Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102855177_102855353delCA16020833PAHc.510-19_667del
c.495-19_652del
n.606-19_763del
12g.102855316G>ACA275338PAHc.526C>T (p.Arg176Ter)
c.511C>T (p.Arg171Ter)
n.622C>T
n.547C>T
ClinVar dbSNP ExAC gnomAD
12g.102855316G>CCA386297012PAHc.526C>G (p.Arg176Gly)
c.511C>G (p.Arg171Gly)
n.622C>G
n.547C>G
12g.102855316G=CA2059449829PAHc.526C= (p.Arg176=)
c.511C= (p.Arg171=)
n.622C=
n.547C=
12g.102855316G>TCA481578629PAHc.526C>A (p.Arg176=)
c.511C>A (p.Arg171=)
n.622C>A
n.547C>A
12g.102855317A>CCA481578630PAHc.525T>G (p.Pro175=)
c.510T>G (p.Pro170=)
n.621T>G
n.546T>G
12g.102855317A>GCA481578631PAHc.525T>C (p.Pro175=)
c.510T>C (p.Pro170=)
n.621T>C
n.546T>C
12g.102855317A>TCA481578632PAHc.525T>A (p.Pro175=)
c.510T>A (p.Pro170=)
n.621T>A
n.546T>A
12g.102855318G>ACA386297015PAHc.524C>T (p.Pro175Leu)
c.509C>T (p.Pro170Leu)
n.620C>T
n.545C>T
COSMIC
12g.102855318G>CCA386297017PAHc.524C>G (p.Pro175Arg)
c.509C>G (p.Pro170Arg)
n.620C>G
n.545C>G
12g.102855318G=CA2059449835PAHc.524C= (p.Pro175=)
c.509C= (p.Pro170=)
n.620C=
n.545C=
12g.102855318G>TCA386297019PAHc.524C>A (p.Pro175His)
c.509C>A (p.Pro170His)
n.620C>A
n.545C>A
12g.102855319G>ACA16020810PAHc.523C>T (p.Pro175Ser)
c.508C>T (p.Pro170Ser)
n.619C>T
n.544C>T
ClinVar
12g.102855319G>CCA229605PAHc.523C>G (p.Pro175Ala)
c.508C>G (p.Pro170Ala)
n.619C>G
n.544C>G
ClinVar dbSNP
12g.102855319G=CA2059449844PAHc.523C= (p.Pro175=)
c.508C= (p.Pro170=)
n.619C=
n.544C=
12g.102855319G>TCA386297022PAHc.523C>A (p.Pro175Thr)
c.508C>A (p.Pro170Thr)
n.619C>A
n.544C>A
12g.102855320G>ACA481578633PAHc.522C>T (p.Ile174=)
c.507C>T (p.Ile169=)
n.618C>T
n.543C>T
COSMIC
12g.102855320G>CCA386297026PAHc.522C>G (p.Ile174Met)
c.507C>G (p.Ile169Met)
n.618C>G
n.543C>G
12g.102855320G>TCA481578634PAHc.522C>A (p.Ile174=)
c.507C>A (p.Ile169=)
n.618C>A
n.543C>A
12g.102855321A=CA2059449854PAHc.521T= (p.Ile174=)
c.506T= (p.Ile169=)
n.617T=
n.542T=
12g.102855321A>CCA386297029PAHc.521T>G (p.Ile174Ser)
c.506T>G (p.Ile169Ser)
n.617T>G
n.542T>G
12g.102855321A>GCA229604PAHc.521T>C (p.Ile174Thr)
c.506T>C (p.Ile169Thr)
n.617T>C
n.542T>C
ClinVar dbSNP
12g.102855321A>TCA6748896PAHc.521T>A (p.Ile174Asn)
c.506T>A (p.Ile169Asn)
n.617T>A
n.542T>A
dbSNP ExAC gnomAD
12g.102855322T>ACA386297033PAHc.520A>T (p.Ile174Phe)
c.505A>T (p.Ile169Phe)
n.616A>T
n.541A>T
12g.102855322T>CCA229603PAHc.520A>G (p.Ile174Val)
c.505A>G (p.Ile169Val)
n.616A>G
n.541A>G
ClinVar dbSNP
12g.102855322T>GCA386297036PAHc.520A>C (p.Ile174Leu)
c.505A>C (p.Ile169Leu)
n.616A>C
n.541A>C
12g.102855322T=CA2059449865PAHc.520A= (p.Ile174=)
c.505A= (p.Ile169=)
n.616A=
n.541A=
12g.102855323G>ACA481578635PAHc.519C>T (p.Pro173=)
c.504C>T (p.Pro168=)
n.615C>T
n.540C>T
12g.102855323G>CCA481578636PAHc.519C>G (p.Pro173=)
c.504C>G (p.Pro168=)
n.615C>G
n.540C>G
12g.102855323G>TCA481578637PAHc.519C>A (p.Pro173=)
c.504C>A (p.Pro168=)
n.615C>A
n.540C>A
12g.102855324G>ACA386297038PAHc.518C>T (p.Pro173Leu)
c.503C>T (p.Pro168Leu)
n.614C>T
n.539C>T
12g.102855324G>CCA386297039PAHc.518C>G (p.Pro173Arg)
c.503C>G (p.Pro168Arg)
n.614C>G
n.539C>G
12g.102855324G>TCA386297041PAHc.518C>A (p.Pro173His)
c.503C>A (p.Pro168His)
n.614C>A
n.539C>A
12g.102855325G>ACA386297043PAHc.517C>T (p.Pro173Ser)
c.502C>T (p.Pro168Ser)
n.613C>T
n.538C>T
12g.102855325G>CCA386297044PAHc.517C>G (p.Pro173Ala)
c.502C>G (p.Pro168Ala)
n.613C>G
n.538C>G
12g.102855325G=CA2059449872PAHc.517C= (p.Pro173=)
c.502C= (p.Pro168=)
n.613C=
n.538C=
12g.102855325G>TCA229602PAHc.517C>A (p.Pro173Thr)
c.502C>A (p.Pro168Thr)
n.613C>A
n.538C>A
ClinVar dbSNP
12g.102855326C>ACA6748897PAHc.516G>T (p.Gln172His)
c.501G>T (p.Gln167His)
n.612G>T
n.537G>T
ClinVar dbSNP ExAC gnomAD
12g.102855326C=CA2059449878PAHc.516G= (p.Gln172=)
c.501G= (p.Gln167=)
n.612G=
n.537G=
12g.102855326C>GCA386297046PAHc.516G>C (p.Gln172His)
c.501G>C (p.Gln167His)
n.612G>C
n.537G>C
ClinVar
12g.102855326C>TCA481578638PAHc.516G>A (p.Gln172=)
c.501G>A (p.Gln167=)
n.612G>A
n.537G>A
12g.102855327T>ACA386297047PAHc.515A>T (p.Gln172Leu)
c.500A>T (p.Gln167Leu)
n.611A>T
n.536A>T
12g.102855327T>CCA386297051PAHc.515A>G (p.Gln172Arg)
c.500A>G (p.Gln167Arg)
n.611A>G
n.536A>G
12g.102855327T>GCA386297049PAHc.515A>C (p.Gln172Pro)
c.500A>C (p.Gln167Pro)
n.611A>C
n.536A>C
12g.102855328G>ACA229600PAHc.514C>T (p.Gln172Ter)
c.499C>T (p.Gln167Ter)
n.610C>T
n.535C>T
ClinVar dbSNP
12g.102855328G>CCA386297056PAHc.514C>G (p.Gln172Glu)
c.499C>G (p.Gln167Glu)
n.610C>G
n.535C>G
12g.102855328G=CA2059449889PAHc.514C= (p.Gln172=)
c.499C= (p.Gln167=)
n.610C=
n.535C=
12g.102855328G>TCA386297054PAHc.514C>A (p.Gln172Lys)
c.499C>A (p.Gln167Lys)
n.610C>A
n.535C>A
12g.102855329C>ACA6748898PAHc.513G>T (p.Gly171=)
c.498G>T (p.Gly166=)
n.609G>T
n.534G>T
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched