Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched