WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559535_117559547del | CA2573141543 | CFTR,CFTR-AS1 | c.1464_1476del (p.Cys491ProfsTer?) c.*1178_*1190del (n.*1178_*1190del) c.1281_1293del (p.Cys430ProfsTer?) c.*22_*34del (n.*22_*34del) c.*1288_*1300del (n.*1288_*1300del) c.1038_1050del (p.Cys349ProfsTer?) c.1374_1386del (p.Cys461ProfsTer?) c.1554_1566del (p.Cys521ProfsTer?) c.1221_1233del (p.Cys410ProfsTer?) n.221+1187_221+1199del | ClinVar dbSNP |
| 7 | g.117559543_117559553del | CA2580076300 | CFTR,CFTR-AS1 | c.1472_1482del (p.Cys491PhefsTer9) c.*1186_*1196del (n.*1186_*1196del) c.1289_1299del (p.Cys430PhefsTer9) c.*30_*40del (n.*30_*40del) c.*1296_*1306del (n.*1296_*1306del) c.1046_1056del (p.Cys349PhefsTer9) c.1382_1392del (p.Cys461PhefsTer9) c.1562_1572del (p.Cys521PhefsTer9) c.1229_1239del (p.Cys410PhefsTer9) n.221+1181_221+1191del | ClinVar |
| 7 | g.117559543G>A | CA368984526 | CFTR,CFTR-AS1 | c.1472G>A (p.Cys491Tyr) c.*1186G>A (n.*1186G>A) c.1289G>A (p.Cys430Tyr) c.*30G>A (n.*30G>A) c.*1296G>A (n.*1296G>A) c.1046G>A (p.Cys349Tyr) c.1382G>A (p.Cys461Tyr) c.1562G>A (p.Cys521Tyr) c.1229G>A (p.Cys410Tyr) n.221+1190C>T | gnomAD v4 |
| 7 | g.117559543G>C | CA368984527 | CFTR,CFTR-AS1 | c.1472G>C (p.Cys491Ser) c.*1186G>C (n.*1186G>C) c.1289G>C (p.Cys430Ser) c.*30G>C (n.*30G>C) c.*1296G>C (n.*1296G>C) c.1046G>C (p.Cys349Ser) c.1382G>C (p.Cys461Ser) c.1562G>C (p.Cys521Ser) c.1229G>C (p.Cys410Ser) n.221+1190C>G | ClinVar gnomAD v4 |
| 7 | g.117559543G= | CA1737384396 | CFTR,CFTR-AS1 | c.1472G= (p.Cys491=) c.*1186G= (n.*1186G=) c.1289G= (p.Cys430=) c.*30G= (n.*30G=) c.*1296G= (n.*1296G=) c.1046G= (p.Cys349=) c.1382G= (p.Cys461=) c.1562G= (p.Cys521=) c.1229G= (p.Cys410=) n.221+1190C= | |
| 7 | g.117559543G>T | CA4451010 | CFTR,CFTR-AS1 | c.1472G>T (p.Cys491Phe) c.*1186G>T (n.*1186G>T) c.1289G>T (p.Cys430Phe) c.*30G>T (n.*30G>T) c.*1296G>T (n.*1296G>T) c.1046G>T (p.Cys349Phe) c.1382G>T (p.Cys461Phe) c.1562G>T (p.Cys521Phe) c.1229G>T (p.Cys410Phe) n.221+1190C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559544T>A | CA368984529 | CFTR,CFTR-AS1 | c.1473T>A (p.Cys491Ter) c.*1187T>A (n.*1187T>A) c.1290T>A (p.Cys430Ter) c.*31T>A (n.*31T>A) c.*1297T>A (n.*1297T>A) c.1047T>A (p.Cys349Ter) c.1383T>A (p.Cys461Ter) c.1563T>A (p.Cys521Ter) c.1230T>A (p.Cys410Ter) n.221+1189A>T | |
| 7 | g.117559544T>C | CA457228805 | CFTR,CFTR-AS1 | c.1473T>C (p.Cys491=) c.*1187T>C (n.*1187T>C) c.1290T>C (p.Cys430=) c.*31T>C (n.*31T>C) c.*1297T>C (n.*1297T>C) c.1047T>C (p.Cys349=) c.1383T>C (p.Cys461=) c.1563T>C (p.Cys521=) c.1230T>C (p.Cys410=) n.221+1189A>G | COSMIC |
| 7 | g.117559544T>G | CA368984530 | CFTR,CFTR-AS1 | c.1473T>G (p.Cys491Trp) c.*1187T>G (n.*1187T>G) c.1290T>G (p.Cys430Trp) c.*31T>G (n.*31T>G) c.*1297T>G (n.*1297T>G) c.1047T>G (p.Cys349Trp) c.1383T>G (p.Cys461Trp) c.1563T>G (p.Cys521Trp) c.1230T>G (p.Cys410Trp) n.221+1189A>C | |
| 7 | g.117559545T>A | CA368984532 | CFTR,CFTR-AS1 | c.1474T>A (p.Ser492Thr) c.*1188T>A (n.*1188T>A) c.1291T>A (p.Ser431Thr) c.*32T>A (n.*32T>A) c.*1298T>A (n.*1298T>A) c.1048T>A (p.Ser350Thr) c.1384T>A (p.Ser462Thr) c.1564T>A (p.Ser522Thr) c.1231T>A (p.Ser411Thr) n.221+1188A>T | |
| 7 | g.117559545T>C | CA368984533 | CFTR,CFTR-AS1 | c.1474T>C (p.Ser492Pro) c.*1188T>C (n.*1188T>C) c.1291T>C (p.Ser431Pro) c.*32T>C (n.*32T>C) c.*1298T>C (n.*1298T>C) c.1048T>C (p.Ser350Pro) c.1384T>C (p.Ser462Pro) c.1564T>C (p.Ser522Pro) c.1231T>C (p.Ser411Pro) n.221+1188A>G | |
| 7 | g.117559545T>G | CA368984535 | CFTR,CFTR-AS1 | c.1474T>G (p.Ser492Ala) c.*1188T>G (n.*1188T>G) c.1291T>G (p.Ser431Ala) c.*32T>G (n.*32T>G) c.*1298T>G (n.*1298T>G) c.1048T>G (p.Ser350Ala) c.1384T>G (p.Ser462Ala) c.1564T>G (p.Ser522Ala) c.1231T>G (p.Ser411Ala) n.221+1188A>C | |
| 7 | g.117559546C>A | CA368984536 | CFTR,CFTR-AS1 | c.1475C>A (p.Ser492Tyr) c.*1189C>A (n.*1189C>A) c.1292C>A (p.Ser431Tyr) c.*33C>A (n.*33C>A) c.*1299C>A (n.*1299C>A) c.1049C>A (p.Ser350Tyr) c.1385C>A (p.Ser462Tyr) c.1565C>A (p.Ser522Tyr) c.1232C>A (p.Ser411Tyr) n.221+1187G>T | |
| 7 | g.117559546C= | CA1737384406 | CFTR,CFTR-AS1 | c.1475C= (p.Ser492=) c.*1189C= (n.*1189C=) c.1292C= (p.Ser431=) c.*33C= (n.*33C=) c.*1299C= (n.*1299C=) c.1049C= (p.Ser350=) c.1385C= (p.Ser462=) c.1565C= (p.Ser522=) c.1232C= (p.Ser411=) n.221+1187G= | |
| 7 | g.117559546C>G | CA368984537 | CFTR,CFTR-AS1 | c.1475C>G (p.Ser492Cys) c.*1189C>G (n.*1189C>G) c.1292C>G (p.Ser431Cys) c.*33C>G (n.*33C>G) c.*1299C>G (n.*1299C>G) c.1049C>G (p.Ser350Cys) c.1385C>G (p.Ser462Cys) c.1565C>G (p.Ser522Cys) c.1232C>G (p.Ser411Cys) n.221+1187G>C | |
| 7 | g.117559546C>T | CA325551 | CFTR,CFTR-AS1 | c.1475C>T (p.Ser492Phe) c.*1189C>T (n.*1189C>T) c.1292C>T (p.Ser431Phe) c.*33C>T (n.*33C>T) c.*1299C>T (n.*1299C>T) c.1049C>T (p.Ser350Phe) c.1385C>T (p.Ser462Phe) c.1565C>T (p.Ser522Phe) c.1232C>T (p.Ser411Phe) n.221+1187G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117559547T>A | CA457228809 | CFTR,CFTR-AS1 | c.1476T>A (p.Ser492=) c.*1190T>A (n.*1190T>A) c.1293T>A (p.Ser431=) c.*34T>A (n.*34T>A) c.*1300T>A (n.*1300T>A) c.1050T>A (p.Ser350=) c.1386T>A (p.Ser462=) c.1566T>A (p.Ser522=) c.1233T>A (p.Ser411=) n.221+1186A>T | |
| 7 | g.117559547T>C | CA457228806 | CFTR,CFTR-AS1 | c.1476T>C (p.Ser492=) c.*1190T>C (n.*1190T>C) c.1293T>C (p.Ser431=) c.*34T>C (n.*34T>C) c.*1300T>C (n.*1300T>C) c.1050T>C (p.Ser350=) c.1386T>C (p.Ser462=) c.1566T>C (p.Ser522=) c.1233T>C (p.Ser411=) n.221+1186A>G | gnomAD v4 |
| 7 | g.117559547T>G | CA457228808 | CFTR,CFTR-AS1 | c.1476T>G (p.Ser492=) c.*1190T>G (n.*1190T>G) c.1293T>G (p.Ser431=) c.*34T>G (n.*34T>G) c.*1300T>G (n.*1300T>G) c.1050T>G (p.Ser350=) c.1386T>G (p.Ser462=) c.1566T>G (p.Ser522=) c.1233T>G (p.Ser411=) n.221+1186A>C | |
| 7 | g.117559547_117559549delinsTCA | CA1737384413 | CFTR,CFTR-AS1 | c.1476_1478delinsTCA (p.Ser492=) c.*1190_*1192delinsTCA (n.*1190_*1192delinsTCA) c.1293_1295delinsTCA (p.Ser431=) c.*34_*36delinsTCA (n.*34_*36delinsTCA) c.*1300_*1302delinsTCA (n.*1300_*1302delinsTCA) c.1050_1052delinsTCA (p.Ser350=) c.1386_1388delinsTCA (p.Ser462=) c.1566_1568delinsTCA (p.Ser522=) c.1233_1235delinsTCA (p.Ser411=) n.221+1184_221+1186delinsTGA | |
| 7 | g.117559548C>A | CA368984539 | CFTR,CFTR-AS1 | c.1477C>A (p.Gln493Lys) c.*1191C>A (n.*1191C>A) c.1294C>A (p.Gln432Lys) c.*35C>A (n.*35C>A) c.*1301C>A (n.*1301C>A) c.1051C>A (p.Gln351Lys) c.1387C>A (p.Gln463Lys) c.1567C>A (p.Gln523Lys) c.1234C>A (p.Gln412Lys) n.221+1185G>T | gnomAD v4 |
| 7 | g.117559548C= | CA1737384422 | CFTR,CFTR-AS1 | c.1477C= (p.Gln493=) c.*1191C= (n.*1191C=) c.1294C= (p.Gln432=) c.*35C= (n.*35C=) c.*1301C= (n.*1301C=) c.1051C= (p.Gln351=) c.1387C= (p.Gln463=) c.1567C= (p.Gln523=) c.1234C= (p.Gln412=) n.221+1185G= | |
| 7 | g.117559548C>G | CA368984540 | CFTR,CFTR-AS1 | c.1477C>G (p.Gln493Glu) c.*1191C>G (n.*1191C>G) c.1294C>G (p.Gln432Glu) c.*35C>G (n.*35C>G) c.*1301C>G (n.*1301C>G) c.1051C>G (p.Gln351Glu) c.1387C>G (p.Gln463Glu) c.1567C>G (p.Gln523Glu) c.1234C>G (p.Gln412Glu) n.221+1185G>C | |
| 7 | g.117559548C>T | CA325518 | CFTR,CFTR-AS1 | c.1477C>T (p.Gln493Ter) c.*1191C>T (n.*1191C>T) c.1294C>T (p.Gln432Ter) c.*35C>T (n.*35C>T) c.*1301C>T (n.*1301C>T) c.1051C>T (p.Gln351Ter) c.1387C>T (p.Gln463Ter) c.1567C>T (p.Gln523Ter) c.1234C>T (p.Gln412Ter) n.221+1185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559548_117559549del | CA325605 | CFTR,CFTR-AS1 | c.1477_1478del (p.Gln493ValfsTer10) c.*1191_*1192del (n.*1191_*1192del) c.1294_1295del (p.Gln432ValfsTer10) c.*35_*36del (n.*35_*36del) c.*1301_*1302del (n.*1301_*1302del) c.1051_1052del (p.Gln351ValfsTer10) c.1387_1388del (p.Gln463ValfsTer10) c.1567_1568del (p.Gln523ValfsTer10) c.1234_1235del (p.Gln412ValfsTer10) n.221+1184_221+1185del | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559549A= | CA1737384430 | CFTR,CFTR-AS1 | c.1478A= (p.Gln493=) c.*1192A= (n.*1192A=) c.1295A= (p.Gln432=) c.*36A= (n.*36A=) c.*1302A= (n.*1302A=) c.1052A= (p.Gln351=) c.1388A= (p.Gln463=) c.1568A= (p.Gln523=) c.1235A= (p.Gln412=) n.221+1184T= | |
| 7 | g.117559549A>C | CA326496 | CFTR,CFTR-AS1 | c.1478A>C (p.Gln493Pro) c.*1192A>C (n.*1192A>C) c.1295A>C (p.Gln432Pro) c.*36A>C (n.*36A>C) c.*1302A>C (n.*1302A>C) c.1052A>C (p.Gln351Pro) c.1388A>C (p.Gln463Pro) c.1568A>C (p.Gln523Pro) c.1235A>C (p.Gln412Pro) n.221+1184T>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117559549A>G | CA326498 | CFTR,CFTR-AS1 | c.1478A>G (p.Gln493Arg) c.*1192A>G (n.*1192A>G) c.1295A>G (p.Gln432Arg) c.*36A>G (n.*36A>G) c.*1302A>G (n.*1302A>G) c.1052A>G (p.Gln351Arg) c.1388A>G (p.Gln463Arg) c.1568A>G (p.Gln523Arg) c.1235A>G (p.Gln412Arg) n.221+1184T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559549A>T | CA368984544 | CFTR,CFTR-AS1 | c.1478A>T (p.Gln493Leu) c.*1192A>T (n.*1192A>T) c.1295A>T (p.Gln432Leu) c.*36A>T (n.*36A>T) c.*1302A>T (n.*1302A>T) c.1052A>T (p.Gln351Leu) c.1388A>T (p.Gln463Leu) c.1568A>T (p.Gln523Leu) c.1235A>T (p.Gln412Leu) n.221+1184T>A | ClinVar dbSNP |
| 7 | g.117559550G>A | CA457228811 | CFTR,CFTR-AS1 | c.1479G>A (p.Gln493=) c.*1193G>A (n.*1193G>A) c.1296G>A (p.Gln432=) c.*37G>A (n.*37G>A) c.*1303G>A (n.*1303G>A) c.1053G>A (p.Gln351=) c.1389G>A (p.Gln463=) c.1569G>A (p.Gln523=) c.1236G>A (p.Gln412=) n.221+1183C>T | ClinVar |
| 7 | g.117559550G>C | CA368984545 | CFTR,CFTR-AS1 | c.1479G>C (p.Gln493His) c.*1193G>C (n.*1193G>C) c.1296G>C (p.Gln432His) c.*37G>C (n.*37G>C) c.*1303G>C (n.*1303G>C) c.1053G>C (p.Gln351His) c.1389G>C (p.Gln463His) c.1569G>C (p.Gln523His) c.1236G>C (p.Gln412His) n.221+1183C>G | ClinVar dbSNP |
| 7 | g.117559550G= | CA1737384441 | CFTR,CFTR-AS1 | c.1479G= (p.Gln493=) c.*1193G= (n.*1193G=) c.1296G= (p.Gln432=) c.*37G= (n.*37G=) c.*1303G= (n.*1303G=) c.1053G= (p.Gln351=) c.1389G= (p.Gln463=) c.1569G= (p.Gln523=) c.1236G= (p.Gln412=) n.221+1183C= | |
| 7 | g.117559550G>T | CA368984546 | CFTR,CFTR-AS1 | c.1479G>T (p.Gln493His) c.*1193G>T (n.*1193G>T) c.1296G>T (p.Gln432His) c.*37G>T (n.*37G>T) c.*1303G>T (n.*1303G>T) c.1053G>T (p.Gln351His) c.1389G>T (p.Gln463His) c.1569G>T (p.Gln523His) c.1236G>T (p.Gln412His) n.221+1183C>A | |
| 7 | g.117559550_117559552delinsGTT | CA1737384442 | CFTR,CFTR-AS1 | c.1479_1481delinsGTT (p.Gln493=) c.*1193_*1195delinsGTT (n.*1193_*1195delinsGTT) c.1296_1298delinsGTT (p.Gln432=) c.*37_*39delinsGTT (n.*37_*39delinsGTT) c.*1303_*1305delinsGTT (n.*1303_*1305delinsGTT) c.1053_1055delinsGTT (p.Gln351=) c.1389_1391delinsGTT (p.Gln463=) c.1569_1571delinsGTT (p.Gln523=) c.1236_1238delinsGTT (p.Gln412=) n.221+1181_221+1183delinsAAC | |
| 7 | g.117559550_117559565delinsCCTT | CA2695208321 | CFTR,CFTR-AS1 | c.1479_1494delinsCCTT (p.Gln493_Met498delinsHisLeu) c.*1193_*1208delinsCCTT (n.*1193_*1208delinsCCTT) c.1296_1311delinsCCTT (p.Gln432_Met437delinsHisLeu) c.*37_*52delinsCCTT (n.*37_*52delinsCCTT) c.*1303_*1318delinsCCTT (n.*1303_*1318delinsCCTT) c.1053_1068delinsCCTT (p.Gln351_Met356delinsHisLeu) c.1389_1404delinsCCTT (p.Gln463_Met468delinsHisLeu) c.1569_1584delinsCCTT (p.Gln523_Met528delinsHisLeu) c.1236_1251delinsCCTT (p.Gln412_Met417delinsHisLeu) n.221+1168_221+1183delinsAAGG | |
| 7 | g.117559551T>A | CA368984548 | CFTR,CFTR-AS1 | c.1480T>A (p.Phe494Ile) c.*1194T>A (n.*1194T>A) c.1297T>A (p.Phe433Ile) c.*38T>A (n.*38T>A) c.*1304T>A (n.*1304T>A) c.1054T>A (p.Phe352Ile) c.1390T>A (p.Phe464Ile) c.1570T>A (p.Phe524Ile) c.1237T>A (p.Phe413Ile) n.221+1182A>T | |
| 7 | g.117559551T>C | CA368984549 | CFTR,CFTR-AS1 | c.1480T>C (p.Phe494Leu) c.*1194T>C (n.*1194T>C) c.1297T>C (p.Phe433Leu) c.*38T>C (n.*38T>C) c.*1304T>C (n.*1304T>C) c.1054T>C (p.Phe352Leu) c.1390T>C (p.Phe464Leu) c.1570T>C (p.Phe524Leu) c.1237T>C (p.Phe413Leu) n.221+1182A>G | |
| 7 | g.117559551T>G | CA368984551 | CFTR,CFTR-AS1 | c.1480T>G (p.Phe494Val) c.*1194T>G (n.*1194T>G) c.1297T>G (p.Phe433Val) c.*38T>G (n.*38T>G) c.*1304T>G (n.*1304T>G) c.1054T>G (p.Phe352Val) c.1390T>G (p.Phe464Val) c.1570T>G (p.Phe524Val) c.1237T>G (p.Phe413Val) n.221+1182A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559551T= | CA1737384445 | CFTR,CFTR-AS1 | c.1480T= (p.Phe494=) c.*1194T= (n.*1194T=) c.1297T= (p.Phe433=) c.*38T= (n.*38T=) c.*1304T= (n.*1304T=) c.1054T= (p.Phe352=) c.1390T= (p.Phe464=) c.1570T= (p.Phe524=) c.1237T= (p.Phe413=) n.221+1182A= | |
| 7 | g.117559554del | CA2580076302 | CFTR,CFTR-AS1 | c.1483del (p.Ser495ProfsTer?) c.*1197del (n.*1197del) c.1300del (p.Ser434ProfsTer?) c.*41del (n.*41del) c.*1307del (n.*1307del) c.1057del (p.Ser353ProfsTer?) c.1393del (p.Ser465ProfsTer?) c.1573del (p.Ser525ProfsTer?) c.1240del (p.Ser414ProfsTer?) n.221+1182del | ClinVar |
| 7 | g.117559553_117559554del | CA326500 | CFTR,CFTR-AS1 | c.1482_1483del (p.Ser495LeufsTer8) c.*1196_*1197del (n.*1196_*1197del) c.1299_1300del (p.Ser434LeufsTer8) c.*40_*41del (n.*40_*41del) c.*1306_*1307del (n.*1306_*1307del) c.1056_1057del (p.Ser353LeufsTer8) c.1392_1393del (p.Ser465LeufsTer8) c.1572_1573del (p.Ser525LeufsTer8) c.1239_1240del (p.Ser414LeufsTer8) n.221+1181_221+1182del | dbSNP |
| 7 | g.117559552T>A | CA368984552 | CFTR,CFTR-AS1 | c.1481T>A (p.Phe494Tyr) c.*1195T>A (n.*1195T>A) c.1298T>A (p.Phe433Tyr) c.*39T>A (n.*39T>A) c.*1305T>A (n.*1305T>A) c.1055T>A (p.Phe352Tyr) c.1391T>A (p.Phe464Tyr) c.1571T>A (p.Phe524Tyr) c.1238T>A (p.Phe413Tyr) n.221+1181A>T | |
| 7 | g.117559552T>C | CA368984554 | CFTR,CFTR-AS1 | c.1481T>C (p.Phe494Ser) c.*1195T>C (n.*1195T>C) c.1298T>C (p.Phe433Ser) c.*39T>C (n.*39T>C) c.*1305T>C (n.*1305T>C) c.1055T>C (p.Phe352Ser) c.1391T>C (p.Phe464Ser) c.1571T>C (p.Phe524Ser) c.1238T>C (p.Phe413Ser) n.221+1181A>G | |
| 7 | g.117559552T>G | CA368984555 | CFTR,CFTR-AS1 | c.1481T>G (p.Phe494Cys) c.*1195T>G (n.*1195T>G) c.1298T>G (p.Phe433Cys) c.*39T>G (n.*39T>G) c.*1305T>G (n.*1305T>G) c.1055T>G (p.Phe352Cys) c.1391T>G (p.Phe464Cys) c.1571T>G (p.Phe524Cys) c.1238T>G (p.Phe413Cys) n.221+1181A>C | |
| 7 | g.117559553T>A | CA368984557 | CFTR,CFTR-AS1 | c.1482T>A (p.Phe494Leu) c.*1196T>A (n.*1196T>A) c.1299T>A (p.Phe433Leu) c.*40T>A (n.*40T>A) c.*1306T>A (n.*1306T>A) c.1056T>A (p.Phe352Leu) c.1392T>A (p.Phe464Leu) c.1572T>A (p.Phe524Leu) c.1239T>A (p.Phe413Leu) n.221+1180A>T | |
| 7 | g.117559553T>C | CA457228814 | CFTR,CFTR-AS1 | c.1482T>C (p.Phe494=) c.*1196T>C (n.*1196T>C) c.1299T>C (p.Phe433=) c.*40T>C (n.*40T>C) c.*1306T>C (n.*1306T>C) c.1056T>C (p.Phe352=) c.1392T>C (p.Phe464=) c.1572T>C (p.Phe524=) c.1239T>C (p.Phe413=) n.221+1180A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559553T>G | CA368984558 | CFTR,CFTR-AS1 | c.1482T>G (p.Phe494Leu) c.*1196T>G (n.*1196T>G) c.1299T>G (p.Phe433Leu) c.*40T>G (n.*40T>G) c.*1306T>G (n.*1306T>G) c.1056T>G (p.Phe352Leu) c.1392T>G (p.Phe464Leu) c.1572T>G (p.Phe524Leu) c.1239T>G (p.Phe413Leu) n.221+1180A>C | |
| 7 | g.117559553T= | CA1737384450 | CFTR,CFTR-AS1 | c.1482T= (p.Phe494=) c.*1196T= (n.*1196T=) c.1299T= (p.Phe433=) c.*40T= (n.*40T=) c.*1306T= (n.*1306T=) c.1056T= (p.Phe352=) c.1392T= (p.Phe464=) c.1572T= (p.Phe524=) c.1239T= (p.Phe413=) n.221+1180A= | |
| 7 | g.117559554T>A | CA368984560 | CFTR,CFTR-AS1 | c.1483T>A (p.Ser495Thr) c.*1197T>A (n.*1197T>A) c.1300T>A (p.Ser434Thr) c.*41T>A (n.*41T>A) c.*1307T>A (n.*1307T>A) c.1057T>A (p.Ser353Thr) c.1393T>A (p.Ser465Thr) c.1573T>A (p.Ser525Thr) c.1240T>A (p.Ser414Thr) n.221+1179A>T | |
| 7 | g.117559554T>C | CA368984562 | CFTR,CFTR-AS1 | c.1483T>C (p.Ser495Pro) c.*1197T>C (n.*1197T>C) c.1300T>C (p.Ser434Pro) c.*41T>C (n.*41T>C) c.*1307T>C (n.*1307T>C) c.1057T>C (p.Ser353Pro) c.1393T>C (p.Ser465Pro) c.1573T>C (p.Ser525Pro) c.1240T>C (p.Ser414Pro) n.221+1179A>G |