Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428551A= | CA1286884522 | PROC | c.991A= (p.Asn331=) c.315A= c.1093A= (p.Asn365=) c.1174A= (p.Asn392=) c.1156A= (p.Asn386=) c.1054A= (p.Asn352=) n.1332-287T= c.1234A= (p.Asn412=) c.1336A= (p.Asn446=) c.1276A= (p.Asn426=) n.3607-287T= n.4043-287T= c.1159A= (p.Asn387=) c.1177A= (p.Asn393=) c.934A= (p.Asn312=) c.967A= (p.Asn323=) c.985A= (p.Asn329=) | |
2 | g.127428551A>C | CA348405278 | PROC | c.991A>C (p.Asn331His) c.315A>C c.1093A>C (p.Asn365His) c.1174A>C (p.Asn392His) c.1156A>C (p.Asn386His) c.1054A>C (p.Asn352His) n.1332-287T>G c.1234A>C (p.Asn412His) c.1336A>C (p.Asn446His) c.1276A>C (p.Asn426His) n.3607-287T>G n.4043-287T>G c.1159A>C (p.Asn387His) c.1177A>C (p.Asn393His) c.934A>C (p.Asn312His) c.967A>C (p.Asn323His) c.985A>C (p.Asn329His) | dbSNP gnomAD v4 |
2 | g.127428551A>G | CA348405276 | PROC | c.991A>G (p.Asn331Asp) c.315A>G c.1093A>G (p.Asn365Asp) c.1174A>G (p.Asn392Asp) c.1156A>G (p.Asn386Asp) c.1054A>G (p.Asn352Asp) n.1332-287T>C c.1234A>G (p.Asn412Asp) c.1336A>G (p.Asn446Asp) c.1276A>G (p.Asn426Asp) n.3607-287T>C n.4043-287T>C c.1159A>G (p.Asn387Asp) c.1177A>G (p.Asn393Asp) c.934A>G (p.Asn312Asp) c.967A>G (p.Asn323Asp) c.985A>G (p.Asn329Asp) | |
2 | g.127428551A>T | CA348405277 | PROC | c.991A>T (p.Asn331Tyr) c.315A>T c.1093A>T (p.Asn365Tyr) c.1174A>T (p.Asn392Tyr) c.1156A>T (p.Asn386Tyr) c.1054A>T (p.Asn352Tyr) n.1332-287T>A c.1234A>T (p.Asn412Tyr) c.1336A>T (p.Asn446Tyr) c.1276A>T (p.Asn426Tyr) n.3607-287T>A n.4043-287T>A c.1159A>T (p.Asn387Tyr) c.1177A>T (p.Asn393Tyr) c.934A>T (p.Asn312Tyr) c.967A>T (p.Asn323Tyr) c.985A>T (p.Asn329Tyr) | dbSNP |
2 | g.127428552A= | CA1286884523 | PROC | c.992A= (p.Asn331=) c.316A= c.1094A= (p.Asn365=) c.1175A= (p.Asn392=) c.1157A= (p.Asn386=) c.1055A= (p.Asn352=) n.1332-288T= c.1235A= (p.Asn412=) c.1337A= (p.Asn446=) c.1277A= (p.Asn426=) n.3607-288T= n.4043-288T= c.1160A= (p.Asn387=) c.1178A= (p.Asn393=) c.935A= (p.Asn312=) c.968A= (p.Asn323=) c.986A= (p.Asn329=) | |
2 | g.127428552A>C | CA348405279 | PROC | c.992A>C (p.Asn331Thr) c.316A>C c.1094A>C (p.Asn365Thr) c.1175A>C (p.Asn392Thr) c.1157A>C (p.Asn386Thr) c.1055A>C (p.Asn352Thr) n.1332-288T>G c.1235A>C (p.Asn412Thr) c.1337A>C (p.Asn446Thr) c.1277A>C (p.Asn426Thr) n.3607-288T>G n.4043-288T>G c.1160A>C (p.Asn387Thr) c.1178A>C (p.Asn393Thr) c.935A>C (p.Asn312Thr) c.968A>C (p.Asn323Thr) c.986A>C (p.Asn329Thr) | |
2 | g.127428552A>G | CA1859500 | PROC | c.992A>G (p.Asn331Ser) c.316A>G c.1094A>G (p.Asn365Ser) c.1175A>G (p.Asn392Ser) c.1157A>G (p.Asn386Ser) c.1055A>G (p.Asn352Ser) n.1332-288T>C c.1235A>G (p.Asn412Ser) c.1337A>G (p.Asn446Ser) c.1277A>G (p.Asn426Ser) n.3607-288T>C n.4043-288T>C c.1160A>G (p.Asn387Ser) c.1178A>G (p.Asn393Ser) c.935A>G (p.Asn312Ser) c.968A>G (p.Asn323Ser) c.986A>G (p.Asn329Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428552A>T | CA348405282 | PROC | c.992A>T (p.Asn331Ile) c.316A>T c.1094A>T (p.Asn365Ile) c.1175A>T (p.Asn392Ile) c.1157A>T (p.Asn386Ile) c.1055A>T (p.Asn352Ile) n.1332-288T>A c.1235A>T (p.Asn412Ile) c.1337A>T (p.Asn446Ile) c.1277A>T (p.Asn426Ile) n.3607-288T>A n.4043-288T>A c.1160A>T (p.Asn387Ile) c.1178A>T (p.Asn393Ile) c.935A>T (p.Asn312Ile) c.968A>T (p.Asn323Ile) c.986A>T (p.Asn329Ile) | |
2 | g.127428553T>A | CA348405283 | PROC | c.993T>A (p.Asn331Lys) c.317T>A c.1095T>A (p.Asn365Lys) c.1176T>A (p.Asn392Lys) c.1158T>A (p.Asn386Lys) c.1056T>A (p.Asn352Lys) n.1332-289A>T c.1236T>A (p.Asn412Lys) c.1338T>A (p.Asn446Lys) c.1278T>A (p.Asn426Lys) n.3607-289A>T n.4043-289A>T c.1161T>A (p.Asn387Lys) c.1179T>A (p.Asn393Lys) c.936T>A (p.Asn312Lys) c.969T>A (p.Asn323Lys) c.987T>A (p.Asn329Lys) | |
2 | g.127428553T>C | CA428871821 | PROC | c.993T>C (p.Asn331=) c.317T>C c.1095T>C (p.Asn365=) c.1176T>C (p.Asn392=) c.1158T>C (p.Asn386=) c.1056T>C (p.Asn352=) n.1332-289A>G c.1236T>C (p.Asn412=) c.1338T>C (p.Asn446=) c.1278T>C (p.Asn426=) n.3607-289A>G n.4043-289A>G c.1161T>C (p.Asn387=) c.1179T>C (p.Asn393=) c.936T>C (p.Asn312=) c.969T>C (p.Asn323=) c.987T>C (p.Asn329=) | |
2 | g.127428553T>G | CA348405286 | PROC | c.993T>G (p.Asn331Lys) c.317T>G c.1095T>G (p.Asn365Lys) c.1176T>G (p.Asn392Lys) c.1158T>G (p.Asn386Lys) c.1056T>G (p.Asn352Lys) n.1332-289A>C c.1236T>G (p.Asn412Lys) c.1338T>G (p.Asn446Lys) c.1278T>G (p.Asn426Lys) n.3607-289A>C n.4043-289A>C c.1161T>G (p.Asn387Lys) c.1179T>G (p.Asn393Lys) c.936T>G (p.Asn312Lys) c.969T>G (p.Asn323Lys) c.987T>G (p.Asn329Lys) | |
2 | g.127428554C>A | CA348405290 | PROC | c.994C>A (p.Gln332Lys) c.318C>A c.1096C>A (p.Gln366Lys) c.1177C>A (p.Gln393Lys) c.1159C>A (p.Gln387Lys) c.1057C>A (p.Gln353Lys) n.1332-290G>T c.1237C>A (p.Gln413Lys) c.1339C>A (p.Gln447Lys) c.1279C>A (p.Gln427Lys) n.3607-290G>T n.4043-290G>T c.1162C>A (p.Gln388Lys) c.1180C>A (p.Gln394Lys) c.937C>A (p.Gln313Lys) c.970C>A (p.Gln324Lys) c.988C>A (p.Gln330Lys) | |
2 | g.127428554C= | CA1286884524 | PROC | c.994C= (p.Gln332=) c.318C= c.1096C= (p.Gln366=) c.1177C= (p.Gln393=) c.1159C= (p.Gln387=) c.1057C= (p.Gln353=) n.1332-290G= c.1237C= (p.Gln413=) c.1339C= (p.Gln447=) c.1279C= (p.Gln427=) n.3607-290G= n.4043-290G= c.1162C= (p.Gln388=) c.1180C= (p.Gln394=) c.937C= (p.Gln313=) c.970C= (p.Gln324=) c.988C= (p.Gln330=) | |
2 | g.127428554C>G | CA1859501 | PROC | c.994C>G (p.Gln332Glu) c.318C>G c.1096C>G (p.Gln366Glu) c.1177C>G (p.Gln393Glu) c.1159C>G (p.Gln387Glu) c.1057C>G (p.Gln353Glu) n.1332-290G>C c.1237C>G (p.Gln413Glu) c.1339C>G (p.Gln447Glu) c.1279C>G (p.Gln427Glu) n.3607-290G>C n.4043-290G>C c.1162C>G (p.Gln388Glu) c.1180C>G (p.Gln394Glu) c.937C>G (p.Gln313Glu) c.970C>G (p.Gln324Glu) c.988C>G (p.Gln330Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428554C>T | CA348405294 | PROC | c.994C>T (p.Gln332Ter) c.318C>T c.1096C>T (p.Gln366Ter) c.1177C>T (p.Gln393Ter) c.1159C>T (p.Gln387Ter) c.1057C>T (p.Gln353Ter) n.1332-290G>A c.1237C>T (p.Gln413Ter) c.1339C>T (p.Gln447Ter) c.1279C>T (p.Gln427Ter) n.3607-290G>A n.4043-290G>A c.1162C>T (p.Gln388Ter) c.1180C>T (p.Gln394Ter) c.937C>T (p.Gln313Ter) c.970C>T (p.Gln324Ter) c.988C>T (p.Gln330Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428555A>C | CA348405297 | PROC | c.995A>C (p.Gln332Pro) c.319A>C c.1097A>C (p.Gln366Pro) c.1178A>C (p.Gln393Pro) c.1160A>C (p.Gln387Pro) c.1058A>C (p.Gln353Pro) n.1332-291T>G c.1238A>C (p.Gln413Pro) c.1340A>C (p.Gln447Pro) c.1280A>C (p.Gln427Pro) n.3607-291T>G n.4043-291T>G c.1163A>C (p.Gln388Pro) c.1181A>C (p.Gln394Pro) c.938A>C (p.Gln313Pro) c.971A>C (p.Gln324Pro) c.989A>C (p.Gln330Pro) | |
2 | g.127428555A>G | CA348405299 | PROC | c.995A>G (p.Gln332Arg) c.319A>G c.1097A>G (p.Gln366Arg) c.1178A>G (p.Gln393Arg) c.1160A>G (p.Gln387Arg) c.1058A>G (p.Gln353Arg) n.1332-291T>C c.1238A>G (p.Gln413Arg) c.1340A>G (p.Gln447Arg) c.1280A>G (p.Gln427Arg) n.3607-291T>C n.4043-291T>C c.1163A>G (p.Gln388Arg) c.1181A>G (p.Gln394Arg) c.938A>G (p.Gln313Arg) c.971A>G (p.Gln324Arg) c.989A>G (p.Gln330Arg) | |
2 | g.127428555A>T | CA348405301 | PROC | c.995A>T (p.Gln332Leu) c.319A>T c.1097A>T (p.Gln366Leu) c.1178A>T (p.Gln393Leu) c.1160A>T (p.Gln387Leu) c.1058A>T (p.Gln353Leu) n.1332-291T>A c.1238A>T (p.Gln413Leu) c.1340A>T (p.Gln447Leu) c.1280A>T (p.Gln427Leu) n.3607-291T>A n.4043-291T>A c.1163A>T (p.Gln388Leu) c.1181A>T (p.Gln394Leu) c.938A>T (p.Gln313Leu) c.971A>T (p.Gln324Leu) c.989A>T (p.Gln330Leu) | |
2 | g.127428556G>A | CA428871833 | PROC | c.996G>A (p.Gln332=) c.320G>A c.1098G>A (p.Gln366=) c.1179G>A (p.Gln393=) c.1161G>A (p.Gln387=) c.1059G>A (p.Gln353=) n.1332-292C>T c.1239G>A (p.Gln413=) c.1341G>A (p.Gln447=) c.1281G>A (p.Gln427=) n.3607-292C>T n.4043-292C>T c.1164G>A (p.Gln388=) c.1182G>A (p.Gln394=) c.939G>A (p.Gln313=) c.972G>A (p.Gln324=) c.990G>A (p.Gln330=) | gnomAD v4 |
2 | g.127428556G>C | CA348405307 | PROC | c.996G>C (p.Gln332His) c.320G>C c.1098G>C (p.Gln366His) c.1179G>C (p.Gln393His) c.1161G>C (p.Gln387His) c.1059G>C (p.Gln353His) n.1332-292C>G c.1239G>C (p.Gln413His) c.1341G>C (p.Gln447His) c.1281G>C (p.Gln427His) n.3607-292C>G n.4043-292C>G c.1164G>C (p.Gln388His) c.1182G>C (p.Gln394His) c.939G>C (p.Gln313His) c.972G>C (p.Gln324His) c.990G>C (p.Gln330His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428556G= | CA1286884525 | PROC | c.996G= (p.Gln332=) c.320G= c.1098G= (p.Gln366=) c.1179G= (p.Gln393=) c.1161G= (p.Gln387=) c.1059G= (p.Gln353=) n.1332-292C= c.1239G= (p.Gln413=) c.1341G= (p.Gln447=) c.1281G= (p.Gln427=) n.3607-292C= n.4043-292C= c.1164G= (p.Gln388=) c.1182G= (p.Gln394=) c.939G= (p.Gln313=) c.972G= (p.Gln324=) c.990G= (p.Gln330=) | |
2 | g.127428556G>T | CA348405305 | PROC | c.996G>T (p.Gln332His) c.320G>T c.1098G>T (p.Gln366His) c.1179G>T (p.Gln393His) c.1161G>T (p.Gln387His) c.1059G>T (p.Gln353His) n.1332-292C>A c.1239G>T (p.Gln413His) c.1341G>T (p.Gln447His) c.1281G>T (p.Gln427His) n.3607-292C>A n.4043-292C>A c.1164G>T (p.Gln388His) c.1182G>T (p.Gln394His) c.939G>T (p.Gln313His) c.972G>T (p.Gln324His) c.990G>T (p.Gln330His) | |
2 | g.127428557G>A | CA348405312 | PROC | c.997G>A (p.Ala333Thr) c.321G>A c.1099G>A (p.Ala367Thr) c.1180G>A (p.Ala394Thr) c.1162G>A (p.Ala388Thr) c.1060G>A (p.Ala354Thr) n.1332-293C>T c.1240G>A (p.Ala414Thr) c.1342G>A (p.Ala448Thr) c.1282G>A (p.Ala428Thr) n.3607-293C>T n.4043-293C>T c.1165G>A (p.Ala389Thr) c.1183G>A (p.Ala395Thr) c.940G>A (p.Ala314Thr) c.973G>A (p.Ala325Thr) c.991G>A (p.Ala331Thr) | ClinVar |
2 | g.127428557G>C | CA348405314 | PROC | c.997G>C (p.Ala333Pro) c.321G>C c.1099G>C (p.Ala367Pro) c.1180G>C (p.Ala394Pro) c.1162G>C (p.Ala388Pro) c.1060G>C (p.Ala354Pro) n.1332-293C>G c.1240G>C (p.Ala414Pro) c.1342G>C (p.Ala448Pro) c.1282G>C (p.Ala428Pro) n.3607-293C>G n.4043-293C>G c.1165G>C (p.Ala389Pro) c.1183G>C (p.Ala395Pro) c.940G>C (p.Ala314Pro) c.973G>C (p.Ala325Pro) c.991G>C (p.Ala331Pro) | |
2 | g.127428557G>T | CA348405316 | PROC | c.997G>T (p.Ala333Ser) c.321G>T c.1099G>T (p.Ala367Ser) c.1180G>T (p.Ala394Ser) c.1162G>T (p.Ala388Ser) c.1060G>T (p.Ala354Ser) n.1332-293C>A c.1240G>T (p.Ala414Ser) c.1342G>T (p.Ala448Ser) c.1282G>T (p.Ala428Ser) n.3607-293C>A n.4043-293C>A c.1165G>T (p.Ala389Ser) c.1183G>T (p.Ala395Ser) c.940G>T (p.Ala314Ser) c.973G>T (p.Ala325Ser) c.991G>T (p.Ala331Ser) | |
2 | g.127428558C>A | CA348405319 | PROC | c.998C>A (p.Ala333Asp) c.322C>A c.1100C>A (p.Ala367Asp) c.1181C>A (p.Ala394Asp) c.1163C>A (p.Ala388Asp) c.1061C>A (p.Ala354Asp) n.1332-294G>T c.1241C>A (p.Ala414Asp) c.1343C>A (p.Ala448Asp) c.1283C>A (p.Ala428Asp) n.3607-294G>T n.4043-294G>T c.1166C>A (p.Ala389Asp) c.1184C>A (p.Ala395Asp) c.941C>A (p.Ala314Asp) c.974C>A (p.Ala325Asp) c.992C>A (p.Ala331Asp) | |
2 | g.127428558C>G | CA348405322 | PROC | c.998C>G (p.Ala333Gly) c.322C>G c.1100C>G (p.Ala367Gly) c.1181C>G (p.Ala394Gly) c.1163C>G (p.Ala388Gly) c.1061C>G (p.Ala354Gly) n.1332-294G>C c.1241C>G (p.Ala414Gly) c.1343C>G (p.Ala448Gly) c.1283C>G (p.Ala428Gly) n.3607-294G>C n.4043-294G>C c.1166C>G (p.Ala389Gly) c.1184C>G (p.Ala395Gly) c.941C>G (p.Ala314Gly) c.974C>G (p.Ala325Gly) c.992C>G (p.Ala331Gly) | |
2 | g.127428558C>T | CA348405325 | PROC | c.998C>T (p.Ala333Val) c.322C>T c.1100C>T (p.Ala367Val) c.1181C>T (p.Ala394Val) c.1163C>T (p.Ala388Val) c.1061C>T (p.Ala354Val) n.1332-294G>A c.1241C>T (p.Ala414Val) c.1343C>T (p.Ala448Val) c.1283C>T (p.Ala428Val) n.3607-294G>A n.4043-294G>A c.1166C>T (p.Ala389Val) c.1184C>T (p.Ala395Val) c.941C>T (p.Ala314Val) c.974C>T (p.Ala325Val) c.992C>T (p.Ala331Val) | gnomAD v4 |
2 | g.127428559C>A | CA428871847 | PROC | c.999C>A (p.Ala333=) c.323C>A c.1101C>A (p.Ala367=) c.1182C>A (p.Ala394=) c.1164C>A (p.Ala388=) c.1062C>A (p.Ala354=) n.1332-295G>T c.1242C>A (p.Ala414=) c.1344C>A (p.Ala448=) c.1284C>A (p.Ala428=) n.3607-295G>T n.4043-295G>T c.1167C>A (p.Ala389=) c.1185C>A (p.Ala395=) c.942C>A (p.Ala314=) c.975C>A (p.Ala325=) c.993C>A (p.Ala331=) | |
2 | g.127428559C= | CA1286884526 | PROC | c.999C= (p.Ala333=) c.323C= c.1101C= (p.Ala367=) c.1182C= (p.Ala394=) c.1164C= (p.Ala388=) c.1062C= (p.Ala354=) n.1332-295G= c.1242C= (p.Ala414=) c.1344C= (p.Ala448=) c.1284C= (p.Ala428=) n.3607-295G= n.4043-295G= c.1167C= (p.Ala389=) c.1185C= (p.Ala395=) c.942C= (p.Ala314=) c.975C= (p.Ala325=) c.993C= (p.Ala331=) | |
2 | g.127428559C>G | CA428871849 | PROC | c.999C>G (p.Ala333=) c.323C>G c.1101C>G (p.Ala367=) c.1182C>G (p.Ala394=) c.1164C>G (p.Ala388=) c.1062C>G (p.Ala354=) n.1332-295G>C c.1242C>G (p.Ala414=) c.1344C>G (p.Ala448=) c.1284C>G (p.Ala428=) n.3607-295G>C n.4043-295G>C c.1167C>G (p.Ala389=) c.1185C>G (p.Ala395=) c.942C>G (p.Ala314=) c.975C>G (p.Ala325=) c.993C>G (p.Ala331=) | |
2 | g.127428559C>T | CA1859502 | PROC | c.999C>T (p.Ala333=) c.323C>T c.1101C>T (p.Ala367=) c.1182C>T (p.Ala394=) c.1164C>T (p.Ala388=) c.1062C>T (p.Ala354=) n.1332-295G>A c.1242C>T (p.Ala414=) c.1344C>T (p.Ala448=) c.1284C>T (p.Ala428=) n.3607-295G>A n.4043-295G>A c.1167C>T (p.Ala389=) c.1185C>T (p.Ala395=) c.942C>T (p.Ala314=) c.975C>T (p.Ala325=) c.993C>T (p.Ala331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428560G>A | CA114406 | PROC | c.1000G>A (p.Gly334Ser) c.324G>A c.1102G>A (p.Gly368Ser) c.1183G>A (p.Gly395Ser) c.1165G>A (p.Gly389Ser) c.1063G>A (p.Gly355Ser) n.1332-296C>T c.1243G>A (p.Gly415Ser) c.1345G>A (p.Gly449Ser) c.1285G>A (p.Gly429Ser) n.3607-296C>T n.4043-296C>T c.1168G>A (p.Gly390Ser) c.1186G>A (p.Gly396Ser) c.943G>A (p.Gly315Ser) c.976G>A (p.Gly326Ser) c.994G>A (p.Gly332Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428560G>C | CA348405332 | PROC | c.1000G>C (p.Gly334Arg) c.324G>C c.1102G>C (p.Gly368Arg) c.1183G>C (p.Gly395Arg) c.1165G>C (p.Gly389Arg) c.1063G>C (p.Gly355Arg) n.1332-296C>G c.1243G>C (p.Gly415Arg) c.1345G>C (p.Gly449Arg) c.1285G>C (p.Gly429Arg) n.3607-296C>G n.4043-296C>G c.1168G>C (p.Gly390Arg) c.1186G>C (p.Gly396Arg) c.943G>C (p.Gly315Arg) c.976G>C (p.Gly326Arg) c.994G>C (p.Gly332Arg) | dbSNP |
2 | g.127428560G= | CA1286884527 | PROC | c.1000G= (p.Gly334=) c.324G= c.1102G= (p.Gly368=) c.1183G= (p.Gly395=) c.1165G= (p.Gly389=) c.1063G= (p.Gly355=) n.1332-296C= c.1243G= (p.Gly415=) c.1345G= (p.Gly449=) c.1285G= (p.Gly429=) n.3607-296C= n.4043-296C= c.1168G= (p.Gly390=) c.1186G= (p.Gly396=) c.943G= (p.Gly315=) c.976G= (p.Gly326=) c.994G= (p.Gly332=) | |
2 | g.127428560G>T | CA348405334 | PROC | c.1000G>T (p.Gly334Cys) c.324G>T c.1102G>T (p.Gly368Cys) c.1183G>T (p.Gly395Cys) c.1165G>T (p.Gly389Cys) c.1063G>T (p.Gly355Cys) n.1332-296C>A c.1243G>T (p.Gly415Cys) c.1345G>T (p.Gly449Cys) c.1285G>T (p.Gly429Cys) n.3607-296C>A n.4043-296C>A c.1168G>T (p.Gly390Cys) c.1186G>T (p.Gly396Cys) c.943G>T (p.Gly315Cys) c.976G>T (p.Gly326Cys) c.994G>T (p.Gly332Cys) | ClinVar dbSNP gnomAD v2 |
2 | g.127428561G>A | CA348405344 | PROC | c.1001G>A (p.Gly334Asp) c.325G>A c.1103G>A (p.Gly368Asp) c.1184G>A (p.Gly395Asp) c.1166G>A (p.Gly389Asp) c.1064G>A (p.Gly355Asp) n.1332-297C>T c.1244G>A (p.Gly415Asp) c.1346G>A (p.Gly449Asp) c.1286G>A (p.Gly429Asp) n.3607-297C>T n.4043-297C>T c.1169G>A (p.Gly390Asp) c.1187G>A (p.Gly396Asp) c.944G>A (p.Gly315Asp) c.977G>A (p.Gly326Asp) c.995G>A (p.Gly332Asp) | |
2 | g.127428561G>C | CA348405351 | PROC | c.1001G>C (p.Gly334Ala) c.325G>C c.1103G>C (p.Gly368Ala) c.1184G>C (p.Gly395Ala) c.1166G>C (p.Gly389Ala) c.1064G>C (p.Gly355Ala) n.1332-297C>G c.1244G>C (p.Gly415Ala) c.1346G>C (p.Gly449Ala) c.1286G>C (p.Gly429Ala) n.3607-297C>G n.4043-297C>G c.1169G>C (p.Gly390Ala) c.1187G>C (p.Gly396Ala) c.944G>C (p.Gly315Ala) c.977G>C (p.Gly326Ala) c.995G>C (p.Gly332Ala) | |
2 | g.127428561G>T | CA348405352 | PROC | c.1001G>T (p.Gly334Val) c.325G>T c.1103G>T (p.Gly368Val) c.1184G>T (p.Gly395Val) c.1166G>T (p.Gly389Val) c.1064G>T (p.Gly355Val) n.1332-297C>A c.1244G>T (p.Gly415Val) c.1346G>T (p.Gly449Val) c.1286G>T (p.Gly429Val) n.3607-297C>A n.4043-297C>A c.1169G>T (p.Gly390Val) c.1187G>T (p.Gly396Val) c.944G>T (p.Gly315Val) c.977G>T (p.Gly326Val) c.995G>T (p.Gly332Val) | |
2 | g.127428562C>A | CA428871861 | PROC | c.1002C>A (p.Gly334=) c.326C>A c.1104C>A (p.Gly368=) c.1185C>A (p.Gly395=) c.1167C>A (p.Gly389=) c.1065C>A (p.Gly355=) n.1332-298G>T c.1245C>A (p.Gly415=) c.1347C>A (p.Gly449=) c.1287C>A (p.Gly429=) n.3607-298G>T n.4043-298G>T c.1170C>A (p.Gly390=) c.1188C>A (p.Gly396=) c.945C>A (p.Gly315=) c.978C>A (p.Gly326=) c.996C>A (p.Gly332=) | gnomAD v4 COSMIC COSMIC |
2 | g.127428562C>G | CA428871863 | PROC | c.1002C>G (p.Gly334=) c.326C>G c.1104C>G (p.Gly368=) c.1185C>G (p.Gly395=) c.1167C>G (p.Gly389=) c.1065C>G (p.Gly355=) n.1332-298G>C c.1245C>G (p.Gly415=) c.1347C>G (p.Gly449=) c.1287C>G (p.Gly429=) n.3607-298G>C n.4043-298G>C c.1170C>G (p.Gly390=) c.1188C>G (p.Gly396=) c.945C>G (p.Gly315=) c.978C>G (p.Gly326=) c.996C>G (p.Gly332=) | gnomAD v4 |
2 | g.127428562C>T | CA428871866 | PROC | c.1002C>T (p.Gly334=) c.326C>T c.1104C>T (p.Gly368=) c.1185C>T (p.Gly395=) c.1167C>T (p.Gly389=) c.1065C>T (p.Gly355=) n.1332-298G>A c.1245C>T (p.Gly415=) c.1347C>T (p.Gly449=) c.1287C>T (p.Gly429=) n.3607-298G>A n.4043-298G>A c.1170C>T (p.Gly390=) c.1188C>T (p.Gly396=) c.945C>T (p.Gly315=) c.978C>T (p.Gly326=) c.996C>T (p.Gly332=) | |
2 | g.127428563C>A | CA348405359 | PROC | c.1003C>A (p.Gln335Lys) c.327C>A c.1105C>A (p.Gln369Lys) c.1186C>A (p.Gln396Lys) c.1168C>A (p.Gln390Lys) c.1066C>A (p.Gln356Lys) n.1332-299G>T c.1246C>A (p.Gln416Lys) c.1348C>A (p.Gln450Lys) c.1288C>A (p.Gln430Lys) n.3607-299G>T n.4043-299G>T c.1171C>A (p.Gln391Lys) c.1189C>A (p.Gln397Lys) c.946C>A (p.Gln316Lys) c.979C>A (p.Gln327Lys) c.997C>A (p.Gln333Lys) | |
2 | g.127428563C>G | CA348405361 | PROC | c.1003C>G (p.Gln335Glu) c.327C>G c.1105C>G (p.Gln369Glu) c.1186C>G (p.Gln396Glu) c.1168C>G (p.Gln390Glu) c.1066C>G (p.Gln356Glu) n.1332-299G>C c.1246C>G (p.Gln416Glu) c.1348C>G (p.Gln450Glu) c.1288C>G (p.Gln430Glu) n.3607-299G>C n.4043-299G>C c.1171C>G (p.Gln391Glu) c.1189C>G (p.Gln397Glu) c.946C>G (p.Gln316Glu) c.979C>G (p.Gln327Glu) c.997C>G (p.Gln333Glu) | |
2 | g.127428563C>T | CA348405356 | PROC | c.1003C>T (p.Gln335Ter) c.327C>T c.1105C>T (p.Gln369Ter) c.1186C>T (p.Gln396Ter) c.1168C>T (p.Gln390Ter) c.1066C>T (p.Gln356Ter) n.1332-299G>A c.1246C>T (p.Gln416Ter) c.1348C>T (p.Gln450Ter) c.1288C>T (p.Gln430Ter) n.3607-299G>A n.4043-299G>A c.1171C>T (p.Gln391Ter) c.1189C>T (p.Gln397Ter) c.946C>T (p.Gln316Ter) c.979C>T (p.Gln327Ter) c.997C>T (p.Gln333Ter) | |
2 | g.127428564A>C | CA348405365 | PROC | c.1004A>C (p.Gln335Pro) c.328A>C c.1106A>C (p.Gln369Pro) c.1187A>C (p.Gln396Pro) c.1169A>C (p.Gln390Pro) c.1067A>C (p.Gln356Pro) n.1332-300T>G c.1247A>C (p.Gln416Pro) c.1349A>C (p.Gln450Pro) c.1289A>C (p.Gln430Pro) n.3607-300T>G n.4043-300T>G c.1172A>C (p.Gln391Pro) c.1190A>C (p.Gln397Pro) c.947A>C (p.Gln316Pro) c.980A>C (p.Gln327Pro) c.998A>C (p.Gln333Pro) | |
2 | g.127428564A>G | CA348405368 | PROC | c.1004A>G (p.Gln335Arg) c.328A>G c.1106A>G (p.Gln369Arg) c.1187A>G (p.Gln396Arg) c.1169A>G (p.Gln390Arg) c.1067A>G (p.Gln356Arg) n.1332-300T>C c.1247A>G (p.Gln416Arg) c.1349A>G (p.Gln450Arg) c.1289A>G (p.Gln430Arg) n.3607-300T>C n.4043-300T>C c.1172A>G (p.Gln391Arg) c.1190A>G (p.Gln397Arg) c.947A>G (p.Gln316Arg) c.980A>G (p.Gln327Arg) c.998A>G (p.Gln333Arg) | |
2 | g.127428564A>T | CA348405369 | PROC | c.1004A>T (p.Gln335Leu) c.328A>T c.1106A>T (p.Gln369Leu) c.1187A>T (p.Gln396Leu) c.1169A>T (p.Gln390Leu) c.1067A>T (p.Gln356Leu) n.1332-300T>A c.1247A>T (p.Gln416Leu) c.1349A>T (p.Gln450Leu) c.1289A>T (p.Gln430Leu) n.3607-300T>A n.4043-300T>A c.1172A>T (p.Gln391Leu) c.1190A>T (p.Gln397Leu) c.947A>T (p.Gln316Leu) c.980A>T (p.Gln327Leu) c.998A>T (p.Gln333Leu) | |
2 | g.127428565G>A | CA428871877 | PROC | c.1005G>A (p.Gln335=) c.329G>A c.1107G>A (p.Gln369=) c.1188G>A (p.Gln396=) c.1170G>A (p.Gln390=) c.1068G>A (p.Gln356=) n.1332-301C>T c.1248G>A (p.Gln416=) c.1350G>A (p.Gln450=) c.1290G>A (p.Gln430=) n.3607-301C>T n.4043-301C>T c.1173G>A (p.Gln391=) c.1191G>A (p.Gln397=) c.948G>A (p.Gln316=) c.981G>A (p.Gln327=) c.999G>A (p.Gln333=) | ClinVar gnomAD v4 |
2 | g.127428565G>C | CA348405376 | PROC | c.1005G>C (p.Gln335His) c.329G>C c.1107G>C (p.Gln369His) c.1188G>C (p.Gln396His) c.1170G>C (p.Gln390His) c.1068G>C (p.Gln356His) n.1332-301C>G c.1248G>C (p.Gln416His) c.1350G>C (p.Gln450His) c.1290G>C (p.Gln430His) n.3607-301C>G n.4043-301C>G c.1173G>C (p.Gln391His) c.1191G>C (p.Gln397His) c.948G>C (p.Gln316His) c.981G>C (p.Gln327His) c.999G>C (p.Gln333His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428565G= | CA1286884528 | PROC | c.1005G= (p.Gln335=) c.329G= c.1107G= (p.Gln369=) c.1188G= (p.Gln396=) c.1170G= (p.Gln390=) c.1068G= (p.Gln356=) n.1332-301C= c.1248G= (p.Gln416=) c.1350G= (p.Gln450=) c.1290G= (p.Gln430=) n.3607-301C= n.4043-301C= c.1173G= (p.Gln391=) c.1191G= (p.Gln397=) c.948G= (p.Gln316=) c.981G= (p.Gln327=) c.999G= (p.Gln333=) | |
2 | g.127428565G>T | CA348405378 | PROC | c.1005G>T (p.Gln335His) c.329G>T c.1107G>T (p.Gln369His) c.1188G>T (p.Gln396His) c.1170G>T (p.Gln390His) c.1068G>T (p.Gln356His) n.1332-301C>A c.1248G>T (p.Gln416His) c.1350G>T (p.Gln450His) c.1290G>T (p.Gln430His) n.3607-301C>A n.4043-301C>A c.1173G>T (p.Gln391His) c.1191G>T (p.Gln397His) c.948G>T (p.Gln316His) c.981G>T (p.Gln327His) c.999G>T (p.Gln333His) | |
2 | g.127428566G>A | CA348405382 | PROC | c.1006G>A (p.Glu336Lys) c.330G>A c.1108G>A (p.Glu370Lys) c.1189G>A (p.Glu397Lys) c.1171G>A (p.Glu391Lys) c.1069G>A (p.Glu357Lys) n.1332-302C>T c.1249G>A (p.Glu417Lys) c.1351G>A (p.Glu451Lys) c.1291G>A (p.Glu431Lys) n.3607-302C>T n.4043-302C>T c.1174G>A (p.Glu392Lys) c.1192G>A (p.Glu398Lys) c.949G>A (p.Glu317Lys) c.982G>A (p.Glu328Lys) c.1000G>A (p.Glu334Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428566G>C | CA348405384 | PROC | c.1006G>C (p.Glu336Gln) c.330G>C c.1108G>C (p.Glu370Gln) c.1189G>C (p.Glu397Gln) c.1171G>C (p.Glu391Gln) c.1069G>C (p.Glu357Gln) n.1332-302C>G c.1249G>C (p.Glu417Gln) c.1351G>C (p.Glu451Gln) c.1291G>C (p.Glu431Gln) n.3607-302C>G n.4043-302C>G c.1174G>C (p.Glu392Gln) c.1192G>C (p.Glu398Gln) c.949G>C (p.Glu317Gln) c.982G>C (p.Glu328Gln) c.1000G>C (p.Glu334Gln) | |
2 | g.127428566G= | CA1286884529 | PROC | c.1006G= (p.Glu336=) c.330G= c.1108G= (p.Glu370=) c.1189G= (p.Glu397=) c.1171G= (p.Glu391=) c.1069G= (p.Glu357=) n.1332-302C= c.1249G= (p.Glu417=) c.1351G= (p.Glu451=) c.1291G= (p.Glu431=) n.3607-302C= n.4043-302C= c.1174G= (p.Glu392=) c.1192G= (p.Glu398=) c.949G= (p.Glu317=) c.982G= (p.Glu328=) c.1000G= (p.Glu334=) | |
2 | g.127428566G>T | CA348405386 | PROC | c.1006G>T (p.Glu336Ter) c.330G>T c.1108G>T (p.Glu370Ter) c.1189G>T (p.Glu397Ter) c.1171G>T (p.Glu391Ter) c.1069G>T (p.Glu357Ter) n.1332-302C>A c.1249G>T (p.Glu417Ter) c.1351G>T (p.Glu451Ter) c.1291G>T (p.Glu431Ter) n.3607-302C>A n.4043-302C>A c.1174G>T (p.Glu392Ter) c.1192G>T (p.Glu398Ter) c.949G>T (p.Glu317Ter) c.982G>T (p.Glu328Ter) c.1000G>T (p.Glu334Ter) | |
2 | g.127428567A>C | CA348405391 | PROC | c.1007A>C (p.Glu336Ala) c.331A>C c.1109A>C (p.Glu370Ala) c.1190A>C (p.Glu397Ala) c.1172A>C (p.Glu391Ala) c.1070A>C (p.Glu357Ala) n.1332-303T>G c.1250A>C (p.Glu417Ala) c.1352A>C (p.Glu451Ala) c.1292A>C (p.Glu431Ala) n.3607-303T>G n.4043-303T>G c.1175A>C (p.Glu392Ala) c.1193A>C (p.Glu398Ala) c.950A>C (p.Glu317Ala) c.983A>C (p.Glu328Ala) c.1001A>C (p.Glu334Ala) | |
2 | g.127428567A>G | CA348405393 | PROC | c.1007A>G (p.Glu336Gly) c.331A>G c.1109A>G (p.Glu370Gly) c.1190A>G (p.Glu397Gly) c.1172A>G (p.Glu391Gly) c.1070A>G (p.Glu357Gly) n.1332-303T>C c.1250A>G (p.Glu417Gly) c.1352A>G (p.Glu451Gly) c.1292A>G (p.Glu431Gly) n.3607-303T>C n.4043-303T>C c.1175A>G (p.Glu392Gly) c.1193A>G (p.Glu398Gly) c.950A>G (p.Glu317Gly) c.983A>G (p.Glu328Gly) c.1001A>G (p.Glu334Gly) | |
2 | g.127428567A>T | CA348405397 | PROC | c.1007A>T (p.Glu336Val) c.331A>T c.1109A>T (p.Glu370Val) c.1190A>T (p.Glu397Val) c.1172A>T (p.Glu391Val) c.1070A>T (p.Glu357Val) n.1332-303T>A c.1250A>T (p.Glu417Val) c.1352A>T (p.Glu451Val) c.1292A>T (p.Glu431Val) n.3607-303T>A n.4043-303T>A c.1175A>T (p.Glu392Val) c.1193A>T (p.Glu398Val) c.950A>T (p.Glu317Val) c.983A>T (p.Glu328Val) c.1001A>T (p.Glu334Val) | |
2 | g.127428568G>A | CA428871894 | PROC | c.1008G>A (p.Glu336=) c.332G>A c.1110G>A (p.Glu370=) c.1191G>A (p.Glu397=) c.1173G>A (p.Glu391=) c.1071G>A (p.Glu357=) n.1332-304C>T c.1251G>A (p.Glu417=) c.1353G>A (p.Glu451=) c.1293G>A (p.Glu431=) n.3607-304C>T n.4043-304C>T c.1176G>A (p.Glu392=) c.1194G>A (p.Glu398=) c.951G>A (p.Glu317=) c.984G>A (p.Glu328=) c.1002G>A (p.Glu334=) | |
2 | g.127428568G>C | CA348405398 | PROC | c.1008G>C (p.Glu336Asp) c.332G>C c.1110G>C (p.Glu370Asp) c.1191G>C (p.Glu397Asp) c.1173G>C (p.Glu391Asp) c.1071G>C (p.Glu357Asp) n.1332-304C>G c.1251G>C (p.Glu417Asp) c.1353G>C (p.Glu451Asp) c.1293G>C (p.Glu431Asp) n.3607-304C>G n.4043-304C>G c.1176G>C (p.Glu392Asp) c.1194G>C (p.Glu398Asp) c.951G>C (p.Glu317Asp) c.984G>C (p.Glu328Asp) c.1002G>C (p.Glu334Asp) | |
2 | g.127428568G>T | CA348405401 | PROC | c.1008G>T (p.Glu336Asp) c.332G>T c.1110G>T (p.Glu370Asp) c.1191G>T (p.Glu397Asp) c.1173G>T (p.Glu391Asp) c.1071G>T (p.Glu357Asp) n.1332-304C>A c.1251G>T (p.Glu417Asp) c.1353G>T (p.Glu451Asp) c.1293G>T (p.Glu431Asp) n.3607-304C>A n.4043-304C>A c.1176G>T (p.Glu392Asp) c.1194G>T (p.Glu398Asp) c.951G>T (p.Glu317Asp) c.984G>T (p.Glu328Asp) c.1002G>T (p.Glu334Asp) | |
2 | g.127428569A>C | CA348405408 | PROC | c.1009A>C (p.Thr337Pro) c.333A>C c.1111A>C (p.Thr371Pro) c.1192A>C (p.Thr398Pro) c.1174A>C (p.Thr392Pro) c.1072A>C (p.Thr358Pro) n.1332-305T>G c.1252A>C (p.Thr418Pro) c.1354A>C (p.Thr452Pro) c.1294A>C (p.Thr432Pro) n.3607-305T>G n.4043-305T>G c.1177A>C (p.Thr393Pro) c.1195A>C (p.Thr399Pro) c.952A>C (p.Thr318Pro) c.985A>C (p.Thr329Pro) c.1003A>C (p.Thr335Pro) | |
2 | g.127428569A>G | CA348405407 | PROC | c.1009A>G (p.Thr337Ala) c.333A>G c.1111A>G (p.Thr371Ala) c.1192A>G (p.Thr398Ala) c.1174A>G (p.Thr392Ala) c.1072A>G (p.Thr358Ala) n.1332-305T>C c.1252A>G (p.Thr418Ala) c.1354A>G (p.Thr452Ala) c.1294A>G (p.Thr432Ala) n.3607-305T>C n.4043-305T>C c.1177A>G (p.Thr393Ala) c.1195A>G (p.Thr399Ala) c.952A>G (p.Thr318Ala) c.985A>G (p.Thr329Ala) c.1003A>G (p.Thr335Ala) | |
2 | g.127428569A>T | CA348405405 | PROC | c.1009A>T (p.Thr337Ser) c.333A>T c.1111A>T (p.Thr371Ser) c.1192A>T (p.Thr398Ser) c.1174A>T (p.Thr392Ser) c.1072A>T (p.Thr358Ser) n.1332-305T>A c.1252A>T (p.Thr418Ser) c.1354A>T (p.Thr452Ser) c.1294A>T (p.Thr432Ser) n.3607-305T>A n.4043-305T>A c.1177A>T (p.Thr393Ser) c.1195A>T (p.Thr399Ser) c.952A>T (p.Thr318Ser) c.985A>T (p.Thr329Ser) c.1003A>T (p.Thr335Ser) | |
2 | g.127428570C>A | CA348405412 | PROC | c.1010C>A (p.Thr337Asn) c.334C>A c.1112C>A (p.Thr371Asn) c.1193C>A (p.Thr398Asn) c.1175C>A (p.Thr392Asn) c.1073C>A (p.Thr358Asn) n.1332-306G>T c.1253C>A (p.Thr418Asn) c.1355C>A (p.Thr452Asn) c.1295C>A (p.Thr432Asn) n.3607-306G>T n.4043-306G>T c.1178C>A (p.Thr393Asn) c.1196C>A (p.Thr399Asn) c.953C>A (p.Thr318Asn) c.986C>A (p.Thr329Asn) c.1004C>A (p.Thr335Asn) | |
2 | g.127428570C= | CA1286884530 | PROC | c.1010C= (p.Thr337=) c.334C= c.1112C= (p.Thr371=) c.1193C= (p.Thr398=) c.1175C= (p.Thr392=) c.1073C= (p.Thr358=) n.1332-306G= c.1253C= (p.Thr418=) c.1355C= (p.Thr452=) c.1295C= (p.Thr432=) n.3607-306G= n.4043-306G= c.1178C= (p.Thr393=) c.1196C= (p.Thr399=) c.953C= (p.Thr318=) c.986C= (p.Thr329=) c.1004C= (p.Thr335=) | |
2 | g.127428570C>G | CA348405415 | PROC | c.1010C>G (p.Thr337Ser) c.334C>G c.1112C>G (p.Thr371Ser) c.1193C>G (p.Thr398Ser) c.1175C>G (p.Thr392Ser) c.1073C>G (p.Thr358Ser) n.1332-306G>C c.1253C>G (p.Thr418Ser) c.1355C>G (p.Thr452Ser) c.1295C>G (p.Thr432Ser) n.3607-306G>C n.4043-306G>C c.1178C>G (p.Thr393Ser) c.1196C>G (p.Thr399Ser) c.953C>G (p.Thr318Ser) c.986C>G (p.Thr329Ser) c.1004C>G (p.Thr335Ser) | |
2 | g.127428570C>T | CA211727 | PROC | c.1010C>T (p.Thr337Ile) c.334C>T c.1112C>T (p.Thr371Ile) c.1193C>T (p.Thr398Ile) c.1175C>T (p.Thr392Ile) c.1073C>T (p.Thr358Ile) n.1332-306G>A c.1253C>T (p.Thr418Ile) c.1355C>T (p.Thr452Ile) c.1295C>T (p.Thr432Ile) n.3607-306G>A n.4043-306G>A c.1178C>T (p.Thr393Ile) c.1196C>T (p.Thr399Ile) c.953C>T (p.Thr318Ile) c.986C>T (p.Thr329Ile) c.1004C>T (p.Thr335Ile) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.127428571C>A | CA428871904 | PROC | c.1011C>A (p.Thr337=) c.335C>A c.1113C>A (p.Thr371=) c.1194C>A (p.Thr398=) c.1176C>A (p.Thr392=) c.1074C>A (p.Thr358=) n.1332-307G>T c.1254C>A (p.Thr418=) c.1356C>A (p.Thr452=) c.1296C>A (p.Thr432=) n.3607-307G>T n.4043-307G>T c.1179C>A (p.Thr393=) c.1197C>A (p.Thr399=) c.954C>A (p.Thr318=) c.987C>A (p.Thr329=) c.1005C>A (p.Thr335=) | |
2 | g.127428571C>G | CA428871906 | PROC | c.1011C>G (p.Thr337=) c.335C>G c.1113C>G (p.Thr371=) c.1194C>G (p.Thr398=) c.1176C>G (p.Thr392=) c.1074C>G (p.Thr358=) n.1332-307G>C c.1254C>G (p.Thr418=) c.1356C>G (p.Thr452=) c.1296C>G (p.Thr432=) n.3607-307G>C n.4043-307G>C c.1179C>G (p.Thr393=) c.1197C>G (p.Thr399=) c.954C>G (p.Thr318=) c.987C>G (p.Thr329=) c.1005C>G (p.Thr335=) | |
2 | g.127428571C>T | CA428871908 | PROC | c.1011C>T (p.Thr337=) c.335C>T c.1113C>T (p.Thr371=) c.1194C>T (p.Thr398=) c.1176C>T (p.Thr392=) c.1074C>T (p.Thr358=) n.1332-307G>A c.1254C>T (p.Thr418=) c.1356C>T (p.Thr452=) c.1296C>T (p.Thr432=) n.3607-307G>A n.4043-307G>A c.1179C>T (p.Thr393=) c.1197C>T (p.Thr399=) c.954C>T (p.Thr318=) c.987C>T (p.Thr329=) c.1005C>T (p.Thr335=) | |
2 | g.127428572C>A | CA348405421 | PROC | c.1012C>A (p.Leu338Ile) c.336C>A c.1114C>A (p.Leu372Ile) c.1195C>A (p.Leu399Ile) c.1177C>A (p.Leu393Ile) c.1075C>A (p.Leu359Ile) n.1332-308G>T c.1255C>A (p.Leu419Ile) c.1357C>A (p.Leu453Ile) c.1297C>A (p.Leu433Ile) n.3607-308G>T n.4043-308G>T c.1180C>A (p.Leu394Ile) c.1198C>A (p.Leu400Ile) c.955C>A (p.Leu319Ile) c.988C>A (p.Leu330Ile) c.1006C>A (p.Leu336Ile) | |
2 | g.127428572C>G | CA348405427 | PROC | c.1012C>G (p.Leu338Val) c.336C>G c.1114C>G (p.Leu372Val) c.1195C>G (p.Leu399Val) c.1177C>G (p.Leu393Val) c.1075C>G (p.Leu359Val) n.1332-308G>C c.1255C>G (p.Leu419Val) c.1357C>G (p.Leu453Val) c.1297C>G (p.Leu433Val) n.3607-308G>C n.4043-308G>C c.1180C>G (p.Leu394Val) c.1198C>G (p.Leu400Val) c.955C>G (p.Leu319Val) c.988C>G (p.Leu330Val) c.1006C>G (p.Leu336Val) | gnomAD v4 |
2 | g.127428572C>T | CA348405429 | PROC | c.1012C>T (p.Leu338Phe) c.336C>T c.1114C>T (p.Leu372Phe) c.1195C>T (p.Leu399Phe) c.1177C>T (p.Leu393Phe) c.1075C>T (p.Leu359Phe) n.1332-308G>A c.1255C>T (p.Leu419Phe) c.1357C>T (p.Leu453Phe) c.1297C>T (p.Leu433Phe) n.3607-308G>A n.4043-308G>A c.1180C>T (p.Leu394Phe) c.1198C>T (p.Leu400Phe) c.955C>T (p.Leu319Phe) c.988C>T (p.Leu330Phe) c.1006C>T (p.Leu336Phe) | |
2 | g.127428573T>A | CA348405432 | PROC | c.1013T>A (p.Leu338His) c.337T>A c.1115T>A (p.Leu372His) c.1196T>A (p.Leu399His) c.1178T>A (p.Leu393His) c.1076T>A (p.Leu359His) n.1332-309A>T c.1256T>A (p.Leu419His) c.1358T>A (p.Leu453His) c.1298T>A (p.Leu433His) n.3607-309A>T n.4043-309A>T c.1181T>A (p.Leu394His) c.1199T>A (p.Leu400His) c.956T>A (p.Leu319His) c.989T>A (p.Leu330His) c.1007T>A (p.Leu336His) | gnomAD v4 |
2 | g.127428573T>C | CA348405436 | PROC | c.1013T>C (p.Leu338Pro) c.337T>C c.1115T>C (p.Leu372Pro) c.1196T>C (p.Leu399Pro) c.1178T>C (p.Leu393Pro) c.1076T>C (p.Leu359Pro) n.1332-309A>G c.1256T>C (p.Leu419Pro) c.1358T>C (p.Leu453Pro) c.1298T>C (p.Leu433Pro) n.3607-309A>G n.4043-309A>G c.1181T>C (p.Leu394Pro) c.1199T>C (p.Leu400Pro) c.956T>C (p.Leu319Pro) c.989T>C (p.Leu330Pro) c.1007T>C (p.Leu336Pro) | |
2 | g.127428573T>G | CA348405438 | PROC | c.1013T>G (p.Leu338Arg) c.337T>G c.1115T>G (p.Leu372Arg) c.1196T>G (p.Leu399Arg) c.1178T>G (p.Leu393Arg) c.1076T>G (p.Leu359Arg) n.1332-309A>C c.1256T>G (p.Leu419Arg) c.1358T>G (p.Leu453Arg) c.1298T>G (p.Leu433Arg) n.3607-309A>C n.4043-309A>C c.1181T>G (p.Leu394Arg) c.1199T>G (p.Leu400Arg) c.956T>G (p.Leu319Arg) c.989T>G (p.Leu330Arg) c.1007T>G (p.Leu336Arg) | |
2 | g.127428574C>A | CA428871919 | PROC | c.1014C>A (p.Leu338=) c.338C>A c.1116C>A (p.Leu372=) c.1197C>A (p.Leu399=) c.1179C>A (p.Leu393=) c.1077C>A (p.Leu359=) n.1332-310G>T c.1257C>A (p.Leu419=) c.1359C>A (p.Leu453=) c.1299C>A (p.Leu433=) n.3607-310G>T n.4043-310G>T c.1182C>A (p.Leu394=) c.1200C>A (p.Leu400=) c.957C>A (p.Leu319=) c.990C>A (p.Leu330=) c.1008C>A (p.Leu336=) | |
2 | g.127428574C= | CA1286884531 | PROC | c.1014C= (p.Leu338=) c.338C= c.1116C= (p.Leu372=) c.1197C= (p.Leu399=) c.1179C= (p.Leu393=) c.1077C= (p.Leu359=) n.1332-310G= c.1257C= (p.Leu419=) c.1359C= (p.Leu453=) c.1299C= (p.Leu433=) n.3607-310G= n.4043-310G= c.1182C= (p.Leu394=) c.1200C= (p.Leu400=) c.957C= (p.Leu319=) c.990C= (p.Leu330=) c.1008C= (p.Leu336=) | |
2 | g.127428574C>G | CA428871923 | PROC | c.1014C>G (p.Leu338=) c.338C>G c.1116C>G (p.Leu372=) c.1197C>G (p.Leu399=) c.1179C>G (p.Leu393=) c.1077C>G (p.Leu359=) n.1332-310G>C c.1257C>G (p.Leu419=) c.1359C>G (p.Leu453=) c.1299C>G (p.Leu433=) n.3607-310G>C n.4043-310G>C c.1182C>G (p.Leu394=) c.1200C>G (p.Leu400=) c.957C>G (p.Leu319=) c.990C>G (p.Leu330=) c.1008C>G (p.Leu336=) | |
2 | g.127428574C>T | CA1859503 | PROC | c.1014C>T (p.Leu338=) c.338C>T c.1116C>T (p.Leu372=) c.1197C>T (p.Leu399=) c.1179C>T (p.Leu393=) c.1077C>T (p.Leu359=) n.1332-310G>A c.1257C>T (p.Leu419=) c.1359C>T (p.Leu453=) c.1299C>T (p.Leu433=) n.3607-310G>A n.4043-310G>A c.1182C>T (p.Leu394=) c.1200C>T (p.Leu400=) c.957C>T (p.Leu319=) c.990C>T (p.Leu330=) c.1008C>T (p.Leu336=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428575G>A | CA114425 | PROC | c.1015G>A (p.Val339Met) c.339G>A c.1117G>A (p.Val373Met) c.1198G>A (p.Val400Met) c.1180G>A (p.Val394Met) c.1078G>A (p.Val360Met) n.1332-311C>T c.1258G>A (p.Val420Met) c.1360G>A (p.Val454Met) c.1300G>A (p.Val434Met) n.3607-311C>T n.4043-311C>T c.1183G>A (p.Val395Met) c.1201G>A (p.Val401Met) c.958G>A (p.Val320Met) c.991G>A (p.Val331Met) c.1009G>A (p.Val337Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428575G>C | CA348405447 | PROC | c.1015G>C (p.Val339Leu) c.339G>C c.1117G>C (p.Val373Leu) c.1198G>C (p.Val400Leu) c.1180G>C (p.Val394Leu) c.1078G>C (p.Val360Leu) n.1332-311C>G c.1258G>C (p.Val420Leu) c.1360G>C (p.Val454Leu) c.1300G>C (p.Val434Leu) n.3607-311C>G n.4043-311C>G c.1183G>C (p.Val395Leu) c.1201G>C (p.Val401Leu) c.958G>C (p.Val320Leu) c.991G>C (p.Val331Leu) c.1009G>C (p.Val337Leu) | |
2 | g.127428575G= | CA1286884532 | PROC | c.1015G= (p.Val339=) c.339G= c.1117G= (p.Val373=) c.1198G= (p.Val400=) c.1180G= (p.Val394=) c.1078G= (p.Val360=) n.1332-311C= c.1258G= (p.Val420=) c.1360G= (p.Val454=) c.1300G= (p.Val434=) n.3607-311C= n.4043-311C= c.1183G= (p.Val395=) c.1201G= (p.Val401=) c.958G= (p.Val320=) c.991G= (p.Val331=) c.1009G= (p.Val337=) | |
2 | g.127428575G>T | CA348405449 | PROC | c.1015G>T (p.Val339Leu) c.339G>T c.1117G>T (p.Val373Leu) c.1198G>T (p.Val400Leu) c.1180G>T (p.Val394Leu) c.1078G>T (p.Val360Leu) n.1332-311C>A c.1258G>T (p.Val420Leu) c.1360G>T (p.Val454Leu) c.1300G>T (p.Val434Leu) n.3607-311C>A n.4043-311C>A c.1183G>T (p.Val395Leu) c.1201G>T (p.Val401Leu) c.958G>T (p.Val320Leu) c.991G>T (p.Val331Leu) c.1009G>T (p.Val337Leu) | |
2 | g.127428576T>A | CA348405460 | PROC | c.1016T>A (p.Val339Glu) c.340T>A c.1118T>A (p.Val373Glu) c.1199T>A (p.Val400Glu) c.1181T>A (p.Val394Glu) c.1079T>A (p.Val360Glu) n.1332-312A>T c.1259T>A (p.Val420Glu) c.1361T>A (p.Val454Glu) c.1301T>A (p.Val434Glu) n.3607-312A>T n.4043-312A>T c.1184T>A (p.Val395Glu) c.1202T>A (p.Val401Glu) c.959T>A (p.Val320Glu) c.992T>A (p.Val331Glu) c.1010T>A (p.Val337Glu) | |
2 | g.127428576T>C | CA348405462 | PROC | c.1016T>C (p.Val339Ala) c.340T>C c.1118T>C (p.Val373Ala) c.1199T>C (p.Val400Ala) c.1181T>C (p.Val394Ala) c.1079T>C (p.Val360Ala) n.1332-312A>G c.1259T>C (p.Val420Ala) c.1361T>C (p.Val454Ala) c.1301T>C (p.Val434Ala) n.3607-312A>G n.4043-312A>G c.1184T>C (p.Val395Ala) c.1202T>C (p.Val401Ala) c.959T>C (p.Val320Ala) c.992T>C (p.Val331Ala) c.1010T>C (p.Val337Ala) | |
2 | g.127428576T>G | CA348405458 | PROC | c.1016T>G (p.Val339Gly) c.340T>G c.1118T>G (p.Val373Gly) c.1199T>G (p.Val400Gly) c.1181T>G (p.Val394Gly) c.1079T>G (p.Val360Gly) n.1332-312A>C c.1259T>G (p.Val420Gly) c.1361T>G (p.Val454Gly) c.1301T>G (p.Val434Gly) n.3607-312A>C n.4043-312A>C c.1184T>G (p.Val395Gly) c.1202T>G (p.Val401Gly) c.959T>G (p.Val320Gly) c.992T>G (p.Val331Gly) c.1010T>G (p.Val337Gly) | |
2 | g.127428576dup | CA2660997780 | PROC | c.1016dup (p.Thr340AspfsTer?) c.340dup c.1118dup (p.Thr374AspfsTer?) c.1199dup (p.Thr401AspfsTer?) c.1181dup (p.Thr395AspfsTer?) c.1079dup (p.Thr361AspfsTer?) n.1332-312dup c.1259dup (p.Thr421AspfsTer?) c.1361dup (p.Thr455AspfsTer?) c.1301dup (p.Thr435AspfsTer?) n.3607-312dup n.4043-312dup c.1184dup (p.Thr396AspfsTer?) c.1202dup (p.Thr402AspfsTer?) c.959dup (p.Thr321AspfsTer?) c.992dup (p.Thr332AspfsTer?) c.1010dup (p.Thr338AspfsTer?) | gnomAD v4 |
2 | g.127428577G>A | CA55350934 | PROC | c.1017G>A (p.Val339=) c.341G>A c.1119G>A (p.Val373=) c.1200G>A (p.Val400=) c.1182G>A (p.Val394=) c.1080G>A (p.Val360=) n.1332-313C>T c.1260G>A (p.Val420=) c.1362G>A (p.Val454=) c.1302G>A (p.Val434=) n.3607-313C>T n.4043-313C>T c.1185G>A (p.Val395=) c.1203G>A (p.Val401=) c.960G>A (p.Val320=) c.993G>A (p.Val331=) c.1011G>A (p.Val337=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428577G>C | CA428871936 | PROC | c.1017G>C (p.Val339=) c.341G>C c.1119G>C (p.Val373=) c.1200G>C (p.Val400=) c.1182G>C (p.Val394=) c.1080G>C (p.Val360=) n.1332-313C>G c.1260G>C (p.Val420=) c.1362G>C (p.Val454=) c.1302G>C (p.Val434=) n.3607-313C>G n.4043-313C>G c.1185G>C (p.Val395=) c.1203G>C (p.Val401=) c.960G>C (p.Val320=) c.993G>C (p.Val331=) c.1011G>C (p.Val337=) | |
2 | g.127428577G= | CA1286884533 | PROC | c.1017G= (p.Val339=) c.341G= c.1119G= (p.Val373=) c.1200G= (p.Val400=) c.1182G= (p.Val394=) c.1080G= (p.Val360=) n.1332-313C= c.1260G= (p.Val420=) c.1362G= (p.Val454=) c.1302G= (p.Val434=) n.3607-313C= n.4043-313C= c.1185G= (p.Val395=) c.1203G= (p.Val401=) c.960G= (p.Val320=) c.993G= (p.Val331=) c.1011G= (p.Val337=) | |
2 | g.127428577G>T | CA428871938 | PROC | c.1017G>T (p.Val339=) c.341G>T c.1119G>T (p.Val373=) c.1200G>T (p.Val400=) c.1182G>T (p.Val394=) c.1080G>T (p.Val360=) n.1332-313C>A c.1260G>T (p.Val420=) c.1362G>T (p.Val454=) c.1302G>T (p.Val434=) n.3607-313C>A n.4043-313C>A c.1185G>T (p.Val395=) c.1203G>T (p.Val401=) c.960G>T (p.Val320=) c.993G>T (p.Val331=) c.1011G>T (p.Val337=) | |
2 | g.127428578A>C | CA348405465 | PROC | c.1018A>C (p.Thr340Pro) c.342A>C c.1120A>C (p.Thr374Pro) c.1201A>C (p.Thr401Pro) c.1183A>C (p.Thr395Pro) c.1081A>C (p.Thr361Pro) n.1332-314T>G c.1261A>C (p.Thr421Pro) c.1363A>C (p.Thr455Pro) c.1303A>C (p.Thr435Pro) n.3607-314T>G n.4043-314T>G c.1186A>C (p.Thr396Pro) c.1204A>C (p.Thr402Pro) c.961A>C (p.Thr321Pro) c.994A>C (p.Thr332Pro) c.1012A>C (p.Thr338Pro) | |
2 | g.127428578A>G | CA348405471 | PROC | c.1018A>G (p.Thr340Ala) c.342A>G c.1120A>G (p.Thr374Ala) c.1201A>G (p.Thr401Ala) c.1183A>G (p.Thr395Ala) c.1081A>G (p.Thr361Ala) n.1332-314T>C c.1261A>G (p.Thr421Ala) c.1363A>G (p.Thr455Ala) c.1303A>G (p.Thr435Ala) n.3607-314T>C n.4043-314T>C c.1186A>G (p.Thr396Ala) c.1204A>G (p.Thr402Ala) c.961A>G (p.Thr321Ala) c.994A>G (p.Thr332Ala) c.1012A>G (p.Thr338Ala) | |
2 | g.127428578A>T | CA348405472 | PROC | c.1018A>T (p.Thr340Ser) c.342A>T c.1120A>T (p.Thr374Ser) c.1201A>T (p.Thr401Ser) c.1183A>T (p.Thr395Ser) c.1081A>T (p.Thr361Ser) n.1332-314T>A c.1261A>T (p.Thr421Ser) c.1363A>T (p.Thr455Ser) c.1303A>T (p.Thr435Ser) n.3607-314T>A n.4043-314T>A c.1186A>T (p.Thr396Ser) c.1204A>T (p.Thr402Ser) c.961A>T (p.Thr321Ser) c.994A>T (p.Thr332Ser) c.1012A>T (p.Thr338Ser) | |
2 | g.127428579C>A | CA348405477 | PROC | c.1019C>A (p.Thr340Lys) c.343C>A c.1121C>A (p.Thr374Lys) c.1202C>A (p.Thr401Lys) c.1184C>A (p.Thr395Lys) c.1082C>A (p.Thr361Lys) n.1332-315G>T c.1262C>A (p.Thr421Lys) c.1364C>A (p.Thr455Lys) c.1304C>A (p.Thr435Lys) n.3607-315G>T n.4043-315G>T c.1187C>A (p.Thr396Lys) c.1205C>A (p.Thr402Lys) c.962C>A (p.Thr321Lys) c.995C>A (p.Thr332Lys) c.1013C>A (p.Thr338Lys) | ClinVar dbSNP |
2 | g.127428579C= | CA1286884534 | PROC | c.1019C= (p.Thr340=) c.343C= c.1121C= (p.Thr374=) c.1202C= (p.Thr401=) c.1184C= (p.Thr395=) c.1082C= (p.Thr361=) n.1332-315G= c.1262C= (p.Thr421=) c.1364C= (p.Thr455=) c.1304C= (p.Thr435=) n.3607-315G= n.4043-315G= c.1187C= (p.Thr396=) c.1205C= (p.Thr402=) c.962C= (p.Thr321=) c.995C= (p.Thr332=) c.1013C= (p.Thr338=) | |
2 | g.127428579C>G | CA348405480 | PROC | c.1019C>G (p.Thr340Arg) c.343C>G c.1121C>G (p.Thr374Arg) c.1202C>G (p.Thr401Arg) c.1184C>G (p.Thr395Arg) c.1082C>G (p.Thr361Arg) n.1332-315G>C c.1262C>G (p.Thr421Arg) c.1364C>G (p.Thr455Arg) c.1304C>G (p.Thr435Arg) n.3607-315G>C n.4043-315G>C c.1187C>G (p.Thr396Arg) c.1205C>G (p.Thr402Arg) c.962C>G (p.Thr321Arg) c.995C>G (p.Thr332Arg) c.1013C>G (p.Thr338Arg) | |
2 | g.127428579C>T | CA1859504 | PROC | c.1019C>T (p.Thr340Met) c.343C>T c.1121C>T (p.Thr374Met) c.1202C>T (p.Thr401Met) c.1184C>T (p.Thr395Met) c.1082C>T (p.Thr361Met) n.1332-315G>A c.1262C>T (p.Thr421Met) c.1364C>T (p.Thr455Met) c.1304C>T (p.Thr435Met) n.3607-315G>A n.4043-315G>A c.1187C>T (p.Thr396Met) c.1205C>T (p.Thr402Met) c.962C>T (p.Thr321Met) c.995C>T (p.Thr332Met) c.1013C>T (p.Thr338Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428580G>A | CA1859505 | PROC | c.1020G>A (p.Thr340=) c.344G>A c.1122G>A (p.Thr374=) c.1203G>A (p.Thr401=) c.1185G>A (p.Thr395=) c.1083G>A (p.Thr361=) n.1332-316C>T c.1263G>A (p.Thr421=) c.1365G>A (p.Thr455=) c.1305G>A (p.Thr435=) n.3607-316C>T n.4043-316C>T c.1188G>A (p.Thr396=) c.1206G>A (p.Thr402=) c.963G>A (p.Thr321=) c.996G>A (p.Thr332=) c.1014G>A (p.Thr338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428580G>C | CA428871950 | PROC | c.1020G>C (p.Thr340=) c.344G>C c.1122G>C (p.Thr374=) c.1203G>C (p.Thr401=) c.1185G>C (p.Thr395=) c.1083G>C (p.Thr361=) n.1332-316C>G c.1263G>C (p.Thr421=) c.1365G>C (p.Thr455=) c.1305G>C (p.Thr435=) n.3607-316C>G n.4043-316C>G c.1188G>C (p.Thr396=) c.1206G>C (p.Thr402=) c.963G>C (p.Thr321=) c.996G>C (p.Thr332=) c.1014G>C (p.Thr338=) | |
2 | g.127428580G= | CA1286884535 | PROC | c.1020G= (p.Thr340=) c.344G= c.1122G= (p.Thr374=) c.1203G= (p.Thr401=) c.1185G= (p.Thr395=) c.1083G= (p.Thr361=) n.1332-316C= c.1263G= (p.Thr421=) c.1365G= (p.Thr455=) c.1305G= (p.Thr435=) n.3607-316C= n.4043-316C= c.1188G= (p.Thr396=) c.1206G= (p.Thr402=) c.963G= (p.Thr321=) c.996G= (p.Thr332=) c.1014G= (p.Thr338=) | |
2 | g.127428580G>T | CA428871952 | PROC | c.1020G>T (p.Thr340=) c.344G>T c.1122G>T (p.Thr374=) c.1203G>T (p.Thr401=) c.1185G>T (p.Thr395=) c.1083G>T (p.Thr361=) n.1332-316C>A c.1263G>T (p.Thr421=) c.1365G>T (p.Thr455=) c.1305G>T (p.Thr435=) n.3607-316C>A n.4043-316C>A c.1188G>T (p.Thr396=) c.1206G>T (p.Thr402=) c.963G>T (p.Thr321=) c.996G>T (p.Thr332=) c.1014G>T (p.Thr338=) | |
2 | g.127428581G>A | CA348405490 | PROC | c.1021G>A (p.Gly341Ser) c.345G>A c.1123G>A (p.Gly375Ser) c.1204G>A (p.Gly402Ser) c.1186G>A (p.Gly396Ser) c.1084G>A (p.Gly362Ser) n.1332-317C>T c.1264G>A (p.Gly422Ser) c.1366G>A (p.Gly456Ser) c.1306G>A (p.Gly436Ser) n.3607-317C>T n.4043-317C>T c.1189G>A (p.Gly397Ser) c.1207G>A (p.Gly403Ser) c.964G>A (p.Gly322Ser) c.997G>A (p.Gly333Ser) c.1015G>A (p.Gly339Ser) | COSMIC COSMIC |
2 | g.127428581G>C | CA348405493 | PROC | c.1021G>C (p.Gly341Arg) c.345G>C c.1123G>C (p.Gly375Arg) c.1204G>C (p.Gly402Arg) c.1186G>C (p.Gly396Arg) c.1084G>C (p.Gly362Arg) n.1332-317C>G c.1264G>C (p.Gly422Arg) c.1366G>C (p.Gly456Arg) c.1306G>C (p.Gly436Arg) n.3607-317C>G n.4043-317C>G c.1189G>C (p.Gly397Arg) c.1207G>C (p.Gly403Arg) c.964G>C (p.Gly322Arg) c.997G>C (p.Gly333Arg) c.1015G>C (p.Gly339Arg) | |
2 | g.127428581G>T | CA348405495 | PROC | c.1021G>T (p.Gly341Cys) c.345G>T c.1123G>T (p.Gly375Cys) c.1204G>T (p.Gly402Cys) c.1186G>T (p.Gly396Cys) c.1084G>T (p.Gly362Cys) n.1332-317C>A c.1264G>T (p.Gly422Cys) c.1366G>T (p.Gly456Cys) c.1306G>T (p.Gly436Cys) n.3607-317C>A n.4043-317C>A c.1189G>T (p.Gly397Cys) c.1207G>T (p.Gly403Cys) c.964G>T (p.Gly322Cys) c.997G>T (p.Gly333Cys) c.1015G>T (p.Gly339Cys) | |
2 | g.127428582G>A | CA348405498 | PROC | c.1022G>A (p.Gly341Asp) c.346G>A c.1124G>A (p.Gly375Asp) c.1205G>A (p.Gly402Asp) c.1187G>A (p.Gly396Asp) c.1085G>A (p.Gly362Asp) n.1332-318C>T c.1265G>A (p.Gly422Asp) c.1367G>A (p.Gly456Asp) c.1307G>A (p.Gly436Asp) n.3607-318C>T n.4043-318C>T c.1190G>A (p.Gly397Asp) c.1208G>A (p.Gly403Asp) c.965G>A (p.Gly322Asp) c.998G>A (p.Gly333Asp) c.1016G>A (p.Gly339Asp) | |
2 | g.127428582G>C | CA348405501 | PROC | c.1022G>C (p.Gly341Ala) c.346G>C c.1124G>C (p.Gly375Ala) c.1205G>C (p.Gly402Ala) c.1187G>C (p.Gly396Ala) c.1085G>C (p.Gly362Ala) n.1332-318C>G c.1265G>C (p.Gly422Ala) c.1367G>C (p.Gly456Ala) c.1307G>C (p.Gly436Ala) n.3607-318C>G n.4043-318C>G c.1190G>C (p.Gly397Ala) c.1208G>C (p.Gly403Ala) c.965G>C (p.Gly322Ala) c.998G>C (p.Gly333Ala) c.1016G>C (p.Gly339Ala) | |
2 | g.127428582G>T | CA348405502 | PROC | c.1022G>T (p.Gly341Val) c.346G>T c.1124G>T (p.Gly375Val) c.1205G>T (p.Gly402Val) c.1187G>T (p.Gly396Val) c.1085G>T (p.Gly362Val) n.1332-318C>A c.1265G>T (p.Gly422Val) c.1367G>T (p.Gly456Val) c.1307G>T (p.Gly436Val) n.3607-318C>A n.4043-318C>A c.1190G>T (p.Gly397Val) c.1208G>T (p.Gly403Val) c.965G>T (p.Gly322Val) c.998G>T (p.Gly333Val) c.1016G>T (p.Gly339Val) | |
2 | g.127428583C>A | CA428871963 | PROC | c.1023C>A (p.Gly341=) c.347C>A c.1125C>A (p.Gly375=) c.1206C>A (p.Gly402=) c.1188C>A (p.Gly396=) c.1086C>A (p.Gly362=) n.1332-319G>T c.1266C>A (p.Gly422=) c.1368C>A (p.Gly456=) c.1308C>A (p.Gly436=) n.3607-319G>T n.4043-319G>T c.1191C>A (p.Gly397=) c.1209C>A (p.Gly403=) c.966C>A (p.Gly322=) c.999C>A (p.Gly333=) c.1017C>A (p.Gly339=) | |
2 | g.127428583C= | CA1286884536 | PROC | c.1023C= (p.Gly341=) c.347C= c.1125C= (p.Gly375=) c.1206C= (p.Gly402=) c.1188C= (p.Gly396=) c.1086C= (p.Gly362=) n.1332-319G= c.1266C= (p.Gly422=) c.1368C= (p.Gly456=) c.1308C= (p.Gly436=) n.3607-319G= n.4043-319G= c.1191C= (p.Gly397=) c.1209C= (p.Gly403=) c.966C= (p.Gly322=) c.999C= (p.Gly333=) c.1017C= (p.Gly339=) | |
2 | g.127428583C>G | CA428871965 | PROC | c.1023C>G (p.Gly341=) c.347C>G c.1125C>G (p.Gly375=) c.1206C>G (p.Gly402=) c.1188C>G (p.Gly396=) c.1086C>G (p.Gly362=) n.1332-319G>C c.1266C>G (p.Gly422=) c.1368C>G (p.Gly456=) c.1308C>G (p.Gly436=) n.3607-319G>C n.4043-319G>C c.1191C>G (p.Gly397=) c.1209C>G (p.Gly403=) c.966C>G (p.Gly322=) c.999C>G (p.Gly333=) c.1017C>G (p.Gly339=) | |
2 | g.127428583C>T | CA1859506 | PROC | c.1023C>T (p.Gly341=) c.347C>T c.1125C>T (p.Gly375=) c.1206C>T (p.Gly402=) c.1188C>T (p.Gly396=) c.1086C>T (p.Gly362=) n.1332-319G>A c.1266C>T (p.Gly422=) c.1368C>T (p.Gly456=) c.1308C>T (p.Gly436=) n.3607-319G>A n.4043-319G>A c.1191C>T (p.Gly397=) c.1209C>T (p.Gly403=) c.966C>T (p.Gly322=) c.999C>T (p.Gly333=) c.1017C>T (p.Gly339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428584T>A | CA348405505 | PROC | c.1024T>A (p.Trp342Arg) c.348T>A c.1126T>A (p.Trp376Arg) c.1207T>A (p.Trp403Arg) c.1189T>A (p.Trp397Arg) c.1087T>A (p.Trp363Arg) n.1332-320A>T c.1267T>A (p.Trp423Arg) c.1369T>A (p.Trp457Arg) c.1309T>A (p.Trp437Arg) n.3607-320A>T n.4043-320A>T c.1192T>A (p.Trp398Arg) c.1210T>A (p.Trp404Arg) c.967T>A (p.Trp323Arg) c.1000T>A (p.Trp334Arg) c.1018T>A (p.Trp340Arg) | |
2 | g.127428584T>C | CA348405507 | PROC | c.1024T>C (p.Trp342Arg) c.348T>C c.1126T>C (p.Trp376Arg) c.1207T>C (p.Trp403Arg) c.1189T>C (p.Trp397Arg) c.1087T>C (p.Trp363Arg) n.1332-320A>G c.1267T>C (p.Trp423Arg) c.1369T>C (p.Trp457Arg) c.1309T>C (p.Trp437Arg) n.3607-320A>G n.4043-320A>G c.1192T>C (p.Trp398Arg) c.1210T>C (p.Trp404Arg) c.967T>C (p.Trp323Arg) c.1000T>C (p.Trp334Arg) c.1018T>C (p.Trp340Arg) | ClinVar |
2 | g.127428584T>G | CA348405514 | PROC | c.1024T>G (p.Trp342Gly) c.348T>G c.1126T>G (p.Trp376Gly) c.1207T>G (p.Trp403Gly) c.1189T>G (p.Trp397Gly) c.1087T>G (p.Trp363Gly) n.1332-320A>C c.1267T>G (p.Trp423Gly) c.1369T>G (p.Trp457Gly) c.1309T>G (p.Trp437Gly) n.3607-320A>C n.4043-320A>C c.1192T>G (p.Trp398Gly) c.1210T>G (p.Trp404Gly) c.967T>G (p.Trp323Gly) c.1000T>G (p.Trp334Gly) c.1018T>G (p.Trp340Gly) | |
2 | g.127428585G>A | CA348405518 | PROC | c.1025G>A (p.Trp342Ter) c.349G>A c.1127G>A (p.Trp376Ter) c.1208G>A (p.Trp403Ter) c.1190G>A (p.Trp397Ter) c.1088G>A (p.Trp363Ter) n.1332-321C>T c.1268G>A (p.Trp423Ter) c.1370G>A (p.Trp457Ter) c.1310G>A (p.Trp437Ter) n.3607-321C>T n.4043-321C>T c.1193G>A (p.Trp398Ter) c.1211G>A (p.Trp404Ter) c.968G>A (p.Trp323Ter) c.1001G>A (p.Trp334Ter) c.1019G>A (p.Trp340Ter) | |
2 | g.127428585G>C | CA348405523 | PROC | c.1025G>C (p.Trp342Ser) c.349G>C c.1127G>C (p.Trp376Ser) c.1208G>C (p.Trp403Ser) c.1190G>C (p.Trp397Ser) c.1088G>C (p.Trp363Ser) n.1332-321C>G c.1268G>C (p.Trp423Ser) c.1370G>C (p.Trp457Ser) c.1310G>C (p.Trp437Ser) n.3607-321C>G n.4043-321C>G c.1193G>C (p.Trp398Ser) c.1211G>C (p.Trp404Ser) c.968G>C (p.Trp323Ser) c.1001G>C (p.Trp334Ser) c.1019G>C (p.Trp340Ser) | |
2 | g.127428585G>T | CA348405524 | PROC | c.1025G>T (p.Trp342Leu) c.349G>T c.1127G>T (p.Trp376Leu) c.1208G>T (p.Trp403Leu) c.1190G>T (p.Trp397Leu) c.1088G>T (p.Trp363Leu) n.1332-321C>A c.1268G>T (p.Trp423Leu) c.1370G>T (p.Trp457Leu) c.1310G>T (p.Trp437Leu) n.3607-321C>A n.4043-321C>A c.1193G>T (p.Trp398Leu) c.1211G>T (p.Trp404Leu) c.968G>T (p.Trp323Leu) c.1001G>T (p.Trp334Leu) c.1019G>T (p.Trp340Leu) | |
2 | g.127428588dup | CA2842965953 | PROC | c.1028dup (p.Tyr344LeufsTer29) c.352dup c.1130dup (p.Tyr378LeufsTer29) c.1211dup (p.Tyr405LeufsTer29) c.1193dup (p.Tyr399LeufsTer29) c.1091dup (p.Tyr365LeufsTer29) n.1332-321dup c.1271dup (p.Tyr425LeufsTer29) c.1373dup (p.Tyr459LeufsTer29) c.1313dup (p.Tyr439LeufsTer29) n.3607-321dup n.4043-321dup c.1196dup (p.Tyr400LeufsTer29) c.1214dup (p.Tyr406LeufsTer29) c.971dup (p.Tyr325LeufsTer29) c.1004dup (p.Tyr336LeufsTer29) c.1022dup (p.Tyr342LeufsTer29) | |
2 | g.127428588del | CA2586969914 | PROC | c.1028del (p.Gly343AlafsTer?) c.352del c.1130del (p.Gly377AlafsTer?) c.1211del (p.Gly404AlafsTer?) c.1193del (p.Gly398AlafsTer?) c.1091del (p.Gly364AlafsTer?) n.1332-321del c.1271del (p.Gly424AlafsTer?) c.1373del (p.Gly458AlafsTer?) c.1313del (p.Gly438AlafsTer?) n.3607-321del n.4043-321del c.1196del (p.Gly399AlafsTer?) c.1214del (p.Gly405AlafsTer?) c.971del (p.Gly324AlafsTer?) c.1004del (p.Gly335AlafsTer?) c.1022del (p.Gly341AlafsTer?) | dbSNP |
2 | g.127428586G>A | CA348405527 | PROC | c.1026G>A (p.Trp342Ter) c.350G>A c.1128G>A (p.Trp376Ter) c.1209G>A (p.Trp403Ter) c.1191G>A (p.Trp397Ter) c.1089G>A (p.Trp363Ter) n.1332-322C>T c.1269G>A (p.Trp423Ter) c.1371G>A (p.Trp457Ter) c.1311G>A (p.Trp437Ter) n.3607-322C>T n.4043-322C>T c.1194G>A (p.Trp398Ter) c.1212G>A (p.Trp404Ter) c.969G>A (p.Trp323Ter) c.1002G>A (p.Trp334Ter) c.1020G>A (p.Trp340Ter) | |
2 | g.127428586G>C | CA1859507 | PROC | c.1026G>C (p.Trp342Cys) c.350G>C c.1128G>C (p.Trp376Cys) c.1209G>C (p.Trp403Cys) c.1191G>C (p.Trp397Cys) c.1089G>C (p.Trp363Cys) n.1332-322C>G c.1269G>C (p.Trp423Cys) c.1371G>C (p.Trp457Cys) c.1311G>C (p.Trp437Cys) n.3607-322C>G n.4043-322C>G c.1194G>C (p.Trp398Cys) c.1212G>C (p.Trp404Cys) c.969G>C (p.Trp323Cys) c.1002G>C (p.Trp334Cys) c.1020G>C (p.Trp340Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428586G= | CA1286884537 | PROC | c.1026G= (p.Trp342=) c.350G= c.1128G= (p.Trp376=) c.1209G= (p.Trp403=) c.1191G= (p.Trp397=) c.1089G= (p.Trp363=) n.1332-322C= c.1269G= (p.Trp423=) c.1371G= (p.Trp457=) c.1311G= (p.Trp437=) n.3607-322C= n.4043-322C= c.1194G= (p.Trp398=) c.1212G= (p.Trp404=) c.969G= (p.Trp323=) c.1002G= (p.Trp334=) c.1020G= (p.Trp340=) | |
2 | g.127428586G>T | CA348405531 | PROC | c.1026G>T (p.Trp342Cys) c.350G>T c.1128G>T (p.Trp376Cys) c.1209G>T (p.Trp403Cys) c.1191G>T (p.Trp397Cys) c.1089G>T (p.Trp363Cys) n.1332-322C>A c.1269G>T (p.Trp423Cys) c.1371G>T (p.Trp457Cys) c.1311G>T (p.Trp437Cys) n.3607-322C>A n.4043-322C>A c.1194G>T (p.Trp398Cys) c.1212G>T (p.Trp404Cys) c.969G>T (p.Trp323Cys) c.1002G>T (p.Trp334Cys) c.1020G>T (p.Trp340Cys) | |
2 | g.127428587G>A | CA114399 | PROC | c.1027G>A (p.Gly343Ser) c.351G>A c.1129G>A (p.Gly377Ser) c.1210G>A (p.Gly404Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) n.1332-323C>T c.1270G>A (p.Gly424Ser) c.1372G>A (p.Gly458Ser) c.1312G>A (p.Gly438Ser) n.3607-323C>T n.4043-323C>T c.1195G>A (p.Gly399Ser) c.1213G>A (p.Gly405Ser) c.970G>A (p.Gly324Ser) c.1003G>A (p.Gly335Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
2 | g.127428587G>C | CA348405536 | PROC | c.1027G>C (p.Gly343Arg) c.351G>C c.1129G>C (p.Gly377Arg) c.1210G>C (p.Gly404Arg) c.1192G>C (p.Gly398Arg) c.1090G>C (p.Gly364Arg) n.1332-323C>G c.1270G>C (p.Gly424Arg) c.1372G>C (p.Gly458Arg) c.1312G>C (p.Gly438Arg) n.3607-323C>G n.4043-323C>G c.1195G>C (p.Gly399Arg) c.1213G>C (p.Gly405Arg) c.970G>C (p.Gly324Arg) c.1003G>C (p.Gly335Arg) c.1021G>C (p.Gly341Arg) | |
2 | g.127428587G= | CA1286884538 | PROC | c.1027G= (p.Gly343=) c.351G= c.1129G= (p.Gly377=) c.1210G= (p.Gly404=) c.1192G= (p.Gly398=) c.1090G= (p.Gly364=) n.1332-323C= c.1270G= (p.Gly424=) c.1372G= (p.Gly458=) c.1312G= (p.Gly438=) n.3607-323C= n.4043-323C= c.1195G= (p.Gly399=) c.1213G= (p.Gly405=) c.970G= (p.Gly324=) c.1003G= (p.Gly335=) c.1021G= (p.Gly341=) | |
2 | g.127428587G>T | CA348405538 | PROC | c.1027G>T (p.Gly343Cys) c.351G>T c.1129G>T (p.Gly377Cys) c.1210G>T (p.Gly404Cys) c.1192G>T (p.Gly398Cys) c.1090G>T (p.Gly364Cys) n.1332-323C>A c.1270G>T (p.Gly424Cys) c.1372G>T (p.Gly458Cys) c.1312G>T (p.Gly438Cys) n.3607-323C>A n.4043-323C>A c.1195G>T (p.Gly399Cys) c.1213G>T (p.Gly405Cys) c.970G>T (p.Gly324Cys) c.1003G>T (p.Gly335Cys) c.1021G>T (p.Gly341Cys) | |
2 | g.127428587_127428596delinsGGCTACCACA | CA1286884539 | PROC | c.1027_1036delinsGGCTACCACA (p.Gly343=) c.351_360delinsGGCTACCACA c.1129_1138delinsGGCTACCACA (p.Gly377=) c.1210_1219delinsGGCTACCACA (p.Gly404=) c.1192_1201delinsGGCTACCACA (p.Gly398=) c.1090_1099delinsGGCTACCACA (p.Gly364=) n.1332-332_1332-323delinsTGTGGTAGCC c.1270_1279delinsGGCTACCACA (p.Gly424=) c.1372_1381delinsGGCTACCACA (p.Gly458=) c.1312_1321delinsGGCTACCACA (p.Gly438=) n.3607-332_3607-323delinsTGTGGTAGCC n.4043-332_4043-323delinsTGTGGTAGCC c.1195_1204delinsGGCTACCACA (p.Gly399=) c.1213_1222delinsGGCTACCACA (p.Gly405=) c.970_979delinsGGCTACCACA (p.Gly324=) c.1003_1012delinsGGCTACCACA (p.Gly335=) c.1021_1030delinsGGCTACCACA (p.Gly341=) | |
2 | g.127428588G>A | CA348405547 | PROC | c.1028G>A (p.Gly343Asp) c.352G>A c.1130G>A (p.Gly377Asp) c.1211G>A (p.Gly404Asp) c.1193G>A (p.Gly398Asp) c.1091G>A (p.Gly364Asp) n.1332-324C>T c.1271G>A (p.Gly424Asp) c.1373G>A (p.Gly458Asp) c.1313G>A (p.Gly438Asp) n.3607-324C>T n.4043-324C>T c.1196G>A (p.Gly399Asp) c.1214G>A (p.Gly405Asp) c.971G>A (p.Gly324Asp) c.1004G>A (p.Gly335Asp) c.1022G>A (p.Gly341Asp) | gnomAD v4 |
2 | g.127428588G>C | CA348405546 | PROC | c.1028G>C (p.Gly343Ala) c.352G>C c.1130G>C (p.Gly377Ala) c.1211G>C (p.Gly404Ala) c.1193G>C (p.Gly398Ala) c.1091G>C (p.Gly364Ala) n.1332-324C>G c.1271G>C (p.Gly424Ala) c.1373G>C (p.Gly458Ala) c.1313G>C (p.Gly438Ala) n.3607-324C>G n.4043-324C>G c.1196G>C (p.Gly399Ala) c.1214G>C (p.Gly405Ala) c.971G>C (p.Gly324Ala) c.1004G>C (p.Gly335Ala) c.1022G>C (p.Gly341Ala) | |
2 | g.127428588G>T | CA348405543 | PROC | c.1028G>T (p.Gly343Val) c.352G>T c.1130G>T (p.Gly377Val) c.1211G>T (p.Gly404Val) c.1193G>T (p.Gly398Val) c.1091G>T (p.Gly364Val) n.1332-324C>A c.1271G>T (p.Gly424Val) c.1373G>T (p.Gly458Val) c.1313G>T (p.Gly438Val) n.3607-324C>A n.4043-324C>A c.1196G>T (p.Gly399Val) c.1214G>T (p.Gly405Val) c.971G>T (p.Gly324Val) c.1004G>T (p.Gly335Val) c.1022G>T (p.Gly341Val) | |
2 | g.127428590_127428598del | CA756630933 | PROC | c.1030_1038del (p.Tyr344_Ser346del) c.354_362del c.1132_1140del (p.Tyr378_Ser380del) c.1213_1221del (p.Tyr405_Ser407del) c.1195_1203del (p.Tyr399_Ser401del) c.1093_1101del (p.Tyr365_Ser367del) n.1332-332_1332-324del c.1273_1281del (p.Tyr425_Ser427del) c.1375_1383del (p.Tyr459_Ser461del) c.1315_1323del (p.Tyr439_Ser441del) n.3607-332_3607-324del n.4043-332_4043-324del c.1198_1206del (p.Tyr400_Ser402del) c.1216_1224del (p.Tyr406_Ser408del) c.973_981del (p.Tyr325_Ser327del) c.1006_1014del (p.Tyr336_Ser338del) c.1024_1032del (p.Tyr342_Ser344del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428589C>A | CA428871992 | PROC | c.1029C>A (p.Gly343=) c.353C>A c.1131C>A (p.Gly377=) c.1212C>A (p.Gly404=) c.1194C>A (p.Gly398=) c.1092C>A (p.Gly364=) n.1332-325G>T c.1272C>A (p.Gly424=) c.1374C>A (p.Gly458=) c.1314C>A (p.Gly438=) n.3607-325G>T n.4043-325G>T c.1197C>A (p.Gly399=) c.1215C>A (p.Gly405=) c.972C>A (p.Gly324=) c.1005C>A (p.Gly335=) c.1023C>A (p.Gly341=) | |
2 | g.127428589C>G | CA428871994 | PROC | c.1029C>G (p.Gly343=) c.353C>G c.1131C>G (p.Gly377=) c.1212C>G (p.Gly404=) c.1194C>G (p.Gly398=) c.1092C>G (p.Gly364=) n.1332-325G>C c.1272C>G (p.Gly424=) c.1374C>G (p.Gly458=) c.1314C>G (p.Gly438=) n.3607-325G>C n.4043-325G>C c.1197C>G (p.Gly399=) c.1215C>G (p.Gly405=) c.972C>G (p.Gly324=) c.1005C>G (p.Gly335=) c.1023C>G (p.Gly341=) | |
2 | g.127428589C>T | CA428871996 | PROC | c.1029C>T (p.Gly343=) c.353C>T c.1131C>T (p.Gly377=) c.1212C>T (p.Gly404=) c.1194C>T (p.Gly398=) c.1092C>T (p.Gly364=) n.1332-325G>A c.1272C>T (p.Gly424=) c.1374C>T (p.Gly458=) c.1314C>T (p.Gly438=) n.3607-325G>A n.4043-325G>A c.1197C>T (p.Gly399=) c.1215C>T (p.Gly405=) c.972C>T (p.Gly324=) c.1005C>T (p.Gly335=) c.1023C>T (p.Gly341=) | |
2 | g.127428590T>A | CA1859508 | PROC | c.1030T>A (p.Tyr344Asn) c.354T>A c.1132T>A (p.Tyr378Asn) c.1213T>A (p.Tyr405Asn) c.1195T>A (p.Tyr399Asn) c.1093T>A (p.Tyr365Asn) n.1332-326A>T c.1273T>A (p.Tyr425Asn) c.1375T>A (p.Tyr459Asn) c.1315T>A (p.Tyr439Asn) n.3607-326A>T n.4043-326A>T c.1198T>A (p.Tyr400Asn) c.1216T>A (p.Tyr406Asn) c.973T>A (p.Tyr325Asn) c.1006T>A (p.Tyr336Asn) c.1024T>A (p.Tyr342Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428590T>C | CA348405548 | PROC | c.1030T>C (p.Tyr344His) c.354T>C c.1132T>C (p.Tyr378His) c.1213T>C (p.Tyr405His) c.1195T>C (p.Tyr399His) c.1093T>C (p.Tyr365His) n.1332-326A>G c.1273T>C (p.Tyr425His) c.1375T>C (p.Tyr459His) c.1315T>C (p.Tyr439His) n.3607-326A>G n.4043-326A>G c.1198T>C (p.Tyr400His) c.1216T>C (p.Tyr406His) c.973T>C (p.Tyr325His) c.1006T>C (p.Tyr336His) c.1024T>C (p.Tyr342His) | gnomAD v4 |
2 | g.127428590T>G | CA348405549 | PROC | c.1030T>G (p.Tyr344Asp) c.354T>G c.1132T>G (p.Tyr378Asp) c.1213T>G (p.Tyr405Asp) c.1195T>G (p.Tyr399Asp) c.1093T>G (p.Tyr365Asp) n.1332-326A>C c.1273T>G (p.Tyr425Asp) c.1375T>G (p.Tyr459Asp) c.1315T>G (p.Tyr439Asp) n.3607-326A>C n.4043-326A>C c.1198T>G (p.Tyr400Asp) c.1216T>G (p.Tyr406Asp) c.973T>G (p.Tyr325Asp) c.1006T>G (p.Tyr336Asp) c.1024T>G (p.Tyr342Asp) | |
2 | g.127428590T= | CA1286884540 | PROC | c.1030T= (p.Tyr344=) c.354T= c.1132T= (p.Tyr378=) c.1213T= (p.Tyr405=) c.1195T= (p.Tyr399=) c.1093T= (p.Tyr365=) n.1332-326A= c.1273T= (p.Tyr425=) c.1375T= (p.Tyr459=) c.1315T= (p.Tyr439=) n.3607-326A= n.4043-326A= c.1198T= (p.Tyr400=) c.1216T= (p.Tyr406=) c.973T= (p.Tyr325=) c.1006T= (p.Tyr336=) c.1024T= (p.Tyr342=) | |
2 | g.127428591A= | CA1286884541 | PROC | c.1031A= (p.Tyr344=) c.355A= c.1133A= (p.Tyr378=) c.1214A= (p.Tyr405=) c.1196A= (p.Tyr399=) c.1094A= (p.Tyr365=) n.1332-327T= c.1274A= (p.Tyr425=) c.1376A= (p.Tyr459=) c.1316A= (p.Tyr439=) n.3607-327T= n.4043-327T= c.1199A= (p.Tyr400=) c.1217A= (p.Tyr406=) c.974A= (p.Tyr325=) c.1007A= (p.Tyr336=) c.1025A= (p.Tyr342=) | |
2 | g.127428591A>C | CA348405551 | PROC | c.1031A>C (p.Tyr344Ser) c.355A>C c.1133A>C (p.Tyr378Ser) c.1214A>C (p.Tyr405Ser) c.1196A>C (p.Tyr399Ser) c.1094A>C (p.Tyr365Ser) n.1332-327T>G c.1274A>C (p.Tyr425Ser) c.1376A>C (p.Tyr459Ser) c.1316A>C (p.Tyr439Ser) n.3607-327T>G n.4043-327T>G c.1199A>C (p.Tyr400Ser) c.1217A>C (p.Tyr406Ser) c.974A>C (p.Tyr325Ser) c.1007A>C (p.Tyr336Ser) c.1025A>C (p.Tyr342Ser) | |
2 | g.127428591A>G | CA348405555 | PROC | c.1031A>G (p.Tyr344Cys) c.355A>G c.1133A>G (p.Tyr378Cys) c.1214A>G (p.Tyr405Cys) c.1196A>G (p.Tyr399Cys) c.1094A>G (p.Tyr365Cys) n.1332-327T>C c.1274A>G (p.Tyr425Cys) c.1376A>G (p.Tyr459Cys) c.1316A>G (p.Tyr439Cys) n.3607-327T>C n.4043-327T>C c.1199A>G (p.Tyr400Cys) c.1217A>G (p.Tyr406Cys) c.974A>G (p.Tyr325Cys) c.1007A>G (p.Tyr336Cys) c.1025A>G (p.Tyr342Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428591A>T | CA348405552 | PROC | c.1031A>T (p.Tyr344Phe) c.355A>T c.1133A>T (p.Tyr378Phe) c.1214A>T (p.Tyr405Phe) c.1196A>T (p.Tyr399Phe) c.1094A>T (p.Tyr365Phe) n.1332-327T>A c.1274A>T (p.Tyr425Phe) c.1376A>T (p.Tyr459Phe) c.1316A>T (p.Tyr439Phe) n.3607-327T>A n.4043-327T>A c.1199A>T (p.Tyr400Phe) c.1217A>T (p.Tyr406Phe) c.974A>T (p.Tyr325Phe) c.1007A>T (p.Tyr336Phe) c.1025A>T (p.Tyr342Phe) | |
2 | g.127428592C>A | CA348405557 | PROC | c.1032C>A (p.Tyr344Ter) c.356C>A c.1134C>A (p.Tyr378Ter) c.1215C>A (p.Tyr405Ter) c.1197C>A (p.Tyr399Ter) c.1095C>A (p.Tyr365Ter) n.1332-328G>T c.1275C>A (p.Tyr425Ter) c.1377C>A (p.Tyr459Ter) c.1317C>A (p.Tyr439Ter) n.3607-328G>T n.4043-328G>T c.1200C>A (p.Tyr400Ter) c.1218C>A (p.Tyr406Ter) c.975C>A (p.Tyr325Ter) c.1008C>A (p.Tyr336Ter) c.1026C>A (p.Tyr342Ter) | |
2 | g.127428592C>G | CA348405559 | PROC | c.1032C>G (p.Tyr344Ter) c.356C>G c.1134C>G (p.Tyr378Ter) c.1215C>G (p.Tyr405Ter) c.1197C>G (p.Tyr399Ter) c.1095C>G (p.Tyr365Ter) n.1332-328G>C c.1275C>G (p.Tyr425Ter) c.1377C>G (p.Tyr459Ter) c.1317C>G (p.Tyr439Ter) n.3607-328G>C n.4043-328G>C c.1200C>G (p.Tyr400Ter) c.1218C>G (p.Tyr406Ter) c.975C>G (p.Tyr325Ter) c.1008C>G (p.Tyr336Ter) c.1026C>G (p.Tyr342Ter) | |
2 | g.127428592C>T | CA428872010 | PROC | c.1032C>T (p.Tyr344=) c.356C>T c.1134C>T (p.Tyr378=) c.1215C>T (p.Tyr405=) c.1197C>T (p.Tyr399=) c.1095C>T (p.Tyr365=) n.1332-328G>A c.1275C>T (p.Tyr425=) c.1377C>T (p.Tyr459=) c.1317C>T (p.Tyr439=) n.3607-328G>A n.4043-328G>A c.1200C>T (p.Tyr400=) c.1218C>T (p.Tyr406=) c.975C>T (p.Tyr325=) c.1008C>T (p.Tyr336=) c.1026C>T (p.Tyr342=) | gnomAD v4 COSMIC COSMIC |
2 | g.127428593C>A | CA348405562 | PROC | c.1033C>A (p.His345Asn) c.357C>A c.1135C>A (p.His379Asn) c.1216C>A (p.His406Asn) c.1198C>A (p.His400Asn) c.1096C>A (p.His366Asn) n.1332-329G>T c.1276C>A (p.His426Asn) c.1378C>A (p.His460Asn) c.1318C>A (p.His440Asn) n.3607-329G>T n.4043-329G>T c.1201C>A (p.His401Asn) c.1219C>A (p.His407Asn) c.976C>A (p.His326Asn) c.1009C>A (p.His337Asn) c.1027C>A (p.His343Asn) | |
2 | g.127428593C>G | CA348405564 | PROC | c.1033C>G (p.His345Asp) c.357C>G c.1135C>G (p.His379Asp) c.1216C>G (p.His406Asp) c.1198C>G (p.His400Asp) c.1096C>G (p.His366Asp) n.1332-329G>C c.1276C>G (p.His426Asp) c.1378C>G (p.His460Asp) c.1318C>G (p.His440Asp) n.3607-329G>C n.4043-329G>C c.1201C>G (p.His401Asp) c.1219C>G (p.His407Asp) c.976C>G (p.His326Asp) c.1009C>G (p.His337Asp) c.1027C>G (p.His343Asp) | COSMIC COSMIC |
2 | g.127428593C>T | CA348405569 | PROC | c.1033C>T (p.His345Tyr) c.357C>T c.1135C>T (p.His379Tyr) c.1216C>T (p.His406Tyr) c.1198C>T (p.His400Tyr) c.1096C>T (p.His366Tyr) n.1332-329G>A c.1276C>T (p.His426Tyr) c.1378C>T (p.His460Tyr) c.1318C>T (p.His440Tyr) n.3607-329G>A n.4043-329G>A c.1201C>T (p.His401Tyr) c.1219C>T (p.His407Tyr) c.976C>T (p.His326Tyr) c.1009C>T (p.His337Tyr) c.1027C>T (p.His343Tyr) | |
2 | g.127428594A>C | CA348405571 | PROC | c.1034A>C (p.His345Pro) c.358A>C c.1136A>C (p.His379Pro) c.1217A>C (p.His406Pro) c.1199A>C (p.His400Pro) c.1097A>C (p.His366Pro) n.1332-330T>G c.1277A>C (p.His426Pro) c.1379A>C (p.His460Pro) c.1319A>C (p.His440Pro) n.3607-330T>G n.4043-330T>G c.1202A>C (p.His401Pro) c.1220A>C (p.His407Pro) c.977A>C (p.His326Pro) c.1010A>C (p.His337Pro) c.1028A>C (p.His343Pro) | |
2 | g.127428594A>G | CA348405573 | PROC | c.1034A>G (p.His345Arg) c.358A>G c.1136A>G (p.His379Arg) c.1217A>G (p.His406Arg) c.1199A>G (p.His400Arg) c.1097A>G (p.His366Arg) n.1332-330T>C c.1277A>G (p.His426Arg) c.1379A>G (p.His460Arg) c.1319A>G (p.His440Arg) n.3607-330T>C n.4043-330T>C c.1202A>G (p.His401Arg) c.1220A>G (p.His407Arg) c.977A>G (p.His326Arg) c.1010A>G (p.His337Arg) c.1028A>G (p.His343Arg) | |
2 | g.127428594A>T | CA348405575 | PROC | c.1034A>T (p.His345Leu) c.358A>T c.1136A>T (p.His379Leu) c.1217A>T (p.His406Leu) c.1199A>T (p.His400Leu) c.1097A>T (p.His366Leu) n.1332-330T>A c.1277A>T (p.His426Leu) c.1379A>T (p.His460Leu) c.1319A>T (p.His440Leu) n.3607-330T>A n.4043-330T>A c.1202A>T (p.His401Leu) c.1220A>T (p.His407Leu) c.977A>T (p.His326Leu) c.1010A>T (p.His337Leu) c.1028A>T (p.His343Leu) | |
2 | g.127428595C>A | CA348405577 | PROC | c.1035C>A (p.His345Gln) c.359C>A c.1137C>A (p.His379Gln) c.1218C>A (p.His406Gln) c.1200C>A (p.His400Gln) c.1098C>A (p.His366Gln) n.1332-331G>T c.1278C>A (p.His426Gln) c.1380C>A (p.His460Gln) c.1320C>A (p.His440Gln) n.3607-331G>T n.4043-331G>T c.1203C>A (p.His401Gln) c.1221C>A (p.His407Gln) c.978C>A (p.His326Gln) c.1011C>A (p.His337Gln) c.1029C>A (p.His343Gln) | COSMIC |
2 | g.127428595C= | CA1286884542 | PROC | c.1035C= (p.His345=) c.359C= c.1137C= (p.His379=) c.1218C= (p.His406=) c.1200C= (p.His400=) c.1098C= (p.His366=) n.1332-331G= c.1278C= (p.His426=) c.1380C= (p.His460=) c.1320C= (p.His440=) n.3607-331G= n.4043-331G= c.1203C= (p.His401=) c.1221C= (p.His407=) c.978C= (p.His326=) c.1011C= (p.His337=) c.1029C= (p.His343=) | |
2 | g.127428595C>G | CA55350962 | PROC | c.1035C>G (p.His345Gln) c.359C>G c.1137C>G (p.His379Gln) c.1218C>G (p.His406Gln) c.1200C>G (p.His400Gln) c.1098C>G (p.His366Gln) n.1332-331G>C c.1278C>G (p.His426Gln) c.1380C>G (p.His460Gln) c.1320C>G (p.His440Gln) n.3607-331G>C n.4043-331G>C c.1203C>G (p.His401Gln) c.1221C>G (p.His407Gln) c.978C>G (p.His326Gln) c.1011C>G (p.His337Gln) c.1029C>G (p.His343Gln) | dbSNP |
2 | g.127428595C>T | CA428872022 | PROC | c.1035C>T (p.His345=) c.359C>T c.1137C>T (p.His379=) c.1218C>T (p.His406=) c.1200C>T (p.His400=) c.1098C>T (p.His366=) n.1332-331G>A c.1278C>T (p.His426=) c.1380C>T (p.His460=) c.1320C>T (p.His440=) n.3607-331G>A n.4043-331G>A c.1203C>T (p.His401=) c.1221C>T (p.His407=) c.978C>T (p.His326=) c.1011C>T (p.His337=) c.1029C>T (p.His343=) | |
2 | g.127428596A>C | CA348405581 | PROC | c.1036A>C (p.Ser346Arg) c.360A>C c.1138A>C (p.Ser380Arg) c.1219A>C (p.Ser407Arg) c.1201A>C (p.Ser401Arg) c.1099A>C (p.Ser367Arg) n.1332-332T>G c.1279A>C (p.Ser427Arg) c.1381A>C (p.Ser461Arg) c.1321A>C (p.Ser441Arg) n.3607-332T>G n.4043-332T>G c.1204A>C (p.Ser402Arg) c.1222A>C (p.Ser408Arg) c.979A>C (p.Ser327Arg) c.1012A>C (p.Ser338Arg) c.1030A>C (p.Ser344Arg) | |
2 | g.127428596A>G | CA348405583 | PROC | c.1036A>G (p.Ser346Gly) c.360A>G c.1138A>G (p.Ser380Gly) c.1219A>G (p.Ser407Gly) c.1201A>G (p.Ser401Gly) c.1099A>G (p.Ser367Gly) n.1332-332T>C c.1279A>G (p.Ser427Gly) c.1381A>G (p.Ser461Gly) c.1321A>G (p.Ser441Gly) n.3607-332T>C n.4043-332T>C c.1204A>G (p.Ser402Gly) c.1222A>G (p.Ser408Gly) c.979A>G (p.Ser327Gly) c.1012A>G (p.Ser338Gly) c.1030A>G (p.Ser344Gly) | |
2 | g.127428596A>T | CA348405585 | PROC | c.1036A>T (p.Ser346Cys) c.360A>T c.1138A>T (p.Ser380Cys) c.1219A>T (p.Ser407Cys) c.1201A>T (p.Ser401Cys) c.1099A>T (p.Ser367Cys) n.1332-332T>A c.1279A>T (p.Ser427Cys) c.1381A>T (p.Ser461Cys) c.1321A>T (p.Ser441Cys) n.3607-332T>A n.4043-332T>A c.1204A>T (p.Ser402Cys) c.1222A>T (p.Ser408Cys) c.979A>T (p.Ser327Cys) c.1012A>T (p.Ser338Cys) c.1030A>T (p.Ser344Cys) | |
2 | g.127428597G>A | CA348405588 | PROC | c.1037G>A (p.Ser346Asn) c.361G>A c.1139G>A (p.Ser380Asn) c.1220G>A (p.Ser407Asn) c.1202G>A (p.Ser401Asn) c.1100G>A (p.Ser367Asn) n.1332-333C>T c.1280G>A (p.Ser427Asn) c.1382G>A (p.Ser461Asn) c.1322G>A (p.Ser441Asn) n.3607-333C>T n.4043-333C>T c.1205G>A (p.Ser402Asn) c.1223G>A (p.Ser408Asn) c.980G>A (p.Ser327Asn) c.1013G>A (p.Ser338Asn) c.1031G>A (p.Ser344Asn) | |
2 | g.127428597G>C | CA348405592 | PROC | c.1037G>C (p.Ser346Thr) c.361G>C c.1139G>C (p.Ser380Thr) c.1220G>C (p.Ser407Thr) c.1202G>C (p.Ser401Thr) c.1100G>C (p.Ser367Thr) n.1332-333C>G c.1280G>C (p.Ser427Thr) c.1382G>C (p.Ser461Thr) c.1322G>C (p.Ser441Thr) n.3607-333C>G n.4043-333C>G c.1205G>C (p.Ser402Thr) c.1223G>C (p.Ser408Thr) c.980G>C (p.Ser327Thr) c.1013G>C (p.Ser338Thr) c.1031G>C (p.Ser344Thr) | |
2 | g.127428597G>T | CA348405590 | PROC | c.1037G>T (p.Ser346Ile) c.361G>T c.1139G>T (p.Ser380Ile) c.1220G>T (p.Ser407Ile) c.1202G>T (p.Ser401Ile) c.1100G>T (p.Ser367Ile) n.1332-333C>A c.1280G>T (p.Ser427Ile) c.1382G>T (p.Ser461Ile) c.1322G>T (p.Ser441Ile) n.3607-333C>A n.4043-333C>A c.1205G>T (p.Ser402Ile) c.1223G>T (p.Ser408Ile) c.980G>T (p.Ser327Ile) c.1013G>T (p.Ser338Ile) c.1031G>T (p.Ser344Ile) | |
2 | g.127428598C>A | CA348405595 | PROC | c.1038C>A (p.Ser346Arg) c.362C>A c.1140C>A (p.Ser380Arg) c.1221C>A (p.Ser407Arg) c.1203C>A (p.Ser401Arg) c.1101C>A (p.Ser367Arg) n.1332-334G>T c.1281C>A (p.Ser427Arg) c.1383C>A (p.Ser461Arg) c.1323C>A (p.Ser441Arg) n.3607-334G>T n.4043-334G>T c.1206C>A (p.Ser402Arg) c.1224C>A (p.Ser408Arg) c.981C>A (p.Ser327Arg) c.1014C>A (p.Ser338Arg) c.1032C>A (p.Ser344Arg) | |
2 | g.127428598C>G | CA348405596 | PROC | c.1038C>G (p.Ser346Arg) c.362C>G c.1140C>G (p.Ser380Arg) c.1221C>G (p.Ser407Arg) c.1203C>G (p.Ser401Arg) c.1101C>G (p.Ser367Arg) n.1332-334G>C c.1281C>G (p.Ser427Arg) c.1383C>G (p.Ser461Arg) c.1323C>G (p.Ser441Arg) n.3607-334G>C n.4043-334G>C c.1206C>G (p.Ser402Arg) c.1224C>G (p.Ser408Arg) c.981C>G (p.Ser327Arg) c.1014C>G (p.Ser338Arg) c.1032C>G (p.Ser344Arg) | |
2 | g.127428598C>T | CA428872035 | PROC | c.1038C>T (p.Ser346=) c.362C>T c.1140C>T (p.Ser380=) c.1221C>T (p.Ser407=) c.1203C>T (p.Ser401=) c.1101C>T (p.Ser367=) n.1332-334G>A c.1281C>T (p.Ser427=) c.1383C>T (p.Ser461=) c.1323C>T (p.Ser441=) n.3607-334G>A n.4043-334G>A c.1206C>T (p.Ser402=) c.1224C>T (p.Ser408=) c.981C>T (p.Ser327=) c.1014C>T (p.Ser338=) c.1032C>T (p.Ser344=) | |
2 | g.127428599A>C | CA348405599 | PROC | c.1039A>C (p.Ser347Arg) c.363A>C c.1141A>C (p.Ser381Arg) c.1222A>C (p.Ser408Arg) c.1204A>C (p.Ser402Arg) c.1102A>C (p.Ser368Arg) n.1332-335T>G c.1282A>C (p.Ser428Arg) c.1384A>C (p.Ser462Arg) c.1324A>C (p.Ser442Arg) n.3607-335T>G n.4043-335T>G c.1207A>C (p.Ser403Arg) c.1225A>C (p.Ser409Arg) c.982A>C (p.Ser328Arg) c.1015A>C (p.Ser339Arg) c.1033A>C (p.Ser345Arg) | |
2 | g.127428599A>G | CA348405601 | PROC | c.1039A>G (p.Ser347Gly) c.363A>G c.1141A>G (p.Ser381Gly) c.1222A>G (p.Ser408Gly) c.1204A>G (p.Ser402Gly) c.1102A>G (p.Ser368Gly) n.1332-335T>C c.1282A>G (p.Ser428Gly) c.1384A>G (p.Ser462Gly) c.1324A>G (p.Ser442Gly) n.3607-335T>C n.4043-335T>C c.1207A>G (p.Ser403Gly) c.1225A>G (p.Ser409Gly) c.982A>G (p.Ser328Gly) c.1015A>G (p.Ser339Gly) c.1033A>G (p.Ser345Gly) | gnomAD v4 |
2 | g.127428599A>T | CA348405603 | PROC | c.1039A>T (p.Ser347Cys) c.363A>T c.1141A>T (p.Ser381Cys) c.1222A>T (p.Ser408Cys) c.1204A>T (p.Ser402Cys) c.1102A>T (p.Ser368Cys) n.1332-335T>A c.1282A>T (p.Ser428Cys) c.1384A>T (p.Ser462Cys) c.1324A>T (p.Ser442Cys) n.3607-335T>A n.4043-335T>A c.1207A>T (p.Ser403Cys) c.1225A>T (p.Ser409Cys) c.982A>T (p.Ser328Cys) c.1015A>T (p.Ser339Cys) c.1033A>T (p.Ser345Cys) | |
2 | g.127428600G>A | CA348405605 | PROC | c.1040G>A (p.Ser347Asn) c.364G>A c.1142G>A (p.Ser381Asn) c.1223G>A (p.Ser408Asn) c.1205G>A (p.Ser402Asn) c.1103G>A (p.Ser368Asn) n.1332-336C>T c.1283G>A (p.Ser428Asn) c.1385G>A (p.Ser462Asn) c.1325G>A (p.Ser442Asn) n.3607-336C>T n.4043-336C>T c.1208G>A (p.Ser403Asn) c.1226G>A (p.Ser409Asn) c.983G>A (p.Ser328Asn) c.1016G>A (p.Ser339Asn) c.1034G>A (p.Ser345Asn) | |
2 | g.127428600G>C | CA348405606 | PROC | c.1040G>C (p.Ser347Thr) c.364G>C c.1142G>C (p.Ser381Thr) c.1223G>C (p.Ser408Thr) c.1205G>C (p.Ser402Thr) c.1103G>C (p.Ser368Thr) n.1332-336C>G c.1283G>C (p.Ser428Thr) c.1385G>C (p.Ser462Thr) c.1325G>C (p.Ser442Thr) n.3607-336C>G n.4043-336C>G c.1208G>C (p.Ser403Thr) c.1226G>C (p.Ser409Thr) c.983G>C (p.Ser328Thr) c.1016G>C (p.Ser339Thr) c.1034G>C (p.Ser345Thr) | |
2 | g.127428600G>T | CA348405609 | PROC | c.1040G>T (p.Ser347Ile) c.364G>T c.1142G>T (p.Ser381Ile) c.1223G>T (p.Ser408Ile) c.1205G>T (p.Ser402Ile) c.1103G>T (p.Ser368Ile) n.1332-336C>A c.1283G>T (p.Ser428Ile) c.1385G>T (p.Ser462Ile) c.1325G>T (p.Ser442Ile) n.3607-336C>A n.4043-336C>A c.1208G>T (p.Ser403Ile) c.1226G>T (p.Ser409Ile) c.983G>T (p.Ser328Ile) c.1016G>T (p.Ser339Ile) c.1034G>T (p.Ser345Ile) | |
2 | g.127428603_127428616dup | CA2660997781 | PROC | c.1043_1056dup (p.Lys353GlufsTer30) c.367_380dup c.1145_1158dup (p.Lys387GlufsTer30) c.1226_1239dup (p.Lys414GlufsTer30) c.1208_1221dup (p.Lys408GlufsTer30) c.1106_1119dup (p.Lys374GlufsTer30) n.1332-349_1332-336dup c.1286_1299dup (p.Lys434GlufsTer30) c.1388_1401dup (p.Lys468GlufsTer30) c.1328_1341dup (p.Lys448GlufsTer30) n.3607-349_3607-336dup n.4043-349_4043-336dup c.1211_1224dup (p.Lys409GlufsTer30) c.1229_1242dup (p.Lys415GlufsTer30) c.986_999dup (p.Lys334GlufsTer30) c.1019_1032dup (p.Lys345GlufsTer30) c.1037_1050dup (p.Lys351GlufsTer30) | gnomAD v4 |
2 | g.127428601C>A | CA348405611 | PROC | c.1041C>A (p.Ser347Arg) c.365C>A c.1143C>A (p.Ser381Arg) c.1224C>A (p.Ser408Arg) c.1206C>A (p.Ser402Arg) c.1104C>A (p.Ser368Arg) n.1332-337G>T c.1284C>A (p.Ser428Arg) c.1386C>A (p.Ser462Arg) c.1326C>A (p.Ser442Arg) n.3607-337G>T n.4043-337G>T c.1209C>A (p.Ser403Arg) c.1227C>A (p.Ser409Arg) c.984C>A (p.Ser328Arg) c.1017C>A (p.Ser339Arg) c.1035C>A (p.Ser345Arg) | COSMIC |
2 | g.127428601C>G | CA348405613 | PROC | c.1041C>G (p.Ser347Arg) c.365C>G c.1143C>G (p.Ser381Arg) c.1224C>G (p.Ser408Arg) c.1206C>G (p.Ser402Arg) c.1104C>G (p.Ser368Arg) n.1332-337G>C c.1284C>G (p.Ser428Arg) c.1386C>G (p.Ser462Arg) c.1326C>G (p.Ser442Arg) n.3607-337G>C n.4043-337G>C c.1209C>G (p.Ser403Arg) c.1227C>G (p.Ser409Arg) c.984C>G (p.Ser328Arg) c.1017C>G (p.Ser339Arg) c.1035C>G (p.Ser345Arg) | |
2 | g.127428601C>T | CA428872046 | PROC | c.1041C>T (p.Ser347=) c.365C>T c.1143C>T (p.Ser381=) c.1224C>T (p.Ser408=) c.1206C>T (p.Ser402=) c.1104C>T (p.Ser368=) n.1332-337G>A c.1284C>T (p.Ser428=) c.1386C>T (p.Ser462=) c.1326C>T (p.Ser442=) n.3607-337G>A n.4043-337G>A c.1209C>T (p.Ser403=) c.1227C>T (p.Ser409=) c.984C>T (p.Ser328=) c.1017C>T (p.Ser339=) c.1035C>T (p.Ser345=) | |
2 | g.127428602C>A | CA428872050 | PROC | c.1042C>A (p.Arg348=) c.366C>A c.1144C>A (p.Arg382=) c.1225C>A (p.Arg409=) c.1207C>A (p.Arg403=) c.1105C>A (p.Arg369=) n.1332-338G>T c.1285C>A (p.Arg429=) c.1387C>A (p.Arg463=) c.1327C>A (p.Arg443=) n.3607-338G>T n.4043-338G>T c.1210C>A (p.Arg404=) c.1228C>A (p.Arg410=) c.985C>A (p.Arg329=) c.1018C>A (p.Arg340=) c.1036C>A (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428602C= | CA1286884543 | PROC | c.1042C= (p.Arg348=) c.366C= c.1144C= (p.Arg382=) c.1225C= (p.Arg409=) c.1207C= (p.Arg403=) c.1105C= (p.Arg369=) n.1332-338G= c.1285C= (p.Arg429=) c.1387C= (p.Arg463=) c.1327C= (p.Arg443=) n.3607-338G= n.4043-338G= c.1210C= (p.Arg404=) c.1228C= (p.Arg410=) c.985C= (p.Arg329=) c.1018C= (p.Arg340=) c.1036C= (p.Arg346=) | |
2 | g.127428602C>G | CA348405616 | PROC | c.1042C>G (p.Arg348Gly) c.366C>G c.1144C>G (p.Arg382Gly) c.1225C>G (p.Arg409Gly) c.1207C>G (p.Arg403Gly) c.1105C>G (p.Arg369Gly) n.1332-338G>C c.1285C>G (p.Arg429Gly) c.1387C>G (p.Arg463Gly) c.1327C>G (p.Arg443Gly) n.3607-338G>C n.4043-338G>C c.1210C>G (p.Arg404Gly) c.1228C>G (p.Arg410Gly) c.985C>G (p.Arg329Gly) c.1018C>G (p.Arg340Gly) c.1036C>G (p.Arg346Gly) | |
2 | g.127428602C>T | CA114384 | PROC | c.1042C>T (p.Arg348Ter) c.366C>T c.1144C>T (p.Arg382Ter) c.1225C>T (p.Arg409Ter) c.1207C>T (p.Arg403Ter) c.1105C>T (p.Arg369Ter) n.1332-338G>A c.1285C>T (p.Arg429Ter) c.1387C>T (p.Arg463Ter) c.1327C>T (p.Arg443Ter) n.3607-338G>A n.4043-338G>A c.1210C>T (p.Arg404Ter) c.1228C>T (p.Arg410Ter) c.985C>T (p.Arg329Ter) c.1018C>T (p.Arg340Ter) c.1036C>T (p.Arg346Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428602_127428604delinsCGA | CA1286884544 | PROC | c.1042_1044delinsCGA (p.Arg348=) c.366_368delinsCGA c.1144_1146delinsCGA (p.Arg382=) c.1225_1227delinsCGA (p.Arg409=) c.1207_1209delinsCGA (p.Arg403=) c.1105_1107delinsCGA (p.Arg369=) n.1332-340_1332-338delinsTCG c.1285_1287delinsCGA (p.Arg429=) c.1387_1389delinsCGA (p.Arg463=) c.1327_1329delinsCGA (p.Arg443=) n.3607-340_3607-338delinsTCG n.4043-340_4043-338delinsTCG c.1210_1212delinsCGA (p.Arg404=) c.1228_1230delinsCGA (p.Arg410=) c.985_987delinsCGA (p.Arg329=) c.1018_1020delinsCGA (p.Arg340=) c.1036_1038delinsCGA (p.Arg346=) | |
2 | g.127428603G>A | CA1859509 | PROC | c.1043G>A (p.Arg348Gln) c.367G>A c.1145G>A (p.Arg382Gln) c.1226G>A (p.Arg409Gln) c.1208G>A (p.Arg403Gln) c.1106G>A (p.Arg369Gln) n.1332-339C>T c.1286G>A (p.Arg429Gln) c.1388G>A (p.Arg463Gln) c.1328G>A (p.Arg443Gln) n.3607-339C>T n.4043-339C>T c.1211G>A (p.Arg404Gln) c.1229G>A (p.Arg410Gln) c.986G>A (p.Arg329Gln) c.1019G>A (p.Arg340Gln) c.1037G>A (p.Arg346Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428603G>C | CA348405619 | PROC | c.1043G>C (p.Arg348Pro) c.367G>C c.1145G>C (p.Arg382Pro) c.1226G>C (p.Arg409Pro) c.1208G>C (p.Arg403Pro) c.1106G>C (p.Arg369Pro) n.1332-339C>G c.1286G>C (p.Arg429Pro) c.1388G>C (p.Arg463Pro) c.1328G>C (p.Arg443Pro) n.3607-339C>G n.4043-339C>G c.1211G>C (p.Arg404Pro) c.1229G>C (p.Arg410Pro) c.986G>C (p.Arg329Pro) c.1019G>C (p.Arg340Pro) c.1037G>C (p.Arg346Pro) | |
2 | g.127428603G= | CA1286884545 | PROC | c.1043G= (p.Arg348=) c.367G= c.1145G= (p.Arg382=) c.1226G= (p.Arg409=) c.1208G= (p.Arg403=) c.1106G= (p.Arg369=) n.1332-339C= c.1286G= (p.Arg429=) c.1388G= (p.Arg463=) c.1328G= (p.Arg443=) n.3607-339C= n.4043-339C= c.1211G= (p.Arg404=) c.1229G= (p.Arg410=) c.986G= (p.Arg329=) c.1019G= (p.Arg340=) c.1037G= (p.Arg346=) | |
2 | g.127428603G>T | CA348405621 | PROC | c.1043G>T (p.Arg348Leu) c.367G>T c.1145G>T (p.Arg382Leu) c.1226G>T (p.Arg409Leu) c.1208G>T (p.Arg403Leu) c.1106G>T (p.Arg369Leu) n.1332-339C>A c.1286G>T (p.Arg429Leu) c.1388G>T (p.Arg463Leu) c.1328G>T (p.Arg443Leu) n.3607-339C>A n.4043-339C>A c.1211G>T (p.Arg404Leu) c.1229G>T (p.Arg410Leu) c.986G>T (p.Arg329Leu) c.1019G>T (p.Arg340Leu) c.1037G>T (p.Arg346Leu) | |
2 | g.127428607_127428608del | CA536067712 | PROC | c.1047_1048del (p.Lys350GlyfsTer22) c.371_372del c.1149_1150del (p.Lys384GlyfsTer22) c.1230_1231del (p.Lys411GlyfsTer22) c.1212_1213del (p.Lys405GlyfsTer22) c.1110_1111del (p.Lys371GlyfsTer22) n.1332-340_1332-339del c.1290_1291del (p.Lys431GlyfsTer22) c.1392_1393del (p.Lys465GlyfsTer22) c.1332_1333del (p.Lys445GlyfsTer22) n.3607-340_3607-339del n.4043-340_4043-339del c.1215_1216del (p.Lys406GlyfsTer22) c.1233_1234del (p.Lys412GlyfsTer22) c.990_991del (p.Lys331GlyfsTer22) c.1023_1024del (p.Lys342GlyfsTer22) c.1041_1042del (p.Lys348GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428604A>C | CA428872060 | PROC | c.1044A>C (p.Arg348=) c.368A>C c.1146A>C (p.Arg382=) c.1227A>C (p.Arg409=) c.1209A>C (p.Arg403=) c.1107A>C (p.Arg369=) n.1332-340T>G c.1287A>C (p.Arg429=) c.1389A>C (p.Arg463=) c.1329A>C (p.Arg443=) n.3607-340T>G n.4043-340T>G c.1212A>C (p.Arg404=) c.1230A>C (p.Arg410=) c.987A>C (p.Arg329=) c.1020A>C (p.Arg340=) c.1038A>C (p.Arg346=) | |
2 | g.127428604A>G | CA428872062 | PROC | c.1044A>G (p.Arg348=) c.368A>G c.1146A>G (p.Arg382=) c.1227A>G (p.Arg409=) c.1209A>G (p.Arg403=) c.1107A>G (p.Arg369=) n.1332-340T>C c.1287A>G (p.Arg429=) c.1389A>G (p.Arg463=) c.1329A>G (p.Arg443=) n.3607-340T>C n.4043-340T>C c.1212A>G (p.Arg404=) c.1230A>G (p.Arg410=) c.987A>G (p.Arg329=) c.1020A>G (p.Arg340=) c.1038A>G (p.Arg346=) | gnomAD v4 |
2 | g.127428604A>T | CA428872064 | PROC | c.1044A>T (p.Arg348=) c.368A>T c.1146A>T (p.Arg382=) c.1227A>T (p.Arg409=) c.1209A>T (p.Arg403=) c.1107A>T (p.Arg369=) n.1332-340T>A c.1287A>T (p.Arg429=) c.1389A>T (p.Arg463=) c.1329A>T (p.Arg443=) n.3607-340T>A n.4043-340T>A c.1212A>T (p.Arg404=) c.1230A>T (p.Arg410=) c.987A>T (p.Arg329=) c.1020A>T (p.Arg340=) c.1038A>T (p.Arg346=) | |
2 | g.127428605G>A | CA348405624 | PROC | c.1045G>A (p.Glu349Lys) c.369G>A c.1147G>A (p.Glu383Lys) c.1228G>A (p.Glu410Lys) c.1210G>A (p.Glu404Lys) c.1108G>A (p.Glu370Lys) n.1332-341C>T c.1288G>A (p.Glu430Lys) c.1390G>A (p.Glu464Lys) c.1330G>A (p.Glu444Lys) n.3607-341C>T n.4043-341C>T c.1213G>A (p.Glu405Lys) c.1231G>A (p.Glu411Lys) c.988G>A (p.Glu330Lys) c.1021G>A (p.Glu341Lys) c.1039G>A (p.Glu347Lys) | |
2 | g.127428605G>C | CA348405625 | PROC | c.1045G>C (p.Glu349Gln) c.369G>C c.1147G>C (p.Glu383Gln) c.1228G>C (p.Glu410Gln) c.1210G>C (p.Glu404Gln) c.1108G>C (p.Glu370Gln) n.1332-341C>G c.1288G>C (p.Glu430Gln) c.1390G>C (p.Glu464Gln) c.1330G>C (p.Glu444Gln) n.3607-341C>G n.4043-341C>G c.1213G>C (p.Glu405Gln) c.1231G>C (p.Glu411Gln) c.988G>C (p.Glu330Gln) c.1021G>C (p.Glu341Gln) c.1039G>C (p.Glu347Gln) | |
2 | g.127428605G>T | CA348405626 | PROC | c.1045G>T (p.Glu349Ter) c.369G>T c.1147G>T (p.Glu383Ter) c.1228G>T (p.Glu410Ter) c.1210G>T (p.Glu404Ter) c.1108G>T (p.Glu370Ter) n.1332-341C>A c.1288G>T (p.Glu430Ter) c.1390G>T (p.Glu464Ter) c.1330G>T (p.Glu444Ter) n.3607-341C>A n.4043-341C>A c.1213G>T (p.Glu405Ter) c.1231G>T (p.Glu411Ter) c.988G>T (p.Glu330Ter) c.1021G>T (p.Glu341Ter) c.1039G>T (p.Glu347Ter) | |
2 | g.127428606A= | CA1286884546 | PROC | c.1046A= (p.Glu349=) c.370A= c.1148A= (p.Glu383=) c.1229A= (p.Glu410=) c.1211A= (p.Glu404=) c.1109A= (p.Glu370=) n.1332-342T= c.1289A= (p.Glu430=) c.1391A= (p.Glu464=) c.1331A= (p.Glu444=) n.3607-342T= n.4043-342T= c.1214A= (p.Glu405=) c.1232A= (p.Glu411=) c.989A= (p.Glu330=) c.1022A= (p.Glu341=) c.1040A= (p.Glu347=) | |
2 | g.127428606A>C | CA348405631 | PROC | c.1046A>C (p.Glu349Ala) c.370A>C c.1148A>C (p.Glu383Ala) c.1229A>C (p.Glu410Ala) c.1211A>C (p.Glu404Ala) c.1109A>C (p.Glu370Ala) n.1332-342T>G c.1289A>C (p.Glu430Ala) c.1391A>C (p.Glu464Ala) c.1331A>C (p.Glu444Ala) n.3607-342T>G n.4043-342T>G c.1214A>C (p.Glu405Ala) c.1232A>C (p.Glu411Ala) c.989A>C (p.Glu330Ala) c.1022A>C (p.Glu341Ala) c.1040A>C (p.Glu347Ala) | |
2 | g.127428606A>G | CA55350995 | PROC | c.1046A>G (p.Glu349Gly) c.370A>G c.1148A>G (p.Glu383Gly) c.1229A>G (p.Glu410Gly) c.1211A>G (p.Glu404Gly) c.1109A>G (p.Glu370Gly) n.1332-342T>C c.1289A>G (p.Glu430Gly) c.1391A>G (p.Glu464Gly) c.1331A>G (p.Glu444Gly) n.3607-342T>C n.4043-342T>C c.1214A>G (p.Glu405Gly) c.1232A>G (p.Glu411Gly) c.989A>G (p.Glu330Gly) c.1022A>G (p.Glu341Gly) c.1040A>G (p.Glu347Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428606A>T | CA348405630 | PROC | c.1046A>T (p.Glu349Val) c.370A>T c.1148A>T (p.Glu383Val) c.1229A>T (p.Glu410Val) c.1211A>T (p.Glu404Val) c.1109A>T (p.Glu370Val) n.1332-342T>A c.1289A>T (p.Glu430Val) c.1391A>T (p.Glu464Val) c.1331A>T (p.Glu444Val) n.3607-342T>A n.4043-342T>A c.1214A>T (p.Glu405Val) c.1232A>T (p.Glu411Val) c.989A>T (p.Glu330Val) c.1022A>T (p.Glu341Val) c.1040A>T (p.Glu347Val) | |
2 | g.127428607G>A | CA55351005 | PROC | c.1047G>A (p.Glu349=) c.371G>A c.1149G>A (p.Glu383=) c.1230G>A (p.Glu410=) c.1212G>A (p.Glu404=) c.1110G>A (p.Glu370=) n.1332-343C>T c.1290G>A (p.Glu430=) c.1392G>A (p.Glu464=) c.1332G>A (p.Glu444=) n.3607-343C>T n.4043-343C>T c.1215G>A (p.Glu405=) c.1233G>A (p.Glu411=) c.990G>A (p.Glu330=) c.1023G>A (p.Glu341=) c.1041G>A (p.Glu347=) | dbSNP gnomAD v4 |
2 | g.127428607G>C | CA1859510 | PROC | c.1047G>C (p.Glu349Asp) c.371G>C c.1149G>C (p.Glu383Asp) c.1230G>C (p.Glu410Asp) c.1212G>C (p.Glu404Asp) c.1110G>C (p.Glu370Asp) n.1332-343C>G c.1290G>C (p.Glu430Asp) c.1392G>C (p.Glu464Asp) c.1332G>C (p.Glu444Asp) n.3607-343C>G n.4043-343C>G c.1215G>C (p.Glu405Asp) c.1233G>C (p.Glu411Asp) c.990G>C (p.Glu330Asp) c.1023G>C (p.Glu341Asp) c.1041G>C (p.Glu347Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428607G= | CA1286884547 | PROC | c.1047G= (p.Glu349=) c.371G= c.1149G= (p.Glu383=) c.1230G= (p.Glu410=) c.1212G= (p.Glu404=) c.1110G= (p.Glu370=) n.1332-343C= c.1290G= (p.Glu430=) c.1392G= (p.Glu464=) c.1332G= (p.Glu444=) n.3607-343C= n.4043-343C= c.1215G= (p.Glu405=) c.1233G= (p.Glu411=) c.990G= (p.Glu330=) c.1023G= (p.Glu341=) c.1041G= (p.Glu347=) | |
2 | g.127428607G>T | CA348405633 | PROC | c.1047G>T (p.Glu349Asp) c.371G>T c.1149G>T (p.Glu383Asp) c.1230G>T (p.Glu410Asp) c.1212G>T (p.Glu404Asp) c.1110G>T (p.Glu370Asp) n.1332-343C>A c.1290G>T (p.Glu430Asp) c.1392G>T (p.Glu464Asp) c.1332G>T (p.Glu444Asp) n.3607-343C>A n.4043-343C>A c.1215G>T (p.Glu405Asp) c.1233G>T (p.Glu411Asp) c.990G>T (p.Glu330Asp) c.1023G>T (p.Glu341Asp) c.1041G>T (p.Glu347Asp) | |
2 | g.127428608A= | CA1286884548 | PROC | c.1048A= (p.Lys350=) c.372A= c.1150A= (p.Lys384=) c.1231A= (p.Lys411=) c.1213A= (p.Lys405=) c.1111A= (p.Lys371=) n.1332-344T= c.1291A= (p.Lys431=) c.1393A= (p.Lys465=) c.1333A= (p.Lys445=) n.3607-344T= n.4043-344T= c.1216A= (p.Lys406=) c.1234A= (p.Lys412=) c.991A= (p.Lys331=) c.1024A= (p.Lys342=) c.1042A= (p.Lys348=) | |
2 | g.127428608A>C | CA348405636 | PROC | c.1048A>C (p.Lys350Gln) c.372A>C c.1150A>C (p.Lys384Gln) c.1231A>C (p.Lys411Gln) c.1213A>C (p.Lys405Gln) c.1111A>C (p.Lys371Gln) n.1332-344T>G c.1291A>C (p.Lys431Gln) c.1393A>C (p.Lys465Gln) c.1333A>C (p.Lys445Gln) n.3607-344T>G n.4043-344T>G c.1216A>C (p.Lys406Gln) c.1234A>C (p.Lys412Gln) c.991A>C (p.Lys331Gln) c.1024A>C (p.Lys342Gln) c.1042A>C (p.Lys348Gln) | |
2 | g.127428608A>G | CA348405638 | PROC | c.1048A>G (p.Lys350Glu) c.372A>G c.1150A>G (p.Lys384Glu) c.1231A>G (p.Lys411Glu) c.1213A>G (p.Lys405Glu) c.1111A>G (p.Lys371Glu) n.1332-344T>C c.1291A>G (p.Lys431Glu) c.1393A>G (p.Lys465Glu) c.1333A>G (p.Lys445Glu) n.3607-344T>C n.4043-344T>C c.1216A>G (p.Lys406Glu) c.1234A>G (p.Lys412Glu) c.991A>G (p.Lys331Glu) c.1024A>G (p.Lys342Glu) c.1042A>G (p.Lys348Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.127428608A>T | CA348405639 | PROC | c.1048A>T (p.Lys350Ter) c.372A>T c.1150A>T (p.Lys384Ter) c.1231A>T (p.Lys411Ter) c.1213A>T (p.Lys405Ter) c.1111A>T (p.Lys371Ter) n.1332-344T>A c.1291A>T (p.Lys431Ter) c.1393A>T (p.Lys465Ter) c.1333A>T (p.Lys445Ter) n.3607-344T>A n.4043-344T>A c.1216A>T (p.Lys406Ter) c.1234A>T (p.Lys412Ter) c.991A>T (p.Lys331Ter) c.1024A>T (p.Lys342Ter) c.1042A>T (p.Lys348Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428609A= | CA1286884549 | PROC | c.1049A= (p.Lys350=) c.373A= c.1151A= (p.Lys384=) c.1232A= (p.Lys411=) c.1214A= (p.Lys405=) c.1112A= (p.Lys371=) n.1332-345T= c.1292A= (p.Lys431=) c.1394A= (p.Lys465=) c.1334A= (p.Lys445=) n.3607-345T= n.4043-345T= c.1217A= (p.Lys406=) c.1235A= (p.Lys412=) c.992A= (p.Lys331=) c.1025A= (p.Lys342=) c.1043A= (p.Lys348=) | |
2 | g.127428609A>C | CA55351006 | PROC | c.1049A>C (p.Lys350Thr) c.373A>C c.1151A>C (p.Lys384Thr) c.1232A>C (p.Lys411Thr) c.1214A>C (p.Lys405Thr) c.1112A>C (p.Lys371Thr) n.1332-345T>G c.1292A>C (p.Lys431Thr) c.1394A>C (p.Lys465Thr) c.1334A>C (p.Lys445Thr) n.3607-345T>G n.4043-345T>G c.1217A>C (p.Lys406Thr) c.1235A>C (p.Lys412Thr) c.992A>C (p.Lys331Thr) c.1025A>C (p.Lys342Thr) c.1043A>C (p.Lys348Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428609A>G | CA348405645 | PROC | c.1049A>G (p.Lys350Arg) c.373A>G c.1151A>G (p.Lys384Arg) c.1232A>G (p.Lys411Arg) c.1214A>G (p.Lys405Arg) c.1112A>G (p.Lys371Arg) n.1332-345T>C c.1292A>G (p.Lys431Arg) c.1394A>G (p.Lys465Arg) c.1334A>G (p.Lys445Arg) n.3607-345T>C n.4043-345T>C c.1217A>G (p.Lys406Arg) c.1235A>G (p.Lys412Arg) c.992A>G (p.Lys331Arg) c.1025A>G (p.Lys342Arg) c.1043A>G (p.Lys348Arg) | |
2 | g.127428609A>T | CA348405643 | PROC | c.1049A>T (p.Lys350Met) c.373A>T c.1151A>T (p.Lys384Met) c.1232A>T (p.Lys411Met) c.1214A>T (p.Lys405Met) c.1112A>T (p.Lys371Met) n.1332-345T>A c.1292A>T (p.Lys431Met) c.1394A>T (p.Lys465Met) c.1334A>T (p.Lys445Met) n.3607-345T>A n.4043-345T>A c.1217A>T (p.Lys406Met) c.1235A>T (p.Lys412Met) c.992A>T (p.Lys331Met) c.1025A>T (p.Lys342Met) c.1043A>T (p.Lys348Met) | |
2 | g.127428610G>A | CA1859511 | PROC | c.1050G>A (p.Lys350=) c.374G>A c.1152G>A (p.Lys384=) c.1233G>A (p.Lys411=) c.1215G>A (p.Lys405=) c.1113G>A (p.Lys371=) n.1332-346C>T c.1293G>A (p.Lys431=) c.1395G>A (p.Lys465=) c.1335G>A (p.Lys445=) n.3607-346C>T n.4043-346C>T c.1218G>A (p.Lys406=) c.1236G>A (p.Lys412=) c.993G>A (p.Lys331=) c.1026G>A (p.Lys342=) c.1044G>A (p.Lys348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428610G>C | CA348405648 | PROC | c.1050G>C (p.Lys350Asn) c.374G>C c.1152G>C (p.Lys384Asn) c.1233G>C (p.Lys411Asn) c.1215G>C (p.Lys405Asn) c.1113G>C (p.Lys371Asn) n.1332-346C>G c.1293G>C (p.Lys431Asn) c.1395G>C (p.Lys465Asn) c.1335G>C (p.Lys445Asn) n.3607-346C>G n.4043-346C>G c.1218G>C (p.Lys406Asn) c.1236G>C (p.Lys412Asn) c.993G>C (p.Lys331Asn) c.1026G>C (p.Lys342Asn) c.1044G>C (p.Lys348Asn) | |
2 | g.127428610G= | CA1286884550 | PROC | c.1050G= (p.Lys350=) c.374G= c.1152G= (p.Lys384=) c.1233G= (p.Lys411=) c.1215G= (p.Lys405=) c.1113G= (p.Lys371=) n.1332-346C= c.1293G= (p.Lys431=) c.1395G= (p.Lys465=) c.1335G= (p.Lys445=) n.3607-346C= n.4043-346C= c.1218G= (p.Lys406=) c.1236G= (p.Lys412=) c.993G= (p.Lys331=) c.1026G= (p.Lys342=) c.1044G= (p.Lys348=) | |
2 | g.127428610G>T | CA348405650 | PROC | c.1050G>T (p.Lys350Asn) c.374G>T c.1152G>T (p.Lys384Asn) c.1233G>T (p.Lys411Asn) c.1215G>T (p.Lys405Asn) c.1113G>T (p.Lys371Asn) n.1332-346C>A c.1293G>T (p.Lys431Asn) c.1395G>T (p.Lys465Asn) c.1335G>T (p.Lys445Asn) n.3607-346C>A n.4043-346C>A c.1218G>T (p.Lys406Asn) c.1236G>T (p.Lys412Asn) c.993G>T (p.Lys331Asn) c.1026G>T (p.Lys342Asn) c.1044G>T (p.Lys348Asn) | |
2 | g.127428611G>A | CA348405652 | PROC | c.1051G>A (p.Glu351Lys) c.375G>A c.1153G>A (p.Glu385Lys) c.1234G>A (p.Glu412Lys) c.1216G>A (p.Glu406Lys) c.1114G>A (p.Glu372Lys) n.1332-347C>T c.1294G>A (p.Glu432Lys) c.1396G>A (p.Glu466Lys) c.1336G>A (p.Glu446Lys) n.3607-347C>T n.4043-347C>T c.1219G>A (p.Glu407Lys) c.1237G>A (p.Glu413Lys) c.994G>A (p.Glu332Lys) c.1027G>A (p.Glu343Lys) c.1045G>A (p.Glu349Lys) | |
2 | g.127428611G>C | CA348405653 | PROC | c.1051G>C (p.Glu351Gln) c.375G>C c.1153G>C (p.Glu385Gln) c.1234G>C (p.Glu412Gln) c.1216G>C (p.Glu406Gln) c.1114G>C (p.Glu372Gln) n.1332-347C>G c.1294G>C (p.Glu432Gln) c.1396G>C (p.Glu466Gln) c.1336G>C (p.Glu446Gln) n.3607-347C>G n.4043-347C>G c.1219G>C (p.Glu407Gln) c.1237G>C (p.Glu413Gln) c.994G>C (p.Glu332Gln) c.1027G>C (p.Glu343Gln) c.1045G>C (p.Glu349Gln) | |
2 | g.127428611G>T | CA348405656 | PROC | c.1051G>T (p.Glu351Ter) c.375G>T c.1153G>T (p.Glu385Ter) c.1234G>T (p.Glu412Ter) c.1216G>T (p.Glu406Ter) c.1114G>T (p.Glu372Ter) n.1332-347C>A c.1294G>T (p.Glu432Ter) c.1396G>T (p.Glu466Ter) c.1336G>T (p.Glu446Ter) n.3607-347C>A n.4043-347C>A c.1219G>T (p.Glu407Ter) c.1237G>T (p.Glu413Ter) c.994G>T (p.Glu332Ter) c.1027G>T (p.Glu343Ter) c.1045G>T (p.Glu349Ter) | |
2 | g.127428612A= | CA1286884551 | PROC | c.1052A= (p.Glu351=) c.376A= c.1154A= (p.Glu385=) c.1235A= (p.Glu412=) c.1217A= (p.Glu406=) c.1115A= (p.Glu372=) n.1332-348T= c.1295A= (p.Glu432=) c.1397A= (p.Glu466=) c.1337A= (p.Glu446=) n.3607-348T= n.4043-348T= c.1220A= (p.Glu407=) c.1238A= (p.Glu413=) c.995A= (p.Glu332=) c.1028A= (p.Glu343=) c.1046A= (p.Glu349=) | |
2 | g.127428612A>C | CA348405658 | PROC | c.1052A>C (p.Glu351Ala) c.376A>C c.1154A>C (p.Glu385Ala) c.1235A>C (p.Glu412Ala) c.1217A>C (p.Glu406Ala) c.1115A>C (p.Glu372Ala) n.1332-348T>G c.1295A>C (p.Glu432Ala) c.1397A>C (p.Glu466Ala) c.1337A>C (p.Glu446Ala) n.3607-348T>G n.4043-348T>G c.1220A>C (p.Glu407Ala) c.1238A>C (p.Glu413Ala) c.995A>C (p.Glu332Ala) c.1028A>C (p.Glu343Ala) c.1046A>C (p.Glu349Ala) | dbSNP |
2 | g.127428612A>G | CA348405659 | PROC | c.1052A>G (p.Glu351Gly) c.376A>G c.1154A>G (p.Glu385Gly) c.1235A>G (p.Glu412Gly) c.1217A>G (p.Glu406Gly) c.1115A>G (p.Glu372Gly) n.1332-348T>C c.1295A>G (p.Glu432Gly) c.1397A>G (p.Glu466Gly) c.1337A>G (p.Glu446Gly) n.3607-348T>C n.4043-348T>C c.1220A>G (p.Glu407Gly) c.1238A>G (p.Glu413Gly) c.995A>G (p.Glu332Gly) c.1028A>G (p.Glu343Gly) c.1046A>G (p.Glu349Gly) | |
2 | g.127428612A>T | CA348405660 | PROC | c.1052A>T (p.Glu351Val) c.376A>T c.1154A>T (p.Glu385Val) c.1235A>T (p.Glu412Val) c.1217A>T (p.Glu406Val) c.1115A>T (p.Glu372Val) n.1332-348T>A c.1295A>T (p.Glu432Val) c.1397A>T (p.Glu466Val) c.1337A>T (p.Glu446Val) n.3607-348T>A n.4043-348T>A c.1220A>T (p.Glu407Val) c.1238A>T (p.Glu413Val) c.995A>T (p.Glu332Val) c.1028A>T (p.Glu343Val) c.1046A>T (p.Glu349Val) | |
2 | g.127428613G>A | CA428872906 | PROC | c.1053G>A (p.Glu351=) c.377G>A c.1155G>A (p.Glu385=) c.1236G>A (p.Glu412=) c.1218G>A (p.Glu406=) c.1116G>A (p.Glu372=) n.1332-349C>T c.1296G>A (p.Glu432=) c.1398G>A (p.Glu466=) c.1338G>A (p.Glu446=) n.3607-349C>T n.4043-349C>T c.1221G>A (p.Glu407=) c.1239G>A (p.Glu413=) c.996G>A (p.Glu332=) c.1029G>A (p.Glu343=) c.1047G>A (p.Glu349=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428613G>C | CA348405661 | PROC | c.1053G>C (p.Glu351Asp) c.377G>C c.1155G>C (p.Glu385Asp) c.1236G>C (p.Glu412Asp) c.1218G>C (p.Glu406Asp) c.1116G>C (p.Glu372Asp) n.1332-349C>G c.1296G>C (p.Glu432Asp) c.1398G>C (p.Glu466Asp) c.1338G>C (p.Glu446Asp) n.3607-349C>G n.4043-349C>G c.1221G>C (p.Glu407Asp) c.1239G>C (p.Glu413Asp) c.996G>C (p.Glu332Asp) c.1029G>C (p.Glu343Asp) c.1047G>C (p.Glu349Asp) | |
2 | g.127428613G= | CA1286884552 | PROC | c.1053G= (p.Glu351=) c.377G= c.1155G= (p.Glu385=) c.1236G= (p.Glu412=) c.1218G= (p.Glu406=) c.1116G= (p.Glu372=) n.1332-349C= c.1296G= (p.Glu432=) c.1398G= (p.Glu466=) c.1338G= (p.Glu446=) n.3607-349C= n.4043-349C= c.1221G= (p.Glu407=) c.1239G= (p.Glu413=) c.996G= (p.Glu332=) c.1029G= (p.Glu343=) c.1047G= (p.Glu349=) | |
2 | g.127428613G>T | CA348405662 | PROC | c.1053G>T (p.Glu351Asp) c.377G>T c.1155G>T (p.Glu385Asp) c.1236G>T (p.Glu412Asp) c.1218G>T (p.Glu406Asp) c.1116G>T (p.Glu372Asp) n.1332-349C>A c.1296G>T (p.Glu432Asp) c.1398G>T (p.Glu466Asp) c.1338G>T (p.Glu446Asp) n.3607-349C>A n.4043-349C>A c.1221G>T (p.Glu407Asp) c.1239G>T (p.Glu413Asp) c.996G>T (p.Glu332Asp) c.1029G>T (p.Glu343Asp) c.1047G>T (p.Glu349Asp) | |
2 | g.127428614G>A | CA348405664 | PROC | c.1054G>A (p.Ala352Thr) c.378G>A c.1156G>A (p.Ala386Thr) c.1237G>A (p.Ala413Thr) c.1219G>A (p.Ala407Thr) c.1117G>A (p.Ala373Thr) n.1332-350C>T c.1297G>A (p.Ala433Thr) c.1399G>A (p.Ala467Thr) c.1339G>A (p.Ala447Thr) n.3607-350C>T n.4043-350C>T c.1222G>A (p.Ala408Thr) c.1240G>A (p.Ala414Thr) c.997G>A (p.Ala333Thr) c.1030G>A (p.Ala344Thr) c.1048G>A (p.Ala350Thr) | |
2 | g.127428614G>C | CA55351014 | PROC | c.1054G>C (p.Ala352Pro) c.378G>C c.1156G>C (p.Ala386Pro) c.1237G>C (p.Ala413Pro) c.1219G>C (p.Ala407Pro) c.1117G>C (p.Ala373Pro) n.1332-350C>G c.1297G>C (p.Ala433Pro) c.1399G>C (p.Ala467Pro) c.1339G>C (p.Ala447Pro) n.3607-350C>G n.4043-350C>G c.1222G>C (p.Ala408Pro) c.1240G>C (p.Ala414Pro) c.997G>C (p.Ala333Pro) c.1030G>C (p.Ala344Pro) c.1048G>C (p.Ala350Pro) | dbSNP |
2 | g.127428614G= | CA1286884553 | PROC | c.1054G= (p.Ala352=) c.378G= c.1156G= (p.Ala386=) c.1237G= (p.Ala413=) c.1219G= (p.Ala407=) c.1117G= (p.Ala373=) n.1332-350C= c.1297G= (p.Ala433=) c.1399G= (p.Ala467=) c.1339G= (p.Ala447=) n.3607-350C= n.4043-350C= c.1222G= (p.Ala408=) c.1240G= (p.Ala414=) c.997G= (p.Ala333=) c.1030G= (p.Ala344=) c.1048G= (p.Ala350=) | |
2 | g.127428614G>T | CA348405663 | PROC | c.1054G>T (p.Ala352Ser) c.378G>T c.1156G>T (p.Ala386Ser) c.1237G>T (p.Ala413Ser) c.1219G>T (p.Ala407Ser) c.1117G>T (p.Ala373Ser) n.1332-350C>A c.1297G>T (p.Ala433Ser) c.1399G>T (p.Ala467Ser) c.1339G>T (p.Ala447Ser) n.3607-350C>A n.4043-350C>A c.1222G>T (p.Ala408Ser) c.1240G>T (p.Ala414Ser) c.997G>T (p.Ala333Ser) c.1030G>T (p.Ala344Ser) c.1048G>T (p.Ala350Ser) | |
2 | g.127428615C>A | CA348405665 | PROC | c.1055C>A (p.Ala352Asp) c.379C>A c.1157C>A (p.Ala386Asp) c.1238C>A (p.Ala413Asp) c.1220C>A (p.Ala407Asp) c.1118C>A (p.Ala373Asp) n.1332-351G>T c.1298C>A (p.Ala433Asp) c.1400C>A (p.Ala467Asp) c.1340C>A (p.Ala447Asp) n.3607-351G>T n.4043-351G>T c.1223C>A (p.Ala408Asp) c.1241C>A (p.Ala414Asp) c.998C>A (p.Ala333Asp) c.1031C>A (p.Ala344Asp) c.1049C>A (p.Ala350Asp) | |
2 | g.127428615C>G | CA348405666 | PROC | c.1055C>G (p.Ala352Gly) c.379C>G c.1157C>G (p.Ala386Gly) c.1238C>G (p.Ala413Gly) c.1220C>G (p.Ala407Gly) c.1118C>G (p.Ala373Gly) n.1332-351G>C c.1298C>G (p.Ala433Gly) c.1400C>G (p.Ala467Gly) c.1340C>G (p.Ala447Gly) n.3607-351G>C n.4043-351G>C c.1223C>G (p.Ala408Gly) c.1241C>G (p.Ala414Gly) c.998C>G (p.Ala333Gly) c.1031C>G (p.Ala344Gly) c.1049C>G (p.Ala350Gly) | |
2 | g.127428615C>T | CA348405667 | PROC | c.1055C>T (p.Ala352Val) c.379C>T c.1157C>T (p.Ala386Val) c.1238C>T (p.Ala413Val) c.1220C>T (p.Ala407Val) c.1118C>T (p.Ala373Val) n.1332-351G>A c.1298C>T (p.Ala433Val) c.1400C>T (p.Ala467Val) c.1340C>T (p.Ala447Val) n.3607-351G>A n.4043-351G>A c.1223C>T (p.Ala408Val) c.1241C>T (p.Ala414Val) c.998C>T (p.Ala333Val) c.1031C>T (p.Ala344Val) c.1049C>T (p.Ala350Val) | |
2 | g.127428616C>A | CA428872925 | PROC | c.1056C>A (p.Ala352=) c.380C>A c.1158C>A (p.Ala386=) c.1239C>A (p.Ala413=) c.1221C>A (p.Ala407=) c.1119C>A (p.Ala373=) n.1332-352G>T c.1299C>A (p.Ala433=) c.1401C>A (p.Ala467=) c.1341C>A (p.Ala447=) n.3607-352G>T n.4043-352G>T c.1224C>A (p.Ala408=) c.1242C>A (p.Ala414=) c.999C>A (p.Ala333=) c.1032C>A (p.Ala344=) c.1050C>A (p.Ala350=) | |
2 | g.127428616C>G | CA428872929 | PROC | c.1056C>G (p.Ala352=) c.380C>G c.1158C>G (p.Ala386=) c.1239C>G (p.Ala413=) c.1221C>G (p.Ala407=) c.1119C>G (p.Ala373=) n.1332-352G>C c.1299C>G (p.Ala433=) c.1401C>G (p.Ala467=) c.1341C>G (p.Ala447=) n.3607-352G>C n.4043-352G>C c.1224C>G (p.Ala408=) c.1242C>G (p.Ala414=) c.999C>G (p.Ala333=) c.1032C>G (p.Ala344=) c.1050C>G (p.Ala350=) | |
2 | g.127428616C>T | CA428872927 | PROC | c.1056C>T (p.Ala352=) c.380C>T c.1158C>T (p.Ala386=) c.1239C>T (p.Ala413=) c.1221C>T (p.Ala407=) c.1119C>T (p.Ala373=) n.1332-352G>A c.1299C>T (p.Ala433=) c.1401C>T (p.Ala467=) c.1341C>T (p.Ala447=) n.3607-352G>A n.4043-352G>A c.1224C>T (p.Ala408=) c.1242C>T (p.Ala414=) c.999C>T (p.Ala333=) c.1032C>T (p.Ala344=) c.1050C>T (p.Ala350=) | |
2 | g.127428617A>C | CA348405668 | PROC | c.1057A>C (p.Lys353Gln) c.381A>C c.1159A>C (p.Lys387Gln) c.1240A>C (p.Lys414Gln) c.1222A>C (p.Lys408Gln) c.1120A>C (p.Lys374Gln) n.1332-353T>G c.1300A>C (p.Lys434Gln) c.1402A>C (p.Lys468Gln) c.1342A>C (p.Lys448Gln) n.3607-353T>G n.4043-353T>G c.1225A>C (p.Lys409Gln) c.1243A>C (p.Lys415Gln) c.1000A>C (p.Lys334Gln) c.1033A>C (p.Lys345Gln) c.1051A>C (p.Lys351Gln) | |
2 | g.127428617A>G | CA348405669 | PROC | c.1057A>G (p.Lys353Glu) c.381A>G c.1159A>G (p.Lys387Glu) c.1240A>G (p.Lys414Glu) c.1222A>G (p.Lys408Glu) c.1120A>G (p.Lys374Glu) n.1332-353T>C c.1300A>G (p.Lys434Glu) c.1402A>G (p.Lys468Glu) c.1342A>G (p.Lys448Glu) n.3607-353T>C n.4043-353T>C c.1225A>G (p.Lys409Glu) c.1243A>G (p.Lys415Glu) c.1000A>G (p.Lys334Glu) c.1033A>G (p.Lys345Glu) c.1051A>G (p.Lys351Glu) | |
2 | g.127428617A>T | CA348405670 | PROC | c.1057A>T (p.Lys353Ter) c.381A>T c.1159A>T (p.Lys387Ter) c.1240A>T (p.Lys414Ter) c.1222A>T (p.Lys408Ter) c.1120A>T (p.Lys374Ter) n.1332-353T>A c.1300A>T (p.Lys434Ter) c.1402A>T (p.Lys468Ter) c.1342A>T (p.Lys448Ter) n.3607-353T>A n.4043-353T>A c.1225A>T (p.Lys409Ter) c.1243A>T (p.Lys415Ter) c.1000A>T (p.Lys334Ter) c.1033A>T (p.Lys345Ter) c.1051A>T (p.Lys351Ter) | |
2 | g.127428618A= | CA1286884554 | PROC | c.1058A= (p.Lys353=) c.382A= c.1160A= (p.Lys387=) c.1241A= (p.Lys414=) c.1223A= (p.Lys408=) c.1121A= (p.Lys374=) n.1332-354T= c.1301A= (p.Lys434=) c.1403A= (p.Lys468=) c.1343A= (p.Lys448=) n.3607-354T= n.4043-354T= c.1226A= (p.Lys409=) c.1244A= (p.Lys415=) c.1001A= (p.Lys334=) c.1034A= (p.Lys345=) c.1052A= (p.Lys351=) | |
2 | g.127428618A>C | CA348405671 | PROC | c.1058A>C (p.Lys353Thr) c.382A>C c.1160A>C (p.Lys387Thr) c.1241A>C (p.Lys414Thr) c.1223A>C (p.Lys408Thr) c.1121A>C (p.Lys374Thr) n.1332-354T>G c.1301A>C (p.Lys434Thr) c.1403A>C (p.Lys468Thr) c.1343A>C (p.Lys448Thr) n.3607-354T>G n.4043-354T>G c.1226A>C (p.Lys409Thr) c.1244A>C (p.Lys415Thr) c.1001A>C (p.Lys334Thr) c.1034A>C (p.Lys345Thr) c.1052A>C (p.Lys351Thr) | |
2 | g.127428618A>G | CA1859512 | PROC | c.1058A>G (p.Lys353Arg) c.382A>G c.1160A>G (p.Lys387Arg) c.1241A>G (p.Lys414Arg) c.1223A>G (p.Lys408Arg) c.1121A>G (p.Lys374Arg) n.1332-354T>C c.1301A>G (p.Lys434Arg) c.1403A>G (p.Lys468Arg) c.1343A>G (p.Lys448Arg) n.3607-354T>C n.4043-354T>C c.1226A>G (p.Lys409Arg) c.1244A>G (p.Lys415Arg) c.1001A>G (p.Lys334Arg) c.1034A>G (p.Lys345Arg) c.1052A>G (p.Lys351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428618A>T | CA348405672 | PROC | c.1058A>T (p.Lys353Met) c.382A>T c.1160A>T (p.Lys387Met) c.1241A>T (p.Lys414Met) c.1223A>T (p.Lys408Met) c.1121A>T (p.Lys374Met) n.1332-354T>A c.1301A>T (p.Lys434Met) c.1403A>T (p.Lys468Met) c.1343A>T (p.Lys448Met) n.3607-354T>A n.4043-354T>A c.1226A>T (p.Lys409Met) c.1244A>T (p.Lys415Met) c.1001A>T (p.Lys334Met) c.1034A>T (p.Lys345Met) c.1052A>T (p.Lys351Met) | |
2 | g.127428619G>A | CA428872940 | PROC | c.1059G>A (p.Lys353=) c.383G>A c.1161G>A (p.Lys387=) c.1242G>A (p.Lys414=) c.1224G>A (p.Lys408=) c.1122G>A (p.Lys374=) n.1332-355C>T c.1302G>A (p.Lys434=) c.1404G>A (p.Lys468=) c.1344G>A (p.Lys448=) n.3607-355C>T n.4043-355C>T c.1227G>A (p.Lys409=) c.1245G>A (p.Lys415=) c.1002G>A (p.Lys334=) c.1035G>A (p.Lys345=) c.1053G>A (p.Lys351=) | gnomAD v4 |
2 | g.127428619G>C | CA348405674 | PROC | c.1059G>C (p.Lys353Asn) c.383G>C c.1161G>C (p.Lys387Asn) c.1242G>C (p.Lys414Asn) c.1224G>C (p.Lys408Asn) c.1122G>C (p.Lys374Asn) n.1332-355C>G c.1302G>C (p.Lys434Asn) c.1404G>C (p.Lys468Asn) c.1344G>C (p.Lys448Asn) n.3607-355C>G n.4043-355C>G c.1227G>C (p.Lys409Asn) c.1245G>C (p.Lys415Asn) c.1002G>C (p.Lys334Asn) c.1035G>C (p.Lys345Asn) c.1053G>C (p.Lys351Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428619G= | CA1286884555 | PROC | c.1059G= (p.Lys353=) c.383G= c.1161G= (p.Lys387=) c.1242G= (p.Lys414=) c.1224G= (p.Lys408=) c.1122G= (p.Lys374=) n.1332-355C= c.1302G= (p.Lys434=) c.1404G= (p.Lys468=) c.1344G= (p.Lys448=) n.3607-355C= n.4043-355C= c.1227G= (p.Lys409=) c.1245G= (p.Lys415=) c.1002G= (p.Lys334=) c.1035G= (p.Lys345=) c.1053G= (p.Lys351=) | |
2 | g.127428619G>T | CA348405675 | PROC | c.1059G>T (p.Lys353Asn) c.383G>T c.1161G>T (p.Lys387Asn) c.1242G>T (p.Lys414Asn) c.1224G>T (p.Lys408Asn) c.1122G>T (p.Lys374Asn) n.1332-355C>A c.1302G>T (p.Lys434Asn) c.1404G>T (p.Lys468Asn) c.1344G>T (p.Lys448Asn) n.3607-355C>A n.4043-355C>A c.1227G>T (p.Lys409Asn) c.1245G>T (p.Lys415Asn) c.1002G>T (p.Lys334Asn) c.1035G>T (p.Lys345Asn) c.1053G>T (p.Lys351Asn) | gnomAD v4 |
2 | g.127428620A>C | CA428872942 | PROC | c.1060A>C (p.Arg354=) c.384A>C c.1162A>C (p.Arg388=) c.1243A>C (p.Arg415=) c.1225A>C (p.Arg409=) c.1123A>C (p.Arg375=) n.1332-356T>G c.1303A>C (p.Arg435=) c.1405A>C (p.Arg469=) c.1345A>C (p.Arg449=) n.3607-356T>G n.4043-356T>G c.1228A>C (p.Arg410=) c.1246A>C (p.Arg416=) c.1003A>C (p.Arg335=) c.1036A>C (p.Arg346=) c.1054A>C (p.Arg352=) | |
2 | g.127428620A>G | CA348405676 | PROC | c.1060A>G (p.Arg354Gly) c.384A>G c.1162A>G (p.Arg388Gly) c.1243A>G (p.Arg415Gly) c.1225A>G (p.Arg409Gly) c.1123A>G (p.Arg375Gly) n.1332-356T>C c.1303A>G (p.Arg435Gly) c.1405A>G (p.Arg469Gly) c.1345A>G (p.Arg449Gly) n.3607-356T>C n.4043-356T>C c.1228A>G (p.Arg410Gly) c.1246A>G (p.Arg416Gly) c.1003A>G (p.Arg335Gly) c.1036A>G (p.Arg346Gly) c.1054A>G (p.Arg352Gly) | |
2 | g.127428620A>T | CA348405677 | PROC | c.1060A>T (p.Arg354Ter) c.384A>T c.1162A>T (p.Arg388Ter) c.1243A>T (p.Arg415Ter) c.1225A>T (p.Arg409Ter) c.1123A>T (p.Arg375Ter) n.1332-356T>A c.1303A>T (p.Arg435Ter) c.1405A>T (p.Arg469Ter) c.1345A>T (p.Arg449Ter) n.3607-356T>A n.4043-356T>A c.1228A>T (p.Arg410Ter) c.1246A>T (p.Arg416Ter) c.1003A>T (p.Arg335Ter) c.1036A>T (p.Arg346Ter) c.1054A>T (p.Arg352Ter) | |
2 | g.127428621G>A | CA1859513 | PROC | c.1061G>A (p.Arg354Lys) c.385G>A c.1163G>A (p.Arg388Lys) c.1244G>A (p.Arg415Lys) c.1226G>A (p.Arg409Lys) c.1124G>A (p.Arg375Lys) n.1332-357C>T c.1304G>A (p.Arg435Lys) c.1406G>A (p.Arg469Lys) c.1346G>A (p.Arg449Lys) n.3607-357C>T n.4043-357C>T c.1229G>A (p.Arg410Lys) c.1247G>A (p.Arg416Lys) c.1004G>A (p.Arg335Lys) c.1037G>A (p.Arg346Lys) c.1055G>A (p.Arg352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.127428621G>C | CA348405679 | PROC | c.1061G>C (p.Arg354Thr) c.385G>C c.1163G>C (p.Arg388Thr) c.1244G>C (p.Arg415Thr) c.1226G>C (p.Arg409Thr) c.1124G>C (p.Arg375Thr) n.1332-357C>G c.1304G>C (p.Arg435Thr) c.1406G>C (p.Arg469Thr) c.1346G>C (p.Arg449Thr) n.3607-357C>G n.4043-357C>G c.1229G>C (p.Arg410Thr) c.1247G>C (p.Arg416Thr) c.1004G>C (p.Arg335Thr) c.1037G>C (p.Arg346Thr) c.1055G>C (p.Arg352Thr) | |
2 | g.127428621G= | CA1286884556 | PROC | c.1061G= (p.Arg354=) c.385G= c.1163G= (p.Arg388=) c.1244G= (p.Arg415=) c.1226G= (p.Arg409=) c.1124G= (p.Arg375=) n.1332-357C= c.1304G= (p.Arg435=) c.1406G= (p.Arg469=) c.1346G= (p.Arg449=) n.3607-357C= n.4043-357C= c.1229G= (p.Arg410=) c.1247G= (p.Arg416=) c.1004G= (p.Arg335=) c.1037G= (p.Arg346=) c.1055G= (p.Arg352=) | |
2 | g.127428621G>T | CA348405678 | PROC | c.1061G>T (p.Arg354Ile) c.385G>T c.1163G>T (p.Arg388Ile) c.1244G>T (p.Arg415Ile) c.1226G>T (p.Arg409Ile) c.1124G>T (p.Arg375Ile) n.1332-357C>A c.1304G>T (p.Arg435Ile) c.1406G>T (p.Arg469Ile) c.1346G>T (p.Arg449Ile) n.3607-357C>A n.4043-357C>A c.1229G>T (p.Arg410Ile) c.1247G>T (p.Arg416Ile) c.1004G>T (p.Arg335Ile) c.1037G>T (p.Arg346Ile) c.1055G>T (p.Arg352Ile) | |
2 | g.127428622A>C | CA348405680 | PROC | c.1062A>C (p.Arg354Ser) c.386A>C c.1164A>C (p.Arg388Ser) c.1245A>C (p.Arg415Ser) c.1227A>C (p.Arg409Ser) c.1125A>C (p.Arg375Ser) n.1332-358T>G c.1305A>C (p.Arg435Ser) c.1407A>C (p.Arg469Ser) c.1347A>C (p.Arg449Ser) n.3607-358T>G n.4043-358T>G c.1230A>C (p.Arg410Ser) c.1248A>C (p.Arg416Ser) c.1005A>C (p.Arg335Ser) c.1038A>C (p.Arg346Ser) c.1056A>C (p.Arg352Ser) | |
2 | g.127428622A>G | CA428872953 | PROC | c.1062A>G (p.Arg354=) c.386A>G c.1164A>G (p.Arg388=) c.1245A>G (p.Arg415=) c.1227A>G (p.Arg409=) c.1125A>G (p.Arg375=) n.1332-358T>C c.1305A>G (p.Arg435=) c.1407A>G (p.Arg469=) c.1347A>G (p.Arg449=) n.3607-358T>C n.4043-358T>C c.1230A>G (p.Arg410=) c.1248A>G (p.Arg416=) c.1005A>G (p.Arg335=) c.1038A>G (p.Arg346=) c.1056A>G (p.Arg352=) | |
2 | g.127428622A>T | CA348405681 | PROC | c.1062A>T (p.Arg354Ser) c.386A>T c.1164A>T (p.Arg388Ser) c.1245A>T (p.Arg415Ser) c.1227A>T (p.Arg409Ser) c.1125A>T (p.Arg375Ser) n.1332-358T>A c.1305A>T (p.Arg435Ser) c.1407A>T (p.Arg469Ser) c.1347A>T (p.Arg449Ser) n.3607-358T>A n.4043-358T>A c.1230A>T (p.Arg410Ser) c.1248A>T (p.Arg416Ser) c.1005A>T (p.Arg335Ser) c.1038A>T (p.Arg346Ser) c.1056A>T (p.Arg352Ser) | |
2 | g.127428623A>C | CA348405682 | PROC | c.1063A>C (p.Asn355His) c.387A>C c.1165A>C (p.Asn389His) c.1246A>C (p.Asn416His) c.1228A>C (p.Asn410His) c.1126A>C (p.Asn376His) n.1332-359T>G c.1306A>C (p.Asn436His) c.1408A>C (p.Asn470His) c.1348A>C (p.Asn450His) n.3607-359T>G n.4043-359T>G c.1231A>C (p.Asn411His) c.1249A>C (p.Asn417His) c.1006A>C (p.Asn336His) c.1039A>C (p.Asn347His) c.1057A>C (p.Asn353His) | |
2 | g.127428623A>G | CA348405683 | PROC | c.1063A>G (p.Asn355Asp) c.387A>G c.1165A>G (p.Asn389Asp) c.1246A>G (p.Asn416Asp) c.1228A>G (p.Asn410Asp) c.1126A>G (p.Asn376Asp) n.1332-359T>C c.1306A>G (p.Asn436Asp) c.1408A>G (p.Asn470Asp) c.1348A>G (p.Asn450Asp) n.3607-359T>C n.4043-359T>C c.1231A>G (p.Asn411Asp) c.1249A>G (p.Asn417Asp) c.1006A>G (p.Asn336Asp) c.1039A>G (p.Asn347Asp) c.1057A>G (p.Asn353Asp) | |
2 | g.127428623A>T | CA348405684 | PROC | c.1063A>T (p.Asn355Tyr) c.387A>T c.1165A>T (p.Asn389Tyr) c.1246A>T (p.Asn416Tyr) c.1228A>T (p.Asn410Tyr) c.1126A>T (p.Asn376Tyr) n.1332-359T>A c.1306A>T (p.Asn436Tyr) c.1408A>T (p.Asn470Tyr) c.1348A>T (p.Asn450Tyr) n.3607-359T>A n.4043-359T>A c.1231A>T (p.Asn411Tyr) c.1249A>T (p.Asn417Tyr) c.1006A>T (p.Asn336Tyr) c.1039A>T (p.Asn347Tyr) c.1057A>T (p.Asn353Tyr) | |
2 | g.127428624A>C | CA348405686 | PROC | c.1064A>C (p.Asn355Thr) c.388A>C c.1166A>C (p.Asn389Thr) c.1247A>C (p.Asn416Thr) c.1229A>C (p.Asn410Thr) c.1127A>C (p.Asn376Thr) n.1332-360T>G c.1307A>C (p.Asn436Thr) c.1409A>C (p.Asn470Thr) c.1349A>C (p.Asn450Thr) n.3607-360T>G n.4043-360T>G c.1232A>C (p.Asn411Thr) c.1250A>C (p.Asn417Thr) c.1007A>C (p.Asn336Thr) c.1040A>C (p.Asn347Thr) c.1058A>C (p.Asn353Thr) | |
2 | g.127428624A>G | CA348405687 | PROC | c.1064A>G (p.Asn355Ser) c.388A>G c.1166A>G (p.Asn389Ser) c.1247A>G (p.Asn416Ser) c.1229A>G (p.Asn410Ser) c.1127A>G (p.Asn376Ser) n.1332-360T>C c.1307A>G (p.Asn436Ser) c.1409A>G (p.Asn470Ser) c.1349A>G (p.Asn450Ser) n.3607-360T>C n.4043-360T>C c.1232A>G (p.Asn411Ser) c.1250A>G (p.Asn417Ser) c.1007A>G (p.Asn336Ser) c.1040A>G (p.Asn347Ser) c.1058A>G (p.Asn353Ser) | |
2 | g.127428624A>T | CA348405688 | PROC | c.1064A>T (p.Asn355Ile) c.388A>T c.1166A>T (p.Asn389Ile) c.1247A>T (p.Asn416Ile) c.1229A>T (p.Asn410Ile) c.1127A>T (p.Asn376Ile) n.1332-360T>A c.1307A>T (p.Asn436Ile) c.1409A>T (p.Asn470Ile) c.1349A>T (p.Asn450Ile) n.3607-360T>A n.4043-360T>A c.1232A>T (p.Asn411Ile) c.1250A>T (p.Asn417Ile) c.1007A>T (p.Asn336Ile) c.1040A>T (p.Asn347Ile) c.1058A>T (p.Asn353Ile) | |
2 | g.127428625C>A | CA348405689 | PROC | c.1065C>A (p.Asn355Lys) c.389C>A c.1167C>A (p.Asn389Lys) c.1248C>A (p.Asn416Lys) c.1230C>A (p.Asn410Lys) c.1128C>A (p.Asn376Lys) n.1332-361G>T c.1308C>A (p.Asn436Lys) c.1410C>A (p.Asn470Lys) c.1350C>A (p.Asn450Lys) n.3607-361G>T n.4043-361G>T c.1233C>A (p.Asn411Lys) c.1251C>A (p.Asn417Lys) c.1008C>A (p.Asn336Lys) c.1041C>A (p.Asn347Lys) c.1059C>A (p.Asn353Lys) | |
2 | g.127428625C= | CA1286884557 | PROC | c.1065C= (p.Asn355=) c.389C= c.1167C= (p.Asn389=) c.1248C= (p.Asn416=) c.1230C= (p.Asn410=) c.1128C= (p.Asn376=) n.1332-361G= c.1308C= (p.Asn436=) c.1410C= (p.Asn470=) c.1350C= (p.Asn450=) n.3607-361G= n.4043-361G= c.1233C= (p.Asn411=) c.1251C= (p.Asn417=) c.1008C= (p.Asn336=) c.1041C= (p.Asn347=) c.1059C= (p.Asn353=) | |
2 | g.127428625C>G | CA348405690 | PROC | c.1065C>G (p.Asn355Lys) c.389C>G c.1167C>G (p.Asn389Lys) c.1248C>G (p.Asn416Lys) c.1230C>G (p.Asn410Lys) c.1128C>G (p.Asn376Lys) n.1332-361G>C c.1308C>G (p.Asn436Lys) c.1410C>G (p.Asn470Lys) c.1350C>G (p.Asn450Lys) n.3607-361G>C n.4043-361G>C c.1233C>G (p.Asn411Lys) c.1251C>G (p.Asn417Lys) c.1008C>G (p.Asn336Lys) c.1041C>G (p.Asn347Lys) c.1059C>G (p.Asn353Lys) | |
2 | g.127428625C>T | CA1859514 | PROC | c.1065C>T (p.Asn355=) c.389C>T c.1167C>T (p.Asn389=) c.1248C>T (p.Asn416=) c.1230C>T (p.Asn410=) c.1128C>T (p.Asn376=) n.1332-361G>A c.1308C>T (p.Asn436=) c.1410C>T (p.Asn470=) c.1350C>T (p.Asn450=) n.3607-361G>A n.4043-361G>A c.1233C>T (p.Asn411=) c.1251C>T (p.Asn417=) c.1008C>T (p.Asn336=) c.1041C>T (p.Asn347=) c.1059C>T (p.Asn353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428626del | CA2586969915 | PROC | c.1066del (p.Arg356AlafsTer22) c.390del c.1168del (p.Arg390AlafsTer22) c.1249del (p.Arg417AlafsTer22) c.1231del (p.Arg411AlafsTer22) c.1129del (p.Arg377AlafsTer22) n.1332-361del c.1309del (p.Arg437AlafsTer22) c.1411del (p.Arg471AlafsTer22) c.1351del (p.Arg451AlafsTer22) n.3607-361del n.4043-361del c.1234del (p.Arg412AlafsTer22) c.1252del (p.Arg418AlafsTer22) c.1009del (p.Arg337AlafsTer22) c.1042del (p.Arg348AlafsTer22) c.1060del (p.Arg354AlafsTer22) | |
2 | g.127428626C>A | CA348405691 | PROC | c.1066C>A (p.Arg356Ser) c.390C>A c.1168C>A (p.Arg390Ser) c.1249C>A (p.Arg417Ser) c.1231C>A (p.Arg411Ser) c.1129C>A (p.Arg377Ser) n.1332-362G>T c.1309C>A (p.Arg437Ser) c.1411C>A (p.Arg471Ser) c.1351C>A (p.Arg451Ser) n.3607-362G>T n.4043-362G>T c.1234C>A (p.Arg412Ser) c.1252C>A (p.Arg418Ser) c.1009C>A (p.Arg337Ser) c.1042C>A (p.Arg348Ser) c.1060C>A (p.Arg354Ser) | |
2 | g.127428626C= | CA1286884558 | PROC | c.1066C= (p.Arg356=) c.390C= c.1168C= (p.Arg390=) c.1249C= (p.Arg417=) c.1231C= (p.Arg411=) c.1129C= (p.Arg377=) n.1332-362G= c.1309C= (p.Arg437=) c.1411C= (p.Arg471=) c.1351C= (p.Arg451=) n.3607-362G= n.4043-362G= c.1234C= (p.Arg412=) c.1252C= (p.Arg418=) c.1009C= (p.Arg337=) c.1042C= (p.Arg348=) c.1060C= (p.Arg354=) | |
2 | g.127428626C>G | CA348405692 | PROC | c.1066C>G (p.Arg356Gly) c.390C>G c.1168C>G (p.Arg390Gly) c.1249C>G (p.Arg417Gly) c.1231C>G (p.Arg411Gly) c.1129C>G (p.Arg377Gly) n.1332-362G>C c.1309C>G (p.Arg437Gly) c.1411C>G (p.Arg471Gly) c.1351C>G (p.Arg451Gly) n.3607-362G>C n.4043-362G>C c.1234C>G (p.Arg412Gly) c.1252C>G (p.Arg418Gly) c.1009C>G (p.Arg337Gly) c.1042C>G (p.Arg348Gly) c.1060C>G (p.Arg354Gly) | |
2 | g.127428626C>T | CA1859515 | PROC | c.1066C>T (p.Arg356Cys) c.390C>T c.1168C>T (p.Arg390Cys) c.1249C>T (p.Arg417Cys) c.1231C>T (p.Arg411Cys) c.1129C>T (p.Arg377Cys) n.1332-362G>A c.1309C>T (p.Arg437Cys) c.1411C>T (p.Arg471Cys) c.1351C>T (p.Arg451Cys) n.3607-362G>A n.4043-362G>A c.1234C>T (p.Arg412Cys) c.1252C>T (p.Arg418Cys) c.1009C>T (p.Arg337Cys) c.1042C>T (p.Arg348Cys) c.1060C>T (p.Arg354Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428627G>A | CA1859516 | PROC | c.1067G>A (p.Arg356His) c.391G>A c.1169G>A (p.Arg390His) c.1250G>A (p.Arg417His) c.1232G>A (p.Arg411His) c.1130G>A (p.Arg377His) n.1332-363C>T c.1310G>A (p.Arg437His) c.1412G>A (p.Arg471His) c.1352G>A (p.Arg451His) n.3607-363C>T n.4043-363C>T c.1235G>A (p.Arg412His) c.1253G>A (p.Arg418His) c.1010G>A (p.Arg337His) c.1043G>A (p.Arg348His) c.1061G>A (p.Arg354His) | dbSNP ExAC gnomAD v2 |
2 | g.127428627G>C | CA348405693 | PROC | c.1067G>C (p.Arg356Pro) c.391G>C c.1169G>C (p.Arg390Pro) c.1250G>C (p.Arg417Pro) c.1232G>C (p.Arg411Pro) c.1130G>C (p.Arg377Pro) n.1332-363C>G c.1310G>C (p.Arg437Pro) c.1412G>C (p.Arg471Pro) c.1352G>C (p.Arg451Pro) n.3607-363C>G n.4043-363C>G c.1235G>C (p.Arg412Pro) c.1253G>C (p.Arg418Pro) c.1010G>C (p.Arg337Pro) c.1043G>C (p.Arg348Pro) c.1061G>C (p.Arg354Pro) | |
2 | g.127428627G= | CA1286884559 | PROC | c.1067G= (p.Arg356=) c.391G= c.1169G= (p.Arg390=) c.1250G= (p.Arg417=) c.1232G= (p.Arg411=) c.1130G= (p.Arg377=) n.1332-363C= c.1310G= (p.Arg437=) c.1412G= (p.Arg471=) c.1352G= (p.Arg451=) n.3607-363C= n.4043-363C= c.1235G= (p.Arg412=) c.1253G= (p.Arg418=) c.1010G= (p.Arg337=) c.1043G= (p.Arg348=) c.1061G= (p.Arg354=) | |
2 | g.127428627G>T | CA55351038 | PROC | c.1067G>T (p.Arg356Leu) c.391G>T c.1169G>T (p.Arg390Leu) c.1250G>T (p.Arg417Leu) c.1232G>T (p.Arg411Leu) c.1130G>T (p.Arg377Leu) n.1332-363C>A c.1310G>T (p.Arg437Leu) c.1412G>T (p.Arg471Leu) c.1352G>T (p.Arg451Leu) n.3607-363C>A n.4043-363C>A c.1235G>T (p.Arg412Leu) c.1253G>T (p.Arg418Leu) c.1010G>T (p.Arg337Leu) c.1043G>T (p.Arg348Leu) c.1061G>T (p.Arg354Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428628C>A | CA428872972 | PROC | c.1068C>A (p.Arg356=) c.392C>A c.1170C>A (p.Arg390=) c.1251C>A (p.Arg417=) c.1233C>A (p.Arg411=) c.1131C>A (p.Arg377=) n.1332-364G>T c.1311C>A (p.Arg437=) c.1413C>A (p.Arg471=) c.1353C>A (p.Arg451=) n.3607-364G>T n.4043-364G>T c.1236C>A (p.Arg412=) c.1254C>A (p.Arg418=) c.1011C>A (p.Arg337=) c.1044C>A (p.Arg348=) c.1062C>A (p.Arg354=) | |
2 | g.127428628C= | CA1286884560 | PROC | c.1068C= (p.Arg356=) c.392C= c.1170C= (p.Arg390=) c.1251C= (p.Arg417=) c.1233C= (p.Arg411=) c.1131C= (p.Arg377=) n.1332-364G= c.1311C= (p.Arg437=) c.1413C= (p.Arg471=) c.1353C= (p.Arg451=) n.3607-364G= n.4043-364G= c.1236C= (p.Arg412=) c.1254C= (p.Arg418=) c.1011C= (p.Arg337=) c.1044C= (p.Arg348=) c.1062C= (p.Arg354=) | |
2 | g.127428628C>G | CA428872974 | PROC | c.1068C>G (p.Arg356=) c.392C>G c.1170C>G (p.Arg390=) c.1251C>G (p.Arg417=) c.1233C>G (p.Arg411=) c.1131C>G (p.Arg377=) n.1332-364G>C c.1311C>G (p.Arg437=) c.1413C>G (p.Arg471=) c.1353C>G (p.Arg451=) n.3607-364G>C n.4043-364G>C c.1236C>G (p.Arg412=) c.1254C>G (p.Arg418=) c.1011C>G (p.Arg337=) c.1044C>G (p.Arg348=) c.1062C>G (p.Arg354=) | |
2 | g.127428628C>T | CA428872976 | PROC | c.1068C>T (p.Arg356=) c.392C>T c.1170C>T (p.Arg390=) c.1251C>T (p.Arg417=) c.1233C>T (p.Arg411=) c.1131C>T (p.Arg377=) n.1332-364G>A c.1311C>T (p.Arg437=) c.1413C>T (p.Arg471=) c.1353C>T (p.Arg451=) n.3607-364G>A n.4043-364G>A c.1236C>T (p.Arg412=) c.1254C>T (p.Arg418=) c.1011C>T (p.Arg337=) c.1044C>T (p.Arg348=) c.1062C>T (p.Arg354=) | dbSNP |
2 | g.127428629A>C | CA348405694 | PROC | c.1069A>C (p.Thr357Pro) c.393A>C c.1171A>C (p.Thr391Pro) c.1252A>C (p.Thr418Pro) c.1234A>C (p.Thr412Pro) c.1132A>C (p.Thr378Pro) n.1332-365T>G c.1312A>C (p.Thr438Pro) c.1414A>C (p.Thr472Pro) c.1354A>C (p.Thr452Pro) n.3607-365T>G n.4043-365T>G c.1237A>C (p.Thr413Pro) c.1255A>C (p.Thr419Pro) c.1012A>C (p.Thr338Pro) c.1045A>C (p.Thr349Pro) c.1063A>C (p.Thr355Pro) | |
2 | g.127428629A>G | CA348405695 | PROC | c.1069A>G (p.Thr357Ala) c.393A>G c.1171A>G (p.Thr391Ala) c.1252A>G (p.Thr418Ala) c.1234A>G (p.Thr412Ala) c.1132A>G (p.Thr378Ala) n.1332-365T>C c.1312A>G (p.Thr438Ala) c.1414A>G (p.Thr472Ala) c.1354A>G (p.Thr452Ala) n.3607-365T>C n.4043-365T>C c.1237A>G (p.Thr413Ala) c.1255A>G (p.Thr419Ala) c.1012A>G (p.Thr338Ala) c.1045A>G (p.Thr349Ala) c.1063A>G (p.Thr355Ala) | |
2 | g.127428629A>T | CA348405696 | PROC | c.1069A>T (p.Thr357Ser) c.393A>T c.1171A>T (p.Thr391Ser) c.1252A>T (p.Thr418Ser) c.1234A>T (p.Thr412Ser) c.1132A>T (p.Thr378Ser) n.1332-365T>A c.1312A>T (p.Thr438Ser) c.1414A>T (p.Thr472Ser) c.1354A>T (p.Thr452Ser) n.3607-365T>A n.4043-365T>A c.1237A>T (p.Thr413Ser) c.1255A>T (p.Thr419Ser) c.1012A>T (p.Thr338Ser) c.1045A>T (p.Thr349Ser) c.1063A>T (p.Thr355Ser) | |
2 | g.127428630C>A | CA348405697 | PROC | c.1070C>A (p.Thr357Asn) c.394C>A c.1172C>A (p.Thr391Asn) c.1253C>A (p.Thr418Asn) c.1235C>A (p.Thr412Asn) c.1133C>A (p.Thr378Asn) n.1332-366G>T c.1313C>A (p.Thr438Asn) c.1415C>A (p.Thr472Asn) c.1355C>A (p.Thr452Asn) n.3607-366G>T n.4043-366G>T c.1238C>A (p.Thr413Asn) c.1256C>A (p.Thr419Asn) c.1013C>A (p.Thr338Asn) c.1046C>A (p.Thr349Asn) c.1064C>A (p.Thr355Asn) | |
2 | g.127428630C>G | CA348405698 | PROC | c.1070C>G (p.Thr357Ser) c.394C>G c.1172C>G (p.Thr391Ser) c.1253C>G (p.Thr418Ser) c.1235C>G (p.Thr412Ser) c.1133C>G (p.Thr378Ser) n.1332-366G>C c.1313C>G (p.Thr438Ser) c.1415C>G (p.Thr472Ser) c.1355C>G (p.Thr452Ser) n.3607-366G>C n.4043-366G>C c.1238C>G (p.Thr413Ser) c.1256C>G (p.Thr419Ser) c.1013C>G (p.Thr338Ser) c.1046C>G (p.Thr349Ser) c.1064C>G (p.Thr355Ser) | |
2 | g.127428630C>T | CA348405699 | PROC | c.1070C>T (p.Thr357Ile) c.394C>T c.1172C>T (p.Thr391Ile) c.1253C>T (p.Thr418Ile) c.1235C>T (p.Thr412Ile) c.1133C>T (p.Thr378Ile) n.1332-366G>A c.1313C>T (p.Thr438Ile) c.1415C>T (p.Thr472Ile) c.1355C>T (p.Thr452Ile) n.3607-366G>A n.4043-366G>A c.1238C>T (p.Thr413Ile) c.1256C>T (p.Thr419Ile) c.1013C>T (p.Thr338Ile) c.1046C>T (p.Thr349Ile) c.1064C>T (p.Thr355Ile) | |
2 | g.127428631C>A | CA428872986 | PROC | c.1071C>A (p.Thr357=) c.395C>A c.1173C>A (p.Thr391=) c.1254C>A (p.Thr418=) c.1236C>A (p.Thr412=) c.1134C>A (p.Thr378=) n.1332-367G>T c.1314C>A (p.Thr438=) c.1416C>A (p.Thr472=) c.1356C>A (p.Thr452=) n.3607-367G>T n.4043-367G>T c.1239C>A (p.Thr413=) c.1257C>A (p.Thr419=) c.1014C>A (p.Thr338=) c.1047C>A (p.Thr349=) c.1065C>A (p.Thr355=) | |
2 | g.127428631C>G | CA428872989 | PROC | c.1071C>G (p.Thr357=) c.395C>G c.1173C>G (p.Thr391=) c.1254C>G (p.Thr418=) c.1236C>G (p.Thr412=) c.1134C>G (p.Thr378=) n.1332-367G>C c.1314C>G (p.Thr438=) c.1416C>G (p.Thr472=) c.1356C>G (p.Thr452=) n.3607-367G>C n.4043-367G>C c.1239C>G (p.Thr413=) c.1257C>G (p.Thr419=) c.1014C>G (p.Thr338=) c.1047C>G (p.Thr349=) c.1065C>G (p.Thr355=) | |
2 | g.127428631C>T | CA428872991 | PROC | c.1071C>T (p.Thr357=) c.395C>T c.1173C>T (p.Thr391=) c.1254C>T (p.Thr418=) c.1236C>T (p.Thr412=) c.1134C>T (p.Thr378=) n.1332-367G>A c.1314C>T (p.Thr438=) c.1416C>T (p.Thr472=) c.1356C>T (p.Thr452=) n.3607-367G>A n.4043-367G>A c.1239C>T (p.Thr413=) c.1257C>T (p.Thr419=) c.1014C>T (p.Thr338=) c.1047C>T (p.Thr349=) c.1065C>T (p.Thr355=) | |
2 | g.127428632T>A | CA348405700 | PROC | c.1072T>A (p.Phe358Ile) c.396T>A c.1174T>A (p.Phe392Ile) c.1255T>A (p.Phe419Ile) c.1237T>A (p.Phe413Ile) c.1135T>A (p.Phe379Ile) n.1332-368A>T c.1315T>A (p.Phe439Ile) c.1417T>A (p.Phe473Ile) c.1357T>A (p.Phe453Ile) n.3607-368A>T n.4043-368A>T c.1240T>A (p.Phe414Ile) c.1258T>A (p.Phe420Ile) c.1015T>A (p.Phe339Ile) c.1048T>A (p.Phe350Ile) c.1066T>A (p.Phe356Ile) | |
2 | g.127428632T>C | CA348405701 | PROC | c.1072T>C (p.Phe358Leu) c.396T>C c.1174T>C (p.Phe392Leu) c.1255T>C (p.Phe419Leu) c.1237T>C (p.Phe413Leu) c.1135T>C (p.Phe379Leu) n.1332-368A>G c.1315T>C (p.Phe439Leu) c.1417T>C (p.Phe473Leu) c.1357T>C (p.Phe453Leu) n.3607-368A>G n.4043-368A>G c.1240T>C (p.Phe414Leu) c.1258T>C (p.Phe420Leu) c.1015T>C (p.Phe339Leu) c.1048T>C (p.Phe350Leu) c.1066T>C (p.Phe356Leu) | dbSNP gnomAD v2 |
2 | g.127428632T>G | CA348405702 | PROC | c.1072T>G (p.Phe358Val) c.396T>G c.1174T>G (p.Phe392Val) c.1255T>G (p.Phe419Val) c.1237T>G (p.Phe413Val) c.1135T>G (p.Phe379Val) n.1332-368A>C c.1315T>G (p.Phe439Val) c.1417T>G (p.Phe473Val) c.1357T>G (p.Phe453Val) n.3607-368A>C n.4043-368A>C c.1240T>G (p.Phe414Val) c.1258T>G (p.Phe420Val) c.1015T>G (p.Phe339Val) c.1048T>G (p.Phe350Val) c.1066T>G (p.Phe356Val) | |
2 | g.127428632T= | CA1286884561 | PROC | c.1072T= (p.Phe358=) c.396T= c.1174T= (p.Phe392=) c.1255T= (p.Phe419=) c.1237T= (p.Phe413=) c.1135T= (p.Phe379=) n.1332-368A= c.1315T= (p.Phe439=) c.1417T= (p.Phe473=) c.1357T= (p.Phe453=) n.3607-368A= n.4043-368A= c.1240T= (p.Phe414=) c.1258T= (p.Phe420=) c.1015T= (p.Phe339=) c.1048T= (p.Phe350=) c.1066T= (p.Phe356=) | |
2 | g.127428633T>A | CA348405703 | PROC | c.1073T>A (p.Phe358Tyr) c.397T>A c.1175T>A (p.Phe392Tyr) c.1256T>A (p.Phe419Tyr) c.1238T>A (p.Phe413Tyr) c.1136T>A (p.Phe379Tyr) n.1332-369A>T c.1316T>A (p.Phe439Tyr) c.1418T>A (p.Phe473Tyr) c.1358T>A (p.Phe453Tyr) n.3607-369A>T n.4043-369A>T c.1241T>A (p.Phe414Tyr) c.1259T>A (p.Phe420Tyr) c.1016T>A (p.Phe339Tyr) c.1049T>A (p.Phe350Tyr) c.1067T>A (p.Phe356Tyr) | |
2 | g.127428633T>C | CA348405704 | PROC | c.1073T>C (p.Phe358Ser) c.397T>C c.1175T>C (p.Phe392Ser) c.1256T>C (p.Phe419Ser) c.1238T>C (p.Phe413Ser) c.1136T>C (p.Phe379Ser) n.1332-369A>G c.1316T>C (p.Phe439Ser) c.1418T>C (p.Phe473Ser) c.1358T>C (p.Phe453Ser) n.3607-369A>G n.4043-369A>G c.1241T>C (p.Phe414Ser) c.1259T>C (p.Phe420Ser) c.1016T>C (p.Phe339Ser) c.1049T>C (p.Phe350Ser) c.1067T>C (p.Phe356Ser) | |
2 | g.127428633T>G | CA348405705 | PROC | c.1073T>G (p.Phe358Cys) c.397T>G c.1175T>G (p.Phe392Cys) c.1256T>G (p.Phe419Cys) c.1238T>G (p.Phe413Cys) c.1136T>G (p.Phe379Cys) n.1332-369A>C c.1316T>G (p.Phe439Cys) c.1418T>G (p.Phe473Cys) c.1358T>G (p.Phe453Cys) n.3607-369A>C n.4043-369A>C c.1241T>G (p.Phe414Cys) c.1259T>G (p.Phe420Cys) c.1016T>G (p.Phe339Cys) c.1049T>G (p.Phe350Cys) c.1067T>G (p.Phe356Cys) | |
2 | g.127428634C>A | CA55351063 | PROC | c.1074C>A (p.Phe358Leu) c.398C>A c.1176C>A (p.Phe392Leu) c.1257C>A (p.Phe419Leu) c.1239C>A (p.Phe413Leu) c.1137C>A (p.Phe379Leu) n.1332-370G>T c.1317C>A (p.Phe439Leu) c.1419C>A (p.Phe473Leu) c.1359C>A (p.Phe453Leu) n.3607-370G>T n.4043-370G>T c.1242C>A (p.Phe414Leu) c.1260C>A (p.Phe420Leu) c.1017C>A (p.Phe339Leu) c.1050C>A (p.Phe350Leu) c.1068C>A (p.Phe356Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428634C= | CA1286884562 | PROC | c.1074C= (p.Phe358=) c.398C= c.1176C= (p.Phe392=) c.1257C= (p.Phe419=) c.1239C= (p.Phe413=) c.1137C= (p.Phe379=) n.1332-370G= c.1317C= (p.Phe439=) c.1419C= (p.Phe473=) c.1359C= (p.Phe453=) n.3607-370G= n.4043-370G= c.1242C= (p.Phe414=) c.1260C= (p.Phe420=) c.1017C= (p.Phe339=) c.1050C= (p.Phe350=) c.1068C= (p.Phe356=) | |
2 | g.127428634C>G | CA348405706 | PROC | c.1074C>G (p.Phe358Leu) c.398C>G c.1176C>G (p.Phe392Leu) c.1257C>G (p.Phe419Leu) c.1239C>G (p.Phe413Leu) c.1137C>G (p.Phe379Leu) n.1332-370G>C c.1317C>G (p.Phe439Leu) c.1419C>G (p.Phe473Leu) c.1359C>G (p.Phe453Leu) n.3607-370G>C n.4043-370G>C c.1242C>G (p.Phe414Leu) c.1260C>G (p.Phe420Leu) c.1017C>G (p.Phe339Leu) c.1050C>G (p.Phe350Leu) c.1068C>G (p.Phe356Leu) | |
2 | g.127428634C>T | CA1859517 | PROC | c.1074C>T (p.Phe358=) c.398C>T c.1176C>T (p.Phe392=) c.1257C>T (p.Phe419=) c.1239C>T (p.Phe413=) c.1137C>T (p.Phe379=) n.1332-370G>A c.1317C>T (p.Phe439=) c.1419C>T (p.Phe473=) c.1359C>T (p.Phe453=) n.3607-370G>A n.4043-370G>A c.1242C>T (p.Phe414=) c.1260C>T (p.Phe420=) c.1017C>T (p.Phe339=) c.1050C>T (p.Phe350=) c.1068C>T (p.Phe356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428635G>A | CA1859518 | PROC | c.1075G>A (p.Val359Ile) c.399G>A c.1177G>A (p.Val393Ile) c.1258G>A (p.Val420Ile) c.1240G>A (p.Val414Ile) c.1138G>A (p.Val380Ile) n.1332-371C>T c.1318G>A (p.Val440Ile) c.1420G>A (p.Val474Ile) c.1360G>A (p.Val454Ile) n.3607-371C>T n.4043-371C>T c.1243G>A (p.Val415Ile) c.1261G>A (p.Val421Ile) c.1018G>A (p.Val340Ile) c.1051G>A (p.Val351Ile) c.1069G>A (p.Val357Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428635G>C | CA348405707 | PROC | c.1075G>C (p.Val359Leu) c.399G>C c.1177G>C (p.Val393Leu) c.1258G>C (p.Val420Leu) c.1240G>C (p.Val414Leu) c.1138G>C (p.Val380Leu) n.1332-371C>G c.1318G>C (p.Val440Leu) c.1420G>C (p.Val474Leu) c.1360G>C (p.Val454Leu) n.3607-371C>G n.4043-371C>G c.1243G>C (p.Val415Leu) c.1261G>C (p.Val421Leu) c.1018G>C (p.Val340Leu) c.1051G>C (p.Val351Leu) c.1069G>C (p.Val357Leu) | |
2 | g.127428635G= | CA1286884563 | PROC | c.1075G= (p.Val359=) c.399G= c.1177G= (p.Val393=) c.1258G= (p.Val420=) c.1240G= (p.Val414=) c.1138G= (p.Val380=) n.1332-371C= c.1318G= (p.Val440=) c.1420G= (p.Val474=) c.1360G= (p.Val454=) n.3607-371C= n.4043-371C= c.1243G= (p.Val415=) c.1261G= (p.Val421=) c.1018G= (p.Val340=) c.1051G= (p.Val351=) c.1069G= (p.Val357=) | |
2 | g.127428635G>T | CA1859519 | PROC | c.1075G>T (p.Val359Phe) c.399G>T c.1177G>T (p.Val393Phe) c.1258G>T (p.Val420Phe) c.1240G>T (p.Val414Phe) c.1138G>T (p.Val380Phe) n.1332-371C>A c.1318G>T (p.Val440Phe) c.1420G>T (p.Val474Phe) c.1360G>T (p.Val454Phe) n.3607-371C>A n.4043-371C>A c.1243G>T (p.Val415Phe) c.1261G>T (p.Val421Phe) c.1018G>T (p.Val340Phe) c.1051G>T (p.Val351Phe) c.1069G>T (p.Val357Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428636T>A | CA348405708 | PROC | c.1076T>A (p.Val359Asp) c.400T>A c.1178T>A (p.Val393Asp) c.1259T>A (p.Val420Asp) c.1241T>A (p.Val414Asp) c.1139T>A (p.Val380Asp) n.1332-372A>T c.1319T>A (p.Val440Asp) c.1421T>A (p.Val474Asp) c.1361T>A (p.Val454Asp) n.3607-372A>T n.4043-372A>T c.1244T>A (p.Val415Asp) c.1262T>A (p.Val421Asp) c.1019T>A (p.Val340Asp) c.1052T>A (p.Val351Asp) c.1070T>A (p.Val357Asp) | |
2 | g.127428636T>C | CA348405709 | PROC | c.1076T>C (p.Val359Ala) c.400T>C c.1178T>C (p.Val393Ala) c.1259T>C (p.Val420Ala) c.1241T>C (p.Val414Ala) c.1139T>C (p.Val380Ala) n.1332-372A>G c.1319T>C (p.Val440Ala) c.1421T>C (p.Val474Ala) c.1361T>C (p.Val454Ala) n.3607-372A>G n.4043-372A>G c.1244T>C (p.Val415Ala) c.1262T>C (p.Val421Ala) c.1019T>C (p.Val340Ala) c.1052T>C (p.Val351Ala) c.1070T>C (p.Val357Ala) | |
2 | g.127428636T>G | CA348405710 | PROC | c.1076T>G (p.Val359Gly) c.400T>G c.1178T>G (p.Val393Gly) c.1259T>G (p.Val420Gly) c.1241T>G (p.Val414Gly) c.1139T>G (p.Val380Gly) n.1332-372A>C c.1319T>G (p.Val440Gly) c.1421T>G (p.Val474Gly) c.1361T>G (p.Val454Gly) n.3607-372A>C n.4043-372A>C c.1244T>G (p.Val415Gly) c.1262T>G (p.Val421Gly) c.1019T>G (p.Val340Gly) c.1052T>G (p.Val351Gly) c.1070T>G (p.Val357Gly) | |
2 | g.127428637C>A | CA428873018 | PROC | c.1077C>A (p.Val359=) c.401C>A c.1179C>A (p.Val393=) c.1260C>A (p.Val420=) c.1242C>A (p.Val414=) c.1140C>A (p.Val380=) n.1332-373G>T c.1320C>A (p.Val440=) c.1422C>A (p.Val474=) c.1362C>A (p.Val454=) n.3607-373G>T n.4043-373G>T c.1245C>A (p.Val415=) c.1263C>A (p.Val421=) c.1020C>A (p.Val340=) c.1053C>A (p.Val351=) c.1071C>A (p.Val357=) | |
2 | g.127428637C= | CA1286884564 | PROC | c.1077C= (p.Val359=) c.401C= c.1179C= (p.Val393=) c.1260C= (p.Val420=) c.1242C= (p.Val414=) c.1140C= (p.Val380=) n.1332-373G= c.1320C= (p.Val440=) c.1422C= (p.Val474=) c.1362C= (p.Val454=) n.3607-373G= n.4043-373G= c.1245C= (p.Val415=) c.1263C= (p.Val421=) c.1020C= (p.Val340=) c.1053C= (p.Val351=) c.1071C= (p.Val357=) | |
2 | g.127428637C>G | CA1859520 | PROC | c.1077C>G (p.Val359=) c.401C>G c.1179C>G (p.Val393=) c.1260C>G (p.Val420=) c.1242C>G (p.Val414=) c.1140C>G (p.Val380=) n.1332-373G>C c.1320C>G (p.Val440=) c.1422C>G (p.Val474=) c.1362C>G (p.Val454=) n.3607-373G>C n.4043-373G>C c.1245C>G (p.Val415=) c.1263C>G (p.Val421=) c.1020C>G (p.Val340=) c.1053C>G (p.Val351=) c.1071C>G (p.Val357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428637C>T | CA428873017 | PROC | c.1077C>T (p.Val359=) c.401C>T c.1179C>T (p.Val393=) c.1260C>T (p.Val420=) c.1242C>T (p.Val414=) c.1140C>T (p.Val380=) n.1332-373G>A c.1320C>T (p.Val440=) c.1422C>T (p.Val474=) c.1362C>T (p.Val454=) n.3607-373G>A n.4043-373G>A c.1245C>T (p.Val415=) c.1263C>T (p.Val421=) c.1020C>T (p.Val340=) c.1053C>T (p.Val351=) c.1071C>T (p.Val357=) | |
2 | g.127428638C>A | CA348405711 | PROC | c.1078C>A (p.Leu360Ile) c.402C>A c.1180C>A (p.Leu394Ile) c.1261C>A (p.Leu421Ile) c.1243C>A (p.Leu415Ile) c.1141C>A (p.Leu381Ile) n.1332-374G>T c.1321C>A (p.Leu441Ile) c.1423C>A (p.Leu475Ile) c.1363C>A (p.Leu455Ile) n.3607-374G>T n.4043-374G>T c.1246C>A (p.Leu416Ile) c.1264C>A (p.Leu422Ile) c.1021C>A (p.Leu341Ile) c.1054C>A (p.Leu352Ile) c.1072C>A (p.Leu358Ile) | |
2 | g.127428638C>G | CA348405712 | PROC | c.1078C>G (p.Leu360Val) c.402C>G c.1180C>G (p.Leu394Val) c.1261C>G (p.Leu421Val) c.1243C>G (p.Leu415Val) c.1141C>G (p.Leu381Val) n.1332-374G>C c.1321C>G (p.Leu441Val) c.1423C>G (p.Leu475Val) c.1363C>G (p.Leu455Val) n.3607-374G>C n.4043-374G>C c.1246C>G (p.Leu416Val) c.1264C>G (p.Leu422Val) c.1021C>G (p.Leu341Val) c.1054C>G (p.Leu352Val) c.1072C>G (p.Leu358Val) | |
2 | g.127428638C>T | CA348405713 | PROC | c.1078C>T (p.Leu360Phe) c.402C>T c.1180C>T (p.Leu394Phe) c.1261C>T (p.Leu421Phe) c.1243C>T (p.Leu415Phe) c.1141C>T (p.Leu381Phe) n.1332-374G>A c.1321C>T (p.Leu441Phe) c.1423C>T (p.Leu475Phe) c.1363C>T (p.Leu455Phe) n.3607-374G>A n.4043-374G>A c.1246C>T (p.Leu416Phe) c.1264C>T (p.Leu422Phe) c.1021C>T (p.Leu341Phe) c.1054C>T (p.Leu352Phe) c.1072C>T (p.Leu358Phe) | |
2 | g.127428639T>A | CA348405714 | PROC | c.1079T>A (p.Leu360His) c.403T>A c.1181T>A (p.Leu394His) c.1262T>A (p.Leu421His) c.1244T>A (p.Leu415His) c.1142T>A (p.Leu381His) n.1332-375A>T c.1322T>A (p.Leu441His) c.1424T>A (p.Leu475His) c.1364T>A (p.Leu455His) n.3607-375A>T n.4043-375A>T c.1247T>A (p.Leu416His) c.1265T>A (p.Leu422His) c.1022T>A (p.Leu341His) c.1055T>A (p.Leu352His) c.1073T>A (p.Leu358His) | |
2 | g.127428639T>C | CA348405715 | PROC | c.1079T>C (p.Leu360Pro) c.403T>C c.1181T>C (p.Leu394Pro) c.1262T>C (p.Leu421Pro) c.1244T>C (p.Leu415Pro) c.1142T>C (p.Leu381Pro) n.1332-375A>G c.1322T>C (p.Leu441Pro) c.1424T>C (p.Leu475Pro) c.1364T>C (p.Leu455Pro) n.3607-375A>G n.4043-375A>G c.1247T>C (p.Leu416Pro) c.1265T>C (p.Leu422Pro) c.1022T>C (p.Leu341Pro) c.1055T>C (p.Leu352Pro) c.1073T>C (p.Leu358Pro) | |
2 | g.127428639T>G | CA348405716 | PROC | c.1079T>G (p.Leu360Arg) c.403T>G c.1181T>G (p.Leu394Arg) c.1262T>G (p.Leu421Arg) c.1244T>G (p.Leu415Arg) c.1142T>G (p.Leu381Arg) n.1332-375A>C c.1322T>G (p.Leu441Arg) c.1424T>G (p.Leu475Arg) c.1364T>G (p.Leu455Arg) n.3607-375A>C n.4043-375A>C c.1247T>G (p.Leu416Arg) c.1265T>G (p.Leu422Arg) c.1022T>G (p.Leu341Arg) c.1055T>G (p.Leu352Arg) c.1073T>G (p.Leu358Arg) | |
2 | g.127428642_127428647del | CA2586969916 | PROC | c.1082_1087del (p.Asn361_Phe362del) c.406_411del c.1184_1189del (p.Asn395_Phe396del) c.1265_1270del (p.Asn422_Phe423del) c.1247_1252del (p.Asn416_Phe417del) c.1145_1150del (p.Asn382_Phe383del) n.1332-380_1332-375del c.1325_1330del (p.Asn442_Phe443del) c.1427_1432del (p.Asn476_Phe477del) c.1367_1372del (p.Asn456_Phe457del) n.3607-380_3607-375del n.4043-380_4043-375del c.1250_1255del (p.Asn417_Phe418del) c.1268_1273del (p.Asn423_Phe424del) c.1025_1030del (p.Asn342_Phe343del) c.1058_1063del (p.Asn353_Phe354del) c.1076_1081del (p.Asn359_Phe360del) | |
2 | g.127428640C>A | CA428873022 | PROC | c.1080C>A (p.Leu360=) c.404C>A c.1182C>A (p.Leu394=) c.1263C>A (p.Leu421=) c.1245C>A (p.Leu415=) c.1143C>A (p.Leu381=) n.1332-376G>T c.1323C>A (p.Leu441=) c.1425C>A (p.Leu475=) c.1365C>A (p.Leu455=) n.3607-376G>T n.4043-376G>T c.1248C>A (p.Leu416=) c.1266C>A (p.Leu422=) c.1023C>A (p.Leu341=) c.1056C>A (p.Leu352=) c.1074C>A (p.Leu358=) | |
2 | g.127428640C>G | CA428873021 | PROC | c.1080C>G (p.Leu360=) c.404C>G c.1182C>G (p.Leu394=) c.1263C>G (p.Leu421=) c.1245C>G (p.Leu415=) c.1143C>G (p.Leu381=) n.1332-376G>C c.1323C>G (p.Leu441=) c.1425C>G (p.Leu475=) c.1365C>G (p.Leu455=) n.3607-376G>C n.4043-376G>C c.1248C>G (p.Leu416=) c.1266C>G (p.Leu422=) c.1023C>G (p.Leu341=) c.1056C>G (p.Leu352=) c.1074C>G (p.Leu358=) | ClinVar dbSNP |
2 | g.127428640C>T | CA428873020 | PROC | c.1080C>T (p.Leu360=) c.404C>T c.1182C>T (p.Leu394=) c.1263C>T (p.Leu421=) c.1245C>T (p.Leu415=) c.1143C>T (p.Leu381=) n.1332-376G>A c.1323C>T (p.Leu441=) c.1425C>T (p.Leu475=) c.1365C>T (p.Leu455=) n.3607-376G>A n.4043-376G>A c.1248C>T (p.Leu416=) c.1266C>T (p.Leu422=) c.1023C>T (p.Leu341=) c.1056C>T (p.Leu352=) c.1074C>T (p.Leu358=) | |
2 | g.127428641A>C | CA348405718 | PROC | c.1081A>C (p.Asn361His) c.405A>C c.1183A>C (p.Asn395His) c.1264A>C (p.Asn422His) c.1246A>C (p.Asn416His) c.1144A>C (p.Asn382His) n.1332-377T>G c.1324A>C (p.Asn442His) c.1426A>C (p.Asn476His) c.1366A>C (p.Asn456His) n.3607-377T>G n.4043-377T>G c.1249A>C (p.Asn417His) c.1267A>C (p.Asn423His) c.1024A>C (p.Asn342His) c.1057A>C (p.Asn353His) c.1075A>C (p.Asn359His) | |
2 | g.127428641A>G | CA348405719 | PROC | c.1081A>G (p.Asn361Asp) c.405A>G c.1183A>G (p.Asn395Asp) c.1264A>G (p.Asn422Asp) c.1246A>G (p.Asn416Asp) c.1144A>G (p.Asn382Asp) n.1332-377T>C c.1324A>G (p.Asn442Asp) c.1426A>G (p.Asn476Asp) c.1366A>G (p.Asn456Asp) n.3607-377T>C n.4043-377T>C c.1249A>G (p.Asn417Asp) c.1267A>G (p.Asn423Asp) c.1024A>G (p.Asn342Asp) c.1057A>G (p.Asn353Asp) c.1075A>G (p.Asn359Asp) | |
2 | g.127428641A>T | CA348405717 | PROC | c.1081A>T (p.Asn361Tyr) c.405A>T c.1183A>T (p.Asn395Tyr) c.1264A>T (p.Asn422Tyr) c.1246A>T (p.Asn416Tyr) c.1144A>T (p.Asn382Tyr) n.1332-377T>A c.1324A>T (p.Asn442Tyr) c.1426A>T (p.Asn476Tyr) c.1366A>T (p.Asn456Tyr) n.3607-377T>A n.4043-377T>A c.1249A>T (p.Asn417Tyr) c.1267A>T (p.Asn423Tyr) c.1024A>T (p.Asn342Tyr) c.1057A>T (p.Asn353Tyr) c.1075A>T (p.Asn359Tyr) | |
2 | g.127428642A>C | CA348405720 | PROC | c.1082A>C (p.Asn361Thr) c.406A>C c.1184A>C (p.Asn395Thr) c.1265A>C (p.Asn422Thr) c.1247A>C (p.Asn416Thr) c.1145A>C (p.Asn382Thr) n.1332-378T>G c.1325A>C (p.Asn442Thr) c.1427A>C (p.Asn476Thr) c.1367A>C (p.Asn456Thr) n.3607-378T>G n.4043-378T>G c.1250A>C (p.Asn417Thr) c.1268A>C (p.Asn423Thr) c.1025A>C (p.Asn342Thr) c.1058A>C (p.Asn353Thr) c.1076A>C (p.Asn359Thr) | |
2 | g.127428642A>G | CA348405722 | PROC | c.1082A>G (p.Asn361Ser) c.406A>G c.1184A>G (p.Asn395Ser) c.1265A>G (p.Asn422Ser) c.1247A>G (p.Asn416Ser) c.1145A>G (p.Asn382Ser) n.1332-378T>C c.1325A>G (p.Asn442Ser) c.1427A>G (p.Asn476Ser) c.1367A>G (p.Asn456Ser) n.3607-378T>C n.4043-378T>C c.1250A>G (p.Asn417Ser) c.1268A>G (p.Asn423Ser) c.1025A>G (p.Asn342Ser) c.1058A>G (p.Asn353Ser) c.1076A>G (p.Asn359Ser) | gnomAD v4 |
2 | g.127428642A>T | CA348405721 | PROC | c.1082A>T (p.Asn361Ile) c.406A>T c.1184A>T (p.Asn395Ile) c.1265A>T (p.Asn422Ile) c.1247A>T (p.Asn416Ile) c.1145A>T (p.Asn382Ile) n.1332-378T>A c.1325A>T (p.Asn442Ile) c.1427A>T (p.Asn476Ile) c.1367A>T (p.Asn456Ile) n.3607-378T>A n.4043-378T>A c.1250A>T (p.Asn417Ile) c.1268A>T (p.Asn423Ile) c.1025A>T (p.Asn342Ile) c.1058A>T (p.Asn353Ile) c.1076A>T (p.Asn359Ile) | |
2 | g.127428643C>A | CA348405723 | PROC | c.1083C>A (p.Asn361Lys) c.407C>A c.1185C>A (p.Asn395Lys) c.1266C>A (p.Asn422Lys) c.1248C>A (p.Asn416Lys) c.1146C>A (p.Asn382Lys) n.1332-379G>T c.1326C>A (p.Asn442Lys) c.1428C>A (p.Asn476Lys) c.1368C>A (p.Asn456Lys) n.3607-379G>T n.4043-379G>T c.1251C>A (p.Asn417Lys) c.1269C>A (p.Asn423Lys) c.1026C>A (p.Asn342Lys) c.1059C>A (p.Asn353Lys) c.1077C>A (p.Asn359Lys) | |
2 | g.127428643C>G | CA348405724 | PROC | c.1083C>G (p.Asn361Lys) c.407C>G c.1185C>G (p.Asn395Lys) c.1266C>G (p.Asn422Lys) c.1248C>G (p.Asn416Lys) c.1146C>G (p.Asn382Lys) n.1332-379G>C c.1326C>G (p.Asn442Lys) c.1428C>G (p.Asn476Lys) c.1368C>G (p.Asn456Lys) n.3607-379G>C n.4043-379G>C c.1251C>G (p.Asn417Lys) c.1269C>G (p.Asn423Lys) c.1026C>G (p.Asn342Lys) c.1059C>G (p.Asn353Lys) c.1077C>G (p.Asn359Lys) | |
2 | g.127428643C>T | CA428873025 | PROC | c.1083C>T (p.Asn361=) c.407C>T c.1185C>T (p.Asn395=) c.1266C>T (p.Asn422=) c.1248C>T (p.Asn416=) c.1146C>T (p.Asn382=) n.1332-379G>A c.1326C>T (p.Asn442=) c.1428C>T (p.Asn476=) c.1368C>T (p.Asn456=) n.3607-379G>A n.4043-379G>A c.1251C>T (p.Asn417=) c.1269C>T (p.Asn423=) c.1026C>T (p.Asn342=) c.1059C>T (p.Asn353=) c.1077C>T (p.Asn359=) | |
2 | g.127428644T>A | CA348405725 | PROC | c.1084T>A (p.Phe362Ile) c.408T>A c.1186T>A (p.Phe396Ile) c.1267T>A (p.Phe423Ile) c.1249T>A (p.Phe417Ile) c.1147T>A (p.Phe383Ile) n.1332-380A>T c.1327T>A (p.Phe443Ile) c.1429T>A (p.Phe477Ile) c.1369T>A (p.Phe457Ile) n.3607-380A>T n.4043-380A>T c.1252T>A (p.Phe418Ile) c.1270T>A (p.Phe424Ile) c.1027T>A (p.Phe343Ile) c.1060T>A (p.Phe354Ile) c.1078T>A (p.Phe360Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.127428644T>C | CA348405726 | PROC | c.1084T>C (p.Phe362Leu) c.408T>C c.1186T>C (p.Phe396Leu) c.1267T>C (p.Phe423Leu) c.1249T>C (p.Phe417Leu) c.1147T>C (p.Phe383Leu) n.1332-380A>G c.1327T>C (p.Phe443Leu) c.1429T>C (p.Phe477Leu) c.1369T>C (p.Phe457Leu) n.3607-380A>G n.4043-380A>G c.1252T>C (p.Phe418Leu) c.1270T>C (p.Phe424Leu) c.1027T>C (p.Phe343Leu) c.1060T>C (p.Phe354Leu) c.1078T>C (p.Phe360Leu) | |
2 | g.127428644T>G | CA348405727 | PROC | c.1084T>G (p.Phe362Val) c.408T>G c.1186T>G (p.Phe396Val) c.1267T>G (p.Phe423Val) c.1249T>G (p.Phe417Val) c.1147T>G (p.Phe383Val) n.1332-380A>C c.1327T>G (p.Phe443Val) c.1429T>G (p.Phe477Val) c.1369T>G (p.Phe457Val) n.3607-380A>C n.4043-380A>C c.1252T>G (p.Phe418Val) c.1270T>G (p.Phe424Val) c.1027T>G (p.Phe343Val) c.1060T>G (p.Phe354Val) c.1078T>G (p.Phe360Val) | |
2 | g.127428645T>A | CA348405728 | PROC | c.1085T>A (p.Phe362Tyr) c.409T>A c.1187T>A (p.Phe396Tyr) c.1268T>A (p.Phe423Tyr) c.1250T>A (p.Phe417Tyr) c.1148T>A (p.Phe383Tyr) n.1332-381A>T c.1328T>A (p.Phe443Tyr) c.1430T>A (p.Phe477Tyr) c.1370T>A (p.Phe457Tyr) n.3607-381A>T n.4043-381A>T c.1253T>A (p.Phe418Tyr) c.1271T>A (p.Phe424Tyr) c.1028T>A (p.Phe343Tyr) c.1061T>A (p.Phe354Tyr) c.1079T>A (p.Phe360Tyr) | |
2 | g.127428645T>C | CA348405729 | PROC | c.1085T>C (p.Phe362Ser) c.409T>C c.1187T>C (p.Phe396Ser) c.1268T>C (p.Phe423Ser) c.1250T>C (p.Phe417Ser) c.1148T>C (p.Phe383Ser) n.1332-381A>G c.1328T>C (p.Phe443Ser) c.1430T>C (p.Phe477Ser) c.1370T>C (p.Phe457Ser) n.3607-381A>G n.4043-381A>G c.1253T>C (p.Phe418Ser) c.1271T>C (p.Phe424Ser) c.1028T>C (p.Phe343Ser) c.1061T>C (p.Phe354Ser) c.1079T>C (p.Phe360Ser) | |
2 | g.127428645T>G | CA348405730 | PROC | c.1085T>G (p.Phe362Cys) c.409T>G c.1187T>G (p.Phe396Cys) c.1268T>G (p.Phe423Cys) c.1250T>G (p.Phe417Cys) c.1148T>G (p.Phe383Cys) n.1332-381A>C c.1328T>G (p.Phe443Cys) c.1430T>G (p.Phe477Cys) c.1370T>G (p.Phe457Cys) n.3607-381A>C n.4043-381A>C c.1253T>G (p.Phe418Cys) c.1271T>G (p.Phe424Cys) c.1028T>G (p.Phe343Cys) c.1061T>G (p.Phe354Cys) c.1079T>G (p.Phe360Cys) | |
2 | g.127428648_127428650del | CA2577090332 | PROC | c.1088_1090del (p.Ile363del) c.412_414del c.1190_1192del (p.Ile397del) c.1271_1273del (p.Ile424del) c.1253_1255del (p.Ile418del) c.1151_1153del (p.Ile384del) n.1332-383_1332-381del c.1331_1333del (p.Ile444del) c.1433_1435del (p.Ile478del) c.1373_1375del (p.Ile458del) n.3607-383_3607-381del n.4043-383_4043-381del c.1256_1258del (p.Ile419del) c.1274_1276del (p.Ile425del) c.1031_1033del (p.Ile344del) c.1064_1066del (p.Ile355del) c.1082_1084del (p.Ile361del) | |
2 | g.127428646C>A | CA348405731 | PROC | c.1086C>A (p.Phe362Leu) c.410C>A c.1188C>A (p.Phe396Leu) c.1269C>A (p.Phe423Leu) c.1251C>A (p.Phe417Leu) c.1149C>A (p.Phe383Leu) n.1332-382G>T c.1329C>A (p.Phe443Leu) c.1431C>A (p.Phe477Leu) c.1371C>A (p.Phe457Leu) n.3607-382G>T n.4043-382G>T c.1254C>A (p.Phe418Leu) c.1272C>A (p.Phe424Leu) c.1029C>A (p.Phe343Leu) c.1062C>A (p.Phe354Leu) c.1080C>A (p.Phe360Leu) | |
2 | g.127428646C= | CA1286884565 | PROC | c.1086C= (p.Phe362=) c.410C= c.1188C= (p.Phe396=) c.1269C= (p.Phe423=) c.1251C= (p.Phe417=) c.1149C= (p.Phe383=) n.1332-382G= c.1329C= (p.Phe443=) c.1431C= (p.Phe477=) c.1371C= (p.Phe457=) n.3607-382G= n.4043-382G= c.1254C= (p.Phe418=) c.1272C= (p.Phe424=) c.1029C= (p.Phe343=) c.1062C= (p.Phe354=) c.1080C= (p.Phe360=) | |
2 | g.127428646C>G | CA348405732 | PROC | c.1086C>G (p.Phe362Leu) c.410C>G c.1188C>G (p.Phe396Leu) c.1269C>G (p.Phe423Leu) c.1251C>G (p.Phe417Leu) c.1149C>G (p.Phe383Leu) n.1332-382G>C c.1329C>G (p.Phe443Leu) c.1431C>G (p.Phe477Leu) c.1371C>G (p.Phe457Leu) n.3607-382G>C n.4043-382G>C c.1254C>G (p.Phe418Leu) c.1272C>G (p.Phe424Leu) c.1029C>G (p.Phe343Leu) c.1062C>G (p.Phe354Leu) c.1080C>G (p.Phe360Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428646C>T | CA428873029 | PROC | c.1086C>T (p.Phe362=) c.410C>T c.1188C>T (p.Phe396=) c.1269C>T (p.Phe423=) c.1251C>T (p.Phe417=) c.1149C>T (p.Phe383=) n.1332-382G>A c.1329C>T (p.Phe443=) c.1431C>T (p.Phe477=) c.1371C>T (p.Phe457=) n.3607-382G>A n.4043-382G>A c.1254C>T (p.Phe418=) c.1272C>T (p.Phe424=) c.1029C>T (p.Phe343=) c.1062C>T (p.Phe354=) c.1080C>T (p.Phe360=) | |
2 | g.127428647A>C | CA348405735 | PROC | c.1087A>C (p.Ile363Leu) c.411A>C c.1189A>C (p.Ile397Leu) c.1270A>C (p.Ile424Leu) c.1252A>C (p.Ile418Leu) c.1150A>C (p.Ile384Leu) n.1332-383T>G c.1330A>C (p.Ile444Leu) c.1432A>C (p.Ile478Leu) c.1372A>C (p.Ile458Leu) n.3607-383T>G n.4043-383T>G c.1255A>C (p.Ile419Leu) c.1273A>C (p.Ile425Leu) c.1030A>C (p.Ile344Leu) c.1063A>C (p.Ile355Leu) c.1081A>C (p.Ile361Leu) | |
2 | g.127428647A>G | CA348405737 | PROC | c.1087A>G (p.Ile363Val) c.411A>G c.1189A>G (p.Ile397Val) c.1270A>G (p.Ile424Val) c.1252A>G (p.Ile418Val) c.1150A>G (p.Ile384Val) n.1332-383T>C c.1330A>G (p.Ile444Val) c.1432A>G (p.Ile478Val) c.1372A>G (p.Ile458Val) n.3607-383T>C n.4043-383T>C c.1255A>G (p.Ile419Val) c.1273A>G (p.Ile425Val) c.1030A>G (p.Ile344Val) c.1063A>G (p.Ile355Val) c.1081A>G (p.Ile361Val) | |
2 | g.127428647A>T | CA348405739 | PROC | c.1087A>T (p.Ile363Phe) c.411A>T c.1189A>T (p.Ile397Phe) c.1270A>T (p.Ile424Phe) c.1252A>T (p.Ile418Phe) c.1150A>T (p.Ile384Phe) n.1332-383T>A c.1330A>T (p.Ile444Phe) c.1432A>T (p.Ile478Phe) c.1372A>T (p.Ile458Phe) n.3607-383T>A n.4043-383T>A c.1255A>T (p.Ile419Phe) c.1273A>T (p.Ile425Phe) c.1030A>T (p.Ile344Phe) c.1063A>T (p.Ile355Phe) c.1081A>T (p.Ile361Phe) | gnomAD v4 |
2 | g.127428648T>A | CA348405744 | PROC | c.1088T>A (p.Ile363Asn) c.412T>A c.1190T>A (p.Ile397Asn) c.1271T>A (p.Ile424Asn) c.1253T>A (p.Ile418Asn) c.1151T>A (p.Ile384Asn) n.1332-384A>T c.1331T>A (p.Ile444Asn) c.1433T>A (p.Ile478Asn) c.1373T>A (p.Ile458Asn) n.3607-384A>T n.4043-384A>T c.1256T>A (p.Ile419Asn) c.1274T>A (p.Ile425Asn) c.1031T>A (p.Ile344Asn) c.1064T>A (p.Ile355Asn) c.1082T>A (p.Ile361Asn) | |
2 | g.127428648T>C | CA348405743 | PROC | c.1088T>C (p.Ile363Thr) c.412T>C c.1190T>C (p.Ile397Thr) c.1271T>C (p.Ile424Thr) c.1253T>C (p.Ile418Thr) c.1151T>C (p.Ile384Thr) n.1332-384A>G c.1331T>C (p.Ile444Thr) c.1433T>C (p.Ile478Thr) c.1373T>C (p.Ile458Thr) n.3607-384A>G n.4043-384A>G c.1256T>C (p.Ile419Thr) c.1274T>C (p.Ile425Thr) c.1031T>C (p.Ile344Thr) c.1064T>C (p.Ile355Thr) c.1082T>C (p.Ile361Thr) | |
2 | g.127428648T>G | CA348405741 | PROC | c.1088T>G (p.Ile363Ser) c.412T>G c.1190T>G (p.Ile397Ser) c.1271T>G (p.Ile424Ser) c.1253T>G (p.Ile418Ser) c.1151T>G (p.Ile384Ser) n.1332-384A>C c.1331T>G (p.Ile444Ser) c.1433T>G (p.Ile478Ser) c.1373T>G (p.Ile458Ser) n.3607-384A>C n.4043-384A>C c.1256T>G (p.Ile419Ser) c.1274T>G (p.Ile425Ser) c.1031T>G (p.Ile344Ser) c.1064T>G (p.Ile355Ser) c.1082T>G (p.Ile361Ser) | |
2 | g.127428649C>A | CA428873031 | PROC | c.1089C>A (p.Ile363=) c.413C>A c.1191C>A (p.Ile397=) c.1272C>A (p.Ile424=) c.1254C>A (p.Ile418=) c.1152C>A (p.Ile384=) n.1332-385G>T c.1332C>A (p.Ile444=) c.1434C>A (p.Ile478=) c.1374C>A (p.Ile458=) n.3607-385G>T n.4043-385G>T c.1257C>A (p.Ile419=) c.1275C>A (p.Ile425=) c.1032C>A (p.Ile344=) c.1065C>A (p.Ile355=) c.1083C>A (p.Ile361=) | |
2 | g.127428649C>G | CA348405746 | PROC | c.1089C>G (p.Ile363Met) c.413C>G c.1191C>G (p.Ile397Met) c.1272C>G (p.Ile424Met) c.1254C>G (p.Ile418Met) c.1152C>G (p.Ile384Met) n.1332-385G>C c.1332C>G (p.Ile444Met) c.1434C>G (p.Ile478Met) c.1374C>G (p.Ile458Met) n.3607-385G>C n.4043-385G>C c.1257C>G (p.Ile419Met) c.1275C>G (p.Ile425Met) c.1032C>G (p.Ile344Met) c.1065C>G (p.Ile355Met) c.1083C>G (p.Ile361Met) | |
2 | g.127428649C>T | CA428873032 | PROC | c.1089C>T (p.Ile363=) c.413C>T c.1191C>T (p.Ile397=) c.1272C>T (p.Ile424=) c.1254C>T (p.Ile418=) c.1152C>T (p.Ile384=) n.1332-385G>A c.1332C>T (p.Ile444=) c.1434C>T (p.Ile478=) c.1374C>T (p.Ile458=) n.3607-385G>A n.4043-385G>A c.1257C>T (p.Ile419=) c.1275C>T (p.Ile425=) c.1032C>T (p.Ile344=) c.1065C>T (p.Ile355=) c.1083C>T (p.Ile361=) | |
2 | g.127428649_127428651del | CA2586969917 | PROC | c.1089_1091del (p.Ile363_Lys364delinsMet) c.413_415del c.1191_1193del (p.Ile397_Lys398delinsMet) c.1272_1274del (p.Ile424_Lys425delinsMet) c.1254_1256del (p.Ile418_Lys419delinsMet) c.1152_1154del (p.Ile384_Lys385delinsMet) n.1332-387_1332-385del c.1332_1334del (p.Ile444_Lys445delinsMet) c.1434_1436del (p.Ile478_Lys479delinsMet) c.1374_1376del (p.Ile458_Lys459delinsMet) n.3607-387_3607-385del n.4043-387_4043-385del c.1257_1259del (p.Ile419_Lys420delinsMet) c.1275_1277del (p.Ile425_Lys426delinsMet) c.1032_1034del (p.Ile344_Lys345delinsMet) c.1065_1067del (p.Ile355_Lys356delinsMet) c.1083_1085del (p.Ile361_Lys362delinsMet) | |
2 | g.127428650A>C | CA348405749 | PROC | c.1090A>C (p.Lys364Gln) c.414A>C c.1192A>C (p.Lys398Gln) c.1273A>C (p.Lys425Gln) c.1255A>C (p.Lys419Gln) c.1153A>C (p.Lys385Gln) n.1332-386T>G c.1333A>C (p.Lys445Gln) c.1435A>C (p.Lys479Gln) c.1375A>C (p.Lys459Gln) n.3607-386T>G n.4043-386T>G c.1258A>C (p.Lys420Gln) c.1276A>C (p.Lys426Gln) c.1033A>C (p.Lys345Gln) c.1066A>C (p.Lys356Gln) c.1084A>C (p.Lys362Gln) | |
2 | g.127428650A>G | CA348405750 | PROC | c.1090A>G (p.Lys364Glu) c.414A>G c.1192A>G (p.Lys398Glu) c.1273A>G (p.Lys425Glu) c.1255A>G (p.Lys419Glu) c.1153A>G (p.Lys385Glu) n.1332-386T>C c.1333A>G (p.Lys445Glu) c.1435A>G (p.Lys479Glu) c.1375A>G (p.Lys459Glu) n.3607-386T>C n.4043-386T>C c.1258A>G (p.Lys420Glu) c.1276A>G (p.Lys426Glu) c.1033A>G (p.Lys345Glu) c.1066A>G (p.Lys356Glu) c.1084A>G (p.Lys362Glu) | |
2 | g.127428650A>T | CA348405751 | PROC | c.1090A>T (p.Lys364Ter) c.414A>T c.1192A>T (p.Lys398Ter) c.1273A>T (p.Lys425Ter) c.1255A>T (p.Lys419Ter) c.1153A>T (p.Lys385Ter) n.1332-386T>A c.1333A>T (p.Lys445Ter) c.1435A>T (p.Lys479Ter) c.1375A>T (p.Lys459Ter) n.3607-386T>A n.4043-386T>A c.1258A>T (p.Lys420Ter) c.1276A>T (p.Lys426Ter) c.1033A>T (p.Lys345Ter) c.1066A>T (p.Lys356Ter) c.1084A>T (p.Lys362Ter) | |
2 | g.127428651A= | CA1286884566 | PROC | c.1091A= (p.Lys364=) c.415A= c.1193A= (p.Lys398=) c.1274A= (p.Lys425=) c.1256A= (p.Lys419=) c.1154A= (p.Lys385=) n.1332-387T= c.1334A= (p.Lys445=) c.1436A= (p.Lys479=) c.1376A= (p.Lys459=) n.3607-387T= n.4043-387T= c.1259A= (p.Lys420=) c.1277A= (p.Lys426=) c.1034A= (p.Lys345=) c.1067A= (p.Lys356=) c.1085A= (p.Lys362=) | |
2 | g.127428651A>C | CA348405754 | PROC | c.1091A>C (p.Lys364Thr) c.415A>C c.1193A>C (p.Lys398Thr) c.1274A>C (p.Lys425Thr) c.1256A>C (p.Lys419Thr) c.1154A>C (p.Lys385Thr) n.1332-387T>G c.1334A>C (p.Lys445Thr) c.1436A>C (p.Lys479Thr) c.1376A>C (p.Lys459Thr) n.3607-387T>G n.4043-387T>G c.1259A>C (p.Lys420Thr) c.1277A>C (p.Lys426Thr) c.1034A>C (p.Lys345Thr) c.1067A>C (p.Lys356Thr) c.1085A>C (p.Lys362Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428651A>G | CA348405755 | PROC | c.1091A>G (p.Lys364Arg) c.415A>G c.1193A>G (p.Lys398Arg) c.1274A>G (p.Lys425Arg) c.1256A>G (p.Lys419Arg) c.1154A>G (p.Lys385Arg) n.1332-387T>C c.1334A>G (p.Lys445Arg) c.1436A>G (p.Lys479Arg) c.1376A>G (p.Lys459Arg) n.3607-387T>C n.4043-387T>C c.1259A>G (p.Lys420Arg) c.1277A>G (p.Lys426Arg) c.1034A>G (p.Lys345Arg) c.1067A>G (p.Lys356Arg) c.1085A>G (p.Lys362Arg) | gnomAD v4 |
2 | g.127428651A>T | CA348405756 | PROC | c.1091A>T (p.Lys364Met) c.415A>T c.1193A>T (p.Lys398Met) c.1274A>T (p.Lys425Met) c.1256A>T (p.Lys419Met) c.1154A>T (p.Lys385Met) n.1332-387T>A c.1334A>T (p.Lys445Met) c.1436A>T (p.Lys479Met) c.1376A>T (p.Lys459Met) n.3607-387T>A n.4043-387T>A c.1259A>T (p.Lys420Met) c.1277A>T (p.Lys426Met) c.1034A>T (p.Lys345Met) c.1067A>T (p.Lys356Met) c.1085A>T (p.Lys362Met) |