Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117559543_117559553del | CA2580076300 | CFTR,CFTR-AS1 | c.1472_1482del (p.Cys491PhefsTer9) c.*1186_*1196del (n.*1186_*1196del) c.1289_1299del (p.Cys430PhefsTer9) c.*30_*40del (n.*30_*40del) c.*1296_*1306del (n.*1296_*1306del) c.1046_1056del (p.Cys349PhefsTer9) c.1382_1392del (p.Cys461PhefsTer9) c.1562_1572del (p.Cys521PhefsTer9) c.1229_1239del (p.Cys410PhefsTer9) n.221+1181_221+1191del | ClinVar |
7 | g.117559550_117559552delinsGTT | CA1737384442 | CFTR,CFTR-AS1 | c.1479_1481delinsGTT (p.Gln493=) c.*1193_*1195delinsGTT (n.*1193_*1195delinsGTT) c.1296_1298delinsGTT (p.Gln432=) c.*37_*39delinsGTT (n.*37_*39delinsGTT) c.*1303_*1305delinsGTT (n.*1303_*1305delinsGTT) c.1053_1055delinsGTT (p.Gln351=) c.1389_1391delinsGTT (p.Gln463=) c.1569_1571delinsGTT (p.Gln523=) c.1236_1238delinsGTT (p.Gln412=) n.221+1181_221+1183delinsAAC | |
7 | g.117559550_117559565delinsCCTT | CA2695208321 | CFTR,CFTR-AS1 | c.1479_1494delinsCCTT (p.Gln493_Met498delinsHisLeu) c.*1193_*1208delinsCCTT (n.*1193_*1208delinsCCTT) c.1296_1311delinsCCTT (p.Gln432_Met437delinsHisLeu) c.*37_*52delinsCCTT (n.*37_*52delinsCCTT) c.*1303_*1318delinsCCTT (n.*1303_*1318delinsCCTT) c.1053_1068delinsCCTT (p.Gln351_Met356delinsHisLeu) c.1389_1404delinsCCTT (p.Gln463_Met468delinsHisLeu) c.1569_1584delinsCCTT (p.Gln523_Met528delinsHisLeu) c.1236_1251delinsCCTT (p.Gln412_Met417delinsHisLeu) n.221+1168_221+1183delinsAAGG | |
7 | g.117559554del | CA2580076302 | CFTR,CFTR-AS1 | c.1483del (p.Ser495ProfsTer?) c.*1197del (n.*1197del) c.1300del (p.Ser434ProfsTer?) c.*41del (n.*41del) c.*1307del (n.*1307del) c.1057del (p.Ser353ProfsTer?) c.1393del (p.Ser465ProfsTer?) c.1573del (p.Ser525ProfsTer?) c.1240del (p.Ser414ProfsTer?) n.221+1182del | ClinVar |
7 | g.117559553_117559554del | CA326500 | CFTR,CFTR-AS1 | c.1482_1483del (p.Ser495LeufsTer8) c.*1196_*1197del (n.*1196_*1197del) c.1299_1300del (p.Ser434LeufsTer8) c.*40_*41del (n.*40_*41del) c.*1306_*1307del (n.*1306_*1307del) c.1056_1057del (p.Ser353LeufsTer8) c.1392_1393del (p.Ser465LeufsTer8) c.1572_1573del (p.Ser525LeufsTer8) c.1239_1240del (p.Ser414LeufsTer8) n.221+1181_221+1182del | dbSNP |
7 | g.117559552T>A | CA368984552 | CFTR,CFTR-AS1 | c.1481T>A (p.Phe494Tyr) c.*1195T>A (n.*1195T>A) c.1298T>A (p.Phe433Tyr) c.*39T>A (n.*39T>A) c.*1305T>A (n.*1305T>A) c.1055T>A (p.Phe352Tyr) c.1391T>A (p.Phe464Tyr) c.1571T>A (p.Phe524Tyr) c.1238T>A (p.Phe413Tyr) n.221+1181A>T | |
7 | g.117559552T>C | CA368984554 | CFTR,CFTR-AS1 | c.1481T>C (p.Phe494Ser) c.*1195T>C (n.*1195T>C) c.1298T>C (p.Phe433Ser) c.*39T>C (n.*39T>C) c.*1305T>C (n.*1305T>C) c.1055T>C (p.Phe352Ser) c.1391T>C (p.Phe464Ser) c.1571T>C (p.Phe524Ser) c.1238T>C (p.Phe413Ser) n.221+1181A>G | |
7 | g.117559552T>G | CA368984555 | CFTR,CFTR-AS1 | c.1481T>G (p.Phe494Cys) c.*1195T>G (n.*1195T>G) c.1298T>G (p.Phe433Cys) c.*39T>G (n.*39T>G) c.*1305T>G (n.*1305T>G) c.1055T>G (p.Phe352Cys) c.1391T>G (p.Phe464Cys) c.1571T>G (p.Phe524Cys) c.1238T>G (p.Phe413Cys) n.221+1181A>C | |
7 | g.117559553T>A | CA368984557 | CFTR,CFTR-AS1 | c.1482T>A (p.Phe494Leu) c.*1196T>A (n.*1196T>A) c.1299T>A (p.Phe433Leu) c.*40T>A (n.*40T>A) c.*1306T>A (n.*1306T>A) c.1056T>A (p.Phe352Leu) c.1392T>A (p.Phe464Leu) c.1572T>A (p.Phe524Leu) c.1239T>A (p.Phe413Leu) n.221+1180A>T | |
7 | g.117559553T>C | CA457228814 | CFTR,CFTR-AS1 | c.1482T>C (p.Phe494=) c.*1196T>C (n.*1196T>C) c.1299T>C (p.Phe433=) c.*40T>C (n.*40T>C) c.*1306T>C (n.*1306T>C) c.1056T>C (p.Phe352=) c.1392T>C (p.Phe464=) c.1572T>C (p.Phe524=) c.1239T>C (p.Phe413=) n.221+1180A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559553T>G | CA368984558 | CFTR,CFTR-AS1 | c.1482T>G (p.Phe494Leu) c.*1196T>G (n.*1196T>G) c.1299T>G (p.Phe433Leu) c.*40T>G (n.*40T>G) c.*1306T>G (n.*1306T>G) c.1056T>G (p.Phe352Leu) c.1392T>G (p.Phe464Leu) c.1572T>G (p.Phe524Leu) c.1239T>G (p.Phe413Leu) n.221+1180A>C | |
7 | g.117559553T= | CA1737384450 | CFTR,CFTR-AS1 | c.1482T= (p.Phe494=) c.*1196T= (n.*1196T=) c.1299T= (p.Phe433=) c.*40T= (n.*40T=) c.*1306T= (n.*1306T=) c.1056T= (p.Phe352=) c.1392T= (p.Phe464=) c.1572T= (p.Phe524=) c.1239T= (p.Phe413=) n.221+1180A= | |
7 | g.117559554T>A | CA368984560 | CFTR,CFTR-AS1 | c.1483T>A (p.Ser495Thr) c.*1197T>A (n.*1197T>A) c.1300T>A (p.Ser434Thr) c.*41T>A (n.*41T>A) c.*1307T>A (n.*1307T>A) c.1057T>A (p.Ser353Thr) c.1393T>A (p.Ser465Thr) c.1573T>A (p.Ser525Thr) c.1240T>A (p.Ser414Thr) n.221+1179A>T | |
7 | g.117559554T>C | CA368984562 | CFTR,CFTR-AS1 | c.1483T>C (p.Ser495Pro) c.*1197T>C (n.*1197T>C) c.1300T>C (p.Ser434Pro) c.*41T>C (n.*41T>C) c.*1307T>C (n.*1307T>C) c.1057T>C (p.Ser353Pro) c.1393T>C (p.Ser465Pro) c.1573T>C (p.Ser525Pro) c.1240T>C (p.Ser414Pro) n.221+1179A>G | |
7 | g.117559554T>G | CA368984563 | CFTR,CFTR-AS1 | c.1483T>G (p.Ser495Ala) c.*1197T>G (n.*1197T>G) c.1300T>G (p.Ser434Ala) c.*41T>G (n.*41T>G) c.*1307T>G (n.*1307T>G) c.1057T>G (p.Ser353Ala) c.1393T>G (p.Ser465Ala) c.1573T>G (p.Ser525Ala) c.1240T>G (p.Ser414Ala) n.221+1179A>C | dbSNP |
7 | g.117559554T= | CA1737384452 | CFTR,CFTR-AS1 | c.1483T= (p.Ser495=) c.*1197T= (n.*1197T=) c.1300T= (p.Ser434=) c.*41T= (n.*41T=) c.*1307T= (n.*1307T=) c.1057T= (p.Ser353=) c.1393T= (p.Ser465=) c.1573T= (p.Ser525=) c.1240T= (p.Ser414=) n.221+1179A= | |
7 | g.117559555C>A | CA368984566 | CFTR,CFTR-AS1 | c.1484C>A (p.Ser495Tyr) c.*1198C>A (n.*1198C>A) c.1301C>A (p.Ser434Tyr) c.*42C>A (n.*42C>A) c.*1308C>A (n.*1308C>A) c.1058C>A (p.Ser353Tyr) c.1394C>A (p.Ser465Tyr) c.1574C>A (p.Ser525Tyr) c.1241C>A (p.Ser414Tyr) n.221+1178G>T | ClinVar |
7 | g.117559555C= | CA1737384457 | CFTR,CFTR-AS1 | c.1484C= (p.Ser495=) c.*1198C= (n.*1198C=) c.1301C= (p.Ser434=) c.*42C= (n.*42C=) c.*1308C= (n.*1308C=) c.1058C= (p.Ser353=) c.1394C= (p.Ser465=) c.1574C= (p.Ser525=) c.1241C= (p.Ser414=) n.221+1178G= | |
7 | g.117559555C>G | CA368984567 | CFTR,CFTR-AS1 | c.1484C>G (p.Ser495Cys) c.*1198C>G (n.*1198C>G) c.1301C>G (p.Ser434Cys) c.*42C>G (n.*42C>G) c.*1308C>G (n.*1308C>G) c.1058C>G (p.Ser353Cys) c.1394C>G (p.Ser465Cys) c.1574C>G (p.Ser525Cys) c.1241C>G (p.Ser414Cys) n.221+1178G>C | ClinVar |
7 | g.117559555C>T | CA164967725 | CFTR,CFTR-AS1 | c.1484C>T (p.Ser495Phe) c.*1198C>T (n.*1198C>T) c.1301C>T (p.Ser434Phe) c.*42C>T (n.*42C>T) c.*1308C>T (n.*1308C>T) c.1058C>T (p.Ser353Phe) c.1394C>T (p.Ser465Phe) c.1574C>T (p.Ser525Phe) c.1241C>T (p.Ser414Phe) n.221+1178G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117559556C>A | CA457228819 | CFTR,CFTR-AS1 | c.1485C>A (p.Ser495=) c.*1199C>A (n.*1199C>A) c.1302C>A (p.Ser434=) c.*43C>A (n.*43C>A) c.*1309C>A (n.*1309C>A) c.1059C>A (p.Ser353=) c.1395C>A (p.Ser465=) c.1575C>A (p.Ser525=) c.1242C>A (p.Ser414=) n.221+1177G>T | |
7 | g.117559556C>G | CA457228818 | CFTR,CFTR-AS1 | c.1485C>G (p.Ser495=) c.*1199C>G (n.*1199C>G) c.1302C>G (p.Ser434=) c.*43C>G (n.*43C>G) c.*1309C>G (n.*1309C>G) c.1059C>G (p.Ser353=) c.1395C>G (p.Ser465=) c.1575C>G (p.Ser525=) c.1242C>G (p.Ser414=) n.221+1177G>C | ClinVar |
7 | g.117559556C>T | CA457228817 | CFTR,CFTR-AS1 | c.1485C>T (p.Ser495=) c.*1199C>T (n.*1199C>T) c.1302C>T (p.Ser434=) c.*43C>T (n.*43C>T) c.*1309C>T (n.*1309C>T) c.1059C>T (p.Ser353=) c.1395C>T (p.Ser465=) c.1575C>T (p.Ser525=) c.1242C>T (p.Ser414=) n.221+1177G>A | |
7 | g.117559556_117559557delinsCT | CA1737384465 | CFTR,CFTR-AS1 | c.1485_1486delinsCT (p.Ser495=) c.*1199_*1200delinsCT (n.*1199_*1200delinsCT) c.1302_1303delinsCT (p.Ser434=) c.*43_*44delinsCT (n.*43_*44delinsCT) c.*1309_*1310delinsCT (n.*1309_*1310delinsCT) c.1059_1060delinsCT (p.Ser353=) c.1395_1396delinsCT (p.Ser465=) c.1575_1576delinsCT (p.Ser525=) c.1242_1243delinsCT (p.Ser414=) n.221+1176_221+1177delinsAG | |
7 | g.117559557del | CA915945483 | CFTR,CFTR-AS1 | c.1486del (p.Trp496GlyfsTer?) c.*1200del (n.*1200del) c.1303del (p.Trp435GlyfsTer?) c.*44del (n.*44del) c.*1310del (n.*1310del) c.1060del (p.Trp354GlyfsTer?) c.1396del (p.Trp466GlyfsTer?) c.1576del (p.Trp526GlyfsTer?) c.1243del (p.Trp415GlyfsTer?) n.221+1176del | ClinVar dbSNP |
7 | g.117559557T>A | CA368984569 | CFTR,CFTR-AS1 | c.1486T>A (p.Trp496Arg) c.*1200T>A (n.*1200T>A) c.1303T>A (p.Trp435Arg) c.*44T>A (n.*44T>A) c.*1310T>A (n.*1310T>A) c.1060T>A (p.Trp354Arg) c.1396T>A (p.Trp466Arg) c.1576T>A (p.Trp526Arg) c.1243T>A (p.Trp415Arg) n.221+1176A>T | |
7 | g.117559557T>C | CA368984571 | CFTR,CFTR-AS1 | c.1486T>C (p.Trp496Arg) c.*1200T>C (n.*1200T>C) c.1303T>C (p.Trp435Arg) c.*44T>C (n.*44T>C) c.*1310T>C (n.*1310T>C) c.1060T>C (p.Trp354Arg) c.1396T>C (p.Trp466Arg) c.1576T>C (p.Trp526Arg) c.1243T>C (p.Trp415Arg) n.221+1176A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559557T>G | CA368984573 | CFTR,CFTR-AS1 | c.1486T>G (p.Trp496Gly) c.*1200T>G (n.*1200T>G) c.1303T>G (p.Trp435Gly) c.*44T>G (n.*44T>G) c.*1310T>G (n.*1310T>G) c.1060T>G (p.Trp354Gly) c.1396T>G (p.Trp466Gly) c.1576T>G (p.Trp526Gly) c.1243T>G (p.Trp415Gly) n.221+1176A>C | |
7 | g.117559557T= | CA1737384478 | CFTR,CFTR-AS1 | c.1486T= (p.Trp496=) c.*1200T= (n.*1200T=) c.1303T= (p.Trp435=) c.*44T= (n.*44T=) c.*1310T= (n.*1310T=) c.1060T= (p.Trp354=) c.1396T= (p.Trp466=) c.1576T= (p.Trp526=) c.1243T= (p.Trp415=) n.221+1176A= | |
7 | g.117559558G>A | CA326501 | CFTR,CFTR-AS1 | c.1487G>A (p.Trp496Ter) c.*1201G>A (n.*1201G>A) c.1304G>A (p.Trp435Ter) c.*45G>A (n.*45G>A) c.*1311G>A (n.*1311G>A) c.1061G>A (p.Trp354Ter) c.1397G>A (p.Trp466Ter) c.1577G>A (p.Trp526Ter) c.1244G>A (p.Trp415Ter) n.221+1175C>T | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559558G>C | CA368984574 | CFTR,CFTR-AS1 | c.1487G>C (p.Trp496Ser) c.*1201G>C (n.*1201G>C) c.1304G>C (p.Trp435Ser) c.*45G>C (n.*45G>C) c.*1311G>C (n.*1311G>C) c.1061G>C (p.Trp354Ser) c.1397G>C (p.Trp466Ser) c.1577G>C (p.Trp526Ser) c.1244G>C (p.Trp415Ser) n.221+1175C>G | |
7 | g.117559558G= | CA1737384487 | CFTR,CFTR-AS1 | c.1487G= (p.Trp496=) c.*1201G= (n.*1201G=) c.1304G= (p.Trp435=) c.*45G= (n.*45G=) c.*1311G= (n.*1311G=) c.1061G= (p.Trp354=) c.1397G= (p.Trp466=) c.1577G= (p.Trp526=) c.1244G= (p.Trp415=) n.221+1175C= | |
7 | g.117559558G>T | CA368984576 | CFTR,CFTR-AS1 | c.1487G>T (p.Trp496Leu) c.*1201G>T (n.*1201G>T) c.1304G>T (p.Trp435Leu) c.*45G>T (n.*45G>T) c.*1311G>T (n.*1311G>T) c.1061G>T (p.Trp354Leu) c.1397G>T (p.Trp466Leu) c.1577G>T (p.Trp526Leu) c.1244G>T (p.Trp415Leu) n.221+1175C>A | |
7 | g.117559559G>A | CA164967727 | CFTR,CFTR-AS1 | c.1488G>A (p.Trp496Ter) c.*1202G>A (n.*1202G>A) c.1305G>A (p.Trp435Ter) c.*46G>A (n.*46G>A) c.*1312G>A (n.*1312G>A) c.1062G>A (p.Trp354Ter) c.1398G>A (p.Trp466Ter) c.1578G>A (p.Trp526Ter) c.1245G>A (p.Trp415Ter) n.221+1174C>T | ClinVar dbSNP |
7 | g.117559559G>C | CA164967729 | CFTR,CFTR-AS1 | c.1488G>C (p.Trp496Cys) c.*1202G>C (n.*1202G>C) c.1305G>C (p.Trp435Cys) c.*46G>C (n.*46G>C) c.*1312G>C (n.*1312G>C) c.1062G>C (p.Trp354Cys) c.1398G>C (p.Trp466Cys) c.1578G>C (p.Trp526Cys) c.1245G>C (p.Trp415Cys) n.221+1174C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559559G= | CA1737384490 | CFTR,CFTR-AS1 | c.1488G= (p.Trp496=) c.*1202G= (n.*1202G=) c.1305G= (p.Trp435=) c.*46G= (n.*46G=) c.*1312G= (n.*1312G=) c.1062G= (p.Trp354=) c.1398G= (p.Trp466=) c.1578G= (p.Trp526=) c.1245G= (p.Trp415=) n.221+1174C= | |
7 | g.117559559G>T | CA368984578 | CFTR,CFTR-AS1 | c.1488G>T (p.Trp496Cys) c.*1202G>T (n.*1202G>T) c.1305G>T (p.Trp435Cys) c.*46G>T (n.*46G>T) c.*1312G>T (n.*1312G>T) c.1062G>T (p.Trp354Cys) c.1398G>T (p.Trp466Cys) c.1578G>T (p.Trp526Cys) c.1245G>T (p.Trp415Cys) n.221+1174C>A | gnomAD v4 |
7 | g.117559560A>C | CA368984580 | CFTR,CFTR-AS1 | c.1489A>C (p.Ile497Leu) c.*1203A>C (n.*1203A>C) c.1306A>C (p.Ile436Leu) c.*47A>C (n.*47A>C) c.*1313A>C (n.*1313A>C) c.1063A>C (p.Ile355Leu) c.1399A>C (p.Ile467Leu) c.1579A>C (p.Ile527Leu) c.1246A>C (p.Ile416Leu) n.221+1173T>G | |
7 | g.117559560A>G | CA368984581 | CFTR,CFTR-AS1 | c.1489A>G (p.Ile497Val) c.*1203A>G (n.*1203A>G) c.1306A>G (p.Ile436Val) c.*47A>G (n.*47A>G) c.*1313A>G (n.*1313A>G) c.1063A>G (p.Ile355Val) c.1399A>G (p.Ile467Val) c.1579A>G (p.Ile527Val) c.1246A>G (p.Ile416Val) n.221+1173T>C | gnomAD v4 |
7 | g.117559560A>T | CA368984582 | CFTR,CFTR-AS1 | c.1489A>T (p.Ile497Phe) c.*1203A>T (n.*1203A>T) c.1306A>T (p.Ile436Phe) c.*47A>T (n.*47A>T) c.*1313A>T (n.*1313A>T) c.1063A>T (p.Ile355Phe) c.1399A>T (p.Ile467Phe) c.1579A>T (p.Ile527Phe) c.1246A>T (p.Ile416Phe) n.221+1173T>A | gnomAD v4 |
7 | g.117559564_117559578del | CA2573052806 | CFTR,CFTR-AS1 | c.1493_1507del (p.Met498_Ile502del) c.*1207_*1221del (n.*1207_*1221del) c.1310_1324del (p.Met437_Ile441del) c.*51_*65del (n.*51_*65del) c.*1317_*1331del (n.*1317_*1331del) c.1067_1081del (p.Met356_Ile360del) c.1403_1417del (p.Met468_Ile472del) c.1583_1597del (p.Met528_Ile532del) c.1250_1264del (p.Met417_Ile421del) n.221+1159_221+1173del | ClinVar dbSNP |
7 | g.117559561T>A | CA368984584 | CFTR,CFTR-AS1 | c.1490T>A (p.Ile497Asn) c.*1204T>A (n.*1204T>A) c.1307T>A (p.Ile436Asn) c.*48T>A (n.*48T>A) c.*1314T>A (n.*1314T>A) c.1064T>A (p.Ile355Asn) c.1400T>A (p.Ile467Asn) c.1580T>A (p.Ile527Asn) c.1247T>A (p.Ile416Asn) n.221+1172A>T | |
7 | g.117559561T>C | CA368984586 | CFTR,CFTR-AS1 | c.1490T>C (p.Ile497Thr) c.*1204T>C (n.*1204T>C) c.1307T>C (p.Ile436Thr) c.*48T>C (n.*48T>C) c.*1314T>C (n.*1314T>C) c.1064T>C (p.Ile355Thr) c.1400T>C (p.Ile467Thr) c.1580T>C (p.Ile527Thr) c.1247T>C (p.Ile416Thr) n.221+1172A>G | |
7 | g.117559561T>G | CA368984588 | CFTR,CFTR-AS1 | c.1490T>G (p.Ile497Ser) c.*1204T>G (n.*1204T>G) c.1307T>G (p.Ile436Ser) c.*48T>G (n.*48T>G) c.*1314T>G (n.*1314T>G) c.1064T>G (p.Ile355Ser) c.1400T>G (p.Ile467Ser) c.1580T>G (p.Ile527Ser) c.1247T>G (p.Ile416Ser) n.221+1172A>C | ClinVar dbSNP |
7 | g.117559561T= | CA1737384498 | CFTR,CFTR-AS1 | c.1490T= (p.Ile497=) c.*1204T= (n.*1204T=) c.1307T= (p.Ile436=) c.*48T= (n.*48T=) c.*1314T= (n.*1314T=) c.1064T= (p.Ile355=) c.1400T= (p.Ile467=) c.1580T= (p.Ile527=) c.1247T= (p.Ile416=) n.221+1172A= | |
7 | g.117559562T>A | CA457228824 | CFTR,CFTR-AS1 | c.1491T>A (p.Ile497=) c.*1205T>A (n.*1205T>A) c.1308T>A (p.Ile436=) c.*49T>A (n.*49T>A) c.*1315T>A (n.*1315T>A) c.1065T>A (p.Ile355=) c.1401T>A (p.Ile467=) c.1581T>A (p.Ile527=) c.1248T>A (p.Ile416=) n.221+1171A>T | |
7 | g.117559562T>C | CA457228825 | CFTR,CFTR-AS1 | c.1491T>C (p.Ile497=) c.*1205T>C (n.*1205T>C) c.1308T>C (p.Ile436=) c.*49T>C (n.*49T>C) c.*1315T>C (n.*1315T>C) c.1065T>C (p.Ile355=) c.1401T>C (p.Ile467=) c.1581T>C (p.Ile527=) c.1248T>C (p.Ile416=) n.221+1171A>G | |
7 | g.117559562T>G | CA368984590 | CFTR,CFTR-AS1 | c.1491T>G (p.Ile497Met) c.*1205T>G (n.*1205T>G) c.1308T>G (p.Ile436Met) c.*49T>G (n.*49T>G) c.*1315T>G (n.*1315T>G) c.1065T>G (p.Ile355Met) c.1401T>G (p.Ile467Met) c.1581T>G (p.Ile527Met) c.1248T>G (p.Ile416Met) n.221+1171A>C | |
7 | g.117559563A= | CA1737384505 | CFTR,CFTR-AS1 | c.1492A= (p.Met498=) c.*1206A= (n.*1206A=) c.1309A= (p.Met437=) c.*50A= (n.*50A=) c.*1316A= (n.*1316A=) c.1066A= (p.Met356=) c.1402A= (p.Met468=) c.1582A= (p.Met528=) c.1249A= (p.Met417=) n.221+1170T= | |
7 | g.117559563A>C | CA368984592 | CFTR,CFTR-AS1 | c.1492A>C (p.Met498Leu) c.*1206A>C (n.*1206A>C) c.1309A>C (p.Met437Leu) c.*50A>C (n.*50A>C) c.*1316A>C (n.*1316A>C) c.1066A>C (p.Met356Leu) c.1402A>C (p.Met468Leu) c.1582A>C (p.Met528Leu) c.1249A>C (p.Met417Leu) n.221+1170T>G |