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.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.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 |