| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559513A>C | CA368984422 | CFTR,CFTR-AS1 | c.1442A>C (p.Lys481Thr) c.*1156A>C (n.*1156A>C) c.1259A>C (p.Lys420Thr) c.1437A>C (p.Ter479Tyr) c.*1266A>C (n.*1266A>C) c.1016A>C (p.Lys339Thr) c.1352A>C (p.Lys451Thr) c.1532A>C (p.Lys511Thr) c.1199A>C (p.Lys400Thr) n.221+1220T>G | |
| 7 | g.117559513A>G | CA368984424 | CFTR,CFTR-AS1 | c.1442A>G (p.Lys481Arg) c.*1156A>G (n.*1156A>G) c.1259A>G (p.Lys420Arg) c.1437A>G (p.Ter479=) c.*1266A>G (n.*1266A>G) c.1016A>G (p.Lys339Arg) c.1352A>G (p.Lys451Arg) c.1532A>G (p.Lys511Arg) c.1199A>G (p.Lys400Arg) n.221+1220T>C | |
| 7 | g.117559513A>T | CA368984425 | CFTR,CFTR-AS1 | c.1442A>T (p.Lys481Ile) c.*1156A>T (n.*1156A>T) c.1259A>T (p.Lys420Ile) c.1437A>T (p.Ter479Tyr) c.*1266A>T (n.*1266A>T) c.1016A>T (p.Lys339Ile) c.1352A>T (p.Lys451Ile) c.1532A>T (p.Lys511Ile) c.1199A>T (p.Lys400Ile) n.221+1220T>A | |
| 7 | g.117559514A>C | CA368984427 | CFTR,CFTR-AS1 | c.1443A>C (p.Lys481Asn) c.*1157A>C (n.*1157A>C) c.1260A>C (p.Lys420Asn) c.*1A>C (n.*1A>C) c.*1267A>C (n.*1267A>C) c.1017A>C (p.Lys339Asn) c.1353A>C (p.Lys451Asn) c.1533A>C (p.Lys511Asn) c.1200A>C (p.Lys400Asn) n.221+1219T>G | |
| 7 | g.117559514A>G | CA457228771 | CFTR,CFTR-AS1 | c.1443A>G (p.Lys481=) c.*1157A>G (n.*1157A>G) c.1260A>G (p.Lys420=) c.*1A>G (n.*1A>G) c.*1267A>G (n.*1267A>G) c.1017A>G (p.Lys339=) c.1353A>G (p.Lys451=) c.1533A>G (p.Lys511=) c.1200A>G (p.Lys400=) n.221+1219T>C | |
| 7 | g.117559514A>T | CA368984428 | CFTR,CFTR-AS1 | c.1443A>T (p.Lys481Asn) c.*1157A>T (n.*1157A>T) c.1260A>T (p.Lys420Asn) c.*1A>T (n.*1A>T) c.*1267A>T (n.*1267A>T) c.1017A>T (p.Lys339Asn) c.1353A>T (p.Lys451Asn) c.1533A>T (p.Lys511Asn) c.1200A>T (p.Lys400Asn) n.221+1219T>A | |
| 7 | g.117559514_117559515insT | CA2695208320 | CFTR,CFTR-AS1 | c.1443_1444insT (p.Ile482TyrfsTer2) c.*1157_*1158insT (n.*1157_*1158insT) c.1260_1261insT (p.Ile421TyrfsTer2) c.*1_*2insT (n.*1_*2insT) c.*1267_*1268insT (n.*1267_*1268insT) c.1017_1018insT (p.Ile340TyrfsTer2) c.1353_1354insT (p.Ile452TyrfsTer2) c.1533_1534insT (p.Ile512TyrfsTer2) c.1200_1201insT (p.Ile401TyrfsTer2) n.221+1218_221+1219insA | |
| 7 | g.117559515A= | CA1737384269 | CFTR,CFTR-AS1 | c.1444A= (p.Ile482=) c.*1158A= (n.*1158A=) c.1261A= (p.Ile421=) c.*2A= (n.*2A=) c.*1268A= (n.*1268A=) c.1018A= (p.Ile340=) c.1354A= (p.Ile452=) c.1534A= (p.Ile512=) c.1201A= (p.Ile401=) n.221+1218T= | |
| 7 | g.117559515A>C | CA368984433 | CFTR,CFTR-AS1 | c.1444A>C (p.Ile482Leu) c.*1158A>C (n.*1158A>C) c.1261A>C (p.Ile421Leu) c.*2A>C (n.*2A>C) c.*1268A>C (n.*1268A>C) c.1018A>C (p.Ile340Leu) c.1354A>C (p.Ile452Leu) c.1534A>C (p.Ile512Leu) c.1201A>C (p.Ile401Leu) n.221+1218T>G | |
| 7 | g.117559515A>G | CA368984434 | CFTR,CFTR-AS1 | c.1444A>G (p.Ile482Val) c.*1158A>G (n.*1158A>G) c.1261A>G (p.Ile421Val) c.*2A>G (n.*2A>G) c.*1268A>G (n.*1268A>G) c.1018A>G (p.Ile340Val) c.1354A>G (p.Ile452Val) c.1534A>G (p.Ile512Val) c.1201A>G (p.Ile401Val) n.221+1218T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559515A>T | CA368984431 | CFTR,CFTR-AS1 | c.1444A>T (p.Ile482Phe) c.*1158A>T (n.*1158A>T) c.1261A>T (p.Ile421Phe) c.*2A>T (n.*2A>T) c.*1268A>T (n.*1268A>T) c.1018A>T (p.Ile340Phe) c.1354A>T (p.Ile452Phe) c.1534A>T (p.Ile512Phe) c.1201A>T (p.Ile401Phe) n.221+1218T>A | |
| 7 | g.117559516T>A | CA368984436 | CFTR,CFTR-AS1 | c.1445T>A (p.Ile482Asn) c.*1159T>A (n.*1159T>A) c.1262T>A (p.Ile421Asn) c.*3T>A (n.*3T>A) c.*1269T>A (n.*1269T>A) c.1019T>A (p.Ile340Asn) c.1355T>A (p.Ile452Asn) c.1535T>A (p.Ile512Asn) c.1202T>A (p.Ile401Asn) n.221+1217A>T | |
| 7 | g.117559516T>C | CA368984438 | CFTR,CFTR-AS1 | c.1445T>C (p.Ile482Thr) c.*1159T>C (n.*1159T>C) c.1262T>C (p.Ile421Thr) c.*3T>C (n.*3T>C) c.*1269T>C (n.*1269T>C) c.1019T>C (p.Ile340Thr) c.1355T>C (p.Ile452Thr) c.1535T>C (p.Ile512Thr) c.1202T>C (p.Ile401Thr) n.221+1217A>G | |
| 7 | g.117559516T>G | CA368984440 | CFTR,CFTR-AS1 | c.1445T>G (p.Ile482Ser) c.*1159T>G (n.*1159T>G) c.1262T>G (p.Ile421Ser) c.*3T>G (n.*3T>G) c.*1269T>G (n.*1269T>G) c.1019T>G (p.Ile340Ser) c.1355T>G (p.Ile452Ser) c.1535T>G (p.Ile512Ser) c.1202T>G (p.Ile401Ser) n.221+1217A>C | |
| 7 | g.117559517dup | CA326488 | CFTR,CFTR-AS1 | c.1446dup (p.Lys483Ter) c.*1160dup (n.*1160dup) c.1263dup (p.Lys422Ter) c.*4dup (n.*4dup) c.*1270dup (n.*1270dup) c.1020dup (p.Lys341Ter) c.1356dup (p.Lys453Ter) c.1536dup (p.Lys513Ter) c.1203dup (p.Lys402Ter) n.221+1217dup | ClinVar dbSNP |
| 7 | g.117559517T>A | CA164967692 | CFTR,CFTR-AS1 | c.1446T>A (p.Ile482=) c.*1160T>A (n.*1160T>A) c.1263T>A (p.Ile421=) c.*4T>A (n.*4T>A) c.*1270T>A (n.*1270T>A) c.1020T>A (p.Ile340=) c.1356T>A (p.Ile452=) c.1536T>A (p.Ile512=) c.1203T>A (p.Ile401=) n.221+1216A>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559517T>C | CA457228772 | CFTR,CFTR-AS1 | c.1446T>C (p.Ile482=) c.*1160T>C (n.*1160T>C) c.1263T>C (p.Ile421=) c.*4T>C (n.*4T>C) c.*1270T>C (n.*1270T>C) c.1020T>C (p.Ile340=) c.1356T>C (p.Ile452=) c.1536T>C (p.Ile512=) c.1203T>C (p.Ile401=) n.221+1216A>G | |
| 7 | g.117559517T>G | CA368984441 | CFTR,CFTR-AS1 | c.1446T>G (p.Ile482Met) c.*1160T>G (n.*1160T>G) c.1263T>G (p.Ile421Met) c.*4T>G (n.*4T>G) c.*1270T>G (n.*1270T>G) c.1020T>G (p.Ile340Met) c.1356T>G (p.Ile452Met) c.1536T>G (p.Ile512Met) c.1203T>G (p.Ile401Met) n.221+1216A>C | |
| 7 | g.117559517T= | CA1737384276 | CFTR,CFTR-AS1 | c.1446T= (p.Ile482=) c.*1160T= (n.*1160T=) c.1263T= (p.Ile421=) c.*4T= (n.*4T=) c.*1270T= (n.*1270T=) c.1020T= (p.Ile340=) c.1356T= (p.Ile452=) c.1536T= (p.Ile512=) c.1203T= (p.Ile401=) n.221+1216A= | |
| 7 | g.117559518A= | CA1737384283 | CFTR,CFTR-AS1 | c.1447A= (p.Lys483=) c.*1161A= (n.*1161A=) c.1264A= (p.Lys422=) c.*5A= (n.*5A=) c.*1271A= (n.*1271A=) c.1021A= (p.Lys341=) c.1357A= (p.Lys453=) c.1537A= (p.Lys513=) c.1204A= (p.Lys402=) n.221+1215T= | |
| 7 | g.117559518A>C | CA368984446 | CFTR,CFTR-AS1 | c.1447A>C (p.Lys483Gln) c.*1161A>C (n.*1161A>C) c.1264A>C (p.Lys422Gln) c.*5A>C (n.*5A>C) c.*1271A>C (n.*1271A>C) c.1021A>C (p.Lys341Gln) c.1357A>C (p.Lys453Gln) c.1537A>C (p.Lys513Gln) c.1204A>C (p.Lys402Gln) n.221+1215T>G | |
| 7 | g.117559518A>G | CA368984443 | CFTR,CFTR-AS1 | c.1447A>G (p.Lys483Glu) c.*1161A>G (n.*1161A>G) c.1264A>G (p.Lys422Glu) c.*5A>G (n.*5A>G) c.*1271A>G (n.*1271A>G) c.1021A>G (p.Lys341Glu) c.1357A>G (p.Lys453Glu) c.1537A>G (p.Lys513Glu) c.1204A>G (p.Lys402Glu) n.221+1215T>C | |
| 7 | g.117559518A>T | CA368984445 | CFTR,CFTR-AS1 | c.1447A>T (p.Lys483Ter) c.*1161A>T (n.*1161A>T) c.1264A>T (p.Lys422Ter) c.*5A>T (n.*5A>T) c.*1271A>T (n.*1271A>T) c.1021A>T (p.Lys341Ter) c.1357A>T (p.Lys453Ter) c.1537A>T (p.Lys513Ter) c.1204A>T (p.Lys402Ter) n.221+1215T>A | ClinVar dbSNP |
| 7 | g.117559519A>C | CA368984447 | CFTR,CFTR-AS1 | c.1448A>C (p.Lys483Thr) c.*1162A>C (n.*1162A>C) c.1265A>C (p.Lys422Thr) c.*6A>C (n.*6A>C) c.*1272A>C (n.*1272A>C) c.1022A>C (p.Lys341Thr) c.1358A>C (p.Lys453Thr) c.1538A>C (p.Lys513Thr) c.1205A>C (p.Lys402Thr) n.221+1214T>G | |
| 7 | g.117559519A>G | CA368984448 | CFTR,CFTR-AS1 | c.1448A>G (p.Lys483Arg) c.*1162A>G (n.*1162A>G) c.1265A>G (p.Lys422Arg) c.*6A>G (n.*6A>G) c.*1272A>G (n.*1272A>G) c.1022A>G (p.Lys341Arg) c.1358A>G (p.Lys453Arg) c.1538A>G (p.Lys513Arg) c.1205A>G (p.Lys402Arg) n.221+1214T>C | |
| 7 | g.117559519A>T | CA368984450 | CFTR,CFTR-AS1 | c.1448A>T (p.Lys483Met) c.*1162A>T (n.*1162A>T) c.1265A>T (p.Lys422Met) c.*6A>T (n.*6A>T) c.*1272A>T (n.*1272A>T) c.1022A>T (p.Lys341Met) c.1358A>T (p.Lys453Met) c.1538A>T (p.Lys513Met) c.1205A>T (p.Lys402Met) n.221+1214T>A | |
| 7 | g.117559520G>A | CA457228773 | CFTR,CFTR-AS1 | c.1449G>A (p.Lys483=) c.*1163G>A (n.*1163G>A) c.1266G>A (p.Lys422=) c.*7G>A (n.*7G>A) c.*1273G>A (n.*1273G>A) c.1023G>A (p.Lys341=) c.1359G>A (p.Lys453=) c.1539G>A (p.Lys513=) c.1206G>A (p.Lys402=) n.221+1213C>T | ClinVar |
| 7 | g.117559520G>C | CA368984452 | CFTR,CFTR-AS1 | c.1449G>C (p.Lys483Asn) c.*1163G>C (n.*1163G>C) c.1266G>C (p.Lys422Asn) c.*7G>C (n.*7G>C) c.*1273G>C (n.*1273G>C) c.1023G>C (p.Lys341Asn) c.1359G>C (p.Lys453Asn) c.1539G>C (p.Lys513Asn) c.1206G>C (p.Lys402Asn) n.221+1213C>G | |
| 7 | g.117559520G>T | CA368984453 | CFTR,CFTR-AS1 | c.1449G>T (p.Lys483Asn) c.*1163G>T (n.*1163G>T) c.1266G>T (p.Lys422Asn) c.*7G>T (n.*7G>T) c.*1273G>T (n.*1273G>T) c.1023G>T (p.Lys341Asn) c.1359G>T (p.Lys453Asn) c.1539G>T (p.Lys513Asn) c.1206G>T (p.Lys402Asn) n.221+1213C>A | |
| 7 | g.117559521C>A | CA368984457 | CFTR,CFTR-AS1 | c.1450C>A (p.His484Asn) c.*1164C>A (n.*1164C>A) c.1267C>A (p.His423Asn) c.*8C>A (n.*8C>A) c.*1274C>A (n.*1274C>A) c.1024C>A (p.His342Asn) c.1360C>A (p.His454Asn) c.1540C>A (p.His514Asn) c.1207C>A (p.His403Asn) n.221+1212G>T | |
| 7 | g.117559521C= | CA1737384290 | CFTR,CFTR-AS1 | c.1450C= (p.His484=) c.*1164C= (n.*1164C=) c.1267C= (p.His423=) c.*8C= (n.*8C=) c.*1274C= (n.*1274C=) c.1024C= (p.His342=) c.1360C= (p.His454=) c.1540C= (p.His514=) c.1207C= (p.His403=) n.221+1212G= | |
| 7 | g.117559521C>G | CA368984455 | CFTR,CFTR-AS1 | c.1450C>G (p.His484Asp) c.*1164C>G (n.*1164C>G) c.1267C>G (p.His423Asp) c.*8C>G (n.*8C>G) c.*1274C>G (n.*1274C>G) c.1024C>G (p.His342Asp) c.1360C>G (p.His454Asp) c.1540C>G (p.His514Asp) c.1207C>G (p.His403Asp) n.221+1212G>C | |
| 7 | g.117559521C>T | CA326489 | CFTR,CFTR-AS1 | c.1450C>T (p.His484Tyr) c.*1164C>T (n.*1164C>T) c.1267C>T (p.His423Tyr) c.*8C>T (n.*8C>T) c.*1274C>T (n.*1274C>T) c.1024C>T (p.His342Tyr) c.1360C>T (p.His454Tyr) c.1540C>T (p.His514Tyr) c.1207C>T (p.His403Tyr) n.221+1212G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559522A= | CA1737384294 | CFTR,CFTR-AS1 | c.1451A= (p.His484=) c.*1165A= (n.*1165A=) c.1268A= (p.His423=) c.*9A= (n.*9A=) c.*1275A= (n.*1275A=) c.1025A= (p.His342=) c.1361A= (p.His454=) c.1541A= (p.His514=) c.1208A= (p.His403=) n.221+1211T= | |
| 7 | g.117559522A>C | CA368984458 | CFTR,CFTR-AS1 | c.1451A>C (p.His484Pro) c.*1165A>C (n.*1165A>C) c.1268A>C (p.His423Pro) c.*9A>C (n.*9A>C) c.*1275A>C (n.*1275A>C) c.1025A>C (p.His342Pro) c.1361A>C (p.His454Pro) c.1541A>C (p.His514Pro) c.1208A>C (p.His403Pro) n.221+1211T>G | |
| 7 | g.117559522A>G | CA368984461 | CFTR,CFTR-AS1 | c.1451A>G (p.His484Arg) c.*1165A>G (n.*1165A>G) c.1268A>G (p.His423Arg) c.*9A>G (n.*9A>G) c.*1275A>G (n.*1275A>G) c.1025A>G (p.His342Arg) c.1361A>G (p.His454Arg) c.1541A>G (p.His514Arg) c.1208A>G (p.His403Arg) n.221+1211T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559522A>T | CA368984460 | CFTR,CFTR-AS1 | c.1451A>T (p.His484Leu) c.*1165A>T (n.*1165A>T) c.1268A>T (p.His423Leu) c.*9A>T (n.*9A>T) c.*1275A>T (n.*1275A>T) c.1025A>T (p.His342Leu) c.1361A>T (p.His454Leu) c.1541A>T (p.His514Leu) c.1208A>T (p.His403Leu) n.221+1211T>A | |
| 7 | g.117559523C>A | CA368984463 | CFTR,CFTR-AS1 | c.1452C>A (p.His484Gln) c.*1166C>A (n.*1166C>A) c.1269C>A (p.His423Gln) c.*10C>A (n.*10C>A) c.*1276C>A (n.*1276C>A) c.1026C>A (p.His342Gln) c.1362C>A (p.His454Gln) c.1542C>A (p.His514Gln) c.1209C>A (p.His403Gln) n.221+1210G>T | |
| 7 | g.117559523C>G | CA368984464 | CFTR,CFTR-AS1 | c.1452C>G (p.His484Gln) c.*1166C>G (n.*1166C>G) c.1269C>G (p.His423Gln) c.*10C>G (n.*10C>G) c.*1276C>G (n.*1276C>G) c.1026C>G (p.His342Gln) c.1362C>G (p.His454Gln) c.1542C>G (p.His514Gln) c.1209C>G (p.His403Gln) n.221+1210G>C | |
| 7 | g.117559523C>T | CA457228774 | CFTR,CFTR-AS1 | c.1452C>T (p.His484=) c.*1166C>T (n.*1166C>T) c.1269C>T (p.His423=) c.*10C>T (n.*10C>T) c.*1276C>T (n.*1276C>T) c.1026C>T (p.His342=) c.1362C>T (p.His454=) c.1542C>T (p.His514=) c.1209C>T (p.His403=) n.221+1210G>A | ClinVar |
| 7 | g.117559524A= | CA1737384297 | CFTR,CFTR-AS1 | c.1453A= (p.Ser485=) c.*1167A= (n.*1167A=) c.1270A= (p.Ser424=) c.*11A= (n.*11A=) c.*1277A= (n.*1277A=) c.1027A= (p.Ser343=) c.1363A= (p.Ser455=) c.1543A= (p.Ser515=) c.1210A= (p.Ser404=) n.221+1209T= | |
| 7 | g.117559524A>C | CA368984465 | CFTR,CFTR-AS1 | c.1453A>C (p.Ser485Arg) c.*1167A>C (n.*1167A>C) c.1270A>C (p.Ser424Arg) c.*11A>C (n.*11A>C) c.*1277A>C (n.*1277A>C) c.1027A>C (p.Ser343Arg) c.1363A>C (p.Ser455Arg) c.1543A>C (p.Ser515Arg) c.1210A>C (p.Ser404Arg) n.221+1209T>G | |
| 7 | g.117559524A>G | CA368984466 | CFTR,CFTR-AS1 | c.1453A>G (p.Ser485Gly) c.*1167A>G (n.*1167A>G) c.1270A>G (p.Ser424Gly) c.*11A>G (n.*11A>G) c.*1277A>G (n.*1277A>G) c.1027A>G (p.Ser343Gly) c.1363A>G (p.Ser455Gly) c.1543A>G (p.Ser515Gly) c.1210A>G (p.Ser404Gly) n.221+1209T>C | dbSNP gnomAD v2 |
| 7 | g.117559524A>T | CA326491 | CFTR,CFTR-AS1 | c.1453A>T (p.Ser485Cys) c.*1167A>T (n.*1167A>T) c.1270A>T (p.Ser424Cys) c.*11A>T (n.*11A>T) c.*1277A>T (n.*1277A>T) c.1027A>T (p.Ser343Cys) c.1363A>T (p.Ser455Cys) c.1543A>T (p.Ser515Cys) c.1210A>T (p.Ser404Cys) n.221+1209T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559525G>A | CA368984468 | CFTR,CFTR-AS1 | c.1454G>A (p.Ser485Asn) c.*1168G>A (n.*1168G>A) c.1271G>A (p.Ser424Asn) c.*12G>A (n.*12G>A) c.*1278G>A (n.*1278G>A) c.1028G>A (p.Ser343Asn) c.1364G>A (p.Ser455Asn) c.1544G>A (p.Ser515Asn) c.1211G>A (p.Ser404Asn) n.221+1208C>T | dbSNP gnomAD v2 |
| 7 | g.117559525G>C | CA4451006 | CFTR,CFTR-AS1 | c.1454G>C (p.Ser485Thr) c.*1168G>C (n.*1168G>C) c.1271G>C (p.Ser424Thr) c.*12G>C (n.*12G>C) c.*1278G>C (n.*1278G>C) c.1028G>C (p.Ser343Thr) c.1364G>C (p.Ser455Thr) c.1544G>C (p.Ser515Thr) c.1211G>C (p.Ser404Thr) n.221+1208C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559525G= | CA1737384305 | CFTR,CFTR-AS1 | c.1454G= (p.Ser485=) c.*1168G= (n.*1168G=) c.1271G= (p.Ser424=) c.*12G= (n.*12G=) c.*1278G= (n.*1278G=) c.1028G= (p.Ser343=) c.1364G= (p.Ser455=) c.1544G= (p.Ser515=) c.1211G= (p.Ser404=) n.221+1208C= | |
| 7 | g.117559525G>T | CA368984470 | CFTR,CFTR-AS1 | c.1454G>T (p.Ser485Ile) c.*1168G>T (n.*1168G>T) c.1271G>T (p.Ser424Ile) c.*12G>T (n.*12G>T) c.*1278G>T (n.*1278G>T) c.1028G>T (p.Ser343Ile) c.1364G>T (p.Ser455Ile) c.1544G>T (p.Ser515Ile) c.1211G>T (p.Ser404Ile) n.221+1208C>A | |
| 7 | g.117559526T>A | CA368984471 | CFTR,CFTR-AS1 | c.1455T>A (p.Ser485Arg) c.*1169T>A (n.*1169T>A) c.1272T>A (p.Ser424Arg) c.*13T>A (n.*13T>A) c.*1279T>A (n.*1279T>A) c.1029T>A (p.Ser343Arg) c.1365T>A (p.Ser455Arg) c.1545T>A (p.Ser515Arg) c.1212T>A (p.Ser404Arg) n.221+1207A>T | |
| 7 | g.117559526T>C | CA457228775 | CFTR,CFTR-AS1 | c.1455T>C (p.Ser485=) c.*1169T>C (n.*1169T>C) c.1272T>C (p.Ser424=) c.*13T>C (n.*13T>C) c.*1279T>C (n.*1279T>C) c.1029T>C (p.Ser343=) c.1365T>C (p.Ser455=) c.1545T>C (p.Ser515=) c.1212T>C (p.Ser404=) n.221+1207A>G | ClinVar |