Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.21709955C>ACA395062247OTOAc.1172C>A (p.Ser391Ter)
c.1048C>A (p.Arg350=)
c.1214C>A (p.Ser405Ter)
c.935C>A (p.Ser312Ter)
c.200C>A (p.Ser67Ter)
n.392C>A
c.41C>A (p.Ser14Ter)
n.267C>A
16g.21709955C=CA2212563427OTOAc.1172C= (p.Ser391=)
c.1048C= (p.Arg350=)
c.1214C= (p.Ser405=)
c.935C= (p.Ser312=)
c.200C= (p.Ser67=)
n.392C=
c.41C= (p.Ser14=)
n.267C=
16g.21709955C>GCA279403723OTOAc.1172C>G (p.Ser391Trp)
c.1048C>G (p.Arg350Gly)
c.1214C>G (p.Ser405Trp)
c.935C>G (p.Ser312Trp)
c.200C>G (p.Ser67Trp)
n.392C>G
c.41C>G (p.Ser14Trp)
n.267C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.21709955C>TCA183465OTOAc.1172C>T (p.Ser391Leu)
c.1048C>T (p.Arg350Trp)
c.1214C>T (p.Ser405Leu)
c.935C>T (p.Ser312Leu)
c.200C>T (p.Ser67Leu)
n.392C>T
c.41C>T (p.Ser14Leu)
n.267C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.21709956G>ACA7952563OTOAc.1173G>A (p.Ser391=)
c.1049G>A (p.Arg350Gln)
c.1215G>A (p.Ser405=)
c.936G>A (p.Ser312=)
c.201G>A (p.Ser67=)
n.393G>A
c.42G>A (p.Ser14=)
n.268G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.21709956G>CCA494117525OTOAc.1173G>C (p.Ser391=)
c.1049G>C (p.Arg350Pro)
c.1215G>C (p.Ser405=)
c.936G>C (p.Ser312=)
c.201G>C (p.Ser67=)
n.393G>C
c.42G>C (p.Ser14=)
n.268G>C
16g.21709956G=CA2212563436OTOAc.1173G= (p.Ser391=)
c.1049G= (p.Arg350=)
c.1215G= (p.Ser405=)
c.936G= (p.Ser312=)
c.201G= (p.Ser67=)
n.393G=
c.42G= (p.Ser14=)
n.268G=
16g.21709956G>TCA494117526OTOAc.1173G>T (p.Ser391=)
c.1049G>T (p.Arg350Leu)
c.1215G>T (p.Ser405=)
c.936G>T (p.Ser312=)
c.201G>T (p.Ser67=)
n.393G>T
c.42G>T (p.Ser14=)
n.268G>T
16g.21709957G>ACA395062253OTOAc.1174G>A (p.Asp392Asn)
c.1050G>A (p.Arg350=)
c.1216G>A (p.Asp406Asn)
c.937G>A (p.Asp313Asn)
c.202G>A (p.Asp68Asn)
n.394G>A
c.43G>A (p.Asp15Asn)
n.269G>A
 gnomAD v4
16g.21709957G>CCA395062255OTOAc.1174G>C (p.Asp392His)
c.1050G>C (p.Arg350=)
c.1216G>C (p.Asp406His)
c.937G>C (p.Asp313His)
c.202G>C (p.Asp68His)
n.394G>C
c.43G>C (p.Asp15His)
n.269G>C
 gnomAD v4
16g.21709957G>TCA395062257OTOAc.1174G>T (p.Asp392Tyr)
c.1050G>T (p.Arg350=)
c.1216G>T (p.Asp406Tyr)
c.937G>T (p.Asp313Tyr)
c.202G>T (p.Asp68Tyr)
n.394G>T
c.43G>T (p.Asp15Tyr)
n.269G>T
16g.21709958A>CCA395062260OTOAc.1175A>C (p.Asp392Ala)
c.1051A>C (p.Met351Leu)
c.1217A>C (p.Asp406Ala)
c.938A>C (p.Asp313Ala)
c.203A>C (p.Asp68Ala)
n.395A>C
c.44A>C (p.Asp15Ala)
n.270A>C
16g.21709958A>GCA395062261OTOAc.1175A>G (p.Asp392Gly)
c.1051A>G (p.Met351Val)
c.1217A>G (p.Asp406Gly)
c.938A>G (p.Asp313Gly)
c.203A>G (p.Asp68Gly)
n.395A>G
c.44A>G (p.Asp15Gly)
n.270A>G
16g.21709958A>TCA395062264OTOAc.1175A>T (p.Asp392Val)
c.1051A>T (p.Met351Leu)
c.1217A>T (p.Asp406Val)
c.938A>T (p.Asp313Val)
c.203A>T (p.Asp68Val)
n.395A>T
c.44A>T (p.Asp15Val)
n.270A>T
16g.21709959T>ACA395062266OTOAc.1176T>A (p.Asp392Glu)
c.1052T>A (p.Met351Lys)
c.1218T>A (p.Asp406Glu)
c.939T>A (p.Asp313Glu)
c.204T>A (p.Asp68Glu)
n.396T>A
c.45T>A (p.Asp15Glu)
n.271T>A
 gnomAD v4
16g.21709959T>CCA494117527OTOAc.1176T>C (p.Asp392=)
c.1052T>C (p.Met351Thr)
c.1218T>C (p.Asp406=)
c.939T>C (p.Asp313=)
c.204T>C (p.Asp68=)
n.396T>C
c.45T>C (p.Asp15=)
n.271T>C
16g.21709959T>GCA395062268OTOAc.1176T>G (p.Asp392Glu)
c.1052T>G (p.Met351Arg)
c.1218T>G (p.Asp406Glu)
c.939T>G (p.Asp313Glu)
c.204T>G (p.Asp68Glu)
n.396T>G
c.45T>G (p.Asp15Glu)
n.271T>G
 dbSNP
16g.21709959T=CA2212563445OTOAc.1176T= (p.Asp392=)
c.1052T= (p.Met351=)
c.1218T= (p.Asp406=)
c.939T= (p.Asp313=)
c.204T= (p.Asp68=)
n.396T=
c.45T= (p.Asp15=)
n.271T=
16g.21709960G>ACA395062271OTOAc.1177G>A (p.Ala393Thr)
c.1053G>A (p.Met351Ile)
c.1219G>A (p.Ala407Thr)
c.940G>A (p.Ala314Thr)
c.205G>A (p.Ala69Thr)
n.397G>A
c.46G>A (p.Ala16Thr)
n.272G>A
 gnomAD v4
16g.21709960G>CCA395062272OTOAc.1177G>C (p.Ala393Pro)
c.1053G>C (p.Met351Ile)
c.1219G>C (p.Ala407Pro)
c.940G>C (p.Ala314Pro)
c.205G>C (p.Ala69Pro)
n.397G>C
c.46G>C (p.Ala16Pro)
n.272G>C
16g.21709960G>TCA395062275OTOAc.1177G>T (p.Ala393Ser)
c.1053G>T (p.Met351Ile)
c.1219G>T (p.Ala407Ser)
c.940G>T (p.Ala314Ser)
c.205G>T (p.Ala69Ser)
n.397G>T
c.46G>T (p.Ala16Ser)
n.272G>T
16g.21709961C>ACA395062277OTOAc.1178C>A (p.Ala393Glu)
c.1054C>A (p.Gln352Lys)
c.1220C>A (p.Ala407Glu)
c.941C>A (p.Ala314Glu)
c.206C>A (p.Ala69Glu)
n.398C>A
c.47C>A (p.Ala16Glu)
n.273C>A
16g.21709961C>GCA395062279OTOAc.1178C>G (p.Ala393Gly)
c.1054C>G (p.Gln352Glu)
c.1220C>G (p.Ala407Gly)
c.941C>G (p.Ala314Gly)
c.206C>G (p.Ala69Gly)
n.398C>G
c.47C>G (p.Ala16Gly)
n.273C>G
16g.21709961C>TCA395062281OTOAc.1178C>T (p.Ala393Val)
c.1054C>T (p.Gln352Ter)
c.1220C>T (p.Ala407Val)
c.941C>T (p.Ala314Val)
c.206C>T (p.Ala69Val)
n.398C>T
c.47C>T (p.Ala16Val)
n.273C>T
16g.21709962A>CCA494117528OTOAc.1179A>C (p.Ala393=)
c.1055A>C (p.Gln352Pro)
c.1221A>C (p.Ala407=)
c.942A>C (p.Ala314=)
c.207A>C (p.Ala69=)
n.399A>C
c.48A>C (p.Ala16=)
n.274A>C
16g.21709962A>GCA494117530OTOAc.1179A>G (p.Ala393=)
c.1055A>G (p.Gln352Arg)
c.1221A>G (p.Ala407=)
c.942A>G (p.Ala314=)
c.207A>G (p.Ala69=)
n.399A>G
c.48A>G (p.Ala16=)
n.274A>G
16g.21709962A>TCA494117529OTOAc.1179A>T (p.Ala393=)
c.1055A>T (p.Gln352Leu)
c.1221A>T (p.Ala407=)
c.942A>T (p.Ala314=)
c.207A>T (p.Ala69=)
n.399A>T
c.48A>T (p.Ala16=)
n.274A>T
16g.21709963G>ACA395062284OTOAc.1180G>A (p.Val394Ile)
c.1056G>A (p.Gln352=)
c.1222G>A (p.Val408Ile)
c.943G>A (p.Val315Ile)
c.208G>A (p.Val70Ile)
n.400G>A
c.49G>A (p.Val17Ile)
n.275G>A
16g.21709963G>CCA395062285OTOAc.1180G>C (p.Val394Leu)
c.1056G>C (p.Gln352His)
c.1222G>C (p.Val408Leu)
c.943G>C (p.Val315Leu)
c.208G>C (p.Val70Leu)
n.400G>C
c.49G>C (p.Val17Leu)
n.275G>C
16g.21709963G>TCA395062286OTOAc.1180G>T (p.Val394Phe)
c.1056G>T (p.Gln352His)
c.1222G>T (p.Val408Phe)
c.943G>T (p.Val315Phe)
c.208G>T (p.Val70Phe)
n.400G>T
c.49G>T (p.Val17Phe)
n.275G>T
16g.21709964T>ACA395062288OTOAc.1181T>A (p.Val394Asp)
c.1057T>A (p.Leu353Met)
c.1223T>A (p.Val408Asp)
c.944T>A (p.Val315Asp)
c.209T>A (p.Val70Asp)
n.401T>A
c.50T>A (p.Val17Asp)
n.276T>A
16g.21709964T>CCA395062290OTOAc.1181T>C (p.Val394Ala)
c.1057T>C (p.Leu353=)
c.1223T>C (p.Val408Ala)
c.944T>C (p.Val315Ala)
c.209T>C (p.Val70Ala)
n.401T>C
c.50T>C (p.Val17Ala)
n.276T>C
16g.21709964T>GCA395062292OTOAc.1181T>G (p.Val394Gly)
c.1057T>G (p.Leu353Val)
c.1223T>G (p.Val408Gly)
c.944T>G (p.Val315Gly)
c.209T>G (p.Val70Gly)
n.401T>G
c.50T>G (p.Val17Gly)
n.276T>G
16g.21709965T>ACA494117531OTOAc.1182T>A (p.Val394=)
c.1058T>A (p.Leu353Ter)
c.1224T>A (p.Val408=)
c.945T>A (p.Val315=)
c.210T>A (p.Val70=)
n.402T>A
c.51T>A (p.Val17=)
n.277T>A
16g.21709965T>CCA494117532OTOAc.1182T>C (p.Val394=)
c.1058T>C (p.Leu353Ser)
c.1224T>C (p.Val408=)
c.945T>C (p.Val315=)
c.210T>C (p.Val70=)
n.402T>C
c.51T>C (p.Val17=)
n.277T>C
 gnomAD v4
16g.21709965T>GCA494117533OTOAc.1182T>G (p.Val394=)
c.1058T>G (p.Leu353Trp)
c.1224T>G (p.Val408=)
c.945T>G (p.Val315=)
c.210T>G (p.Val70=)
n.402T>G
c.51T>G (p.Val17=)
n.277T>G
16g.21709966G>ACA395062295OTOAc.1183G>A (p.Val395Ile)
c.1059G>A (p.Leu353=)
c.1225G>A (p.Val409Ile)
c.946G>A (p.Val316Ile)
c.211G>A (p.Val71Ile)
n.403G>A
c.52G>A (p.Val18Ile)
n.278G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.21709966G>CCA395062299OTOAc.1183G>C (p.Val395Leu)
c.1059G>C (p.Leu353Phe)
c.1225G>C (p.Val409Leu)
c.946G>C (p.Val316Leu)
c.211G>C (p.Val71Leu)
n.403G>C
c.52G>C (p.Val18Leu)
n.278G>C
16g.21709966G=CA2212563450OTOAc.1183G= (p.Val395=)
c.1059G= (p.Leu353=)
c.1225G= (p.Val409=)
c.946G= (p.Val316=)
c.211G= (p.Val71=)
n.403G=
c.52G= (p.Val18=)
n.278G=
16g.21709966G>TCA395062297OTOAc.1183G>T (p.Val395Leu)
c.1059G>T (p.Leu353Phe)
c.1225G>T (p.Val409Leu)
c.946G>T (p.Val316Leu)
c.211G>T (p.Val71Leu)
n.403G>T
c.52G>T (p.Val18Leu)
n.278G>T
16g.21709967T>ACA395062302OTOAc.1184T>A (p.Val395Glu)
c.1060T>A (p.Ter354Lys)
c.1226T>A (p.Val409Glu)
c.947T>A (p.Val316Glu)
c.212T>A (p.Val71Glu)
n.404T>A
c.53T>A (p.Val18Glu)
n.279T>A
16g.21709967T>CCA395062303OTOAc.1184T>C (p.Val395Ala)
c.1060T>C (p.Ter354Gln)
c.1226T>C (p.Val409Ala)
c.947T>C (p.Val316Ala)
c.212T>C (p.Val71Ala)
n.404T>C
c.53T>C (p.Val18Ala)
n.279T>C
16g.21709967T>GCA395062305OTOAc.1184T>G (p.Val395Gly)
c.1060T>G (p.Ter354Glu)
c.1226T>G (p.Val409Gly)
c.947T>G (p.Val316Gly)
c.212T>G (p.Val71Gly)
n.404T>G
c.53T>G (p.Val18Gly)
n.279T>G
16g.21709968A>CCA494117534OTOAc.1185A>C (p.Val395=)
c.1061A>C (p.Ter354Ser)
c.1227A>C (p.Val409=)
c.948A>C (p.Val316=)
c.213A>C (p.Val71=)
n.405A>C
c.54A>C (p.Val18=)
n.280A>C
16g.21709968A>GCA494117535OTOAc.1185A>G (p.Val395=)
c.1061A>G (p.Ter354Trp)
c.1227A>G (p.Val409=)
c.948A>G (p.Val316=)
c.213A>G (p.Val71=)
n.405A>G
c.54A>G (p.Val18=)
n.280A>G
16g.21709968A>TCA494117536OTOAc.1185A>T (p.Val395=)
c.1061A>T (p.Ter354Leu)
c.1227A>T (p.Val409=)
c.948A>T (p.Val316=)
c.213A>T (p.Val71=)
n.405A>T
c.54A>T (p.Val18=)
n.280A>T
16g.21709969G>ACA395062309OTOAc.1186G>A (p.Gly396Ser)
c.1062G>A (p.Ter354=)
c.1228G>A (p.Gly410Ser)
c.949G>A (p.Gly317Ser)
c.214G>A (p.Gly72Ser)
n.406G>A
c.55G>A (p.Gly19Ser)
n.281G>A
 ClinVar dbSNP
16g.21709969G>CCA395062311OTOAc.1186G>C (p.Gly396Arg)
c.1062G>C (p.Ter354Tyr)
c.1228G>C (p.Gly410Arg)
c.949G>C (p.Gly317Arg)
c.214G>C (p.Gly72Arg)
n.406G>C
c.55G>C (p.Gly19Arg)
n.281G>C
16g.21709969G=CA2212563456OTOAc.1186G= (p.Gly396=)
c.1062G= (p.Ter354=)
c.1228G= (p.Gly410=)
c.949G= (p.Gly317=)
c.214G= (p.Gly72=)
n.406G=
c.55G= (p.Gly19=)
n.281G=
16g.21709969G>TCA395062312OTOAc.1186G>T (p.Gly396Cys)
c.1062G>T (p.Ter354Tyr)
c.1228G>T (p.Gly410Cys)
c.949G>T (p.Gly317Cys)
c.214G>T (p.Gly72Cys)
n.406G>T
c.55G>T (p.Gly19Cys)
n.281G>T
 gnomAD v4

Number of alleles fetched