Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55957309C>ACA385217666PMELc.994G>T (p.Val332Phe)
c.847G>T (p.Val283Phe)
c.832G>T (p.Val278Phe)
c.547G>T (p.Val183Phe)
c.656G>T
n.34G>T
c.358+1164G>T (n.358+1164G>T)
c.736G>T (p.Val246Phe)
n.730G>T
12g.55957309C=CA2038181492PMELc.994G= (p.Val332=)
c.847G= (p.Val283=)
c.832G= (p.Val278=)
c.547G= (p.Val183=)
c.656G=
n.34G=
c.358+1164G= (n.358+1164G=)
c.736G= (p.Val246=)
n.730G=
12g.55957309C>GCA385217663PMELc.994G>C (p.Val332Leu)
c.847G>C (p.Val283Leu)
c.832G>C (p.Val278Leu)
c.547G>C (p.Val183Leu)
c.656G>C
n.34G>C
c.358+1164G>C (n.358+1164G>C)
c.736G>C (p.Val246Leu)
n.730G>C
12g.55957309C>TCA6620091PMELc.994G>A (p.Val332Ile)
c.847G>A (p.Val283Ile)
c.832G>A (p.Val278Ile)
c.547G>A (p.Val183Ile)
c.656G>A
n.34G>A
c.358+1164G>A (n.358+1164G>A)
c.736G>A (p.Val246Ile)
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957310T>ACA385217667PMELc.993A>T (p.Glu331Asp)
c.846A>T (p.Glu282Asp)
c.831A>T (p.Glu277Asp)
c.546A>T (p.Glu182Asp)
c.655A>T
n.33A>T
c.358+1163A>T (n.358+1163A>T)
c.735A>T (p.Glu245Asp)
n.729A>T
12g.55957310T>CCA480364945PMELc.993A>G (p.Glu331=)
c.846A>G (p.Glu282=)
c.831A>G (p.Glu277=)
c.546A>G (p.Glu182=)
c.655A>G
n.33A>G
c.358+1163A>G (n.358+1163A>G)
c.735A>G (p.Glu245=)
n.729A>G
12g.55957310T>GCA385217668PMELc.993A>C (p.Glu331Asp)
c.846A>C (p.Glu282Asp)
c.831A>C (p.Glu277Asp)
c.546A>C (p.Glu182Asp)
c.655A>C
n.33A>C
c.358+1163A>C (n.358+1163A>C)
c.735A>C (p.Glu245Asp)
n.729A>C
12g.55957311T>ACA385217671PMELc.992A>T (p.Glu331Val)
c.845A>T (p.Glu282Val)
c.830A>T (p.Glu277Val)
c.545A>T (p.Glu182Val)
c.654A>T
n.32A>T
c.358+1162A>T (n.358+1162A>T)
c.734A>T (p.Glu245Val)
n.728A>T
12g.55957311T>CCA385217672PMELc.992A>G (p.Glu331Gly)
c.845A>G (p.Glu282Gly)
c.830A>G (p.Glu277Gly)
c.545A>G (p.Glu182Gly)
c.654A>G
n.32A>G
c.358+1162A>G (n.358+1162A>G)
c.734A>G (p.Glu245Gly)
n.728A>G
12g.55957311T>GCA385217674PMELc.992A>C (p.Glu331Ala)
c.845A>C (p.Glu282Ala)
c.830A>C (p.Glu277Ala)
c.545A>C (p.Glu182Ala)
c.654A>C
n.32A>C
c.358+1162A>C (n.358+1162A>C)
c.734A>C (p.Glu245Ala)
n.728A>C
12g.55957312C>ACA385217675PMELc.991G>T (p.Glu331Ter)
c.844G>T (p.Glu282Ter)
c.829G>T (p.Glu277Ter)
c.544G>T (p.Glu182Ter)
c.653G>T
n.31G>T
c.358+1161G>T (n.358+1161G>T)
c.733G>T (p.Glu245Ter)
n.727G>T
12g.55957312C>GCA385217678PMELc.991G>C (p.Glu331Gln)
c.844G>C (p.Glu282Gln)
c.829G>C (p.Glu277Gln)
c.544G>C (p.Glu182Gln)
c.653G>C
n.31G>C
c.358+1161G>C (n.358+1161G>C)
c.733G>C (p.Glu245Gln)
n.727G>C
12g.55957312C>TCA385217677PMELc.991G>A (p.Glu331Lys)
c.844G>A (p.Glu282Lys)
c.829G>A (p.Glu277Lys)
c.544G>A (p.Glu182Lys)
c.653G>A
n.31G>A
c.358+1161G>A (n.358+1161G>A)
c.733G>A (p.Glu245Lys)
n.727G>A
12g.55957313T>ACA480364950PMELc.990A>T (p.Thr330=)
c.843A>T (p.Thr281=)
c.828A>T (p.Thr276=)
c.543A>T (p.Thr181=)
c.652A>T
n.30A>T
c.358+1160A>T (n.358+1160A>T)
c.732A>T (p.Thr244=)
n.726A>T
12g.55957313T>CCA6620092PMELc.990A>G (p.Thr330=)
c.843A>G (p.Thr281=)
c.828A>G (p.Thr276=)
c.543A>G (p.Thr181=)
c.652A>G
n.30A>G
c.358+1160A>G (n.358+1160A>G)
c.732A>G (p.Thr244=)
n.726A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957313T>GCA480364951PMELc.990A>C (p.Thr330=)
c.843A>C (p.Thr281=)
c.828A>C (p.Thr276=)
c.543A>C (p.Thr181=)
c.652A>C
n.30A>C
c.358+1160A>C (n.358+1160A>C)
c.732A>C (p.Thr244=)
n.726A>C
12g.55957313T=CA2038181497PMELc.990A= (p.Thr330=)
c.843A= (p.Thr281=)
c.828A= (p.Thr276=)
c.543A= (p.Thr181=)
c.652A=
n.30A=
c.358+1160A= (n.358+1160A=)
c.732A= (p.Thr244=)
n.726A=
12g.55957314G>ACA237591030PMELc.989C>T (p.Thr330Ile)
c.842C>T (p.Thr281Ile)
c.827C>T (p.Thr276Ile)
c.542C>T (p.Thr181Ile)
c.651C>T
n.29C>T
c.358+1159C>T (n.358+1159C>T)
c.731C>T (p.Thr244Ile)
n.725C>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957314G>CCA385217681PMELc.989C>G (p.Thr330Arg)
c.842C>G (p.Thr281Arg)
c.827C>G (p.Thr276Arg)
c.542C>G (p.Thr181Arg)
c.651C>G
n.29C>G
c.358+1159C>G (n.358+1159C>G)
c.731C>G (p.Thr244Arg)
n.725C>G
12g.55957314G=CA2038181501PMELc.989C= (p.Thr330=)
c.842C= (p.Thr281=)
c.827C= (p.Thr276=)
c.542C= (p.Thr181=)
c.651C=
n.29C=
c.358+1159C= (n.358+1159C=)
c.731C= (p.Thr244=)
n.725C=
12g.55957314G>TCA385217683PMELc.989C>A (p.Thr330Lys)
c.842C>A (p.Thr281Lys)
c.827C>A (p.Thr276Lys)
c.542C>A (p.Thr181Lys)
c.651C>A
n.29C>A
c.358+1159C>A (n.358+1159C>A)
c.731C>A (p.Thr244Lys)
n.725C>A
12g.55957315T>ACA385217685PMELc.988A>T (p.Thr330Ser)
c.841A>T (p.Thr281Ser)
c.826A>T (p.Thr276Ser)
c.541A>T (p.Thr181Ser)
c.650A>T
n.28A>T
c.358+1158A>T (n.358+1158A>T)
c.730A>T (p.Thr244Ser)
n.724A>T
12g.55957315T>CCA385217687PMELc.988A>G (p.Thr330Ala)
c.841A>G (p.Thr281Ala)
c.826A>G (p.Thr276Ala)
c.541A>G (p.Thr181Ala)
c.650A>G
n.28A>G
c.358+1158A>G (n.358+1158A>G)
c.730A>G (p.Thr244Ala)
n.724A>G
 gnomAD v4
12g.55957315T>GCA385217686PMELc.988A>C (p.Thr330Pro)
c.841A>C (p.Thr281Pro)
c.826A>C (p.Thr276Pro)
c.541A>C (p.Thr181Pro)
c.650A>C
n.28A>C
c.358+1158A>C (n.358+1158A>C)
c.730A>C (p.Thr244Pro)
n.724A>C
12g.55957316A=CA2038181502PMELc.987T= (p.Thr329=)
c.840T= (p.Thr280=)
c.825T= (p.Thr275=)
c.540T= (p.Thr180=)
c.649T=
n.27T=
c.358+1157T= (n.358+1157T=)
c.729T= (p.Thr243=)
n.723T=
12g.55957316A>CCA480364953PMELc.987T>G (p.Thr329=)
c.840T>G (p.Thr280=)
c.825T>G (p.Thr275=)
c.540T>G (p.Thr180=)
c.649T>G
n.27T>G
c.358+1157T>G (n.358+1157T>G)
c.729T>G (p.Thr243=)
n.723T>G
 gnomAD v4
12g.55957316A>GCA480364954PMELc.987T>C (p.Thr329=)
c.840T>C (p.Thr280=)
c.825T>C (p.Thr275=)
c.540T>C (p.Thr180=)
c.649T>C
n.27T>C
c.358+1157T>C (n.358+1157T>C)
c.729T>C (p.Thr243=)
n.723T>C
 dbSNP gnomAD v3 gnomAD v4
12g.55957316A>TCA480364956PMELc.987T>A (p.Thr329=)
c.840T>A (p.Thr280=)
c.825T>A (p.Thr275=)
c.540T>A (p.Thr180=)
c.649T>A
n.27T>A
c.358+1157T>A (n.358+1157T>A)
c.729T>A (p.Thr243=)
n.723T>A
12g.55957317G>ACA385217689PMELc.986C>T (p.Thr329Ile)
c.839C>T (p.Thr280Ile)
c.824C>T (p.Thr275Ile)
c.539C>T (p.Thr180Ile)
c.648C>T
n.26C>T
c.358+1156C>T (n.358+1156C>T)
c.728C>T (p.Thr243Ile)
n.722C>T
12g.55957317G>CCA385217690PMELc.986C>G (p.Thr329Ser)
c.839C>G (p.Thr280Ser)
c.824C>G (p.Thr275Ser)
c.539C>G (p.Thr180Ser)
c.648C>G
n.26C>G
c.358+1156C>G (n.358+1156C>G)
c.728C>G (p.Thr243Ser)
n.722C>G
12g.55957317G>TCA385217692PMELc.986C>A (p.Thr329Asn)
c.839C>A (p.Thr280Asn)
c.824C>A (p.Thr275Asn)
c.539C>A (p.Thr180Asn)
c.648C>A
n.26C>A
c.358+1156C>A (n.358+1156C>A)
c.728C>A (p.Thr243Asn)
n.722C>A
12g.55957318T>ACA385217693PMELc.985A>T (p.Thr329Ser)
c.838A>T (p.Thr280Ser)
c.823A>T (p.Thr275Ser)
c.538A>T (p.Thr180Ser)
c.647A>T
n.25A>T
c.358+1155A>T (n.358+1155A>T)
c.727A>T (p.Thr243Ser)
n.721A>T
12g.55957318T>CCA385217694PMELc.985A>G (p.Thr329Ala)
c.838A>G (p.Thr280Ala)
c.823A>G (p.Thr275Ala)
c.538A>G (p.Thr180Ala)
c.647A>G
n.25A>G
c.358+1155A>G (n.358+1155A>G)
c.727A>G (p.Thr243Ala)
n.721A>G
12g.55957318T>GCA385217695PMELc.985A>C (p.Thr329Pro)
c.838A>C (p.Thr280Pro)
c.823A>C (p.Thr275Pro)
c.538A>C (p.Thr180Pro)
c.647A>C
n.25A>C
c.358+1155A>C (n.358+1155A>C)
c.727A>C (p.Thr243Pro)
n.721A>C
12g.55957319A>CCA480364957PMELc.984T>G (p.Pro328=)
c.837T>G (p.Pro279=)
c.822T>G (p.Pro274=)
c.537T>G (p.Pro179=)
c.646T>G
n.24T>G
c.358+1154T>G (n.358+1154T>G)
c.726T>G (p.Pro242=)
n.720T>G
12g.55957319A>GCA480364958PMELc.984T>C (p.Pro328=)
c.837T>C (p.Pro279=)
c.822T>C (p.Pro274=)
c.537T>C (p.Pro179=)
c.646T>C
n.24T>C
c.358+1154T>C (n.358+1154T>C)
c.726T>C (p.Pro242=)
n.720T>C
12g.55957319A>TCA480364959PMELc.984T>A (p.Pro328=)
c.837T>A (p.Pro279=)
c.822T>A (p.Pro274=)
c.537T>A (p.Pro179=)
c.646T>A
n.24T>A
c.358+1154T>A (n.358+1154T>A)
c.726T>A (p.Pro242=)
n.720T>A
12g.55957320G>ACA385217697PMELc.983C>T (p.Pro328Leu)
c.836C>T (p.Pro279Leu)
c.821C>T (p.Pro274Leu)
c.536C>T (p.Pro179Leu)
c.645C>T
n.23C>T
c.358+1153C>T (n.358+1153C>T)
c.725C>T (p.Pro242Leu)
n.719C>T
12g.55957320G>CCA385217698PMELc.983C>G (p.Pro328Arg)
c.836C>G (p.Pro279Arg)
c.821C>G (p.Pro274Arg)
c.536C>G (p.Pro179Arg)
c.645C>G
n.23C>G
c.358+1153C>G (n.358+1153C>G)
c.725C>G (p.Pro242Arg)
n.719C>G
12g.55957320G>TCA385217700PMELc.983C>A (p.Pro328His)
c.836C>A (p.Pro279His)
c.821C>A (p.Pro274His)
c.536C>A (p.Pro179His)
c.645C>A
n.23C>A
c.358+1153C>A (n.358+1153C>A)
c.725C>A (p.Pro242His)
n.719C>A
12g.55957321G>ACA385217701PMELc.982C>T (p.Pro328Ser)
c.835C>T (p.Pro279Ser)
c.820C>T (p.Pro274Ser)
c.535C>T (p.Pro179Ser)
c.644C>T
n.22C>T
c.358+1152C>T (n.358+1152C>T)
c.724C>T (p.Pro242Ser)
n.718C>T
12g.55957321G>CCA385217704PMELc.982C>G (p.Pro328Ala)
c.835C>G (p.Pro279Ala)
c.820C>G (p.Pro274Ala)
c.535C>G (p.Pro179Ala)
c.644C>G
n.22C>G
c.358+1152C>G (n.358+1152C>G)
c.724C>G (p.Pro242Ala)
n.718C>G
12g.55957321G>TCA385217707PMELc.982C>A (p.Pro328Thr)
c.835C>A (p.Pro279Thr)
c.820C>A (p.Pro274Thr)
c.535C>A (p.Pro179Thr)
c.644C>A
n.22C>A
c.358+1152C>A (n.358+1152C>A)
c.724C>A (p.Pro242Thr)
n.718C>A
 gnomAD v4
12g.55957322C>ACA480364965PMELc.981G>T (p.Val327=)
c.834G>T (p.Val278=)
c.819G>T (p.Val273=)
c.534G>T (p.Val178=)
c.643G>T
n.21G>T
c.358+1151G>T (n.358+1151G>T)
c.723G>T (p.Val241=)
n.717G>T
12g.55957322C>GCA480364961PMELc.981G>C (p.Val327=)
c.834G>C (p.Val278=)
c.819G>C (p.Val273=)
c.534G>C (p.Val178=)
c.643G>C
n.21G>C
c.358+1151G>C (n.358+1151G>C)
c.723G>C (p.Val241=)
n.717G>C
12g.55957322C>TCA480364963PMELc.981G>A (p.Val327=)
c.834G>A (p.Val278=)
c.819G>A (p.Val273=)
c.534G>A (p.Val178=)
c.643G>A
n.21G>A
c.358+1151G>A (n.358+1151G>A)
c.723G>A (p.Val241=)
n.717G>A
 gnomAD v4
12g.55957323A>CCA385217710PMELc.980T>G (p.Val327Gly)
c.833T>G (p.Val278Gly)
c.818T>G (p.Val273Gly)
c.533T>G (p.Val178Gly)
c.642T>G
n.20T>G
c.358+1150T>G (n.358+1150T>G)
c.722T>G (p.Val241Gly)
n.716T>G
12g.55957323A>GCA385217712PMELc.980T>C (p.Val327Ala)
c.833T>C (p.Val278Ala)
c.818T>C (p.Val273Ala)
c.533T>C (p.Val178Ala)
c.642T>C
n.20T>C
c.358+1150T>C (n.358+1150T>C)
c.722T>C (p.Val241Ala)
n.716T>C
12g.55957323A>TCA385217708PMELc.980T>A (p.Val327Glu)
c.833T>A (p.Val278Glu)
c.818T>A (p.Val273Glu)
c.533T>A (p.Val178Glu)
c.642T>A
n.20T>A
c.358+1150T>A (n.358+1150T>A)
c.722T>A (p.Val241Glu)
n.716T>A
12g.55957324C>ACA385217713PMELc.979G>T (p.Val327Leu)
c.832G>T (p.Val278Leu)
c.817G>T (p.Val273Leu)
c.532G>T (p.Val178Leu)
c.641G>T
n.19G>T
c.358+1149G>T (n.358+1149G>T)
c.721G>T (p.Val241Leu)
n.715G>T
12g.55957324C=CA2038181503PMELc.979G= (p.Val327=)
c.832G= (p.Val278=)
c.817G= (p.Val273=)
c.532G= (p.Val178=)
c.641G=
n.19G=
c.358+1149G= (n.358+1149G=)
c.721G= (p.Val241=)
n.715G=
12g.55957324C>GCA385217716PMELc.979G>C (p.Val327Leu)
c.832G>C (p.Val278Leu)
c.817G>C (p.Val273Leu)
c.532G>C (p.Val178Leu)
c.641G>C
n.19G>C
c.358+1149G>C (n.358+1149G>C)
c.721G>C (p.Val241Leu)
n.715G>C
 dbSNP
12g.55957324C>TCA385217715PMELc.979G>A (p.Val327Met)
c.832G>A (p.Val278Met)
c.817G>A (p.Val273Met)
c.532G>A (p.Val178Met)
c.641G>A
n.19G>A
c.358+1149G>A (n.358+1149G>A)
c.721G>A (p.Val241Met)
n.715G>A
12g.55957325T>ACA385217717PMELc.978A>T (p.Gln326His)
c.831A>T (p.Gln277His)
c.816A>T (p.Gln272His)
c.531A>T (p.Gln177His)
c.640A>T
n.18A>T
c.358+1148A>T (n.358+1148A>T)
c.720A>T (p.Gln240His)
n.714A>T
12g.55957325T>CCA480364968PMELc.978A>G (p.Gln326=)
c.831A>G (p.Gln277=)
c.816A>G (p.Gln272=)
c.531A>G (p.Gln177=)
c.640A>G
n.18A>G
c.358+1148A>G (n.358+1148A>G)
c.720A>G (p.Gln240=)
n.714A>G
12g.55957325T>GCA385217718PMELc.978A>C (p.Gln326His)
c.831A>C (p.Gln277His)
c.816A>C (p.Gln272His)
c.531A>C (p.Gln177His)
c.640A>C
n.18A>C
c.358+1148A>C (n.358+1148A>C)
c.720A>C (p.Gln240His)
n.714A>C
12g.55957326T>ACA385217720PMELc.977A>T (p.Gln326Leu)
c.830A>T (p.Gln277Leu)
c.815A>T (p.Gln272Leu)
c.530A>T (p.Gln177Leu)
c.639A>T
n.17A>T
c.358+1147A>T (n.358+1147A>T)
c.719A>T (p.Gln240Leu)
n.713A>T
12g.55957326T>CCA237591035PMELc.977A>G (p.Gln326Arg)
c.830A>G (p.Gln277Arg)
c.815A>G (p.Gln272Arg)
c.530A>G (p.Gln177Arg)
c.639A>G
n.17A>G
c.358+1147A>G (n.358+1147A>G)
c.719A>G (p.Gln240Arg)
n.713A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957326T>GCA385217722PMELc.977A>C (p.Gln326Pro)
c.830A>C (p.Gln277Pro)
c.815A>C (p.Gln272Pro)
c.530A>C (p.Gln177Pro)
c.639A>C
n.17A>C
c.358+1147A>C (n.358+1147A>C)
c.719A>C (p.Gln240Pro)
n.713A>C
12g.55957326T=CA2038181506PMELc.977A= (p.Gln326=)
c.830A= (p.Gln277=)
c.815A= (p.Gln272=)
c.530A= (p.Gln177=)
c.639A=
n.17A=
c.358+1147A= (n.358+1147A=)
c.719A= (p.Gln240=)
n.713A=
12g.55957327G>ACA385217724PMELc.976C>T (p.Gln326Ter)
c.829C>T (p.Gln277Ter)
c.814C>T (p.Gln272Ter)
c.529C>T (p.Gln177Ter)
c.638C>T
n.16C>T
c.358+1146C>T (n.358+1146C>T)
c.718C>T (p.Gln240Ter)
n.712C>T
12g.55957327G>CCA385217726PMELc.976C>G (p.Gln326Glu)
c.829C>G (p.Gln277Glu)
c.814C>G (p.Gln272Glu)
c.529C>G (p.Gln177Glu)
c.638C>G
n.16C>G
c.358+1146C>G (n.358+1146C>G)
c.718C>G (p.Gln240Glu)
n.712C>G
12g.55957327G>TCA385217727PMELc.976C>A (p.Gln326Lys)
c.829C>A (p.Gln277Lys)
c.814C>A (p.Gln272Lys)
c.529C>A (p.Gln177Lys)
c.638C>A
n.16C>A
c.358+1146C>A (n.358+1146C>A)
c.718C>A (p.Gln240Lys)
n.712C>A
12g.55957328G>ACA480364972PMELc.975C>T (p.Gly325=)
c.828C>T (p.Gly276=)
c.813C>T (p.Gly271=)
c.528C>T (p.Gly176=)
c.637C>T
n.15C>T
c.358+1145C>T (n.358+1145C>T)
c.717C>T (p.Gly239=)
n.711C>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957328G>CCA480364973PMELc.975C>G (p.Gly325=)
c.828C>G (p.Gly276=)
c.813C>G (p.Gly271=)
c.528C>G (p.Gly176=)
c.637C>G
n.15C>G
c.358+1145C>G (n.358+1145C>G)
c.717C>G (p.Gly239=)
n.711C>G
 dbSNP
12g.55957328G=CA2038181508PMELc.975C= (p.Gly325=)
c.828C= (p.Gly276=)
c.813C= (p.Gly271=)
c.528C= (p.Gly176=)
c.637C=
n.15C=
c.358+1145C= (n.358+1145C=)
c.717C= (p.Gly239=)
n.711C=
12g.55957328G>TCA480364976PMELc.975C>A (p.Gly325=)
c.828C>A (p.Gly276=)
c.813C>A (p.Gly271=)
c.528C>A (p.Gly176=)
c.637C>A
n.15C>A
c.358+1145C>A (n.358+1145C>A)
c.717C>A (p.Gly239=)
n.711C>A
12g.55957329C>ACA6620093PMELc.974G>T (p.Gly325Val)
c.827G>T (p.Gly276Val)
c.812G>T (p.Gly271Val)
c.527G>T (p.Gly176Val)
c.636G>T
n.14G>T
c.358+1144G>T (n.358+1144G>T)
c.716G>T (p.Gly239Val)
n.710G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957329C=CA2038181512PMELc.974G= (p.Gly325=)
c.827G= (p.Gly276=)
c.812G= (p.Gly271=)
c.527G= (p.Gly176=)
c.636G=
n.14G=
c.358+1144G= (n.358+1144G=)
c.716G= (p.Gly239=)
n.710G=
12g.55957329C>GCA385217729PMELc.974G>C (p.Gly325Ala)
c.827G>C (p.Gly276Ala)
c.812G>C (p.Gly271Ala)
c.527G>C (p.Gly176Ala)
c.636G>C
n.14G>C
c.358+1144G>C (n.358+1144G>C)
c.716G>C (p.Gly239Ala)
n.710G>C
12g.55957329C>TCA385217730PMELc.974G>A (p.Gly325Asp)
c.827G>A (p.Gly276Asp)
c.812G>A (p.Gly271Asp)
c.527G>A (p.Gly176Asp)
c.636G>A
n.14G>A
c.358+1144G>A (n.358+1144G>A)
c.716G>A (p.Gly239Asp)
n.710G>A
12g.55957330C>ACA385217736PMELc.973G>T (p.Gly325Cys)
c.826G>T (p.Gly276Cys)
c.811G>T (p.Gly271Cys)
c.526G>T (p.Gly176Cys)
c.635G>T
n.13G>T
c.358+1143G>T (n.358+1143G>T)
c.715G>T (p.Gly239Cys)
n.709G>T
12g.55957330C=CA2038181516PMELc.973G= (p.Gly325=)
c.826G= (p.Gly276=)
c.811G= (p.Gly271=)
c.526G= (p.Gly176=)
c.635G=
n.13G=
c.358+1143G= (n.358+1143G=)
c.715G= (p.Gly239=)
n.709G=
12g.55957330C>GCA385217734PMELc.973G>C (p.Gly325Arg)
c.826G>C (p.Gly276Arg)
c.811G>C (p.Gly271Arg)
c.526G>C (p.Gly176Arg)
c.635G>C
n.13G>C
c.358+1143G>C (n.358+1143G>C)
c.715G>C (p.Gly239Arg)
n.709G>C
12g.55957330C>TCA385217732PMELc.973G>A (p.Gly325Ser)
c.826G>A (p.Gly276Ser)
c.811G>A (p.Gly271Ser)
c.526G>A (p.Gly176Ser)
c.635G>A
n.13G>A
c.358+1143G>A (n.358+1143G>A)
c.715G>A (p.Gly239Ser)
n.709G>A
 dbSNP gnomAD v4
12g.55957331A=CA2038181520PMELc.972T= (p.Ala324=)
c.825T= (p.Ala275=)
c.810T= (p.Ala270=)
c.525T= (p.Ala175=)
c.634T=
n.12T=
c.358+1142T= (n.358+1142T=)
c.714T= (p.Ala238=)
n.708T=
12g.55957331A>CCA480364977PMELc.972T>G (p.Ala324=)
c.825T>G (p.Ala275=)
c.810T>G (p.Ala270=)
c.525T>G (p.Ala175=)
c.634T>G
n.12T>G
c.358+1142T>G (n.358+1142T>G)
c.714T>G (p.Ala238=)
n.708T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957331A>GCA480364978PMELc.972T>C (p.Ala324=)
c.825T>C (p.Ala275=)
c.810T>C (p.Ala270=)
c.525T>C (p.Ala175=)
c.634T>C
n.12T>C
c.358+1142T>C (n.358+1142T>C)
c.714T>C (p.Ala238=)
n.708T>C
 gnomAD v4
12g.55957331A>TCA480364979PMELc.972T>A (p.Ala324=)
c.825T>A (p.Ala275=)
c.810T>A (p.Ala270=)
c.525T>A (p.Ala175=)
c.634T>A
n.12T>A
c.358+1142T>A (n.358+1142T>A)
c.714T>A (p.Ala238=)
n.708T>A
12g.55957332G>ACA385217737PMELc.971C>T (p.Ala324Val)
c.824C>T (p.Ala275Val)
c.809C>T (p.Ala270Val)
c.524C>T (p.Ala175Val)
c.633C>T
n.11C>T
c.358+1141C>T (n.358+1141C>T)
c.713C>T (p.Ala238Val)
n.707C>T
12g.55957332G>CCA385217738PMELc.971C>G (p.Ala324Gly)
c.824C>G (p.Ala275Gly)
c.809C>G (p.Ala270Gly)
c.524C>G (p.Ala175Gly)
c.633C>G
n.11C>G
c.358+1141C>G (n.358+1141C>G)
c.713C>G (p.Ala238Gly)
n.707C>G
12g.55957332G>TCA385217740PMELc.971C>A (p.Ala324Asp)
c.824C>A (p.Ala275Asp)
c.809C>A (p.Ala270Asp)
c.524C>A (p.Ala175Asp)
c.633C>A
n.11C>A
c.358+1141C>A (n.358+1141C>A)
c.713C>A (p.Ala238Asp)
n.707C>A
 gnomAD v4
12g.55957333C>ACA385217742PMELc.970G>T (p.Ala324Ser)
c.823G>T (p.Ala275Ser)
c.808G>T (p.Ala270Ser)
c.523G>T (p.Ala175Ser)
c.632G>T
n.10G>T
c.358+1140G>T (n.358+1140G>T)
c.712G>T (p.Ala238Ser)
n.706G>T
12g.55957333C>GCA385217744PMELc.970G>C (p.Ala324Pro)
c.823G>C (p.Ala275Pro)
c.808G>C (p.Ala270Pro)
c.523G>C (p.Ala175Pro)
c.632G>C
n.10G>C
c.358+1140G>C (n.358+1140G>C)
c.712G>C (p.Ala238Pro)
n.706G>C
12g.55957333C>TCA385217745PMELc.970G>A (p.Ala324Thr)
c.823G>A (p.Ala275Thr)
c.808G>A (p.Ala270Thr)
c.523G>A (p.Ala175Thr)
c.632G>A
n.10G>A
c.358+1140G>A (n.358+1140G>A)
c.712G>A (p.Ala238Thr)
n.706G>A
12g.55957334T>ACA480364981PMELc.969A>T (p.Thr323=)
c.822A>T (p.Thr274=)
c.807A>T (p.Thr269=)
c.522A>T (p.Thr174=)
c.631A>T
n.9A>T
c.358+1139A>T (n.358+1139A>T)
c.711A>T (p.Thr237=)
n.705A>T
12g.55957334T>CCA480364982PMELc.969A>G (p.Thr323=)
c.822A>G (p.Thr274=)
c.807A>G (p.Thr269=)
c.522A>G (p.Thr174=)
c.631A>G
n.9A>G
c.358+1139A>G (n.358+1139A>G)
c.711A>G (p.Thr237=)
n.705A>G
 dbSNP gnomAD v2 gnomAD v4
12g.55957334T>GCA480364984PMELc.969A>C (p.Thr323=)
c.822A>C (p.Thr274=)
c.807A>C (p.Thr269=)
c.522A>C (p.Thr174=)
c.631A>C
n.9A>C
c.358+1139A>C (n.358+1139A>C)
c.711A>C (p.Thr237=)
n.705A>C
12g.55957334T=CA2038181523PMELc.969A= (p.Thr323=)
c.822A= (p.Thr274=)
c.807A= (p.Thr269=)
c.522A= (p.Thr174=)
c.631A=
n.9A=
c.358+1139A= (n.358+1139A=)
c.711A= (p.Thr237=)
n.705A=
12g.55957335G>ACA6620094PMELc.968C>T (p.Thr323Ile)
c.821C>T (p.Thr274Ile)
c.806C>T (p.Thr269Ile)
c.521C>T (p.Thr174Ile)
c.630C>T
n.8C>T
c.358+1138C>T (n.358+1138C>T)
c.710C>T (p.Thr237Ile)
n.704C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957335G>CCA385217748PMELc.968C>G (p.Thr323Arg)
c.821C>G (p.Thr274Arg)
c.806C>G (p.Thr269Arg)
c.521C>G (p.Thr174Arg)
c.630C>G
n.8C>G
c.358+1138C>G (n.358+1138C>G)
c.710C>G (p.Thr237Arg)
n.704C>G
12g.55957335G=CA2038181526PMELc.968C= (p.Thr323=)
c.821C= (p.Thr274=)
c.806C= (p.Thr269=)
c.521C= (p.Thr174=)
c.630C=
n.8C=
c.358+1138C= (n.358+1138C=)
c.710C= (p.Thr237=)
n.704C=
12g.55957335G>TCA385217750PMELc.968C>A (p.Thr323Lys)
c.821C>A (p.Thr274Lys)
c.806C>A (p.Thr269Lys)
c.521C>A (p.Thr174Lys)
c.630C>A
n.8C>A
c.358+1138C>A (n.358+1138C>A)
c.710C>A (p.Thr237Lys)
n.704C>A
12g.55957336T>ACA385217752PMELc.967A>T (p.Thr323Ser)
c.820A>T (p.Thr274Ser)
c.805A>T (p.Thr269Ser)
c.520A>T (p.Thr174Ser)
c.629A>T
n.7A>T
c.358+1137A>T (n.358+1137A>T)
c.709A>T (p.Thr237Ser)
n.703A>T
12g.55957336T>CCA385217754PMELc.967A>G (p.Thr323Ala)
c.820A>G (p.Thr274Ala)
c.805A>G (p.Thr269Ala)
c.520A>G (p.Thr174Ala)
c.629A>G
n.7A>G
c.358+1137A>G (n.358+1137A>G)
c.709A>G (p.Thr237Ala)
n.703A>G
12g.55957336T>GCA385217755PMELc.967A>C (p.Thr323Pro)
c.820A>C (p.Thr274Pro)
c.805A>C (p.Thr269Pro)
c.520A>C (p.Thr174Pro)
c.629A>C
n.7A>C
c.358+1137A>C (n.358+1137A>C)
c.709A>C (p.Thr237Pro)
n.703A>C
12g.55957337G>ACA6620095PMELc.966C>T (p.Thr322=)
c.819C>T (p.Thr273=)
c.804C>T (p.Thr268=)
c.519C>T (p.Thr173=)
c.628C>T
n.6C>T
c.358+1136C>T (n.358+1136C>T)
c.708C>T (p.Thr236=)
n.702C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957337G>CCA480364987PMELc.966C>G (p.Thr322=)
c.819C>G (p.Thr273=)
c.804C>G (p.Thr268=)
c.519C>G (p.Thr173=)
c.628C>G
n.6C>G
c.358+1136C>G (n.358+1136C>G)
c.708C>G (p.Thr236=)
n.702C>G
12g.55957337G=CA2038181527PMELc.966C= (p.Thr322=)
c.819C= (p.Thr273=)
c.804C= (p.Thr268=)
c.519C= (p.Thr173=)
c.628C=
n.6C=
c.358+1136C= (n.358+1136C=)
c.708C= (p.Thr236=)
n.702C=
12g.55957337G>TCA480364988PMELc.966C>A (p.Thr322=)
c.819C>A (p.Thr273=)
c.804C>A (p.Thr268=)
c.519C>A (p.Thr173=)
c.628C>A
n.6C>A
c.358+1136C>A (n.358+1136C>A)
c.708C>A (p.Thr236=)
n.702C>A
12g.55957338G>ACA385217761PMELc.965C>T (p.Thr322Ile)
c.818C>T (p.Thr273Ile)
c.803C>T (p.Thr268Ile)
c.518C>T (p.Thr173Ile)
c.627C>T
n.5C>T
c.358+1135C>T (n.358+1135C>T)
c.707C>T (p.Thr236Ile)
n.701C>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957338G>CCA385217757PMELc.965C>G (p.Thr322Ser)
c.818C>G (p.Thr273Ser)
c.803C>G (p.Thr268Ser)
c.518C>G (p.Thr173Ser)
c.627C>G
n.5C>G
c.358+1135C>G (n.358+1135C>G)
c.707C>G (p.Thr236Ser)
n.701C>G
12g.55957338G=CA2038181530PMELc.965C= (p.Thr322=)
c.818C= (p.Thr273=)
c.803C= (p.Thr268=)
c.518C= (p.Thr173=)
c.627C=
n.5C=
c.358+1135C= (n.358+1135C=)
c.707C= (p.Thr236=)
n.701C=
12g.55957338G>TCA385217759PMELc.965C>A (p.Thr322Asn)
c.818C>A (p.Thr273Asn)
c.803C>A (p.Thr268Asn)
c.518C>A (p.Thr173Asn)
c.627C>A
n.5C>A
c.358+1135C>A (n.358+1135C>A)
c.707C>A (p.Thr236Asn)
n.701C>A
12g.55957339T>ACA385217762PMELc.964A>T (p.Thr322Ser)
c.817A>T (p.Thr273Ser)
c.802A>T (p.Thr268Ser)
c.517A>T (p.Thr173Ser)
c.626A>T
n.4A>T
c.358+1134A>T (n.358+1134A>T)
c.706A>T (p.Thr236Ser)
n.700A>T
12g.55957339T>CCA385217764PMELc.964A>G (p.Thr322Ala)
c.817A>G (p.Thr273Ala)
c.802A>G (p.Thr268Ala)
c.517A>G (p.Thr173Ala)
c.626A>G
n.4A>G
c.358+1134A>G (n.358+1134A>G)
c.706A>G (p.Thr236Ala)
n.700A>G
12g.55957339T>GCA385217765PMELc.964A>C (p.Thr322Pro)
c.817A>C (p.Thr273Pro)
c.802A>C (p.Thr268Pro)
c.517A>C (p.Thr173Pro)
c.626A>C
n.4A>C
c.358+1134A>C (n.358+1134A>C)
c.706A>C (p.Thr236Pro)
n.700A>C
12g.55957340G>ACA480364991PMELc.963C>T (p.Asn321=)
c.816C>T (p.Asn272=)
c.801C>T (p.Asn267=)
c.516C>T (p.Asn172=)
c.625C>T
n.3C>T
c.358+1133C>T (n.358+1133C>T)
c.705C>T (p.Asn235=)
n.699C>T
 gnomAD v4
12g.55957340G>CCA385217767PMELc.963C>G (p.Asn321Lys)
c.816C>G (p.Asn272Lys)
c.801C>G (p.Asn267Lys)
c.516C>G (p.Asn172Lys)
c.625C>G
n.3C>G
c.358+1133C>G (n.358+1133C>G)
c.705C>G (p.Asn235Lys)
n.699C>G
12g.55957340G>TCA385217769PMELc.963C>A (p.Asn321Lys)
c.816C>A (p.Asn272Lys)
c.801C>A (p.Asn267Lys)
c.516C>A (p.Asn172Lys)
c.625C>A
n.3C>A
c.358+1133C>A (n.358+1133C>A)
c.705C>A (p.Asn235Lys)
n.699C>A
12g.55957341T>ACA385217770PMELc.962A>T (p.Asn321Ile)
c.815A>T (p.Asn272Ile)
c.800A>T (p.Asn267Ile)
c.515A>T (p.Asn172Ile)
c.624A>T
n.2A>T
c.358+1132A>T (n.358+1132A>T)
c.704A>T (p.Asn235Ile)
n.698A>T
12g.55957341T>CCA385217772PMELc.962A>G (p.Asn321Ser)
c.815A>G (p.Asn272Ser)
c.800A>G (p.Asn267Ser)
c.515A>G (p.Asn172Ser)
c.624A>G
n.2A>G
c.358+1132A>G (n.358+1132A>G)
c.704A>G (p.Asn235Ser)
n.698A>G
12g.55957341T>GCA385217773PMELc.962A>C (p.Asn321Thr)
c.815A>C (p.Asn272Thr)
c.800A>C (p.Asn267Thr)
c.515A>C (p.Asn172Thr)
c.624A>C
n.2A>C
c.358+1132A>C (n.358+1132A>C)
c.704A>C (p.Asn235Thr)
n.698A>C
12g.55957342T>ACA385217776PMELc.961A>T (p.Asn321Tyr)
c.814A>T (p.Asn272Tyr)
c.799A>T (p.Asn267Tyr)
c.514A>T (p.Asn172Tyr)
c.623A>T
n.1A>T
c.358+1131A>T (n.358+1131A>T)
c.703A>T (p.Asn235Tyr)
n.697A>T
12g.55957342T>CCA6620096PMELc.961A>G (p.Asn321Asp)
c.814A>G (p.Asn272Asp)
c.799A>G (p.Asn267Asp)
c.514A>G (p.Asn172Asp)
c.623A>G
n.1A>G
c.358+1131A>G (n.358+1131A>G)
c.703A>G (p.Asn235Asp)
n.697A>G
 dbSNP ExAC gnomAD v2
12g.55957342T>GCA385217778PMELc.961A>C (p.Asn321His)
c.814A>C (p.Asn272His)
c.799A>C (p.Asn267His)
c.514A>C (p.Asn172His)
c.623A>C
n.1A>C
c.358+1131A>C (n.358+1131A>C)
c.703A>C (p.Asn235His)
n.697A>C
12g.55957342T=CA2038181531PMELc.961A= (p.Asn321=)
c.814A= (p.Asn272=)
c.799A= (p.Asn267=)
c.514A= (p.Asn172=)
c.623A=
n.1A=
c.358+1131A= (n.358+1131A=)
c.703A= (p.Asn235=)
n.697A=
12g.55957343A>CCA480364996PMELc.960T>G (p.Pro320=)
c.813T>G (p.Pro271=)
c.798T>G (p.Pro266=)
c.513T>G (p.Pro171=)
c.622T>G
c.358+1130T>G (n.358+1130T>G)
c.702T>G (p.Pro234=)
n.696T>G
12g.55957343A>GCA480364994PMELc.960T>C (p.Pro320=)
c.813T>C (p.Pro271=)
c.798T>C (p.Pro266=)
c.513T>C (p.Pro171=)
c.622T>C
c.358+1130T>C (n.358+1130T>C)
c.702T>C (p.Pro234=)
n.696T>C
 gnomAD v4
12g.55957343A>TCA480364995PMELc.960T>A (p.Pro320=)
c.813T>A (p.Pro271=)
c.798T>A (p.Pro266=)
c.513T>A (p.Pro171=)
c.622T>A
c.358+1130T>A (n.358+1130T>A)
c.702T>A (p.Pro234=)
n.696T>A
12g.55957344G>ACA385217781PMELc.959C>T (p.Pro320Leu)
c.812C>T (p.Pro271Leu)
c.797C>T (p.Pro266Leu)
c.512C>T (p.Pro171Leu)
c.621C>T
c.358+1129C>T (n.358+1129C>T)
c.701C>T (p.Pro234Leu)
n.695C>T
12g.55957344G>CCA385217779PMELc.959C>G (p.Pro320Arg)
c.812C>G (p.Pro271Arg)
c.797C>G (p.Pro266Arg)
c.512C>G (p.Pro171Arg)
c.621C>G
c.358+1129C>G (n.358+1129C>G)
c.701C>G (p.Pro234Arg)
n.695C>G
12g.55957344G=CA2038181534PMELc.959C= (p.Pro320=)
c.812C= (p.Pro271=)
c.797C= (p.Pro266=)
c.512C= (p.Pro171=)
c.621C=
c.358+1129C= (n.358+1129C=)
c.701C= (p.Pro234=)
n.695C=
12g.55957344G>TCA6620097PMELc.959C>A (p.Pro320His)
c.812C>A (p.Pro271His)
c.797C>A (p.Pro266His)
c.512C>A (p.Pro171His)
c.621C>A
c.358+1129C>A (n.358+1129C>A)
c.701C>A (p.Pro234His)
n.695C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957347delCA2726241340PMELc.959del (p.Pro320LeufsTer?)
c.812del (p.Pro271LeufsTer?)
c.797del (p.Pro266LeufsTer?)
c.512del (p.Pro171LeufsTer?)
c.621del
c.358+1129del (n.358+1129del)
c.701del (p.Pro234LeufsTer?)
n.695del
 dbSNP
12g.55957345G>ACA385217783PMELc.958C>T (p.Pro320Ser)
c.811C>T (p.Pro271Ser)
c.796C>T (p.Pro266Ser)
c.511C>T (p.Pro171Ser)
c.620C>T
c.358+1128C>T (n.358+1128C>T)
c.700C>T (p.Pro234Ser)
n.694C>T
12g.55957345G>CCA385217784PMELc.958C>G (p.Pro320Ala)
c.811C>G (p.Pro271Ala)
c.796C>G (p.Pro266Ala)
c.511C>G (p.Pro171Ala)
c.620C>G
c.358+1128C>G (n.358+1128C>G)
c.700C>G (p.Pro234Ala)
n.694C>G
12g.55957345G>TCA385217785PMELc.958C>A (p.Pro320Thr)
c.811C>A (p.Pro271Thr)
c.796C>A (p.Pro266Thr)
c.511C>A (p.Pro171Thr)
c.620C>A
c.358+1128C>A (n.358+1128C>A)
c.700C>A (p.Pro234Thr)
n.694C>A
 gnomAD v4
12g.55957346G>ACA480364998PMELc.957C>T (p.Ala319=)
c.810C>T (p.Ala270=)
c.795C>T (p.Ala265=)
c.510C>T (p.Ala170=)
c.619C>T
c.358+1127C>T (n.358+1127C>T)
c.699C>T (p.Ala233=)
n.693C>T
12g.55957346G>CCA480365000PMELc.957C>G (p.Ala319=)
c.810C>G (p.Ala270=)
c.795C>G (p.Ala265=)
c.510C>G (p.Ala170=)
c.619C>G
c.358+1127C>G (n.358+1127C>G)
c.699C>G (p.Ala233=)
n.693C>G
12g.55957346G>TCA480365002PMELc.957C>A (p.Ala319=)
c.810C>A (p.Ala270=)
c.795C>A (p.Ala265=)
c.510C>A (p.Ala170=)
c.619C>A
c.358+1127C>A (n.358+1127C>A)
c.699C>A (p.Ala233=)
n.693C>A
12g.55957347G>ACA385217786PMELc.956C>T (p.Ala319Val)
c.809C>T (p.Ala270Val)
c.794C>T (p.Ala265Val)
c.509C>T (p.Ala170Val)
c.618C>T
c.358+1126C>T (n.358+1126C>T)
c.698C>T (p.Ala233Val)
n.692C>T
12g.55957347G>CCA385217787PMELc.956C>G (p.Ala319Gly)
c.809C>G (p.Ala270Gly)
c.794C>G (p.Ala265Gly)
c.509C>G (p.Ala170Gly)
c.618C>G
c.358+1126C>G (n.358+1126C>G)
c.698C>G (p.Ala233Gly)
n.692C>G
 dbSNP
12g.55957347G=CA2038181539PMELc.956C= (p.Ala319=)
c.809C= (p.Ala270=)
c.794C= (p.Ala265=)
c.509C= (p.Ala170=)
c.618C=
c.358+1126C= (n.358+1126C=)
c.698C= (p.Ala233=)
n.692C=
12g.55957347G>TCA385217788PMELc.956C>A (p.Ala319Asp)
c.809C>A (p.Ala270Asp)
c.794C>A (p.Ala265Asp)
c.509C>A (p.Ala170Asp)
c.618C>A
c.358+1126C>A (n.358+1126C>A)
c.698C>A (p.Ala233Asp)
n.692C>A
12g.55957348C>ACA385217790PMELc.955G>T (p.Ala319Ser)
c.808G>T (p.Ala270Ser)
c.793G>T (p.Ala265Ser)
c.508G>T (p.Ala170Ser)
c.617G>T
c.358+1125G>T (n.358+1125G>T)
c.697G>T (p.Ala233Ser)
n.691G>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957348C=CA2038181545PMELc.955G= (p.Ala319=)
c.808G= (p.Ala270=)
c.793G= (p.Ala265=)
c.508G= (p.Ala170=)
c.617G=
c.358+1125G= (n.358+1125G=)
c.697G= (p.Ala233=)
n.691G=
12g.55957348C>GCA385217792PMELc.955G>C (p.Ala319Pro)
c.808G>C (p.Ala270Pro)
c.793G>C (p.Ala265Pro)
c.508G>C (p.Ala170Pro)
c.617G>C
c.358+1125G>C (n.358+1125G>C)
c.697G>C (p.Ala233Pro)
n.691G>C
12g.55957348C>TCA385217793PMELc.955G>A (p.Ala319Thr)
c.808G>A (p.Ala270Thr)
c.793G>A (p.Ala265Thr)
c.508G>A (p.Ala170Thr)
c.617G>A
c.358+1125G>A (n.358+1125G>A)
c.697G>A (p.Ala233Thr)
n.691G>A
12g.55957349C>ACA385217794PMELc.954G>T (p.Glu318Asp)
c.807G>T (p.Glu269Asp)
c.792G>T (p.Glu264Asp)
c.507G>T (p.Glu169Asp)
c.616G>T
c.358+1124G>T (n.358+1124G>T)
c.696G>T (p.Glu232Asp)
n.690G>T
12g.55957349C=CA2038181564PMELc.954G= (p.Glu318=)
c.807G= (p.Glu269=)
c.792G= (p.Glu264=)
c.507G= (p.Glu169=)
c.616G=
c.358+1124G= (n.358+1124G=)
c.696G= (p.Glu232=)
n.690G=
12g.55957349C>GCA385217796PMELc.954G>C (p.Glu318Asp)
c.807G>C (p.Glu269Asp)
c.792G>C (p.Glu264Asp)
c.507G>C (p.Glu169Asp)
c.616G>C
c.358+1124G>C (n.358+1124G>C)
c.696G>C (p.Glu232Asp)
n.690G>C
12g.55957349C>TCA480365009PMELc.954G>A (p.Glu318=)
c.807G>A (p.Glu269=)
c.792G>A (p.Glu264=)
c.507G>A (p.Glu169=)
c.616G>A
c.358+1124G>A (n.358+1124G>A)
c.696G>A (p.Glu232=)
n.690G>A
 dbSNP
12g.55957350T>ACA385217801PMELc.953A>T (p.Glu318Val)
c.806A>T (p.Glu269Val)
c.791A>T (p.Glu264Val)
c.506A>T (p.Glu169Val)
c.615A>T
c.358+1123A>T (n.358+1123A>T)
c.695A>T (p.Glu232Val)
n.689A>T
12g.55957350T>CCA385217800PMELc.953A>G (p.Glu318Gly)
c.806A>G (p.Glu269Gly)
c.791A>G (p.Glu264Gly)
c.506A>G (p.Glu169Gly)
c.615A>G
c.358+1123A>G (n.358+1123A>G)
c.695A>G (p.Glu232Gly)
n.689A>G
12g.55957350T>GCA385217798PMELc.953A>C (p.Glu318Ala)
c.806A>C (p.Glu269Ala)
c.791A>C (p.Glu264Ala)
c.506A>C (p.Glu169Ala)
c.615A>C
c.358+1123A>C (n.358+1123A>C)
c.695A>C (p.Glu232Ala)
n.689A>C
12g.55957351C>ACA385217802PMELc.952G>T (p.Glu318Ter)
c.805G>T (p.Glu269Ter)
c.790G>T (p.Glu264Ter)
c.505G>T (p.Glu169Ter)
c.614G>T
c.358+1122G>T (n.358+1122G>T)
c.694G>T (p.Glu232Ter)
n.688G>T
12g.55957351C>GCA385217804PMELc.952G>C (p.Glu318Gln)
c.805G>C (p.Glu269Gln)
c.790G>C (p.Glu264Gln)
c.505G>C (p.Glu169Gln)
c.614G>C
c.358+1122G>C (n.358+1122G>C)
c.694G>C (p.Glu232Gln)
n.688G>C
12g.55957351C>TCA385217803PMELc.952G>A (p.Glu318Lys)
c.805G>A (p.Glu269Lys)
c.790G>A (p.Glu264Lys)
c.505G>A (p.Glu169Lys)
c.614G>A
c.358+1122G>A (n.358+1122G>A)
c.694G>A (p.Glu232Lys)
n.688G>A
 gnomAD v4
12g.55957352T>ACA480365015PMELc.951A>T (p.Ala317=)
c.804A>T (p.Ala268=)
c.789A>T (p.Ala263=)
c.504A>T (p.Ala168=)
c.613A>T
c.358+1121A>T (n.358+1121A>T)
c.693A>T (p.Ala231=)
n.687A>T
12g.55957352T>CCA480365016PMELc.951A>G (p.Ala317=)
c.804A>G (p.Ala268=)
c.789A>G (p.Ala263=)
c.504A>G (p.Ala168=)
c.613A>G
c.358+1121A>G (n.358+1121A>G)
c.693A>G (p.Ala231=)
n.687A>G
12g.55957352T>GCA480365017PMELc.951A>C (p.Ala317=)
c.804A>C (p.Ala268=)
c.789A>C (p.Ala263=)
c.504A>C (p.Ala168=)
c.613A>C
c.358+1121A>C (n.358+1121A>C)
c.693A>C (p.Ala231=)
n.687A>C
12g.55957353G>ACA385217805PMELc.950C>T (p.Ala317Val)
c.803C>T (p.Ala268Val)
c.788C>T (p.Ala263Val)
c.503C>T (p.Ala168Val)
c.612C>T
c.358+1120C>T (n.358+1120C>T)
c.692C>T (p.Ala231Val)
n.686C>T
12g.55957353G>CCA385217808PMELc.950C>G (p.Ala317Gly)
c.803C>G (p.Ala268Gly)
c.788C>G (p.Ala263Gly)
c.503C>G (p.Ala168Gly)
c.612C>G
c.358+1120C>G (n.358+1120C>G)
c.692C>G (p.Ala231Gly)
n.686C>G
 gnomAD v4
12g.55957353G>TCA385217807PMELc.950C>A (p.Ala317Glu)
c.803C>A (p.Ala268Glu)
c.788C>A (p.Ala263Glu)
c.503C>A (p.Ala168Glu)
c.612C>A
c.358+1120C>A (n.358+1120C>A)
c.692C>A (p.Ala231Glu)
n.686C>A
 gnomAD v4
12g.55957354_55957377delCA2619241135PMELc.927_950del (p.Thr310_Ala317del)
c.780_803del (p.Thr261_Ala268del)
c.765_788del (p.Thr256_Ala263del)
c.480_503del (p.Thr161_Ala168del)
c.589_612del
c.358+1097_358+1120del (n.358+1097_358+1120del)
c.669_692del (p.Thr224_Ala231del)
n.663_686del
 gnomAD v4
12g.55957354C>ACA385217809PMELc.949G>T (p.Ala317Ser)
c.802G>T (p.Ala268Ser)
c.787G>T (p.Ala263Ser)
c.502G>T (p.Ala168Ser)
c.611G>T
c.358+1119G>T (n.358+1119G>T)
c.691G>T (p.Ala231Ser)
n.685G>T
12g.55957354C>GCA385217810PMELc.949G>C (p.Ala317Pro)
c.802G>C (p.Ala268Pro)
c.787G>C (p.Ala263Pro)
c.502G>C (p.Ala168Pro)
c.611G>C
c.358+1119G>C (n.358+1119G>C)
c.691G>C (p.Ala231Pro)
n.685G>C
12g.55957354C>TCA385217811PMELc.949G>A (p.Ala317Thr)
c.802G>A (p.Ala268Thr)
c.787G>A (p.Ala263Thr)
c.502G>A (p.Ala168Thr)
c.611G>A
c.358+1119G>A (n.358+1119G>A)
c.691G>A (p.Ala231Thr)
n.685G>A
 gnomAD v4
12g.55957355A>CCA480365018PMELc.948T>G (p.Thr316=)
c.801T>G (p.Thr267=)
c.786T>G (p.Thr262=)
c.501T>G (p.Thr167=)
c.610T>G
c.358+1118T>G (n.358+1118T>G)
c.690T>G (p.Thr230=)
n.684T>G
12g.55957355A>GCA480365019PMELc.948T>C (p.Thr316=)
c.801T>C (p.Thr267=)
c.786T>C (p.Thr262=)
c.501T>C (p.Thr167=)
c.610T>C
c.358+1118T>C (n.358+1118T>C)
c.690T>C (p.Thr230=)
n.684T>C
12g.55957355A>TCA480365020PMELc.948T>A (p.Thr316=)
c.801T>A (p.Thr267=)
c.786T>A (p.Thr262=)
c.501T>A (p.Thr167=)
c.610T>A
c.358+1118T>A (n.358+1118T>A)
c.690T>A (p.Thr230=)
n.684T>A
12g.55957356G>ACA385217812PMELc.947C>T (p.Thr316Ile)
c.800C>T (p.Thr267Ile)
c.785C>T (p.Thr262Ile)
c.500C>T (p.Thr167Ile)
c.609C>T
c.358+1117C>T (n.358+1117C>T)
c.689C>T (p.Thr230Ile)
n.683C>T
12g.55957356G>CCA385217814PMELc.947C>G (p.Thr316Ser)
c.800C>G (p.Thr267Ser)
c.785C>G (p.Thr262Ser)
c.500C>G (p.Thr167Ser)
c.609C>G
c.358+1117C>G (n.358+1117C>G)
c.689C>G (p.Thr230Ser)
n.683C>G
12g.55957356G>TCA385217816PMELc.947C>A (p.Thr316Asn)
c.800C>A (p.Thr267Asn)
c.785C>A (p.Thr262Asn)
c.500C>A (p.Thr167Asn)
c.609C>A
c.358+1117C>A (n.358+1117C>A)
c.689C>A (p.Thr230Asn)
n.683C>A
12g.55957357T>ACA385217817PMELc.946A>T (p.Thr316Ser)
c.799A>T (p.Thr267Ser)
c.784A>T (p.Thr262Ser)
c.499A>T (p.Thr167Ser)
c.608A>T
c.358+1116A>T (n.358+1116A>T)
c.688A>T (p.Thr230Ser)
n.682A>T
12g.55957357T>CCA385217818PMELc.946A>G (p.Thr316Ala)
c.799A>G (p.Thr267Ala)
c.784A>G (p.Thr262Ala)
c.499A>G (p.Thr167Ala)
c.608A>G
c.358+1116A>G (n.358+1116A>G)
c.688A>G (p.Thr230Ala)
n.682A>G
12g.55957357T>GCA385217820PMELc.946A>C (p.Thr316Pro)
c.799A>C (p.Thr267Pro)
c.784A>C (p.Thr262Pro)
c.499A>C (p.Thr167Pro)
c.608A>C
c.358+1116A>C (n.358+1116A>C)
c.688A>C (p.Thr230Pro)
n.682A>C
12g.55957358T>ACA480365023PMELc.945A>T (p.Pro315=)
c.798A>T (p.Pro266=)
c.783A>T (p.Pro261=)
c.498A>T (p.Pro166=)
c.607A>T
c.358+1115A>T (n.358+1115A>T)
c.687A>T (p.Pro229=)
n.681A>T
12g.55957358T>CCA480365025PMELc.945A>G (p.Pro315=)
c.798A>G (p.Pro266=)
c.783A>G (p.Pro261=)
c.498A>G (p.Pro166=)
c.607A>G
c.358+1115A>G (n.358+1115A>G)
c.687A>G (p.Pro229=)
n.681A>G
12g.55957358T>GCA480365026PMELc.945A>C (p.Pro315=)
c.798A>C (p.Pro266=)
c.783A>C (p.Pro261=)
c.498A>C (p.Pro166=)
c.607A>C
c.358+1115A>C (n.358+1115A>C)
c.687A>C (p.Pro229=)
n.681A>C
12g.55957359G>ACA385217822PMELc.944C>T (p.Pro315Leu)
c.797C>T (p.Pro266Leu)
c.782C>T (p.Pro261Leu)
c.497C>T (p.Pro166Leu)
c.606C>T
c.358+1114C>T (n.358+1114C>T)
c.686C>T (p.Pro229Leu)
n.680C>T
12g.55957359G>CCA385217824PMELc.944C>G (p.Pro315Arg)
c.797C>G (p.Pro266Arg)
c.782C>G (p.Pro261Arg)
c.497C>G (p.Pro166Arg)
c.606C>G
c.358+1114C>G (n.358+1114C>G)
c.686C>G (p.Pro229Arg)
n.680C>G
12g.55957359G>TCA385217825PMELc.944C>A (p.Pro315Gln)
c.797C>A (p.Pro266Gln)
c.782C>A (p.Pro261Gln)
c.497C>A (p.Pro166Gln)
c.606C>A
c.358+1114C>A (n.358+1114C>A)
c.686C>A (p.Pro229Gln)
n.680C>A
12g.55957360G>ACA385217830PMELc.943C>T (p.Pro315Ser)
c.796C>T (p.Pro266Ser)
c.781C>T (p.Pro261Ser)
c.496C>T (p.Pro166Ser)
c.605C>T
c.358+1113C>T (n.358+1113C>T)
c.685C>T (p.Pro229Ser)
n.679C>T
 gnomAD v4
12g.55957360G>CCA385217827PMELc.943C>G (p.Pro315Ala)
c.796C>G (p.Pro266Ala)
c.781C>G (p.Pro261Ala)
c.496C>G (p.Pro166Ala)
c.605C>G
c.358+1113C>G (n.358+1113C>G)
c.685C>G (p.Pro229Ala)
n.679C>G
 gnomAD v4
12g.55957360G=CA2038181567PMELc.943C= (p.Pro315=)
c.796C= (p.Pro266=)
c.781C= (p.Pro261=)
c.496C= (p.Pro166=)
c.605C=
c.358+1113C= (n.358+1113C=)
c.685C= (p.Pro229=)
n.679C=
12g.55957360G>TCA385217828PMELc.943C>A (p.Pro315Thr)
c.796C>A (p.Pro266Thr)
c.781C>A (p.Pro261Thr)
c.496C>A (p.Pro166Thr)
c.605C>A
c.358+1113C>A (n.358+1113C>A)
c.685C>A (p.Pro229Thr)
n.679C>A
 dbSNP gnomAD v3 gnomAD v4
12g.55957361C>ACA385217831PMELc.942G>T (p.Arg314Ser)
c.795G>T (p.Arg265Ser)
c.780G>T (p.Arg260Ser)
c.495G>T (p.Arg165Ser)
c.604G>T
c.358+1112G>T (n.358+1112G>T)
c.684G>T (p.Arg228Ser)
n.678G>T
 gnomAD v4
12g.55957361C>GCA385217832PMELc.942G>C (p.Arg314Ser)
c.795G>C (p.Arg265Ser)
c.780G>C (p.Arg260Ser)
c.495G>C (p.Arg165Ser)
c.604G>C
c.358+1112G>C (n.358+1112G>C)
c.684G>C (p.Arg228Ser)
n.678G>C
12g.55957361C>TCA480365033PMELc.942G>A (p.Arg314=)
c.795G>A (p.Arg265=)
c.780G>A (p.Arg260=)
c.495G>A (p.Arg165=)
c.604G>A
c.358+1112G>A (n.358+1112G>A)
c.684G>A (p.Arg228=)
n.678G>A
 gnomAD v4
12g.55957362C>ACA385217834PMELc.941G>T (p.Arg314Met)
c.794G>T (p.Arg265Met)
c.779G>T (p.Arg260Met)
c.494G>T (p.Arg165Met)
c.603G>T
c.358+1111G>T (n.358+1111G>T)
c.683G>T (p.Arg228Met)
n.677G>T
12g.55957362C>GCA385217835PMELc.941G>C (p.Arg314Thr)
c.794G>C (p.Arg265Thr)
c.779G>C (p.Arg260Thr)
c.494G>C (p.Arg165Thr)
c.603G>C
c.358+1111G>C (n.358+1111G>C)
c.683G>C (p.Arg228Thr)
n.677G>C
12g.55957362C>TCA385217837PMELc.941G>A (p.Arg314Lys)
c.794G>A (p.Arg265Lys)
c.779G>A (p.Arg260Lys)
c.494G>A (p.Arg165Lys)
c.603G>A
c.358+1111G>A (n.358+1111G>A)
c.683G>A (p.Arg228Lys)
n.677G>A
12g.55957363T>ACA385217839PMELc.940A>T (p.Arg314Trp)
c.793A>T (p.Arg265Trp)
c.778A>T (p.Arg260Trp)
c.493A>T (p.Arg165Trp)
c.602A>T
c.358+1110A>T (n.358+1110A>T)
c.682A>T (p.Arg228Trp)
n.676A>T
12g.55957363T>CCA385217840PMELc.940A>G (p.Arg314Gly)
c.793A>G (p.Arg265Gly)
c.778A>G (p.Arg260Gly)
c.493A>G (p.Arg165Gly)
c.602A>G
c.358+1110A>G (n.358+1110A>G)
c.682A>G (p.Arg228Gly)
n.676A>G
12g.55957363T>GCA480365035PMELc.940A>C (p.Arg314=)
c.793A>C (p.Arg265=)
c.778A>C (p.Arg260=)
c.493A>C (p.Arg165=)
c.602A>C
c.358+1110A>C (n.358+1110A>C)
c.682A>C (p.Arg228=)
n.676A>C
12g.55957364G>ACA6620098PMELc.939C>T (p.His313=)
c.792C>T (p.His264=)
c.777C>T (p.His259=)
c.492C>T (p.His164=)
c.601C>T
c.358+1109C>T (n.358+1109C>T)
c.681C>T (p.His227=)
n.675C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957364G>CCA385217843PMELc.939C>G (p.His313Gln)
c.792C>G (p.His264Gln)
c.777C>G (p.His259Gln)
c.492C>G (p.His164Gln)
c.601C>G
c.358+1109C>G (n.358+1109C>G)
c.681C>G (p.His227Gln)
n.675C>G
 gnomAD v4
12g.55957364G=CA2038181568PMELc.939C= (p.His313=)
c.792C= (p.His264=)
c.777C= (p.His259=)
c.492C= (p.His164=)
c.601C=
c.358+1109C= (n.358+1109C=)
c.681C= (p.His227=)
n.675C=
12g.55957364G>TCA237591039PMELc.939C>A (p.His313Gln)
c.792C>A (p.His264Gln)
c.777C>A (p.His259Gln)
c.492C>A (p.His164Gln)
c.601C>A
c.358+1109C>A (n.358+1109C>A)
c.681C>A (p.His227Gln)
n.675C>A
 dbSNP gnomAD v4
12g.55957365T>ACA385217849PMELc.938A>T (p.His313Leu)
c.791A>T (p.His264Leu)
c.776A>T (p.His259Leu)
c.491A>T (p.His164Leu)
c.600A>T
c.358+1108A>T (n.358+1108A>T)
c.680A>T (p.His227Leu)
n.674A>T
12g.55957365T>CCA385217847PMELc.938A>G (p.His313Arg)
c.791A>G (p.His264Arg)
c.776A>G (p.His259Arg)
c.491A>G (p.His164Arg)
c.600A>G
c.358+1108A>G (n.358+1108A>G)
c.680A>G (p.His227Arg)
n.674A>G
12g.55957365T>GCA385217846PMELc.938A>C (p.His313Pro)
c.791A>C (p.His264Pro)
c.776A>C (p.His259Pro)
c.491A>C (p.His164Pro)
c.600A>C
c.358+1108A>C (n.358+1108A>C)
c.680A>C (p.His227Pro)
n.674A>C
12g.55957366G>ACA385217850PMELc.937C>T (p.His313Tyr)
c.790C>T (p.His264Tyr)
c.775C>T (p.His259Tyr)
c.490C>T (p.His164Tyr)
c.599C>T
c.358+1107C>T (n.358+1107C>T)
c.679C>T (p.His227Tyr)
n.673C>T
12g.55957366G>CCA385217851PMELc.937C>G (p.His313Asp)
c.790C>G (p.His264Asp)
c.775C>G (p.His259Asp)
c.490C>G (p.His164Asp)
c.599C>G
c.358+1107C>G (n.358+1107C>G)
c.679C>G (p.His227Asp)
n.673C>G
12g.55957366G>TCA385217853PMELc.937C>A (p.His313Asn)
c.790C>A (p.His264Asn)
c.775C>A (p.His259Asn)
c.490C>A (p.His164Asn)
c.599C>A
c.358+1107C>A (n.358+1107C>A)
c.679C>A (p.His227Asn)
n.673C>A
12g.55957367C>ACA480365040PMELc.936G>T (p.Gly312=)
c.789G>T (p.Gly263=)
c.774G>T (p.Gly258=)
c.489G>T (p.Gly163=)
c.598G>T
c.358+1106G>T (n.358+1106G>T)
c.678G>T (p.Gly226=)
n.672G>T
12g.55957367C>GCA480365042PMELc.936G>C (p.Gly312=)
c.789G>C (p.Gly263=)
c.774G>C (p.Gly258=)
c.489G>C (p.Gly163=)
c.598G>C
c.358+1106G>C (n.358+1106G>C)
c.678G>C (p.Gly226=)
n.672G>C
12g.55957367C>TCA480365044PMELc.936G>A (p.Gly312=)
c.789G>A (p.Gly263=)
c.774G>A (p.Gly258=)
c.489G>A (p.Gly163=)
c.598G>A
c.358+1106G>A (n.358+1106G>A)
c.678G>A (p.Gly226=)
n.672G>A
12g.55957368C>ACA385217855PMELc.935G>T (p.Gly312Val)
c.788G>T (p.Gly263Val)
c.773G>T (p.Gly258Val)
c.488G>T (p.Gly163Val)
c.597G>T
c.358+1105G>T (n.358+1105G>T)
c.677G>T (p.Gly226Val)
n.671G>T
12g.55957368C>GCA385217856PMELc.935G>C (p.Gly312Ala)
c.788G>C (p.Gly263Ala)
c.773G>C (p.Gly258Ala)
c.488G>C (p.Gly163Ala)
c.597G>C
c.358+1105G>C (n.358+1105G>C)
c.677G>C (p.Gly226Ala)
n.671G>C
12g.55957368C>TCA385217857PMELc.935G>A (p.Gly312Glu)
c.788G>A (p.Gly263Glu)
c.773G>A (p.Gly258Glu)
c.488G>A (p.Gly163Glu)
c.597G>A
c.358+1105G>A (n.358+1105G>A)
c.677G>A (p.Gly226Glu)
n.671G>A
12g.55957369C>ACA385217862PMELc.934G>T (p.Gly312Trp)
c.787G>T (p.Gly263Trp)
c.772G>T (p.Gly258Trp)
c.487G>T (p.Gly163Trp)
c.596G>T
c.358+1104G>T (n.358+1104G>T)
c.676G>T (p.Gly226Trp)
n.670G>T
12g.55957369C>GCA385217859PMELc.934G>C (p.Gly312Arg)
c.787G>C (p.Gly263Arg)
c.772G>C (p.Gly258Arg)
c.487G>C (p.Gly163Arg)
c.596G>C
c.358+1104G>C (n.358+1104G>C)
c.676G>C (p.Gly226Arg)
n.670G>C
12g.55957369C>TCA385217861PMELc.934G>A (p.Gly312Arg)
c.787G>A (p.Gly263Arg)
c.772G>A (p.Gly258Arg)
c.487G>A (p.Gly163Arg)
c.596G>A
c.358+1104G>A (n.358+1104G>A)
c.676G>A (p.Gly226Arg)
n.670G>A
12g.55957370A>CCA385217864PMELc.933T>G (p.Asp311Glu)
c.786T>G (p.Asp262Glu)
c.771T>G (p.Asp257Glu)
c.486T>G (p.Asp162Glu)
c.595T>G
c.358+1103T>G (n.358+1103T>G)
c.675T>G (p.Asp225Glu)
n.669T>G
12g.55957370A>GCA480365047PMELc.933T>C (p.Asp311=)
c.786T>C (p.Asp262=)
c.771T>C (p.Asp257=)
c.486T>C (p.Asp162=)
c.595T>C
c.358+1103T>C (n.358+1103T>C)
c.675T>C (p.Asp225=)
n.669T>C
12g.55957370A>TCA385217865PMELc.933T>A (p.Asp311Glu)
c.786T>A (p.Asp262Glu)
c.771T>A (p.Asp257Glu)
c.486T>A (p.Asp162Glu)
c.595T>A
c.358+1103T>A (n.358+1103T>A)
c.675T>A (p.Asp225Glu)
n.669T>A
12g.55957371T>ACA385217867PMELc.932A>T (p.Asp311Val)
c.785A>T (p.Asp262Val)
c.770A>T (p.Asp257Val)
c.485A>T (p.Asp162Val)
c.594A>T
c.358+1102A>T (n.358+1102A>T)
c.674A>T (p.Asp225Val)
n.668A>T
12g.55957371T>CCA385217869PMELc.932A>G (p.Asp311Gly)
c.785A>G (p.Asp262Gly)
c.770A>G (p.Asp257Gly)
c.485A>G (p.Asp162Gly)
c.594A>G
c.358+1102A>G (n.358+1102A>G)
c.674A>G (p.Asp225Gly)
n.668A>G
12g.55957371T>GCA385217870PMELc.932A>C (p.Asp311Ala)
c.785A>C (p.Asp262Ala)
c.770A>C (p.Asp257Ala)
c.485A>C (p.Asp162Ala)
c.594A>C
c.358+1102A>C (n.358+1102A>C)
c.674A>C (p.Asp225Ala)
n.668A>C
12g.55957372C>ACA385217871PMELc.931G>T (p.Asp311Tyr)
c.784G>T (p.Asp262Tyr)
c.769G>T (p.Asp257Tyr)
c.484G>T (p.Asp162Tyr)
c.593G>T
c.358+1101G>T (n.358+1101G>T)
c.673G>T (p.Asp225Tyr)
n.667G>T
 gnomAD v4
12g.55957372C>GCA385217873PMELc.931G>C (p.Asp311His)
c.784G>C (p.Asp262His)
c.769G>C (p.Asp257His)
c.484G>C (p.Asp162His)
c.593G>C
c.358+1101G>C (n.358+1101G>C)
c.673G>C (p.Asp225His)
n.667G>C
12g.55957372C>TCA385217872PMELc.931G>A (p.Asp311Asn)
c.784G>A (p.Asp262Asn)
c.769G>A (p.Asp257Asn)
c.484G>A (p.Asp162Asn)
c.593G>A
c.358+1101G>A (n.358+1101G>A)
c.673G>A (p.Asp225Asn)
n.667G>A
12g.55957373T>ACA480365055PMELc.930A>T (p.Thr310=)
c.783A>T (p.Thr261=)
c.768A>T (p.Thr256=)
c.483A>T (p.Thr161=)
c.592A>T
c.358+1100A>T (n.358+1100A>T)
c.672A>T (p.Thr224=)
n.666A>T
12g.55957373T>CCA480365052PMELc.930A>G (p.Thr310=)
c.783A>G (p.Thr261=)
c.768A>G (p.Thr256=)
c.483A>G (p.Thr161=)
c.592A>G
c.358+1100A>G (n.358+1100A>G)
c.672A>G (p.Thr224=)
n.666A>G
12g.55957373T>GCA237591040PMELc.930A>C (p.Thr310=)
c.783A>C (p.Thr261=)
c.768A>C (p.Thr256=)
c.483A>C (p.Thr161=)
c.592A>C
c.358+1100A>C (n.358+1100A>C)
c.672A>C (p.Thr224=)
n.666A>C
 dbSNP
12g.55957373T=CA2038181571PMELc.930A= (p.Thr310=)
c.783A= (p.Thr261=)
c.768A= (p.Thr256=)
c.483A= (p.Thr161=)
c.592A=
c.358+1100A= (n.358+1100A=)
c.672A= (p.Thr224=)
n.666A=
12g.55957374G>ACA385217874PMELc.929C>T (p.Thr310Ile)
c.782C>T (p.Thr261Ile)
c.767C>T (p.Thr256Ile)
c.482C>T (p.Thr161Ile)
c.591C>T
c.358+1099C>T (n.358+1099C>T)
c.671C>T (p.Thr224Ile)
n.665C>T
 dbSNP
12g.55957374G>CCA385217875PMELc.929C>G (p.Thr310Arg)
c.782C>G (p.Thr261Arg)
c.767C>G (p.Thr256Arg)
c.482C>G (p.Thr161Arg)
c.591C>G
c.358+1099C>G (n.358+1099C>G)
c.671C>G (p.Thr224Arg)
n.665C>G
12g.55957374G=CA2038181576PMELc.929C= (p.Thr310=)
c.782C= (p.Thr261=)
c.767C= (p.Thr256=)
c.482C= (p.Thr161=)
c.591C=
c.358+1099C= (n.358+1099C=)
c.671C= (p.Thr224=)
n.665C=
12g.55957374G>TCA385217877PMELc.929C>A (p.Thr310Lys)
c.782C>A (p.Thr261Lys)
c.767C>A (p.Thr256Lys)
c.482C>A (p.Thr161Lys)
c.591C>A
c.358+1099C>A (n.358+1099C>A)
c.671C>A (p.Thr224Lys)
n.665C>A
12g.55957375T>ACA385217879PMELc.928A>T (p.Thr310Ser)
c.781A>T (p.Thr261Ser)
c.766A>T (p.Thr256Ser)
c.481A>T (p.Thr161Ser)
c.590A>T
c.358+1098A>T (n.358+1098A>T)
c.670A>T (p.Thr224Ser)
n.664A>T
12g.55957375T>CCA385217880PMELc.928A>G (p.Thr310Ala)
c.781A>G (p.Thr261Ala)
c.766A>G (p.Thr256Ala)
c.481A>G (p.Thr161Ala)
c.590A>G
c.358+1098A>G (n.358+1098A>G)
c.670A>G (p.Thr224Ala)
n.664A>G
12g.55957375T>GCA385217882PMELc.928A>C (p.Thr310Pro)
c.781A>C (p.Thr261Pro)
c.766A>C (p.Thr256Pro)
c.481A>C (p.Thr161Pro)
c.590A>C
c.358+1098A>C (n.358+1098A>C)
c.670A>C (p.Thr224Pro)
n.664A>C
12g.55957376G>ACA480365059PMELc.927C>T (p.Thr309=)
c.780C>T (p.Thr260=)
c.765C>T (p.Thr255=)
c.480C>T (p.Thr160=)
c.589C>T
c.358+1097C>T (n.358+1097C>T)
c.669C>T (p.Thr223=)
n.663C>T
12g.55957376G>CCA480365061PMELc.927C>G (p.Thr309=)
c.780C>G (p.Thr260=)
c.765C>G (p.Thr255=)
c.480C>G (p.Thr160=)
c.589C>G
c.358+1097C>G (n.358+1097C>G)
c.669C>G (p.Thr223=)
n.663C>G
12g.55957376G>TCA480365060PMELc.927C>A (p.Thr309=)
c.780C>A (p.Thr260=)
c.765C>A (p.Thr255=)
c.480C>A (p.Thr160=)
c.589C>A
c.358+1097C>A (n.358+1097C>A)
c.669C>A (p.Thr223=)
n.663C>A
12g.55957377G>ACA385217884PMELc.926C>T (p.Thr309Ile)
c.779C>T (p.Thr260Ile)
c.764C>T (p.Thr255Ile)
c.479C>T (p.Thr160Ile)
c.588C>T
c.358+1096C>T (n.358+1096C>T)
c.668C>T (p.Thr223Ile)
n.662C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957377G>CCA385217886PMELc.926C>G (p.Thr309Ser)
c.779C>G (p.Thr260Ser)
c.764C>G (p.Thr255Ser)
c.479C>G (p.Thr160Ser)
c.588C>G
c.358+1096C>G (n.358+1096C>G)
c.668C>G (p.Thr223Ser)
n.662C>G
12g.55957377G=CA2038181582PMELc.926C= (p.Thr309=)
c.779C= (p.Thr260=)
c.764C= (p.Thr255=)
c.479C= (p.Thr160=)
c.588C=
c.358+1096C= (n.358+1096C=)
c.668C= (p.Thr223=)
n.662C=
12g.55957377G>TCA385217887PMELc.926C>A (p.Thr309Asn)
c.779C>A (p.Thr260Asn)
c.764C>A (p.Thr255Asn)
c.479C>A (p.Thr160Asn)
c.588C>A
c.358+1096C>A (n.358+1096C>A)
c.668C>A (p.Thr223Asn)
n.662C>A
 dbSNP
12g.55957378T>ACA385217892PMELc.925A>T (p.Thr309Ser)
c.778A>T (p.Thr260Ser)
c.763A>T (p.Thr255Ser)
c.478A>T (p.Thr160Ser)
c.587A>T
c.358+1095A>T (n.358+1095A>T)
c.667A>T (p.Thr223Ser)
n.661A>T
12g.55957378T>CCA385217890PMELc.925A>G (p.Thr309Ala)
c.778A>G (p.Thr260Ala)
c.763A>G (p.Thr255Ala)
c.478A>G (p.Thr160Ala)
c.587A>G
c.358+1095A>G (n.358+1095A>G)
c.667A>G (p.Thr223Ala)
n.661A>G
12g.55957378T>GCA385217889PMELc.925A>C (p.Thr309Pro)
c.778A>C (p.Thr260Pro)
c.763A>C (p.Thr255Pro)
c.478A>C (p.Thr160Pro)
c.587A>C
c.358+1095A>C (n.358+1095A>C)
c.667A>C (p.Thr223Pro)
n.661A>C
12g.55957379G>ACA480365064PMELc.924C>T (p.Gly308=)
c.777C>T (p.Gly259=)
c.762C>T (p.Gly254=)
c.477C>T (p.Gly159=)
c.586C>T
c.358+1094C>T (n.358+1094C>T)
c.666C>T (p.Gly222=)
n.660C>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957379G>CCA480365065PMELc.924C>G (p.Gly308=)
c.777C>G (p.Gly259=)
c.762C>G (p.Gly254=)
c.477C>G (p.Gly159=)
c.586C>G
c.358+1094C>G (n.358+1094C>G)
c.666C>G (p.Gly222=)
n.660C>G
12g.55957379G=CA2038181586PMELc.924C= (p.Gly308=)
c.777C= (p.Gly259=)
c.762C= (p.Gly254=)
c.477C= (p.Gly159=)
c.586C=
c.358+1094C= (n.358+1094C=)
c.666C= (p.Gly222=)
n.660C=
12g.55957379G>TCA480365066PMELc.924C>A (p.Gly308=)
c.777C>A (p.Gly259=)
c.762C>A (p.Gly254=)
c.477C>A (p.Gly159=)
c.586C>A
c.358+1094C>A (n.358+1094C>A)
c.666C>A (p.Gly222=)
n.660C>A
 dbSNP
12g.55957380C>ACA385217894PMELc.923G>T (p.Gly308Val)
c.776G>T (p.Gly259Val)
c.761G>T (p.Gly254Val)
c.476G>T (p.Gly159Val)
c.585G>T
c.358+1093G>T (n.358+1093G>T)
c.665G>T (p.Gly222Val)
n.659G>T
12g.55957380C>GCA385217895PMELc.923G>C (p.Gly308Ala)
c.776G>C (p.Gly259Ala)
c.761G>C (p.Gly254Ala)
c.476G>C (p.Gly159Ala)
c.585G>C
c.358+1093G>C (n.358+1093G>C)
c.665G>C (p.Gly222Ala)
n.659G>C
12g.55957380C>TCA385217896PMELc.923G>A (p.Gly308Asp)
c.776G>A (p.Gly259Asp)
c.761G>A (p.Gly254Asp)
c.476G>A (p.Gly159Asp)
c.585G>A
c.358+1093G>A (n.358+1093G>A)
c.665G>A (p.Gly222Asp)
n.659G>A
 gnomAD v4
12g.55957381C>ACA385217899PMELc.922G>T (p.Gly308Cys)
c.775G>T (p.Gly259Cys)
c.760G>T (p.Gly254Cys)
c.475G>T (p.Gly159Cys)
c.584G>T
c.358+1092G>T (n.358+1092G>T)
c.664G>T (p.Gly222Cys)
n.658G>T
12g.55957381C=CA2038181596PMELc.922G= (p.Gly308=)
c.775G= (p.Gly259=)
c.760G= (p.Gly254=)
c.475G= (p.Gly159=)
c.584G=
c.358+1092G= (n.358+1092G=)
c.664G= (p.Gly222=)
n.658G=
12g.55957381C>GCA385217901PMELc.922G>C (p.Gly308Arg)
c.775G>C (p.Gly259Arg)
c.760G>C (p.Gly254Arg)
c.475G>C (p.Gly159Arg)
c.584G>C
c.358+1092G>C (n.358+1092G>C)
c.664G>C (p.Gly222Arg)
n.658G>C
12g.55957381C>TCA385217902PMELc.922G>A (p.Gly308Ser)
c.775G>A (p.Gly259Ser)
c.760G>A (p.Gly254Ser)
c.475G>A (p.Gly159Ser)
c.584G>A
c.358+1092G>A (n.358+1092G>A)
c.664G>A (p.Gly222Ser)
n.658G>A
 dbSNP gnomAD v4
12g.55957382T>ACA480365069PMELc.921A>T (p.Pro307=)
c.774A>T (p.Pro258=)
c.759A>T (p.Pro253=)
c.474A>T (p.Pro158=)
c.583A>T
c.358+1091A>T (n.358+1091A>T)
c.663A>T (p.Pro221=)
n.657A>T
12g.55957382T>CCA480365070PMELc.921A>G (p.Pro307=)
c.774A>G (p.Pro258=)
c.759A>G (p.Pro253=)
c.474A>G (p.Pro158=)
c.583A>G
c.358+1091A>G (n.358+1091A>G)
c.663A>G (p.Pro221=)
n.657A>G
 gnomAD v4
12g.55957382T>GCA480365071PMELc.921A>C (p.Pro307=)
c.774A>C (p.Pro258=)
c.759A>C (p.Pro253=)
c.474A>C (p.Pro158=)
c.583A>C
c.358+1091A>C (n.358+1091A>C)
c.663A>C (p.Pro221=)
n.657A>C
12g.55957383G>ACA6620099PMELc.920C>T (p.Pro307Leu)
c.773C>T (p.Pro258Leu)
c.758C>T (p.Pro253Leu)
c.473C>T (p.Pro158Leu)
c.582C>T
c.358+1090C>T (n.358+1090C>T)
c.662C>T (p.Pro221Leu)
n.656C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.55957383G>CCA385217906PMELc.920C>G (p.Pro307Arg)
c.773C>G (p.Pro258Arg)
c.758C>G (p.Pro253Arg)
c.473C>G (p.Pro158Arg)
c.582C>G
c.358+1090C>G (n.358+1090C>G)
c.662C>G (p.Pro221Arg)
n.656C>G
12g.55957383G=CA2038181599PMELc.920C= (p.Pro307=)
c.773C= (p.Pro258=)
c.758C= (p.Pro253=)
c.473C= (p.Pro158=)
c.582C=
c.358+1090C= (n.358+1090C=)
c.662C= (p.Pro221=)
n.656C=
12g.55957383G>TCA385217904PMELc.920C>A (p.Pro307Gln)
c.773C>A (p.Pro258Gln)
c.758C>A (p.Pro253Gln)
c.473C>A (p.Pro158Gln)
c.582C>A
c.358+1090C>A (n.358+1090C>A)
c.662C>A (p.Pro221Gln)
n.656C>A
 dbSNP gnomAD v2 gnomAD v4
12g.55957384G>ACA385217908PMELc.919C>T (p.Pro307Ser)
c.772C>T (p.Pro258Ser)
c.757C>T (p.Pro253Ser)
c.472C>T (p.Pro158Ser)
c.581C>T
c.358+1089C>T (n.358+1089C>T)
c.661C>T (p.Pro221Ser)
n.655C>T
12g.55957384G>CCA385217910PMELc.919C>G (p.Pro307Ala)
c.772C>G (p.Pro258Ala)
c.757C>G (p.Pro253Ala)
c.472C>G (p.Pro158Ala)
c.581C>G
c.358+1089C>G (n.358+1089C>G)
c.661C>G (p.Pro221Ala)
n.655C>G
 gnomAD v4
12g.55957384G=CA2038181603PMELc.919C= (p.Pro307=)
c.772C= (p.Pro258=)
c.757C= (p.Pro253=)
c.472C= (p.Pro158=)
c.581C=
c.358+1089C= (n.358+1089C=)
c.661C= (p.Pro221=)
n.655C=
12g.55957384G>TCA385217912PMELc.919C>A (p.Pro307Thr)
c.772C>A (p.Pro258Thr)
c.757C>A (p.Pro253Thr)
c.472C>A (p.Pro158Thr)
c.581C>A
c.358+1089C>A (n.358+1089C>A)
c.661C>A (p.Pro221Thr)
n.655C>A
 dbSNP gnomAD v2 gnomAD v4
12g.55957385A>CCA480365077PMELc.918T>G (p.Val306=)
c.771T>G (p.Val257=)
c.756T>G (p.Val252=)
c.471T>G (p.Val157=)
c.580T>G
c.358+1088T>G (n.358+1088T>G)
c.660T>G (p.Val220=)
n.654T>G
12g.55957385A>GCA480365078PMELc.918T>C (p.Val306=)
c.771T>C (p.Val257=)
c.756T>C (p.Val252=)
c.471T>C (p.Val157=)
c.580T>C
c.358+1088T>C (n.358+1088T>C)
c.660T>C (p.Val220=)
n.654T>C
12g.55957385A>TCA480365079PMELc.918T>A (p.Val306=)
c.771T>A (p.Val257=)
c.756T>A (p.Val252=)
c.471T>A (p.Val157=)
c.580T>A
c.358+1088T>A (n.358+1088T>A)
c.660T>A (p.Val220=)
n.654T>A
12g.55957386A>CCA385217914PMELc.917T>G (p.Val306Gly)
c.770T>G (p.Val257Gly)
c.755T>G (p.Val252Gly)
c.470T>G (p.Val157Gly)
c.579T>G
c.358+1087T>G (n.358+1087T>G)
c.659T>G (p.Val220Gly)
n.653T>G
12g.55957386A>GCA385217915PMELc.917T>C (p.Val306Ala)
c.770T>C (p.Val257Ala)
c.755T>C (p.Val252Ala)
c.470T>C (p.Val157Ala)
c.579T>C
c.358+1087T>C (n.358+1087T>C)
c.659T>C (p.Val220Ala)
n.653T>C
 gnomAD v4
12g.55957386A>TCA385217916PMELc.917T>A (p.Val306Asp)
c.770T>A (p.Val257Asp)
c.755T>A (p.Val252Asp)
c.470T>A (p.Val157Asp)
c.579T>A
c.358+1087T>A (n.358+1087T>A)
c.659T>A (p.Val220Asp)
n.653T>A
12g.55957387C>ACA385217917PMELc.916G>T (p.Val306Phe)
c.769G>T (p.Val257Phe)
c.754G>T (p.Val252Phe)
c.470-1G>T (n.470-1G>T)
c.578G>T
c.358+1086G>T (n.358+1086G>T)
c.658G>T (p.Val220Phe)
n.652G>T
 gnomAD v4
12g.55957387C=CA2038181607PMELc.916G= (p.Val306=)
c.769G= (p.Val257=)
c.754G= (p.Val252=)
c.470-1G= (n.470-1G=)
c.578G=
c.358+1086G= (n.358+1086G=)
c.658G= (p.Val220=)
n.652G=
12g.55957387C>GCA6620100PMELc.916G>C (p.Val306Leu)
c.769G>C (p.Val257Leu)
c.754G>C (p.Val252Leu)
c.470-1G>C (n.470-1G>C)
c.578G>C
c.358+1086G>C (n.358+1086G>C)
c.658G>C (p.Val220Leu)
n.652G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957387C>TCA385217918PMELc.916G>A (p.Val306Ile)
c.769G>A (p.Val257Ile)
c.754G>A (p.Val252Ile)
c.470-1G>A (n.470-1G>A)
c.578G>A
c.358+1086G>A (n.358+1086G>A)
c.658G>A (p.Val220Ile)
n.652G>A
 dbSNP
12g.55957388T>ACA385217919PMELc.915A>T (p.Pro305=)
c.768A>T (p.Pro256=)
c.753A>T (p.Pro251=)
c.470-2A>T (n.470-2A>T)
c.577A>T
c.358+1085A>T (n.358+1085A>T)
c.657A>T (p.Pro219=)
n.651A>T
12g.55957388T>CCA385217920PMELc.915A>G (p.Pro305=)
c.768A>G (p.Pro256=)
c.753A>G (p.Pro251=)
c.470-2A>G (n.470-2A>G)
c.577A>G
c.358+1085A>G (n.358+1085A>G)
c.657A>G (p.Pro219=)
n.651A>G
12g.55957388T>GCA385217921PMELc.915A>C (p.Pro305=)
c.768A>C (p.Pro256=)
c.753A>C (p.Pro251=)
c.470-2A>C (n.470-2A>C)
c.577A>C
c.358+1085A>C (n.358+1085A>C)
c.657A>C (p.Pro219=)
n.651A>C
12g.55957389G>ACA6620101PMELc.914C>T (p.Pro305Leu)
c.767C>T (p.Pro256Leu)
c.752C>T (p.Pro251Leu)
c.470-3C>T (n.470-3C>T)
c.576C>T
c.358+1084C>T (n.358+1084C>T)
c.656C>T (p.Pro219Leu)
n.650C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957389G>CCA385217922PMELc.914C>G (p.Pro305Arg)
c.767C>G (p.Pro256Arg)
c.752C>G (p.Pro251Arg)
c.470-3C>G (n.470-3C>G)
c.576C>G
c.358+1084C>G (n.358+1084C>G)
c.656C>G (p.Pro219Arg)
n.650C>G
12g.55957389G=CA2038181611PMELc.914C= (p.Pro305=)
c.767C= (p.Pro256=)
c.752C= (p.Pro251=)
c.470-3C= (n.470-3C=)
c.576C=
c.358+1084C= (n.358+1084C=)
c.656C= (p.Pro219=)
n.650C=
12g.55957389G>TCA385217923PMELc.914C>A (p.Pro305Gln)
c.767C>A (p.Pro256Gln)
c.752C>A (p.Pro251Gln)
c.470-3C>A (n.470-3C>A)
c.576C>A
c.358+1084C>A (n.358+1084C>A)
c.656C>A (p.Pro219Gln)
n.650C>A
12g.55957390G>ACA385217924PMELc.913C>T (p.Pro305Ser)
c.766C>T (p.Pro256Ser)
c.751C>T (p.Pro251Ser)
c.470-4C>T (n.470-4C>T)
c.575C>T
c.358+1083C>T (n.358+1083C>T)
c.655C>T (p.Pro219Ser)
n.649C>T
12g.55957390G>CCA385217925PMELc.913C>G (p.Pro305Ala)
c.766C>G (p.Pro256Ala)
c.751C>G (p.Pro251Ala)
c.470-4C>G (n.470-4C>G)
c.575C>G
c.358+1083C>G (n.358+1083C>G)
c.655C>G (p.Pro219Ala)
n.649C>G
12g.55957390G>TCA385217926PMELc.913C>A (p.Pro305Thr)
c.766C>A (p.Pro256Thr)
c.751C>A (p.Pro251Thr)
c.470-4C>A (n.470-4C>A)
c.575C>A
c.358+1083C>A (n.358+1083C>A)
c.655C>A (p.Pro219Thr)
n.649C>A
12g.55957391G>ACA480365082PMELc.912C>T (p.Ser304=)
c.765C>T (p.Ser255=)
c.750C>T (p.Ser250=)
c.470-5C>T (n.470-5C>T)
c.574C>T
c.358+1082C>T (n.358+1082C>T)
c.654C>T (p.Ser218=)
n.648C>T
 dbSNP
12g.55957391G>CCA480365083PMELc.912C>G (p.Ser304=)
c.765C>G (p.Ser255=)
c.750C>G (p.Ser250=)
c.470-5C>G (n.470-5C>G)
c.574C>G
c.358+1082C>G (n.358+1082C>G)
c.654C>G (p.Ser218=)
n.648C>G
12g.55957391G=CA2038181615PMELc.912C= (p.Ser304=)
c.765C= (p.Ser255=)
c.750C= (p.Ser250=)
c.470-5C= (n.470-5C=)
c.574C=
c.358+1082C= (n.358+1082C=)
c.654C= (p.Ser218=)
n.648C=
12g.55957391G>TCA480365081PMELc.912C>A (p.Ser304=)
c.765C>A (p.Ser255=)
c.750C>A (p.Ser250=)
c.470-5C>A (n.470-5C>A)
c.574C>A
c.358+1082C>A (n.358+1082C>A)
c.654C>A (p.Ser218=)
n.648C>A
 dbSNP gnomAD v3 gnomAD v4
12g.55957392G>ACA385217927PMELc.911C>T (p.Ser304Phe)
c.764C>T (p.Ser255Phe)
c.749C>T (p.Ser250Phe)
c.470-6C>T (n.470-6C>T)
c.573C>T
c.358+1081C>T (n.358+1081C>T)
c.653C>T (p.Ser218Phe)
n.647C>T
12g.55957392G>CCA385217928PMELc.911C>G (p.Ser304Cys)
c.764C>G (p.Ser255Cys)
c.749C>G (p.Ser250Cys)
c.470-6C>G (n.470-6C>G)
c.573C>G
c.358+1081C>G (n.358+1081C>G)
c.653C>G (p.Ser218Cys)
n.647C>G
12g.55957392G>TCA385217929PMELc.911C>A (p.Ser304Tyr)
c.764C>A (p.Ser255Tyr)
c.749C>A (p.Ser250Tyr)
c.470-6C>A (n.470-6C>A)
c.573C>A
c.358+1081C>A (n.358+1081C>A)
c.653C>A (p.Ser218Tyr)
n.647C>A
12g.55957393A=CA2038181619PMELc.910T= (p.Ser304=)
c.763T= (p.Ser255=)
c.748T= (p.Ser250=)
c.470-7T= (n.470-7T=)
c.572T=
c.358+1080T= (n.358+1080T=)
c.652T= (p.Ser218=)
n.646T=
12g.55957393A>CCA385217930PMELc.910T>G (p.Ser304Ala)
c.763T>G (p.Ser255Ala)
c.748T>G (p.Ser250Ala)
c.470-7T>G (n.470-7T>G)
c.572T>G
c.358+1080T>G (n.358+1080T>G)
c.652T>G (p.Ser218Ala)
n.646T>G
12g.55957393A>GCA385217932PMELc.910T>C (p.Ser304Pro)
c.763T>C (p.Ser255Pro)
c.748T>C (p.Ser250Pro)
c.470-7T>C (n.470-7T>C)
c.572T>C
c.358+1080T>C (n.358+1080T>C)
c.652T>C (p.Ser218Pro)
n.646T>C
 dbSNP gnomAD v4
12g.55957393A>TCA385217931PMELc.910T>A (p.Ser304Thr)
c.763T>A (p.Ser255Thr)
c.748T>A (p.Ser250Thr)
c.470-7T>A (n.470-7T>A)
c.572T>A
c.358+1080T>A (n.358+1080T>A)
c.652T>A (p.Ser218Thr)
n.646T>A
12g.55957394G>ACA480365085PMELc.909C>T (p.Ser303=)
c.762C>T (p.Ser254=)
c.747C>T (p.Ser249=)
c.470-8C>T (n.470-8C>T)
c.571C>T
c.358+1079C>T (n.358+1079C>T)
c.651C>T (p.Ser217=)
n.645C>T
12g.55957394G>CCA480365086PMELc.909C>G (p.Ser303=)
c.762C>G (p.Ser254=)
c.747C>G (p.Ser249=)
c.470-8C>G (n.470-8C>G)
c.571C>G
c.358+1079C>G (n.358+1079C>G)
c.651C>G (p.Ser217=)
n.645C>G
12g.55957394G>TCA480365087PMELc.909C>A (p.Ser303=)
c.762C>A (p.Ser254=)
c.747C>A (p.Ser249=)
c.470-8C>A (n.470-8C>A)
c.571C>A
c.358+1079C>A (n.358+1079C>A)
c.651C>A (p.Ser217=)
n.645C>A
12g.55957395G>ACA385217933PMELc.908C>T (p.Ser303Phe)
c.761C>T (p.Ser254Phe)
c.746C>T (p.Ser249Phe)
c.470-9C>T (n.470-9C>T)
c.570C>T
c.358+1078C>T (n.358+1078C>T)
c.650C>T (p.Ser217Phe)
n.644C>T
12g.55957395G>CCA385217934PMELc.908C>G (p.Ser303Cys)
c.761C>G (p.Ser254Cys)
c.746C>G (p.Ser249Cys)
c.470-9C>G (n.470-9C>G)
c.570C>G
c.358+1078C>G (n.358+1078C>G)
c.650C>G (p.Ser217Cys)
n.644C>G
12g.55957395G>TCA385217935PMELc.908C>A (p.Ser303Tyr)
c.761C>A (p.Ser254Tyr)
c.746C>A (p.Ser249Tyr)
c.470-9C>A (n.470-9C>A)
c.570C>A
c.358+1078C>A (n.358+1078C>A)
c.650C>A (p.Ser217Tyr)
n.644C>A
12g.55957396A>CCA385217936PMELc.907T>G (p.Ser303Ala)
c.760T>G (p.Ser254Ala)
c.745T>G (p.Ser249Ala)
c.470-10T>G (n.470-10T>G)
c.569T>G
c.358+1077T>G (n.358+1077T>G)
c.649T>G (p.Ser217Ala)
n.643T>G
12g.55957396A>GCA385217937PMELc.907T>C (p.Ser303Pro)
c.760T>C (p.Ser254Pro)
c.745T>C (p.Ser249Pro)
c.470-10T>C (n.470-10T>C)
c.569T>C
c.358+1077T>C (n.358+1077T>C)
c.649T>C (p.Ser217Pro)
n.643T>C
12g.55957396A>TCA385217938PMELc.907T>A (p.Ser303Thr)
c.760T>A (p.Ser254Thr)
c.745T>A (p.Ser249Thr)
c.470-10T>A (n.470-10T>A)
c.569T>A
c.358+1077T>A (n.358+1077T>A)
c.649T>A (p.Ser217Thr)
n.643T>A
12g.55957397G>ACA480365091PMELc.906C>T (p.Gly302=)
c.759C>T (p.Gly253=)
c.744C>T (p.Gly248=)
c.470-11C>T (n.470-11C>T)
c.568C>T
c.358+1076C>T (n.358+1076C>T)
c.648C>T (p.Gly216=)
n.642C>T
 dbSNP gnomAD v4
12g.55957397G>CCA480365089PMELc.906C>G (p.Gly302=)
c.759C>G (p.Gly253=)
c.744C>G (p.Gly248=)
c.470-11C>G (n.470-11C>G)
c.568C>G
c.358+1076C>G (n.358+1076C>G)
c.648C>G (p.Gly216=)
n.642C>G
12g.55957397G=CA2038181624PMELc.906C= (p.Gly302=)
c.759C= (p.Gly253=)
c.744C= (p.Gly248=)
c.470-11C= (n.470-11C=)
c.568C=
c.358+1076C= (n.358+1076C=)
c.648C= (p.Gly216=)
n.642C=
12g.55957397G>TCA480365090PMELc.906C>A (p.Gly302=)
c.759C>A (p.Gly253=)
c.744C>A (p.Gly248=)
c.470-11C>A (n.470-11C>A)
c.568C>A
c.358+1076C>A (n.358+1076C>A)
c.648C>A (p.Gly216=)
n.642C>A
12g.55957398C>ACA385217941PMELc.905G>T (p.Gly302Val)
c.758G>T (p.Gly253Val)
c.743G>T (p.Gly248Val)
c.470-12G>T (n.470-12G>T)
c.567G>T
c.358+1075G>T (n.358+1075G>T)
c.647G>T (p.Gly216Val)
n.641G>T
12g.55957398C>GCA385217939PMELc.905G>C (p.Gly302Ala)
c.758G>C (p.Gly253Ala)
c.743G>C (p.Gly248Ala)
c.470-12G>C (n.470-12G>C)
c.567G>C
c.358+1075G>C (n.358+1075G>C)
c.647G>C (p.Gly216Ala)
n.641G>C
12g.55957398C>TCA385217940PMELc.905G>A (p.Gly302Asp)
c.758G>A (p.Gly253Asp)
c.743G>A (p.Gly248Asp)
c.470-12G>A (n.470-12G>A)
c.567G>A
c.358+1075G>A (n.358+1075G>A)
c.647G>A (p.Gly216Asp)
n.641G>A
 gnomAD v4
12g.55957399C>ACA385217942PMELc.904G>T (p.Gly302Cys)
c.757G>T (p.Gly253Cys)
c.742G>T (p.Gly248Cys)
c.470-13G>T (n.470-13G>T)
c.566G>T
c.358+1074G>T (n.358+1074G>T)
c.646G>T (p.Gly216Cys)
n.640G>T
12g.55957399C>GCA385217943PMELc.904G>C (p.Gly302Arg)
c.757G>C (p.Gly253Arg)
c.742G>C (p.Gly248Arg)
c.470-13G>C (n.470-13G>C)
c.566G>C
c.358+1074G>C (n.358+1074G>C)
c.646G>C (p.Gly216Arg)
n.640G>C
12g.55957399C>TCA385217944PMELc.904G>A (p.Gly302Ser)
c.757G>A (p.Gly253Ser)
c.742G>A (p.Gly248Ser)
c.470-13G>A (n.470-13G>A)
c.566G>A
c.358+1074G>A (n.358+1074G>A)
c.646G>A (p.Gly216Ser)
n.640G>A
12g.55957400A>CCA385217945PMELc.903T>G (p.Cys301Trp)
c.756T>G (p.Cys252Trp)
c.741T>G (p.Cys247Trp)
c.470-14T>G (n.470-14T>G)
c.565T>G
c.358+1073T>G (n.358+1073T>G)
c.645T>G (p.Cys215Trp)
n.639T>G
12g.55957400A>GCA480365092PMELc.903T>C (p.Cys301=)
c.756T>C (p.Cys252=)
c.741T>C (p.Cys247=)
c.470-14T>C (n.470-14T>C)
c.565T>C
c.358+1073T>C (n.358+1073T>C)
c.645T>C (p.Cys215=)
n.639T>C
12g.55957400A>TCA385217946PMELc.903T>A (p.Cys301Ter)
c.756T>A (p.Cys252Ter)
c.741T>A (p.Cys247Ter)
c.470-14T>A (n.470-14T>A)
c.565T>A
c.358+1073T>A (n.358+1073T>A)
c.645T>A (p.Cys215Ter)
n.639T>A
12g.55957401C>ACA385217947PMELc.902G>T (p.Cys301Phe)
c.755G>T (p.Cys252Phe)
c.740G>T (p.Cys247Phe)
c.470-15G>T (n.470-15G>T)
c.564G>T
c.358+1072G>T (n.358+1072G>T)
c.644G>T (p.Cys215Phe)
n.638G>T
12g.55957401C=CA2038181628PMELc.902G= (p.Cys301=)
c.755G= (p.Cys252=)
c.740G= (p.Cys247=)
c.470-15G= (n.470-15G=)
c.564G=
c.358+1072G= (n.358+1072G=)
c.644G= (p.Cys215=)
n.638G=
12g.55957401C>GCA385217949PMELc.902G>C (p.Cys301Ser)
c.755G>C (p.Cys252Ser)
c.740G>C (p.Cys247Ser)
c.470-15G>C (n.470-15G>C)
c.564G>C
c.358+1072G>C (n.358+1072G>C)
c.644G>C (p.Cys215Ser)
n.638G>C
12g.55957401C>TCA385217948PMELc.902G>A (p.Cys301Tyr)
c.755G>A (p.Cys252Tyr)
c.740G>A (p.Cys247Tyr)
c.470-15G>A (n.470-15G>A)
c.564G>A
c.358+1072G>A (n.358+1072G>A)
c.644G>A (p.Cys215Tyr)
n.638G>A
 dbSNP gnomAD v2 gnomAD v4
12g.55957402A>CCA385217950PMELc.901T>G (p.Cys301Gly)
c.754T>G (p.Cys252Gly)
c.739T>G (p.Cys247Gly)
c.470-16T>G (n.470-16T>G)
c.563T>G
c.358+1071T>G (n.358+1071T>G)
c.643T>G (p.Cys215Gly)
n.637T>G
12g.55957402A>GCA385217951PMELc.901T>C (p.Cys301Arg)
c.754T>C (p.Cys252Arg)
c.739T>C (p.Cys247Arg)
c.470-16T>C (n.470-16T>C)
c.563T>C
c.358+1071T>C (n.358+1071T>C)
c.643T>C (p.Cys215Arg)
n.637T>C
12g.55957402A>TCA385217952PMELc.901T>A (p.Cys301Ser)
c.754T>A (p.Cys252Ser)
c.739T>A (p.Cys247Ser)
c.470-16T>A (n.470-16T>A)
c.563T>A
c.358+1071T>A (n.358+1071T>A)
c.643T>A (p.Cys215Ser)
n.637T>A
12g.55957403G>ACA480365098PMELc.900C>T (p.Ser300=)
c.753C>T (p.Ser251=)
c.738C>T (p.Ser246=)
c.470-17C>T (n.470-17C>T)
c.562C>T
c.358+1070C>T (n.358+1070C>T)
c.642C>T (p.Ser214=)
n.636C>T
 gnomAD v4
12g.55957403G>CCA480365096PMELc.900C>G (p.Ser300=)
c.753C>G (p.Ser251=)
c.738C>G (p.Ser246=)
c.470-17C>G (n.470-17C>G)
c.562C>G
c.358+1070C>G (n.358+1070C>G)
c.642C>G (p.Ser214=)
n.636C>G
12g.55957403G>TCA480365097PMELc.900C>A (p.Ser300=)
c.753C>A (p.Ser251=)
c.738C>A (p.Ser246=)
c.470-17C>A (n.470-17C>A)
c.562C>A
c.358+1070C>A (n.358+1070C>A)
c.642C>A (p.Ser214=)
n.636C>A
12g.55957404G>ACA385217953PMELc.899C>T (p.Ser300Phe)
c.752C>T (p.Ser251Phe)
c.737C>T (p.Ser246Phe)
c.470-18C>T (n.470-18C>T)
c.561C>T
c.358+1069C>T (n.358+1069C>T)
c.641C>T (p.Ser214Phe)
n.635C>T
12g.55957404G>CCA385217954PMELc.899C>G (p.Ser300Cys)
c.752C>G (p.Ser251Cys)
c.737C>G (p.Ser246Cys)
c.470-18C>G (n.470-18C>G)
c.561C>G
c.358+1069C>G (n.358+1069C>G)
c.641C>G (p.Ser214Cys)
n.635C>G
12g.55957404G>TCA385217955PMELc.899C>A (p.Ser300Tyr)
c.752C>A (p.Ser251Tyr)
c.737C>A (p.Ser246Tyr)
c.470-18C>A (n.470-18C>A)
c.561C>A
c.358+1069C>A (n.358+1069C>A)
c.641C>A (p.Ser214Tyr)
n.635C>A
12g.55957405A>CCA385217956PMELc.898T>G (p.Ser300Ala)
c.751T>G (p.Ser251Ala)
c.736T>G (p.Ser246Ala)
c.470-19T>G (n.470-19T>G)
c.560T>G
c.358+1068T>G (n.358+1068T>G)
c.640T>G (p.Ser214Ala)
n.634T>G
12g.55957405A>GCA385217957PMELc.898T>C (p.Ser300Pro)
c.751T>C (p.Ser251Pro)
c.736T>C (p.Ser246Pro)
c.470-19T>C (n.470-19T>C)
c.560T>C
c.358+1068T>C (n.358+1068T>C)
c.640T>C (p.Ser214Pro)
n.634T>C
12g.55957405A>TCA385217958PMELc.898T>A (p.Ser300Thr)
c.751T>A (p.Ser251Thr)
c.736T>A (p.Ser246Thr)
c.470-19T>A (n.470-19T>A)
c.560T>A
c.358+1068T>A (n.358+1068T>A)
c.640T>A (p.Ser214Thr)
n.634T>A
12g.55957406G>ACA480365100PMELc.897C>T (p.Thr299=)
c.750C>T (p.Thr250=)
c.735C>T (p.Thr245=)
c.470-20C>T (n.470-20C>T)
c.559C>T
c.358+1067C>T (n.358+1067C>T)
c.639C>T (p.Thr213=)
n.633C>T
12g.55957406G>CCA480365101PMELc.897C>G (p.Thr299=)
c.750C>G (p.Thr250=)
c.735C>G (p.Thr245=)
c.470-20C>G (n.470-20C>G)
c.559C>G
c.358+1067C>G (n.358+1067C>G)
c.639C>G (p.Thr213=)
n.633C>G
 gnomAD v4
12g.55957406G=CA2038181631PMELc.897C= (p.Thr299=)
c.750C= (p.Thr250=)
c.735C= (p.Thr245=)
c.470-20C= (n.470-20C=)
c.559C=
c.358+1067C= (n.358+1067C=)
c.639C= (p.Thr213=)
n.633C=
12g.55957406G>TCA6620102PMELc.897C>A (p.Thr299=)
c.750C>A (p.Thr250=)
c.735C>A (p.Thr245=)
c.470-20C>A (n.470-20C>A)
c.559C>A
c.358+1067C>A (n.358+1067C>A)
c.639C>A (p.Thr213=)
n.633C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957407G>ACA385217961PMELc.896C>T (p.Thr299Ile)
c.749C>T (p.Thr250Ile)
c.734C>T (p.Thr245Ile)
c.470-21C>T (n.470-21C>T)
c.558C>T
c.358+1066C>T (n.358+1066C>T)
c.638C>T (p.Thr213Ile)
n.632C>T
 dbSNP
12g.55957407G>CCA385217960PMELc.896C>G (p.Thr299Ser)
c.749C>G (p.Thr250Ser)
c.734C>G (p.Thr245Ser)
c.470-21C>G (n.470-21C>G)
c.558C>G
c.358+1066C>G (n.358+1066C>G)
c.638C>G (p.Thr213Ser)
n.632C>G
12g.55957407G=CA2038181634PMELc.896C= (p.Thr299=)
c.749C= (p.Thr250=)
c.734C= (p.Thr245=)
c.470-21C= (n.470-21C=)
c.558C=
c.358+1066C= (n.358+1066C=)
c.638C= (p.Thr213=)
n.632C=
12g.55957407G>TCA385217959PMELc.896C>A (p.Thr299Asn)
c.749C>A (p.Thr250Asn)
c.734C>A (p.Thr245Asn)
c.470-21C>A (n.470-21C>A)
c.558C>A
c.358+1066C>A (n.358+1066C>A)
c.638C>A (p.Thr213Asn)
n.632C>A
12g.55957408T>ACA385217962PMELc.895A>T (p.Thr299Ser)
c.748A>T (p.Thr250Ser)
c.733A>T (p.Thr245Ser)
c.470-22A>T (n.470-22A>T)
c.557A>T
c.358+1065A>T (n.358+1065A>T)
c.637A>T (p.Thr213Ser)
n.631A>T
12g.55957408T>CCA385217964PMELc.895A>G (p.Thr299Ala)
c.748A>G (p.Thr250Ala)
c.733A>G (p.Thr245Ala)
c.470-22A>G (n.470-22A>G)
c.557A>G
c.358+1065A>G (n.358+1065A>G)
c.637A>G (p.Thr213Ala)
n.631A>G
 gnomAD v4
12g.55957408T>GCA385217963PMELc.895A>C (p.Thr299Pro)
c.748A>C (p.Thr250Pro)
c.733A>C (p.Thr245Pro)
c.470-22A>C (n.470-22A>C)
c.557A>C
c.358+1065A>C (n.358+1065A>C)
c.637A>C (p.Thr213Pro)
n.631A>C
 dbSNP
12g.55957408T=CA2038181637PMELc.895A= (p.Thr299=)
c.748A= (p.Thr250=)
c.733A= (p.Thr245=)
c.470-22A= (n.470-22A=)
c.557A=
c.358+1065A= (n.358+1065A=)
c.637A= (p.Thr213=)
n.631A=
12g.55957409G>ACA480365102PMELc.894C>T (p.Leu298=)
c.747C>T (p.Leu249=)
c.732C>T (p.Leu244=)
c.470-23C>T (n.470-23C>T)
c.556C>T
c.358+1064C>T (n.358+1064C>T)
c.636C>T (p.Leu212=)
n.630C>T
 dbSNP gnomAD v4
12g.55957409G>CCA480365103PMELc.894C>G (p.Leu298=)
c.747C>G (p.Leu249=)
c.732C>G (p.Leu244=)
c.470-23C>G (n.470-23C>G)
c.556C>G
c.358+1064C>G (n.358+1064C>G)
c.636C>G (p.Leu212=)
n.630C>G
12g.55957409G=CA2038181641PMELc.894C= (p.Leu298=)
c.747C= (p.Leu249=)
c.732C= (p.Leu244=)
c.470-23C= (n.470-23C=)
c.556C=
c.358+1064C= (n.358+1064C=)
c.636C= (p.Leu212=)
n.630C=
12g.55957409G>TCA480365104PMELc.894C>A (p.Leu298=)
c.747C>A (p.Leu249=)
c.732C>A (p.Leu244=)
c.470-23C>A (n.470-23C>A)
c.556C>A
c.358+1064C>A (n.358+1064C>A)
c.636C>A (p.Leu212=)
n.630C>A

Number of alleles fetched