Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117559437C>A | CA577217853 | CFTR,CFTR-AS1 | c.1393-27C>A (n.1393-27C>A) c.*1107-27C>A (n.*1107-27C>A) c.1210-27C>A (n.1210-27C>A) c.1388-27C>A (n.1388-27C>A) c.*1217-27C>A (n.*1217-27C>A) c.967-27C>A (n.967-27C>A) c.1303-27C>A (n.1303-27C>A) c.1483-27C>A (n.1483-27C>A) c.1150-27C>A (n.1150-27C>A) n.221+1296G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559437C= | CA1737383980 | CFTR,CFTR-AS1 | c.1393-27C= (n.1393-27C=) c.*1107-27C= (n.*1107-27C=) c.1210-27C= (n.1210-27C=) c.1388-27C= (n.1388-27C=) c.*1217-27C= (n.*1217-27C=) c.967-27C= (n.967-27C=) c.1303-27C= (n.1303-27C=) c.1483-27C= (n.1483-27C=) c.1150-27C= (n.1150-27C=) n.221+1296G= | |
7 | g.117559437C>G | CA2684618593 | CFTR,CFTR-AS1 | c.1393-27C>G (n.1393-27C>G) c.*1107-27C>G (n.*1107-27C>G) c.1210-27C>G (n.1210-27C>G) c.1388-27C>G (n.1388-27C>G) c.*1217-27C>G (n.*1217-27C>G) c.967-27C>G (n.967-27C>G) c.1303-27C>G (n.1303-27C>G) c.1483-27C>G (n.1483-27C>G) c.1150-27C>G (n.1150-27C>G) n.221+1296G>C | gnomAD v4 |
7 | g.117559437C>T | CA2715323245 | CFTR,CFTR-AS1 | c.1393-27C>T (n.1393-27C>T) c.*1107-27C>T (n.*1107-27C>T) c.1210-27C>T (n.1210-27C>T) c.1388-27C>T (n.1388-27C>T) c.*1217-27C>T (n.*1217-27C>T) c.967-27C>T (n.967-27C>T) c.1303-27C>T (n.1303-27C>T) c.1483-27C>T (n.1483-27C>T) c.1150-27C>T (n.1150-27C>T) n.221+1296G>A | dbSNP |
7 | g.117559438C>A | CA2684618594 | CFTR,CFTR-AS1 | c.1393-26C>A (n.1393-26C>A) c.*1107-26C>A (n.*1107-26C>A) c.1210-26C>A (n.1210-26C>A) c.1388-26C>A (n.1388-26C>A) c.*1217-26C>A (n.*1217-26C>A) c.967-26C>A (n.967-26C>A) c.1303-26C>A (n.1303-26C>A) c.1483-26C>A (n.1483-26C>A) c.1150-26C>A (n.1150-26C>A) n.221+1295G>T | gnomAD v4 |
7 | g.117559438C>G | CA2684618595 | CFTR,CFTR-AS1 | c.1393-26C>G (n.1393-26C>G) c.*1107-26C>G (n.*1107-26C>G) c.1210-26C>G (n.1210-26C>G) c.1388-26C>G (n.1388-26C>G) c.*1217-26C>G (n.*1217-26C>G) c.967-26C>G (n.967-26C>G) c.1303-26C>G (n.1303-26C>G) c.1483-26C>G (n.1483-26C>G) c.1150-26C>G (n.1150-26C>G) n.221+1295G>C | gnomAD v4 |
7 | g.117559438_117559441delinsCTAA | CA1737383982 | CFTR,CFTR-AS1 | c.1393-26_1393-23delinsCTAA (n.1393-26_1393-23delinsCTAA) c.*1107-26_*1107-23delinsCTAA (n.*1107-26_*1107-23delinsCTAA) c.1210-26_1210-23delinsCTAA (n.1210-26_1210-23delinsCTAA) c.1388-26_1388-23delinsCTAA (n.1388-26_1388-23delinsCTAA) c.*1217-26_*1217-23delinsCTAA (n.*1217-26_*1217-23delinsCTAA) c.967-26_967-23delinsCTAA (n.967-26_967-23delinsCTAA) c.1303-26_1303-23delinsCTAA (n.1303-26_1303-23delinsCTAA) c.1483-26_1483-23delinsCTAA (n.1483-26_1483-23delinsCTAA) c.1150-26_1150-23delinsCTAA (n.1150-26_1150-23delinsCTAA) n.221+1292_221+1295delinsTTAG | |
7 | g.117559438_117559448del | CA2580076279 | CFTR,CFTR-AS1 | c.1393-26_1393-16del (n.1393-26_1393-16del) c.*1107-26_*1107-16del (n.*1107-26_*1107-16del) c.1210-26_1210-16del (n.1210-26_1210-16del) c.1388-26_1388-16del (n.1388-26_1388-16del) c.*1217-26_*1217-16del (n.*1217-26_*1217-16del) c.967-26_967-16del (n.967-26_967-16del) c.1303-26_1303-16del (n.1303-26_1303-16del) c.1483-26_1483-16del (n.1483-26_1483-16del) c.1150-26_1150-16del (n.1150-26_1150-16del) n.221+1285_221+1295del | ClinVar |
7 | g.117559439T>C | CA2684618596 | CFTR,CFTR-AS1 | c.1393-25T>C (n.1393-25T>C) c.*1107-25T>C (n.*1107-25T>C) c.1210-25T>C (n.1210-25T>C) c.1388-25T>C (n.1388-25T>C) c.*1217-25T>C (n.*1217-25T>C) c.967-25T>C (n.967-25T>C) c.1303-25T>C (n.1303-25T>C) c.1483-25T>C (n.1483-25T>C) c.1150-25T>C (n.1150-25T>C) n.221+1294A>G | gnomAD v4 |
7 | g.117559443_117559445del | CA918111811 | CFTR,CFTR-AS1 | c.1393-21_1393-19del (n.1393-21_1393-19del) c.*1107-21_*1107-19del (n.*1107-21_*1107-19del) c.1210-21_1210-19del (n.1210-21_1210-19del) c.1388-21_1388-19del (n.1388-21_1388-19del) c.*1217-21_*1217-19del (n.*1217-21_*1217-19del) c.967-21_967-19del (n.967-21_967-19del) c.1303-21_1303-19del (n.1303-21_1303-19del) c.1483-21_1483-19del (n.1483-21_1483-19del) c.1150-21_1150-19del (n.1150-21_1150-19del) n.221+1292_221+1294del | dbSNP gnomAD v4 |
7 | g.117559440A= | CA1737383985 | CFTR,CFTR-AS1 | c.1393-24A= (n.1393-24A=) c.*1107-24A= (n.*1107-24A=) c.1210-24A= (n.1210-24A=) c.1388-24A= (n.1388-24A=) c.*1217-24A= (n.*1217-24A=) c.967-24A= (n.967-24A=) c.1303-24A= (n.1303-24A=) c.1483-24A= (n.1483-24A=) c.1150-24A= (n.1150-24A=) n.221+1293T= | |
7 | g.117559440A>G | CA1737383986 | CFTR,CFTR-AS1 | c.1393-24A>G (n.1393-24A>G) c.*1107-24A>G (n.*1107-24A>G) c.1210-24A>G (n.1210-24A>G) c.1388-24A>G (n.1388-24A>G) c.*1217-24A>G (n.*1217-24A>G) c.967-24A>G (n.967-24A>G) c.1303-24A>G (n.1303-24A>G) c.1483-24A>G (n.1483-24A>G) c.1150-24A>G (n.1150-24A>G) n.221+1293T>C | dbSNP gnomAD v4 |
7 | g.117559441del | CA2684618597 | CFTR,CFTR-AS1 | c.1393-23del (n.1393-23del) c.*1107-23del (n.*1107-23del) c.1210-23del (n.1210-23del) c.1388-23del (n.1388-23del) c.*1217-23del (n.*1217-23del) c.967-23del (n.967-23del) c.1303-23del (n.1303-23del) c.1483-23del (n.1483-23del) c.1150-23del (n.1150-23del) n.221+1293del | gnomAD v4 |
7 | g.117559441A= | CA1737383989 | CFTR,CFTR-AS1 | c.1393-23A= (n.1393-23A=) c.*1107-23A= (n.*1107-23A=) c.1210-23A= (n.1210-23A=) c.1388-23A= (n.1388-23A=) c.*1217-23A= (n.*1217-23A=) c.967-23A= (n.967-23A=) c.1303-23A= (n.1303-23A=) c.1483-23A= (n.1483-23A=) c.1150-23A= (n.1150-23A=) n.221+1292T= | |
7 | g.117559441A>T | CA1737383990 | CFTR,CFTR-AS1 | c.1393-23A>T (n.1393-23A>T) c.*1107-23A>T (n.*1107-23A>T) c.1210-23A>T (n.1210-23A>T) c.1388-23A>T (n.1388-23A>T) c.*1217-23A>T (n.*1217-23A>T) c.967-23A>T (n.967-23A>T) c.1303-23A>T (n.1303-23A>T) c.1483-23A>T (n.1483-23A>T) c.1150-23A>T (n.1150-23A>T) n.221+1292T>A | dbSNP |
7 | g.117559444A>G | CA2578999913 | CFTR,CFTR-AS1 | c.1393-20A>G (n.1393-20A>G) c.*1107-20A>G (n.*1107-20A>G) c.1210-20A>G (n.1210-20A>G) c.1388-20A>G (n.1388-20A>G) c.*1217-20A>G (n.*1217-20A>G) c.967-20A>G (n.967-20A>G) c.1303-20A>G (n.1303-20A>G) c.1483-20A>G (n.1483-20A>G) c.1150-20A>G (n.1150-20A>G) n.221+1289T>C | ClinVar gnomAD v4 |
7 | g.117559445T>A | CA2684618598 | CFTR,CFTR-AS1 | c.1393-19T>A (n.1393-19T>A) c.*1107-19T>A (n.*1107-19T>A) c.1210-19T>A (n.1210-19T>A) c.1388-19T>A (n.1388-19T>A) c.*1217-19T>A (n.*1217-19T>A) c.967-19T>A (n.967-19T>A) c.1303-19T>A (n.1303-19T>A) c.1483-19T>A (n.1483-19T>A) c.1150-19T>A (n.1150-19T>A) n.221+1288A>T | gnomAD v4 |
7 | g.117559446G>A | CA326467 | CFTR,CFTR-AS1 | c.1393-18G>A (n.1393-18G>A) c.*1107-18G>A (n.*1107-18G>A) c.1210-18G>A (n.1210-18G>A) c.1388-18G>A (n.1388-18G>A) c.*1217-18G>A (n.*1217-18G>A) c.967-18G>A (n.967-18G>A) c.1303-18G>A (n.1303-18G>A) c.1483-18G>A (n.1483-18G>A) c.1150-18G>A (n.1150-18G>A) n.221+1287C>T | ClinVar dbSNP |
7 | g.117559446G= | CA1737383995 | CFTR,CFTR-AS1 | c.1393-18G= (n.1393-18G=) c.*1107-18G= (n.*1107-18G=) c.1210-18G= (n.1210-18G=) c.1388-18G= (n.1388-18G=) c.*1217-18G= (n.*1217-18G=) c.967-18G= (n.967-18G=) c.1303-18G= (n.1303-18G=) c.1483-18G= (n.1483-18G=) c.1150-18G= (n.1150-18G=) n.221+1287C= | |
7 | g.117559447A= | CA1737384002 | CFTR,CFTR-AS1 | c.1393-17A= (n.1393-17A=) c.*1107-17A= (n.*1107-17A=) c.1210-17A= (n.1210-17A=) c.1388-17A= (n.1388-17A=) c.*1217-17A= (n.*1217-17A=) c.967-17A= (n.967-17A=) c.1303-17A= (n.1303-17A=) c.1483-17A= (n.1483-17A=) c.1150-17A= (n.1150-17A=) n.221+1286T= | |
7 | g.117559447A>G | CA832122173 | CFTR,CFTR-AS1 | c.1393-17A>G (n.1393-17A>G) c.*1107-17A>G (n.*1107-17A>G) c.1210-17A>G (n.1210-17A>G) c.1388-17A>G (n.1388-17A>G) c.*1217-17A>G (n.*1217-17A>G) c.967-17A>G (n.967-17A>G) c.1303-17A>G (n.1303-17A>G) c.1483-17A>G (n.1483-17A>G) c.1150-17A>G (n.1150-17A>G) n.221+1286T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559448T>A | CA651920898 | CFTR,CFTR-AS1 | c.1393-16T>A (n.1393-16T>A) c.*1107-16T>A (n.*1107-16T>A) c.1210-16T>A (n.1210-16T>A) c.1388-16T>A (n.1388-16T>A) c.*1217-16T>A (n.*1217-16T>A) c.967-16T>A (n.967-16T>A) c.1303-16T>A (n.1303-16T>A) c.1483-16T>A (n.1483-16T>A) c.1150-16T>A (n.1150-16T>A) n.221+1285A>T | COSMIC |
7 | g.117559448T>C | CA2684618599 | CFTR,CFTR-AS1 | c.1393-16T>C (n.1393-16T>C) c.*1107-16T>C (n.*1107-16T>C) c.1210-16T>C (n.1210-16T>C) c.1388-16T>C (n.1388-16T>C) c.*1217-16T>C (n.*1217-16T>C) c.967-16T>C (n.967-16T>C) c.1303-16T>C (n.1303-16T>C) c.1483-16T>C (n.1483-16T>C) c.1150-16T>C (n.1150-16T>C) n.221+1285A>G | gnomAD v4 |
7 | g.117559448T>G | CA2684618600 | CFTR,CFTR-AS1 | c.1393-16T>G (n.1393-16T>G) c.*1107-16T>G (n.*1107-16T>G) c.1210-16T>G (n.1210-16T>G) c.1388-16T>G (n.1388-16T>G) c.*1217-16T>G (n.*1217-16T>G) c.967-16T>G (n.967-16T>G) c.1303-16T>G (n.1303-16T>G) c.1483-16T>G (n.1483-16T>G) c.1150-16T>G (n.1150-16T>G) n.221+1285A>C | gnomAD v4 |
7 | g.117559450G>T | CA2715455949 | CFTR,CFTR-AS1 | c.1393-14G>T (n.1393-14G>T) c.*1107-14G>T (n.*1107-14G>T) c.1210-14G>T (n.1210-14G>T) c.1388-14G>T (n.1388-14G>T) c.*1217-14G>T (n.*1217-14G>T) c.967-14G>T (n.967-14G>T) c.1303-14G>T (n.1303-14G>T) c.1483-14G>T (n.1483-14G>T) c.1150-14G>T (n.1150-14G>T) n.221+1283C>A | dbSNP |
7 | g.117559451G>A | CA4450999 | CFTR,CFTR-AS1 | c.1393-13G>A (n.1393-13G>A) c.*1107-13G>A (n.*1107-13G>A) c.1210-13G>A (n.1210-13G>A) c.1388-13G>A (n.1388-13G>A) c.*1217-13G>A (n.*1217-13G>A) c.967-13G>A (n.967-13G>A) c.1303-13G>A (n.1303-13G>A) c.1483-13G>A (n.1483-13G>A) c.1150-13G>A (n.1150-13G>A) n.221+1282C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559451G= | CA1737384009 | CFTR,CFTR-AS1 | c.1393-13G= (n.1393-13G=) c.*1107-13G= (n.*1107-13G=) c.1210-13G= (n.1210-13G=) c.1388-13G= (n.1388-13G=) c.*1217-13G= (n.*1217-13G=) c.967-13G= (n.967-13G=) c.1303-13G= (n.1303-13G=) c.1483-13G= (n.1483-13G=) c.1150-13G= (n.1150-13G=) n.221+1282C= | |
7 | g.117559452T>C | CA577217854 | CFTR,CFTR-AS1 | c.1393-12T>C (n.1393-12T>C) c.*1107-12T>C (n.*1107-12T>C) c.1210-12T>C (n.1210-12T>C) c.1388-12T>C (n.1388-12T>C) c.*1217-12T>C (n.*1217-12T>C) c.967-12T>C (n.967-12T>C) c.1303-12T>C (n.1303-12T>C) c.1483-12T>C (n.1483-12T>C) c.1150-12T>C (n.1150-12T>C) n.221+1281A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559452T>G | CA1737384018 | CFTR,CFTR-AS1 | c.1393-12T>G (n.1393-12T>G) c.*1107-12T>G (n.*1107-12T>G) c.1210-12T>G (n.1210-12T>G) c.1388-12T>G (n.1388-12T>G) c.*1217-12T>G (n.*1217-12T>G) c.967-12T>G (n.967-12T>G) c.1303-12T>G (n.1303-12T>G) c.1483-12T>G (n.1483-12T>G) c.1150-12T>G (n.1150-12T>G) n.221+1281A>C | dbSNP |
7 | g.117559452T= | CA1737384013 | CFTR,CFTR-AS1 | c.1393-12T= (n.1393-12T=) c.*1107-12T= (n.*1107-12T=) c.1210-12T= (n.1210-12T=) c.1388-12T= (n.1388-12T=) c.*1217-12T= (n.*1217-12T=) c.967-12T= (n.967-12T=) c.1303-12T= (n.1303-12T=) c.1483-12T= (n.1483-12T=) c.1150-12T= (n.1150-12T=) n.221+1281A= | |
7 | g.117559455del | CA2684618601 | CFTR,CFTR-AS1 | c.1393-9del (n.1393-9del) c.*1107-9del (n.*1107-9del) c.1210-9del (n.1210-9del) c.1388-9del (n.1388-9del) c.*1217-9del (n.*1217-9del) c.967-9del (n.967-9del) c.1303-9del (n.1303-9del) c.1483-9del (n.1483-9del) c.1150-9del (n.1150-9del) n.221+1281del | gnomAD v4 |
7 | g.117559454T>C | CA1139660107 | CFTR,CFTR-AS1 | c.1393-10T>C (n.1393-10T>C) c.*1107-10T>C (n.*1107-10T>C) c.1210-10T>C (n.1210-10T>C) c.1388-10T>C (n.1388-10T>C) c.*1217-10T>C (n.*1217-10T>C) c.967-10T>C (n.967-10T>C) c.1303-10T>C (n.1303-10T>C) c.1483-10T>C (n.1483-10T>C) c.1150-10T>C (n.1150-10T>C) n.221+1279A>G | ClinVar dbSNP |
7 | g.117559454T= | CA1737384021 | CFTR,CFTR-AS1 | c.1393-10T= (n.1393-10T=) c.*1107-10T= (n.*1107-10T=) c.1210-10T= (n.1210-10T=) c.1388-10T= (n.1388-10T=) c.*1217-10T= (n.*1217-10T=) c.967-10T= (n.967-10T=) c.1303-10T= (n.1303-10T=) c.1483-10T= (n.1483-10T=) c.1150-10T= (n.1150-10T=) n.221+1279A= | |
7 | g.117559455T>A | CA2715455959 | CFTR,CFTR-AS1 | c.1393-9T>A (n.1393-9T>A) c.*1107-9T>A (n.*1107-9T>A) c.1210-9T>A (n.1210-9T>A) c.1388-9T>A (n.1388-9T>A) c.*1217-9T>A (n.*1217-9T>A) c.967-9T>A (n.967-9T>A) c.1303-9T>A (n.1303-9T>A) c.1483-9T>A (n.1483-9T>A) c.1150-9T>A (n.1150-9T>A) n.221+1278A>T | dbSNP |
7 | g.117559456A>G | CA2684618602 | CFTR,CFTR-AS1 | c.1393-8A>G (n.1393-8A>G) c.*1107-8A>G (n.*1107-8A>G) c.1210-8A>G (n.1210-8A>G) c.1388-8A>G (n.1388-8A>G) c.*1217-8A>G (n.*1217-8A>G) c.967-8A>G (n.967-8A>G) c.1303-8A>G (n.1303-8A>G) c.1483-8A>G (n.1483-8A>G) c.1150-8A>G (n.1150-8A>G) n.221+1277T>C | gnomAD v4 |
7 | g.117559456A>T | CA2573141541 | CFTR,CFTR-AS1 | c.1393-8A>T (n.1393-8A>T) c.*1107-8A>T (n.*1107-8A>T) c.1210-8A>T (n.1210-8A>T) c.1388-8A>T (n.1388-8A>T) c.*1217-8A>T (n.*1217-8A>T) c.967-8A>T (n.967-8A>T) c.1303-8A>T (n.1303-8A>T) c.1483-8A>T (n.1483-8A>T) c.1150-8A>T (n.1150-8A>T) n.221+1277T>A | ClinVar dbSNP |
7 | g.117559459dup | CA2578999915 | CFTR,CFTR-AS1 | c.1393-5dup (n.1393-5dup) c.*1107-5dup (n.*1107-5dup) c.1210-5dup (n.1210-5dup) c.1388-5dup (n.1388-5dup) c.*1217-5dup (n.*1217-5dup) c.967-5dup (n.967-5dup) c.1303-5dup (n.1303-5dup) c.1483-5dup (n.1483-5dup) c.1150-5dup (n.1150-5dup) n.221+1276dup | gnomAD v4 |
7 | g.117559458T>C | CA164967567 | CFTR,CFTR-AS1 | c.1393-6T>C (n.1393-6T>C) c.*1107-6T>C (n.*1107-6T>C) c.1210-6T>C (n.1210-6T>C) c.1388-6T>C (n.1388-6T>C) c.*1217-6T>C (n.*1217-6T>C) c.967-6T>C (n.967-6T>C) c.1303-6T>C (n.1303-6T>C) c.1483-6T>C (n.1483-6T>C) c.1150-6T>C (n.1150-6T>C) n.221+1275A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559458T= | CA1737384022 | CFTR,CFTR-AS1 | c.1393-6T= (n.1393-6T=) c.*1107-6T= (n.*1107-6T=) c.1210-6T= (n.1210-6T=) c.1388-6T= (n.1388-6T=) c.*1217-6T= (n.*1217-6T=) c.967-6T= (n.967-6T=) c.1303-6T= (n.1303-6T=) c.1483-6T= (n.1483-6T=) c.1150-6T= (n.1150-6T=) n.221+1275A= | |
7 | g.117559459T>A | CA645558674 | CFTR,CFTR-AS1 | c.1393-5T>A (n.1393-5T>A) c.*1107-5T>A (n.*1107-5T>A) c.1210-5T>A (n.1210-5T>A) c.1388-5T>A (n.1388-5T>A) c.*1217-5T>A (n.*1217-5T>A) c.967-5T>A (n.967-5T>A) c.1303-5T>A (n.1303-5T>A) c.1483-5T>A (n.1483-5T>A) c.1150-5T>A (n.1150-5T>A) n.221+1274A>T | COSMIC |
7 | g.117559459T>C | CA2684618603 | CFTR,CFTR-AS1 | c.1393-5T>C (n.1393-5T>C) c.*1107-5T>C (n.*1107-5T>C) c.1210-5T>C (n.1210-5T>C) c.1388-5T>C (n.1388-5T>C) c.*1217-5T>C (n.*1217-5T>C) c.967-5T>C (n.967-5T>C) c.1303-5T>C (n.1303-5T>C) c.1483-5T>C (n.1483-5T>C) c.1150-5T>C (n.1150-5T>C) n.221+1274A>G | gnomAD v4 |
7 | g.117559460C>A | CA2499218683 | CFTR,CFTR-AS1 | c.1393-4C>A (n.1393-4C>A) c.*1107-4C>A (n.*1107-4C>A) c.1210-4C>A (n.1210-4C>A) c.1388-4C>A (n.1388-4C>A) c.*1217-4C>A (n.*1217-4C>A) c.967-4C>A (n.967-4C>A) c.1303-4C>A (n.1303-4C>A) c.1483-4C>A (n.1483-4C>A) c.1150-4C>A (n.1150-4C>A) n.221+1273G>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559460C= | CA1737384024 | CFTR,CFTR-AS1 | c.1393-4C= (n.1393-4C=) c.*1107-4C= (n.*1107-4C=) c.1210-4C= (n.1210-4C=) c.1388-4C= (n.1388-4C=) c.*1217-4C= (n.*1217-4C=) c.967-4C= (n.967-4C=) c.1303-4C= (n.1303-4C=) c.1483-4C= (n.1483-4C=) c.1150-4C= (n.1150-4C=) n.221+1273G= | |
7 | g.117559460C>G | CA1737384025 | CFTR,CFTR-AS1 | c.1393-4C>G (n.1393-4C>G) c.*1107-4C>G (n.*1107-4C>G) c.1210-4C>G (n.1210-4C>G) c.1388-4C>G (n.1388-4C>G) c.*1217-4C>G (n.*1217-4C>G) c.967-4C>G (n.967-4C>G) c.1303-4C>G (n.1303-4C>G) c.1483-4C>G (n.1483-4C>G) c.1150-4C>G (n.1150-4C>G) n.221+1273G>C | ClinVar dbSNP |
7 | g.117559460C>T | CA2580076287 | CFTR,CFTR-AS1 | c.1393-4C>T (n.1393-4C>T) c.*1107-4C>T (n.*1107-4C>T) c.1210-4C>T (n.1210-4C>T) c.1388-4C>T (n.1388-4C>T) c.*1217-4C>T (n.*1217-4C>T) c.967-4C>T (n.967-4C>T) c.1303-4C>T (n.1303-4C>T) c.1483-4C>T (n.1483-4C>T) c.1150-4C>T (n.1150-4C>T) n.221+1273G>A | ClinVar gnomAD v4 |
7 | g.117559461C>A | CA4451000 | CFTR,CFTR-AS1 | c.1393-3C>A (n.1393-3C>A) c.*1107-3C>A (n.*1107-3C>A) c.1210-3C>A (n.1210-3C>A) c.1388-3C>A (n.1388-3C>A) c.*1217-3C>A (n.*1217-3C>A) c.967-3C>A (n.967-3C>A) c.1303-3C>A (n.1303-3C>A) c.1483-3C>A (n.1483-3C>A) c.1150-3C>A (n.1150-3C>A) n.221+1272G>T | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.117559461C= | CA1737384028 | CFTR,CFTR-AS1 | c.1393-3C= (n.1393-3C=) c.*1107-3C= (n.*1107-3C=) c.1210-3C= (n.1210-3C=) c.1388-3C= (n.1388-3C=) c.*1217-3C= (n.*1217-3C=) c.967-3C= (n.967-3C=) c.1303-3C= (n.1303-3C=) c.1483-3C= (n.1483-3C=) c.1150-3C= (n.1150-3C=) n.221+1272G= | |
7 | g.117559461_117559462del | CA2578999918 | CFTR,CFTR-AS1 | c.1393-3_1393-2del (n.1393-3_1393-2del) c.*1107-3_*1107-2del (n.*1107-3_*1107-2del) c.1210-3_1210-2del (n.1210-3_1210-2del) c.1388-3_1388-2del (n.1388-3_1388-2del) c.*1217-3_*1217-2del (n.*1217-3_*1217-2del) c.967-3_967-2del (n.967-3_967-2del) c.1303-3_1303-2del (n.1303-3_1303-2del) c.1483-3_1483-2del (n.1483-3_1483-2del) c.1150-3_1150-2del (n.1150-3_1150-2del) n.221+1271_221+1272del | |
7 | g.117559462A= | CA1737384033 | CFTR,CFTR-AS1 | c.1393-2A= (n.1393-2A=) c.*1107-2A= (n.*1107-2A=) c.1210-2A= (n.1210-2A=) c.1388-2A= (n.1388-2A=) c.*1217-2A= (n.*1217-2A=) c.967-2A= (n.967-2A=) c.1303-2A= (n.1303-2A=) c.1483-2A= (n.1483-2A=) c.1150-2A= (n.1150-2A=) n.221+1271T= | |
7 | g.117559462A>C | CA368984294 | CFTR,CFTR-AS1 | c.1393-2A>C (n.1393-2A>C) c.*1107-2A>C (n.*1107-2A>C) c.1210-2A>C (n.1210-2A>C) c.1388-2A>C (n.1388-2A>C) c.*1217-2A>C (n.*1217-2A>C) c.967-2A>C (n.967-2A>C) c.1303-2A>C (n.1303-2A>C) c.1483-2A>C (n.1483-2A>C) c.1150-2A>C (n.1150-2A>C) n.221+1271T>G | |
7 | g.117559462A>G | CA326468 | CFTR,CFTR-AS1 | c.1393-2A>G (n.1393-2A>G) c.*1107-2A>G (n.*1107-2A>G) c.1210-2A>G (n.1210-2A>G) c.1388-2A>G (n.1388-2A>G) c.*1217-2A>G (n.*1217-2A>G) c.967-2A>G (n.967-2A>G) c.1303-2A>G (n.1303-2A>G) c.1483-2A>G (n.1483-2A>G) c.1150-2A>G (n.1150-2A>G) n.221+1271T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559462A>T | CA368984293 | CFTR,CFTR-AS1 | c.1393-2A>T (n.1393-2A>T) c.*1107-2A>T (n.*1107-2A>T) c.1210-2A>T (n.1210-2A>T) c.1388-2A>T (n.1388-2A>T) c.*1217-2A>T (n.*1217-2A>T) c.967-2A>T (n.967-2A>T) c.1303-2A>T (n.1303-2A>T) c.1483-2A>T (n.1483-2A>T) c.1150-2A>T (n.1150-2A>T) n.221+1271T>A | |
7 | g.117559463del | CA2695208315 | CFTR,CFTR-AS1 | c.1393-1del (n.1393-1del) c.*1107-1del (n.*1107-1del) c.1210-1del (n.1210-1del) c.1388-1del (n.1388-1del) c.*1217-1del (n.*1217-1del) c.967-1del (n.967-1del) c.1303-1del (n.1303-1del) c.1483-1del (n.1483-1del) c.1150-1del (n.1150-1del) n.221+1270del | |
7 | g.117559463G>A | CA345305 | CFTR,CFTR-AS1 | c.1393-1G>A (n.1393-1G>A) c.*1107-1G>A (n.*1107-1G>A) c.1210-1G>A (n.1210-1G>A) c.1388-1G>A (n.1388-1G>A) c.*1217-1G>A (n.*1217-1G>A) c.967-1G>A (n.967-1G>A) c.1303-1G>A (n.1303-1G>A) c.1483-1G>A (n.1483-1G>A) c.1150-1G>A (n.1150-1G>A) n.221+1270C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559463G>C | CA368984295 | CFTR,CFTR-AS1 | c.1393-1G>C (n.1393-1G>C) c.*1107-1G>C (n.*1107-1G>C) c.1210-1G>C (n.1210-1G>C) c.1388-1G>C (n.1388-1G>C) c.*1217-1G>C (n.*1217-1G>C) c.967-1G>C (n.967-1G>C) c.1303-1G>C (n.1303-1G>C) c.1483-1G>C (n.1483-1G>C) c.1150-1G>C (n.1150-1G>C) n.221+1270C>G | dbSNP |
7 | g.117559463G= | CA1737384039 | CFTR,CFTR-AS1 | c.1393-1G= (n.1393-1G=) c.*1107-1G= (n.*1107-1G=) c.1210-1G= (n.1210-1G=) c.1388-1G= (n.1388-1G=) c.*1217-1G= (n.*1217-1G=) c.967-1G= (n.967-1G=) c.1303-1G= (n.1303-1G=) c.1483-1G= (n.1483-1G=) c.1150-1G= (n.1150-1G=) n.221+1270C= | |
7 | g.117559463G>T | CA368984296 | CFTR,CFTR-AS1 | c.1393-1G>T (n.1393-1G>T) c.*1107-1G>T (n.*1107-1G>T) c.1210-1G>T (n.1210-1G>T) c.1388-1G>T (n.1388-1G>T) c.*1217-1G>T (n.*1217-1G>T) c.967-1G>T (n.967-1G>T) c.1303-1G>T (n.1303-1G>T) c.1483-1G>T (n.1483-1G>T) c.1150-1G>T (n.1150-1G>T) n.221+1270C>A | |
7 | g.117559464A>C | CA368984297 | CFTR,CFTR-AS1 | c.1393A>C (p.Thr465Pro) c.*1107A>C (n.*1107A>C) c.1210A>C (p.Thr404Pro) c.1388A>C (p.Asp463Ala) c.*1217A>C (n.*1217A>C) c.967A>C (p.Thr323Pro) c.1303A>C (p.Thr435Pro) c.1483A>C (p.Thr495Pro) c.1150A>C (p.Thr384Pro) n.221+1269T>G | |
7 | g.117559464A>G | CA368984298 | CFTR,CFTR-AS1 | c.1393A>G (p.Thr465Ala) c.*1107A>G (n.*1107A>G) c.1210A>G (p.Thr404Ala) c.1388A>G (p.Asp463Gly) c.*1217A>G (n.*1217A>G) c.967A>G (p.Thr323Ala) c.1303A>G (p.Thr435Ala) c.1483A>G (p.Thr495Ala) c.1150A>G (p.Thr384Ala) n.221+1269T>C | |
7 | g.117559464A>T | CA368984299 | CFTR,CFTR-AS1 | c.1393A>T (p.Thr465Ser) c.*1107A>T (n.*1107A>T) c.1210A>T (p.Thr404Ser) c.1388A>T (p.Asp463Val) c.*1217A>T (n.*1217A>T) c.967A>T (p.Thr323Ser) c.1303A>T (p.Thr435Ser) c.1483A>T (p.Thr495Ser) c.1150A>T (p.Thr384Ser) n.221+1269T>A | |
7 | g.117559465C>A | CA4451001 | CFTR,CFTR-AS1 | c.1394C>A (p.Thr465Asn) c.*1108C>A (n.*1108C>A) c.1211C>A (p.Thr404Asn) c.1389C>A (p.Asp463Glu) c.*1218C>A (n.*1218C>A) c.968C>A (p.Thr323Asn) c.1304C>A (p.Thr435Asn) c.1484C>A (p.Thr495Asn) c.1151C>A (p.Thr384Asn) n.221+1268G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559465C= | CA1737384048 | CFTR,CFTR-AS1 | c.1394C= (p.Thr465=) c.*1108C= (n.*1108C=) c.1211C= (p.Thr404=) c.1389C= (p.Asp463=) c.*1218C= (n.*1218C=) c.968C= (p.Thr323=) c.1304C= (p.Thr435=) c.1484C= (p.Thr495=) c.1151C= (p.Thr384=) n.221+1268G= | |
7 | g.117559465C>G | CA368984300 | CFTR,CFTR-AS1 | c.1394C>G (p.Thr465Ser) c.*1108C>G (n.*1108C>G) c.1211C>G (p.Thr404Ser) c.1389C>G (p.Asp463Glu) c.*1218C>G (n.*1218C>G) c.968C>G (p.Thr323Ser) c.1304C>G (p.Thr435Ser) c.1484C>G (p.Thr495Ser) c.1151C>G (p.Thr384Ser) n.221+1268G>C | |
7 | g.117559465C>T | CA368984301 | CFTR,CFTR-AS1 | c.1394C>T (p.Thr465Ile) c.*1108C>T (n.*1108C>T) c.1211C>T (p.Thr404Ile) c.1389C>T (p.Asp463=) c.*1218C>T (n.*1218C>T) c.968C>T (p.Thr323Ile) c.1304C>T (p.Thr435Ile) c.1484C>T (p.Thr495Ile) c.1151C>T (p.Thr384Ile) n.221+1268G>A | ClinVar gnomAD v4 |
7 | g.117559466T>A | CA457228733 | CFTR,CFTR-AS1 | c.1395T>A (p.Thr465=) c.*1109T>A (n.*1109T>A) c.1212T>A (p.Thr404=) c.1390T>A (p.Phe464Ile) c.*1219T>A (n.*1219T>A) c.969T>A (p.Thr323=) c.1305T>A (p.Thr435=) c.1485T>A (p.Thr495=) c.1152T>A (p.Thr384=) n.221+1267A>T | ClinVar gnomAD v4 |
7 | g.117559466T>C | CA457228734 | CFTR,CFTR-AS1 | c.1395T>C (p.Thr465=) c.*1109T>C (n.*1109T>C) c.1212T>C (p.Thr404=) c.1390T>C (p.Phe464Leu) c.*1219T>C (n.*1219T>C) c.969T>C (p.Thr323=) c.1305T>C (p.Thr435=) c.1485T>C (p.Thr495=) c.1152T>C (p.Thr384=) n.221+1267A>G | ClinVar gnomAD v4 |
7 | g.117559466T>G | CA457228735 | CFTR,CFTR-AS1 | c.1395T>G (p.Thr465=) c.*1109T>G (n.*1109T>G) c.1212T>G (p.Thr404=) c.1390T>G (p.Phe464Val) c.*1219T>G (n.*1219T>G) c.969T>G (p.Thr323=) c.1305T>G (p.Thr435=) c.1485T>G (p.Thr495=) c.1152T>G (p.Thr384=) n.221+1267A>C | |
7 | g.117559467T>A | CA368984302 | CFTR,CFTR-AS1 | c.1396T>A (p.Ser466Thr) c.*1110T>A (n.*1110T>A) c.1213T>A (p.Ser405Thr) c.1391T>A (p.Phe464Tyr) c.*1220T>A (n.*1220T>A) c.970T>A (p.Ser324Thr) c.1306T>A (p.Ser436Thr) c.1486T>A (p.Ser496Thr) c.1153T>A (p.Ser385Thr) n.221+1266A>T | |
7 | g.117559467T>C | CA368984303 | CFTR,CFTR-AS1 | c.1396T>C (p.Ser466Pro) c.*1110T>C (n.*1110T>C) c.1213T>C (p.Ser405Pro) c.1391T>C (p.Phe464Ser) c.*1220T>C (n.*1220T>C) c.970T>C (p.Ser324Pro) c.1306T>C (p.Ser436Pro) c.1486T>C (p.Ser496Pro) c.1153T>C (p.Ser385Pro) n.221+1266A>G | |
7 | g.117559467T>G | CA368984304 | CFTR,CFTR-AS1 | c.1396T>G (p.Ser466Ala) c.*1110T>G (n.*1110T>G) c.1213T>G (p.Ser405Ala) c.1391T>G (p.Phe464Cys) c.*1220T>G (n.*1220T>G) c.970T>G (p.Ser324Ala) c.1306T>G (p.Ser436Ala) c.1486T>G (p.Ser496Ala) c.1153T>G (p.Ser385Ala) n.221+1266A>C | |
7 | g.117559468C>A | CA328085 | CFTR,CFTR-AS1 | c.1397C>A (p.Ser466Ter) c.*1111C>A (n.*1111C>A) c.1214C>A (p.Ser405Ter) c.1392C>A (p.Phe464Leu) c.*1221C>A (n.*1221C>A) c.971C>A (p.Ser324Ter) c.1307C>A (p.Ser436Ter) c.1487C>A (p.Ser496Ter) c.1154C>A (p.Ser385Ter) n.221+1265G>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559468C= | CA1737384062 | CFTR,CFTR-AS1 | c.1397C= (p.Ser466=) c.*1111C= (n.*1111C=) c.1214C= (p.Ser405=) c.1392C= (p.Phe464=) c.*1221C= (n.*1221C=) c.971C= (p.Ser324=) c.1307C= (p.Ser436=) c.1487C= (p.Ser496=) c.1154C= (p.Ser385=) n.221+1265G= | |
7 | g.117559468C>G | CA342833 | CFTR,CFTR-AS1 | c.1397C>G (p.Ser466Ter) c.*1111C>G (n.*1111C>G) c.1214C>G (p.Ser405Ter) c.1392C>G (p.Phe464Leu) c.*1221C>G (n.*1221C>G) c.971C>G (p.Ser324Ter) c.1307C>G (p.Ser436Ter) c.1487C>G (p.Ser496Ter) c.1154C>G (p.Ser385Ter) n.221+1265G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.[117559468C>G;117611650G>A] | CA913203341 | CFTR | c.[1397C>G;3209G>A] (p.Ser466Ter) c.[*1111C>G;*2923G>A] (n.[*1111C>G;*2923G>A]) c.[1214C>G;3026G>A] (p.Ser405Ter) c.[1397C>G;*1509G>A] (p.Ser466Ter) c.[*1221C>G;*3033G>A] (n.[*1221C>G;*3033G>A]) c.[971C>G;2783G>A] (p.Ser324Ter) c.[1214C>G;1991G>A] (p.Ser405Ter) c.[1307C>G;3119G>A] (p.Ser436Ter) c.[1487C>G;3299G>A] (p.Ser496Ter) c.[1154C>G;2966G>A] (p.Ser385Ter) | |
7 | g.117559468C>T | CA326469 | CFTR,CFTR-AS1 | c.1397C>T (p.Ser466Leu) c.*1111C>T (n.*1111C>T) c.1214C>T (p.Ser405Leu) c.1392C>T (p.Phe464=) c.*1221C>T (n.*1221C>T) c.971C>T (p.Ser324Leu) c.1307C>T (p.Ser436Leu) c.1487C>T (p.Ser496Leu) c.1154C>T (p.Ser385Leu) n.221+1265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117559469A>C | CA457228738 | CFTR,CFTR-AS1 | c.1398A>C (p.Ser466=) c.*1112A>C (n.*1112A>C) c.1215A>C (p.Ser405=) c.1393A>C (p.Thr465Pro) c.*1222A>C (n.*1222A>C) c.972A>C (p.Ser324=) c.1308A>C (p.Ser436=) c.1488A>C (p.Ser496=) c.1155A>C (p.Ser385=) n.221+1264T>G | |
7 | g.117559469A>G | CA457228737 | CFTR,CFTR-AS1 | c.1398A>G (p.Ser466=) c.*1112A>G (n.*1112A>G) c.1215A>G (p.Ser405=) c.1393A>G (p.Thr465Ala) c.*1222A>G (n.*1222A>G) c.972A>G (p.Ser324=) c.1308A>G (p.Ser436=) c.1488A>G (p.Ser496=) c.1155A>G (p.Ser385=) n.221+1264T>C | |
7 | g.117559469A>T | CA457228736 | CFTR,CFTR-AS1 | c.1398A>T (p.Ser466=) c.*1112A>T (n.*1112A>T) c.1215A>T (p.Ser405=) c.1393A>T (p.Thr465Ser) c.*1222A>T (n.*1222A>T) c.972A>T (p.Ser324=) c.1308A>T (p.Ser436=) c.1488A>T (p.Ser496=) c.1155A>T (p.Ser385=) n.221+1264T>A | |
7 | g.117559470C>A | CA368984306 | CFTR,CFTR-AS1 | c.1399C>A (p.Leu467Ile) c.*1113C>A (n.*1113C>A) c.1216C>A (p.Leu406Ile) c.1394C>A (p.Thr465Asn) c.*1223C>A (n.*1223C>A) c.973C>A (p.Leu325Ile) c.1309C>A (p.Leu437Ile) c.1489C>A (p.Leu497Ile) c.1156C>A (p.Leu386Ile) n.221+1263G>T | gnomAD v4 |
7 | g.117559470C= | CA1737384069 | CFTR,CFTR-AS1 | c.1399C= (p.Leu467=) c.*1113C= (n.*1113C=) c.1216C= (p.Leu406=) c.1394C= (p.Thr465=) c.*1223C= (n.*1223C=) c.973C= (p.Leu325=) c.1309C= (p.Leu437=) c.1489C= (p.Leu497=) c.1156C= (p.Leu386=) n.221+1263G= | |
7 | g.117559470C>G | CA368984305 | CFTR,CFTR-AS1 | c.1399C>G (p.Leu467Val) c.*1113C>G (n.*1113C>G) c.1216C>G (p.Leu406Val) c.1394C>G (p.Thr465Ser) c.*1223C>G (n.*1223C>G) c.973C>G (p.Leu325Val) c.1309C>G (p.Leu437Val) c.1489C>G (p.Leu497Val) c.1156C>G (p.Leu386Val) n.221+1263G>C | |
7 | g.117559470C>T | CA326471 | CFTR,CFTR-AS1 | c.1399C>T (p.Leu467Phe) c.*1113C>T (n.*1113C>T) c.1216C>T (p.Leu406Phe) c.1394C>T (p.Thr465Ile) c.*1223C>T (n.*1223C>T) c.973C>T (p.Leu325Phe) c.1309C>T (p.Leu437Phe) c.1489C>T (p.Leu497Phe) c.1156C>T (p.Leu386Phe) n.221+1263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559471T>A | CA368984307 | CFTR,CFTR-AS1 | c.1400T>A (p.Leu467His) c.*1114T>A (n.*1114T>A) c.1217T>A (p.Leu406His) c.1395T>A (p.Thr465=) c.*1224T>A (n.*1224T>A) c.974T>A (p.Leu325His) c.1310T>A (p.Leu437His) c.1490T>A (p.Leu497His) c.1157T>A (p.Leu386His) n.221+1262A>T | |
7 | g.117559471T>C | CA342834 | CFTR,CFTR-AS1 | c.1400T>C (p.Leu467Pro) c.*1114T>C (n.*1114T>C) c.1217T>C (p.Leu406Pro) c.1395T>C (p.Thr465=) c.*1224T>C (n.*1224T>C) c.974T>C (p.Leu325Pro) c.1310T>C (p.Leu437Pro) c.1490T>C (p.Leu497Pro) c.1157T>C (p.Leu386Pro) n.221+1262A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559471T>G | CA368984308 | CFTR,CFTR-AS1 | c.1400T>G (p.Leu467Arg) c.*1114T>G (n.*1114T>G) c.1217T>G (p.Leu406Arg) c.1395T>G (p.Thr465=) c.*1224T>G (n.*1224T>G) c.974T>G (p.Leu325Arg) c.1310T>G (p.Leu437Arg) c.1490T>G (p.Leu497Arg) c.1157T>G (p.Leu386Arg) n.221+1262A>C | |
7 | g.117559471T= | CA1737384078 | CFTR,CFTR-AS1 | c.1400T= (p.Leu467=) c.*1114T= (n.*1114T=) c.1217T= (p.Leu406=) c.1395T= (p.Thr465=) c.*1224T= (n.*1224T=) c.974T= (p.Leu325=) c.1310T= (p.Leu437=) c.1490T= (p.Leu497=) c.1157T= (p.Leu386=) n.221+1262A= | |
7 | g.117559472T>A | CA457228740 | CFTR,CFTR-AS1 | c.1401T>A (p.Leu467=) c.*1115T>A (n.*1115T>A) c.1218T>A (p.Leu406=) c.1396T>A (p.Ser466Thr) c.*1225T>A (n.*1225T>A) c.975T>A (p.Leu325=) c.1311T>A (p.Leu437=) c.1491T>A (p.Leu497=) c.1158T>A (p.Leu386=) n.221+1261A>T | |
7 | g.117559472T>C | CA457228741 | CFTR,CFTR-AS1 | c.1401T>C (p.Leu467=) c.*1115T>C (n.*1115T>C) c.1218T>C (p.Leu406=) c.1396T>C (p.Ser466Pro) c.*1225T>C (n.*1225T>C) c.975T>C (p.Leu325=) c.1311T>C (p.Leu437=) c.1491T>C (p.Leu497=) c.1158T>C (p.Leu386=) n.221+1261A>G | ClinVar |
7 | g.117559472T>G | CA457228742 | CFTR,CFTR-AS1 | c.1401T>G (p.Leu467=) c.*1115T>G (n.*1115T>G) c.1218T>G (p.Leu406=) c.1396T>G (p.Ser466Ala) c.*1225T>G (n.*1225T>G) c.975T>G (p.Leu325=) c.1311T>G (p.Leu437=) c.1491T>G (p.Leu497=) c.1158T>G (p.Leu386=) n.221+1261A>C | |
7 | g.117559473C>A | CA368984309 | CFTR,CFTR-AS1 | c.1402C>A (p.Leu468Ile) c.*1116C>A (n.*1116C>A) c.1219C>A (p.Leu407Ile) c.1397C>A (p.Ser466Tyr) c.*1226C>A (n.*1226C>A) c.976C>A (p.Leu326Ile) c.1312C>A (p.Leu438Ile) c.1492C>A (p.Leu498Ile) c.1159C>A (p.Leu387Ile) n.221+1260G>T | gnomAD v4 |
7 | g.117559473C>G | CA368984310 | CFTR,CFTR-AS1 | c.1402C>G (p.Leu468Val) c.*1116C>G (n.*1116C>G) c.1219C>G (p.Leu407Val) c.1397C>G (p.Ser466Cys) c.*1226C>G (n.*1226C>G) c.976C>G (p.Leu326Val) c.1312C>G (p.Leu438Val) c.1492C>G (p.Leu498Val) c.1159C>G (p.Leu387Val) n.221+1260G>C | |
7 | g.117559473C>T | CA457228743 | CFTR,CFTR-AS1 | c.1402C>T (p.Leu468=) c.*1116C>T (n.*1116C>T) c.1219C>T (p.Leu407=) c.1397C>T (p.Ser466Phe) c.*1226C>T (n.*1226C>T) c.976C>T (p.Leu326=) c.1312C>T (p.Leu438=) c.1492C>T (p.Leu498=) c.1159C>T (p.Leu387=) n.221+1260G>A | ClinVar |
7 | g.117559474T>A | CA368984311 | CFTR,CFTR-AS1 | c.1403T>A (p.Leu468Gln) c.*1117T>A (n.*1117T>A) c.1220T>A (p.Leu407Gln) c.1398T>A (p.Ser466=) c.*1227T>A (n.*1227T>A) c.977T>A (p.Leu326Gln) c.1313T>A (p.Leu438Gln) c.1493T>A (p.Leu498Gln) c.1160T>A (p.Leu387Gln) n.221+1259A>T | |
7 | g.117559474T>C | CA326473 | CFTR,CFTR-AS1 | c.1403T>C (p.Leu468Pro) c.*1117T>C (n.*1117T>C) c.1220T>C (p.Leu407Pro) c.1398T>C (p.Ser466=) c.*1227T>C (n.*1227T>C) c.977T>C (p.Leu326Pro) c.1313T>C (p.Leu438Pro) c.1493T>C (p.Leu498Pro) c.1160T>C (p.Leu387Pro) n.221+1259A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559474T>G | CA368984312 | CFTR,CFTR-AS1 | c.1403T>G (p.Leu468Arg) c.*1117T>G (n.*1117T>G) c.1220T>G (p.Leu407Arg) c.1398T>G (p.Ser466=) c.*1227T>G (n.*1227T>G) c.977T>G (p.Leu326Arg) c.1313T>G (p.Leu438Arg) c.1493T>G (p.Leu498Arg) c.1160T>G (p.Leu387Arg) n.221+1259A>C | |
7 | g.117559474T= | CA1737384086 | CFTR,CFTR-AS1 | c.1403T= (p.Leu468=) c.*1117T= (n.*1117T=) c.1220T= (p.Leu407=) c.1398T= (p.Ser466=) c.*1227T= (n.*1227T=) c.977T= (p.Leu326=) c.1313T= (p.Leu438=) c.1493T= (p.Leu498=) c.1160T= (p.Leu387=) n.221+1259A= | |
7 | g.117559475A>C | CA457228745 | CFTR,CFTR-AS1 | c.1404A>C (p.Leu468=) c.*1118A>C (n.*1118A>C) c.1221A>C (p.Leu407=) c.1399A>C (p.Asn467His) c.*1228A>C (n.*1228A>C) c.978A>C (p.Leu326=) c.1314A>C (p.Leu438=) c.1494A>C (p.Leu498=) c.1161A>C (p.Leu387=) n.221+1258T>G | |
7 | g.117559475A>G | CA457228747 | CFTR,CFTR-AS1 | c.1404A>G (p.Leu468=) c.*1118A>G (n.*1118A>G) c.1221A>G (p.Leu407=) c.1399A>G (p.Asn467Asp) c.*1228A>G (n.*1228A>G) c.978A>G (p.Leu326=) c.1314A>G (p.Leu438=) c.1494A>G (p.Leu498=) c.1161A>G (p.Leu387=) n.221+1258T>C | |
7 | g.117559475A>T | CA457228746 | CFTR,CFTR-AS1 | c.1404A>T (p.Leu468=) c.*1118A>T (n.*1118A>T) c.1221A>T (p.Leu407=) c.1399A>T (p.Asn467Tyr) c.*1228A>T (n.*1228A>T) c.978A>T (p.Leu326=) c.1314A>T (p.Leu438=) c.1494A>T (p.Leu498=) c.1161A>T (p.Leu387=) n.221+1258T>A | |
7 | g.117559476A= | CA1737384097 | CFTR,CFTR-AS1 | c.1405A= (p.Met469=) c.*1119A= (n.*1119A=) c.1222A= (p.Met408=) c.1400A= (p.Asn467=) c.*1229A= (n.*1229A=) c.979A= (p.Met327=) c.1315A= (p.Met439=) c.1495A= (p.Met499=) c.1162A= (p.Met388=) n.221+1257T= | |
7 | g.117559476A>C | CA368984313 | CFTR,CFTR-AS1 | c.1405A>C (p.Met469Leu) c.*1119A>C (n.*1119A>C) c.1222A>C (p.Met408Leu) c.1400A>C (p.Asn467Thr) c.*1229A>C (n.*1229A>C) c.979A>C (p.Met327Leu) c.1315A>C (p.Met439Leu) c.1495A>C (p.Met499Leu) c.1162A>C (p.Met388Leu) n.221+1257T>G | |
7 | g.117559476A>G | CA326475 | CFTR,CFTR-AS1 | c.1405A>G (p.Met469Val) c.*1119A>G (n.*1119A>G) c.1222A>G (p.Met408Val) c.1400A>G (p.Asn467Ser) c.*1229A>G (n.*1229A>G) c.979A>G (p.Met327Val) c.1315A>G (p.Met439Val) c.1495A>G (p.Met499Val) c.1162A>G (p.Met388Val) n.221+1257T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559476A>T | CA368984314 | CFTR,CFTR-AS1 | c.1405A>T (p.Met469Leu) c.*1119A>T (n.*1119A>T) c.1222A>T (p.Met408Leu) c.1400A>T (p.Asn467Ile) c.*1229A>T (n.*1229A>T) c.979A>T (p.Met327Leu) c.1315A>T (p.Met439Leu) c.1495A>T (p.Met499Leu) c.1162A>T (p.Met388Leu) n.221+1257T>A | ClinVar |
7 | g.117559477T>A | CA368984315 | CFTR,CFTR-AS1 | c.1406T>A (p.Met469Lys) c.*1120T>A (n.*1120T>A) c.1223T>A (p.Met408Lys) c.1401T>A (p.Asn467Lys) c.*1230T>A (n.*1230T>A) c.980T>A (p.Met327Lys) c.1316T>A (p.Met439Lys) c.1496T>A (p.Met499Lys) c.1163T>A (p.Met388Lys) n.221+1256A>T | |
7 | g.117559477T>C | CA368984316 | CFTR,CFTR-AS1 | c.1406T>C (p.Met469Thr) c.*1120T>C (n.*1120T>C) c.1223T>C (p.Met408Thr) c.1401T>C (p.Asn467=) c.*1230T>C (n.*1230T>C) c.980T>C (p.Met327Thr) c.1316T>C (p.Met439Thr) c.1496T>C (p.Met499Thr) c.1163T>C (p.Met388Thr) n.221+1256A>G | gnomAD v4 |
7 | g.117559477T>G | CA368984317 | CFTR,CFTR-AS1 | c.1406T>G (p.Met469Arg) c.*1120T>G (n.*1120T>G) c.1223T>G (p.Met408Arg) c.1401T>G (p.Asn467Lys) c.*1230T>G (n.*1230T>G) c.980T>G (p.Met327Arg) c.1316T>G (p.Met439Arg) c.1496T>G (p.Met499Arg) c.1163T>G (p.Met388Arg) n.221+1256A>C | |
7 | g.117559477_117559487delinsTGGTGATTATG | CA1737384101 | CFTR,CFTR-AS1 | c.1406_1416delinsTGGTGATTATG (p.Met469=) c.*1120_*1130delinsTGGTGATTATG (n.*1120_*1130delinsTGGTGATTATG) c.1223_1233delinsTGGTGATTATG (p.Met408=) c.1401_1411delinsTGGTGATTATG (p.Asn467=) c.*1230_*1240delinsTGGTGATTATG (n.*1230_*1240delinsTGGTGATTATG) c.980_990delinsTGGTGATTATG (p.Met327=) c.1316_1326delinsTGGTGATTATG (p.Met439=) c.1496_1506delinsTGGTGATTATG (p.Met499=) c.1163_1173delinsTGGTGATTATG (p.Met388=) n.221+1246_221+1256delinsCATAATCACCA | |
7 | g.117559478G>A | CA4451002 | CFTR,CFTR-AS1 | c.1407G>A (p.Met469Ile) c.*1121G>A (n.*1121G>A) c.1224G>A (p.Met408Ile) c.1402G>A (p.Gly468Ser) c.*1231G>A (n.*1231G>A) c.981G>A (p.Met327Ile) c.1317G>A (p.Met439Ile) c.1497G>A (p.Met499Ile) c.1164G>A (p.Met388Ile) n.221+1255C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559478G>C | CA368984318 | CFTR,CFTR-AS1 | c.1407G>C (p.Met469Ile) c.*1121G>C (n.*1121G>C) c.1224G>C (p.Met408Ile) c.1402G>C (p.Gly468Arg) c.*1231G>C (n.*1231G>C) c.981G>C (p.Met327Ile) c.1317G>C (p.Met439Ile) c.1497G>C (p.Met499Ile) c.1164G>C (p.Met388Ile) n.221+1255C>G | |
7 | g.117559478G= | CA1737384114 | CFTR,CFTR-AS1 | c.1407G= (p.Met469=) c.*1121G= (n.*1121G=) c.1224G= (p.Met408=) c.1402G= (p.Gly468=) c.*1231G= (n.*1231G=) c.981G= (p.Met327=) c.1317G= (p.Met439=) c.1497G= (p.Met499=) c.1164G= (p.Met388=) n.221+1255C= | |
7 | g.117559478G>T | CA326477 | CFTR,CFTR-AS1 | c.1407G>T (p.Met469Ile) c.*1121G>T (n.*1121G>T) c.1224G>T (p.Met408Ile) c.1402G>T (p.Gly468Cys) c.*1231G>T (n.*1231G>T) c.981G>T (p.Met327Ile) c.1317G>T (p.Met439Ile) c.1497G>T (p.Met499Ile) c.1164G>T (p.Met388Ile) n.221+1255C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559479del | CA2695208316 | CFTR,CFTR-AS1 | c.1408del (p.Val470Ter) c.*1122del (n.*1122del) c.1225del (p.Val409Ter) c.1403del (p.Gly468ValfsTer?) c.*1232del (n.*1232del) c.982del (p.Val328Ter) c.1318del (p.Val440Ter) c.1498del (p.Val500Ter) c.1165del (p.Val389Ter) n.221+1255del | |
7 | g.117559480_117559489del | CA326479 | CFTR,CFTR-AS1 | c.1409_1418del (p.Val470GlufsTer?) c.*1123_*1132del (n.*1123_*1132del) c.1226_1235del (p.Val409GlufsTer?) c.1404_1413del (p.Asp469GlufsTer?) c.*1233_*1242del (n.*1233_*1242del) c.983_992del (p.Val328GlufsTer?) c.1319_1328del (p.Val440GlufsTer?) c.1499_1508del (p.Val500GlufsTer?) c.1166_1175del (p.Val389GlufsTer?) n.221+1246_221+1255del | ClinVar dbSNP gnomAD v4 |
7 | g.117559479G>A | CA132747 | CFTR,CFTR-AS1 | c.1408G>A (p.Val470Met) c.*1122G>A (n.*1122G>A) c.1225G>A (p.Val409Met) c.1403G>A (p.Gly468Asp) c.*1232G>A (n.*1232G>A) c.982G>A (p.Val328Met) c.1318G>A (p.Val440Met) c.1498G>A (p.Val500Met) c.1165G>A (p.Val389Met) n.221+1254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559479G>C | CA368984319 | CFTR,CFTR-AS1 | c.1408G>C (p.Val470Leu) c.*1122G>C (n.*1122G>C) c.1225G>C (p.Val409Leu) c.1403G>C (p.Gly468Ala) c.*1232G>C (n.*1232G>C) c.982G>C (p.Val328Leu) c.1318G>C (p.Val440Leu) c.1498G>C (p.Val500Leu) c.1165G>C (p.Val389Leu) n.221+1254C>G | |
7 | g.117559479G= | CA215118 | CFTR,CFTR-AS1 | c.1408G= (p.Val470=) c.*1122G= (n.*1122G=) c.1225G= (p.Val409=) c.1403G= (p.Gly468=) c.*1232G= (n.*1232G=) c.982G= (p.Val328=) c.1318G= (p.Val440=) c.1498G= (p.Val500=) c.1165G= (p.Val389=) n.221+1254C= | |
7 | g.117559479G>T | CA368984320 | CFTR,CFTR-AS1 | c.1408G>T (p.Val470Leu) c.*1122G>T (n.*1122G>T) c.1225G>T (p.Val409Leu) c.1403G>T (p.Gly468Val) c.*1232G>T (n.*1232G>T) c.982G>T (p.Val328Leu) c.1318G>T (p.Val440Leu) c.1498G>T (p.Val500Leu) c.1165G>T (p.Val389Leu) n.221+1254C>A | |
7 | g.117559480T>A | CA368984321 | CFTR,CFTR-AS1 | c.1409T>A (p.Val470Glu) c.*1123T>A (n.*1123T>A) c.1226T>A (p.Val409Glu) c.1404T>A (p.Gly468=) c.*1233T>A (n.*1233T>A) c.983T>A (p.Val328Glu) c.1319T>A (p.Val440Glu) c.1499T>A (p.Val500Glu) c.1166T>A (p.Val389Glu) n.221+1253A>T | ClinVar dbSNP |
7 | g.117559480T>C | CA368984322 | CFTR,CFTR-AS1 | c.1409T>C (p.Val470Ala) c.*1123T>C (n.*1123T>C) c.1226T>C (p.Val409Ala) c.1404T>C (p.Gly468=) c.*1233T>C (n.*1233T>C) c.983T>C (p.Val328Ala) c.1319T>C (p.Val440Ala) c.1499T>C (p.Val500Ala) c.1166T>C (p.Val389Ala) n.221+1253A>G | |
7 | g.117559480T>G | CA368984323 | CFTR,CFTR-AS1 | c.1409T>G (p.Val470Gly) c.*1123T>G (n.*1123T>G) c.1226T>G (p.Val409Gly) c.1404T>G (p.Gly468=) c.*1233T>G (n.*1233T>G) c.983T>G (p.Val328Gly) c.1319T>G (p.Val440Gly) c.1499T>G (p.Val500Gly) c.1166T>G (p.Val389Gly) n.221+1253A>C | |
7 | g.117559480T= | CA1737384123 | CFTR,CFTR-AS1 | c.1409T= (p.Val470=) c.*1123T= (n.*1123T=) c.1226T= (p.Val409=) c.1404T= (p.Gly468=) c.*1233T= (n.*1233T=) c.983T= (p.Val328=) c.1319T= (p.Val440=) c.1499T= (p.Val500=) c.1166T= (p.Val389=) n.221+1253A= | |
7 | g.117559481del | CA2695208317 | CFTR,CFTR-AS1 | c.1410del (p.Ile471LeufsTer?) c.*1124del (n.*1124del) c.1227del (p.Ile410LeufsTer?) c.1405del (p.Asp469IlefsTer?) c.*1234del (n.*1234del) c.984del (p.Ile329LeufsTer?) c.1320del (p.Ile441LeufsTer?) c.1500del (p.Ile501LeufsTer?) c.1167del (p.Ile390LeufsTer?) n.221+1252del | |
7 | g.117559481G>A | CA457228748 | CFTR,CFTR-AS1 | c.1410G>A (p.Val470=) c.*1124G>A (n.*1124G>A) c.1227G>A (p.Val409=) c.1405G>A (p.Asp469Asn) c.*1234G>A (n.*1234G>A) c.984G>A (p.Val328=) c.1320G>A (p.Val440=) c.1500G>A (p.Val500=) c.1167G>A (p.Val389=) n.221+1252C>T | COSMIC |
7 | g.117559481G>C | CA457228749 | CFTR,CFTR-AS1 | c.1410G>C (p.Val470=) c.*1124G>C (n.*1124G>C) c.1227G>C (p.Val409=) c.1405G>C (p.Asp469His) c.*1234G>C (n.*1234G>C) c.984G>C (p.Val328=) c.1320G>C (p.Val440=) c.1500G>C (p.Val500=) c.1167G>C (p.Val389=) n.221+1252C>G | |
7 | g.117559481G>T | CA457228750 | CFTR,CFTR-AS1 | c.1410G>T (p.Val470=) c.*1124G>T (n.*1124G>T) c.1227G>T (p.Val409=) c.1405G>T (p.Asp469Tyr) c.*1234G>T (n.*1234G>T) c.984G>T (p.Val328=) c.1320G>T (p.Val440=) c.1500G>T (p.Val500=) c.1167G>T (p.Val389=) n.221+1252C>A | |
7 | g.117559482A= | CA1737384127 | CFTR,CFTR-AS1 | c.1411A= (p.Ile471=) c.*1125A= (n.*1125A=) c.1228A= (p.Ile410=) c.1406A= (p.Asp469=) c.*1235A= (n.*1235A=) c.985A= (p.Ile329=) c.1321A= (p.Ile441=) c.1501A= (p.Ile501=) c.1168A= (p.Ile390=) n.221+1251T= | |
7 | g.117559482A>C | CA368984324 | CFTR,CFTR-AS1 | c.1411A>C (p.Ile471Leu) c.*1125A>C (n.*1125A>C) c.1228A>C (p.Ile410Leu) c.1406A>C (p.Asp469Ala) c.*1235A>C (n.*1235A>C) c.985A>C (p.Ile329Leu) c.1321A>C (p.Ile441Leu) c.1501A>C (p.Ile501Leu) c.1168A>C (p.Ile390Leu) n.221+1251T>G | |
7 | g.117559482A>G | CA368984325 | CFTR,CFTR-AS1 | c.1411A>G (p.Ile471Val) c.*1125A>G (n.*1125A>G) c.1228A>G (p.Ile410Val) c.1406A>G (p.Asp469Gly) c.*1235A>G (n.*1235A>G) c.985A>G (p.Ile329Val) c.1321A>G (p.Ile441Val) c.1501A>G (p.Ile501Val) c.1168A>G (p.Ile390Val) n.221+1251T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559482A>T | CA368984326 | CFTR,CFTR-AS1 | c.1411A>T (p.Ile471Phe) c.*1125A>T (n.*1125A>T) c.1228A>T (p.Ile410Phe) c.1406A>T (p.Asp469Val) c.*1235A>T (n.*1235A>T) c.985A>T (p.Ile329Phe) c.1321A>T (p.Ile441Phe) c.1501A>T (p.Ile501Phe) c.1168A>T (p.Ile390Phe) n.221+1251T>A | ClinVar gnomAD v4 |
7 | g.117559483T>A | CA368984329 | CFTR,CFTR-AS1 | c.1412T>A (p.Ile471Asn) c.*1126T>A (n.*1126T>A) c.1229T>A (p.Ile410Asn) c.1407T>A (p.Asp469Glu) c.*1236T>A (n.*1236T>A) c.986T>A (p.Ile329Asn) c.1322T>A (p.Ile441Asn) c.1502T>A (p.Ile501Asn) c.1169T>A (p.Ile390Asn) n.221+1250A>T | |
7 | g.117559483T>C | CA368984328 | CFTR,CFTR-AS1 | c.1412T>C (p.Ile471Thr) c.*1126T>C (n.*1126T>C) c.1229T>C (p.Ile410Thr) c.1407T>C (p.Asp469=) c.*1236T>C (n.*1236T>C) c.986T>C (p.Ile329Thr) c.1322T>C (p.Ile441Thr) c.1502T>C (p.Ile501Thr) c.1169T>C (p.Ile390Thr) n.221+1250A>G | |
7 | g.117559483T>G | CA368984327 | CFTR,CFTR-AS1 | c.1412T>G (p.Ile471Ser) c.*1126T>G (n.*1126T>G) c.1229T>G (p.Ile410Ser) c.1407T>G (p.Asp469Glu) c.*1236T>G (n.*1236T>G) c.986T>G (p.Ile329Ser) c.1322T>G (p.Ile441Ser) c.1502T>G (p.Ile501Ser) c.1169T>G (p.Ile390Ser) n.221+1250A>C | |
7 | g.117559484T>A | CA457228752 | CFTR,CFTR-AS1 | c.1413T>A (p.Ile471=) c.*1127T>A (n.*1127T>A) c.1230T>A (p.Ile410=) c.1408T>A (p.Tyr470Asn) c.*1237T>A (n.*1237T>A) c.987T>A (p.Ile329=) c.1323T>A (p.Ile441=) c.1503T>A (p.Ile501=) c.1170T>A (p.Ile390=) n.221+1249A>T | |
7 | g.117559484T>C | CA457228751 | CFTR,CFTR-AS1 | c.1413T>C (p.Ile471=) c.*1127T>C (n.*1127T>C) c.1230T>C (p.Ile410=) c.1408T>C (p.Tyr470His) c.*1237T>C (n.*1237T>C) c.987T>C (p.Ile329=) c.1323T>C (p.Ile441=) c.1503T>C (p.Ile501=) c.1170T>C (p.Ile390=) n.221+1249A>G | |
7 | g.117559484T>G | CA368984330 | CFTR,CFTR-AS1 | c.1413T>G (p.Ile471Met) c.*1127T>G (n.*1127T>G) c.1230T>G (p.Ile410Met) c.1408T>G (p.Tyr470Asp) c.*1237T>G (n.*1237T>G) c.987T>G (p.Ile329Met) c.1323T>G (p.Ile441Met) c.1503T>G (p.Ile501Met) c.1170T>G (p.Ile390Met) n.221+1249A>C | COSMIC |
7 | g.117559485A= | CA1737384135 | CFTR,CFTR-AS1 | c.1414A= (p.Met472=) c.*1128A= (n.*1128A=) c.1231A= (p.Met411=) c.1409A= (p.Tyr470=) c.*1238A= (n.*1238A=) c.988A= (p.Met330=) c.1324A= (p.Met442=) c.1504A= (p.Met502=) c.1171A= (p.Met391=) n.221+1248T= | |
7 | g.117559485A>C | CA368984331 | CFTR,CFTR-AS1 | c.1414A>C (p.Met472Leu) c.*1128A>C (n.*1128A>C) c.1231A>C (p.Met411Leu) c.1409A>C (p.Tyr470Ser) c.*1238A>C (n.*1238A>C) c.988A>C (p.Met330Leu) c.1324A>C (p.Met442Leu) c.1504A>C (p.Met502Leu) c.1171A>C (p.Met391Leu) n.221+1248T>G | |
7 | g.117559485A>G | CA368984332 | CFTR,CFTR-AS1 | c.1414A>G (p.Met472Val) c.*1128A>G (n.*1128A>G) c.1231A>G (p.Met411Val) c.1409A>G (p.Tyr470Cys) c.*1238A>G (n.*1238A>G) c.988A>G (p.Met330Val) c.1324A>G (p.Met442Val) c.1504A>G (p.Met502Val) c.1171A>G (p.Met391Val) n.221+1248T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559485A>T | CA368984333 | CFTR,CFTR-AS1 | c.1414A>T (p.Met472Leu) c.*1128A>T (n.*1128A>T) c.1231A>T (p.Met411Leu) c.1409A>T (p.Tyr470Phe) c.*1238A>T (n.*1238A>T) c.988A>T (p.Met330Leu) c.1324A>T (p.Met442Leu) c.1504A>T (p.Met502Leu) c.1171A>T (p.Met391Leu) n.221+1248T>A | |
7 | g.117559485dup | CA913111907 | CFTR,CFTR-AS1 | c.1414dup (p.Met472AsnfsTer10) c.*1128dup (n.*1128dup) c.1231dup (p.Met411AsnfsTer10) c.1409dup (p.Tyr470Ter) c.*1238dup (n.*1238dup) c.988dup (p.Met330AsnfsTer10) c.1324dup (p.Met442AsnfsTer10) c.1504dup (p.Met502AsnfsTer10) c.1171dup (p.Met391AsnfsTer10) n.221+1248dup | |
7 | g.117559486T>A | CA368984334 | CFTR,CFTR-AS1 | c.1415T>A (p.Met472Lys) c.*1129T>A (n.*1129T>A) c.1232T>A (p.Met411Lys) c.1410T>A (p.Tyr470Ter) c.*1239T>A (n.*1239T>A) c.989T>A (p.Met330Lys) c.1325T>A (p.Met442Lys) c.1505T>A (p.Met502Lys) c.1172T>A (p.Met391Lys) n.221+1247A>T | |
7 | g.117559486T>C | CA368984335 | CFTR,CFTR-AS1 | c.1415T>C (p.Met472Thr) c.*1129T>C (n.*1129T>C) c.1232T>C (p.Met411Thr) c.1410T>C (p.Tyr470=) c.*1239T>C (n.*1239T>C) c.989T>C (p.Met330Thr) c.1325T>C (p.Met442Thr) c.1505T>C (p.Met502Thr) c.1172T>C (p.Met391Thr) n.221+1247A>G | |
7 | g.117559486T>G | CA368984336 | CFTR,CFTR-AS1 | c.1415T>G (p.Met472Arg) c.*1129T>G (n.*1129T>G) c.1232T>G (p.Met411Arg) c.1410T>G (p.Tyr470Ter) c.*1239T>G (n.*1239T>G) c.989T>G (p.Met330Arg) c.1325T>G (p.Met442Arg) c.1505T>G (p.Met502Arg) c.1172T>G (p.Met391Arg) n.221+1247A>C | |
7 | g.117559486dup | CA658821280 | CFTR,CFTR-AS1 | c.1415dup (p.Met472IlefsTer10) c.*1129dup (n.*1129dup) c.1232dup (p.Met411IlefsTer10) c.1410dup (p.Gly471TrpfsTer?) c.*1239dup (n.*1239dup) c.989dup (p.Met330IlefsTer10) c.1325dup (p.Met442IlefsTer10) c.1505dup (p.Met502IlefsTer10) c.1172dup (p.Met391IlefsTer10) n.221+1247dup | ClinVar dbSNP gnomAD v4 |
7 | g.117559486_117559487delinsTG | CA1737384147 | CFTR,CFTR-AS1 | c.1415_1416delinsTG (p.Met472=) c.*1129_*1130delinsTG (n.*1129_*1130delinsTG) c.1232_1233delinsTG (p.Met411=) c.1410_1411delinsTG (p.Tyr470=) c.*1239_*1240delinsTG (n.*1239_*1240delinsTG) c.989_990delinsTG (p.Met330=) c.1325_1326delinsTG (p.Met442=) c.1505_1506delinsTG (p.Met502=) c.1172_1173delinsTG (p.Met391=) n.221+1246_221+1247delinsCA | |
7 | g.117559487G>A | CA368984337 | CFTR,CFTR-AS1 | c.1416G>A (p.Met472Ile) c.*1130G>A (n.*1130G>A) c.1233G>A (p.Met411Ile) c.1411G>A (p.Gly471Arg) c.*1240G>A (n.*1240G>A) c.990G>A (p.Met330Ile) c.1326G>A (p.Met442Ile) c.1506G>A (p.Met502Ile) c.1173G>A (p.Met391Ile) n.221+1246C>T | |
7 | g.117559487G>C | CA368984338 | CFTR,CFTR-AS1 | c.1416G>C (p.Met472Ile) c.*1130G>C (n.*1130G>C) c.1233G>C (p.Met411Ile) c.1411G>C (p.Gly471Arg) c.*1240G>C (n.*1240G>C) c.990G>C (p.Met330Ile) c.1326G>C (p.Met442Ile) c.1506G>C (p.Met502Ile) c.1173G>C (p.Met391Ile) n.221+1246C>G | |
7 | g.117559487G>T | CA368984339 | CFTR,CFTR-AS1 | c.1416G>T (p.Met472Ile) c.*1130G>T (n.*1130G>T) c.1233G>T (p.Met411Ile) c.1411G>T (p.Gly471Trp) c.*1240G>T (n.*1240G>T) c.990G>T (p.Met330Ile) c.1326G>T (p.Met442Ile) c.1506G>T (p.Met502Ile) c.1173G>T (p.Met391Ile) n.221+1246C>A | |
7 | g.117559489del | CA326480 | CFTR,CFTR-AS1 | c.1418del (p.Gly473GlufsTer?) c.*1132del (n.*1132del) c.1235del (p.Gly412GlufsTer?) c.1413del (p.Arg472GlufsTer?) c.*1242del (n.*1242del) c.992del (p.Gly331GlufsTer?) c.1328del (p.Gly443GlufsTer?) c.1508del (p.Gly503GlufsTer?) c.1175del (p.Gly392GlufsTer?) n.221+1246del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559488G>A | CA368984340 | CFTR,CFTR-AS1 | c.1417G>A (p.Gly473Arg) c.*1131G>A (n.*1131G>A) c.1234G>A (p.Gly412Arg) c.1412G>A (p.Gly471Glu) c.*1241G>A (n.*1241G>A) c.991G>A (p.Gly331Arg) c.1327G>A (p.Gly443Arg) c.1507G>A (p.Gly503Arg) c.1174G>A (p.Gly392Arg) n.221+1245C>T | ClinVar dbSNP |
7 | g.117559488G>C | CA368984342 | CFTR,CFTR-AS1 | c.1417G>C (p.Gly473Arg) c.*1131G>C (n.*1131G>C) c.1234G>C (p.Gly412Arg) c.1412G>C (p.Gly471Ala) c.*1241G>C (n.*1241G>C) c.991G>C (p.Gly331Arg) c.1327G>C (p.Gly443Arg) c.1507G>C (p.Gly503Arg) c.1174G>C (p.Gly392Arg) n.221+1245C>G | |
7 | g.117559488G= | CA1737384160 | CFTR,CFTR-AS1 | c.1417G= (p.Gly473=) c.*1131G= (n.*1131G=) c.1234G= (p.Gly412=) c.1412G= (p.Gly471=) c.*1241G= (n.*1241G=) c.991G= (p.Gly331=) c.1327G= (p.Gly443=) c.1507G= (p.Gly503=) c.1174G= (p.Gly392=) n.221+1245C= | |
7 | g.117559488G>T | CA368984345 | CFTR,CFTR-AS1 | c.1417G>T (p.Gly473Ter) c.*1131G>T (n.*1131G>T) c.1234G>T (p.Gly412Ter) c.1412G>T (p.Gly471Val) c.*1241G>T (n.*1241G>T) c.991G>T (p.Gly331Ter) c.1327G>T (p.Gly443Ter) c.1507G>T (p.Gly503Ter) c.1174G>T (p.Gly392Ter) n.221+1245C>A | gnomAD v4 |
7 | g.117559489G>A | CA368984346 | CFTR,CFTR-AS1 | c.1418G>A (p.Gly473Glu) c.*1132G>A (n.*1132G>A) c.1235G>A (p.Gly412Glu) c.1413G>A (p.Gly471=) c.*1242G>A (n.*1242G>A) c.992G>A (p.Gly331Glu) c.1328G>A (p.Gly443Glu) c.1508G>A (p.Gly503Glu) c.1175G>A (p.Gly392Glu) n.221+1244C>T | COSMIC |
7 | g.117559489G>C | CA368984349 | CFTR,CFTR-AS1 | c.1418G>C (p.Gly473Ala) c.*1132G>C (n.*1132G>C) c.1235G>C (p.Gly412Ala) c.1413G>C (p.Gly471=) c.*1242G>C (n.*1242G>C) c.992G>C (p.Gly331Ala) c.1328G>C (p.Gly443Ala) c.1508G>C (p.Gly503Ala) c.1175G>C (p.Gly392Ala) n.221+1244C>G | |
7 | g.117559489G>T | CA368984347 | CFTR,CFTR-AS1 | c.1418G>T (p.Gly473Val) c.*1132G>T (n.*1132G>T) c.1235G>T (p.Gly412Val) c.1413G>T (p.Gly471=) c.*1242G>T (n.*1242G>T) c.992G>T (p.Gly331Val) c.1328G>T (p.Gly443Val) c.1508G>T (p.Gly503Val) c.1175G>T (p.Gly392Val) n.221+1244C>A | |
7 | g.117559490A>C | CA457228754 | CFTR,CFTR-AS1 | c.1419A>C (p.Gly473=) c.*1133A>C (n.*1133A>C) c.1236A>C (p.Gly412=) c.1414A>C (p.Arg472=) c.*1243A>C (n.*1243A>C) c.993A>C (p.Gly331=) c.1329A>C (p.Gly443=) c.1509A>C (p.Gly503=) c.1176A>C (p.Gly392=) n.221+1243T>G | |
7 | g.117559490A>G | CA457228753 | CFTR,CFTR-AS1 | c.1419A>G (p.Gly473=) c.*1133A>G (n.*1133A>G) c.1236A>G (p.Gly412=) c.1414A>G (p.Arg472Gly) c.*1243A>G (n.*1243A>G) c.993A>G (p.Gly331=) c.1329A>G (p.Gly443=) c.1509A>G (p.Gly503=) c.1176A>G (p.Gly392=) n.221+1243T>C | |
7 | g.117559490A>T | CA457228755 | CFTR,CFTR-AS1 | c.1419A>T (p.Gly473=) c.*1133A>T (n.*1133A>T) c.1236A>T (p.Gly412=) c.1414A>T (p.Arg472Ter) c.*1243A>T (n.*1243A>T) c.993A>T (p.Gly331=) c.1329A>T (p.Gly443=) c.1509A>T (p.Gly503=) c.1176A>T (p.Gly392=) n.221+1243T>A | |
7 | g.117559491G>A | CA164967631 | CFTR,CFTR-AS1 | c.1420G>A (p.Glu474Lys) c.*1134G>A (n.*1134G>A) c.1237G>A (p.Glu413Lys) c.1415G>A (p.Arg472Lys) c.*1244G>A (n.*1244G>A) c.994G>A (p.Glu332Lys) c.1330G>A (p.Glu444Lys) c.1510G>A (p.Glu504Lys) c.1177G>A (p.Glu393Lys) n.221+1242C>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559491G>C | CA4451003 | CFTR,CFTR-AS1 | c.1420G>C (p.Glu474Gln) c.*1134G>C (n.*1134G>C) c.1237G>C (p.Glu413Gln) c.1415G>C (p.Arg472Thr) c.*1244G>C (n.*1244G>C) c.994G>C (p.Glu332Gln) c.1330G>C (p.Glu444Gln) c.1510G>C (p.Glu504Gln) c.1177G>C (p.Glu393Gln) n.221+1242C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559491G= | CA1737384170 | CFTR,CFTR-AS1 | c.1420G= (p.Glu474=) c.*1134G= (n.*1134G=) c.1237G= (p.Glu413=) c.1415G= (p.Arg472=) c.*1244G= (n.*1244G=) c.994G= (p.Glu332=) c.1330G= (p.Glu444=) c.1510G= (p.Glu504=) c.1177G= (p.Glu393=) n.221+1242C= | |
7 | g.117559491G>T | CA368984352 | CFTR,CFTR-AS1 | c.1420G>T (p.Glu474Ter) c.*1134G>T (n.*1134G>T) c.1237G>T (p.Glu413Ter) c.1415G>T (p.Arg472Ile) c.*1244G>T (n.*1244G>T) c.994G>T (p.Glu332Ter) c.1330G>T (p.Glu444Ter) c.1510G>T (p.Glu504Ter) c.1177G>T (p.Glu393Ter) n.221+1242C>A | ClinVar dbSNP |
7 | g.117559492A= | CA1737384180 | CFTR,CFTR-AS1 | c.1421A= (p.Glu474=) c.*1135A= (n.*1135A=) c.1238A= (p.Glu413=) c.1416A= (p.Arg472=) c.*1245A= (n.*1245A=) c.995A= (p.Glu332=) c.1331A= (p.Glu444=) c.1511A= (p.Glu504=) c.1178A= (p.Glu393=) n.221+1241T= | |
7 | g.117559492A>C | CA368984353 | CFTR,CFTR-AS1 | c.1421A>C (p.Glu474Ala) c.*1135A>C (n.*1135A>C) c.1238A>C (p.Glu413Ala) c.1416A>C (p.Arg472Ser) c.*1245A>C (n.*1245A>C) c.995A>C (p.Glu332Ala) c.1331A>C (p.Glu444Ala) c.1511A>C (p.Glu504Ala) c.1178A>C (p.Glu393Ala) n.221+1241T>G | |
7 | g.117559492A>G | CA368984355 | CFTR,CFTR-AS1 | c.1421A>G (p.Glu474Gly) c.*1135A>G (n.*1135A>G) c.1238A>G (p.Glu413Gly) c.1416A>G (p.Arg472=) c.*1245A>G (n.*1245A>G) c.995A>G (p.Glu332Gly) c.1331A>G (p.Glu444Gly) c.1511A>G (p.Glu504Gly) c.1178A>G (p.Glu393Gly) n.221+1241T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559492A>T | CA368984356 | CFTR,CFTR-AS1 | c.1421A>T (p.Glu474Val) c.*1135A>T (n.*1135A>T) c.1238A>T (p.Glu413Val) c.1416A>T (p.Arg472Ser) c.*1245A>T (n.*1245A>T) c.995A>T (p.Glu332Val) c.1331A>T (p.Glu444Val) c.1511A>T (p.Glu504Val) c.1178A>T (p.Glu393Val) n.221+1241T>A | |
7 | g.117559493A= | CA1737384185 | CFTR,CFTR-AS1 | c.1422A= (p.Glu474=) c.*1136A= (n.*1136A=) c.1239A= (p.Glu413=) c.1417A= (p.Thr473=) c.*1246A= (n.*1246A=) c.996A= (p.Glu332=) c.1332A= (p.Glu444=) c.1512A= (p.Glu504=) c.1179A= (p.Glu393=) n.221+1240T= | |
7 | g.117559493A>C | CA368984357 | CFTR,CFTR-AS1 | c.1422A>C (p.Glu474Asp) c.*1136A>C (n.*1136A>C) c.1239A>C (p.Glu413Asp) c.1417A>C (p.Thr473Pro) c.*1246A>C (n.*1246A>C) c.996A>C (p.Glu332Asp) c.1332A>C (p.Glu444Asp) c.1512A>C (p.Glu504Asp) c.1179A>C (p.Glu393Asp) n.221+1240T>G | |
7 | g.117559493A>G | CA457228756 | CFTR,CFTR-AS1 | c.1422A>G (p.Glu474=) c.*1136A>G (n.*1136A>G) c.1239A>G (p.Glu413=) c.1417A>G (p.Thr473Ala) c.*1246A>G (n.*1246A>G) c.996A>G (p.Glu332=) c.1332A>G (p.Glu444=) c.1512A>G (p.Glu504=) c.1179A>G (p.Glu393=) n.221+1240T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559493A>T | CA368984358 | CFTR,CFTR-AS1 | c.1422A>T (p.Glu474Asp) c.*1136A>T (n.*1136A>T) c.1239A>T (p.Glu413Asp) c.1417A>T (p.Thr473Ser) c.*1246A>T (n.*1246A>T) c.996A>T (p.Glu332Asp) c.1332A>T (p.Glu444Asp) c.1512A>T (p.Glu504Asp) c.1179A>T (p.Glu393Asp) n.221+1240T>A | |
7 | g.117559494del | CA2695199618 | CFTR,CFTR-AS1 | c.1423del (p.Leu475TrpfsTer?) c.*1137del (n.*1137del) c.1240del (p.Leu414TrpfsTer?) c.1418del (p.Thr473MetfsTer?) c.*1247del (n.*1247del) c.997del (p.Leu333TrpfsTer?) c.1333del (p.Leu445TrpfsTer?) c.1513del (p.Leu505TrpfsTer?) c.1180del (p.Leu394TrpfsTer?) n.221+1239del | ClinVar |
7 | g.117559494C>A | CA368984360 | CFTR,CFTR-AS1 | c.1423C>A (p.Leu475Met) c.*1137C>A (n.*1137C>A) c.1240C>A (p.Leu414Met) c.1418C>A (p.Thr473Asn) c.*1247C>A (n.*1247C>A) c.997C>A (p.Leu333Met) c.1333C>A (p.Leu445Met) c.1513C>A (p.Leu505Met) c.1180C>A (p.Leu394Met) n.221+1239G>T | gnomAD v4 |
7 | g.117559494C>G | CA368984362 | CFTR,CFTR-AS1 | c.1423C>G (p.Leu475Val) c.*1137C>G (n.*1137C>G) c.1240C>G (p.Leu414Val) c.1418C>G (p.Thr473Ser) c.*1247C>G (n.*1247C>G) c.997C>G (p.Leu333Val) c.1333C>G (p.Leu445Val) c.1513C>G (p.Leu505Val) c.1180C>G (p.Leu394Val) n.221+1239G>C | ClinVar |
7 | g.117559494C>T | CA457228757 | CFTR,CFTR-AS1 | c.1423C>T (p.Leu475=) c.*1137C>T (n.*1137C>T) c.1240C>T (p.Leu414=) c.1418C>T (p.Thr473Ile) c.*1247C>T (n.*1247C>T) c.997C>T (p.Leu333=) c.1333C>T (p.Leu445=) c.1513C>T (p.Leu505=) c.1180C>T (p.Leu394=) n.221+1239G>A | ClinVar |
7 | g.117559495T>A | CA368984365 | CFTR,CFTR-AS1 | c.1424T>A (p.Leu475Gln) c.*1138T>A (n.*1138T>A) c.1241T>A (p.Leu414Gln) c.1419T>A (p.Thr473=) c.*1248T>A (n.*1248T>A) c.998T>A (p.Leu333Gln) c.1334T>A (p.Leu445Gln) c.1514T>A (p.Leu505Gln) c.1181T>A (p.Leu394Gln) n.221+1238A>T | |
7 | g.117559495T>C | CA368984367 | CFTR,CFTR-AS1 | c.1424T>C (p.Leu475Pro) c.*1138T>C (n.*1138T>C) c.1241T>C (p.Leu414Pro) c.1419T>C (p.Thr473=) c.*1248T>C (n.*1248T>C) c.998T>C (p.Leu333Pro) c.1334T>C (p.Leu445Pro) c.1514T>C (p.Leu505Pro) c.1181T>C (p.Leu394Pro) n.221+1238A>G | |
7 | g.117559495T>G | CA368984364 | CFTR,CFTR-AS1 | c.1424T>G (p.Leu475Arg) c.*1138T>G (n.*1138T>G) c.1241T>G (p.Leu414Arg) c.1419T>G (p.Thr473=) c.*1248T>G (n.*1248T>G) c.998T>G (p.Leu333Arg) c.1334T>G (p.Leu445Arg) c.1514T>G (p.Leu505Arg) c.1181T>G (p.Leu394Arg) n.221+1238A>C | |
7 | g.117559496G>A | CA457228758 | CFTR,CFTR-AS1 | c.1425G>A (p.Leu475=) c.*1139G>A (n.*1139G>A) c.1242G>A (p.Leu414=) c.1420G>A (p.Gly474Arg) c.*1249G>A (n.*1249G>A) c.999G>A (p.Leu333=) c.1335G>A (p.Leu445=) c.1515G>A (p.Leu505=) c.1182G>A (p.Leu394=) n.221+1237C>T | COSMIC |
7 | g.117559496G>C | CA457228760 | CFTR,CFTR-AS1 | c.1425G>C (p.Leu475=) c.*1139G>C (n.*1139G>C) c.1242G>C (p.Leu414=) c.1420G>C (p.Gly474Arg) c.*1249G>C (n.*1249G>C) c.999G>C (p.Leu333=) c.1335G>C (p.Leu445=) c.1515G>C (p.Leu505=) c.1182G>C (p.Leu394=) n.221+1237C>G | |
7 | g.117559496G= | CA1737384188 | CFTR,CFTR-AS1 | c.1425G= (p.Leu475=) c.*1139G= (n.*1139G=) c.1242G= (p.Leu414=) c.1420G= (p.Gly474=) c.*1249G= (n.*1249G=) c.999G= (p.Leu333=) c.1335G= (p.Leu445=) c.1515G= (p.Leu505=) c.1182G= (p.Leu394=) n.221+1237C= | |
7 | g.117559496G>T | CA457228759 | CFTR,CFTR-AS1 | c.1425G>T (p.Leu475=) c.*1139G>T (n.*1139G>T) c.1242G>T (p.Leu414=) c.1420G>T (p.Gly474Ter) c.*1249G>T (n.*1249G>T) c.999G>T (p.Leu333=) c.1335G>T (p.Leu445=) c.1515G>T (p.Leu505=) c.1182G>T (p.Leu394=) n.221+1237C>A | dbSNP |
7 | g.117559497G>A | CA368984371 | CFTR,CFTR-AS1 | c.1426G>A (p.Glu476Lys) c.*1140G>A (n.*1140G>A) c.1243G>A (p.Glu415Lys) c.1421G>A (p.Gly474Glu) c.*1250G>A (n.*1250G>A) c.1000G>A (p.Glu334Lys) c.1336G>A (p.Glu446Lys) c.1516G>A (p.Glu506Lys) c.1183G>A (p.Glu395Lys) n.221+1236C>T | |
7 | g.117559497G>C | CA368984368 | CFTR,CFTR-AS1 | c.1426G>C (p.Glu476Gln) c.*1140G>C (n.*1140G>C) c.1243G>C (p.Glu415Gln) c.1421G>C (p.Gly474Ala) c.*1250G>C (n.*1250G>C) c.1000G>C (p.Glu334Gln) c.1336G>C (p.Glu446Gln) c.1516G>C (p.Glu506Gln) c.1183G>C (p.Glu395Gln) n.221+1236C>G | |
7 | g.117559497G>T | CA368984369 | CFTR,CFTR-AS1 | c.1426G>T (p.Glu476Ter) c.*1140G>T (n.*1140G>T) c.1243G>T (p.Glu415Ter) c.1421G>T (p.Gly474Val) c.*1250G>T (n.*1250G>T) c.1000G>T (p.Glu334Ter) c.1336G>T (p.Glu446Ter) c.1516G>T (p.Glu506Ter) c.1183G>T (p.Glu395Ter) n.221+1236C>A | |
7 | g.117559500_117559508del | CA2695208318 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559498A>C | CA368984372 | CFTR,CFTR-AS1 | c.1427A>C (p.Glu476Ala) c.*1141A>C (n.*1141A>C) c.1244A>C (p.Glu415Ala) c.1422A>C (p.Gly474=) c.*1251A>C (n.*1251A>C) c.1001A>C (p.Glu334Ala) c.1337A>C (p.Glu446Ala) c.1517A>C (p.Glu506Ala) c.1184A>C (p.Glu395Ala) n.221+1235T>G | |
7 | g.117559498A>G | CA368984374 | CFTR,CFTR-AS1 | c.1427A>G (p.Glu476Gly) c.*1141A>G (n.*1141A>G) c.1244A>G (p.Glu415Gly) c.1422A>G (p.Gly474=) c.*1251A>G (n.*1251A>G) c.1001A>G (p.Glu334Gly) c.1337A>G (p.Glu446Gly) c.1517A>G (p.Glu506Gly) c.1184A>G (p.Glu395Gly) n.221+1235T>C | |
7 | g.117559498A>T | CA368984376 | CFTR,CFTR-AS1 | c.1427A>T (p.Glu476Val) c.*1141A>T (n.*1141A>T) c.1244A>T (p.Glu415Val) c.1422A>T (p.Gly474=) c.*1251A>T (n.*1251A>T) c.1001A>T (p.Glu334Val) c.1337A>T (p.Glu446Val) c.1517A>T (p.Glu506Val) c.1184A>T (p.Glu395Val) n.221+1235T>A | |
7 | g.117559499G>A | CA457228761 | CFTR,CFTR-AS1 | c.1428G>A (p.Glu476=) c.*1142G>A (n.*1142G>A) c.1245G>A (p.Glu415=) c.1423G>A (p.Ala475Thr) c.*1252G>A (n.*1252G>A) c.1002G>A (p.Glu334=) c.1338G>A (p.Glu446=) c.1518G>A (p.Glu506=) c.1185G>A (p.Glu395=) n.221+1234C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117559499G>C | CA368984377 | CFTR,CFTR-AS1 | c.1428G>C (p.Glu476Asp) c.*1142G>C (n.*1142G>C) c.1245G>C (p.Glu415Asp) c.1423G>C (p.Ala475Pro) c.*1252G>C (n.*1252G>C) c.1002G>C (p.Glu334Asp) c.1338G>C (p.Glu446Asp) c.1518G>C (p.Glu506Asp) c.1185G>C (p.Glu395Asp) n.221+1234C>G | |
7 | g.117559499G= | CA1737384191 | CFTR,CFTR-AS1 | c.1428G= (p.Glu476=) c.*1142G= (n.*1142G=) c.1245G= (p.Glu415=) c.1423G= (p.Ala475=) c.*1252G= (n.*1252G=) c.1002G= (p.Glu334=) c.1338G= (p.Glu446=) c.1518G= (p.Glu506=) c.1185G= (p.Glu395=) n.221+1234C= | |
7 | g.117559499G>T | CA368984379 | CFTR,CFTR-AS1 | c.1428G>T (p.Glu476Asp) c.*1142G>T (n.*1142G>T) c.1245G>T (p.Glu415Asp) c.1423G>T (p.Ala475Ser) c.*1252G>T (n.*1252G>T) c.1002G>T (p.Glu334Asp) c.1338G>T (p.Glu446Asp) c.1518G>T (p.Glu506Asp) c.1185G>T (p.Glu395Asp) n.221+1234C>A | |
7 | g.117559500C>A | CA368984381 | CFTR,CFTR-AS1 | c.1429C>A (p.Pro477Thr) c.*1143C>A (n.*1143C>A) c.1246C>A (p.Pro416Thr) c.1424C>A (p.Ala475Asp) c.*1253C>A (n.*1253C>A) c.1003C>A (p.Pro335Thr) c.1339C>A (p.Pro447Thr) c.1519C>A (p.Pro507Thr) c.1186C>A (p.Pro396Thr) n.221+1233G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559500C= | CA1737384202 | CFTR,CFTR-AS1 | c.1429C= (p.Pro477=) c.*1143C= (n.*1143C=) c.1246C= (p.Pro416=) c.1424C= (p.Ala475=) c.*1253C= (n.*1253C=) c.1003C= (p.Pro335=) c.1339C= (p.Pro447=) c.1519C= (p.Pro507=) c.1186C= (p.Pro396=) n.221+1233G= | |
7 | g.117559500C>G | CA368984382 | CFTR,CFTR-AS1 | c.1429C>G (p.Pro477Ala) c.*1143C>G (n.*1143C>G) c.1246C>G (p.Pro416Ala) c.1424C>G (p.Ala475Gly) c.*1253C>G (n.*1253C>G) c.1003C>G (p.Pro335Ala) c.1339C>G (p.Pro447Ala) c.1519C>G (p.Pro507Ala) c.1186C>G (p.Pro396Ala) n.221+1233G>C | dbSNP gnomAD v4 |
7 | g.117559500C>T | CA4451004 | CFTR,CFTR-AS1 | c.1429C>T (p.Pro477Ser) c.*1143C>T (n.*1143C>T) c.1246C>T (p.Pro416Ser) c.1424C>T (p.Ala475Val) c.*1253C>T (n.*1253C>T) c.1003C>T (p.Pro335Ser) c.1339C>T (p.Pro447Ser) c.1519C>T (p.Pro507Ser) c.1186C>T (p.Pro396Ser) n.221+1233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559501C>A | CA10606584 | CFTR,CFTR-AS1 | c.1430C>A (p.Pro477His) c.*1144C>A (n.*1144C>A) c.1247C>A (p.Pro416His) c.1425C>A (p.Ala475=) c.*1254C>A (n.*1254C>A) c.1004C>A (p.Pro335His) c.1340C>A (p.Pro447His) c.1520C>A (p.Pro507His) c.1187C>A (p.Pro396His) n.221+1232G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559501C= | CA1737384214 | CFTR,CFTR-AS1 | c.1430C= (p.Pro477=) c.*1144C= (n.*1144C=) c.1247C= (p.Pro416=) c.1425C= (p.Ala475=) c.*1254C= (n.*1254C=) c.1004C= (p.Pro335=) c.1340C= (p.Pro447=) c.1520C= (p.Pro507=) c.1187C= (p.Pro396=) n.221+1232G= | |
7 | g.117559501C>G | CA368984386 | CFTR,CFTR-AS1 | c.1430C>G (p.Pro477Arg) c.*1144C>G (n.*1144C>G) c.1247C>G (p.Pro416Arg) c.1425C>G (p.Ala475=) c.*1254C>G (n.*1254C>G) c.1004C>G (p.Pro335Arg) c.1340C>G (p.Pro447Arg) c.1520C>G (p.Pro507Arg) c.1187C>G (p.Pro396Arg) n.221+1232G>C | |
7 | g.117559501C>T | CA368984387 | CFTR,CFTR-AS1 | c.1430C>T (p.Pro477Leu) c.*1144C>T (n.*1144C>T) c.1247C>T (p.Pro416Leu) c.1425C>T (p.Ala475=) c.*1254C>T (n.*1254C>T) c.1004C>T (p.Pro335Leu) c.1340C>T (p.Pro447Leu) c.1520C>T (p.Pro507Leu) c.1187C>T (p.Pro396Leu) n.221+1232G>A | ClinVar dbSNP |
7 | g.117559502T>A | CA457228762 | CFTR,CFTR-AS1 | c.1431T>A (p.Pro477=) c.*1145T>A (n.*1145T>A) c.1248T>A (p.Pro416=) c.1426T>A (p.Phe476Ile) c.*1255T>A (n.*1255T>A) c.1005T>A (p.Pro335=) c.1341T>A (p.Pro447=) c.1521T>A (p.Pro507=) c.1188T>A (p.Pro396=) n.221+1231A>T | |
7 | g.117559502T>C | CA457228763 | CFTR,CFTR-AS1 | c.1431T>C (p.Pro477=) c.*1145T>C (n.*1145T>C) c.1248T>C (p.Pro416=) c.1426T>C (p.Phe476Leu) c.*1255T>C (n.*1255T>C) c.1005T>C (p.Pro335=) c.1341T>C (p.Pro447=) c.1521T>C (p.Pro507=) c.1188T>C (p.Pro396=) n.221+1231A>G | ClinVar dbSNP |
7 | g.117559502T>G | CA457228764 | CFTR,CFTR-AS1 | c.1431T>G (p.Pro477=) c.*1145T>G (n.*1145T>G) c.1248T>G (p.Pro416=) c.1426T>G (p.Phe476Val) c.*1255T>G (n.*1255T>G) c.1005T>G (p.Pro335=) c.1341T>G (p.Pro447=) c.1521T>G (p.Pro507=) c.1188T>G (p.Pro396=) n.221+1231A>C | |
7 | g.117559502T= | CA1737384220 | CFTR,CFTR-AS1 | c.1431T= (p.Pro477=) c.*1145T= (n.*1145T=) c.1248T= (p.Pro416=) c.1426T= (p.Phe476=) c.*1255T= (n.*1255T=) c.1005T= (p.Pro335=) c.1341T= (p.Pro447=) c.1521T= (p.Pro507=) c.1188T= (p.Pro396=) n.221+1231A= | |
7 | g.117559503T>A | CA368984391 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503T>C | CA368984389 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503T>G | CA368984390 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503_117559505delinsTCA | CA1737384224 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>A | CA368984393 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>G | CA368984394 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>T | CA368984396 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559504_117559505del | CA326481 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559505A>C | CA457228765 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559505A>G | CA457228766 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559505A>T | CA457228767 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G>A | CA368984399 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G>C | CA368984402 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G= | CA1737384230 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559506G>T | CA326482 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A= | CA1737384233 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559507A>C | CA10605638 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A>G | CA368984405 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A>T | CA368984407 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559508G>A | CA457228768 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559508G>C | CA4451005 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559508G= | CA1737384241 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559508G>T | CA368984408 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510del | CA2695208319 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559508_117559509insA | CA2573335088 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509G>A | CA326484 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559509G>C | CA368984411 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509G= | CA1737384253 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559509G>T | CA221007 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559509delinsAC | CA1139655061 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509delinsAT | CA2573335089 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509delinsCC | CA1139532033 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509_117559510insT | CA2573332261 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510G>A | CA326486 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559510G>C | CA368984414 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510G= | CA1737384261 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559510G>T | CA368984416 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T>A | CA457228769 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559511T>C | CA164967688 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T>G | CA457228770 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T= | CA1737384264 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559512A= | CA1737384266 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559512A>C | CA368984418 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559512A>G | CA164967690 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559512A>T | CA368984420 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>C | CA368984422 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>G | CA368984424 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>T | CA368984425 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514A>C | CA368984427 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514A>G | CA457228771 | CFTR,CFTR-AS1 | c.1443A>G (p.Lys481=) c.*1157A>G (n.*1157A>G) c.1260A>G (p.Lys420=) c.*1A>G (n.*1A>G) c.*1267A>G (n.*1267A>G) c.1017A>G (p.Lys339=) c.1353A>G (p.Lys451=) c.1533A>G (p.Lys511=) c.1200A>G (p.Lys400=) n.221+1219T>C | |
7 | g.117559514A>T | CA368984428 | CFTR,CFTR-AS1 | c.1443A>T (p.Lys481Asn) c.*1157A>T (n.*1157A>T) c.1260A>T (p.Lys420Asn) c.*1A>T (n.*1A>T) c.*1267A>T (n.*1267A>T) c.1017A>T (p.Lys339Asn) c.1353A>T (p.Lys451Asn) c.1533A>T (p.Lys511Asn) c.1200A>T (p.Lys400Asn) n.221+1219T>A | |
7 | g.117559514_117559515insT | CA2695208320 | CFTR,CFTR-AS1 | c.1443_1444insT (p.Ile482TyrfsTer2) c.*1157_*1158insT (n.*1157_*1158insT) c.1260_1261insT (p.Ile421TyrfsTer2) c.*1_*2insT (n.*1_*2insT) c.*1267_*1268insT (n.*1267_*1268insT) c.1017_1018insT (p.Ile340TyrfsTer2) c.1353_1354insT (p.Ile452TyrfsTer2) c.1533_1534insT (p.Ile512TyrfsTer2) c.1200_1201insT (p.Ile401TyrfsTer2) n.221+1218_221+1219insA | |
7 | g.117559515A= | CA1737384269 | CFTR,CFTR-AS1 | c.1444A= (p.Ile482=) c.*1158A= (n.*1158A=) c.1261A= (p.Ile421=) c.*2A= (n.*2A=) c.*1268A= (n.*1268A=) c.1018A= (p.Ile340=) c.1354A= (p.Ile452=) c.1534A= (p.Ile512=) c.1201A= (p.Ile401=) n.221+1218T= | |
7 | g.117559515A>C | CA368984433 | CFTR,CFTR-AS1 | c.1444A>C (p.Ile482Leu) c.*1158A>C (n.*1158A>C) c.1261A>C (p.Ile421Leu) c.*2A>C (n.*2A>C) c.*1268A>C (n.*1268A>C) c.1018A>C (p.Ile340Leu) c.1354A>C (p.Ile452Leu) c.1534A>C (p.Ile512Leu) c.1201A>C (p.Ile401Leu) n.221+1218T>G | |
7 | g.117559515A>G | CA368984434 | CFTR,CFTR-AS1 | c.1444A>G (p.Ile482Val) c.*1158A>G (n.*1158A>G) c.1261A>G (p.Ile421Val) c.*2A>G (n.*2A>G) c.*1268A>G (n.*1268A>G) c.1018A>G (p.Ile340Val) c.1354A>G (p.Ile452Val) c.1534A>G (p.Ile512Val) c.1201A>G (p.Ile401Val) n.221+1218T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559515A>T | CA368984431 | CFTR,CFTR-AS1 | c.1444A>T (p.Ile482Phe) c.*1158A>T (n.*1158A>T) c.1261A>T (p.Ile421Phe) c.*2A>T (n.*2A>T) c.*1268A>T (n.*1268A>T) c.1018A>T (p.Ile340Phe) c.1354A>T (p.Ile452Phe) c.1534A>T (p.Ile512Phe) c.1201A>T (p.Ile401Phe) n.221+1218T>A | |
7 | g.117559516T>A | CA368984436 | CFTR,CFTR-AS1 | c.1445T>A (p.Ile482Asn) c.*1159T>A (n.*1159T>A) c.1262T>A (p.Ile421Asn) c.*3T>A (n.*3T>A) c.*1269T>A (n.*1269T>A) c.1019T>A (p.Ile340Asn) c.1355T>A (p.Ile452Asn) c.1535T>A (p.Ile512Asn) c.1202T>A (p.Ile401Asn) n.221+1217A>T | |
7 | g.117559516T>C | CA368984438 | CFTR,CFTR-AS1 | c.1445T>C (p.Ile482Thr) c.*1159T>C (n.*1159T>C) c.1262T>C (p.Ile421Thr) c.*3T>C (n.*3T>C) c.*1269T>C (n.*1269T>C) c.1019T>C (p.Ile340Thr) c.1355T>C (p.Ile452Thr) c.1535T>C (p.Ile512Thr) c.1202T>C (p.Ile401Thr) n.221+1217A>G | |
7 | g.117559516T>G | CA368984440 | CFTR,CFTR-AS1 | c.1445T>G (p.Ile482Ser) c.*1159T>G (n.*1159T>G) c.1262T>G (p.Ile421Ser) c.*3T>G (n.*3T>G) c.*1269T>G (n.*1269T>G) c.1019T>G (p.Ile340Ser) c.1355T>G (p.Ile452Ser) c.1535T>G (p.Ile512Ser) c.1202T>G (p.Ile401Ser) n.221+1217A>C | |
7 | g.117559517dup | CA326488 | CFTR,CFTR-AS1 | c.1446dup (p.Lys483Ter) c.*1160dup (n.*1160dup) c.1263dup (p.Lys422Ter) c.*4dup (n.*4dup) c.*1270dup (n.*1270dup) c.1020dup (p.Lys341Ter) c.1356dup (p.Lys453Ter) c.1536dup (p.Lys513Ter) c.1203dup (p.Lys402Ter) n.221+1217dup | ClinVar dbSNP |
7 | g.117559517T>A | CA164967692 | CFTR,CFTR-AS1 | c.1446T>A (p.Ile482=) c.*1160T>A (n.*1160T>A) c.1263T>A (p.Ile421=) c.*4T>A (n.*4T>A) c.*1270T>A (n.*1270T>A) c.1020T>A (p.Ile340=) c.1356T>A (p.Ile452=) c.1536T>A (p.Ile512=) c.1203T>A (p.Ile401=) n.221+1216A>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559517T>C | CA457228772 | CFTR,CFTR-AS1 | c.1446T>C (p.Ile482=) c.*1160T>C (n.*1160T>C) c.1263T>C (p.Ile421=) c.*4T>C (n.*4T>C) c.*1270T>C (n.*1270T>C) c.1020T>C (p.Ile340=) c.1356T>C (p.Ile452=) c.1536T>C (p.Ile512=) c.1203T>C (p.Ile401=) n.221+1216A>G | |
7 | g.117559517T>G | CA368984441 | CFTR,CFTR-AS1 | c.1446T>G (p.Ile482Met) c.*1160T>G (n.*1160T>G) c.1263T>G (p.Ile421Met) c.*4T>G (n.*4T>G) c.*1270T>G (n.*1270T>G) c.1020T>G (p.Ile340Met) c.1356T>G (p.Ile452Met) c.1536T>G (p.Ile512Met) c.1203T>G (p.Ile401Met) n.221+1216A>C | |
7 | g.117559517T= | CA1737384276 | CFTR,CFTR-AS1 | c.1446T= (p.Ile482=) c.*1160T= (n.*1160T=) c.1263T= (p.Ile421=) c.*4T= (n.*4T=) c.*1270T= (n.*1270T=) c.1020T= (p.Ile340=) c.1356T= (p.Ile452=) c.1536T= (p.Ile512=) c.1203T= (p.Ile401=) n.221+1216A= | |
7 | g.117559518A= | CA1737384283 | CFTR,CFTR-AS1 | c.1447A= (p.Lys483=) c.*1161A= (n.*1161A=) c.1264A= (p.Lys422=) c.*5A= (n.*5A=) c.*1271A= (n.*1271A=) c.1021A= (p.Lys341=) c.1357A= (p.Lys453=) c.1537A= (p.Lys513=) c.1204A= (p.Lys402=) n.221+1215T= | |
7 | g.117559518A>C | CA368984446 | CFTR,CFTR-AS1 | c.1447A>C (p.Lys483Gln) c.*1161A>C (n.*1161A>C) c.1264A>C (p.Lys422Gln) c.*5A>C (n.*5A>C) c.*1271A>C (n.*1271A>C) c.1021A>C (p.Lys341Gln) c.1357A>C (p.Lys453Gln) c.1537A>C (p.Lys513Gln) c.1204A>C (p.Lys402Gln) n.221+1215T>G | |
7 | g.117559518A>G | CA368984443 | CFTR,CFTR-AS1 | c.1447A>G (p.Lys483Glu) c.*1161A>G (n.*1161A>G) c.1264A>G (p.Lys422Glu) c.*5A>G (n.*5A>G) c.*1271A>G (n.*1271A>G) c.1021A>G (p.Lys341Glu) c.1357A>G (p.Lys453Glu) c.1537A>G (p.Lys513Glu) c.1204A>G (p.Lys402Glu) n.221+1215T>C | |
7 | g.117559518A>T | CA368984445 | CFTR,CFTR-AS1 | c.1447A>T (p.Lys483Ter) c.*1161A>T (n.*1161A>T) c.1264A>T (p.Lys422Ter) c.*5A>T (n.*5A>T) c.*1271A>T (n.*1271A>T) c.1021A>T (p.Lys341Ter) c.1357A>T (p.Lys453Ter) c.1537A>T (p.Lys513Ter) c.1204A>T (p.Lys402Ter) n.221+1215T>A | ClinVar dbSNP |
7 | g.117559519A>C | CA368984447 | CFTR,CFTR-AS1 | c.1448A>C (p.Lys483Thr) c.*1162A>C (n.*1162A>C) c.1265A>C (p.Lys422Thr) c.*6A>C (n.*6A>C) c.*1272A>C (n.*1272A>C) c.1022A>C (p.Lys341Thr) c.1358A>C (p.Lys453Thr) c.1538A>C (p.Lys513Thr) c.1205A>C (p.Lys402Thr) n.221+1214T>G | |
7 | g.117559519A>G | CA368984448 | CFTR,CFTR-AS1 | c.1448A>G (p.Lys483Arg) c.*1162A>G (n.*1162A>G) c.1265A>G (p.Lys422Arg) c.*6A>G (n.*6A>G) c.*1272A>G (n.*1272A>G) c.1022A>G (p.Lys341Arg) c.1358A>G (p.Lys453Arg) c.1538A>G (p.Lys513Arg) c.1205A>G (p.Lys402Arg) n.221+1214T>C | |
7 | g.117559519A>T | CA368984450 | CFTR,CFTR-AS1 | c.1448A>T (p.Lys483Met) c.*1162A>T (n.*1162A>T) c.1265A>T (p.Lys422Met) c.*6A>T (n.*6A>T) c.*1272A>T (n.*1272A>T) c.1022A>T (p.Lys341Met) c.1358A>T (p.Lys453Met) c.1538A>T (p.Lys513Met) c.1205A>T (p.Lys402Met) n.221+1214T>A | |
7 | g.117559520G>A | CA457228773 | CFTR,CFTR-AS1 | c.1449G>A (p.Lys483=) c.*1163G>A (n.*1163G>A) c.1266G>A (p.Lys422=) c.*7G>A (n.*7G>A) c.*1273G>A (n.*1273G>A) c.1023G>A (p.Lys341=) c.1359G>A (p.Lys453=) c.1539G>A (p.Lys513=) c.1206G>A (p.Lys402=) n.221+1213C>T | ClinVar |
7 | g.117559520G>C | CA368984452 | CFTR,CFTR-AS1 | c.1449G>C (p.Lys483Asn) c.*1163G>C (n.*1163G>C) c.1266G>C (p.Lys422Asn) c.*7G>C (n.*7G>C) c.*1273G>C (n.*1273G>C) c.1023G>C (p.Lys341Asn) c.1359G>C (p.Lys453Asn) c.1539G>C (p.Lys513Asn) c.1206G>C (p.Lys402Asn) n.221+1213C>G | |
7 | g.117559520G>T | CA368984453 | CFTR,CFTR-AS1 | c.1449G>T (p.Lys483Asn) c.*1163G>T (n.*1163G>T) c.1266G>T (p.Lys422Asn) c.*7G>T (n.*7G>T) c.*1273G>T (n.*1273G>T) c.1023G>T (p.Lys341Asn) c.1359G>T (p.Lys453Asn) c.1539G>T (p.Lys513Asn) c.1206G>T (p.Lys402Asn) n.221+1213C>A | |
7 | g.117559521C>A | CA368984457 | CFTR,CFTR-AS1 | c.1450C>A (p.His484Asn) c.*1164C>A (n.*1164C>A) c.1267C>A (p.His423Asn) c.*8C>A (n.*8C>A) c.*1274C>A (n.*1274C>A) c.1024C>A (p.His342Asn) c.1360C>A (p.His454Asn) c.1540C>A (p.His514Asn) c.1207C>A (p.His403Asn) n.221+1212G>T | |
7 | g.117559521C= | CA1737384290 | CFTR,CFTR-AS1 | c.1450C= (p.His484=) c.*1164C= (n.*1164C=) c.1267C= (p.His423=) c.*8C= (n.*8C=) c.*1274C= (n.*1274C=) c.1024C= (p.His342=) c.1360C= (p.His454=) c.1540C= (p.His514=) c.1207C= (p.His403=) n.221+1212G= | |
7 | g.117559521C>G | CA368984455 | CFTR,CFTR-AS1 | c.1450C>G (p.His484Asp) c.*1164C>G (n.*1164C>G) c.1267C>G (p.His423Asp) c.*8C>G (n.*8C>G) c.*1274C>G (n.*1274C>G) c.1024C>G (p.His342Asp) c.1360C>G (p.His454Asp) c.1540C>G (p.His514Asp) c.1207C>G (p.His403Asp) n.221+1212G>C | |
7 | g.117559521C>T | CA326489 | CFTR,CFTR-AS1 | c.1450C>T (p.His484Tyr) c.*1164C>T (n.*1164C>T) c.1267C>T (p.His423Tyr) c.*8C>T (n.*8C>T) c.*1274C>T (n.*1274C>T) c.1024C>T (p.His342Tyr) c.1360C>T (p.His454Tyr) c.1540C>T (p.His514Tyr) c.1207C>T (p.His403Tyr) n.221+1212G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559522A= | CA1737384294 | CFTR,CFTR-AS1 | c.1451A= (p.His484=) c.*1165A= (n.*1165A=) c.1268A= (p.His423=) c.*9A= (n.*9A=) c.*1275A= (n.*1275A=) c.1025A= (p.His342=) c.1361A= (p.His454=) c.1541A= (p.His514=) c.1208A= (p.His403=) n.221+1211T= | |
7 | g.117559522A>C | CA368984458 | CFTR,CFTR-AS1 | c.1451A>C (p.His484Pro) c.*1165A>C (n.*1165A>C) c.1268A>C (p.His423Pro) c.*9A>C (n.*9A>C) c.*1275A>C (n.*1275A>C) c.1025A>C (p.His342Pro) c.1361A>C (p.His454Pro) c.1541A>C (p.His514Pro) c.1208A>C (p.His403Pro) n.221+1211T>G | |
7 | g.117559522A>G | CA368984461 | CFTR,CFTR-AS1 | c.1451A>G (p.His484Arg) c.*1165A>G (n.*1165A>G) c.1268A>G (p.His423Arg) c.*9A>G (n.*9A>G) c.*1275A>G (n.*1275A>G) c.1025A>G (p.His342Arg) c.1361A>G (p.His454Arg) c.1541A>G (p.His514Arg) c.1208A>G (p.His403Arg) n.221+1211T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559522A>T | CA368984460 | CFTR,CFTR-AS1 | c.1451A>T (p.His484Leu) c.*1165A>T (n.*1165A>T) c.1268A>T (p.His423Leu) c.*9A>T (n.*9A>T) c.*1275A>T (n.*1275A>T) c.1025A>T (p.His342Leu) c.1361A>T (p.His454Leu) c.1541A>T (p.His514Leu) c.1208A>T (p.His403Leu) n.221+1211T>A | |
7 | g.117559523C>A | CA368984463 | CFTR,CFTR-AS1 | c.1452C>A (p.His484Gln) c.*1166C>A (n.*1166C>A) c.1269C>A (p.His423Gln) c.*10C>A (n.*10C>A) c.*1276C>A (n.*1276C>A) c.1026C>A (p.His342Gln) c.1362C>A (p.His454Gln) c.1542C>A (p.His514Gln) c.1209C>A (p.His403Gln) n.221+1210G>T | |
7 | g.117559523C>G | CA368984464 | CFTR,CFTR-AS1 | c.1452C>G (p.His484Gln) c.*1166C>G (n.*1166C>G) c.1269C>G (p.His423Gln) c.*10C>G (n.*10C>G) c.*1276C>G (n.*1276C>G) c.1026C>G (p.His342Gln) c.1362C>G (p.His454Gln) c.1542C>G (p.His514Gln) c.1209C>G (p.His403Gln) n.221+1210G>C | |
7 | g.117559523C>T | CA457228774 | CFTR,CFTR-AS1 | c.1452C>T (p.His484=) c.*1166C>T (n.*1166C>T) c.1269C>T (p.His423=) c.*10C>T (n.*10C>T) c.*1276C>T (n.*1276C>T) c.1026C>T (p.His342=) c.1362C>T (p.His454=) c.1542C>T (p.His514=) c.1209C>T (p.His403=) n.221+1210G>A | ClinVar |
7 | g.117559524A= | CA1737384297 | CFTR,CFTR-AS1 | c.1453A= (p.Ser485=) c.*1167A= (n.*1167A=) c.1270A= (p.Ser424=) c.*11A= (n.*11A=) c.*1277A= (n.*1277A=) c.1027A= (p.Ser343=) c.1363A= (p.Ser455=) c.1543A= (p.Ser515=) c.1210A= (p.Ser404=) n.221+1209T= | |
7 | g.117559524A>C | CA368984465 | CFTR,CFTR-AS1 | c.1453A>C (p.Ser485Arg) c.*1167A>C (n.*1167A>C) c.1270A>C (p.Ser424Arg) c.*11A>C (n.*11A>C) c.*1277A>C (n.*1277A>C) c.1027A>C (p.Ser343Arg) c.1363A>C (p.Ser455Arg) c.1543A>C (p.Ser515Arg) c.1210A>C (p.Ser404Arg) n.221+1209T>G | |
7 | g.117559524A>G | CA368984466 | CFTR,CFTR-AS1 | c.1453A>G (p.Ser485Gly) c.*1167A>G (n.*1167A>G) c.1270A>G (p.Ser424Gly) c.*11A>G (n.*11A>G) c.*1277A>G (n.*1277A>G) c.1027A>G (p.Ser343Gly) c.1363A>G (p.Ser455Gly) c.1543A>G (p.Ser515Gly) c.1210A>G (p.Ser404Gly) n.221+1209T>C | dbSNP gnomAD v2 |
7 | g.117559524A>T | CA326491 | CFTR,CFTR-AS1 | c.1453A>T (p.Ser485Cys) c.*1167A>T (n.*1167A>T) c.1270A>T (p.Ser424Cys) c.*11A>T (n.*11A>T) c.*1277A>T (n.*1277A>T) c.1027A>T (p.Ser343Cys) c.1363A>T (p.Ser455Cys) c.1543A>T (p.Ser515Cys) c.1210A>T (p.Ser404Cys) n.221+1209T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559525G>A | CA368984468 | CFTR,CFTR-AS1 | c.1454G>A (p.Ser485Asn) c.*1168G>A (n.*1168G>A) c.1271G>A (p.Ser424Asn) c.*12G>A (n.*12G>A) c.*1278G>A (n.*1278G>A) c.1028G>A (p.Ser343Asn) c.1364G>A (p.Ser455Asn) c.1544G>A (p.Ser515Asn) c.1211G>A (p.Ser404Asn) n.221+1208C>T | dbSNP gnomAD v2 |
7 | g.117559525G>C | CA4451006 | CFTR,CFTR-AS1 | c.1454G>C (p.Ser485Thr) c.*1168G>C (n.*1168G>C) c.1271G>C (p.Ser424Thr) c.*12G>C (n.*12G>C) c.*1278G>C (n.*1278G>C) c.1028G>C (p.Ser343Thr) c.1364G>C (p.Ser455Thr) c.1544G>C (p.Ser515Thr) c.1211G>C (p.Ser404Thr) n.221+1208C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559525G= | CA1737384305 | CFTR,CFTR-AS1 | c.1454G= (p.Ser485=) c.*1168G= (n.*1168G=) c.1271G= (p.Ser424=) c.*12G= (n.*12G=) c.*1278G= (n.*1278G=) c.1028G= (p.Ser343=) c.1364G= (p.Ser455=) c.1544G= (p.Ser515=) c.1211G= (p.Ser404=) n.221+1208C= | |
7 | g.117559525G>T | CA368984470 | CFTR,CFTR-AS1 | c.1454G>T (p.Ser485Ile) c.*1168G>T (n.*1168G>T) c.1271G>T (p.Ser424Ile) c.*12G>T (n.*12G>T) c.*1278G>T (n.*1278G>T) c.1028G>T (p.Ser343Ile) c.1364G>T (p.Ser455Ile) c.1544G>T (p.Ser515Ile) c.1211G>T (p.Ser404Ile) n.221+1208C>A | |
7 | g.117559526T>A | CA368984471 | CFTR,CFTR-AS1 | c.1455T>A (p.Ser485Arg) c.*1169T>A (n.*1169T>A) c.1272T>A (p.Ser424Arg) c.*13T>A (n.*13T>A) c.*1279T>A (n.*1279T>A) c.1029T>A (p.Ser343Arg) c.1365T>A (p.Ser455Arg) c.1545T>A (p.Ser515Arg) c.1212T>A (p.Ser404Arg) n.221+1207A>T | |
7 | g.117559526T>C | CA457228775 | CFTR,CFTR-AS1 | c.1455T>C (p.Ser485=) c.*1169T>C (n.*1169T>C) c.1272T>C (p.Ser424=) c.*13T>C (n.*13T>C) c.*1279T>C (n.*1279T>C) c.1029T>C (p.Ser343=) c.1365T>C (p.Ser455=) c.1545T>C (p.Ser515=) c.1212T>C (p.Ser404=) n.221+1207A>G | ClinVar |
7 | g.117559526T>G | CA368984472 | CFTR,CFTR-AS1 | c.1455T>G (p.Ser485Arg) c.*1169T>G (n.*1169T>G) c.1272T>G (p.Ser424Arg) c.*13T>G (n.*13T>G) c.*1279T>G (n.*1279T>G) c.1029T>G (p.Ser343Arg) c.1365T>G (p.Ser455Arg) c.1545T>G (p.Ser515Arg) c.1212T>G (p.Ser404Arg) n.221+1207A>C | |
7 | g.117559527G>A | CA368984474 | CFTR,CFTR-AS1 | c.1456G>A (p.Gly486Arg) c.*1170G>A (n.*1170G>A) c.1273G>A (p.Gly425Arg) c.*14G>A (n.*14G>A) c.*1280G>A (n.*1280G>A) c.1030G>A (p.Gly344Arg) c.1366G>A (p.Gly456Arg) c.1546G>A (p.Gly516Arg) c.1213G>A (p.Gly405Arg) n.221+1206C>T | |
7 | g.117559527G>C | CA368984475 | CFTR,CFTR-AS1 | c.1456G>C (p.Gly486Arg) c.*1170G>C (n.*1170G>C) c.1273G>C (p.Gly425Arg) c.*14G>C (n.*14G>C) c.*1280G>C (n.*1280G>C) c.1030G>C (p.Gly344Arg) c.1366G>C (p.Gly456Arg) c.1546G>C (p.Gly516Arg) c.1213G>C (p.Gly405Arg) n.221+1206C>G | |
7 | g.117559527G>T | CA368984477 | CFTR,CFTR-AS1 | c.1456G>T (p.Gly486Ter) c.*1170G>T (n.*1170G>T) c.1273G>T (p.Gly425Ter) c.*14G>T (n.*14G>T) c.*1280G>T (n.*1280G>T) c.1030G>T (p.Gly344Ter) c.1366G>T (p.Gly456Ter) c.1546G>T (p.Gly516Ter) c.1213G>T (p.Gly405Ter) n.221+1206C>A | |
7 | g.117559528G>A | CA368984481 | CFTR,CFTR-AS1 | c.1457G>A (p.Gly486Glu) c.*1171G>A (n.*1171G>A) c.1274G>A (p.Gly425Glu) c.*15G>A (n.*15G>A) c.*1281G>A (n.*1281G>A) c.1031G>A (p.Gly344Glu) c.1367G>A (p.Gly456Glu) c.1547G>A (p.Gly516Glu) c.1214G>A (p.Gly405Glu) n.221+1205C>T | |
7 | g.117559528G>C | CA368984478 | CFTR,CFTR-AS1 | c.1457G>C (p.Gly486Ala) c.*1171G>C (n.*1171G>C) c.1274G>C (p.Gly425Ala) c.*15G>C (n.*15G>C) c.*1281G>C (n.*1281G>C) c.1031G>C (p.Gly344Ala) c.1367G>C (p.Gly456Ala) c.1547G>C (p.Gly516Ala) c.1214G>C (p.Gly405Ala) n.221+1205C>G | |
7 | g.117559528G>T | CA368984480 | CFTR,CFTR-AS1 | c.1457G>T (p.Gly486Val) c.*1171G>T (n.*1171G>T) c.1274G>T (p.Gly425Val) c.*15G>T (n.*15G>T) c.*1281G>T (n.*1281G>T) c.1031G>T (p.Gly344Val) c.1367G>T (p.Gly456Val) c.1547G>T (p.Gly516Val) c.1214G>T (p.Gly405Val) n.221+1205C>A | gnomAD v4 |
7 | g.117559529A= | CA1737384314 | CFTR,CFTR-AS1 | c.1458A= (p.Gly486=) c.*1172A= (n.*1172A=) c.1275A= (p.Gly425=) c.*16A= (n.*16A=) c.*1282A= (n.*1282A=) c.1032A= (p.Gly344=) c.1368A= (p.Gly456=) c.1548A= (p.Gly516=) c.1215A= (p.Gly405=) n.221+1204T= | |
7 | g.117559529A>C | CA457228776 | CFTR,CFTR-AS1 | c.1458A>C (p.Gly486=) c.*1172A>C (n.*1172A>C) c.1275A>C (p.Gly425=) c.*16A>C (n.*16A>C) c.*1282A>C (n.*1282A>C) c.1032A>C (p.Gly344=) c.1368A>C (p.Gly456=) c.1548A>C (p.Gly516=) c.1215A>C (p.Gly405=) n.221+1204T>G | |
7 | g.117559529A>G | CA164967698 | CFTR,CFTR-AS1 | c.1458A>G (p.Gly486=) c.*1172A>G (n.*1172A>G) c.1275A>G (p.Gly425=) c.*16A>G (n.*16A>G) c.*1282A>G (n.*1282A>G) c.1032A>G (p.Gly344=) c.1368A>G (p.Gly456=) c.1548A>G (p.Gly516=) c.1215A>G (p.Gly405=) n.221+1204T>C | ClinVar dbSNP |
7 | g.117559529A>T | CA457228777 | CFTR,CFTR-AS1 | c.1458A>T (p.Gly486=) c.*1172A>T (n.*1172A>T) c.1275A>T (p.Gly425=) c.*16A>T (n.*16A>T) c.*1282A>T (n.*1282A>T) c.1032A>T (p.Gly344=) c.1368A>T (p.Gly456=) c.1548A>T (p.Gly516=) c.1215A>T (p.Gly405=) n.221+1204T>A | |
7 | g.117559530A>C | CA457228778 | CFTR,CFTR-AS1 | c.1459A>C (p.Arg487=) c.*1173A>C (n.*1173A>C) c.1276A>C (p.Arg426=) c.*17A>C (n.*17A>C) c.*1283A>C (n.*1283A>C) c.1033A>C (p.Arg345=) c.1369A>C (p.Arg457=) c.1549A>C (p.Arg517=) c.1216A>C (p.Arg406=) n.221+1203T>G | |
7 | g.117559530A>G | CA368984483 | CFTR,CFTR-AS1 | c.1459A>G (p.Arg487Gly) c.*1173A>G (n.*1173A>G) c.1276A>G (p.Arg426Gly) c.*17A>G (n.*17A>G) c.*1283A>G (n.*1283A>G) c.1033A>G (p.Arg345Gly) c.1369A>G (p.Arg457Gly) c.1549A>G (p.Arg517Gly) c.1216A>G (p.Arg406Gly) n.221+1203T>C | |
7 | g.117559530A>T | CA368984484 | CFTR,CFTR-AS1 | c.1459A>T (p.Arg487Ter) c.*1173A>T (n.*1173A>T) c.1276A>T (p.Arg426Ter) c.*17A>T (n.*17A>T) c.*1283A>T (n.*1283A>T) c.1033A>T (p.Arg345Ter) c.1369A>T (p.Arg457Ter) c.1549A>T (p.Arg517Ter) c.1216A>T (p.Arg406Ter) n.221+1203T>A | |
7 | g.117559531G>A | CA4451007 | CFTR,CFTR-AS1 | c.1460G>A (p.Arg487Lys) c.*1174G>A (n.*1174G>A) c.1277G>A (p.Arg426Lys) c.*18G>A (n.*18G>A) c.*1284G>A (n.*1284G>A) c.1034G>A (p.Arg345Lys) c.1370G>A (p.Arg457Lys) c.1550G>A (p.Arg517Lys) c.1217G>A (p.Arg406Lys) n.221+1202C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559531G>C | CA368984487 | CFTR,CFTR-AS1 | c.1460G>C (p.Arg487Thr) c.*1174G>C (n.*1174G>C) c.1277G>C (p.Arg426Thr) c.*18G>C (n.*18G>C) c.*1284G>C (n.*1284G>C) c.1034G>C (p.Arg345Thr) c.1370G>C (p.Arg457Thr) c.1550G>C (p.Arg517Thr) c.1217G>C (p.Arg406Thr) n.221+1202C>G | |
7 | g.117559531G= | CA1737384319 | CFTR,CFTR-AS1 | c.1460G= (p.Arg487=) c.*1174G= (n.*1174G=) c.1277G= (p.Arg426=) c.*18G= (n.*18G=) c.*1284G= (n.*1284G=) c.1034G= (p.Arg345=) c.1370G= (p.Arg457=) c.1550G= (p.Arg517=) c.1217G= (p.Arg406=) n.221+1202C= | |
7 | g.117559531G>T | CA368984488 | CFTR,CFTR-AS1 | c.1460G>T (p.Arg487Ile) c.*1174G>T (n.*1174G>T) c.1277G>T (p.Arg426Ile) c.*18G>T (n.*18G>T) c.*1284G>T (n.*1284G>T) c.1034G>T (p.Arg345Ile) c.1370G>T (p.Arg457Ile) c.1550G>T (p.Arg517Ile) c.1217G>T (p.Arg406Ile) n.221+1202C>A | COSMIC |
7 | g.117559532A>C | CA368984490 | CFTR,CFTR-AS1 | c.1461A>C (p.Arg487Ser) c.*1175A>C (n.*1175A>C) c.1278A>C (p.Arg426Ser) c.*19A>C (n.*19A>C) c.*1285A>C (n.*1285A>C) c.1035A>C (p.Arg345Ser) c.1371A>C (p.Arg457Ser) c.1551A>C (p.Arg517Ser) c.1218A>C (p.Arg406Ser) n.221+1201T>G | |
7 | g.117559532A>G | CA457228779 | CFTR,CFTR-AS1 | c.1461A>G (p.Arg487=) c.*1175A>G (n.*1175A>G) c.1278A>G (p.Arg426=) c.*19A>G (n.*19A>G) c.*1285A>G (n.*1285A>G) c.1035A>G (p.Arg345=) c.1371A>G (p.Arg457=) c.1551A>G (p.Arg517=) c.1218A>G (p.Arg406=) n.221+1201T>C | gnomAD v4 |
7 | g.117559532A>T | CA368984492 | CFTR,CFTR-AS1 | c.1461A>T (p.Arg487Ser) c.*1175A>T (n.*1175A>T) c.1278A>T (p.Arg426Ser) c.*19A>T (n.*19A>T) c.*1285A>T (n.*1285A>T) c.1035A>T (p.Arg345Ser) c.1371A>T (p.Arg457Ser) c.1551A>T (p.Arg517Ser) c.1218A>T (p.Arg406Ser) n.221+1201T>A | |
7 | g.117559533A>C | CA368984493 | CFTR,CFTR-AS1 | c.1462A>C (p.Ile488Leu) c.*1176A>C (n.*1176A>C) c.1279A>C (p.Ile427Leu) c.*20A>C (n.*20A>C) c.*1286A>C (n.*1286A>C) c.1036A>C (p.Ile346Leu) c.1372A>C (p.Ile458Leu) c.1552A>C (p.Ile518Leu) c.1219A>C (p.Ile407Leu) n.221+1200T>G | |
7 | g.117559533A>G | CA368984494 | CFTR,CFTR-AS1 | c.1462A>G (p.Ile488Val) c.*1176A>G (n.*1176A>G) c.1279A>G (p.Ile427Val) c.*20A>G (n.*20A>G) c.*1286A>G (n.*1286A>G) c.1036A>G (p.Ile346Val) c.1372A>G (p.Ile458Val) c.1552A>G (p.Ile518Val) c.1219A>G (p.Ile407Val) n.221+1200T>C | |
7 | g.117559533A>T | CA368984496 | CFTR,CFTR-AS1 | c.1462A>T (p.Ile488Phe) c.*1176A>T (n.*1176A>T) c.1279A>T (p.Ile427Phe) c.*20A>T (n.*20A>T) c.*1286A>T (n.*1286A>T) c.1036A>T (p.Ile346Phe) c.1372A>T (p.Ile458Phe) c.1552A>T (p.Ile518Phe) c.1219A>T (p.Ile407Phe) n.221+1200T>A | |
7 | g.117559536_117559540del | CA2573141542 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559534T>A | CA368984499 | CFTR,CFTR-AS1 | c.1463T>A (p.Ile488Asn) c.*1177T>A (n.*1177T>A) c.1280T>A (p.Ile427Asn) c.*21T>A (n.*21T>A) c.*1287T>A (n.*1287T>A) c.1037T>A (p.Ile346Asn) c.1373T>A (p.Ile458Asn) c.1553T>A (p.Ile518Asn) c.1220T>A (p.Ile407Asn) n.221+1199A>T | |
7 | g.117559534T>C | CA368984501 | CFTR,CFTR-AS1 | c.1463T>C (p.Ile488Thr) c.*1177T>C (n.*1177T>C) c.1280T>C (p.Ile427Thr) c.*21T>C (n.*21T>C) c.*1287T>C (n.*1287T>C) c.1037T>C (p.Ile346Thr) c.1373T>C (p.Ile458Thr) c.1553T>C (p.Ile518Thr) c.1220T>C (p.Ile407Thr) n.221+1199A>G | |
7 | g.117559534T>G | CA368984498 | CFTR,CFTR-AS1 | c.1463T>G (p.Ile488Ser) c.*1177T>G (n.*1177T>G) c.1280T>G (p.Ile427Ser) c.*21T>G (n.*21T>G) c.*1287T>G (n.*1287T>G) c.1037T>G (p.Ile346Ser) c.1373T>G (p.Ile458Ser) c.1553T>G (p.Ile518Ser) c.1220T>G (p.Ile407Ser) n.221+1199A>C | |
7 | g.117559535_117559547del | CA2573141543 | CFTR,CFTR-AS1 | c.1464_1476del (p.Cys491ProfsTer?) c.*1178_*1190del (n.*1178_*1190del) c.1281_1293del (p.Cys430ProfsTer?) c.*22_*34del (n.*22_*34del) c.*1288_*1300del (n.*1288_*1300del) c.1038_1050del (p.Cys349ProfsTer?) c.1374_1386del (p.Cys461ProfsTer?) c.1554_1566del (p.Cys521ProfsTer?) c.1221_1233del (p.Cys410ProfsTer?) n.221+1187_221+1199del | ClinVar dbSNP |
7 | g.117559535T>A | CA457228781 | CFTR,CFTR-AS1 | c.1464T>A (p.Ile488=) c.*1178T>A (n.*1178T>A) c.1281T>A (p.Ile427=) c.*22T>A (n.*22T>A) c.*1288T>A (n.*1288T>A) c.1038T>A (p.Ile346=) c.1374T>A (p.Ile458=) c.1554T>A (p.Ile518=) c.1221T>A (p.Ile407=) n.221+1198A>T | |
7 | g.117559535T>C | CA457228780 | CFTR,CFTR-AS1 | c.1464T>C (p.Ile488=) c.*1178T>C (n.*1178T>C) c.1281T>C (p.Ile427=) c.*22T>C (n.*22T>C) c.*1288T>C (n.*1288T>C) c.1038T>C (p.Ile346=) c.1374T>C (p.Ile458=) c.1554T>C (p.Ile518=) c.1221T>C (p.Ile407=) n.221+1198A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559535T>G | CA368984502 | CFTR,CFTR-AS1 | c.1464T>G (p.Ile488Met) c.*1178T>G (n.*1178T>G) c.1281T>G (p.Ile427Met) c.*22T>G (n.*22T>G) c.*1288T>G (n.*1288T>G) c.1038T>G (p.Ile346Met) c.1374T>G (p.Ile458Met) c.1554T>G (p.Ile518Met) c.1221T>G (p.Ile407Met) n.221+1198A>C | |
7 | g.117559535T= | CA1737384326 | CFTR,CFTR-AS1 | c.1464T= (p.Ile488=) c.*1178T= (n.*1178T=) c.1281T= (p.Ile427=) c.*22T= (n.*22T=) c.*1288T= (n.*1288T=) c.1038T= (p.Ile346=) c.1374T= (p.Ile458=) c.1554T= (p.Ile518=) c.1221T= (p.Ile407=) n.221+1198A= | |
7 | g.117559536T>A | CA368984504 | CFTR,CFTR-AS1 | c.1465T>A (p.Ser489Thr) c.*1179T>A (n.*1179T>A) c.1282T>A (p.Ser428Thr) c.*23T>A (n.*23T>A) c.*1289T>A (n.*1289T>A) c.1039T>A (p.Ser347Thr) c.1375T>A (p.Ser459Thr) c.1555T>A (p.Ser519Thr) c.1222T>A (p.Ser408Thr) n.221+1197A>T | |
7 | g.117559536T>C | CA368984505 | CFTR,CFTR-AS1 | c.1465T>C (p.Ser489Pro) c.*1179T>C (n.*1179T>C) c.1282T>C (p.Ser428Pro) c.*23T>C (n.*23T>C) c.*1289T>C (n.*1289T>C) c.1039T>C (p.Ser347Pro) c.1375T>C (p.Ser459Pro) c.1555T>C (p.Ser519Pro) c.1222T>C (p.Ser408Pro) n.221+1197A>G | |
7 | g.117559536T>G | CA368984507 | CFTR,CFTR-AS1 | c.1465T>G (p.Ser489Ala) c.*1179T>G (n.*1179T>G) c.1282T>G (p.Ser428Ala) c.*23T>G (n.*23T>G) c.*1289T>G (n.*1289T>G) c.1039T>G (p.Ser347Ala) c.1375T>G (p.Ser459Ala) c.1555T>G (p.Ser519Ala) c.1222T>G (p.Ser408Ala) n.221+1197A>C |