| 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_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_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.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.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.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.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= | |
| 7 | g.117559596G>A | CA368984741 | CFTR,CFTR-AS1 | c.1525G>A (p.Gly509Ser) c.*1239G>A (n.*1239G>A) c.1342G>A (p.Gly448Ser) c.*83G>A (n.*83G>A) c.*1349G>A (n.*1349G>A) c.1099G>A (p.Gly367Ser) c.1435G>A (p.Gly479Ser) c.1615G>A (p.Gly539Ser) c.1282G>A (p.Gly428Ser) n.221+1137C>T | |
| 7 | g.117559596G>C | CA368984742 | CFTR,CFTR-AS1 | c.1525G>C (p.Gly509Arg) c.*1239G>C (n.*1239G>C) c.1342G>C (p.Gly448Arg) c.*83G>C (n.*83G>C) c.*1349G>C (n.*1349G>C) c.1099G>C (p.Gly367Arg) c.1435G>C (p.Gly479Arg) c.1615G>C (p.Gly539Arg) c.1282G>C (p.Gly428Arg) n.221+1137C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559596G= | CA1737384709 | CFTR,CFTR-AS1 | c.1525G= (p.Gly509=) c.*1239G= (n.*1239G=) c.1342G= (p.Gly448=) c.*83G= (n.*83G=) c.*1349G= (n.*1349G=) c.1099G= (p.Gly367=) c.1435G= (p.Gly479=) c.1615G= (p.Gly539=) c.1282G= (p.Gly428=) n.221+1137C= | |
| 7 | g.117559596G>T | CA368984744 | CFTR,CFTR-AS1 | c.1525G>T (p.Gly509Cys) c.*1239G>T (n.*1239G>T) c.1342G>T (p.Gly448Cys) c.*83G>T (n.*83G>T) c.*1349G>T (n.*1349G>T) c.1099G>T (p.Gly367Cys) c.1435G>T (p.Gly479Cys) c.1615G>T (p.Gly539Cys) c.1282G>T (p.Gly428Cys) n.221+1137C>A | |
| 7 | g.117559597G>A | CA368984749 | CFTR,CFTR-AS1 | c.1526G>A (p.Gly509Asp) c.*1240G>A (n.*1240G>A) c.1343G>A (p.Gly448Asp) c.*84G>A (n.*84G>A) c.*1350G>A (n.*1350G>A) c.1100G>A (p.Gly367Asp) c.1436G>A (p.Gly479Asp) c.1616G>A (p.Gly539Asp) c.1283G>A (p.Gly428Asp) n.221+1136C>T | |
| 7 | g.117559597G>C | CA368984748 | CFTR,CFTR-AS1 | c.1526G>C (p.Gly509Ala) c.*1240G>C (n.*1240G>C) c.1343G>C (p.Gly448Ala) c.*84G>C (n.*84G>C) c.*1350G>C (n.*1350G>C) c.1100G>C (p.Gly367Ala) c.1436G>C (p.Gly479Ala) c.1616G>C (p.Gly539Ala) c.1283G>C (p.Gly428Ala) n.221+1136C>G | |
| 7 | g.117559597G>T | CA368984747 | CFTR,CFTR-AS1 | c.1526G>T (p.Gly509Val) c.*1240G>T (n.*1240G>T) c.1343G>T (p.Gly448Val) c.*84G>T (n.*84G>T) c.*1350G>T (n.*1350G>T) c.1100G>T (p.Gly367Val) c.1436G>T (p.Gly479Val) c.1616G>T (p.Gly539Val) c.1283G>T (p.Gly428Val) n.221+1136C>A | ClinVar gnomAD v4 |
| 7 | g.117559598T>A | CA457228870 | CFTR,CFTR-AS1 | c.1527T>A (p.Gly509=) c.*1241T>A (n.*1241T>A) c.1344T>A (p.Gly448=) c.*85T>A (n.*85T>A) c.*1351T>A (n.*1351T>A) c.1101T>A (p.Gly367=) c.1437T>A (p.Gly479=) c.1617T>A (p.Gly539=) c.1284T>A (p.Gly428=) n.221+1135A>T | |
| 7 | g.117559598T>C | CA457228871 | CFTR,CFTR-AS1 | c.1527T>C (p.Gly509=) c.*1241T>C (n.*1241T>C) c.1344T>C (p.Gly448=) c.*85T>C (n.*85T>C) c.*1351T>C (n.*1351T>C) c.1101T>C (p.Gly367=) c.1437T>C (p.Gly479=) c.1617T>C (p.Gly539=) c.1284T>C (p.Gly428=) n.221+1135A>G | |
| 7 | g.117559598T>G | CA457228872 | CFTR,CFTR-AS1 | c.1527T>G (p.Gly509=) c.*1241T>G (n.*1241T>G) c.1344T>G (p.Gly448=) c.*85T>G (n.*85T>G) c.*1351T>G (n.*1351T>G) c.1101T>G (p.Gly367=) c.1437T>G (p.Gly479=) c.1617T>G (p.Gly539=) c.1284T>G (p.Gly428=) n.221+1135A>C | |
| 7 | g.117559599del | CA2573130180 | CFTR,CFTR-AS1 | c.1528del (p.Val510PhefsTer17) c.*1242del (n.*1242del) c.1345del (p.Val449PhefsTer17) c.*86del (n.*86del) c.*1352del (n.*1352del) c.1102del (p.Val368PhefsTer17) c.1438del (p.Val480PhefsTer17) c.1618del (p.Val540PhefsTer17) c.1285del (p.Val429PhefsTer17) n.221+1134del | |
| 7 | g.117559599G>A | CA4451017 | CFTR,CFTR-AS1 | c.1528G>A (p.Val510Ile) c.*1242G>A (n.*1242G>A) c.1345G>A (p.Val449Ile) c.*86G>A (n.*86G>A) c.*1352G>A (n.*1352G>A) c.1102G>A (p.Val368Ile) c.1438G>A (p.Val480Ile) c.1618G>A (p.Val540Ile) c.1285G>A (p.Val429Ile) n.221+1134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117559599G>C | CA368984755 | CFTR,CFTR-AS1 | c.1528G>C (p.Val510Leu) c.*1242G>C (n.*1242G>C) c.1345G>C (p.Val449Leu) c.*86G>C (n.*86G>C) c.*1352G>C (n.*1352G>C) c.1102G>C (p.Val368Leu) c.1438G>C (p.Val480Leu) c.1618G>C (p.Val540Leu) c.1285G>C (p.Val429Leu) n.221+1134C>G | |
| 7 | g.117559599G= | CA1737384714 | CFTR,CFTR-AS1 | c.1528G= (p.Val510=) c.*1242G= (n.*1242G=) c.1345G= (p.Val449=) c.*86G= (n.*86G=) c.*1352G= (n.*1352G=) c.1102G= (p.Val368=) c.1438G= (p.Val480=) c.1618G= (p.Val540=) c.1285G= (p.Val429=) n.221+1134C= | |
| 7 | g.117559599G>T | CA368984752 | CFTR,CFTR-AS1 | c.1528G>T (p.Val510Phe) c.*1242G>T (n.*1242G>T) c.1345G>T (p.Val449Phe) c.*86G>T (n.*86G>T) c.*1352G>T (n.*1352G>T) c.1102G>T (p.Val368Phe) c.1438G>T (p.Val480Phe) c.1618G>T (p.Val540Phe) c.1285G>T (p.Val429Phe) n.221+1134C>A | ClinVar dbSNP |
| 7 | g.117559599_117559601delinsGTT | CA1737384717 | CFTR,CFTR-AS1 | c.1528_1530delinsGTT (p.Val510=) c.*1242_*1244delinsGTT (n.*1242_*1244delinsGTT) c.1345_1347delinsGTT (p.Val449=) c.*86_*88delinsGTT (n.*86_*88delinsGTT) c.*1352_*1354delinsGTT (n.*1352_*1354delinsGTT) c.1102_1104delinsGTT (p.Val368=) c.1438_1440delinsGTT (p.Val480=) c.1618_1620delinsGTT (p.Val540=) c.1285_1287delinsGTT (p.Val429=) n.221+1132_221+1134delinsAAC | |
| 7 | g.117559600T>A | CA368984757 | CFTR,CFTR-AS1 | c.1529T>A (p.Val510Asp) c.*1243T>A (n.*1243T>A) c.1346T>A (p.Val449Asp) c.*87T>A (n.*87T>A) c.*1353T>A (n.*1353T>A) c.1103T>A (p.Val368Asp) c.1439T>A (p.Val480Asp) c.1619T>A (p.Val540Asp) c.1286T>A (p.Val429Asp) n.221+1133A>T | |
| 7 | g.117559600T>C | CA368984758 | CFTR,CFTR-AS1 | c.1529T>C (p.Val510Ala) c.*1243T>C (n.*1243T>C) c.1346T>C (p.Val449Ala) c.*87T>C (n.*87T>C) c.*1353T>C (n.*1353T>C) c.1103T>C (p.Val368Ala) c.1439T>C (p.Val480Ala) c.1619T>C (p.Val540Ala) c.1286T>C (p.Val429Ala) n.221+1133A>G | gnomAD v4 |
| 7 | g.117559600T>G | CA368984761 | CFTR,CFTR-AS1 | c.1529T>G (p.Val510Gly) c.*1243T>G (n.*1243T>G) c.1346T>G (p.Val449Gly) c.*87T>G (n.*87T>G) c.*1353T>G (n.*1353T>G) c.1103T>G (p.Val368Gly) c.1439T>G (p.Val480Gly) c.1619T>G (p.Val540Gly) c.1286T>G (p.Val429Gly) n.221+1133A>C | |
| 7 | g.117559601_117559602del | CA913190000 | CFTR,CFTR-AS1 | c.1530_1531del (p.Ser511LeufsTer2) c.*1244_*1245del (n.*1244_*1245del) c.1347_1348del (p.Ser450LeufsTer2) c.*88_*89del (n.*88_*89del) c.*1354_*1355del (n.*1354_*1355del) c.1104_1105del (p.Ser369LeufsTer2) c.1440_1441del (p.Ser481LeufsTer2) c.1620_1621del (p.Ser541LeufsTer2) c.1287_1288del (p.Ser430LeufsTer2) n.221+1132_221+1133del | ClinVar dbSNP |