UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49251692_49251694del | CA2428551395 | FOXP3 | c.1015_1017del (p.Phe339del) c.1120_1122del (p.Phe374del) c.1189_1191del (p.Phe397del) c.1039_1041del (p.Phe347del) c.*35_*37del (n.*35_*37del) c.970_972del (p.Phe324del) c.1339_1341del (p.Phe447del) c.1138_1140del (p.Phe380del) c.1375_1377del (p.Phe459del) c.1066_1068del (p.Phe356del) | ClinVar dbSNP |
| X | g.49251692A>C | CA412948736 | FOXP3 | c.1013T>G (p.Phe338Cys) c.1118T>G (p.Phe373Cys) c.1187T>G (p.Phe396Cys) c.1037T>G (p.Phe346Cys) c.*33T>G (n.*33T>G) c.968T>G (p.Phe323Cys) c.1337T>G (p.Phe446Cys) c.1136T>G (p.Phe379Cys) c.1373T>G (p.Phe458Cys) c.1064T>G (p.Phe355Cys) | |
| X | g.49251692A>G | CA412948741 | FOXP3 | c.1013T>C (p.Phe338Ser) c.1118T>C (p.Phe373Ser) c.1187T>C (p.Phe396Ser) c.1037T>C (p.Phe346Ser) c.*33T>C (n.*33T>C) c.968T>C (p.Phe323Ser) c.1337T>C (p.Phe446Ser) c.1136T>C (p.Phe379Ser) c.1373T>C (p.Phe458Ser) c.1064T>C (p.Phe355Ser) | |
| X | g.49251692A>T | CA412948739 | FOXP3 | c.1013T>A (p.Phe338Tyr) c.1118T>A (p.Phe373Tyr) c.1187T>A (p.Phe396Tyr) c.1037T>A (p.Phe346Tyr) c.*33T>A (n.*33T>A) c.968T>A (p.Phe323Tyr) c.1337T>A (p.Phe446Tyr) c.1136T>A (p.Phe379Tyr) c.1373T>A (p.Phe458Tyr) c.1064T>A (p.Phe355Tyr) | |
| X | g.49251692_49251693delinsAA | CA2428551397 | FOXP3 | c.1012_1013delinsTT (p.Phe338=) c.1117_1118delinsTT (p.Phe373=) c.1186_1187delinsTT (p.Phe396=) c.1036_1037delinsTT (p.Phe346=) c.*32_*33delinsTT (n.*32_*33delinsTT) c.967_968delinsTT (p.Phe323=) c.1336_1337delinsTT (p.Phe446=) c.1135_1136delinsTT (p.Phe379=) c.1372_1373delinsTT (p.Phe458=) c.1063_1064delinsTT (p.Phe355=) | |
| X | g.49251692_49251693delinsGC | CA255865 | FOXP3 | c.1012_1013delinsGC (p.Phe338Ala) c.1117_1118delinsGC (p.Phe373Ala) c.1186_1187delinsGC (p.Phe396Ala) c.1036_1037delinsGC (p.Phe346Ala) c.*32_*33delinsGC (n.*32_*33delinsGC) c.967_968delinsGC (p.Phe323Ala) c.1336_1337delinsGC (p.Phe446Ala) c.1135_1136delinsGC (p.Phe379Ala) c.1372_1373delinsGC (p.Phe458Ala) c.1063_1064delinsGC (p.Phe355Ala) | ClinVar dbSNP |
| X | g.49251693A>C | CA412948743 | FOXP3 | c.1012T>G (p.Phe338Val) c.1117T>G (p.Phe373Val) c.1186T>G (p.Phe396Val) c.1036T>G (p.Phe346Val) c.*32T>G (n.*32T>G) c.967T>G (p.Phe323Val) c.1336T>G (p.Phe446Val) c.1135T>G (p.Phe379Val) c.1372T>G (p.Phe458Val) c.1063T>G (p.Phe355Val) | |
| X | g.49251693A>G | CA412948744 | FOXP3 | c.1012T>C (p.Phe338Leu) c.1117T>C (p.Phe373Leu) c.1186T>C (p.Phe396Leu) c.1036T>C (p.Phe346Leu) c.*32T>C (n.*32T>C) c.967T>C (p.Phe323Leu) c.1336T>C (p.Phe446Leu) c.1135T>C (p.Phe379Leu) c.1372T>C (p.Phe458Leu) c.1063T>C (p.Phe355Leu) | |
| X | g.49251693A>T | CA412948746 | FOXP3 | c.1012T>A (p.Phe338Ile) c.1117T>A (p.Phe373Ile) c.1186T>A (p.Phe396Ile) c.1036T>A (p.Phe346Ile) c.*32T>A (n.*32T>A) c.967T>A (p.Phe323Ile) c.1336T>A (p.Phe446Ile) c.1135T>A (p.Phe379Ile) c.1372T>A (p.Phe458Ile) c.1063T>A (p.Phe355Ile) | |
| X | g.49251694G>A | CA516569863 | FOXP3 | c.1011C>T (p.Ala337=) c.1116C>T (p.Ala372=) c.1185C>T (p.Ala395=) c.1035C>T (p.Ala345=) c.*31C>T (n.*31C>T) c.966C>T (p.Ala322=) c.1335C>T (p.Ala445=) c.1134C>T (p.Ala378=) c.1371C>T (p.Ala457=) c.1062C>T (p.Ala354=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.49251694G>C | CA516569864 | FOXP3 | c.1011C>G (p.Ala337=) c.1116C>G (p.Ala372=) c.1185C>G (p.Ala395=) c.1035C>G (p.Ala345=) c.*31C>G (n.*31C>G) c.966C>G (p.Ala322=) c.1335C>G (p.Ala445=) c.1134C>G (p.Ala378=) c.1371C>G (p.Ala457=) c.1062C>G (p.Ala354=) | |
| X | g.49251694G= | CA2428551398 | FOXP3 | c.1011C= (p.Ala337=) c.1116C= (p.Ala372=) c.1185C= (p.Ala395=) c.1035C= (p.Ala345=) c.*31C= (n.*31C=) c.966C= (p.Ala322=) c.1335C= (p.Ala445=) c.1134C= (p.Ala378=) c.1371C= (p.Ala457=) c.1062C= (p.Ala354=) | |
| X | g.49251694G>T | CA516569865 | FOXP3 | c.1011C>A (p.Ala337=) c.1116C>A (p.Ala372=) c.1185C>A (p.Ala395=) c.1035C>A (p.Ala345=) c.*31C>A (n.*31C>A) c.966C>A (p.Ala322=) c.1335C>A (p.Ala445=) c.1134C>A (p.Ala378=) c.1371C>A (p.Ala457=) c.1062C>A (p.Ala354=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.49251695G>A | CA412948749 | FOXP3 | c.1010C>T (p.Ala337Val) c.1115C>T (p.Ala372Val) c.1184C>T (p.Ala395Val) c.1034C>T (p.Ala345Val) c.*30C>T (n.*30C>T) c.965C>T (p.Ala322Val) c.1334C>T (p.Ala445Val) c.1133C>T (p.Ala378Val) c.1370C>T (p.Ala457Val) c.1061C>T (p.Ala354Val) | COSMIC |
| X | g.49251695G>C | CA412948752 | FOXP3 | c.1010C>G (p.Ala337Gly) c.1115C>G (p.Ala372Gly) c.1184C>G (p.Ala395Gly) c.1034C>G (p.Ala345Gly) c.*30C>G (n.*30C>G) c.965C>G (p.Ala322Gly) c.1334C>G (p.Ala445Gly) c.1133C>G (p.Ala378Gly) c.1370C>G (p.Ala457Gly) c.1061C>G (p.Ala354Gly) | |
| X | g.49251695G>T | CA412948751 | FOXP3 | c.1010C>A (p.Ala337Asp) c.1115C>A (p.Ala372Asp) c.1184C>A (p.Ala395Asp) c.1034C>A (p.Ala345Asp) c.*30C>A (n.*30C>A) c.965C>A (p.Ala322Asp) c.1334C>A (p.Ala445Asp) c.1133C>A (p.Ala378Asp) c.1370C>A (p.Ala457Asp) c.1061C>A (p.Ala354Asp) | gnomAD v4 |
| X | g.49251696C>A | CA412948754 | FOXP3 | c.1009G>T (p.Ala337Ser) c.1114G>T (p.Ala372Ser) c.1183G>T (p.Ala395Ser) c.1033G>T (p.Ala345Ser) c.*29G>T (n.*29G>T) c.964G>T (p.Ala322Ser) c.1333G>T (p.Ala445Ser) c.1132G>T (p.Ala378Ser) c.1369G>T (p.Ala457Ser) c.1060G>T (p.Ala354Ser) | |
| X | g.49251696C>G | CA412948755 | FOXP3 | c.1009G>C (p.Ala337Pro) c.1114G>C (p.Ala372Pro) c.1183G>C (p.Ala395Pro) c.1033G>C (p.Ala345Pro) c.*29G>C (n.*29G>C) c.964G>C (p.Ala322Pro) c.1333G>C (p.Ala445Pro) c.1132G>C (p.Ala378Pro) c.1369G>C (p.Ala457Pro) c.1060G>C (p.Ala354Pro) | |
| X | g.49251696C>T | CA412948757 | FOXP3 | c.1009G>A (p.Ala337Thr) c.1114G>A (p.Ala372Thr) c.1183G>A (p.Ala395Thr) c.1033G>A (p.Ala345Thr) c.*29G>A (n.*29G>A) c.964G>A (p.Ala322Thr) c.1333G>A (p.Ala445Thr) c.1132G>A (p.Ala378Thr) c.1369G>A (p.Ala457Thr) c.1060G>A (p.Ala354Thr) | |
| X | g.49251697A>C | CA412948760 | FOXP3 | c.1008T>G (p.Phe336Leu) c.1113T>G (p.Phe371Leu) c.1182T>G (p.Phe394Leu) c.1032T>G (p.Phe344Leu) c.*28T>G (n.*28T>G) c.963T>G (p.Phe321Leu) c.1332T>G (p.Phe444Leu) c.1131T>G (p.Phe377Leu) c.1368T>G (p.Phe456Leu) c.1059T>G (p.Phe353Leu) | |
| X | g.49251697A>G | CA516569866 | FOXP3 | c.1008T>C (p.Phe336=) c.1113T>C (p.Phe371=) c.1182T>C (p.Phe394=) c.1032T>C (p.Phe344=) c.*28T>C (n.*28T>C) c.963T>C (p.Phe321=) c.1332T>C (p.Phe444=) c.1131T>C (p.Phe377=) c.1368T>C (p.Phe456=) c.1059T>C (p.Phe353=) | gnomAD v4 |
| X | g.49251697A>T | CA412948761 | FOXP3 | c.1008T>A (p.Phe336Leu) c.1113T>A (p.Phe371Leu) c.1182T>A (p.Phe394Leu) c.1032T>A (p.Phe344Leu) c.*28T>A (n.*28T>A) c.963T>A (p.Phe321Leu) c.1332T>A (p.Phe444Leu) c.1131T>A (p.Phe377Leu) c.1368T>A (p.Phe456Leu) c.1059T>A (p.Phe353Leu) | |
| X | g.49251698A= | CA2428551399 | FOXP3 | c.1007T= (p.Phe336=) c.1112T= (p.Phe371=) c.1181T= (p.Phe394=) c.1031T= (p.Phe344=) c.*27T= (n.*27T=) c.962T= (p.Phe321=) c.1331T= (p.Phe444=) c.1130T= (p.Phe377=) c.1367T= (p.Phe456=) c.1058T= (p.Phe353=) | |
| X | g.49251698A>C | CA255857 | FOXP3 | c.1007T>G (p.Phe336Cys) c.1112T>G (p.Phe371Cys) c.1181T>G (p.Phe394Cys) c.1031T>G (p.Phe344Cys) c.*27T>G (n.*27T>G) c.962T>G (p.Phe321Cys) c.1331T>G (p.Phe444Cys) c.1130T>G (p.Phe377Cys) c.1367T>G (p.Phe456Cys) c.1058T>G (p.Phe353Cys) | ClinVar dbSNP |
| X | g.49251698A>G | CA412948765 | FOXP3 | c.1007T>C (p.Phe336Ser) c.1112T>C (p.Phe371Ser) c.1181T>C (p.Phe394Ser) c.1031T>C (p.Phe344Ser) c.*27T>C (n.*27T>C) c.962T>C (p.Phe321Ser) c.1331T>C (p.Phe444Ser) c.1130T>C (p.Phe377Ser) c.1367T>C (p.Phe456Ser) c.1058T>C (p.Phe353Ser) | |
| X | g.49251698A>T | CA412948766 | FOXP3 | c.1007T>A (p.Phe336Tyr) c.1112T>A (p.Phe371Tyr) c.1181T>A (p.Phe394Tyr) c.1031T>A (p.Phe344Tyr) c.*27T>A (n.*27T>A) c.962T>A (p.Phe321Tyr) c.1331T>A (p.Phe444Tyr) c.1130T>A (p.Phe377Tyr) c.1367T>A (p.Phe456Tyr) c.1058T>A (p.Phe353Tyr) | |
| X | g.49251699A>C | CA412948770 | FOXP3 | c.1006T>G (p.Phe336Val) c.1111T>G (p.Phe371Val) c.1180T>G (p.Phe394Val) c.1030T>G (p.Phe344Val) c.*26T>G (n.*26T>G) c.961T>G (p.Phe321Val) c.1330T>G (p.Phe444Val) c.1129T>G (p.Phe377Val) c.1366T>G (p.Phe456Val) c.1057T>G (p.Phe353Val) | |
| X | g.49251699A>G | CA412948771 | FOXP3 | c.1006T>C (p.Phe336Leu) c.1111T>C (p.Phe371Leu) c.1180T>C (p.Phe394Leu) c.1030T>C (p.Phe344Leu) c.*26T>C (n.*26T>C) c.961T>C (p.Phe321Leu) c.1330T>C (p.Phe444Leu) c.1129T>C (p.Phe377Leu) c.1366T>C (p.Phe456Leu) c.1057T>C (p.Phe353Leu) | |
| X | g.49251699A>T | CA412948772 | FOXP3 | c.1006T>A (p.Phe336Ile) c.1111T>A (p.Phe371Ile) c.1180T>A (p.Phe394Ile) c.1030T>A (p.Phe344Ile) c.*26T>A (n.*26T>A) c.961T>A (p.Phe321Ile) c.1330T>A (p.Phe444Ile) c.1129T>A (p.Phe377Ile) c.1366T>A (p.Phe456Ile) c.1057T>A (p.Phe353Ile) | |
| X | g.49251700C>A | CA412948775 | FOXP3 | c.1005G>T (p.Met335Ile) c.1110G>T (p.Met370Ile) c.1179G>T (p.Met393Ile) c.1029G>T (p.Met343Ile) c.*25G>T (n.*25G>T) c.960G>T (p.Met320Ile) c.1329G>T (p.Met443Ile) c.1128G>T (p.Met376Ile) c.1365G>T (p.Met455Ile) c.1056G>T (p.Met352Ile) | |
| X | g.49251700C>G | CA412948779 | FOXP3 | c.1005G>C (p.Met335Ile) c.1110G>C (p.Met370Ile) c.1179G>C (p.Met393Ile) c.1029G>C (p.Met343Ile) c.*25G>C (n.*25G>C) c.960G>C (p.Met320Ile) c.1329G>C (p.Met443Ile) c.1128G>C (p.Met376Ile) c.1365G>C (p.Met455Ile) c.1056G>C (p.Met352Ile) | |
| X | g.49251700C>T | CA412948777 | FOXP3 | c.1005G>A (p.Met335Ile) c.1110G>A (p.Met370Ile) c.1179G>A (p.Met393Ile) c.1029G>A (p.Met343Ile) c.*25G>A (n.*25G>A) c.960G>A (p.Met320Ile) c.1329G>A (p.Met443Ile) c.1128G>A (p.Met376Ile) c.1365G>A (p.Met455Ile) c.1056G>A (p.Met352Ile) | ClinVar |
| X | g.49251701A>C | CA412948781 | FOXP3 | c.1004T>G (p.Met335Arg) c.1109T>G (p.Met370Arg) c.1178T>G (p.Met393Arg) c.1028T>G (p.Met343Arg) c.*24T>G (n.*24T>G) c.959T>G (p.Met320Arg) c.1328T>G (p.Met443Arg) c.1127T>G (p.Met376Arg) c.1364T>G (p.Met455Arg) c.1055T>G (p.Met352Arg) | |
| X | g.49251701A>G | CA412948783 | FOXP3 | c.1004T>C (p.Met335Thr) c.1109T>C (p.Met370Thr) c.1178T>C (p.Met393Thr) c.1028T>C (p.Met343Thr) c.*24T>C (n.*24T>C) c.959T>C (p.Met320Thr) c.1328T>C (p.Met443Thr) c.1127T>C (p.Met376Thr) c.1364T>C (p.Met455Thr) c.1055T>C (p.Met352Thr) | |
| X | g.49251701A>T | CA412948784 | FOXP3 | c.1004T>A (p.Met335Lys) c.1109T>A (p.Met370Lys) c.1178T>A (p.Met393Lys) c.1028T>A (p.Met343Lys) c.*24T>A (n.*24T>A) c.959T>A (p.Met320Lys) c.1328T>A (p.Met443Lys) c.1127T>A (p.Met376Lys) c.1364T>A (p.Met455Lys) c.1055T>A (p.Met352Lys) | |
| X | g.49251702T>A | CA412948788 | FOXP3 | c.1003A>T (p.Met335Leu) c.1108A>T (p.Met370Leu) c.1177A>T (p.Met393Leu) c.1027A>T (p.Met343Leu) c.*23A>T (n.*23A>T) c.958A>T (p.Met320Leu) c.1327A>T (p.Met443Leu) c.1126A>T (p.Met376Leu) c.1363A>T (p.Met455Leu) c.1054A>T (p.Met352Leu) | |
| X | g.49251702T>C | CA16043289 | FOXP3 | c.1003A>G (p.Met335Val) c.1108A>G (p.Met370Val) c.1177A>G (p.Met393Val) c.1027A>G (p.Met343Val) c.*23A>G (n.*23A>G) c.958A>G (p.Met320Val) c.1327A>G (p.Met443Val) c.1126A>G (p.Met376Val) c.1363A>G (p.Met455Val) c.1054A>G (p.Met352Val) | ClinVar dbSNP |
| X | g.49251702T>G | CA412948790 | FOXP3 | c.1003A>C (p.Met335Leu) c.1108A>C (p.Met370Leu) c.1177A>C (p.Met393Leu) c.1027A>C (p.Met343Leu) c.*23A>C (n.*23A>C) c.958A>C (p.Met320Leu) c.1327A>C (p.Met443Leu) c.1126A>C (p.Met376Leu) c.1363A>C (p.Met455Leu) c.1054A>C (p.Met352Leu) | |
| X | g.49251702T= | CA2428551400 | FOXP3 | c.1003A= (p.Met335=) c.1108A= (p.Met370=) c.1177A= (p.Met393=) c.1027A= (p.Met343=) c.*23A= (n.*23A=) c.958A= (p.Met320=) c.1327A= (p.Met443=) c.1126A= (p.Met376=) c.1363A= (p.Met455=) c.1054A= (p.Met352=) | |
| X | g.49251703G>A | CA516569867 | FOXP3 | c.1002C>T (p.Arg334=) c.1107C>T (p.Arg369=) c.1176C>T (p.Arg392=) c.1026C>T (p.Arg342=) c.*22C>T (n.*22C>T) c.957C>T (p.Arg319=) c.1326C>T (p.Arg442=) c.1125C>T (p.Arg375=) c.1362C>T (p.Arg454=) c.1053C>T (p.Arg351=) | |
| X | g.49251703G>C | CA516569868 | FOXP3 | c.1002C>G (p.Arg334=) c.1107C>G (p.Arg369=) c.1176C>G (p.Arg392=) c.1026C>G (p.Arg342=) c.*22C>G (n.*22C>G) c.957C>G (p.Arg319=) c.1326C>G (p.Arg442=) c.1125C>G (p.Arg375=) c.1362C>G (p.Arg454=) c.1053C>G (p.Arg351=) | |
| X | g.49251703G>T | CA516569869 | FOXP3 | c.1002C>A (p.Arg334=) c.1107C>A (p.Arg369=) c.1176C>A (p.Arg392=) c.1026C>A (p.Arg342=) c.*22C>A (n.*22C>A) c.957C>A (p.Arg319=) c.1326C>A (p.Arg442=) c.1125C>A (p.Arg375=) c.1362C>A (p.Arg454=) c.1053C>A (p.Arg351=) | |
| X | g.49251704C>A | CA412948792 | FOXP3 | c.1001G>T (p.Arg334Leu) c.1106G>T (p.Arg369Leu) c.1175G>T (p.Arg392Leu) c.1025G>T (p.Arg342Leu) c.*21G>T (n.*21G>T) c.956G>T (p.Arg319Leu) c.1325G>T (p.Arg442Leu) c.1124G>T (p.Arg375Leu) c.1361G>T (p.Arg454Leu) c.1052G>T (p.Arg351Leu) | |
| X | g.49251704C= | CA2428551401 | FOXP3 | c.1001G= (p.Arg334=) c.1106G= (p.Arg369=) c.1175G= (p.Arg392=) c.1025G= (p.Arg342=) c.*21G= (n.*21G=) c.956G= (p.Arg319=) c.1325G= (p.Arg442=) c.1124G= (p.Arg375=) c.1361G= (p.Arg454=) c.1052G= (p.Arg351=) | |
| X | g.49251704C>G | CA412948795 | FOXP3 | c.1001G>C (p.Arg334Pro) c.1106G>C (p.Arg369Pro) c.1175G>C (p.Arg392Pro) c.1025G>C (p.Arg342Pro) c.*21G>C (n.*21G>C) c.956G>C (p.Arg319Pro) c.1325G>C (p.Arg442Pro) c.1124G>C (p.Arg375Pro) c.1361G>C (p.Arg454Pro) c.1052G>C (p.Arg351Pro) | gnomAD v4 |
| X | g.49251704C>T | CA10411663 | FOXP3 | c.1001G>A (p.Arg334His) c.1106G>A (p.Arg369His) c.1175G>A (p.Arg392His) c.1025G>A (p.Arg342His) c.*21G>A (n.*21G>A) c.956G>A (p.Arg319His) c.1325G>A (p.Arg442His) c.1124G>A (p.Arg375His) c.1361G>A (p.Arg454His) c.1052G>A (p.Arg351His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49251705G>A | CA412948797 | FOXP3 | c.1000C>T (p.Arg334Cys) c.1105C>T (p.Arg369Cys) c.1174C>T (p.Arg392Cys) c.1024C>T (p.Arg342Cys) c.*20C>T (n.*20C>T) c.955C>T (p.Arg319Cys) c.1324C>T (p.Arg442Cys) c.1123C>T (p.Arg375Cys) c.1360C>T (p.Arg454Cys) c.1051C>T (p.Arg351Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49251705G>C | CA412948799 | FOXP3 | c.1000C>G (p.Arg334Gly) c.1105C>G (p.Arg369Gly) c.1174C>G (p.Arg392Gly) c.1024C>G (p.Arg342Gly) c.*20C>G (n.*20C>G) c.955C>G (p.Arg319Gly) c.1324C>G (p.Arg442Gly) c.1123C>G (p.Arg375Gly) c.1360C>G (p.Arg454Gly) c.1051C>G (p.Arg351Gly) | |
| X | g.49251705G= | CA2428551402 | FOXP3 | c.1000C= (p.Arg334=) c.1105C= (p.Arg369=) c.1174C= (p.Arg392=) c.1024C= (p.Arg342=) c.*20C= (n.*20C=) c.955C= (p.Arg319=) c.1324C= (p.Arg442=) c.1123C= (p.Arg375=) c.1360C= (p.Arg454=) c.1051C= (p.Arg351=) | |
| X | g.49251705G>T | CA412948802 | FOXP3 | c.1000C>A (p.Arg334Ser) c.1105C>A (p.Arg369Ser) c.1174C>A (p.Arg392Ser) c.1024C>A (p.Arg342Ser) c.*20C>A (n.*20C>A) c.955C>A (p.Arg319Ser) c.1324C>A (p.Arg442Ser) c.1123C>A (p.Arg375Ser) c.1360C>A (p.Arg454Ser) c.1051C>A (p.Arg351Ser) | gnomAD v4 |