Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36246219T>ACA373418734CLTA,GNEc.521A>T (p.Asp174Val)
c.251A>T (p.Asp84Val)
c.428A>T (p.Asp143Val)
c.486-16979T>A (n.486-16979T>A)
c.413A>T (p.Asp138Val)
9g.36246219T>CCA373418738CLTA,GNEc.521A>G (p.Asp174Gly)
c.251A>G (p.Asp84Gly)
c.428A>G (p.Asp143Gly)
c.486-16979T>C (n.486-16979T>C)
c.413A>G (p.Asp138Gly)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
9g.36246219T>GCA373418736CLTA,GNEc.521A>C (p.Asp174Ala)
c.251A>C (p.Asp84Ala)
c.428A>C (p.Asp143Ala)
c.486-16979T>G (n.486-16979T>G)
c.413A>C (p.Asp138Ala)
9g.36246220C>ACA373418740CLTA,GNEc.520G>T (p.Asp174Tyr)
c.250G>T (p.Asp84Tyr)
c.427G>T (p.Asp143Tyr)
c.486-16978C>A (n.486-16978C>A)
c.412G>T (p.Asp138Tyr)
9g.36246220C>GCA373418742CLTA,GNEc.520G>C (p.Asp174His)
c.250G>C (p.Asp84His)
c.427G>C (p.Asp143His)
c.486-16978C>G (n.486-16978C>G)
c.412G>C (p.Asp138His)
9g.36246220C>TCA373418744CLTA,GNEc.520G>A (p.Asp174Asn)
c.250G>A (p.Asp84Asn)
c.427G>A (p.Asp143Asn)
c.486-16978C>T (n.486-16978C>T)
c.412G>A (p.Asp138Asn)
9g.36246221A>CCA373418746CLTA,GNEc.519T>G (p.Ile173Met)
c.249T>G (p.Ile83Met)
c.426T>G (p.Ile142Met)
c.486-16977A>C (n.486-16977A>C)
c.411T>G (p.Ile137Met)
9g.36246221A>GCA464620002CLTA,GNEc.519T>C (p.Ile173=)
c.249T>C (p.Ile83=)
c.426T>C (p.Ile142=)
c.486-16977A>G (n.486-16977A>G)
c.411T>C (p.Ile137=)
9g.36246221A>TCA464620000CLTA,GNEc.519T>A (p.Ile173=)
c.249T>A (p.Ile83=)
c.426T>A (p.Ile142=)
c.486-16977A>T (n.486-16977A>T)
c.411T>A (p.Ile137=)
9g.36246222A=CA1846375443CLTA,GNEc.518T= (p.Ile173=)
c.248T= (p.Ile83=)
c.425T= (p.Ile142=)
c.486-16976A= (n.486-16976A=)
c.410T= (p.Ile137=)
9g.36246222A>CCA373418749CLTA,GNEc.518T>G (p.Ile173Ser)
c.248T>G (p.Ile83Ser)
c.425T>G (p.Ile142Ser)
c.486-16976A>C (n.486-16976A>C)
c.410T>G (p.Ile137Ser)
9g.36246222A>GCA373418750CLTA,GNEc.518T>C (p.Ile173Thr)
c.248T>C (p.Ile83Thr)
c.425T>C (p.Ile142Thr)
c.486-16976A>G (n.486-16976A>G)
c.410T>C (p.Ile137Thr)
 ClinVar dbSNP gnomAD v4
9g.36246222A>TCA373418752CLTA,GNEc.518T>A (p.Ile173Asn)
c.248T>A (p.Ile83Asn)
c.425T>A (p.Ile142Asn)
c.486-16976A>T (n.486-16976A>T)
c.410T>A (p.Ile137Asn)
9g.36246223T>ACA373418755CLTA,GNEc.517A>T (p.Ile173Phe)
c.247A>T (p.Ile83Phe)
c.424A>T (p.Ile142Phe)
c.486-16975T>A (n.486-16975T>A)
c.409A>T (p.Ile137Phe)
9g.36246223T>CCA373418756CLTA,GNEc.517A>G (p.Ile173Val)
c.247A>G (p.Ile83Val)
c.424A>G (p.Ile142Val)
c.486-16975T>C (n.486-16975T>C)
c.409A>G (p.Ile137Val)
9g.36246223T>GCA373418758CLTA,GNEc.517A>C (p.Ile173Leu)
c.247A>C (p.Ile83Leu)
c.424A>C (p.Ile142Leu)
c.486-16975T>G (n.486-16975T>G)
c.409A>C (p.Ile137Leu)
9g.36246224G>ACA464620007CLTA,GNEc.516C>T (p.Thr172=)
c.246C>T (p.Thr82=)
c.423C>T (p.Thr141=)
c.486-16974G>A (n.486-16974G>A)
c.408C>T (p.Thr136=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246224G>CCA464620009CLTA,GNEc.516C>G (p.Thr172=)
c.246C>G (p.Thr82=)
c.423C>G (p.Thr141=)
c.486-16974G>C (n.486-16974G>C)
c.408C>G (p.Thr136=)
9g.36246224G=CA1846375446CLTA,GNEc.516C= (p.Thr172=)
c.246C= (p.Thr82=)
c.423C= (p.Thr141=)
c.486-16974G= (n.486-16974G=)
c.408C= (p.Thr136=)
9g.36246224G>TCA464620008CLTA,GNEc.516C>A (p.Thr172=)
c.246C>A (p.Thr82=)
c.423C>A (p.Thr141=)
c.486-16974G>T (n.486-16974G>T)
c.408C>A (p.Thr136=)
9g.36246225G>ACA373418759CLTA,GNEc.515C>T (p.Thr172Ile)
c.245C>T (p.Thr82Ile)
c.422C>T (p.Thr141Ile)
c.486-16973G>A (n.486-16973G>A)
c.407C>T (p.Thr136Ile)
9g.36246225G>CCA373418761CLTA,GNEc.515C>G (p.Thr172Ser)
c.245C>G (p.Thr82Ser)
c.422C>G (p.Thr141Ser)
c.486-16973G>C (n.486-16973G>C)
c.407C>G (p.Thr136Ser)
9g.36246225G>TCA373418763CLTA,GNEc.515C>A (p.Thr172Asn)
c.245C>A (p.Thr82Asn)
c.422C>A (p.Thr141Asn)
c.486-16973G>T (n.486-16973G>T)
c.407C>A (p.Thr136Asn)
9g.36246226T>ACA373418776CLTA,GNEc.514A>T (p.Thr172Ser)
c.244A>T (p.Thr82Ser)
c.421A>T (p.Thr141Ser)
c.486-16972T>A (n.486-16972T>A)
c.406A>T (p.Thr136Ser)
9g.36246226T>CCA373418766CLTA,GNEc.514A>G (p.Thr172Ala)
c.244A>G (p.Thr82Ala)
c.421A>G (p.Thr141Ala)
c.486-16972T>C (n.486-16972T>C)
c.406A>G (p.Thr136Ala)
9g.36246226T>GCA373418768CLTA,GNEc.514A>C (p.Thr172Pro)
c.244A>C (p.Thr82Pro)
c.421A>C (p.Thr141Pro)
c.486-16972T>G (n.486-16972T>G)
c.406A>C (p.Thr136Pro)
9g.36246227C>ACA464620012CLTA,GNEc.513G>T (p.Gly171=)
c.243G>T (p.Gly81=)
c.420G>T (p.Gly140=)
c.486-16971C>A (n.486-16971C>A)
c.405G>T (p.Gly135=)
9g.36246227C>GCA464620013CLTA,GNEc.513G>C (p.Gly171=)
c.243G>C (p.Gly81=)
c.420G>C (p.Gly140=)
c.486-16971C>G (n.486-16971C>G)
c.405G>C (p.Gly135=)
9g.36246227C>TCA464620014CLTA,GNEc.513G>A (p.Gly171=)
c.243G>A (p.Gly81=)
c.420G>A (p.Gly140=)
c.486-16971C>T (n.486-16971C>T)
c.405G>A (p.Gly135=)
 ClinVar dbSNP
9g.36246228C>ACA373418780CLTA,GNEc.512G>T (p.Gly171Val)
c.242G>T (p.Gly81Val)
c.419G>T (p.Gly140Val)
c.486-16970C>A (n.486-16970C>A)
c.404G>T (p.Gly135Val)
9g.36246228C>GCA373418783CLTA,GNEc.512G>C (p.Gly171Ala)
c.242G>C (p.Gly81Ala)
c.419G>C (p.Gly140Ala)
c.486-16970C>G (n.486-16970C>G)
c.404G>C (p.Gly135Ala)
9g.36246228C>TCA373418786CLTA,GNEc.512G>A (p.Gly171Glu)
c.242G>A (p.Gly81Glu)
c.419G>A (p.Gly140Glu)
c.486-16970C>T (n.486-16970C>T)
c.404G>A (p.Gly135Glu)
 gnomAD v4
9g.36246229C>ACA373418788CLTA,GNEc.511G>T (p.Gly171Trp)
c.241G>T (p.Gly81Trp)
c.418G>T (p.Gly140Trp)
c.486-16969C>A (n.486-16969C>A)
c.403G>T (p.Gly135Trp)
9g.36246229C>GCA373418791CLTA,GNEc.511G>C (p.Gly171Arg)
c.241G>C (p.Gly81Arg)
c.418G>C (p.Gly140Arg)
c.486-16969C>G (n.486-16969C>G)
c.403G>C (p.Gly135Arg)
9g.36246229C>TCA373418793CLTA,GNEc.511G>A (p.Gly171Arg)
c.241G>A (p.Gly81Arg)
c.418G>A (p.Gly140Arg)
c.486-16969C>T (n.486-16969C>T)
c.403G>A (p.Gly135Arg)
9g.36246230A=CA1846375452CLTA,GNEc.510T= (p.Ser170=)
c.240T= (p.Ser80=)
c.417T= (p.Ser139=)
c.486-16968A= (n.486-16968A=)
c.402T= (p.Ser134=)
9g.36246230A>CCA373418797CLTA,GNEc.510T>G (p.Ser170Arg)
c.240T>G (p.Ser80Arg)
c.417T>G (p.Ser139Arg)
c.486-16968A>C (n.486-16968A>C)
c.402T>G (p.Ser134Arg)
9g.36246230A>GCA464620017CLTA,GNEc.510T>C (p.Ser170=)
c.240T>C (p.Ser80=)
c.417T>C (p.Ser139=)
c.486-16968A>G (n.486-16968A>G)
c.402T>C (p.Ser134=)
 ClinVar dbSNP gnomAD v4
9g.36246230A>TCA373418800CLTA,GNEc.510T>A (p.Ser170Arg)
c.240T>A (p.Ser80Arg)
c.417T>A (p.Ser139Arg)
c.486-16968A>T (n.486-16968A>T)
c.402T>A (p.Ser134Arg)
9g.36246231C>ACA373418804CLTA,GNEc.509G>T (p.Ser170Ile)
c.239G>T (p.Ser80Ile)
c.416G>T (p.Ser139Ile)
c.486-16967C>A (n.486-16967C>A)
c.401G>T (p.Ser134Ile)
9g.36246231C>GCA373418807CLTA,GNEc.509G>C (p.Ser170Thr)
c.239G>C (p.Ser80Thr)
c.416G>C (p.Ser139Thr)
c.486-16967C>G (n.486-16967C>G)
c.401G>C (p.Ser134Thr)
9g.36246231C>TCA373418811CLTA,GNEc.509G>A (p.Ser170Asn)
c.239G>A (p.Ser80Asn)
c.416G>A (p.Ser139Asn)
c.486-16967C>T (n.486-16967C>T)
c.401G>A (p.Ser134Asn)
 gnomAD v4
9g.36246232T>ACA373418821CLTA,GNEc.508A>T (p.Ser170Cys)
c.238A>T (p.Ser80Cys)
c.415A>T (p.Ser139Cys)
c.486-16966T>A (n.486-16966T>A)
c.400A>T (p.Ser134Cys)
9g.36246232T>CCA373418817CLTA,GNEc.508A>G (p.Ser170Gly)
c.238A>G (p.Ser80Gly)
c.415A>G (p.Ser139Gly)
c.486-16966T>C (n.486-16966T>C)
c.400A>G (p.Ser134Gly)
9g.36246232T>GCA373418815CLTA,GNEc.508A>C (p.Ser170Arg)
c.238A>C (p.Ser80Arg)
c.415A>C (p.Ser139Arg)
c.486-16966T>G (n.486-16966T>G)
c.400A>C (p.Ser134Arg)
9g.36246233G>ACA464620024CLTA,GNEc.507C>T (p.Val169=)
c.237C>T (p.Val79=)
c.414C>T (p.Val138=)
c.486-16965G>A (n.486-16965G>A)
c.399C>T (p.Val133=)
9g.36246233G>CCA464620026CLTA,GNEc.507C>G (p.Val169=)
c.237C>G (p.Val79=)
c.414C>G (p.Val138=)
c.486-16965G>C (n.486-16965G>C)
c.399C>G (p.Val133=)
9g.36246233G>TCA464620027CLTA,GNEc.507C>A (p.Val169=)
c.237C>A (p.Val79=)
c.414C>A (p.Val138=)
c.486-16965G>T (n.486-16965G>T)
c.399C>A (p.Val133=)
9g.36246234A>CCA373418824CLTA,GNEc.506T>G (p.Val169Gly)
c.236T>G (p.Val79Gly)
c.413T>G (p.Val138Gly)
c.486-16964A>C (n.486-16964A>C)
c.398T>G (p.Val133Gly)
9g.36246234A>GCA373418826CLTA,GNEc.506T>C (p.Val169Ala)
c.236T>C (p.Val79Ala)
c.413T>C (p.Val138Ala)
c.486-16964A>G (n.486-16964A>G)
c.398T>C (p.Val133Ala)
9g.36246234A>TCA373418829CLTA,GNEc.506T>A (p.Val169Asp)
c.236T>A (p.Val79Asp)
c.413T>A (p.Val138Asp)
c.486-16964A>T (n.486-16964A>T)
c.398T>A (p.Val133Asp)
9g.36246235C>ACA373418835CLTA,GNEc.505G>T (p.Val169Phe)
c.235G>T (p.Val79Phe)
c.412G>T (p.Val138Phe)
c.486-16963C>A (n.486-16963C>A)
c.397G>T (p.Val133Phe)
9g.36246235C>GCA373418836CLTA,GNEc.505G>C (p.Val169Leu)
c.235G>C (p.Val79Leu)
c.412G>C (p.Val138Leu)
c.486-16963C>G (n.486-16963C>G)
c.397G>C (p.Val133Leu)
9g.36246235C>TCA373418840CLTA,GNEc.505G>A (p.Val169Ile)
c.235G>A (p.Val79Ile)
c.412G>A (p.Val138Ile)
c.486-16963C>T (n.486-16963C>T)
c.397G>A (p.Val133Ile)
9g.36246236T>ACA373418855CLTA,GNEc.504A>T (p.Glu168Asp)
c.234A>T (p.Glu78Asp)
c.411A>T (p.Glu137Asp)
c.486-16962T>A (n.486-16962T>A)
c.396A>T (p.Glu132Asp)
9g.36246236T>CCA464620032CLTA,GNEc.504A>G (p.Glu168=)
c.234A>G (p.Glu78=)
c.411A>G (p.Glu137=)
c.486-16962T>C (n.486-16962T>C)
c.396A>G (p.Glu132=)
 dbSNP
9g.36246236T>GCA373418845CLTA,GNEc.504A>C (p.Glu168Asp)
c.234A>C (p.Glu78Asp)
c.411A>C (p.Glu137Asp)
c.486-16962T>G (n.486-16962T>G)
c.396A>C (p.Glu132Asp)
9g.36246236T=CA1846320787CLTA,GNEc.504A= (p.Glu168=)
c.234A= (p.Glu78=)
c.411A= (p.Glu137=)
c.486-16962T= (n.486-16962T=)
c.396A= (p.Glu132=)
9g.36246237T>ACA373418857CLTA,GNEc.503A>T (p.Glu168Val)
c.233A>T (p.Glu78Val)
c.410A>T (p.Glu137Val)
c.486-16961T>A (n.486-16961T>A)
c.395A>T (p.Glu132Val)
9g.36246237T>CCA373418860CLTA,GNEc.503A>G (p.Glu168Gly)
c.233A>G (p.Glu78Gly)
c.410A>G (p.Glu137Gly)
c.486-16961T>C (n.486-16961T>C)
c.395A>G (p.Glu132Gly)
9g.36246237T>GCA373418862CLTA,GNEc.503A>C (p.Glu168Ala)
c.233A>C (p.Glu78Ala)
c.410A>C (p.Glu137Ala)
c.486-16961T>G (n.486-16961T>G)
c.395A>C (p.Glu132Ala)
9g.36246238C>ACA373418865CLTA,GNEc.502G>T (p.Glu168Ter)
c.232G>T (p.Glu78Ter)
c.409G>T (p.Glu137Ter)
c.486-16960C>A (n.486-16960C>A)
c.394G>T (p.Glu132Ter)
9g.36246238C>GCA373418868CLTA,GNEc.502G>C (p.Glu168Gln)
c.232G>C (p.Glu78Gln)
c.409G>C (p.Glu137Gln)
c.486-16960C>G (n.486-16960C>G)
c.394G>C (p.Glu132Gln)
9g.36246238C>TCA373418873CLTA,GNEc.502G>A (p.Glu168Lys)
c.232G>A (p.Glu78Lys)
c.409G>A (p.Glu137Lys)
c.486-16960C>T (n.486-16960C>T)
c.394G>A (p.Glu132Lys)
9g.36246241delCA2579338612CLTA,GNEc.502del (p.Glu168LysfsTer14)
c.232del (p.Glu78LysfsTer14)
c.409del (p.Glu137LysfsTer14)
c.486-16957del (n.486-16957del)
c.394del (p.Glu132LysfsTer14)
9g.36246239C>ACA464620040CLTA,GNEc.501G>T (p.Gly167=)
c.231G>T (p.Gly77=)
c.408G>T (p.Gly136=)
c.486-16959C>A (n.486-16959C>A)
c.393G>T (p.Gly131=)
9g.36246239C>GCA464620046CLTA,GNEc.501G>C (p.Gly167=)
c.231G>C (p.Gly77=)
c.408G>C (p.Gly136=)
c.486-16959C>G (n.486-16959C>G)
c.393G>C (p.Gly131=)
9g.36246239C>TCA464620045CLTA,GNEc.501G>A (p.Gly167=)
c.231G>A (p.Gly77=)
c.408G>A (p.Gly136=)
c.486-16959C>T (n.486-16959C>T)
c.393G>A (p.Gly131=)
9g.36246240C>ACA373418878CLTA,GNEc.500G>T (p.Gly167Val)
c.230G>T (p.Gly77Val)
c.407G>T (p.Gly136Val)
c.486-16958C>A (n.486-16958C>A)
c.392G>T (p.Gly131Val)
9g.36246240C=CA1846320795CLTA,GNEc.500G= (p.Gly167=)
c.230G= (p.Gly77=)
c.407G= (p.Gly136=)
c.486-16958C= (n.486-16958C=)
c.392G= (p.Gly131=)
9g.36246240C>GCA373418884CLTA,GNEc.500G>C (p.Gly167Ala)
c.230G>C (p.Gly77Ala)
c.407G>C (p.Gly136Ala)
c.486-16958C>G (n.486-16958C>G)
c.392G>C (p.Gly131Ala)
9g.36246240C>TCA373418882CLTA,GNEc.500G>A (p.Gly167Glu)
c.230G>A (p.Gly77Glu)
c.407G>A (p.Gly136Glu)
c.486-16958C>T (n.486-16958C>T)
c.392G>A (p.Gly131Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.36246241C>ACA373418899CLTA,GNEc.499G>T (p.Gly167Trp)
c.229G>T (p.Gly77Trp)
c.406G>T (p.Gly136Trp)
c.486-16957C>A (n.486-16957C>A)
c.391G>T (p.Gly131Trp)
9g.36246241C>GCA373418902CLTA,GNEc.499G>C (p.Gly167Arg)
c.229G>C (p.Gly77Arg)
c.406G>C (p.Gly136Arg)
c.486-16957C>G (n.486-16957C>G)
c.391G>C (p.Gly131Arg)
9g.36246241C>TCA373418906CLTA,GNEc.499G>A (p.Gly167Arg)
c.229G>A (p.Gly77Arg)
c.406G>A (p.Gly136Arg)
c.486-16957C>T (n.486-16957C>T)
c.391G>A (p.Gly131Arg)
9g.36246242A=CA1846320802CLTA,GNEc.498T= (p.Gly166=)
c.228T= (p.Gly76=)
c.405T= (p.Gly135=)
c.486-16956A= (n.486-16956A=)
c.390T= (p.Gly130=)
9g.36246242A>CCA464620052CLTA,GNEc.498T>G (p.Gly166=)
c.228T>G (p.Gly76=)
c.405T>G (p.Gly135=)
c.486-16956A>C (n.486-16956A>C)
c.390T>G (p.Gly130=)
 dbSNP
9g.36246242A>GCA464620053CLTA,GNEc.498T>C (p.Gly166=)
c.228T>C (p.Gly76=)
c.405T>C (p.Gly135=)
c.486-16956A>G (n.486-16956A>G)
c.390T>C (p.Gly130=)
9g.36246242A>TCA464620054CLTA,GNEc.498T>A (p.Gly166=)
c.228T>A (p.Gly76=)
c.405T>A (p.Gly135=)
c.486-16956A>T (n.486-16956A>T)
c.390T>A (p.Gly130=)
9g.36246243C>ACA373418912CLTA,GNEc.497G>T (p.Gly166Val)
c.227G>T (p.Gly76Val)
c.404G>T (p.Gly135Val)
c.486-16955C>A (n.486-16955C>A)
c.389G>T (p.Gly130Val)
 ClinVar dbSNP
9g.36246243C=CA1846320807CLTA,GNEc.497G= (p.Gly166=)
c.227G= (p.Gly76=)
c.404G= (p.Gly135=)
c.486-16955C= (n.486-16955C=)
c.389G= (p.Gly130=)
9g.36246243C>GCA373418914CLTA,GNEc.497G>C (p.Gly166Ala)
c.227G>C (p.Gly76Ala)
c.404G>C (p.Gly135Ala)
c.486-16955C>G (n.486-16955C>G)
c.389G>C (p.Gly130Ala)
9g.36246243C>TCA373418916CLTA,GNEc.497G>A (p.Gly166Asp)
c.227G>A (p.Gly76Asp)
c.404G>A (p.Gly135Asp)
c.486-16955C>T (n.486-16955C>T)
c.389G>A (p.Gly130Asp)
 gnomAD v4
9g.36246244C>ACA373418921CLTA,GNEc.496G>T (p.Gly166Cys)
c.226G>T (p.Gly76Cys)
c.403G>T (p.Gly135Cys)
c.486-16954C>A (n.486-16954C>A)
c.388G>T (p.Gly130Cys)
9g.36246244C>GCA373418923CLTA,GNEc.496G>C (p.Gly166Arg)
c.226G>C (p.Gly76Arg)
c.403G>C (p.Gly135Arg)
c.486-16954C>G (n.486-16954C>G)
c.388G>C (p.Gly130Arg)
9g.36246244C>TCA373418926CLTA,GNEc.496G>A (p.Gly166Ser)
c.226G>A (p.Gly76Ser)
c.403G>A (p.Gly135Ser)
c.486-16954C>T (n.486-16954C>T)
c.388G>A (p.Gly130Ser)
9g.36246245T>ACA373418936CLTA,GNEc.495A>T (p.Glu165Asp)
c.225A>T (p.Glu75Asp)
c.402A>T (p.Glu134Asp)
c.486-16953T>A (n.486-16953T>A)
c.387A>T (p.Glu129Asp)
9g.36246245T>CCA464620056CLTA,GNEc.495A>G (p.Glu165=)
c.225A>G (p.Glu75=)
c.402A>G (p.Glu134=)
c.486-16953T>C (n.486-16953T>C)
c.387A>G (p.Glu129=)
9g.36246245T>GCA373418939CLTA,GNEc.495A>C (p.Glu165Asp)
c.225A>C (p.Glu75Asp)
c.402A>C (p.Glu134Asp)
c.486-16953T>G (n.486-16953T>G)
c.387A>C (p.Glu129Asp)
9g.36246246T>ACA373418944CLTA,GNEc.494A>T (p.Glu165Val)
c.224A>T (p.Glu75Val)
c.401A>T (p.Glu134Val)
c.486-16952T>A (n.486-16952T>A)
c.386A>T (p.Glu129Val)
9g.36246246T>CCA373418949CLTA,GNEc.494A>G (p.Glu165Gly)
c.224A>G (p.Glu75Gly)
c.401A>G (p.Glu134Gly)
c.486-16952T>C (n.486-16952T>C)
c.386A>G (p.Glu129Gly)
9g.36246246T>GCA373418947CLTA,GNEc.494A>C (p.Glu165Ala)
c.224A>C (p.Glu75Ala)
c.401A>C (p.Glu134Ala)
c.486-16952T>G (n.486-16952T>G)
c.386A>C (p.Glu129Ala)
9g.36246247C>ACA373418954CLTA,GNEc.493G>T (p.Glu165Ter)
c.223G>T (p.Glu75Ter)
c.400G>T (p.Glu134Ter)
c.486-16951C>A (n.486-16951C>A)
c.385G>T (p.Glu129Ter)
9g.36246247C>GCA373418958CLTA,GNEc.493G>C (p.Glu165Gln)
c.223G>C (p.Glu75Gln)
c.400G>C (p.Glu134Gln)
c.486-16951C>G (n.486-16951C>G)
c.385G>C (p.Glu129Gln)
9g.36246247C>TCA373418964CLTA,GNEc.493G>A (p.Glu165Lys)
c.223G>A (p.Glu75Lys)
c.400G>A (p.Glu134Lys)
c.486-16951C>T (n.486-16951C>T)
c.385G>A (p.Glu129Lys)
9g.36246248A=CA1846320811CLTA,GNEc.492T= (p.Ile164=)
c.222T= (p.Ile74=)
c.399T= (p.Ile133=)
c.486-16950A= (n.486-16950A=)
c.384T= (p.Ile128=)
9g.36246248A>CCA373418967CLTA,GNEc.492T>G (p.Ile164Met)
c.222T>G (p.Ile74Met)
c.399T>G (p.Ile133Met)
c.486-16950A>C (n.486-16950A>C)
c.384T>G (p.Ile128Met)
9g.36246248A>GCA464620061CLTA,GNEc.492T>C (p.Ile164=)
c.222T>C (p.Ile74=)
c.399T>C (p.Ile133=)
c.486-16950A>G (n.486-16950A>G)
c.384T>C (p.Ile128=)
9g.36246248A>TCA464620062CLTA,GNEc.492T>A (p.Ile164=)
c.222T>A (p.Ile74=)
c.399T>A (p.Ile133=)
c.486-16950A>T (n.486-16950A>T)
c.384T>A (p.Ile128=)
9g.36246249A=CA1846320830CLTA,GNEc.491T= (p.Ile164=)
c.221T= (p.Ile74=)
c.398T= (p.Ile133=)
c.486-16949A= (n.486-16949A=)
c.383T= (p.Ile128=)
9g.36246249A>CCA373418971CLTA,GNEc.491T>G (p.Ile164Ser)
c.221T>G (p.Ile74Ser)
c.398T>G (p.Ile133Ser)
c.486-16949A>C (n.486-16949A>C)
c.383T>G (p.Ile128Ser)
9g.36246249A>GCA5056731CLTA,GNEc.491T>C (p.Ile164Thr)
c.221T>C (p.Ile74Thr)
c.398T>C (p.Ile133Thr)
c.486-16949A>G (n.486-16949A>G)
c.383T>C (p.Ile128Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246249A>TCA373418976CLTA,GNEc.491T>A (p.Ile164Asn)
c.221T>A (p.Ile74Asn)
c.398T>A (p.Ile133Asn)
c.486-16949A>T (n.486-16949A>T)
c.383T>A (p.Ile128Asn)
9g.36246249_36246250dupCA1139660956CLTA,GNEc.490_491dup (p.Glu165LeufsTer18)
c.220_221dup (p.Glu75LeufsTer18)
c.397_398dup (p.Glu134LeufsTer18)
c.486-16949_486-16948dup (n.486-16949_486-16948dup)
c.382_383dup (p.Glu129LeufsTer18)
 ClinVar dbSNP
9g.36246250T>ACA373418989CLTA,GNEc.490A>T (p.Ile164Phe)
c.220A>T (p.Ile74Phe)
c.397A>T (p.Ile133Phe)
c.486-16948T>A (n.486-16948T>A)
c.382A>T (p.Ile128Phe)
9g.36246250T>CCA373418980CLTA,GNEc.490A>G (p.Ile164Val)
c.220A>G (p.Ile74Val)
c.397A>G (p.Ile133Val)
c.486-16948T>C (n.486-16948T>C)
c.382A>G (p.Ile128Val)
9g.36246250T>GCA373418985CLTA,GNEc.490A>C (p.Ile164Leu)
c.220A>C (p.Ile74Leu)
c.397A>C (p.Ile133Leu)
c.486-16948T>G (n.486-16948T>G)
c.382A>C (p.Ile128Leu)
9g.36246251G>ACA464620067CLTA,GNEc.489C>T (p.His163=)
c.219C>T (p.His73=)
c.396C>T (p.His132=)
c.486-16947G>A (n.486-16947G>A)
c.381C>T (p.His127=)
 dbSNP
9g.36246251G>CCA373418993CLTA,GNEc.489C>G (p.His163Gln)
c.219C>G (p.His73Gln)
c.396C>G (p.His132Gln)
c.486-16947G>C (n.486-16947G>C)
c.381C>G (p.His127Gln)
9g.36246251G=CA1846320835CLTA,GNEc.489C= (p.His163=)
c.219C= (p.His73=)
c.396C= (p.His132=)
c.486-16947G= (n.486-16947G=)
c.381C= (p.His127=)
9g.36246251G>TCA373418995CLTA,GNEc.489C>A (p.His163Gln)
c.219C>A (p.His73Gln)
c.396C>A (p.His132Gln)
c.486-16947G>T (n.486-16947G>T)
c.381C>A (p.His127Gln)
 gnomAD v4
9g.36246252T>ACA373419000CLTA,GNEc.488A>T (p.His163Leu)
c.218A>T (p.His73Leu)
c.395A>T (p.His132Leu)
c.486-16946T>A (n.486-16946T>A)
c.380A>T (p.His127Leu)
 gnomAD v4
9g.36246252T>CCA373419005CLTA,GNEc.488A>G (p.His163Arg)
c.218A>G (p.His73Arg)
c.395A>G (p.His132Arg)
c.486-16946T>C (n.486-16946T>C)
c.380A>G (p.His127Arg)
9g.36246252T>GCA373419008CLTA,GNEc.488A>C (p.His163Pro)
c.218A>C (p.His73Pro)
c.395A>C (p.His132Pro)
c.486-16946T>G (n.486-16946T>G)
c.380A>C (p.His127Pro)
9g.36246253G>ACA373419018CLTA,GNEc.487C>T (p.His163Tyr)
c.217C>T (p.His73Tyr)
c.394C>T (p.His132Tyr)
c.486-16945G>A (n.486-16945G>A)
c.379C>T (p.His127Tyr)
 COSMIC COSMIC COSMIC
9g.36246253G>CCA373419012CLTA,GNEc.487C>G (p.His163Asp)
c.217C>G (p.His73Asp)
c.394C>G (p.His132Asp)
c.486-16945G>C (n.486-16945G>C)
c.379C>G (p.His127Asp)
9g.36246253G>TCA373419015CLTA,GNEc.487C>A (p.His163Asn)
c.217C>A (p.His73Asn)
c.394C>A (p.His132Asn)
c.486-16945G>T (n.486-16945G>T)
c.379C>A (p.His127Asn)
9g.36246254A>CCA464620069CLTA,GNEc.486T>G (p.Leu162=)
c.216T>G (p.Leu72=)
c.393T>G (p.Leu131=)
c.486-16944A>C (n.486-16944A>C)
c.378T>G (p.Leu126=)
9g.36246254A>GCA464620070CLTA,GNEc.486T>C (p.Leu162=)
c.216T>C (p.Leu72=)
c.393T>C (p.Leu131=)
c.486-16944A>G (n.486-16944A>G)
c.378T>C (p.Leu126=)
9g.36246254A>TCA464620072CLTA,GNEc.486T>A (p.Leu162=)
c.216T>A (p.Leu72=)
c.393T>A (p.Leu131=)
c.486-16944A>T (n.486-16944A>T)
c.378T>A (p.Leu126=)
 gnomAD v4
9g.36246255A>CCA373419025CLTA,GNEc.485T>G (p.Leu162Arg)
c.215T>G (p.Leu72Arg)
c.392T>G (p.Leu131Arg)
c.486-16943A>C (n.486-16943A>C)
c.377T>G (p.Leu126Arg)
9g.36246255A>GCA373419033CLTA,GNEc.485T>C (p.Leu162Pro)
c.215T>C (p.Leu72Pro)
c.392T>C (p.Leu131Pro)
c.486-16943A>G (n.486-16943A>G)
c.377T>C (p.Leu126Pro)
 ClinVar gnomAD v4
9g.36246255A>TCA373419036CLTA,GNEc.485T>A (p.Leu162His)
c.215T>A (p.Leu72His)
c.392T>A (p.Leu131His)
c.486-16943A>T (n.486-16943A>T)
c.377T>A (p.Leu126His)
9g.36246256G>ACA373419039CLTA,GNEc.484C>T (p.Leu162Phe)
c.214C>T (p.Leu72Phe)
c.391C>T (p.Leu131Phe)
c.486-16942G>A (n.486-16942G>A)
c.376C>T (p.Leu126Phe)
9g.36246256G>CCA373419042CLTA,GNEc.484C>G (p.Leu162Val)
c.214C>G (p.Leu72Val)
c.391C>G (p.Leu131Val)
c.486-16942G>C (n.486-16942G>C)
c.376C>G (p.Leu126Val)
 dbSNP gnomAD v4
9g.36246256G=CA1846320841CLTA,GNEc.484C= (p.Leu162=)
c.214C= (p.Leu72=)
c.391C= (p.Leu131=)
c.486-16942G= (n.486-16942G=)
c.376C= (p.Leu126=)
9g.36246256G>TCA373419046CLTA,GNEc.484C>A (p.Leu162Ile)
c.214C>A (p.Leu72Ile)
c.391C>A (p.Leu131Ile)
c.486-16942G>T (n.486-16942G>T)
c.376C>A (p.Leu126Ile)
9g.36246257G>ACA464619709CLTA,GNEc.483C>T (p.Ile161=)
c.213C>T (p.Ile71=)
c.390C>T (p.Ile130=)
c.486-16941G>A (n.486-16941G>A)
c.375C>T (p.Ile125=)
9g.36246257G>CCA373419048CLTA,GNEc.483C>G (p.Ile161Met)
c.213C>G (p.Ile71Met)
c.390C>G (p.Ile130Met)
c.486-16941G>C (n.486-16941G>C)
c.375C>G (p.Ile125Met)
 gnomAD v4
9g.36246257G>TCA464619710CLTA,GNEc.483C>A (p.Ile161=)
c.213C>A (p.Ile71=)
c.390C>A (p.Ile130=)
c.486-16941G>T (n.486-16941G>T)
c.375C>A (p.Ile125=)
9g.36246258A>CCA373419052CLTA,GNEc.482T>G (p.Ile161Ser)
c.212T>G (p.Ile71Ser)
c.389T>G (p.Ile130Ser)
c.486-16940A>C (n.486-16940A>C)
c.374T>G (p.Ile125Ser)
9g.36246258A>GCA373419061CLTA,GNEc.482T>C (p.Ile161Thr)
c.212T>C (p.Ile71Thr)
c.389T>C (p.Ile130Thr)
c.486-16940A>G (n.486-16940A>G)
c.374T>C (p.Ile125Thr)
9g.36246258A>TCA373419063CLTA,GNEc.482T>A (p.Ile161Asn)
c.212T>A (p.Ile71Asn)
c.389T>A (p.Ile130Asn)
c.486-16940A>T (n.486-16940A>T)
c.374T>A (p.Ile125Asn)
9g.36246258_36246259delCA913157669CLTA,GNEc.481_482del (p.Ile161ProfsTer4)
c.211_212del (p.Ile71ProfsTer4)
c.388_389del (p.Ile130ProfsTer4)
c.486-16940_486-16939del (n.486-16940_486-16939del)
c.373_374del (p.Ile125ProfsTer4)
9g.36246258_36246259delinsATCA1846320849CLTA,GNEc.481_482delinsAT (p.Ile161=)
c.211_212delinsAT (p.Ile71=)
c.388_389delinsAT (p.Ile130=)
c.486-16940_486-16939delinsAT (n.486-16940_486-16939delinsAT)
c.373_374delinsAT (p.Ile125=)
9g.36246259T>ACA373419068CLTA,GNEc.481A>T (p.Ile161Phe)
c.211A>T (p.Ile71Phe)
c.388A>T (p.Ile130Phe)
c.486-16939T>A (n.486-16939T>A)
c.373A>T (p.Ile125Phe)
9g.36246259T>CCA373419071CLTA,GNEc.481A>G (p.Ile161Val)
c.211A>G (p.Ile71Val)
c.388A>G (p.Ile130Val)
c.486-16939T>C (n.486-16939T>C)
c.373A>G (p.Ile125Val)
9g.36246259T>GCA373419074CLTA,GNEc.481A>C (p.Ile161Leu)
c.211A>C (p.Ile71Leu)
c.388A>C (p.Ile130Leu)
c.486-16939T>G (n.486-16939T>G)
c.373A>C (p.Ile125Leu)
9g.36246260delCA588147229CLTA,GNEc.481del (p.Ile161SerfsTer21)
c.211del (p.Ile71SerfsTer21)
c.388del (p.Ile130SerfsTer21)
c.486-16938del (n.486-16938del)
c.373del (p.Ile125SerfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246260T>ACA464619724CLTA,GNEc.480A>T (p.Arg160=)
c.210A>T (p.Arg70=)
c.387A>T (p.Arg129=)
c.486-16938T>A (n.486-16938T>A)
c.372A>T (p.Arg124=)
9g.36246260T>CCA464619728CLTA,GNEc.480A>G (p.Arg160=)
c.210A>G (p.Arg70=)
c.387A>G (p.Arg129=)
c.486-16938T>C (n.486-16938T>C)
c.372A>G (p.Arg124=)
9g.36246260T>GCA464619730CLTA,GNEc.480A>C (p.Arg160=)
c.210A>C (p.Arg70=)
c.387A>C (p.Arg129=)
c.486-16938T>G (n.486-16938T>G)
c.372A>C (p.Arg124=)
 dbSNP
9g.36246260T=CA1846320864CLTA,GNEc.480A= (p.Arg160=)
c.210A= (p.Arg70=)
c.387A= (p.Arg129=)
c.486-16938T= (n.486-16938T=)
c.372A= (p.Arg124=)
9g.36246261C>ACA373419076CLTA,GNEc.479G>T (p.Arg160Leu)
c.209G>T (p.Arg70Leu)
c.386G>T (p.Arg129Leu)
c.486-16937C>A (n.486-16937C>A)
c.371G>T (p.Arg124Leu)
9g.36246261C=CA1846320870CLTA,GNEc.479G= (p.Arg160=)
c.209G= (p.Arg70=)
c.386G= (p.Arg129=)
c.486-16937C= (n.486-16937C=)
c.371G= (p.Arg124=)
9g.36246261C>GCA373419085CLTA,GNEc.479G>C (p.Arg160Pro)
c.209G>C (p.Arg70Pro)
c.386G>C (p.Arg129Pro)
c.486-16937C>G (n.486-16937C>G)
c.371G>C (p.Arg124Pro)
 gnomAD v4
9g.36246261C>TCA274432CLTA,GNEc.479G>A (p.Arg160Gln)
c.209G>A (p.Arg70Gln)
c.386G>A (p.Arg129Gln)
c.486-16937C>T (n.486-16937C>T)
c.371G>A (p.Arg124Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246262G>ACA5056732CLTA,GNEc.478C>T (p.Arg160Ter)
c.208C>T (p.Arg70Ter)
c.385C>T (p.Arg129Ter)
c.486-16936G>A (n.486-16936G>A)
c.370C>T (p.Arg124Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246262G>CCA373419090CLTA,GNEc.478C>G (p.Arg160Gly)
c.208C>G (p.Arg70Gly)
c.385C>G (p.Arg129Gly)
c.486-16936G>C (n.486-16936G>C)
c.370C>G (p.Arg124Gly)
 ClinVar
9g.36246262G=CA1846320879CLTA,GNEc.478C= (p.Arg160=)
c.208C= (p.Arg70=)
c.385C= (p.Arg129=)
c.486-16936G= (n.486-16936G=)
c.370C= (p.Arg124=)
9g.36246262G>TCA464619739CLTA,GNEc.478C>A (p.Arg160=)
c.208C>A (p.Arg70=)
c.385C>A (p.Arg129=)
c.486-16936G>T (n.486-16936G>T)
c.370C>A (p.Arg124=)
9g.36246263G>ACA464619741CLTA,GNEc.477C>T (p.Ile159=)
c.207C>T (p.Ile69=)
c.384C>T (p.Ile128=)
c.486-16935G>A (n.486-16935G>A)
c.369C>T (p.Ile123=)
9g.36246263G>CCA373419094CLTA,GNEc.477C>G (p.Ile159Met)
c.207C>G (p.Ile69Met)
c.384C>G (p.Ile128Met)
c.486-16935G>C (n.486-16935G>C)
c.369C>G (p.Ile123Met)
9g.36246263G>TCA464619746CLTA,GNEc.477C>A (p.Ile159=)
c.207C>A (p.Ile69=)
c.384C>A (p.Ile128=)
c.486-16935G>T (n.486-16935G>T)
c.369C>A (p.Ile123=)
9g.36246264A>CCA373419099CLTA,GNEc.476T>G (p.Ile159Ser)
c.206T>G (p.Ile69Ser)
c.383T>G (p.Ile128Ser)
c.486-16934A>C (n.486-16934A>C)
c.368T>G (p.Ile123Ser)
9g.36246264A>GCA373419102CLTA,GNEc.476T>C (p.Ile159Thr)
c.206T>C (p.Ile69Thr)
c.383T>C (p.Ile128Thr)
c.486-16934A>G (n.486-16934A>G)
c.368T>C (p.Ile123Thr)
9g.36246264A>TCA373419106CLTA,GNEc.476T>A (p.Ile159Asn)
c.206T>A (p.Ile69Asn)
c.383T>A (p.Ile128Asn)
c.486-16934A>T (n.486-16934A>T)
c.368T>A (p.Ile123Asn)
 gnomAD v4
9g.36246264dupCA2695210605CLTA,GNEc.476dup (p.Arg160ProfsTer6)
c.206dup (p.Arg70ProfsTer6)
c.383dup (p.Arg129ProfsTer6)
c.486-16934dup (n.486-16934dup)
c.368dup (p.Arg124ProfsTer6)
9g.36246265T>ACA373419120CLTA,GNEc.475A>T (p.Ile159Phe)
c.205A>T (p.Ile69Phe)
c.382A>T (p.Ile128Phe)
c.486-16933T>A (n.486-16933T>A)
c.367A>T (p.Ile123Phe)
9g.36246265T>CCA373419112CLTA,GNEc.475A>G (p.Ile159Val)
c.205A>G (p.Ile69Val)
c.382A>G (p.Ile128Val)
c.486-16933T>C (n.486-16933T>C)
c.367A>G (p.Ile123Val)
9g.36246265T>GCA373419116CLTA,GNEc.475A>C (p.Ile159Leu)
c.205A>C (p.Ile69Leu)
c.382A>C (p.Ile128Leu)
c.486-16933T>G (n.486-16933T>G)
c.367A>C (p.Ile123Leu)
9g.36246266G>ACA464619754CLTA,GNEc.474C>T (p.Asn158=)
c.204C>T (p.Asn68=)
c.381C>T (p.Asn127=)
c.486-16932G>A (n.486-16932G>A)
c.366C>T (p.Asn122=)
9g.36246266G>CCA373419123CLTA,GNEc.474C>G (p.Asn158Lys)
c.204C>G (p.Asn68Lys)
c.381C>G (p.Asn127Lys)
c.486-16932G>C (n.486-16932G>C)
c.366C>G (p.Asn122Lys)
9g.36246266G>TCA373419126CLTA,GNEc.474C>A (p.Asn158Lys)
c.204C>A (p.Asn68Lys)
c.381C>A (p.Asn127Lys)
c.486-16932G>T (n.486-16932G>T)
c.366C>A (p.Asn122Lys)
9g.36246267T>ACA373419131CLTA,GNEc.473A>T (p.Asn158Ile)
c.203A>T (p.Asn68Ile)
c.380A>T (p.Asn127Ile)
c.486-16931T>A (n.486-16931T>A)
c.365A>T (p.Asn122Ile)
9g.36246267T>CCA373419133CLTA,GNEc.473A>G (p.Asn158Ser)
c.203A>G (p.Asn68Ser)
c.380A>G (p.Asn127Ser)
c.486-16931T>C (n.486-16931T>C)
c.365A>G (p.Asn122Ser)
9g.36246267T>GCA373419136CLTA,GNEc.473A>C (p.Asn158Thr)
c.203A>C (p.Asn68Thr)
c.380A>C (p.Asn127Thr)
c.486-16931T>G (n.486-16931T>G)
c.365A>C (p.Asn122Thr)
9g.36246268T>ACA373419140CLTA,GNEc.472A>T (p.Asn158Tyr)
c.202A>T (p.Asn68Tyr)
c.379A>T (p.Asn127Tyr)
c.486-16930T>A (n.486-16930T>A)
c.364A>T (p.Asn122Tyr)
9g.36246268T>CCA373419143CLTA,GNEc.472A>G (p.Asn158Asp)
c.202A>G (p.Asn68Asp)
c.379A>G (p.Asn127Asp)
c.486-16930T>C (n.486-16930T>C)
c.364A>G (p.Asn122Asp)
9g.36246268T>GCA373419141CLTA,GNEc.472A>C (p.Asn158His)
c.202A>C (p.Asn68His)
c.379A>C (p.Asn127His)
c.486-16930T>G (n.486-16930T>G)
c.364A>C (p.Asn122His)
9g.36246269C>ACA373419145CLTA,GNEc.471G>T (p.Met157Ile)
c.201G>T (p.Met67Ile)
c.378G>T (p.Met126Ile)
c.486-16929C>A (n.486-16929C>A)
c.363G>T (p.Met121Ile)
9g.36246269C>GCA373419147CLTA,GNEc.471G>C (p.Met157Ile)
c.201G>C (p.Met67Ile)
c.378G>C (p.Met126Ile)
c.486-16929C>G (n.486-16929C>G)
c.363G>C (p.Met121Ile)
9g.36246269C>TCA373419150CLTA,GNEc.471G>A (p.Met157Ile)
c.201G>A (p.Met67Ile)
c.378G>A (p.Met126Ile)
c.486-16929C>T (n.486-16929C>T)
c.363G>A (p.Met121Ile)
9g.36246270A>CCA373419153CLTA,GNEc.470T>G (p.Met157Arg)
c.200T>G (p.Met67Arg)
c.377T>G (p.Met126Arg)
c.486-16928A>C (n.486-16928A>C)
c.362T>G (p.Met121Arg)
9g.36246270A>GCA373419156CLTA,GNEc.470T>C (p.Met157Thr)
c.200T>C (p.Met67Thr)
c.377T>C (p.Met126Thr)
c.486-16928A>G (n.486-16928A>G)
c.362T>C (p.Met121Thr)
 COSMIC COSMIC COSMIC
9g.36246270A>TCA373419158CLTA,GNEc.470T>A (p.Met157Lys)
c.200T>A (p.Met67Lys)
c.377T>A (p.Met126Lys)
c.486-16928A>T (n.486-16928A>T)
c.362T>A (p.Met121Lys)
 ClinVar
9g.36246271T>ACA373419163CLTA,GNEc.469A>T (p.Met157Leu)
c.199A>T (p.Met67Leu)
c.376A>T (p.Met126Leu)
c.486-16927T>A (n.486-16927T>A)
c.361A>T (p.Met121Leu)
9g.36246271T>CCA373419165CLTA,GNEc.469A>G (p.Met157Val)
c.199A>G (p.Met67Val)
c.376A>G (p.Met126Val)
c.486-16927T>C (n.486-16927T>C)
c.361A>G (p.Met121Val)
9g.36246271T>GCA373419166CLTA,GNEc.469A>C (p.Met157Leu)
c.199A>C (p.Met67Leu)
c.376A>C (p.Met126Leu)
c.486-16927T>G (n.486-16927T>G)
c.361A>C (p.Met121Leu)
9g.36246272C>ACA373419170CLTA,GNEc.468G>T (p.Leu156Phe)
c.198G>T (p.Leu66Phe)
c.375G>T (p.Leu125Phe)
c.486-16926C>A (n.486-16926C>A)
c.360G>T (p.Leu120Phe)
9g.36246272C>GCA373419172CLTA,GNEc.468G>C (p.Leu156Phe)
c.198G>C (p.Leu66Phe)
c.375G>C (p.Leu125Phe)
c.486-16926C>G (n.486-16926C>G)
c.360G>C (p.Leu120Phe)
9g.36246272C>TCA464619780CLTA,GNEc.468G>A (p.Leu156=)
c.198G>A (p.Leu66=)
c.375G>A (p.Leu125=)
c.486-16926C>T (n.486-16926C>T)
c.360G>A (p.Leu120=)
 COSMIC COSMIC COSMIC
9g.36246273A>CCA373419174CLTA,GNEc.467T>G (p.Leu156Trp)
c.197T>G (p.Leu66Trp)
c.374T>G (p.Leu125Trp)
c.486-16925A>C (n.486-16925A>C)
c.359T>G (p.Leu120Trp)
9g.36246273A>GCA373419179CLTA,GNEc.467T>C (p.Leu156Ser)
c.197T>C (p.Leu66Ser)
c.374T>C (p.Leu125Ser)
c.486-16925A>G (n.486-16925A>G)
c.359T>C (p.Leu120Ser)
9g.36246273A>TCA373419176CLTA,GNEc.467T>A (p.Leu156Ter)
c.197T>A (p.Leu66Ter)
c.374T>A (p.Leu125Ter)
c.486-16925A>T (n.486-16925A>T)
c.359T>A (p.Leu120Ter)
9g.36246274A>CCA373419182CLTA,GNEc.466T>G (p.Leu156Val)
c.196T>G (p.Leu66Val)
c.373T>G (p.Leu125Val)
c.486-16924A>C (n.486-16924A>C)
c.358T>G (p.Leu120Val)
9g.36246274A>GCA464619785CLTA,GNEc.466T>C (p.Leu156=)
c.196T>C (p.Leu66=)
c.373T>C (p.Leu125=)
c.486-16924A>G (n.486-16924A>G)
c.358T>C (p.Leu120=)
9g.36246274A>TCA373419184CLTA,GNEc.466T>A (p.Leu156Met)
c.196T>A (p.Leu66Met)
c.373T>A (p.Leu125Met)
c.486-16924A>T (n.486-16924A>T)
c.358T>A (p.Leu120Met)
9g.36246275G>ACA464619791CLTA,GNEc.465C>T (p.Ala155=)
c.195C>T (p.Ala65=)
c.372C>T (p.Ala124=)
c.486-16923G>A (n.486-16923G>A)
c.357C>T (p.Ala119=)
9g.36246275G>CCA464619792CLTA,GNEc.465C>G (p.Ala155=)
c.195C>G (p.Ala65=)
c.372C>G (p.Ala124=)
c.486-16923G>C (n.486-16923G>C)
c.357C>G (p.Ala119=)
9g.36246275G>TCA464619794CLTA,GNEc.465C>A (p.Ala155=)
c.195C>A (p.Ala65=)
c.372C>A (p.Ala124=)
c.486-16923G>T (n.486-16923G>T)
c.357C>A (p.Ala119=)
9g.36246276G>ACA373419188CLTA,GNEc.464C>T (p.Ala155Val)
c.194C>T (p.Ala65Val)
c.371C>T (p.Ala124Val)
c.486-16922G>A (n.486-16922G>A)
c.356C>T (p.Ala119Val)
9g.36246276G>CCA373419191CLTA,GNEc.464C>G (p.Ala155Gly)
c.194C>G (p.Ala65Gly)
c.371C>G (p.Ala124Gly)
c.486-16922G>C (n.486-16922G>C)
c.356C>G (p.Ala119Gly)
9g.36246276G>TCA373419192CLTA,GNEc.464C>A (p.Ala155Asp)
c.194C>A (p.Ala65Asp)
c.371C>A (p.Ala124Asp)
c.486-16922G>T (n.486-16922G>T)
c.356C>A (p.Ala119Asp)
9g.36246277C>ACA373419195CLTA,GNEc.463G>T (p.Ala155Ser)
c.193G>T (p.Ala65Ser)
c.370G>T (p.Ala124Ser)
c.486-16921C>A (n.486-16921C>A)
c.355G>T (p.Ala119Ser)
9g.36246277C>GCA373419196CLTA,GNEc.463G>C (p.Ala155Pro)
c.193G>C (p.Ala65Pro)
c.370G>C (p.Ala124Pro)
c.486-16921C>G (n.486-16921C>G)
c.355G>C (p.Ala119Pro)
9g.36246277C>TCA373419198CLTA,GNEc.463G>A (p.Ala155Thr)
c.193G>A (p.Ala65Thr)
c.370G>A (p.Ala124Thr)
c.486-16921C>T (n.486-16921C>T)
c.355G>A (p.Ala119Thr)
 gnomAD v4
9g.36246278A>CCA464619799CLTA,GNEc.462T>G (p.Ala154=)
c.192T>G (p.Ala64=)
c.369T>G (p.Ala123=)
c.486-16920A>C (n.486-16920A>C)
c.354T>G (p.Ala118=)
9g.36246278A>GCA464619800CLTA,GNEc.462T>C (p.Ala154=)
c.192T>C (p.Ala64=)
c.369T>C (p.Ala123=)
c.486-16920A>G (n.486-16920A>G)
c.354T>C (p.Ala118=)
 gnomAD v4
9g.36246278A>TCA464619801CLTA,GNEc.462T>A (p.Ala154=)
c.192T>A (p.Ala64=)
c.369T>A (p.Ala123=)
c.486-16920A>T (n.486-16920A>T)
c.354T>A (p.Ala118=)
9g.36246279G>ACA373419201CLTA,GNEc.461C>T (p.Ala154Val)
c.191C>T (p.Ala64Val)
c.368C>T (p.Ala123Val)
c.486-16919G>A (n.486-16919G>A)
c.353C>T (p.Ala118Val)
 dbSNP gnomAD v3 gnomAD v4
9g.36246279G>CCA373419203CLTA,GNEc.461C>G (p.Ala154Gly)
c.191C>G (p.Ala64Gly)
c.368C>G (p.Ala123Gly)
c.486-16919G>C (n.486-16919G>C)
c.353C>G (p.Ala118Gly)
9g.36246279G=CA1846320888CLTA,GNEc.461C= (p.Ala154=)
c.191C= (p.Ala64=)
c.368C= (p.Ala123=)
c.486-16919G= (n.486-16919G=)
c.353C= (p.Ala118=)
9g.36246279G>TCA373419206CLTA,GNEc.461C>A (p.Ala154Asp)
c.191C>A (p.Ala64Asp)
c.368C>A (p.Ala123Asp)
c.486-16919G>T (n.486-16919G>T)
c.353C>A (p.Ala118Asp)
9g.36246280C>ACA373419209CLTA,GNEc.460G>T (p.Ala154Ser)
c.190G>T (p.Ala64Ser)
c.367G>T (p.Ala123Ser)
c.486-16918C>A (n.486-16918C>A)
c.352G>T (p.Ala118Ser)
9g.36246280C>GCA373419212CLTA,GNEc.460G>C (p.Ala154Pro)
c.190G>C (p.Ala64Pro)
c.367G>C (p.Ala123Pro)
c.486-16918C>G (n.486-16918C>G)
c.352G>C (p.Ala118Pro)
9g.36246280C>TCA373419215CLTA,GNEc.460G>A (p.Ala154Thr)
c.190G>A (p.Ala64Thr)
c.367G>A (p.Ala123Thr)
c.486-16918C>T (n.486-16918C>T)
c.352G>A (p.Ala118Thr)
9g.36246281A=CA1846320894CLTA,GNEc.459T= (p.Ser153=)
c.189T= (p.Ser63=)
c.366T= (p.Ser122=)
c.486-16917A= (n.486-16917A=)
c.351T= (p.Ser117=)
9g.36246281A>CCA464619810CLTA,GNEc.459T>G (p.Ser153=)
c.189T>G (p.Ser63=)
c.366T>G (p.Ser122=)
c.486-16917A>C (n.486-16917A>C)
c.351T>G (p.Ser117=)
 dbSNP
9g.36246281A>GCA464619811CLTA,GNEc.459T>C (p.Ser153=)
c.189T>C (p.Ser63=)
c.366T>C (p.Ser122=)
c.486-16917A>G (n.486-16917A>G)
c.351T>C (p.Ser117=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246281A>TCA464619806CLTA,GNEc.459T>A (p.Ser153=)
c.189T>A (p.Ser63=)
c.366T>A (p.Ser122=)
c.486-16917A>T (n.486-16917A>T)
c.351T>A (p.Ser117=)
9g.36246282G>ACA373419225CLTA,GNEc.458C>T (p.Ser153Phe)
c.188C>T (p.Ser63Phe)
c.365C>T (p.Ser122Phe)
c.486-16916G>A (n.486-16916G>A)
c.350C>T (p.Ser117Phe)
9g.36246282G>CCA373419222CLTA,GNEc.458C>G (p.Ser153Cys)
c.188C>G (p.Ser63Cys)
c.365C>G (p.Ser122Cys)
c.486-16916G>C (n.486-16916G>C)
c.350C>G (p.Ser117Cys)
9g.36246282G>TCA373419220CLTA,GNEc.458C>A (p.Ser153Tyr)
c.188C>A (p.Ser63Tyr)
c.365C>A (p.Ser122Tyr)
c.486-16916G>T (n.486-16916G>T)
c.350C>A (p.Ser117Tyr)
9g.36246283A>CCA373419228CLTA,GNEc.457T>G (p.Ser153Ala)
c.187T>G (p.Ser63Ala)
c.364T>G (p.Ser122Ala)
c.486-16915A>C (n.486-16915A>C)
c.349T>G (p.Ser117Ala)
9g.36246283A>GCA373419230CLTA,GNEc.457T>C (p.Ser153Pro)
c.187T>C (p.Ser63Pro)
c.364T>C (p.Ser122Pro)
c.486-16915A>G (n.486-16915A>G)
c.349T>C (p.Ser117Pro)
 gnomAD v4
9g.36246283A>TCA373419233CLTA,GNEc.457T>A (p.Ser153Thr)
c.187T>A (p.Ser63Thr)
c.364T>A (p.Ser122Thr)
c.486-16915A>T (n.486-16915A>T)
c.349T>A (p.Ser117Thr)
9g.36246284T>ACA464619816CLTA,GNEc.456A>T (p.Thr152=)
c.186A>T (p.Thr62=)
c.363A>T (p.Thr121=)
c.486-16914T>A (n.486-16914T>A)
c.348A>T (p.Thr116=)
9g.36246284T>CCA464619819CLTA,GNEc.456A>G (p.Thr152=)
c.186A>G (p.Thr62=)
c.363A>G (p.Thr121=)
c.486-16914T>C (n.486-16914T>C)
c.348A>G (p.Thr116=)
 ClinVar
9g.36246284T>GCA464619821CLTA,GNEc.456A>C (p.Thr152=)
c.186A>C (p.Thr62=)
c.363A>C (p.Thr121=)
c.486-16914T>G (n.486-16914T>G)
c.348A>C (p.Thr116=)
9g.36246285G>ACA373419237CLTA,GNEc.455C>T (p.Thr152Ile)
c.185C>T (p.Thr62Ile)
c.362C>T (p.Thr121Ile)
c.486-16913G>A (n.486-16913G>A)
c.347C>T (p.Thr116Ile)
9g.36246285G>CCA373419240CLTA,GNEc.455C>G (p.Thr152Arg)
c.185C>G (p.Thr62Arg)
c.362C>G (p.Thr121Arg)
c.486-16913G>C (n.486-16913G>C)
c.347C>G (p.Thr116Arg)
9g.36246285G>TCA373419243CLTA,GNEc.455C>A (p.Thr152Lys)
c.185C>A (p.Thr62Lys)
c.362C>A (p.Thr121Lys)
c.486-16913G>T (n.486-16913G>T)
c.347C>A (p.Thr116Lys)
9g.36246285dupCA2695210606CLTA,GNEc.455dup (p.Ser153IlefsTer13)
c.185dup (p.Ser63IlefsTer13)
c.362dup (p.Ser122IlefsTer13)
c.486-16913dup (n.486-16913dup)
c.347dup (p.Ser117IlefsTer13)
9g.36246286T>ACA373419247CLTA,GNEc.454A>T (p.Thr152Ser)
c.184A>T (p.Thr62Ser)
c.361A>T (p.Thr121Ser)
c.486-16912T>A (n.486-16912T>A)
c.346A>T (p.Thr116Ser)
9g.36246286T>CCA373419249CLTA,GNEc.454A>G (p.Thr152Ala)
c.184A>G (p.Thr62Ala)
c.361A>G (p.Thr121Ala)
c.486-16912T>C (n.486-16912T>C)
c.346A>G (p.Thr116Ala)
9g.36246286T>GCA373419252CLTA,GNEc.454A>C (p.Thr152Pro)
c.184A>C (p.Thr62Pro)
c.361A>C (p.Thr121Pro)
c.486-16912T>G (n.486-16912T>G)
c.346A>C (p.Thr116Pro)
9g.36246287G>ACA464619831CLTA,GNEc.453C>T (p.Ala151=)
c.183C>T (p.Ala61=)
c.360C>T (p.Ala120=)
c.486-16911G>A (n.486-16911G>A)
c.345C>T (p.Ala115=)
9g.36246287G>CCA464619830CLTA,GNEc.453C>G (p.Ala151=)
c.183C>G (p.Ala61=)
c.360C>G (p.Ala120=)
c.486-16911G>C (n.486-16911G>C)
c.345C>G (p.Ala115=)
9g.36246287G>TCA464619829CLTA,GNEc.453C>A (p.Ala151=)
c.183C>A (p.Ala61=)
c.360C>A (p.Ala120=)
c.486-16911G>T (n.486-16911G>T)
c.345C>A (p.Ala115=)
9g.36246288G>ACA373419256CLTA,GNEc.452C>T (p.Ala151Val)
c.182C>T (p.Ala61Val)
c.359C>T (p.Ala120Val)
c.486-16910G>A (n.486-16910G>A)
c.344C>T (p.Ala115Val)
9g.36246288G>CCA373419258CLTA,GNEc.452C>G (p.Ala151Gly)
c.182C>G (p.Ala61Gly)
c.359C>G (p.Ala120Gly)
c.486-16910G>C (n.486-16910G>C)
c.344C>G (p.Ala115Gly)
9g.36246288G>TCA373419261CLTA,GNEc.452C>A (p.Ala151Asp)
c.182C>A (p.Ala61Asp)
c.359C>A (p.Ala120Asp)
c.486-16910G>T (n.486-16910G>T)
c.344C>A (p.Ala115Asp)
9g.36246289C>ACA373419270CLTA,GNEc.451G>T (p.Ala151Ser)
c.181G>T (p.Ala61Ser)
c.358G>T (p.Ala120Ser)
c.486-16909C>A (n.486-16909C>A)
c.343G>T (p.Ala115Ser)
9g.36246289C>GCA373419267CLTA,GNEc.451G>C (p.Ala151Pro)
c.181G>C (p.Ala61Pro)
c.358G>C (p.Ala120Pro)
c.486-16909C>G (n.486-16909C>G)
c.343G>C (p.Ala115Pro)
9g.36246289C>TCA373419265CLTA,GNEc.451G>A (p.Ala151Thr)
c.181G>A (p.Ala61Thr)
c.358G>A (p.Ala120Thr)
c.486-16909C>T (n.486-16909C>T)
c.343G>A (p.Ala115Thr)
9g.36246290C>ACA464619841CLTA,GNEc.450G>T (p.Leu150=)
c.180G>T (p.Leu60=)
c.357G>T (p.Leu119=)
c.486-16908C>A (n.486-16908C>A)
c.342G>T (p.Leu114=)
9g.36246290C>GCA464619842CLTA,GNEc.450G>C (p.Leu150=)
c.180G>C (p.Leu60=)
c.357G>C (p.Leu119=)
c.486-16908C>G (n.486-16908C>G)
c.342G>C (p.Leu114=)
9g.36246290C>TCA464619843CLTA,GNEc.450G>A (p.Leu150=)
c.180G>A (p.Leu60=)
c.357G>A (p.Leu119=)
c.486-16908C>T (n.486-16908C>T)
c.342G>A (p.Leu114=)
9g.36246291A>CCA373419274CLTA,GNEc.449T>G (p.Leu150Arg)
c.179T>G (p.Leu60Arg)
c.356T>G (p.Leu119Arg)
c.486-16907A>C (n.486-16907A>C)
c.341T>G (p.Leu114Arg)
9g.36246291A>GCA373419275CLTA,GNEc.449T>C (p.Leu150Pro)
c.179T>C (p.Leu60Pro)
c.356T>C (p.Leu119Pro)
c.486-16907A>G (n.486-16907A>G)
c.341T>C (p.Leu114Pro)
9g.36246291A>TCA373419276CLTA,GNEc.449T>A (p.Leu150Gln)
c.179T>A (p.Leu60Gln)
c.356T>A (p.Leu119Gln)
c.486-16907A>T (n.486-16907A>T)
c.341T>A (p.Leu114Gln)
9g.36246292G>ACA464619851CLTA,GNEc.448C>T (p.Leu150=)
c.178C>T (p.Leu60=)
c.355C>T (p.Leu119=)
c.486-16906G>A (n.486-16906G>A)
c.340C>T (p.Leu114=)
9g.36246292G>CCA373419277CLTA,GNEc.448C>G (p.Leu150Val)
c.178C>G (p.Leu60Val)
c.355C>G (p.Leu119Val)
c.486-16906G>C (n.486-16906G>C)
c.340C>G (p.Leu114Val)
 gnomAD v4
9g.36246292G>TCA373419278CLTA,GNEc.448C>A (p.Leu150Met)
c.178C>A (p.Leu60Met)
c.355C>A (p.Leu119Met)
c.486-16906G>T (n.486-16906G>T)
c.340C>A (p.Leu114Met)
9g.36246293A>CCA464619853CLTA,GNEc.447T>G (p.Ala149=)
c.177T>G (p.Ala59=)
c.354T>G (p.Ala118=)
c.486-16905A>C (n.486-16905A>C)
c.339T>G (p.Ala113=)
9g.36246293A>GCA464619854CLTA,GNEc.447T>C (p.Ala149=)
c.177T>C (p.Ala59=)
c.354T>C (p.Ala118=)
c.486-16905A>G (n.486-16905A>G)
c.339T>C (p.Ala113=)
9g.36246293A>TCA464619855CLTA,GNEc.447T>A (p.Ala149=)
c.177T>A (p.Ala59=)
c.354T>A (p.Ala118=)
c.486-16905A>T (n.486-16905A>T)
c.339T>A (p.Ala113=)
9g.36246294G>ACA373419279CLTA,GNEc.446C>T (p.Ala149Val)
c.176C>T (p.Ala59Val)
c.353C>T (p.Ala118Val)
c.486-16904G>A (n.486-16904G>A)
c.338C>T (p.Ala113Val)
 ClinVar
9g.36246294G>CCA373419280CLTA,GNEc.446C>G (p.Ala149Gly)
c.176C>G (p.Ala59Gly)
c.353C>G (p.Ala118Gly)
c.486-16904G>C (n.486-16904G>C)
c.338C>G (p.Ala113Gly)
9g.36246294G>TCA373419281CLTA,GNEc.446C>A (p.Ala149Asp)
c.176C>A (p.Ala59Asp)
c.353C>A (p.Ala118Asp)
c.486-16904G>T (n.486-16904G>T)
c.338C>A (p.Ala113Asp)
9g.36246295C>ACA373419282CLTA,GNEc.445G>T (p.Ala149Ser)
c.175G>T (p.Ala59Ser)
c.352G>T (p.Ala118Ser)
c.486-16903C>A (n.486-16903C>A)
c.337G>T (p.Ala113Ser)
9g.36246295C>GCA373419283CLTA,GNEc.445G>C (p.Ala149Pro)
c.175G>C (p.Ala59Pro)
c.352G>C (p.Ala118Pro)
c.486-16903C>G (n.486-16903C>G)
c.337G>C (p.Ala113Pro)
9g.36246295C>TCA373419284CLTA,GNEc.445G>A (p.Ala149Thr)
c.175G>A (p.Ala59Thr)
c.352G>A (p.Ala118Thr)
c.486-16903C>T (n.486-16903C>T)
c.337G>A (p.Ala113Thr)
9g.36246296C>ACA464619859CLTA,GNEc.444G>T (p.Leu148=)
c.174G>T (p.Leu58=)
c.351G>T (p.Leu117=)
c.486-16902C>A (n.486-16902C>A)
c.336G>T (p.Leu112=)
9g.36246296C>GCA464619861CLTA,GNEc.444G>C (p.Leu148=)
c.174G>C (p.Leu58=)
c.351G>C (p.Leu117=)
c.486-16902C>G (n.486-16902C>G)
c.336G>C (p.Leu112=)
9g.36246296C>TCA464619862CLTA,GNEc.444G>A (p.Leu148=)
c.174G>A (p.Leu58=)
c.351G>A (p.Leu117=)
c.486-16902C>T (n.486-16902C>T)
c.336G>A (p.Leu112=)
9g.36246297A=CA1846320896CLTA,GNEc.443T= (p.Leu148=)
c.173T= (p.Leu58=)
c.350T= (p.Leu117=)
c.486-16901A= (n.486-16901A=)
c.335T= (p.Leu112=)
9g.36246297A>CCA373419285CLTA,GNEc.443T>G (p.Leu148Arg)
c.173T>G (p.Leu58Arg)
c.350T>G (p.Leu117Arg)
c.486-16901A>C (n.486-16901A>C)
c.335T>G (p.Leu112Arg)
9g.36246297A>GCA373419286CLTA,GNEc.443T>C (p.Leu148Pro)
c.173T>C (p.Leu58Pro)
c.350T>C (p.Leu117Pro)
c.486-16901A>G (n.486-16901A>G)
c.335T>C (p.Leu112Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246297A>TCA373419287CLTA,GNEc.443T>A (p.Leu148Gln)
c.173T>A (p.Leu58Gln)
c.350T>A (p.Leu117Gln)
c.486-16901A>T (n.486-16901A>T)
c.335T>A (p.Leu112Gln)
9g.36246298G>ACA464619865CLTA,GNEc.442C>T (p.Leu148=)
c.172C>T (p.Leu58=)
c.349C>T (p.Leu117=)
c.486-16900G>A (n.486-16900G>A)
c.334C>T (p.Leu112=)
 gnomAD v4
9g.36246298G>CCA373419288CLTA,GNEc.442C>G (p.Leu148Val)
c.172C>G (p.Leu58Val)
c.349C>G (p.Leu117Val)
c.486-16900G>C (n.486-16900G>C)
c.334C>G (p.Leu112Val)
9g.36246298G>TCA373419291CLTA,GNEc.442C>A (p.Leu148Met)
c.172C>A (p.Leu58Met)
c.349C>A (p.Leu117Met)
c.486-16900G>T (n.486-16900G>T)
c.334C>A (p.Leu112Met)
9g.36246299G>ACA464619866CLTA,GNEc.441C>T (p.Ala147=)
c.171C>T (p.Ala57=)
c.348C>T (p.Ala116=)
c.486-16899G>A (n.486-16899G>A)
c.333C>T (p.Ala111=)
 ClinVar
9g.36246299G>CCA464619868CLTA,GNEc.441C>G (p.Ala147=)
c.171C>G (p.Ala57=)
c.348C>G (p.Ala116=)
c.486-16899G>C (n.486-16899G>C)
c.333C>G (p.Ala111=)
9g.36246299G>TCA464619869CLTA,GNEc.441C>A (p.Ala147=)
c.171C>A (p.Ala57=)
c.348C>A (p.Ala116=)
c.486-16899G>T (n.486-16899G>T)
c.333C>A (p.Ala111=)
9g.36246300G>ACA373419295CLTA,GNEc.440C>T (p.Ala147Val)
c.170C>T (p.Ala57Val)
c.347C>T (p.Ala116Val)
c.486-16898G>A (n.486-16898G>A)
c.332C>T (p.Ala111Val)
9g.36246300G>CCA373419298CLTA,GNEc.440C>G (p.Ala147Gly)
c.170C>G (p.Ala57Gly)
c.347C>G (p.Ala116Gly)
c.486-16898G>C (n.486-16898G>C)
c.332C>G (p.Ala111Gly)
9g.36246300G>TCA373419301CLTA,GNEc.440C>A (p.Ala147Asp)
c.170C>A (p.Ala57Asp)
c.347C>A (p.Ala116Asp)
c.486-16898G>T (n.486-16898G>T)
c.332C>A (p.Ala111Asp)
9g.36246301C>ACA373419303CLTA,GNEc.439G>T (p.Ala147Ser)
c.169G>T (p.Ala57Ser)
c.346G>T (p.Ala116Ser)
c.486-16897C>A (n.486-16897C>A)
c.331G>T (p.Ala111Ser)
9g.36246301C>GCA373419306CLTA,GNEc.439G>C (p.Ala147Pro)
c.169G>C (p.Ala57Pro)
c.346G>C (p.Ala116Pro)
c.486-16897C>G (n.486-16897C>G)
c.331G>C (p.Ala111Pro)
9g.36246301C>TCA373419309CLTA,GNEc.439G>A (p.Ala147Thr)
c.169G>A (p.Ala57Thr)
c.346G>A (p.Ala116Thr)
c.486-16897C>T (n.486-16897C>T)
c.331G>A (p.Ala111Thr)
9g.36246302A>CCA373419312CLTA,GNEc.438T>G (p.Asp146Glu)
c.168T>G (p.Asp56Glu)
c.345T>G (p.Asp115Glu)
c.486-16896A>C (n.486-16896A>C)
c.330T>G (p.Asp110Glu)
9g.36246302A>GCA464619879CLTA,GNEc.438T>C (p.Asp146=)
c.168T>C (p.Asp56=)
c.345T>C (p.Asp115=)
c.486-16896A>G (n.486-16896A>G)
c.330T>C (p.Asp110=)
9g.36246302A>TCA373419314CLTA,GNEc.438T>A (p.Asp146Glu)
c.168T>A (p.Asp56Glu)
c.345T>A (p.Asp115Glu)
c.486-16896A>T (n.486-16896A>T)
c.330T>A (p.Asp110Glu)
9g.36246303delCA2689947825CLTA,GNEc.437del (p.Asp146ValfsTer11)
c.167del (p.Asp56ValfsTer11)
c.344del (p.Asp115ValfsTer11)
c.486-16895del (n.486-16895del)
c.329del (p.Asp110ValfsTer11)
 gnomAD v4
9g.36246303T>ACA373419319CLTA,GNEc.437A>T (p.Asp146Val)
c.167A>T (p.Asp56Val)
c.344A>T (p.Asp115Val)
c.486-16895T>A (n.486-16895T>A)
c.329A>T (p.Asp110Val)
9g.36246303T>CCA373419322CLTA,GNEc.437A>G (p.Asp146Gly)
c.167A>G (p.Asp56Gly)
c.344A>G (p.Asp115Gly)
c.486-16895T>C (n.486-16895T>C)
c.329A>G (p.Asp110Gly)
9g.36246303T>GCA373419324CLTA,GNEc.437A>C (p.Asp146Ala)
c.167A>C (p.Asp56Ala)
c.344A>C (p.Asp115Ala)
c.486-16895T>G (n.486-16895T>G)
c.329A>C (p.Asp110Ala)
9g.36246304C>ACA373419329CLTA,GNEc.436G>T (p.Asp146Tyr)
c.166G>T (p.Asp56Tyr)
c.343G>T (p.Asp115Tyr)
c.486-16894C>A (n.486-16894C>A)
c.328G>T (p.Asp110Tyr)
9g.36246304C=CA1846320900CLTA,GNEc.436G= (p.Asp146=)
c.166G= (p.Asp56=)
c.343G= (p.Asp115=)
c.486-16894C= (n.486-16894C=)
c.328G= (p.Asp110=)
9g.36246304C>GCA373419335CLTA,GNEc.436G>C (p.Asp146His)
c.166G>C (p.Asp56His)
c.343G>C (p.Asp115His)
c.486-16894C>G (n.486-16894C>G)
c.328G>C (p.Asp110His)
9g.36246304C>TCA373419331CLTA,GNEc.436G>A (p.Asp146Asn)
c.166G>A (p.Asp56Asn)
c.343G>A (p.Asp115Asn)
c.486-16894C>T (n.486-16894C>T)
c.328G>A (p.Asp110Asn)
 dbSNP gnomAD v4
9g.36246305A>CCA373419339CLTA,GNEc.435T>G (p.Phe145Leu)
c.165T>G (p.Phe55Leu)
c.342T>G (p.Phe114Leu)
c.486-16893A>C (n.486-16893A>C)
c.327T>G (p.Phe109Leu)
9g.36246305A>GCA464619883CLTA,GNEc.435T>C (p.Phe145=)
c.165T>C (p.Phe55=)
c.342T>C (p.Phe114=)
c.486-16893A>G (n.486-16893A>G)
c.327T>C (p.Phe109=)
9g.36246305A>TCA373419342CLTA,GNEc.435T>A (p.Phe145Leu)
c.165T>A (p.Phe55Leu)
c.342T>A (p.Phe114Leu)
c.486-16893A>T (n.486-16893A>T)
c.327T>A (p.Phe109Leu)
9g.36246306A=CA1846320902CLTA,GNEc.434T= (p.Phe145=)
c.164T= (p.Phe55=)
c.341T= (p.Phe114=)
c.486-16892A= (n.486-16892A=)
c.326T= (p.Phe109=)
9g.36246306A>CCA373419345CLTA,GNEc.434T>G (p.Phe145Cys)
c.164T>G (p.Phe55Cys)
c.341T>G (p.Phe114Cys)
c.486-16892A>C (n.486-16892A>C)
c.326T>G (p.Phe109Cys)
9g.36246306A>GCA373419351CLTA,GNEc.434T>C (p.Phe145Ser)
c.164T>C (p.Phe55Ser)
c.341T>C (p.Phe114Ser)
c.486-16892A>G (n.486-16892A>G)
c.326T>C (p.Phe109Ser)
 dbSNP
9g.36246306A>TCA373419348CLTA,GNEc.434T>A (p.Phe145Tyr)
c.164T>A (p.Phe55Tyr)
c.341T>A (p.Phe114Tyr)
c.486-16892A>T (n.486-16892A>T)
c.326T>A (p.Phe109Tyr)
9g.36246307A>CCA373419353CLTA,GNEc.433T>G (p.Phe145Val)
c.163T>G (p.Phe55Val)
c.340T>G (p.Phe114Val)
c.486-16891A>C (n.486-16891A>C)
c.325T>G (p.Phe109Val)
9g.36246307A>GCA373419358CLTA,GNEc.433T>C (p.Phe145Leu)
c.163T>C (p.Phe55Leu)
c.340T>C (p.Phe114Leu)
c.486-16891A>G (n.486-16891A>G)
c.325T>C (p.Phe109Leu)
9g.36246307A>TCA373419356CLTA,GNEc.433T>A (p.Phe145Ile)
c.163T>A (p.Phe55Ile)
c.340T>A (p.Phe114Ile)
c.486-16891A>T (n.486-16891A>T)
c.325T>A (p.Phe109Ile)
9g.36246308C>ACA373419360CLTA,GNEc.432G>T (p.Arg144Ser)
c.162G>T (p.Arg54Ser)
c.339G>T (p.Arg113Ser)
c.486-16890C>A (n.486-16890C>A)
c.324G>T (p.Arg108Ser)
9g.36246308C>GCA373419363CLTA,GNEc.432G>C (p.Arg144Ser)
c.162G>C (p.Arg54Ser)
c.339G>C (p.Arg113Ser)
c.486-16890C>G (n.486-16890C>G)
c.324G>C (p.Arg108Ser)
9g.36246308C>TCA464619890CLTA,GNEc.432G>A (p.Arg144=)
c.162G>A (p.Arg54=)
c.339G>A (p.Arg113=)
c.486-16890C>T (n.486-16890C>T)
c.324G>A (p.Arg108=)
9g.36246309C>ACA373419366CLTA,GNEc.431G>T (p.Arg144Met)
c.161G>T (p.Arg54Met)
c.338G>T (p.Arg113Met)
c.486-16889C>A (n.486-16889C>A)
c.323G>T (p.Arg108Met)
9g.36246309C>GCA373419374CLTA,GNEc.431G>C (p.Arg144Thr)
c.161G>C (p.Arg54Thr)
c.338G>C (p.Arg113Thr)
c.486-16889C>G (n.486-16889C>G)
c.323G>C (p.Arg108Thr)
9g.36246309C>TCA373419375CLTA,GNEc.431G>A (p.Arg144Lys)
c.161G>A (p.Arg54Lys)
c.338G>A (p.Arg113Lys)
c.486-16889C>T (n.486-16889C>T)
c.323G>A (p.Arg108Lys)
9g.36246310T>ACA373419378CLTA,GNEc.430A>T (p.Arg144Trp)
c.160A>T (p.Arg54Trp)
c.337A>T (p.Arg113Trp)
c.486-16888T>A (n.486-16888T>A)
c.322A>T (p.Arg108Trp)
9g.36246310T>CCA373419381CLTA,GNEc.430A>G (p.Arg144Gly)
c.160A>G (p.Arg54Gly)
c.337A>G (p.Arg113Gly)
c.486-16888T>C (n.486-16888T>C)
c.322A>G (p.Arg108Gly)
9g.36246310T>GCA464619897CLTA,GNEc.430A>C (p.Arg144=)
c.160A>C (p.Arg54=)
c.337A>C (p.Arg113=)
c.486-16888T>G (n.486-16888T>G)
c.322A>C (p.Arg108=)
9g.36246311G>ACA192828325CLTA,GNEc.429C>T (p.Asp143=)
c.159C>T (p.Asp53=)
c.336C>T (p.Asp112=)
c.486-16887G>A (n.486-16887G>A)
c.321C>T (p.Asp107=)
 dbSNP
9g.36246311G>CCA373419385CLTA,GNEc.429C>G (p.Asp143Glu)
c.159C>G (p.Asp53Glu)
c.336C>G (p.Asp112Glu)
c.486-16887G>C (n.486-16887G>C)
c.321C>G (p.Asp107Glu)
9g.36246311G=CA1846320907CLTA,GNEc.429C= (p.Asp143=)
c.159C= (p.Asp53=)
c.336C= (p.Asp112=)
c.486-16887G= (n.486-16887G=)
c.321C= (p.Asp107=)
9g.36246311G>TCA373419388CLTA,GNEc.429C>A (p.Asp143Glu)
c.159C>A (p.Asp53Glu)
c.336C>A (p.Asp112Glu)
c.486-16887G>T (n.486-16887G>T)
c.321C>A (p.Asp107Glu)
 gnomAD v4
9g.36246312T>ACA373419394CLTA,GNEc.428A>T (p.Asp143Val)
c.158A>T (p.Asp53Val)
c.335A>T (p.Asp112Val)
c.486-16886T>A (n.486-16886T>A)
c.320A>T (p.Asp107Val)
9g.36246312T>CCA373419397CLTA,GNEc.428A>G (p.Asp143Gly)
c.158A>G (p.Asp53Gly)
c.335A>G (p.Asp112Gly)
c.486-16886T>C (n.486-16886T>C)
c.320A>G (p.Asp107Gly)
9g.36246312T>GCA373419401CLTA,GNEc.428A>C (p.Asp143Ala)
c.158A>C (p.Asp53Ala)
c.335A>C (p.Asp112Ala)
c.486-16886T>G (n.486-16886T>G)
c.320A>C (p.Asp107Ala)
9g.36246313C>ACA373419416CLTA,GNEc.427G>T (p.Asp143Tyr)
c.157G>T (p.Asp53Tyr)
c.334G>T (p.Asp112Tyr)
c.486-16885C>A (n.486-16885C>A)
c.319G>T (p.Asp107Tyr)
9g.36246313C>GCA373419407CLTA,GNEc.427G>C (p.Asp143His)
c.157G>C (p.Asp53His)
c.334G>C (p.Asp112His)
c.486-16885C>G (n.486-16885C>G)
c.319G>C (p.Asp107His)
9g.36246313C>TCA373419411CLTA,GNEc.427G>A (p.Asp143Asn)
c.157G>A (p.Asp53Asn)
c.334G>A (p.Asp112Asn)
c.486-16885C>T (n.486-16885C>T)
c.319G>A (p.Asp107Asn)
9g.36246314T>ACA464619903CLTA,GNEc.426A>T (p.Gly142=)
c.156A>T (p.Gly52=)
c.333A>T (p.Gly111=)
c.486-16884T>A (n.486-16884T>A)
c.318A>T (p.Gly106=)
9g.36246314T>CCA464619909CLTA,GNEc.426A>G (p.Gly142=)
c.156A>G (p.Gly52=)
c.333A>G (p.Gly111=)
c.486-16884T>C (n.486-16884T>C)
c.318A>G (p.Gly106=)
9g.36246314T>GCA464619911CLTA,GNEc.426A>C (p.Gly142=)
c.156A>C (p.Gly52=)
c.333A>C (p.Gly111=)
c.486-16884T>G (n.486-16884T>G)
c.318A>C (p.Gly106=)
9g.36246316_36246326delCA2573106149CLTA,GNEc.416_426del (p.Ile139ArgfsTer4)
c.146_156del (p.Ile49ArgfsTer4)
c.323_333del (p.Ile108ArgfsTer4)
c.486-16882_486-16872del (n.486-16882_486-16872del)
c.308_318del (p.Ile103ArgfsTer4)
9g.36246315C>ACA373419421CLTA,GNEc.425G>T (p.Gly142Val)
c.155G>T (p.Gly52Val)
c.332G>T (p.Gly111Val)
c.486-16883C>A (n.486-16883C>A)
c.317G>T (p.Gly106Val)
9g.36246315C>GCA373419423CLTA,GNEc.425G>C (p.Gly142Ala)
c.155G>C (p.Gly52Ala)
c.332G>C (p.Gly111Ala)
c.486-16883C>G (n.486-16883C>G)
c.317G>C (p.Gly106Ala)
9g.36246315C>TCA373419427CLTA,GNEc.425G>A (p.Gly142Glu)
c.155G>A (p.Gly52Glu)
c.332G>A (p.Gly111Glu)
c.486-16883C>T (n.486-16883C>T)
c.317G>A (p.Gly106Glu)
 gnomAD v4
9g.36246316C>ACA373419431CLTA,GNEc.424G>T (p.Gly142Ter)
c.154G>T (p.Gly52Ter)
c.331G>T (p.Gly111Ter)
c.486-16882C>A (n.486-16882C>A)
c.316G>T (p.Gly106Ter)
9g.36246316C>GCA373419435CLTA,GNEc.424G>C (p.Gly142Arg)
c.154G>C (p.Gly52Arg)
c.331G>C (p.Gly111Arg)
c.486-16882C>G (n.486-16882C>G)
c.316G>C (p.Gly106Arg)
9g.36246316C>TCA373419439CLTA,GNEc.424G>A (p.Gly142Arg)
c.154G>A (p.Gly52Arg)
c.331G>A (p.Gly111Arg)
c.486-16882C>T (n.486-16882C>T)
c.316G>A (p.Gly106Arg)
9g.36246317A>CCA373419444CLTA,GNEc.423T>G (p.His141Gln)
c.153T>G (p.His51Gln)
c.330T>G (p.His110Gln)
c.486-16881A>C (n.486-16881A>C)
c.315T>G (p.His105Gln)
9g.36246317A>GCA464619917CLTA,GNEc.423T>C (p.His141=)
c.153T>C (p.His51=)
c.330T>C (p.His110=)
c.486-16881A>G (n.486-16881A>G)
c.315T>C (p.His105=)
 ClinVar dbSNP
9g.36246317A>TCA373419447CLTA,GNEc.423T>A (p.His141Gln)
c.153T>A (p.His51Gln)
c.330T>A (p.His110Gln)
c.486-16881A>T (n.486-16881A>T)
c.315T>A (p.His105Gln)
9g.36246318T>ACA373419452CLTA,GNEc.422A>T (p.His141Leu)
c.152A>T (p.His51Leu)
c.329A>T (p.His110Leu)
c.486-16880T>A (n.486-16880T>A)
c.314A>T (p.His105Leu)
9g.36246318T>CCA10605885CLTA,GNEc.422A>G (p.His141Arg)
c.152A>G (p.His51Arg)
c.329A>G (p.His110Arg)
c.486-16880T>C (n.486-16880T>C)
c.314A>G (p.His105Arg)
 ClinVar dbSNP gnomAD v4
9g.36246318T>GCA373419459CLTA,GNEc.422A>C (p.His141Pro)
c.152A>C (p.His51Pro)
c.329A>C (p.His110Pro)
c.486-16880T>G (n.486-16880T>G)
c.314A>C (p.His105Pro)
9g.36246318T=CA1846320917CLTA,GNEc.422A= (p.His141=)
c.152A= (p.His51=)
c.329A= (p.His110=)
c.486-16880T= (n.486-16880T=)
c.314A= (p.His105=)
9g.36246319G>ACA373419472CLTA,GNEc.421C>T (p.His141Tyr)
c.151C>T (p.His51Tyr)
c.328C>T (p.His110Tyr)
c.486-16879G>A (n.486-16879G>A)
c.313C>T (p.His105Tyr)
9g.36246319G>CCA373419470CLTA,GNEc.421C>G (p.His141Asp)
c.151C>G (p.His51Asp)
c.328C>G (p.His110Asp)
c.486-16879G>C (n.486-16879G>C)
c.313C>G (p.His105Asp)
 ClinVar dbSNP
9g.36246319G>TCA373419464CLTA,GNEc.421C>A (p.His141Asn)
c.151C>A (p.His51Asn)
c.328C>A (p.His110Asn)
c.486-16879G>T (n.486-16879G>T)
c.313C>A (p.His105Asn)

Number of alleles fetched