Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559536_117559540delCA2573141542CFTR,CFTR-AS1c.1465_1469del (p.Ser489LeufsTer13)
c.*1179_*1183del (n.*1179_*1183del)
c.1282_1286del (p.Ser428LeufsTer13)
c.*23_*27del (n.*23_*27del)
c.*1289_*1293del (n.*1289_*1293del)
c.1039_1043del (p.Ser347LeufsTer13)
c.1375_1379del (p.Ser459LeufsTer13)
c.1555_1559del (p.Ser519LeufsTer13)
c.1222_1226del (p.Ser408LeufsTer13)
n.221+1196_221+1200del
 ClinVar dbSNP
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.117559540delCA4451008CFTR,CFTR-AS1c.1469del (p.Phe490SerfsTer?)
c.*1183del (n.*1183del)
c.1286del (p.Phe429SerfsTer?)
c.*27del (n.*27del)
c.*1293del (n.*1293del)
c.1043del (p.Phe348SerfsTer?)
c.1379del (p.Phe460SerfsTer?)
c.1559del (p.Phe520SerfsTer?)
c.1226del (p.Phe409SerfsTer?)
n.221+1194del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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.117559540T>ACA368984517CFTR,CFTR-AS1c.1469T>A (p.Phe490Tyr)
c.*1183T>A (n.*1183T>A)
c.1286T>A (p.Phe429Tyr)
c.*27T>A (n.*27T>A)
c.*1293T>A (n.*1293T>A)
c.1043T>A (p.Phe348Tyr)
c.1379T>A (p.Phe460Tyr)
c.1559T>A (p.Phe520Tyr)
c.1226T>A (p.Phe409Tyr)
n.221+1193A>T
7g.117559540T>CCA368984516CFTR,CFTR-AS1c.1469T>C (p.Phe490Ser)
c.*1183T>C (n.*1183T>C)
c.1286T>C (p.Phe429Ser)
c.*27T>C (n.*27T>C)
c.*1293T>C (n.*1293T>C)
c.1043T>C (p.Phe348Ser)
c.1379T>C (p.Phe460Ser)
c.1559T>C (p.Phe520Ser)
c.1226T>C (p.Phe409Ser)
n.221+1193A>G
7g.117559540T>GCA4451009CFTR,CFTR-AS1c.1469T>G (p.Phe490Cys)
c.*1183T>G (n.*1183T>G)
c.1286T>G (p.Phe429Cys)
c.*27T>G (n.*27T>G)
c.*1293T>G (n.*1293T>G)
c.1043T>G (p.Phe348Cys)
c.1379T>G (p.Phe460Cys)
c.1559T>G (p.Phe520Cys)
c.1226T>G (p.Phe409Cys)
n.221+1193A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559540T=CA1737384367CFTR,CFTR-AS1c.1469T= (p.Phe490=)
c.*1183T= (n.*1183T=)
c.1286T= (p.Phe429=)
c.*27T= (n.*27T=)
c.*1293T= (n.*1293T=)
c.1043T= (p.Phe348=)
c.1379T= (p.Phe460=)
c.1559T= (p.Phe520=)
c.1226T= (p.Phe409=)
n.221+1193A=
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=
7g.117559554delCA2580076302CFTR,CFTR-AS1c.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
7g.117559553_117559554delCA326500CFTR,CFTR-AS1c.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
7g.117559552T>ACA368984552CFTR,CFTR-AS1c.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
7g.117559552T>CCA368984554CFTR,CFTR-AS1c.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
7g.117559552T>GCA368984555CFTR,CFTR-AS1c.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
7g.117559553T>ACA368984557CFTR,CFTR-AS1c.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
7g.117559553T>CCA457228814CFTR,CFTR-AS1c.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
7g.117559553T>GCA368984558CFTR,CFTR-AS1c.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
7g.117559553T=CA1737384450CFTR,CFTR-AS1c.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=
7g.117559554T>ACA368984560CFTR,CFTR-AS1c.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
7g.117559554T>CCA368984562CFTR,CFTR-AS1c.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
7g.117559554T>GCA368984563CFTR,CFTR-AS1c.1483T>G (p.Ser495Ala)
c.*1197T>G (n.*1197T>G)
c.1300T>G (p.Ser434Ala)
c.*41T>G (n.*41T>G)
c.*1307T>G (n.*1307T>G)
c.1057T>G (p.Ser353Ala)
c.1393T>G (p.Ser465Ala)
c.1573T>G (p.Ser525Ala)
c.1240T>G (p.Ser414Ala)
n.221+1179A>C
 dbSNP
7g.117559554T=CA1737384452CFTR,CFTR-AS1c.1483T= (p.Ser495=)
c.*1197T= (n.*1197T=)
c.1300T= (p.Ser434=)
c.*41T= (n.*41T=)
c.*1307T= (n.*1307T=)
c.1057T= (p.Ser353=)
c.1393T= (p.Ser465=)
c.1573T= (p.Ser525=)
c.1240T= (p.Ser414=)
n.221+1179A=
7g.117559555C>ACA368984566CFTR,CFTR-AS1c.1484C>A (p.Ser495Tyr)
c.*1198C>A (n.*1198C>A)
c.1301C>A (p.Ser434Tyr)
c.*42C>A (n.*42C>A)
c.*1308C>A (n.*1308C>A)
c.1058C>A (p.Ser353Tyr)
c.1394C>A (p.Ser465Tyr)
c.1574C>A (p.Ser525Tyr)
c.1241C>A (p.Ser414Tyr)
n.221+1178G>T
 ClinVar
7g.117559555C=CA1737384457CFTR,CFTR-AS1c.1484C= (p.Ser495=)
c.*1198C= (n.*1198C=)
c.1301C= (p.Ser434=)
c.*42C= (n.*42C=)
c.*1308C= (n.*1308C=)
c.1058C= (p.Ser353=)
c.1394C= (p.Ser465=)
c.1574C= (p.Ser525=)
c.1241C= (p.Ser414=)
n.221+1178G=
7g.117559555C>GCA368984567CFTR,CFTR-AS1c.1484C>G (p.Ser495Cys)
c.*1198C>G (n.*1198C>G)
c.1301C>G (p.Ser434Cys)
c.*42C>G (n.*42C>G)
c.*1308C>G (n.*1308C>G)
c.1058C>G (p.Ser353Cys)
c.1394C>G (p.Ser465Cys)
c.1574C>G (p.Ser525Cys)
c.1241C>G (p.Ser414Cys)
n.221+1178G>C
 ClinVar
7g.117559555C>TCA164967725CFTR,CFTR-AS1c.1484C>T (p.Ser495Phe)
c.*1198C>T (n.*1198C>T)
c.1301C>T (p.Ser434Phe)
c.*42C>T (n.*42C>T)
c.*1308C>T (n.*1308C>T)
c.1058C>T (p.Ser353Phe)
c.1394C>T (p.Ser465Phe)
c.1574C>T (p.Ser525Phe)
c.1241C>T (p.Ser414Phe)
n.221+1178G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117559556C>ACA457228819CFTR,CFTR-AS1c.1485C>A (p.Ser495=)
c.*1199C>A (n.*1199C>A)
c.1302C>A (p.Ser434=)
c.*43C>A (n.*43C>A)
c.*1309C>A (n.*1309C>A)
c.1059C>A (p.Ser353=)
c.1395C>A (p.Ser465=)
c.1575C>A (p.Ser525=)
c.1242C>A (p.Ser414=)
n.221+1177G>T
7g.117559556C>GCA457228818CFTR,CFTR-AS1c.1485C>G (p.Ser495=)
c.*1199C>G (n.*1199C>G)
c.1302C>G (p.Ser434=)
c.*43C>G (n.*43C>G)
c.*1309C>G (n.*1309C>G)
c.1059C>G (p.Ser353=)
c.1395C>G (p.Ser465=)
c.1575C>G (p.Ser525=)
c.1242C>G (p.Ser414=)
n.221+1177G>C
 ClinVar
7g.117559556C>TCA457228817CFTR,CFTR-AS1c.1485C>T (p.Ser495=)
c.*1199C>T (n.*1199C>T)
c.1302C>T (p.Ser434=)
c.*43C>T (n.*43C>T)
c.*1309C>T (n.*1309C>T)
c.1059C>T (p.Ser353=)
c.1395C>T (p.Ser465=)
c.1575C>T (p.Ser525=)
c.1242C>T (p.Ser414=)
n.221+1177G>A
7g.117559556_117559557delinsCTCA1737384465CFTR,CFTR-AS1c.1485_1486delinsCT (p.Ser495=)
c.*1199_*1200delinsCT (n.*1199_*1200delinsCT)
c.1302_1303delinsCT (p.Ser434=)
c.*43_*44delinsCT (n.*43_*44delinsCT)
c.*1309_*1310delinsCT (n.*1309_*1310delinsCT)
c.1059_1060delinsCT (p.Ser353=)
c.1395_1396delinsCT (p.Ser465=)
c.1575_1576delinsCT (p.Ser525=)
c.1242_1243delinsCT (p.Ser414=)
n.221+1176_221+1177delinsAG
7g.117559557delCA915945483CFTR,CFTR-AS1c.1486del (p.Trp496GlyfsTer?)
c.*1200del (n.*1200del)
c.1303del (p.Trp435GlyfsTer?)
c.*44del (n.*44del)
c.*1310del (n.*1310del)
c.1060del (p.Trp354GlyfsTer?)
c.1396del (p.Trp466GlyfsTer?)
c.1576del (p.Trp526GlyfsTer?)
c.1243del (p.Trp415GlyfsTer?)
n.221+1176del
 ClinVar dbSNP
7g.117559557T>ACA368984569CFTR,CFTR-AS1c.1486T>A (p.Trp496Arg)
c.*1200T>A (n.*1200T>A)
c.1303T>A (p.Trp435Arg)
c.*44T>A (n.*44T>A)
c.*1310T>A (n.*1310T>A)
c.1060T>A (p.Trp354Arg)
c.1396T>A (p.Trp466Arg)
c.1576T>A (p.Trp526Arg)
c.1243T>A (p.Trp415Arg)
n.221+1176A>T
7g.117559557T>CCA368984571CFTR,CFTR-AS1c.1486T>C (p.Trp496Arg)
c.*1200T>C (n.*1200T>C)
c.1303T>C (p.Trp435Arg)
c.*44T>C (n.*44T>C)
c.*1310T>C (n.*1310T>C)
c.1060T>C (p.Trp354Arg)
c.1396T>C (p.Trp466Arg)
c.1576T>C (p.Trp526Arg)
c.1243T>C (p.Trp415Arg)
n.221+1176A>G
 ClinVar dbSNP gnomAD v4
7g.117559557T>GCA368984573CFTR,CFTR-AS1c.1486T>G (p.Trp496Gly)
c.*1200T>G (n.*1200T>G)
c.1303T>G (p.Trp435Gly)
c.*44T>G (n.*44T>G)
c.*1310T>G (n.*1310T>G)
c.1060T>G (p.Trp354Gly)
c.1396T>G (p.Trp466Gly)
c.1576T>G (p.Trp526Gly)
c.1243T>G (p.Trp415Gly)
n.221+1176A>C
7g.117559557T=CA1737384478CFTR,CFTR-AS1c.1486T= (p.Trp496=)
c.*1200T= (n.*1200T=)
c.1303T= (p.Trp435=)
c.*44T= (n.*44T=)
c.*1310T= (n.*1310T=)
c.1060T= (p.Trp354=)
c.1396T= (p.Trp466=)
c.1576T= (p.Trp526=)
c.1243T= (p.Trp415=)
n.221+1176A=
7g.117559558G>ACA326501CFTR,CFTR-AS1c.1487G>A (p.Trp496Ter)
c.*1201G>A (n.*1201G>A)
c.1304G>A (p.Trp435Ter)
c.*45G>A (n.*45G>A)
c.*1311G>A (n.*1311G>A)
c.1061G>A (p.Trp354Ter)
c.1397G>A (p.Trp466Ter)
c.1577G>A (p.Trp526Ter)
c.1244G>A (p.Trp415Ter)
n.221+1175C>T
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117559558G>CCA368984574CFTR,CFTR-AS1c.1487G>C (p.Trp496Ser)
c.*1201G>C (n.*1201G>C)
c.1304G>C (p.Trp435Ser)
c.*45G>C (n.*45G>C)
c.*1311G>C (n.*1311G>C)
c.1061G>C (p.Trp354Ser)
c.1397G>C (p.Trp466Ser)
c.1577G>C (p.Trp526Ser)
c.1244G>C (p.Trp415Ser)
n.221+1175C>G
7g.117559558G=CA1737384487CFTR,CFTR-AS1c.1487G= (p.Trp496=)
c.*1201G= (n.*1201G=)
c.1304G= (p.Trp435=)
c.*45G= (n.*45G=)
c.*1311G= (n.*1311G=)
c.1061G= (p.Trp354=)
c.1397G= (p.Trp466=)
c.1577G= (p.Trp526=)
c.1244G= (p.Trp415=)
n.221+1175C=
7g.117559558G>TCA368984576CFTR,CFTR-AS1c.1487G>T (p.Trp496Leu)
c.*1201G>T (n.*1201G>T)
c.1304G>T (p.Trp435Leu)
c.*45G>T (n.*45G>T)
c.*1311G>T (n.*1311G>T)
c.1061G>T (p.Trp354Leu)
c.1397G>T (p.Trp466Leu)
c.1577G>T (p.Trp526Leu)
c.1244G>T (p.Trp415Leu)
n.221+1175C>A
7g.117559559G>ACA164967727CFTR,CFTR-AS1c.1488G>A (p.Trp496Ter)
c.*1202G>A (n.*1202G>A)
c.1305G>A (p.Trp435Ter)
c.*46G>A (n.*46G>A)
c.*1312G>A (n.*1312G>A)
c.1062G>A (p.Trp354Ter)
c.1398G>A (p.Trp466Ter)
c.1578G>A (p.Trp526Ter)
c.1245G>A (p.Trp415Ter)
n.221+1174C>T
 ClinVar dbSNP
7g.117559559G>CCA164967729CFTR,CFTR-AS1c.1488G>C (p.Trp496Cys)
c.*1202G>C (n.*1202G>C)
c.1305G>C (p.Trp435Cys)
c.*46G>C (n.*46G>C)
c.*1312G>C (n.*1312G>C)
c.1062G>C (p.Trp354Cys)
c.1398G>C (p.Trp466Cys)
c.1578G>C (p.Trp526Cys)
c.1245G>C (p.Trp415Cys)
n.221+1174C>G
 dbSNP gnomAD v3 gnomAD v4
7g.117559559G=CA1737384490CFTR,CFTR-AS1c.1488G= (p.Trp496=)
c.*1202G= (n.*1202G=)
c.1305G= (p.Trp435=)
c.*46G= (n.*46G=)
c.*1312G= (n.*1312G=)
c.1062G= (p.Trp354=)
c.1398G= (p.Trp466=)
c.1578G= (p.Trp526=)
c.1245G= (p.Trp415=)
n.221+1174C=
7g.117559559G>TCA368984578CFTR,CFTR-AS1c.1488G>T (p.Trp496Cys)
c.*1202G>T (n.*1202G>T)
c.1305G>T (p.Trp435Cys)
c.*46G>T (n.*46G>T)
c.*1312G>T (n.*1312G>T)
c.1062G>T (p.Trp354Cys)
c.1398G>T (p.Trp466Cys)
c.1578G>T (p.Trp526Cys)
c.1245G>T (p.Trp415Cys)
n.221+1174C>A
 gnomAD v4
7g.117559560A>CCA368984580CFTR,CFTR-AS1c.1489A>C (p.Ile497Leu)
c.*1203A>C (n.*1203A>C)
c.1306A>C (p.Ile436Leu)
c.*47A>C (n.*47A>C)
c.*1313A>C (n.*1313A>C)
c.1063A>C (p.Ile355Leu)
c.1399A>C (p.Ile467Leu)
c.1579A>C (p.Ile527Leu)
c.1246A>C (p.Ile416Leu)
n.221+1173T>G
7g.117559560A>GCA368984581CFTR,CFTR-AS1c.1489A>G (p.Ile497Val)
c.*1203A>G (n.*1203A>G)
c.1306A>G (p.Ile436Val)
c.*47A>G (n.*47A>G)
c.*1313A>G (n.*1313A>G)
c.1063A>G (p.Ile355Val)
c.1399A>G (p.Ile467Val)
c.1579A>G (p.Ile527Val)
c.1246A>G (p.Ile416Val)
n.221+1173T>C
 gnomAD v4
7g.117559560A>TCA368984582CFTR,CFTR-AS1c.1489A>T (p.Ile497Phe)
c.*1203A>T (n.*1203A>T)
c.1306A>T (p.Ile436Phe)
c.*47A>T (n.*47A>T)
c.*1313A>T (n.*1313A>T)
c.1063A>T (p.Ile355Phe)
c.1399A>T (p.Ile467Phe)
c.1579A>T (p.Ile527Phe)
c.1246A>T (p.Ile416Phe)
n.221+1173T>A
 gnomAD v4
7g.117559564_117559578delCA2573052806CFTR,CFTR-AS1c.1493_1507del (p.Met498_Ile502del)
c.*1207_*1221del (n.*1207_*1221del)
c.1310_1324del (p.Met437_Ile441del)
c.*51_*65del (n.*51_*65del)
c.*1317_*1331del (n.*1317_*1331del)
c.1067_1081del (p.Met356_Ile360del)
c.1403_1417del (p.Met468_Ile472del)
c.1583_1597del (p.Met528_Ile532del)
c.1250_1264del (p.Met417_Ile421del)
n.221+1159_221+1173del
 ClinVar dbSNP
7g.117559561T>ACA368984584CFTR,CFTR-AS1c.1490T>A (p.Ile497Asn)
c.*1204T>A (n.*1204T>A)
c.1307T>A (p.Ile436Asn)
c.*48T>A (n.*48T>A)
c.*1314T>A (n.*1314T>A)
c.1064T>A (p.Ile355Asn)
c.1400T>A (p.Ile467Asn)
c.1580T>A (p.Ile527Asn)
c.1247T>A (p.Ile416Asn)
n.221+1172A>T
7g.117559561T>CCA368984586CFTR,CFTR-AS1c.1490T>C (p.Ile497Thr)
c.*1204T>C (n.*1204T>C)
c.1307T>C (p.Ile436Thr)
c.*48T>C (n.*48T>C)
c.*1314T>C (n.*1314T>C)
c.1064T>C (p.Ile355Thr)
c.1400T>C (p.Ile467Thr)
c.1580T>C (p.Ile527Thr)
c.1247T>C (p.Ile416Thr)
n.221+1172A>G
7g.117559561T>GCA368984588CFTR,CFTR-AS1c.1490T>G (p.Ile497Ser)
c.*1204T>G (n.*1204T>G)
c.1307T>G (p.Ile436Ser)
c.*48T>G (n.*48T>G)
c.*1314T>G (n.*1314T>G)
c.1064T>G (p.Ile355Ser)
c.1400T>G (p.Ile467Ser)
c.1580T>G (p.Ile527Ser)
c.1247T>G (p.Ile416Ser)
n.221+1172A>C
 ClinVar dbSNP
7g.117559561T=CA1737384498CFTR,CFTR-AS1c.1490T= (p.Ile497=)
c.*1204T= (n.*1204T=)
c.1307T= (p.Ile436=)
c.*48T= (n.*48T=)
c.*1314T= (n.*1314T=)
c.1064T= (p.Ile355=)
c.1400T= (p.Ile467=)
c.1580T= (p.Ile527=)
c.1247T= (p.Ile416=)
n.221+1172A=
7g.117559562T>ACA457228824CFTR,CFTR-AS1c.1491T>A (p.Ile497=)
c.*1205T>A (n.*1205T>A)
c.1308T>A (p.Ile436=)
c.*49T>A (n.*49T>A)
c.*1315T>A (n.*1315T>A)
c.1065T>A (p.Ile355=)
c.1401T>A (p.Ile467=)
c.1581T>A (p.Ile527=)
c.1248T>A (p.Ile416=)
n.221+1171A>T
7g.117559562T>CCA457228825CFTR,CFTR-AS1c.1491T>C (p.Ile497=)
c.*1205T>C (n.*1205T>C)
c.1308T>C (p.Ile436=)
c.*49T>C (n.*49T>C)
c.*1315T>C (n.*1315T>C)
c.1065T>C (p.Ile355=)
c.1401T>C (p.Ile467=)
c.1581T>C (p.Ile527=)
c.1248T>C (p.Ile416=)
n.221+1171A>G
7g.117559562T>GCA368984590CFTR,CFTR-AS1c.1491T>G (p.Ile497Met)
c.*1205T>G (n.*1205T>G)
c.1308T>G (p.Ile436Met)
c.*49T>G (n.*49T>G)
c.*1315T>G (n.*1315T>G)
c.1065T>G (p.Ile355Met)
c.1401T>G (p.Ile467Met)
c.1581T>G (p.Ile527Met)
c.1248T>G (p.Ile416Met)
n.221+1171A>C
7g.117559563A=CA1737384505CFTR,CFTR-AS1c.1492A= (p.Met498=)
c.*1206A= (n.*1206A=)
c.1309A= (p.Met437=)
c.*50A= (n.*50A=)
c.*1316A= (n.*1316A=)
c.1066A= (p.Met356=)
c.1402A= (p.Met468=)
c.1582A= (p.Met528=)
c.1249A= (p.Met417=)
n.221+1170T=
7g.117559563A>CCA368984592CFTR,CFTR-AS1c.1492A>C (p.Met498Leu)
c.*1206A>C (n.*1206A>C)
c.1309A>C (p.Met437Leu)
c.*50A>C (n.*50A>C)
c.*1316A>C (n.*1316A>C)
c.1066A>C (p.Met356Leu)
c.1402A>C (p.Met468Leu)
c.1582A>C (p.Met528Leu)
c.1249A>C (p.Met417Leu)
n.221+1170T>G
7g.117559563A>GCA368984594CFTR,CFTR-AS1c.1492A>G (p.Met498Val)
c.*1206A>G (n.*1206A>G)
c.1309A>G (p.Met437Val)
c.*50A>G (n.*50A>G)
c.*1316A>G (n.*1316A>G)
c.1066A>G (p.Met356Val)
c.1402A>G (p.Met468Val)
c.1582A>G (p.Met528Val)
c.1249A>G (p.Met417Val)
n.221+1170T>C
 ClinVar dbSNP gnomAD v4
7g.117559563A>TCA368984596CFTR,CFTR-AS1c.1492A>T (p.Met498Leu)
c.*1206A>T (n.*1206A>T)
c.1309A>T (p.Met437Leu)
c.*50A>T (n.*50A>T)
c.*1316A>T (n.*1316A>T)
c.1066A>T (p.Met356Leu)
c.1402A>T (p.Met468Leu)
c.1582A>T (p.Met528Leu)
c.1249A>T (p.Met417Leu)
n.221+1170T>A
7g.117559564T>ACA368984597CFTR,CFTR-AS1c.1493T>A (p.Met498Lys)
c.*1207T>A (n.*1207T>A)
c.1310T>A (p.Met437Lys)
c.*51T>A (n.*51T>A)
c.*1317T>A (n.*1317T>A)
c.1067T>A (p.Met356Lys)
c.1403T>A (p.Met468Lys)
c.1583T>A (p.Met528Lys)
c.1250T>A (p.Met417Lys)
n.221+1169A>T
7g.117559564T>CCA368984599CFTR,CFTR-AS1c.1493T>C (p.Met498Thr)
c.*1207T>C (n.*1207T>C)
c.1310T>C (p.Met437Thr)
c.*51T>C (n.*51T>C)
c.*1317T>C (n.*1317T>C)
c.1067T>C (p.Met356Thr)
c.1403T>C (p.Met468Thr)
c.1583T>C (p.Met528Thr)
c.1250T>C (p.Met417Thr)
n.221+1169A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117559564T>GCA368984601CFTR,CFTR-AS1c.1493T>G (p.Met498Arg)
c.*1207T>G (n.*1207T>G)
c.1310T>G (p.Met437Arg)
c.*51T>G (n.*51T>G)
c.*1317T>G (n.*1317T>G)
c.1067T>G (p.Met356Arg)
c.1403T>G (p.Met468Arg)
c.1583T>G (p.Met528Arg)
c.1250T>G (p.Met417Arg)
n.221+1169A>C
7g.117559564T=CA1737384508CFTR,CFTR-AS1c.1493T= (p.Met498=)
c.*1207T= (n.*1207T=)
c.1310T= (p.Met437=)
c.*51T= (n.*51T=)
c.*1317T= (n.*1317T=)
c.1067T= (p.Met356=)
c.1403T= (p.Met468=)
c.1583T= (p.Met528=)
c.1250T= (p.Met417=)
n.221+1169A=
7g.117559565G>ACA368984604CFTR,CFTR-AS1c.1494G>A (p.Met498Ile)
c.*1208G>A (n.*1208G>A)
c.1311G>A (p.Met437Ile)
c.*52G>A (n.*52G>A)
c.*1318G>A (n.*1318G>A)
c.1068G>A (p.Met356Ile)
c.1404G>A (p.Met468Ile)
c.1584G>A (p.Met528Ile)
c.1251G>A (p.Met417Ile)
n.221+1168C>T
7g.117559565G>CCA326505CFTR,CFTR-AS1c.1494G>C (p.Met498Ile)
c.*1208G>C (n.*1208G>C)
c.1311G>C (p.Met437Ile)
c.*52G>C (n.*52G>C)
c.*1318G>C (n.*1318G>C)
c.1068G>C (p.Met356Ile)
c.1404G>C (p.Met468Ile)
c.1584G>C (p.Met528Ile)
c.1251G>C (p.Met417Ile)
n.221+1168C>G
 dbSNP
7g.117559565G=CA1737384513CFTR,CFTR-AS1c.1494G= (p.Met498=)
c.*1208G= (n.*1208G=)
c.1311G= (p.Met437=)
c.*52G= (n.*52G=)
c.*1318G= (n.*1318G=)
c.1068G= (p.Met356=)
c.1404G= (p.Met468=)
c.1584G= (p.Met528=)
c.1251G= (p.Met417=)
n.221+1168C=
7g.117559565G>TCA368984603CFTR,CFTR-AS1c.1494G>T (p.Met498Ile)
c.*1208G>T (n.*1208G>T)
c.1311G>T (p.Met437Ile)
c.*52G>T (n.*52G>T)
c.*1318G>T (n.*1318G>T)
c.1068G>T (p.Met356Ile)
c.1404G>T (p.Met468Ile)
c.1584G>T (p.Met528Ile)
c.1251G>T (p.Met417Ile)
n.221+1168C>A
7g.117559566C>ACA368984605CFTR,CFTR-AS1c.1495C>A (p.Pro499Thr)
c.*1209C>A (n.*1209C>A)
c.1312C>A (p.Pro438Thr)
c.*53C>A (n.*53C>A)
c.*1319C>A (n.*1319C>A)
c.1069C>A (p.Pro357Thr)
c.1405C>A (p.Pro469Thr)
c.1585C>A (p.Pro529Thr)
c.1252C>A (p.Pro418Thr)
n.221+1167G>T
 ClinVar dbSNP gnomAD v4
7g.117559566C=CA1737384520CFTR,CFTR-AS1c.1495C= (p.Pro499=)
c.*1209C= (n.*1209C=)
c.1312C= (p.Pro438=)
c.*53C= (n.*53C=)
c.*1319C= (n.*1319C=)
c.1069C= (p.Pro357=)
c.1405C= (p.Pro469=)
c.1585C= (p.Pro529=)
c.1252C= (p.Pro418=)
n.221+1167G=
7g.117559566C>GCA326507CFTR,CFTR-AS1c.1495C>G (p.Pro499Ala)
c.*1209C>G (n.*1209C>G)
c.1312C>G (p.Pro438Ala)
c.*53C>G (n.*53C>G)
c.*1319C>G (n.*1319C>G)
c.1069C>G (p.Pro357Ala)
c.1405C>G (p.Pro469Ala)
c.1585C>G (p.Pro529Ala)
c.1252C>G (p.Pro418Ala)
n.221+1167G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559566C>TCA368984606CFTR,CFTR-AS1c.1495C>T (p.Pro499Ser)
c.*1209C>T (n.*1209C>T)
c.1312C>T (p.Pro438Ser)
c.*53C>T (n.*53C>T)
c.*1319C>T (n.*1319C>T)
c.1069C>T (p.Pro357Ser)
c.1405C>T (p.Pro469Ser)
c.1585C>T (p.Pro529Ser)
c.1252C>T (p.Pro418Ser)
n.221+1167G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559567C>ACA368984607CFTR,CFTR-AS1c.1496C>A (p.Pro499His)
c.*1210C>A (n.*1210C>A)
c.1313C>A (p.Pro438His)
c.*54C>A (n.*54C>A)
c.*1320C>A (n.*1320C>A)
c.1070C>A (p.Pro357His)
c.1406C>A (p.Pro469His)
c.1586C>A (p.Pro529His)
c.1253C>A (p.Pro418His)
n.221+1166G>T
7g.117559567C=CA1737384526CFTR,CFTR-AS1c.1496C= (p.Pro499=)
c.*1210C= (n.*1210C=)
c.1313C= (p.Pro438=)
c.*54C= (n.*54C=)
c.*1320C= (n.*1320C=)
c.1070C= (p.Pro357=)
c.1406C= (p.Pro469=)
c.1586C= (p.Pro529=)
c.1253C= (p.Pro418=)
n.221+1166G=
7g.117559567C>GCA368984611CFTR,CFTR-AS1c.1496C>G (p.Pro499Arg)
c.*1210C>G (n.*1210C>G)
c.1313C>G (p.Pro438Arg)
c.*54C>G (n.*54C>G)
c.*1320C>G (n.*1320C>G)
c.1070C>G (p.Pro357Arg)
c.1406C>G (p.Pro469Arg)
c.1586C>G (p.Pro529Arg)
c.1253C>G (p.Pro418Arg)
n.221+1166G>C
7g.117559567C>TCA368984613CFTR,CFTR-AS1c.1496C>T (p.Pro499Leu)
c.*1210C>T (n.*1210C>T)
c.1313C>T (p.Pro438Leu)
c.*54C>T (n.*54C>T)
c.*1320C>T (n.*1320C>T)
c.1070C>T (p.Pro357Leu)
c.1406C>T (p.Pro469Leu)
c.1586C>T (p.Pro529Leu)
c.1253C>T (p.Pro418Leu)
n.221+1166G>A
 ClinVar dbSNP
7g.117559568T>ACA457228827CFTR,CFTR-AS1c.1497T>A (p.Pro499=)
c.*1211T>A (n.*1211T>A)
c.1314T>A (p.Pro438=)
c.*55T>A (n.*55T>A)
c.*1321T>A (n.*1321T>A)
c.1071T>A (p.Pro357=)
c.1407T>A (p.Pro469=)
c.1587T>A (p.Pro529=)
c.1254T>A (p.Pro418=)
n.221+1165A>T
7g.117559568T>CCA457228829CFTR,CFTR-AS1c.1497T>C (p.Pro499=)
c.*1211T>C (n.*1211T>C)
c.1314T>C (p.Pro438=)
c.*55T>C (n.*55T>C)
c.*1321T>C (n.*1321T>C)
c.1071T>C (p.Pro357=)
c.1407T>C (p.Pro469=)
c.1587T>C (p.Pro529=)
c.1254T>C (p.Pro418=)
n.221+1165A>G
 dbSNP gnomAD v2 gnomAD v4
7g.117559568T>GCA457228830CFTR,CFTR-AS1c.1497T>G (p.Pro499=)
c.*1211T>G (n.*1211T>G)
c.1314T>G (p.Pro438=)
c.*55T>G (n.*55T>G)
c.*1321T>G (n.*1321T>G)
c.1071T>G (p.Pro357=)
c.1407T>G (p.Pro469=)
c.1587T>G (p.Pro529=)
c.1254T>G (p.Pro418=)
n.221+1165A>C
7g.117559568T=CA1737384531CFTR,CFTR-AS1c.1497T= (p.Pro499=)
c.*1211T= (n.*1211T=)
c.1314T= (p.Pro438=)
c.*55T= (n.*55T=)
c.*1321T= (n.*1321T=)
c.1071T= (p.Pro357=)
c.1407T= (p.Pro469=)
c.1587T= (p.Pro529=)
c.1254T= (p.Pro418=)
n.221+1165A=
7g.117559569G>ACA368984616CFTR,CFTR-AS1c.1498G>A (p.Gly500Ser)
c.*1212G>A (n.*1212G>A)
c.1315G>A (p.Gly439Ser)
c.*56G>A (n.*56G>A)
c.*1322G>A (n.*1322G>A)
c.1072G>A (p.Gly358Ser)
c.1408G>A (p.Gly470Ser)
c.1588G>A (p.Gly530Ser)
c.1255G>A (p.Gly419Ser)
n.221+1164C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559569G>CCA368984619CFTR,CFTR-AS1c.1498G>C (p.Gly500Arg)
c.*1212G>C (n.*1212G>C)
c.1315G>C (p.Gly439Arg)
c.*56G>C (n.*56G>C)
c.*1322G>C (n.*1322G>C)
c.1072G>C (p.Gly358Arg)
c.1408G>C (p.Gly470Arg)
c.1588G>C (p.Gly530Arg)
c.1255G>C (p.Gly419Arg)
n.221+1164C>G
7g.117559569G=CA1737384535CFTR,CFTR-AS1c.1498G= (p.Gly500=)
c.*1212G= (n.*1212G=)
c.1315G= (p.Gly439=)
c.*56G= (n.*56G=)
c.*1322G= (n.*1322G=)
c.1072G= (p.Gly358=)
c.1408G= (p.Gly470=)
c.1588G= (p.Gly530=)
c.1255G= (p.Gly419=)
n.221+1164C=
7g.117559569G>TCA368984625CFTR,CFTR-AS1c.1498G>T (p.Gly500Cys)
c.*1212G>T (n.*1212G>T)
c.1315G>T (p.Gly439Cys)
c.*56G>T (n.*56G>T)
c.*1322G>T (n.*1322G>T)
c.1072G>T (p.Gly358Cys)
c.1408G>T (p.Gly470Cys)
c.1588G>T (p.Gly530Cys)
c.1255G>T (p.Gly419Cys)
n.221+1164C>A
7g.117559570G>ACA4451011CFTR,CFTR-AS1c.1499G>A (p.Gly500Asp)
c.*1213G>A (n.*1213G>A)
c.1316G>A (p.Gly439Asp)
c.*57G>A (n.*57G>A)
c.*1323G>A (n.*1323G>A)
c.1073G>A (p.Gly358Asp)
c.1409G>A (p.Gly470Asp)
c.1589G>A (p.Gly530Asp)
c.1256G>A (p.Gly419Asp)
n.221+1163C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559570G>CCA368984628CFTR,CFTR-AS1c.1499G>C (p.Gly500Ala)
c.*1213G>C (n.*1213G>C)
c.1316G>C (p.Gly439Ala)
c.*57G>C (n.*57G>C)
c.*1323G>C (n.*1323G>C)
c.1073G>C (p.Gly358Ala)
c.1409G>C (p.Gly470Ala)
c.1589G>C (p.Gly530Ala)
c.1256G>C (p.Gly419Ala)
n.221+1163C>G
7g.117559570G=CA1737384542CFTR,CFTR-AS1c.1499G= (p.Gly500=)
c.*1213G= (n.*1213G=)
c.1316G= (p.Gly439=)
c.*57G= (n.*57G=)
c.*1323G= (n.*1323G=)
c.1073G= (p.Gly358=)
c.1409G= (p.Gly470=)
c.1589G= (p.Gly530=)
c.1256G= (p.Gly419=)
n.221+1163C=
7g.117559570G>TCA368984629CFTR,CFTR-AS1c.1499G>T (p.Gly500Val)
c.*1213G>T (n.*1213G>T)
c.1316G>T (p.Gly439Val)
c.*57G>T (n.*57G>T)
c.*1323G>T (n.*1323G>T)
c.1073G>T (p.Gly358Val)
c.1409G>T (p.Gly470Val)
c.1589G>T (p.Gly530Val)
c.1256G>T (p.Gly419Val)
n.221+1163C>A
7g.117559571C>ACA4451012CFTR,CFTR-AS1c.1500C>A (p.Gly500=)
c.*1214C>A (n.*1214C>A)
c.1317C>A (p.Gly439=)
c.*58C>A (n.*58C>A)
c.*1324C>A (n.*1324C>A)
c.1074C>A (p.Gly358=)
c.1410C>A (p.Gly470=)
c.1590C>A (p.Gly530=)
c.1257C>A (p.Gly419=)
n.221+1162G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117559571C=CA1737384550CFTR,CFTR-AS1c.1500C= (p.Gly500=)
c.*1214C= (n.*1214C=)
c.1317C= (p.Gly439=)
c.*58C= (n.*58C=)
c.*1324C= (n.*1324C=)
c.1074C= (p.Gly358=)
c.1410C= (p.Gly470=)
c.1590C= (p.Gly530=)
c.1257C= (p.Gly419=)
n.221+1162G=
7g.117559571C>GCA457228834CFTR,CFTR-AS1c.1500C>G (p.Gly500=)
c.*1214C>G (n.*1214C>G)
c.1317C>G (p.Gly439=)
c.*58C>G (n.*58C>G)
c.*1324C>G (n.*1324C>G)
c.1074C>G (p.Gly358=)
c.1410C>G (p.Gly470=)
c.1590C>G (p.Gly530=)
c.1257C>G (p.Gly419=)
n.221+1162G>C
 ClinVar
7g.117559571C>TCA457228835CFTR,CFTR-AS1c.1500C>T (p.Gly500=)
c.*1214C>T (n.*1214C>T)
c.1317C>T (p.Gly439=)
c.*58C>T (n.*58C>T)
c.*1324C>T (n.*1324C>T)
c.1074C>T (p.Gly358=)
c.1410C>T (p.Gly470=)
c.1590C>T (p.Gly530=)
c.1257C>T (p.Gly419=)
n.221+1162G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559572A=CA1737384554CFTR,CFTR-AS1c.1501A= (p.Thr501=)
c.*1215A= (n.*1215A=)
c.1318A= (p.Thr440=)
c.*59A= (n.*59A=)
c.*1325A= (n.*1325A=)
c.1075A= (p.Thr359=)
c.1411A= (p.Thr471=)
c.1591A= (p.Thr531=)
c.1258A= (p.Thr420=)
n.221+1161T=
7g.117559572A>CCA368984632CFTR,CFTR-AS1c.1501A>C (p.Thr501Pro)
c.*1215A>C (n.*1215A>C)
c.1318A>C (p.Thr440Pro)
c.*59A>C (n.*59A>C)
c.*1325A>C (n.*1325A>C)
c.1075A>C (p.Thr359Pro)
c.1411A>C (p.Thr471Pro)
c.1591A>C (p.Thr531Pro)
c.1258A>C (p.Thr420Pro)
n.221+1161T>G
7g.117559572A>GCA326510CFTR,CFTR-AS1c.1501A>G (p.Thr501Ala)
c.*1215A>G (n.*1215A>G)
c.1318A>G (p.Thr440Ala)
c.*59A>G (n.*59A>G)
c.*1325A>G (n.*1325A>G)
c.1075A>G (p.Thr359Ala)
c.1411A>G (p.Thr471Ala)
c.1591A>G (p.Thr531Ala)
c.1258A>G (p.Thr420Ala)
n.221+1161T>C
 ClinVar dbSNP
7g.117559572A>TCA368984631CFTR,CFTR-AS1c.1501A>T (p.Thr501Ser)
c.*1215A>T (n.*1215A>T)
c.1318A>T (p.Thr440Ser)
c.*59A>T (n.*59A>T)
c.*1325A>T (n.*1325A>T)
c.1075A>T (p.Thr359Ser)
c.1411A>T (p.Thr471Ser)
c.1591A>T (p.Thr531Ser)
c.1258A>T (p.Thr420Ser)
n.221+1161T>A
7g.117559573C>ACA368984635CFTR,CFTR-AS1c.1502C>A (p.Thr501Asn)
c.*1216C>A (n.*1216C>A)
c.1319C>A (p.Thr440Asn)
c.*60C>A (n.*60C>A)
c.*1326C>A (n.*1326C>A)
c.1076C>A (p.Thr359Asn)
c.1412C>A (p.Thr471Asn)
c.1592C>A (p.Thr531Asn)
c.1259C>A (p.Thr420Asn)
n.221+1160G>T
7g.117559573C=CA1737384559CFTR,CFTR-AS1c.1502C= (p.Thr501=)
c.*1216C= (n.*1216C=)
c.1319C= (p.Thr440=)
c.*60C= (n.*60C=)
c.*1326C= (n.*1326C=)
c.1076C= (p.Thr359=)
c.1412C= (p.Thr471=)
c.1592C= (p.Thr531=)
c.1259C= (p.Thr420=)
n.221+1160G=
7g.117559573C>GCA368984633CFTR,CFTR-AS1c.1502C>G (p.Thr501Ser)
c.*1216C>G (n.*1216C>G)
c.1319C>G (p.Thr440Ser)
c.*60C>G (n.*60C>G)
c.*1326C>G (n.*1326C>G)
c.1076C>G (p.Thr359Ser)
c.1412C>G (p.Thr471Ser)
c.1592C>G (p.Thr531Ser)
c.1259C>G (p.Thr420Ser)
n.221+1160G>C
 dbSNP gnomAD v3 gnomAD v4
7g.117559573C>TCA368984637CFTR,CFTR-AS1c.1502C>T (p.Thr501Ile)
c.*1216C>T (n.*1216C>T)
c.1319C>T (p.Thr440Ile)
c.*60C>T (n.*60C>T)
c.*1326C>T (n.*1326C>T)
c.1076C>T (p.Thr359Ile)
c.1412C>T (p.Thr471Ile)
c.1592C>T (p.Thr531Ile)
c.1259C>T (p.Thr420Ile)
n.221+1160G>A
 ClinVar dbSNP
7g.117559574C>ACA457228840CFTR,CFTR-AS1c.1503C>A (p.Thr501=)
c.*1217C>A (n.*1217C>A)
c.1320C>A (p.Thr440=)
c.*61C>A (n.*61C>A)
c.*1327C>A (n.*1327C>A)
c.1077C>A (p.Thr359=)
c.1413C>A (p.Thr471=)
c.1593C>A (p.Thr531=)
c.1260C>A (p.Thr420=)
n.221+1159G>T
7g.117559574C>GCA457228842CFTR,CFTR-AS1c.1503C>G (p.Thr501=)
c.*1217C>G (n.*1217C>G)
c.1320C>G (p.Thr440=)
c.*61C>G (n.*61C>G)
c.*1327C>G (n.*1327C>G)
c.1077C>G (p.Thr359=)
c.1413C>G (p.Thr471=)
c.1593C>G (p.Thr531=)
c.1260C>G (p.Thr420=)
n.221+1159G>C
7g.117559574C>TCA457228841CFTR,CFTR-AS1c.1503C>T (p.Thr501=)
c.*1217C>T (n.*1217C>T)
c.1320C>T (p.Thr440=)
c.*61C>T (n.*61C>T)
c.*1327C>T (n.*1327C>T)
c.1077C>T (p.Thr359=)
c.1413C>T (p.Thr471=)
c.1593C>T (p.Thr531=)
c.1260C>T (p.Thr420=)
n.221+1159G>A
 ClinVar
7g.117559575A=CA1737384561CFTR,CFTR-AS1c.1504A= (p.Ile502=)
c.*1218A= (n.*1218A=)
c.1321A= (p.Ile441=)
c.*62A= (n.*62A=)
c.*1328A= (n.*1328A=)
c.1078A= (p.Ile360=)
c.1414A= (p.Ile472=)
c.1594A= (p.Ile532=)
c.1261A= (p.Ile421=)
n.221+1158T=
7g.117559575A>CCA368984639CFTR,CFTR-AS1c.1504A>C (p.Ile502Leu)
c.*1218A>C (n.*1218A>C)
c.1321A>C (p.Ile441Leu)
c.*62A>C (n.*62A>C)
c.*1328A>C (n.*1328A>C)
c.1078A>C (p.Ile360Leu)
c.1414A>C (p.Ile472Leu)
c.1594A>C (p.Ile532Leu)
c.1261A>C (p.Ile421Leu)
n.221+1158T>G
7g.117559575A>GCA4451013CFTR,CFTR-AS1c.1504A>G (p.Ile502Val)
c.*1218A>G (n.*1218A>G)
c.1321A>G (p.Ile441Val)
c.*62A>G (n.*62A>G)
c.*1328A>G (n.*1328A>G)
c.1078A>G (p.Ile360Val)
c.1414A>G (p.Ile472Val)
c.1594A>G (p.Ile532Val)
c.1261A>G (p.Ile421Val)
n.221+1158T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559575A>TCA368984640CFTR,CFTR-AS1c.1504A>T (p.Ile502Phe)
c.*1218A>T (n.*1218A>T)
c.1321A>T (p.Ile441Phe)
c.*62A>T (n.*62A>T)
c.*1328A>T (n.*1328A>T)
c.1078A>T (p.Ile360Phe)
c.1414A>T (p.Ile472Phe)
c.1594A>T (p.Ile532Phe)
c.1261A>T (p.Ile421Phe)
n.221+1158T>A
7g.117559576T>ACA326512CFTR,CFTR-AS1c.1505T>A (p.Ile502Asn)
c.*1219T>A (n.*1219T>A)
c.1322T>A (p.Ile441Asn)
c.*63T>A (n.*63T>A)
c.*1329T>A (n.*1329T>A)
c.1079T>A (p.Ile360Asn)
c.1415T>A (p.Ile472Asn)
c.1595T>A (p.Ile532Asn)
c.1262T>A (p.Ile421Asn)
n.221+1157A>T
 ClinVar dbSNP
7g.117559576T>CCA326514CFTR,CFTR-AS1c.1505T>C (p.Ile502Thr)
c.*1219T>C (n.*1219T>C)
c.1322T>C (p.Ile441Thr)
c.*63T>C (n.*63T>C)
c.*1329T>C (n.*1329T>C)
c.1079T>C (p.Ile360Thr)
c.1415T>C (p.Ile472Thr)
c.1595T>C (p.Ile532Thr)
c.1262T>C (p.Ile421Thr)
n.221+1157A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559576T>GCA368984642CFTR,CFTR-AS1c.1505T>G (p.Ile502Ser)
c.*1219T>G (n.*1219T>G)
c.1322T>G (p.Ile441Ser)
c.*63T>G (n.*63T>G)
c.*1329T>G (n.*1329T>G)
c.1079T>G (p.Ile360Ser)
c.1415T>G (p.Ile472Ser)
c.1595T>G (p.Ile532Ser)
c.1262T>G (p.Ile421Ser)
n.221+1157A>C
 ClinVar dbSNP
7g.117559576T=CA1737384567CFTR,CFTR-AS1c.1505T= (p.Ile502=)
c.*1219T= (n.*1219T=)
c.1322T= (p.Ile441=)
c.*63T= (n.*63T=)
c.*1329T= (n.*1329T=)
c.1079T= (p.Ile360=)
c.1415T= (p.Ile472=)
c.1595T= (p.Ile532=)
c.1262T= (p.Ile421=)
n.221+1157A=
7g.117559577T>ACA457228846CFTR,CFTR-AS1c.1506T>A (p.Ile502=)
c.*1220T>A (n.*1220T>A)
c.1323T>A (p.Ile441=)
c.*64T>A (n.*64T>A)
c.*1330T>A (n.*1330T>A)
c.1080T>A (p.Ile360=)
c.1416T>A (p.Ile472=)
c.1596T>A (p.Ile532=)
c.1263T>A (p.Ile421=)
n.221+1156A>T
7g.117559577T>CCA457228847CFTR,CFTR-AS1c.1506T>C (p.Ile502=)
c.*1220T>C (n.*1220T>C)
c.1323T>C (p.Ile441=)
c.*64T>C (n.*64T>C)
c.*1330T>C (n.*1330T>C)
c.1080T>C (p.Ile360=)
c.1416T>C (p.Ile472=)
c.1596T>C (p.Ile532=)
c.1263T>C (p.Ile421=)
n.221+1156A>G
7g.117559577T>GCA368984649CFTR,CFTR-AS1c.1506T>G (p.Ile502Met)
c.*1220T>G (n.*1220T>G)
c.1323T>G (p.Ile441Met)
c.*64T>G (n.*64T>G)
c.*1330T>G (n.*1330T>G)
c.1080T>G (p.Ile360Met)
c.1416T>G (p.Ile472Met)
c.1596T>G (p.Ile532Met)
c.1263T>G (p.Ile421Met)
n.221+1156A>C
 gnomAD v4
7g.117559578A>CCA368984652CFTR,CFTR-AS1c.1507A>C (p.Lys503Gln)
c.*1221A>C (n.*1221A>C)
c.1324A>C (p.Lys442Gln)
c.*65A>C (n.*65A>C)
c.*1331A>C (n.*1331A>C)
c.1081A>C (p.Lys361Gln)
c.1417A>C (p.Lys473Gln)
c.1597A>C (p.Lys533Gln)
c.1264A>C (p.Lys422Gln)
n.221+1155T>G
7g.117559578A>GCA368984655CFTR,CFTR-AS1c.1507A>G (p.Lys503Glu)
c.*1221A>G (n.*1221A>G)
c.1324A>G (p.Lys442Glu)
c.*65A>G (n.*65A>G)
c.*1331A>G (n.*1331A>G)
c.1081A>G (p.Lys361Glu)
c.1417A>G (p.Lys473Glu)
c.1597A>G (p.Lys533Glu)
c.1264A>G (p.Lys422Glu)
n.221+1155T>C
 ClinVar gnomAD v4
7g.117559578A>TCA368984657CFTR,CFTR-AS1c.1507A>T (p.Lys503Ter)
c.*1221A>T (n.*1221A>T)
c.1324A>T (p.Lys442Ter)
c.*65A>T (n.*65A>T)
c.*1331A>T (n.*1331A>T)
c.1081A>T (p.Lys361Ter)
c.1417A>T (p.Lys473Ter)
c.1597A>T (p.Lys533Ter)
c.1264A>T (p.Lys422Ter)
n.221+1155T>A
7g.117559579A>CCA368984659CFTR,CFTR-AS1c.1508A>C (p.Lys503Thr)
c.*1222A>C (n.*1222A>C)
c.1325A>C (p.Lys442Thr)
c.*66A>C (n.*66A>C)
c.*1332A>C (n.*1332A>C)
c.1082A>C (p.Lys361Thr)
c.1418A>C (p.Lys473Thr)
c.1598A>C (p.Lys533Thr)
c.1265A>C (p.Lys422Thr)
n.221+1154T>G
7g.117559579A>GCA368984661CFTR,CFTR-AS1c.1508A>G (p.Lys503Arg)
c.*1222A>G (n.*1222A>G)
c.1325A>G (p.Lys442Arg)
c.*66A>G (n.*66A>G)
c.*1332A>G (n.*1332A>G)
c.1082A>G (p.Lys361Arg)
c.1418A>G (p.Lys473Arg)
c.1598A>G (p.Lys533Arg)
c.1265A>G (p.Lys422Arg)
n.221+1154T>C
7g.117559579A>TCA368984663CFTR,CFTR-AS1c.1508A>T (p.Lys503Ile)
c.*1222A>T (n.*1222A>T)
c.1325A>T (p.Lys442Ile)
c.*66A>T (n.*66A>T)
c.*1332A>T (n.*1332A>T)
c.1082A>T (p.Lys361Ile)
c.1418A>T (p.Lys473Ile)
c.1598A>T (p.Lys533Ile)
c.1265A>T (p.Lys422Ile)
n.221+1154T>A
7g.117559580A>CCA368984664CFTR,CFTR-AS1c.1509A>C (p.Lys503Asn)
c.*1223A>C (n.*1223A>C)
c.1326A>C (p.Lys442Asn)
c.*67A>C (n.*67A>C)
c.*1333A>C (n.*1333A>C)
c.1083A>C (p.Lys361Asn)
c.1419A>C (p.Lys473Asn)
c.1599A>C (p.Lys533Asn)
c.1266A>C (p.Lys422Asn)
n.221+1153T>G
7g.117559580A>GCA457228851CFTR,CFTR-AS1c.1509A>G (p.Lys503=)
c.*1223A>G (n.*1223A>G)
c.1326A>G (p.Lys442=)
c.*67A>G (n.*67A>G)
c.*1333A>G (n.*1333A>G)
c.1083A>G (p.Lys361=)
c.1419A>G (p.Lys473=)
c.1599A>G (p.Lys533=)
c.1266A>G (p.Lys422=)
n.221+1153T>C
 ClinVar
7g.117559580A>TCA368984666CFTR,CFTR-AS1c.1509A>T (p.Lys503Asn)
c.*1223A>T (n.*1223A>T)
c.1326A>T (p.Lys442Asn)
c.*67A>T (n.*67A>T)
c.*1333A>T (n.*1333A>T)
c.1083A>T (p.Lys361Asn)
c.1419A>T (p.Lys473Asn)
c.1599A>T (p.Lys533Asn)
c.1266A>T (p.Lys422Asn)
n.221+1153T>A
7g.117559580_117559581delinsTCA2695208323CFTR,CFTR-AS1c.1509_1510delinsT (p.Lys503AsnfsTer24)
c.*1223_*1224delinsT (n.*1223_*1224delinsT)
c.1326_1327delinsT (p.Lys442AsnfsTer24)
c.*67_*68delinsT (n.*67_*68delinsT)
c.*1333_*1334delinsT (n.*1333_*1334delinsT)
c.1083_1084delinsT (p.Lys361AsnfsTer24)
c.1419_1420delinsT (p.Lys473AsnfsTer24)
c.1599_1600delinsT (p.Lys533AsnfsTer24)
c.1266_1267delinsT (p.Lys422AsnfsTer24)
n.221+1152_221+1153delinsA
7g.117559581G>ACA368984667CFTR,CFTR-AS1c.1510G>A (p.Glu504Lys)
c.*1224G>A (n.*1224G>A)
c.1327G>A (p.Glu443Lys)
c.*68G>A (n.*68G>A)
c.*1334G>A (n.*1334G>A)
c.1084G>A (p.Glu362Lys)
c.1420G>A (p.Glu474Lys)
c.1600G>A (p.Glu534Lys)
c.1267G>A (p.Glu423Lys)
n.221+1152C>T
 COSMIC
7g.117559581G>CCA326516CFTR,CFTR-AS1c.1510G>C (p.Glu504Gln)
c.*1224G>C (n.*1224G>C)
c.1327G>C (p.Glu443Gln)
c.*68G>C (n.*68G>C)
c.*1334G>C (n.*1334G>C)
c.1084G>C (p.Glu362Gln)
c.1420G>C (p.Glu474Gln)
c.1600G>C (p.Glu534Gln)
c.1267G>C (p.Glu423Gln)
n.221+1152C>G
 ClinVar dbSNP
7g.117559581G=CA1737384583CFTR,CFTR-AS1c.1510G= (p.Glu504=)
c.*1224G= (n.*1224G=)
c.1327G= (p.Glu443=)
c.*68G= (n.*68G=)
c.*1334G= (n.*1334G=)
c.1084G= (p.Glu362=)
c.1420G= (p.Glu474=)
c.1600G= (p.Glu534=)
c.1267G= (p.Glu423=)
n.221+1152C=
7g.117559581G>TCA326517CFTR,CFTR-AS1c.1510G>T (p.Glu504Ter)
c.*1224G>T (n.*1224G>T)
c.1327G>T (p.Glu443Ter)
c.*68G>T (n.*68G>T)
c.*1334G>T (n.*1334G>T)
c.1084G>T (p.Glu362Ter)
c.1420G>T (p.Glu474Ter)
c.1600G>T (p.Glu534Ter)
c.1267G>T (p.Glu423Ter)
n.221+1152C>A
 ClinVar dbSNP
7g.117559582A>CCA368984668CFTR,CFTR-AS1c.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
7g.117559582A>GCA368984669CFTR,CFTR-AS1c.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
7g.117559582A>TCA368984672CFTR,CFTR-AS1c.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
7g.117559585delCA2695208324CFTR,CFTR-AS1c.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
7g.117559583A>CCA368984673CFTR,CFTR-AS1c.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
7g.117559583A>GCA457228855CFTR,CFTR-AS1c.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
7g.117559583A>TCA368984675CFTR,CFTR-AS1c.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
7g.117559583_117559594delCA2580611908CFTR,CFTR-AS1c.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
7g.117559584A>CCA368984677CFTR,CFTR-AS1c.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
7g.117559584A>GCA368984678CFTR,CFTR-AS1c.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
7g.117559584A>TCA368984680CFTR,CFTR-AS1c.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
7g.117559585A>CCA368984687CFTR,CFTR-AS1c.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
7g.117559585A>GCA368984689CFTR,CFTR-AS1c.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
7g.117559585A>TCA368984690CFTR,CFTR-AS1c.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
7g.117559587_117559591dupCA2695208325CFTR,CFTR-AS1c.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
7g.117559586T>ACA368984695CFTR,CFTR-AS1c.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
7g.117559586T>CCA457228858CFTR,CFTR-AS1c.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
7g.117559586T>GCA368984696CFTR,CFTR-AS1c.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
7g.117559586_117559589delinsTATCCA1737384592CFTR,CFTR-AS1c.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
7g.117559587A=CA1737384615CFTR,CFTR-AS1c.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=
7g.117559587A>CCA326519CFTR,CFTR-AS1c.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
7g.117559587A>GCA254110CFTR,CFTR-AS1c.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
7g.117559587A>TCA368984703CFTR,CFTR-AS1c.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
7g.117559590_117559592delCA340628CFTR,CFTR-AS1c.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
7g.117559587_117559594delinsATCATCTTCA1737384602CFTR,CFTR-AS1c.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
7g.117559588T>ACA368984704CFTR,CFTR-AS1c.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
7g.117559588T>CCA326521CFTR,CFTR-AS1c.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
7g.117559588T>GCA326523CFTR,CFTR-AS1c.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
7g.117559588T=CA1737384626CFTR,CFTR-AS1c.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=
7g.117559588_117559592delinsTCATCCA1737384635CFTR,CFTR-AS1c.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
7g.117559588_117559595delinsTCATCTTTCA1737384633CFTR,CFTR-AS1c.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
7g.117559589_117559595delCA918111823CFTR,CFTR-AS1c.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
7g.117559589C>ACA4451014CFTR,CFTR-AS1c.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
7g.117559589C=CA1737384649CFTR,CFTR-AS1c.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=
7g.117559589C>GCA326525CFTR,CFTR-AS1c.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
7g.117559589C>TCA457228860CFTR,CFTR-AS1c.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
7g.117559589_117559592delCA918111825CFTR,CFTR-AS1c.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
7g.117559589_117559595delinsACA164967764CFTR,CFTR-AS1c.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
7g.117559589_117559595delinsGCA164967765CFTR,CFTR-AS1c.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
7g.117559590A=CA1737384659CFTR,CFTR-AS1c.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=
7g.117559590A>CCA368984707CFTR,CFTR-AS1c.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
7g.117559590A>GCA274056CFTR,CFTR-AS1c.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
7g.117559590A>TCA368984708CFTR,CFTR-AS1c.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
7g.117559590_117559593delinsATCTCA1737384661CFTR,CFTR-AS1c.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
7g.117559591T>ACA368984709CFTR,CFTR-AS1c.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
7g.117559591T>CCA368984710CFTR,CFTR-AS1c.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
7g.117559591T>GCA368984712CFTR,CFTR-AS1c.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
7g.117559592_117559593dupCA918111826CFTR,CFTR-AS1c.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
7g.117559592_117559594dupCA1737384675CFTR,CFTR-AS1c.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
7g.117559592_117559594delCA118639CFTR,CFTR-AS1c.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
7g.[117559592_117559594del;117610610T>C]CA913203342CFTRc.[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])
7g.117559591_117559592insACA2695208328CFTR,CFTR-AS1c.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
7g.117559592C>ACA457228868CFTR,CFTR-AS1c.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
7g.117559592C>GCA368984720CFTR,CFTR-AS1c.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
7g.117559592C>TCA457228866CFTR,CFTR-AS1c.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
7g.117559592_117559593delinsCTCA1737384680CFTR,CFTR-AS1c.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
7g.117559592_117559593delinsTCCA164967774CFTR,CFTR-AS1c.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
7g.117559592_117559595delinsCTTTCA1737384679CFTR,CFTR-AS1c.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
7g.117559594_117559605delCA2695208327CFTR,CFTR-AS1c.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
7g.117559593T>ACA368984722CFTR,CFTR-AS1c.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
7g.117559593T>CCA4451016CFTR,CFTR-AS1c.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
7g.117559593T>GCA4451015CFTR,CFTR-AS1c.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
7g.117559593T=CA1737384687CFTR,CFTR-AS1c.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=
7g.117559593_117559595delCA164967779CFTR,CFTR-AS1c.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
7g.117559595delCA918111829CFTR,CFTR-AS1c.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
7g.117559594T>ACA368984727CFTR,CFTR-AS1c.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
7g.117559594T>CCA326527CFTR,CFTR-AS1c.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
7g.117559594T>GCA146695CFTR,CFTR-AS1c.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
7g.[117559594T>G;117642472G>A]CA2573102335CFTRc.[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])
7g.117559594T=CA1737384691CFTR,CFTR-AS1c.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=
7g.117559595T>ACA368984730CFTR,CFTR-AS1c.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
7g.117559595T>CCA457228869CFTR,CFTR-AS1c.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
7g.117559595T>GCA368984737CFTR,CFTR-AS1c.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
7g.117559595T=CA1737384703CFTR,CFTR-AS1c.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=
7g.117559596G>ACA368984741CFTR,CFTR-AS1c.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
7g.117559596G>CCA368984742CFTR,CFTR-AS1c.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
7g.117559596G=CA1737384709CFTR,CFTR-AS1c.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=
7g.117559596G>TCA368984744CFTR,CFTR-AS1c.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
7g.117559597G>ACA368984749CFTR,CFTR-AS1c.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
7g.117559597G>CCA368984748CFTR,CFTR-AS1c.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
7g.117559597G>TCA368984747CFTR,CFTR-AS1c.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
7g.117559598T>ACA457228870CFTR,CFTR-AS1c.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
7g.117559598T>CCA457228871CFTR,CFTR-AS1c.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
7g.117559598T>GCA457228872CFTR,CFTR-AS1c.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
7g.117559599delCA2573130180CFTR,CFTR-AS1c.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
7g.117559599G>ACA4451017CFTR,CFTR-AS1c.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
7g.117559599G>CCA368984755CFTR,CFTR-AS1c.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
7g.117559599G=CA1737384714CFTR,CFTR-AS1c.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=
7g.117559599G>TCA368984752CFTR,CFTR-AS1c.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
7g.117559599_117559601delinsGTTCA1737384717CFTR,CFTR-AS1c.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
7g.117559600T>ACA368984757CFTR,CFTR-AS1c.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
7g.117559600T>CCA368984758CFTR,CFTR-AS1c.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
7g.117559600T>GCA368984761CFTR,CFTR-AS1c.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
7g.117559601_117559602delCA913190000CFTR,CFTR-AS1c.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
7g.117559601T>ACA457228873CFTR,CFTR-AS1c.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
7g.117559601T>CCA457228874CFTR,CFTR-AS1c.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
7g.117559601T>GCA457228875CFTR,CFTR-AS1c.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
7g.117559602T>ACA368984763CFTR,CFTR-AS1c.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
7g.117559602T>CCA368984766CFTR,CFTR-AS1c.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
7g.117559602T>GCA368984767CFTR,CFTR-AS1c.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
7g.117559603C>ACA368984769CFTR,CFTR-AS1c.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
7g.117559603C>GCA368984771CFTR,CFTR-AS1c.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
7g.117559603C>TCA368984774CFTR,CFTR-AS1c.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
7g.117559603_117559604insTGAAACCA2579000011CFTR,CFTR-AS1c.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
7g.117559604C>ACA457228876CFTR,CFTR-AS1c.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
7g.117559604C>GCA457228877CFTR,CFTR-AS1c.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
7g.117559604C>TCA457228878CFTR,CFTR-AS1c.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
7g.117559605T>ACA368984781CFTR,CFTR-AS1c.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
7g.117559605T>CCA368984782CFTR,CFTR-AS1c.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
7g.117559605T>GCA368984784CFTR,CFTR-AS1c.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
7g.117559605T=CA1737384729CFTR,CFTR-AS1c.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=
7g.117559606A=CA1737384736CFTR,CFTR-AS1c.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=
7g.117559606A>CCA368984787CFTR,CFTR-AS1c.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
7g.117559606A>GCA164967788CFTR,CFTR-AS1c.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
7g.117559606A>TCA368984789CFTR,CFTR-AS1c.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
7g.117559610_117559612delCA2579000018CFTR,CFTR-AS1c.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
7g.117559607T>ACA368984793CFTR,CFTR-AS1c.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
7g.117559607T>CCA457228879CFTR,CFTR-AS1c.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
7g.117559607T>GCA368984796CFTR,CFTR-AS1c.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
7g.117559608G>ACA368984799CFTR,CFTR-AS1c.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
7g.117559608G>CCA368984801CFTR,CFTR-AS1c.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
7g.117559608G=CA1737384739CFTR,CFTR-AS1c.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=
7g.117559608G>TCA4451018CFTR,CFTR-AS1c.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
7g.117559609A=CA1737384743CFTR,CFTR-AS1c.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=
7g.117559609A>CCA368984804CFTR,CFTR-AS1c.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
7g.117559609A>GCA326529CFTR,CFTR-AS1c.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
7g.117559609A>TCA368984805CFTR,CFTR-AS1c.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
7g.117559610T>ACA368984806CFTR,CFTR-AS1c.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
7g.117559610T>CCA457228880CFTR,CFTR-AS1c.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
7g.117559610T>GCA368984807CFTR,CFTR-AS1c.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
7g.117559610_117559623delinsTGAATATAGATACACA1737384750CFTR,CFTR-AS1c.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
7g.117559611G>ACA368984810CFTR,CFTR-AS1c.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
7g.117559611G>CCA368984812CFTR,CFTR-AS1c.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
7g.117559611G=CA1737384761CFTR,CFTR-AS1c.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=
7g.117559611G>TCA368984808CFTR,CFTR-AS1c.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
7g.117559614_117559626delCA577218121CFTR,CFTR-AS1c.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
7g.117559612A=CA1737384768CFTR,CFTR-AS1c.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=
7g.117559612A>CCA368984813CFTR,CFTR-AS1c.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
7g.117559612A>GCA368984815CFTR,CFTR-AS1c.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
7g.117559612A>TCA368984816CFTR,CFTR-AS1c.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
7g.117559612_117559614delinsAATCA1737384767CFTR,CFTR-AS1c.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
7g.117559613A=CA1737384779CFTR,CFTR-AS1c.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=
7g.117559613A>CCA164967800CFTR,CFTR-AS1c.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
7g.117559613A>GCA457228881CFTR,CFTR-AS1c.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
7g.117559613A>TCA368984820CFTR,CFTR-AS1c.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
7g.117559616_117559617delCA325535CFTR,CFTR-AS1c.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
7g.117559614T>ACA368984826CFTR,CFTR-AS1c.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
7g.117559614T>CCA4451019CFTR,CFTR-AS1c.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
7g.117559614T>GCA368984829CFTR,CFTR-AS1c.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
7g.117559614T=CA1737384784CFTR,CFTR-AS1c.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=
7g.117559615A=CA1737384789CFTR,CFTR-AS1c.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=
7g.117559615A>CCA368984831CFTR,CFTR-AS1c.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
7g.117559615A>GCA368984834CFTR,CFTR-AS1c.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
7g.117559615A>TCA368984837CFTR,CFTR-AS1c.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
7g.117559618_117559621delCA2580076322CFTR,CFTR-AS1c.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
7g.117559616T>ACA368984844CFTR,CFTR-AS1c.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
7g.117559616T>CCA4451020CFTR,CFTR-AS1c.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
7g.117559616T>GCA368984841CFTR,CFTR-AS1c.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
7g.117559616T=CA1737384797CFTR,CFTR-AS1c.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=
7g.117559616_117559619delinsTAGACA1737384801CFTR,CFTR-AS1c.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
7g.117559617A=CA1737384814CFTR,CFTR-AS1c.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=
7g.117559617A>CCA457228882CFTR,CFTR-AS1c.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
7g.117559617A>GCA326530CFTR,CFTR-AS1c.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
7g.117559617A>TCA368984847CFTR,CFTR-AS1c.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
7g.117559617_117559619delinsTCA1139660108CFTR,CFTR-AS1c.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
7g.117559618_117559619delCA913190001CFTR,CFTR-AS1c.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
7g.117559618G>ACA368984849CFTR,CFTR-AS1c.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
7g.117559618G>CCA368984850CFTR,CFTR-AS1c.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
7g.117559618G>TCA368984852CFTR,CFTR-AS1c.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
7g.117559619A>CCA368984854CFTR,CFTR-AS1c.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
7g.117559619A>GCA457228883CFTR,CFTR-AS1c.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
7g.117559619A>TCA368984855CFTR,CFTR-AS1c.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
7g.117559620T>ACA368984858CFTR,CFTR-AS1c.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
7g.117559620T>CCA368984860CFTR,CFTR-AS1c.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
7g.117559620T>GCA368984863CFTR,CFTR-AS1c.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
7g.117559621A=CA1737384820CFTR,CFTR-AS1c.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=
7g.117559621A>CCA368984865CFTR,CFTR-AS1c.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
7g.117559621A>GCA368984867CFTR,CFTR-AS1c.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
7g.117559621A>TCA368984869CFTR,CFTR-AS1c.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
7g.117559622C>ACA368984871CFTR,CFTR-AS1c.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
7g.117559622C>GCA368984878CFTR,CFTR-AS1c.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
7g.117559622C>TCA457228884CFTR,CFTR-AS1c.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
7g.117559623A=CA1737384829CFTR,CFTR-AS1c.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=
7g.117559623A>CCA457228886CFTR,CFTR-AS1c.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
7g.117559623A>GCA368984882CFTR,CFTR-AS1c.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
7g.117559623A>TCA368984884CFTR,CFTR-AS1c.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
7g.117559624G>ACA368984886CFTR,CFTR-AS1c.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
7g.117559624G>CCA368984890CFTR,CFTR-AS1c.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
7g.117559624G>TCA368984888CFTR,CFTR-AS1c.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
7g.117559625A>CCA368984892CFTR,CFTR-AS1c.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
7g.117559625A>GCA457228887CFTR,CFTR-AS1c.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
7g.117559625A>TCA368984893CFTR,CFTR-AS1c.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
7g.117559626A=CA1737384833CFTR,CFTR-AS1c.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=
7g.117559626A>CCA368984894CFTR,CFTR-AS1c.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
7g.117559626A>GCA368984895CFTR,CFTR-AS1c.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
7g.117559626A>TCA368984896CFTR,CFTR-AS1c.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
7g.117559627G>ACA368984897CFTR,CFTR-AS1c.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
7g.117559627G>CCA368984898CFTR,CFTR-AS1c.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
7g.117559627G=CA1737384837CFTR,CFTR-AS1c.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=
7g.117559627G>TCA368984899CFTR,CFTR-AS1c.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
7g.117559628C>ACA368984901CFTR,CFTR-AS1c.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
7g.117559628C=CA1737384842CFTR,CFTR-AS1c.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=
7g.117559628C>GCA368984903CFTR,CFTR-AS1c.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
7g.117559628C>TCA4451021CFTR,CFTR-AS1c.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
7g.117559629G>ACA221008CFTR,CFTR-AS1c.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
7g.117559629G>CCA164967824CFTR,CFTR-AS1c.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
7g.117559629G=CA1737384849CFTR,CFTR-AS1c.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=
7g.117559629G>TCA325545CFTR,CFTR-AS1c.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
7g.117559630T>ACA368984911CFTR,CFTR-AS1c.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
7g.117559630T>CCA368984912CFTR,CFTR-AS1c.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
7g.117559630T>GCA368984915CFTR,CFTR-AS1c.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
7g.117559630T=CA1737384853CFTR,CFTR-AS1c.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=
7g.117559631C>ACA457228889CFTR,CFTR-AS1c.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
7g.117559631C=CA1737384859CFTR,CFTR-AS1c.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=
7g.117559631C>GCA457228890CFTR,CFTR-AS1c.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
7g.117559631C>TCA4451022CFTR,CFTR-AS1c.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
7g.117559632A=CA1737384866CFTR,CFTR-AS1c.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=
7g.117559632A>CCA368984920CFTR,CFTR-AS1c.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
7g.117559632A>GCA368984923CFTR,CFTR-AS1c.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
7g.117559632A>TCA368984924CFTR,CFTR-AS1c.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
7g.117559633T>ACA368984926CFTR,CFTR-AS1c.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
7g.117559633T>CCA368984928CFTR,CFTR-AS1c.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
7g.117559633T>GCA368984930CFTR,CFTR-AS1c.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
7g.117559634C>ACA457228896CFTR,CFTR-AS1c.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
7g.117559634C=CA1737384868CFTR,CFTR-AS1c.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=
7g.117559634C>GCA4451023CFTR,CFTR-AS1c.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
7g.117559634C>TCA457228898CFTR,CFTR-AS1c.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
7g.117559635A=CA1737384870CFTR,CFTR-AS1c.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=
7g.117559635A>CCA368984942CFTR,CFTR-AS1c.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
7g.117559635A>GCA368984938CFTR,CFTR-AS1c.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
7g.117559635A>TCA368984935CFTR,CFTR-AS1c.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
7g.117559636A>CCA368984944CFTR,CFTR-AS1c.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
7g.117559636A>GCA368984945CFTR,CFTR-AS1c.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
7g.117559636A>TCA368984947CFTR,CFTR-AS1c.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
7g.117559637A>CCA368984949CFTR,CFTR-AS1c.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
7g.117559637A>GCA457228906CFTR,CFTR-AS1c.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
7g.117559637A>TCA368984950CFTR,CFTR-AS1c.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
7g.117559638G>ACA368984958CFTR,CFTR-AS1c.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
7g.117559638G>CCA368984955CFTR,CFTR-AS1c.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
7g.117559638G>TCA368984953CFTR,CFTR-AS1c.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
7g.117559639C>ACA368984959CFTR,CFTR-AS1c.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
7g.117559639C>GCA368984962CFTR,CFTR-AS1c.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
7g.117559639C>TCA368984966CFTR,CFTR-AS1c.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
7g.117559640A>CCA457228913CFTR,CFTR-AS1c.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
7g.117559640A>GCA457228915CFTR,CFTR-AS1c.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
7g.117559640A>TCA457228916CFTR,CFTR-AS1c.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

Number of alleles fetched