n.412-46C=)
4g.52028145G>TCA551340739SGCBc.622-46C>A (n.622-46C>A)
c.325-46C>A (n.325-46C>A)
c.412-46C>A (n.412-46C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028146T>ACA2670598646SGCBc.622-47A>T (n.622-47A>T)
c.325-47A>T (n.325-47A>T)
c.412-47A>T (n.412-47A>T)
 gnomAD v4
4g.52028146T>GCA2670598645SGCBc.622-47A>C (n.622-47A>C)
c.325-47A>C (n.325-47A>C)
c.412-47A>C (n.412-47A>C)
 gnomAD v4

Number of alleles fetched