Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770014C=CA2058957834GNPTABc.1284+7G= (n.1284+7G=)
c.1203+7G= (n.1203+7G=)
c.1068+7G= (n.1068+7G=)
c.57+7G= (n.57+7G=)
12g.101770014C>TCA607597839GNPTABc.1284+7G>A (n.1284+7G>A)
c.1203+7G>A (n.1203+7G>A)
c.1068+7G>A (n.1068+7G>A)
c.57+7G>A (n.57+7G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101770015A>TCA2620451159GNPTABc.1284+6T>A (n.1284+6T>A)
c.1203+6T>A (n.1203+6T>A)
c.1068+6T>A (n.1068+6T>A)
c.57+6T>A (n.57+6T>A)
 gnomAD v4
12g.101770016C>GCA2727001145GNPTABc.1284+5G>C (n.1284+5G>C)
c.1203+5G>C (n.1203+5G>C)
c.1068+5G>C (n.1068+5G>C)
c.57+5G>C (n.57+5G>C)
 dbSNP
12g.101770017T>CCA242462179GNPTABc.1284+4A>G (n.1284+4A>G)
c.1203+4A>G (n.1203+4A>G)
c.1068+4A>G (n.1068+4A>G)
c.57+4A>G (n.57+4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770017T=CA2058957835GNPTABc.1284+4A= (n.1284+4A=)
c.1203+4A= (n.1203+4A=)
c.1068+4A= (n.1068+4A=)
c.57+4A= (n.57+4A=)
12g.101770018C>ACA242462184GNPTABc.1284+3G>T (n.1284+3G>T)
c.1203+3G>T (n.1203+3G>T)
c.1068+3G>T (n.1068+3G>T)
c.57+3G>T (n.57+3G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101770018C=CA2058957836GNPTABc.1284+3G= (n.1284+3G=)
c.1203+3G= (n.1203+3G=)
c.1068+3G= (n.1068+3G=)
c.57+3G= (n.57+3G=)
12g.101770018C>TCA607597840GNPTABc.1284+3G>A (n.1284+3G>A)
c.1203+3G>A (n.1203+3G>A)
c.1068+3G>A (n.1068+3G>A)
c.57+3G>A (n.57+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770019A>CCA386302312GNPTABc.1284+2T>G (n.1284+2T>G)
c.1203+2T>G (n.1203+2T>G)
c.1068+2T>G (n.1068+2T>G)
c.57+2T>G (n.57+2T>G)
12g.101770019A>GCA386302314GNPTABc.1284+2T>C (n.1284+2T>C)
c.1203+2T>C (n.1203+2T>C)
c.1068+2T>C (n.1068+2T>C)
c.57+2T>C (n.57+2T>C)
 gnomAD v4
12g.101770019A>TCA386302316GNPTABc.1284+2T>A (n.1284+2T>A)
c.1203+2T>A (n.1203+2T>A)
c.1068+2T>A (n.1068+2T>A)
c.57+2T>A (n.57+2T>A)
12g.101770020C>ACA386302320GNPTABc.1284+1G>T (n.1284+1G>T)
c.1203+1G>T (n.1203+1G>T)
c.1068+1G>T (n.1068+1G>T)
c.57+1G>T (n.57+1G>T)
 ClinVar dbSNP
12g.101770020C=CA2058957837GNPTABc.1284+1G= (n.1284+1G=)
c.1203+1G= (n.1203+1G=)
c.1068+1G= (n.1068+1G=)
c.57+1G= (n.57+1G=)
12g.101770020C>GCA386302318GNPTABc.1284+1G>C (n.1284+1G>C)
c.1203+1G>C (n.1203+1G>C)
c.1068+1G>C (n.1068+1G>C)
c.57+1G>C (n.57+1G>C)
12g.101770020C>TCA386302319GNPTABc.1284+1G>A (n.1284+1G>A)
c.1203+1G>A (n.1203+1G>A)
c.1068+1G>A (n.1068+1G>A)
c.57+1G>A (n.57+1G>A)
 ClinVar
12g.101770021C>ACA386302323GNPTABc.1284G>T (p.Lys428Asn)
c.1203G>T (p.Lys401Asn)
c.1068G>T (p.Lys356Asn)
c.57G>T (p.Lys19Asn)
12g.101770021C=CA2058957838GNPTABc.1284G= (p.Lys428=)
c.1203G= (p.Lys401=)
c.1068G= (p.Lys356=)
c.57G= (p.Lys19=)
12g.101770021C>GCA386302324GNPTABc.1284G>C (p.Lys428Asn)
c.1203G>C (p.Lys401Asn)
c.1068G>C (p.Lys356Asn)
c.57G>C (p.Lys19Asn)
 dbSNP gnomAD v2
12g.101770021C>TCA481577824GNPTABc.1284G>A (p.Lys428=)
c.1203G>A (p.Lys401=)
c.1068G>A (p.Lys356=)
c.57G>A (p.Lys19=)
12g.101770022T>ACA386302325GNPTABc.1283A>T (p.Lys428Met)
c.1202A>T (p.Lys401Met)
c.1067A>T (p.Lys356Met)
c.56A>T (p.Lys19Met)
12g.101770022T>CCA6746673GNPTABc.1283A>G (p.Lys428Arg)
c.1202A>G (p.Lys401Arg)
c.1067A>G (p.Lys356Arg)
c.56A>G (p.Lys19Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770022T>GCA386302326GNPTABc.1283A>C (p.Lys428Thr)
c.1202A>C (p.Lys401Thr)
c.1067A>C (p.Lys356Thr)
c.56A>C (p.Lys19Thr)
12g.101770022T=CA2058957839GNPTABc.1283A= (p.Lys428=)
c.1202A= (p.Lys401=)
c.1067A= (p.Lys356=)
c.56A= (p.Lys19=)
12g.101770023T>ACA386302328GNPTABc.1282A>T (p.Lys428Ter)
c.1201A>T (p.Lys401Ter)
c.1066A>T (p.Lys356Ter)
c.55A>T (p.Lys19Ter)
12g.101770023T>CCA386302330GNPTABc.1282A>G (p.Lys428Glu)
c.1201A>G (p.Lys401Glu)
c.1066A>G (p.Lys356Glu)
c.55A>G (p.Lys19Glu)
12g.101770023T>GCA386302332GNPTABc.1282A>C (p.Lys428Gln)
c.1201A>C (p.Lys401Gln)
c.1066A>C (p.Lys356Gln)
c.55A>C (p.Lys19Gln)
12g.101770024C>ACA386302334GNPTABc.1281G>T (p.Gln427His)
c.1200G>T (p.Gln400His)
c.1065G>T (p.Gln355His)
c.54G>T (p.Gln18His)
12g.101770024C>GCA386302335GNPTABc.1281G>C (p.Gln427His)
c.1200G>C (p.Gln400His)
c.1065G>C (p.Gln355His)
c.54G>C (p.Gln18His)
12g.101770024C>TCA481577825GNPTABc.1281G>A (p.Gln427=)
c.1200G>A (p.Gln400=)
c.1065G>A (p.Gln355=)
c.54G>A (p.Gln18=)
 ClinVar dbSNP
12g.101770025T>ACA386302337GNPTABc.1280A>T (p.Gln427Leu)
c.1199A>T (p.Gln400Leu)
c.1064A>T (p.Gln355Leu)
c.53A>T (p.Gln18Leu)
12g.101770025T>CCA386302339GNPTABc.1280A>G (p.Gln427Arg)
c.1199A>G (p.Gln400Arg)
c.1064A>G (p.Gln355Arg)
c.53A>G (p.Gln18Arg)
12g.101770025T>GCA386302340GNPTABc.1280A>C (p.Gln427Pro)
c.1199A>C (p.Gln400Pro)
c.1064A>C (p.Gln355Pro)
c.53A>C (p.Gln18Pro)
12g.101770026G>ACA386302344GNPTABc.1279C>T (p.Gln427Ter)
c.1198C>T (p.Gln400Ter)
c.1063C>T (p.Gln355Ter)
c.52C>T (p.Gln18Ter)
12g.101770026G>CCA386302345GNPTABc.1279C>G (p.Gln427Glu)
c.1198C>G (p.Gln400Glu)
c.1063C>G (p.Gln355Glu)
c.52C>G (p.Gln18Glu)
12g.101770026G>TCA386302342GNPTABc.1279C>A (p.Gln427Lys)
c.1198C>A (p.Gln400Lys)
c.1063C>A (p.Gln355Lys)
c.52C>A (p.Gln18Lys)
12g.101770027G>ACA481577826GNPTABc.1278C>T (p.Gly426=)
c.1197C>T (p.Gly399=)
c.1062C>T (p.Gly354=)
c.51C>T (p.Gly17=)
 dbSNP gnomAD v2
12g.101770027G>CCA481577827GNPTABc.1278C>G (p.Gly426=)
c.1197C>G (p.Gly399=)
c.1062C>G (p.Gly354=)
c.51C>G (p.Gly17=)
12g.101770027G=CA2058957840GNPTABc.1278C= (p.Gly426=)
c.1197C= (p.Gly399=)
c.1062C= (p.Gly354=)
c.51C= (p.Gly17=)
12g.101770027G>TCA481577828GNPTABc.1278C>A (p.Gly426=)
c.1197C>A (p.Gly399=)
c.1062C>A (p.Gly354=)
c.51C>A (p.Gly17=)
12g.101770028C>ACA386302347GNPTABc.1277G>T (p.Gly426Val)
c.1196G>T (p.Gly399Val)
c.1061G>T (p.Gly354Val)
c.50G>T (p.Gly17Val)
 dbSNP gnomAD v2
12g.101770028C=CA2058957841GNPTABc.1277G= (p.Gly426=)
c.1196G= (p.Gly399=)
c.1061G= (p.Gly354=)
c.50G= (p.Gly17=)
12g.101770028C>GCA386302349GNPTABc.1277G>C (p.Gly426Ala)
c.1196G>C (p.Gly399Ala)
c.1061G>C (p.Gly354Ala)
c.50G>C (p.Gly17Ala)
12g.101770028C>TCA386302348GNPTABc.1277G>A (p.Gly426Asp)
c.1196G>A (p.Gly399Asp)
c.1061G>A (p.Gly354Asp)
c.50G>A (p.Gly17Asp)
 dbSNP gnomAD v4
12g.101770029C>ACA386302351GNPTABc.1276G>T (p.Gly426Cys)
c.1195G>T (p.Gly399Cys)
c.1060G>T (p.Gly354Cys)
c.49G>T (p.Gly17Cys)
12g.101770029C>GCA386302354GNPTABc.1276G>C (p.Gly426Arg)
c.1195G>C (p.Gly399Arg)
c.1060G>C (p.Gly354Arg)
c.49G>C (p.Gly17Arg)
12g.101770029C>TCA386302352GNPTABc.1276G>A (p.Gly426Ser)
c.1195G>A (p.Gly399Ser)
c.1060G>A (p.Gly354Ser)
c.49G>A (p.Gly17Ser)
 gnomAD v4
12g.101770030T>ACA386302355GNPTABc.1275A>T (p.Lys425Asn)
c.1194A>T (p.Lys398Asn)
c.1059A>T (p.Lys353Asn)
c.48A>T (p.Lys16Asn)
12g.101770030T>CCA481577829GNPTABc.1275A>G (p.Lys425=)
c.1194A>G (p.Lys398=)
c.1059A>G (p.Lys353=)
c.48A>G (p.Lys16=)
12g.101770030T>GCA386302361GNPTABc.1275A>C (p.Lys425Asn)
c.1194A>C (p.Lys398Asn)
c.1059A>C (p.Lys353Asn)
c.48A>C (p.Lys16Asn)
12g.101770031T>ACA386302363GNPTABc.1274A>T (p.Lys425Ile)
c.1193A>T (p.Lys398Ile)
c.1058A>T (p.Lys353Ile)
c.47A>T (p.Lys16Ile)
12g.101770031T>CCA386302364GNPTABc.1274A>G (p.Lys425Arg)
c.1193A>G (p.Lys398Arg)
c.1058A>G (p.Lys353Arg)
c.47A>G (p.Lys16Arg)
12g.101770031T>GCA386302366GNPTABc.1274A>C (p.Lys425Thr)
c.1193A>C (p.Lys398Thr)
c.1058A>C (p.Lys353Thr)
c.47A>C (p.Lys16Thr)
12g.101770032T>ACA386302367GNPTABc.1273A>T (p.Lys425Ter)
c.1192A>T (p.Lys398Ter)
c.1057A>T (p.Lys353Ter)
c.46A>T (p.Lys16Ter)
12g.101770032T>CCA386302368GNPTABc.1273A>G (p.Lys425Glu)
c.1192A>G (p.Lys398Glu)
c.1057A>G (p.Lys353Glu)
c.46A>G (p.Lys16Glu)
12g.101770032T>GCA386302369GNPTABc.1273A>C (p.Lys425Gln)
c.1192A>C (p.Lys398Gln)
c.1057A>C (p.Lys353Gln)
c.46A>C (p.Lys16Gln)
12g.101770033G>ACA6746674GNPTABc.1272C>T (p.Ser424=)
c.1191C>T (p.Ser397=)
c.1056C>T (p.Ser352=)
c.45C>T (p.Ser15=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770033G>CCA481577830GNPTABc.1272C>G (p.Ser424=)
c.1191C>G (p.Ser397=)
c.1056C>G (p.Ser352=)
c.45C>G (p.Ser15=)
12g.101770033G=CA2058957842GNPTABc.1272C= (p.Ser424=)
c.1191C= (p.Ser397=)
c.1056C= (p.Ser352=)
c.45C= (p.Ser15=)
12g.101770033G>TCA481577831GNPTABc.1272C>A (p.Ser424=)
c.1191C>A (p.Ser397=)
c.1056C>A (p.Ser352=)
c.45C>A (p.Ser15=)
12g.101770034G>ACA386302370GNPTABc.1271C>T (p.Ser424Phe)
c.1190C>T (p.Ser397Phe)
c.1055C>T (p.Ser352Phe)
c.44C>T (p.Ser15Phe)
 gnomAD v4
12g.101770034G>CCA386302371GNPTABc.1271C>G (p.Ser424Cys)
c.1190C>G (p.Ser397Cys)
c.1055C>G (p.Ser352Cys)
c.44C>G (p.Ser15Cys)
 gnomAD v4
12g.101770034G>TCA386302373GNPTABc.1271C>A (p.Ser424Tyr)
c.1190C>A (p.Ser397Tyr)
c.1055C>A (p.Ser352Tyr)
c.44C>A (p.Ser15Tyr)
12g.101770035A>CCA386302376GNPTABc.1270T>G (p.Ser424Ala)
c.1189T>G (p.Ser397Ala)
c.1054T>G (p.Ser352Ala)
c.43T>G (p.Ser15Ala)
12g.101770035A>GCA386302375GNPTABc.1270T>C (p.Ser424Pro)
c.1189T>C (p.Ser397Pro)
c.1054T>C (p.Ser352Pro)
c.43T>C (p.Ser15Pro)
12g.101770035A>TCA386302374GNPTABc.1270T>A (p.Ser424Thr)
c.1189T>A (p.Ser397Thr)
c.1054T>A (p.Ser352Thr)
c.43T>A (p.Ser15Thr)
12g.101770036G>ACA6746675GNPTABc.1269C>T (p.His423=)
c.1188C>T (p.His396=)
c.1053C>T (p.His351=)
c.42C>T (p.His14=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770036G>CCA386302378GNPTABc.1269C>G (p.His423Gln)
c.1188C>G (p.His396Gln)
c.1053C>G (p.His351Gln)
c.42C>G (p.His14Gln)
12g.101770036G=CA2058957843GNPTABc.1269C= (p.His423=)
c.1188C= (p.His396=)
c.1053C= (p.His351=)
c.42C= (p.His14=)
12g.101770036G>TCA386302379GNPTABc.1269C>A (p.His423Gln)
c.1188C>A (p.His396Gln)
c.1053C>A (p.His351Gln)
c.42C>A (p.His14Gln)
12g.101770037T>ACA386302380GNPTABc.1268A>T (p.His423Leu)
c.1187A>T (p.His396Leu)
c.1052A>T (p.His351Leu)
c.41A>T (p.His14Leu)
 gnomAD v4
12g.101770037T>CCA386302381GNPTABc.1268A>G (p.His423Arg)
c.1187A>G (p.His396Arg)
c.1052A>G (p.His351Arg)
c.41A>G (p.His14Arg)
12g.101770037T>GCA386302382GNPTABc.1268A>C (p.His423Pro)
c.1187A>C (p.His396Pro)
c.1052A>C (p.His351Pro)
c.41A>C (p.His14Pro)
12g.101770038G>ACA386302383GNPTABc.1267C>T (p.His423Tyr)
c.1186C>T (p.His396Tyr)
c.1051C>T (p.His351Tyr)
c.40C>T (p.His14Tyr)
 dbSNP gnomAD v4
12g.101770038G>CCA386302384GNPTABc.1267C>G (p.His423Asp)
c.1186C>G (p.His396Asp)
c.1051C>G (p.His351Asp)
c.40C>G (p.His14Asp)
12g.101770038G=CA2058957844GNPTABc.1267C= (p.His423=)
c.1186C= (p.His396=)
c.1051C= (p.His351=)
c.40C= (p.His14=)
12g.101770038G>TCA386302385GNPTABc.1267C>A (p.His423Asn)
c.1186C>A (p.His396Asn)
c.1051C>A (p.His351Asn)
c.40C>A (p.His14Asn)
 dbSNP
12g.101770039A=CA2058957845GNPTABc.1266T= (p.Ser422=)
c.1185T= (p.Ser395=)
c.1050T= (p.Ser350=)
c.39T= (p.Ser13=)
12g.101770039A>CCA386302386GNPTABc.1266T>G (p.Ser422Arg)
c.1185T>G (p.Ser395Arg)
c.1050T>G (p.Ser350Arg)
c.39T>G (p.Ser13Arg)
12g.101770039A>GCA481577832GNPTABc.1266T>C (p.Ser422=)
c.1185T>C (p.Ser395=)
c.1050T>C (p.Ser350=)
c.39T>C (p.Ser13=)
12g.101770039A>TCA386302387GNPTABc.1266T>A (p.Ser422Arg)
c.1185T>A (p.Ser395Arg)
c.1050T>A (p.Ser350Arg)
c.39T>A (p.Ser13Arg)
 dbSNP
12g.101770040C>ACA386302391GNPTABc.1265G>T (p.Ser422Ile)
c.1184G>T (p.Ser395Ile)
c.1049G>T (p.Ser350Ile)
c.38G>T (p.Ser13Ile)
12g.101770040C=CA2058957846GNPTABc.1265G= (p.Ser422=)
c.1184G= (p.Ser395=)
c.1049G= (p.Ser350=)
c.38G= (p.Ser13=)
12g.101770040C>GCA386302392GNPTABc.1265G>C (p.Ser422Thr)
c.1184G>C (p.Ser395Thr)
c.1049G>C (p.Ser350Thr)
c.38G>C (p.Ser13Thr)
12g.101770040C>TCA386302390GNPTABc.1265G>A (p.Ser422Asn)
c.1184G>A (p.Ser395Asn)
c.1049G>A (p.Ser350Asn)
c.38G>A (p.Ser13Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.101770041T>ACA386302393GNPTABc.1264A>T (p.Ser422Cys)
c.1183A>T (p.Ser395Cys)
c.1048A>T (p.Ser350Cys)
c.37A>T (p.Ser13Cys)
12g.101770041T>CCA386302395GNPTABc.1264A>G (p.Ser422Gly)
c.1183A>G (p.Ser395Gly)
c.1048A>G (p.Ser350Gly)
c.37A>G (p.Ser13Gly)
 gnomAD v4
12g.101770041T>GCA386302397GNPTABc.1264A>C (p.Ser422Arg)
c.1183A>C (p.Ser395Arg)
c.1048A>C (p.Ser350Arg)
c.37A>C (p.Ser13Arg)
12g.101770042G>ACA6746676GNPTABc.1263C>T (p.Tyr421=)
c.1182C>T (p.Tyr394=)
c.1047C>T (p.Tyr349=)
c.36C>T (p.Tyr12=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770042G>CCA386302399GNPTABc.1263C>G (p.Tyr421Ter)
c.1182C>G (p.Tyr394Ter)
c.1047C>G (p.Tyr349Ter)
c.36C>G (p.Tyr12Ter)
12g.101770042G=CA2058957847GNPTABc.1263C= (p.Tyr421=)
c.1182C= (p.Tyr394=)
c.1047C= (p.Tyr349=)
c.36C= (p.Tyr12=)
12g.101770042G>TCA386302400GNPTABc.1263C>A (p.Tyr421Ter)
c.1182C>A (p.Tyr394Ter)
c.1047C>A (p.Tyr349Ter)
c.36C>A (p.Tyr12Ter)
12g.101770043T>ACA386302402GNPTABc.1262A>T (p.Tyr421Phe)
c.1181A>T (p.Tyr394Phe)
c.1046A>T (p.Tyr349Phe)
c.35A>T (p.Tyr12Phe)
12g.101770043T>CCA386302403GNPTABc.1262A>G (p.Tyr421Cys)
c.1181A>G (p.Tyr394Cys)
c.1046A>G (p.Tyr349Cys)
c.35A>G (p.Tyr12Cys)
 dbSNP gnomAD v4
12g.101770043T>GCA386302405GNPTABc.1262A>C (p.Tyr421Ser)
c.1181A>C (p.Tyr394Ser)
c.1046A>C (p.Tyr349Ser)
c.35A>C (p.Tyr12Ser)
12g.101770043T=CA2058957848GNPTABc.1262A= (p.Tyr421=)
c.1181A= (p.Tyr394=)
c.1046A= (p.Tyr349=)
c.35A= (p.Tyr12=)
12g.101770044A>CCA386302406GNPTABc.1261T>G (p.Tyr421Asp)
c.1180T>G (p.Tyr394Asp)
c.1045T>G (p.Tyr349Asp)
c.34T>G (p.Tyr12Asp)
12g.101770044A>GCA386302408GNPTABc.1261T>C (p.Tyr421His)
c.1180T>C (p.Tyr394His)
c.1045T>C (p.Tyr349His)
c.34T>C (p.Tyr12His)
12g.101770044A>TCA386302410GNPTABc.1261T>A (p.Tyr421Asn)
c.1180T>A (p.Tyr394Asn)
c.1045T>A (p.Tyr349Asn)
c.34T>A (p.Tyr12Asn)
12g.101770048dupCA607597841GNPTABc.1261dup (p.Tyr421LeufsTer28)
c.1180dup (p.Tyr394LeufsTer28)
c.1045dup (p.Tyr349LeufsTer28)
c.34dup (p.Tyr12LeufsTer28)
 dbSNP gnomAD v2 gnomAD v4
12g.101770045A>CCA386302413GNPTABc.1260T>G (p.Phe420Leu)
c.1179T>G (p.Phe393Leu)
c.1044T>G (p.Phe348Leu)
c.33T>G (p.Phe11Leu)
12g.101770045A>GCA481577833GNPTABc.1260T>C (p.Phe420=)
c.1179T>C (p.Phe393=)
c.1044T>C (p.Phe348=)
c.33T>C (p.Phe11=)
12g.101770045A>TCA386302412GNPTABc.1260T>A (p.Phe420Leu)
c.1179T>A (p.Phe393Leu)
c.1044T>A (p.Phe348Leu)
c.33T>A (p.Phe11Leu)
12g.101770046A>CCA386302415GNPTABc.1259T>G (p.Phe420Cys)
c.1178T>G (p.Phe393Cys)
c.1043T>G (p.Phe348Cys)
c.32T>G (p.Phe11Cys)
12g.101770046A>GCA386302416GNPTABc.1259T>C (p.Phe420Ser)
c.1178T>C (p.Phe393Ser)
c.1043T>C (p.Phe348Ser)
c.32T>C (p.Phe11Ser)
12g.101770046A>TCA386302418GNPTABc.1259T>A (p.Phe420Tyr)
c.1178T>A (p.Phe393Tyr)
c.1043T>A (p.Phe348Tyr)
c.32T>A (p.Phe11Tyr)
12g.101770047A=CA2058957849GNPTABc.1258T= (p.Phe420=)
c.1177T= (p.Phe393=)
c.1042T= (p.Phe348=)
c.31T= (p.Phe11=)
12g.101770047A>CCA242462201GNPTABc.1258T>G (p.Phe420Val)
c.1177T>G (p.Phe393Val)
c.1042T>G (p.Phe348Val)
c.31T>G (p.Phe11Val)
 dbSNP gnomAD v3 gnomAD v4
12g.101770047A>GCA386302420GNPTABc.1258T>C (p.Phe420Leu)
c.1177T>C (p.Phe393Leu)
c.1042T>C (p.Phe348Leu)
c.31T>C (p.Phe11Leu)
12g.101770047A>TCA386302422GNPTABc.1258T>A (p.Phe420Ile)
c.1177T>A (p.Phe393Ile)
c.1042T>A (p.Phe348Ile)
c.31T>A (p.Phe11Ile)
 gnomAD v4
12g.101770048A>CCA386302423GNPTABc.1257T>G (p.Asp419Glu)
c.1176T>G (p.Asp392Glu)
c.1041T>G (p.Asp347Glu)
c.30T>G (p.Asp10Glu)
12g.101770048A>GCA481577834GNPTABc.1257T>C (p.Asp419=)
c.1176T>C (p.Asp392=)
c.1041T>C (p.Asp347=)
c.30T>C (p.Asp10=)
 ClinVar dbSNP
12g.101770048A>TCA386302425GNPTABc.1257T>A (p.Asp419Glu)
c.1176T>A (p.Asp392Glu)
c.1041T>A (p.Asp347Glu)
c.30T>A (p.Asp10Glu)
12g.101770049T>ACA386302426GNPTABc.1256A>T (p.Asp419Val)
c.1175A>T (p.Asp392Val)
c.1040A>T (p.Asp347Val)
c.29A>T (p.Asp10Val)
12g.101770049T>CCA386302427GNPTABc.1256A>G (p.Asp419Gly)
c.1175A>G (p.Asp392Gly)
c.1040A>G (p.Asp347Gly)
c.29A>G (p.Asp10Gly)
12g.101770049T>GCA386302429GNPTABc.1256A>C (p.Asp419Ala)
c.1175A>C (p.Asp392Ala)
c.1040A>C (p.Asp347Ala)
c.29A>C (p.Asp10Ala)
12g.101770050C>ACA386302431GNPTABc.1255G>T (p.Asp419Tyr)
c.1174G>T (p.Asp392Tyr)
c.1039G>T (p.Asp347Tyr)
c.28G>T (p.Asp10Tyr)
 gnomAD v4
12g.101770050C>GCA386302433GNPTABc.1255G>C (p.Asp419His)
c.1174G>C (p.Asp392His)
c.1039G>C (p.Asp347His)
c.28G>C (p.Asp10His)
12g.101770050C>TCA386302434GNPTABc.1255G>A (p.Asp419Asn)
c.1174G>A (p.Asp392Asn)
c.1039G>A (p.Asp347Asn)
c.28G>A (p.Asp10Asn)
12g.101770051A>CCA386302437GNPTABc.1254T>G (p.Asp418Glu)
c.1173T>G (p.Asp391Glu)
c.1038T>G (p.Asp346Glu)
c.27T>G (p.Asp9Glu)
12g.101770051A>GCA481577835GNPTABc.1254T>C (p.Asp418=)
c.1173T>C (p.Asp391=)
c.1038T>C (p.Asp346=)
c.27T>C (p.Asp9=)
12g.101770051A>TCA386302435GNPTABc.1254T>A (p.Asp418Glu)
c.1173T>A (p.Asp391Glu)
c.1038T>A (p.Asp346Glu)
c.27T>A (p.Asp9Glu)
12g.101770052T>ACA386302439GNPTABc.1253A>T (p.Asp418Val)
c.1172A>T (p.Asp391Val)
c.1037A>T (p.Asp346Val)
c.26A>T (p.Asp9Val)
 gnomAD v4
12g.101770052T>CCA242462206GNPTABc.1253A>G (p.Asp418Gly)
c.1172A>G (p.Asp391Gly)
c.1037A>G (p.Asp346Gly)
c.26A>G (p.Asp9Gly)
 dbSNP
12g.101770052T>GCA386302440GNPTABc.1253A>C (p.Asp418Ala)
c.1172A>C (p.Asp391Ala)
c.1037A>C (p.Asp346Ala)
c.26A>C (p.Asp9Ala)
12g.101770052T=CA2058957850GNPTABc.1253A= (p.Asp418=)
c.1172A= (p.Asp391=)
c.1037A= (p.Asp346=)
c.26A= (p.Asp9=)
12g.101770053C>ACA386302441GNPTABc.1252G>T (p.Asp418Tyr)
c.1171G>T (p.Asp391Tyr)
c.1036G>T (p.Asp346Tyr)
c.25G>T (p.Asp9Tyr)
 gnomAD v4
12g.101770053C=CA2058957851GNPTABc.1252G= (p.Asp418=)
c.1171G= (p.Asp391=)
c.1036G= (p.Asp346=)
c.25G= (p.Asp9=)
12g.101770053C>GCA386302442GNPTABc.1252G>C (p.Asp418His)
c.1171G>C (p.Asp391His)
c.1036G>C (p.Asp346His)
c.25G>C (p.Asp9His)
 dbSNP
12g.101770053C>TCA386302443GNPTABc.1252G>A (p.Asp418Asn)
c.1171G>A (p.Asp391Asn)
c.1036G>A (p.Asp346Asn)
c.25G>A (p.Asp9Asn)
 ClinVar dbSNP
12g.101770054T>ACA481577836GNPTABc.1251A>T (p.Pro417=)
c.1170A>T (p.Pro390=)
c.1035A>T (p.Pro345=)
c.24A>T (p.Pro8=)
12g.101770054T>CCA481577837GNPTABc.1251A>G (p.Pro417=)
c.1170A>G (p.Pro390=)
c.1035A>G (p.Pro345=)
c.24A>G (p.Pro8=)
12g.101770054T>GCA481577838GNPTABc.1251A>C (p.Pro417=)
c.1170A>C (p.Pro390=)
c.1035A>C (p.Pro345=)
c.24A>C (p.Pro8=)
12g.101770055G>ACA386302444GNPTABc.1250C>T (p.Pro417Leu)
c.1169C>T (p.Pro390Leu)
c.1034C>T (p.Pro345Leu)
c.23C>T (p.Pro8Leu)
12g.101770055G>CCA386302446GNPTABc.1250C>G (p.Pro417Arg)
c.1169C>G (p.Pro390Arg)
c.1034C>G (p.Pro345Arg)
c.23C>G (p.Pro8Arg)
12g.101770055G>TCA386302447GNPTABc.1250C>A (p.Pro417Gln)
c.1169C>A (p.Pro390Gln)
c.1034C>A (p.Pro345Gln)
c.23C>A (p.Pro8Gln)
 COSMIC COSMIC
12g.101770056G>ACA386302448GNPTABc.1249C>T (p.Pro417Ser)
c.1168C>T (p.Pro390Ser)
c.1033C>T (p.Pro345Ser)
c.22C>T (p.Pro8Ser)
 gnomAD v4
12g.101770056G>CCA386302450GNPTABc.1249C>G (p.Pro417Ala)
c.1168C>G (p.Pro390Ala)
c.1033C>G (p.Pro345Ala)
c.22C>G (p.Pro8Ala)
12g.101770056G>TCA386302451GNPTABc.1249C>A (p.Pro417Thr)
c.1168C>A (p.Pro390Thr)
c.1033C>A (p.Pro345Thr)
c.22C>A (p.Pro8Thr)
12g.101770057C>ACA386302452GNPTABc.1248G>T (p.Trp416Cys)
c.1167G>T (p.Trp389Cys)
c.1032G>T (p.Trp344Cys)
c.21G>T (p.Trp7Cys)
12g.101770057C>GCA386302453GNPTABc.1248G>C (p.Trp416Cys)
c.1167G>C (p.Trp389Cys)
c.1032G>C (p.Trp344Cys)
c.21G>C (p.Trp7Cys)
12g.101770057C>TCA386302454GNPTABc.1248G>A (p.Trp416Ter)
c.1167G>A (p.Trp389Ter)
c.1032G>A (p.Trp344Ter)
c.21G>A (p.Trp7Ter)
12g.101770058C>ACA386302458GNPTABc.1247G>T (p.Trp416Leu)
c.1166G>T (p.Trp389Leu)
c.1031G>T (p.Trp344Leu)
c.20G>T (p.Trp7Leu)
12g.101770058C=CA2058957852GNPTABc.1247G= (p.Trp416=)
c.1166G= (p.Trp389=)
c.1031G= (p.Trp344=)
c.20G= (p.Trp7=)
12g.101770058C>GCA386302455GNPTABc.1247G>C (p.Trp416Ser)
c.1166G>C (p.Trp389Ser)
c.1031G>C (p.Trp344Ser)
c.20G>C (p.Trp7Ser)
12g.101770058C>TCA386302457GNPTABc.1247G>A (p.Trp416Ter)
c.1166G>A (p.Trp389Ter)
c.1031G>A (p.Trp344Ter)
c.20G>A (p.Trp7Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770059A>CCA386302460GNPTABc.1246T>G (p.Trp416Gly)
c.1165T>G (p.Trp389Gly)
c.1030T>G (p.Trp344Gly)
c.19T>G (p.Trp7Gly)
12g.101770059A>GCA386302461GNPTABc.1246T>C (p.Trp416Arg)
c.1165T>C (p.Trp389Arg)
c.1030T>C (p.Trp344Arg)
c.19T>C (p.Trp7Arg)
12g.101770059A>TCA386302462GNPTABc.1246T>A (p.Trp416Arg)
c.1165T>A (p.Trp389Arg)
c.1030T>A (p.Trp344Arg)
c.19T>A (p.Trp7Arg)
12g.101770059dupCA2580085717GNPTABc.1246dup (p.Trp416LeufsTer4)
c.1165dup (p.Trp389LeufsTer4)
c.1030dup (p.Trp344LeufsTer4)
c.19dup (p.Trp7LeufsTer4)
 ClinVar
12g.101770060G>ACA481577841GNPTABc.1245C>T (p.Val415=)
c.1164C>T (p.Val388=)
c.1029C>T (p.Val343=)
c.18C>T (p.Val6=)
12g.101770060G>CCA481577840GNPTABc.1245C>G (p.Val415=)
c.1164C>G (p.Val388=)
c.1029C>G (p.Val343=)
c.18C>G (p.Val6=)
12g.101770060G>TCA481577839GNPTABc.1245C>A (p.Val415=)
c.1164C>A (p.Val388=)
c.1029C>A (p.Val343=)
c.18C>A (p.Val6=)
12g.101770061A>CCA386302464GNPTABc.1244T>G (p.Val415Gly)
c.1163T>G (p.Val388Gly)
c.1028T>G (p.Val343Gly)
c.17T>G (p.Val6Gly)
12g.101770061A>GCA386302465GNPTABc.1244T>C (p.Val415Ala)
c.1163T>C (p.Val388Ala)
c.1028T>C (p.Val343Ala)
c.17T>C (p.Val6Ala)
 gnomAD v4
12g.101770061A>TCA386302466GNPTABc.1244T>A (p.Val415Asp)
c.1163T>A (p.Val388Asp)
c.1028T>A (p.Val343Asp)
c.17T>A (p.Val6Asp)
12g.101770062C>ACA386302469GNPTABc.1243G>T (p.Val415Phe)
c.1162G>T (p.Val388Phe)
c.1027G>T (p.Val343Phe)
c.16G>T (p.Val6Phe)
12g.101770062C>GCA386302470GNPTABc.1243G>C (p.Val415Leu)
c.1162G>C (p.Val388Leu)
c.1027G>C (p.Val343Leu)
c.16G>C (p.Val6Leu)
12g.101770062C>TCA386302471GNPTABc.1243G>A (p.Val415Ile)
c.1162G>A (p.Val388Ile)
c.1027G>A (p.Val343Ile)
c.16G>A (p.Val6Ile)
12g.101770063A>CCA386302473GNPTABc.1242T>G (p.Asp414Glu)
c.1161T>G (p.Asp387Glu)
c.1026T>G (p.Asp342Glu)
c.15T>G (p.Asp5Glu)
12g.101770063A>GCA481577842GNPTABc.1242T>C (p.Asp414=)
c.1161T>C (p.Asp387=)
c.1026T>C (p.Asp342=)
c.15T>C (p.Asp5=)
12g.101770063A>TCA386302474GNPTABc.1242T>A (p.Asp414Glu)
c.1161T>A (p.Asp387Glu)
c.1026T>A (p.Asp342Glu)
c.15T>A (p.Asp5Glu)
12g.101770064T>ACA386302478GNPTABc.1241A>T (p.Asp414Val)
c.1160A>T (p.Asp387Val)
c.1025A>T (p.Asp342Val)
c.14A>T (p.Asp5Val)
 dbSNP gnomAD v3 gnomAD v4
12g.101770064T>CCA386302477GNPTABc.1241A>G (p.Asp414Gly)
c.1160A>G (p.Asp387Gly)
c.1025A>G (p.Asp342Gly)
c.14A>G (p.Asp5Gly)
 gnomAD v4
12g.101770064T>GCA6746677GNPTABc.1241A>C (p.Asp414Ala)
c.1160A>C (p.Asp387Ala)
c.1025A>C (p.Asp342Ala)
c.14A>C (p.Asp5Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770064T=CA2058957853GNPTABc.1241A= (p.Asp414=)
c.1160A= (p.Asp387=)
c.1025A= (p.Asp342=)
c.14A= (p.Asp5=)
12g.101770065C>ACA386302480GNPTABc.1240G>T (p.Asp414Tyr)
c.1159G>T (p.Asp387Tyr)
c.1024G>T (p.Asp342Tyr)
c.13G>T (p.Asp5Tyr)
12g.101770065C>GCA386302481GNPTABc.1240G>C (p.Asp414His)
c.1159G>C (p.Asp387His)
c.1024G>C (p.Asp342His)
c.13G>C (p.Asp5His)
12g.101770065C>TCA386302482GNPTABc.1240G>A (p.Asp414Asn)
c.1159G>A (p.Asp387Asn)
c.1024G>A (p.Asp342Asn)
c.13G>A (p.Asp5Asn)
12g.101770066C>ACA386302484GNPTABc.1239G>T (p.Lys413Asn)
c.1158G>T (p.Lys386Asn)
c.1023G>T (p.Lys341Asn)
c.12G>T (p.Lys4Asn)
 dbSNP
12g.101770066C=CA2058957854GNPTABc.1239G= (p.Lys413=)
c.1158G= (p.Lys386=)
c.1023G= (p.Lys341=)
c.12G= (p.Lys4=)
12g.101770066C>GCA386302485GNPTABc.1239G>C (p.Lys413Asn)
c.1158G>C (p.Lys386Asn)
c.1023G>C (p.Lys341Asn)
c.12G>C (p.Lys4Asn)
12g.101770066C>TCA481577843GNPTABc.1239G>A (p.Lys413=)
c.1158G>A (p.Lys386=)
c.1023G>A (p.Lys341=)
c.12G>A (p.Lys4=)
 ClinVar
12g.101770067T>ACA386302490GNPTABc.1238A>T (p.Lys413Met)
c.1157A>T (p.Lys386Met)
c.1022A>T (p.Lys341Met)
c.11A>T (p.Lys4Met)
12g.101770067T>CCA386302488GNPTABc.1238A>G (p.Lys413Arg)
c.1157A>G (p.Lys386Arg)
c.1022A>G (p.Lys341Arg)
c.11A>G (p.Lys4Arg)
12g.101770067T>GCA386302486GNPTABc.1238A>C (p.Lys413Thr)
c.1157A>C (p.Lys386Thr)
c.1022A>C (p.Lys341Thr)
c.11A>C (p.Lys4Thr)
 COSMIC COSMIC
12g.101770068T>ACA386302491GNPTABc.1237A>T (p.Lys413Ter)
c.1156A>T (p.Lys386Ter)
c.1021A>T (p.Lys341Ter)
c.10A>T (p.Lys4Ter)
12g.101770068T>CCA386302492GNPTABc.1237A>G (p.Lys413Glu)
c.1156A>G (p.Lys386Glu)
c.1021A>G (p.Lys341Glu)
c.10A>G (p.Lys4Glu)
 ClinVar
12g.101770068T>GCA386302493GNPTABc.1237A>C (p.Lys413Gln)
c.1156A>C (p.Lys386Gln)
c.1021A>C (p.Lys341Gln)
c.10A>C (p.Lys4Gln)
12g.101770069C>ACA481577844GNPTABc.1236G>T (p.Gly412=)
c.1155G>T (p.Gly385=)
c.1020G>T (p.Gly340=)
c.9G>T (p.Gly3=)
12g.101770069C=CA2058957855GNPTABc.1236G= (p.Gly412=)
c.1155G= (p.Gly385=)
c.1020G= (p.Gly340=)
c.9G= (p.Gly3=)
12g.101770069C>GCA481577845GNPTABc.1236G>C (p.Gly412=)
c.1155G>C (p.Gly385=)
c.1020G>C (p.Gly340=)
c.9G>C (p.Gly3=)
12g.101770069C>TCA481577846GNPTABc.1236G>A (p.Gly412=)
c.1155G>A (p.Gly385=)
c.1020G>A (p.Gly340=)
c.9G>A (p.Gly3=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770070C>ACA386302495GNPTABc.1235G>T (p.Gly412Val)
c.1154G>T (p.Gly385Val)
c.1019G>T (p.Gly340Val)
c.8G>T (p.Gly3Val)
12g.101770070C>GCA386302496GNPTABc.1235G>C (p.Gly412Ala)
c.1154G>C (p.Gly385Ala)
c.1019G>C (p.Gly340Ala)
c.8G>C (p.Gly3Ala)
12g.101770070C>TCA386302498GNPTABc.1235G>A (p.Gly412Glu)
c.1154G>A (p.Gly385Glu)
c.1019G>A (p.Gly340Glu)
c.8G>A (p.Gly3Glu)
12g.101770071C>ACA6746678GNPTABc.1234G>T (p.Gly412Trp)
c.1153G>T (p.Gly385Trp)
c.1018G>T (p.Gly340Trp)
c.7G>T (p.Gly3Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770071C=CA2058957856GNPTABc.1234G= (p.Gly412=)
c.1153G= (p.Gly385=)
c.1018G= (p.Gly340=)
c.7G= (p.Gly3=)
12g.101770071C>GCA386302502GNPTABc.1234G>C (p.Gly412Arg)
c.1153G>C (p.Gly385Arg)
c.1018G>C (p.Gly340Arg)
c.7G>C (p.Gly3Arg)
 gnomAD v4
12g.101770071C>TCA386302501GNPTABc.1234G>A (p.Gly412Arg)
c.1153G>A (p.Gly385Arg)
c.1018G>A (p.Gly340Arg)
c.7G>A (p.Gly3Arg)
12g.101770072A=CA2058957857GNPTABc.1233T= (p.Phe411=)
c.1152T= (p.Phe384=)
c.1017T= (p.Phe339=)
c.6T= (p.Phe2=)
12g.101770072A>CCA386302503GNPTABc.1233T>G (p.Phe411Leu)
c.1152T>G (p.Phe384Leu)
c.1017T>G (p.Phe339Leu)
c.6T>G (p.Phe2Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.101770072A>GCA481577847GNPTABc.1233T>C (p.Phe411=)
c.1152T>C (p.Phe384=)
c.1017T>C (p.Phe339=)
c.6T>C (p.Phe2=)
12g.101770072A>TCA386302504GNPTABc.1233T>A (p.Phe411Leu)
c.1152T>A (p.Phe384Leu)
c.1017T>A (p.Phe339Leu)
c.6T>A (p.Phe2Leu)
12g.101770073A>CCA386302506GNPTABc.1232T>G (p.Phe411Cys)
c.1151T>G (p.Phe384Cys)
c.1016T>G (p.Phe339Cys)
c.5T>G (p.Phe2Cys)
12g.101770073A>GCA386302508GNPTABc.1232T>C (p.Phe411Ser)
c.1151T>C (p.Phe384Ser)
c.1016T>C (p.Phe339Ser)
c.5T>C (p.Phe2Ser)
12g.101770073A>TCA386302509GNPTABc.1232T>A (p.Phe411Tyr)
c.1151T>A (p.Phe384Tyr)
c.1016T>A (p.Phe339Tyr)
c.5T>A (p.Phe2Tyr)
12g.101770074A>CCA386302511GNPTABc.1231T>G (p.Phe411Val)
c.1150T>G (p.Phe384Val)
c.1015T>G (p.Phe339Val)
c.4T>G (p.Phe2Val)
12g.101770074A>GCA386302512GNPTABc.1231T>C (p.Phe411Leu)
c.1150T>C (p.Phe384Leu)
c.1015T>C (p.Phe339Leu)
c.4T>C (p.Phe2Leu)
12g.101770074A>TCA386302513GNPTABc.1231T>A (p.Phe411Ile)
c.1150T>A (p.Phe384Ile)
c.1015T>A (p.Phe339Ile)
c.4T>A (p.Phe2Ile)
12g.101770075C>ACA386302515GNPTABc.1230G>T (p.Met410Ile)
c.1149G>T (p.Met383Ile)
c.1014G>T (p.Met338Ile)
c.3G>T (p.Met1Ile)
12g.101770075C=CA2058957858GNPTABc.1230G= (p.Met410=)
c.1149G= (p.Met383=)
c.1014G= (p.Met338=)
c.3G= (p.Met1=)
12g.101770075C>GCA6746679GNPTABc.1230G>C (p.Met410Ile)
c.1149G>C (p.Met383Ile)
c.1014G>C (p.Met338Ile)
c.3G>C (p.Met1Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770075C>TCA386302516GNPTABc.1230G>A (p.Met410Ile)
c.1149G>A (p.Met383Ile)
c.1014G>A (p.Met338Ile)
c.3G>A (p.Met1Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770076A=CA2058957859GNPTABc.1229T= (p.Met410=)
c.1148T= (p.Met383=)
c.1013T= (p.Met338=)
c.2T= (p.Met1=)
12g.101770076A>CCA386302522GNPTABc.1229T>G (p.Met410Arg)
c.1148T>G (p.Met383Arg)
c.1013T>G (p.Met338Arg)
c.2T>G (p.Met1Arg)
12g.101770076A>GCA386302520GNPTABc.1229T>C (p.Met410Thr)
c.1148T>C (p.Met383Thr)
c.1013T>C (p.Met338Thr)
c.2T>C (p.Met1Thr)
12g.101770076A>TCA386302518GNPTABc.1229T>A (p.Met410Lys)
c.1148T>A (p.Met383Lys)
c.1013T>A (p.Met338Lys)
c.2T>A (p.Met1Lys)
 dbSNP
12g.101770077T>ACA386302524GNPTABc.1228A>T (p.Met410Leu)
c.1147A>T (p.Met383Leu)
c.1012A>T (p.Met338Leu)
c.1A>T (p.Met1Leu)
12g.101770077T>CCA386302528GNPTABc.1228A>G (p.Met410Val)
c.1147A>G (p.Met383Val)
c.1012A>G (p.Met338Val)
c.1A>G (p.Met1Val)
 gnomAD v4
12g.101770077T>GCA386302526GNPTABc.1228A>C (p.Met410Leu)
c.1147A>C (p.Met383Leu)
c.1012A>C (p.Met338Leu)
c.1A>C (p.Met1Leu)
12g.101770077_101770078delCA2797214817GNPTABc.1227_1228del (p.Met410ValfsTer9)
c.1146_1147del (p.Met383ValfsTer9)
c.1011_1012del (p.Met338ValfsTer9)
c.-1_1del
12g.101770078G>ACA481577850GNPTABc.1227C>T (p.Val409=)
c.1146C>T (p.Val382=)
c.1011C>T (p.Val337=)
c.-1C>T (n.-1C>T)
12g.101770078G>CCA481577849GNPTABc.1227C>G (p.Val409=)
c.1146C>G (p.Val382=)
c.1011C>G (p.Val337=)
c.-1C>G (n.-1C>G)
12g.101770078G>TCA481577848GNPTABc.1227C>A (p.Val409=)
c.1146C>A (p.Val382=)
c.1011C>A (p.Val337=)
c.-1C>A (n.-1C>A)
 ClinVar gnomAD v4
12g.101770079A>CCA386302530GNPTABc.1226T>G (p.Val409Gly)
c.1145T>G (p.Val382Gly)
c.1010T>G (p.Val337Gly)
c.-2T>G (n.-2T>G)
12g.101770079A>GCA386302531GNPTABc.1226T>C (p.Val409Ala)
c.1145T>C (p.Val382Ala)
c.1010T>C (p.Val337Ala)
c.-2T>C (n.-2T>C)
12g.101770079A>TCA386302533GNPTABc.1226T>A (p.Val409Asp)
c.1145T>A (p.Val382Asp)
c.1010T>A (p.Val337Asp)
c.-2T>A (n.-2T>A)
12g.101770080C>ACA386302534GNPTABc.1225G>T (p.Val409Phe)
c.1144G>T (p.Val382Phe)
c.1009G>T (p.Val337Phe)
c.-3G>T (n.-3G>T)
12g.101770080C>GCA386302536GNPTABc.1225G>C (p.Val409Leu)
c.1144G>C (p.Val382Leu)
c.1009G>C (p.Val337Leu)
c.-3G>C (n.-3G>C)
12g.101770080C>TCA386302537GNPTABc.1225G>A (p.Val409Ile)
c.1144G>A (p.Val382Ile)
c.1009G>A (p.Val337Ile)
c.-3G>A (n.-3G>A)
 gnomAD v4
12g.101770086_101770088delCA2620451322GNPTABc.1223_1225del (p.Asp408del)
c.1142_1144del (p.Asp381del)
c.1007_1009del (p.Asp336del)
c.-5_-3del (n.-5_-3del)
 gnomAD v4
12g.101770081A>CCA386302539GNPTABc.1224T>G (p.Asp408Glu)
c.1143T>G (p.Asp381Glu)
c.1008T>G (p.Asp336Glu)
c.-4T>G (n.-4T>G)
12g.101770081A>GCA481577851GNPTABc.1224T>C (p.Asp408=)
c.1143T>C (p.Asp381=)
c.1008T>C (p.Asp336=)
c.-4T>C (n.-4T>C)
12g.101770081A>TCA386302540GNPTABc.1224T>A (p.Asp408Glu)
c.1143T>A (p.Asp381Glu)
c.1008T>A (p.Asp336Glu)
c.-4T>A (n.-4T>A)
12g.101770082T>ACA386302541GNPTABc.1223A>T (p.Asp408Val)
c.1142A>T (p.Asp381Val)
c.1007A>T (p.Asp336Val)
c.-5A>T (n.-5A>T)
12g.101770082T>CCA386302542GNPTABc.1223A>G (p.Asp408Gly)
c.1142A>G (p.Asp381Gly)
c.1007A>G (p.Asp336Gly)
c.-5A>G (n.-5A>G)
12g.101770082T>GCA386302543GNPTABc.1223A>C (p.Asp408Ala)
c.1142A>C (p.Asp381Ala)
c.1007A>C (p.Asp336Ala)
c.-5A>C (n.-5A>C)
12g.101770082_101770083delinsTCCA2058957860GNPTABc.1222_1223delinsGA (p.Asp408=)
c.1141_1142delinsGA (p.Asp381=)
c.1006_1007delinsGA (p.Asp336=)
c.-6_-5delinsGA (n.-6_-5delinsGA)
12g.101770083delCA6746680GNPTABc.1222del (p.Asp408MetfsTer24)
c.1141del (p.Asp381MetfsTer24)
c.1006del (p.Asp336MetfsTer24)
c.-6del (n.-6del)
 dbSNP ExAC gnomAD v2
12g.101770083C>ACA386302548GNPTABc.1222G>T (p.Asp408Tyr)
c.1141G>T (p.Asp381Tyr)
c.1006G>T (p.Asp336Tyr)
c.-6G>T (n.-6G>T)
12g.101770083C>GCA386302547GNPTABc.1222G>C (p.Asp408His)
c.1141G>C (p.Asp381His)
c.1006G>C (p.Asp336His)
c.-6G>C (n.-6G>C)
12g.101770083C>TCA386302546GNPTABc.1222G>A (p.Asp408Asn)
c.1141G>A (p.Asp381Asn)
c.1006G>A (p.Asp336Asn)
c.-6G>A (n.-6G>A)
12g.101770084A>CCA386302550GNPTABc.1221T>G (p.Asp407Glu)
c.1140T>G (p.Asp380Glu)
c.1005T>G (p.Asp335Glu)
c.-7T>G (n.-7T>G)
12g.101770084A>GCA481577852GNPTABc.1221T>C (p.Asp407=)
c.1140T>C (p.Asp380=)
c.1005T>C (p.Asp335=)
c.-7T>C (n.-7T>C)
 ClinVar dbSNP gnomAD v4
12g.101770084A>TCA386302551GNPTABc.1221T>A (p.Asp407Glu)
c.1140T>A (p.Asp380Glu)
c.1005T>A (p.Asp335Glu)
c.-7T>A (n.-7T>A)
12g.101770085T>ACA386302553GNPTABc.1220A>T (p.Asp407Val)
c.1139A>T (p.Asp380Val)
c.1004A>T (p.Asp335Val)
c.-8A>T (n.-8A>T)
12g.101770085T>CCA242462229GNPTABc.1220A>G (p.Asp407Gly)
c.1139A>G (p.Asp380Gly)
c.1004A>G (p.Asp335Gly)
c.-8A>G (n.-8A>G)
 dbSNP
12g.101770085T>GCA340006GNPTABc.1220A>C (p.Asp407Ala)
c.1139A>C (p.Asp380Ala)
c.1004A>C (p.Asp335Ala)
c.-8A>C (n.-8A>C)
 ClinVar dbSNP
12g.101770085T=CA2058957861GNPTABc.1220A= (p.Asp407=)
c.1139A= (p.Asp380=)
c.1004A= (p.Asp335=)
c.-8A= (n.-8A=)
12g.101770086C>ACA386302556GNPTABc.1219G>T (p.Asp407Tyr)
c.1138G>T (p.Asp380Tyr)
c.1003G>T (p.Asp335Tyr)
c.-9G>T (n.-9G>T)
12g.101770086C=CA2058957862GNPTABc.1219G= (p.Asp407=)
c.1138G= (p.Asp380=)
c.1003G= (p.Asp335=)
c.-9G= (n.-9G=)
12g.101770086C>GCA386302557GNPTABc.1219G>C (p.Asp407His)
c.1138G>C (p.Asp380His)
c.1003G>C (p.Asp335His)
c.-9G>C (n.-9G>C)
12g.101770086C>TCA6746681GNPTABc.1219G>A (p.Asp407Asn)
c.1138G>A (p.Asp380Asn)
c.1003G>A (p.Asp335Asn)
c.-9G>A (n.-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770087A>CCA386302558GNPTABc.1218T>G (p.Asn406Lys)
c.1137T>G (p.Asn379Lys)
c.1002T>G (p.Asn334Lys)
c.-10T>G (n.-10T>G)
12g.101770087A>GCA481577853GNPTABc.1218T>C (p.Asn406=)
c.1137T>C (p.Asn379=)
c.1002T>C (p.Asn334=)
c.-10T>C (n.-10T>C)
 ClinVar dbSNP
12g.101770087A>TCA386302560GNPTABc.1218T>A (p.Asn406Lys)
c.1137T>A (p.Asn379Lys)
c.1002T>A (p.Asn334Lys)
c.-10T>A (n.-10T>A)
12g.101770088T>ACA386302562GNPTABc.1217A>T (p.Asn406Ile)
c.1136A>T (p.Asn379Ile)
c.1001A>T (p.Asn334Ile)
c.-11A>T (n.-11A>T)
12g.101770088T>CCA386302564GNPTABc.1217A>G (p.Asn406Ser)
c.1136A>G (p.Asn379Ser)
c.1001A>G (p.Asn334Ser)
c.-11A>G (n.-11A>G)
12g.101770088T>GCA386302565GNPTABc.1217A>C (p.Asn406Thr)
c.1136A>C (p.Asn379Thr)
c.1001A>C (p.Asn334Thr)
c.-11A>C (n.-11A>C)
12g.101770089T>ACA386302569GNPTABc.1216A>T (p.Asn406Tyr)
c.1135A>T (p.Asn379Tyr)
c.1000A>T (p.Asn334Tyr)
c.-12A>T (n.-12A>T)
12g.101770089T>CCA386302570GNPTABc.1216A>G (p.Asn406Asp)
c.1135A>G (p.Asn379Asp)
c.1000A>G (p.Asn334Asp)
c.-12A>G (n.-12A>G)
12g.101770089T>GCA386302567GNPTABc.1216A>C (p.Asn406His)
c.1135A>C (p.Asn379His)
c.1000A>C (p.Asn334His)
c.-12A>C (n.-12A>C)
12g.101770090T>ACA481577854GNPTABc.1215A>T (p.Leu405=)
c.1134A>T (p.Leu378=)
c.999A>T (p.Leu333=)
c.-13A>T (n.-13A>T)
12g.101770090T>CCA481577855GNPTABc.1215A>G (p.Leu405=)
c.1134A>G (p.Leu378=)
c.999A>G (p.Leu333=)
c.-13A>G (n.-13A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770090T>GCA481577856GNPTABc.1215A>C (p.Leu405=)
c.1134A>C (p.Leu378=)
c.999A>C (p.Leu333=)
c.-13A>C (n.-13A>C)
12g.101770090T=CA2058957863GNPTABc.1215A= (p.Leu405=)
c.1134A= (p.Leu378=)
c.999A= (p.Leu333=)
c.-13A= (n.-13A=)
12g.101770091A>CCA386302572GNPTABc.1214T>G (p.Leu405Arg)
c.1133T>G (p.Leu378Arg)
c.998T>G (p.Leu333Arg)
c.-14T>G (n.-14T>G)
12g.101770091A>GCA386302573GNPTABc.1214T>C (p.Leu405Pro)
c.1133T>C (p.Leu378Pro)
c.998T>C (p.Leu333Pro)
c.-14T>C (n.-14T>C)
12g.101770091A>TCA386302575GNPTABc.1214T>A (p.Leu405Gln)
c.1133T>A (p.Leu378Gln)
c.998T>A (p.Leu333Gln)
c.-14T>A (n.-14T>A)
12g.101770092G>ACA481577857GNPTABc.1213C>T (p.Leu405=)
c.1132C>T (p.Leu378=)
c.997C>T (p.Leu333=)
c.-15C>T (n.-15C>T)
12g.101770092G>CCA386302577GNPTABc.1213C>G (p.Leu405Val)
c.1132C>G (p.Leu378Val)
c.997C>G (p.Leu333Val)
c.-15C>G (n.-15C>G)
12g.101770092G>TCA386302579GNPTABc.1213C>A (p.Leu405Ile)
c.1132C>A (p.Leu378Ile)
c.997C>A (p.Leu333Ile)
c.-15C>A (n.-15C>A)
12g.101770093G>ACA481577858GNPTABc.1212C>T (p.Tyr404=)
c.1131C>T (p.Tyr377=)
c.996C>T (p.Tyr332=)
c.-16C>T (n.-16C>T)
12g.101770093G>CCA386302580GNPTABc.1212C>G (p.Tyr404Ter)
c.1131C>G (p.Tyr377Ter)
c.996C>G (p.Tyr332Ter)
c.-16C>G (n.-16C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770093G=CA2058957864GNPTABc.1212C= (p.Tyr404=)
c.1131C= (p.Tyr377=)
c.996C= (p.Tyr332=)
c.-16C= (n.-16C=)
12g.101770093G>TCA386302582GNPTABc.1212C>A (p.Tyr404Ter)
c.1131C>A (p.Tyr377Ter)
c.996C>A (p.Tyr332Ter)
c.-16C>A (n.-16C>A)
12g.101770094T>ACA386302583GNPTABc.1211A>T (p.Tyr404Phe)
c.1130A>T (p.Tyr377Phe)
c.995A>T (p.Tyr332Phe)
c.-17A>T (n.-17A>T)
12g.101770094T>CCA386302585GNPTABc.1211A>G (p.Tyr404Cys)
c.1130A>G (p.Tyr377Cys)
c.995A>G (p.Tyr332Cys)
c.-17A>G (n.-17A>G)
12g.101770094T>GCA386302586GNPTABc.1211A>C (p.Tyr404Ser)
c.1130A>C (p.Tyr377Ser)
c.995A>C (p.Tyr332Ser)
c.-17A>C (n.-17A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770094T=CA2058957865GNPTABc.1211A= (p.Tyr404=)
c.1130A= (p.Tyr377=)
c.995A= (p.Tyr332=)
c.-17A= (n.-17A=)
12g.101770095A>CCA386302588GNPTABc.1210T>G (p.Tyr404Asp)
c.1129T>G (p.Tyr377Asp)
c.994T>G (p.Tyr332Asp)
c.-18T>G (n.-18T>G)
12g.101770095A>GCA386302589GNPTABc.1210T>C (p.Tyr404His)
c.1129T>C (p.Tyr377His)
c.994T>C (p.Tyr332His)
c.-18T>C (n.-18T>C)
12g.101770095A>TCA386302591GNPTABc.1210T>A (p.Tyr404Asn)
c.1129T>A (p.Tyr377Asn)
c.994T>A (p.Tyr332Asn)
c.-18T>A (n.-18T>A)
12g.101770096A=CA2058957866GNPTABc.1209T= (p.Ile403=)
c.1128T= (p.Ile376=)
c.993T= (p.Ile331=)
c.-19T= (n.-19T=)
12g.101770096A>CCA242462233GNPTABc.1209T>G (p.Ile403Met)
c.1128T>G (p.Ile376Met)
c.993T>G (p.Ile331Met)
c.-19T>G (n.-19T>G)
 ClinVar dbSNP
12g.101770096A>GCA481577859GNPTABc.1209T>C (p.Ile403=)
c.1128T>C (p.Ile376=)
c.993T>C (p.Ile331=)
c.-19T>C (n.-19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770096A>TCA481577860GNPTABc.1209T>A (p.Ile403=)
c.1128T>A (p.Ile376=)
c.993T>A (p.Ile331=)
c.-19T>A (n.-19T>A)
12g.101770097A=CA2058957867GNPTABc.1208T= (p.Ile403=)
c.1127T= (p.Ile376=)
c.992T= (p.Ile331=)
c.-20T= (n.-20T=)
12g.101770097A>CCA386302593GNPTABc.1208T>G (p.Ile403Ser)
c.1127T>G (p.Ile376Ser)
c.992T>G (p.Ile331Ser)
c.-20T>G (n.-20T>G)
12g.101770097A>GCA343340GNPTABc.1208T>C (p.Ile403Thr)
c.1127T>C (p.Ile376Thr)
c.992T>C (p.Ile331Thr)
c.-20T>C (n.-20T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770097A>TCA386302595GNPTABc.1208T>A (p.Ile403Asn)
c.1127T>A (p.Ile376Asn)
c.992T>A (p.Ile331Asn)
c.-20T>A (n.-20T>A)
12g.101770098T>ACA386302597GNPTABc.1207A>T (p.Ile403Phe)
c.1126A>T (p.Ile376Phe)
c.991A>T (p.Ile331Phe)
c.-21A>T (n.-21A>T)
12g.101770098T>CCA6746682GNPTABc.1207A>G (p.Ile403Val)
c.1126A>G (p.Ile376Val)
c.991A>G (p.Ile331Val)
c.-21A>G (n.-21A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.101770098T>GCA386302599GNPTABc.1207A>C (p.Ile403Leu)
c.1126A>C (p.Ile376Leu)
c.991A>C (p.Ile331Leu)
c.-21A>C (n.-21A>C)
12g.101770098T=CA2058957868GNPTABc.1207A= (p.Ile403=)
c.1126A= (p.Ile376=)
c.991A= (p.Ile331=)
c.-21A= (n.-21A=)
12g.101770099A>CCA386302601GNPTABc.1206T>G (p.Phe402Leu)
c.1125T>G (p.Phe375Leu)
c.990T>G (p.Phe330Leu)
c.-22T>G (n.-22T>G)
12g.101770099A>GCA481577861GNPTABc.1206T>C (p.Phe402=)
c.1125T>C (p.Phe375=)
c.990T>C (p.Phe330=)
c.-22T>C (n.-22T>C)
12g.101770099A>TCA386302603GNPTABc.1206T>A (p.Phe402Leu)
c.1125T>A (p.Phe375Leu)
c.990T>A (p.Phe330Leu)
c.-22T>A (n.-22T>A)
12g.101770101dupCA343339GNPTABc.1206dup (p.Ile403TyrfsTer5)
c.1125dup (p.Ile376TyrfsTer5)
c.990dup (p.Ile331TyrfsTer5)
c.-22dup (n.-22dup)
 ClinVar dbSNP
12g.101770100A>CCA386302605GNPTABc.1205T>G (p.Phe402Cys)
c.1124T>G (p.Phe375Cys)
c.989T>G (p.Phe330Cys)
c.-23T>G (n.-23T>G)
12g.101770100A>GCA386302606GNPTABc.1205T>C (p.Phe402Ser)
c.1124T>C (p.Phe375Ser)
c.989T>C (p.Phe330Ser)
c.-23T>C (n.-23T>C)
12g.101770100A>TCA386302607GNPTABc.1205T>A (p.Phe402Tyr)
c.1124T>A (p.Phe375Tyr)
c.989T>A (p.Phe330Tyr)
c.-23T>A (n.-23T>A)
12g.101770101A=CA2058957869GNPTABc.1204T= (p.Phe402=)
c.1123T= (p.Phe375=)
c.988T= (p.Phe330=)
c.-24T= (n.-24T=)
12g.101770101A>CCA386302611GNPTABc.1204T>G (p.Phe402Val)
c.1123T>G (p.Phe375Val)
c.988T>G (p.Phe330Val)
c.-24T>G (n.-24T>G)
12g.101770101A>GCA6746683GNPTABc.1204T>C (p.Phe402Leu)
c.1123T>C (p.Phe375Leu)
c.988T>C (p.Phe330Leu)
c.-24T>C (n.-24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770101A>TCA386302609GNPTABc.1204T>A (p.Phe402Ile)
c.1123T>A (p.Phe375Ile)
c.988T>A (p.Phe330Ile)
c.-24T>A (n.-24T>A)
12g.101770102C>ACA386302613GNPTABc.1203G>T (p.Lys401Asn)
c.1122G>T (p.Lys374Asn)
c.987G>T (p.Lys329Asn)
c.-25G>T (n.-25G>T)
12g.101770102C>GCA386302615GNPTABc.1203G>C (p.Lys401Asn)
c.1122G>C (p.Lys374Asn)
c.987G>C (p.Lys329Asn)
c.-25G>C (n.-25G>C)
 gnomAD v4
12g.101770102C>TCA481577862GNPTABc.1203G>A (p.Lys401=)
c.1122G>A (p.Lys374=)
c.987G>A (p.Lys329=)
c.-25G>A (n.-25G>A)
12g.101770103T>ACA386302617GNPTABc.1202A>T (p.Lys401Met)
c.1121A>T (p.Lys374Met)
c.986A>T (p.Lys329Met)
c.-26A>T (n.-26A>T)
12g.101770103T>CCA386302619GNPTABc.1202A>G (p.Lys401Arg)
c.1121A>G (p.Lys374Arg)
c.986A>G (p.Lys329Arg)
c.-26A>G (n.-26A>G)
 gnomAD v4
12g.101770103T>GCA386302620GNPTABc.1202A>C (p.Lys401Thr)
c.1121A>C (p.Lys374Thr)
c.986A>C (p.Lys329Thr)
c.-26A>C (n.-26A>C)
12g.101770104T>ACA386302622GNPTABc.1201A>T (p.Lys401Ter)
c.1120A>T (p.Lys374Ter)
c.985A>T (p.Lys329Ter)
c.-27A>T (n.-27A>T)
12g.101770104T>CCA386302623GNPTABc.1201A>G (p.Lys401Glu)
c.1120A>G (p.Lys374Glu)
c.985A>G (p.Lys329Glu)
c.-27A>G (n.-27A>G)
12g.101770104T>GCA386302625GNPTABc.1201A>C (p.Lys401Gln)
c.1120A>C (p.Lys374Gln)
c.985A>C (p.Lys329Gln)
c.-27A>C (n.-27A>C)
12g.101770105C>ACA386302626GNPTABc.1200G>T (p.Gln400His)
c.1119G>T (p.Gln373His)
c.984G>T (p.Gln328His)
c.-28G>T (n.-28G>T)
 gnomAD v4
12g.101770105C>GCA386302628GNPTABc.1200G>C (p.Gln400His)
c.1119G>C (p.Gln373His)
c.984G>C (p.Gln328His)
c.-28G>C (n.-28G>C)
12g.101770105C>TCA481577863GNPTABc.1200G>A (p.Gln400=)
c.1119G>A (p.Gln373=)
c.984G>A (p.Gln328=)
c.-28G>A (n.-28G>A)
12g.101770106T>ACA386302630GNPTABc.1199A>T (p.Gln400Leu)
c.1118A>T (p.Gln373Leu)
c.983A>T (p.Gln328Leu)
c.-29A>T (n.-29A>T)
12g.101770106T>CCA386302631GNPTABc.1199A>G (p.Gln400Arg)
c.1118A>G (p.Gln373Arg)
c.983A>G (p.Gln328Arg)
c.-29A>G (n.-29A>G)
12g.101770106T>GCA386302633GNPTABc.1199A>C (p.Gln400Pro)
c.1118A>C (p.Gln373Pro)
c.983A>C (p.Gln328Pro)
c.-29A>C (n.-29A>C)
 gnomAD v4
12g.101770107G>ACA386302637GNPTABc.1198C>T (p.Gln400Ter)
c.1117C>T (p.Gln373Ter)
c.982C>T (p.Gln328Ter)
c.-30C>T (n.-30C>T)
 gnomAD v4
12g.101770107G>CCA386302636GNPTABc.1198C>G (p.Gln400Glu)
c.1117C>G (p.Gln373Glu)
c.982C>G (p.Gln328Glu)
c.-30C>G (n.-30C>G)
12g.101770107G>TCA386302634GNPTABc.1198C>A (p.Gln400Lys)
c.1117C>A (p.Gln373Lys)
c.982C>A (p.Gln328Lys)
c.-30C>A (n.-30C>A)
12g.101770108G>ACA481577864GNPTABc.1197C>T (p.Ser399=)
c.1116C>T (p.Ser372=)
c.981C>T (p.Ser327=)
c.-31C>T (n.-31C>T)
12g.101770108G>CCA481577865GNPTABc.1197C>G (p.Ser399=)
c.1116C>G (p.Ser372=)
c.981C>G (p.Ser327=)
c.-31C>G (n.-31C>G)
12g.101770108G>TCA481577866GNPTABc.1197C>A (p.Ser399=)
c.1116C>A (p.Ser372=)
c.981C>A (p.Ser327=)
c.-31C>A (n.-31C>A)
 gnomAD v4
12g.101770109G>ACA343061GNPTABc.1196C>T (p.Ser399Phe)
c.1115C>T (p.Ser372Phe)
c.980C>T (p.Ser327Phe)
c.-32C>T (n.-32C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770109G>CCA386302639GNPTABc.1196C>G (p.Ser399Cys)
c.1115C>G (p.Ser372Cys)
c.980C>G (p.Ser327Cys)
c.-32C>G (n.-32C>G)
12g.101770109G=CA2058957870GNPTABc.1196C= (p.Ser399=)
c.1115C= (p.Ser372=)
c.980C= (p.Ser327=)
c.-32C= (n.-32C=)
12g.101770109G>TCA386302641GNPTABc.1196C>A (p.Ser399Tyr)
c.1115C>A (p.Ser372Tyr)
c.980C>A (p.Ser327Tyr)
c.-32C>A (n.-32C>A)
12g.101770110A=CA2058957871GNPTABc.1195T= (p.Ser399=)
c.1114T= (p.Ser372=)
c.979T= (p.Ser327=)
c.-33T= (n.-33T=)
12g.101770110A>CCA386302642GNPTABc.1195T>G (p.Ser399Ala)
c.1114T>G (p.Ser372Ala)
c.979T>G (p.Ser327Ala)
c.-33T>G (n.-33T>G)
12g.101770110A>GCA6746684GNPTABc.1195T>C (p.Ser399Pro)
c.1114T>C (p.Ser372Pro)
c.979T>C (p.Ser327Pro)
c.-33T>C (n.-33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770110A>TCA386302645GNPTABc.1195T>A (p.Ser399Thr)
c.1114T>A (p.Ser372Thr)
c.979T>A (p.Ser327Thr)
c.-33T>A (n.-33T>A)
12g.101770111C>ACA481577867GNPTABc.1194G>T (p.Leu398=)
c.1113G>T (p.Leu371=)
c.978G>T (p.Leu326=)
c.-34G>T (n.-34G>T)
 gnomAD v4
12g.101770111C>GCA481577868GNPTABc.1194G>C (p.Leu398=)
c.1113G>C (p.Leu371=)
c.978G>C (p.Leu326=)
c.-34G>C (n.-34G>C)
12g.101770111C>TCA481577869GNPTABc.1194G>A (p.Leu398=)
c.1113G>A (p.Leu371=)
c.978G>A (p.Leu326=)
c.-34G>A (n.-34G>A)
12g.101770112_101770115dupCA343338GNPTABc.1191_1194dup (p.Ser399AlafsTer10)
c.1110_1113dup (p.Ser372AlafsTer10)
c.975_978dup (p.Ser327AlafsTer10)
c.-37_-34dup (n.-37_-34dup)
 ClinVar dbSNP gnomAD v4
12g.101770112A=CA2058957872GNPTABc.1193T= (p.Leu398=)
c.1112T= (p.Leu371=)
c.977T= (p.Leu326=)
c.-35T= (n.-35T=)
12g.101770112A>CCA386302648GNPTABc.1193T>G (p.Leu398Arg)
c.1112T>G (p.Leu371Arg)
c.977T>G (p.Leu326Arg)
c.-35T>G (n.-35T>G)
12g.101770112A>GCA386302650GNPTABc.1193T>C (p.Leu398Pro)
c.1112T>C (p.Leu371Pro)
c.977T>C (p.Leu326Pro)
c.-35T>C (n.-35T>C)
12g.101770112A>TCA386302651GNPTABc.1193T>A (p.Leu398Gln)
c.1112T>A (p.Leu371Gln)
c.977T>A (p.Leu326Gln)
c.-35T>A (n.-35T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.101770113G>ACA6746685GNPTABc.1192C>T (p.Leu398=)
c.1111C>T (p.Leu371=)
c.976C>T (p.Leu326=)
c.-36C>T (n.-36C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770113G>CCA386302653GNPTABc.1192C>G (p.Leu398Val)
c.1111C>G (p.Leu371Val)
c.976C>G (p.Leu326Val)
c.-36C>G (n.-36C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101770113G=CA2058957873GNPTABc.1192C= (p.Leu398=)
c.1111C= (p.Leu371=)
c.976C= (p.Leu326=)
c.-36C= (n.-36C=)
12g.101770113G>TCA386302654GNPTABc.1192C>A (p.Leu398Met)
c.1111C>A (p.Leu371Met)
c.976C>A (p.Leu326Met)
c.-36C>A (n.-36C>A)
12g.101770113_101770114delinsGCCA2058957874GNPTABc.1191_1192delinsGC (p.Gly397=)
c.1110_1111delinsGC (p.Gly370=)
c.975_976delinsGC (p.Gly325=)
c.-37_-36delinsGC (n.-37_-36delinsGC)
12g.101770114C>ACA481577870GNPTABc.1191G>T (p.Gly397=)
c.1110G>T (p.Gly370=)
c.975G>T (p.Gly325=)
c.-37G>T (n.-37G>T)
12g.101770114C>GCA481577871GNPTABc.1191G>C (p.Gly397=)
c.1110G>C (p.Gly370=)
c.975G>C (p.Gly325=)
c.-37G>C (n.-37G>C)
12g.101770114C>TCA481577872GNPTABc.1191G>A (p.Gly397=)
c.1110G>A (p.Gly370=)
c.975G>A (p.Gly325=)
c.-37G>A (n.-37G>A)
 ClinVar
12g.101770116delCA607597855GNPTABc.1191del (p.Leu398CysfsTer8)
c.1110del (p.Leu371CysfsTer8)
c.975del (p.Leu326CysfsTer8)
c.-37del (n.-37del)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched