Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
7 | g.117559479G>C | CA368984319 | CFTR,CFTR-AS1 | c.1408G>C (p.Val470Leu) c.*1122G>C (n.*1122G>C) c.1225G>C (p.Val409Leu) c.1403G>C (p.Gly468Ala) c.*1232G>C (n.*1232G>C) c.982G>C (p.Val328Leu) c.1318G>C (p.Val440Leu) c.1498G>C (p.Val500Leu) c.1165G>C (p.Val389Leu) n.221+1254C>G | |
7 | g.117559479G= | CA215118 | CFTR,CFTR-AS1 | c.1408G= (p.Val470=) c.*1122G= (n.*1122G=) c.1225G= (p.Val409=) c.1403G= (p.Gly468=) c.*1232G= (n.*1232G=) c.982G= (p.Val328=) c.1318G= (p.Val440=) c.1498G= (p.Val500=) c.1165G= (p.Val389=) n.221+1254C= | |
7 | g.117559479G>T | CA368984320 | CFTR,CFTR-AS1 | c.1408G>T (p.Val470Leu) c.*1122G>T (n.*1122G>T) c.1225G>T (p.Val409Leu) c.1403G>T (p.Gly468Val) c.*1232G>T (n.*1232G>T) c.982G>T (p.Val328Leu) c.1318G>T (p.Val440Leu) c.1498G>T (p.Val500Leu) c.1165G>T (p.Val389Leu) n.221+1254C>A | |
7 | g.117559480T>A | CA368984321 | CFTR,CFTR-AS1 | c.1409T>A (p.Val470Glu) c.*1123T>A (n.*1123T>A) c.1226T>A (p.Val409Glu) c.1404T>A (p.Gly468=) c.*1233T>A (n.*1233T>A) c.983T>A (p.Val328Glu) c.1319T>A (p.Val440Glu) c.1499T>A (p.Val500Glu) c.1166T>A (p.Val389Glu) n.221+1253A>T | ClinVar dbSNP |
7 | g.117559480T>C | CA368984322 | CFTR,CFTR-AS1 | c.1409T>C (p.Val470Ala) c.*1123T>C (n.*1123T>C) c.1226T>C (p.Val409Ala) c.1404T>C (p.Gly468=) c.*1233T>C (n.*1233T>C) c.983T>C (p.Val328Ala) c.1319T>C (p.Val440Ala) c.1499T>C (p.Val500Ala) c.1166T>C (p.Val389Ala) n.221+1253A>G | |
7 | g.117559480T>G | CA368984323 | CFTR,CFTR-AS1 | c.1409T>G (p.Val470Gly) c.*1123T>G (n.*1123T>G) c.1226T>G (p.Val409Gly) c.1404T>G (p.Gly468=) c.*1233T>G (n.*1233T>G) c.983T>G (p.Val328Gly) c.1319T>G (p.Val440Gly) c.1499T>G (p.Val500Gly) c.1166T>G (p.Val389Gly) n.221+1253A>C | |
7 | g.117559480T= | CA1737384123 | CFTR,CFTR-AS1 | c.1409T= (p.Val470=) c.*1123T= (n.*1123T=) c.1226T= (p.Val409=) c.1404T= (p.Gly468=) c.*1233T= (n.*1233T=) c.983T= (p.Val328=) c.1319T= (p.Val440=) c.1499T= (p.Val500=) c.1166T= (p.Val389=) n.221+1253A= | |
7 | g.117559481del | CA2695208317 | CFTR,CFTR-AS1 | c.1410del (p.Ile471LeufsTer?) c.*1124del (n.*1124del) c.1227del (p.Ile410LeufsTer?) c.1405del (p.Asp469IlefsTer?) c.*1234del (n.*1234del) c.984del (p.Ile329LeufsTer?) c.1320del (p.Ile441LeufsTer?) c.1500del (p.Ile501LeufsTer?) c.1167del (p.Ile390LeufsTer?) n.221+1252del | |
7 | g.117559481G>A | CA457228748 | CFTR,CFTR-AS1 | c.1410G>A (p.Val470=) c.*1124G>A (n.*1124G>A) c.1227G>A (p.Val409=) c.1405G>A (p.Asp469Asn) c.*1234G>A (n.*1234G>A) c.984G>A (p.Val328=) c.1320G>A (p.Val440=) c.1500G>A (p.Val500=) c.1167G>A (p.Val389=) n.221+1252C>T | COSMIC |
7 | g.117559481G>C | CA457228749 | CFTR,CFTR-AS1 | c.1410G>C (p.Val470=) c.*1124G>C (n.*1124G>C) c.1227G>C (p.Val409=) c.1405G>C (p.Asp469His) c.*1234G>C (n.*1234G>C) c.984G>C (p.Val328=) c.1320G>C (p.Val440=) c.1500G>C (p.Val500=) c.1167G>C (p.Val389=) n.221+1252C>G | |
7 | g.117559481G>T | CA457228750 | CFTR,CFTR-AS1 | c.1410G>T (p.Val470=) c.*1124G>T (n.*1124G>T) c.1227G>T (p.Val409=) c.1405G>T (p.Asp469Tyr) c.*1234G>T (n.*1234G>T) c.984G>T (p.Val328=) c.1320G>T (p.Val440=) c.1500G>T (p.Val500=) c.1167G>T (p.Val389=) n.221+1252C>A | |
7 | g.117559482A= | CA1737384127 | CFTR,CFTR-AS1 | c.1411A= (p.Ile471=) c.*1125A= (n.*1125A=) c.1228A= (p.Ile410=) c.1406A= (p.Asp469=) c.*1235A= (n.*1235A=) c.985A= (p.Ile329=) c.1321A= (p.Ile441=) c.1501A= (p.Ile501=) c.1168A= (p.Ile390=) n.221+1251T= | |
7 | g.117559482A>C | CA368984324 | CFTR,CFTR-AS1 | c.1411A>C (p.Ile471Leu) c.*1125A>C (n.*1125A>C) c.1228A>C (p.Ile410Leu) c.1406A>C (p.Asp469Ala) c.*1235A>C (n.*1235A>C) c.985A>C (p.Ile329Leu) c.1321A>C (p.Ile441Leu) c.1501A>C (p.Ile501Leu) c.1168A>C (p.Ile390Leu) n.221+1251T>G | |
7 | g.117559482A>G | CA368984325 | CFTR,CFTR-AS1 | c.1411A>G (p.Ile471Val) c.*1125A>G (n.*1125A>G) c.1228A>G (p.Ile410Val) c.1406A>G (p.Asp469Gly) c.*1235A>G (n.*1235A>G) c.985A>G (p.Ile329Val) c.1321A>G (p.Ile441Val) c.1501A>G (p.Ile501Val) c.1168A>G (p.Ile390Val) n.221+1251T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559482A>T | CA368984326 | CFTR,CFTR-AS1 | c.1411A>T (p.Ile471Phe) c.*1125A>T (n.*1125A>T) c.1228A>T (p.Ile410Phe) c.1406A>T (p.Asp469Val) c.*1235A>T (n.*1235A>T) c.985A>T (p.Ile329Phe) c.1321A>T (p.Ile441Phe) c.1501A>T (p.Ile501Phe) c.1168A>T (p.Ile390Phe) n.221+1251T>A | ClinVar gnomAD v4 |
7 | g.117559483T>A | CA368984329 | CFTR,CFTR-AS1 | c.1412T>A (p.Ile471Asn) c.*1126T>A (n.*1126T>A) c.1229T>A (p.Ile410Asn) c.1407T>A (p.Asp469Glu) c.*1236T>A (n.*1236T>A) c.986T>A (p.Ile329Asn) c.1322T>A (p.Ile441Asn) c.1502T>A (p.Ile501Asn) c.1169T>A (p.Ile390Asn) n.221+1250A>T | |
7 | g.117559483T>C | CA368984328 | CFTR,CFTR-AS1 | c.1412T>C (p.Ile471Thr) c.*1126T>C (n.*1126T>C) c.1229T>C (p.Ile410Thr) c.1407T>C (p.Asp469=) c.*1236T>C (n.*1236T>C) c.986T>C (p.Ile329Thr) c.1322T>C (p.Ile441Thr) c.1502T>C (p.Ile501Thr) c.1169T>C (p.Ile390Thr) n.221+1250A>G | |
7 | g.117559483T>G | CA368984327 | CFTR,CFTR-AS1 | c.1412T>G (p.Ile471Ser) c.*1126T>G (n.*1126T>G) c.1229T>G (p.Ile410Ser) c.1407T>G (p.Asp469Glu) c.*1236T>G (n.*1236T>G) c.986T>G (p.Ile329Ser) c.1322T>G (p.Ile441Ser) c.1502T>G (p.Ile501Ser) c.1169T>G (p.Ile390Ser) n.221+1250A>C | |
7 | g.117559484T>A | CA457228752 | CFTR,CFTR-AS1 | c.1413T>A (p.Ile471=) c.*1127T>A (n.*1127T>A) c.1230T>A (p.Ile410=) c.1408T>A (p.Tyr470Asn) c.*1237T>A (n.*1237T>A) c.987T>A (p.Ile329=) c.1323T>A (p.Ile441=) c.1503T>A (p.Ile501=) c.1170T>A (p.Ile390=) n.221+1249A>T | |
7 | g.117559484T>C | CA457228751 | CFTR,CFTR-AS1 | c.1413T>C (p.Ile471=) c.*1127T>C (n.*1127T>C) c.1230T>C (p.Ile410=) c.1408T>C (p.Tyr470His) c.*1237T>C (n.*1237T>C) c.987T>C (p.Ile329=) c.1323T>C (p.Ile441=) c.1503T>C (p.Ile501=) c.1170T>C (p.Ile390=) n.221+1249A>G | |
7 | g.117559484T>G | CA368984330 | CFTR,CFTR-AS1 | c.1413T>G (p.Ile471Met) c.*1127T>G (n.*1127T>G) c.1230T>G (p.Ile410Met) c.1408T>G (p.Tyr470Asp) c.*1237T>G (n.*1237T>G) c.987T>G (p.Ile329Met) c.1323T>G (p.Ile441Met) c.1503T>G (p.Ile501Met) c.1170T>G (p.Ile390Met) n.221+1249A>C | COSMIC |
7 | g.117559485A= | CA1737384135 | CFTR,CFTR-AS1 | c.1414A= (p.Met472=) c.*1128A= (n.*1128A=) c.1231A= (p.Met411=) c.1409A= (p.Tyr470=) c.*1238A= (n.*1238A=) c.988A= (p.Met330=) c.1324A= (p.Met442=) c.1504A= (p.Met502=) c.1171A= (p.Met391=) n.221+1248T= | |
7 | g.117559485A>C | CA368984331 | CFTR,CFTR-AS1 | c.1414A>C (p.Met472Leu) c.*1128A>C (n.*1128A>C) c.1231A>C (p.Met411Leu) c.1409A>C (p.Tyr470Ser) c.*1238A>C (n.*1238A>C) c.988A>C (p.Met330Leu) c.1324A>C (p.Met442Leu) c.1504A>C (p.Met502Leu) c.1171A>C (p.Met391Leu) n.221+1248T>G | |
7 | g.117559485A>G | CA368984332 | CFTR,CFTR-AS1 | c.1414A>G (p.Met472Val) c.*1128A>G (n.*1128A>G) c.1231A>G (p.Met411Val) c.1409A>G (p.Tyr470Cys) c.*1238A>G (n.*1238A>G) c.988A>G (p.Met330Val) c.1324A>G (p.Met442Val) c.1504A>G (p.Met502Val) c.1171A>G (p.Met391Val) n.221+1248T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559485A>T | CA368984333 | CFTR,CFTR-AS1 | c.1414A>T (p.Met472Leu) c.*1128A>T (n.*1128A>T) c.1231A>T (p.Met411Leu) c.1409A>T (p.Tyr470Phe) c.*1238A>T (n.*1238A>T) c.988A>T (p.Met330Leu) c.1324A>T (p.Met442Leu) c.1504A>T (p.Met502Leu) c.1171A>T (p.Met391Leu) n.221+1248T>A | |
7 | g.117559485dup | CA913111907 | CFTR,CFTR-AS1 | c.1414dup (p.Met472AsnfsTer10) c.*1128dup (n.*1128dup) c.1231dup (p.Met411AsnfsTer10) c.1409dup (p.Tyr470Ter) c.*1238dup (n.*1238dup) c.988dup (p.Met330AsnfsTer10) c.1324dup (p.Met442AsnfsTer10) c.1504dup (p.Met502AsnfsTer10) c.1171dup (p.Met391AsnfsTer10) n.221+1248dup | |
7 | g.117559486T>A | CA368984334 | CFTR,CFTR-AS1 | c.1415T>A (p.Met472Lys) c.*1129T>A (n.*1129T>A) c.1232T>A (p.Met411Lys) c.1410T>A (p.Tyr470Ter) c.*1239T>A (n.*1239T>A) c.989T>A (p.Met330Lys) c.1325T>A (p.Met442Lys) c.1505T>A (p.Met502Lys) c.1172T>A (p.Met391Lys) n.221+1247A>T | |
7 | g.117559486T>C | CA368984335 | CFTR,CFTR-AS1 | c.1415T>C (p.Met472Thr) c.*1129T>C (n.*1129T>C) c.1232T>C (p.Met411Thr) c.1410T>C (p.Tyr470=) c.*1239T>C (n.*1239T>C) c.989T>C (p.Met330Thr) c.1325T>C (p.Met442Thr) c.1505T>C (p.Met502Thr) c.1172T>C (p.Met391Thr) n.221+1247A>G | |
7 | g.117559486T>G | CA368984336 | CFTR,CFTR-AS1 | c.1415T>G (p.Met472Arg) c.*1129T>G (n.*1129T>G) c.1232T>G (p.Met411Arg) c.1410T>G (p.Tyr470Ter) c.*1239T>G (n.*1239T>G) c.989T>G (p.Met330Arg) c.1325T>G (p.Met442Arg) c.1505T>G (p.Met502Arg) c.1172T>G (p.Met391Arg) n.221+1247A>C | |
7 | g.117559486dup | CA658821280 | CFTR,CFTR-AS1 | c.1415dup (p.Met472IlefsTer10) c.*1129dup (n.*1129dup) c.1232dup (p.Met411IlefsTer10) c.1410dup (p.Gly471TrpfsTer?) c.*1239dup (n.*1239dup) c.989dup (p.Met330IlefsTer10) c.1325dup (p.Met442IlefsTer10) c.1505dup (p.Met502IlefsTer10) c.1172dup (p.Met391IlefsTer10) n.221+1247dup | ClinVar dbSNP gnomAD v4 |
7 | g.117559486_117559487delinsTG | CA1737384147 | CFTR,CFTR-AS1 | c.1415_1416delinsTG (p.Met472=) c.*1129_*1130delinsTG (n.*1129_*1130delinsTG) c.1232_1233delinsTG (p.Met411=) c.1410_1411delinsTG (p.Tyr470=) c.*1239_*1240delinsTG (n.*1239_*1240delinsTG) c.989_990delinsTG (p.Met330=) c.1325_1326delinsTG (p.Met442=) c.1505_1506delinsTG (p.Met502=) c.1172_1173delinsTG (p.Met391=) n.221+1246_221+1247delinsCA | |
7 | g.117559487G>A | CA368984337 | CFTR,CFTR-AS1 | c.1416G>A (p.Met472Ile) c.*1130G>A (n.*1130G>A) c.1233G>A (p.Met411Ile) c.1411G>A (p.Gly471Arg) c.*1240G>A (n.*1240G>A) c.990G>A (p.Met330Ile) c.1326G>A (p.Met442Ile) c.1506G>A (p.Met502Ile) c.1173G>A (p.Met391Ile) n.221+1246C>T |