| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559583_117559594del | CA2580611908 | CFTR,CFTR-AS1 | c.1512_1523del (p.Glu504_Phe508delinsAsp) c.*1226_*1237del (n.*1226_*1237del) c.1329_1340del (p.Glu443_Phe447delinsAsp) c.*70_*81del (n.*70_*81del) c.*1336_*1347del (n.*1336_*1347del) c.1086_1097del (p.Glu362_Phe366delinsAsp) c.1422_1433del (p.Glu474_Phe478delinsAsp) c.1602_1613del (p.Glu534_Phe538delinsAsp) c.1269_1280del (p.Glu423_Phe427delinsAsp) n.221+1139_221+1150del | |
| 7 | g.117559587_117559591dup | CA2695208325 | CFTR,CFTR-AS1 | c.1516_1520dup (p.Phe508SerfsTer21) c.*1230_*1234dup (n.*1230_*1234dup) c.1333_1337dup (p.Phe447SerfsTer21) c.*74_*78dup (n.*74_*78dup) c.*1340_*1344dup (n.*1340_*1344dup) c.1090_1094dup (p.Phe366SerfsTer21) c.1426_1430dup (p.Phe478SerfsTer21) c.1606_1610dup (p.Phe538SerfsTer21) c.1273_1277dup (p.Phe427SerfsTer21) n.221+1144_221+1148dup | |
| 7 | g.117559586_117559589delinsTATC | CA1737384592 | CFTR,CFTR-AS1 | c.1515_1518delinsTATC (p.Asn505=) c.*1229_*1232delinsTATC (n.*1229_*1232delinsTATC) c.1332_1335delinsTATC (p.Asn444=) c.*73_*76delinsTATC (n.*73_*76delinsTATC) c.*1339_*1342delinsTATC (n.*1339_*1342delinsTATC) c.1089_1092delinsTATC (p.Asn363=) c.1425_1428delinsTATC (p.Asn475=) c.1605_1608delinsTATC (p.Asn535=) c.1272_1275delinsTATC (p.Asn424=) n.221+1144_221+1147delinsGATA | |
| 7 | g.117559590_117559592del | CA340628 | CFTR,CFTR-AS1 | c.1519_1521del (p.Ile507del) c.*1233_*1235del (n.*1233_*1235del) c.1336_1338del (p.Ile446del) c.*77_*79del (n.*77_*79del) c.*1343_*1345del (n.*1343_*1345del) c.1093_1095del (p.Ile365del) c.1429_1431del (p.Ile477del) c.1609_1611del (p.Ile537del) c.1276_1278del (p.Ile426del) n.221+1144_221+1146del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559587_117559594delinsATCATCTT | CA1737384602 | CFTR,CFTR-AS1 | c.1516_1523delinsATCATCTT (p.Ile506=) c.*1230_*1237delinsATCATCTT (n.*1230_*1237delinsATCATCTT) c.1333_1340delinsATCATCTT (p.Ile445=) c.*74_*81delinsATCATCTT (n.*74_*81delinsATCATCTT) c.*1340_*1347delinsATCATCTT (n.*1340_*1347delinsATCATCTT) c.1090_1097delinsATCATCTT (p.Ile364=) c.1426_1433delinsATCATCTT (p.Ile476=) c.1606_1613delinsATCATCTT (p.Ile536=) c.1273_1280delinsATCATCTT (p.Ile425=) n.221+1139_221+1146delinsAAGATGAT | |
| 7 | g.117559588_117559592delinsTCATC | CA1737384635 | CFTR,CFTR-AS1 | c.1517_1521delinsTCATC (p.Ile506=) c.*1231_*1235delinsTCATC (n.*1231_*1235delinsTCATC) c.1334_1338delinsTCATC (p.Ile445=) c.*75_*79delinsTCATC (n.*75_*79delinsTCATC) c.*1341_*1345delinsTCATC (n.*1341_*1345delinsTCATC) c.1091_1095delinsTCATC (p.Ile364=) c.1427_1431delinsTCATC (p.Ile476=) c.1607_1611delinsTCATC (p.Ile536=) c.1274_1278delinsTCATC (p.Ile425=) n.221+1141_221+1145delinsGATGA | |
| 7 | g.117559588_117559595delinsTCATCTTT | CA1737384633 | CFTR,CFTR-AS1 | c.1517_1524delinsTCATCTTT (p.Ile506=) c.*1231_*1238delinsTCATCTTT (n.*1231_*1238delinsTCATCTTT) c.1334_1341delinsTCATCTTT (p.Ile445=) c.*75_*82delinsTCATCTTT (n.*75_*82delinsTCATCTTT) c.*1341_*1348delinsTCATCTTT (n.*1341_*1348delinsTCATCTTT) c.1091_1098delinsTCATCTTT (p.Ile364=) c.1427_1434delinsTCATCTTT (p.Ile476=) c.1607_1614delinsTCATCTTT (p.Ile536=) c.1274_1281delinsTCATCTTT (p.Ile425=) n.221+1138_221+1145delinsAAAGATGA | |
| 7 | g.117559589_117559595del | CA918111823 | CFTR,CFTR-AS1 | c.1518_1524del (p.Ile506MetfsTer19) c.*1232_*1238del (n.*1232_*1238del) c.1335_1341del (p.Ile445MetfsTer19) c.*76_*82del (n.*76_*82del) c.*1342_*1348del (n.*1342_*1348del) c.1092_1098del (p.Ile364MetfsTer19) c.1428_1434del (p.Ile476MetfsTer19) c.1608_1614del (p.Ile536MetfsTer19) c.1275_1281del (p.Ile425MetfsTer19) n.221+1139_221+1145del | dbSNP |
| 7 | g.117559589C>A | CA4451014 | CFTR,CFTR-AS1 | c.1518C>A (p.Ile506=) c.*1232C>A (n.*1232C>A) c.1335C>A (p.Ile445=) c.*76C>A (n.*76C>A) c.*1342C>A (n.*1342C>A) c.1092C>A (p.Ile364=) c.1428C>A (p.Ile476=) c.1608C>A (p.Ile536=) c.1275C>A (p.Ile425=) n.221+1144G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559589C= | CA1737384649 | CFTR,CFTR-AS1 | c.1518C= (p.Ile506=) c.*1232C= (n.*1232C=) c.1335C= (p.Ile445=) c.*76C= (n.*76C=) c.*1342C= (n.*1342C=) c.1092C= (p.Ile364=) c.1428C= (p.Ile476=) c.1608C= (p.Ile536=) c.1275C= (p.Ile425=) n.221+1144G= | |
| 7 | g.117559589C>G | CA326525 | CFTR,CFTR-AS1 | c.1518C>G (p.Ile506Met) c.*1232C>G (n.*1232C>G) c.1335C>G (p.Ile445Met) c.*76C>G (n.*76C>G) c.*1342C>G (n.*1342C>G) c.1092C>G (p.Ile364Met) c.1428C>G (p.Ile476Met) c.1608C>G (p.Ile536Met) c.1275C>G (p.Ile425Met) n.221+1144G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559589C>T | CA457228860 | CFTR,CFTR-AS1 | c.1518C>T (p.Ile506=) c.*1232C>T (n.*1232C>T) c.1335C>T (p.Ile445=) c.*76C>T (n.*76C>T) c.*1342C>T (n.*1342C>T) c.1092C>T (p.Ile364=) c.1428C>T (p.Ile476=) c.1608C>T (p.Ile536=) c.1275C>T (p.Ile425=) n.221+1144G>A | COSMIC |
| 7 | g.117559589_117559592del | CA918111825 | CFTR,CFTR-AS1 | c.1518_1521del (p.Ile507LeufsTer19) c.*1232_*1235del (n.*1232_*1235del) c.1335_1338del (p.Ile446LeufsTer19) c.*76_*79del (n.*76_*79del) c.*1342_*1345del (n.*1342_*1345del) c.1092_1095del (p.Ile365LeufsTer19) c.1428_1431del (p.Ile477LeufsTer19) c.1608_1611del (p.Ile537LeufsTer19) c.1275_1278del (p.Ile426LeufsTer19) n.221+1141_221+1144del | dbSNP |
| 7 | g.117559589_117559595delinsA | CA164967764 | CFTR,CFTR-AS1 | c.1518_1524delinsA (p.Ile507_Phe508del) c.*1232_*1238delinsA (n.*1232_*1238delinsA) c.1335_1341delinsA (p.Ile446_Phe447del) c.*76_*82delinsA (n.*76_*82delinsA) c.*1342_*1348delinsA (n.*1342_*1348delinsA) c.1092_1098delinsA (p.Ile365_Phe366del) c.1428_1434delinsA (p.Ile477_Phe478del) c.1608_1614delinsA (p.Ile537_Phe538del) c.1275_1281delinsA (p.Ile426_Phe427del) n.221+1138_221+1144delinsT | dbSNP |
| 7 | g.117559589_117559595delinsG | CA164967765 | CFTR,CFTR-AS1 | c.1518_1524delinsG (p.Ile506_Phe508delinsMet) c.*1232_*1238delinsG (n.*1232_*1238delinsG) c.1335_1341delinsG (p.Ile445_Phe447delinsMet) c.*76_*82delinsG (n.*76_*82delinsG) c.*1342_*1348delinsG (n.*1342_*1348delinsG) c.1092_1098delinsG (p.Ile364_Phe366delinsMet) c.1428_1434delinsG (p.Ile476_Phe478delinsMet) c.1608_1614delinsG (p.Ile536_Phe538delinsMet) c.1275_1281delinsG (p.Ile425_Phe427delinsMet) n.221+1138_221+1144delinsC | dbSNP |
| 7 | g.117559590A= | CA1737384659 | CFTR,CFTR-AS1 | c.1519A= (p.Ile507=) c.*1233A= (n.*1233A=) c.1336A= (p.Ile446=) c.*77A= (n.*77A=) c.*1343A= (n.*1343A=) c.1093A= (p.Ile365=) c.1429A= (p.Ile477=) c.1609A= (p.Ile537=) c.1276A= (p.Ile426=) n.221+1143T= | |
| 7 | g.117559590A>C | CA368984707 | CFTR,CFTR-AS1 | c.1519A>C (p.Ile507Leu) c.*1233A>C (n.*1233A>C) c.1336A>C (p.Ile446Leu) c.*77A>C (n.*77A>C) c.*1343A>C (n.*1343A>C) c.1093A>C (p.Ile365Leu) c.1429A>C (p.Ile477Leu) c.1609A>C (p.Ile537Leu) c.1276A>C (p.Ile426Leu) n.221+1143T>G | |
| 7 | g.117559590A>G | CA274056 | CFTR,CFTR-AS1 | c.1519A>G (p.Ile507Val) c.*1233A>G (n.*1233A>G) c.1336A>G (p.Ile446Val) c.*77A>G (n.*77A>G) c.*1343A>G (n.*1343A>G) c.1093A>G (p.Ile365Val) c.1429A>G (p.Ile477Val) c.1609A>G (p.Ile537Val) c.1276A>G (p.Ile426Val) n.221+1143T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559590A>T | CA368984708 | CFTR,CFTR-AS1 | c.1519A>T (p.Ile507Phe) c.*1233A>T (n.*1233A>T) c.1336A>T (p.Ile446Phe) c.*77A>T (n.*77A>T) c.*1343A>T (n.*1343A>T) c.1093A>T (p.Ile365Phe) c.1429A>T (p.Ile477Phe) c.1609A>T (p.Ile537Phe) c.1276A>T (p.Ile426Phe) n.221+1143T>A | ClinVar dbSNP |
| 7 | g.117559590_117559593delinsATCT | CA1737384661 | CFTR,CFTR-AS1 | c.1519_1522delinsATCT (p.Ile507=) c.*1233_*1236delinsATCT (n.*1233_*1236delinsATCT) c.1336_1339delinsATCT (p.Ile446=) c.*77_*80delinsATCT (n.*77_*80delinsATCT) c.*1343_*1346delinsATCT (n.*1343_*1346delinsATCT) c.1093_1096delinsATCT (p.Ile365=) c.1429_1432delinsATCT (p.Ile477=) c.1609_1612delinsATCT (p.Ile537=) c.1276_1279delinsATCT (p.Ile426=) n.221+1140_221+1143delinsAGAT | |
| 7 | g.117559591T>A | CA368984709 | CFTR,CFTR-AS1 | c.1520T>A (p.Ile507Asn) c.*1234T>A (n.*1234T>A) c.1337T>A (p.Ile446Asn) c.*78T>A (n.*78T>A) c.*1344T>A (n.*1344T>A) c.1094T>A (p.Ile365Asn) c.1430T>A (p.Ile477Asn) c.1610T>A (p.Ile537Asn) c.1277T>A (p.Ile426Asn) n.221+1142A>T | |
| 7 | g.117559591T>C | CA368984710 | CFTR,CFTR-AS1 | c.1520T>C (p.Ile507Thr) c.*1234T>C (n.*1234T>C) c.1337T>C (p.Ile446Thr) c.*78T>C (n.*78T>C) c.*1344T>C (n.*1344T>C) c.1094T>C (p.Ile365Thr) c.1430T>C (p.Ile477Thr) c.1610T>C (p.Ile537Thr) c.1277T>C (p.Ile426Thr) n.221+1142A>G | |
| 7 | g.117559591T>G | CA368984712 | CFTR,CFTR-AS1 | c.1520T>G (p.Ile507Ser) c.*1234T>G (n.*1234T>G) c.1337T>G (p.Ile446Ser) c.*78T>G (n.*78T>G) c.*1344T>G (n.*1344T>G) c.1094T>G (p.Ile365Ser) c.1430T>G (p.Ile477Ser) c.1610T>G (p.Ile537Ser) c.1277T>G (p.Ile426Ser) n.221+1142A>C | |
| 7 | g.117559592_117559593dup | CA918111826 | CFTR,CFTR-AS1 | c.1521_1522dup (p.Phe508SerfsTer20) c.*1235_*1236dup (n.*1235_*1236dup) c.1338_1339dup (p.Phe447SerfsTer20) c.*79_*80dup (n.*79_*80dup) c.*1345_*1346dup (n.*1345_*1346dup) c.1095_1096dup (p.Phe366SerfsTer20) c.1431_1432dup (p.Phe478SerfsTer20) c.1611_1612dup (p.Phe538SerfsTer20) c.1278_1279dup (p.Phe427SerfsTer20) n.221+1141_221+1142dup | dbSNP |
| 7 | g.117559592_117559594dup | CA1737384675 | CFTR,CFTR-AS1 | c.1521_1523dup (p.Phe508_Gly509insPhe) c.*1235_*1237dup (n.*1235_*1237dup) c.1338_1340dup (p.Phe447_Gly448insPhe) c.*79_*81dup (n.*79_*81dup) c.*1345_*1347dup (n.*1345_*1347dup) c.1095_1097dup (p.Phe366_Gly367insPhe) c.1431_1433dup (p.Phe478_Gly479insPhe) c.1611_1613dup (p.Phe538_Gly539insPhe) c.1278_1280dup (p.Phe427_Gly428insPhe) n.221+1140_221+1142dup | dbSNP |
| 7 | g.117559592_117559594del | CA118639 | CFTR,CFTR-AS1 | c.1521_1523del (p.Phe508del) c.*1235_*1237del (n.*1235_*1237del) c.1338_1340del (p.Phe447del) c.*79_*81del (n.*79_*81del) c.*1345_*1347del (n.*1345_*1347del) c.1095_1097del (p.Phe366del) c.1431_1433del (p.Phe478del) c.1611_1613del (p.Phe538del) c.1278_1280del (p.Phe427del) n.221+1140_221+1142del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.[117559592_117559594del;117610610T>C] | CA913203342 | CFTR | c.[1521_1523del;3080T>C] (p.[Phe508del;Ile1027Thr]) c.[*1235_*1237del;*2794T>C] (n.[*1235_*1237del;*2794T>C]) c.[1338_1340del;2897T>C] (p.[Phe447del;Ile966Thr]) c.[1521_1523del;*1380T>C] ([p.Phe508del;n.*1380T>C]) c.[*1345_*1347del;*2904T>C] (n.[*1345_*1347del;*2904T>C]) c.[1095_1097del;2654T>C] (p.[Phe366del;Ile885Thr]) c.[1338_1340del;1862T>C] (p.[Phe447del;Ile621Thr]) c.[1431_1433del;2990T>C] (p.[Phe478del;Ile997Thr]) c.[1611_1613del;3170T>C] (p.[Phe538del;Ile1057Thr]) c.[1278_1280del;2837T>C] (p.[Phe427del;Ile946Thr]) | ClinVar |
| 7 | g.117559591_117559592insA | CA2695208328 | CFTR,CFTR-AS1 | c.1520_1521insA (p.Phe508LeufsTer6) c.*1234_*1235insA (n.*1234_*1235insA) c.1337_1338insA (p.Phe447LeufsTer6) c.*78_*79insA (n.*78_*79insA) c.*1344_*1345insA (n.*1344_*1345insA) c.1094_1095insA (p.Phe366LeufsTer6) c.1430_1431insA (p.Phe478LeufsTer6) c.1610_1611insA (p.Phe538LeufsTer6) c.1277_1278insA (p.Phe427LeufsTer6) n.221+1141_221+1142insT | |
| 7 | g.117559592C>A | CA457228868 | CFTR,CFTR-AS1 | c.1521C>A (p.Ile507=) c.*1235C>A (n.*1235C>A) c.1338C>A (p.Ile446=) c.*79C>A (n.*79C>A) c.*1345C>A (n.*1345C>A) c.1095C>A (p.Ile365=) c.1431C>A (p.Ile477=) c.1611C>A (p.Ile537=) c.1278C>A (p.Ile426=) n.221+1141G>T | |
| 7 | g.117559592C>G | CA368984720 | CFTR,CFTR-AS1 | c.1521C>G (p.Ile507Met) c.*1235C>G (n.*1235C>G) c.1338C>G (p.Ile446Met) c.*79C>G (n.*79C>G) c.*1345C>G (n.*1345C>G) c.1095C>G (p.Ile365Met) c.1431C>G (p.Ile477Met) c.1611C>G (p.Ile537Met) c.1278C>G (p.Ile426Met) n.221+1141G>C | |
| 7 | g.117559592C>T | CA457228866 | CFTR,CFTR-AS1 | c.1521C>T (p.Ile507=) c.*1235C>T (n.*1235C>T) c.1338C>T (p.Ile446=) c.*79C>T (n.*79C>T) c.*1345C>T (n.*1345C>T) c.1095C>T (p.Ile365=) c.1431C>T (p.Ile477=) c.1611C>T (p.Ile537=) c.1278C>T (p.Ile426=) n.221+1141G>A | |
| 7 | g.117559592_117559593delinsCT | CA1737384680 | CFTR,CFTR-AS1 | c.1521_1522delinsCT (p.Ile507=) c.*1235_*1236delinsCT (n.*1235_*1236delinsCT) c.1338_1339delinsCT (p.Ile446=) c.*79_*80delinsCT (n.*79_*80delinsCT) c.*1345_*1346delinsCT (n.*1345_*1346delinsCT) c.1095_1096delinsCT (p.Ile365=) c.1431_1432delinsCT (p.Ile477=) c.1611_1612delinsCT (p.Ile537=) c.1278_1279delinsCT (p.Ile426=) n.221+1140_221+1141delinsAG | |
| 7 | g.117559592_117559593delinsTC | CA164967774 | CFTR,CFTR-AS1 | c.1521_1522delinsTC (p.Phe508Leu) c.*1235_*1236delinsTC (n.*1235_*1236delinsTC) c.1338_1339delinsTC (p.Phe447Leu) c.*79_*80delinsTC (n.*79_*80delinsTC) c.*1345_*1346delinsTC (n.*1345_*1346delinsTC) c.1095_1096delinsTC (p.Phe366Leu) c.1431_1432delinsTC (p.Phe478Leu) c.1611_1612delinsTC (p.Phe538Leu) c.1278_1279delinsTC (p.Phe427Leu) n.221+1140_221+1141delinsGA | |
| 7 | g.117559592_117559595delinsCTTT | CA1737384679 | CFTR,CFTR-AS1 | c.1521_1524delinsCTTT (p.Ile507=) c.*1235_*1238delinsCTTT (n.*1235_*1238delinsCTTT) c.1338_1341delinsCTTT (p.Ile446=) c.*79_*82delinsCTTT (n.*79_*82delinsCTTT) c.*1345_*1348delinsCTTT (n.*1345_*1348delinsCTTT) c.1095_1098delinsCTTT (p.Ile365=) c.1431_1434delinsCTTT (p.Ile477=) c.1611_1614delinsCTTT (p.Ile537=) c.1278_1281delinsCTTT (p.Ile426=) n.221+1138_221+1141delinsAAAG | |
| 7 | g.117559594_117559605del | CA2695208327 | CFTR,CFTR-AS1 | c.1523_1534del (p.Phe508_Ser511del) c.*1237_*1248del (n.*1237_*1248del) c.1340_1351del (p.Phe447_Ser450del) c.*81_*92del (n.*81_*92del) c.*1347_*1358del (n.*1347_*1358del) c.1097_1108del (p.Phe366_Ser369del) c.1433_1444del (p.Phe478_Ser481del) c.1613_1624del (p.Phe538_Ser541del) c.1280_1291del (p.Phe427_Ser430del) n.221+1130_221+1141del | |
| 7 | g.117559593T>A | CA368984722 | CFTR,CFTR-AS1 | c.1522T>A (p.Phe508Ile) c.*1236T>A (n.*1236T>A) c.1339T>A (p.Phe447Ile) c.*80T>A (n.*80T>A) c.*1346T>A (n.*1346T>A) c.1096T>A (p.Phe366Ile) c.1432T>A (p.Phe478Ile) c.1612T>A (p.Phe538Ile) c.1279T>A (p.Phe427Ile) n.221+1140A>T | dbSNP |
| 7 | g.117559593T>C | CA4451016 | CFTR,CFTR-AS1 | c.1522T>C (p.Phe508Leu) c.*1236T>C (n.*1236T>C) c.1339T>C (p.Phe447Leu) c.*80T>C (n.*80T>C) c.*1346T>C (n.*1346T>C) c.1096T>C (p.Phe366Leu) c.1432T>C (p.Phe478Leu) c.1612T>C (p.Phe538Leu) c.1279T>C (p.Phe427Leu) n.221+1140A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117559593T>G | CA4451015 | CFTR,CFTR-AS1 | c.1522T>G (p.Phe508Val) c.*1236T>G (n.*1236T>G) c.1339T>G (p.Phe447Val) c.*80T>G (n.*80T>G) c.*1346T>G (n.*1346T>G) c.1096T>G (p.Phe366Val) c.1432T>G (p.Phe478Val) c.1612T>G (p.Phe538Val) c.1279T>G (p.Phe427Val) n.221+1140A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559593T= | CA1737384687 | CFTR,CFTR-AS1 | c.1522T= (p.Phe508=) c.*1236T= (n.*1236T=) c.1339T= (p.Phe447=) c.*80T= (n.*80T=) c.*1346T= (n.*1346T=) c.1096T= (p.Phe366=) c.1432T= (p.Phe478=) c.1612T= (p.Phe538=) c.1279T= (p.Phe427=) n.221+1140A= | |
| 7 | g.117559593_117559595del | CA164967779 | CFTR,CFTR-AS1 | c.1522_1524del (p.Phe508del) c.*1236_*1238del (n.*1236_*1238del) c.1339_1341del (p.Phe447del) c.*80_*82del (n.*80_*82del) c.*1346_*1348del (n.*1346_*1348del) c.1096_1098del (p.Phe366del) c.1432_1434del (p.Phe478del) c.1612_1614del (p.Phe538del) c.1279_1281del (p.Phe427del) n.221+1138_221+1140del | dbSNP |
| 7 | g.117559595del | CA918111829 | CFTR,CFTR-AS1 | c.1524del (p.Phe508LeufsTer19) c.*1238del (n.*1238del) c.1341del (p.Phe447LeufsTer19) c.*82del (n.*82del) c.*1348del (n.*1348del) c.1098del (p.Phe366LeufsTer19) c.1434del (p.Phe478LeufsTer19) c.1614del (p.Phe538LeufsTer19) c.1281del (p.Phe427LeufsTer19) n.221+1140del | dbSNP |
| 7 | g.117559594T>A | CA368984727 | CFTR,CFTR-AS1 | c.1523T>A (p.Phe508Tyr) c.*1237T>A (n.*1237T>A) c.1340T>A (p.Phe447Tyr) c.*81T>A (n.*81T>A) c.*1347T>A (n.*1347T>A) c.1097T>A (p.Phe366Tyr) c.1433T>A (p.Phe478Tyr) c.1613T>A (p.Phe538Tyr) c.1280T>A (p.Phe427Tyr) n.221+1139A>T | dbSNP gnomAD v4 |
| 7 | g.117559594T>C | CA326527 | CFTR,CFTR-AS1 | c.1523T>C (p.Phe508Ser) c.*1237T>C (n.*1237T>C) c.1340T>C (p.Phe447Ser) c.*81T>C (n.*81T>C) c.*1347T>C (n.*1347T>C) c.1097T>C (p.Phe366Ser) c.1433T>C (p.Phe478Ser) c.1613T>C (p.Phe538Ser) c.1280T>C (p.Phe427Ser) n.221+1139A>G | dbSNP |
| 7 | g.117559594T>G | CA146695 | CFTR,CFTR-AS1 | c.1523T>G (p.Phe508Cys) c.*1237T>G (n.*1237T>G) c.1340T>G (p.Phe447Cys) c.*81T>G (n.*81T>G) c.*1347T>G (n.*1347T>G) c.1097T>G (p.Phe366Cys) c.1433T>G (p.Phe478Cys) c.1613T>G (p.Phe538Cys) c.1280T>G (p.Phe427Cys) n.221+1139A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117559594T>G;117642472G>A] | CA2573102335 | CFTR | c.[1523T>G;3552G>A] (p.[Phe508Cys;Glu1184=]) c.[*1237T>G;*3466G>A] (n.[*1237T>G;*3466G>A]) c.[1340T>G;3569G>A] (p.[Phe447Cys;Ser1190Asn]) c.[1523T>G;3752G>A] (p.[Phe508Cys;Ser1251Asn]) c.[1523T>G;*405G>A] ([p.Phe508Cys;n.*405G>A]) c.[1523T>G;*413G>A] ([p.Phe508Cys;n.*413G>A]) c.[1523T>G;*2127G>A] ([p.Phe508Cys;n.*2127G>A]) c.[1523T>G;3746G>A] (p.[Phe508Cys;Ser1249Asn]) c.[*1347T>G;*3576G>A] (n.[*1347T>G;*3576G>A]) c.[1097T>G;3326G>A] (p.[Phe366Cys;Ser1109Asn]) c.[1433T>G;3662G>A] (p.[Phe478Cys;Ser1221Asn]) c.[1613T>G;3842G>A] (p.[Phe538Cys;Ser1281Asn]) c.[1280T>G;3509G>A] (p.[Phe427Cys;Ser1170Asn]) | ClinVar |
| 7 | g.117559594T= | CA1737384691 | CFTR,CFTR-AS1 | c.1523T= (p.Phe508=) c.*1237T= (n.*1237T=) c.1340T= (p.Phe447=) c.*81T= (n.*81T=) c.*1347T= (n.*1347T=) c.1097T= (p.Phe366=) c.1433T= (p.Phe478=) c.1613T= (p.Phe538=) c.1280T= (p.Phe427=) n.221+1139A= | |
| 7 | g.117559595T>A | CA368984730 | CFTR,CFTR-AS1 | c.1524T>A (p.Phe508Leu) c.*1238T>A (n.*1238T>A) c.1341T>A (p.Phe447Leu) c.*82T>A (n.*82T>A) c.*1348T>A (n.*1348T>A) c.1098T>A (p.Phe366Leu) c.1434T>A (p.Phe478Leu) c.1614T>A (p.Phe538Leu) c.1281T>A (p.Phe427Leu) n.221+1138A>T | |
| 7 | g.117559595T>C | CA457228869 | CFTR,CFTR-AS1 | c.1524T>C (p.Phe508=) c.*1238T>C (n.*1238T>C) c.1341T>C (p.Phe447=) c.*82T>C (n.*82T>C) c.*1348T>C (n.*1348T>C) c.1098T>C (p.Phe366=) c.1434T>C (p.Phe478=) c.1614T>C (p.Phe538=) c.1281T>C (p.Phe427=) n.221+1138A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117559595T>G | CA368984737 | CFTR,CFTR-AS1 | c.1524T>G (p.Phe508Leu) c.*1238T>G (n.*1238T>G) c.1341T>G (p.Phe447Leu) c.*82T>G (n.*82T>G) c.*1348T>G (n.*1348T>G) c.1098T>G (p.Phe366Leu) c.1434T>G (p.Phe478Leu) c.1614T>G (p.Phe538Leu) c.1281T>G (p.Phe427Leu) n.221+1138A>C | |
| 7 | g.117559595T= | CA1737384703 | CFTR,CFTR-AS1 | c.1524T= (p.Phe508=) c.*1238T= (n.*1238T=) c.1341T= (p.Phe447=) c.*82T= (n.*82T=) c.*1348T= (n.*1348T=) c.1098T= (p.Phe366=) c.1434T= (p.Phe478=) c.1614T= (p.Phe538=) c.1281T= (p.Phe427=) n.221+1138A= |