UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559588_117559595delinsTCATCTTT | CA1737384633 | CFTR,CFTR-AS1 | c.1517_1524delinsTCATCTTT (p.Ile506=) c.*1231_*1238delinsTCATCTTT (n.*1231_*1238delinsTCATCTTT) c.1334_1341delinsTCATCTTT (p.Ile445=) c.*75_*82delinsTCATCTTT (n.*75_*82delinsTCATCTTT) c.*1341_*1348delinsTCATCTTT (n.*1341_*1348delinsTCATCTTT) c.1091_1098delinsTCATCTTT (p.Ile364=) c.1427_1434delinsTCATCTTT (p.Ile476=) c.1607_1614delinsTCATCTTT (p.Ile536=) c.1274_1281delinsTCATCTTT (p.Ile425=) n.221+1138_221+1145delinsAAAGATGA | |
| 7 | g.117559589_117559595del | CA918111823 | CFTR,CFTR-AS1 | c.1518_1524del (p.Ile506MetfsTer19) c.*1232_*1238del (n.*1232_*1238del) c.1335_1341del (p.Ile445MetfsTer19) c.*76_*82del (n.*76_*82del) c.*1342_*1348del (n.*1342_*1348del) c.1092_1098del (p.Ile364MetfsTer19) c.1428_1434del (p.Ile476MetfsTer19) c.1608_1614del (p.Ile536MetfsTer19) c.1275_1281del (p.Ile425MetfsTer19) n.221+1139_221+1145del | dbSNP |
| 7 | g.117559589_117559595delinsA | CA164967764 | CFTR,CFTR-AS1 | c.1518_1524delinsA (p.Ile507_Phe508del) c.*1232_*1238delinsA (n.*1232_*1238delinsA) c.1335_1341delinsA (p.Ile446_Phe447del) c.*76_*82delinsA (n.*76_*82delinsA) c.*1342_*1348delinsA (n.*1342_*1348delinsA) c.1092_1098delinsA (p.Ile365_Phe366del) c.1428_1434delinsA (p.Ile477_Phe478del) c.1608_1614delinsA (p.Ile537_Phe538del) c.1275_1281delinsA (p.Ile426_Phe427del) n.221+1138_221+1144delinsT | dbSNP |
| 7 | g.117559589_117559595delinsG | CA164967765 | CFTR,CFTR-AS1 | c.1518_1524delinsG (p.Ile506_Phe508delinsMet) c.*1232_*1238delinsG (n.*1232_*1238delinsG) c.1335_1341delinsG (p.Ile445_Phe447delinsMet) c.*76_*82delinsG (n.*76_*82delinsG) c.*1342_*1348delinsG (n.*1342_*1348delinsG) c.1092_1098delinsG (p.Ile364_Phe366delinsMet) c.1428_1434delinsG (p.Ile476_Phe478delinsMet) c.1608_1614delinsG (p.Ile536_Phe538delinsMet) c.1275_1281delinsG (p.Ile425_Phe427delinsMet) n.221+1138_221+1144delinsC | dbSNP |
| 7 | g.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.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.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= |