Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559535_117559547delCA2573141543CFTR,CFTR-AS1c.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
7g.117559539_117559541delinsTTCCA1737384359CFTR,CFTR-AS1c.1468_1470delinsTTC (p.Phe490=)
c.*1182_*1184delinsTTC (n.*1182_*1184delinsTTC)
c.1285_1287delinsTTC (p.Phe429=)
c.*26_*28delinsTTC (n.*26_*28delinsTTC)
c.*1292_*1294delinsTTC (n.*1292_*1294delinsTTC)
c.1042_1044delinsTTC (p.Phe348=)
c.1378_1380delinsTTC (p.Phe460=)
c.1558_1560delinsTTC (p.Phe520=)
c.1225_1227delinsTTC (p.Phe409=)
n.221+1192_221+1194delinsGAA
7g.117559539_117559542delCA2695199619CFTR,CFTR-AS1c.1468_1471del (p.Phe490ValfsTer?)
c.*1182_*1185del (n.*1182_*1185del)
c.1285_1288del (p.Phe429ValfsTer?)
c.*26_*29del (n.*26_*29del)
c.*1292_*1295del (n.*1292_*1295del)
c.1042_1045del (p.Phe348ValfsTer?)
c.1378_1381del (p.Phe460ValfsTer?)
c.1558_1561del (p.Phe520ValfsTer?)
c.1225_1228del (p.Phe409ValfsTer?)
n.221+1191_221+1194del
 ClinVar
7g.117559541_117559542delCA326493CFTR,CFTR-AS1c.1470_1471del (p.Phe490LeufsTer13)
c.*1184_*1185del (n.*1184_*1185del)
c.1287_1288del (p.Phe429LeufsTer13)
c.*28_*29del (n.*28_*29del)
c.*1294_*1295del (n.*1294_*1295del)
c.1044_1045del (p.Phe348LeufsTer13)
c.1380_1381del (p.Phe460LeufsTer13)
c.1560_1561del (p.Phe520LeufsTer13)
c.1227_1228del (p.Phe409LeufsTer13)
n.221+1192_221+1193del
 dbSNP gnomAD v4
7g.117559541C>ACA368984519CFTR,CFTR-AS1c.1470C>A (p.Phe490Leu)
c.*1184C>A (n.*1184C>A)
c.1287C>A (p.Phe429Leu)
c.*28C>A (n.*28C>A)
c.*1294C>A (n.*1294C>A)
c.1044C>A (p.Phe348Leu)
c.1380C>A (p.Phe460Leu)
c.1560C>A (p.Phe520Leu)
c.1227C>A (p.Phe409Leu)
n.221+1192G>T
7g.117559541C=CA1737384375CFTR,CFTR-AS1c.1470C= (p.Phe490=)
c.*1184C= (n.*1184C=)
c.1287C= (p.Phe429=)
c.*28C= (n.*28C=)
c.*1294C= (n.*1294C=)
c.1044C= (p.Phe348=)
c.1380C= (p.Phe460=)
c.1560C= (p.Phe520=)
c.1227C= (p.Phe409=)
n.221+1192G=
7g.117559541C>GCA368984520CFTR,CFTR-AS1c.1470C>G (p.Phe490Leu)
c.*1184C>G (n.*1184C>G)
c.1287C>G (p.Phe429Leu)
c.*28C>G (n.*28C>G)
c.*1294C>G (n.*1294C>G)
c.1044C>G (p.Phe348Leu)
c.1380C>G (p.Phe460Leu)
c.1560C>G (p.Phe520Leu)
c.1227C>G (p.Phe409Leu)
n.221+1192G>C
7g.117559541C>TCA457228801CFTR,CFTR-AS1c.1470C>T (p.Phe490=)
c.*1184C>T (n.*1184C>T)
c.1287C>T (p.Phe429=)
c.*28C>T (n.*28C>T)
c.*1294C>T (n.*1294C>T)
c.1044C>T (p.Phe348=)
c.1380C>T (p.Phe460=)
c.1560C>T (p.Phe520=)
c.1227C>T (p.Phe409=)
n.221+1192G>A
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117559542T>ACA368984522CFTR,CFTR-AS1c.1471T>A (p.Cys491Ser)
c.*1185T>A (n.*1185T>A)
c.1288T>A (p.Cys430Ser)
c.*29T>A (n.*29T>A)
c.*1295T>A (n.*1295T>A)
c.1045T>A (p.Cys349Ser)
c.1381T>A (p.Cys461Ser)
c.1561T>A (p.Cys521Ser)
c.1228T>A (p.Cys410Ser)
n.221+1191A>T
7g.117559542T>CCA326494CFTR,CFTR-AS1c.1471T>C (p.Cys491Arg)
c.*1185T>C (n.*1185T>C)
c.1288T>C (p.Cys430Arg)
c.*29T>C (n.*29T>C)
c.*1295T>C (n.*1295T>C)
c.1045T>C (p.Cys349Arg)
c.1381T>C (p.Cys461Arg)
c.1561T>C (p.Cys521Arg)
c.1228T>C (p.Cys410Arg)
n.221+1191A>G
 ClinVar dbSNP
7g.117559542T>GCA368984524CFTR,CFTR-AS1c.1471T>G (p.Cys491Gly)
c.*1185T>G (n.*1185T>G)
c.1288T>G (p.Cys430Gly)
c.*29T>G (n.*29T>G)
c.*1295T>G (n.*1295T>G)
c.1045T>G (p.Cys349Gly)
c.1381T>G (p.Cys461Gly)
c.1561T>G (p.Cys521Gly)
c.1228T>G (p.Cys410Gly)
n.221+1191A>C
7g.117559542T=CA1737384382CFTR,CFTR-AS1c.1471T= (p.Cys491=)
c.*1185T= (n.*1185T=)
c.1288T= (p.Cys430=)
c.*29T= (n.*29T=)
c.*1295T= (n.*1295T=)
c.1045T= (p.Cys349=)
c.1381T= (p.Cys461=)
c.1561T= (p.Cys521=)
c.1228T= (p.Cys410=)
n.221+1191A=
7g.117559543_117559553delCA2580076300CFTR,CFTR-AS1c.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
7g.117559543G>ACA368984526CFTR,CFTR-AS1c.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
7g.117559543G>CCA368984527CFTR,CFTR-AS1c.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
7g.117559543G=CA1737384396CFTR,CFTR-AS1c.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=
7g.117559543G>TCA4451010CFTR,CFTR-AS1c.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
7g.117559544T>ACA368984529CFTR,CFTR-AS1c.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
7g.117559544T>CCA457228805CFTR,CFTR-AS1c.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
7g.117559544T>GCA368984530CFTR,CFTR-AS1c.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
7g.117559545T>ACA368984532CFTR,CFTR-AS1c.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
7g.117559545T>CCA368984533CFTR,CFTR-AS1c.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
7g.117559545T>GCA368984535CFTR,CFTR-AS1c.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
7g.117559546C>ACA368984536CFTR,CFTR-AS1c.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
7g.117559546C=CA1737384406CFTR,CFTR-AS1c.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=
7g.117559546C>GCA368984537CFTR,CFTR-AS1c.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
7g.117559546C>TCA325551CFTR,CFTR-AS1c.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
7g.117559547T>ACA457228809CFTR,CFTR-AS1c.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
7g.117559547T>CCA457228806CFTR,CFTR-AS1c.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
7g.117559547T>GCA457228808CFTR,CFTR-AS1c.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
7g.117559547_117559549delinsTCACA1737384413CFTR,CFTR-AS1c.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
7g.117559548C>ACA368984539CFTR,CFTR-AS1c.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
7g.117559548C=CA1737384422CFTR,CFTR-AS1c.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=
7g.117559548C>GCA368984540CFTR,CFTR-AS1c.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
7g.117559548C>TCA325518CFTR,CFTR-AS1c.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
7g.117559548_117559549delCA325605CFTR,CFTR-AS1c.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
7g.117559549A=CA1737384430CFTR,CFTR-AS1c.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=
7g.117559549A>CCA326496CFTR,CFTR-AS1c.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
7g.117559549A>GCA326498CFTR,CFTR-AS1c.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
7g.117559549A>TCA368984544CFTR,CFTR-AS1c.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
7g.117559550G>ACA457228811CFTR,CFTR-AS1c.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
7g.117559550G>CCA368984545CFTR,CFTR-AS1c.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
7g.117559550G=CA1737384441CFTR,CFTR-AS1c.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=
7g.117559550G>TCA368984546CFTR,CFTR-AS1c.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
7g.117559550_117559552delinsGTTCA1737384442CFTR,CFTR-AS1c.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
7g.117559550_117559565delinsCCTTCA2695208321CFTR,CFTR-AS1c.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
7g.117559551T>ACA368984548CFTR,CFTR-AS1c.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
7g.117559551T>CCA368984549CFTR,CFTR-AS1c.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
7g.117559551T>GCA368984551CFTR,CFTR-AS1c.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
7g.117559551T=CA1737384445CFTR,CFTR-AS1c.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=

Number of alleles fetched