Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559500_117559508delCA2695208318CFTR,CFTR-AS1c.1429_1437del (p.Pro477_Glu479del)
c.*1143_*1151del (n.*1143_*1151del)
c.1246_1254del (p.Pro416_Glu418del)
c.1424_1432del (p.Ala475_Arg477del)
c.*1253_*1261del (n.*1253_*1261del)
c.1003_1011del (p.Pro335_Glu337del)
c.1339_1347del (p.Pro447_Glu449del)
c.1519_1527del (p.Pro507_Glu509del)
c.1186_1194del (p.Pro396_Glu398del)
n.221+1228_221+1236del
7g.117559503T>ACA368984391CFTR,CFTR-AS1c.1432T>A (p.Ser478Thr)
c.*1146T>A (n.*1146T>A)
c.1249T>A (p.Ser417Thr)
c.1427T>A (p.Phe476Tyr)
c.*1256T>A (n.*1256T>A)
c.1006T>A (p.Ser336Thr)
c.1342T>A (p.Ser448Thr)
c.1522T>A (p.Ser508Thr)
c.1189T>A (p.Ser397Thr)
n.221+1230A>T
7g.117559503T>CCA368984389CFTR,CFTR-AS1c.1432T>C (p.Ser478Pro)
c.*1146T>C (n.*1146T>C)
c.1249T>C (p.Ser417Pro)
c.1427T>C (p.Phe476Ser)
c.*1256T>C (n.*1256T>C)
c.1006T>C (p.Ser336Pro)
c.1342T>C (p.Ser448Pro)
c.1522T>C (p.Ser508Pro)
c.1189T>C (p.Ser397Pro)
n.221+1230A>G
7g.117559503T>GCA368984390CFTR,CFTR-AS1c.1432T>G (p.Ser478Ala)
c.*1146T>G (n.*1146T>G)
c.1249T>G (p.Ser417Ala)
c.1427T>G (p.Phe476Cys)
c.*1256T>G (n.*1256T>G)
c.1006T>G (p.Ser336Ala)
c.1342T>G (p.Ser448Ala)
c.1522T>G (p.Ser508Ala)
c.1189T>G (p.Ser397Ala)
n.221+1230A>C
7g.117559503_117559505delinsTCACA1737384224CFTR,CFTR-AS1c.1432_1434delinsTCA (p.Ser478=)
c.*1146_*1148delinsTCA (n.*1146_*1148delinsTCA)
c.1249_1251delinsTCA (p.Ser417=)
c.1427_1429delinsTCA (p.Phe476=)
c.*1256_*1258delinsTCA (n.*1256_*1258delinsTCA)
c.1006_1008delinsTCA (p.Ser336=)
c.1342_1344delinsTCA (p.Ser448=)
c.1522_1524delinsTCA (p.Ser508=)
c.1189_1191delinsTCA (p.Ser397=)
n.221+1228_221+1230delinsTGA
7g.117559504C>ACA368984393CFTR,CFTR-AS1c.1433C>A (p.Ser478Ter)
c.*1147C>A (n.*1147C>A)
c.1250C>A (p.Ser417Ter)
c.1428C>A (p.Phe476Leu)
c.*1257C>A (n.*1257C>A)
c.1007C>A (p.Ser336Ter)
c.1343C>A (p.Ser448Ter)
c.1523C>A (p.Ser508Ter)
c.1190C>A (p.Ser397Ter)
n.221+1229G>T
7g.117559504C>GCA368984394CFTR,CFTR-AS1c.1433C>G (p.Ser478Ter)
c.*1147C>G (n.*1147C>G)
c.1250C>G (p.Ser417Ter)
c.1428C>G (p.Phe476Leu)
c.*1257C>G (n.*1257C>G)
c.1007C>G (p.Ser336Ter)
c.1343C>G (p.Ser448Ter)
c.1523C>G (p.Ser508Ter)
c.1190C>G (p.Ser397Ter)
n.221+1229G>C
7g.117559504C>TCA368984396CFTR,CFTR-AS1c.1433C>T (p.Ser478Leu)
c.*1147C>T (n.*1147C>T)
c.1250C>T (p.Ser417Leu)
c.1428C>T (p.Phe476=)
c.*1257C>T (n.*1257C>T)
c.1007C>T (p.Ser336Leu)
c.1343C>T (p.Ser448Leu)
c.1523C>T (p.Ser508Leu)
c.1190C>T (p.Ser397Leu)
n.221+1229G>A
 ClinVar
7g.117559504_117559505delCA326481CFTR,CFTR-AS1c.1433_1434del (p.Ser478Ter)
c.*1147_*1148del (n.*1147_*1148del)
c.1250_1251del (p.Ser417Ter)
c.1428_1429del (p.Phe476LeufsTer?)
c.*1257_*1258del (n.*1257_*1258del)
c.1007_1008del (p.Ser336Ter)
c.1343_1344del (p.Ser448Ter)
c.1523_1524del (p.Ser508Ter)
c.1190_1191del (p.Ser397Ter)
n.221+1228_221+1229del
 dbSNP
7g.117559505A>CCA457228765CFTR,CFTR-AS1c.1434A>C (p.Ser478=)
c.*1148A>C (n.*1148A>C)
c.1251A>C (p.Ser417=)
c.1429A>C (p.Arg477=)
c.*1258A>C (n.*1258A>C)
c.1008A>C (p.Ser336=)
c.1344A>C (p.Ser448=)
c.1524A>C (p.Ser508=)
c.1191A>C (p.Ser397=)
n.221+1228T>G
 ClinVar
7g.117559505A>GCA457228766CFTR,CFTR-AS1c.1434A>G (p.Ser478=)
c.*1148A>G (n.*1148A>G)
c.1251A>G (p.Ser417=)
c.1429A>G (p.Arg477Gly)
c.*1258A>G (n.*1258A>G)
c.1008A>G (p.Ser336=)
c.1344A>G (p.Ser448=)
c.1524A>G (p.Ser508=)
c.1191A>G (p.Ser397=)
n.221+1228T>C
7g.117559505A>TCA457228767CFTR,CFTR-AS1c.1434A>T (p.Ser478=)
c.*1148A>T (n.*1148A>T)
c.1251A>T (p.Ser417=)
c.1429A>T (p.Arg477Ter)
c.*1258A>T (n.*1258A>T)
c.1008A>T (p.Ser336=)
c.1344A>T (p.Ser448=)
c.1524A>T (p.Ser508=)
c.1191A>T (p.Ser397=)
n.221+1228T>A
7g.117559506G>ACA368984399CFTR,CFTR-AS1c.1435G>A (p.Glu479Lys)
c.*1149G>A (n.*1149G>A)
c.1252G>A (p.Glu418Lys)
c.1430G>A (p.Arg477Lys)
c.*1259G>A (n.*1259G>A)
c.1009G>A (p.Glu337Lys)
c.1345G>A (p.Glu449Lys)
c.1525G>A (p.Glu509Lys)
c.1192G>A (p.Glu398Lys)
n.221+1227C>T
7g.117559506G>CCA368984402CFTR,CFTR-AS1c.1435G>C (p.Glu479Gln)
c.*1149G>C (n.*1149G>C)
c.1252G>C (p.Glu418Gln)
c.1430G>C (p.Arg477Thr)
c.*1259G>C (n.*1259G>C)
c.1009G>C (p.Glu337Gln)
c.1345G>C (p.Glu449Gln)
c.1525G>C (p.Glu509Gln)
c.1192G>C (p.Glu398Gln)
n.221+1227C>G
7g.117559506G=CA1737384230CFTR,CFTR-AS1c.1435G= (p.Glu479=)
c.*1149G= (n.*1149G=)
c.1252G= (p.Glu418=)
c.1430G= (p.Arg477=)
c.*1259G= (n.*1259G=)
c.1009G= (p.Glu337=)
c.1345G= (p.Glu449=)
c.1525G= (p.Glu509=)
c.1192G= (p.Glu398=)
n.221+1227C=
7g.117559506G>TCA326482CFTR,CFTR-AS1c.1435G>T (p.Glu479Ter)
c.*1149G>T (n.*1149G>T)
c.1252G>T (p.Glu418Ter)
c.1430G>T (p.Arg477Ile)
c.*1259G>T (n.*1259G>T)
c.1009G>T (p.Glu337Ter)
c.1345G>T (p.Glu449Ter)
c.1525G>T (p.Glu509Ter)
c.1192G>T (p.Glu398Ter)
n.221+1227C>A
 ClinVar dbSNP gnomAD v4
7g.117559507A=CA1737384233CFTR,CFTR-AS1c.1436A= (p.Glu479=)
c.*1150A= (n.*1150A=)
c.1253A= (p.Glu418=)
c.1431A= (p.Arg477=)
c.*1260A= (n.*1260A=)
c.1010A= (p.Glu337=)
c.1346A= (p.Glu449=)
c.1526A= (p.Glu509=)
c.1193A= (p.Glu398=)
n.221+1226T=
7g.117559507A>CCA10605638CFTR,CFTR-AS1c.1436A>C (p.Glu479Ala)
c.*1150A>C (n.*1150A>C)
c.1253A>C (p.Glu418Ala)
c.1431A>C (p.Arg477Ser)
c.*1260A>C (n.*1260A>C)
c.1010A>C (p.Glu337Ala)
c.1346A>C (p.Glu449Ala)
c.1526A>C (p.Glu509Ala)
c.1193A>C (p.Glu398Ala)
n.221+1226T>G
 ClinVar dbSNP gnomAD v4
7g.117559507A>GCA368984405CFTR,CFTR-AS1c.1436A>G (p.Glu479Gly)
c.*1150A>G (n.*1150A>G)
c.1253A>G (p.Glu418Gly)
c.1431A>G (p.Arg477=)
c.*1260A>G (n.*1260A>G)
c.1010A>G (p.Glu337Gly)
c.1346A>G (p.Glu449Gly)
c.1526A>G (p.Glu509Gly)
c.1193A>G (p.Glu398Gly)
n.221+1226T>C
 dbSNP gnomAD v2 gnomAD v4
7g.117559507A>TCA368984407CFTR,CFTR-AS1c.1436A>T (p.Glu479Val)
c.*1150A>T (n.*1150A>T)
c.1253A>T (p.Glu418Val)
c.1431A>T (p.Arg477Ser)
c.*1260A>T (n.*1260A>T)
c.1010A>T (p.Glu337Val)
c.1346A>T (p.Glu449Val)
c.1526A>T (p.Glu509Val)
c.1193A>T (p.Glu398Val)
n.221+1226T>A
7g.117559508G>ACA457228768CFTR,CFTR-AS1c.1437G>A (p.Glu479=)
c.*1151G>A (n.*1151G>A)
c.1254G>A (p.Glu418=)
c.1432G>A (p.Gly478Arg)
c.*1261G>A (n.*1261G>A)
c.1011G>A (p.Glu337=)
c.1347G>A (p.Glu449=)
c.1527G>A (p.Glu509=)
c.1194G>A (p.Glu398=)
n.221+1225C>T
 ClinVar dbSNP gnomAD v4
7g.117559508G>CCA4451005CFTR,CFTR-AS1c.1437G>C (p.Glu479Asp)
c.*1151G>C (n.*1151G>C)
c.1254G>C (p.Glu418Asp)
c.1432G>C (p.Gly478Arg)
c.*1261G>C (n.*1261G>C)
c.1011G>C (p.Glu337Asp)
c.1347G>C (p.Glu449Asp)
c.1527G>C (p.Glu509Asp)
c.1194G>C (p.Glu398Asp)
n.221+1225C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559508G=CA1737384241CFTR,CFTR-AS1c.1437G= (p.Glu479=)
c.*1151G= (n.*1151G=)
c.1254G= (p.Glu418=)
c.1432G= (p.Gly478=)
c.*1261G= (n.*1261G=)
c.1011G= (p.Glu337=)
c.1347G= (p.Glu449=)
c.1527G= (p.Glu509=)
c.1194G= (p.Glu398=)
n.221+1225C=
7g.117559508G>TCA368984408CFTR,CFTR-AS1c.1437G>T (p.Glu479Asp)
c.*1151G>T (n.*1151G>T)
c.1254G>T (p.Glu418Asp)
c.1432G>T (p.Gly478Trp)
c.*1261G>T (n.*1261G>T)
c.1011G>T (p.Glu337Asp)
c.1347G>T (p.Glu449Asp)
c.1527G>T (p.Glu509Asp)
c.1194G>T (p.Glu398Asp)
n.221+1225C>A
7g.117559510delCA2695208319CFTR,CFTR-AS1c.1439del (p.Gly480ValfsTer?)
c.*1153del (n.*1153del)
c.1256del (p.Gly419ValfsTer?)
c.1434del (p.Ter479LysextTer?)
c.*1263del (n.*1263del)
c.1013del (p.Gly338ValfsTer?)
c.1349del (p.Gly450ValfsTer?)
c.1529del (p.Gly510ValfsTer?)
c.1196del (p.Gly399ValfsTer?)
n.221+1225del
7g.117559508_117559509insACA2573335088CFTR,CFTR-AS1c.1437_1438insA (p.Gly480ArgfsTer2)
c.*1151_*1152insA (n.*1151_*1152insA)
c.1254_1255insA (p.Gly419ArgfsTer2)
c.1432_1433insA (p.Gly478GlufsTer?)
c.*1261_*1262insA (n.*1261_*1262insA)
c.1011_1012insA (p.Gly338ArgfsTer2)
c.1347_1348insA (p.Gly450ArgfsTer2)
c.1527_1528insA (p.Gly510ArgfsTer2)
c.1194_1195insA (p.Gly399ArgfsTer2)
n.221+1224_221+1225insT
7g.117559509G>ACA326484CFTR,CFTR-AS1c.1438G>A (p.Gly480Ser)
c.*1152G>A (n.*1152G>A)
c.1255G>A (p.Gly419Ser)
c.1433G>A (p.Gly478Glu)
c.*1262G>A (n.*1262G>A)
c.1012G>A (p.Gly338Ser)
c.1348G>A (p.Gly450Ser)
c.1528G>A (p.Gly510Ser)
c.1195G>A (p.Gly399Ser)
n.221+1224C>T
 ClinVar dbSNP
7g.117559509G>CCA368984411CFTR,CFTR-AS1c.1438G>C (p.Gly480Arg)
c.*1152G>C (n.*1152G>C)
c.1255G>C (p.Gly419Arg)
c.1433G>C (p.Gly478Ala)
c.*1262G>C (n.*1262G>C)
c.1012G>C (p.Gly338Arg)
c.1348G>C (p.Gly450Arg)
c.1528G>C (p.Gly510Arg)
c.1195G>C (p.Gly399Arg)
n.221+1224C>G
7g.117559509G=CA1737384253CFTR,CFTR-AS1c.1438G= (p.Gly480=)
c.*1152G= (n.*1152G=)
c.1255G= (p.Gly419=)
c.1433G= (p.Gly478=)
c.*1262G= (n.*1262G=)
c.1012G= (p.Gly338=)
c.1348G= (p.Gly450=)
c.1528G= (p.Gly510=)
c.1195G= (p.Gly399=)
n.221+1224C=
7g.117559509G>TCA221007CFTR,CFTR-AS1c.1438G>T (p.Gly480Cys)
c.*1152G>T (n.*1152G>T)
c.1255G>T (p.Gly419Cys)
c.1433G>T (p.Gly478Val)
c.*1262G>T (n.*1262G>T)
c.1012G>T (p.Gly338Cys)
c.1348G>T (p.Gly450Cys)
c.1528G>T (p.Gly510Cys)
c.1195G>T (p.Gly399Cys)
n.221+1224C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559509delinsACCA1139655061CFTR,CFTR-AS1c.1438delinsAC (p.Gly480ThrfsTer2)
c.*1152delinsAC (n.*1152delinsAC)
c.1255delinsAC (p.Gly419ThrfsTer2)
c.1433delinsAC (p.Gly478AspfsTer?)
c.*1262delinsAC (n.*1262delinsAC)
c.1012delinsAC (p.Gly338ThrfsTer2)
c.1348delinsAC (p.Gly450ThrfsTer2)
c.1528delinsAC (p.Gly510ThrfsTer2)
c.1195delinsAC (p.Gly399ThrfsTer2)
n.221+1224delinsGT
7g.117559509delinsATCA2573335089CFTR,CFTR-AS1c.1438delinsAT (p.Gly480MetfsTer2)
c.*1152delinsAT (n.*1152delinsAT)
c.1255delinsAT (p.Gly419MetfsTer2)
c.1433delinsAT (p.Gly478AspfsTer?)
c.*1262delinsAT (n.*1262delinsAT)
c.1012delinsAT (p.Gly338MetfsTer2)
c.1348delinsAT (p.Gly450MetfsTer2)
c.1528delinsAT (p.Gly510MetfsTer2)
c.1195delinsAT (p.Gly399MetfsTer2)
n.221+1224delinsAT
7g.117559509delinsCCCA1139532033CFTR,CFTR-AS1c.1438delinsCC (p.Gly480ProfsTer2)
c.*1152delinsCC (n.*1152delinsCC)
c.1255delinsCC (p.Gly419ProfsTer2)
c.1433delinsCC (p.Gly478AlafsTer?)
c.*1262delinsCC (n.*1262delinsCC)
c.1012delinsCC (p.Gly338ProfsTer2)
c.1348delinsCC (p.Gly450ProfsTer2)
c.1528delinsCC (p.Gly510ProfsTer2)
c.1195delinsCC (p.Gly399ProfsTer2)
n.221+1224delinsGG
7g.117559509_117559510insTCA2573332261CFTR,CFTR-AS1c.1438_1439insT (p.Gly480ValfsTer2)
c.*1152_*1153insT (n.*1152_*1153insT)
c.1255_1256insT (p.Gly419ValfsTer2)
c.1433_1434insT (p.Ter479ValextTer?)
c.*1262_*1263insT (n.*1262_*1263insT)
c.1012_1013insT (p.Gly338ValfsTer2)
c.1348_1349insT (p.Gly450ValfsTer2)
c.1528_1529insT (p.Gly510ValfsTer2)
c.1195_1196insT (p.Gly399ValfsTer2)
n.221+1223_221+1224insA
7g.117559510G>ACA326486CFTR,CFTR-AS1c.1439G>A (p.Gly480Asp)
c.*1153G>A (n.*1153G>A)
c.1256G>A (p.Gly419Asp)
c.1434G>A (p.Gly478=)
c.*1263G>A (n.*1263G>A)
c.1013G>A (p.Gly338Asp)
c.1349G>A (p.Gly450Asp)
c.1529G>A (p.Gly510Asp)
c.1196G>A (p.Gly399Asp)
n.221+1223C>T
 ClinVar dbSNP gnomAD v4
7g.117559510G>CCA368984414CFTR,CFTR-AS1c.1439G>C (p.Gly480Ala)
c.*1153G>C (n.*1153G>C)
c.1256G>C (p.Gly419Ala)
c.1434G>C (p.Gly478=)
c.*1263G>C (n.*1263G>C)
c.1013G>C (p.Gly338Ala)
c.1349G>C (p.Gly450Ala)
c.1529G>C (p.Gly510Ala)
c.1196G>C (p.Gly399Ala)
n.221+1223C>G
7g.117559510G=CA1737384261CFTR,CFTR-AS1c.1439G= (p.Gly480=)
c.*1153G= (n.*1153G=)
c.1256G= (p.Gly419=)
c.1434G= (p.Gly478=)
c.*1263G= (n.*1263G=)
c.1013G= (p.Gly338=)
c.1349G= (p.Gly450=)
c.1529G= (p.Gly510=)
c.1196G= (p.Gly399=)
n.221+1223C=
7g.117559510G>TCA368984416CFTR,CFTR-AS1c.1439G>T (p.Gly480Val)
c.*1153G>T (n.*1153G>T)
c.1256G>T (p.Gly419Val)
c.1434G>T (p.Gly478=)
c.*1263G>T (n.*1263G>T)
c.1013G>T (p.Gly338Val)
c.1349G>T (p.Gly450Val)
c.1529G>T (p.Gly510Val)
c.1196G>T (p.Gly399Val)
n.221+1223C>A
 ClinVar
7g.117559511T>ACA457228769CFTR,CFTR-AS1c.1440T>A (p.Gly480=)
c.*1154T>A (n.*1154T>A)
c.1257T>A (p.Gly419=)
c.1435T>A (p.Ter479Lys)
c.*1264T>A (n.*1264T>A)
c.1014T>A (p.Gly338=)
c.1350T>A (p.Gly450=)
c.1530T>A (p.Gly510=)
c.1197T>A (p.Gly399=)
n.221+1222A>T
7g.117559511T>CCA164967688CFTR,CFTR-AS1c.1440T>C (p.Gly480=)
c.*1154T>C (n.*1154T>C)
c.1257T>C (p.Gly419=)
c.1435T>C (p.Ter479Gln)
c.*1264T>C (n.*1264T>C)
c.1014T>C (p.Gly338=)
c.1350T>C (p.Gly450=)
c.1530T>C (p.Gly510=)
c.1197T>C (p.Gly399=)
n.221+1222A>G
 dbSNP
7g.117559511T>GCA457228770CFTR,CFTR-AS1c.1440T>G (p.Gly480=)
c.*1154T>G (n.*1154T>G)
c.1257T>G (p.Gly419=)
c.1435T>G (p.Ter479Glu)
c.*1264T>G (n.*1264T>G)
c.1014T>G (p.Gly338=)
c.1350T>G (p.Gly450=)
c.1530T>G (p.Gly510=)
c.1197T>G (p.Gly399=)
n.221+1222A>C
 ClinVar dbSNP
7g.117559511T=CA1737384264CFTR,CFTR-AS1c.1440T= (p.Gly480=)
c.*1154T= (n.*1154T=)
c.1257T= (p.Gly419=)
c.1435T= (p.Ter479=)
c.*1264T= (n.*1264T=)
c.1014T= (p.Gly338=)
c.1350T= (p.Gly450=)
c.1530T= (p.Gly510=)
c.1197T= (p.Gly399=)
n.221+1222A=
7g.117559512A=CA1737384266CFTR,CFTR-AS1c.1441A= (p.Lys481=)
c.*1155A= (n.*1155A=)
c.1258A= (p.Lys420=)
c.1436A= (p.Ter479=)
c.*1265A= (n.*1265A=)
c.1015A= (p.Lys339=)
c.1351A= (p.Lys451=)
c.1531A= (p.Lys511=)
c.1198A= (p.Lys400=)
n.221+1221T=
7g.117559512A>CCA368984418CFTR,CFTR-AS1c.1441A>C (p.Lys481Gln)
c.*1155A>C (n.*1155A>C)
c.1258A>C (p.Lys420Gln)
c.1436A>C (p.Ter479Ser)
c.*1265A>C (n.*1265A>C)
c.1015A>C (p.Lys339Gln)
c.1351A>C (p.Lys451Gln)
c.1531A>C (p.Lys511Gln)
c.1198A>C (p.Lys400Gln)
n.221+1221T>G
7g.117559512A>GCA164967690CFTR,CFTR-AS1c.1441A>G (p.Lys481Glu)
c.*1155A>G (n.*1155A>G)
c.1258A>G (p.Lys420Glu)
c.1436A>G (p.Ter479=)
c.*1265A>G (n.*1265A>G)
c.1015A>G (p.Lys339Glu)
c.1351A>G (p.Lys451Glu)
c.1531A>G (p.Lys511Glu)
c.1198A>G (p.Lys400Glu)
n.221+1221T>C
 ClinVar dbSNP
7g.117559512A>TCA368984420CFTR,CFTR-AS1c.1441A>T (p.Lys481Ter)
c.*1155A>T (n.*1155A>T)
c.1258A>T (p.Lys420Ter)
c.1436A>T (p.Ter479Leu)
c.*1265A>T (n.*1265A>T)
c.1015A>T (p.Lys339Ter)
c.1351A>T (p.Lys451Ter)
c.1531A>T (p.Lys511Ter)
c.1198A>T (p.Lys400Ter)
n.221+1221T>A
7g.117559513A>CCA368984422CFTR,CFTR-AS1c.1442A>C (p.Lys481Thr)
c.*1156A>C (n.*1156A>C)
c.1259A>C (p.Lys420Thr)
c.1437A>C (p.Ter479Tyr)
c.*1266A>C (n.*1266A>C)
c.1016A>C (p.Lys339Thr)
c.1352A>C (p.Lys451Thr)
c.1532A>C (p.Lys511Thr)
c.1199A>C (p.Lys400Thr)
n.221+1220T>G
7g.117559513A>GCA368984424CFTR,CFTR-AS1c.1442A>G (p.Lys481Arg)
c.*1156A>G (n.*1156A>G)
c.1259A>G (p.Lys420Arg)
c.1437A>G (p.Ter479=)
c.*1266A>G (n.*1266A>G)
c.1016A>G (p.Lys339Arg)
c.1352A>G (p.Lys451Arg)
c.1532A>G (p.Lys511Arg)
c.1199A>G (p.Lys400Arg)
n.221+1220T>C
7g.117559513A>TCA368984425CFTR,CFTR-AS1c.1442A>T (p.Lys481Ile)
c.*1156A>T (n.*1156A>T)
c.1259A>T (p.Lys420Ile)
c.1437A>T (p.Ter479Tyr)
c.*1266A>T (n.*1266A>T)
c.1016A>T (p.Lys339Ile)
c.1352A>T (p.Lys451Ile)
c.1532A>T (p.Lys511Ile)
c.1199A>T (p.Lys400Ile)
n.221+1220T>A
7g.117559514A>CCA368984427CFTR,CFTR-AS1c.1443A>C (p.Lys481Asn)
c.*1157A>C (n.*1157A>C)
c.1260A>C (p.Lys420Asn)
c.*1A>C (n.*1A>C)
c.*1267A>C (n.*1267A>C)
c.1017A>C (p.Lys339Asn)
c.1353A>C (p.Lys451Asn)
c.1533A>C (p.Lys511Asn)
c.1200A>C (p.Lys400Asn)
n.221+1219T>G

Number of alleles fetched