Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74892732dupCA2629529443MPIc.417dup (p.Ile140HisfsTer16)
c.267dup (p.Ile90HisfsTer16)
c.*313dup (n.*313dup)
c.357dup (p.Ile120HisfsTer16)
c.255+1243dup (n.255+1243dup)
n.448dup
c.375dup (p.Ile126HisfsTer16)
c.378dup (p.Ile127HisfsTer16)
c.357dup
c.381dup (p.Ile128HisfsTer16)
n.526dup
c.327dup (p.Ile110HisfsTer16)
c.474dup (p.Ile159HisfsTer16)
c.405dup (p.Ile136HisfsTer16)
 gnomAD v4
15g.74892732C>ACA491220355MPIc.417C>A (p.Ala139=)
c.267C>A (p.Ala89=)
c.*313C>A (n.*313C>A)
c.357C>A (p.Ala119=)
c.255+1243C>A (n.255+1243C>A)
n.448C>A
c.375C>A (p.Ala125=)
c.378C>A (p.Ala126=)
c.381C>A (p.Ala127=)
n.526C>A
c.327C>A (p.Ala109=)
c.474C>A (p.Ala158=)
c.405C>A (p.Ala135=)
15g.74892732C=CA2187896830MPIc.417C= (p.Ala139=)
c.267C= (p.Ala89=)
c.*313C= (n.*313C=)
c.357C= (p.Ala119=)
c.255+1243C= (n.255+1243C=)
n.448C=
c.375C= (p.Ala125=)
c.378C= (p.Ala126=)
c.381C= (p.Ala127=)
n.526C=
c.327C= (p.Ala109=)
c.474C= (p.Ala158=)
c.405C= (p.Ala135=)
15g.74892732C>GCA491220357MPIc.417C>G (p.Ala139=)
c.267C>G (p.Ala89=)
c.*313C>G (n.*313C>G)
c.357C>G (p.Ala119=)
c.255+1243C>G (n.255+1243C>G)
n.448C>G
c.375C>G (p.Ala125=)
c.378C>G (p.Ala126=)
c.381C>G (p.Ala127=)
n.526C>G
c.327C>G (p.Ala109=)
c.474C>G (p.Ala158=)
c.405C>G (p.Ala135=)
15g.74892732C>TCA7662434MPIc.417C>T (p.Ala139=)
c.267C>T (p.Ala89=)
c.*313C>T (n.*313C>T)
c.357C>T (p.Ala119=)
c.255+1243C>T (n.255+1243C>T)
n.448C>T
c.375C>T (p.Ala125=)
c.378C>T (p.Ala126=)
c.381C>T (p.Ala127=)
n.526C>T
c.327C>T (p.Ala109=)
c.474C>T (p.Ala158=)
c.405C>T (p.Ala135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892733A=CA2187896832MPIc.418A= (p.Ile140=)
c.268A= (p.Ile90=)
c.*314A= (n.*314A=)
c.358A= (p.Ile120=)
c.255+1244A= (n.255+1244A=)
n.449A=
c.376A= (p.Ile126=)
c.379A= (p.Ile127=)
c.358A=
c.382A= (p.Ile128=)
n.527A=
c.328A= (p.Ile110=)
c.475A= (p.Ile159=)
c.406A= (p.Ile136=)
15g.74892733A>CCA393173483MPIc.418A>C (p.Ile140Leu)
c.268A>C (p.Ile90Leu)
c.*314A>C (n.*314A>C)
c.358A>C (p.Ile120Leu)
c.255+1244A>C (n.255+1244A>C)
n.449A>C
c.376A>C (p.Ile126Leu)
c.379A>C (p.Ile127Leu)
c.358A>C
c.382A>C (p.Ile128Leu)
n.527A>C
c.328A>C (p.Ile110Leu)
c.475A>C (p.Ile159Leu)
c.406A>C (p.Ile136Leu)
15g.74892733A>GCA272823200MPIc.418A>G (p.Ile140Val)
c.268A>G (p.Ile90Val)
c.*314A>G (n.*314A>G)
c.358A>G (p.Ile120Val)
c.255+1244A>G (n.255+1244A>G)
n.449A>G
c.376A>G (p.Ile126Val)
c.379A>G (p.Ile127Val)
c.358A>G
c.382A>G (p.Ile128Val)
n.527A>G
c.328A>G (p.Ile110Val)
c.475A>G (p.Ile159Val)
c.406A>G (p.Ile136Val)
 dbSNP gnomAD v4
15g.74892733A>TCA393173482MPIc.418A>T (p.Ile140Phe)
c.268A>T (p.Ile90Phe)
c.*314A>T (n.*314A>T)
c.358A>T (p.Ile120Phe)
c.255+1244A>T (n.255+1244A>T)
n.449A>T
c.376A>T (p.Ile126Phe)
c.379A>T (p.Ile127Phe)
c.358A>T
c.382A>T (p.Ile128Phe)
n.527A>T
c.328A>T (p.Ile110Phe)
c.475A>T (p.Ile159Phe)
c.406A>T (p.Ile136Phe)
15g.74892734T>ACA393173484MPIc.419T>A (p.Ile140Asn)
c.269T>A (p.Ile90Asn)
c.*315T>A (n.*315T>A)
c.359T>A (p.Ile120Asn)
c.255+1245T>A (n.255+1245T>A)
n.450T>A
c.377T>A (p.Ile126Asn)
c.380T>A (p.Ile127Asn)
c.383T>A (p.Ile128Asn)
n.528T>A
c.329T>A (p.Ile110Asn)
c.476T>A (p.Ile159Asn)
c.407T>A (p.Ile136Asn)
15g.74892734T>CCA7662435MPIc.419T>C (p.Ile140Thr)
c.269T>C (p.Ile90Thr)
c.*315T>C (n.*315T>C)
c.359T>C (p.Ile120Thr)
c.255+1245T>C (n.255+1245T>C)
n.450T>C
c.377T>C (p.Ile126Thr)
c.380T>C (p.Ile127Thr)
c.383T>C (p.Ile128Thr)
n.528T>C
c.329T>C (p.Ile110Thr)
c.476T>C (p.Ile159Thr)
c.407T>C (p.Ile136Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892734T>GCA393173485MPIc.419T>G (p.Ile140Ser)
c.269T>G (p.Ile90Ser)
c.*315T>G (n.*315T>G)
c.359T>G (p.Ile120Ser)
c.255+1245T>G (n.255+1245T>G)
n.450T>G
c.377T>G (p.Ile126Ser)
c.380T>G (p.Ile127Ser)
c.383T>G (p.Ile128Ser)
n.528T>G
c.329T>G (p.Ile110Ser)
c.476T>G (p.Ile159Ser)
c.407T>G (p.Ile136Ser)
15g.74892734T=CA2187896835MPIc.419T= (p.Ile140=)
c.269T= (p.Ile90=)
c.*315T= (n.*315T=)
c.359T= (p.Ile120=)
c.255+1245T= (n.255+1245T=)
n.450T=
c.377T= (p.Ile126=)
c.380T= (p.Ile127=)
c.383T= (p.Ile128=)
n.528T=
c.329T= (p.Ile110=)
c.476T= (p.Ile159=)
c.407T= (p.Ile136=)
15g.74892735T>ACA491220358MPIc.420T>A (p.Ile140=)
c.270T>A (p.Ile90=)
c.*316T>A (n.*316T>A)
c.360T>A (p.Ile120=)
c.255+1246T>A (n.255+1246T>A)
n.451T>A
c.378T>A (p.Ile126=)
c.381T>A (p.Ile127=)
c.384T>A (p.Ile128=)
n.529T>A
c.330T>A (p.Ile110=)
c.477T>A (p.Ile159=)
c.408T>A (p.Ile136=)
15g.74892735T>CCA491220359MPIc.420T>C (p.Ile140=)
c.270T>C (p.Ile90=)
c.*316T>C (n.*316T>C)
c.360T>C (p.Ile120=)
c.255+1246T>C (n.255+1246T>C)
n.451T>C
c.378T>C (p.Ile126=)
c.381T>C (p.Ile127=)
c.384T>C (p.Ile128=)
n.529T>C
c.330T>C (p.Ile110=)
c.477T>C (p.Ile159=)
c.408T>C (p.Ile136=)
15g.74892735T>GCA393173486MPIc.420T>G (p.Ile140Met)
c.270T>G (p.Ile90Met)
c.*316T>G (n.*316T>G)
c.360T>G (p.Ile120Met)
c.255+1246T>G (n.255+1246T>G)
n.451T>G
c.378T>G (p.Ile126Met)
c.381T>G (p.Ile127Met)
c.384T>G (p.Ile128Met)
n.529T>G
c.330T>G (p.Ile110Met)
c.477T>G (p.Ile159Met)
c.408T>G (p.Ile136Met)
15g.74892736G>ACA393173487MPIc.421G>A (p.Ala141Thr)
c.271G>A (p.Ala91Thr)
c.*317G>A (n.*317G>A)
c.361G>A (p.Ala121Thr)
c.255+1247G>A (n.255+1247G>A)
n.452G>A
c.379G>A (p.Ala127Thr)
c.382G>A (p.Ala128Thr)
c.385G>A (p.Ala129Thr)
n.530G>A
c.331G>A (p.Ala111Thr)
c.478G>A (p.Ala160Thr)
c.409G>A (p.Ala137Thr)
 COSMIC
15g.74892736G>CCA393173488MPIc.421G>C (p.Ala141Pro)
c.271G>C (p.Ala91Pro)
c.*317G>C (n.*317G>C)
c.361G>C (p.Ala121Pro)
c.255+1247G>C (n.255+1247G>C)
n.452G>C
c.379G>C (p.Ala127Pro)
c.382G>C (p.Ala128Pro)
c.385G>C (p.Ala129Pro)
n.530G>C
c.331G>C (p.Ala111Pro)
c.478G>C (p.Ala160Pro)
c.409G>C (p.Ala137Pro)
15g.74892736G>TCA393173489MPIc.421G>T (p.Ala141Ser)
c.271G>T (p.Ala91Ser)
c.*317G>T (n.*317G>T)
c.361G>T (p.Ala121Ser)
c.255+1247G>T (n.255+1247G>T)
n.452G>T
c.379G>T (p.Ala127Ser)
c.382G>T (p.Ala128Ser)
c.385G>T (p.Ala129Ser)
n.530G>T
c.331G>T (p.Ala111Ser)
c.478G>T (p.Ala160Ser)
c.409G>T (p.Ala137Ser)
15g.74892737C>ACA393173490MPIc.422C>A (p.Ala141Asp)
c.272C>A (p.Ala91Asp)
c.*318C>A (n.*318C>A)
c.362C>A (p.Ala121Asp)
c.255+1248C>A (n.255+1248C>A)
n.453C>A
c.380C>A (p.Ala127Asp)
c.383C>A (p.Ala128Asp)
c.386C>A (p.Ala129Asp)
n.531C>A
c.332C>A (p.Ala111Asp)
c.479C>A (p.Ala160Asp)
c.410C>A (p.Ala137Asp)
15g.74892737C>GCA393173491MPIc.422C>G (p.Ala141Gly)
c.272C>G (p.Ala91Gly)
c.*318C>G (n.*318C>G)
c.362C>G (p.Ala121Gly)
c.255+1248C>G (n.255+1248C>G)
n.453C>G
c.380C>G (p.Ala127Gly)
c.383C>G (p.Ala128Gly)
c.386C>G (p.Ala129Gly)
n.531C>G
c.332C>G (p.Ala111Gly)
c.479C>G (p.Ala160Gly)
c.410C>G (p.Ala137Gly)
15g.74892737C>TCA393173492MPIc.422C>T (p.Ala141Val)
c.272C>T (p.Ala91Val)
c.*318C>T (n.*318C>T)
c.362C>T (p.Ala121Val)
c.255+1248C>T (n.255+1248C>T)
n.453C>T
c.380C>T (p.Ala127Val)
c.383C>T (p.Ala128Val)
c.386C>T (p.Ala129Val)
n.531C>T
c.332C>T (p.Ala111Val)
c.479C>T (p.Ala160Val)
c.410C>T (p.Ala137Val)
15g.74892738C>ACA7662436MPIc.423C>A (p.Ala141=)
c.273C>A (p.Ala91=)
c.*319C>A (n.*319C>A)
c.363C>A (p.Ala121=)
c.255+1249C>A (n.255+1249C>A)
n.454C>A
c.381C>A (p.Ala127=)
c.384C>A (p.Ala128=)
c.387C>A (p.Ala129=)
n.532C>A
c.333C>A (p.Ala111=)
c.480C>A (p.Ala160=)
c.411C>A (p.Ala137=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892738C=CA2187896837MPIc.423C= (p.Ala141=)
c.273C= (p.Ala91=)
c.*319C= (n.*319C=)
c.363C= (p.Ala121=)
c.255+1249C= (n.255+1249C=)
n.454C=
c.381C= (p.Ala127=)
c.384C= (p.Ala128=)
c.387C= (p.Ala129=)
n.532C=
c.333C= (p.Ala111=)
c.480C= (p.Ala160=)
c.411C= (p.Ala137=)
15g.74892738C>GCA491220364MPIc.423C>G (p.Ala141=)
c.273C>G (p.Ala91=)
c.*319C>G (n.*319C>G)
c.363C>G (p.Ala121=)
c.255+1249C>G (n.255+1249C>G)
n.454C>G
c.381C>G (p.Ala127=)
c.384C>G (p.Ala128=)
c.387C>G (p.Ala129=)
n.532C>G
c.333C>G (p.Ala111=)
c.480C>G (p.Ala160=)
c.411C>G (p.Ala137=)
15g.74892738C>TCA491220363MPIc.423C>T (p.Ala141=)
c.273C>T (p.Ala91=)
c.*319C>T (n.*319C>T)
c.363C>T (p.Ala121=)
c.255+1249C>T (n.255+1249C>T)
n.454C>T
c.381C>T (p.Ala127=)
c.384C>T (p.Ala128=)
c.387C>T (p.Ala129=)
n.532C>T
c.333C>T (p.Ala111=)
c.480C>T (p.Ala160=)
c.411C>T (p.Ala137=)
15g.74892739C>ACA393173493MPIc.424C>A (p.Leu142Ile)
c.274C>A (p.Leu92Ile)
c.*320C>A (n.*320C>A)
c.364C>A (p.Leu122Ile)
c.255+1250C>A (n.255+1250C>A)
n.455C>A
c.382C>A (p.Leu128Ile)
c.385C>A (p.Leu129Ile)
c.388C>A (p.Leu130Ile)
n.533C>A
c.334C>A (p.Leu112Ile)
c.481C>A (p.Leu161Ile)
c.412C>A (p.Leu138Ile)
15g.74892739C>GCA393173494MPIc.424C>G (p.Leu142Val)
c.274C>G (p.Leu92Val)
c.*320C>G (n.*320C>G)
c.364C>G (p.Leu122Val)
c.255+1250C>G (n.255+1250C>G)
n.455C>G
c.382C>G (p.Leu128Val)
c.385C>G (p.Leu129Val)
c.388C>G (p.Leu130Val)
n.533C>G
c.334C>G (p.Leu112Val)
c.481C>G (p.Leu161Val)
c.412C>G (p.Leu138Val)
15g.74892739C>TCA393173495MPIc.424C>T (p.Leu142Phe)
c.274C>T (p.Leu92Phe)
c.*320C>T (n.*320C>T)
c.364C>T (p.Leu122Phe)
c.255+1250C>T (n.255+1250C>T)
n.455C>T
c.382C>T (p.Leu128Phe)
c.385C>T (p.Leu129Phe)
c.388C>T (p.Leu130Phe)
n.533C>T
c.334C>T (p.Leu112Phe)
c.481C>T (p.Leu161Phe)
c.412C>T (p.Leu138Phe)
15g.74892740T>ACA393173498MPIc.425T>A (p.Leu142His)
c.275T>A (p.Leu92His)
c.*321T>A (n.*321T>A)
c.365T>A (p.Leu122His)
c.255+1251T>A (n.255+1251T>A)
n.456T>A
c.383T>A (p.Leu128His)
c.386T>A (p.Leu129His)
c.389T>A (p.Leu130His)
n.534T>A
c.335T>A (p.Leu112His)
c.482T>A (p.Leu161His)
c.413T>A (p.Leu138His)
15g.74892740T>CCA393173497MPIc.425T>C (p.Leu142Pro)
c.275T>C (p.Leu92Pro)
c.*321T>C (n.*321T>C)
c.365T>C (p.Leu122Pro)
c.255+1251T>C (n.255+1251T>C)
n.456T>C
c.383T>C (p.Leu128Pro)
c.386T>C (p.Leu129Pro)
c.389T>C (p.Leu130Pro)
n.534T>C
c.335T>C (p.Leu112Pro)
c.482T>C (p.Leu161Pro)
c.413T>C (p.Leu138Pro)
15g.74892740T>GCA393173496MPIc.425T>G (p.Leu142Arg)
c.275T>G (p.Leu92Arg)
c.*321T>G (n.*321T>G)
c.365T>G (p.Leu122Arg)
c.255+1251T>G (n.255+1251T>G)
n.456T>G
c.383T>G (p.Leu128Arg)
c.386T>G (p.Leu129Arg)
c.389T>G (p.Leu130Arg)
n.534T>G
c.335T>G (p.Leu112Arg)
c.482T>G (p.Leu161Arg)
c.413T>G (p.Leu138Arg)
15g.74892741C>ACA491220365MPIc.426C>A (p.Leu142=)
c.276C>A (p.Leu92=)
c.*322C>A (n.*322C>A)
c.366C>A (p.Leu122=)
c.255+1252C>A (n.255+1252C>A)
n.457C>A
c.384C>A (p.Leu128=)
c.387C>A (p.Leu129=)
c.390C>A (p.Leu130=)
n.535C>A
c.336C>A (p.Leu112=)
c.483C>A (p.Leu161=)
c.414C>A (p.Leu138=)
15g.74892741C>GCA491220366MPIc.426C>G (p.Leu142=)
c.276C>G (p.Leu92=)
c.*322C>G (n.*322C>G)
c.366C>G (p.Leu122=)
c.255+1252C>G (n.255+1252C>G)
n.457C>G
c.384C>G (p.Leu128=)
c.387C>G (p.Leu129=)
c.390C>G (p.Leu130=)
n.535C>G
c.336C>G (p.Leu112=)
c.483C>G (p.Leu161=)
c.414C>G (p.Leu138=)
 ClinVar gnomAD v4
15g.74892741C>TCA491220367MPIc.426C>T (p.Leu142=)
c.276C>T (p.Leu92=)
c.*322C>T (n.*322C>T)
c.366C>T (p.Leu122=)
c.255+1252C>T (n.255+1252C>T)
n.457C>T
c.384C>T (p.Leu128=)
c.387C>T (p.Leu129=)
c.390C>T (p.Leu130=)
n.535C>T
c.336C>T (p.Leu112=)
c.483C>T (p.Leu161=)
c.414C>T (p.Leu138=)
15g.74892742A>CCA393173499MPIc.427A>C (p.Thr143Pro)
c.277A>C (p.Thr93Pro)
c.*323A>C (n.*323A>C)
c.367A>C (p.Thr123Pro)
c.255+1253A>C (n.255+1253A>C)
n.458A>C
c.385A>C (p.Thr129Pro)
c.388A>C (p.Thr130Pro)
c.391A>C (p.Thr131Pro)
n.536A>C
c.337A>C (p.Thr113Pro)
c.484A>C (p.Thr162Pro)
c.415A>C (p.Thr139Pro)
15g.74892742A>GCA393173500MPIc.427A>G (p.Thr143Ala)
c.277A>G (p.Thr93Ala)
c.*323A>G (n.*323A>G)
c.367A>G (p.Thr123Ala)
c.255+1253A>G (n.255+1253A>G)
n.458A>G
c.385A>G (p.Thr129Ala)
c.388A>G (p.Thr130Ala)
c.391A>G (p.Thr131Ala)
n.536A>G
c.337A>G (p.Thr113Ala)
c.484A>G (p.Thr162Ala)
c.415A>G (p.Thr139Ala)
 gnomAD v4
15g.74892742A>TCA393173501MPIc.427A>T (p.Thr143Ser)
c.277A>T (p.Thr93Ser)
c.*323A>T (n.*323A>T)
c.367A>T (p.Thr123Ser)
c.255+1253A>T (n.255+1253A>T)
n.458A>T
c.385A>T (p.Thr129Ser)
c.388A>T (p.Thr130Ser)
c.391A>T (p.Thr131Ser)
n.536A>T
c.337A>T (p.Thr113Ser)
c.484A>T (p.Thr162Ser)
c.415A>T (p.Thr139Ser)
15g.74892743C>ACA393173502MPIc.428C>A (p.Thr143Asn)
c.278C>A (p.Thr93Asn)
c.*324C>A (n.*324C>A)
c.368C>A (p.Thr123Asn)
c.255+1254C>A (n.255+1254C>A)
n.459C>A
c.386C>A (p.Thr129Asn)
c.389C>A (p.Thr130Asn)
c.392C>A (p.Thr131Asn)
n.537C>A
c.338C>A (p.Thr113Asn)
c.485C>A (p.Thr162Asn)
c.416C>A (p.Thr139Asn)
 gnomAD v4
15g.74892743C>GCA393173503MPIc.428C>G (p.Thr143Ser)
c.278C>G (p.Thr93Ser)
c.*324C>G (n.*324C>G)
c.368C>G (p.Thr123Ser)
c.255+1254C>G (n.255+1254C>G)
n.459C>G
c.386C>G (p.Thr129Ser)
c.389C>G (p.Thr130Ser)
c.392C>G (p.Thr131Ser)
n.537C>G
c.338C>G (p.Thr113Ser)
c.485C>G (p.Thr162Ser)
c.416C>G (p.Thr139Ser)
15g.74892743C>TCA393173504MPIc.428C>T (p.Thr143Ile)
c.278C>T (p.Thr93Ile)
c.*324C>T (n.*324C>T)
c.368C>T (p.Thr123Ile)
c.255+1254C>T (n.255+1254C>T)
n.459C>T
c.386C>T (p.Thr129Ile)
c.389C>T (p.Thr130Ile)
c.392C>T (p.Thr131Ile)
n.537C>T
c.338C>T (p.Thr113Ile)
c.485C>T (p.Thr162Ile)
c.416C>T (p.Thr139Ile)
 gnomAD v4
15g.74892747delCA2695197318MPIc.432del (p.Phe145SerfsTer14)
c.282del (p.Phe95SerfsTer14)
c.*328del (n.*328del)
c.372del (p.Phe125SerfsTer14)
c.255+1258del (n.255+1258del)
n.463del
c.390del (p.Phe131SerfsTer14)
c.393del (p.Phe132SerfsTer14)
c.396del (p.Phe133SerfsTer14)
n.541del
c.342del (p.Phe115SerfsTer14)
c.489del (p.Phe164SerfsTer?)
c.420del (p.Phe141SerfsTer14)
 ClinVar
15g.74892744C>ACA491220371MPIc.429C>A (p.Thr143=)
c.279C>A (p.Thr93=)
c.*325C>A (n.*325C>A)
c.369C>A (p.Thr123=)
c.255+1255C>A (n.255+1255C>A)
n.460C>A
c.387C>A (p.Thr129=)
c.390C>A (p.Thr130=)
c.393C>A (p.Thr131=)
n.538C>A
c.339C>A (p.Thr113=)
c.486C>A (p.Thr162=)
c.417C>A (p.Thr139=)
15g.74892744C>GCA491220372MPIc.429C>G (p.Thr143=)
c.279C>G (p.Thr93=)
c.*325C>G (n.*325C>G)
c.369C>G (p.Thr123=)
c.255+1255C>G (n.255+1255C>G)
n.460C>G
c.387C>G (p.Thr129=)
c.390C>G (p.Thr130=)
c.393C>G (p.Thr131=)
n.538C>G
c.339C>G (p.Thr113=)
c.486C>G (p.Thr162=)
c.417C>G (p.Thr139=)
15g.74892744C>TCA491220373MPIc.429C>T (p.Thr143=)
c.279C>T (p.Thr93=)
c.*325C>T (n.*325C>T)
c.369C>T (p.Thr123=)
c.255+1255C>T (n.255+1255C>T)
n.460C>T
c.387C>T (p.Thr129=)
c.390C>T (p.Thr130=)
c.393C>T (p.Thr131=)
n.538C>T
c.339C>T (p.Thr113=)
c.486C>T (p.Thr162=)
c.417C>T (p.Thr139=)
15g.74892745C>ACA393173505MPIc.430C>A (p.Pro144Thr)
c.280C>A (p.Pro94Thr)
c.*326C>A (n.*326C>A)
c.370C>A (p.Pro124Thr)
c.255+1256C>A (n.255+1256C>A)
n.461C>A
c.388C>A (p.Pro130Thr)
c.391C>A (p.Pro131Thr)
c.394C>A (p.Pro132Thr)
n.539C>A
c.340C>A (p.Pro114Thr)
c.487C>A (p.Pro163Thr)
c.418C>A (p.Pro140Thr)
15g.74892745C=CA2187896839MPIc.430C= (p.Pro144=)
c.280C= (p.Pro94=)
c.*326C= (n.*326C=)
c.370C= (p.Pro124=)
c.255+1256C= (n.255+1256C=)
n.461C=
c.388C= (p.Pro130=)
c.391C= (p.Pro131=)
c.394C= (p.Pro132=)
n.539C=
c.340C= (p.Pro114=)
c.487C= (p.Pro163=)
c.418C= (p.Pro140=)
15g.74892745C>GCA393173506MPIc.430C>G (p.Pro144Ala)
c.280C>G (p.Pro94Ala)
c.*326C>G (n.*326C>G)
c.370C>G (p.Pro124Ala)
c.255+1256C>G (n.255+1256C>G)
n.461C>G
c.388C>G (p.Pro130Ala)
c.391C>G (p.Pro131Ala)
c.394C>G (p.Pro132Ala)
n.539C>G
c.340C>G (p.Pro114Ala)
c.487C>G (p.Pro163Ala)
c.418C>G (p.Pro140Ala)
15g.74892745C>TCA7662437MPIc.430C>T (p.Pro144Ser)
c.280C>T (p.Pro94Ser)
c.*326C>T (n.*326C>T)
c.370C>T (p.Pro124Ser)
c.255+1256C>T (n.255+1256C>T)
n.461C>T
c.388C>T (p.Pro130Ser)
c.391C>T (p.Pro131Ser)
c.394C>T (p.Pro132Ser)
n.539C>T
c.340C>T (p.Pro114Ser)
c.487C>T (p.Pro163Ser)
c.418C>T (p.Pro140Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892746C>ACA393173507MPIc.431C>A (p.Pro144His)
c.281C>A (p.Pro94His)
c.*327C>A (n.*327C>A)
c.371C>A (p.Pro124His)
c.255+1257C>A (n.255+1257C>A)
n.462C>A
c.389C>A (p.Pro130His)
c.392C>A (p.Pro131His)
c.395C>A (p.Pro132His)
n.540C>A
c.341C>A (p.Pro114His)
c.488C>A (p.Pro163His)
c.419C>A (p.Pro140His)
 dbSNP gnomAD v2 gnomAD v4
15g.74892746C=CA2187896842MPIc.431C= (p.Pro144=)
c.281C= (p.Pro94=)
c.*327C= (n.*327C=)
c.371C= (p.Pro124=)
c.255+1257C= (n.255+1257C=)
n.462C=
c.389C= (p.Pro130=)
c.392C= (p.Pro131=)
c.395C= (p.Pro132=)
n.540C=
c.341C= (p.Pro114=)
c.488C= (p.Pro163=)
c.419C= (p.Pro140=)
15g.74892746C>GCA393173508MPIc.431C>G (p.Pro144Arg)
c.281C>G (p.Pro94Arg)
c.*327C>G (n.*327C>G)
c.371C>G (p.Pro124Arg)
c.255+1257C>G (n.255+1257C>G)
n.462C>G
c.389C>G (p.Pro130Arg)
c.392C>G (p.Pro131Arg)
c.395C>G (p.Pro132Arg)
n.540C>G
c.341C>G (p.Pro114Arg)
c.488C>G (p.Pro163Arg)
c.419C>G (p.Pro140Arg)
 gnomAD v4
15g.74892746C>TCA272823222MPIc.431C>T (p.Pro144Leu)
c.281C>T (p.Pro94Leu)
c.*327C>T (n.*327C>T)
c.371C>T (p.Pro124Leu)
c.255+1257C>T (n.255+1257C>T)
n.462C>T
c.389C>T (p.Pro130Leu)
c.392C>T (p.Pro131Leu)
c.395C>T (p.Pro132Leu)
n.540C>T
c.341C>T (p.Pro114Leu)
c.488C>T (p.Pro163Leu)
c.419C>T (p.Pro140Leu)
 dbSNP gnomAD v4
15g.74892747C>ACA491220375MPIc.432C>A (p.Pro144=)
c.282C>A (p.Pro94=)
c.*328C>A (n.*328C>A)
c.372C>A (p.Pro124=)
c.255+1258C>A (n.255+1258C>A)
n.463C>A
c.390C>A (p.Pro130=)
c.393C>A (p.Pro131=)
c.396C>A (p.Pro132=)
n.541C>A
c.342C>A (p.Pro114=)
c.489C>A (p.Pro163=)
c.420C>A (p.Pro140=)
 dbSNP gnomAD v4
15g.74892747C=CA2187896846MPIc.432C= (p.Pro144=)
c.282C= (p.Pro94=)
c.*328C= (n.*328C=)
c.372C= (p.Pro124=)
c.255+1258C= (n.255+1258C=)
n.463C=
c.390C= (p.Pro130=)
c.393C= (p.Pro131=)
c.396C= (p.Pro132=)
n.541C=
c.342C= (p.Pro114=)
c.489C= (p.Pro163=)
c.420C= (p.Pro140=)
15g.74892747C>GCA491220374MPIc.432C>G (p.Pro144=)
c.282C>G (p.Pro94=)
c.*328C>G (n.*328C>G)
c.372C>G (p.Pro124=)
c.255+1258C>G (n.255+1258C>G)
n.463C>G
c.390C>G (p.Pro130=)
c.393C>G (p.Pro131=)
c.396C>G (p.Pro132=)
n.541C>G
c.342C>G (p.Pro114=)
c.489C>G (p.Pro163=)
c.420C>G (p.Pro140=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74892747C>TCA7662438MPIc.432C>T (p.Pro144=)
c.282C>T (p.Pro94=)
c.*328C>T (n.*328C>T)
c.372C>T (p.Pro124=)
c.255+1258C>T (n.255+1258C>T)
n.463C>T
c.390C>T (p.Pro130=)
c.393C>T (p.Pro131=)
c.396C>T (p.Pro132=)
n.541C>T
c.342C>T (p.Pro114=)
c.489C>T (p.Pro163=)
c.420C>T (p.Pro140=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
15g.74892748T>ACA393173511MPIc.433T>A (p.Phe145Ile)
c.283T>A (p.Phe95Ile)
c.*329T>A (n.*329T>A)
c.373T>A (p.Phe125Ile)
c.255+1259T>A (n.255+1259T>A)
n.464T>A
c.391T>A (p.Phe131Ile)
c.394T>A (p.Phe132Ile)
c.397T>A (p.Phe133Ile)
n.542T>A
c.343T>A (p.Phe115Ile)
c.490T>A (p.Phe164Ile)
c.421T>A (p.Phe141Ile)
15g.74892748T>CCA393173510MPIc.433T>C (p.Phe145Leu)
c.283T>C (p.Phe95Leu)
c.*329T>C (n.*329T>C)
c.373T>C (p.Phe125Leu)
c.255+1259T>C (n.255+1259T>C)
n.464T>C
c.391T>C (p.Phe131Leu)
c.394T>C (p.Phe132Leu)
c.397T>C (p.Phe133Leu)
n.542T>C
c.343T>C (p.Phe115Leu)
c.490T>C (p.Phe164Leu)
c.421T>C (p.Phe141Leu)
15g.74892748T>GCA393173509MPIc.433T>G (p.Phe145Val)
c.283T>G (p.Phe95Val)
c.*329T>G (n.*329T>G)
c.373T>G (p.Phe125Val)
c.255+1259T>G (n.255+1259T>G)
n.464T>G
c.391T>G (p.Phe131Val)
c.394T>G (p.Phe132Val)
c.397T>G (p.Phe133Val)
n.542T>G
c.343T>G (p.Phe115Val)
c.490T>G (p.Phe164Val)
c.421T>G (p.Phe141Val)
15g.74892749T>ACA393173512MPIc.434T>A (p.Phe145Tyr)
c.284T>A (p.Phe95Tyr)
c.*330T>A (n.*330T>A)
c.374T>A (p.Phe125Tyr)
c.255+1260T>A (n.255+1260T>A)
n.465T>A
c.392T>A (p.Phe131Tyr)
c.395T>A (p.Phe132Tyr)
c.398T>A (p.Phe133Tyr)
n.543T>A
c.344T>A (p.Phe115Tyr)
c.491T>A (p.Phe164Tyr)
c.422T>A (p.Phe141Tyr)
15g.74892749T>CCA393173513MPIc.434T>C (p.Phe145Ser)
c.284T>C (p.Phe95Ser)
c.*330T>C (n.*330T>C)
c.374T>C (p.Phe125Ser)
c.255+1260T>C (n.255+1260T>C)
n.465T>C
c.392T>C (p.Phe131Ser)
c.395T>C (p.Phe132Ser)
c.398T>C (p.Phe133Ser)
n.543T>C
c.344T>C (p.Phe115Ser)
c.491T>C (p.Phe164Ser)
c.422T>C (p.Phe141Ser)
15g.74892749T>GCA393173514MPIc.434T>G (p.Phe145Cys)
c.284T>G (p.Phe95Cys)
c.*330T>G (n.*330T>G)
c.374T>G (p.Phe125Cys)
c.255+1260T>G (n.255+1260T>G)
n.465T>G
c.392T>G (p.Phe131Cys)
c.395T>G (p.Phe132Cys)
c.398T>G (p.Phe133Cys)
n.543T>G
c.344T>G (p.Phe115Cys)
c.491T>G (p.Phe164Cys)
c.422T>G (p.Phe141Cys)
15g.74892750C>ACA393173515MPIc.435C>A (p.Phe145Leu)
c.285C>A (p.Phe95Leu)
c.*331C>A (n.*331C>A)
c.375C>A (p.Phe125Leu)
c.255+1261C>A (n.255+1261C>A)
n.466C>A
c.393C>A (p.Phe131Leu)
c.396C>A (p.Phe132Leu)
c.399C>A (p.Phe133Leu)
n.544C>A
c.345C>A (p.Phe115Leu)
c.492C>A (p.Phe164Leu)
c.423C>A (p.Phe141Leu)
 gnomAD v4
15g.74892750C>GCA393173516MPIc.435C>G (p.Phe145Leu)
c.285C>G (p.Phe95Leu)
c.*331C>G (n.*331C>G)
c.375C>G (p.Phe125Leu)
c.255+1261C>G (n.255+1261C>G)
n.466C>G
c.393C>G (p.Phe131Leu)
c.396C>G (p.Phe132Leu)
c.399C>G (p.Phe133Leu)
n.544C>G
c.345C>G (p.Phe115Leu)
c.492C>G (p.Phe164Leu)
c.423C>G (p.Phe141Leu)
15g.74892750C>TCA491220377MPIc.435C>T (p.Phe145=)
c.285C>T (p.Phe95=)
c.*331C>T (n.*331C>T)
c.375C>T (p.Phe125=)
c.255+1261C>T (n.255+1261C>T)
n.466C>T
c.393C>T (p.Phe131=)
c.396C>T (p.Phe132=)
c.399C>T (p.Phe133=)
n.544C>T
c.345C>T (p.Phe115=)
c.492C>T (p.Phe164=)
c.423C>T (p.Phe141=)
15g.74892751C>ACA393173517MPIc.436C>A (p.Gln146Lys)
c.286C>A (p.Gln96Lys)
c.*332C>A (n.*332C>A)
c.376C>A (p.Gln126Lys)
c.255+1262C>A (n.255+1262C>A)
n.467C>A
c.394C>A (p.Gln132Lys)
c.397C>A (p.Gln133Lys)
c.400C>A (p.Gln134Lys)
n.545C>A
c.346C>A (p.Gln116Lys)
c.493C>A (p.Gln165Lys)
c.424C>A (p.Gln142Lys)
15g.74892751C>GCA393173518MPIc.436C>G (p.Gln146Glu)
c.286C>G (p.Gln96Glu)
c.*332C>G (n.*332C>G)
c.376C>G (p.Gln126Glu)
c.255+1262C>G (n.255+1262C>G)
n.467C>G
c.394C>G (p.Gln132Glu)
c.397C>G (p.Gln133Glu)
c.400C>G (p.Gln134Glu)
n.545C>G
c.346C>G (p.Gln116Glu)
c.493C>G (p.Gln165Glu)
c.424C>G (p.Gln142Glu)
15g.74892751C>TCA393173519MPIc.436C>T (p.Gln146Ter)
c.286C>T (p.Gln96Ter)
c.*332C>T (n.*332C>T)
c.376C>T (p.Gln126Ter)
c.255+1262C>T (n.255+1262C>T)
n.467C>T
c.394C>T (p.Gln132Ter)
c.397C>T (p.Gln133Ter)
c.400C>T (p.Gln134Ter)
n.545C>T
c.346C>T (p.Gln116Ter)
c.493C>T (p.Gln165Ter)
c.424C>T (p.Gln142Ter)
15g.74892752A>CCA393173520MPIc.437A>C (p.Gln146Pro)
c.287A>C (p.Gln96Pro)
c.*333A>C (n.*333A>C)
c.377A>C (p.Gln126Pro)
c.255+1263A>C (n.255+1263A>C)
n.468A>C
c.395A>C (p.Gln132Pro)
c.398A>C (p.Gln133Pro)
c.401A>C (p.Gln134Pro)
n.546A>C
c.347A>C (p.Gln116Pro)
c.494A>C (p.Gln165Pro)
c.425A>C (p.Gln142Pro)
15g.74892752A>GCA393173521MPIc.437A>G (p.Gln146Arg)
c.287A>G (p.Gln96Arg)
c.*333A>G (n.*333A>G)
c.377A>G (p.Gln126Arg)
c.255+1263A>G (n.255+1263A>G)
n.468A>G
c.395A>G (p.Gln132Arg)
c.398A>G (p.Gln133Arg)
c.401A>G (p.Gln134Arg)
n.546A>G
c.347A>G (p.Gln116Arg)
c.494A>G (p.Gln165Arg)
c.425A>G (p.Gln142Arg)
15g.74892752A>TCA393173522MPIc.437A>T (p.Gln146Leu)
c.287A>T (p.Gln96Leu)
c.*333A>T (n.*333A>T)
c.377A>T (p.Gln126Leu)
c.255+1263A>T (n.255+1263A>T)
n.468A>T
c.395A>T (p.Gln132Leu)
c.398A>T (p.Gln133Leu)
c.401A>T (p.Gln134Leu)
n.546A>T
c.347A>T (p.Gln116Leu)
c.494A>T (p.Gln165Leu)
c.425A>T (p.Gln142Leu)
15g.74892753G>ACA491220379MPIc.438G>A (p.Gln146=)
c.288G>A (p.Gln96=)
c.*334G>A (n.*334G>A)
c.378G>A (p.Gln126=)
c.255+1264G>A (n.255+1264G>A)
n.469G>A
c.396G>A (p.Gln132=)
c.399G>A (p.Gln133=)
c.402G>A (p.Gln134=)
n.547G>A
c.348G>A (p.Gln116=)
c.495G>A (p.Gln165=)
c.426G>A (p.Gln142=)
15g.74892753G>CCA393173523MPIc.438G>C (p.Gln146His)
c.288G>C (p.Gln96His)
c.*334G>C (n.*334G>C)
c.378G>C (p.Gln126His)
c.255+1264G>C (n.255+1264G>C)
n.469G>C
c.396G>C (p.Gln132His)
c.399G>C (p.Gln133His)
c.402G>C (p.Gln134His)
n.547G>C
c.348G>C (p.Gln116His)
c.495G>C (p.Gln165His)
c.426G>C (p.Gln142His)
15g.74892753G>TCA393173524MPIc.438G>T (p.Gln146His)
c.288G>T (p.Gln96His)
c.*334G>T (n.*334G>T)
c.378G>T (p.Gln126His)
c.255+1264G>T (n.255+1264G>T)
n.469G>T
c.396G>T (p.Gln132His)
c.399G>T (p.Gln133His)
c.402G>T (p.Gln134His)
n.547G>T
c.348G>T (p.Gln116His)
c.495G>T (p.Gln165His)
c.426G>T (p.Gln142His)
15g.74892754G>ACA393173526MPIc.439G>A (p.Gly147Ser)
c.289G>A (p.Gly97Ser)
c.*335G>A (n.*335G>A)
c.379G>A (p.Gly127Ser)
c.255+1265G>A (n.255+1265G>A)
n.470G>A
c.397G>A (p.Gly133Ser)
c.400G>A (p.Gly134Ser)
c.403G>A (p.Gly135Ser)
n.548G>A
c.349G>A (p.Gly117Ser)
c.496G>A (p.Gly166Ser)
c.427G>A (p.Gly143Ser)
15g.74892754G>CCA393173527MPIc.439G>C (p.Gly147Arg)
c.289G>C (p.Gly97Arg)
c.*335G>C (n.*335G>C)
c.379G>C (p.Gly127Arg)
c.255+1265G>C (n.255+1265G>C)
n.470G>C
c.397G>C (p.Gly133Arg)
c.400G>C (p.Gly134Arg)
c.403G>C (p.Gly135Arg)
n.548G>C
c.349G>C (p.Gly117Arg)
c.496G>C (p.Gly166Arg)
c.427G>C (p.Gly143Arg)
15g.74892754G>TCA393173525MPIc.439G>T (p.Gly147Cys)
c.289G>T (p.Gly97Cys)
c.*335G>T (n.*335G>T)
c.379G>T (p.Gly127Cys)
c.255+1265G>T (n.255+1265G>T)
n.470G>T
c.397G>T (p.Gly133Cys)
c.400G>T (p.Gly134Cys)
c.403G>T (p.Gly135Cys)
n.548G>T
c.349G>T (p.Gly117Cys)
c.496G>T (p.Gly166Cys)
c.427G>T (p.Gly143Cys)
 gnomAD v4
15g.74892755G>ACA393173528MPIc.440G>A (p.Gly147Asp)
c.290G>A (p.Gly97Asp)
c.*336G>A (n.*336G>A)
c.380G>A (p.Gly127Asp)
c.255+1266G>A (n.255+1266G>A)
n.471G>A
c.398G>A (p.Gly133Asp)
c.401G>A (p.Gly134Asp)
c.404G>A (p.Gly135Asp)
n.549G>A
c.350G>A (p.Gly117Asp)
c.497G>A (p.Gly166Asp)
c.428G>A (p.Gly143Asp)
15g.74892755G>CCA393173530MPIc.440G>C (p.Gly147Ala)
c.290G>C (p.Gly97Ala)
c.*336G>C (n.*336G>C)
c.380G>C (p.Gly127Ala)
c.255+1266G>C (n.255+1266G>C)
n.471G>C
c.398G>C (p.Gly133Ala)
c.401G>C (p.Gly134Ala)
c.404G>C (p.Gly135Ala)
n.549G>C
c.350G>C (p.Gly117Ala)
c.497G>C (p.Gly166Ala)
c.428G>C (p.Gly143Ala)
15g.74892755G>TCA393173529MPIc.440G>T (p.Gly147Val)
c.290G>T (p.Gly97Val)
c.*336G>T (n.*336G>T)
c.380G>T (p.Gly127Val)
c.255+1266G>T (n.255+1266G>T)
n.471G>T
c.398G>T (p.Gly133Val)
c.401G>T (p.Gly134Val)
c.404G>T (p.Gly135Val)
n.549G>T
c.350G>T (p.Gly117Val)
c.497G>T (p.Gly166Val)
c.428G>T (p.Gly143Val)
15g.74892756C>ACA491220382MPIc.441C>A (p.Gly147=)
c.291C>A (p.Gly97=)
c.*337C>A (n.*337C>A)
c.381C>A (p.Gly127=)
c.255+1267C>A (n.255+1267C>A)
n.472C>A
c.399C>A (p.Gly133=)
c.402C>A (p.Gly134=)
c.405C>A (p.Gly135=)
n.550C>A
c.351C>A (p.Gly117=)
c.498C>A (p.Gly166=)
c.429C>A (p.Gly143=)
15g.74892756C>GCA491220383MPIc.441C>G (p.Gly147=)
c.291C>G (p.Gly97=)
c.*337C>G (n.*337C>G)
c.381C>G (p.Gly127=)
c.255+1267C>G (n.255+1267C>G)
n.472C>G
c.399C>G (p.Gly133=)
c.402C>G (p.Gly134=)
c.405C>G (p.Gly135=)
n.550C>G
c.351C>G (p.Gly117=)
c.498C>G (p.Gly166=)
c.429C>G (p.Gly143=)
15g.74892756C>TCA491220384MPIc.441C>T (p.Gly147=)
c.291C>T (p.Gly97=)
c.*337C>T (n.*337C>T)
c.381C>T (p.Gly127=)
c.255+1267C>T (n.255+1267C>T)
n.472C>T
c.399C>T (p.Gly133=)
c.402C>T (p.Gly134=)
c.405C>T (p.Gly135=)
n.550C>T
c.351C>T (p.Gly117=)
c.498C>T (p.Gly166=)
c.429C>T (p.Gly143=)
15g.74892757T>ACA393173531MPIc.442T>A (p.Leu148Met)
c.292T>A (p.Leu98Met)
c.*338T>A (n.*338T>A)
c.382T>A (p.Leu128Met)
c.255+1268T>A (n.255+1268T>A)
n.473T>A
c.400T>A (p.Leu134Met)
c.403T>A (p.Leu135Met)
c.406T>A (p.Leu136Met)
n.551T>A
c.352T>A (p.Leu118Met)
c.499T>A (p.Leu167Met)
c.430T>A (p.Leu144Met)
15g.74892757T>CCA491220385MPIc.442T>C (p.Leu148=)
c.292T>C (p.Leu98=)
c.*338T>C (n.*338T>C)
c.382T>C (p.Leu128=)
c.255+1268T>C (n.255+1268T>C)
n.473T>C
c.400T>C (p.Leu134=)
c.403T>C (p.Leu135=)
c.406T>C (p.Leu136=)
n.551T>C
c.352T>C (p.Leu118=)
c.499T>C (p.Leu167=)
c.430T>C (p.Leu144=)
15g.74892757T>GCA393173532MPIc.442T>G (p.Leu148Val)
c.292T>G (p.Leu98Val)
c.*338T>G (n.*338T>G)
c.382T>G (p.Leu128Val)
c.255+1268T>G (n.255+1268T>G)
n.473T>G
c.400T>G (p.Leu134Val)
c.403T>G (p.Leu135Val)
c.406T>G (p.Leu136Val)
n.551T>G
c.352T>G (p.Leu118Val)
c.499T>G (p.Leu167Val)
c.430T>G (p.Leu144Val)
15g.74892758T>ACA393173533MPIc.443T>A (p.Leu148Ter)
c.293T>A (p.Leu98Ter)
c.*339T>A (n.*339T>A)
c.383T>A (p.Leu128Ter)
c.255+1269T>A (n.255+1269T>A)
n.474T>A
c.401T>A (p.Leu134Ter)
c.404T>A (p.Leu135Ter)
c.407T>A (p.Leu136Ter)
n.552T>A
c.353T>A (p.Leu118Ter)
c.500T>A (p.Leu167Ter)
c.431T>A (p.Leu144Ter)
15g.74892758T>CCA393173534MPIc.443T>C (p.Leu148Ser)
c.293T>C (p.Leu98Ser)
c.*339T>C (n.*339T>C)
c.383T>C (p.Leu128Ser)
c.255+1269T>C (n.255+1269T>C)
n.474T>C
c.401T>C (p.Leu134Ser)
c.404T>C (p.Leu135Ser)
c.407T>C (p.Leu136Ser)
n.552T>C
c.353T>C (p.Leu118Ser)
c.500T>C (p.Leu167Ser)
c.431T>C (p.Leu144Ser)
15g.74892758T>GCA393173535MPIc.443T>G (p.Leu148Trp)
c.293T>G (p.Leu98Trp)
c.*339T>G (n.*339T>G)
c.383T>G (p.Leu128Trp)
c.255+1269T>G (n.255+1269T>G)
n.474T>G
c.401T>G (p.Leu134Trp)
c.404T>G (p.Leu135Trp)
c.407T>G (p.Leu136Trp)
n.552T>G
c.353T>G (p.Leu118Trp)
c.500T>G (p.Leu167Trp)
c.431T>G (p.Leu144Trp)
15g.74892759G>ACA491220389MPIc.444G>A (p.Leu148=)
c.294G>A (p.Leu98=)
c.*340G>A (n.*340G>A)
c.384G>A (p.Leu128=)
c.255+1270G>A (n.255+1270G>A)
n.475G>A
c.402G>A (p.Leu134=)
c.405G>A (p.Leu135=)
c.408G>A (p.Leu136=)
n.553G>A
c.354G>A (p.Leu118=)
c.501G>A (p.Leu167=)
c.432G>A (p.Leu144=)
 ClinVar gnomAD v4
15g.74892759G>CCA393173536MPIc.444G>C (p.Leu148Phe)
c.294G>C (p.Leu98Phe)
c.*340G>C (n.*340G>C)
c.384G>C (p.Leu128Phe)
c.255+1270G>C (n.255+1270G>C)
n.475G>C
c.402G>C (p.Leu134Phe)
c.405G>C (p.Leu135Phe)
c.408G>C (p.Leu136Phe)
n.553G>C
c.354G>C (p.Leu118Phe)
c.501G>C (p.Leu167Phe)
c.432G>C (p.Leu144Phe)
15g.74892759G>TCA393173537MPIc.444G>T (p.Leu148Phe)
c.294G>T (p.Leu98Phe)
c.*340G>T (n.*340G>T)
c.384G>T (p.Leu128Phe)
c.255+1270G>T (n.255+1270G>T)
n.475G>T
c.402G>T (p.Leu134Phe)
c.405G>T (p.Leu135Phe)
c.408G>T (p.Leu136Phe)
n.553G>T
c.354G>T (p.Leu118Phe)
c.501G>T (p.Leu167Phe)
c.432G>T (p.Leu144Phe)
 gnomAD v4
15g.74892760T>ACA393173538MPIc.445T>A (p.Cys149Ser)
c.295T>A (p.Cys99Ser)
c.*341T>A (n.*341T>A)
c.385T>A (p.Cys129Ser)
c.255+1271T>A (n.255+1271T>A)
n.476T>A
c.403T>A (p.Cys135Ser)
c.406T>A (p.Cys136Ser)
c.409T>A (p.Cys137Ser)
n.554T>A
c.355T>A (p.Cys119Ser)
c.502T>A (p.Cys168Ser)
c.433T>A (p.Cys145Ser)
 gnomAD v4
15g.74892760T>CCA393173539MPIc.445T>C (p.Cys149Arg)
c.295T>C (p.Cys99Arg)
c.*341T>C (n.*341T>C)
c.385T>C (p.Cys129Arg)
c.255+1271T>C (n.255+1271T>C)
n.476T>C
c.403T>C (p.Cys135Arg)
c.406T>C (p.Cys136Arg)
c.409T>C (p.Cys137Arg)
n.554T>C
c.355T>C (p.Cys119Arg)
c.502T>C (p.Cys168Arg)
c.433T>C (p.Cys145Arg)
 ClinVar dbSNP
15g.74892760T>GCA393173540MPIc.445T>G (p.Cys149Gly)
c.295T>G (p.Cys99Gly)
c.*341T>G (n.*341T>G)
c.385T>G (p.Cys129Gly)
c.255+1271T>G (n.255+1271T>G)
n.476T>G
c.403T>G (p.Cys135Gly)
c.406T>G (p.Cys136Gly)
c.409T>G (p.Cys137Gly)
n.554T>G
c.355T>G (p.Cys119Gly)
c.502T>G (p.Cys168Gly)
c.433T>G (p.Cys145Gly)
15g.74892760T=CA2187896848MPIc.445T= (p.Cys149=)
c.295T= (p.Cys99=)
c.*341T= (n.*341T=)
c.385T= (p.Cys129=)
c.255+1271T= (n.255+1271T=)
n.476T=
c.403T= (p.Cys135=)
c.406T= (p.Cys136=)
c.409T= (p.Cys137=)
n.554T=
c.355T= (p.Cys119=)
c.502T= (p.Cys168=)
c.433T= (p.Cys145=)
15g.74892761G>ACA393173549MPIc.446G>A (p.Cys149Tyr)
c.296G>A (p.Cys99Tyr)
c.*342G>A (n.*342G>A)
c.386G>A (p.Cys129Tyr)
c.255+1272G>A (n.255+1272G>A)
n.477G>A
c.404G>A (p.Cys135Tyr)
c.407G>A (p.Cys136Tyr)
c.410G>A (p.Cys137Tyr)
n.555G>A
c.356G>A (p.Cys119Tyr)
c.503G>A (p.Cys168Tyr)
c.434G>A (p.Cys145Tyr)
 gnomAD v4
15g.74892761G>CCA393173547MPIc.446G>C (p.Cys149Ser)
c.296G>C (p.Cys99Ser)
c.*342G>C (n.*342G>C)
c.386G>C (p.Cys129Ser)
c.255+1272G>C (n.255+1272G>C)
n.477G>C
c.404G>C (p.Cys135Ser)
c.407G>C (p.Cys136Ser)
c.410G>C (p.Cys137Ser)
n.555G>C
c.356G>C (p.Cys119Ser)
c.503G>C (p.Cys168Ser)
c.434G>C (p.Cys145Ser)
15g.74892761G>TCA393173545MPIc.446G>T (p.Cys149Phe)
c.296G>T (p.Cys99Phe)
c.*342G>T (n.*342G>T)
c.386G>T (p.Cys129Phe)
c.255+1272G>T (n.255+1272G>T)
n.477G>T
c.404G>T (p.Cys135Phe)
c.407G>T (p.Cys136Phe)
c.410G>T (p.Cys137Phe)
n.555G>T
c.356G>T (p.Cys119Phe)
c.503G>T (p.Cys168Phe)
c.434G>T (p.Cys145Phe)
15g.74892762T>ACA393173551MPIc.447T>A (p.Cys149Ter)
c.297T>A (p.Cys99Ter)
c.*343T>A (n.*343T>A)
c.387T>A (p.Cys129Ter)
c.255+1273T>A (n.255+1273T>A)
n.478T>A
c.405T>A (p.Cys135Ter)
c.408T>A (p.Cys136Ter)
c.411T>A (p.Cys137Ter)
n.556T>A
c.357T>A (p.Cys119Ter)
c.504T>A (p.Cys168Ter)
c.435T>A (p.Cys145Ter)
15g.74892762T>CCA491220390MPIc.447T>C (p.Cys149=)
c.297T>C (p.Cys99=)
c.*343T>C (n.*343T>C)
c.387T>C (p.Cys129=)
c.255+1273T>C (n.255+1273T>C)
n.478T>C
c.405T>C (p.Cys135=)
c.408T>C (p.Cys136=)
c.411T>C (p.Cys137=)
n.556T>C
c.357T>C (p.Cys119=)
c.504T>C (p.Cys168=)
c.435T>C (p.Cys145=)
15g.74892762T>GCA393173553MPIc.447T>G (p.Cys149Trp)
c.297T>G (p.Cys99Trp)
c.*343T>G (n.*343T>G)
c.387T>G (p.Cys129Trp)
c.255+1273T>G (n.255+1273T>G)
n.478T>G
c.405T>G (p.Cys135Trp)
c.408T>G (p.Cys136Trp)
c.411T>G (p.Cys137Trp)
n.556T>G
c.357T>G (p.Cys119Trp)
c.504T>G (p.Cys168Trp)
c.435T>G (p.Cys145Trp)
15g.74892763G>ACA393173556MPIc.448G>A (p.Gly150Ser)
c.298G>A (p.Gly100Ser)
c.*344G>A (n.*344G>A)
c.388G>A (p.Gly130Ser)
c.255+1274G>A (n.255+1274G>A)
n.479G>A
c.406G>A (p.Gly136Ser)
c.409G>A (p.Gly137Ser)
c.412G>A (p.Gly138Ser)
n.557G>A
c.358G>A (p.Gly120Ser)
c.505G>A (p.Gly169Ser)
c.436G>A (p.Gly146Ser)
 COSMIC
15g.74892763G>CCA393173557MPIc.448G>C (p.Gly150Arg)
c.298G>C (p.Gly100Arg)
c.*344G>C (n.*344G>C)
c.388G>C (p.Gly130Arg)
c.255+1274G>C (n.255+1274G>C)
n.479G>C
c.406G>C (p.Gly136Arg)
c.409G>C (p.Gly137Arg)
c.412G>C (p.Gly138Arg)
n.557G>C
c.358G>C (p.Gly120Arg)
c.505G>C (p.Gly169Arg)
c.436G>C (p.Gly146Arg)
15g.74892763G>TCA393173560MPIc.448G>T (p.Gly150Cys)
c.298G>T (p.Gly100Cys)
c.*344G>T (n.*344G>T)
c.388G>T (p.Gly130Cys)
c.255+1274G>T (n.255+1274G>T)
n.479G>T
c.406G>T (p.Gly136Cys)
c.409G>T (p.Gly137Cys)
c.412G>T (p.Gly138Cys)
n.557G>T
c.358G>T (p.Gly120Cys)
c.505G>T (p.Gly169Cys)
c.436G>T (p.Gly146Cys)
15g.74892764G>ACA393173564MPIc.449G>A (p.Gly150Asp)
c.299G>A (p.Gly100Asp)
c.*345G>A (n.*345G>A)
c.389G>A (p.Gly130Asp)
c.255+1275G>A (n.255+1275G>A)
n.480G>A
c.407G>A (p.Gly136Asp)
c.410G>A (p.Gly137Asp)
c.413G>A (p.Gly138Asp)
n.558G>A
c.359G>A (p.Gly120Asp)
c.506G>A (p.Gly169Asp)
c.437G>A (p.Gly146Asp)
 gnomAD v4
15g.74892764G>CCA393173566MPIc.449G>C (p.Gly150Ala)
c.299G>C (p.Gly100Ala)
c.*345G>C (n.*345G>C)
c.389G>C (p.Gly130Ala)
c.255+1275G>C (n.255+1275G>C)
n.480G>C
c.407G>C (p.Gly136Ala)
c.410G>C (p.Gly137Ala)
c.413G>C (p.Gly138Ala)
n.558G>C
c.359G>C (p.Gly120Ala)
c.506G>C (p.Gly169Ala)
c.437G>C (p.Gly146Ala)
15g.74892764G>TCA393173569MPIc.449G>T (p.Gly150Val)
c.299G>T (p.Gly100Val)
c.*345G>T (n.*345G>T)
c.389G>T (p.Gly130Val)
c.255+1275G>T (n.255+1275G>T)
n.480G>T
c.407G>T (p.Gly136Val)
c.410G>T (p.Gly137Val)
c.413G>T (p.Gly138Val)
n.558G>T
c.359G>T (p.Gly120Val)
c.506G>T (p.Gly169Val)
c.437G>T (p.Gly146Val)
15g.74892765C>ACA491220391MPIc.450C>A (p.Gly150=)
c.300C>A (p.Gly100=)
c.*346C>A (n.*346C>A)
c.390C>A (p.Gly130=)
c.255+1276C>A (n.255+1276C>A)
n.481C>A
c.408C>A (p.Gly136=)
c.411C>A (p.Gly137=)
c.414C>A (p.Gly138=)
n.559C>A
c.360C>A (p.Gly120=)
c.507C>A (p.Gly169=)
c.438C>A (p.Gly146=)
15g.74892765C>GCA491220392MPIc.450C>G (p.Gly150=)
c.300C>G (p.Gly100=)
c.*346C>G (n.*346C>G)
c.390C>G (p.Gly130=)
c.255+1276C>G (n.255+1276C>G)
n.481C>G
c.408C>G (p.Gly136=)
c.411C>G (p.Gly137=)
c.414C>G (p.Gly138=)
n.559C>G
c.360C>G (p.Gly120=)
c.507C>G (p.Gly169=)
c.438C>G (p.Gly146=)
15g.74892765C>TCA491220393MPIc.450C>T (p.Gly150=)
c.300C>T (p.Gly100=)
c.*346C>T (n.*346C>T)
c.390C>T (p.Gly130=)
c.255+1276C>T (n.255+1276C>T)
n.481C>T
c.408C>T (p.Gly136=)
c.411C>T (p.Gly137=)
c.414C>T (p.Gly138=)
n.559C>T
c.360C>T (p.Gly120=)
c.507C>T (p.Gly169=)
c.438C>T (p.Gly146=)
 gnomAD v4
15g.74892766T>ACA393173571MPIc.451T>A (p.Phe151Ile)
c.301T>A (p.Phe101Ile)
c.*347T>A (n.*347T>A)
c.391T>A (p.Phe131Ile)
c.255+1277T>A (n.255+1277T>A)
n.482T>A
c.409T>A (p.Phe137Ile)
c.412T>A (p.Phe138Ile)
c.415T>A (p.Phe139Ile)
n.560T>A
c.361T>A (p.Phe121Ile)
c.508T>A (p.Phe170Ile)
c.439T>A (p.Phe147Ile)
15g.74892766T>CCA393173574MPIc.451T>C (p.Phe151Leu)
c.301T>C (p.Phe101Leu)
c.*347T>C (n.*347T>C)
c.391T>C (p.Phe131Leu)
c.255+1277T>C (n.255+1277T>C)
n.482T>C
c.409T>C (p.Phe137Leu)
c.412T>C (p.Phe138Leu)
c.415T>C (p.Phe139Leu)
n.560T>C
c.361T>C (p.Phe121Leu)
c.508T>C (p.Phe170Leu)
c.439T>C (p.Phe147Leu)
15g.74892766T>GCA393173577MPIc.451T>G (p.Phe151Val)
c.301T>G (p.Phe101Val)
c.*347T>G (n.*347T>G)
c.391T>G (p.Phe131Val)
c.255+1277T>G (n.255+1277T>G)
n.482T>G
c.409T>G (p.Phe137Val)
c.412T>G (p.Phe138Val)
c.415T>G (p.Phe139Val)
n.560T>G
c.361T>G (p.Phe121Val)
c.508T>G (p.Phe170Val)
c.439T>G (p.Phe147Val)
15g.74892767T>ACA393173583MPIc.452T>A (p.Phe151Tyr)
c.302T>A (p.Phe101Tyr)
c.*348T>A (n.*348T>A)
c.392T>A (p.Phe131Tyr)
c.255+1278T>A (n.255+1278T>A)
n.483T>A
c.410T>A (p.Phe137Tyr)
c.413T>A (p.Phe138Tyr)
c.416T>A (p.Phe139Tyr)
n.561T>A
c.362T>A (p.Phe121Tyr)
c.509T>A (p.Phe170Tyr)
c.440T>A (p.Phe147Tyr)
15g.74892767T>CCA393173585MPIc.452T>C (p.Phe151Ser)
c.302T>C (p.Phe101Ser)
c.*348T>C (n.*348T>C)
c.392T>C (p.Phe131Ser)
c.255+1278T>C (n.255+1278T>C)
n.483T>C
c.410T>C (p.Phe137Ser)
c.413T>C (p.Phe138Ser)
c.416T>C (p.Phe139Ser)
n.561T>C
c.362T>C (p.Phe121Ser)
c.509T>C (p.Phe170Ser)
c.440T>C (p.Phe147Ser)
15g.74892767T>GCA393173580MPIc.452T>G (p.Phe151Cys)
c.302T>G (p.Phe101Cys)
c.*348T>G (n.*348T>G)
c.392T>G (p.Phe131Cys)
c.255+1278T>G (n.255+1278T>G)
n.483T>G
c.410T>G (p.Phe137Cys)
c.413T>G (p.Phe138Cys)
c.416T>G (p.Phe139Cys)
n.561T>G
c.362T>G (p.Phe121Cys)
c.509T>G (p.Phe170Cys)
c.440T>G (p.Phe147Cys)
15g.74892768C>ACA393173588MPIc.453C>A (p.Phe151Leu)
c.303C>A (p.Phe101Leu)
c.*349C>A (n.*349C>A)
c.393C>A (p.Phe131Leu)
c.255+1279C>A (n.255+1279C>A)
n.484C>A
c.411C>A (p.Phe137Leu)
c.414C>A (p.Phe138Leu)
c.417C>A (p.Phe139Leu)
n.562C>A
c.363C>A (p.Phe121Leu)
c.510C>A (p.Phe170Leu)
c.441C>A (p.Phe147Leu)
15g.74892768C=CA2187896850MPIc.453C= (p.Phe151=)
c.303C= (p.Phe101=)
c.*349C= (n.*349C=)
c.393C= (p.Phe131=)
c.255+1279C= (n.255+1279C=)
n.484C=
c.411C= (p.Phe137=)
c.414C= (p.Phe138=)
c.417C= (p.Phe139=)
n.562C=
c.363C= (p.Phe121=)
c.510C= (p.Phe170=)
c.441C= (p.Phe147=)
15g.74892768C>GCA393173591MPIc.453C>G (p.Phe151Leu)
c.303C>G (p.Phe101Leu)
c.*349C>G (n.*349C>G)
c.393C>G (p.Phe131Leu)
c.255+1279C>G (n.255+1279C>G)
n.484C>G
c.411C>G (p.Phe137Leu)
c.414C>G (p.Phe138Leu)
c.417C>G (p.Phe139Leu)
n.562C>G
c.363C>G (p.Phe121Leu)
c.510C>G (p.Phe170Leu)
c.441C>G (p.Phe147Leu)
15g.74892768C>TCA491220396MPIc.453C>T (p.Phe151=)
c.303C>T (p.Phe101=)
c.*349C>T (n.*349C>T)
c.393C>T (p.Phe131=)
c.255+1279C>T (n.255+1279C>T)
n.484C>T
c.411C>T (p.Phe137=)
c.414C>T (p.Phe138=)
c.417C>T (p.Phe139=)
n.562C>T
c.363C>T (p.Phe121=)
c.510C>T (p.Phe170=)
c.441C>T (p.Phe147=)
 dbSNP gnomAD v3 gnomAD v4
15g.74892769C>ACA491220397MPIc.454C>A (p.Arg152=)
c.304C>A (p.Arg102=)
c.*350C>A (n.*350C>A)
c.394C>A (p.Arg132=)
c.255+1280C>A (n.255+1280C>A)
n.485C>A
c.412C>A (p.Arg138=)
c.415C>A (p.Arg139=)
c.418C>A (p.Arg140=)
n.563C>A
c.364C>A (p.Arg122=)
c.511C>A (p.Arg171=)
c.442C>A (p.Arg148=)
 gnomAD v4
15g.74892769C=CA2187896852MPIc.454C= (p.Arg152=)
c.304C= (p.Arg102=)
c.*350C= (n.*350C=)
c.394C= (p.Arg132=)
c.255+1280C= (n.255+1280C=)
n.485C=
c.412C= (p.Arg138=)
c.415C= (p.Arg139=)
c.418C= (p.Arg140=)
n.563C=
c.364C= (p.Arg122=)
c.511C= (p.Arg171=)
c.442C= (p.Arg148=)
15g.74892769C>GCA393173595MPIc.454C>G (p.Arg152Gly)
c.304C>G (p.Arg102Gly)
c.*350C>G (n.*350C>G)
c.394C>G (p.Arg132Gly)
c.255+1280C>G (n.255+1280C>G)
n.485C>G
c.412C>G (p.Arg138Gly)
c.415C>G (p.Arg139Gly)
c.418C>G (p.Arg140Gly)
n.563C>G
c.364C>G (p.Arg122Gly)
c.511C>G (p.Arg171Gly)
c.442C>G (p.Arg148Gly)
15g.74892769C>TCA7662439MPIc.454C>T (p.Arg152Trp)
c.304C>T (p.Arg102Trp)
c.*350C>T (n.*350C>T)
c.394C>T (p.Arg132Trp)
c.255+1280C>T (n.255+1280C>T)
n.485C>T
c.412C>T (p.Arg138Trp)
c.415C>T (p.Arg139Trp)
c.418C>T (p.Arg140Trp)
n.563C>T
c.364C>T (p.Arg122Trp)
c.511C>T (p.Arg171Trp)
c.442C>T (p.Arg148Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892770G>ACA7662441MPIc.455G>A (p.Arg152Gln)
c.305G>A (p.Arg102Gln)
c.*351G>A (n.*351G>A)
c.395G>A (p.Arg132Gln)
c.255+1281G>A (n.255+1281G>A)
n.486G>A
c.413G>A (p.Arg138Gln)
c.416G>A (p.Arg139Gln)
c.419G>A (p.Arg140Gln)
n.564G>A
c.365G>A (p.Arg122Gln)
c.512G>A (p.Arg171Gln)
c.443G>A (p.Arg148Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892770G>CCA393173601MPIc.455G>C (p.Arg152Pro)
c.305G>C (p.Arg102Pro)
c.*351G>C (n.*351G>C)
c.395G>C (p.Arg132Pro)
c.255+1281G>C (n.255+1281G>C)
n.486G>C
c.413G>C (p.Arg138Pro)
c.416G>C (p.Arg139Pro)
c.419G>C (p.Arg140Pro)
n.564G>C
c.365G>C (p.Arg122Pro)
c.512G>C (p.Arg171Pro)
c.443G>C (p.Arg148Pro)
 ClinVar dbSNP gnomAD v4
15g.74892770G=CA2187896855MPIc.455G= (p.Arg152=)
c.305G= (p.Arg102=)
c.*351G= (n.*351G=)
c.395G= (p.Arg132=)
c.255+1281G= (n.255+1281G=)
n.486G=
c.413G= (p.Arg138=)
c.416G= (p.Arg139=)
c.419G= (p.Arg140=)
n.564G=
c.365G= (p.Arg122=)
c.512G= (p.Arg171=)
c.443G= (p.Arg148=)
15g.74892770G>TCA7662440MPIc.455G>T (p.Arg152Leu)
c.305G>T (p.Arg102Leu)
c.*351G>T (n.*351G>T)
c.395G>T (p.Arg132Leu)
c.255+1281G>T (n.255+1281G>T)
n.486G>T
c.413G>T (p.Arg138Leu)
c.416G>T (p.Arg139Leu)
c.419G>T (p.Arg140Leu)
n.564G>T
c.365G>T (p.Arg122Leu)
c.512G>T (p.Arg171Leu)
c.443G>T (p.Arg148Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892771G>ACA491220398MPIc.456G>A (p.Arg152=)
c.306G>A (p.Arg102=)
c.*352G>A (n.*352G>A)
c.396G>A (p.Arg132=)
c.255+1282G>A (n.255+1282G>A)
n.487G>A
c.414G>A (p.Arg138=)
c.417G>A (p.Arg139=)
c.420G>A (p.Arg140=)
n.565G>A
c.366G>A (p.Arg122=)
c.513G>A (p.Arg171=)
c.444G>A (p.Arg148=)
15g.74892771G>CCA491220399MPIc.456G>C (p.Arg152=)
c.306G>C (p.Arg102=)
c.*352G>C (n.*352G>C)
c.396G>C (p.Arg132=)
c.255+1282G>C (n.255+1282G>C)
n.487G>C
c.414G>C (p.Arg138=)
c.417G>C (p.Arg139=)
c.420G>C (p.Arg140=)
n.565G>C
c.366G>C (p.Arg122=)
c.513G>C (p.Arg171=)
c.444G>C (p.Arg148=)
15g.74892771G>TCA491220400MPIc.456G>T (p.Arg152=)
c.306G>T (p.Arg102=)
c.*352G>T (n.*352G>T)
c.396G>T (p.Arg132=)
c.255+1282G>T (n.255+1282G>T)
n.487G>T
c.414G>T (p.Arg138=)
c.417G>T (p.Arg139=)
c.420G>T (p.Arg140=)
n.565G>T
c.366G>T (p.Arg122=)
c.513G>T (p.Arg171=)
c.444G>T (p.Arg148=)
15g.74892772C>ACA393173606MPIc.457C>A (p.Pro153Thr)
c.307C>A (p.Pro103Thr)
c.*353C>A (n.*353C>A)
c.397C>A (p.Pro133Thr)
c.255+1283C>A (n.255+1283C>A)
n.488C>A
c.415C>A (p.Pro139Thr)
c.418C>A (p.Pro140Thr)
c.421C>A (p.Pro141Thr)
n.566C>A
c.367C>A (p.Pro123Thr)
c.514C>A (p.Pro172Thr)
c.445C>A (p.Pro149Thr)
15g.74892772C>GCA393173611MPIc.457C>G (p.Pro153Ala)
c.307C>G (p.Pro103Ala)
c.*353C>G (n.*353C>G)
c.397C>G (p.Pro133Ala)
c.255+1283C>G (n.255+1283C>G)
n.488C>G
c.415C>G (p.Pro139Ala)
c.418C>G (p.Pro140Ala)
c.421C>G (p.Pro141Ala)
n.566C>G
c.367C>G (p.Pro123Ala)
c.514C>G (p.Pro172Ala)
c.445C>G (p.Pro149Ala)
15g.74892772C>TCA393173609MPIc.457C>T (p.Pro153Ser)
c.307C>T (p.Pro103Ser)
c.*353C>T (n.*353C>T)
c.397C>T (p.Pro133Ser)
c.255+1283C>T (n.255+1283C>T)
n.488C>T
c.415C>T (p.Pro139Ser)
c.418C>T (p.Pro140Ser)
c.421C>T (p.Pro141Ser)
n.566C>T
c.367C>T (p.Pro123Ser)
c.514C>T (p.Pro172Ser)
c.445C>T (p.Pro149Ser)
15g.74892773C>ACA393173615MPIc.458C>A (p.Pro153Gln)
c.308C>A (p.Pro103Gln)
c.*354C>A (n.*354C>A)
c.398C>A (p.Pro133Gln)
c.255+1284C>A (n.255+1284C>A)
n.489C>A
c.416C>A (p.Pro139Gln)
c.419C>A (p.Pro140Gln)
c.422C>A (p.Pro141Gln)
n.567C>A
c.368C>A (p.Pro123Gln)
c.515C>A (p.Pro172Gln)
c.446C>A (p.Pro149Gln)
15g.74892773C>GCA393173618MPIc.458C>G (p.Pro153Arg)
c.308C>G (p.Pro103Arg)
c.*354C>G (n.*354C>G)
c.398C>G (p.Pro133Arg)
c.255+1284C>G (n.255+1284C>G)
n.489C>G
c.416C>G (p.Pro139Arg)
c.419C>G (p.Pro140Arg)
c.422C>G (p.Pro141Arg)
n.567C>G
c.368C>G (p.Pro123Arg)
c.515C>G (p.Pro172Arg)
c.446C>G (p.Pro149Arg)
15g.74892773C>TCA393173621MPIc.458C>T (p.Pro153Leu)
c.308C>T (p.Pro103Leu)
c.*354C>T (n.*354C>T)
c.398C>T (p.Pro133Leu)
c.255+1284C>T (n.255+1284C>T)
n.489C>T
c.416C>T (p.Pro139Leu)
c.419C>T (p.Pro140Leu)
c.422C>T (p.Pro141Leu)
n.567C>T
c.368C>T (p.Pro123Leu)
c.515C>T (p.Pro172Leu)
c.446C>T (p.Pro149Leu)
15g.74892774A=CA2187896858MPIc.459A= (p.Pro153=)
c.309A= (p.Pro103=)
c.*355A= (n.*355A=)
c.399A= (p.Pro133=)
c.255+1285A= (n.255+1285A=)
n.490A=
c.417A= (p.Pro139=)
c.420A= (p.Pro140=)
c.423A= (p.Pro141=)
n.568A=
c.369A= (p.Pro123=)
c.516A= (p.Pro172=)
c.447A= (p.Pro149=)
15g.74892774A>CCA491220404MPIc.459A>C (p.Pro153=)
c.309A>C (p.Pro103=)
c.*355A>C (n.*355A>C)
c.399A>C (p.Pro133=)
c.255+1285A>C (n.255+1285A>C)
n.490A>C
c.417A>C (p.Pro139=)
c.420A>C (p.Pro140=)
c.423A>C (p.Pro141=)
n.568A>C
c.369A>C (p.Pro123=)
c.516A>C (p.Pro172=)
c.447A>C (p.Pro149=)
 dbSNP
15g.74892774A>GCA272823235MPIc.459A>G (p.Pro153=)
c.309A>G (p.Pro103=)
c.*355A>G (n.*355A>G)
c.399A>G (p.Pro133=)
c.255+1285A>G (n.255+1285A>G)
n.490A>G
c.417A>G (p.Pro139=)
c.420A>G (p.Pro140=)
c.423A>G (p.Pro141=)
n.568A>G
c.369A>G (p.Pro123=)
c.516A>G (p.Pro172=)
c.447A>G (p.Pro149=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74892774A>TCA491220405MPIc.459A>T (p.Pro153=)
c.309A>T (p.Pro103=)
c.*355A>T (n.*355A>T)
c.399A>T (p.Pro133=)
c.255+1285A>T (n.255+1285A>T)
n.490A>T
c.417A>T (p.Pro139=)
c.420A>T (p.Pro140=)
c.423A>T (p.Pro141=)
n.568A>T
c.369A>T (p.Pro123=)
c.516A>T (p.Pro172=)
c.447A>T (p.Pro149=)
15g.74892775G>ACA393173627MPIc.460G>A (p.Val154Ile)
c.310G>A (p.Val104Ile)
c.*356G>A (n.*356G>A)
c.400G>A (p.Val134Ile)
c.255+1286G>A (n.255+1286G>A)
n.491G>A
c.418G>A (p.Val140Ile)
c.421G>A (p.Val141Ile)
c.424G>A (p.Val142Ile)
n.569G>A
c.370G>A (p.Val124Ile)
c.517G>A (p.Val173Ile)
c.448G>A (p.Val150Ile)
15g.74892775G>CCA393173640MPIc.460G>C (p.Val154Leu)
c.310G>C (p.Val104Leu)
c.*356G>C (n.*356G>C)
c.400G>C (p.Val134Leu)
c.255+1286G>C (n.255+1286G>C)
n.491G>C
c.418G>C (p.Val140Leu)
c.421G>C (p.Val141Leu)
c.424G>C (p.Val142Leu)
n.569G>C
c.370G>C (p.Val124Leu)
c.517G>C (p.Val173Leu)
c.448G>C (p.Val150Leu)
15g.74892775G>TCA393173629MPIc.460G>T (p.Val154Phe)
c.310G>T (p.Val104Phe)
c.*356G>T (n.*356G>T)
c.400G>T (p.Val134Phe)
c.255+1286G>T (n.255+1286G>T)
n.491G>T
c.418G>T (p.Val140Phe)
c.421G>T (p.Val141Phe)
c.424G>T (p.Val142Phe)
n.569G>T
c.370G>T (p.Val124Phe)
c.517G>T (p.Val173Phe)
c.448G>T (p.Val150Phe)
 gnomAD v4
15g.74892776T>ACA393173643MPIc.461T>A (p.Val154Asp)
c.311T>A (p.Val104Asp)
c.*357T>A (n.*357T>A)
c.401T>A (p.Val134Asp)
c.255+1287T>A (n.255+1287T>A)
n.492T>A
c.419T>A (p.Val140Asp)
c.422T>A (p.Val141Asp)
c.425T>A (p.Val142Asp)
n.570T>A
c.371T>A (p.Val124Asp)
c.518T>A (p.Val173Asp)
c.449T>A (p.Val150Asp)
15g.74892776T>CCA393173654MPIc.461T>C (p.Val154Ala)
c.311T>C (p.Val104Ala)
c.*357T>C (n.*357T>C)
c.401T>C (p.Val134Ala)
c.255+1287T>C (n.255+1287T>C)
n.492T>C
c.419T>C (p.Val140Ala)
c.422T>C (p.Val141Ala)
c.425T>C (p.Val142Ala)
n.570T>C
c.371T>C (p.Val124Ala)
c.518T>C (p.Val173Ala)
c.449T>C (p.Val150Ala)
 gnomAD v4
15g.74892776T>GCA393173657MPIc.461T>G (p.Val154Gly)
c.311T>G (p.Val104Gly)
c.*357T>G (n.*357T>G)
c.401T>G (p.Val134Gly)
c.255+1287T>G (n.255+1287T>G)
n.492T>G
c.419T>G (p.Val140Gly)
c.422T>G (p.Val141Gly)
c.425T>G (p.Val142Gly)
n.570T>G
c.371T>G (p.Val124Gly)
c.518T>G (p.Val173Gly)
c.449T>G (p.Val150Gly)
15g.74892777T>ACA491220407MPIc.462T>A (p.Val154=)
c.312T>A (p.Val104=)
c.*358T>A (n.*358T>A)
c.402T>A (p.Val134=)
c.255+1288T>A (n.255+1288T>A)
n.493T>A
c.420T>A (p.Val140=)
c.423T>A (p.Val141=)
c.426T>A (p.Val142=)
n.571T>A
c.372T>A (p.Val124=)
c.519T>A (p.Val173=)
c.450T>A (p.Val150=)
15g.74892777T>CCA491220408MPIc.462T>C (p.Val154=)
c.312T>C (p.Val104=)
c.*358T>C (n.*358T>C)
c.402T>C (p.Val134=)
c.255+1288T>C (n.255+1288T>C)
n.493T>C
c.420T>C (p.Val140=)
c.423T>C (p.Val141=)
c.426T>C (p.Val142=)
n.571T>C
c.372T>C (p.Val124=)
c.519T>C (p.Val173=)
c.450T>C (p.Val150=)
15g.74892777T>GCA491220409MPIc.462T>G (p.Val154=)
c.312T>G (p.Val104=)
c.*358T>G (n.*358T>G)
c.402T>G (p.Val134=)
c.255+1288T>G (n.255+1288T>G)
n.493T>G
c.420T>G (p.Val140=)
c.423T>G (p.Val141=)
c.426T>G (p.Val142=)
n.571T>G
c.372T>G (p.Val124=)
c.519T>G (p.Val173=)
c.450T>G (p.Val150=)
15g.74892778G>ACA393173660MPIc.463G>A (p.Glu155Lys)
c.313G>A (p.Glu105Lys)
c.*359G>A (n.*359G>A)
c.403G>A (p.Glu135Lys)
c.255+1289G>A (n.255+1289G>A)
n.494G>A
c.421G>A (p.Glu141Lys)
c.424G>A (p.Glu142Lys)
c.427G>A (p.Glu143Lys)
n.572G>A
c.373G>A (p.Glu125Lys)
c.520G>A (p.Glu174Lys)
c.451G>A (p.Glu151Lys)
 dbSNP gnomAD v3 gnomAD v4
15g.74892778G>CCA7662442MPIc.463G>C (p.Glu155Gln)
c.313G>C (p.Glu105Gln)
c.*359G>C (n.*359G>C)
c.403G>C (p.Glu135Gln)
c.255+1289G>C (n.255+1289G>C)
n.494G>C
c.421G>C (p.Glu141Gln)
c.424G>C (p.Glu142Gln)
c.427G>C (p.Glu143Gln)
n.572G>C
c.373G>C (p.Glu125Gln)
c.520G>C (p.Glu174Gln)
c.451G>C (p.Glu151Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892778G=CA2187896860MPIc.463G= (p.Glu155=)
c.313G= (p.Glu105=)
c.*359G= (n.*359G=)
c.403G= (p.Glu135=)
c.255+1289G= (n.255+1289G=)
n.494G=
c.421G= (p.Glu141=)
c.424G= (p.Glu142=)
c.427G= (p.Glu143=)
n.572G=
c.373G= (p.Glu125=)
c.520G= (p.Glu174=)
c.451G= (p.Glu151=)
15g.74892778G>TCA393173663MPIc.463G>T (p.Glu155Ter)
c.313G>T (p.Glu105Ter)
c.*359G>T (n.*359G>T)
c.403G>T (p.Glu135Ter)
c.255+1289G>T (n.255+1289G>T)
n.494G>T
c.421G>T (p.Glu141Ter)
c.424G>T (p.Glu142Ter)
c.427G>T (p.Glu143Ter)
n.572G>T
c.373G>T (p.Glu125Ter)
c.520G>T (p.Glu174Ter)
c.451G>T (p.Glu151Ter)
15g.74892781_74892783delCA645589738MPIc.466_468del (p.Glu156del)
c.316_318del (p.Glu106del)
c.*362_*364del (n.*362_*364del)
c.406_408del (p.Glu136del)
c.255+1292_255+1294del (n.255+1292_255+1294del)
n.497_499del
c.424_426del (p.Glu142del)
c.427_429del (p.Glu143del)
c.430_432del (p.Glu144del)
n.575_577del
c.376_378del (p.Glu126del)
c.454_456del (p.Glu152del)
 gnomAD v4 COSMIC
15g.74892779A>CCA393173664MPIc.464A>C (p.Glu155Ala)
c.314A>C (p.Glu105Ala)
c.*360A>C (n.*360A>C)
c.404A>C (p.Glu135Ala)
c.255+1290A>C (n.255+1290A>C)
n.495A>C
c.422A>C (p.Glu141Ala)
c.425A>C (p.Glu142Ala)
c.428A>C (p.Glu143Ala)
n.573A>C
c.374A>C (p.Glu125Ala)
c.521A>C (p.Glu174Ala)
c.452A>C (p.Glu151Ala)
15g.74892779A>GCA393173665MPIc.464A>G (p.Glu155Gly)
c.314A>G (p.Glu105Gly)
c.*360A>G (n.*360A>G)
c.404A>G (p.Glu135Gly)
c.255+1290A>G (n.255+1290A>G)
n.495A>G
c.422A>G (p.Glu141Gly)
c.425A>G (p.Glu142Gly)
c.428A>G (p.Glu143Gly)
n.573A>G
c.374A>G (p.Glu125Gly)
c.521A>G (p.Glu174Gly)
c.452A>G (p.Glu151Gly)
15g.74892779A>TCA393173666MPIc.464A>T (p.Glu155Val)
c.314A>T (p.Glu105Val)
c.*360A>T (n.*360A>T)
c.404A>T (p.Glu135Val)
c.255+1290A>T (n.255+1290A>T)
n.495A>T
c.422A>T (p.Glu141Val)
c.425A>T (p.Glu142Val)
c.428A>T (p.Glu143Val)
n.573A>T
c.374A>T (p.Glu125Val)
c.521A>T (p.Glu174Val)
c.452A>T (p.Glu151Val)
15g.74892780G>ACA491220410MPIc.465G>A (p.Glu155=)
c.315G>A (p.Glu105=)
c.*361G>A (n.*361G>A)
c.405G>A (p.Glu135=)
c.255+1291G>A (n.255+1291G>A)
n.496G>A
c.423G>A (p.Glu141=)
c.426G>A (p.Glu142=)
c.429G>A (p.Glu143=)
n.574G>A
c.375G>A (p.Glu125=)
c.522G>A (p.Glu174=)
c.453G>A (p.Glu151=)
 ClinVar
15g.74892780G>CCA393173668MPIc.465G>C (p.Glu155Asp)
c.315G>C (p.Glu105Asp)
c.*361G>C (n.*361G>C)
c.405G>C (p.Glu135Asp)
c.255+1291G>C (n.255+1291G>C)
n.496G>C
c.423G>C (p.Glu141Asp)
c.426G>C (p.Glu142Asp)
c.429G>C (p.Glu143Asp)
n.574G>C
c.375G>C (p.Glu125Asp)
c.522G>C (p.Glu174Asp)
c.453G>C (p.Glu151Asp)
15g.74892780G>TCA393173670MPIc.465G>T (p.Glu155Asp)
c.315G>T (p.Glu105Asp)
c.*361G>T (n.*361G>T)
c.405G>T (p.Glu135Asp)
c.255+1291G>T (n.255+1291G>T)
n.496G>T
c.423G>T (p.Glu141Asp)
c.426G>T (p.Glu142Asp)
c.429G>T (p.Glu143Asp)
n.574G>T
c.375G>T (p.Glu125Asp)
c.522G>T (p.Glu174Asp)
c.453G>T (p.Glu151Asp)
15g.74892781G>ACA393173678MPIc.466G>A (p.Glu156Lys)
c.316G>A (p.Glu106Lys)
c.*362G>A (n.*362G>A)
c.406G>A (p.Glu136Lys)
c.255+1292G>A (n.255+1292G>A)
n.497G>A
c.424G>A (p.Glu142Lys)
c.427G>A (p.Glu143Lys)
c.430G>A (p.Glu144Lys)
n.575G>A
c.376G>A (p.Glu126Lys)
c.523G>A
c.454G>A (p.Glu152Lys)
 dbSNP gnomAD v4
15g.74892781G>CCA393173675MPIc.466G>C (p.Glu156Gln)
c.316G>C (p.Glu106Gln)
c.*362G>C (n.*362G>C)
c.406G>C (p.Glu136Gln)
c.255+1292G>C (n.255+1292G>C)
n.497G>C
c.424G>C (p.Glu142Gln)
c.427G>C (p.Glu143Gln)
c.430G>C (p.Glu144Gln)
n.575G>C
c.376G>C (p.Glu126Gln)
c.523G>C
c.454G>C (p.Glu152Gln)
 gnomAD v4
15g.74892781G=CA2187896863MPIc.466G= (p.Glu156=)
c.316G= (p.Glu106=)
c.*362G= (n.*362G=)
c.406G= (p.Glu136=)
c.255+1292G= (n.255+1292G=)
n.497G=
c.424G= (p.Glu142=)
c.427G= (p.Glu143=)
c.430G= (p.Glu144=)
n.575G=
c.376G= (p.Glu126=)
c.523G=
c.454G= (p.Glu152=)
15g.74892781G>TCA393173673MPIc.466G>T (p.Glu156Ter)
c.316G>T (p.Glu106Ter)
c.*362G>T (n.*362G>T)
c.406G>T (p.Glu136Ter)
c.255+1292G>T (n.255+1292G>T)
n.497G>T
c.424G>T (p.Glu142Ter)
c.427G>T (p.Glu143Ter)
c.430G>T (p.Glu144Ter)
n.575G>T
c.376G>T (p.Glu126Ter)
c.523G>T
c.454G>T (p.Glu152Ter)
15g.74892782delCA2629529620MPIc.467del (p.Glu156GlyfsTer3)
c.317del (p.Glu106GlyfsTer3)
c.*363del (n.*363del)
c.407del (p.Glu136GlyfsTer3)
c.255+1293del (n.255+1293del)
n.498del
c.425del (p.Glu142GlyfsTer3)
c.428del (p.Glu143GlyfsTer3)
c.431del (p.Glu144GlyfsTer3)
n.576del
c.377del (p.Glu126GlyfsTer3)
c.455del (p.Glu152GlyfsTer3)
 gnomAD v4
15g.74892782A=CA2187896865MPIc.467A= (p.Glu156=)
c.317A= (p.Glu106=)
c.*363A= (n.*363A=)
c.407A= (p.Glu136=)
c.255+1293A= (n.255+1293A=)
n.498A=
c.425A= (p.Glu142=)
c.428A= (p.Glu143=)
c.431A= (p.Glu144=)
n.576A=
c.377A= (p.Glu126=)
c.455A= (p.Glu152=)
15g.74892782A>CCA393173681MPIc.467A>C (p.Glu156Ala)
c.317A>C (p.Glu106Ala)
c.*363A>C (n.*363A>C)
c.407A>C (p.Glu136Ala)
c.255+1293A>C (n.255+1293A>C)
n.498A>C
c.425A>C (p.Glu142Ala)
c.428A>C (p.Glu143Ala)
c.431A>C (p.Glu144Ala)
n.576A>C
c.377A>C (p.Glu126Ala)
c.455A>C (p.Glu152Ala)
15g.74892782A>GCA393173687MPIc.467A>G (p.Glu156Gly)
c.317A>G (p.Glu106Gly)
c.*363A>G (n.*363A>G)
c.407A>G (p.Glu136Gly)
c.255+1293A>G (n.255+1293A>G)
n.498A>G
c.425A>G (p.Glu142Gly)
c.428A>G (p.Glu143Gly)
c.431A>G (p.Glu144Gly)
n.576A>G
c.377A>G (p.Glu126Gly)
c.455A>G (p.Glu152Gly)
 dbSNP
15g.74892782A>TCA393173684MPIc.467A>T (p.Glu156Val)
c.317A>T (p.Glu106Val)
c.*363A>T (n.*363A>T)
c.407A>T (p.Glu136Val)
c.255+1293A>T (n.255+1293A>T)
n.498A>T
c.425A>T (p.Glu142Val)
c.428A>T (p.Glu143Val)
c.431A>T (p.Glu144Val)
n.576A>T
c.377A>T (p.Glu126Val)
c.455A>T (p.Glu152Val)
15g.74892783G>ACA491220412MPIc.468G>A (p.Glu156=)
c.318G>A (p.Glu106=)
c.*364G>A (n.*364G>A)
c.408G>A (p.Glu136=)
c.255+1294G>A (n.255+1294G>A)
n.499G>A
c.426G>A (p.Glu142=)
c.429G>A (p.Glu143=)
c.432G>A (p.Glu144=)
n.577G>A
c.378G>A (p.Glu126=)
c.456G>A (p.Glu152=)
 COSMIC
15g.74892783G>CCA393173691MPIc.468G>C (p.Glu156Asp)
c.318G>C (p.Glu106Asp)
c.*364G>C (n.*364G>C)
c.408G>C (p.Glu136Asp)
c.255+1294G>C (n.255+1294G>C)
n.499G>C
c.426G>C (p.Glu142Asp)
c.429G>C (p.Glu143Asp)
c.432G>C (p.Glu144Asp)
n.577G>C
c.378G>C (p.Glu126Asp)
c.456G>C (p.Glu152Asp)
15g.74892783G>TCA393173693MPIc.468G>T (p.Glu156Asp)
c.318G>T (p.Glu106Asp)
c.*364G>T (n.*364G>T)
c.408G>T (p.Glu136Asp)
c.255+1294G>T (n.255+1294G>T)
n.499G>T
c.426G>T (p.Glu142Asp)
c.429G>T (p.Glu143Asp)
c.432G>T (p.Glu144Asp)
n.577G>T
c.378G>T (p.Glu126Asp)
c.456G>T (p.Glu152Asp)
15g.74892784A>CCA393173696MPIc.469A>C (p.Ile157Leu)
c.319A>C (p.Ile107Leu)
c.*365A>C (n.*365A>C)
c.409A>C (p.Ile137Leu)
c.255+1295A>C (n.255+1295A>C)
n.500A>C
c.427A>C (p.Ile143Leu)
c.430A>C (p.Ile144Leu)
c.433A>C (p.Ile145Leu)
n.578A>C
c.379A>C (p.Ile127Leu)
c.457A>C (p.Ile153Leu)
15g.74892784A>GCA393173704MPIc.469A>G (p.Ile157Val)
c.319A>G (p.Ile107Val)
c.*365A>G (n.*365A>G)
c.409A>G (p.Ile137Val)
c.255+1295A>G (n.255+1295A>G)
n.500A>G
c.427A>G (p.Ile143Val)
c.430A>G (p.Ile144Val)
c.433A>G (p.Ile145Val)
n.578A>G
c.379A>G (p.Ile127Val)
c.457A>G (p.Ile153Val)
15g.74892784A>TCA393173707MPIc.469A>T (p.Ile157Phe)
c.319A>T (p.Ile107Phe)
c.*365A>T (n.*365A>T)
c.409A>T (p.Ile137Phe)
c.255+1295A>T (n.255+1295A>T)
n.500A>T
c.427A>T (p.Ile143Phe)
c.430A>T (p.Ile144Phe)
c.433A>T (p.Ile145Phe)
n.578A>T
c.379A>T (p.Ile127Phe)
c.457A>T (p.Ile153Phe)
15g.74892785T>ACA393173711MPIc.470T>A (p.Ile157Asn)
c.320T>A (p.Ile107Asn)
c.*366T>A (n.*366T>A)
c.410T>A (p.Ile137Asn)
c.255+1296T>A (n.255+1296T>A)
n.501T>A
c.428T>A (p.Ile143Asn)
c.431T>A (p.Ile144Asn)
c.434T>A (p.Ile145Asn)
n.579T>A
c.380T>A (p.Ile127Asn)
c.458T>A (p.Ile153Asn)
15g.74892785T>CCA393173714MPIc.470T>C (p.Ile157Thr)
c.320T>C (p.Ile107Thr)
c.*366T>C (n.*366T>C)
c.410T>C (p.Ile137Thr)
c.255+1296T>C (n.255+1296T>C)
n.501T>C
c.428T>C (p.Ile143Thr)
c.431T>C (p.Ile144Thr)
c.434T>C (p.Ile145Thr)
n.579T>C
c.380T>C (p.Ile127Thr)
c.458T>C (p.Ile153Thr)
 gnomAD v4
15g.74892785T>GCA393173717MPIc.470T>G (p.Ile157Ser)
c.320T>G (p.Ile107Ser)
c.*366T>G (n.*366T>G)
c.410T>G (p.Ile137Ser)
c.255+1296T>G (n.255+1296T>G)
n.501T>G
c.428T>G (p.Ile143Ser)
c.431T>G (p.Ile144Ser)
c.434T>G (p.Ile145Ser)
n.579T>G
c.380T>G (p.Ile127Ser)
c.458T>G (p.Ile153Ser)
15g.74892785_74892787delinsTTGCA2187896867MPIc.470_472delinsTTG (p.Ile157=)
c.320_322delinsTTG (p.Ile107=)
c.*366_*368delinsTTG (n.*366_*368delinsTTG)
c.410_412delinsTTG (p.Ile137=)
c.255+1296_255+1298delinsTTG (n.255+1296_255+1298delinsTTG)
n.501_503delinsTTG
c.428_430delinsTTG (p.Ile143=)
c.431_433delinsTTG (p.Ile144=)
c.434_436delinsTTG (p.Ile145=)
n.579_581delinsTTG
c.380_382delinsTTG (p.Ile127=)
c.458_460delinsTTG (p.Ile153=)
15g.74892786T>ACA491220413MPIc.471T>A (p.Ile157=)
c.321T>A (p.Ile107=)
c.*367T>A (n.*367T>A)
c.411T>A (p.Ile137=)
c.255+1297T>A (n.255+1297T>A)
n.502T>A
c.429T>A (p.Ile143=)
c.432T>A (p.Ile144=)
c.435T>A (p.Ile145=)
n.580T>A
c.381T>A (p.Ile127=)
c.459T>A (p.Ile153=)
 ClinVar dbSNP
15g.74892786T>CCA491220414MPIc.471T>C (p.Ile157=)
c.321T>C (p.Ile107=)
c.*367T>C (n.*367T>C)
c.411T>C (p.Ile137=)
c.255+1297T>C (n.255+1297T>C)
n.502T>C
c.429T>C (p.Ile143=)
c.432T>C (p.Ile144=)
c.435T>C (p.Ile145=)
n.580T>C
c.381T>C (p.Ile127=)
c.459T>C (p.Ile153=)
 ClinVar dbSNP gnomAD v4
15g.74892786T>GCA393173719MPIc.471T>G (p.Ile157Met)
c.321T>G (p.Ile107Met)
c.*367T>G (n.*367T>G)
c.411T>G (p.Ile137Met)
c.255+1297T>G (n.255+1297T>G)
n.502T>G
c.429T>G (p.Ile143Met)
c.432T>G (p.Ile144Met)
c.435T>G (p.Ile145Met)
n.580T>G
c.381T>G (p.Ile127Met)
c.459T>G (p.Ile153Met)
15g.74892786T=CA2187896870MPIc.471T= (p.Ile157=)
c.321T= (p.Ile107=)
c.*367T= (n.*367T=)
c.411T= (p.Ile137=)
c.255+1297T= (n.255+1297T=)
n.502T=
c.429T= (p.Ile143=)
c.432T= (p.Ile144=)
c.435T= (p.Ile145=)
n.580T=
c.381T= (p.Ile127=)
c.459T= (p.Ile153=)
15g.74892787_74892788delCA619126275MPIc.472_473del (p.Val158AsnfsTer8)
c.472_473del (p.Val158AsnfsTer29)
c.322_323del (p.Val108AsnfsTer8)
c.*368_*369del (n.*368_*369del)
c.412_413del (p.Val138AsnfsTer8)
c.255+1298_255+1299del (n.255+1298_255+1299del)
c.322_323del (p.Val108AsnfsTer29)
n.503_504del
c.430_431del (p.Val144AsnfsTer8)
c.433_434del (p.Val145AsnfsTer29)
c.436_437del (p.Val146AsnfsTer8)
n.581_582del
c.382_383del (p.Val128AsnfsTer8)
c.460_461del (p.Val154AsnfsTer8)
 dbSNP gnomAD v2 gnomAD v4
15g.74892787G>ACA10646608MPIc.472G>A (p.Val158Ile)
c.322G>A (p.Val108Ile)
c.*368G>A (n.*368G>A)
c.412G>A (p.Val138Ile)
c.255+1298G>A (n.255+1298G>A)
n.503G>A
c.430G>A (p.Val144Ile)
c.433G>A (p.Val145Ile)
c.436G>A (p.Val146Ile)
n.581G>A
c.382G>A (p.Val128Ile)
c.460G>A (p.Val154Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74892787G>CCA393173727MPIc.472G>C (p.Val158Leu)
c.322G>C (p.Val108Leu)
c.*368G>C (n.*368G>C)
c.412G>C (p.Val138Leu)
c.255+1298G>C (n.255+1298G>C)
n.503G>C
c.430G>C (p.Val144Leu)
c.433G>C (p.Val145Leu)
c.436G>C (p.Val146Leu)
n.581G>C
c.382G>C (p.Val128Leu)
c.460G>C (p.Val154Leu)
15g.74892787G=CA2187896874MPIc.472G= (p.Val158=)
c.322G= (p.Val108=)
c.*368G= (n.*368G=)
c.412G= (p.Val138=)
c.255+1298G= (n.255+1298G=)
n.503G=
c.430G= (p.Val144=)
c.433G= (p.Val145=)
c.436G= (p.Val146=)
n.581G=
c.382G= (p.Val128=)
c.460G= (p.Val154=)
15g.74892787G>TCA393173730MPIc.472G>T (p.Val158Leu)
c.322G>T (p.Val108Leu)
c.*368G>T (n.*368G>T)
c.412G>T (p.Val138Leu)
c.255+1298G>T (n.255+1298G>T)
n.503G>T
c.430G>T (p.Val144Leu)
c.433G>T (p.Val145Leu)
c.436G>T (p.Val146Leu)
n.581G>T
c.382G>T (p.Val128Leu)
c.460G>T (p.Val154Leu)
15g.74892788T>ACA393173734MPIc.473T>A (p.Val158Glu)
c.323T>A (p.Val108Glu)
c.*369T>A (n.*369T>A)
c.413T>A (p.Val138Glu)
c.255+1299T>A (n.255+1299T>A)
n.504T>A
c.431T>A (p.Val144Glu)
c.434T>A (p.Val145Glu)
c.437T>A (p.Val146Glu)
n.582T>A
c.383T>A (p.Val128Glu)
c.461T>A (p.Val154Glu)
15g.74892788T>CCA393173737MPIc.473T>C (p.Val158Ala)
c.323T>C (p.Val108Ala)
c.*369T>C (n.*369T>C)
c.413T>C (p.Val138Ala)
c.255+1299T>C (n.255+1299T>C)
n.504T>C
c.431T>C (p.Val144Ala)
c.434T>C (p.Val145Ala)
c.437T>C (p.Val146Ala)
n.582T>C
c.383T>C (p.Val128Ala)
c.461T>C (p.Val154Ala)
15g.74892788T>GCA393173740MPIc.473T>G (p.Val158Gly)
c.323T>G (p.Val108Gly)
c.*369T>G (n.*369T>G)
c.413T>G (p.Val138Gly)
c.255+1299T>G (n.255+1299T>G)
n.504T>G
c.431T>G (p.Val144Gly)
c.434T>G (p.Val145Gly)
c.437T>G (p.Val146Gly)
n.582T>G
c.383T>G (p.Val128Gly)
c.461T>G (p.Val154Gly)
15g.74892789A>CCA491220418MPIc.474A>C (p.Val158=)
c.324A>C (p.Val108=)
c.*370A>C (n.*370A>C)
c.414A>C (p.Val138=)
c.255+1300A>C (n.255+1300A>C)
n.505A>C
c.432A>C (p.Val144=)
c.435A>C (p.Val145=)
c.438A>C (p.Val146=)
n.583A>C
c.384A>C (p.Val128=)
c.462A>C (p.Val154=)
15g.74892789A>GCA491220416MPIc.474A>G (p.Val158=)
c.324A>G (p.Val108=)
c.*370A>G (n.*370A>G)
c.414A>G (p.Val138=)
c.255+1300A>G (n.255+1300A>G)
n.505A>G
c.432A>G (p.Val144=)
c.435A>G (p.Val145=)
c.438A>G (p.Val146=)
n.583A>G
c.384A>G (p.Val128=)
c.462A>G (p.Val154=)
15g.74892789A>TCA491220417MPIc.474A>T (p.Val158=)
c.324A>T (p.Val108=)
c.*370A>T (n.*370A>T)
c.414A>T (p.Val138=)
c.255+1300A>T (n.255+1300A>T)
n.505A>T
c.432A>T (p.Val144=)
c.435A>T (p.Val145=)
c.438A>T (p.Val146=)
n.583A>T
c.384A>T (p.Val128=)
c.462A>T (p.Val154=)
15g.74892789_74892790insCACA2629529641MPIc.474_475insCA (p.Thr159GlnfsTer4)
c.324_325insCA (p.Thr109GlnfsTer4)
c.*370_*371insCA (n.*370_*371insCA)
c.414_415insCA (p.Thr139GlnfsTer4)
c.255+1300_255+1301insCA (n.255+1300_255+1301insCA)
n.505_506insCA
c.432_433insCA (p.Thr145GlnfsTer4)
c.435_436insCA (p.Thr146GlnfsTer4)
c.438_439insCA (p.Thr147GlnfsTer4)
n.583_584insCA
c.384_385insCA (p.Thr129GlnfsTer4)
c.462_463insCA (p.Thr155GlnfsTer4)
 gnomAD v4
15g.74892790A>CCA393173749MPIc.475A>C (p.Thr159Pro)
c.325A>C (p.Thr109Pro)
c.*371A>C (n.*371A>C)
c.415A>C (p.Thr139Pro)
c.255+1301A>C (n.255+1301A>C)
n.506A>C
c.433A>C (p.Thr145Pro)
c.436A>C (p.Thr146Pro)
c.439A>C (p.Thr147Pro)
n.584A>C
c.385A>C (p.Thr129Pro)
c.463A>C (p.Thr155Pro)
15g.74892790A>GCA393173746MPIc.475A>G (p.Thr159Ala)
c.325A>G (p.Thr109Ala)
c.*371A>G (n.*371A>G)
c.415A>G (p.Thr139Ala)
c.255+1301A>G (n.255+1301A>G)
n.506A>G
c.433A>G (p.Thr145Ala)
c.436A>G (p.Thr146Ala)
c.439A>G (p.Thr147Ala)
n.584A>G
c.385A>G (p.Thr129Ala)
c.463A>G (p.Thr155Ala)
15g.74892790A>TCA393173743MPIc.475A>T (p.Thr159Ser)
c.325A>T (p.Thr109Ser)
c.*371A>T (n.*371A>T)
c.415A>T (p.Thr139Ser)
c.255+1301A>T (n.255+1301A>T)
n.506A>T
c.433A>T (p.Thr145Ser)
c.436A>T (p.Thr146Ser)
c.439A>T (p.Thr147Ser)
n.584A>T
c.385A>T (p.Thr129Ser)
c.463A>T (p.Thr155Ser)
15g.74892791C>ACA393173752MPIc.476C>A (p.Thr159Asn)
c.326C>A (p.Thr109Asn)
c.*372C>A (n.*372C>A)
c.416C>A (p.Thr139Asn)
c.255+1302C>A (n.255+1302C>A)
n.507C>A
c.434C>A (p.Thr145Asn)
c.437C>A (p.Thr146Asn)
c.440C>A (p.Thr147Asn)
n.585C>A
c.386C>A (p.Thr129Asn)
c.464C>A (p.Thr155Asn)
 dbSNP
15g.74892791C=CA2187896876MPIc.476C= (p.Thr159=)
c.326C= (p.Thr109=)
c.*372C= (n.*372C=)
c.416C= (p.Thr139=)
c.255+1302C= (n.255+1302C=)
n.507C=
c.434C= (p.Thr145=)
c.437C= (p.Thr146=)
c.440C= (p.Thr147=)
n.585C=
c.386C= (p.Thr129=)
c.464C= (p.Thr155=)
15g.74892791C>GCA393173754MPIc.476C>G (p.Thr159Ser)
c.326C>G (p.Thr109Ser)
c.*372C>G (n.*372C>G)
c.416C>G (p.Thr139Ser)
c.255+1302C>G (n.255+1302C>G)
n.507C>G
c.434C>G (p.Thr145Ser)
c.437C>G (p.Thr146Ser)
c.440C>G (p.Thr147Ser)
n.585C>G
c.386C>G (p.Thr129Ser)
c.464C>G (p.Thr155Ser)
15g.74892791C>TCA393173756MPIc.476C>T (p.Thr159Ile)
c.326C>T (p.Thr109Ile)
c.*372C>T (n.*372C>T)
c.416C>T (p.Thr139Ile)
c.255+1302C>T (n.255+1302C>T)
n.507C>T
c.434C>T (p.Thr145Ile)
c.437C>T (p.Thr146Ile)
c.440C>T (p.Thr147Ile)
n.585C>T
c.386C>T (p.Thr129Ile)
c.464C>T (p.Thr155Ile)
15g.74892792C>ACA491220420MPIc.477C>A (p.Thr159=)
c.327C>A (p.Thr109=)
c.*373C>A (n.*373C>A)
c.417C>A (p.Thr139=)
c.255+1303C>A (n.255+1303C>A)
n.508C>A
c.435C>A (p.Thr145=)
c.438C>A (p.Thr146=)
c.441C>A (p.Thr147=)
n.586C>A
c.387C>A (p.Thr129=)
c.465C>A (p.Thr155=)
15g.74892792C=CA2187896878MPIc.477C= (p.Thr159=)
c.327C= (p.Thr109=)
c.*373C= (n.*373C=)
c.417C= (p.Thr139=)
c.255+1303C= (n.255+1303C=)
n.508C=
c.435C= (p.Thr145=)
c.438C= (p.Thr146=)
c.441C= (p.Thr147=)
n.586C=
c.387C= (p.Thr129=)
c.465C= (p.Thr155=)
15g.74892792C>GCA491220421MPIc.477C>G (p.Thr159=)
c.327C>G (p.Thr109=)
c.*373C>G (n.*373C>G)
c.417C>G (p.Thr139=)
c.255+1303C>G (n.255+1303C>G)
n.508C>G
c.435C>G (p.Thr145=)
c.438C>G (p.Thr146=)
c.441C>G (p.Thr147=)
n.586C>G
c.387C>G (p.Thr129=)
c.465C>G (p.Thr155=)
15g.74892792C>TCA491220422MPIc.477C>T (p.Thr159=)
c.327C>T (p.Thr109=)
c.*373C>T (n.*373C>T)
c.417C>T (p.Thr139=)
c.255+1303C>T (n.255+1303C>T)
n.508C>T
c.435C>T (p.Thr145=)
c.438C>T (p.Thr146=)
c.441C>T (p.Thr147=)
n.586C>T
c.387C>T (p.Thr129=)
c.465C>T (p.Thr155=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74892793T>ACA393173758MPIc.478T>A (p.Phe160Ile)
c.328T>A (p.Phe110Ile)
c.*374T>A (n.*374T>A)
c.418T>A (p.Phe140Ile)
c.255+1304T>A (n.255+1304T>A)
n.509T>A
c.436T>A (p.Phe146Ile)
c.439T>A (p.Phe147Ile)
c.442T>A (p.Phe148Ile)
n.587T>A
c.388T>A (p.Phe130Ile)
c.466T>A (p.Phe156Ile)
15g.74892793T>CCA393173760MPIc.478T>C (p.Phe160Leu)
c.328T>C (p.Phe110Leu)
c.*374T>C (n.*374T>C)
c.418T>C (p.Phe140Leu)
c.255+1304T>C (n.255+1304T>C)
n.509T>C
c.436T>C (p.Phe146Leu)
c.439T>C (p.Phe147Leu)
c.442T>C (p.Phe148Leu)
n.587T>C
c.388T>C (p.Phe130Leu)
c.466T>C (p.Phe156Leu)
15g.74892793T>GCA393173762MPIc.478T>G (p.Phe160Val)
c.328T>G (p.Phe110Val)
c.*374T>G (n.*374T>G)
c.418T>G (p.Phe140Val)
c.255+1304T>G (n.255+1304T>G)
n.509T>G
c.436T>G (p.Phe146Val)
c.439T>G (p.Phe147Val)
c.442T>G (p.Phe148Val)
n.587T>G
c.388T>G (p.Phe130Val)
c.466T>G (p.Phe156Val)
 dbSNP gnomAD v4
15g.74892793T=CA2187896880MPIc.478T= (p.Phe160=)
c.328T= (p.Phe110=)
c.*374T= (n.*374T=)
c.418T= (p.Phe140=)
c.255+1304T= (n.255+1304T=)
n.509T=
c.436T= (p.Phe146=)
c.439T= (p.Phe147=)
c.442T= (p.Phe148=)
n.587T=
c.388T= (p.Phe130=)
c.466T= (p.Phe156=)
15g.74892794T>ACA393173766MPIc.479T>A (p.Phe160Tyr)
c.329T>A (p.Phe110Tyr)
c.*375T>A (n.*375T>A)
c.419T>A (p.Phe140Tyr)
c.255+1305T>A (n.255+1305T>A)
n.510T>A
c.437T>A (p.Phe146Tyr)
c.440T>A (p.Phe147Tyr)
c.443T>A (p.Phe148Tyr)
n.588T>A
c.389T>A (p.Phe130Tyr)
c.467T>A (p.Phe156Tyr)
15g.74892794T>CCA393173768MPIc.479T>C (p.Phe160Ser)
c.329T>C (p.Phe110Ser)
c.*375T>C (n.*375T>C)
c.419T>C (p.Phe140Ser)
c.255+1305T>C (n.255+1305T>C)
n.510T>C
c.437T>C (p.Phe146Ser)
c.440T>C (p.Phe147Ser)
c.443T>C (p.Phe148Ser)
n.588T>C
c.389T>C (p.Phe130Ser)
c.467T>C (p.Phe156Ser)
15g.74892794T>GCA7662443MPIc.479T>G (p.Phe160Cys)
c.329T>G (p.Phe110Cys)
c.*375T>G (n.*375T>G)
c.419T>G (p.Phe140Cys)
c.255+1305T>G (n.255+1305T>G)
n.510T>G
c.437T>G (p.Phe146Cys)
c.440T>G (p.Phe147Cys)
c.443T>G (p.Phe148Cys)
n.588T>G
c.389T>G (p.Phe130Cys)
c.467T>G (p.Phe156Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892794T=CA2187896882MPIc.479T= (p.Phe160=)
c.329T= (p.Phe110=)
c.*375T= (n.*375T=)
c.419T= (p.Phe140=)
c.255+1305T= (n.255+1305T=)
n.510T=
c.437T= (p.Phe146=)
c.440T= (p.Phe147=)
c.443T= (p.Phe148=)
n.588T=
c.389T= (p.Phe130=)
c.467T= (p.Phe156=)
15g.74892795T>ACA393173774MPIc.480T>A (p.Phe160Leu)
c.330T>A (p.Phe110Leu)
c.*376T>A (n.*376T>A)
c.420T>A (p.Phe140Leu)
c.255+1306T>A (n.255+1306T>A)
n.511T>A
c.438T>A (p.Phe146Leu)
c.441T>A (p.Phe147Leu)
c.444T>A (p.Phe148Leu)
n.589T>A
c.390T>A (p.Phe130Leu)
c.468T>A (p.Phe156Leu)
15g.74892795T>CCA491220423MPIc.480T>C (p.Phe160=)
c.330T>C (p.Phe110=)
c.*376T>C (n.*376T>C)
c.420T>C (p.Phe140=)
c.255+1306T>C (n.255+1306T>C)
n.511T>C
c.438T>C (p.Phe146=)
c.441T>C (p.Phe147=)
c.444T>C (p.Phe148=)
n.589T>C
c.390T>C (p.Phe130=)
c.468T>C (p.Phe156=)
15g.74892795T>GCA393173777MPIc.480T>G (p.Phe160Leu)
c.330T>G (p.Phe110Leu)
c.*376T>G (n.*376T>G)
c.420T>G (p.Phe140Leu)
c.255+1306T>G (n.255+1306T>G)
n.511T>G
c.438T>G (p.Phe146Leu)
c.441T>G (p.Phe147Leu)
c.444T>G (p.Phe148Leu)
n.589T>G
c.390T>G (p.Phe130Leu)
c.468T>G (p.Phe156Leu)
15g.74892796C>ACA393173780MPIc.481C>A (p.Leu161Ile)
c.331C>A (p.Leu111Ile)
c.*377C>A (n.*377C>A)
c.421C>A (p.Leu141Ile)
c.255+1307C>A (n.255+1307C>A)
n.512C>A
c.439C>A (p.Leu147Ile)
c.442C>A (p.Leu148Ile)
c.445C>A (p.Leu149Ile)
n.590C>A
c.391C>A (p.Leu131Ile)
c.469C>A (p.Leu157Ile)
15g.74892796C>GCA393173783MPIc.481C>G (p.Leu161Val)
c.331C>G (p.Leu111Val)
c.*377C>G (n.*377C>G)
c.421C>G (p.Leu141Val)
c.255+1307C>G (n.255+1307C>G)
n.512C>G
c.439C>G (p.Leu147Val)
c.442C>G (p.Leu148Val)
c.445C>G (p.Leu149Val)
n.590C>G
c.391C>G (p.Leu131Val)
c.469C>G (p.Leu157Val)
15g.74892796C>TCA491220424MPIc.481C>T (p.Leu161=)
c.331C>T (p.Leu111=)
c.*377C>T (n.*377C>T)
c.421C>T (p.Leu141=)
c.255+1307C>T (n.255+1307C>T)
n.512C>T
c.439C>T (p.Leu147=)
c.442C>T (p.Leu148=)
c.445C>T (p.Leu149=)
n.590C>T
c.391C>T (p.Leu131=)
c.469C>T (p.Leu157=)
15g.74892797T>ACA393173790MPIc.482T>A (p.Leu161Gln)
c.332T>A (p.Leu111Gln)
c.*378T>A (n.*378T>A)
c.422T>A (p.Leu141Gln)
c.255+1308T>A (n.255+1308T>A)
n.513T>A
c.440T>A (p.Leu147Gln)
c.443T>A (p.Leu148Gln)
c.446T>A (p.Leu149Gln)
n.591T>A
c.392T>A (p.Leu131Gln)
c.470T>A (p.Leu157Gln)
15g.74892797T>CCA393173793MPIc.482T>C (p.Leu161Pro)
c.332T>C (p.Leu111Pro)
c.*378T>C (n.*378T>C)
c.422T>C (p.Leu141Pro)
c.255+1308T>C (n.255+1308T>C)
n.513T>C
c.440T>C (p.Leu147Pro)
c.443T>C (p.Leu148Pro)
c.446T>C (p.Leu149Pro)
n.591T>C
c.392T>C (p.Leu131Pro)
c.470T>C (p.Leu157Pro)
15g.74892797T>GCA393173786MPIc.482T>G (p.Leu161Arg)
c.332T>G (p.Leu111Arg)
c.*378T>G (n.*378T>G)
c.422T>G (p.Leu141Arg)
c.255+1308T>G (n.255+1308T>G)
n.513T>G
c.440T>G (p.Leu147Arg)
c.443T>G (p.Leu148Arg)
c.446T>G (p.Leu149Arg)
n.591T>G
c.392T>G (p.Leu131Arg)
c.470T>G (p.Leu157Arg)
15g.74892797_74892799delinsTAACA2187896884MPIc.482_484delinsTAA (p.Leu161=)
c.332_334delinsTAA (p.Leu111=)
c.*378_*380delinsTAA (n.*378_*380delinsTAA)
c.422_424delinsTAA (p.Leu141=)
c.255+1308_255+1310delinsTAA (n.255+1308_255+1310delinsTAA)
n.513_515delinsTAA
c.440_442delinsTAA (p.Leu147=)
c.443_445delinsTAA (p.Leu148=)
c.446_448delinsTAA (p.Leu149=)
n.591_593delinsTAA
c.392_394delinsTAA (p.Leu131=)
c.470_472delinsTAA (p.Leu157=)
15g.74892798A=CA2187896887MPIc.483A= (p.Leu161=)
c.333A= (p.Leu111=)
c.*379A= (n.*379A=)
c.423A= (p.Leu141=)
c.255+1309A= (n.255+1309A=)
n.514A=
c.441A= (p.Leu147=)
c.444A= (p.Leu148=)
c.447A= (p.Leu149=)
n.592A=
c.393A= (p.Leu131=)
c.471A= (p.Leu157=)
15g.74892798A>CCA491220425MPIc.483A>C (p.Leu161=)
c.333A>C (p.Leu111=)
c.*379A>C (n.*379A>C)
c.423A>C (p.Leu141=)
c.255+1309A>C (n.255+1309A>C)
n.514A>C
c.441A>C (p.Leu147=)
c.444A>C (p.Leu148=)
c.447A>C (p.Leu149=)
n.592A>C
c.393A>C (p.Leu131=)
c.471A>C (p.Leu157=)
15g.74892798A>GCA7662444MPIc.483A>G (p.Leu161=)
c.333A>G (p.Leu111=)
c.*379A>G (n.*379A>G)
c.423A>G (p.Leu141=)
c.255+1309A>G (n.255+1309A>G)
n.514A>G
c.441A>G (p.Leu147=)
c.444A>G (p.Leu148=)
c.447A>G (p.Leu149=)
n.592A>G
c.393A>G (p.Leu131=)
c.471A>G (p.Leu157=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892798A>TCA491220426MPIc.483A>T (p.Leu161=)
c.333A>T (p.Leu111=)
c.*379A>T (n.*379A>T)
c.423A>T (p.Leu141=)
c.255+1309A>T (n.255+1309A>T)
n.514A>T
c.441A>T (p.Leu147=)
c.444A>T (p.Leu148=)
c.447A>T (p.Leu149=)
n.592A>T
c.393A>T (p.Leu131=)
c.471A>T (p.Leu157=)
15g.74892799_74892800delCA715704064MPIc.484_485del (p.Lys162GlufsTer4)
c.484_485del (p.Lys162AspfsTer25)
c.334_335del (p.Lys112GlufsTer4)
c.*380_*381del (n.*380_*381del)
c.424_425del (p.Lys142GlufsTer4)
c.255+1310_255+1311del (n.255+1310_255+1311del)
c.334_335del (p.Lys112AspfsTer25)
n.515_516del
c.442_443del (p.Lys148GlufsTer4)
c.445_446del (p.Lys149AspfsTer25)
c.448_449del (p.Lys150GlufsTer4)
n.593_594del
c.394_395del (p.Lys132GlufsTer4)
c.472_473del (p.Lys158GlufsTer4)
 dbSNP gnomAD v4
15g.74892799A>CCA393173807MPIc.484A>C (p.Lys162Gln)
c.334A>C (p.Lys112Gln)
c.*380A>C (n.*380A>C)
c.424A>C (p.Lys142Gln)
c.255+1310A>C (n.255+1310A>C)
n.515A>C
c.442A>C (p.Lys148Gln)
c.445A>C (p.Lys149Gln)
c.448A>C (p.Lys150Gln)
n.593A>C
c.394A>C (p.Lys132Gln)
c.472A>C (p.Lys158Gln)
15g.74892799A>GCA393173810MPIc.484A>G (p.Lys162Glu)
c.334A>G (p.Lys112Glu)
c.*380A>G (n.*380A>G)
c.424A>G (p.Lys142Glu)
c.255+1310A>G (n.255+1310A>G)
n.515A>G
c.442A>G (p.Lys148Glu)
c.445A>G (p.Lys149Glu)
c.448A>G (p.Lys150Glu)
n.593A>G
c.394A>G (p.Lys132Glu)
c.472A>G (p.Lys158Glu)
15g.74892799A>TCA393173813MPIc.484A>T (p.Lys162Ter)
c.334A>T (p.Lys112Ter)
c.*380A>T (n.*380A>T)
c.424A>T (p.Lys142Ter)
c.255+1310A>T (n.255+1310A>T)
n.515A>T
c.442A>T (p.Lys148Ter)
c.445A>T (p.Lys149Ter)
c.448A>T (p.Lys150Ter)
n.593A>T
c.394A>T (p.Lys132Ter)
c.472A>T (p.Lys158Ter)
15g.74892800A=CA2187896889MPIc.485A= (p.Lys162=)
c.335A= (p.Lys112=)
c.*381A= (n.*381A=)
c.425A= (p.Lys142=)
c.255+1311A= (n.255+1311A=)
n.516A=
c.443A= (p.Lys148=)
c.446A= (p.Lys149=)
c.449A= (p.Lys150=)
n.594A=
c.395A= (p.Lys132=)
c.473A= (p.Lys158=)
15g.74892800A>CCA393173815MPIc.485A>C (p.Lys162Thr)
c.335A>C (p.Lys112Thr)
c.*381A>C (n.*381A>C)
c.425A>C (p.Lys142Thr)
c.255+1311A>C (n.255+1311A>C)
n.516A>C
c.443A>C (p.Lys148Thr)
c.446A>C (p.Lys149Thr)
c.449A>C (p.Lys150Thr)
n.594A>C
c.395A>C (p.Lys132Thr)
c.473A>C (p.Lys158Thr)
15g.74892800A>GCA7662445MPIc.485A>G (p.Lys162Arg)
c.335A>G (p.Lys112Arg)
c.*381A>G (n.*381A>G)
c.425A>G (p.Lys142Arg)
c.255+1311A>G (n.255+1311A>G)
n.516A>G
c.443A>G (p.Lys148Arg)
c.446A>G (p.Lys149Arg)
c.449A>G (p.Lys150Arg)
n.594A>G
c.395A>G (p.Lys132Arg)
c.473A>G (p.Lys158Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892800A>TCA393173825MPIc.485A>T (p.Lys162Met)
c.335A>T (p.Lys112Met)
c.*381A>T (n.*381A>T)
c.425A>T (p.Lys142Met)
c.255+1311A>T (n.255+1311A>T)
n.516A>T
c.443A>T (p.Lys148Met)
c.446A>T (p.Lys149Met)
c.449A>T (p.Lys150Met)
n.594A>T
c.395A>T (p.Lys132Met)
c.473A>T (p.Lys158Met)
15g.74892801G>ACA491220427MPIc.486G>A (p.Lys162=)
c.336G>A (p.Lys112=)
c.*382G>A (n.*382G>A)
c.426G>A (p.Lys142=)
c.255+1312G>A (n.255+1312G>A)
n.517G>A
c.444G>A (p.Lys148=)
c.447G>A (p.Lys149=)
c.450G>A (p.Lys150=)
n.595G>A
c.396G>A (p.Lys132=)
c.474G>A (p.Lys158=)
15g.74892801G>CCA393173826MPIc.486G>C (p.Lys162Asn)
c.336G>C (p.Lys112Asn)
c.*382G>C (n.*382G>C)
c.426G>C (p.Lys142Asn)
c.255+1312G>C (n.255+1312G>C)
n.517G>C
c.444G>C (p.Lys148Asn)
c.447G>C (p.Lys149Asn)
c.450G>C (p.Lys150Asn)
n.595G>C
c.396G>C (p.Lys132Asn)
c.474G>C (p.Lys158Asn)
15g.74892801G>TCA393173827MPIc.486G>T (p.Lys162Asn)
c.336G>T (p.Lys112Asn)
c.*382G>T (n.*382G>T)
c.426G>T (p.Lys142Asn)
c.255+1312G>T (n.255+1312G>T)
n.517G>T
c.444G>T (p.Lys148Asn)
c.447G>T (p.Lys149Asn)
c.450G>T (p.Lys150Asn)
n.595G>T
c.396G>T (p.Lys132Asn)
c.474G>T (p.Lys158Asn)
15g.74892802A=CA2187896891MPIc.487A= (p.Lys163=)
c.487A= (p.Thr163=)
c.337A= (p.Lys113=)
c.*383A= (n.*383A=)
c.427A= (p.Lys143=)
c.255+1313A= (n.255+1313A=)
c.337A= (p.Thr113=)
n.518A=
c.445A= (p.Lys149=)
c.448A= (p.Thr150=)
c.451A= (p.Lys151=)
n.596A=
c.397A= (p.Lys133=)
c.475A= (p.Lys159=)
15g.74892802A>CCA393173830MPIc.487A>C (p.Lys163Gln)
c.487A>C (p.Thr163Pro)
c.337A>C (p.Lys113Gln)
c.*383A>C (n.*383A>C)
c.427A>C (p.Lys143Gln)
c.255+1313A>C (n.255+1313A>C)
c.337A>C (p.Thr113Pro)
n.518A>C
c.445A>C (p.Lys149Gln)
c.448A>C (p.Thr150Pro)
c.451A>C (p.Lys151Gln)
n.596A>C
c.397A>C (p.Lys133Gln)
c.475A>C (p.Lys159Gln)
15g.74892802A>GCA393173832MPIc.487A>G (p.Lys163Glu)
c.487A>G (p.Thr163Ala)
c.337A>G (p.Lys113Glu)
c.*383A>G (n.*383A>G)
c.427A>G (p.Lys143Glu)
c.255+1313A>G (n.255+1313A>G)
c.337A>G (p.Thr113Ala)
n.518A>G
c.445A>G (p.Lys149Glu)
c.448A>G (p.Thr150Ala)
c.451A>G (p.Lys151Glu)
n.596A>G
c.397A>G (p.Lys133Glu)
c.475A>G (p.Lys159Glu)
 dbSNP
15g.74892802A>TCA393173833MPIc.487A>T (p.Lys163Ter)
c.487A>T (p.Thr163Ser)
c.337A>T (p.Lys113Ter)
c.*383A>T (n.*383A>T)
c.427A>T (p.Lys143Ter)
c.255+1313A>T (n.255+1313A>T)
c.337A>T (p.Thr113Ser)
n.518A>T
c.445A>T (p.Lys149Ter)
c.448A>T (p.Thr150Ser)
c.451A>T (p.Lys151Ter)
n.596A>T
c.397A>T (p.Lys133Ter)
c.475A>T (p.Lys159Ter)
15g.74892803G>ACA393173841MPIc.487+1G>A (n.487+1G>A)
c.337+1G>A (n.337+1G>A)
c.*383+1G>A (n.*383+1G>A)
c.427+1G>A (n.427+1G>A)
c.255+1314G>A (n.255+1314G>A)
n.519G>A
c.445+1G>A (n.445+1G>A)
c.448+1G>A (n.448+1G>A)
c.451+1G>A (n.451+1G>A)
n.597G>A
c.397+1G>A (n.397+1G>A)
c.475+1G>A (n.475+1G>A)
 ClinVar gnomAD v4
15g.74892803G>CCA393173836MPIc.487+1G>C (n.487+1G>C)
c.337+1G>C (n.337+1G>C)
c.*383+1G>C (n.*383+1G>C)
c.427+1G>C (n.427+1G>C)
c.255+1314G>C (n.255+1314G>C)
n.519G>C
c.445+1G>C (n.445+1G>C)
c.448+1G>C (n.448+1G>C)
c.451+1G>C (n.451+1G>C)
n.597G>C
c.397+1G>C (n.397+1G>C)
c.475+1G>C (n.475+1G>C)
15g.74892803G>TCA393173839MPIc.487+1G>T (n.487+1G>T)
c.337+1G>T (n.337+1G>T)
c.*383+1G>T (n.*383+1G>T)
c.427+1G>T (n.427+1G>T)
c.255+1314G>T (n.255+1314G>T)
n.519G>T
c.445+1G>T (n.445+1G>T)
c.448+1G>T (n.448+1G>T)
c.451+1G>T (n.451+1G>T)
n.597G>T
c.397+1G>T (n.397+1G>T)
c.475+1G>T (n.475+1G>T)
15g.74892803_74892804delinsGTCA2187896892MPIc.487+1_487+2delinsGT (n.487+1_487+2delinsGT)
c.337+1_337+2delinsGT (n.337+1_337+2delinsGT)
c.*383+1_*383+2delinsGT (n.*383+1_*383+2delinsGT)
c.427+1_427+2delinsGT (n.427+1_427+2delinsGT)
c.255+1314_255+1315delinsGT (n.255+1314_255+1315delinsGT)
n.519_520delinsGT
c.445+1_445+2delinsGT (n.445+1_445+2delinsGT)
c.448+1_448+2delinsGT (n.448+1_448+2delinsGT)
c.451+1_451+2delinsGT (n.451+1_451+2delinsGT)
n.597_598delinsGT
c.397+1_397+2delinsGT (n.397+1_397+2delinsGT)
c.475+1_475+2delinsGT (n.475+1_475+2delinsGT)
15g.74892804_74892811delCA2629529664MPIc.487+2_487+9del (n.487+2_487+9del)
c.337+2_337+9del (n.337+2_337+9del)
c.*383+2_*383+9del (n.*383+2_*383+9del)
c.427+2_427+9del (n.427+2_427+9del)
c.255+1315_255+1322del (n.255+1315_255+1322del)
n.520_527del
c.445+2_445+9del (n.445+2_445+9del)
c.448+2_448+9del (n.448+2_448+9del)
c.451+2_451+9del (n.451+2_451+9del)
n.598_605del
c.397+2_397+9del (n.397+2_397+9del)
c.475+2_475+9del (n.475+2_475+9del)
 gnomAD v4
15g.74892804delCA16041747MPIc.487+2del (n.487+2del)
c.337+2del (n.337+2del)
c.*383+2del (n.*383+2del)
c.427+2del (n.427+2del)
c.255+1315del (n.255+1315del)
n.520del
c.445+2del (n.445+2del)
c.448+2del (n.448+2del)
c.451+2del (n.451+2del)
n.598del
c.397+2del (n.397+2del)
c.475+2del (n.475+2del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74892804T>ACA393173845MPIc.487+2T>A (n.487+2T>A)
c.337+2T>A (n.337+2T>A)
c.*383+2T>A (n.*383+2T>A)
c.427+2T>A (n.427+2T>A)
c.255+1315T>A (n.255+1315T>A)
n.520T>A
c.445+2T>A (n.445+2T>A)
c.448+2T>A (n.448+2T>A)
c.451+2T>A (n.451+2T>A)
n.598T>A
c.397+2T>A (n.397+2T>A)
c.475+2T>A (n.475+2T>A)
15g.74892804T>CCA393173847MPIc.487+2T>C (n.487+2T>C)
c.337+2T>C (n.337+2T>C)
c.*383+2T>C (n.*383+2T>C)
c.427+2T>C (n.427+2T>C)
c.255+1315T>C (n.255+1315T>C)
n.520T>C
c.445+2T>C (n.445+2T>C)
c.448+2T>C (n.448+2T>C)
c.451+2T>C (n.451+2T>C)
n.598T>C
c.397+2T>C (n.397+2T>C)
c.475+2T>C (n.475+2T>C)
15g.74892804T>GCA393173851MPIc.487+2T>G (n.487+2T>G)
c.337+2T>G (n.337+2T>G)
c.*383+2T>G (n.*383+2T>G)
c.427+2T>G (n.427+2T>G)
c.255+1315T>G (n.255+1315T>G)
n.520T>G
c.445+2T>G (n.445+2T>G)
c.448+2T>G (n.448+2T>G)
c.451+2T>G (n.451+2T>G)
n.598T>G
c.397+2T>G (n.397+2T>G)
c.475+2T>G (n.475+2T>G)
 gnomAD v4
15g.74892804dupCA2629529681MPIc.487+2dup (n.487+2dup)
c.337+2dup (n.337+2dup)
c.*383+2dup (n.*383+2dup)
c.427+2dup (n.427+2dup)
c.255+1315dup (n.255+1315dup)
n.520dup
c.445+2dup (n.445+2dup)
c.448+2dup (n.448+2dup)
c.451+2dup (n.451+2dup)
n.598dup
c.397+2dup (n.397+2dup)
c.475+2dup (n.475+2dup)
 gnomAD v4
15g.74892808T>CCA7662446MPIc.487+6T>C (n.487+6T>C)
c.337+6T>C (n.337+6T>C)
c.*383+6T>C (n.*383+6T>C)
c.427+6T>C (n.427+6T>C)
c.255+1319T>C (n.255+1319T>C)
n.524T>C
c.445+6T>C (n.445+6T>C)
c.448+6T>C (n.448+6T>C)
c.451+6T>C (n.451+6T>C)
n.602T>C
c.397+6T>C (n.397+6T>C)
c.475+6T>C (n.475+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74892808T>GCA2629529694MPIc.487+6T>G (n.487+6T>G)
c.337+6T>G (n.337+6T>G)
c.*383+6T>G (n.*383+6T>G)
c.427+6T>G (n.427+6T>G)
c.255+1319T>G (n.255+1319T>G)
n.524T>G
c.445+6T>G (n.445+6T>G)
c.448+6T>G (n.448+6T>G)
c.451+6T>G (n.451+6T>G)
n.602T>G
c.397+6T>G (n.397+6T>G)
c.475+6T>G (n.475+6T>G)
 gnomAD v4
15g.74892808T=CA2187896896MPIc.487+6T= (n.487+6T=)
c.337+6T= (n.337+6T=)
c.*383+6T= (n.*383+6T=)
c.427+6T= (n.427+6T=)
c.255+1319T= (n.255+1319T=)
n.524T=
c.445+6T= (n.445+6T=)
c.448+6T= (n.448+6T=)
c.451+6T= (n.451+6T=)
n.602T=
c.397+6T= (n.397+6T=)
c.475+6T= (n.475+6T=)
15g.74892809T>CCA2629529697MPIc.487+7T>C (n.487+7T>C)
c.337+7T>C (n.337+7T>C)
c.*383+7T>C (n.*383+7T>C)
c.427+7T>C (n.427+7T>C)
c.255+1320T>C (n.255+1320T>C)
n.525T>C
c.445+7T>C (n.445+7T>C)
c.448+7T>C (n.448+7T>C)
c.451+7T>C (n.451+7T>C)
n.603T>C
c.397+7T>C (n.397+7T>C)
c.475+7T>C (n.475+7T>C)
 ClinVar gnomAD v4
15g.74892809T>GCA2629529696MPIc.487+7T>G (n.487+7T>G)
c.337+7T>G (n.337+7T>G)
c.*383+7T>G (n.*383+7T>G)
c.427+7T>G (n.427+7T>G)
c.255+1320T>G (n.255+1320T>G)
n.525T>G
c.445+7T>G (n.445+7T>G)
c.448+7T>G (n.448+7T>G)
c.451+7T>G (n.451+7T>G)
n.603T>G
c.397+7T>G (n.397+7T>G)
c.475+7T>G (n.475+7T>G)
 gnomAD v4
15g.74892810G>TCA2533167046MPIc.487+8G>T (n.487+8G>T)
c.337+8G>T (n.337+8G>T)
c.*383+8G>T (n.*383+8G>T)
c.427+8G>T (n.427+8G>T)
c.255+1321G>T (n.255+1321G>T)
n.526G>T
c.445+8G>T (n.445+8G>T)
c.448+8G>T (n.448+8G>T)
c.451+8G>T (n.451+8G>T)
n.604G>T
c.397+8G>T (n.397+8G>T)
c.475+8G>T (n.475+8G>T)
15g.74892812G>ACA2499223093MPIc.487+10G>A (n.487+10G>A)
c.337+10G>A (n.337+10G>A)
c.*383+10G>A (n.*383+10G>A)
c.427+10G>A (n.427+10G>A)
c.255+1323G>A (n.255+1323G>A)
n.528G>A
c.445+10G>A (n.445+10G>A)
c.448+10G>A (n.448+10G>A)
c.451+10G>A (n.451+10G>A)
n.606G>A
c.397+10G>A (n.397+10G>A)
c.475+10G>A (n.475+10G>A)
 ClinVar dbSNP gnomAD v4
15g.74892814A=CA2187896899MPIc.487+12A= (n.487+12A=)
c.337+12A= (n.337+12A=)
c.*383+12A= (n.*383+12A=)
c.427+12A= (n.427+12A=)
c.255+1325A= (n.255+1325A=)
n.530A=
c.445+12A= (n.445+12A=)
c.448+12A= (n.448+12A=)
c.451+12A= (n.451+12A=)
n.608A=
c.397+12A= (n.397+12A=)
c.475+12A= (n.475+12A=)
15g.74892814A>GCA2187896898MPIc.487+12A>G (n.487+12A>G)
c.337+12A>G (n.337+12A>G)
c.*383+12A>G (n.*383+12A>G)
c.427+12A>G (n.427+12A>G)
c.255+1325A>G (n.255+1325A>G)
n.530A>G
c.445+12A>G (n.445+12A>G)
c.448+12A>G (n.448+12A>G)
c.451+12A>G (n.451+12A>G)
n.608A>G
c.397+12A>G (n.397+12A>G)
c.475+12A>G (n.475+12A>G)
 ClinVar dbSNP gnomAD v4
15g.74892815G>CCA2187896901MPIc.487+13G>C (n.487+13G>C)
c.337+13G>C (n.337+13G>C)
c.*383+13G>C (n.*383+13G>C)
c.427+13G>C (n.427+13G>C)
c.255+1326G>C (n.255+1326G>C)
n.531G>C
c.445+13G>C (n.445+13G>C)
c.448+13G>C (n.448+13G>C)
c.451+13G>C (n.451+13G>C)
n.609G>C
c.397+13G>C (n.397+13G>C)
c.475+13G>C (n.475+13G>C)
 dbSNP
15g.74892815G=CA2187896900MPIc.487+13G= (n.487+13G=)
c.337+13G= (n.337+13G=)
c.*383+13G= (n.*383+13G=)
c.427+13G= (n.427+13G=)
c.255+1326G= (n.255+1326G=)
n.531G=
c.445+13G= (n.445+13G=)
c.448+13G= (n.448+13G=)
c.451+13G= (n.451+13G=)
n.609G=
c.397+13G= (n.397+13G=)
c.475+13G= (n.475+13G=)
15g.74892816A=CA2187896903MPIc.487+14A= (n.487+14A=)
c.337+14A= (n.337+14A=)
c.*383+14A= (n.*383+14A=)
c.427+14A= (n.427+14A=)
c.255+1327A= (n.255+1327A=)
n.532A=
c.445+14A= (n.445+14A=)
c.448+14A= (n.448+14A=)
c.451+14A= (n.451+14A=)
n.610A=
c.397+14A= (n.397+14A=)
c.475+14A= (n.475+14A=)
15g.74892816A>CCA619126283MPIc.487+14A>C (n.487+14A>C)
c.337+14A>C (n.337+14A>C)
c.*383+14A>C (n.*383+14A>C)
c.427+14A>C (n.427+14A>C)
c.255+1327A>C (n.255+1327A>C)
n.532A>C
c.445+14A>C (n.445+14A>C)
c.448+14A>C (n.448+14A>C)
c.451+14A>C (n.451+14A>C)
n.610A>C
c.397+14A>C (n.397+14A>C)
c.475+14A>C (n.475+14A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74892817A>GCA2629529704MPIc.487+15A>G (n.487+15A>G)
c.337+15A>G (n.337+15A>G)
c.*383+15A>G (n.*383+15A>G)
c.427+15A>G (n.427+15A>G)
c.255+1328A>G (n.255+1328A>G)
n.533A>G
c.445+15A>G (n.445+15A>G)
c.448+15A>G (n.448+15A>G)
c.451+15A>G (n.451+15A>G)
n.611A>G
c.397+15A>G (n.397+15A>G)
c.475+15A>G (n.475+15A>G)
 gnomAD v4
15g.74892818T>CCA619126285MPIc.487+16T>C (n.487+16T>C)
c.337+16T>C (n.337+16T>C)
c.*383+16T>C (n.*383+16T>C)
c.427+16T>C (n.427+16T>C)
c.255+1329T>C (n.255+1329T>C)
n.534T>C
c.445+16T>C (n.445+16T>C)
c.448+16T>C (n.448+16T>C)
c.451+16T>C (n.451+16T>C)
n.612T>C
c.397+16T>C (n.397+16T>C)
c.475+16T>C (n.475+16T>C)
 dbSNP gnomAD v2 gnomAD v4
15g.74892818T>GCA2629529707MPIc.487+16T>G (n.487+16T>G)
c.337+16T>G (n.337+16T>G)
c.*383+16T>G (n.*383+16T>G)
c.427+16T>G (n.427+16T>G)
c.255+1329T>G (n.255+1329T>G)
n.534T>G
c.445+16T>G (n.445+16T>G)
c.448+16T>G (n.448+16T>G)
c.451+16T>G (n.451+16T>G)
n.612T>G
c.397+16T>G (n.397+16T>G)
c.475+16T>G (n.475+16T>G)
 gnomAD v4
15g.74892818T=CA2187896904MPIc.487+16T= (n.487+16T=)
c.337+16T= (n.337+16T=)
c.*383+16T= (n.*383+16T=)
c.427+16T= (n.427+16T=)
c.255+1329T= (n.255+1329T=)
n.534T=
c.445+16T= (n.445+16T=)
c.448+16T= (n.448+16T=)
c.451+16T= (n.451+16T=)
n.612T=
c.397+16T= (n.397+16T=)
c.475+16T= (n.475+16T=)
15g.74892819G>ACA619126288MPIc.487+17G>A (n.487+17G>A)
c.337+17G>A (n.337+17G>A)
c.*383+17G>A (n.*383+17G>A)
c.427+17G>A (n.427+17G>A)
c.255+1330G>A (n.255+1330G>A)
n.535G>A
c.445+17G>A (n.445+17G>A)
c.448+17G>A (n.448+17G>A)
c.451+17G>A (n.451+17G>A)
n.613G>A
c.397+17G>A (n.397+17G>A)
c.475+17G>A (n.475+17G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74892819G=CA2187896906MPIc.487+17G= (n.487+17G=)
c.337+17G= (n.337+17G=)
c.*383+17G= (n.*383+17G=)
c.427+17G= (n.427+17G=)
c.255+1330G= (n.255+1330G=)
n.535G=
c.445+17G= (n.445+17G=)
c.448+17G= (n.448+17G=)
c.451+17G= (n.451+17G=)
n.613G=
c.397+17G= (n.397+17G=)
c.475+17G= (n.475+17G=)
15g.74892821T>CCA272823289MPIc.487+19T>C (n.487+19T>C)
c.337+19T>C (n.337+19T>C)
c.*383+19T>C (n.*383+19T>C)
c.427+19T>C (n.427+19T>C)
c.255+1332T>C (n.255+1332T>C)
n.537T>C
c.445+19T>C (n.445+19T>C)
c.448+19T>C (n.448+19T>C)
c.451+19T>C (n.451+19T>C)
n.615T>C
c.397+19T>C (n.397+19T>C)
c.475+19T>C (n.475+19T>C)
 dbSNP
15g.74892821T=CA2187896907MPIc.487+19T= (n.487+19T=)
c.337+19T= (n.337+19T=)
c.*383+19T= (n.*383+19T=)
c.427+19T= (n.427+19T=)
c.255+1332T= (n.255+1332T=)
n.537T=
c.445+19T= (n.445+19T=)
c.448+19T= (n.448+19T=)
c.451+19T= (n.451+19T=)
n.615T=
c.397+19T= (n.397+19T=)
c.475+19T= (n.475+19T=)
15g.74892822G>ACA2629529712MPIc.487+20G>A (n.487+20G>A)
c.337+20G>A (n.337+20G>A)
c.*383+20G>A (n.*383+20G>A)
c.427+20G>A (n.427+20G>A)
c.255+1333G>A (n.255+1333G>A)
n.538G>A
c.445+20G>A (n.445+20G>A)
c.448+20G>A (n.448+20G>A)
c.451+20G>A (n.451+20G>A)
n.616G>A
c.397+20G>A (n.397+20G>A)
c.475+20G>A (n.475+20G>A)
 gnomAD v4
15g.74892825G>ACA619126291MPIc.487+23G>A (n.487+23G>A)
c.337+23G>A (n.337+23G>A)
c.*383+23G>A (n.*383+23G>A)
c.427+23G>A (n.427+23G>A)
c.255+1336G>A (n.255+1336G>A)
n.541G>A
c.445+23G>A (n.445+23G>A)
c.448+23G>A (n.448+23G>A)
c.451+23G>A (n.451+23G>A)
n.619G>A
c.397+23G>A (n.397+23G>A)
c.475+23G>A (n.475+23G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.74892825G=CA2187896911MPIc.487+23G= (n.487+23G=)
c.337+23G= (n.337+23G=)
c.*383+23G= (n.*383+23G=)
c.427+23G= (n.427+23G=)
c.255+1336G= (n.255+1336G=)
n.541G=
c.445+23G= (n.445+23G=)
c.448+23G= (n.448+23G=)
c.451+23G= (n.451+23G=)
n.619G=
c.397+23G= (n.397+23G=)
c.475+23G= (n.475+23G=)
15g.74892826G>CCA619126293MPIc.487+24G>C (n.487+24G>C)
c.337+24G>C (n.337+24G>C)
c.*383+24G>C (n.*383+24G>C)
c.427+24G>C (n.427+24G>C)
c.255+1337G>C (n.255+1337G>C)
n.542G>C
c.445+24G>C (n.445+24G>C)
c.448+24G>C (n.448+24G>C)
c.451+24G>C (n.451+24G>C)
n.620G>C
c.397+24G>C (n.397+24G>C)
c.475+24G>C (n.475+24G>C)
 dbSNP gnomAD v2 gnomAD v4
15g.74892826G=CA2187896912MPIc.487+24G= (n.487+24G=)
c.337+24G= (n.337+24G=)
c.*383+24G= (n.*383+24G=)
c.427+24G= (n.427+24G=)
c.255+1337G= (n.255+1337G=)
n.542G=
c.445+24G= (n.445+24G=)
c.448+24G= (n.448+24G=)
c.451+24G= (n.451+24G=)
n.620G=
c.397+24G= (n.397+24G=)
c.475+24G= (n.475+24G=)
15g.74892828A=CA2187896914MPIc.487+26A= (n.487+26A=)
c.337+26A= (n.337+26A=)
c.*383+26A= (n.*383+26A=)
c.427+26A= (n.427+26A=)
c.255+1339A= (n.255+1339A=)
n.544A=
c.445+26A= (n.445+26A=)
c.448+26A= (n.448+26A=)
c.451+26A= (n.451+26A=)
n.622A=
c.397+26A= (n.397+26A=)
c.475+26A= (n.475+26A=)
15g.74892828A>GCA619126295MPIc.487+26A>G (n.487+26A>G)
c.337+26A>G (n.337+26A>G)
c.*383+26A>G (n.*383+26A>G)
c.427+26A>G (n.427+26A>G)
c.255+1339A>G (n.255+1339A>G)
n.544A>G
c.445+26A>G (n.445+26A>G)
c.448+26A>G (n.448+26A>G)
c.451+26A>G (n.451+26A>G)
n.622A>G
c.397+26A>G (n.397+26A>G)
c.475+26A>G (n.475+26A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.74892829T>CCA2575791678MPIc.487+27T>C (n.487+27T>C)
c.337+27T>C (n.337+27T>C)
c.*383+27T>C (n.*383+27T>C)
c.427+27T>C (n.427+27T>C)
c.255+1340T>C (n.255+1340T>C)
n.545T>C
c.445+27T>C (n.445+27T>C)
c.448+27T>C (n.448+27T>C)
c.451+27T>C (n.451+27T>C)
n.623T>C
c.397+27T>C (n.397+27T>C)
c.475+27T>C (n.475+27T>C)
15g.74892830G>ACA7662447MPIc.487+28G>A (n.487+28G>A)
c.337+28G>A (n.337+28G>A)
c.*383+28G>A (n.*383+28G>A)
c.427+28G>A (n.427+28G>A)
c.255+1341G>A (n.255+1341G>A)
n.546G>A
c.445+28G>A (n.445+28G>A)
c.448+28G>A (n.448+28G>A)
c.451+28G>A (n.451+28G>A)
n.624G>A
c.397+28G>A (n.397+28G>A)
c.475+28G>A (n.475+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892830G=CA2187896917MPIc.487+28G= (n.487+28G=)
c.337+28G= (n.337+28G=)
c.*383+28G= (n.*383+28G=)
c.427+28G= (n.427+28G=)
c.255+1341G= (n.255+1341G=)
n.546G=
c.445+28G= (n.445+28G=)
c.448+28G= (n.448+28G=)
c.451+28G= (n.451+28G=)
n.624G=
c.397+28G= (n.397+28G=)
c.475+28G= (n.475+28G=)
15g.74892831C>ACA619126298MPIc.487+29C>A (n.487+29C>A)
c.337+29C>A (n.337+29C>A)
c.*383+29C>A (n.*383+29C>A)
c.427+29C>A (n.427+29C>A)
c.255+1342C>A (n.255+1342C>A)
n.547C>A
c.445+29C>A (n.445+29C>A)
c.448+29C>A (n.448+29C>A)
c.451+29C>A (n.451+29C>A)
n.625C>A
c.397+29C>A (n.397+29C>A)
c.475+29C>A (n.475+29C>A)
 dbSNP gnomAD v2 gnomAD v4
15g.74892831C=CA2187896920MPIc.487+29C= (n.487+29C=)
c.337+29C= (n.337+29C=)
c.*383+29C= (n.*383+29C=)
c.427+29C= (n.427+29C=)
c.255+1342C= (n.255+1342C=)
n.547C=
c.445+29C= (n.445+29C=)
c.448+29C= (n.448+29C=)
c.451+29C= (n.451+29C=)
n.625C=
c.397+29C= (n.397+29C=)
c.475+29C= (n.475+29C=)
15g.74892831C>GCA2629529720MPIc.487+29C>G (n.487+29C>G)
c.337+29C>G (n.337+29C>G)
c.*383+29C>G (n.*383+29C>G)
c.427+29C>G (n.427+29C>G)
c.255+1342C>G (n.255+1342C>G)
n.547C>G
c.445+29C>G (n.445+29C>G)
c.448+29C>G (n.448+29C>G)
c.451+29C>G (n.451+29C>G)
n.625C>G
c.397+29C>G (n.397+29C>G)
c.475+29C>G (n.475+29C>G)
 gnomAD v4
15g.74892831C>TCA272823298MPIc.487+29C>T (n.487+29C>T)
c.337+29C>T (n.337+29C>T)
c.*383+29C>T (n.*383+29C>T)
c.427+29C>T (n.427+29C>T)
c.255+1342C>T (n.255+1342C>T)
n.547C>T
c.445+29C>T (n.445+29C>T)
c.448+29C>T (n.448+29C>T)
c.451+29C>T (n.451+29C>T)
n.625C>T
c.397+29C>T (n.397+29C>T)
c.475+29C>T (n.475+29C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.74892832G>ACA7662448MPIc.487+30G>A (n.487+30G>A)
c.337+30G>A (n.337+30G>A)
c.*383+30G>A (n.*383+30G>A)
c.427+30G>A (n.427+30G>A)
c.255+1343G>A (n.255+1343G>A)
n.548G>A
c.445+30G>A (n.445+30G>A)
c.448+30G>A (n.448+30G>A)
c.451+30G>A (n.451+30G>A)
n.626G>A
c.397+30G>A (n.397+30G>A)
c.475+30G>A (n.475+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74892832G>CCA715704106MPIc.487+30G>C (n.487+30G>C)
c.337+30G>C (n.337+30G>C)
c.*383+30G>C (n.*383+30G>C)
c.427+30G>C (n.427+30G>C)
c.255+1343G>C (n.255+1343G>C)
n.548G>C
c.445+30G>C (n.445+30G>C)
c.448+30G>C (n.448+30G>C)
c.451+30G>C (n.451+30G>C)
n.626G>C
c.397+30G>C (n.397+30G>C)
c.475+30G>C (n.475+30G>C)
 dbSNP gnomAD v3 gnomAD v4
15g.74892832G=CA2187896924MPIc.487+30G= (n.487+30G=)
c.337+30G= (n.337+30G=)
c.*383+30G= (n.*383+30G=)
c.427+30G= (n.427+30G=)
c.255+1343G= (n.255+1343G=)
n.548G=
c.445+30G= (n.445+30G=)
c.448+30G= (n.448+30G=)
c.451+30G= (n.451+30G=)
n.626G=
c.397+30G= (n.397+30G=)
c.475+30G= (n.475+30G=)
15g.74892832G>TCA2629529723MPIc.487+30G>T (n.487+30G>T)
c.337+30G>T (n.337+30G>T)
c.*383+30G>T (n.*383+30G>T)
c.427+30G>T (n.427+30G>T)
c.255+1343G>T (n.255+1343G>T)
n.548G>T
c.445+30G>T (n.445+30G>T)
c.448+30G>T (n.448+30G>T)
c.451+30G>T (n.451+30G>T)
n.626G>T
c.397+30G>T (n.397+30G>T)
c.475+30G>T (n.475+30G>T)
 gnomAD v4

Number of alleles fetched