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 |
|---|---|---|---|---|---|
| 7 | g.117559466T>A | CA457228733 | CFTR,CFTR-AS1 | c.1395T>A (p.Thr465=) c.*1109T>A (n.*1109T>A) c.1212T>A (p.Thr404=) c.1390T>A (p.Phe464Ile) c.*1219T>A (n.*1219T>A) c.969T>A (p.Thr323=) c.1305T>A (p.Thr435=) c.1485T>A (p.Thr495=) c.1152T>A (p.Thr384=) n.221+1267A>T | gnomAD v4 |
| 7 | g.117559466T>C | CA457228734 | CFTR,CFTR-AS1 | c.1395T>C (p.Thr465=) c.*1109T>C (n.*1109T>C) c.1212T>C (p.Thr404=) c.1390T>C (p.Phe464Leu) c.*1219T>C (n.*1219T>C) c.969T>C (p.Thr323=) c.1305T>C (p.Thr435=) c.1485T>C (p.Thr495=) c.1152T>C (p.Thr384=) n.221+1267A>G | ClinVar gnomAD v4 |
| 7 | g.117559466T>G | CA457228735 | CFTR,CFTR-AS1 | c.1395T>G (p.Thr465=) c.*1109T>G (n.*1109T>G) c.1212T>G (p.Thr404=) c.1390T>G (p.Phe464Val) c.*1219T>G (n.*1219T>G) c.969T>G (p.Thr323=) c.1305T>G (p.Thr435=) c.1485T>G (p.Thr495=) c.1152T>G (p.Thr384=) n.221+1267A>C | |
| 7 | g.117559467T>A | CA368984302 | CFTR,CFTR-AS1 | c.1396T>A (p.Ser466Thr) c.*1110T>A (n.*1110T>A) c.1213T>A (p.Ser405Thr) c.1391T>A (p.Phe464Tyr) c.*1220T>A (n.*1220T>A) c.970T>A (p.Ser324Thr) c.1306T>A (p.Ser436Thr) c.1486T>A (p.Ser496Thr) c.1153T>A (p.Ser385Thr) n.221+1266A>T | |
| 7 | g.117559467T>C | CA368984303 | CFTR,CFTR-AS1 | c.1396T>C (p.Ser466Pro) c.*1110T>C (n.*1110T>C) c.1213T>C (p.Ser405Pro) c.1391T>C (p.Phe464Ser) c.*1220T>C (n.*1220T>C) c.970T>C (p.Ser324Pro) c.1306T>C (p.Ser436Pro) c.1486T>C (p.Ser496Pro) c.1153T>C (p.Ser385Pro) n.221+1266A>G | |
| 7 | g.117559467T>G | CA368984304 | CFTR,CFTR-AS1 | c.1396T>G (p.Ser466Ala) c.*1110T>G (n.*1110T>G) c.1213T>G (p.Ser405Ala) c.1391T>G (p.Phe464Cys) c.*1220T>G (n.*1220T>G) c.970T>G (p.Ser324Ala) c.1306T>G (p.Ser436Ala) c.1486T>G (p.Ser496Ala) c.1153T>G (p.Ser385Ala) n.221+1266A>C | |
| 7 | g.117559468C>A | CA328085 | CFTR,CFTR-AS1 | c.1397C>A (p.Ser466Ter) c.*1111C>A (n.*1111C>A) c.1214C>A (p.Ser405Ter) c.1392C>A (p.Phe464Leu) c.*1221C>A (n.*1221C>A) c.971C>A (p.Ser324Ter) c.1307C>A (p.Ser436Ter) c.1487C>A (p.Ser496Ter) c.1154C>A (p.Ser385Ter) n.221+1265G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559468C= | CA1737384062 | CFTR,CFTR-AS1 | c.1397C= (p.Ser466=) c.*1111C= (n.*1111C=) c.1214C= (p.Ser405=) c.1392C= (p.Phe464=) c.*1221C= (n.*1221C=) c.971C= (p.Ser324=) c.1307C= (p.Ser436=) c.1487C= (p.Ser496=) c.1154C= (p.Ser385=) n.221+1265G= | |
| 7 | g.117559468C>G | CA342833 | CFTR,CFTR-AS1 | c.1397C>G (p.Ser466Ter) c.*1111C>G (n.*1111C>G) c.1214C>G (p.Ser405Ter) c.1392C>G (p.Phe464Leu) c.*1221C>G (n.*1221C>G) c.971C>G (p.Ser324Ter) c.1307C>G (p.Ser436Ter) c.1487C>G (p.Ser496Ter) c.1154C>G (p.Ser385Ter) n.221+1265G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117559468C>G;117611650G>A] | CA913203341 | CFTR | c.[1397C>G;3209G>A] (p.Ser466Ter) c.[*1111C>G;*2923G>A] (n.[*1111C>G;*2923G>A]) c.[1214C>G;3026G>A] (p.Ser405Ter) c.[1397C>G;*1509G>A] (p.Ser466Ter) c.[*1221C>G;*3033G>A] (n.[*1221C>G;*3033G>A]) c.[971C>G;2783G>A] (p.Ser324Ter) c.[1214C>G;1991G>A] (p.Ser405Ter) c.[1307C>G;3119G>A] (p.Ser436Ter) c.[1487C>G;3299G>A] (p.Ser496Ter) c.[1154C>G;2966G>A] (p.Ser385Ter) | ClinVar |
| 7 | g.117559468C>T | CA326469 | CFTR,CFTR-AS1 | c.1397C>T (p.Ser466Leu) c.*1111C>T (n.*1111C>T) c.1214C>T (p.Ser405Leu) c.1392C>T (p.Phe464=) c.*1221C>T (n.*1221C>T) c.971C>T (p.Ser324Leu) c.1307C>T (p.Ser436Leu) c.1487C>T (p.Ser496Leu) c.1154C>T (p.Ser385Leu) n.221+1265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117559469A>C | CA457228738 | CFTR,CFTR-AS1 | c.1398A>C (p.Ser466=) c.*1112A>C (n.*1112A>C) c.1215A>C (p.Ser405=) c.1393A>C (p.Thr465Pro) c.*1222A>C (n.*1222A>C) c.972A>C (p.Ser324=) c.1308A>C (p.Ser436=) c.1488A>C (p.Ser496=) c.1155A>C (p.Ser385=) n.221+1264T>G | |
| 7 | g.117559469A>G | CA457228737 | CFTR,CFTR-AS1 | c.1398A>G (p.Ser466=) c.*1112A>G (n.*1112A>G) c.1215A>G (p.Ser405=) c.1393A>G (p.Thr465Ala) c.*1222A>G (n.*1222A>G) c.972A>G (p.Ser324=) c.1308A>G (p.Ser436=) c.1488A>G (p.Ser496=) c.1155A>G (p.Ser385=) n.221+1264T>C | |
| 7 | g.117559469A>T | CA457228736 | CFTR,CFTR-AS1 | c.1398A>T (p.Ser466=) c.*1112A>T (n.*1112A>T) c.1215A>T (p.Ser405=) c.1393A>T (p.Thr465Ser) c.*1222A>T (n.*1222A>T) c.972A>T (p.Ser324=) c.1308A>T (p.Ser436=) c.1488A>T (p.Ser496=) c.1155A>T (p.Ser385=) n.221+1264T>A | |
| 7 | g.117559470C>A | CA368984306 | CFTR,CFTR-AS1 | c.1399C>A (p.Leu467Ile) c.*1113C>A (n.*1113C>A) c.1216C>A (p.Leu406Ile) c.1394C>A (p.Thr465Asn) c.*1223C>A (n.*1223C>A) c.973C>A (p.Leu325Ile) c.1309C>A (p.Leu437Ile) c.1489C>A (p.Leu497Ile) c.1156C>A (p.Leu386Ile) n.221+1263G>T | gnomAD v4 |
| 7 | g.117559470C= | CA1737384069 | CFTR,CFTR-AS1 | c.1399C= (p.Leu467=) c.*1113C= (n.*1113C=) c.1216C= (p.Leu406=) c.1394C= (p.Thr465=) c.*1223C= (n.*1223C=) c.973C= (p.Leu325=) c.1309C= (p.Leu437=) c.1489C= (p.Leu497=) c.1156C= (p.Leu386=) n.221+1263G= | |
| 7 | g.117559470C>G | CA368984305 | CFTR,CFTR-AS1 | c.1399C>G (p.Leu467Val) c.*1113C>G (n.*1113C>G) c.1216C>G (p.Leu406Val) c.1394C>G (p.Thr465Ser) c.*1223C>G (n.*1223C>G) c.973C>G (p.Leu325Val) c.1309C>G (p.Leu437Val) c.1489C>G (p.Leu497Val) c.1156C>G (p.Leu386Val) n.221+1263G>C | |
| 7 | g.117559470C>T | CA326471 | CFTR,CFTR-AS1 | c.1399C>T (p.Leu467Phe) c.*1113C>T (n.*1113C>T) c.1216C>T (p.Leu406Phe) c.1394C>T (p.Thr465Ile) c.*1223C>T (n.*1223C>T) c.973C>T (p.Leu325Phe) c.1309C>T (p.Leu437Phe) c.1489C>T (p.Leu497Phe) c.1156C>T (p.Leu386Phe) n.221+1263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559471T>A | CA368984307 | CFTR,CFTR-AS1 | c.1400T>A (p.Leu467His) c.*1114T>A (n.*1114T>A) c.1217T>A (p.Leu406His) c.1395T>A (p.Thr465=) c.*1224T>A (n.*1224T>A) c.974T>A (p.Leu325His) c.1310T>A (p.Leu437His) c.1490T>A (p.Leu497His) c.1157T>A (p.Leu386His) n.221+1262A>T | |
| 7 | g.117559471T>C | CA342834 | CFTR,CFTR-AS1 | c.1400T>C (p.Leu467Pro) c.*1114T>C (n.*1114T>C) c.1217T>C (p.Leu406Pro) c.1395T>C (p.Thr465=) c.*1224T>C (n.*1224T>C) c.974T>C (p.Leu325Pro) c.1310T>C (p.Leu437Pro) c.1490T>C (p.Leu497Pro) c.1157T>C (p.Leu386Pro) n.221+1262A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559471T>G | CA368984308 | CFTR,CFTR-AS1 | c.1400T>G (p.Leu467Arg) c.*1114T>G (n.*1114T>G) c.1217T>G (p.Leu406Arg) c.1395T>G (p.Thr465=) c.*1224T>G (n.*1224T>G) c.974T>G (p.Leu325Arg) c.1310T>G (p.Leu437Arg) c.1490T>G (p.Leu497Arg) c.1157T>G (p.Leu386Arg) n.221+1262A>C | |
| 7 | g.117559471T= | CA1737384078 | CFTR,CFTR-AS1 | c.1400T= (p.Leu467=) c.*1114T= (n.*1114T=) c.1217T= (p.Leu406=) c.1395T= (p.Thr465=) c.*1224T= (n.*1224T=) c.974T= (p.Leu325=) c.1310T= (p.Leu437=) c.1490T= (p.Leu497=) c.1157T= (p.Leu386=) n.221+1262A= | |
| 7 | g.117559472T>A | CA457228740 | CFTR,CFTR-AS1 | c.1401T>A (p.Leu467=) c.*1115T>A (n.*1115T>A) c.1218T>A (p.Leu406=) c.1396T>A (p.Ser466Thr) c.*1225T>A (n.*1225T>A) c.975T>A (p.Leu325=) c.1311T>A (p.Leu437=) c.1491T>A (p.Leu497=) c.1158T>A (p.Leu386=) n.221+1261A>T | |
| 7 | g.117559472T>C | CA457228741 | CFTR,CFTR-AS1 | c.1401T>C (p.Leu467=) c.*1115T>C (n.*1115T>C) c.1218T>C (p.Leu406=) c.1396T>C (p.Ser466Pro) c.*1225T>C (n.*1225T>C) c.975T>C (p.Leu325=) c.1311T>C (p.Leu437=) c.1491T>C (p.Leu497=) c.1158T>C (p.Leu386=) n.221+1261A>G | ClinVar |
| 7 | g.117559472T>G | CA457228742 | CFTR,CFTR-AS1 | c.1401T>G (p.Leu467=) c.*1115T>G (n.*1115T>G) c.1218T>G (p.Leu406=) c.1396T>G (p.Ser466Ala) c.*1225T>G (n.*1225T>G) c.975T>G (p.Leu325=) c.1311T>G (p.Leu437=) c.1491T>G (p.Leu497=) c.1158T>G (p.Leu386=) n.221+1261A>C | |
| 7 | g.117559473C>A | CA368984309 | CFTR,CFTR-AS1 | c.1402C>A (p.Leu468Ile) c.*1116C>A (n.*1116C>A) c.1219C>A (p.Leu407Ile) c.1397C>A (p.Ser466Tyr) c.*1226C>A (n.*1226C>A) c.976C>A (p.Leu326Ile) c.1312C>A (p.Leu438Ile) c.1492C>A (p.Leu498Ile) c.1159C>A (p.Leu387Ile) n.221+1260G>T | gnomAD v4 |
| 7 | g.117559473C>G | CA368984310 | CFTR,CFTR-AS1 | c.1402C>G (p.Leu468Val) c.*1116C>G (n.*1116C>G) c.1219C>G (p.Leu407Val) c.1397C>G (p.Ser466Cys) c.*1226C>G (n.*1226C>G) c.976C>G (p.Leu326Val) c.1312C>G (p.Leu438Val) c.1492C>G (p.Leu498Val) c.1159C>G (p.Leu387Val) n.221+1260G>C | |
| 7 | g.117559473C>T | CA457228743 | CFTR,CFTR-AS1 | c.1402C>T (p.Leu468=) c.*1116C>T (n.*1116C>T) c.1219C>T (p.Leu407=) c.1397C>T (p.Ser466Phe) c.*1226C>T (n.*1226C>T) c.976C>T (p.Leu326=) c.1312C>T (p.Leu438=) c.1492C>T (p.Leu498=) c.1159C>T (p.Leu387=) n.221+1260G>A | ClinVar |
| 7 | g.117559474T>A | CA368984311 | CFTR,CFTR-AS1 | c.1403T>A (p.Leu468Gln) c.*1117T>A (n.*1117T>A) c.1220T>A (p.Leu407Gln) c.1398T>A (p.Ser466=) c.*1227T>A (n.*1227T>A) c.977T>A (p.Leu326Gln) c.1313T>A (p.Leu438Gln) c.1493T>A (p.Leu498Gln) c.1160T>A (p.Leu387Gln) n.221+1259A>T | |
| 7 | g.117559474T>C | CA326473 | CFTR,CFTR-AS1 | c.1403T>C (p.Leu468Pro) c.*1117T>C (n.*1117T>C) c.1220T>C (p.Leu407Pro) c.1398T>C (p.Ser466=) c.*1227T>C (n.*1227T>C) c.977T>C (p.Leu326Pro) c.1313T>C (p.Leu438Pro) c.1493T>C (p.Leu498Pro) c.1160T>C (p.Leu387Pro) n.221+1259A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559474T>G | CA368984312 | CFTR,CFTR-AS1 | c.1403T>G (p.Leu468Arg) c.*1117T>G (n.*1117T>G) c.1220T>G (p.Leu407Arg) c.1398T>G (p.Ser466=) c.*1227T>G (n.*1227T>G) c.977T>G (p.Leu326Arg) c.1313T>G (p.Leu438Arg) c.1493T>G (p.Leu498Arg) c.1160T>G (p.Leu387Arg) n.221+1259A>C | |
| 7 | g.117559474T= | CA1737384086 | CFTR,CFTR-AS1 | c.1403T= (p.Leu468=) c.*1117T= (n.*1117T=) c.1220T= (p.Leu407=) c.1398T= (p.Ser466=) c.*1227T= (n.*1227T=) c.977T= (p.Leu326=) c.1313T= (p.Leu438=) c.1493T= (p.Leu498=) c.1160T= (p.Leu387=) n.221+1259A= | |
| 7 | g.117559475A>C | CA457228745 | CFTR,CFTR-AS1 | c.1404A>C (p.Leu468=) c.*1118A>C (n.*1118A>C) c.1221A>C (p.Leu407=) c.1399A>C (p.Asn467His) c.*1228A>C (n.*1228A>C) c.978A>C (p.Leu326=) c.1314A>C (p.Leu438=) c.1494A>C (p.Leu498=) c.1161A>C (p.Leu387=) n.221+1258T>G | |
| 7 | g.117559475A>G | CA457228747 | CFTR,CFTR-AS1 | c.1404A>G (p.Leu468=) c.*1118A>G (n.*1118A>G) c.1221A>G (p.Leu407=) c.1399A>G (p.Asn467Asp) c.*1228A>G (n.*1228A>G) c.978A>G (p.Leu326=) c.1314A>G (p.Leu438=) c.1494A>G (p.Leu498=) c.1161A>G (p.Leu387=) n.221+1258T>C | |
| 7 | g.117559475A>T | CA457228746 | CFTR,CFTR-AS1 | c.1404A>T (p.Leu468=) c.*1118A>T (n.*1118A>T) c.1221A>T (p.Leu407=) c.1399A>T (p.Asn467Tyr) c.*1228A>T (n.*1228A>T) c.978A>T (p.Leu326=) c.1314A>T (p.Leu438=) c.1494A>T (p.Leu498=) c.1161A>T (p.Leu387=) n.221+1258T>A | |
| 7 | g.117559476A= | CA1737384097 | CFTR,CFTR-AS1 | c.1405A= (p.Met469=) c.*1119A= (n.*1119A=) c.1222A= (p.Met408=) c.1400A= (p.Asn467=) c.*1229A= (n.*1229A=) c.979A= (p.Met327=) c.1315A= (p.Met439=) c.1495A= (p.Met499=) c.1162A= (p.Met388=) n.221+1257T= | |
| 7 | g.117559476A>C | CA368984313 | CFTR,CFTR-AS1 | c.1405A>C (p.Met469Leu) c.*1119A>C (n.*1119A>C) c.1222A>C (p.Met408Leu) c.1400A>C (p.Asn467Thr) c.*1229A>C (n.*1229A>C) c.979A>C (p.Met327Leu) c.1315A>C (p.Met439Leu) c.1495A>C (p.Met499Leu) c.1162A>C (p.Met388Leu) n.221+1257T>G | |
| 7 | g.117559476A>G | CA326475 | CFTR,CFTR-AS1 | c.1405A>G (p.Met469Val) c.*1119A>G (n.*1119A>G) c.1222A>G (p.Met408Val) c.1400A>G (p.Asn467Ser) c.*1229A>G (n.*1229A>G) c.979A>G (p.Met327Val) c.1315A>G (p.Met439Val) c.1495A>G (p.Met499Val) c.1162A>G (p.Met388Val) n.221+1257T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559476A>T | CA368984314 | CFTR,CFTR-AS1 | c.1405A>T (p.Met469Leu) c.*1119A>T (n.*1119A>T) c.1222A>T (p.Met408Leu) c.1400A>T (p.Asn467Ile) c.*1229A>T (n.*1229A>T) c.979A>T (p.Met327Leu) c.1315A>T (p.Met439Leu) c.1495A>T (p.Met499Leu) c.1162A>T (p.Met388Leu) n.221+1257T>A | ClinVar |
| 7 | g.117559477T>A | CA368984315 | CFTR,CFTR-AS1 | c.1406T>A (p.Met469Lys) c.*1120T>A (n.*1120T>A) c.1223T>A (p.Met408Lys) c.1401T>A (p.Asn467Lys) c.*1230T>A (n.*1230T>A) c.980T>A (p.Met327Lys) c.1316T>A (p.Met439Lys) c.1496T>A (p.Met499Lys) c.1163T>A (p.Met388Lys) n.221+1256A>T | |
| 7 | g.117559477T>C | CA368984316 | CFTR,CFTR-AS1 | c.1406T>C (p.Met469Thr) c.*1120T>C (n.*1120T>C) c.1223T>C (p.Met408Thr) c.1401T>C (p.Asn467=) c.*1230T>C (n.*1230T>C) c.980T>C (p.Met327Thr) c.1316T>C (p.Met439Thr) c.1496T>C (p.Met499Thr) c.1163T>C (p.Met388Thr) n.221+1256A>G | gnomAD v4 |
| 7 | g.117559477T>G | CA368984317 | CFTR,CFTR-AS1 | c.1406T>G (p.Met469Arg) c.*1120T>G (n.*1120T>G) c.1223T>G (p.Met408Arg) c.1401T>G (p.Asn467Lys) c.*1230T>G (n.*1230T>G) c.980T>G (p.Met327Arg) c.1316T>G (p.Met439Arg) c.1496T>G (p.Met499Arg) c.1163T>G (p.Met388Arg) n.221+1256A>C | |
| 7 | g.117559477_117559487delinsTGGTGATTATG | CA1737384101 | CFTR,CFTR-AS1 | c.1406_1416delinsTGGTGATTATG (p.Met469=) c.*1120_*1130delinsTGGTGATTATG (n.*1120_*1130delinsTGGTGATTATG) c.1223_1233delinsTGGTGATTATG (p.Met408=) c.1401_1411delinsTGGTGATTATG (p.Asn467=) c.*1230_*1240delinsTGGTGATTATG (n.*1230_*1240delinsTGGTGATTATG) c.980_990delinsTGGTGATTATG (p.Met327=) c.1316_1326delinsTGGTGATTATG (p.Met439=) c.1496_1506delinsTGGTGATTATG (p.Met499=) c.1163_1173delinsTGGTGATTATG (p.Met388=) n.221+1246_221+1256delinsCATAATCACCA | |
| 7 | g.117559478G>A | CA4451002 | CFTR,CFTR-AS1 | c.1407G>A (p.Met469Ile) c.*1121G>A (n.*1121G>A) c.1224G>A (p.Met408Ile) c.1402G>A (p.Gly468Ser) c.*1231G>A (n.*1231G>A) c.981G>A (p.Met327Ile) c.1317G>A (p.Met439Ile) c.1497G>A (p.Met499Ile) c.1164G>A (p.Met388Ile) n.221+1255C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117559478G>C | CA368984318 | CFTR,CFTR-AS1 | c.1407G>C (p.Met469Ile) c.*1121G>C (n.*1121G>C) c.1224G>C (p.Met408Ile) c.1402G>C (p.Gly468Arg) c.*1231G>C (n.*1231G>C) c.981G>C (p.Met327Ile) c.1317G>C (p.Met439Ile) c.1497G>C (p.Met499Ile) c.1164G>C (p.Met388Ile) n.221+1255C>G | |
| 7 | g.117559478G= | CA1737384114 | CFTR,CFTR-AS1 | c.1407G= (p.Met469=) c.*1121G= (n.*1121G=) c.1224G= (p.Met408=) c.1402G= (p.Gly468=) c.*1231G= (n.*1231G=) c.981G= (p.Met327=) c.1317G= (p.Met439=) c.1497G= (p.Met499=) c.1164G= (p.Met388=) n.221+1255C= | |
| 7 | g.117559478G>T | CA326477 | CFTR,CFTR-AS1 | c.1407G>T (p.Met469Ile) c.*1121G>T (n.*1121G>T) c.1224G>T (p.Met408Ile) c.1402G>T (p.Gly468Cys) c.*1231G>T (n.*1231G>T) c.981G>T (p.Met327Ile) c.1317G>T (p.Met439Ile) c.1497G>T (p.Met499Ile) c.1164G>T (p.Met388Ile) n.221+1255C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559479del | CA2695208316 | CFTR,CFTR-AS1 | c.1408del (p.Val470Ter) c.*1122del (n.*1122del) c.1225del (p.Val409Ter) c.1403del (p.Gly468ValfsTer?) c.*1232del (n.*1232del) c.982del (p.Val328Ter) c.1318del (p.Val440Ter) c.1498del (p.Val500Ter) c.1165del (p.Val389Ter) n.221+1255del | |
| 7 | g.117559480_117559489del | CA326479 | CFTR,CFTR-AS1 | c.1409_1418del (p.Val470GlufsTer?) c.*1123_*1132del (n.*1123_*1132del) c.1226_1235del (p.Val409GlufsTer?) c.1404_1413del (p.Asp469GlufsTer?) c.*1233_*1242del (n.*1233_*1242del) c.983_992del (p.Val328GlufsTer?) c.1319_1328del (p.Val440GlufsTer?) c.1499_1508del (p.Val500GlufsTer?) c.1166_1175del (p.Val389GlufsTer?) n.221+1246_221+1255del | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559479G>A | CA132747 | CFTR,CFTR-AS1 | c.1408G>A (p.Val470Met) c.*1122G>A (n.*1122G>A) c.1225G>A (p.Val409Met) c.1403G>A (p.Gly468Asp) c.*1232G>A (n.*1232G>A) c.982G>A (p.Val328Met) c.1318G>A (p.Val440Met) c.1498G>A (p.Val500Met) c.1165G>A (p.Val389Met) n.221+1254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |