Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117559582A>C | CA368984668 | CFTR,CFTR-AS1 | c.1511A>C (p.Glu504Ala) c.*1225A>C (n.*1225A>C) c.1328A>C (p.Glu443Ala) c.*69A>C (n.*69A>C) c.*1335A>C (n.*1335A>C) c.1085A>C (p.Glu362Ala) c.1421A>C (p.Glu474Ala) c.1601A>C (p.Glu534Ala) c.1268A>C (p.Glu423Ala) n.221+1151T>G | |
7 | g.117559582A>G | CA368984669 | CFTR,CFTR-AS1 | c.1511A>G (p.Glu504Gly) c.*1225A>G (n.*1225A>G) c.1328A>G (p.Glu443Gly) c.*69A>G (n.*69A>G) c.*1335A>G (n.*1335A>G) c.1085A>G (p.Glu362Gly) c.1421A>G (p.Glu474Gly) c.1601A>G (p.Glu534Gly) c.1268A>G (p.Glu423Gly) n.221+1151T>C | |
7 | g.117559582A>T | CA368984672 | CFTR,CFTR-AS1 | c.1511A>T (p.Glu504Val) c.*1225A>T (n.*1225A>T) c.1328A>T (p.Glu443Val) c.*69A>T (n.*69A>T) c.*1335A>T (n.*1335A>T) c.1085A>T (p.Glu362Val) c.1421A>T (p.Glu474Val) c.1601A>T (p.Glu534Val) c.1268A>T (p.Glu423Val) n.221+1151T>A | |
7 | g.117559585del | CA2695208324 | CFTR,CFTR-AS1 | c.1514del (p.Asn505IlefsTer22) c.*1228del (n.*1228del) c.1331del (p.Asn444IlefsTer22) c.*72del (n.*72del) c.*1338del (n.*1338del) c.1088del (p.Asn363IlefsTer22) c.1424del (p.Asn475IlefsTer22) c.1604del (p.Asn535IlefsTer22) c.1271del (p.Asn424IlefsTer22) n.221+1151del | |
7 | g.117559583A>C | CA368984673 | CFTR,CFTR-AS1 | c.1512A>C (p.Glu504Asp) c.*1226A>C (n.*1226A>C) c.1329A>C (p.Glu443Asp) c.*70A>C (n.*70A>C) c.*1336A>C (n.*1336A>C) c.1086A>C (p.Glu362Asp) c.1422A>C (p.Glu474Asp) c.1602A>C (p.Glu534Asp) c.1269A>C (p.Glu423Asp) n.221+1150T>G | |
7 | g.117559583A>G | CA457228855 | CFTR,CFTR-AS1 | c.1512A>G (p.Glu504=) c.*1226A>G (n.*1226A>G) c.1329A>G (p.Glu443=) c.*70A>G (n.*70A>G) c.*1336A>G (n.*1336A>G) c.1086A>G (p.Glu362=) c.1422A>G (p.Glu474=) c.1602A>G (p.Glu534=) c.1269A>G (p.Glu423=) n.221+1150T>C | |
7 | g.117559583A>T | CA368984675 | CFTR,CFTR-AS1 | c.1512A>T (p.Glu504Asp) c.*1226A>T (n.*1226A>T) c.1329A>T (p.Glu443Asp) c.*70A>T (n.*70A>T) c.*1336A>T (n.*1336A>T) c.1086A>T (p.Glu362Asp) c.1422A>T (p.Glu474Asp) c.1602A>T (p.Glu534Asp) c.1269A>T (p.Glu423Asp) n.221+1150T>A | |
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.117559584A>C | CA368984677 | CFTR,CFTR-AS1 | c.1513A>C (p.Asn505His) c.*1227A>C (n.*1227A>C) c.1330A>C (p.Asn444His) c.*71A>C (n.*71A>C) c.*1337A>C (n.*1337A>C) c.1087A>C (p.Asn363His) c.1423A>C (p.Asn475His) c.1603A>C (p.Asn535His) c.1270A>C (p.Asn424His) n.221+1149T>G | |
7 | g.117559584A>G | CA368984678 | CFTR,CFTR-AS1 | c.1513A>G (p.Asn505Asp) c.*1227A>G (n.*1227A>G) c.1330A>G (p.Asn444Asp) c.*71A>G (n.*71A>G) c.*1337A>G (n.*1337A>G) c.1087A>G (p.Asn363Asp) c.1423A>G (p.Asn475Asp) c.1603A>G (p.Asn535Asp) c.1270A>G (p.Asn424Asp) n.221+1149T>C | |
7 | g.117559584A>T | CA368984680 | CFTR,CFTR-AS1 | c.1513A>T (p.Asn505Tyr) c.*1227A>T (n.*1227A>T) c.1330A>T (p.Asn444Tyr) c.*71A>T (n.*71A>T) c.*1337A>T (n.*1337A>T) c.1087A>T (p.Asn363Tyr) c.1423A>T (p.Asn475Tyr) c.1603A>T (p.Asn535Tyr) c.1270A>T (p.Asn424Tyr) n.221+1149T>A | |
7 | g.117559585A>C | CA368984687 | CFTR,CFTR-AS1 | c.1514A>C (p.Asn505Thr) c.*1228A>C (n.*1228A>C) c.1331A>C (p.Asn444Thr) c.*72A>C (n.*72A>C) c.*1338A>C (n.*1338A>C) c.1088A>C (p.Asn363Thr) c.1424A>C (p.Asn475Thr) c.1604A>C (p.Asn535Thr) c.1271A>C (p.Asn424Thr) n.221+1148T>G | |
7 | g.117559585A>G | CA368984689 | CFTR,CFTR-AS1 | c.1514A>G (p.Asn505Ser) c.*1228A>G (n.*1228A>G) c.1331A>G (p.Asn444Ser) c.*72A>G (n.*72A>G) c.*1338A>G (n.*1338A>G) c.1088A>G (p.Asn363Ser) c.1424A>G (p.Asn475Ser) c.1604A>G (p.Asn535Ser) c.1271A>G (p.Asn424Ser) n.221+1148T>C | |
7 | g.117559585A>T | CA368984690 | CFTR,CFTR-AS1 | c.1514A>T (p.Asn505Ile) c.*1228A>T (n.*1228A>T) c.1331A>T (p.Asn444Ile) c.*72A>T (n.*72A>T) c.*1338A>T (n.*1338A>T) c.1088A>T (p.Asn363Ile) c.1424A>T (p.Asn475Ile) c.1604A>T (p.Asn535Ile) c.1271A>T (p.Asn424Ile) n.221+1148T>A | |
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.117559586T>A | CA368984695 | CFTR,CFTR-AS1 | c.1515T>A (p.Asn505Lys) c.*1229T>A (n.*1229T>A) c.1332T>A (p.Asn444Lys) c.*73T>A (n.*73T>A) c.*1339T>A (n.*1339T>A) c.1089T>A (p.Asn363Lys) c.1425T>A (p.Asn475Lys) c.1605T>A (p.Asn535Lys) c.1272T>A (p.Asn424Lys) n.221+1147A>T | |
7 | g.117559586T>C | CA457228858 | CFTR,CFTR-AS1 | c.1515T>C (p.Asn505=) c.*1229T>C (n.*1229T>C) c.1332T>C (p.Asn444=) c.*73T>C (n.*73T>C) c.*1339T>C (n.*1339T>C) c.1089T>C (p.Asn363=) c.1425T>C (p.Asn475=) c.1605T>C (p.Asn535=) c.1272T>C (p.Asn424=) n.221+1147A>G | ClinVar |
7 | g.117559586T>G | CA368984696 | CFTR,CFTR-AS1 | c.1515T>G (p.Asn505Lys) c.*1229T>G (n.*1229T>G) c.1332T>G (p.Asn444Lys) c.*73T>G (n.*73T>G) c.*1339T>G (n.*1339T>G) c.1089T>G (p.Asn363Lys) c.1425T>G (p.Asn475Lys) c.1605T>G (p.Asn535Lys) c.1272T>G (p.Asn424Lys) n.221+1147A>C | |
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.117559587A= | CA1737384615 | CFTR,CFTR-AS1 | c.1516A= (p.Ile506=) c.*1230A= (n.*1230A=) c.1333A= (p.Ile445=) c.*74A= (n.*74A=) c.*1340A= (n.*1340A=) c.1090A= (p.Ile364=) c.1426A= (p.Ile476=) c.1606A= (p.Ile536=) c.1273A= (p.Ile425=) n.221+1146T= | |
7 | g.117559587A>C | CA326519 | CFTR,CFTR-AS1 | c.1516A>C (p.Ile506Leu) c.*1230A>C (n.*1230A>C) c.1333A>C (p.Ile445Leu) c.*74A>C (n.*74A>C) c.*1340A>C (n.*1340A>C) c.1090A>C (p.Ile364Leu) c.1426A>C (p.Ile476Leu) c.1606A>C (p.Ile536Leu) c.1273A>C (p.Ile425Leu) n.221+1146T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559587A>G | CA254110 | CFTR,CFTR-AS1 | c.1516A>G (p.Ile506Val) c.*1230A>G (n.*1230A>G) c.1333A>G (p.Ile445Val) c.*74A>G (n.*74A>G) c.*1340A>G (n.*1340A>G) c.1090A>G (p.Ile364Val) c.1426A>G (p.Ile476Val) c.1606A>G (p.Ile536Val) c.1273A>G (p.Ile425Val) n.221+1146T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559587A>T | CA368984703 | CFTR,CFTR-AS1 | c.1516A>T (p.Ile506Phe) c.*1230A>T (n.*1230A>T) c.1333A>T (p.Ile445Phe) c.*74A>T (n.*74A>T) c.*1340A>T (n.*1340A>T) c.1090A>T (p.Ile364Phe) c.1426A>T (p.Ile476Phe) c.1606A>T (p.Ile536Phe) c.1273A>T (p.Ile425Phe) n.221+1146T>A | |
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.117559588T>A | CA368984704 | CFTR,CFTR-AS1 | c.1517T>A (p.Ile506Asn) c.*1231T>A (n.*1231T>A) c.1334T>A (p.Ile445Asn) c.*75T>A (n.*75T>A) c.*1341T>A (n.*1341T>A) c.1091T>A (p.Ile364Asn) c.1427T>A (p.Ile476Asn) c.1607T>A (p.Ile536Asn) c.1274T>A (p.Ile425Asn) n.221+1145A>T | ClinVar |
7 | g.117559588T>C | CA326521 | CFTR,CFTR-AS1 | c.1517T>C (p.Ile506Thr) c.*1231T>C (n.*1231T>C) c.1334T>C (p.Ile445Thr) c.*75T>C (n.*75T>C) c.*1341T>C (n.*1341T>C) c.1091T>C (p.Ile364Thr) c.1427T>C (p.Ile476Thr) c.1607T>C (p.Ile536Thr) c.1274T>C (p.Ile425Thr) n.221+1145A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559588T>G | CA326523 | CFTR,CFTR-AS1 | c.1517T>G (p.Ile506Ser) c.*1231T>G (n.*1231T>G) c.1334T>G (p.Ile445Ser) c.*75T>G (n.*75T>G) c.*1341T>G (n.*1341T>G) c.1091T>G (p.Ile364Ser) c.1427T>G (p.Ile476Ser) c.1607T>G (p.Ile536Ser) c.1274T>G (p.Ile425Ser) n.221+1145A>C | ClinVar dbSNP |
7 | g.117559588T= | CA1737384626 | CFTR,CFTR-AS1 | c.1517T= (p.Ile506=) c.*1231T= (n.*1231T=) c.1334T= (p.Ile445=) c.*75T= (n.*75T=) c.*1341T= (n.*1341T=) c.1091T= (p.Ile364=) c.1427T= (p.Ile476=) c.1607T= (p.Ile536=) c.1274T= (p.Ile425=) n.221+1145A= | |
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]) | |
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]) | |
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 |
7 | g.117559601T>A | CA457228873 | CFTR,CFTR-AS1 | c.1530T>A (p.Val510=) c.*1244T>A (n.*1244T>A) c.1347T>A (p.Val449=) c.*88T>A (n.*88T>A) c.*1354T>A (n.*1354T>A) c.1104T>A (p.Val368=) c.1440T>A (p.Val480=) c.1620T>A (p.Val540=) c.1287T>A (p.Val429=) n.221+1132A>T | |
7 | g.117559601T>C | CA457228874 | CFTR,CFTR-AS1 | c.1530T>C (p.Val510=) c.*1244T>C (n.*1244T>C) c.1347T>C (p.Val449=) c.*88T>C (n.*88T>C) c.*1354T>C (n.*1354T>C) c.1104T>C (p.Val368=) c.1440T>C (p.Val480=) c.1620T>C (p.Val540=) c.1287T>C (p.Val429=) n.221+1132A>G | |
7 | g.117559601T>G | CA457228875 | CFTR,CFTR-AS1 | c.1530T>G (p.Val510=) c.*1244T>G (n.*1244T>G) c.1347T>G (p.Val449=) c.*88T>G (n.*88T>G) c.*1354T>G (n.*1354T>G) c.1104T>G (p.Val368=) c.1440T>G (p.Val480=) c.1620T>G (p.Val540=) c.1287T>G (p.Val429=) n.221+1132A>C | |
7 | g.117559602T>A | CA368984763 | CFTR,CFTR-AS1 | c.1531T>A (p.Ser511Thr) c.*1245T>A (n.*1245T>A) c.1348T>A (p.Ser450Thr) c.*89T>A (n.*89T>A) c.*1355T>A (n.*1355T>A) c.1105T>A (p.Ser369Thr) c.1441T>A (p.Ser481Thr) c.1621T>A (p.Ser541Thr) c.1288T>A (p.Ser430Thr) n.221+1131A>T | |
7 | g.117559602T>C | CA368984766 | CFTR,CFTR-AS1 | c.1531T>C (p.Ser511Pro) c.*1245T>C (n.*1245T>C) c.1348T>C (p.Ser450Pro) c.*89T>C (n.*89T>C) c.*1355T>C (n.*1355T>C) c.1105T>C (p.Ser369Pro) c.1441T>C (p.Ser481Pro) c.1621T>C (p.Ser541Pro) c.1288T>C (p.Ser430Pro) n.221+1131A>G | gnomAD v4 |
7 | g.117559602T>G | CA368984767 | CFTR,CFTR-AS1 | c.1531T>G (p.Ser511Ala) c.*1245T>G (n.*1245T>G) c.1348T>G (p.Ser450Ala) c.*89T>G (n.*89T>G) c.*1355T>G (n.*1355T>G) c.1105T>G (p.Ser369Ala) c.1441T>G (p.Ser481Ala) c.1621T>G (p.Ser541Ala) c.1288T>G (p.Ser430Ala) n.221+1131A>C | |
7 | g.117559603C>A | CA368984769 | CFTR,CFTR-AS1 | c.1532C>A (p.Ser511Tyr) c.*1246C>A (n.*1246C>A) c.1349C>A (p.Ser450Tyr) c.*90C>A (n.*90C>A) c.*1356C>A (n.*1356C>A) c.1106C>A (p.Ser369Tyr) c.1442C>A (p.Ser481Tyr) c.1622C>A (p.Ser541Tyr) c.1289C>A (p.Ser430Tyr) n.221+1130G>T | |
7 | g.117559603C>G | CA368984771 | CFTR,CFTR-AS1 | c.1532C>G (p.Ser511Cys) c.*1246C>G (n.*1246C>G) c.1349C>G (p.Ser450Cys) c.*90C>G (n.*90C>G) c.*1356C>G (n.*1356C>G) c.1106C>G (p.Ser369Cys) c.1442C>G (p.Ser481Cys) c.1622C>G (p.Ser541Cys) c.1289C>G (p.Ser430Cys) n.221+1130G>C | |
7 | g.117559603C>T | CA368984774 | CFTR,CFTR-AS1 | c.1532C>T (p.Ser511Phe) c.*1246C>T (n.*1246C>T) c.1349C>T (p.Ser450Phe) c.*90C>T (n.*90C>T) c.*1356C>T (n.*1356C>T) c.1106C>T (p.Ser369Phe) c.1442C>T (p.Ser481Phe) c.1622C>T (p.Ser541Phe) c.1289C>T (p.Ser430Phe) n.221+1130G>A | gnomAD v4 COSMIC |
7 | g.117559603_117559604insTGAAAC | CA2579000011 | CFTR,CFTR-AS1 | c.1532_1533insTGAAAC (p.Ser511_Tyr512insGluThr) c.*1246_*1247insTGAAAC (n.*1246_*1247insTGAAAC) c.1349_1350insTGAAAC (p.Ser450_Tyr451insGluThr) c.*90_*91insTGAAAC (n.*90_*91insTGAAAC) c.*1356_*1357insTGAAAC (n.*1356_*1357insTGAAAC) c.1106_1107insTGAAAC (p.Ser369_Tyr370insGluThr) c.1442_1443insTGAAAC (p.Ser481_Tyr482insGluThr) c.1622_1623insTGAAAC (p.Ser541_Tyr542insGluThr) c.1289_1290insTGAAAC (p.Ser430_Tyr431insGluThr) n.221+1130_221+1131insTTTCAG | |
7 | g.117559604C>A | CA457228876 | CFTR,CFTR-AS1 | c.1533C>A (p.Ser511=) c.*1247C>A (n.*1247C>A) c.1350C>A (p.Ser450=) c.*91C>A (n.*91C>A) c.*1357C>A (n.*1357C>A) c.1107C>A (p.Ser369=) c.1443C>A (p.Ser481=) c.1623C>A (p.Ser541=) c.1290C>A (p.Ser430=) n.221+1129G>T | |
7 | g.117559604C>G | CA457228877 | CFTR,CFTR-AS1 | c.1533C>G (p.Ser511=) c.*1247C>G (n.*1247C>G) c.1350C>G (p.Ser450=) c.*91C>G (n.*91C>G) c.*1357C>G (n.*1357C>G) c.1107C>G (p.Ser369=) c.1443C>G (p.Ser481=) c.1623C>G (p.Ser541=) c.1290C>G (p.Ser430=) n.221+1129G>C | |
7 | g.117559604C>T | CA457228878 | CFTR,CFTR-AS1 | c.1533C>T (p.Ser511=) c.*1247C>T (n.*1247C>T) c.1350C>T (p.Ser450=) c.*91C>T (n.*91C>T) c.*1357C>T (n.*1357C>T) c.1107C>T (p.Ser369=) c.1443C>T (p.Ser481=) c.1623C>T (p.Ser541=) c.1290C>T (p.Ser430=) n.221+1129G>A | gnomAD v4 |
7 | g.117559605T>A | CA368984781 | CFTR,CFTR-AS1 | c.1534T>A (p.Tyr512Asn) c.*1248T>A (n.*1248T>A) c.1351T>A (p.Tyr451Asn) c.*92T>A (n.*92T>A) c.*1358T>A (n.*1358T>A) c.1108T>A (p.Tyr370Asn) c.1444T>A (p.Tyr482Asn) c.1624T>A (p.Tyr542Asn) c.1291T>A (p.Tyr431Asn) n.221+1128A>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559605T>C | CA368984782 | CFTR,CFTR-AS1 | c.1534T>C (p.Tyr512His) c.*1248T>C (n.*1248T>C) c.1351T>C (p.Tyr451His) c.*92T>C (n.*92T>C) c.*1358T>C (n.*1358T>C) c.1108T>C (p.Tyr370His) c.1444T>C (p.Tyr482His) c.1624T>C (p.Tyr542His) c.1291T>C (p.Tyr431His) n.221+1128A>G | |
7 | g.117559605T>G | CA368984784 | CFTR,CFTR-AS1 | c.1534T>G (p.Tyr512Asp) c.*1248T>G (n.*1248T>G) c.1351T>G (p.Tyr451Asp) c.*92T>G (n.*92T>G) c.*1358T>G (n.*1358T>G) c.1108T>G (p.Tyr370Asp) c.1444T>G (p.Tyr482Asp) c.1624T>G (p.Tyr542Asp) c.1291T>G (p.Tyr431Asp) n.221+1128A>C | |
7 | g.117559605T= | CA1737384729 | CFTR,CFTR-AS1 | c.1534T= (p.Tyr512=) c.*1248T= (n.*1248T=) c.1351T= (p.Tyr451=) c.*92T= (n.*92T=) c.*1358T= (n.*1358T=) c.1108T= (p.Tyr370=) c.1444T= (p.Tyr482=) c.1624T= (p.Tyr542=) c.1291T= (p.Tyr431=) n.221+1128A= | |
7 | g.117559606A= | CA1737384736 | CFTR,CFTR-AS1 | c.1535A= (p.Tyr512=) c.*1249A= (n.*1249A=) c.1352A= (p.Tyr451=) c.*93A= (n.*93A=) c.*1359A= (n.*1359A=) c.1109A= (p.Tyr370=) c.1445A= (p.Tyr482=) c.1625A= (p.Tyr542=) c.1292A= (p.Tyr431=) n.221+1127T= | |
7 | g.117559606A>C | CA368984787 | CFTR,CFTR-AS1 | c.1535A>C (p.Tyr512Ser) c.*1249A>C (n.*1249A>C) c.1352A>C (p.Tyr451Ser) c.*93A>C (n.*93A>C) c.*1359A>C (n.*1359A>C) c.1109A>C (p.Tyr370Ser) c.1445A>C (p.Tyr482Ser) c.1625A>C (p.Tyr542Ser) c.1292A>C (p.Tyr431Ser) n.221+1127T>G | |
7 | g.117559606A>G | CA164967788 | CFTR,CFTR-AS1 | c.1535A>G (p.Tyr512Cys) c.*1249A>G (n.*1249A>G) c.1352A>G (p.Tyr451Cys) c.*93A>G (n.*93A>G) c.*1359A>G (n.*1359A>G) c.1109A>G (p.Tyr370Cys) c.1445A>G (p.Tyr482Cys) c.1625A>G (p.Tyr542Cys) c.1292A>G (p.Tyr431Cys) n.221+1127T>C | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559606A>T | CA368984789 | CFTR,CFTR-AS1 | c.1535A>T (p.Tyr512Phe) c.*1249A>T (n.*1249A>T) c.1352A>T (p.Tyr451Phe) c.*93A>T (n.*93A>T) c.*1359A>T (n.*1359A>T) c.1109A>T (p.Tyr370Phe) c.1445A>T (p.Tyr482Phe) c.1625A>T (p.Tyr542Phe) c.1292A>T (p.Tyr431Phe) n.221+1127T>A | |
7 | g.117559610_117559612del | CA2579000018 | CFTR,CFTR-AS1 | c.1539_1541del (p.Asp513del) c.*1253_*1255del (n.*1253_*1255del) c.1356_1358del (p.Asp452del) c.*97_*99del (n.*97_*99del) c.*1363_*1365del (n.*1363_*1365del) c.1113_1115del (p.Asp371del) c.1449_1451del (p.Asp483del) c.1629_1631del (p.Asp543del) c.1296_1298del (p.Asp432del) n.221+1125_221+1127del | |
7 | g.117559607T>A | CA368984793 | CFTR,CFTR-AS1 | c.1536T>A (p.Tyr512Ter) c.*1250T>A (n.*1250T>A) c.1353T>A (p.Tyr451Ter) c.*94T>A (n.*94T>A) c.*1360T>A (n.*1360T>A) c.1110T>A (p.Tyr370Ter) c.1446T>A (p.Tyr482Ter) c.1626T>A (p.Tyr542Ter) c.1293T>A (p.Tyr431Ter) n.221+1126A>T | |
7 | g.117559607T>C | CA457228879 | CFTR,CFTR-AS1 | c.1536T>C (p.Tyr512=) c.*1250T>C (n.*1250T>C) c.1353T>C (p.Tyr451=) c.*94T>C (n.*94T>C) c.*1360T>C (n.*1360T>C) c.1110T>C (p.Tyr370=) c.1446T>C (p.Tyr482=) c.1626T>C (p.Tyr542=) c.1293T>C (p.Tyr431=) n.221+1126A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559607T>G | CA368984796 | CFTR,CFTR-AS1 | c.1536T>G (p.Tyr512Ter) c.*1250T>G (n.*1250T>G) c.1353T>G (p.Tyr451Ter) c.*94T>G (n.*94T>G) c.*1360T>G (n.*1360T>G) c.1110T>G (p.Tyr370Ter) c.1446T>G (p.Tyr482Ter) c.1626T>G (p.Tyr542Ter) c.1293T>G (p.Tyr431Ter) n.221+1126A>C | |
7 | g.117559608G>A | CA368984799 | CFTR,CFTR-AS1 | c.1537G>A (p.Asp513Asn) c.*1251G>A (n.*1251G>A) c.1354G>A (p.Asp452Asn) c.*95G>A (n.*95G>A) c.*1361G>A (n.*1361G>A) c.1111G>A (p.Asp371Asn) c.1447G>A (p.Asp483Asn) c.1627G>A (p.Asp543Asn) c.1294G>A (p.Asp432Asn) n.221+1125C>T | COSMIC |
7 | g.117559608G>C | CA368984801 | CFTR,CFTR-AS1 | c.1537G>C (p.Asp513His) c.*1251G>C (n.*1251G>C) c.1354G>C (p.Asp452His) c.*95G>C (n.*95G>C) c.*1361G>C (n.*1361G>C) c.1111G>C (p.Asp371His) c.1447G>C (p.Asp483His) c.1627G>C (p.Asp543His) c.1294G>C (p.Asp432His) n.221+1125C>G | |
7 | g.117559608G= | CA1737384739 | CFTR,CFTR-AS1 | c.1537G= (p.Asp513=) c.*1251G= (n.*1251G=) c.1354G= (p.Asp452=) c.*95G= (n.*95G=) c.*1361G= (n.*1361G=) c.1111G= (p.Asp371=) c.1447G= (p.Asp483=) c.1627G= (p.Asp543=) c.1294G= (p.Asp432=) n.221+1125C= | |
7 | g.117559608G>T | CA4451018 | CFTR,CFTR-AS1 | c.1537G>T (p.Asp513Tyr) c.*1251G>T (n.*1251G>T) c.1354G>T (p.Asp452Tyr) c.*95G>T (n.*95G>T) c.*1361G>T (n.*1361G>T) c.1111G>T (p.Asp371Tyr) c.1447G>T (p.Asp483Tyr) c.1627G>T (p.Asp543Tyr) c.1294G>T (p.Asp432Tyr) n.221+1125C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559609A= | CA1737384743 | CFTR,CFTR-AS1 | c.1538A= (p.Asp513=) c.*1252A= (n.*1252A=) c.1355A= (p.Asp452=) c.*96A= (n.*96A=) c.*1362A= (n.*1362A=) c.1112A= (p.Asp371=) c.1448A= (p.Asp483=) c.1628A= (p.Asp543=) c.1295A= (p.Asp432=) n.221+1124T= | |
7 | g.117559609A>C | CA368984804 | CFTR,CFTR-AS1 | c.1538A>C (p.Asp513Ala) c.*1252A>C (n.*1252A>C) c.1355A>C (p.Asp452Ala) c.*96A>C (n.*96A>C) c.*1362A>C (n.*1362A>C) c.1112A>C (p.Asp371Ala) c.1448A>C (p.Asp483Ala) c.1628A>C (p.Asp543Ala) c.1295A>C (p.Asp432Ala) n.221+1124T>G | |
7 | g.117559609A>G | CA326529 | CFTR,CFTR-AS1 | c.1538A>G (p.Asp513Gly) c.*1252A>G (n.*1252A>G) c.1355A>G (p.Asp452Gly) c.*96A>G (n.*96A>G) c.*1362A>G (n.*1362A>G) c.1112A>G (p.Asp371Gly) c.1448A>G (p.Asp483Gly) c.1628A>G (p.Asp543Gly) c.1295A>G (p.Asp432Gly) n.221+1124T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559609A>T | CA368984805 | CFTR,CFTR-AS1 | c.1538A>T (p.Asp513Val) c.*1252A>T (n.*1252A>T) c.1355A>T (p.Asp452Val) c.*96A>T (n.*96A>T) c.*1362A>T (n.*1362A>T) c.1112A>T (p.Asp371Val) c.1448A>T (p.Asp483Val) c.1628A>T (p.Asp543Val) c.1295A>T (p.Asp432Val) n.221+1124T>A | |
7 | g.117559610T>A | CA368984806 | CFTR,CFTR-AS1 | c.1539T>A (p.Asp513Glu) c.*1253T>A (n.*1253T>A) c.1356T>A (p.Asp452Glu) c.*97T>A (n.*97T>A) c.*1363T>A (n.*1363T>A) c.1113T>A (p.Asp371Glu) c.1449T>A (p.Asp483Glu) c.1629T>A (p.Asp543Glu) c.1296T>A (p.Asp432Glu) n.221+1123A>T | gnomAD v4 |
7 | g.117559610T>C | CA457228880 | CFTR,CFTR-AS1 | c.1539T>C (p.Asp513=) c.*1253T>C (n.*1253T>C) c.1356T>C (p.Asp452=) c.*97T>C (n.*97T>C) c.*1363T>C (n.*1363T>C) c.1113T>C (p.Asp371=) c.1449T>C (p.Asp483=) c.1629T>C (p.Asp543=) c.1296T>C (p.Asp432=) n.221+1123A>G | ClinVar |
7 | g.117559610T>G | CA368984807 | CFTR,CFTR-AS1 | c.1539T>G (p.Asp513Glu) c.*1253T>G (n.*1253T>G) c.1356T>G (p.Asp452Glu) c.*97T>G (n.*97T>G) c.*1363T>G (n.*1363T>G) c.1113T>G (p.Asp371Glu) c.1449T>G (p.Asp483Glu) c.1629T>G (p.Asp543Glu) c.1296T>G (p.Asp432Glu) n.221+1123A>C | |
7 | g.117559610_117559623delinsTGAATATAGATACA | CA1737384750 | CFTR,CFTR-AS1 | c.1539_1552delinsTGAATATAGATACA (p.Asp513=) c.*1253_*1266delinsTGAATATAGATACA (n.*1253_*1266delinsTGAATATAGATACA) c.1356_1369delinsTGAATATAGATACA (p.Asp452=) c.*97_*110delinsTGAATATAGATACA (n.*97_*110delinsTGAATATAGATACA) c.*1363_*1376delinsTGAATATAGATACA (n.*1363_*1376delinsTGAATATAGATACA) c.1113_1126delinsTGAATATAGATACA (p.Asp371=) c.1449_1462delinsTGAATATAGATACA (p.Asp483=) c.1629_1642delinsTGAATATAGATACA (p.Asp543=) c.1296_1309delinsTGAATATAGATACA (p.Asp432=) n.221+1110_221+1123delinsTGTATCTATATTCA | |
7 | g.117559611G>A | CA368984810 | CFTR,CFTR-AS1 | c.1540G>A (p.Glu514Lys) c.*1254G>A (n.*1254G>A) c.1357G>A (p.Glu453Lys) c.*98G>A (n.*98G>A) c.*1364G>A (n.*1364G>A) c.1114G>A (p.Glu372Lys) c.1450G>A (p.Glu484Lys) c.1630G>A (p.Glu544Lys) c.1297G>A (p.Glu433Lys) n.221+1122C>T | |
7 | g.117559611G>C | CA368984812 | CFTR,CFTR-AS1 | c.1540G>C (p.Glu514Gln) c.*1254G>C (n.*1254G>C) c.1357G>C (p.Glu453Gln) c.*98G>C (n.*98G>C) c.*1364G>C (n.*1364G>C) c.1114G>C (p.Glu372Gln) c.1450G>C (p.Glu484Gln) c.1630G>C (p.Glu544Gln) c.1297G>C (p.Glu433Gln) n.221+1122C>G | |
7 | g.117559611G= | CA1737384761 | CFTR,CFTR-AS1 | c.1540G= (p.Glu514=) c.*1254G= (n.*1254G=) c.1357G= (p.Glu453=) c.*98G= (n.*98G=) c.*1364G= (n.*1364G=) c.1114G= (p.Glu372=) c.1450G= (p.Glu484=) c.1630G= (p.Glu544=) c.1297G= (p.Glu433=) n.221+1122C= | |
7 | g.117559611G>T | CA368984808 | CFTR,CFTR-AS1 | c.1540G>T (p.Glu514Ter) c.*1254G>T (n.*1254G>T) c.1357G>T (p.Glu453Ter) c.*98G>T (n.*98G>T) c.*1364G>T (n.*1364G>T) c.1114G>T (p.Glu372Ter) c.1450G>T (p.Glu484Ter) c.1630G>T (p.Glu544Ter) c.1297G>T (p.Glu433Ter) n.221+1122C>A | ClinVar dbSNP |
7 | g.117559614_117559626del | CA577218121 | CFTR,CFTR-AS1 | c.1543_1555del (p.Tyr515AlafsTer8) c.*1257_*1269del (n.*1257_*1269del) c.1360_1372del (p.Tyr454AlafsTer8) c.*101_*113del (n.*101_*113del) c.*1367_*1379del (n.*1367_*1379del) c.1117_1129del (p.Tyr373AlafsTer8) c.1453_1465del (p.Tyr485AlafsTer8) c.1633_1645del (p.Tyr545AlafsTer8) c.1300_1312del (p.Tyr434AlafsTer8) n.221+1110_221+1122del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559612A= | CA1737384768 | CFTR,CFTR-AS1 | c.1541A= (p.Glu514=) c.*1255A= (n.*1255A=) c.1358A= (p.Glu453=) c.*99A= (n.*99A=) c.*1365A= (n.*1365A=) c.1115A= (p.Glu372=) c.1451A= (p.Glu484=) c.1631A= (p.Glu544=) c.1298A= (p.Glu433=) n.221+1121T= | |
7 | g.117559612A>C | CA368984813 | CFTR,CFTR-AS1 | c.1541A>C (p.Glu514Ala) c.*1255A>C (n.*1255A>C) c.1358A>C (p.Glu453Ala) c.*99A>C (n.*99A>C) c.*1365A>C (n.*1365A>C) c.1115A>C (p.Glu372Ala) c.1451A>C (p.Glu484Ala) c.1631A>C (p.Glu544Ala) c.1298A>C (p.Glu433Ala) n.221+1121T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559612A>G | CA368984815 | CFTR,CFTR-AS1 | c.1541A>G (p.Glu514Gly) c.*1255A>G (n.*1255A>G) c.1358A>G (p.Glu453Gly) c.*99A>G (n.*99A>G) c.*1365A>G (n.*1365A>G) c.1115A>G (p.Glu372Gly) c.1451A>G (p.Glu484Gly) c.1631A>G (p.Glu544Gly) c.1298A>G (p.Glu433Gly) n.221+1121T>C | ClinVar |
7 | g.117559612A>T | CA368984816 | CFTR,CFTR-AS1 | c.1541A>T (p.Glu514Val) c.*1255A>T (n.*1255A>T) c.1358A>T (p.Glu453Val) c.*99A>T (n.*99A>T) c.*1365A>T (n.*1365A>T) c.1115A>T (p.Glu372Val) c.1451A>T (p.Glu484Val) c.1631A>T (p.Glu544Val) c.1298A>T (p.Glu433Val) n.221+1121T>A | |
7 | g.117559612_117559614delinsAAT | CA1737384767 | CFTR,CFTR-AS1 | c.1541_1543delinsAAT (p.Glu514=) c.*1255_*1257delinsAAT (n.*1255_*1257delinsAAT) c.1358_1360delinsAAT (p.Glu453=) c.*99_*101delinsAAT (n.*99_*101delinsAAT) c.*1365_*1367delinsAAT (n.*1365_*1367delinsAAT) c.1115_1117delinsAAT (p.Glu372=) c.1451_1453delinsAAT (p.Glu484=) c.1631_1633delinsAAT (p.Glu544=) c.1298_1300delinsAAT (p.Glu433=) n.221+1119_221+1121delinsATT | |
7 | g.117559613A= | CA1737384779 | CFTR,CFTR-AS1 | c.1542A= (p.Glu514=) c.*1256A= (n.*1256A=) c.1359A= (p.Glu453=) c.*100A= (n.*100A=) c.*1366A= (n.*1366A=) c.1116A= (p.Glu372=) c.1452A= (p.Glu484=) c.1632A= (p.Glu544=) c.1299A= (p.Glu433=) n.221+1120T= | |
7 | g.117559613A>C | CA164967800 | CFTR,CFTR-AS1 | c.1542A>C (p.Glu514Asp) c.*1256A>C (n.*1256A>C) c.1359A>C (p.Glu453Asp) c.*100A>C (n.*100A>C) c.*1366A>C (n.*1366A>C) c.1116A>C (p.Glu372Asp) c.1452A>C (p.Glu484Asp) c.1632A>C (p.Glu544Asp) c.1299A>C (p.Glu433Asp) n.221+1120T>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559613A>G | CA457228881 | CFTR,CFTR-AS1 | c.1542A>G (p.Glu514=) c.*1256A>G (n.*1256A>G) c.1359A>G (p.Glu453=) c.*100A>G (n.*100A>G) c.*1366A>G (n.*1366A>G) c.1116A>G (p.Glu372=) c.1452A>G (p.Glu484=) c.1632A>G (p.Glu544=) c.1299A>G (p.Glu433=) n.221+1120T>C | ClinVar gnomAD v4 |
7 | g.117559613A>T | CA368984820 | CFTR,CFTR-AS1 | c.1542A>T (p.Glu514Asp) c.*1256A>T (n.*1256A>T) c.1359A>T (p.Glu453Asp) c.*100A>T (n.*100A>T) c.*1366A>T (n.*1366A>T) c.1116A>T (p.Glu372Asp) c.1452A>T (p.Glu484Asp) c.1632A>T (p.Glu544Asp) c.1299A>T (p.Glu433Asp) n.221+1120T>A | |
7 | g.117559616_117559617del | CA325535 | CFTR,CFTR-AS1 | c.1545_1546del (p.Tyr515Ter) c.*1259_*1260del (n.*1259_*1260del) c.1362_1363del (p.Tyr454Ter) c.*103_*104del (n.*103_*104del) c.*1369_*1370del (n.*1369_*1370del) c.1119_1120del (p.Tyr373Ter) c.1455_1456del (p.Tyr485Ter) c.1635_1636del (p.Tyr545Ter) c.1302_1303del (p.Tyr434Ter) n.221+1119_221+1120del | ClinVar dbSNP gnomAD v4 |
7 | g.117559614T>A | CA368984826 | CFTR,CFTR-AS1 | c.1543T>A (p.Tyr515Asn) c.*1257T>A (n.*1257T>A) c.1360T>A (p.Tyr454Asn) c.*101T>A (n.*101T>A) c.*1367T>A (n.*1367T>A) c.1117T>A (p.Tyr373Asn) c.1453T>A (p.Tyr485Asn) c.1633T>A (p.Tyr545Asn) c.1300T>A (p.Tyr434Asn) n.221+1119A>T | |
7 | g.117559614T>C | CA4451019 | CFTR,CFTR-AS1 | c.1543T>C (p.Tyr515His) c.*1257T>C (n.*1257T>C) c.1360T>C (p.Tyr454His) c.*101T>C (n.*101T>C) c.*1367T>C (n.*1367T>C) c.1117T>C (p.Tyr373His) c.1453T>C (p.Tyr485His) c.1633T>C (p.Tyr545His) c.1300T>C (p.Tyr434His) n.221+1119A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559614T>G | CA368984829 | CFTR,CFTR-AS1 | c.1543T>G (p.Tyr515Asp) c.*1257T>G (n.*1257T>G) c.1360T>G (p.Tyr454Asp) c.*101T>G (n.*101T>G) c.*1367T>G (n.*1367T>G) c.1117T>G (p.Tyr373Asp) c.1453T>G (p.Tyr485Asp) c.1633T>G (p.Tyr545Asp) c.1300T>G (p.Tyr434Asp) n.221+1119A>C | ClinVar |
7 | g.117559614T= | CA1737384784 | CFTR,CFTR-AS1 | c.1543T= (p.Tyr515=) c.*1257T= (n.*1257T=) c.1360T= (p.Tyr454=) c.*101T= (n.*101T=) c.*1367T= (n.*1367T=) c.1117T= (p.Tyr373=) c.1453T= (p.Tyr485=) c.1633T= (p.Tyr545=) c.1300T= (p.Tyr434=) n.221+1119A= | |
7 | g.117559615A= | CA1737384789 | CFTR,CFTR-AS1 | c.1544A= (p.Tyr515=) c.*1258A= (n.*1258A=) c.1361A= (p.Tyr454=) c.*102A= (n.*102A=) c.*1368A= (n.*1368A=) c.1118A= (p.Tyr373=) c.1454A= (p.Tyr485=) c.1634A= (p.Tyr545=) c.1301A= (p.Tyr434=) n.221+1118T= | |
7 | g.117559615A>C | CA368984831 | CFTR,CFTR-AS1 | c.1544A>C (p.Tyr515Ser) c.*1258A>C (n.*1258A>C) c.1361A>C (p.Tyr454Ser) c.*102A>C (n.*102A>C) c.*1368A>C (n.*1368A>C) c.1118A>C (p.Tyr373Ser) c.1454A>C (p.Tyr485Ser) c.1634A>C (p.Tyr545Ser) c.1301A>C (p.Tyr434Ser) n.221+1118T>G | |
7 | g.117559615A>G | CA368984834 | CFTR,CFTR-AS1 | c.1544A>G (p.Tyr515Cys) c.*1258A>G (n.*1258A>G) c.1361A>G (p.Tyr454Cys) c.*102A>G (n.*102A>G) c.*1368A>G (n.*1368A>G) c.1118A>G (p.Tyr373Cys) c.1454A>G (p.Tyr485Cys) c.1634A>G (p.Tyr545Cys) c.1301A>G (p.Tyr434Cys) n.221+1118T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559615A>T | CA368984837 | CFTR,CFTR-AS1 | c.1544A>T (p.Tyr515Phe) c.*1258A>T (n.*1258A>T) c.1361A>T (p.Tyr454Phe) c.*102A>T (n.*102A>T) c.*1368A>T (n.*1368A>T) c.1118A>T (p.Tyr373Phe) c.1454A>T (p.Tyr485Phe) c.1634A>T (p.Tyr545Phe) c.1301A>T (p.Tyr434Phe) n.221+1118T>A | |
7 | g.117559618_117559621del | CA2580076322 | CFTR,CFTR-AS1 | c.1547_1550del (p.Arg516ThrfsTer10) c.*1261_*1264del (n.*1261_*1264del) c.1364_1367del (p.Arg455ThrfsTer10) c.*105_*108del (n.*105_*108del) c.*1371_*1374del (n.*1371_*1374del) c.1121_1124del (p.Arg374ThrfsTer10) c.1457_1460del (p.Arg486ThrfsTer10) c.1637_1640del (p.Arg546ThrfsTer10) c.1304_1307del (p.Arg435ThrfsTer10) n.221+1115_221+1118del | ClinVar |
7 | g.117559616T>A | CA368984844 | CFTR,CFTR-AS1 | c.1545T>A (p.Tyr515Ter) c.*1259T>A (n.*1259T>A) c.1362T>A (p.Tyr454Ter) c.*103T>A (n.*103T>A) c.*1369T>A (n.*1369T>A) c.1119T>A (p.Tyr373Ter) c.1455T>A (p.Tyr485Ter) c.1635T>A (p.Tyr545Ter) c.1302T>A (p.Tyr434Ter) n.221+1117A>T | |
7 | g.117559616T>C | CA4451020 | CFTR,CFTR-AS1 | c.1545T>C (p.Tyr515=) c.*1259T>C (n.*1259T>C) c.1362T>C (p.Tyr454=) c.*103T>C (n.*103T>C) c.*1369T>C (n.*1369T>C) c.1119T>C (p.Tyr373=) c.1455T>C (p.Tyr485=) c.1635T>C (p.Tyr545=) c.1302T>C (p.Tyr434=) n.221+1117A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559616T>G | CA368984841 | CFTR,CFTR-AS1 | c.1545T>G (p.Tyr515Ter) c.*1259T>G (n.*1259T>G) c.1362T>G (p.Tyr454Ter) c.*103T>G (n.*103T>G) c.*1369T>G (n.*1369T>G) c.1119T>G (p.Tyr373Ter) c.1455T>G (p.Tyr485Ter) c.1635T>G (p.Tyr545Ter) c.1302T>G (p.Tyr434Ter) n.221+1117A>C | |
7 | g.117559616T= | CA1737384797 | CFTR,CFTR-AS1 | c.1545T= (p.Tyr515=) c.*1259T= (n.*1259T=) c.1362T= (p.Tyr454=) c.*103T= (n.*103T=) c.*1369T= (n.*1369T=) c.1119T= (p.Tyr373=) c.1455T= (p.Tyr485=) c.1635T= (p.Tyr545=) c.1302T= (p.Tyr434=) n.221+1117A= | |
7 | g.117559616_117559619delinsTAGA | CA1737384801 | CFTR,CFTR-AS1 | c.1545_1548delinsTAGA (p.Tyr515=) c.*1259_*1262delinsTAGA (n.*1259_*1262delinsTAGA) c.1362_1365delinsTAGA (p.Tyr454=) c.*103_*106delinsTAGA (n.*103_*106delinsTAGA) c.*1369_*1372delinsTAGA (n.*1369_*1372delinsTAGA) c.1119_1122delinsTAGA (p.Tyr373=) c.1455_1458delinsTAGA (p.Tyr485=) c.1635_1638delinsTAGA (p.Tyr545=) c.1302_1305delinsTAGA (p.Tyr434=) n.221+1114_221+1117delinsTCTA | |
7 | g.117559617A= | CA1737384814 | CFTR,CFTR-AS1 | c.1546A= (p.Arg516=) c.*1260A= (n.*1260A=) c.1363A= (p.Arg455=) c.*104A= (n.*104A=) c.*1370A= (n.*1370A=) c.1120A= (p.Arg374=) c.1456A= (p.Arg486=) c.1636A= (p.Arg546=) c.1303A= (p.Arg435=) n.221+1116T= | |
7 | g.117559617A>C | CA457228882 | CFTR,CFTR-AS1 | c.1546A>C (p.Arg516=) c.*1260A>C (n.*1260A>C) c.1363A>C (p.Arg455=) c.*104A>C (n.*104A>C) c.*1370A>C (n.*1370A>C) c.1120A>C (p.Arg374=) c.1456A>C (p.Arg486=) c.1636A>C (p.Arg546=) c.1303A>C (p.Arg435=) n.221+1116T>G | |
7 | g.117559617A>G | CA326530 | CFTR,CFTR-AS1 | c.1546A>G (p.Arg516Gly) c.*1260A>G (n.*1260A>G) c.1363A>G (p.Arg455Gly) c.*104A>G (n.*104A>G) c.*1370A>G (n.*1370A>G) c.1120A>G (p.Arg374Gly) c.1456A>G (p.Arg486Gly) c.1636A>G (p.Arg546Gly) c.1303A>G (p.Arg435Gly) n.221+1116T>C | ClinVar dbSNP |
7 | g.117559617A>T | CA368984847 | CFTR,CFTR-AS1 | c.1546A>T (p.Arg516Ter) c.*1260A>T (n.*1260A>T) c.1363A>T (p.Arg455Ter) c.*104A>T (n.*104A>T) c.*1370A>T (n.*1370A>T) c.1120A>T (p.Arg374Ter) c.1456A>T (p.Arg486Ter) c.1636A>T (p.Arg546Ter) c.1303A>T (p.Arg435Ter) n.221+1116T>A | |
7 | g.117559617_117559619delinsT | CA1139660108 | CFTR,CFTR-AS1 | c.1546_1548delinsT (p.Arg516LeufsTer?) c.*1260_*1262delinsT (n.*1260_*1262delinsT) c.1363_1365delinsT (p.Arg455LeufsTer?) c.*104_*106delinsT (n.*104_*106delinsT) c.*1370_*1372delinsT (n.*1370_*1372delinsT) c.1120_1122delinsT (p.Arg374LeufsTer?) c.1456_1458delinsT (p.Arg486LeufsTer?) c.1636_1638delinsT (p.Arg546LeufsTer?) c.1303_1305delinsT (p.Arg435LeufsTer?) n.221+1114_221+1116delinsA | ClinVar dbSNP |
7 | g.117559618_117559619del | CA913190001 | CFTR,CFTR-AS1 | c.1547_1548del (p.Arg516IlefsTer?) c.*1261_*1262del (n.*1261_*1262del) c.1364_1365del (p.Arg455IlefsTer?) c.*105_*106del (n.*105_*106del) c.*1371_*1372del (n.*1371_*1372del) c.1121_1122del (p.Arg374IlefsTer?) c.1457_1458del (p.Arg486IlefsTer?) c.1637_1638del (p.Arg546IlefsTer?) c.1304_1305del (p.Arg435IlefsTer?) n.221+1115_221+1116del | ClinVar dbSNP |
7 | g.117559618G>A | CA368984849 | CFTR,CFTR-AS1 | c.1547G>A (p.Arg516Lys) c.*1261G>A (n.*1261G>A) c.1364G>A (p.Arg455Lys) c.*105G>A (n.*105G>A) c.*1371G>A (n.*1371G>A) c.1121G>A (p.Arg374Lys) c.1457G>A (p.Arg486Lys) c.1637G>A (p.Arg546Lys) c.1304G>A (p.Arg435Lys) n.221+1115C>T | |
7 | g.117559618G>C | CA368984850 | CFTR,CFTR-AS1 | c.1547G>C (p.Arg516Thr) c.*1261G>C (n.*1261G>C) c.1364G>C (p.Arg455Thr) c.*105G>C (n.*105G>C) c.*1371G>C (n.*1371G>C) c.1121G>C (p.Arg374Thr) c.1457G>C (p.Arg486Thr) c.1637G>C (p.Arg546Thr) c.1304G>C (p.Arg435Thr) n.221+1115C>G | |
7 | g.117559618G>T | CA368984852 | CFTR,CFTR-AS1 | c.1547G>T (p.Arg516Ile) c.*1261G>T (n.*1261G>T) c.1364G>T (p.Arg455Ile) c.*105G>T (n.*105G>T) c.*1371G>T (n.*1371G>T) c.1121G>T (p.Arg374Ile) c.1457G>T (p.Arg486Ile) c.1637G>T (p.Arg546Ile) c.1304G>T (p.Arg435Ile) n.221+1115C>A | ClinVar |
7 | g.117559619A>C | CA368984854 | CFTR,CFTR-AS1 | c.1548A>C (p.Arg516Ser) c.*1262A>C (n.*1262A>C) c.1365A>C (p.Arg455Ser) c.*106A>C (n.*106A>C) c.*1372A>C (n.*1372A>C) c.1122A>C (p.Arg374Ser) c.1458A>C (p.Arg486Ser) c.1638A>C (p.Arg546Ser) c.1305A>C (p.Arg435Ser) n.221+1114T>G | gnomAD v4 |
7 | g.117559619A>G | CA457228883 | CFTR,CFTR-AS1 | c.1548A>G (p.Arg516=) c.*1262A>G (n.*1262A>G) c.1365A>G (p.Arg455=) c.*106A>G (n.*106A>G) c.*1372A>G (n.*1372A>G) c.1122A>G (p.Arg374=) c.1458A>G (p.Arg486=) c.1638A>G (p.Arg546=) c.1305A>G (p.Arg435=) n.221+1114T>C | |
7 | g.117559619A>T | CA368984855 | CFTR,CFTR-AS1 | c.1548A>T (p.Arg516Ser) c.*1262A>T (n.*1262A>T) c.1365A>T (p.Arg455Ser) c.*106A>T (n.*106A>T) c.*1372A>T (n.*1372A>T) c.1122A>T (p.Arg374Ser) c.1458A>T (p.Arg486Ser) c.1638A>T (p.Arg546Ser) c.1305A>T (p.Arg435Ser) n.221+1114T>A | |
7 | g.117559620T>A | CA368984858 | CFTR,CFTR-AS1 | c.1549T>A (p.Tyr517Asn) c.*1263T>A (n.*1263T>A) c.1366T>A (p.Tyr456Asn) c.*107T>A (n.*107T>A) c.*1373T>A (n.*1373T>A) c.1123T>A (p.Tyr375Asn) c.1459T>A (p.Tyr487Asn) c.1639T>A (p.Tyr547Asn) c.1306T>A (p.Tyr436Asn) n.221+1113A>T | |
7 | g.117559620T>C | CA368984860 | CFTR,CFTR-AS1 | c.1549T>C (p.Tyr517His) c.*1263T>C (n.*1263T>C) c.1366T>C (p.Tyr456His) c.*107T>C (n.*107T>C) c.*1373T>C (n.*1373T>C) c.1123T>C (p.Tyr375His) c.1459T>C (p.Tyr487His) c.1639T>C (p.Tyr547His) c.1306T>C (p.Tyr436His) n.221+1113A>G | |
7 | g.117559620T>G | CA368984863 | CFTR,CFTR-AS1 | c.1549T>G (p.Tyr517Asp) c.*1263T>G (n.*1263T>G) c.1366T>G (p.Tyr456Asp) c.*107T>G (n.*107T>G) c.*1373T>G (n.*1373T>G) c.1123T>G (p.Tyr375Asp) c.1459T>G (p.Tyr487Asp) c.1639T>G (p.Tyr547Asp) c.1306T>G (p.Tyr436Asp) n.221+1113A>C | |
7 | g.117559621A= | CA1737384820 | CFTR,CFTR-AS1 | c.1550A= (p.Tyr517=) c.*1264A= (n.*1264A=) c.1367A= (p.Tyr456=) c.*108A= (n.*108A=) c.*1374A= (n.*1374A=) c.1124A= (p.Tyr375=) c.1460A= (p.Tyr487=) c.1640A= (p.Tyr547=) c.1307A= (p.Tyr436=) n.221+1112T= | |
7 | g.117559621A>C | CA368984865 | CFTR,CFTR-AS1 | c.1550A>C (p.Tyr517Ser) c.*1264A>C (n.*1264A>C) c.1367A>C (p.Tyr456Ser) c.*108A>C (n.*108A>C) c.*1374A>C (n.*1374A>C) c.1124A>C (p.Tyr375Ser) c.1460A>C (p.Tyr487Ser) c.1640A>C (p.Tyr547Ser) c.1307A>C (p.Tyr436Ser) n.221+1112T>G | ClinVar |
7 | g.117559621A>G | CA368984867 | CFTR,CFTR-AS1 | c.1550A>G (p.Tyr517Cys) c.*1264A>G (n.*1264A>G) c.1367A>G (p.Tyr456Cys) c.*108A>G (n.*108A>G) c.*1374A>G (n.*1374A>G) c.1124A>G (p.Tyr375Cys) c.1460A>G (p.Tyr487Cys) c.1640A>G (p.Tyr547Cys) c.1307A>G (p.Tyr436Cys) n.221+1112T>C | ClinVar dbSNP |
7 | g.117559621A>T | CA368984869 | CFTR,CFTR-AS1 | c.1550A>T (p.Tyr517Phe) c.*1264A>T (n.*1264A>T) c.1367A>T (p.Tyr456Phe) c.*108A>T (n.*108A>T) c.*1374A>T (n.*1374A>T) c.1124A>T (p.Tyr375Phe) c.1460A>T (p.Tyr487Phe) c.1640A>T (p.Tyr547Phe) c.1307A>T (p.Tyr436Phe) n.221+1112T>A | |
7 | g.117559622C>A | CA368984871 | CFTR,CFTR-AS1 | c.1551C>A (p.Tyr517Ter) c.*1265C>A (n.*1265C>A) c.1368C>A (p.Tyr456Ter) c.*109C>A (n.*109C>A) c.*1375C>A (n.*1375C>A) c.1125C>A (p.Tyr375Ter) c.1461C>A (p.Tyr487Ter) c.1641C>A (p.Tyr547Ter) c.1308C>A (p.Tyr436Ter) n.221+1111G>T | |
7 | g.117559622C>G | CA368984878 | CFTR,CFTR-AS1 | c.1551C>G (p.Tyr517Ter) c.*1265C>G (n.*1265C>G) c.1368C>G (p.Tyr456Ter) c.*109C>G (n.*109C>G) c.*1375C>G (n.*1375C>G) c.1125C>G (p.Tyr375Ter) c.1461C>G (p.Tyr487Ter) c.1641C>G (p.Tyr547Ter) c.1308C>G (p.Tyr436Ter) n.221+1111G>C | ClinVar dbSNP |
7 | g.117559622C>T | CA457228884 | CFTR,CFTR-AS1 | c.1551C>T (p.Tyr517=) c.*1265C>T (n.*1265C>T) c.1368C>T (p.Tyr456=) c.*109C>T (n.*109C>T) c.*1375C>T (n.*1375C>T) c.1125C>T (p.Tyr375=) c.1461C>T (p.Tyr487=) c.1641C>T (p.Tyr547=) c.1308C>T (p.Tyr436=) n.221+1111G>A | ClinVar |
7 | g.117559623A= | CA1737384829 | CFTR,CFTR-AS1 | c.1552A= (p.Arg518=) c.*1266A= (n.*1266A=) c.1369A= (p.Arg457=) c.*110A= (n.*110A=) c.*1376A= (n.*1376A=) c.1126A= (p.Arg376=) c.1462A= (p.Arg488=) c.1642A= (p.Arg548=) c.1309A= (p.Arg437=) n.221+1110T= | |
7 | g.117559623A>C | CA457228886 | CFTR,CFTR-AS1 | c.1552A>C (p.Arg518=) c.*1266A>C (n.*1266A>C) c.1369A>C (p.Arg457=) c.*110A>C (n.*110A>C) c.*1376A>C (n.*1376A>C) c.1126A>C (p.Arg376=) c.1462A>C (p.Arg488=) c.1642A>C (p.Arg548=) c.1309A>C (p.Arg437=) n.221+1110T>G | |
7 | g.117559623A>G | CA368984882 | CFTR,CFTR-AS1 | c.1552A>G (p.Arg518Gly) c.*1266A>G (n.*1266A>G) c.1369A>G (p.Arg457Gly) c.*110A>G (n.*110A>G) c.*1376A>G (n.*1376A>G) c.1126A>G (p.Arg376Gly) c.1462A>G (p.Arg488Gly) c.1642A>G (p.Arg548Gly) c.1309A>G (p.Arg437Gly) n.221+1110T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559623A>T | CA368984884 | CFTR,CFTR-AS1 | c.1552A>T (p.Arg518Ter) c.*1266A>T (n.*1266A>T) c.1369A>T (p.Arg457Ter) c.*110A>T (n.*110A>T) c.*1376A>T (n.*1376A>T) c.1126A>T (p.Arg376Ter) c.1462A>T (p.Arg488Ter) c.1642A>T (p.Arg548Ter) c.1309A>T (p.Arg437Ter) n.221+1110T>A | |
7 | g.117559624G>A | CA368984886 | CFTR,CFTR-AS1 | c.1553G>A (p.Arg518Lys) c.*1267G>A (n.*1267G>A) c.1370G>A (p.Arg457Lys) c.*111G>A (n.*111G>A) c.*1377G>A (n.*1377G>A) c.1127G>A (p.Arg376Lys) c.1463G>A (p.Arg488Lys) c.1643G>A (p.Arg548Lys) c.1310G>A (p.Arg437Lys) n.221+1109C>T | |
7 | g.117559624G>C | CA368984890 | CFTR,CFTR-AS1 | c.1553G>C (p.Arg518Thr) c.*1267G>C (n.*1267G>C) c.1370G>C (p.Arg457Thr) c.*111G>C (n.*111G>C) c.*1377G>C (n.*1377G>C) c.1127G>C (p.Arg376Thr) c.1463G>C (p.Arg488Thr) c.1643G>C (p.Arg548Thr) c.1310G>C (p.Arg437Thr) n.221+1109C>G | |
7 | g.117559624G>T | CA368984888 | CFTR,CFTR-AS1 | c.1553G>T (p.Arg518Ile) c.*1267G>T (n.*1267G>T) c.1370G>T (p.Arg457Ile) c.*111G>T (n.*111G>T) c.*1377G>T (n.*1377G>T) c.1127G>T (p.Arg376Ile) c.1463G>T (p.Arg488Ile) c.1643G>T (p.Arg548Ile) c.1310G>T (p.Arg437Ile) n.221+1109C>A | |
7 | g.117559625A>C | CA368984892 | CFTR,CFTR-AS1 | c.1554A>C (p.Arg518Ser) c.*1268A>C (n.*1268A>C) c.1371A>C (p.Arg457Ser) c.*112A>C (n.*112A>C) c.*1378A>C (n.*1378A>C) c.1128A>C (p.Arg376Ser) c.1464A>C (p.Arg488Ser) c.1644A>C (p.Arg548Ser) c.1311A>C (p.Arg437Ser) n.221+1108T>G | |
7 | g.117559625A>G | CA457228887 | CFTR,CFTR-AS1 | c.1554A>G (p.Arg518=) c.*1268A>G (n.*1268A>G) c.1371A>G (p.Arg457=) c.*112A>G (n.*112A>G) c.*1378A>G (n.*1378A>G) c.1128A>G (p.Arg376=) c.1464A>G (p.Arg488=) c.1644A>G (p.Arg548=) c.1311A>G (p.Arg437=) n.221+1108T>C | |
7 | g.117559625A>T | CA368984893 | CFTR,CFTR-AS1 | c.1554A>T (p.Arg518Ser) c.*1268A>T (n.*1268A>T) c.1371A>T (p.Arg457Ser) c.*112A>T (n.*112A>T) c.*1378A>T (n.*1378A>T) c.1128A>T (p.Arg376Ser) c.1464A>T (p.Arg488Ser) c.1644A>T (p.Arg548Ser) c.1311A>T (p.Arg437Ser) n.221+1108T>A | |
7 | g.117559626A= | CA1737384833 | CFTR,CFTR-AS1 | c.1555A= (p.Ser519=) c.*1269A= (n.*1269A=) c.1372A= (p.Ser458=) c.*113A= (n.*113A=) c.*1379A= (n.*1379A=) c.1129A= (p.Ser377=) c.1465A= (p.Ser489=) c.1645A= (p.Ser549=) c.1312A= (p.Ser438=) n.221+1107T= | |
7 | g.117559626A>C | CA368984894 | CFTR,CFTR-AS1 | c.1555A>C (p.Ser519Arg) c.*1269A>C (n.*1269A>C) c.1372A>C (p.Ser458Arg) c.*113A>C (n.*113A>C) c.*1379A>C (n.*1379A>C) c.1129A>C (p.Ser377Arg) c.1465A>C (p.Ser489Arg) c.1645A>C (p.Ser549Arg) c.1312A>C (p.Ser438Arg) n.221+1107T>G | gnomAD v4 |
7 | g.117559626A>G | CA368984895 | CFTR,CFTR-AS1 | c.1555A>G (p.Ser519Gly) c.*1269A>G (n.*1269A>G) c.1372A>G (p.Ser458Gly) c.*113A>G (n.*113A>G) c.*1379A>G (n.*1379A>G) c.1129A>G (p.Ser377Gly) c.1465A>G (p.Ser489Gly) c.1645A>G (p.Ser549Gly) c.1312A>G (p.Ser438Gly) n.221+1107T>C | dbSNP gnomAD v4 |
7 | g.117559626A>T | CA368984896 | CFTR,CFTR-AS1 | c.1555A>T (p.Ser519Cys) c.*1269A>T (n.*1269A>T) c.1372A>T (p.Ser458Cys) c.*113A>T (n.*113A>T) c.*1379A>T (n.*1379A>T) c.1129A>T (p.Ser377Cys) c.1465A>T (p.Ser489Cys) c.1645A>T (p.Ser549Cys) c.1312A>T (p.Ser438Cys) n.221+1107T>A | |
7 | g.117559627G>A | CA368984897 | CFTR,CFTR-AS1 | c.1556G>A (p.Ser519Asn) c.*1270G>A (n.*1270G>A) c.1373G>A (p.Ser458Asn) c.*114G>A (n.*114G>A) c.*1380G>A (n.*1380G>A) c.1130G>A (p.Ser377Asn) c.1466G>A (p.Ser489Asn) c.1646G>A (p.Ser549Asn) c.1313G>A (p.Ser438Asn) n.221+1106C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559627G>C | CA368984898 | CFTR,CFTR-AS1 | c.1556G>C (p.Ser519Thr) c.*1270G>C (n.*1270G>C) c.1373G>C (p.Ser458Thr) c.*114G>C (n.*114G>C) c.*1380G>C (n.*1380G>C) c.1130G>C (p.Ser377Thr) c.1466G>C (p.Ser489Thr) c.1646G>C (p.Ser549Thr) c.1313G>C (p.Ser438Thr) n.221+1106C>G | |
7 | g.117559627G= | CA1737384837 | CFTR,CFTR-AS1 | c.1556G= (p.Ser519=) c.*1270G= (n.*1270G=) c.1373G= (p.Ser458=) c.*114G= (n.*114G=) c.*1380G= (n.*1380G=) c.1130G= (p.Ser377=) c.1466G= (p.Ser489=) c.1646G= (p.Ser549=) c.1313G= (p.Ser438=) n.221+1106C= | |
7 | g.117559627G>T | CA368984899 | CFTR,CFTR-AS1 | c.1556G>T (p.Ser519Ile) c.*1270G>T (n.*1270G>T) c.1373G>T (p.Ser458Ile) c.*114G>T (n.*114G>T) c.*1380G>T (n.*1380G>T) c.1130G>T (p.Ser377Ile) c.1466G>T (p.Ser489Ile) c.1646G>T (p.Ser549Ile) c.1313G>T (p.Ser438Ile) n.221+1106C>A | |
7 | g.117559628C>A | CA368984901 | CFTR,CFTR-AS1 | c.1557C>A (p.Ser519Arg) c.*1271C>A (n.*1271C>A) c.1374C>A (p.Ser458Arg) c.*115C>A (n.*115C>A) c.*1381C>A (n.*1381C>A) c.1131C>A (p.Ser377Arg) c.1467C>A (p.Ser489Arg) c.1647C>A (p.Ser549Arg) c.1314C>A (p.Ser438Arg) n.221+1105G>T | |
7 | g.117559628C= | CA1737384842 | CFTR,CFTR-AS1 | c.1557C= (p.Ser519=) c.*1271C= (n.*1271C=) c.1374C= (p.Ser458=) c.*115C= (n.*115C=) c.*1381C= (n.*1381C=) c.1131C= (p.Ser377=) c.1467C= (p.Ser489=) c.1647C= (p.Ser549=) c.1314C= (p.Ser438=) n.221+1105G= | |
7 | g.117559628C>G | CA368984903 | CFTR,CFTR-AS1 | c.1557C>G (p.Ser519Arg) c.*1271C>G (n.*1271C>G) c.1374C>G (p.Ser458Arg) c.*115C>G (n.*115C>G) c.*1381C>G (n.*1381C>G) c.1131C>G (p.Ser377Arg) c.1467C>G (p.Ser489Arg) c.1647C>G (p.Ser549Arg) c.1314C>G (p.Ser438Arg) n.221+1105G>C | ClinVar |
7 | g.117559628C>T | CA4451021 | CFTR,CFTR-AS1 | c.1557C>T (p.Ser519=) c.*1271C>T (n.*1271C>T) c.1374C>T (p.Ser458=) c.*115C>T (n.*115C>T) c.*1381C>T (n.*1381C>T) c.1131C>T (p.Ser377=) c.1467C>T (p.Ser489=) c.1647C>T (p.Ser549=) c.1314C>T (p.Ser438=) n.221+1105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117559629G>A | CA221008 | CFTR,CFTR-AS1 | c.1558G>A (p.Val520Ile) c.*1272G>A (n.*1272G>A) c.1375G>A (p.Val459Ile) c.*116G>A (n.*116G>A) c.*1382G>A (n.*1382G>A) c.1132G>A (p.Val378Ile) c.1468G>A (p.Val490Ile) c.1648G>A (p.Val550Ile) c.1315G>A (p.Val439Ile) n.221+1104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117559629G>C | CA164967824 | CFTR,CFTR-AS1 | c.1558G>C (p.Val520Leu) c.*1272G>C (n.*1272G>C) c.1375G>C (p.Val459Leu) c.*116G>C (n.*116G>C) c.*1382G>C (n.*1382G>C) c.1132G>C (p.Val378Leu) c.1468G>C (p.Val490Leu) c.1648G>C (p.Val550Leu) c.1315G>C (p.Val439Leu) n.221+1104C>G | |
7 | g.117559629G= | CA1737384849 | CFTR,CFTR-AS1 | c.1558G= (p.Val520=) c.*1272G= (n.*1272G=) c.1375G= (p.Val459=) c.*116G= (n.*116G=) c.*1382G= (n.*1382G=) c.1132G= (p.Val378=) c.1468G= (p.Val490=) c.1648G= (p.Val550=) c.1315G= (p.Val439=) n.221+1104C= | |
7 | g.117559629G>T | CA325545 | CFTR,CFTR-AS1 | c.1558G>T (p.Val520Phe) c.*1272G>T (n.*1272G>T) c.1375G>T (p.Val459Phe) c.*116G>T (n.*116G>T) c.*1382G>T (n.*1382G>T) c.1132G>T (p.Val378Phe) c.1468G>T (p.Val490Phe) c.1648G>T (p.Val550Phe) c.1315G>T (p.Val439Phe) n.221+1104C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559630T>A | CA368984911 | CFTR,CFTR-AS1 | c.1559T>A (p.Val520Asp) c.*1273T>A (n.*1273T>A) c.1376T>A (p.Val459Asp) c.*117T>A (n.*117T>A) c.*1383T>A (n.*1383T>A) c.1133T>A (p.Val378Asp) c.1469T>A (p.Val490Asp) c.1649T>A (p.Val550Asp) c.1316T>A (p.Val439Asp) n.221+1103A>T | ClinVar dbSNP |
7 | g.117559630T>C | CA368984912 | CFTR,CFTR-AS1 | c.1559T>C (p.Val520Ala) c.*1273T>C (n.*1273T>C) c.1376T>C (p.Val459Ala) c.*117T>C (n.*117T>C) c.*1383T>C (n.*1383T>C) c.1133T>C (p.Val378Ala) c.1469T>C (p.Val490Ala) c.1649T>C (p.Val550Ala) c.1316T>C (p.Val439Ala) n.221+1103A>G | |
7 | g.117559630T>G | CA368984915 | CFTR,CFTR-AS1 | c.1559T>G (p.Val520Gly) c.*1273T>G (n.*1273T>G) c.1376T>G (p.Val459Gly) c.*117T>G (n.*117T>G) c.*1383T>G (n.*1383T>G) c.1133T>G (p.Val378Gly) c.1469T>G (p.Val490Gly) c.1649T>G (p.Val550Gly) c.1316T>G (p.Val439Gly) n.221+1103A>C | |
7 | g.117559630T= | CA1737384853 | CFTR,CFTR-AS1 | c.1559T= (p.Val520=) c.*1273T= (n.*1273T=) c.1376T= (p.Val459=) c.*117T= (n.*117T=) c.*1383T= (n.*1383T=) c.1133T= (p.Val378=) c.1469T= (p.Val490=) c.1649T= (p.Val550=) c.1316T= (p.Val439=) n.221+1103A= | |
7 | g.117559631C>A | CA457228889 | CFTR,CFTR-AS1 | c.1560C>A (p.Val520=) c.*1274C>A (n.*1274C>A) c.1377C>A (p.Val459=) c.*118C>A (n.*118C>A) c.*1384C>A (n.*1384C>A) c.1134C>A (p.Val378=) c.1470C>A (p.Val490=) c.1650C>A (p.Val550=) c.1317C>A (p.Val439=) n.221+1102G>T | |
7 | g.117559631C= | CA1737384859 | CFTR,CFTR-AS1 | c.1560C= (p.Val520=) c.*1274C= (n.*1274C=) c.1377C= (p.Val459=) c.*118C= (n.*118C=) c.*1384C= (n.*1384C=) c.1134C= (p.Val378=) c.1470C= (p.Val490=) c.1650C= (p.Val550=) c.1317C= (p.Val439=) n.221+1102G= | |
7 | g.117559631C>G | CA457228890 | CFTR,CFTR-AS1 | c.1560C>G (p.Val520=) c.*1274C>G (n.*1274C>G) c.1377C>G (p.Val459=) c.*118C>G (n.*118C>G) c.*1384C>G (n.*1384C>G) c.1134C>G (p.Val378=) c.1470C>G (p.Val490=) c.1650C>G (p.Val550=) c.1317C>G (p.Val439=) n.221+1102G>C | |
7 | g.117559631C>T | CA4451022 | CFTR,CFTR-AS1 | c.1560C>T (p.Val520=) c.*1274C>T (n.*1274C>T) c.1377C>T (p.Val459=) c.*118C>T (n.*118C>T) c.*1384C>T (n.*1384C>T) c.1134C>T (p.Val378=) c.1470C>T (p.Val490=) c.1650C>T (p.Val550=) c.1317C>T (p.Val439=) n.221+1102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559632A= | CA1737384866 | CFTR,CFTR-AS1 | c.1561A= (p.Ile521=) c.*1275A= (n.*1275A=) c.1378A= (p.Ile460=) c.*119A= (n.*119A=) c.*1385A= (n.*1385A=) c.1135A= (p.Ile379=) c.1471A= (p.Ile491=) c.1651A= (p.Ile551=) c.1318A= (p.Ile440=) n.221+1101T= | |
7 | g.117559632A>C | CA368984920 | CFTR,CFTR-AS1 | c.1561A>C (p.Ile521Leu) c.*1275A>C (n.*1275A>C) c.1378A>C (p.Ile460Leu) c.*119A>C (n.*119A>C) c.*1385A>C (n.*1385A>C) c.1135A>C (p.Ile379Leu) c.1471A>C (p.Ile491Leu) c.1651A>C (p.Ile551Leu) c.1318A>C (p.Ile440Leu) n.221+1101T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559632A>G | CA368984923 | CFTR,CFTR-AS1 | c.1561A>G (p.Ile521Val) c.*1275A>G (n.*1275A>G) c.1378A>G (p.Ile460Val) c.*119A>G (n.*119A>G) c.*1385A>G (n.*1385A>G) c.1135A>G (p.Ile379Val) c.1471A>G (p.Ile491Val) c.1651A>G (p.Ile551Val) c.1318A>G (p.Ile440Val) n.221+1101T>C | dbSNP gnomAD v4 |
7 | g.117559632A>T | CA368984924 | CFTR,CFTR-AS1 | c.1561A>T (p.Ile521Phe) c.*1275A>T (n.*1275A>T) c.1378A>T (p.Ile460Phe) c.*119A>T (n.*119A>T) c.*1385A>T (n.*1385A>T) c.1135A>T (p.Ile379Phe) c.1471A>T (p.Ile491Phe) c.1651A>T (p.Ile551Phe) c.1318A>T (p.Ile440Phe) n.221+1101T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559633T>A | CA368984926 | CFTR,CFTR-AS1 | c.1562T>A (p.Ile521Asn) c.*1276T>A (n.*1276T>A) c.1379T>A (p.Ile460Asn) c.*120T>A (n.*120T>A) c.*1386T>A (n.*1386T>A) c.1136T>A (p.Ile379Asn) c.1472T>A (p.Ile491Asn) c.1652T>A (p.Ile551Asn) c.1319T>A (p.Ile440Asn) n.221+1100A>T | |
7 | g.117559633T>C | CA368984928 | CFTR,CFTR-AS1 | c.1562T>C (p.Ile521Thr) c.*1276T>C (n.*1276T>C) c.1379T>C (p.Ile460Thr) c.*120T>C (n.*120T>C) c.*1386T>C (n.*1386T>C) c.1136T>C (p.Ile379Thr) c.1472T>C (p.Ile491Thr) c.1652T>C (p.Ile551Thr) c.1319T>C (p.Ile440Thr) n.221+1100A>G | |
7 | g.117559633T>G | CA368984930 | CFTR,CFTR-AS1 | c.1562T>G (p.Ile521Ser) c.*1276T>G (n.*1276T>G) c.1379T>G (p.Ile460Ser) c.*120T>G (n.*120T>G) c.*1386T>G (n.*1386T>G) c.1136T>G (p.Ile379Ser) c.1472T>G (p.Ile491Ser) c.1652T>G (p.Ile551Ser) c.1319T>G (p.Ile440Ser) n.221+1100A>C | |
7 | g.117559634C>A | CA457228896 | CFTR,CFTR-AS1 | c.1563C>A (p.Ile521=) c.*1277C>A (n.*1277C>A) c.1380C>A (p.Ile460=) c.*121C>A (n.*121C>A) c.*1387C>A (n.*1387C>A) c.1137C>A (p.Ile379=) c.1473C>A (p.Ile491=) c.1653C>A (p.Ile551=) c.1320C>A (p.Ile440=) n.221+1099G>T | |
7 | g.117559634C= | CA1737384868 | CFTR,CFTR-AS1 | c.1563C= (p.Ile521=) c.*1277C= (n.*1277C=) c.1380C= (p.Ile460=) c.*121C= (n.*121C=) c.*1387C= (n.*1387C=) c.1137C= (p.Ile379=) c.1473C= (p.Ile491=) c.1653C= (p.Ile551=) c.1320C= (p.Ile440=) n.221+1099G= | |
7 | g.117559634C>G | CA4451023 | CFTR,CFTR-AS1 | c.1563C>G (p.Ile521Met) c.*1277C>G (n.*1277C>G) c.1380C>G (p.Ile460Met) c.*121C>G (n.*121C>G) c.*1387C>G (n.*1387C>G) c.1137C>G (p.Ile379Met) c.1473C>G (p.Ile491Met) c.1653C>G (p.Ile551Met) c.1320C>G (p.Ile440Met) n.221+1099G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559634C>T | CA457228898 | CFTR,CFTR-AS1 | c.1563C>T (p.Ile521=) c.*1277C>T (n.*1277C>T) c.1380C>T (p.Ile460=) c.*121C>T (n.*121C>T) c.*1387C>T (n.*1387C>T) c.1137C>T (p.Ile379=) c.1473C>T (p.Ile491=) c.1653C>T (p.Ile551=) c.1320C>T (p.Ile440=) n.221+1099G>A | |
7 | g.117559635A= | CA1737384870 | CFTR,CFTR-AS1 | c.1564A= (p.Lys522=) c.*1278A= (n.*1278A=) c.1381A= (p.Lys461=) c.*122A= (n.*122A=) c.*1388A= (n.*1388A=) c.1138A= (p.Lys380=) c.1474A= (p.Lys492=) c.1654A= (p.Lys552=) c.1321A= (p.Lys441=) n.221+1098T= | |
7 | g.117559635A>C | CA368984942 | CFTR,CFTR-AS1 | c.1564A>C (p.Lys522Gln) c.*1278A>C (n.*1278A>C) c.1381A>C (p.Lys461Gln) c.*122A>C (n.*122A>C) c.*1388A>C (n.*1388A>C) c.1138A>C (p.Lys380Gln) c.1474A>C (p.Lys492Gln) c.1654A>C (p.Lys552Gln) c.1321A>C (p.Lys441Gln) n.221+1098T>G | |
7 | g.117559635A>G | CA368984938 | CFTR,CFTR-AS1 | c.1564A>G (p.Lys522Glu) c.*1278A>G (n.*1278A>G) c.1381A>G (p.Lys461Glu) c.*122A>G (n.*122A>G) c.*1388A>G (n.*1388A>G) c.1138A>G (p.Lys380Glu) c.1474A>G (p.Lys492Glu) c.1654A>G (p.Lys552Glu) c.1321A>G (p.Lys441Glu) n.221+1098T>C | ClinVar dbSNP |
7 | g.117559635A>T | CA368984935 | CFTR,CFTR-AS1 | c.1564A>T (p.Lys522Ter) c.*1278A>T (n.*1278A>T) c.1381A>T (p.Lys461Ter) c.*122A>T (n.*122A>T) c.*1388A>T (n.*1388A>T) c.1138A>T (p.Lys380Ter) c.1474A>T (p.Lys492Ter) c.1654A>T (p.Lys552Ter) c.1321A>T (p.Lys441Ter) n.221+1098T>A | |
7 | g.117559636A>C | CA368984944 | CFTR,CFTR-AS1 | c.1565A>C (p.Lys522Thr) c.*1279A>C (n.*1279A>C) c.1382A>C (p.Lys461Thr) c.*123A>C (n.*123A>C) c.*1389A>C (n.*1389A>C) c.1139A>C (p.Lys380Thr) c.1475A>C (p.Lys492Thr) c.1655A>C (p.Lys552Thr) c.1322A>C (p.Lys441Thr) n.221+1097T>G | |
7 | g.117559636A>G | CA368984945 | CFTR,CFTR-AS1 | c.1565A>G (p.Lys522Arg) c.*1279A>G (n.*1279A>G) c.1382A>G (p.Lys461Arg) c.*123A>G (n.*123A>G) c.*1389A>G (n.*1389A>G) c.1139A>G (p.Lys380Arg) c.1475A>G (p.Lys492Arg) c.1655A>G (p.Lys552Arg) c.1322A>G (p.Lys441Arg) n.221+1097T>C | |
7 | g.117559636A>T | CA368984947 | CFTR,CFTR-AS1 | c.1565A>T (p.Lys522Ile) c.*1279A>T (n.*1279A>T) c.1382A>T (p.Lys461Ile) c.*123A>T (n.*123A>T) c.*1389A>T (n.*1389A>T) c.1139A>T (p.Lys380Ile) c.1475A>T (p.Lys492Ile) c.1655A>T (p.Lys552Ile) c.1322A>T (p.Lys441Ile) n.221+1097T>A | |
7 | g.117559637A>C | CA368984949 | CFTR,CFTR-AS1 | c.1566A>C (p.Lys522Asn) c.*1280A>C (n.*1280A>C) c.1383A>C (p.Lys461Asn) c.*124A>C (n.*124A>C) c.*1390A>C (n.*1390A>C) c.1140A>C (p.Lys380Asn) c.1476A>C (p.Lys492Asn) c.1656A>C (p.Lys552Asn) c.1323A>C (p.Lys441Asn) n.221+1096T>G | gnomAD v4 |
7 | g.117559637A>G | CA457228906 | CFTR,CFTR-AS1 | c.1566A>G (p.Lys522=) c.*1280A>G (n.*1280A>G) c.1383A>G (p.Lys461=) c.*124A>G (n.*124A>G) c.*1390A>G (n.*1390A>G) c.1140A>G (p.Lys380=) c.1476A>G (p.Lys492=) c.1656A>G (p.Lys552=) c.1323A>G (p.Lys441=) n.221+1096T>C | |
7 | g.117559637A>T | CA368984950 | CFTR,CFTR-AS1 | c.1566A>T (p.Lys522Asn) c.*1280A>T (n.*1280A>T) c.1383A>T (p.Lys461Asn) c.*124A>T (n.*124A>T) c.*1390A>T (n.*1390A>T) c.1140A>T (p.Lys380Asn) c.1476A>T (p.Lys492Asn) c.1656A>T (p.Lys552Asn) c.1323A>T (p.Lys441Asn) n.221+1096T>A | |
7 | g.117559638G>A | CA368984958 | CFTR,CFTR-AS1 | c.1567G>A (p.Ala523Thr) c.*1281G>A (n.*1281G>A) c.1384G>A (p.Ala462Thr) c.*125G>A (n.*125G>A) c.*1391G>A (n.*1391G>A) c.1141G>A (p.Ala381Thr) c.1477G>A (p.Ala493Thr) n.1G>A c.1657G>A (p.Ala553Thr) c.1324G>A (p.Ala442Thr) n.221+1095C>T | gnomAD v4 |
7 | g.117559638G>C | CA368984955 | CFTR,CFTR-AS1 | c.1567G>C (p.Ala523Pro) c.*1281G>C (n.*1281G>C) c.1384G>C (p.Ala462Pro) c.*125G>C (n.*125G>C) c.*1391G>C (n.*1391G>C) c.1141G>C (p.Ala381Pro) c.1477G>C (p.Ala493Pro) n.1G>C c.1657G>C (p.Ala553Pro) c.1324G>C (p.Ala442Pro) n.221+1095C>G | |
7 | g.117559638G>T | CA368984953 | CFTR,CFTR-AS1 | c.1567G>T (p.Ala523Ser) c.*1281G>T (n.*1281G>T) c.1384G>T (p.Ala462Ser) c.*125G>T (n.*125G>T) c.*1391G>T (n.*1391G>T) c.1141G>T (p.Ala381Ser) c.1477G>T (p.Ala493Ser) n.1G>T c.1657G>T (p.Ala553Ser) c.1324G>T (p.Ala442Ser) n.221+1095C>A | |
7 | g.117559639C>A | CA368984959 | CFTR,CFTR-AS1 | c.1568C>A (p.Ala523Glu) c.*1282C>A (n.*1282C>A) c.1385C>A (p.Ala462Glu) c.*126C>A (n.*126C>A) c.*1392C>A (n.*1392C>A) c.1142C>A (p.Ala381Glu) c.1478C>A (p.Ala493Glu) n.2C>A c.1658C>A (p.Ala553Glu) c.1325C>A (p.Ala442Glu) n.221+1094G>T | |
7 | g.117559639C>G | CA368984962 | CFTR,CFTR-AS1 | c.1568C>G (p.Ala523Gly) c.*1282C>G (n.*1282C>G) c.1385C>G (p.Ala462Gly) c.*126C>G (n.*126C>G) c.*1392C>G (n.*1392C>G) c.1142C>G (p.Ala381Gly) c.1478C>G (p.Ala493Gly) n.2C>G c.1658C>G (p.Ala553Gly) c.1325C>G (p.Ala442Gly) n.221+1094G>C | |
7 | g.117559639C>T | CA368984966 | CFTR,CFTR-AS1 | c.1568C>T (p.Ala523Val) c.*1282C>T (n.*1282C>T) c.1385C>T (p.Ala462Val) c.*126C>T (n.*126C>T) c.*1392C>T (n.*1392C>T) c.1142C>T (p.Ala381Val) c.1478C>T (p.Ala493Val) n.2C>T c.1658C>T (p.Ala553Val) c.1325C>T (p.Ala442Val) n.221+1094G>A | |
7 | g.117559640A>C | CA457228913 | CFTR,CFTR-AS1 | c.1569A>C (p.Ala523=) c.*1283A>C (n.*1283A>C) c.1386A>C (p.Ala462=) c.*127A>C (n.*127A>C) c.*1393A>C (n.*1393A>C) c.1143A>C (p.Ala381=) c.1479A>C (p.Ala493=) n.3A>C c.1659A>C (p.Ala553=) c.1326A>C (p.Ala442=) n.221+1093T>G | |
7 | g.117559640A>G | CA457228915 | CFTR,CFTR-AS1 | c.1569A>G (p.Ala523=) c.*1283A>G (n.*1283A>G) c.1386A>G (p.Ala462=) c.*127A>G (n.*127A>G) c.*1393A>G (n.*1393A>G) c.1143A>G (p.Ala381=) c.1479A>G (p.Ala493=) n.3A>G c.1659A>G (p.Ala553=) c.1326A>G (p.Ala442=) n.221+1093T>C | ClinVar gnomAD v4 |
7 | g.117559640A>T | CA457228916 | CFTR,CFTR-AS1 | c.1569A>T (p.Ala523=) c.*1283A>T (n.*1283A>T) c.1386A>T (p.Ala462=) c.*127A>T (n.*127A>T) c.*1393A>T (n.*1393A>T) c.1143A>T (p.Ala381=) c.1479A>T (p.Ala493=) n.3A>T c.1659A>T (p.Ala553=) c.1326A>T (p.Ala442=) n.221+1093T>A | |
7 | g.117559641T>A | CA368984969 | CFTR,CFTR-AS1 | c.1570T>A (p.Cys524Ser) c.*1284T>A (n.*1284T>A) c.1387T>A (p.Cys463Ser) c.*128T>A (n.*128T>A) c.*1394T>A (n.*1394T>A) c.1144T>A (p.Cys382Ser) c.1480T>A (p.Cys494Ser) n.4T>A c.1660T>A (p.Cys554Ser) c.1327T>A (p.Cys443Ser) n.221+1092A>T | gnomAD v4 |
7 | g.117559641T>C | CA164967837 | CFTR,CFTR-AS1 | c.1570T>C (p.Cys524Arg) c.*1284T>C (n.*1284T>C) c.1387T>C (p.Cys463Arg) c.*128T>C (n.*128T>C) c.*1394T>C (n.*1394T>C) c.1144T>C (p.Cys382Arg) c.1480T>C (p.Cys494Arg) n.4T>C c.1660T>C (p.Cys554Arg) c.1327T>C (p.Cys443Arg) n.221+1092A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559641T>G | CA368984987 | CFTR,CFTR-AS1 | c.1570T>G (p.Cys524Gly) c.*1284T>G (n.*1284T>G) c.1387T>G (p.Cys463Gly) c.*128T>G (n.*128T>G) c.*1394T>G (n.*1394T>G) c.1144T>G (p.Cys382Gly) c.1480T>G (p.Cys494Gly) n.4T>G c.1660T>G (p.Cys554Gly) c.1327T>G (p.Cys443Gly) n.221+1092A>C | |
7 | g.117559641T= | CA1737384875 | CFTR,CFTR-AS1 | c.1570T= (p.Cys524=) c.*1284T= (n.*1284T=) c.1387T= (p.Cys463=) c.*128T= (n.*128T=) c.*1394T= (n.*1394T=) c.1144T= (p.Cys382=) c.1480T= (p.Cys494=) n.4T= c.1660T= (p.Cys554=) c.1327T= (p.Cys443=) n.221+1092A= | |
7 | g.117559642G>A | CA368984990 | CFTR,CFTR-AS1 | c.1571G>A (p.Cys524Tyr) c.*1285G>A (n.*1285G>A) c.1388G>A (p.Cys463Tyr) c.*129G>A (n.*129G>A) c.*1395G>A (n.*1395G>A) c.1145G>A (p.Cys382Tyr) c.1481G>A (p.Cys494Tyr) n.5G>A c.1661G>A (p.Cys554Tyr) c.1328G>A (p.Cys443Tyr) n.221+1091C>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559642G>C | CA368984994 | CFTR,CFTR-AS1 | c.1571G>C (p.Cys524Ser) c.*1285G>C (n.*1285G>C) c.1388G>C (p.Cys463Ser) c.*129G>C (n.*129G>C) c.*1395G>C (n.*1395G>C) c.1145G>C (p.Cys382Ser) c.1481G>C (p.Cys494Ser) n.5G>C c.1661G>C (p.Cys554Ser) c.1328G>C (p.Cys443Ser) n.221+1091C>G | |
7 | g.117559642G= | CA1737384886 | CFTR,CFTR-AS1 | c.1571G= (p.Cys524=) c.*1285G= (n.*1285G=) c.1388G= (p.Cys463=) c.*129G= (n.*129G=) c.*1395G= (n.*1395G=) c.1145G= (p.Cys382=) c.1481G= (p.Cys494=) n.5G= c.1661G= (p.Cys554=) c.1328G= (p.Cys443=) n.221+1091C= | |
7 | g.117559642G>T | CA368984992 | CFTR,CFTR-AS1 | c.1571G>T (p.Cys524Phe) c.*1285G>T (n.*1285G>T) c.1388G>T (p.Cys463Phe) c.*129G>T (n.*129G>T) c.*1395G>T (n.*1395G>T) c.1145G>T (p.Cys382Phe) c.1481G>T (p.Cys494Phe) n.5G>T c.1661G>T (p.Cys554Phe) c.1328G>T (p.Cys443Phe) n.221+1091C>A | |
7 | g.117559642_117559643delinsGC | CA1737384889 | CFTR,CFTR-AS1 | c.1571_1572delinsGC (p.Cys524=) c.*1285_*1286delinsGC (n.*1285_*1286delinsGC) c.1388_1389delinsGC (p.Cys463=) c.*129_*130delinsGC (n.*129_*130delinsGC) c.*1395_*1396delinsGC (n.*1395_*1396delinsGC) c.1145_1146delinsGC (p.Cys382=) c.1481_1482delinsGC (p.Cys494=) n.5_6delinsGC c.1661_1662delinsGC (p.Cys554=) c.1328_1329delinsGC (p.Cys443=) n.221+1090_221+1091delinsGC | |
7 | g.117559643C>A | CA325546 | CFTR,CFTR-AS1 | c.1572C>A (p.Cys524Ter) c.*1286C>A (n.*1286C>A) c.1389C>A (p.Cys463Ter) c.*130C>A (n.*130C>A) c.*1396C>A (n.*1396C>A) c.1146C>A (p.Cys382Ter) c.1482C>A (p.Cys494Ter) n.6C>A c.1662C>A (p.Cys554Ter) c.1329C>A (p.Cys443Ter) n.221+1090G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559643C= | CA1737384890 | CFTR,CFTR-AS1 | c.1572C= (p.Cys524=) c.*1286C= (n.*1286C=) c.1389C= (p.Cys463=) c.*130C= (n.*130C=) c.*1396C= (n.*1396C=) c.1146C= (p.Cys382=) c.1482C= (p.Cys494=) n.6C= c.1662C= (p.Cys554=) c.1329C= (p.Cys443=) n.221+1090G= | |
7 | g.117559643C>G | CA368984998 | CFTR,CFTR-AS1 | c.1572C>G (p.Cys524Trp) c.*1286C>G (n.*1286C>G) c.1389C>G (p.Cys463Trp) c.*130C>G (n.*130C>G) c.*1396C>G (n.*1396C>G) c.1146C>G (p.Cys382Trp) c.1482C>G (p.Cys494Trp) n.6C>G c.1662C>G (p.Cys554Trp) c.1329C>G (p.Cys443Trp) n.221+1090G>C | |
7 | g.117559643C>T | CA457228926 | CFTR,CFTR-AS1 | c.1572C>T (p.Cys524=) c.*1286C>T (n.*1286C>T) c.1389C>T (p.Cys463=) c.*130C>T (n.*130C>T) c.*1396C>T (n.*1396C>T) c.1146C>T (p.Cys382=) c.1482C>T (p.Cys494=) n.6C>T c.1662C>T (p.Cys554=) c.1329C>T (p.Cys443=) n.221+1090G>A | |
7 | g.117559644del | CA4451024 | CFTR,CFTR-AS1 | c.1573del (p.Gln525AsnfsTer2) c.*1287del (n.*1287del) c.1390del (p.Gln464AsnfsTer2) c.*131del (n.*131del) c.*1397del (n.*1397del) c.1147del (p.Gln383AsnfsTer2) c.1483del (p.Gln495AsnfsTer2) n.7del c.1663del (p.Gln555AsnfsTer2) c.1330del (p.Gln444AsnfsTer2) n.221+1090del | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.117559644C>A | CA368985002 | CFTR,CFTR-AS1 | c.1573C>A (p.Gln525Lys) c.*1287C>A (n.*1287C>A) c.1390C>A (p.Gln464Lys) c.*131C>A (n.*131C>A) c.*1397C>A (n.*1397C>A) c.1147C>A (p.Gln383Lys) c.1483C>A (p.Gln495Lys) n.7C>A c.1663C>A (p.Gln555Lys) c.1330C>A (p.Gln444Lys) n.221+1089G>T | |
7 | g.117559644C= | CA1737384899 | CFTR,CFTR-AS1 | c.1573C= (p.Gln525=) c.*1287C= (n.*1287C=) c.1390C= (p.Gln464=) c.*131C= (n.*131C=) c.*1397C= (n.*1397C=) c.1147C= (p.Gln383=) c.1483C= (p.Gln495=) n.7C= c.1663C= (p.Gln555=) c.1330C= (p.Gln444=) n.221+1089G= | |
7 | g.117559644C>G | CA368985004 | CFTR,CFTR-AS1 | c.1573C>G (p.Gln525Glu) c.*1287C>G (n.*1287C>G) c.1390C>G (p.Gln464Glu) c.*131C>G (n.*131C>G) c.*1397C>G (n.*1397C>G) c.1147C>G (p.Gln383Glu) c.1483C>G (p.Gln495Glu) n.7C>G c.1663C>G (p.Gln555Glu) c.1330C>G (p.Gln444Glu) n.221+1089G>C | |
7 | g.117559644C>T | CA326532 | CFTR,CFTR-AS1 | c.1573C>T (p.Gln525Ter) c.*1287C>T (n.*1287C>T) c.1390C>T (p.Gln464Ter) c.*131C>T (n.*131C>T) c.*1397C>T (n.*1397C>T) c.1147C>T (p.Gln383Ter) c.1483C>T (p.Gln495Ter) n.7C>T c.1663C>T (p.Gln555Ter) c.1330C>T (p.Gln444Ter) n.221+1089G>A | ClinVar dbSNP gnomAD v4 |
7 | g.117559645A>C | CA368985007 | CFTR,CFTR-AS1 | c.1574A>C (p.Gln525Pro) c.*1288A>C (n.*1288A>C) c.1391A>C (p.Gln464Pro) c.*132A>C (n.*132A>C) c.*1398A>C (n.*1398A>C) c.1148A>C (p.Gln383Pro) c.1484A>C (p.Gln495Pro) n.8A>C c.1664A>C (p.Gln555Pro) c.1331A>C (p.Gln444Pro) n.221+1088T>G | |
7 | g.117559645A>G | CA368985008 | CFTR,CFTR-AS1 | c.1574A>G (p.Gln525Arg) c.*1288A>G (n.*1288A>G) c.1391A>G (p.Gln464Arg) c.*132A>G (n.*132A>G) c.*1398A>G (n.*1398A>G) c.1148A>G (p.Gln383Arg) c.1484A>G (p.Gln495Arg) n.8A>G c.1664A>G (p.Gln555Arg) c.1331A>G (p.Gln444Arg) n.221+1088T>C | |
7 | g.117559645A>T | CA368985011 | CFTR,CFTR-AS1 | c.1574A>T (p.Gln525Leu) c.*1288A>T (n.*1288A>T) c.1391A>T (p.Gln464Leu) c.*132A>T (n.*132A>T) c.*1398A>T (n.*1398A>T) c.1148A>T (p.Gln383Leu) c.1484A>T (p.Gln495Leu) n.8A>T c.1664A>T (p.Gln555Leu) c.1331A>T (p.Gln444Leu) n.221+1088T>A | |
7 | g.117559650_117559666del | CA2580076326 | CFTR,CFTR-AS1 | c.1579_1584+11del c.*1293_*1298+11del c.1396_1401+11del c.1579_1595del (p.Glu527CysfsTer?) c.*137_*153del (n.*137_*153del) c.*1403_*1408+11del c.1153_1158+11del c.1489_1494+11del n.13_18+11del c.1669_1674+11del c.1336_1341+11del n.221+1072_221+1088del | ClinVar |
7 | g.117559646A= | CA1737384905 | CFTR,CFTR-AS1 | c.1575A= (p.Gln525=) c.*1289A= (n.*1289A=) c.1392A= (p.Gln464=) c.*133A= (n.*133A=) c.*1399A= (n.*1399A=) c.1149A= (p.Gln383=) c.1485A= (p.Gln495=) n.9A= c.1665A= (p.Gln555=) c.1332A= (p.Gln444=) n.221+1087T= | |
7 | g.117559646A>C | CA368985013 | CFTR,CFTR-AS1 | c.1575A>C (p.Gln525His) c.*1289A>C (n.*1289A>C) c.1392A>C (p.Gln464His) c.*133A>C (n.*133A>C) c.*1399A>C (n.*1399A>C) c.1149A>C (p.Gln383His) c.1485A>C (p.Gln495His) n.9A>C c.1665A>C (p.Gln555His) c.1332A>C (p.Gln444His) n.221+1087T>G | |
7 | g.117559646A>G | CA457228935 | CFTR,CFTR-AS1 | c.1575A>G (p.Gln525=) c.*1289A>G (n.*1289A>G) c.1392A>G (p.Gln464=) c.*133A>G (n.*133A>G) c.*1399A>G (n.*1399A>G) c.1149A>G (p.Gln383=) c.1485A>G (p.Gln495=) n.9A>G c.1665A>G (p.Gln555=) c.1332A>G (p.Gln444=) n.221+1087T>C | dbSNP |
7 | g.117559646A>T | CA368985015 | CFTR,CFTR-AS1 | c.1575A>T (p.Gln525His) c.*1289A>T (n.*1289A>T) c.1392A>T (p.Gln464His) c.*133A>T (n.*133A>T) c.*1399A>T (n.*1399A>T) c.1149A>T (p.Gln383His) c.1485A>T (p.Gln495His) n.9A>T c.1665A>T (p.Gln555His) c.1332A>T (p.Gln444His) n.221+1087T>A | |
7 | g.117559647C>A | CA368985021 | CFTR,CFTR-AS1 | c.1576C>A (p.Leu526Ile) c.*1290C>A (n.*1290C>A) c.1393C>A (p.Leu465Ile) c.*134C>A (n.*134C>A) c.*1400C>A (n.*1400C>A) c.1150C>A (p.Leu384Ile) c.1486C>A (p.Leu496Ile) n.10C>A c.1666C>A (p.Leu556Ile) c.1333C>A (p.Leu445Ile) n.221+1086G>T | |
7 | g.117559647C>G | CA368985018 | CFTR,CFTR-AS1 | c.1576C>G (p.Leu526Val) c.*1290C>G (n.*1290C>G) c.1393C>G (p.Leu465Val) c.*134C>G (n.*134C>G) c.*1400C>G (n.*1400C>G) c.1150C>G (p.Leu384Val) c.1486C>G (p.Leu496Val) n.10C>G c.1666C>G (p.Leu556Val) c.1333C>G (p.Leu445Val) n.221+1086G>C | gnomAD v4 |
7 | g.117559647C>T | CA457228939 | CFTR,CFTR-AS1 | c.1576C>T (p.Leu526=) c.*1290C>T (n.*1290C>T) c.1393C>T (p.Leu465=) c.*134C>T (n.*134C>T) c.*1400C>T (n.*1400C>T) c.1150C>T (p.Leu384=) c.1486C>T (p.Leu496=) n.10C>T c.1666C>T (p.Leu556=) c.1333C>T (p.Leu445=) n.221+1086G>A | ClinVar |
7 | g.117559648T>A | CA368985024 | CFTR,CFTR-AS1 | c.1577T>A (p.Leu526Gln) c.*1291T>A (n.*1291T>A) c.1394T>A (p.Leu465Gln) c.*135T>A (n.*135T>A) c.*1401T>A (n.*1401T>A) c.1151T>A (p.Leu384Gln) c.1487T>A (p.Leu496Gln) n.11T>A c.1667T>A (p.Leu556Gln) c.1334T>A (p.Leu445Gln) n.221+1085A>T | |
7 | g.117559648T>C | CA368985027 | CFTR,CFTR-AS1 | c.1577T>C (p.Leu526Pro) c.*1291T>C (n.*1291T>C) c.1394T>C (p.Leu465Pro) c.*135T>C (n.*135T>C) c.*1401T>C (n.*1401T>C) c.1151T>C (p.Leu384Pro) c.1487T>C (p.Leu496Pro) n.11T>C c.1667T>C (p.Leu556Pro) c.1334T>C (p.Leu445Pro) n.221+1085A>G | ClinVar |
7 | g.117559648T>G | CA368985026 | CFTR,CFTR-AS1 | c.1577T>G (p.Leu526Arg) c.*1291T>G (n.*1291T>G) c.1394T>G (p.Leu465Arg) c.*135T>G (n.*135T>G) c.*1401T>G (n.*1401T>G) c.1151T>G (p.Leu384Arg) c.1487T>G (p.Leu496Arg) n.11T>G c.1667T>G (p.Leu556Arg) c.1334T>G (p.Leu445Arg) n.221+1085A>C | |
7 | g.117559649A>C | CA457228943 | CFTR,CFTR-AS1 | c.1578A>C (p.Leu526=) c.*1292A>C (n.*1292A>C) c.1395A>C (p.Leu465=) c.*136A>C (n.*136A>C) c.*1402A>C (n.*1402A>C) c.1152A>C (p.Leu384=) c.1488A>C (p.Leu496=) n.12A>C c.1668A>C (p.Leu556=) c.1335A>C (p.Leu445=) n.221+1084T>G | |
7 | g.117559649A>G | CA457228945 | CFTR,CFTR-AS1 | c.1578A>G (p.Leu526=) c.*1292A>G (n.*1292A>G) c.1395A>G (p.Leu465=) c.*136A>G (n.*136A>G) c.*1402A>G (n.*1402A>G) c.1152A>G (p.Leu384=) c.1488A>G (p.Leu496=) n.12A>G c.1668A>G (p.Leu556=) c.1335A>G (p.Leu445=) n.221+1084T>C | |
7 | g.117559649A>T | CA457228947 | CFTR,CFTR-AS1 | c.1578A>T (p.Leu526=) c.*1292A>T (n.*1292A>T) c.1395A>T (p.Leu465=) c.*136A>T (n.*136A>T) c.*1402A>T (n.*1402A>T) c.1152A>T (p.Leu384=) c.1488A>T (p.Leu496=) n.12A>T c.1668A>T (p.Leu556=) c.1335A>T (p.Leu445=) n.221+1084T>A | |
7 | g.117559650G>A | CA368985030 | CFTR,CFTR-AS1 | c.1579G>A (p.Glu527Lys) c.*1293G>A (n.*1293G>A) c.1396G>A (p.Glu466Lys) c.*137G>A (n.*137G>A) c.*1403G>A (n.*1403G>A) c.1153G>A (p.Glu385Lys) c.1489G>A (p.Glu497Lys) n.13G>A c.1669G>A (p.Glu557Lys) c.1336G>A (p.Glu446Lys) n.221+1083C>T | |
7 | g.117559650G>C | CA326534 | CFTR,CFTR-AS1 | c.1579G>C (p.Glu527Gln) c.*1293G>C (n.*1293G>C) c.1396G>C (p.Glu466Gln) c.*137G>C (n.*137G>C) c.*1403G>C (n.*1403G>C) c.1153G>C (p.Glu385Gln) c.1489G>C (p.Glu497Gln) n.13G>C c.1669G>C (p.Glu557Gln) c.1336G>C (p.Glu446Gln) n.221+1083C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559650G= | CA1737384909 | CFTR,CFTR-AS1 | c.1579G= (p.Glu527=) c.*1293G= (n.*1293G=) c.1396G= (p.Glu466=) c.*137G= (n.*137G=) c.*1403G= (n.*1403G=) c.1153G= (p.Glu385=) c.1489G= (p.Glu497=) n.13G= c.1669G= (p.Glu557=) c.1336G= (p.Glu446=) n.221+1083C= | |
7 | g.117559650G>T | CA368985034 | CFTR,CFTR-AS1 | c.1579G>T (p.Glu527Ter) c.*1293G>T (n.*1293G>T) c.1396G>T (p.Glu466Ter) c.*137G>T (n.*137G>T) c.*1403G>T (n.*1403G>T) c.1153G>T (p.Glu385Ter) c.1489G>T (p.Glu497Ter) n.13G>T c.1669G>T (p.Glu557Ter) c.1336G>T (p.Glu446Ter) n.221+1083C>A | ClinVar |
7 | g.117559651A= | CA1737384913 | CFTR,CFTR-AS1 | c.1580A= (p.Glu527=) c.*1294A= (n.*1294A=) c.1397A= (p.Glu466=) c.*138A= (n.*138A=) c.*1404A= (n.*1404A=) c.1154A= (p.Glu385=) c.1490A= (p.Glu497=) n.14A= c.1670A= (p.Glu557=) c.1337A= (p.Glu446=) n.221+1082T= | |
7 | g.117559651A>C | CA368985037 | CFTR,CFTR-AS1 | c.1580A>C (p.Glu527Ala) c.*1294A>C (n.*1294A>C) c.1397A>C (p.Glu466Ala) c.*138A>C (n.*138A>C) c.*1404A>C (n.*1404A>C) c.1154A>C (p.Glu385Ala) c.1490A>C (p.Glu497Ala) n.14A>C c.1670A>C (p.Glu557Ala) c.1337A>C (p.Glu446Ala) n.221+1082T>G | |
7 | g.117559651A>G | CA4451025 | CFTR,CFTR-AS1 | c.1580A>G (p.Glu527Gly) c.*1294A>G (n.*1294A>G) c.1397A>G (p.Glu466Gly) c.*138A>G (n.*138A>G) c.*1404A>G (n.*1404A>G) c.1154A>G (p.Glu385Gly) c.1490A>G (p.Glu497Gly) n.14A>G c.1670A>G (p.Glu557Gly) c.1337A>G (p.Glu446Gly) n.221+1082T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559651A>T | CA368985041 | CFTR,CFTR-AS1 | c.1580A>T (p.Glu527Val) c.*1294A>T (n.*1294A>T) c.1397A>T (p.Glu466Val) c.*138A>T (n.*138A>T) c.*1404A>T (n.*1404A>T) c.1154A>T (p.Glu385Val) c.1490A>T (p.Glu497Val) n.14A>T c.1670A>T (p.Glu557Val) c.1337A>T (p.Glu446Val) n.221+1082T>A | |
7 | g.117559652A= | CA1737384919 | CFTR,CFTR-AS1 | c.1581A= (p.Glu527=) c.*1295A= (n.*1295A=) c.1398A= (p.Glu466=) c.*139A= (n.*139A=) c.*1405A= (n.*1405A=) c.1155A= (p.Glu385=) c.1491A= (p.Glu497=) n.15A= c.1671A= (p.Glu557=) c.1338A= (p.Glu446=) n.221+1081T= | |
7 | g.117559652A>C | CA368985043 | CFTR,CFTR-AS1 | c.1581A>C (p.Glu527Asp) c.*1295A>C (n.*1295A>C) c.1398A>C (p.Glu466Asp) c.*139A>C (n.*139A>C) c.*1405A>C (n.*1405A>C) c.1155A>C (p.Glu385Asp) c.1491A>C (p.Glu497Asp) n.15A>C c.1671A>C (p.Glu557Asp) c.1338A>C (p.Glu446Asp) n.221+1081T>G | |
7 | g.117559652A>G | CA175542 | CFTR,CFTR-AS1 | c.1581A>G (p.Glu527=) c.*1295A>G (n.*1295A>G) c.1398A>G (p.Glu466=) c.*139A>G (n.*139A>G) c.*1405A>G (n.*1405A>G) c.1155A>G (p.Glu385=) c.1491A>G (p.Glu497=) n.15A>G c.1671A>G (p.Glu557=) c.1338A>G (p.Glu446=) n.221+1081T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559652A>T | CA368985047 | CFTR,CFTR-AS1 | c.1581A>T (p.Glu527Asp) c.*1295A>T (n.*1295A>T) c.1398A>T (p.Glu466Asp) c.*139A>T (n.*139A>T) c.*1405A>T (n.*1405A>T) c.1155A>T (p.Glu385Asp) c.1491A>T (p.Glu497Asp) n.15A>T c.1671A>T (p.Glu557Asp) c.1338A>T (p.Glu446Asp) n.221+1081T>A | |
7 | g.117559653G>A | CA4451026 | CFTR,CFTR-AS1 | c.1582G>A (p.Glu528Lys) c.*1296G>A (n.*1296G>A) c.1399G>A (p.Glu467Lys) c.*140G>A (n.*140G>A) c.*1406G>A (n.*1406G>A) c.1156G>A (p.Glu386Lys) c.1492G>A (p.Glu498Lys) n.16G>A c.1672G>A (p.Glu558Lys) c.1339G>A (p.Glu447Lys) n.221+1080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559653G>C | CA368985051 | CFTR,CFTR-AS1 | c.1582G>C (p.Glu528Gln) c.*1296G>C (n.*1296G>C) c.1399G>C (p.Glu467Gln) c.*140G>C (n.*140G>C) c.*1406G>C (n.*1406G>C) c.1156G>C (p.Glu386Gln) c.1492G>C (p.Glu498Gln) n.16G>C c.1672G>C (p.Glu558Gln) c.1339G>C (p.Glu447Gln) n.221+1080C>G | |
7 | g.117559653G= | CA1737384923 | CFTR,CFTR-AS1 | c.1582G= (p.Glu528=) c.*1296G= (n.*1296G=) c.1399G= (p.Glu467=) c.*140G= (n.*140G=) c.*1406G= (n.*1406G=) c.1156G= (p.Glu386=) c.1492G= (p.Glu498=) n.16G= c.1672G= (p.Glu558=) c.1339G= (p.Glu447=) n.221+1080C= | |
7 | g.117559653G>T | CA368985053 | CFTR,CFTR-AS1 | c.1582G>T (p.Glu528Ter) c.*1296G>T (n.*1296G>T) c.1399G>T (p.Glu467Ter) c.*140G>T (n.*140G>T) c.*1406G>T (n.*1406G>T) c.1156G>T (p.Glu386Ter) c.1492G>T (p.Glu498Ter) n.16G>T c.1672G>T (p.Glu558Ter) c.1339G>T (p.Glu447Ter) n.221+1080C>A | |
7 | g.117559654A= | CA1737384929 | CFTR,CFTR-AS1 | c.1583A= (p.Glu528=) c.*1297A= (n.*1297A=) c.1400A= (p.Glu467=) c.*141A= (n.*141A=) c.*1407A= (n.*1407A=) c.1157A= (p.Glu386=) c.1493A= (p.Glu498=) n.17A= c.1673A= (p.Glu558=) c.1340A= (p.Glu447=) n.221+1079T= | |
7 | g.117559654A>C | CA368985061 | CFTR,CFTR-AS1 | c.1583A>C (p.Glu528Ala) c.*1297A>C (n.*1297A>C) c.1400A>C (p.Glu467Ala) c.*141A>C (n.*141A>C) c.*1407A>C (n.*1407A>C) c.1157A>C (p.Glu386Ala) c.1493A>C (p.Glu498Ala) n.17A>C c.1673A>C (p.Glu558Ala) c.1340A>C (p.Glu447Ala) n.221+1079T>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559654A>G | CA368985058 | CFTR,CFTR-AS1 | c.1583A>G (p.Glu528Gly) c.*1297A>G (n.*1297A>G) c.1400A>G (p.Glu467Gly) c.*141A>G (n.*141A>G) c.*1407A>G (n.*1407A>G) c.1157A>G (p.Glu386Gly) c.1493A>G (p.Glu498Gly) n.17A>G c.1673A>G (p.Glu558Gly) c.1340A>G (p.Glu447Gly) n.221+1079T>C | ClinVar dbSNP |
7 | g.117559654A>T | CA368985059 | CFTR,CFTR-AS1 | c.1583A>T (p.Glu528Val) c.*1297A>T (n.*1297A>T) c.1400A>T (p.Glu467Val) c.*141A>T (n.*141A>T) c.*1407A>T (n.*1407A>T) c.1157A>T (p.Glu386Val) c.1493A>T (p.Glu498Val) n.17A>T c.1673A>T (p.Glu558Val) c.1340A>T (p.Glu447Val) n.221+1079T>A | gnomAD v4 |
7 | g.117559655G>A | CA132749 | CFTR,CFTR-AS1 | c.1584G>A (p.Glu528=) c.*1298G>A (n.*1298G>A) c.1401G>A (p.Glu467=) c.*142G>A (n.*142G>A) c.*1408G>A (n.*1408G>A) c.1158G>A (p.Glu386=) c.1494G>A (p.Glu498=) n.18G>A c.1674G>A (p.Glu558=) c.1341G>A (p.Glu447=) n.221+1078C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559655G>C | CA368985063 | CFTR,CFTR-AS1 | c.1584G>C (p.Glu528Asp) c.*1298G>C (n.*1298G>C) c.1401G>C (p.Glu467Asp) c.*142G>C (n.*142G>C) c.*1408G>C (n.*1408G>C) c.1158G>C (p.Glu386Asp) c.1494G>C (p.Glu498Asp) n.18G>C c.1674G>C (p.Glu558Asp) c.1341G>C (p.Glu447Asp) n.221+1078C>G | ClinVar dbSNP |
7 | g.117559655G= | CA1737384943 | CFTR,CFTR-AS1 | c.1584G= (p.Glu528=) c.*1298G= (n.*1298G=) c.1401G= (p.Glu467=) c.*142G= (n.*142G=) c.*1408G= (n.*1408G=) c.1158G= (p.Glu386=) c.1494G= (p.Glu498=) n.18G= c.1674G= (p.Glu558=) c.1341G= (p.Glu447=) n.221+1078C= | |
7 | g.117559655G>T | CA326541 | CFTR,CFTR-AS1 | c.1584G>T (p.Glu528Asp) c.*1298G>T (n.*1298G>T) c.1401G>T (p.Glu467Asp) c.*142G>T (n.*142G>T) c.*1408G>T (n.*1408G>T) c.1158G>T (p.Glu386Asp) c.1494G>T (p.Glu498Asp) n.18G>T c.1674G>T (p.Glu558Asp) c.1341G>T (p.Glu447Asp) n.221+1078C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559656G>A | CA326537 | CFTR,CFTR-AS1 | c.1584+1G>A (n.1584+1G>A) c.*1298+1G>A (n.*1298+1G>A) c.1401+1G>A (n.1401+1G>A) c.1585G>A (p.Val529Ile) c.*143G>A (n.*143G>A) c.*1408+1G>A (n.*1408+1G>A) c.1158+1G>A (n.1158+1G>A) c.1494+1G>A (n.1494+1G>A) n.18+1G>A c.1674+1G>A (n.1674+1G>A) c.1341+1G>A (n.1341+1G>A) n.221+1077C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559656G>C | CA368985069 | CFTR,CFTR-AS1 | c.1584+1G>C (n.1584+1G>C) c.*1298+1G>C (n.*1298+1G>C) c.1401+1G>C (n.1401+1G>C) c.1585G>C (p.Val529Leu) c.*143G>C (n.*143G>C) c.*1408+1G>C (n.*1408+1G>C) c.1158+1G>C (n.1158+1G>C) c.1494+1G>C (n.1494+1G>C) n.18+1G>C c.1674+1G>C (n.1674+1G>C) c.1341+1G>C (n.1341+1G>C) n.221+1077C>G | |
7 | g.117559656G= | CA1737384947 | CFTR,CFTR-AS1 | c.1584+1G= (n.1584+1G=) c.*1298+1G= (n.*1298+1G=) c.1401+1G= (n.1401+1G=) c.1585G= (p.Val529=) c.*143G= (n.*143G=) c.*1408+1G= (n.*1408+1G=) c.1158+1G= (n.1158+1G=) c.1494+1G= (n.1494+1G=) n.18+1G= c.1674+1G= (n.1674+1G=) c.1341+1G= (n.1341+1G=) n.221+1077C= | |
7 | g.117559656G>T | CA326538 | CFTR,CFTR-AS1 | c.1584+1G>T (n.1584+1G>T) c.*1298+1G>T (n.*1298+1G>T) c.1401+1G>T (n.1401+1G>T) c.1585G>T (p.Val529Leu) c.*143G>T (n.*143G>T) c.*1408+1G>T (n.*1408+1G>T) c.1158+1G>T (n.1158+1G>T) c.1494+1G>T (n.1494+1G>T) n.18+1G>T c.1674+1G>T (n.1674+1G>T) c.1341+1G>T (n.1341+1G>T) n.221+1077C>A | ClinVar dbSNP |
7 | g.117559657T>A | CA368985072 | CFTR,CFTR-AS1 | c.1584+2T>A (n.1584+2T>A) c.*1298+2T>A (n.*1298+2T>A) c.1401+2T>A (n.1401+2T>A) c.1586T>A (p.Val529Glu) c.*144T>A (n.*144T>A) c.*1408+2T>A (n.*1408+2T>A) c.1158+2T>A (n.1158+2T>A) c.1494+2T>A (n.1494+2T>A) n.18+2T>A c.1674+2T>A (n.1674+2T>A) c.1341+2T>A (n.1341+2T>A) n.221+1076A>T | |
7 | g.117559657T>C | CA326539 | CFTR,CFTR-AS1 | c.1584+2T>C (n.1584+2T>C) c.*1298+2T>C (n.*1298+2T>C) c.1401+2T>C (n.1401+2T>C) c.1586T>C (p.Val529Ala) c.*144T>C (n.*144T>C) c.*1408+2T>C (n.*1408+2T>C) c.1158+2T>C (n.1158+2T>C) c.1494+2T>C (n.1494+2T>C) n.18+2T>C c.1674+2T>C (n.1674+2T>C) c.1341+2T>C (n.1341+2T>C) n.221+1076A>G | ClinVar dbSNP |
7 | g.117559657T>G | CA368985074 | CFTR,CFTR-AS1 | c.1584+2T>G (n.1584+2T>G) c.*1298+2T>G (n.*1298+2T>G) c.1401+2T>G (n.1401+2T>G) c.1586T>G (p.Val529Gly) c.*144T>G (n.*144T>G) c.*1408+2T>G (n.*1408+2T>G) c.1158+2T>G (n.1158+2T>G) c.1494+2T>G (n.1494+2T>G) n.18+2T>G c.1674+2T>G (n.1674+2T>G) c.1341+2T>G (n.1341+2T>G) n.221+1076A>C | |
7 | g.117559657T= | CA1737384954 | CFTR,CFTR-AS1 | c.1584+2T= (n.1584+2T=) c.*1298+2T= (n.*1298+2T=) c.1401+2T= (n.1401+2T=) c.1586T= (p.Val529=) c.*144T= (n.*144T=) c.*1408+2T= (n.*1408+2T=) c.1158+2T= (n.1158+2T=) c.1494+2T= (n.1494+2T=) n.18+2T= c.1674+2T= (n.1674+2T=) c.1341+2T= (n.1341+2T=) n.221+1076A= | |
7 | g.117559658A>G | CA2715456363 | CFTR,CFTR-AS1 | c.1584+3A>G (n.1584+3A>G) c.*1298+3A>G (n.*1298+3A>G) c.1401+3A>G (n.1401+3A>G) c.1587A>G (p.Val529=) c.*145A>G (n.*145A>G) c.*1408+3A>G (n.*1408+3A>G) c.1158+3A>G (n.1158+3A>G) c.1494+3A>G (n.1494+3A>G) n.18+3A>G c.1674+3A>G (n.1674+3A>G) c.1341+3A>G (n.1341+3A>G) n.221+1075T>C | dbSNP |
7 | g.117559659A= | CA1737384958 | CFTR,CFTR-AS1 | c.1584+4A= (n.1584+4A=) c.*1298+4A= (n.*1298+4A=) c.1401+4A= (n.1401+4A=) c.1588A= (p.Arg530=) c.*146A= (n.*146A=) c.*1408+4A= (n.*1408+4A=) c.1158+4A= (n.1158+4A=) c.1494+4A= (n.1494+4A=) n.18+4A= c.1674+4A= (n.1674+4A=) c.1341+4A= (n.1341+4A=) n.221+1074T= | |
7 | g.117559659A>G | CA164967894 | CFTR,CFTR-AS1 | c.1584+4A>G (n.1584+4A>G) c.*1298+4A>G (n.*1298+4A>G) c.1401+4A>G (n.1401+4A>G) c.1588A>G (p.Arg530Gly) c.*146A>G (n.*146A>G) c.*1408+4A>G (n.*1408+4A>G) c.1158+4A>G (n.1158+4A>G) c.1494+4A>G (n.1494+4A>G) n.18+4A>G c.1674+4A>G (n.1674+4A>G) c.1341+4A>G (n.1341+4A>G) n.221+1074T>C | dbSNP |
7 | g.117559659A>T | CA658821281 | CFTR,CFTR-AS1 | c.1584+4A>T (n.1584+4A>T) c.*1298+4A>T (n.*1298+4A>T) c.1401+4A>T (n.1401+4A>T) c.1588A>T (p.Arg530Ter) c.*146A>T (n.*146A>T) c.*1408+4A>T (n.*1408+4A>T) c.1158+4A>T (n.1158+4A>T) c.1494+4A>T (n.1494+4A>T) n.18+4A>T c.1674+4A>T (n.1674+4A>T) c.1341+4A>T (n.1341+4A>T) n.221+1074T>A | ClinVar dbSNP |
7 | g.117559660G>C | CA2580076328 | CFTR,CFTR-AS1 | c.1584+5G>C (n.1584+5G>C) c.*1298+5G>C (n.*1298+5G>C) c.1401+5G>C (n.1401+5G>C) c.1589G>C (p.Arg530Thr) c.*147G>C (n.*147G>C) c.*1408+5G>C (n.*1408+5G>C) c.1158+5G>C (n.1158+5G>C) c.1494+5G>C (n.1494+5G>C) n.18+5G>C c.1674+5G>C (n.1674+5G>C) c.1341+5G>C (n.1341+5G>C) n.221+1073C>G | ClinVar |
7 | g.117559661A>T | CA2562295587 | CFTR,CFTR-AS1 | c.1584+6A>T (n.1584+6A>T) c.*1298+6A>T (n.*1298+6A>T) c.1401+6A>T (n.1401+6A>T) c.1590A>T (p.Arg530Ser) c.*148A>T (n.*148A>T) c.*1408+6A>T (n.*1408+6A>T) c.1158+6A>T (n.1158+6A>T) c.1494+6A>T (n.1494+6A>T) n.18+6A>T c.1674+6A>T (n.1674+6A>T) c.1341+6A>T (n.1341+6A>T) n.221+1072T>A | |
7 | g.117559664C>A | CA2579000031 | CFTR,CFTR-AS1 | c.1584+9C>A (n.1584+9C>A) c.*1298+9C>A (n.*1298+9C>A) c.1401+9C>A (n.1401+9C>A) c.1593C>A (p.Asn531Lys) c.*151C>A (n.*151C>A) c.*1408+9C>A (n.*1408+9C>A) c.1158+9C>A (n.1158+9C>A) c.1494+9C>A (n.1494+9C>A) n.18+9C>A c.1674+9C>A (n.1674+9C>A) c.1341+9C>A (n.1341+9C>A) n.221+1069G>T | |
7 | g.117559664C>T | CA2499218689 | CFTR,CFTR-AS1 | c.1584+9C>T (n.1584+9C>T) c.*1298+9C>T (n.*1298+9C>T) c.1401+9C>T (n.1401+9C>T) c.1593C>T (p.Asn531=) c.*151C>T (n.*151C>T) c.*1408+9C>T (n.*1408+9C>T) c.1158+9C>T (n.1158+9C>T) c.1494+9C>T (n.1494+9C>T) n.18+9C>T c.1674+9C>T (n.1674+9C>T) c.1341+9C>T (n.1341+9C>T) n.221+1069G>A | ClinVar dbSNP |
7 | g.117559665T>G | CA2684618605 | CFTR,CFTR-AS1 | c.1584+10T>G (n.1584+10T>G) c.*1298+10T>G (n.*1298+10T>G) c.1401+10T>G (n.1401+10T>G) c.1594T>G (p.Tyr532Asp) c.*152T>G (n.*152T>G) c.*1408+10T>G (n.*1408+10T>G) c.1158+10T>G (n.1158+10T>G) c.1494+10T>G (n.1494+10T>G) n.18+10T>G c.1674+10T>G (n.1674+10T>G) c.1341+10T>G (n.1341+10T>G) n.221+1068A>C | ClinVar gnomAD v4 |
7 | g.117559665T= | CA1737384964 | CFTR,CFTR-AS1 | c.1584+10T= (n.1584+10T=) c.*1298+10T= (n.*1298+10T=) c.1401+10T= (n.1401+10T=) c.1594T= (p.Tyr532=) c.*152T= (n.*152T=) c.*1408+10T= (n.*1408+10T=) c.1158+10T= (n.1158+10T=) c.1494+10T= (n.1494+10T=) n.18+10T= c.1674+10T= (n.1674+10T=) c.1341+10T= (n.1341+10T=) n.221+1068A= | |
7 | g.117559665dup | CA913111908 | CFTR,CFTR-AS1 | c.1584+10dup (n.1584+10dup) c.*1298+10dup (n.*1298+10dup) c.1401+10dup (n.1401+10dup) c.1594dup (p.Tyr532LeufsTer?) c.*152dup (n.*152dup) c.*1408+10dup (n.*1408+10dup) c.1158+10dup (n.1158+10dup) c.1494+10dup (n.1494+10dup) n.18+10dup c.1674+10dup (n.1674+10dup) c.1341+10dup (n.1341+10dup) n.221+1068dup | |
7 | g.117559666_117559667del | CA2684618604 | CFTR,CFTR-AS1 | c.1584+11_1584+12del (n.1584+11_1584+12del) c.*1298+11_*1298+12del (n.*1298+11_*1298+12del) c.1401+11_1401+12del (n.1401+11_1401+12del) c.1595_1596del (p.Tyr532CysfsTer?) c.*153_*154del (n.*153_*154del) c.*1408+11_*1408+12del (n.*1408+11_*1408+12del) c.1158+11_1158+12del (n.1158+11_1158+12del) c.1494+11_1494+12del (n.1494+11_1494+12del) n.18+11_18+12del c.1674+11_1674+12del (n.1674+11_1674+12del) c.1341+11_1341+12del (n.1341+11_1341+12del) n.221+1067_221+1068del | gnomAD v4 |
7 | g.117559666A= | CA1737384970 | CFTR,CFTR-AS1 | c.1584+11A= (n.1584+11A=) c.*1298+11A= (n.*1298+11A=) c.1401+11A= (n.1401+11A=) c.1595A= (p.Tyr532=) c.*153A= (n.*153A=) c.*1408+11A= (n.*1408+11A=) c.1158+11A= (n.1158+11A=) c.1494+11A= (n.1494+11A=) n.18+11A= c.1674+11A= (n.1674+11A=) c.1341+11A= (n.1341+11A=) n.221+1067T= | |
7 | g.117559666A>G | CA4451027 | CFTR,CFTR-AS1 | c.1584+11A>G (n.1584+11A>G) c.*1298+11A>G (n.*1298+11A>G) c.1401+11A>G (n.1401+11A>G) c.1595A>G (p.Tyr532Cys) c.*153A>G (n.*153A>G) c.*1408+11A>G (n.*1408+11A>G) c.1158+11A>G (n.1158+11A>G) c.1494+11A>G (n.1494+11A>G) n.18+11A>G c.1674+11A>G (n.1674+11A>G) c.1341+11A>G (n.1341+11A>G) n.221+1067T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559666A>T | CA2684618606 | CFTR,CFTR-AS1 | c.1584+11A>T (n.1584+11A>T) c.*1298+11A>T (n.*1298+11A>T) c.1401+11A>T (n.1401+11A>T) c.1595A>T (p.Tyr532Phe) c.*153A>T (n.*153A>T) c.*1408+11A>T (n.*1408+11A>T) c.1158+11A>T (n.1158+11A>T) c.1494+11A>T (n.1494+11A>T) n.18+11A>T c.1674+11A>T (n.1674+11A>T) c.1341+11A>T (n.1341+11A>T) n.221+1067T>A | gnomAD v4 |
7 | g.117559666_117559668dup | CA658821282 | CFTR,CFTR-AS1 | c.1584+11_1584+13dup (n.1584+11_1584+13dup) c.*1298+11_*1298+13dup (n.*1298+11_*1298+13dup) c.1401+11_1401+13dup (n.1401+11_1401+13dup) c.1595_1597dup (p.Tyr532_Val533insAsp) c.*153_*155dup (n.*153_*155dup) c.*1408+11_*1408+13dup (n.*1408+11_*1408+13dup) c.1158+11_1158+13dup (n.1158+11_1158+13dup) c.1494+11_1494+13dup (n.1494+11_1494+13dup) n.18+11_18+13dup c.1674+11_1674+13dup (n.1674+11_1674+13dup) c.1341+11_1341+13dup (n.1341+11_1341+13dup) n.221+1065_221+1067dup | ClinVar dbSNP |
7 | g.117559667T>C | CA325693 | CFTR,CFTR-AS1 | c.1584+12T>C (n.1584+12T>C) c.*1298+12T>C (n.*1298+12T>C) c.1401+12T>C (n.1401+12T>C) c.1596T>C (p.Tyr532=) c.*154T>C (n.*154T>C) c.*1408+12T>C (n.*1408+12T>C) c.1158+12T>C (n.1158+12T>C) c.1494+12T>C (n.1494+12T>C) n.18+12T>C c.1674+12T>C (n.1674+12T>C) c.1341+12T>C (n.1341+12T>C) n.221+1066A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559667T= | CA1737384979 | CFTR,CFTR-AS1 | c.1584+12T= (n.1584+12T=) c.*1298+12T= (n.*1298+12T=) c.1401+12T= (n.1401+12T=) c.1596T= (p.Tyr532=) c.*154T= (n.*154T=) c.*1408+12T= (n.*1408+12T=) c.1158+12T= (n.1158+12T=) c.1494+12T= (n.1494+12T=) n.18+12T= c.1674+12T= (n.1674+12T=) c.1341+12T= (n.1341+12T=) n.221+1066A= | |
7 | g.117559668G>A | CA2582341935 | CFTR,CFTR-AS1 | c.1584+13G>A (n.1584+13G>A) c.*1298+13G>A (n.*1298+13G>A) c.1401+13G>A (n.1401+13G>A) c.1597G>A (p.Val533Met) c.*155G>A (n.*155G>A) c.*1408+13G>A (n.*1408+13G>A) c.1158+13G>A (n.1158+13G>A) c.1494+13G>A (n.1494+13G>A) n.18+13G>A c.1674+13G>A (n.1674+13G>A) c.1341+13G>A (n.1341+13G>A) n.221+1065C>T | ClinVar gnomAD v4 |
7 | g.117559669T>C | CA2684618607 | CFTR,CFTR-AS1 | c.1584+14T>C (n.1584+14T>C) c.*1298+14T>C (n.*1298+14T>C) c.1401+14T>C (n.1401+14T>C) c.1598T>C (p.Val533Ala) c.*156T>C (n.*156T>C) c.*1408+14T>C (n.*1408+14T>C) c.1158+14T>C (n.1158+14T>C) c.1494+14T>C (n.1494+14T>C) n.18+14T>C c.1674+14T>C (n.1674+14T>C) c.1341+14T>C (n.1341+14T>C) n.221+1064A>G | gnomAD v4 |
7 | g.117559670G>A | CA2684618608 | CFTR,CFTR-AS1 | c.1584+15G>A (n.1584+15G>A) c.*1298+15G>A (n.*1298+15G>A) c.1401+15G>A (n.1401+15G>A) c.1599G>A (p.Val533=) c.*157G>A (n.*157G>A) c.*1408+15G>A (n.*1408+15G>A) c.1158+15G>A (n.1158+15G>A) c.1494+15G>A (n.1494+15G>A) n.18+15G>A c.1674+15G>A (n.1674+15G>A) c.1341+15G>A (n.1341+15G>A) n.221+1063C>T | gnomAD v4 |
7 | g.117559670G= | CA1737384989 | CFTR,CFTR-AS1 | c.1584+15G= (n.1584+15G=) c.*1298+15G= (n.*1298+15G=) c.1401+15G= (n.1401+15G=) c.1599G= (p.Val533=) c.*157G= (n.*157G=) c.*1408+15G= (n.*1408+15G=) c.1158+15G= (n.1158+15G=) c.1494+15G= (n.1494+15G=) n.18+15G= c.1674+15G= (n.1674+15G=) c.1341+15G= (n.1341+15G=) n.221+1063C= | |
7 | g.117559670G>T | CA4451028 | CFTR,CFTR-AS1 | c.1584+15G>T (n.1584+15G>T) c.*1298+15G>T (n.*1298+15G>T) c.1401+15G>T (n.1401+15G>T) c.1599G>T (p.Val533=) c.*157G>T (n.*157G>T) c.*1408+15G>T (n.*1408+15G>T) c.1158+15G>T (n.1158+15G>T) c.1494+15G>T (n.1494+15G>T) n.18+15G>T c.1674+15G>T (n.1674+15G>T) c.1341+15G>T (n.1341+15G>T) n.221+1063C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559671A= | CA1737384991 | CFTR,CFTR-AS1 | c.1584+16A= (n.1584+16A=) c.*1298+16A= (n.*1298+16A=) c.1401+16A= (n.1401+16A=) c.1600A= (p.Lys534=) c.*158A= (n.*158A=) c.*1408+16A= (n.*1408+16A=) c.1158+16A= (n.1158+16A=) c.1494+16A= (n.1494+16A=) n.18+16A= c.1674+16A= (n.1674+16A=) c.1341+16A= (n.1341+16A=) n.221+1062T= | |
7 | g.117559671A>G | CA1737384992 | CFTR,CFTR-AS1 | c.1584+16A>G (n.1584+16A>G) c.*1298+16A>G (n.*1298+16A>G) c.1401+16A>G (n.1401+16A>G) c.1600A>G (p.Lys534Glu) c.*158A>G (n.*158A>G) c.*1408+16A>G (n.*1408+16A>G) c.1158+16A>G (n.1158+16A>G) c.1494+16A>G (n.1494+16A>G) n.18+16A>G c.1674+16A>G (n.1674+16A>G) c.1341+16A>G (n.1341+16A>G) n.221+1062T>C | dbSNP gnomAD v4 |
7 | g.117559674del | CA2739279070 | CFTR,CFTR-AS1 | c.1584+19del (n.1584+19del) c.*1298+19del (n.*1298+19del) c.1401+19del (n.1401+19del) c.1603del (p.Thr535LeufsTer?) c.*161del (n.*161del) c.*1408+19del (n.*1408+19del) c.1158+19del (n.1158+19del) c.1494+19del (n.1494+19del) n.18+19del c.1674+19del (n.1674+19del) c.1341+19del (n.1341+19del) n.221+1062del | ClinVar |
7 | g.117559672A>G | CA2684618609 | CFTR,CFTR-AS1 | c.1584+17A>G (n.1584+17A>G) c.*1298+17A>G (n.*1298+17A>G) c.1401+17A>G (n.1401+17A>G) c.1601A>G (p.Lys534Arg) c.*159A>G (n.*159A>G) c.*1408+17A>G (n.*1408+17A>G) c.1158+17A>G (n.1158+17A>G) c.1494+17A>G (n.1494+17A>G) n.18+17A>G c.1674+17A>G (n.1674+17A>G) c.1341+17A>G (n.1341+17A>G) n.221+1061T>C | gnomAD v4 |
7 | g.117559673A= | CA1737384995 | CFTR,CFTR-AS1 | c.1584+18A= (n.1584+18A=) c.*1298+18A= (n.*1298+18A=) c.1401+18A= (n.1401+18A=) c.1602A= (p.Lys534=) c.*160A= (n.*160A=) c.*1408+18A= (n.*1408+18A=) c.1158+18A= (n.1158+18A=) c.1494+18A= (n.1494+18A=) n.18+18A= c.1674+18A= (n.1674+18A=) c.1341+18A= (n.1341+18A=) n.221+1060T= | |
7 | g.117559673A>C | CA832122250 | CFTR,CFTR-AS1 | c.1584+18A>C (n.1584+18A>C) c.*1298+18A>C (n.*1298+18A>C) c.1401+18A>C (n.1401+18A>C) c.1602A>C (p.Lys534Asn) c.*160A>C (n.*160A>C) c.*1408+18A>C (n.*1408+18A>C) c.1158+18A>C (n.1158+18A>C) c.1494+18A>C (n.1494+18A>C) n.18+18A>C c.1674+18A>C (n.1674+18A>C) c.1341+18A>C (n.1341+18A>C) n.221+1060T>G | ClinVar dbSNP |
7 | g.117559675C>A | CA2684618610 | CFTR,CFTR-AS1 | c.1584+20C>A (n.1584+20C>A) c.*1298+20C>A (n.*1298+20C>A) c.1401+20C>A (n.1401+20C>A) c.1604C>A (p.Thr535Asn) c.*162C>A (n.*162C>A) c.*1408+20C>A (n.*1408+20C>A) c.1158+20C>A (n.1158+20C>A) c.1494+20C>A (n.1494+20C>A) n.18+20C>A c.1674+20C>A (n.1674+20C>A) c.1341+20C>A (n.1341+20C>A) n.221+1058G>T | gnomAD v4 |
7 | g.117559676T>C | CA2777587148 | CFTR,CFTR-AS1 | c.1584+21T>C (n.1584+21T>C) c.*1298+21T>C (n.*1298+21T>C) c.1401+21T>C (n.1401+21T>C) c.1605T>C (p.Thr535=) c.*163T>C (n.*163T>C) c.*1408+21T>C (n.*1408+21T>C) c.1158+21T>C (n.1158+21T>C) c.1494+21T>C (n.1494+21T>C) n.18+21T>C c.1674+21T>C (n.1674+21T>C) c.1341+21T>C (n.1341+21T>C) n.221+1057A>G | |
7 | g.117559680del | CA2684618611 | CFTR,CFTR-AS1 | c.1584+25del (n.1584+25del) c.*1298+25del (n.*1298+25del) c.1401+25del (n.1401+25del) c.1609del (p.Ter537AspextTer?) c.*167del (n.*167del) c.*1408+25del (n.*1408+25del) c.1158+25del (n.1158+25del) c.1494+25del (n.1494+25del) n.18+25del c.1674+25del (n.1674+25del) c.1341+25del (n.1341+25del) n.221+1057del | gnomAD v4 |
7 | g.117559676_117559677insGAGAACAGAATGAAATTCTTCCAC | CA2535721287 | CFTR,CFTR-AS1 | c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC) c.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTCCAC (n.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTCCAC) c.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC (n.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC) c.1605_1606insGAGAACAGAATGAAATTCTTCCAC (p.Thr535_Phe536insGluAsnArgMetLysPhePheHis) c.*163_*164insGAGAACAGAATGAAATTCTTCCAC (n.*163_*164insGAGAACAGAATGAAATTCTTCCAC) c.*1408+21_*1408+22insGAGAACAGAATGAAATTCTTCCAC (n.*1408+21_*1408+22insGAGAACAGAATGAAATTCTTCCAC) c.1158+21_1158+22insGAGAACAGAATGAAATTCTTCCAC (n.1158+21_1158+22insGAGAACAGAATGAAATTCTTCCAC) c.1494+21_1494+22insGAGAACAGAATGAAATTCTTCCAC (n.1494+21_1494+22insGAGAACAGAATGAAATTCTTCCAC) n.18+21_18+22insGAGAACAGAATGAAATTCTTCCAC c.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC (n.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC) c.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC (n.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC) n.221+1056_221+1057insGTGGAAGAATTTCATTCTGTTCTC | |
7 | g.117559678T>C | CA2684618612 | CFTR,CFTR-AS1 | c.1584+23T>C (n.1584+23T>C) c.*1298+23T>C (n.*1298+23T>C) c.1401+23T>C (n.1401+23T>C) c.1607T>C (p.Phe536Ser) c.*165T>C (n.*165T>C) c.*1408+23T>C (n.*1408+23T>C) c.1158+23T>C (n.1158+23T>C) c.1494+23T>C (n.1494+23T>C) n.18+23T>C c.1674+23T>C (n.1674+23T>C) c.1341+23T>C (n.1341+23T>C) n.221+1055A>G | gnomAD v4 |
7 | g.117559680T>C | CA2684618613 | CFTR,CFTR-AS1 | c.1584+25T>C (n.1584+25T>C) c.*1298+25T>C (n.*1298+25T>C) c.1401+25T>C (n.1401+25T>C) c.1609T>C (p.Ter537Arg) c.*167T>C (n.*167T>C) c.*1408+25T>C (n.*1408+25T>C) c.1158+25T>C (n.1158+25T>C) c.1494+25T>C (n.1494+25T>C) n.18+25T>C c.1674+25T>C (n.1674+25T>C) c.1341+25T>C (n.1341+25T>C) n.221+1053A>G | gnomAD v4 |
7 | g.117559681G>A | CA2579000032 | CFTR,CFTR-AS1 | c.1584+26G>A (n.1584+26G>A) c.*1298+26G>A (n.*1298+26G>A) c.1401+26G>A (n.1401+26G>A) c.1610G>A (p.Ter537=) c.*168G>A (n.*168G>A) c.*1408+26G>A (n.*1408+26G>A) c.1158+26G>A (n.1158+26G>A) c.1494+26G>A (n.1494+26G>A) n.18+26G>A c.1674+26G>A (n.1674+26G>A) c.1341+26G>A (n.1341+26G>A) n.221+1052C>T | |
7 | g.117559681G>T | CA2684618614 | CFTR,CFTR-AS1 | c.1584+26G>T (n.1584+26G>T) c.*1298+26G>T (n.*1298+26G>T) c.1401+26G>T (n.1401+26G>T) c.1610G>T (p.Ter537Leu) c.*168G>T (n.*168G>T) c.*1408+26G>T (n.*1408+26G>T) c.1158+26G>T (n.1158+26G>T) c.1494+26G>T (n.1494+26G>T) n.18+26G>T c.1674+26G>T (n.1674+26G>T) c.1341+26G>T (n.1341+26G>T) n.221+1052C>A | gnomAD v4 |