Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.15845901A>CCA412458909AP1S2c.288+2T>G (n.288+2T>G)
c.156+2T>G (n.156+2T>G)
c.266+2T>G
c.277+2T>G
c.414+2T>G (n.414+2T>G)
n.567+2T>G
n.502+2T>G
n.338+2T>G
n.414+2T>G
Xg.15845901A>GCA412458908AP1S2c.288+2T>C (n.288+2T>C)
c.156+2T>C (n.156+2T>C)
c.266+2T>C
c.277+2T>C
c.414+2T>C (n.414+2T>C)
n.567+2T>C
n.502+2T>C
n.338+2T>C
n.414+2T>C
Xg.15845901A>TCA412458907AP1S2c.288+2T>A (n.288+2T>A)
c.156+2T>A (n.156+2T>A)
c.266+2T>A
c.277+2T>A
c.414+2T>A (n.414+2T>A)
n.567+2T>A
n.502+2T>A
n.338+2T>A
n.414+2T>A
Xg.15845902C>ACA412458910AP1S2c.288+1G>T (n.288+1G>T)
c.156+1G>T (n.156+1G>T)
c.266+1G>T
c.277+1G>T
c.414+1G>T (n.414+1G>T)
n.567+1G>T
n.502+1G>T
n.338+1G>T
n.414+1G>T
Xg.15845902C>GCA412458911AP1S2c.288+1G>C (n.288+1G>C)
c.156+1G>C (n.156+1G>C)
c.266+1G>C
c.277+1G>C
c.414+1G>C (n.414+1G>C)
n.567+1G>C
n.502+1G>C
n.338+1G>C
n.414+1G>C
Xg.15845902C>TCA412458912AP1S2c.288+1G>A (n.288+1G>A)
c.156+1G>A (n.156+1G>A)
c.266+1G>A
c.277+1G>A
c.414+1G>A (n.414+1G>A)
n.567+1G>A
n.502+1G>A
n.338+1G>A
n.414+1G>A
 ClinVar
Xg.15845903A=CA2417072535AP1S2c.288T= (p.Ser96=)
c.156T= (p.Ser52=)
c.266T=
c.277T=
c.414T= (p.Ser138=)
n.567T=
n.502T=
n.338T=
n.414T=
Xg.15845903A>CCA412458913AP1S2c.288T>G (p.Ser96Arg)
c.156T>G (p.Ser52Arg)
c.266T>G
c.277T>G
c.414T>G (p.Ser138Arg)
n.567T>G
n.502T>G
n.338T>G
n.414T>G
Xg.15845903A>GCA171101AP1S2c.288T>C (p.Ser96=)
c.156T>C (p.Ser52=)
c.266T>C
c.277T>C
c.414T>C (p.Ser138=)
n.567T>C
n.502T>C
n.338T>C
n.414T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845903A>TCA412458914AP1S2c.288T>A (p.Ser96Arg)
c.156T>A (p.Ser52Arg)
c.266T>A
c.277T>A
c.414T>A (p.Ser138Arg)
n.567T>A
n.502T>A
n.338T>A
n.414T>A
Xg.15845904C>ACA412458915AP1S2c.287G>T (p.Ser96Ile)
c.155G>T (p.Ser52Ile)
c.265G>T
c.276G>T
c.413G>T (p.Ser138Ile)
n.566G>T
n.501G>T
n.337G>T
n.413G>T
Xg.15845904C>GCA412458916AP1S2c.287G>C (p.Ser96Thr)
c.155G>C (p.Ser52Thr)
c.265G>C
c.276G>C
c.413G>C (p.Ser138Thr)
n.566G>C
n.501G>C
n.337G>C
n.413G>C
Xg.15845904C>TCA412458917AP1S2c.287G>A (p.Ser96Asn)
c.155G>A (p.Ser52Asn)
c.265G>A
c.276G>A
c.413G>A (p.Ser138Asn)
n.566G>A
n.501G>A
n.337G>A
n.413G>A
Xg.15845905T>ACA412458918AP1S2c.286A>T (p.Ser96Cys)
c.154A>T (p.Ser52Cys)
c.264A>T
c.275A>T
c.412A>T (p.Ser138Cys)
n.565A>T
n.500A>T
n.336A>T
n.412A>T
 gnomAD v4
Xg.15845905T>CCA412458919AP1S2c.286A>G (p.Ser96Gly)
c.154A>G (p.Ser52Gly)
c.264A>G
c.275A>G
c.412A>G (p.Ser138Gly)
n.565A>G
n.500A>G
n.336A>G
n.412A>G
 gnomAD v4
Xg.15845905T>GCA412458920AP1S2c.286A>C (p.Ser96Arg)
c.154A>C (p.Ser52Arg)
c.264A>C
c.275A>C
c.412A>C (p.Ser138Arg)
n.565A>C
n.500A>C
n.336A>C
n.412A>C
Xg.15845906G>ACA515562692AP1S2c.285C>T (p.Gly95=)
c.153C>T (p.Gly51=)
c.263C>T
c.274C>T
c.411C>T (p.Gly137=)
n.564C>T
n.499C>T
n.335C>T
n.411C>T
Xg.15845906G>CCA515562693AP1S2c.285C>G (p.Gly95=)
c.153C>G (p.Gly51=)
c.263C>G
c.274C>G
c.411C>G (p.Gly137=)
n.564C>G
n.499C>G
n.335C>G
n.411C>G
Xg.15845906G>TCA515562694AP1S2c.285C>A (p.Gly95=)
c.153C>A (p.Gly51=)
c.263C>A
c.274C>A
c.411C>A (p.Gly137=)
n.564C>A
n.499C>A
n.335C>A
n.411C>A
Xg.15845907C>ACA412458921AP1S2c.284G>T (p.Gly95Val)
c.152G>T (p.Gly51Val)
c.262G>T
c.273G>T
c.410G>T (p.Gly137Val)
n.563G>T
n.498G>T
n.334G>T
n.410G>T
Xg.15845907C>GCA412458923AP1S2c.284G>C (p.Gly95Ala)
c.152G>C (p.Gly51Ala)
c.262G>C
c.273G>C
c.410G>C (p.Gly137Ala)
n.563G>C
n.498G>C
n.334G>C
n.410G>C
Xg.15845907C>TCA412458922AP1S2c.284G>A (p.Gly95Asp)
c.152G>A (p.Gly51Asp)
c.262G>A
c.273G>A
c.410G>A (p.Gly137Asp)
n.563G>A
n.498G>A
n.334G>A
n.410G>A
Xg.15845908C>ACA412458924AP1S2c.283G>T (p.Gly95Cys)
c.151G>T (p.Gly51Cys)
c.261G>T
c.272G>T
c.409G>T (p.Gly137Cys)
n.562G>T
n.497G>T
n.333G>T
n.409G>T
Xg.15845908C>GCA412458925AP1S2c.283G>C (p.Gly95Arg)
c.151G>C (p.Gly51Arg)
c.261G>C
c.272G>C
c.409G>C (p.Gly137Arg)
n.562G>C
n.497G>C
n.333G>C
n.409G>C
Xg.15845908C>TCA412458926AP1S2c.283G>A (p.Gly95Ser)
c.151G>A (p.Gly51Ser)
c.261G>A
c.272G>A
c.409G>A (p.Gly137Ser)
n.562G>A
n.497G>A
n.333G>A
n.409G>A
 gnomAD v4
Xg.15845909G>ACA515562695AP1S2c.282C>T (p.Phe94=)
c.150C>T (p.Phe50=)
c.260C>T
c.271C>T
c.408C>T (p.Phe136=)
n.561C>T
n.496C>T
n.332C>T
n.408C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.15845909G>CCA412458927AP1S2c.282C>G (p.Phe94Leu)
c.150C>G (p.Phe50Leu)
c.260C>G
c.271C>G
c.408C>G (p.Phe136Leu)
n.561C>G
n.496C>G
n.332C>G
n.408C>G
Xg.15845909G=CA2417072536AP1S2c.282C= (p.Phe94=)
c.150C= (p.Phe50=)
c.260C=
c.271C=
c.408C= (p.Phe136=)
n.561C=
n.496C=
n.332C=
n.408C=
Xg.15845909G>TCA412458928AP1S2c.282C>A (p.Phe94Leu)
c.150C>A (p.Phe50Leu)
c.260C>A
c.271C>A
c.408C>A (p.Phe136Leu)
n.561C>A
n.496C>A
n.332C>A
n.408C>A
 gnomAD v4
Xg.15845909_15845910delinsGACA2417072537AP1S2c.281_282delinsTC (p.Phe94=)
c.149_150delinsTC (p.Phe50=)
c.259_260delinsTC
c.270_271delinsTC
c.407_408delinsTC (p.Phe136=)
n.560_561delinsTC
n.495_496delinsTC
n.331_332delinsTC
n.407_408delinsTC
Xg.15845910A>CCA412458929AP1S2c.281T>G (p.Phe94Cys)
c.149T>G (p.Phe50Cys)
c.259T>G
c.270T>G
c.407T>G (p.Phe136Cys)
n.560T>G
n.495T>G
n.331T>G
n.407T>G
Xg.15845910A>GCA412458930AP1S2c.281T>C (p.Phe94Ser)
c.149T>C (p.Phe50Ser)
c.259T>C
c.270T>C
c.407T>C (p.Phe136Ser)
n.560T>C
n.495T>C
n.331T>C
n.407T>C
Xg.15845910A>TCA412458931AP1S2c.281T>A (p.Phe94Tyr)
c.149T>A (p.Phe50Tyr)
c.259T>A
c.270T>A
c.407T>A (p.Phe136Tyr)
n.560T>A
n.495T>A
n.331T>A
n.407T>A
Xg.15845912delCA645372675AP1S2c.281del (p.Phe94SerfsTer7)
c.149del (p.Phe50SerfsTer7)
c.259del
c.270del
c.407del (p.Phe136SerfsTer7)
n.560del
n.495del
n.331del
n.407del
 ClinVar dbSNP
Xg.15845911A>CCA412458932AP1S2c.280T>G (p.Phe94Val)
c.148T>G (p.Phe50Val)
c.258T>G
c.269T>G
c.406T>G (p.Phe136Val)
n.559T>G
n.494T>G
n.330T>G
n.406T>G
Xg.15845911A>GCA412458933AP1S2c.280T>C (p.Phe94Leu)
c.148T>C (p.Phe50Leu)
c.258T>C
c.269T>C
c.406T>C (p.Phe136Leu)
n.559T>C
n.494T>C
n.330T>C
n.406T>C
 gnomAD v4
Xg.15845911A>TCA412458934AP1S2c.280T>A (p.Phe94Ile)
c.148T>A (p.Phe50Ile)
c.258T>A
c.269T>A
c.406T>A (p.Phe136Ile)
n.559T>A
n.494T>A
n.330T>A
n.406T>A
Xg.15845912A=CA2417072538AP1S2c.279T= (p.Tyr93=)
c.147T= (p.Tyr49=)
c.257T=
c.268T=
c.405T= (p.Tyr135=)
n.558T=
n.493T=
n.329T=
n.405T=
Xg.15845912A>CCA412458935AP1S2c.279T>G (p.Tyr93Ter)
c.147T>G (p.Tyr49Ter)
c.257T>G
c.268T>G
c.405T>G (p.Tyr135Ter)
n.558T>G
n.493T>G
n.329T>G
n.405T>G
Xg.15845912A>GCA515562697AP1S2c.279T>C (p.Tyr93=)
c.147T>C (p.Tyr49=)
c.257T>C
c.268T>C
c.405T>C (p.Tyr135=)
n.558T>C
n.493T>C
n.329T>C
n.405T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845912A>TCA412458936AP1S2c.279T>A (p.Tyr93Ter)
c.147T>A (p.Tyr49Ter)
c.257T>A
c.268T>A
c.405T>A (p.Tyr135Ter)
n.558T>A
n.493T>A
n.329T>A
n.405T>A
Xg.15845913T>ACA412458939AP1S2c.278A>T (p.Tyr93Phe)
c.146A>T (p.Tyr49Phe)
c.256A>T
c.267A>T
c.404A>T (p.Tyr135Phe)
n.557A>T
n.492A>T
n.328A>T
n.404A>T
Xg.15845913T>CCA412458938AP1S2c.278A>G (p.Tyr93Cys)
c.146A>G (p.Tyr49Cys)
c.256A>G
c.267A>G
c.404A>G (p.Tyr135Cys)
n.557A>G
n.492A>G
n.328A>G
n.404A>G
Xg.15845913T>GCA412458937AP1S2c.278A>C (p.Tyr93Ser)
c.146A>C (p.Tyr49Ser)
c.256A>C
c.267A>C
c.404A>C (p.Tyr135Ser)
n.557A>C
n.492A>C
n.328A>C
n.404A>C
Xg.15845914A>CCA412458940AP1S2c.277T>G (p.Tyr93Asp)
c.145T>G (p.Tyr49Asp)
c.255T>G
c.266T>G
c.403T>G (p.Tyr135Asp)
n.556T>G
n.491T>G
n.327T>G
n.403T>G
Xg.15845914A>GCA412458941AP1S2c.277T>C (p.Tyr93His)
c.145T>C (p.Tyr49His)
c.255T>C
c.266T>C
c.403T>C (p.Tyr135His)
n.556T>C
n.491T>C
n.327T>C
n.403T>C
Xg.15845914A>TCA412458942AP1S2c.277T>A (p.Tyr93Asn)
c.145T>A (p.Tyr49Asn)
c.255T>A
c.266T>A
c.403T>A (p.Tyr135Asn)
n.556T>A
n.491T>A
n.327T>A
n.403T>A
Xg.15845915C>ACA412458943AP1S2c.276G>T (p.Lys92Asn)
c.144G>T (p.Lys48Asn)
c.254G>T
c.265G>T
c.402G>T (p.Lys134Asn)
n.555G>T
n.490G>T
n.326G>T
n.402G>T
Xg.15845915C=CA2417072539AP1S2c.276G= (p.Lys92=)
c.144G= (p.Lys48=)
c.254G=
c.265G=
c.402G= (p.Lys134=)
n.555G=
n.490G=
n.326G=
n.402G=
Xg.15845915C>GCA412458944AP1S2c.276G>C (p.Lys92Asn)
c.144G>C (p.Lys48Asn)
c.254G>C
c.265G>C
c.402G>C (p.Lys134Asn)
n.555G>C
n.490G>C
n.326G>C
n.402G>C
Xg.15845915C>TCA10356452AP1S2c.276G>A (p.Lys92=)
c.144G>A (p.Lys48=)
c.254G>A
c.265G>A
c.402G>A (p.Lys134=)
n.555G>A
n.490G>A
n.326G>A
n.402G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845916T>ACA412458945AP1S2c.275A>T (p.Lys92Met)
c.143A>T (p.Lys48Met)
c.253A>T
c.264A>T
c.401A>T (p.Lys134Met)
n.554A>T
n.489A>T
n.325A>T
n.401A>T
Xg.15845916T>CCA412458946AP1S2c.275A>G (p.Lys92Arg)
c.143A>G (p.Lys48Arg)
c.253A>G
c.264A>G
c.401A>G (p.Lys134Arg)
n.554A>G
n.489A>G
n.325A>G
n.401A>G
 dbSNP
Xg.15845916T>GCA412458947AP1S2c.275A>C (p.Lys92Thr)
c.143A>C (p.Lys48Thr)
c.253A>C
c.264A>C
c.401A>C (p.Lys134Thr)
n.554A>C
n.489A>C
n.325A>C
n.401A>C
Xg.15845916T=CA2417072540AP1S2c.275A= (p.Lys92=)
c.143A= (p.Lys48=)
c.253A=
c.264A=
c.401A= (p.Lys134=)
n.554A=
n.489A=
n.325A=
n.401A=
Xg.15845917T>ACA412458948AP1S2c.274A>T (p.Lys92Ter)
c.142A>T (p.Lys48Ter)
c.252A>T
c.263A>T
c.400A>T (p.Lys134Ter)
n.553A>T
n.488A>T
n.324A>T
n.400A>T
Xg.15845917T>CCA412458949AP1S2c.274A>G (p.Lys92Glu)
c.142A>G (p.Lys48Glu)
c.252A>G
c.263A>G
c.400A>G (p.Lys134Glu)
n.553A>G
n.488A>G
n.324A>G
n.400A>G
Xg.15845917T>GCA412458950AP1S2c.274A>C (p.Lys92Gln)
c.142A>C (p.Lys48Gln)
c.252A>C
c.263A>C
c.400A>C (p.Lys134Gln)
n.553A>C
n.488A>C
n.324A>C
n.400A>C
Xg.15845918G>ACA515562699AP1S2c.273C>T (p.Asp91=)
c.141C>T (p.Asp47=)
c.251C>T
c.262C>T
c.399C>T (p.Asp133=)
n.552C>T
n.487C>T
n.323C>T
n.399C>T
Xg.15845918G>CCA412458951AP1S2c.273C>G (p.Asp91Glu)
c.141C>G (p.Asp47Glu)
c.251C>G
c.262C>G
c.399C>G (p.Asp133Glu)
n.552C>G
n.487C>G
n.323C>G
n.399C>G
Xg.15845918G>TCA412458952AP1S2c.273C>A (p.Asp91Glu)
c.141C>A (p.Asp47Glu)
c.251C>A
c.262C>A
c.399C>A (p.Asp133Glu)
n.552C>A
n.487C>A
n.323C>A
n.399C>A
 gnomAD v4
Xg.15845919T>ACA412458954AP1S2c.272A>T (p.Asp91Val)
c.140A>T (p.Asp47Val)
c.250A>T
c.261A>T
c.398A>T (p.Asp133Val)
n.551A>T
n.486A>T
n.322A>T
n.398A>T
Xg.15845919T>CCA412458955AP1S2c.272A>G (p.Asp91Gly)
c.140A>G (p.Asp47Gly)
c.250A>G
c.261A>G
c.398A>G (p.Asp133Gly)
n.551A>G
n.486A>G
n.322A>G
n.398A>G
Xg.15845919T>GCA412458953AP1S2c.272A>C (p.Asp91Ala)
c.140A>C (p.Asp47Ala)
c.250A>C
c.261A>C
c.398A>C (p.Asp133Ala)
n.551A>C
n.486A>C
n.322A>C
n.398A>C
Xg.15845920C>ACA412458956AP1S2c.271G>T (p.Asp91Tyr)
c.139G>T (p.Asp47Tyr)
c.249G>T
c.260G>T
c.397G>T (p.Asp133Tyr)
n.550G>T
n.485G>T
n.321G>T
n.397G>T
Xg.15845920C>GCA412458957AP1S2c.271G>C (p.Asp91His)
c.139G>C (p.Asp47His)
c.249G>C
c.260G>C
c.397G>C (p.Asp133His)
n.550G>C
n.485G>C
n.321G>C
n.397G>C
Xg.15845920C>TCA412458958AP1S2c.271G>A (p.Asp91Asn)
c.139G>A (p.Asp47Asn)
c.249G>A
c.260G>A
c.397G>A (p.Asp133Asn)
n.550G>A
n.485G>A
n.321G>A
n.397G>A
Xg.15845921A>CCA515562701AP1S2c.270T>G (p.Leu90=)
c.138T>G (p.Leu46=)
c.248T>G
c.259T>G
c.396T>G (p.Leu132=)
n.549T>G
n.484T>G
n.320T>G
n.396T>G
Xg.15845921A>GCA515562703AP1S2c.270T>C (p.Leu90=)
c.138T>C (p.Leu46=)
c.248T>C
c.259T>C
c.396T>C (p.Leu132=)
n.549T>C
n.484T>C
n.320T>C
n.396T>C
Xg.15845921A>TCA515562702AP1S2c.270T>A (p.Leu90=)
c.138T>A (p.Leu46=)
c.248T>A
c.259T>A
c.396T>A (p.Leu132=)
n.549T>A
n.484T>A
n.320T>A
n.396T>A
Xg.15845922A>CCA412458959AP1S2c.269T>G (p.Leu90Arg)
c.137T>G (p.Leu46Arg)
c.247T>G
c.258T>G
c.395T>G (p.Leu132Arg)
n.548T>G
n.483T>G
n.319T>G
n.395T>G
Xg.15845922A>GCA412458960AP1S2c.269T>C (p.Leu90Pro)
c.137T>C (p.Leu46Pro)
c.247T>C
c.258T>C
c.395T>C (p.Leu132Pro)
n.548T>C
n.483T>C
n.319T>C
n.395T>C
Xg.15845922A>TCA412458961AP1S2c.269T>A (p.Leu90His)
c.137T>A (p.Leu46His)
c.247T>A
c.258T>A
c.395T>A (p.Leu132His)
n.548T>A
n.483T>A
n.319T>A
n.395T>A
Xg.15845923G>ACA412458962AP1S2c.268C>T (p.Leu90Phe)
c.136C>T (p.Leu46Phe)
c.246C>T
c.257C>T
c.394C>T (p.Leu132Phe)
n.547C>T
n.482C>T
n.318C>T
n.394C>T
 dbSNP COSMIC
Xg.15845923G>CCA412458963AP1S2c.268C>G (p.Leu90Val)
c.136C>G (p.Leu46Val)
c.246C>G
c.257C>G
c.394C>G (p.Leu132Val)
n.547C>G
n.482C>G
n.318C>G
n.394C>G
Xg.15845923G=CA2417072541AP1S2c.268C= (p.Leu90=)
c.136C= (p.Leu46=)
c.246C=
c.257C=
c.394C= (p.Leu132=)
n.547C=
n.482C=
n.318C=
n.394C=
Xg.15845923G>TCA412458964AP1S2c.268C>A (p.Leu90Ile)
c.136C>A (p.Leu46Ile)
c.246C>A
c.257C>A
c.394C>A (p.Leu132Ile)
n.547C>A
n.482C>A
n.318C>A
n.394C>A
Xg.15845924T>ACA412458965AP1S2c.267A>T (p.Leu89Phe)
c.135A>T (p.Leu45Phe)
c.245A>T
c.256A>T
c.393A>T (p.Leu131Phe)
n.546A>T
n.481A>T
n.317A>T
n.393A>T
Xg.15845924T>CCA515562706AP1S2c.267A>G (p.Leu89=)
c.135A>G (p.Leu45=)
c.245A>G
c.256A>G
c.393A>G (p.Leu131=)
n.546A>G
n.481A>G
n.317A>G
n.393A>G
 gnomAD v4
Xg.15845924T>GCA412458966AP1S2c.267A>C (p.Leu89Phe)
c.135A>C (p.Leu45Phe)
c.245A>C
c.256A>C
c.393A>C (p.Leu131Phe)
n.546A>C
n.481A>C
n.317A>C
n.393A>C
Xg.15845925A>CCA412458969AP1S2c.266T>G (p.Leu89Ter)
c.134T>G (p.Leu45Ter)
c.244T>G
c.255T>G
c.392T>G (p.Leu131Ter)
n.545T>G
n.480T>G
n.316T>G
n.392T>G
Xg.15845925A>GCA412458968AP1S2c.266T>C (p.Leu89Ser)
c.134T>C (p.Leu45Ser)
c.244T>C
c.255T>C
c.392T>C (p.Leu131Ser)
n.545T>C
n.480T>C
n.316T>C
n.392T>C
Xg.15845925A>TCA412458967AP1S2c.266T>A (p.Leu89Ter)
c.134T>A (p.Leu45Ter)
c.244T>A
c.255T>A
c.392T>A (p.Leu131Ter)
n.545T>A
n.480T>A
n.316T>A
n.392T>A
Xg.15845926A>CCA412458970AP1S2c.265T>G (p.Leu89Val)
c.133T>G (p.Leu45Val)
c.243T>G
c.254T>G
c.391T>G (p.Leu131Val)
n.544T>G
n.479T>G
n.315T>G
n.391T>G
Xg.15845926A>GCA515562708AP1S2c.265T>C (p.Leu89=)
c.133T>C (p.Leu45=)
c.243T>C
c.254T>C
c.391T>C (p.Leu131=)
n.544T>C
n.479T>C
n.315T>C
n.391T>C
Xg.15845926A>TCA412458971AP1S2c.265T>A (p.Leu89Ile)
c.133T>A (p.Leu45Ile)
c.243T>A
c.254T>A
c.391T>A (p.Leu131Ile)
n.544T>A
n.479T>A
n.315T>A
n.391T>A
Xg.15845927T>ACA412458972AP1S2c.264A>T (p.Glu88Asp)
c.132A>T (p.Glu44Asp)
c.242A>T
c.253A>T
c.390A>T (p.Glu130Asp)
n.543A>T
n.478A>T
n.314A>T
n.390A>T
Xg.15845927T>CCA515562709AP1S2c.264A>G (p.Glu88=)
c.132A>G (p.Glu44=)
c.242A>G
c.253A>G
c.390A>G (p.Glu130=)
n.543A>G
n.478A>G
n.314A>G
n.390A>G
Xg.15845927T>GCA412458973AP1S2c.264A>C (p.Glu88Asp)
c.132A>C (p.Glu44Asp)
c.242A>C
c.253A>C
c.390A>C (p.Glu130Asp)
n.543A>C
n.478A>C
n.314A>C
n.390A>C
Xg.15845928T>ACA412458974AP1S2c.263A>T (p.Glu88Val)
c.131A>T (p.Glu44Val)
c.241A>T
c.252A>T
c.389A>T (p.Glu130Val)
n.542A>T
n.477A>T
n.313A>T
n.389A>T
Xg.15845928T>CCA412458975AP1S2c.263A>G (p.Glu88Gly)
c.131A>G (p.Glu44Gly)
c.241A>G
c.252A>G
c.389A>G (p.Glu130Gly)
n.542A>G
n.477A>G
n.313A>G
n.389A>G
Xg.15845928T>GCA412458976AP1S2c.263A>C (p.Glu88Ala)
c.131A>C (p.Glu44Ala)
c.241A>C
c.252A>C
c.389A>C (p.Glu130Ala)
n.542A>C
n.477A>C
n.313A>C
n.389A>C
Xg.15845929C>ACA412458977AP1S2c.262G>T (p.Glu88Ter)
c.130G>T (p.Glu44Ter)
c.240G>T
c.251G>T
c.388G>T (p.Glu130Ter)
n.541G>T
n.476G>T
n.312G>T
n.388G>T
 gnomAD v4
Xg.15845929C>GCA412458978AP1S2c.262G>C (p.Glu88Gln)
c.130G>C (p.Glu44Gln)
c.240G>C
c.251G>C
c.388G>C (p.Glu130Gln)
n.541G>C
n.476G>C
n.312G>C
n.388G>C
Xg.15845929C>TCA412458979AP1S2c.262G>A (p.Glu88Lys)
c.130G>A (p.Glu44Lys)
c.240G>A
c.251G>A
c.388G>A (p.Glu130Lys)
n.541G>A
n.476G>A
n.312G>A
n.388G>A
Xg.15845930C>ACA515562713AP1S2c.261G>T (p.Val87=)
c.129G>T (p.Val43=)
c.239G>T
c.250G>T
c.387G>T (p.Val129=)
n.540G>T
n.475G>T
n.311G>T
n.387G>T
Xg.15845930C>GCA515562714AP1S2c.261G>C (p.Val87=)
c.129G>C (p.Val43=)
c.239G>C
c.250G>C
c.387G>C (p.Val129=)
n.540G>C
n.475G>C
n.311G>C
n.387G>C
Xg.15845930C>TCA515562715AP1S2c.261G>A (p.Val87=)
c.129G>A (p.Val43=)
c.239G>A
c.250G>A
c.387G>A (p.Val129=)
n.540G>A
n.475G>A
n.311G>A
n.387G>A
Xg.15845931A>CCA412458980AP1S2c.260T>G (p.Val87Gly)
c.128T>G (p.Val43Gly)
c.238T>G
c.249T>G
c.386T>G (p.Val129Gly)
n.539T>G
n.474T>G
n.310T>G
n.386T>G
Xg.15845931A>GCA412458981AP1S2c.260T>C (p.Val87Ala)
c.128T>C (p.Val43Ala)
c.238T>C
c.249T>C
c.386T>C (p.Val129Ala)
n.539T>C
n.474T>C
n.310T>C
n.386T>C
Xg.15845931A>TCA412458982AP1S2c.260T>A (p.Val87Glu)
c.128T>A (p.Val43Glu)
c.238T>A
c.249T>A
c.386T>A (p.Val129Glu)
n.539T>A
n.474T>A
n.310T>A
n.386T>A
Xg.15845932C>ACA412458984AP1S2c.259G>T (p.Val87Leu)
c.127G>T (p.Val43Leu)
c.237G>T
c.248G>T
c.385G>T (p.Val129Leu)
n.538G>T
n.473G>T
n.309G>T
n.385G>T
Xg.15845932C>GCA412458985AP1S2c.259G>C (p.Val87Leu)
c.127G>C (p.Val43Leu)
c.237G>C
c.248G>C
c.385G>C (p.Val129Leu)
n.538G>C
n.473G>C
n.309G>C
n.385G>C
Xg.15845932C>TCA412458983AP1S2c.259G>A (p.Val87Met)
c.127G>A (p.Val43Met)
c.237G>A
c.248G>A
c.385G>A (p.Val129Met)
n.538G>A
n.473G>A
n.309G>A
n.385G>A
 ClinVar
Xg.15845933A=CA2417072542AP1S2c.258T= (p.Tyr86=)
c.126T= (p.Tyr42=)
c.236T=
c.247T=
c.384T= (p.Tyr128=)
n.537T=
n.472T=
n.308T=
n.384T=
Xg.15845933A>CCA412458987AP1S2c.258T>G (p.Tyr86Ter)
c.126T>G (p.Tyr42Ter)
c.236T>G
c.247T>G
c.384T>G (p.Tyr128Ter)
n.537T>G
n.472T>G
n.308T>G
n.384T>G
Xg.15845933A>GCA327137586AP1S2c.258T>C (p.Tyr86=)
c.126T>C (p.Tyr42=)
c.236T>C
c.247T>C
c.384T>C (p.Tyr128=)
n.537T>C
n.472T>C
n.308T>C
n.384T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.15845933A>TCA412458986AP1S2c.258T>A (p.Tyr86Ter)
c.126T>A (p.Tyr42Ter)
c.236T>A
c.247T>A
c.384T>A (p.Tyr128Ter)
n.537T>A
n.472T>A
n.308T>A
n.384T>A
Xg.15845934T>ACA412458989AP1S2c.257A>T (p.Tyr86Phe)
c.125A>T (p.Tyr42Phe)
c.235A>T
c.246A>T
c.383A>T (p.Tyr128Phe)
n.536A>T
n.471A>T
n.307A>T
n.383A>T
Xg.15845934T>CCA412458988AP1S2c.257A>G (p.Tyr86Cys)
c.125A>G (p.Tyr42Cys)
c.235A>G
c.246A>G
c.383A>G (p.Tyr128Cys)
n.536A>G
n.471A>G
n.307A>G
n.383A>G
Xg.15845934T>GCA412458990AP1S2c.257A>C (p.Tyr86Ser)
c.125A>C (p.Tyr42Ser)
c.235A>C
c.246A>C
c.383A>C (p.Tyr128Ser)
n.536A>C
n.471A>C
n.307A>C
n.383A>C
Xg.15845935A>CCA412458991AP1S2c.256T>G (p.Tyr86Asp)
c.124T>G (p.Tyr42Asp)
c.234T>G
c.245T>G
c.382T>G (p.Tyr128Asp)
n.535T>G
n.470T>G
n.306T>G
n.382T>G
Xg.15845935A>GCA412458993AP1S2c.256T>C (p.Tyr86His)
c.124T>C (p.Tyr42His)
c.234T>C
c.245T>C
c.382T>C (p.Tyr128His)
n.535T>C
n.470T>C
n.306T>C
n.382T>C
Xg.15845935A>TCA412458992AP1S2c.256T>A (p.Tyr86Asn)
c.124T>A (p.Tyr42Asn)
c.234T>A
c.245T>A
c.382T>A (p.Tyr128Asn)
n.535T>A
n.470T>A
n.306T>A
n.382T>A
Xg.15845936A>CCA515562720AP1S2c.255T>G (p.Arg85=)
c.123T>G (p.Arg41=)
c.233T>G
c.244T>G
c.381T>G (p.Arg127=)
n.534T>G
n.469T>G
n.305T>G
n.381T>G
Xg.15845936A>GCA515562721AP1S2c.255T>C (p.Arg85=)
c.123T>C (p.Arg41=)
c.233T>C
c.244T>C
c.381T>C (p.Arg127=)
n.534T>C
n.469T>C
n.305T>C
n.381T>C
Xg.15845936A>TCA515562722AP1S2c.255T>A (p.Arg85=)
c.123T>A (p.Arg41=)
c.233T>A
c.244T>A
c.381T>A (p.Arg127=)
n.534T>A
n.469T>A
n.305T>A
n.381T>A
Xg.15845937C>ACA412458994AP1S2c.254G>T (p.Arg85Leu)
c.122G>T (p.Arg41Leu)
c.232G>T
c.243G>T
c.380G>T (p.Arg127Leu)
n.533G>T
n.468G>T
n.304G>T
n.380G>T
Xg.15845937C=CA2417072543AP1S2c.254G= (p.Arg85=)
c.122G= (p.Arg41=)
c.232G=
c.243G=
c.380G= (p.Arg127=)
n.533G=
n.468G=
n.304G=
n.380G=
Xg.15845937C>GCA412458996AP1S2c.254G>C (p.Arg85Pro)
c.122G>C (p.Arg41Pro)
c.232G>C
c.243G>C
c.380G>C (p.Arg127Pro)
n.533G>C
n.468G>C
n.304G>C
n.380G>C
Xg.15845937C>TCA412458995AP1S2c.254G>A (p.Arg85His)
c.122G>A (p.Arg41His)
c.232G>A
c.243G>A
c.380G>A (p.Arg127His)
n.533G>A
n.468G>A
n.304G>A
n.380G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.15845938G>ACA412458997AP1S2c.253C>T (p.Arg85Cys)
c.121C>T (p.Arg41Cys)
c.231C>T
c.242C>T
c.379C>T (p.Arg127Cys)
n.532C>T
n.467C>T
n.303C>T
n.379C>T
 gnomAD v4
Xg.15845938G>CCA412458999AP1S2c.253C>G (p.Arg85Gly)
c.121C>G (p.Arg41Gly)
c.231C>G
c.242C>G
c.379C>G (p.Arg127Gly)
n.532C>G
n.467C>G
n.303C>G
n.379C>G
Xg.15845938G>TCA412458998AP1S2c.253C>A (p.Arg85Ser)
c.121C>A (p.Arg41Ser)
c.231C>A
c.242C>A
c.379C>A (p.Arg127Ser)
n.532C>A
n.467C>A
n.303C>A
n.379C>A
Xg.15845939A=CA2417072544AP1S2c.252T= (p.His84=)
c.120T= (p.His40=)
c.230T=
c.241T=
c.378T= (p.His126=)
n.531T=
n.466T=
n.302T=
n.378T=
Xg.15845939A>CCA412459000AP1S2c.252T>G (p.His84Gln)
c.120T>G (p.His40Gln)
c.230T>G
c.241T>G
c.378T>G (p.His126Gln)
n.531T>G
n.466T>G
n.302T>G
n.378T>G
Xg.15845939A>GCA233468AP1S2c.252T>C (p.His84=)
c.120T>C (p.His40=)
c.230T>C
c.241T>C
c.378T>C (p.His126=)
n.531T>C
n.466T>C
n.302T>C
n.378T>C
 ClinVar dbSNP
Xg.15845939A>TCA412459001AP1S2c.252T>A (p.His84Gln)
c.120T>A (p.His40Gln)
c.230T>A
c.241T>A
c.378T>A (p.His126Gln)
n.531T>A
n.466T>A
n.302T>A
n.378T>A
Xg.15845940T>ACA412459002AP1S2c.251A>T (p.His84Leu)
c.119A>T (p.His40Leu)
c.229A>T
c.240A>T
c.377A>T (p.His126Leu)
n.530A>T
n.465A>T
n.301A>T
n.377A>T
Xg.15845940T>CCA412459003AP1S2c.251A>G (p.His84Arg)
c.119A>G (p.His40Arg)
c.229A>G
c.240A>G
c.377A>G (p.His126Arg)
n.530A>G
n.465A>G
n.301A>G
n.377A>G
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.15845940T>GCA412459004AP1S2c.251A>C (p.His84Pro)
c.119A>C (p.His40Pro)
c.229A>C
c.240A>C
c.377A>C (p.His126Pro)
n.530A>C
n.465A>C
n.301A>C
n.377A>C
Xg.15845940T=CA2417072545AP1S2c.251A= (p.His84=)
c.119A= (p.His40=)
c.229A=
c.240A=
c.377A= (p.His126=)
n.530A=
n.465A=
n.301A=
n.377A=
Xg.15845941G>ACA412459005AP1S2c.250C>T (p.His84Tyr)
c.118C>T (p.His40Tyr)
c.228C>T
c.239C>T
c.376C>T (p.His126Tyr)
n.529C>T
n.464C>T
n.300C>T
n.376C>T
Xg.15845941G>CCA412459006AP1S2c.250C>G (p.His84Asp)
c.118C>G (p.His40Asp)
c.228C>G
c.239C>G
c.376C>G (p.His126Asp)
n.529C>G
n.464C>G
n.300C>G
n.376C>G
Xg.15845941G>TCA412459007AP1S2c.250C>A (p.His84Asn)
c.118C>A (p.His40Asn)
c.228C>A
c.239C>A
c.376C>A (p.His126Asn)
n.529C>A
n.464C>A
n.300C>A
n.376C>A
 gnomAD v4
Xg.15845942_15845953delCA2695200157AP1S2c.239_250del (p.Leu80_Ile83del)
c.107_118del (p.Leu36_Ile39del)
c.217_228del
c.228_239del
c.365_376del (p.Leu122_Ile125del)
n.518_529del
n.453_464del
n.289_300del
n.365_376del
 ClinVar
Xg.15845942A>CCA412459008AP1S2c.249T>G (p.Ile83Met)
c.117T>G (p.Ile39Met)
c.227T>G
c.238T>G
c.375T>G (p.Ile125Met)
n.528T>G
n.463T>G
n.299T>G
n.375T>G
Xg.15845942A>GCA515562724AP1S2c.249T>C (p.Ile83=)
c.117T>C (p.Ile39=)
c.227T>C
c.238T>C
c.375T>C (p.Ile125=)
n.528T>C
n.463T>C
n.299T>C
n.375T>C
Xg.15845942A>TCA515562726AP1S2c.249T>A (p.Ile83=)
c.117T>A (p.Ile39=)
c.227T>A
c.238T>A
c.375T>A (p.Ile125=)
n.528T>A
n.463T>A
n.299T>A
n.375T>A
Xg.15845943A=CA2417072546AP1S2c.248T= (p.Ile83=)
c.116T= (p.Ile39=)
c.226T=
c.237T=
c.374T= (p.Ile125=)
n.527T=
n.462T=
n.298T=
n.374T=
Xg.15845943A>CCA10356453AP1S2c.248T>G (p.Ile83Ser)
c.116T>G (p.Ile39Ser)
c.226T>G
c.237T>G
c.374T>G (p.Ile125Ser)
n.527T>G
n.462T>G
n.298T>G
n.374T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.15845943A>GCA412459009AP1S2c.248T>C (p.Ile83Thr)
c.116T>C (p.Ile39Thr)
c.226T>C
c.237T>C
c.374T>C (p.Ile125Thr)
n.527T>C
n.462T>C
n.298T>C
n.374T>C
Xg.15845943A>TCA412459010AP1S2c.248T>A (p.Ile83Asn)
c.116T>A (p.Ile39Asn)
c.226T>A
c.237T>A
c.374T>A (p.Ile125Asn)
n.527T>A
n.462T>A
n.298T>A
n.374T>A
Xg.15845946_15845948dupCA2819832546AP1S2c.246_248dup (p.Ile83_His84insIle)
c.114_116dup (p.Ile39_His40insIle)
c.224_226dup
c.235_237dup
c.372_374dup (p.Ile125_His126insIle)
n.525_527dup
n.460_462dup
n.296_298dup
n.372_374dup
Xg.15845944T>ACA412459011AP1S2c.247A>T (p.Ile83Phe)
c.115A>T (p.Ile39Phe)
c.225A>T
c.236A>T
c.373A>T (p.Ile125Phe)
n.526A>T
n.461A>T
n.297A>T
n.373A>T
Xg.15845944T>CCA412459013AP1S2c.247A>G (p.Ile83Val)
c.115A>G (p.Ile39Val)
c.225A>G
c.236A>G
c.373A>G (p.Ile125Val)
n.526A>G
n.461A>G
n.297A>G
n.373A>G
Xg.15845944T>GCA412459012AP1S2c.247A>C (p.Ile83Leu)
c.115A>C (p.Ile39Leu)
c.225A>C
c.236A>C
c.373A>C (p.Ile125Leu)
n.526A>C
n.461A>C
n.297A>C
n.373A>C
Xg.15845945T>ACA515562727AP1S2c.246A>T (p.Ile82=)
c.114A>T (p.Ile38=)
c.224A>T
c.235A>T
c.372A>T (p.Ile124=)
n.525A>T
n.460A>T
n.296A>T
n.372A>T
Xg.15845945T>CCA412459014AP1S2c.246A>G (p.Ile82Met)
c.114A>G (p.Ile38Met)
c.224A>G
c.235A>G
c.372A>G (p.Ile124Met)
n.525A>G
n.460A>G
n.296A>G
n.372A>G
Xg.15845945T>GCA515562728AP1S2c.246A>C (p.Ile82=)
c.114A>C (p.Ile38=)
c.224A>C
c.235A>C
c.372A>C (p.Ile124=)
n.525A>C
n.460A>C
n.296A>C
n.372A>C
Xg.15845946A>CCA412459015AP1S2c.245T>G (p.Ile82Arg)
c.113T>G (p.Ile38Arg)
c.223T>G
c.234T>G
c.371T>G (p.Ile124Arg)
n.524T>G
n.459T>G
n.295T>G
n.371T>G
Xg.15845946A>GCA412459016AP1S2c.245T>C (p.Ile82Thr)
c.113T>C (p.Ile38Thr)
c.223T>C
c.234T>C
c.371T>C (p.Ile124Thr)
n.524T>C
n.459T>C
n.295T>C
n.371T>C
Xg.15845946A>TCA412459017AP1S2c.245T>A (p.Ile82Lys)
c.113T>A (p.Ile38Lys)
c.223T>A
c.234T>A
c.371T>A (p.Ile124Lys)
n.524T>A
n.459T>A
n.295T>A
n.371T>A
Xg.15845947T>ACA412459018AP1S2c.244A>T (p.Ile82Leu)
c.112A>T (p.Ile38Leu)
c.222A>T
c.233A>T
c.370A>T (p.Ile124Leu)
n.523A>T
n.458A>T
n.294A>T
n.370A>T
Xg.15845947T>CCA412459019AP1S2c.244A>G (p.Ile82Val)
c.112A>G (p.Ile38Val)
c.222A>G
c.233A>G
c.370A>G (p.Ile124Val)
n.523A>G
n.458A>G
n.294A>G
n.370A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845947T>GCA412459020AP1S2c.244A>C (p.Ile82Leu)
c.112A>C (p.Ile38Leu)
c.222A>C
c.233A>C
c.370A>C (p.Ile124Leu)
n.523A>C
n.458A>C
n.294A>C
n.370A>C
Xg.15845947T=CA2417072547AP1S2c.244A= (p.Ile82=)
c.112A= (p.Ile38=)
c.222A=
c.233A=
c.370A= (p.Ile124=)
n.523A=
n.458A=
n.294A=
n.370A=
Xg.15845948T>ACA412459021AP1S2c.243A>T (p.Glu81Asp)
c.111A>T (p.Glu37Asp)
c.221A>T
c.232A>T
c.369A>T (p.Glu123Asp)
n.522A>T
n.457A>T
n.293A>T
n.369A>T
Xg.15845948T>CCA515562730AP1S2c.243A>G (p.Glu81=)
c.111A>G (p.Glu37=)
c.221A>G
c.232A>G
c.369A>G (p.Glu123=)
n.522A>G
n.457A>G
n.293A>G
n.369A>G
Xg.15845948T>GCA412459022AP1S2c.243A>C (p.Glu81Asp)
c.111A>C (p.Glu37Asp)
c.221A>C
c.232A>C
c.369A>C (p.Glu123Asp)
n.522A>C
n.457A>C
n.293A>C
n.369A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.15845948T=CA2417072548AP1S2c.243A= (p.Glu81=)
c.111A= (p.Glu37=)
c.221A=
c.232A=
c.369A= (p.Glu123=)
n.522A=
n.457A=
n.293A=
n.369A=
Xg.15845949T>ACA412459025AP1S2c.242A>T (p.Glu81Val)
c.110A>T (p.Glu37Val)
c.220A>T
c.231A>T
c.368A>T (p.Glu123Val)
n.521A>T
n.456A>T
n.292A>T
n.368A>T
Xg.15845949T>CCA412459024AP1S2c.242A>G (p.Glu81Gly)
c.110A>G (p.Glu37Gly)
c.220A>G
c.231A>G
c.368A>G (p.Glu123Gly)
n.521A>G
n.456A>G
n.292A>G
n.368A>G
Xg.15845949T>GCA412459023AP1S2c.242A>C (p.Glu81Ala)
c.110A>C (p.Glu37Ala)
c.220A>C
c.231A>C
c.368A>C (p.Glu123Ala)
n.521A>C
n.456A>C
n.292A>C
n.368A>C
Xg.15845950C>ACA412459026AP1S2c.241G>T (p.Glu81Ter)
c.109G>T (p.Glu37Ter)
c.219G>T
c.230G>T
c.367G>T (p.Glu123Ter)
n.520G>T
n.455G>T
n.291G>T
n.367G>T
Xg.15845950C>GCA412459027AP1S2c.241G>C (p.Glu81Gln)
c.109G>C (p.Glu37Gln)
c.219G>C
c.230G>C
c.367G>C (p.Glu123Gln)
n.520G>C
n.455G>C
n.291G>C
n.367G>C
Xg.15845950C>TCA412459028AP1S2c.241G>A (p.Glu81Lys)
c.109G>A (p.Glu37Lys)
c.219G>A
c.230G>A
c.367G>A (p.Glu123Lys)
n.520G>A
n.455G>A
n.291G>A
n.367G>A
Xg.15845951C>ACA515562731AP1S2c.240G>T (p.Leu80=)
c.108G>T (p.Leu36=)
c.218G>T
c.229G>T
c.366G>T (p.Leu122=)
n.519G>T
n.454G>T
n.290G>T
n.366G>T
Xg.15845951C=CA2417072549AP1S2c.240G= (p.Leu80=)
c.108G= (p.Leu36=)
c.218G=
c.229G=
c.366G= (p.Leu122=)
n.519G=
n.454G=
n.290G=
n.366G=
Xg.15845951C>GCA515562732AP1S2c.240G>C (p.Leu80=)
c.108G>C (p.Leu36=)
c.218G>C
c.229G>C
c.366G>C (p.Leu122=)
n.519G>C
n.454G>C
n.290G>C
n.366G>C
Xg.15845951C>TCA327137587AP1S2c.240G>A (p.Leu80=)
c.108G>A (p.Leu36=)
c.218G>A
c.229G>A
c.366G>A (p.Leu122=)
n.519G>A
n.454G>A
n.290G>A
n.366G>A
 ClinVar dbSNP gnomAD v4
Xg.15845952A>CCA412459029AP1S2c.239T>G (p.Leu80Arg)
c.107T>G (p.Leu36Arg)
c.217T>G
c.228T>G
c.365T>G (p.Leu122Arg)
n.518T>G
n.453T>G
n.289T>G
n.365T>G
Xg.15845952A>GCA412459030AP1S2c.239T>C (p.Leu80Pro)
c.107T>C (p.Leu36Pro)
c.217T>C
c.228T>C
c.365T>C (p.Leu122Pro)
n.518T>C
n.453T>C
n.289T>C
n.365T>C
Xg.15845952A>TCA412459031AP1S2c.239T>A (p.Leu80Gln)
c.107T>A (p.Leu36Gln)
c.217T>A
c.228T>A
c.365T>A (p.Leu122Gln)
n.518T>A
n.453T>A
n.289T>A
n.365T>A
Xg.15845953G>ACA515562735AP1S2c.238C>T (p.Leu80=)
c.106C>T (p.Leu36=)
c.216C>T
c.227C>T
c.364C>T (p.Leu122=)
n.517C>T
n.452C>T
n.288C>T
n.364C>T
 gnomAD v4
Xg.15845953G>CCA412459032AP1S2c.238C>G (p.Leu80Val)
c.106C>G (p.Leu36Val)
c.216C>G
c.227C>G
c.364C>G (p.Leu122Val)
n.517C>G
n.452C>G
n.288C>G
n.364C>G
Xg.15845953G>TCA412459033AP1S2c.238C>A (p.Leu80Met)
c.106C>A (p.Leu36Met)
c.216C>A
c.227C>A
c.364C>A (p.Leu122Met)
n.517C>A
n.452C>A
n.288C>A
n.364C>A
 gnomAD v4
Xg.15845954G>ACA515562737AP1S2c.237C>T (p.Thr79=)
c.105C>T (p.Thr35=)
c.215C>T
c.226C>T
c.363C>T (p.Thr121=)
n.516C>T
n.451C>T
n.287C>T
n.363C>T
Xg.15845954G>CCA515562738AP1S2c.237C>G (p.Thr79=)
c.105C>G (p.Thr35=)
c.215C>G
c.226C>G
c.363C>G (p.Thr121=)
n.516C>G
n.451C>G
n.287C>G
n.363C>G
Xg.15845954G=CA2417072550AP1S2c.237C= (p.Thr79=)
c.105C= (p.Thr35=)
c.215C=
c.226C=
c.363C= (p.Thr121=)
n.516C=
n.451C=
n.287C=
n.363C=
Xg.15845954G>TCA327137588AP1S2c.237C>A (p.Thr79=)
c.105C>A (p.Thr35=)
c.215C>A
c.226C>A
c.363C>A (p.Thr121=)
n.516C>A
n.451C>A
n.287C>A
n.363C>A
 dbSNP gnomAD v4
Xg.15845955G>ACA412459034AP1S2c.236C>T (p.Thr79Ile)
c.104C>T (p.Thr35Ile)
c.214C>T
c.225C>T
c.362C>T (p.Thr121Ile)
n.515C>T
n.450C>T
n.286C>T
n.362C>T
Xg.15845955G>CCA412459035AP1S2c.236C>G (p.Thr79Ser)
c.104C>G (p.Thr35Ser)
c.214C>G
c.225C>G
c.362C>G (p.Thr121Ser)
n.515C>G
n.450C>G
n.286C>G
n.362C>G
 gnomAD v4
Xg.15845955G>TCA412459036AP1S2c.236C>A (p.Thr79Asn)
c.104C>A (p.Thr35Asn)
c.214C>A
c.225C>A
c.362C>A (p.Thr121Asn)
n.515C>A
n.450C>A
n.286C>A
n.362C>A
Xg.15845956T>ACA412459039AP1S2c.235A>T (p.Thr79Ser)
c.103A>T (p.Thr35Ser)
c.213A>T
c.224A>T
c.361A>T (p.Thr121Ser)
n.514A>T
n.449A>T
n.285A>T
n.361A>T
Xg.15845956T>CCA412459038AP1S2c.235A>G (p.Thr79Ala)
c.103A>G (p.Thr35Ala)
c.213A>G
c.224A>G
c.361A>G (p.Thr121Ala)
n.514A>G
n.449A>G
n.285A>G
n.361A>G
 gnomAD v4
Xg.15845956T>GCA412459037AP1S2c.235A>C (p.Thr79Pro)
c.103A>C (p.Thr35Pro)
c.213A>C
c.224A>C
c.361A>C (p.Thr121Pro)
n.514A>C
n.449A>C
n.285A>C
n.361A>C
Xg.15845957A>CCA412459040AP1S2c.234T>G (p.Ile78Met)
c.102T>G (p.Ile34Met)
c.212T>G
c.223T>G
c.360T>G (p.Ile120Met)
n.513T>G
n.448T>G
n.284T>G
n.360T>G
Xg.15845957A>GCA515562742AP1S2c.234T>C (p.Ile78=)
c.102T>C (p.Ile34=)
c.212T>C
c.223T>C
c.360T>C (p.Ile120=)
n.513T>C
n.448T>C
n.284T>C
n.360T>C
Xg.15845957A>TCA515562740AP1S2c.234T>A (p.Ile78=)
c.102T>A (p.Ile34=)
c.212T>A
c.223T>A
c.360T>A (p.Ile120=)
n.513T>A
n.448T>A
n.284T>A
n.360T>A
Xg.15845958A>CCA412459041AP1S2c.233T>G (p.Ile78Ser)
c.101T>G (p.Ile34Ser)
c.211T>G
c.222T>G
c.359T>G (p.Ile120Ser)
n.512T>G
n.447T>G
n.283T>G
n.359T>G
Xg.15845958A>GCA412459042AP1S2c.233T>C (p.Ile78Thr)
c.101T>C (p.Ile34Thr)
c.211T>C
c.222T>C
c.359T>C (p.Ile120Thr)
n.512T>C
n.447T>C
n.283T>C
n.359T>C
Xg.15845958A>TCA412459043AP1S2c.233T>A (p.Ile78Asn)
c.101T>A (p.Ile34Asn)
c.211T>A
c.222T>A
c.359T>A (p.Ile120Asn)
n.512T>A
n.447T>A
n.283T>A
n.359T>A
Xg.15845959T>ACA412459044AP1S2c.232A>T (p.Ile78Phe)
c.100A>T (p.Ile34Phe)
c.210A>T
c.221A>T
c.358A>T (p.Ile120Phe)
n.511A>T
n.446A>T
n.282A>T
n.358A>T
Xg.15845959T>CCA412459045AP1S2c.232A>G (p.Ile78Val)
c.100A>G (p.Ile34Val)
c.210A>G
c.221A>G
c.358A>G (p.Ile120Val)
n.511A>G
n.446A>G
n.282A>G
n.358A>G
Xg.15845959T>GCA412459046AP1S2c.232A>C (p.Ile78Leu)
c.100A>C (p.Ile34Leu)
c.210A>C
c.221A>C
c.358A>C (p.Ile120Leu)
n.511A>C
n.446A>C
n.282A>C
n.358A>C
Xg.15845960T>ACA515562743AP1S2c.231A>T (p.Leu77=)
c.99A>T (p.Leu33=)
c.209A>T
c.220A>T
c.357A>T (p.Leu119=)
n.510A>T
n.445A>T
n.281A>T
n.357A>T
Xg.15845960T>CCA515562744AP1S2c.231A>G (p.Leu77=)
c.99A>G (p.Leu33=)
c.209A>G
c.220A>G
c.357A>G (p.Leu119=)
n.510A>G
n.445A>G
n.281A>G
n.357A>G
Xg.15845960T>GCA515562745AP1S2c.231A>C (p.Leu77=)
c.99A>C (p.Leu33=)
c.209A>C
c.220A>C
c.357A>C (p.Leu119=)
n.510A>C
n.445A>C
n.281A>C
n.357A>C
Xg.15845961A>CCA412459047AP1S2c.230T>G (p.Leu77Arg)
c.98T>G (p.Leu33Arg)
c.208T>G
c.219T>G
c.356T>G (p.Leu119Arg)
n.509T>G
n.444T>G
n.280T>G
n.356T>G
Xg.15845961A>GCA412459048AP1S2c.230T>C (p.Leu77Pro)
c.98T>C (p.Leu33Pro)
c.208T>C
c.219T>C
c.356T>C (p.Leu119Pro)
n.509T>C
n.444T>C
n.280T>C
n.356T>C
Xg.15845961A>TCA412459049AP1S2c.230T>A (p.Leu77Gln)
c.98T>A (p.Leu33Gln)
c.208T>A
c.219T>A
c.356T>A (p.Leu119Gln)
n.509T>A
n.444T>A
n.280T>A
n.356T>A
Xg.15845962G>ACA515562746AP1S2c.229C>T (p.Leu77=)
c.97C>T (p.Leu33=)
c.207C>T
c.218C>T
c.355C>T (p.Leu119=)
n.508C>T
n.443C>T
n.279C>T
n.355C>T
Xg.15845962G>CCA412459050AP1S2c.229C>G (p.Leu77Val)
c.97C>G (p.Leu33Val)
c.207C>G
c.218C>G
c.355C>G (p.Leu119Val)
n.508C>G
n.443C>G
n.279C>G
n.355C>G
Xg.15845962G>TCA412459051AP1S2c.229C>A (p.Leu77Ile)
c.97C>A (p.Leu33Ile)
c.207C>A
c.218C>A
c.355C>A (p.Leu119Ile)
n.508C>A
n.443C>A
n.279C>A
n.355C>A
 gnomAD v4
Xg.15845963T>ACA412459053AP1S2c.228A>T (p.Glu76Asp)
c.96A>T (p.Glu32Asp)
c.206A>T
c.217A>T
c.354A>T (p.Glu118Asp)
n.507A>T
n.442A>T
n.278A>T
n.354A>T
Xg.15845963T>CCA10356454AP1S2c.228A>G (p.Glu76=)
c.96A>G (p.Glu32=)
c.206A>G
c.217A>G
c.354A>G (p.Glu118=)
n.507A>G
n.442A>G
n.278A>G
n.354A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845963T>GCA412459052AP1S2c.228A>C (p.Glu76Asp)
c.96A>C (p.Glu32Asp)
c.206A>C
c.217A>C
c.354A>C (p.Glu118Asp)
n.507A>C
n.442A>C
n.278A>C
n.354A>C
Xg.15845963T=CA2417072551AP1S2c.228A= (p.Glu76=)
c.96A= (p.Glu32=)
c.206A=
c.217A=
c.354A= (p.Glu118=)
n.507A=
n.442A=
n.278A=
n.354A=
Xg.15845964T>ACA412459054AP1S2c.227A>T (p.Glu76Val)
c.95A>T (p.Glu32Val)
c.205A>T
c.216A>T
c.353A>T (p.Glu118Val)
n.506A>T
n.441A>T
n.277A>T
n.353A>T
Xg.15845964T>CCA412459056AP1S2c.227A>G (p.Glu76Gly)
c.95A>G (p.Glu32Gly)
c.205A>G
c.216A>G
c.353A>G (p.Glu118Gly)
n.506A>G
n.441A>G
n.277A>G
n.353A>G
Xg.15845964T>GCA412459055AP1S2c.227A>C (p.Glu76Ala)
c.95A>C (p.Glu32Ala)
c.205A>C
c.216A>C
c.353A>C (p.Glu118Ala)
n.506A>C
n.441A>C
n.277A>C
n.353A>C
Xg.15845965C>ACA121168AP1S2c.226G>T (p.Glu76Ter)
c.94G>T (p.Glu32Ter)
c.204G>T
c.215G>T
c.352G>T (p.Glu118Ter)
n.505G>T
n.440G>T
n.276G>T
n.352G>T
 ClinVar dbSNP
Xg.15845965C=CA2417072552AP1S2c.226G= (p.Glu76=)
c.94G= (p.Glu32=)
c.204G=
c.215G=
c.352G= (p.Glu118=)
n.505G=
n.440G=
n.276G=
n.352G=
Xg.15845965C>GCA412459057AP1S2c.226G>C (p.Glu76Gln)
c.94G>C (p.Glu32Gln)
c.204G>C
c.215G>C
c.352G>C (p.Glu118Gln)
n.505G>C
n.440G>C
n.276G>C
n.352G>C
Xg.15845965C>TCA412459058AP1S2c.226G>A (p.Glu76Lys)
c.94G>A (p.Glu32Lys)
c.204G>A
c.215G>A
c.352G>A (p.Glu118Lys)
n.505G>A
n.440G>A
n.276G>A
n.352G>A
Xg.15845966A>CCA412459059AP1S2c.225T>G (p.Asn75Lys)
c.93T>G (p.Asn31Lys)
c.203T>G
c.214T>G
c.351T>G (p.Asn117Lys)
n.504T>G
n.439T>G
n.275T>G
n.351T>G
Xg.15845966A>GCA515562750AP1S2c.225T>C (p.Asn75=)
c.93T>C (p.Asn31=)
c.203T>C
c.214T>C
c.351T>C (p.Asn117=)
n.504T>C
n.439T>C
n.275T>C
n.351T>C
Xg.15845966A>TCA412459060AP1S2c.225T>A (p.Asn75Lys)
c.93T>A (p.Asn31Lys)
c.203T>A
c.214T>A
c.351T>A (p.Asn117Lys)
n.504T>A
n.439T>A
n.275T>A
n.351T>A
Xg.15845967T>ACA412459061AP1S2c.224A>T (p.Asn75Ile)
c.92A>T (p.Asn31Ile)
c.202A>T
c.213A>T
c.350A>T (p.Asn117Ile)
n.503A>T
n.438A>T
n.274A>T
n.350A>T
Xg.15845967T>CCA412459062AP1S2c.224A>G (p.Asn75Ser)
c.92A>G (p.Asn31Ser)
c.202A>G
c.213A>G
c.350A>G (p.Asn117Ser)
n.503A>G
n.438A>G
n.274A>G
n.350A>G
Xg.15845967T>GCA412459063AP1S2c.224A>C (p.Asn75Thr)
c.92A>C (p.Asn31Thr)
c.202A>C
c.213A>C
c.350A>C (p.Asn117Thr)
n.503A>C
n.438A>C
n.274A>C
n.350A>C
Xg.15845968T>ACA412459064AP1S2c.223A>T (p.Asn75Tyr)
c.91A>T (p.Asn31Tyr)
c.201A>T
c.212A>T
c.349A>T (p.Asn117Tyr)
n.502A>T
n.437A>T
n.273A>T
n.349A>T
Xg.15845968T>CCA412459065AP1S2c.223A>G (p.Asn75Asp)
c.91A>G (p.Asn31Asp)
c.201A>G
c.212A>G
c.349A>G (p.Asn117Asp)
n.502A>G
n.437A>G
n.273A>G
n.349A>G
Xg.15845968T>GCA412459066AP1S2c.223A>C (p.Asn75His)
c.91A>C (p.Asn31His)
c.201A>C
c.212A>C
c.349A>C (p.Asn117His)
n.502A>C
n.437A>C
n.273A>C
n.349A>C
Xg.15845969G>ACA515562754AP1S2c.222C>T (p.Asp74=)
c.90C>T (p.Asp30=)
c.200C>T
c.211C>T
c.348C>T (p.Asp116=)
n.501C>T
n.436C>T
n.272C>T
n.348C>T
 ClinVar dbSNP gnomAD v4
Xg.15845969G>CCA412459068AP1S2c.222C>G (p.Asp74Glu)
c.90C>G (p.Asp30Glu)
c.200C>G
c.211C>G
c.348C>G (p.Asp116Glu)
n.501C>G
n.436C>G
n.272C>G
n.348C>G
Xg.15845969G=CA2417072553AP1S2c.222C= (p.Asp74=)
c.90C= (p.Asp30=)
c.200C=
c.211C=
c.348C= (p.Asp116=)
n.501C=
n.436C=
n.272C=
n.348C=
Xg.15845969G>TCA412459067AP1S2c.222C>A (p.Asp74Glu)
c.90C>A (p.Asp30Glu)
c.200C>A
c.211C>A
c.348C>A (p.Asp116Glu)
n.501C>A
n.436C>A
n.272C>A
n.348C>A
 gnomAD v4
Xg.15845970T>ACA412459069AP1S2c.221A>T (p.Asp74Val)
c.89A>T (p.Asp30Val)
c.199A>T
c.210A>T
c.347A>T (p.Asp116Val)
n.500A>T
n.435A>T
n.271A>T
n.347A>T
Xg.15845970T>CCA412459070AP1S2c.221A>G (p.Asp74Gly)
c.89A>G (p.Asp30Gly)
c.199A>G
c.210A>G
c.347A>G (p.Asp116Gly)
n.500A>G
n.435A>G
n.271A>G
n.347A>G
Xg.15845970T>GCA412459071AP1S2c.221A>C (p.Asp74Ala)
c.89A>C (p.Asp30Ala)
c.199A>C
c.210A>C
c.347A>C (p.Asp116Ala)
n.500A>C
n.435A>C
n.271A>C
n.347A>C
Xg.15845971C>ACA412459072AP1S2c.220G>T (p.Asp74Tyr)
c.88G>T (p.Asp30Tyr)
c.198G>T
c.209G>T
c.346G>T (p.Asp116Tyr)
n.499G>T
n.434G>T
n.270G>T
n.346G>T
Xg.15845971C>GCA412459073AP1S2c.220G>C (p.Asp74His)
c.88G>C (p.Asp30His)
c.198G>C
c.209G>C
c.346G>C (p.Asp116His)
n.499G>C
n.434G>C
n.270G>C
n.346G>C
Xg.15845971C>TCA412459074AP1S2c.220G>A (p.Asp74Asn)
c.88G>A (p.Asp30Asn)
c.198G>A
c.209G>A
c.346G>A (p.Asp116Asn)
n.499G>A
n.434G>A
n.270G>A
n.346G>A
Xg.15845972C>ACA412459075AP1S2c.219G>T (p.Gln73His)
c.87G>T (p.Gln29His)
c.197G>T
c.208G>T
c.345G>T (p.Gln115His)
n.498G>T
n.433G>T
n.269G>T
n.345G>T
Xg.15845972C>GCA412459076AP1S2c.219G>C (p.Gln73His)
c.87G>C (p.Gln29His)
c.197G>C
c.208G>C
c.345G>C (p.Gln115His)
n.498G>C
n.433G>C
n.269G>C
n.345G>C
Xg.15845972C>TCA515562756AP1S2c.219G>A (p.Gln73=)
c.87G>A (p.Gln29=)
c.197G>A
c.208G>A
c.345G>A (p.Gln115=)
n.498G>A
n.433G>A
n.269G>A
n.345G>A
Xg.15845973T>ACA412459077AP1S2c.218A>T (p.Gln73Leu)
c.86A>T (p.Gln29Leu)
c.196A>T
c.207A>T
c.344A>T (p.Gln115Leu)
n.497A>T
n.432A>T
n.268A>T
n.344A>T
Xg.15845973T>CCA412459078AP1S2c.218A>G (p.Gln73Arg)
c.86A>G (p.Gln29Arg)
c.196A>G
c.207A>G
c.344A>G (p.Gln115Arg)
n.497A>G
n.432A>G
n.268A>G
n.344A>G
Xg.15845973T>GCA412459079AP1S2c.218A>C (p.Gln73Pro)
c.86A>C (p.Gln29Pro)
c.196A>C
c.207A>C
c.344A>C (p.Gln115Pro)
n.497A>C
n.432A>C
n.268A>C
n.344A>C
Xg.15845974G>ACA412459081AP1S2c.217C>T (p.Gln73Ter)
c.85C>T (p.Gln29Ter)
c.195C>T
c.206C>T
c.343C>T (p.Gln115Ter)
n.496C>T
n.431C>T
n.267C>T
n.343C>T
Xg.15845974G>CCA412459082AP1S2c.217C>G (p.Gln73Glu)
c.85C>G (p.Gln29Glu)
c.195C>G
c.206C>G
c.343C>G (p.Gln115Glu)
n.496C>G
n.431C>G
n.267C>G
n.343C>G
 gnomAD v4
Xg.15845974G>TCA412459080AP1S2c.217C>A (p.Gln73Lys)
c.85C>A (p.Gln29Lys)
c.195C>A
c.206C>A
c.343C>A (p.Gln115Lys)
n.496C>A
n.431C>A
n.267C>A
n.343C>A
 gnomAD v4
Xg.15845975A>CCA412459083AP1S2c.216T>G (p.Asp72Glu)
c.84T>G (p.Asp28Glu)
c.194T>G
c.205T>G
c.342T>G (p.Asp114Glu)
n.495T>G
n.430T>G
n.266T>G
n.342T>G
Xg.15845975A>GCA515562758AP1S2c.216T>C (p.Asp72=)
c.84T>C (p.Asp28=)
c.194T>C
c.205T>C
c.342T>C (p.Asp114=)
n.495T>C
n.430T>C
n.266T>C
n.342T>C
Xg.15845975A>TCA412459084AP1S2c.216T>A (p.Asp72Glu)
c.84T>A (p.Asp28Glu)
c.194T>A
c.205T>A
c.342T>A (p.Asp114Glu)
n.495T>A
n.430T>A
n.266T>A
n.342T>A
Xg.15845976T>ACA412459085AP1S2c.215A>T (p.Asp72Val)
c.83A>T (p.Asp28Val)
c.193A>T
c.204A>T
c.341A>T (p.Asp114Val)
n.494A>T
n.429A>T
n.265A>T
n.341A>T
Xg.15845976T>CCA412459086AP1S2c.215A>G (p.Asp72Gly)
c.83A>G (p.Asp28Gly)
c.193A>G
c.204A>G
c.341A>G (p.Asp114Gly)
n.494A>G
n.429A>G
n.265A>G
n.341A>G
Xg.15845976T>GCA412459087AP1S2c.215A>C (p.Asp72Ala)
c.83A>C (p.Asp28Ala)
c.193A>C
c.204A>C
c.341A>C (p.Asp114Ala)
n.494A>C
n.429A>C
n.265A>C
n.341A>C
Xg.15845977C>ACA412459088AP1S2c.214G>T (p.Asp72Tyr)
c.82G>T (p.Asp28Tyr)
c.192G>T
c.203G>T
c.340G>T (p.Asp114Tyr)
n.493G>T
n.428G>T
n.264G>T
n.340G>T
Xg.15845977C>GCA412459089AP1S2c.214G>C (p.Asp72His)
c.82G>C (p.Asp28His)
c.192G>C
c.203G>C
c.340G>C (p.Asp114His)
n.493G>C
n.428G>C
n.264G>C
n.340G>C
Xg.15845977C>TCA412459090AP1S2c.214G>A (p.Asp72Asn)
c.82G>A (p.Asp28Asn)
c.192G>A
c.203G>A
c.340G>A (p.Asp114Asn)
n.493G>A
n.428G>A
n.264G>A
n.340G>A
 gnomAD v4
Xg.15845978C>ACA412459091AP1S2c.213G>T (p.Glu71Asp)
c.81G>T (p.Glu27Asp)
c.191G>T
c.202G>T
c.339G>T (p.Glu113Asp)
n.492G>T
n.427G>T
n.263G>T
n.339G>T
Xg.15845978C>GCA412459092AP1S2c.213G>C (p.Glu71Asp)
c.81G>C (p.Glu27Asp)
c.191G>C
c.202G>C
c.339G>C (p.Glu113Asp)
n.492G>C
n.427G>C
n.263G>C
n.339G>C
Xg.15845978C>TCA515562762AP1S2c.213G>A (p.Glu71=)
c.81G>A (p.Glu27=)
c.191G>A
c.202G>A
c.339G>A (p.Glu113=)
n.492G>A
n.427G>A
n.263G>A
n.339G>A
 gnomAD v4
Xg.15845979T>ACA412459093AP1S2c.212A>T (p.Glu71Val)
c.80A>T (p.Glu27Val)
c.190A>T
c.201A>T
c.338A>T (p.Glu113Val)
n.491A>T
n.426A>T
n.262A>T
n.338A>T
Xg.15845979T>CCA412459094AP1S2c.212A>G (p.Glu71Gly)
c.80A>G (p.Glu27Gly)
c.190A>G
c.201A>G
c.338A>G (p.Glu113Gly)
n.491A>G
n.426A>G
n.262A>G
n.338A>G
Xg.15845979T>GCA412459095AP1S2c.212A>C (p.Glu71Ala)
c.80A>C (p.Glu27Ala)
c.190A>C
c.201A>C
c.338A>C (p.Glu113Ala)
n.491A>C
n.426A>C
n.262A>C
n.338A>C
Xg.15845980C>ACA412459098AP1S2c.211G>T (p.Glu71Ter)
c.79G>T (p.Glu27Ter)
c.189G>T
c.200G>T
c.337G>T (p.Glu113Ter)
n.490G>T
n.425G>T
n.261G>T
n.337G>T
Xg.15845980C>GCA412459097AP1S2c.211G>C (p.Glu71Gln)
c.79G>C (p.Glu27Gln)
c.189G>C
c.200G>C
c.337G>C (p.Glu113Gln)
n.490G>C
n.425G>C
n.261G>C
n.337G>C
Xg.15845980C>TCA412459096AP1S2c.211G>A (p.Glu71Lys)
c.79G>A (p.Glu27Lys)
c.189G>A
c.200G>A
c.337G>A (p.Glu113Lys)
n.490G>A
n.425G>A
n.261G>A
n.337G>A
Xg.15845981A>CCA412459099AP1S2c.210T>G (p.Ile70Met)
c.78T>G (p.Ile26Met)
c.188T>G
c.199T>G
c.336T>G (p.Ile112Met)
n.489T>G
n.424T>G
n.260T>G
n.336T>G
Xg.15845981A>GCA515562765AP1S2c.210T>C (p.Ile70=)
c.78T>C (p.Ile26=)
c.188T>C
c.199T>C
c.336T>C (p.Ile112=)
n.489T>C
n.424T>C
n.260T>C
n.336T>C
Xg.15845981A>TCA515562767AP1S2c.210T>A (p.Ile70=)
c.78T>A (p.Ile26=)
c.188T>A
c.199T>A
c.336T>A (p.Ile112=)
n.489T>A
n.424T>A
n.260T>A
n.336T>A
Xg.15845982A>CCA412459100AP1S2c.209T>G (p.Ile70Ser)
c.77T>G (p.Ile26Ser)
c.187T>G
c.198T>G
c.335T>G (p.Ile112Ser)
n.488T>G
n.423T>G
n.259T>G
n.335T>G
Xg.15845982A>GCA412459101AP1S2c.209T>C (p.Ile70Thr)
c.77T>C (p.Ile26Thr)
c.187T>C
c.198T>C
c.335T>C (p.Ile112Thr)
n.488T>C
n.423T>C
n.259T>C
n.335T>C
 gnomAD v4
Xg.15845982A>TCA412459102AP1S2c.209T>A (p.Ile70Asn)
c.77T>A (p.Ile26Asn)
c.187T>A
c.198T>A
c.335T>A (p.Ile112Asn)
n.488T>A
n.423T>A
n.259T>A
n.335T>A
Xg.15845983T>ACA412459103AP1S2c.208A>T (p.Ile70Phe)
c.76A>T (p.Ile26Phe)
c.186A>T
c.197A>T
c.334A>T (p.Ile112Phe)
n.487A>T
n.422A>T
n.258A>T
n.334A>T
Xg.15845983T>CCA412459104AP1S2c.208A>G (p.Ile70Val)
c.76A>G (p.Ile26Val)
c.186A>G
c.197A>G
c.334A>G (p.Ile112Val)
n.487A>G
n.422A>G
n.258A>G
n.334A>G
 gnomAD v4
Xg.15845983T>GCA412459105AP1S2c.208A>C (p.Ile70Leu)
c.76A>C (p.Ile26Leu)
c.186A>C
c.197A>C
c.334A>C (p.Ile112Leu)
n.487A>C
n.422A>C
n.258A>C
n.334A>C
Xg.15845984A>CCA515562768AP1S2c.207T>G (p.Ala69=)
c.75T>G (p.Ala25=)
c.185T>G
c.196T>G
c.333T>G (p.Ala111=)
n.486T>G
n.421T>G
n.257T>G
n.333T>G
Xg.15845984A>GCA515562769AP1S2c.207T>C (p.Ala69=)
c.75T>C (p.Ala25=)
c.185T>C
c.196T>C
c.333T>C (p.Ala111=)
n.486T>C
n.421T>C
n.257T>C
n.333T>C
 gnomAD v4
Xg.15845984A>TCA515562770AP1S2c.207T>A (p.Ala69=)
c.75T>A (p.Ala25=)
c.185T>A
c.196T>A
c.333T>A (p.Ala111=)
n.486T>A
n.421T>A
n.257T>A
n.333T>A
Xg.15845985G>ACA412459106AP1S2c.206C>T (p.Ala69Val)
c.74C>T (p.Ala25Val)
c.184C>T
c.195C>T
c.332C>T (p.Ala111Val)
n.485C>T
n.420C>T
n.256C>T
n.332C>T
 COSMIC COSMIC COSMIC COSMIC
Xg.15845985G>CCA412459107AP1S2c.206C>G (p.Ala69Gly)
c.74C>G (p.Ala25Gly)
c.184C>G
c.195C>G
c.332C>G (p.Ala111Gly)
n.485C>G
n.420C>G
n.256C>G
n.332C>G
 dbSNP
Xg.15845985G=CA2417072554AP1S2c.206C= (p.Ala69=)
c.74C= (p.Ala25=)
c.184C=
c.195C=
c.332C= (p.Ala111=)
n.485C=
n.420C=
n.256C=
n.332C=
Xg.15845985G>TCA412459108AP1S2c.206C>A (p.Ala69Asp)
c.74C>A (p.Ala25Asp)
c.184C>A
c.195C>A
c.332C>A (p.Ala111Asp)
n.485C>A
n.420C>A
n.256C>A
n.332C>A
 gnomAD v4
Xg.15845986C>ACA412459109AP1S2c.205G>T (p.Ala69Ser)
c.73G>T (p.Ala25Ser)
c.183G>T
c.194G>T
c.331G>T (p.Ala111Ser)
n.484G>T
n.419G>T
n.255G>T
n.331G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.15845986C=CA2417072555AP1S2c.205G= (p.Ala69=)
c.73G= (p.Ala25=)
c.183G=
c.194G=
c.331G= (p.Ala111=)
n.484G=
n.419G=
n.255G=
n.331G=
Xg.15845986C>GCA412459110AP1S2c.205G>C (p.Ala69Pro)
c.73G>C (p.Ala25Pro)
c.183G>C
c.194G>C
c.331G>C (p.Ala111Pro)
n.484G>C
n.419G>C
n.255G>C
n.331G>C
Xg.15845986C>TCA412459111AP1S2c.205G>A (p.Ala69Thr)
c.73G>A (p.Ala25Thr)
c.183G>A
c.194G>A
c.331G>A (p.Ala111Thr)
n.484G>A
n.419G>A
n.255G>A
n.331G>A
Xg.15845987A>CCA412459112AP1S2c.204T>G (p.Cys68Trp)
c.72T>G (p.Cys24Trp)
c.182T>G
c.193T>G
c.330T>G (p.Cys110Trp)
n.483T>G
n.418T>G
n.254T>G
n.330T>G
Xg.15845987A>GCA515562773AP1S2c.204T>C (p.Cys68=)
c.72T>C (p.Cys24=)
c.182T>C
c.193T>C
c.330T>C (p.Cys110=)
n.483T>C
n.418T>C
n.254T>C
n.330T>C
Xg.15845987A>TCA412459113AP1S2c.204T>A (p.Cys68Ter)
c.72T>A (p.Cys24Ter)
c.182T>A
c.193T>A
c.330T>A (p.Cys110Ter)
n.483T>A
n.418T>A
n.254T>A
n.330T>A
Xg.15845988C>ACA412459114AP1S2c.203G>T (p.Cys68Phe)
c.71G>T (p.Cys24Phe)
c.181G>T
c.192G>T
c.329G>T (p.Cys110Phe)
n.482G>T
n.417G>T
n.253G>T
n.329G>T
Xg.15845988C>GCA412459116AP1S2c.203G>C (p.Cys68Ser)
c.71G>C (p.Cys24Ser)
c.181G>C
c.192G>C
c.329G>C (p.Cys110Ser)
n.482G>C
n.417G>C
n.253G>C
n.329G>C
Xg.15845988C>TCA412459115AP1S2c.203G>A (p.Cys68Tyr)
c.71G>A (p.Cys24Tyr)
c.181G>A
c.192G>A
c.329G>A (p.Cys110Tyr)
n.482G>A
n.417G>A
n.253G>A
n.329G>A
 gnomAD v4
Xg.15845989A>CCA412459117AP1S2c.202T>G (p.Cys68Gly)
c.70T>G (p.Cys24Gly)
c.180T>G
c.191T>G
c.328T>G (p.Cys110Gly)
n.481T>G
n.416T>G
n.252T>G
n.328T>G
Xg.15845989A>GCA412459119AP1S2c.202T>C (p.Cys68Arg)
c.70T>C (p.Cys24Arg)
c.180T>C
c.191T>C
c.328T>C (p.Cys110Arg)
n.481T>C
n.416T>C
n.252T>C
n.328T>C
Xg.15845989A>TCA412459118AP1S2c.202T>A (p.Cys68Ser)
c.70T>A (p.Cys24Ser)
c.180T>A
c.191T>A
c.328T>A (p.Cys110Ser)
n.481T>A
n.416T>A
n.252T>A
n.328T>A
Xg.15845990G>ACA515562775AP1S2c.201C>T (p.Cys67=)
c.69C>T (p.Cys23=)
c.179C>T
c.190C>T
c.327C>T (p.Cys109=)
n.480C>T
n.415C>T
n.251C>T
n.327C>T
Xg.15845990G>CCA412459120AP1S2c.201C>G (p.Cys67Trp)
c.69C>G (p.Cys23Trp)
c.179C>G
c.190C>G
c.327C>G (p.Cys109Trp)
n.480C>G
n.415C>G
n.251C>G
n.327C>G
Xg.15845990G>TCA412459121AP1S2c.201C>A (p.Cys67Ter)
c.69C>A (p.Cys23Ter)
c.179C>A
c.190C>A
c.327C>A (p.Cys109Ter)
n.480C>A
n.415C>A
n.251C>A
n.327C>A
 gnomAD v4
Xg.15845991C>ACA412459122AP1S2c.200G>T (p.Cys67Phe)
c.68G>T (p.Cys23Phe)
c.178G>T
c.189G>T
c.326G>T (p.Cys109Phe)
n.479G>T
n.414G>T
n.250G>T
n.326G>T
Xg.15845991C>GCA412459123AP1S2c.200G>C (p.Cys67Ser)
c.68G>C (p.Cys23Ser)
c.178G>C
c.189G>C
c.326G>C (p.Cys109Ser)
n.479G>C
n.414G>C
n.250G>C
n.326G>C
Xg.15845991C>TCA412459124AP1S2c.200G>A (p.Cys67Tyr)
c.68G>A (p.Cys23Tyr)
c.178G>A
c.189G>A
c.326G>A (p.Cys109Tyr)
n.479G>A
n.414G>A
n.250G>A
n.326G>A
Xg.15845992A>CCA412459125AP1S2c.199T>G (p.Cys67Gly)
c.67T>G (p.Cys23Gly)
c.177T>G
c.188T>G
c.325T>G (p.Cys109Gly)
n.478T>G
n.413T>G
n.249T>G
n.325T>G
Xg.15845992A>GCA412459126AP1S2c.199T>C (p.Cys67Arg)
c.67T>C (p.Cys23Arg)
c.177T>C
c.188T>C
c.325T>C (p.Cys109Arg)
n.478T>C
n.413T>C
n.249T>C
n.325T>C
Xg.15845992A>TCA412459127AP1S2c.199T>A (p.Cys67Ser)
c.67T>A (p.Cys23Ser)
c.177T>A
c.188T>A
c.325T>A (p.Cys109Ser)
n.478T>A
n.413T>A
n.249T>A
n.325T>A
Xg.15845993A=CA2417072556AP1S2c.198T= (p.Phe66=)
c.66T= (p.Phe22=)
c.176T=
c.187T=
c.324T= (p.Phe108=)
n.477T=
n.412T=
n.248T=
n.324T=
Xg.15845993A>CCA412459128AP1S2c.198T>G (p.Phe66Leu)
c.66T>G (p.Phe22Leu)
c.176T>G
c.187T>G
c.324T>G (p.Phe108Leu)
n.477T>G
n.412T>G
n.248T>G
n.324T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.15845993A>GCA515562777AP1S2c.198T>C (p.Phe66=)
c.66T>C (p.Phe22=)
c.176T>C
c.187T>C
c.324T>C (p.Phe108=)
n.477T>C
n.412T>C
n.248T>C
n.324T>C
Xg.15845993A>TCA412459129AP1S2c.198T>A (p.Phe66Leu)
c.66T>A (p.Phe22Leu)
c.176T>A
c.187T>A
c.324T>A (p.Phe108Leu)
n.477T>A
n.412T>A
n.248T>A
n.324T>A
Xg.15845994A>CCA412459132AP1S2c.197T>G (p.Phe66Cys)
c.65T>G (p.Phe22Cys)
c.175T>G
c.186T>G
c.323T>G (p.Phe108Cys)
n.476T>G
n.411T>G
n.247T>G
n.323T>G
Xg.15845994A>GCA412459131AP1S2c.197T>C (p.Phe66Ser)
c.65T>C (p.Phe22Ser)
c.175T>C
c.186T>C
c.323T>C (p.Phe108Ser)
n.476T>C
n.411T>C
n.247T>C
n.323T>C
Xg.15845994A>TCA412459130AP1S2c.197T>A (p.Phe66Tyr)
c.65T>A (p.Phe22Tyr)
c.175T>A
c.186T>A
c.323T>A (p.Phe108Tyr)
n.476T>A
n.411T>A
n.247T>A
n.323T>A
Xg.15845995A>CCA412459133AP1S2c.196T>G (p.Phe66Val)
c.64T>G (p.Phe22Val)
c.174T>G
c.185T>G
c.322T>G (p.Phe108Val)
n.475T>G
n.410T>G
n.246T>G
n.322T>G
Xg.15845995A>GCA412459134AP1S2c.196T>C (p.Phe66Leu)
c.64T>C (p.Phe22Leu)
c.174T>C
c.185T>C
c.322T>C (p.Phe108Leu)
n.475T>C
n.410T>C
n.246T>C
n.322T>C
Xg.15845995A>TCA412459135AP1S2c.196T>A (p.Phe66Ile)
c.64T>A (p.Phe22Ile)
c.174T>A
c.185T>A
c.322T>A (p.Phe108Ile)
n.475T>A
n.410T>A
n.246T>A
n.322T>A
Xg.15845996A>CCA412459136AP1S2c.195T>G (p.Tyr65Ter)
c.63T>G (p.Tyr21Ter)
c.173T>G
c.184T>G
c.321T>G (p.Tyr107Ter)
n.474T>G
n.409T>G
n.245T>G
n.321T>G
Xg.15845996A>GCA515562779AP1S2c.195T>C (p.Tyr65=)
c.63T>C (p.Tyr21=)
c.173T>C
c.184T>C
c.321T>C (p.Tyr107=)
n.474T>C
n.409T>C
n.245T>C
n.321T>C
Xg.15845996A>TCA412459137AP1S2c.195T>A (p.Tyr65Ter)
c.63T>A (p.Tyr21Ter)
c.173T>A
c.184T>A
c.321T>A (p.Tyr107Ter)
n.474T>A
n.409T>A
n.245T>A
n.321T>A
Xg.15845997T>ACA412459138AP1S2c.194A>T (p.Tyr65Phe)
c.62A>T (p.Tyr21Phe)
c.172A>T
c.183A>T
c.320A>T (p.Tyr107Phe)
n.473A>T
n.408A>T
n.244A>T
n.320A>T
Xg.15845997T>CCA412459139AP1S2c.194A>G (p.Tyr65Cys)
c.62A>G (p.Tyr21Cys)
c.172A>G
c.183A>G
c.320A>G (p.Tyr107Cys)
n.473A>G
n.408A>G
n.244A>G
n.320A>G
Xg.15845997T>GCA412459140AP1S2c.194A>C (p.Tyr65Ser)
c.62A>C (p.Tyr21Ser)
c.172A>C
c.183A>C
c.320A>C (p.Tyr107Ser)
n.473A>C
n.408A>C
n.244A>C
n.320A>C
Xg.15845998A>CCA412459141AP1S2c.193T>G (p.Tyr65Asp)
c.61T>G (p.Tyr21Asp)
c.171T>G
c.182T>G
c.319T>G (p.Tyr107Asp)
n.472T>G
n.407T>G
n.243T>G
n.319T>G
Xg.15845998A>GCA412459142AP1S2c.193T>C (p.Tyr65His)
c.61T>C (p.Tyr21His)
c.171T>C
c.182T>C
c.319T>C (p.Tyr107His)
n.472T>C
n.407T>C
n.243T>C
n.319T>C
 gnomAD v4
Xg.15845998A>TCA412459143AP1S2c.193T>A (p.Tyr65Asn)
c.61T>A (p.Tyr21Asn)
c.171T>A
c.182T>A
c.319T>A (p.Tyr107Asn)
n.472T>A
n.407T>A
n.243T>A
n.319T>A
Xg.15845999C>ACA515562780AP1S2c.192G>T (p.Leu64=)
c.60G>T (p.Leu20=)
c.170G>T
c.181G>T
c.318G>T (p.Leu106=)
n.471G>T
n.406G>T
n.242G>T
n.318G>T
Xg.15845999C>GCA515562782AP1S2c.192G>C (p.Leu64=)
c.60G>C (p.Leu20=)
c.170G>C
c.181G>C
c.318G>C (p.Leu106=)
n.471G>C
n.406G>C
n.242G>C
n.318G>C
Xg.15845999C>TCA515562783AP1S2c.192G>A (p.Leu64=)
c.60G>A (p.Leu20=)
c.170G>A
c.181G>A
c.318G>A (p.Leu106=)
n.471G>A
n.406G>A
n.242G>A
n.318G>A
 gnomAD v4
Xg.15846000A>CCA412459146AP1S2c.191T>G (p.Leu64Arg)
c.59T>G (p.Leu20Arg)
c.169T>G
c.180T>G
c.317T>G (p.Leu106Arg)
n.470T>G
n.405T>G
n.241T>G
n.317T>G
Xg.15846000A>GCA412459145AP1S2c.191T>C (p.Leu64Pro)
c.59T>C (p.Leu20Pro)
c.169T>C
c.180T>C
c.317T>C (p.Leu106Pro)
n.470T>C
n.405T>C
n.241T>C
n.317T>C
 gnomAD v4
Xg.15846000A>TCA412459144AP1S2c.191T>A (p.Leu64Gln)
c.59T>A (p.Leu20Gln)
c.169T>A
c.180T>A
c.317T>A (p.Leu106Gln)
n.470T>A
n.405T>A
n.241T>A
n.317T>A
Xg.15846001G>ACA515562784AP1S2c.190C>T (p.Leu64=)
c.58C>T (p.Leu20=)
c.168C>T
c.179C>T
c.316C>T (p.Leu106=)
n.469C>T
n.404C>T
n.240C>T
n.316C>T
Xg.15846001G>CCA412459147AP1S2c.190C>G (p.Leu64Val)
c.58C>G (p.Leu20Val)
c.168C>G
c.179C>G
c.316C>G (p.Leu106Val)
n.469C>G
n.404C>G
n.240C>G
n.316C>G
Xg.15846001G>TCA412459148AP1S2c.190C>A (p.Leu64Met)
c.58C>A (p.Leu20Met)
c.168C>A
c.179C>A
c.316C>A (p.Leu106Met)
n.469C>A
n.404C>A
n.240C>A
n.316C>A
 gnomAD v4

Number of alleles fetched