UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117604867_117612068del | CA913190213 | CFTR | c.2908+1085_3367+260del c.*2622+1085_*3081+260del c.2725+1085_3184+260del c.*1208+1085_*1667+260del c.*2732+1085_*3191+260del c.2482+1085_2941+260del c.499+1085_958+260del c.558+1085_1017+260del c.1690+1085_2149+260del c.2818+1085_3277+260del c.2998+1085_3457+260del c.2665+1085_3124+260del | ClinVar |
| 7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | ClinVar |
| 7 | g.117606676_117611810del | CA913190200 | CFTR | c.2911_3367+2del c.*2625_*3081+2del c.2728_3184+2del c.*1211_*1667+2del c.*2735_*3191+2del c.2485_2941+2del c.502_958+2del c.561_1017+2del c.1693_2149+2del c.2821_3277+2del c.3001_3457+2del c.2668_3124+2del | ClinVar |
| 7 | g.117607926_117616824del | CA1139532136 | CFTR | c.2988+1173_3468+2111del c.*2702+1173_*3182+2111del c.2805+1173_3285+2111del c.*1288+1173_*1843+2111del c.2988+1173_3462+2111del c.*2812+1173_*3292+2111del c.2562+1173_3042+2111del c.579+1173_1059+2111del c.638+1173_1118+2111del c.1770+1173_2250+2111del c.2898+1173_3378+2111del c.3078+1173_3558+2111del c.2745+1173_3225+2111del | |
| 7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | ClinVar |
| 7 | g.117609542_117612056del | CA325807 | CFTR | c.2989-977_3367+248del c.*2703-977_*3081+248del c.2806-977_3184+248del c.*1289-977_*1667+248del c.*2813-977_*3191+248del c.2563-977_2941+248del c.580-977_958+248del c.639-977_1017+248del c.1771-977_2149+248del c.2899-977_3277+248del c.3079-977_3457+248del c.2746-977_3124+248del | ClinVar |
| 7 | g.117610519_117611808del | CA913189830 | CFTR | c.2989_3367del c.*2703_*3081del c.2806_3184del c.*1289_*1667del c.*2813_*3191del c.2563_2941del c.580_958del c.639_1017del c.1771_2149del c.2899_3277del c.3079_3457del c.2746_3124del | ClinVar |
| 7 | g.117610519_117614713del | CA913189831 | CFTR | c.2989_3468del c.*2703_*3182del c.2806_3285del c.*1289_*1843del c.2989_3462del c.*2813_*3292del c.2563_3042del c.580_1059del c.639_1118del c.1771_2250del c.2899_3378del c.3079_3558del c.2746_3225del | ClinVar |
| 7 | g.117611537G>A | CA4451393 | CFTR | c.3140-44G>A (n.3140-44G>A) c.*2854-44G>A (n.*2854-44G>A) c.2957-44G>A (n.2957-44G>A) c.*1440-44G>A (n.*1440-44G>A) c.*2964-44G>A (n.*2964-44G>A) c.2714-44G>A (n.2714-44G>A) c.731-44G>A (n.731-44G>A) c.790-44G>A c.1922-44G>A (n.1922-44G>A) c.3050-44G>A (n.3050-44G>A) c.3230-44G>A (n.3230-44G>A) c.2897-44G>A (n.2897-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611537G= | CA1737386546 | CFTR | c.3140-44G= (n.3140-44G=) c.*2854-44G= (n.*2854-44G=) c.2957-44G= (n.2957-44G=) c.*1440-44G= (n.*1440-44G=) c.*2964-44G= (n.*2964-44G=) c.2714-44G= (n.2714-44G=) c.731-44G= (n.731-44G=) c.790-44G= c.1922-44G= (n.1922-44G=) c.3050-44G= (n.3050-44G=) c.3230-44G= (n.3230-44G=) c.2897-44G= (n.2897-44G=) | |
| 7 | g.117611537G>T | CA2684588430 | CFTR | c.3140-44G>T (n.3140-44G>T) c.*2854-44G>T (n.*2854-44G>T) c.2957-44G>T (n.2957-44G>T) c.*1440-44G>T (n.*1440-44G>T) c.*2964-44G>T (n.*2964-44G>T) c.2714-44G>T (n.2714-44G>T) c.731-44G>T (n.731-44G>T) c.790-44G>T c.1922-44G>T (n.1922-44G>T) c.3050-44G>T (n.3050-44G>T) c.3230-44G>T (n.3230-44G>T) c.2897-44G>T (n.2897-44G>T) | gnomAD v4 |
| 7 | g.117611539G= | CA1737386550 | CFTR | c.3140-42G= (n.3140-42G=) c.*2854-42G= (n.*2854-42G=) c.2957-42G= (n.2957-42G=) c.*1440-42G= (n.*1440-42G=) c.*2964-42G= (n.*2964-42G=) c.2714-42G= (n.2714-42G=) c.731-42G= (n.731-42G=) c.790-42G= c.1922-42G= (n.1922-42G=) c.3050-42G= (n.3050-42G=) c.3230-42G= (n.3230-42G=) c.2897-42G= (n.2897-42G=) | |
| 7 | g.117611539G>T | CA1737386551 | CFTR | c.3140-42G>T (n.3140-42G>T) c.*2854-42G>T (n.*2854-42G>T) c.2957-42G>T (n.2957-42G>T) c.*1440-42G>T (n.*1440-42G>T) c.*2964-42G>T (n.*2964-42G>T) c.2714-42G>T (n.2714-42G>T) c.731-42G>T (n.731-42G>T) c.790-42G>T c.1922-42G>T (n.1922-42G>T) c.3050-42G>T (n.3050-42G>T) c.3230-42G>T (n.3230-42G>T) c.2897-42G>T (n.2897-42G>T) | dbSNP gnomAD v4 |
| 7 | g.117611540T>A | CA2684588431 | CFTR | c.3140-41T>A (n.3140-41T>A) c.*2854-41T>A (n.*2854-41T>A) c.2957-41T>A (n.2957-41T>A) c.*1440-41T>A (n.*1440-41T>A) c.*2964-41T>A (n.*2964-41T>A) c.2714-41T>A (n.2714-41T>A) c.731-41T>A (n.731-41T>A) c.790-41T>A c.1922-41T>A (n.1922-41T>A) c.3050-41T>A (n.3050-41T>A) c.3230-41T>A (n.3230-41T>A) c.2897-41T>A (n.2897-41T>A) | gnomAD v4 |
| 7 | g.117611541T>G | CA832118701 | CFTR | c.3140-40T>G (n.3140-40T>G) c.*2854-40T>G (n.*2854-40T>G) c.2957-40T>G (n.2957-40T>G) c.*1440-40T>G (n.*1440-40T>G) c.*2964-40T>G (n.*2964-40T>G) c.2714-40T>G (n.2714-40T>G) c.731-40T>G (n.731-40T>G) c.790-40T>G c.1922-40T>G (n.1922-40T>G) c.3050-40T>G (n.3050-40T>G) c.3230-40T>G (n.3230-40T>G) c.2897-40T>G (n.2897-40T>G) | dbSNP |
| 7 | g.117611541T= | CA1737386552 | CFTR | c.3140-40T= (n.3140-40T=) c.*2854-40T= (n.*2854-40T=) c.2957-40T= (n.2957-40T=) c.*1440-40T= (n.*1440-40T=) c.*2964-40T= (n.*2964-40T=) c.2714-40T= (n.2714-40T=) c.731-40T= (n.731-40T=) c.790-40T= c.1922-40T= (n.1922-40T=) c.3050-40T= (n.3050-40T=) c.3230-40T= (n.3230-40T=) c.2897-40T= (n.2897-40T=) | |
| 7 | g.117611543A= | CA1737386557 | CFTR | c.3140-38A= (n.3140-38A=) c.*2854-38A= (n.*2854-38A=) c.2957-38A= (n.2957-38A=) c.*1440-38A= (n.*1440-38A=) c.*2964-38A= (n.*2964-38A=) c.2714-38A= (n.2714-38A=) c.731-38A= (n.731-38A=) c.790-38A= c.1922-38A= (n.1922-38A=) c.3050-38A= (n.3050-38A=) c.3230-38A= (n.3230-38A=) c.2897-38A= (n.2897-38A=) | |
| 7 | g.117611543A>C | CA2532918825 | CFTR | c.3140-38A>C (n.3140-38A>C) c.*2854-38A>C (n.*2854-38A>C) c.2957-38A>C (n.2957-38A>C) c.*1440-38A>C (n.*1440-38A>C) c.*2964-38A>C (n.*2964-38A>C) c.2714-38A>C (n.2714-38A>C) c.731-38A>C (n.731-38A>C) c.790-38A>C c.1922-38A>C (n.1922-38A>C) c.3050-38A>C (n.3050-38A>C) c.3230-38A>C (n.3230-38A>C) c.2897-38A>C (n.2897-38A>C) | |
| 7 | g.117611543A>G | CA2684588432 | CFTR | c.3140-38A>G (n.3140-38A>G) c.*2854-38A>G (n.*2854-38A>G) c.2957-38A>G (n.2957-38A>G) c.*1440-38A>G (n.*1440-38A>G) c.*2964-38A>G (n.*2964-38A>G) c.2714-38A>G (n.2714-38A>G) c.731-38A>G (n.731-38A>G) c.790-38A>G c.1922-38A>G (n.1922-38A>G) c.3050-38A>G (n.3050-38A>G) c.3230-38A>G (n.3230-38A>G) c.2897-38A>G (n.2897-38A>G) | gnomAD v4 |
| 7 | g.117611543A>T | CA4451394 | CFTR | c.3140-38A>T (n.3140-38A>T) c.*2854-38A>T (n.*2854-38A>T) c.2957-38A>T (n.2957-38A>T) c.*1440-38A>T (n.*1440-38A>T) c.*2964-38A>T (n.*2964-38A>T) c.2714-38A>T (n.2714-38A>T) c.731-38A>T (n.731-38A>T) c.790-38A>T c.1922-38A>T (n.1922-38A>T) c.3050-38A>T (n.3050-38A>T) c.3230-38A>T (n.3230-38A>T) c.2897-38A>T (n.2897-38A>T) | dbSNP ExAC gnomAD v2 |
| 7 | g.117611544T>C | CA4451395 | CFTR | c.3140-37T>C (n.3140-37T>C) c.*2854-37T>C (n.*2854-37T>C) c.2957-37T>C (n.2957-37T>C) c.*1440-37T>C (n.*1440-37T>C) c.*2964-37T>C (n.*2964-37T>C) c.2714-37T>C (n.2714-37T>C) c.731-37T>C (n.731-37T>C) c.790-37T>C c.1922-37T>C (n.1922-37T>C) c.3050-37T>C (n.3050-37T>C) c.3230-37T>C (n.3230-37T>C) c.2897-37T>C (n.2897-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611544T= | CA1737386566 | CFTR | c.3140-37T= (n.3140-37T=) c.*2854-37T= (n.*2854-37T=) c.2957-37T= (n.2957-37T=) c.*1440-37T= (n.*1440-37T=) c.*2964-37T= (n.*2964-37T=) c.2714-37T= (n.2714-37T=) c.731-37T= (n.731-37T=) c.790-37T= c.1922-37T= (n.1922-37T=) c.3050-37T= (n.3050-37T=) c.3230-37T= (n.3230-37T=) c.2897-37T= (n.2897-37T=) | |
| 7 | g.117611548A= | CA1737386573 | CFTR | c.3140-33A= (n.3140-33A=) c.*2854-33A= (n.*2854-33A=) c.2957-33A= (n.2957-33A=) c.*1440-33A= (n.*1440-33A=) c.*2964-33A= (n.*2964-33A=) c.2714-33A= (n.2714-33A=) c.731-33A= (n.731-33A=) c.790-33A= c.1922-33A= (n.1922-33A=) c.3050-33A= (n.3050-33A=) c.3230-33A= (n.3230-33A=) c.2897-33A= (n.2897-33A=) | |
| 7 | g.117611548A>C | CA1737386580 | CFTR | c.3140-33A>C (n.3140-33A>C) c.*2854-33A>C (n.*2854-33A>C) c.2957-33A>C (n.2957-33A>C) c.*1440-33A>C (n.*1440-33A>C) c.*2964-33A>C (n.*2964-33A>C) c.2714-33A>C (n.2714-33A>C) c.731-33A>C (n.731-33A>C) c.790-33A>C c.1922-33A>C (n.1922-33A>C) c.3050-33A>C (n.3050-33A>C) c.3230-33A>C (n.3230-33A>C) c.2897-33A>C (n.2897-33A>C) | dbSNP |
| 7 | g.117611548A>G | CA4451397 | CFTR | c.3140-33A>G (n.3140-33A>G) c.*2854-33A>G (n.*2854-33A>G) c.2957-33A>G (n.2957-33A>G) c.*1440-33A>G (n.*1440-33A>G) c.*2964-33A>G (n.*2964-33A>G) c.2714-33A>G (n.2714-33A>G) c.731-33A>G (n.731-33A>G) c.790-33A>G c.1922-33A>G (n.1922-33A>G) c.3050-33A>G (n.3050-33A>G) c.3230-33A>G (n.3230-33A>G) c.2897-33A>G (n.2897-33A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611548A>T | CA4451396 | CFTR | c.3140-33A>T (n.3140-33A>T) c.*2854-33A>T (n.*2854-33A>T) c.2957-33A>T (n.2957-33A>T) c.*1440-33A>T (n.*1440-33A>T) c.*2964-33A>T (n.*2964-33A>T) c.2714-33A>T (n.2714-33A>T) c.731-33A>T (n.731-33A>T) c.790-33A>T c.1922-33A>T (n.1922-33A>T) c.3050-33A>T (n.3050-33A>T) c.3230-33A>T (n.3230-33A>T) c.2897-33A>T (n.2897-33A>T) | dbSNP ExAC gnomAD v2 |
| 7 | g.117611549T>C | CA4451398 | CFTR | c.3140-32T>C (n.3140-32T>C) c.*2854-32T>C (n.*2854-32T>C) c.2957-32T>C (n.2957-32T>C) c.*1440-32T>C (n.*1440-32T>C) c.*2964-32T>C (n.*2964-32T>C) c.2714-32T>C (n.2714-32T>C) c.731-32T>C (n.731-32T>C) c.790-32T>C c.1922-32T>C (n.1922-32T>C) c.3050-32T>C (n.3050-32T>C) c.3230-32T>C (n.3230-32T>C) c.2897-32T>C (n.2897-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611549T= | CA1737386584 | CFTR | c.3140-32T= (n.3140-32T=) c.*2854-32T= (n.*2854-32T=) c.2957-32T= (n.2957-32T=) c.*1440-32T= (n.*1440-32T=) c.*2964-32T= (n.*2964-32T=) c.2714-32T= (n.2714-32T=) c.731-32T= (n.731-32T=) c.790-32T= c.1922-32T= (n.1922-32T=) c.3050-32T= (n.3050-32T=) c.3230-32T= (n.3230-32T=) c.2897-32T= (n.2897-32T=) | |
| 7 | g.117611552G>A | CA164966233 | CFTR | c.3140-29G>A (n.3140-29G>A) c.*2854-29G>A (n.*2854-29G>A) c.2957-29G>A (n.2957-29G>A) c.*1440-29G>A (n.*1440-29G>A) c.*2964-29G>A (n.*2964-29G>A) c.2714-29G>A (n.2714-29G>A) c.731-29G>A (n.731-29G>A) c.790-29G>A c.1922-29G>A (n.1922-29G>A) c.3050-29G>A (n.3050-29G>A) c.3230-29G>A (n.3230-29G>A) c.2897-29G>A (n.2897-29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611552G>C | CA2684588433 | CFTR | c.3140-29G>C (n.3140-29G>C) c.*2854-29G>C (n.*2854-29G>C) c.2957-29G>C (n.2957-29G>C) c.*1440-29G>C (n.*1440-29G>C) c.*2964-29G>C (n.*2964-29G>C) c.2714-29G>C (n.2714-29G>C) c.731-29G>C (n.731-29G>C) c.790-29G>C c.1922-29G>C (n.1922-29G>C) c.3050-29G>C (n.3050-29G>C) c.3230-29G>C (n.3230-29G>C) c.2897-29G>C (n.2897-29G>C) | gnomAD v4 |
| 7 | g.117611552G= | CA1737386589 | CFTR | c.3140-29G= (n.3140-29G=) c.*2854-29G= (n.*2854-29G=) c.2957-29G= (n.2957-29G=) c.*1440-29G= (n.*1440-29G=) c.*2964-29G= (n.*2964-29G=) c.2714-29G= (n.2714-29G=) c.731-29G= (n.731-29G=) c.790-29G= c.1922-29G= (n.1922-29G=) c.3050-29G= (n.3050-29G=) c.3230-29G= (n.3230-29G=) c.2897-29G= (n.2897-29G=) | |
| 7 | g.117611552G>T | CA577680845 | CFTR | c.3140-29G>T (n.3140-29G>T) c.*2854-29G>T (n.*2854-29G>T) c.2957-29G>T (n.2957-29G>T) c.*1440-29G>T (n.*1440-29G>T) c.*2964-29G>T (n.*2964-29G>T) c.2714-29G>T (n.2714-29G>T) c.731-29G>T (n.731-29G>T) c.790-29G>T c.1922-29G>T (n.1922-29G>T) c.3050-29G>T (n.3050-29G>T) c.3230-29G>T (n.3230-29G>T) c.2897-29G>T (n.2897-29G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611553C>A | CA832118719 | CFTR | c.3140-28C>A (n.3140-28C>A) c.*2854-28C>A (n.*2854-28C>A) c.2957-28C>A (n.2957-28C>A) c.*1440-28C>A (n.*1440-28C>A) c.*2964-28C>A (n.*2964-28C>A) c.2714-28C>A (n.2714-28C>A) c.731-28C>A (n.731-28C>A) c.790-28C>A c.1922-28C>A (n.1922-28C>A) c.3050-28C>A (n.3050-28C>A) c.3230-28C>A (n.3230-28C>A) c.2897-28C>A (n.2897-28C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611553C= | CA1737386593 | CFTR | c.3140-28C= (n.3140-28C=) c.*2854-28C= (n.*2854-28C=) c.2957-28C= (n.2957-28C=) c.*1440-28C= (n.*1440-28C=) c.*2964-28C= (n.*2964-28C=) c.2714-28C= (n.2714-28C=) c.731-28C= (n.731-28C=) c.790-28C= c.1922-28C= (n.1922-28C=) c.3050-28C= (n.3050-28C=) c.3230-28C= (n.3230-28C=) c.2897-28C= (n.2897-28C=) | |
| 7 | g.117611554A>G | CA2684588434 | CFTR | c.3140-27A>G (n.3140-27A>G) c.*2854-27A>G (n.*2854-27A>G) c.2957-27A>G (n.2957-27A>G) c.*1440-27A>G (n.*1440-27A>G) c.*2964-27A>G (n.*2964-27A>G) c.2714-27A>G (n.2714-27A>G) c.731-27A>G (n.731-27A>G) c.790-27A>G c.1922-27A>G (n.1922-27A>G) c.3050-27A>G (n.3050-27A>G) c.3230-27A>G (n.3230-27A>G) c.2897-27A>G (n.2897-27A>G) | gnomAD v4 |
| 7 | g.117611555A= | CA1737386600 | CFTR | c.3140-26A= (n.3140-26A=) c.*2854-26A= (n.*2854-26A=) c.2957-26A= (n.2957-26A=) c.*1440-26A= (n.*1440-26A=) c.*2964-26A= (n.*2964-26A=) c.2714-26A= (n.2714-26A=) c.731-26A= (n.731-26A=) c.790-26A= c.1922-26A= (n.1922-26A=) c.3050-26A= (n.3050-26A=) c.3230-26A= (n.3230-26A=) c.2897-26A= (n.2897-26A=) | |
| 7 | g.117611555A>C | CA1737386604 | CFTR | c.3140-26A>C (n.3140-26A>C) c.*2854-26A>C (n.*2854-26A>C) c.2957-26A>C (n.2957-26A>C) c.*1440-26A>C (n.*1440-26A>C) c.*2964-26A>C (n.*2964-26A>C) c.2714-26A>C (n.2714-26A>C) c.731-26A>C (n.731-26A>C) c.790-26A>C c.1922-26A>C (n.1922-26A>C) c.3050-26A>C (n.3050-26A>C) c.3230-26A>C (n.3230-26A>C) c.2897-26A>C (n.2897-26A>C) | dbSNP |
| 7 | g.117611555A>G | CA342838 | CFTR | c.3140-26A>G (n.3140-26A>G) c.*2854-26A>G (n.*2854-26A>G) c.2957-26A>G (n.2957-26A>G) c.*1440-26A>G (n.*1440-26A>G) c.*2964-26A>G (n.*2964-26A>G) c.2714-26A>G (n.2714-26A>G) c.731-26A>G (n.731-26A>G) c.790-26A>G c.1922-26A>G (n.1922-26A>G) c.3050-26A>G (n.3050-26A>G) c.3230-26A>G (n.3230-26A>G) c.2897-26A>G (n.2897-26A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611555A>T | CA2580595310 | CFTR | c.3140-26A>T (n.3140-26A>T) c.*2854-26A>T (n.*2854-26A>T) c.2957-26A>T (n.2957-26A>T) c.*1440-26A>T (n.*1440-26A>T) c.*2964-26A>T (n.*2964-26A>T) c.2714-26A>T (n.2714-26A>T) c.731-26A>T (n.731-26A>T) c.790-26A>T c.1922-26A>T (n.1922-26A>T) c.3050-26A>T (n.3050-26A>T) c.3230-26A>T (n.3230-26A>T) c.2897-26A>T (n.2897-26A>T) | |
| 7 | g.117611557G>A | CA4451399 | CFTR | c.3140-24G>A (n.3140-24G>A) c.*2854-24G>A (n.*2854-24G>A) c.2957-24G>A (n.2957-24G>A) c.*1440-24G>A (n.*1440-24G>A) c.*2964-24G>A (n.*2964-24G>A) c.2714-24G>A (n.2714-24G>A) c.731-24G>A (n.731-24G>A) c.790-24G>A c.1922-24G>A (n.1922-24G>A) c.3050-24G>A (n.3050-24G>A) c.3230-24G>A (n.3230-24G>A) c.2897-24G>A (n.2897-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611557G= | CA1737386613 | CFTR | c.3140-24G= (n.3140-24G=) c.*2854-24G= (n.*2854-24G=) c.2957-24G= (n.2957-24G=) c.*1440-24G= (n.*1440-24G=) c.*2964-24G= (n.*2964-24G=) c.2714-24G= (n.2714-24G=) c.731-24G= (n.731-24G=) c.790-24G= c.1922-24G= (n.1922-24G=) c.3050-24G= (n.3050-24G=) c.3230-24G= (n.3230-24G=) c.2897-24G= (n.2897-24G=) | |
| 7 | g.117611561T>C | CA4451400 | CFTR | c.3140-20T>C (n.3140-20T>C) c.*2854-20T>C (n.*2854-20T>C) c.2957-20T>C (n.2957-20T>C) c.*1440-20T>C (n.*1440-20T>C) c.*2964-20T>C (n.*2964-20T>C) c.2714-20T>C (n.2714-20T>C) c.731-20T>C (n.731-20T>C) c.790-20T>C c.1922-20T>C (n.1922-20T>C) c.3050-20T>C (n.3050-20T>C) c.3230-20T>C (n.3230-20T>C) c.2897-20T>C (n.2897-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611561T= | CA1737386620 | CFTR | c.3140-20T= (n.3140-20T=) c.*2854-20T= (n.*2854-20T=) c.2957-20T= (n.2957-20T=) c.*1440-20T= (n.*1440-20T=) c.*2964-20T= (n.*2964-20T=) c.2714-20T= (n.2714-20T=) c.731-20T= (n.731-20T=) c.790-20T= c.1922-20T= (n.1922-20T=) c.3050-20T= (n.3050-20T=) c.3230-20T= (n.3230-20T=) c.2897-20T= (n.2897-20T=) | |
| 7 | g.117611562C>A | CA2684588435 | CFTR | c.3140-19C>A (n.3140-19C>A) c.*2854-19C>A (n.*2854-19C>A) c.2957-19C>A (n.2957-19C>A) c.*1440-19C>A (n.*1440-19C>A) c.*2964-19C>A (n.*2964-19C>A) c.2714-19C>A (n.2714-19C>A) c.731-19C>A (n.731-19C>A) c.790-19C>A c.1922-19C>A (n.1922-19C>A) c.3050-19C>A (n.3050-19C>A) c.3230-19C>A (n.3230-19C>A) c.2897-19C>A (n.2897-19C>A) | gnomAD v4 |
| 7 | g.117611563T>C | CA2684588436 | CFTR | c.3140-18T>C (n.3140-18T>C) c.*2854-18T>C (n.*2854-18T>C) c.2957-18T>C (n.2957-18T>C) c.*1440-18T>C (n.*1440-18T>C) c.*2964-18T>C (n.*2964-18T>C) c.2714-18T>C (n.2714-18T>C) c.731-18T>C (n.731-18T>C) c.790-18T>C c.1922-18T>C (n.1922-18T>C) c.3050-18T>C (n.3050-18T>C) c.3230-18T>C (n.3230-18T>C) c.2897-18T>C (n.2897-18T>C) | gnomAD v4 |
| 7 | g.117611564A= | CA1737386623 | CFTR | c.3140-17A= (n.3140-17A=) c.*2854-17A= (n.*2854-17A=) c.2957-17A= (n.2957-17A=) c.*1440-17A= (n.*1440-17A=) c.*2964-17A= (n.*2964-17A=) c.2714-17A= (n.2714-17A=) c.731-17A= (n.731-17A=) c.790-17A= c.1922-17A= (n.1922-17A=) c.3050-17A= (n.3050-17A=) c.3230-17A= (n.3230-17A=) c.2897-17A= (n.2897-17A=) | |
| 7 | g.117611564A>G | CA658683498 | CFTR | c.3140-17A>G (n.3140-17A>G) c.*2854-17A>G (n.*2854-17A>G) c.2957-17A>G (n.2957-17A>G) c.*1440-17A>G (n.*1440-17A>G) c.*2964-17A>G (n.*2964-17A>G) c.2714-17A>G (n.2714-17A>G) c.731-17A>G (n.731-17A>G) c.790-17A>G c.1922-17A>G (n.1922-17A>G) c.3050-17A>G (n.3050-17A>G) c.3230-17A>G (n.3230-17A>G) c.2897-17A>G (n.2897-17A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611565T>A | CA4451401 | CFTR | c.3140-16T>A (n.3140-16T>A) c.*2854-16T>A (n.*2854-16T>A) c.2957-16T>A (n.2957-16T>A) c.*1440-16T>A (n.*1440-16T>A) c.*2964-16T>A (n.*2964-16T>A) c.2714-16T>A (n.2714-16T>A) c.731-16T>A (n.731-16T>A) c.790-16T>A c.1922-16T>A (n.1922-16T>A) c.3050-16T>A (n.3050-16T>A) c.3230-16T>A (n.3230-16T>A) c.2897-16T>A (n.2897-16T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611565T>C | CA2684588437 | CFTR | c.3140-16T>C (n.3140-16T>C) c.*2854-16T>C (n.*2854-16T>C) c.2957-16T>C (n.2957-16T>C) c.*1440-16T>C (n.*1440-16T>C) c.*2964-16T>C (n.*2964-16T>C) c.2714-16T>C (n.2714-16T>C) c.731-16T>C (n.731-16T>C) c.790-16T>C c.1922-16T>C (n.1922-16T>C) c.3050-16T>C (n.3050-16T>C) c.3230-16T>C (n.3230-16T>C) c.2897-16T>C (n.2897-16T>C) | ClinVar gnomAD v4 |
| 7 | g.117611565T= | CA1737386625 | CFTR | c.3140-16T= (n.3140-16T=) c.*2854-16T= (n.*2854-16T=) c.2957-16T= (n.2957-16T=) c.*1440-16T= (n.*1440-16T=) c.*2964-16T= (n.*2964-16T=) c.2714-16T= (n.2714-16T=) c.731-16T= (n.731-16T=) c.790-16T= c.1922-16T= (n.1922-16T=) c.3050-16T= (n.3050-16T=) c.3230-16T= (n.3230-16T=) c.2897-16T= (n.2897-16T=) | |
| 7 | g.117611567G>A | CA2684588438 | CFTR | c.3140-14G>A (n.3140-14G>A) c.*2854-14G>A (n.*2854-14G>A) c.2957-14G>A (n.2957-14G>A) c.*1440-14G>A (n.*1440-14G>A) c.*2964-14G>A (n.*2964-14G>A) c.2714-14G>A (n.2714-14G>A) c.731-14G>A (n.731-14G>A) c.790-14G>A c.1922-14G>A (n.1922-14G>A) c.3050-14G>A (n.3050-14G>A) c.3230-14G>A (n.3230-14G>A) c.2897-14G>A (n.2897-14G>A) | gnomAD v4 |
| 7 | g.117611567G>T | CA2579000251 | CFTR | c.3140-14G>T (n.3140-14G>T) c.*2854-14G>T (n.*2854-14G>T) c.2957-14G>T (n.2957-14G>T) c.*1440-14G>T (n.*1440-14G>T) c.*2964-14G>T (n.*2964-14G>T) c.2714-14G>T (n.2714-14G>T) c.731-14G>T (n.731-14G>T) c.790-14G>T c.1922-14G>T (n.1922-14G>T) c.3050-14G>T (n.3050-14G>T) c.3230-14G>T (n.3230-14G>T) c.2897-14G>T (n.2897-14G>T) | gnomAD v4 |
| 7 | g.117611568A>G | CA2684588439 | CFTR | c.3140-13A>G (n.3140-13A>G) c.*2854-13A>G (n.*2854-13A>G) c.2957-13A>G (n.2957-13A>G) c.*1440-13A>G (n.*1440-13A>G) c.*2964-13A>G (n.*2964-13A>G) c.2714-13A>G (n.2714-13A>G) c.731-13A>G (n.731-13A>G) c.790-13A>G c.1922-13A>G (n.1922-13A>G) c.3050-13A>G (n.3050-13A>G) c.3230-13A>G (n.3230-13A>G) c.2897-13A>G (n.2897-13A>G) | gnomAD v4 |
| 7 | g.117611569A>G | CA2684588440 | CFTR | c.3140-12A>G (n.3140-12A>G) c.*2854-12A>G (n.*2854-12A>G) c.2957-12A>G (n.2957-12A>G) c.*1440-12A>G (n.*1440-12A>G) c.*2964-12A>G (n.*2964-12A>G) c.2714-12A>G (n.2714-12A>G) c.731-12A>G (n.731-12A>G) c.790-12A>G c.1922-12A>G (n.1922-12A>G) c.3050-12A>G (n.3050-12A>G) c.3230-12A>G (n.3230-12A>G) c.2897-12A>G (n.2897-12A>G) | gnomAD v4 |
| 7 | g.117611570A= | CA1737386629 | CFTR | c.3140-11A= (n.3140-11A=) c.*2854-11A= (n.*2854-11A=) c.2957-11A= (n.2957-11A=) c.*1440-11A= (n.*1440-11A=) c.*2964-11A= (n.*2964-11A=) c.2714-11A= (n.2714-11A=) c.731-11A= (n.731-11A=) c.790-11A= c.1922-11A= (n.1922-11A=) c.3050-11A= (n.3050-11A=) c.3230-11A= (n.3230-11A=) c.2897-11A= (n.2897-11A=) | |
| 7 | g.117611570A>G | CA577680846 | CFTR | c.3140-11A>G (n.3140-11A>G) c.*2854-11A>G (n.*2854-11A>G) c.2957-11A>G (n.2957-11A>G) c.*1440-11A>G (n.*1440-11A>G) c.*2964-11A>G (n.*2964-11A>G) c.2714-11A>G (n.2714-11A>G) c.731-11A>G (n.731-11A>G) c.790-11A>G c.1922-11A>G (n.1922-11A>G) c.3050-11A>G (n.3050-11A>G) c.3230-11A>G (n.3230-11A>G) c.2897-11A>G (n.2897-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611572A= | CA1737386631 | CFTR | c.3140-9A= (n.3140-9A=) c.*2854-9A= (n.*2854-9A=) c.2957-9A= (n.2957-9A=) c.*1440-9A= (n.*1440-9A=) c.*2964-9A= (n.*2964-9A=) c.2714-9A= (n.2714-9A=) c.731-9A= (n.731-9A=) c.790-9A= c.1922-9A= (n.1922-9A=) c.3050-9A= (n.3050-9A=) c.3230-9A= (n.3230-9A=) c.2897-9A= (n.2897-9A=) | |
| 7 | g.117611572A>G | CA1106311788 | CFTR | c.3140-9A>G (n.3140-9A>G) c.*2854-9A>G (n.*2854-9A>G) c.2957-9A>G (n.2957-9A>G) c.*1440-9A>G (n.*1440-9A>G) c.*2964-9A>G (n.*2964-9A>G) c.2714-9A>G (n.2714-9A>G) c.731-9A>G (n.731-9A>G) c.790-9A>G c.1922-9A>G (n.1922-9A>G) c.3050-9A>G (n.3050-9A>G) c.3230-9A>G (n.3230-9A>G) c.2897-9A>G (n.2897-9A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611572A>T | CA2695208432 | CFTR | c.3140-9A>T (n.3140-9A>T) c.*2854-9A>T (n.*2854-9A>T) c.2957-9A>T (n.2957-9A>T) c.*1440-9A>T (n.*1440-9A>T) c.*2964-9A>T (n.*2964-9A>T) c.2714-9A>T (n.2714-9A>T) c.731-9A>T (n.731-9A>T) c.790-9A>T c.1922-9A>T (n.1922-9A>T) c.3050-9A>T (n.3050-9A>T) c.3230-9A>T (n.3230-9A>T) c.2897-9A>T (n.2897-9A>T) | |
| 7 | g.117611575T>C | CA2684588441 | CFTR | c.3140-6T>C (n.3140-6T>C) c.*2854-6T>C (n.*2854-6T>C) c.2957-6T>C (n.2957-6T>C) c.*1440-6T>C (n.*1440-6T>C) c.*2964-6T>C (n.*2964-6T>C) c.2714-6T>C (n.2714-6T>C) c.731-6T>C (n.731-6T>C) c.790-6T>C c.1922-6T>C (n.1922-6T>C) c.3050-6T>C (n.3050-6T>C) c.3230-6T>C (n.3230-6T>C) c.2897-6T>C (n.2897-6T>C) | gnomAD v4 |
| 7 | g.117611576C>A | CA2684588442 | CFTR | c.3140-5C>A (n.3140-5C>A) c.*2854-5C>A (n.*2854-5C>A) c.2957-5C>A (n.2957-5C>A) c.*1440-5C>A (n.*1440-5C>A) c.*2964-5C>A (n.*2964-5C>A) c.2714-5C>A (n.2714-5C>A) c.731-5C>A (n.731-5C>A) c.790-5C>A c.1922-5C>A (n.1922-5C>A) c.3050-5C>A (n.3050-5C>A) c.3230-5C>A (n.3230-5C>A) c.2897-5C>A (n.2897-5C>A) | gnomAD v4 |
| 7 | g.117611576C>T | CA2684588443 | CFTR | c.3140-5C>T (n.3140-5C>T) c.*2854-5C>T (n.*2854-5C>T) c.2957-5C>T (n.2957-5C>T) c.*1440-5C>T (n.*1440-5C>T) c.*2964-5C>T (n.*2964-5C>T) c.2714-5C>T (n.2714-5C>T) c.731-5C>T (n.731-5C>T) c.790-5C>T c.1922-5C>T (n.1922-5C>T) c.3050-5C>T (n.3050-5C>T) c.3230-5C>T (n.3230-5C>T) c.2897-5C>T (n.2897-5C>T) | gnomAD v4 |
| 7 | g.117611577A= | CA1737386641 | CFTR | c.3140-4A= (n.3140-4A=) c.*2854-4A= (n.*2854-4A=) c.2957-4A= (n.2957-4A=) c.*1440-4A= (n.*1440-4A=) c.*2964-4A= (n.*2964-4A=) c.2714-4A= (n.2714-4A=) c.731-4A= (n.731-4A=) c.790-4A= c.1922-4A= (n.1922-4A=) c.3050-4A= (n.3050-4A=) c.3230-4A= (n.3230-4A=) c.2897-4A= (n.2897-4A=) | |
| 7 | g.117611577A>G | CA327061 | CFTR | c.3140-4A>G (n.3140-4A>G) c.*2854-4A>G (n.*2854-4A>G) c.2957-4A>G (n.2957-4A>G) c.*1440-4A>G (n.*1440-4A>G) c.*2964-4A>G (n.*2964-4A>G) c.2714-4A>G (n.2714-4A>G) c.731-4A>G (n.731-4A>G) c.790-4A>G c.1922-4A>G (n.1922-4A>G) c.3050-4A>G (n.3050-4A>G) c.3230-4A>G (n.3230-4A>G) c.2897-4A>G (n.2897-4A>G) | ClinVar dbSNP |
| 7 | g.117611577A>T | CA164966256 | CFTR | c.3140-4A>T (n.3140-4A>T) c.*2854-4A>T (n.*2854-4A>T) c.2957-4A>T (n.2957-4A>T) c.*1440-4A>T (n.*1440-4A>T) c.*2964-4A>T (n.*2964-4A>T) c.2714-4A>T (n.2714-4A>T) c.731-4A>T (n.731-4A>T) c.790-4A>T c.1922-4A>T (n.1922-4A>T) c.3050-4A>T (n.3050-4A>T) c.3230-4A>T (n.3230-4A>T) c.2897-4A>T (n.2897-4A>T) | dbSNP gnomAD v4 |
| 7 | g.117611578C>A | CA2579000252 | CFTR | c.3140-3C>A (n.3140-3C>A) c.*2854-3C>A (n.*2854-3C>A) c.2957-3C>A (n.2957-3C>A) c.*1440-3C>A (n.*1440-3C>A) c.*2964-3C>A (n.*2964-3C>A) c.2714-3C>A (n.2714-3C>A) c.731-3C>A (n.731-3C>A) c.790-3C>A c.1922-3C>A (n.1922-3C>A) c.3050-3C>A (n.3050-3C>A) c.3230-3C>A (n.3230-3C>A) c.2897-3C>A (n.2897-3C>A) | gnomAD v4 |
| 7 | g.117611578C= | CA1737386644 | CFTR | c.3140-3C= (n.3140-3C=) c.*2854-3C= (n.*2854-3C=) c.2957-3C= (n.2957-3C=) c.*1440-3C= (n.*1440-3C=) c.*2964-3C= (n.*2964-3C=) c.2714-3C= (n.2714-3C=) c.731-3C= (n.731-3C=) c.790-3C= c.1922-3C= (n.1922-3C=) c.3050-3C= (n.3050-3C=) c.3230-3C= (n.3230-3C=) c.2897-3C= (n.2897-3C=) | |
| 7 | g.117611578C>T | CA164966258 | CFTR | c.3140-3C>T (n.3140-3C>T) c.*2854-3C>T (n.*2854-3C>T) c.2957-3C>T (n.2957-3C>T) c.*1440-3C>T (n.*1440-3C>T) c.*2964-3C>T (n.*2964-3C>T) c.2714-3C>T (n.2714-3C>T) c.731-3C>T (n.731-3C>T) c.790-3C>T c.1922-3C>T (n.1922-3C>T) c.3050-3C>T (n.3050-3C>T) c.3230-3C>T (n.3230-3C>T) c.2897-3C>T (n.2897-3C>T) | dbSNP gnomAD v4 |
| 7 | g.117611579A>C | CA368991685 | CFTR | c.3140-2A>C (n.3140-2A>C) c.*2854-2A>C (n.*2854-2A>C) c.2957-2A>C (n.2957-2A>C) c.*1440-2A>C (n.*1440-2A>C) c.*2964-2A>C (n.*2964-2A>C) c.2714-2A>C (n.2714-2A>C) c.731-2A>C (n.731-2A>C) c.790-2A>C c.1922-2A>C (n.1922-2A>C) c.3050-2A>C (n.3050-2A>C) c.3230-2A>C (n.3230-2A>C) c.2897-2A>C (n.2897-2A>C) | |
| 7 | g.117611579A>G | CA368991687 | CFTR | c.3140-2A>G (n.3140-2A>G) c.*2854-2A>G (n.*2854-2A>G) c.2957-2A>G (n.2957-2A>G) c.*1440-2A>G (n.*1440-2A>G) c.*2964-2A>G (n.*2964-2A>G) c.2714-2A>G (n.2714-2A>G) c.731-2A>G (n.731-2A>G) c.790-2A>G c.1922-2A>G (n.1922-2A>G) c.3050-2A>G (n.3050-2A>G) c.3230-2A>G (n.3230-2A>G) c.2897-2A>G (n.2897-2A>G) | gnomAD v4 |
| 7 | g.117611579A>T | CA368991682 | CFTR | c.3140-2A>T (n.3140-2A>T) c.*2854-2A>T (n.*2854-2A>T) c.2957-2A>T (n.2957-2A>T) c.*1440-2A>T (n.*1440-2A>T) c.*2964-2A>T (n.*2964-2A>T) c.2714-2A>T (n.2714-2A>T) c.731-2A>T (n.731-2A>T) c.790-2A>T c.1922-2A>T (n.1922-2A>T) c.3050-2A>T (n.3050-2A>T) c.3230-2A>T (n.3230-2A>T) c.2897-2A>T (n.2897-2A>T) | gnomAD v4 |
| 7 | g.117611580G>A | CA327060 | CFTR | c.3140-1G>A (n.3140-1G>A) c.*2854-1G>A (n.*2854-1G>A) c.2957-1G>A (n.2957-1G>A) c.*1440-1G>A (n.*1440-1G>A) c.*2964-1G>A (n.*2964-1G>A) c.2714-1G>A (n.2714-1G>A) c.731-1G>A (n.731-1G>A) c.790-1G>A c.1922-1G>A (n.1922-1G>A) c.3050-1G>A (n.3050-1G>A) c.3230-1G>A (n.3230-1G>A) c.2897-1G>A (n.2897-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611580G>C | CA368991700 | CFTR | c.3140-1G>C (n.3140-1G>C) c.*2854-1G>C (n.*2854-1G>C) c.2957-1G>C (n.2957-1G>C) c.*1440-1G>C (n.*1440-1G>C) c.*2964-1G>C (n.*2964-1G>C) c.2714-1G>C (n.2714-1G>C) c.731-1G>C (n.731-1G>C) c.790-1G>C c.1922-1G>C (n.1922-1G>C) c.3050-1G>C (n.3050-1G>C) c.3230-1G>C (n.3230-1G>C) c.2897-1G>C (n.2897-1G>C) | |
| 7 | g.117611580G= | CA1737386655 | CFTR | c.3140-1G= (n.3140-1G=) c.*2854-1G= (n.*2854-1G=) c.2957-1G= (n.2957-1G=) c.*1440-1G= (n.*1440-1G=) c.*2964-1G= (n.*2964-1G=) c.2714-1G= (n.2714-1G=) c.731-1G= (n.731-1G=) c.790-1G= c.1922-1G= (n.1922-1G=) c.3050-1G= (n.3050-1G=) c.3230-1G= (n.3230-1G=) c.2897-1G= (n.2897-1G=) | |
| 7 | g.117611580G>T | CA368991703 | CFTR | c.3140-1G>T (n.3140-1G>T) c.*2854-1G>T (n.*2854-1G>T) c.2957-1G>T (n.2957-1G>T) c.*1440-1G>T (n.*1440-1G>T) c.*2964-1G>T (n.*2964-1G>T) c.2714-1G>T (n.2714-1G>T) c.731-1G>T (n.731-1G>T) c.790-1G>T c.1922-1G>T (n.1922-1G>T) c.3050-1G>T (n.3050-1G>T) c.3230-1G>T (n.3230-1G>T) c.2897-1G>T (n.2897-1G>T) | |
| 7 | g.117611582_117614714del | CA913189834 | CFTR | c.3141_3468+1del c.*2855_*3182+1del c.2958_3285+1del c.*1441_*1843+1del c.3141_3462+1del c.*2965_*3292+1del c.2715_3042+1del c.732_1059+1del c.791_1118+1del c.1923_2250+1del c.3051_3378+1del c.3231_3558+1del c.2898_3225+1del | ClinVar |
| 7 | g.117611581G>A | CA327063 | CFTR | c.3140G>A (p.Gly1047Asp) c.*2854G>A (n.*2854G>A) c.2957G>A (p.Gly986Asp) c.*1440G>A (n.*1440G>A) c.*2964G>A (n.*2964G>A) c.2714G>A (p.Gly905Asp) c.731G>A (p.Gly244Asp) c.790G>A c.1922G>A (p.Gly641Asp) c.3050G>A (p.Gly1017Asp) c.3230G>A (p.Gly1077Asp) c.2897G>A (p.Gly966Asp) | dbSNP gnomAD v4 COSMIC |
| 7 | g.117611581G>C | CA368991709 | CFTR | c.3140G>C (p.Gly1047Ala) c.*2854G>C (n.*2854G>C) c.2957G>C (p.Gly986Ala) c.*1440G>C (n.*1440G>C) c.*2964G>C (n.*2964G>C) c.2714G>C (p.Gly905Ala) c.731G>C (p.Gly244Ala) c.790G>C c.1922G>C (p.Gly641Ala) c.3050G>C (p.Gly1017Ala) c.3230G>C (p.Gly1077Ala) c.2897G>C (p.Gly966Ala) | |
| 7 | g.117611581G= | CA1737386662 | CFTR | c.3140G= (p.Gly1047=) c.*2854G= (n.*2854G=) c.2957G= (p.Gly986=) c.*1440G= (n.*1440G=) c.*2964G= (n.*2964G=) c.2714G= (p.Gly905=) c.731G= (p.Gly244=) c.790G= c.1922G= (p.Gly641=) c.3050G= (p.Gly1017=) c.3230G= (p.Gly1077=) c.2897G= (p.Gly966=) | |
| 7 | g.117611581G>T | CA4451402 | CFTR | c.3140G>T (p.Gly1047Val) c.*2854G>T (n.*2854G>T) c.2957G>T (p.Gly986Val) c.*1440G>T (n.*1440G>T) c.*2964G>T (n.*2964G>T) c.2714G>T (p.Gly905Val) c.731G>T (p.Gly244Val) c.790G>T c.1922G>T (p.Gly641Val) c.3050G>T (p.Gly1017Val) c.3230G>T (p.Gly1077Val) c.2897G>T (p.Gly966Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611582C>A | CA457229968 | CFTR | c.3141C>A (p.Gly1047=) c.*2855C>A (n.*2855C>A) c.2958C>A (p.Gly986=) c.*1441C>A (n.*1441C>A) c.*2965C>A (n.*2965C>A) c.2715C>A (p.Gly905=) c.732C>A (p.Gly244=) c.791C>A c.1923C>A (p.Gly641=) c.3051C>A (p.Gly1017=) c.3231C>A (p.Gly1077=) c.2898C>A (p.Gly966=) | dbSNP gnomAD v4 |
| 7 | g.117611582C= | CA1737386667 | CFTR | c.3141C= (p.Gly1047=) c.*2855C= (n.*2855C=) c.2958C= (p.Gly986=) c.*1441C= (n.*1441C=) c.*2965C= (n.*2965C=) c.2715C= (p.Gly905=) c.732C= (p.Gly244=) c.791C= c.1923C= (p.Gly641=) c.3051C= (p.Gly1017=) c.3231C= (p.Gly1077=) c.2898C= (p.Gly966=) | |
| 7 | g.117611582C>G | CA457229969 | CFTR | c.3141C>G (p.Gly1047=) c.*2855C>G (n.*2855C>G) c.2958C>G (p.Gly986=) c.*1441C>G (n.*1441C>G) c.*2965C>G (n.*2965C>G) c.2715C>G (p.Gly905=) c.732C>G (p.Gly244=) c.791C>G c.1923C>G (p.Gly641=) c.3051C>G (p.Gly1017=) c.3231C>G (p.Gly1077=) c.2898C>G (p.Gly966=) | ClinVar gnomAD v4 |
| 7 | g.117611582C>T | CA457229970 | CFTR | c.3141C>T (p.Gly1047=) c.*2855C>T (n.*2855C>T) c.2958C>T (p.Gly986=) c.*1441C>T (n.*1441C>T) c.*2965C>T (n.*2965C>T) c.2715C>T (p.Gly905=) c.732C>T (p.Gly244=) c.791C>T c.1923C>T (p.Gly641=) c.3051C>T (p.Gly1017=) c.3231C>T (p.Gly1077=) c.2898C>T (p.Gly966=) | gnomAD v4 |
| 7 | g.117611583A>C | CA457229971 | CFTR | c.3142A>C (p.Arg1048=) c.*2856A>C (n.*2856A>C) c.2959A>C (p.Arg987=) c.*1442A>C (n.*1442A>C) c.*2966A>C (n.*2966A>C) c.2716A>C (p.Arg906=) c.733A>C (p.Arg245=) c.792A>C c.1924A>C (p.Arg642=) c.3052A>C (p.Arg1018=) c.3232A>C (p.Arg1078=) c.2899A>C (p.Arg967=) | ClinVar |
| 7 | g.117611583A>G | CA368991715 | CFTR | c.3142A>G (p.Arg1048Gly) c.*2856A>G (n.*2856A>G) c.2959A>G (p.Arg987Gly) c.*1442A>G (n.*1442A>G) c.*2966A>G (n.*2966A>G) c.2716A>G (p.Arg906Gly) c.733A>G (p.Arg245Gly) c.792A>G c.1924A>G (p.Arg642Gly) c.3052A>G (p.Arg1018Gly) c.3232A>G (p.Arg1078Gly) c.2899A>G (p.Arg967Gly) | |
| 7 | g.117611583A>T | CA368991718 | CFTR | c.3142A>T (p.Arg1048Trp) c.*2856A>T (n.*2856A>T) c.2959A>T (p.Arg987Trp) c.*1442A>T (n.*1442A>T) c.*2966A>T (n.*2966A>T) c.2716A>T (p.Arg906Trp) c.733A>T (p.Arg245Trp) c.792A>T c.1924A>T (p.Arg642Trp) c.3052A>T (p.Arg1018Trp) c.3232A>T (p.Arg1078Trp) c.2899A>T (p.Arg967Trp) | |
| 7 | g.117611584G>A | CA368991723 | CFTR | c.3143G>A (p.Arg1048Lys) c.*2857G>A (n.*2857G>A) c.2960G>A (p.Arg987Lys) c.*1443G>A (n.*1443G>A) c.*2967G>A (n.*2967G>A) c.2717G>A (p.Arg906Lys) c.734G>A (p.Arg245Lys) c.793G>A c.1925G>A (p.Arg642Lys) c.3053G>A (p.Arg1018Lys) c.3233G>A (p.Arg1078Lys) c.2900G>A (p.Arg967Lys) | gnomAD v4 |
| 7 | g.117611584G>C | CA368991725 | CFTR | c.3143G>C (p.Arg1048Thr) c.*2857G>C (n.*2857G>C) c.2960G>C (p.Arg987Thr) c.*1443G>C (n.*1443G>C) c.*2967G>C (n.*2967G>C) c.2717G>C (p.Arg906Thr) c.734G>C (p.Arg245Thr) c.793G>C c.1925G>C (p.Arg642Thr) c.3053G>C (p.Arg1018Thr) c.3233G>C (p.Arg1078Thr) c.2900G>C (p.Arg967Thr) | |
| 7 | g.117611584G>T | CA368991730 | CFTR | c.3143G>T (p.Arg1048Met) c.*2857G>T (n.*2857G>T) c.2960G>T (p.Arg987Met) c.*1443G>T (n.*1443G>T) c.*2967G>T (n.*2967G>T) c.2717G>T (p.Arg906Met) c.734G>T (p.Arg245Met) c.793G>T c.1925G>T (p.Arg642Met) c.3053G>T (p.Arg1018Met) c.3233G>T (p.Arg1078Met) c.2900G>T (p.Arg967Met) | |
| 7 | g.117611585G>A | CA457229972 | CFTR | c.3144G>A (p.Arg1048=) c.*2858G>A (n.*2858G>A) c.2961G>A (p.Arg987=) c.*1444G>A (n.*1444G>A) c.*2968G>A (n.*2968G>A) c.2718G>A (p.Arg906=) c.735G>A (p.Arg245=) c.794G>A c.1926G>A (p.Arg642=) c.3054G>A (p.Arg1018=) c.3234G>A (p.Arg1078=) c.2901G>A (p.Arg967=) | |
| 7 | g.117611585G>C | CA368991734 | CFTR | c.3144G>C (p.Arg1048Ser) c.*2858G>C (n.*2858G>C) c.2961G>C (p.Arg987Ser) c.*1444G>C (n.*1444G>C) c.*2968G>C (n.*2968G>C) c.2718G>C (p.Arg906Ser) c.735G>C (p.Arg245Ser) c.794G>C c.1926G>C (p.Arg642Ser) c.3054G>C (p.Arg1018Ser) c.3234G>C (p.Arg1078Ser) c.2901G>C (p.Arg967Ser) | |
| 7 | g.117611585G>T | CA368991737 | CFTR | c.3144G>T (p.Arg1048Ser) c.*2858G>T (n.*2858G>T) c.2961G>T (p.Arg987Ser) c.*1444G>T (n.*1444G>T) c.*2968G>T (n.*2968G>T) c.2718G>T (p.Arg906Ser) c.735G>T (p.Arg245Ser) c.794G>T c.1926G>T (p.Arg642Ser) c.3054G>T (p.Arg1018Ser) c.3234G>T (p.Arg1078Ser) c.2901G>T (p.Arg967Ser) | |
| 7 | g.117611586A>C | CA368991741 | CFTR | c.3145A>C (p.Ser1049Arg) c.*2859A>C (n.*2859A>C) c.2962A>C (p.Ser988Arg) c.*1445A>C (n.*1445A>C) c.*2969A>C (n.*2969A>C) c.2719A>C (p.Ser907Arg) c.736A>C (p.Ser246Arg) c.795A>C c.1927A>C (p.Ser643Arg) c.3055A>C (p.Ser1019Arg) c.3235A>C (p.Ser1079Arg) c.2902A>C (p.Ser968Arg) | |
| 7 | g.117611586A>G | CA368991747 | CFTR | c.3145A>G (p.Ser1049Gly) c.*2859A>G (n.*2859A>G) c.2962A>G (p.Ser988Gly) c.*1445A>G (n.*1445A>G) c.*2969A>G (n.*2969A>G) c.2719A>G (p.Ser907Gly) c.736A>G (p.Ser246Gly) c.795A>G c.1927A>G (p.Ser643Gly) c.3055A>G (p.Ser1019Gly) c.3235A>G (p.Ser1079Gly) c.2902A>G (p.Ser968Gly) | gnomAD v4 |
| 7 | g.117611586A>T | CA368991744 | CFTR | c.3145A>T (p.Ser1049Cys) c.*2859A>T (n.*2859A>T) c.2962A>T (p.Ser988Cys) c.*1445A>T (n.*1445A>T) c.*2969A>T (n.*2969A>T) c.2719A>T (p.Ser907Cys) c.736A>T (p.Ser246Cys) c.795A>T c.1927A>T (p.Ser643Cys) c.3055A>T (p.Ser1019Cys) c.3235A>T (p.Ser1079Cys) c.2902A>T (p.Ser968Cys) | |
| 7 | g.117611587G>A | CA368991749 | CFTR | c.3146G>A (p.Ser1049Asn) c.*2860G>A (n.*2860G>A) c.2963G>A (p.Ser988Asn) c.*1446G>A (n.*1446G>A) c.*2970G>A (n.*2970G>A) c.2720G>A (p.Ser907Asn) c.737G>A (p.Ser246Asn) c.796G>A c.1928G>A (p.Ser643Asn) c.3056G>A (p.Ser1019Asn) c.3236G>A (p.Ser1079Asn) c.2903G>A (p.Ser968Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611587G>C | CA368991754 | CFTR | c.3146G>C (p.Ser1049Thr) c.*2860G>C (n.*2860G>C) c.2963G>C (p.Ser988Thr) c.*1446G>C (n.*1446G>C) c.*2970G>C (n.*2970G>C) c.2720G>C (p.Ser907Thr) c.737G>C (p.Ser246Thr) c.796G>C c.1928G>C (p.Ser643Thr) c.3056G>C (p.Ser1019Thr) c.3236G>C (p.Ser1079Thr) c.2903G>C (p.Ser968Thr) | |
| 7 | g.117611587G= | CA1737386671 | CFTR | c.3146G= (p.Ser1049=) c.*2860G= (n.*2860G=) c.2963G= (p.Ser988=) c.*1446G= (n.*1446G=) c.*2970G= (n.*2970G=) c.2720G= (p.Ser907=) c.737G= (p.Ser246=) c.796G= c.1928G= (p.Ser643=) c.3056G= (p.Ser1019=) c.3236G= (p.Ser1079=) c.2903G= (p.Ser968=) | |
| 7 | g.117611587G>T | CA368991751 | CFTR | c.3146G>T (p.Ser1049Ile) c.*2860G>T (n.*2860G>T) c.2963G>T (p.Ser988Ile) c.*1446G>T (n.*1446G>T) c.*2970G>T (n.*2970G>T) c.2720G>T (p.Ser907Ile) c.737G>T (p.Ser246Ile) c.796G>T c.1928G>T (p.Ser643Ile) c.3056G>T (p.Ser1019Ile) c.3236G>T (p.Ser1079Ile) c.2903G>T (p.Ser968Ile) | |
| 7 | g.117611588T>A | CA368991758 | CFTR | c.3147T>A (p.Ser1049Arg) c.*2861T>A (n.*2861T>A) c.2964T>A (p.Ser988Arg) c.*1447T>A (n.*1447T>A) c.*2971T>A (n.*2971T>A) c.2721T>A (p.Ser907Arg) c.738T>A (p.Ser246Arg) c.797T>A c.1929T>A (p.Ser643Arg) c.3057T>A (p.Ser1019Arg) c.3237T>A (p.Ser1079Arg) c.2904T>A (p.Ser968Arg) | |
| 7 | g.117611588T>C | CA457229973 | CFTR | c.3147T>C (p.Ser1049=) c.*2861T>C (n.*2861T>C) c.2964T>C (p.Ser988=) c.*1447T>C (n.*1447T>C) c.*2971T>C (n.*2971T>C) c.2721T>C (p.Ser907=) c.738T>C (p.Ser246=) c.797T>C c.1929T>C (p.Ser643=) c.3057T>C (p.Ser1019=) c.3237T>C (p.Ser1079=) c.2904T>C (p.Ser968=) | gnomAD v4 |
| 7 | g.117611588T>G | CA368991760 | CFTR | c.3147T>G (p.Ser1049Arg) c.*2861T>G (n.*2861T>G) c.2964T>G (p.Ser988Arg) c.*1447T>G (n.*1447T>G) c.*2971T>G (n.*2971T>G) c.2721T>G (p.Ser907Arg) c.738T>G (p.Ser246Arg) c.797T>G c.1929T>G (p.Ser643Arg) c.3057T>G (p.Ser1019Arg) c.3237T>G (p.Ser1079Arg) c.2904T>G (p.Ser968Arg) | dbSNP |
| 7 | g.117611588T= | CA1737386673 | CFTR | c.3147T= (p.Ser1049=) c.*2861T= (n.*2861T=) c.2964T= (p.Ser988=) c.*1447T= (n.*1447T=) c.*2971T= (n.*2971T=) c.2721T= (p.Ser907=) c.738T= (p.Ser246=) c.797T= c.1929T= (p.Ser643=) c.3057T= (p.Ser1019=) c.3237T= (p.Ser1079=) c.2904T= (p.Ser968=) | |
| 7 | g.117611589C>A | CA368991766 | CFTR | c.3148C>A (p.Pro1050Thr) c.*2862C>A (n.*2862C>A) c.2965C>A (p.Pro989Thr) c.*1448C>A (n.*1448C>A) c.*2972C>A (n.*2972C>A) c.2722C>A (p.Pro908Thr) c.739C>A (p.Pro247Thr) c.798C>A c.1930C>A (p.Pro644Thr) c.3058C>A (p.Pro1020Thr) c.3238C>A (p.Pro1080Thr) c.2905C>A (p.Pro969Thr) | ClinVar gnomAD v4 |
| 7 | g.117611589C= | CA1737386677 | CFTR | c.3148C= (p.Pro1050=) c.*2862C= (n.*2862C=) c.2965C= (p.Pro989=) c.*1448C= (n.*1448C=) c.*2972C= (n.*2972C=) c.2722C= (p.Pro908=) c.739C= (p.Pro247=) c.798C= c.1930C= (p.Pro644=) c.3058C= (p.Pro1020=) c.3238C= (p.Pro1080=) c.2905C= (p.Pro969=) | |
| 7 | g.117611589C>G | CA164966275 | CFTR | c.3148C>G (p.Pro1050Ala) c.*2862C>G (n.*2862C>G) c.2965C>G (p.Pro989Ala) c.*1448C>G (n.*1448C>G) c.*2972C>G (n.*2972C>G) c.2722C>G (p.Pro908Ala) c.739C>G (p.Pro247Ala) c.798C>G c.1930C>G (p.Pro644Ala) c.3058C>G (p.Pro1020Ala) c.3238C>G (p.Pro1080Ala) c.2905C>G (p.Pro969Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611589C>T | CA368991770 | CFTR | c.3148C>T (p.Pro1050Ser) c.*2862C>T (n.*2862C>T) c.2965C>T (p.Pro989Ser) c.*1448C>T (n.*1448C>T) c.*2972C>T (n.*2972C>T) c.2722C>T (p.Pro908Ser) c.739C>T (p.Pro247Ser) c.798C>T c.1930C>T (p.Pro644Ser) c.3058C>T (p.Pro1020Ser) c.3238C>T (p.Pro1080Ser) c.2905C>T (p.Pro969Ser) | |
| 7 | g.117611590C>A | CA368991772 | CFTR | c.3149C>A (p.Pro1050Gln) c.*2863C>A (n.*2863C>A) c.2966C>A (p.Pro989Gln) c.*1449C>A (n.*1449C>A) c.*2973C>A (n.*2973C>A) c.2723C>A (p.Pro908Gln) c.740C>A (p.Pro247Gln) c.799C>A c.1931C>A (p.Pro644Gln) c.3059C>A (p.Pro1020Gln) c.3239C>A (p.Pro1080Gln) c.2906C>A (p.Pro969Gln) | |
| 7 | g.117611590C>G | CA368991775 | CFTR | c.3149C>G (p.Pro1050Arg) c.*2863C>G (n.*2863C>G) c.2966C>G (p.Pro989Arg) c.*1449C>G (n.*1449C>G) c.*2973C>G (n.*2973C>G) c.2723C>G (p.Pro908Arg) c.740C>G (p.Pro247Arg) c.799C>G c.1931C>G (p.Pro644Arg) c.3059C>G (p.Pro1020Arg) c.3239C>G (p.Pro1080Arg) c.2906C>G (p.Pro969Arg) | |
| 7 | g.117611590C>T | CA368991778 | CFTR | c.3149C>T (p.Pro1050Leu) c.*2863C>T (n.*2863C>T) c.2966C>T (p.Pro989Leu) c.*1449C>T (n.*1449C>T) c.*2973C>T (n.*2973C>T) c.2723C>T (p.Pro908Leu) c.740C>T (p.Pro247Leu) c.799C>T c.1931C>T (p.Pro644Leu) c.3059C>T (p.Pro1020Leu) c.3239C>T (p.Pro1080Leu) c.2906C>T (p.Pro969Leu) | |
| 7 | g.117611591A>C | CA457229974 | CFTR | c.3150A>C (p.Pro1050=) c.*2864A>C (n.*2864A>C) c.2967A>C (p.Pro989=) c.*1450A>C (n.*1450A>C) c.*2974A>C (n.*2974A>C) c.2724A>C (p.Pro908=) c.741A>C (p.Pro247=) c.800A>C c.1932A>C (p.Pro644=) c.3060A>C (p.Pro1020=) c.3240A>C (p.Pro1080=) c.2907A>C (p.Pro969=) | |
| 7 | g.117611591A>G | CA457229975 | CFTR | c.3150A>G (p.Pro1050=) c.*2864A>G (n.*2864A>G) c.2967A>G (p.Pro989=) c.*1450A>G (n.*1450A>G) c.*2974A>G (n.*2974A>G) c.2724A>G (p.Pro908=) c.741A>G (p.Pro247=) c.800A>G c.1932A>G (p.Pro644=) c.3060A>G (p.Pro1020=) c.3240A>G (p.Pro1080=) c.2907A>G (p.Pro969=) | |
| 7 | g.117611591A>T | CA457229976 | CFTR | c.3150A>T (p.Pro1050=) c.*2864A>T (n.*2864A>T) c.2967A>T (p.Pro989=) c.*1450A>T (n.*1450A>T) c.*2974A>T (n.*2974A>T) c.2724A>T (p.Pro908=) c.741A>T (p.Pro247=) c.800A>T c.1932A>T (p.Pro644=) c.3060A>T (p.Pro1020=) c.3240A>T (p.Pro1080=) c.2907A>T (p.Pro969=) | |
| 7 | g.117611592A= | CA1737386681 | CFTR | c.3151A= (p.Ile1051=) c.*2865A= (n.*2865A=) c.2968A= (p.Ile990=) c.*1451A= (n.*1451A=) c.*2975A= (n.*2975A=) c.2725A= (p.Ile909=) c.742A= (p.Ile248=) c.801A= c.1933A= (p.Ile645=) c.3061A= (p.Ile1021=) c.3241A= (p.Ile1081=) c.2908A= (p.Ile970=) | |
| 7 | g.117611592A>C | CA368991781 | CFTR | c.3151A>C (p.Ile1051Leu) c.*2865A>C (n.*2865A>C) c.2968A>C (p.Ile990Leu) c.*1451A>C (n.*1451A>C) c.*2975A>C (n.*2975A>C) c.2725A>C (p.Ile909Leu) c.742A>C (p.Ile248Leu) c.801A>C c.1933A>C (p.Ile645Leu) c.3061A>C (p.Ile1021Leu) c.3241A>C (p.Ile1081Leu) c.2908A>C (p.Ile970Leu) | |
| 7 | g.117611592A>G | CA4451403 | CFTR | c.3151A>G (p.Ile1051Val) c.*2865A>G (n.*2865A>G) c.2968A>G (p.Ile990Val) c.*1451A>G (n.*1451A>G) c.*2975A>G (n.*2975A>G) c.2725A>G (p.Ile909Val) c.742A>G (p.Ile248Val) c.801A>G c.1933A>G (p.Ile645Val) c.3061A>G (p.Ile1021Val) c.3241A>G (p.Ile1081Val) c.2908A>G (p.Ile970Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611592A>T | CA4451404 | CFTR | c.3151A>T (p.Ile1051Phe) c.*2865A>T (n.*2865A>T) c.2968A>T (p.Ile990Phe) c.*1451A>T (n.*1451A>T) c.*2975A>T (n.*2975A>T) c.2725A>T (p.Ile909Phe) c.742A>T (p.Ile248Phe) c.801A>T c.1933A>T (p.Ile645Phe) c.3061A>T (p.Ile1021Phe) c.3241A>T (p.Ile1081Phe) c.2908A>T (p.Ile970Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611593T>A | CA368991794 | CFTR | c.3152T>A (p.Ile1051Asn) c.*2866T>A (n.*2866T>A) c.2969T>A (p.Ile990Asn) c.*1452T>A (n.*1452T>A) c.*2976T>A (n.*2976T>A) c.2726T>A (p.Ile909Asn) c.743T>A (p.Ile248Asn) c.802T>A c.1934T>A (p.Ile645Asn) c.3062T>A (p.Ile1021Asn) c.3242T>A (p.Ile1081Asn) c.2909T>A (p.Ile970Asn) | |
| 7 | g.117611593T>C | CA368991793 | CFTR | c.3152T>C (p.Ile1051Thr) c.*2866T>C (n.*2866T>C) c.2969T>C (p.Ile990Thr) c.*1452T>C (n.*1452T>C) c.*2976T>C (n.*2976T>C) c.2726T>C (p.Ile909Thr) c.743T>C (p.Ile248Thr) c.802T>C c.1934T>C (p.Ile645Thr) c.3062T>C (p.Ile1021Thr) c.3242T>C (p.Ile1081Thr) c.2909T>C (p.Ile970Thr) | |
| 7 | g.117611593T>G | CA368991788 | CFTR | c.3152T>G (p.Ile1051Ser) c.*2866T>G (n.*2866T>G) c.2969T>G (p.Ile990Ser) c.*1452T>G (n.*1452T>G) c.*2976T>G (n.*2976T>G) c.2726T>G (p.Ile909Ser) c.743T>G (p.Ile248Ser) c.802T>G c.1934T>G (p.Ile645Ser) c.3062T>G (p.Ile1021Ser) c.3242T>G (p.Ile1081Ser) c.2909T>G (p.Ile970Ser) | |
| 7 | g.117611594T>A | CA457229977 | CFTR | c.3153T>A (p.Ile1051=) c.*2867T>A (n.*2867T>A) c.2970T>A (p.Ile990=) c.*1453T>A (n.*1453T>A) c.*2977T>A (n.*2977T>A) c.2727T>A (p.Ile909=) c.744T>A (p.Ile248=) c.803T>A c.1935T>A (p.Ile645=) c.3063T>A (p.Ile1021=) c.3243T>A (p.Ile1081=) c.2910T>A (p.Ile970=) | |
| 7 | g.117611594T>C | CA457229978 | CFTR | c.3153T>C (p.Ile1051=) c.*2867T>C (n.*2867T>C) c.2970T>C (p.Ile990=) c.*1453T>C (n.*1453T>C) c.*2977T>C (n.*2977T>C) c.2727T>C (p.Ile909=) c.744T>C (p.Ile248=) c.803T>C c.1935T>C (p.Ile645=) c.3063T>C (p.Ile1021=) c.3243T>C (p.Ile1081=) c.2910T>C (p.Ile970=) | |
| 7 | g.117611594T>G | CA368991800 | CFTR | c.3153T>G (p.Ile1051Met) c.*2867T>G (n.*2867T>G) c.2970T>G (p.Ile990Met) c.*1453T>G (n.*1453T>G) c.*2977T>G (n.*2977T>G) c.2727T>G (p.Ile909Met) c.744T>G (p.Ile248Met) c.803T>G c.1935T>G (p.Ile645Met) c.3063T>G (p.Ile1021Met) c.3243T>G (p.Ile1081Met) c.2910T>G (p.Ile970Met) | |
| 7 | g.117611595T>A | CA368991804 | CFTR | c.3154T>A (p.Phe1052Ile) c.*2868T>A (n.*2868T>A) c.2971T>A (p.Phe991Ile) c.*1454T>A (n.*1454T>A) c.*2978T>A (n.*2978T>A) c.2728T>A (p.Phe910Ile) c.745T>A (p.Phe249Ile) c.804T>A c.1936T>A (p.Phe646Ile) c.3064T>A (p.Phe1022Ile) c.3244T>A (p.Phe1082Ile) c.2911T>A (p.Phe971Ile) | |
| 7 | g.117611595T>C | CA368991806 | CFTR | c.3154T>C (p.Phe1052Leu) c.*2868T>C (n.*2868T>C) c.2971T>C (p.Phe991Leu) c.*1454T>C (n.*1454T>C) c.*2978T>C (n.*2978T>C) c.2728T>C (p.Phe910Leu) c.745T>C (p.Phe249Leu) c.804T>C c.1936T>C (p.Phe646Leu) c.3064T>C (p.Phe1022Leu) c.3244T>C (p.Phe1082Leu) c.2911T>C (p.Phe971Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611595T>G | CA327067 | CFTR | c.3154T>G (p.Phe1052Val) c.*2868T>G (n.*2868T>G) c.2971T>G (p.Phe991Val) c.*1454T>G (n.*1454T>G) c.*2978T>G (n.*2978T>G) c.2728T>G (p.Phe910Val) c.745T>G (p.Phe249Val) c.804T>G c.1936T>G (p.Phe646Val) c.3064T>G (p.Phe1022Val) c.3244T>G (p.Phe1082Val) c.2911T>G (p.Phe971Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611595T= | CA1737386693 | CFTR | c.3154T= (p.Phe1052=) c.*2868T= (n.*2868T=) c.2971T= (p.Phe991=) c.*1454T= (n.*1454T=) c.*2978T= (n.*2978T=) c.2728T= (p.Phe910=) c.745T= (p.Phe249=) c.804T= c.1936T= (p.Phe646=) c.3064T= (p.Phe1022=) c.3244T= (p.Phe1082=) c.2911T= (p.Phe971=) | |
| 7 | g.117611596T>A | CA368991814 | CFTR | c.3155T>A (p.Phe1052Tyr) c.*2869T>A (n.*2869T>A) c.2972T>A (p.Phe991Tyr) c.*1455T>A (n.*1455T>A) c.*2979T>A (n.*2979T>A) c.2729T>A (p.Phe910Tyr) c.746T>A (p.Phe249Tyr) c.805T>A c.1937T>A (p.Phe646Tyr) c.3065T>A (p.Phe1022Tyr) c.3245T>A (p.Phe1082Tyr) c.2912T>A (p.Phe971Tyr) | |
| 7 | g.117611596T>C | CA368991817 | CFTR | c.3155T>C (p.Phe1052Ser) c.*2869T>C (n.*2869T>C) c.2972T>C (p.Phe991Ser) c.*1455T>C (n.*1455T>C) c.*2979T>C (n.*2979T>C) c.2729T>C (p.Phe910Ser) c.746T>C (p.Phe249Ser) c.805T>C c.1937T>C (p.Phe646Ser) c.3065T>C (p.Phe1022Ser) c.3245T>C (p.Phe1082Ser) c.2912T>C (p.Phe971Ser) | |
| 7 | g.117611596T>G | CA368991820 | CFTR | c.3155T>G (p.Phe1052Cys) c.*2869T>G (n.*2869T>G) c.2972T>G (p.Phe991Cys) c.*1455T>G (n.*1455T>G) c.*2979T>G (n.*2979T>G) c.2729T>G (p.Phe910Cys) c.746T>G (p.Phe249Cys) c.805T>G c.1937T>G (p.Phe646Cys) c.3065T>G (p.Phe1022Cys) c.3245T>G (p.Phe1082Cys) c.2912T>G (p.Phe971Cys) | |
| 7 | g.117611597C>A | CA368991825 | CFTR | c.3156C>A (p.Phe1052Leu) c.*2870C>A (n.*2870C>A) c.2973C>A (p.Phe991Leu) c.*1456C>A (n.*1456C>A) c.*2980C>A (n.*2980C>A) c.2730C>A (p.Phe910Leu) c.747C>A (p.Phe249Leu) c.806C>A c.1938C>A (p.Phe646Leu) c.3066C>A (p.Phe1022Leu) c.3246C>A (p.Phe1082Leu) c.2913C>A (p.Phe971Leu) | |
| 7 | g.117611597C>G | CA368991827 | CFTR | c.3156C>G (p.Phe1052Leu) c.*2870C>G (n.*2870C>G) c.2973C>G (p.Phe991Leu) c.*1456C>G (n.*1456C>G) c.*2980C>G (n.*2980C>G) c.2730C>G (p.Phe910Leu) c.747C>G (p.Phe249Leu) c.806C>G c.1938C>G (p.Phe646Leu) c.3066C>G (p.Phe1022Leu) c.3246C>G (p.Phe1082Leu) c.2913C>G (p.Phe971Leu) | gnomAD v4 |
| 7 | g.117611597C>T | CA457229979 | CFTR | c.3156C>T (p.Phe1052=) c.*2870C>T (n.*2870C>T) c.2973C>T (p.Phe991=) c.*1456C>T (n.*1456C>T) c.*2980C>T (n.*2980C>T) c.2730C>T (p.Phe910=) c.747C>T (p.Phe249=) c.806C>T c.1938C>T (p.Phe646=) c.3066C>T (p.Phe1022=) c.3246C>T (p.Phe1082=) c.2913C>T (p.Phe971=) | ClinVar |
| 7 | g.117611598A= | CA1737386699 | CFTR | c.3157A= (p.Thr1053=) c.*2871A= (n.*2871A=) c.2974A= (p.Thr992=) c.*1457A= (n.*1457A=) c.*2981A= (n.*2981A=) c.2731A= (p.Thr911=) c.748A= (p.Thr250=) c.807A= c.1939A= (p.Thr647=) c.3067A= (p.Thr1023=) c.3247A= (p.Thr1083=) c.2914A= (p.Thr972=) | |
| 7 | g.117611598A>C | CA368991832 | CFTR | c.3157A>C (p.Thr1053Pro) c.*2871A>C (n.*2871A>C) c.2974A>C (p.Thr992Pro) c.*1457A>C (n.*1457A>C) c.*2981A>C (n.*2981A>C) c.2731A>C (p.Thr911Pro) c.748A>C (p.Thr250Pro) c.807A>C c.1939A>C (p.Thr647Pro) c.3067A>C (p.Thr1023Pro) c.3247A>C (p.Thr1083Pro) c.2914A>C (p.Thr972Pro) | |
| 7 | g.117611598A>G | CA368991835 | CFTR | c.3157A>G (p.Thr1053Ala) c.*2871A>G (n.*2871A>G) c.2974A>G (p.Thr992Ala) c.*1457A>G (n.*1457A>G) c.*2981A>G (n.*2981A>G) c.2731A>G (p.Thr911Ala) c.748A>G (p.Thr250Ala) c.807A>G c.1939A>G (p.Thr647Ala) c.3067A>G (p.Thr1023Ala) c.3247A>G (p.Thr1083Ala) c.2914A>G (p.Thr972Ala) | |
| 7 | g.117611598A>T | CA368991838 | CFTR | c.3157A>T (p.Thr1053Ser) c.*2871A>T (n.*2871A>T) c.2974A>T (p.Thr992Ser) c.*1457A>T (n.*1457A>T) c.*2981A>T (n.*2981A>T) c.2731A>T (p.Thr911Ser) c.748A>T (p.Thr250Ser) c.807A>T c.1939A>T (p.Thr647Ser) c.3067A>T (p.Thr1023Ser) c.3247A>T (p.Thr1083Ser) c.2914A>T (p.Thr972Ser) | ClinVar dbSNP |
| 7 | g.117611599C>A | CA368991849 | CFTR | c.3158C>A (p.Thr1053Asn) c.*2872C>A (n.*2872C>A) c.2975C>A (p.Thr992Asn) c.*1458C>A (n.*1458C>A) c.*2982C>A (n.*2982C>A) c.2732C>A (p.Thr911Asn) c.749C>A (p.Thr250Asn) c.808C>A c.1940C>A (p.Thr647Asn) c.3068C>A (p.Thr1023Asn) c.3248C>A (p.Thr1083Asn) c.2915C>A (p.Thr972Asn) | gnomAD v4 |
| 7 | g.117611599C= | CA1737386707 | CFTR | c.3158C= (p.Thr1053=) c.*2872C= (n.*2872C=) c.2975C= (p.Thr992=) c.*1458C= (n.*1458C=) c.*2982C= (n.*2982C=) c.2732C= (p.Thr911=) c.749C= (p.Thr250=) c.808C= c.1940C= (p.Thr647=) c.3068C= (p.Thr1023=) c.3248C= (p.Thr1083=) c.2915C= (p.Thr972=) | |
| 7 | g.117611599C>G | CA368991844 | CFTR | c.3158C>G (p.Thr1053Ser) c.*2872C>G (n.*2872C>G) c.2975C>G (p.Thr992Ser) c.*1458C>G (n.*1458C>G) c.*2982C>G (n.*2982C>G) c.2732C>G (p.Thr911Ser) c.749C>G (p.Thr250Ser) c.808C>G c.1940C>G (p.Thr647Ser) c.3068C>G (p.Thr1023Ser) c.3248C>G (p.Thr1083Ser) c.2915C>G (p.Thr972Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611599C>T | CA327068 | CFTR | c.3158C>T (p.Thr1053Ile) c.*2872C>T (n.*2872C>T) c.2975C>T (p.Thr992Ile) c.*1458C>T (n.*1458C>T) c.*2982C>T (n.*2982C>T) c.2732C>T (p.Thr911Ile) c.749C>T (p.Thr250Ile) c.808C>T c.1940C>T (p.Thr647Ile) c.3068C>T (p.Thr1023Ile) c.3248C>T (p.Thr1083Ile) c.2915C>T (p.Thr972Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611600T>A | CA457229980 | CFTR | c.3159T>A (p.Thr1053=) c.*2873T>A (n.*2873T>A) c.2976T>A (p.Thr992=) c.*1459T>A (n.*1459T>A) c.*2983T>A (n.*2983T>A) c.2733T>A (p.Thr911=) c.750T>A (p.Thr250=) c.809T>A c.1941T>A (p.Thr647=) c.3069T>A (p.Thr1023=) c.3249T>A (p.Thr1083=) c.2916T>A (p.Thr972=) | ClinVar dbSNP |
| 7 | g.117611600T>C | CA457229981 | CFTR | c.3159T>C (p.Thr1053=) c.*2873T>C (n.*2873T>C) c.2976T>C (p.Thr992=) c.*1459T>C (n.*1459T>C) c.*2983T>C (n.*2983T>C) c.2733T>C (p.Thr911=) c.750T>C (p.Thr250=) c.809T>C c.1941T>C (p.Thr647=) c.3069T>C (p.Thr1023=) c.3249T>C (p.Thr1083=) c.2916T>C (p.Thr972=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611600T>G | CA457229982 | CFTR | c.3159T>G (p.Thr1053=) c.*2873T>G (n.*2873T>G) c.2976T>G (p.Thr992=) c.*1459T>G (n.*1459T>G) c.*2983T>G (n.*2983T>G) c.2733T>G (p.Thr911=) c.750T>G (p.Thr250=) c.809T>G c.1941T>G (p.Thr647=) c.3069T>G (p.Thr1023=) c.3249T>G (p.Thr1083=) c.2916T>G (p.Thr972=) | COSMIC |
| 7 | g.117611600T= | CA1737386713 | CFTR | c.3159T= (p.Thr1053=) c.*2873T= (n.*2873T=) c.2976T= (p.Thr992=) c.*1459T= (n.*1459T=) c.*2983T= (n.*2983T=) c.2733T= (p.Thr911=) c.750T= (p.Thr250=) c.809T= c.1941T= (p.Thr647=) c.3069T= (p.Thr1023=) c.3249T= (p.Thr1083=) c.2916T= (p.Thr972=) | |
| 7 | g.117611601C>A | CA368991852 | CFTR | c.3160C>A (p.His1054Asn) c.*2874C>A (n.*2874C>A) c.2977C>A (p.His993Asn) c.*1460C>A (n.*1460C>A) c.*2984C>A (n.*2984C>A) c.2734C>A (p.His912Asn) c.751C>A (p.His251Asn) c.810C>A c.1942C>A (p.His648Asn) c.3070C>A (p.His1024Asn) c.3250C>A (p.His1084Asn) c.2917C>A (p.His973Asn) | |
| 7 | g.117611601C= | CA1737386722 | CFTR | c.3160C= (p.His1054=) c.*2874C= (n.*2874C=) c.2977C= (p.His993=) c.*1460C= (n.*1460C=) c.*2984C= (n.*2984C=) c.2734C= (p.His912=) c.751C= (p.His251=) c.810C= c.1942C= (p.His648=) c.3070C= (p.His1024=) c.3250C= (p.His1084=) c.2917C= (p.His973=) | |
| 7 | g.117611601C>G | CA327070 | CFTR | c.3160C>G (p.His1054Asp) c.*2874C>G (n.*2874C>G) c.2977C>G (p.His993Asp) c.*1460C>G (n.*1460C>G) c.*2984C>G (n.*2984C>G) c.2734C>G (p.His912Asp) c.751C>G (p.His251Asp) c.810C>G c.1942C>G (p.His648Asp) c.3070C>G (p.His1024Asp) c.3250C>G (p.His1084Asp) c.2917C>G (p.His973Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611601C>T | CA368991857 | CFTR | c.3160C>T (p.His1054Tyr) c.*2874C>T (n.*2874C>T) c.2977C>T (p.His993Tyr) c.*1460C>T (n.*1460C>T) c.*2984C>T (n.*2984C>T) c.2734C>T (p.His912Tyr) c.751C>T (p.His251Tyr) c.810C>T c.1942C>T (p.His648Tyr) c.3070C>T (p.His1024Tyr) c.3250C>T (p.His1084Tyr) c.2917C>T (p.His973Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611601_117611602delinsCA | CA1737386717 | CFTR | c.3160_3161delinsCA (p.His1054=) c.*2874_*2875delinsCA (n.*2874_*2875delinsCA) c.2977_2978delinsCA (p.His993=) c.*1460_*1461delinsCA (n.*1460_*1461delinsCA) c.*2984_*2985delinsCA (n.*2984_*2985delinsCA) c.2734_2735delinsCA (p.His912=) c.751_752delinsCA (p.His251=) c.810_811delinsCA c.1942_1943delinsCA (p.His648=) c.3070_3071delinsCA (p.His1024=) c.3250_3251delinsCA (p.His1084=) c.2917_2918delinsCA (p.His973=) | |
| 7 | g.117611602del | CA325607 | CFTR | c.3161del (p.His1054LeufsTer6) c.*2875del (n.*2875del) c.2978del (p.His993LeufsTer6) c.*1461del (n.*1461del) c.*2985del (n.*2985del) c.2735del (p.His912LeufsTer6) c.752del (p.His251LeufsTer6) c.811del c.1943del (p.His648LeufsTer6) c.3071del (p.His1024LeufsTer6) c.3251del (p.His1084LeufsTer6) c.2918del (p.His973LeufsTer6) | ClinVar dbSNP |
| 7 | g.117611602A= | CA1737386729 | CFTR | c.3161A= (p.His1054=) c.*2875A= (n.*2875A=) c.2978A= (p.His993=) c.*1461A= (n.*1461A=) c.*2985A= (n.*2985A=) c.2735A= (p.His912=) c.752A= (p.His251=) c.811A= c.1943A= (p.His648=) c.3071A= (p.His1024=) c.3251A= (p.His1084=) c.2918A= (p.His973=) | |
| 7 | g.117611602A>C | CA368991862 | CFTR | c.3161A>C (p.His1054Pro) c.*2875A>C (n.*2875A>C) c.2978A>C (p.His993Pro) c.*1461A>C (n.*1461A>C) c.*2985A>C (n.*2985A>C) c.2735A>C (p.His912Pro) c.752A>C (p.His251Pro) c.811A>C c.1943A>C (p.His648Pro) c.3071A>C (p.His1024Pro) c.3251A>C (p.His1084Pro) c.2918A>C (p.His973Pro) | gnomAD v4 |
| 7 | g.117611602A>G | CA368991865 | CFTR | c.3161A>G (p.His1054Arg) c.*2875A>G (n.*2875A>G) c.2978A>G (p.His993Arg) c.*1461A>G (n.*1461A>G) c.*2985A>G (n.*2985A>G) c.2735A>G (p.His912Arg) c.752A>G (p.His251Arg) c.811A>G c.1943A>G (p.His648Arg) c.3071A>G (p.His1024Arg) c.3251A>G (p.His1084Arg) c.2918A>G (p.His973Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611602A>T | CA368991868 | CFTR | c.3161A>T (p.His1054Leu) c.*2875A>T (n.*2875A>T) c.2978A>T (p.His993Leu) c.*1461A>T (n.*1461A>T) c.*2985A>T (n.*2985A>T) c.2735A>T (p.His912Leu) c.752A>T (p.His251Leu) c.811A>T c.1943A>T (p.His648Leu) c.3071A>T (p.His1024Leu) c.3251A>T (p.His1084Leu) c.2918A>T (p.His973Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611603T>A | CA4451405 | CFTR | c.3162T>A (p.His1054Gln) c.*2876T>A (n.*2876T>A) c.2979T>A (p.His993Gln) c.*1462T>A (n.*1462T>A) c.*2986T>A (n.*2986T>A) c.2736T>A (p.His912Gln) c.753T>A (p.His251Gln) c.812T>A c.1944T>A (p.His648Gln) c.3072T>A (p.His1024Gln) c.3252T>A (p.His1084Gln) c.2919T>A (p.His973Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611603T>C | CA457229983 | CFTR | c.3162T>C (p.His1054=) c.*2876T>C (n.*2876T>C) c.2979T>C (p.His993=) c.*1462T>C (n.*1462T>C) c.*2986T>C (n.*2986T>C) c.2736T>C (p.His912=) c.753T>C (p.His251=) c.812T>C c.1944T>C (p.His648=) c.3072T>C (p.His1024=) c.3252T>C (p.His1084=) c.2919T>C (p.His973=) | ClinVar dbSNP |
| 7 | g.117611603T>G | CA368991875 | CFTR | c.3162T>G (p.His1054Gln) c.*2876T>G (n.*2876T>G) c.2979T>G (p.His993Gln) c.*1462T>G (n.*1462T>G) c.*2986T>G (n.*2986T>G) c.2736T>G (p.His912Gln) c.753T>G (p.His251Gln) c.812T>G c.1944T>G (p.His648Gln) c.3072T>G (p.His1024Gln) c.3252T>G (p.His1084Gln) c.2919T>G (p.His973Gln) | |
| 7 | g.117611603T= | CA1737386734 | CFTR | c.3162T= (p.His1054=) c.*2876T= (n.*2876T=) c.2979T= (p.His993=) c.*1462T= (n.*1462T=) c.*2986T= (n.*2986T=) c.2736T= (p.His912=) c.753T= (p.His251=) c.812T= c.1944T= (p.His648=) c.3072T= (p.His1024=) c.3252T= (p.His1084=) c.2919T= (p.His973=) | |
| 7 | g.117611604C>A | CA368991880 | CFTR | c.3163C>A (p.Leu1055Ile) c.*2877C>A (n.*2877C>A) c.2980C>A (p.Leu994Ile) c.*1463C>A (n.*1463C>A) c.*2987C>A (n.*2987C>A) c.2737C>A (p.Leu913Ile) c.754C>A (p.Leu252Ile) c.813C>A c.1945C>A (p.Leu649Ile) c.3073C>A (p.Leu1025Ile) c.3253C>A (p.Leu1085Ile) c.2920C>A (p.Leu974Ile) | |
| 7 | g.117611604C>G | CA368991883 | CFTR | c.3163C>G (p.Leu1055Val) c.*2877C>G (n.*2877C>G) c.2980C>G (p.Leu994Val) c.*1463C>G (n.*1463C>G) c.*2987C>G (n.*2987C>G) c.2737C>G (p.Leu913Val) c.754C>G (p.Leu252Val) c.813C>G c.1945C>G (p.Leu649Val) c.3073C>G (p.Leu1025Val) c.3253C>G (p.Leu1085Val) c.2920C>G (p.Leu974Val) | |
| 7 | g.117611604C>T | CA368991886 | CFTR | c.3163C>T (p.Leu1055Phe) c.*2877C>T (n.*2877C>T) c.2980C>T (p.Leu994Phe) c.*1463C>T (n.*1463C>T) c.*2987C>T (n.*2987C>T) c.2737C>T (p.Leu913Phe) c.754C>T (p.Leu252Phe) c.813C>T c.1945C>T (p.Leu649Phe) c.3073C>T (p.Leu1025Phe) c.3253C>T (p.Leu1085Phe) c.2920C>T (p.Leu974Phe) | |
| 7 | g.117611605T>A | CA368991894 | CFTR | c.3164T>A (p.Leu1055His) c.*2878T>A (n.*2878T>A) c.2981T>A (p.Leu994His) c.*1464T>A (n.*1464T>A) c.*2988T>A (n.*2988T>A) c.2738T>A (p.Leu913His) c.755T>A (p.Leu252His) c.814T>A c.1946T>A (p.Leu649His) c.3074T>A (p.Leu1025His) c.3254T>A (p.Leu1085His) c.2921T>A (p.Leu974His) | |
| 7 | g.117611605T>C | CA368991892 | CFTR | c.3164T>C (p.Leu1055Pro) c.*2878T>C (n.*2878T>C) c.2981T>C (p.Leu994Pro) c.*1464T>C (n.*1464T>C) c.*2988T>C (n.*2988T>C) c.2738T>C (p.Leu913Pro) c.755T>C (p.Leu252Pro) c.814T>C c.1946T>C (p.Leu649Pro) c.3074T>C (p.Leu1025Pro) c.3254T>C (p.Leu1085Pro) c.2921T>C (p.Leu974Pro) | dbSNP |
| 7 | g.117611605T>G | CA368991890 | CFTR | c.3164T>G (p.Leu1055Arg) c.*2878T>G (n.*2878T>G) c.2981T>G (p.Leu994Arg) c.*1464T>G (n.*1464T>G) c.*2988T>G (n.*2988T>G) c.2738T>G (p.Leu913Arg) c.755T>G (p.Leu252Arg) c.814T>G c.1946T>G (p.Leu649Arg) c.3074T>G (p.Leu1025Arg) c.3254T>G (p.Leu1085Arg) c.2921T>G (p.Leu974Arg) | |
| 7 | g.117611606T>A | CA457229984 | CFTR | c.3165T>A (p.Leu1055=) c.*2879T>A (n.*2879T>A) c.2982T>A (p.Leu994=) c.*1465T>A (n.*1465T>A) c.*2989T>A (n.*2989T>A) c.2739T>A (p.Leu913=) c.756T>A (p.Leu252=) c.815T>A c.1947T>A (p.Leu649=) c.3075T>A (p.Leu1025=) c.3255T>A (p.Leu1085=) c.2922T>A (p.Leu974=) | |
| 7 | g.117611606T>C | CA457229985 | CFTR | c.3165T>C (p.Leu1055=) c.*2879T>C (n.*2879T>C) c.2982T>C (p.Leu994=) c.*1465T>C (n.*1465T>C) c.*2989T>C (n.*2989T>C) c.2739T>C (p.Leu913=) c.756T>C (p.Leu252=) c.815T>C c.1947T>C (p.Leu649=) c.3075T>C (p.Leu1025=) c.3255T>C (p.Leu1085=) c.2922T>C (p.Leu974=) | dbSNP |
| 7 | g.117611606T>G | CA457229986 | CFTR | c.3165T>G (p.Leu1055=) c.*2879T>G (n.*2879T>G) c.2982T>G (p.Leu994=) c.*1465T>G (n.*1465T>G) c.*2989T>G (n.*2989T>G) c.2739T>G (p.Leu913=) c.756T>G (p.Leu252=) c.815T>G c.1947T>G (p.Leu649=) c.3075T>G (p.Leu1025=) c.3255T>G (p.Leu1085=) c.2922T>G (p.Leu974=) | |
| 7 | g.117611606T= | CA1737386737 | CFTR | c.3165T= (p.Leu1055=) c.*2879T= (n.*2879T=) c.2982T= (p.Leu994=) c.*1465T= (n.*1465T=) c.*2989T= (n.*2989T=) c.2739T= (p.Leu913=) c.756T= (p.Leu252=) c.815T= c.1947T= (p.Leu649=) c.3075T= (p.Leu1025=) c.3255T= (p.Leu1085=) c.2922T= (p.Leu974=) | |
| 7 | g.117611607G>A | CA368991896 | CFTR | c.3166G>A (p.Val1056Ile) c.*2880G>A (n.*2880G>A) c.2983G>A (p.Val995Ile) c.*1466G>A (n.*1466G>A) c.*2990G>A (n.*2990G>A) c.2740G>A (p.Val914Ile) c.757G>A (p.Val253Ile) c.816G>A c.1948G>A (p.Val650Ile) c.3076G>A (p.Val1026Ile) c.3256G>A (p.Val1086Ile) c.2923G>A (p.Val975Ile) | dbSNP |
| 7 | g.117611607G>C | CA368991898 | CFTR | c.3166G>C (p.Val1056Leu) c.*2880G>C (n.*2880G>C) c.2983G>C (p.Val995Leu) c.*1466G>C (n.*1466G>C) c.*2990G>C (n.*2990G>C) c.2740G>C (p.Val914Leu) c.757G>C (p.Val253Leu) c.816G>C c.1948G>C (p.Val650Leu) c.3076G>C (p.Val1026Leu) c.3256G>C (p.Val1086Leu) c.2923G>C (p.Val975Leu) | gnomAD v4 |
| 7 | g.117611607G= | CA1737386739 | CFTR | c.3166G= (p.Val1056=) c.*2880G= (n.*2880G=) c.2983G= (p.Val995=) c.*1466G= (n.*1466G=) c.*2990G= (n.*2990G=) c.2740G= (p.Val914=) c.757G= (p.Val253=) c.816G= c.1948G= (p.Val650=) c.3076G= (p.Val1026=) c.3256G= (p.Val1086=) c.2923G= (p.Val975=) | |
| 7 | g.117611607G>T | CA368991900 | CFTR | c.3166G>T (p.Val1056Phe) c.*2880G>T (n.*2880G>T) c.2983G>T (p.Val995Phe) c.*1466G>T (n.*1466G>T) c.*2990G>T (n.*2990G>T) c.2740G>T (p.Val914Phe) c.757G>T (p.Val253Phe) c.816G>T c.1948G>T (p.Val650Phe) c.3076G>T (p.Val1026Phe) c.3256G>T (p.Val1086Phe) c.2923G>T (p.Val975Phe) | dbSNP |
| 7 | g.117611608T>A | CA368991902 | CFTR | c.3167T>A (p.Val1056Asp) c.*2881T>A (n.*2881T>A) c.2984T>A (p.Val995Asp) c.*1467T>A (n.*1467T>A) c.*2991T>A (n.*2991T>A) c.2741T>A (p.Val914Asp) c.758T>A (p.Val253Asp) c.817T>A c.1949T>A (p.Val650Asp) c.3077T>A (p.Val1026Asp) c.3257T>A (p.Val1086Asp) c.2924T>A (p.Val975Asp) | |
| 7 | g.117611608T>C | CA368991905 | CFTR | c.3167T>C (p.Val1056Ala) c.*2881T>C (n.*2881T>C) c.2984T>C (p.Val995Ala) c.*1467T>C (n.*1467T>C) c.*2991T>C (n.*2991T>C) c.2741T>C (p.Val914Ala) c.758T>C (p.Val253Ala) c.817T>C c.1949T>C (p.Val650Ala) c.3077T>C (p.Val1026Ala) c.3257T>C (p.Val1086Ala) c.2924T>C (p.Val975Ala) | ClinVar dbSNP |
| 7 | g.117611608T>G | CA368991907 | CFTR | c.3167T>G (p.Val1056Gly) c.*2881T>G (n.*2881T>G) c.2984T>G (p.Val995Gly) c.*1467T>G (n.*1467T>G) c.*2991T>G (n.*2991T>G) c.2741T>G (p.Val914Gly) c.758T>G (p.Val253Gly) c.817T>G c.1949T>G (p.Val650Gly) c.3077T>G (p.Val1026Gly) c.3257T>G (p.Val1086Gly) c.2924T>G (p.Val975Gly) | |
| 7 | g.117611609del | CA2580076363 | CFTR | c.3168del (p.Thr1057GlnfsTer3) c.*2882del (n.*2882del) c.2985del (p.Thr996GlnfsTer3) c.*1468del (n.*1468del) c.*2992del (n.*2992del) c.2742del (p.Thr915GlnfsTer3) c.759del (p.Thr254GlnfsTer3) c.818del c.1950del (p.Thr651GlnfsTer3) c.3078del (p.Thr1027GlnfsTer3) c.3258del (p.Thr1087GlnfsTer3) c.2925del (p.Thr976GlnfsTer3) | ClinVar |
| 7 | g.117611609T>A | CA457229987 | CFTR | c.3168T>A (p.Val1056=) c.*2882T>A (n.*2882T>A) c.2985T>A (p.Val995=) c.*1468T>A (n.*1468T>A) c.*2992T>A (n.*2992T>A) c.2742T>A (p.Val914=) c.759T>A (p.Val253=) c.818T>A c.1950T>A (p.Val650=) c.3078T>A (p.Val1026=) c.3258T>A (p.Val1086=) c.2925T>A (p.Val975=) | |
| 7 | g.117611609T>C | CA457229988 | CFTR | c.3168T>C (p.Val1056=) c.*2882T>C (n.*2882T>C) c.2985T>C (p.Val995=) c.*1468T>C (n.*1468T>C) c.*2992T>C (n.*2992T>C) c.2742T>C (p.Val914=) c.759T>C (p.Val253=) c.818T>C c.1950T>C (p.Val650=) c.3078T>C (p.Val1026=) c.3258T>C (p.Val1086=) c.2925T>C (p.Val975=) | |
| 7 | g.117611609T>G | CA457229989 | CFTR | c.3168T>G (p.Val1056=) c.*2882T>G (n.*2882T>G) c.2985T>G (p.Val995=) c.*1468T>G (n.*1468T>G) c.*2992T>G (n.*2992T>G) c.2742T>G (p.Val914=) c.759T>G (p.Val253=) c.818T>G c.1950T>G (p.Val650=) c.3078T>G (p.Val1026=) c.3258T>G (p.Val1086=) c.2925T>G (p.Val975=) | |
| 7 | g.117611610A= | CA1737386747 | CFTR | c.3169A= (p.Thr1057=) c.*2883A= (n.*2883A=) c.2986A= (p.Thr996=) c.*1469A= (n.*1469A=) c.*2993A= (n.*2993A=) c.2743A= (p.Thr915=) c.760A= (p.Thr254=) c.819A= c.1951A= (p.Thr651=) c.3079A= (p.Thr1027=) c.3259A= (p.Thr1087=) c.2926A= (p.Thr976=) | |
| 7 | g.117611610A>C | CA368991908 | CFTR | c.3169A>C (p.Thr1057Pro) c.*2883A>C (n.*2883A>C) c.2986A>C (p.Thr996Pro) c.*1469A>C (n.*1469A>C) c.*2993A>C (n.*2993A>C) c.2743A>C (p.Thr915Pro) c.760A>C (p.Thr254Pro) c.819A>C c.1951A>C (p.Thr651Pro) c.3079A>C (p.Thr1027Pro) c.3259A>C (p.Thr1087Pro) c.2926A>C (p.Thr976Pro) | |
| 7 | g.117611610A>G | CA327072 | CFTR | c.3169A>G (p.Thr1057Ala) c.*2883A>G (n.*2883A>G) c.2986A>G (p.Thr996Ala) c.*1469A>G (n.*1469A>G) c.*2993A>G (n.*2993A>G) c.2743A>G (p.Thr915Ala) c.760A>G (p.Thr254Ala) c.819A>G c.1951A>G (p.Thr651Ala) c.3079A>G (p.Thr1027Ala) c.3259A>G (p.Thr1087Ala) c.2926A>G (p.Thr976Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611610A>T | CA368991912 | CFTR | c.3169A>T (p.Thr1057Ser) c.*2883A>T (n.*2883A>T) c.2986A>T (p.Thr996Ser) c.*1469A>T (n.*1469A>T) c.*2993A>T (n.*2993A>T) c.2743A>T (p.Thr915Ser) c.760A>T (p.Thr254Ser) c.819A>T c.1951A>T (p.Thr651Ser) c.3079A>T (p.Thr1027Ser) c.3259A>T (p.Thr1087Ser) c.2926A>T (p.Thr976Ser) | |
| 7 | g.117611611C>A | CA368991916 | CFTR | c.3170C>A (p.Thr1057Lys) c.*2884C>A (n.*2884C>A) c.2987C>A (p.Thr996Lys) c.*1470C>A (n.*1470C>A) c.*2994C>A (n.*2994C>A) c.2744C>A (p.Thr915Lys) c.761C>A (p.Thr254Lys) c.820C>A c.1952C>A (p.Thr651Lys) c.3080C>A (p.Thr1027Lys) c.3260C>A (p.Thr1087Lys) c.2927C>A (p.Thr976Lys) | |
| 7 | g.117611611C>G | CA368991917 | CFTR | c.3170C>G (p.Thr1057Arg) c.*2884C>G (n.*2884C>G) c.2987C>G (p.Thr996Arg) c.*1470C>G (n.*1470C>G) c.*2994C>G (n.*2994C>G) c.2744C>G (p.Thr915Arg) c.761C>G (p.Thr254Arg) c.820C>G c.1952C>G (p.Thr651Arg) c.3080C>G (p.Thr1027Arg) c.3260C>G (p.Thr1087Arg) c.2927C>G (p.Thr976Arg) | gnomAD v4 |
| 7 | g.117611611C>T | CA368991919 | CFTR | c.3170C>T (p.Thr1057Ile) c.*2884C>T (n.*2884C>T) c.2987C>T (p.Thr996Ile) c.*1470C>T (n.*1470C>T) c.*2994C>T (n.*2994C>T) c.2744C>T (p.Thr915Ile) c.761C>T (p.Thr254Ile) c.820C>T c.1952C>T (p.Thr651Ile) c.3080C>T (p.Thr1027Ile) c.3260C>T (p.Thr1087Ile) c.2927C>T (p.Thr976Ile) | gnomAD v4 |
| 7 | g.117611612A>C | CA457229990 | CFTR | c.3171A>C (p.Thr1057=) c.*2885A>C (n.*2885A>C) c.2988A>C (p.Thr996=) c.*1471A>C (n.*1471A>C) c.*2995A>C (n.*2995A>C) c.2745A>C (p.Thr915=) c.762A>C (p.Thr254=) c.821A>C c.1953A>C (p.Thr651=) c.3081A>C (p.Thr1027=) c.3261A>C (p.Thr1087=) c.2928A>C (p.Thr976=) | |
| 7 | g.117611612A>G | CA457229991 | CFTR | c.3171A>G (p.Thr1057=) c.*2885A>G (n.*2885A>G) c.2988A>G (p.Thr996=) c.*1471A>G (n.*1471A>G) c.*2995A>G (n.*2995A>G) c.2745A>G (p.Thr915=) c.762A>G (p.Thr254=) c.821A>G c.1953A>G (p.Thr651=) c.3081A>G (p.Thr1027=) c.3261A>G (p.Thr1087=) c.2928A>G (p.Thr976=) | |
| 7 | g.117611612A>T | CA457229992 | CFTR | c.3171A>T (p.Thr1057=) c.*2885A>T (n.*2885A>T) c.2988A>T (p.Thr996=) c.*1471A>T (n.*1471A>T) c.*2995A>T (n.*2995A>T) c.2745A>T (p.Thr915=) c.762A>T (p.Thr254=) c.821A>T c.1953A>T (p.Thr651=) c.3081A>T (p.Thr1027=) c.3261A>T (p.Thr1087=) c.2928A>T (p.Thr976=) | |
| 7 | g.117611613A>C | CA368991922 | CFTR | c.3172A>C (p.Ser1058Arg) c.*2886A>C (n.*2886A>C) c.2989A>C (p.Ser997Arg) c.*1472A>C (n.*1472A>C) c.*2996A>C (n.*2996A>C) c.2746A>C (p.Ser916Arg) c.763A>C (p.Ser255Arg) c.822A>C c.1954A>C (p.Ser652Arg) c.3082A>C (p.Ser1028Arg) c.3262A>C (p.Ser1088Arg) c.2929A>C (p.Ser977Arg) | |
| 7 | g.117611613A>G | CA368991927 | CFTR | c.3172A>G (p.Ser1058Gly) c.*2886A>G (n.*2886A>G) c.2989A>G (p.Ser997Gly) c.*1472A>G (n.*1472A>G) c.*2996A>G (n.*2996A>G) c.2746A>G (p.Ser916Gly) c.763A>G (p.Ser255Gly) c.822A>G c.1954A>G (p.Ser652Gly) c.3082A>G (p.Ser1028Gly) c.3262A>G (p.Ser1088Gly) c.2929A>G (p.Ser977Gly) | |
| 7 | g.117611613A>T | CA368991925 | CFTR | c.3172A>T (p.Ser1058Cys) c.*2886A>T (n.*2886A>T) c.2989A>T (p.Ser997Cys) c.*1472A>T (n.*1472A>T) c.*2996A>T (n.*2996A>T) c.2746A>T (p.Ser916Cys) c.763A>T (p.Ser255Cys) c.822A>T c.1954A>T (p.Ser652Cys) c.3082A>T (p.Ser1028Cys) c.3262A>T (p.Ser1088Cys) c.2929A>T (p.Ser977Cys) | |
| 7 | g.117611614G>A | CA368991929 | CFTR | c.3173G>A (p.Ser1058Asn) c.*2887G>A (n.*2887G>A) c.2990G>A (p.Ser997Asn) c.*1473G>A (n.*1473G>A) c.*2997G>A (n.*2997G>A) c.2747G>A (p.Ser916Asn) c.764G>A (p.Ser255Asn) c.823G>A c.1955G>A (p.Ser652Asn) c.3083G>A (p.Ser1028Asn) c.3263G>A (p.Ser1088Asn) c.2930G>A (p.Ser977Asn) | |
| 7 | g.117611614G>C | CA368991932 | CFTR | c.3173G>C (p.Ser1058Thr) c.*2887G>C (n.*2887G>C) c.2990G>C (p.Ser997Thr) c.*1473G>C (n.*1473G>C) c.*2997G>C (n.*2997G>C) c.2747G>C (p.Ser916Thr) c.764G>C (p.Ser255Thr) c.823G>C c.1955G>C (p.Ser652Thr) c.3083G>C (p.Ser1028Thr) c.3263G>C (p.Ser1088Thr) c.2930G>C (p.Ser977Thr) | |
| 7 | g.117611614G>T | CA368991931 | CFTR | c.3173G>T (p.Ser1058Ile) c.*2887G>T (n.*2887G>T) c.2990G>T (p.Ser997Ile) c.*1473G>T (n.*1473G>T) c.*2997G>T (n.*2997G>T) c.2747G>T (p.Ser916Ile) c.764G>T (p.Ser255Ile) c.823G>T c.1955G>T (p.Ser652Ile) c.3083G>T (p.Ser1028Ile) c.3263G>T (p.Ser1088Ile) c.2930G>T (p.Ser977Ile) | |
| 7 | g.117611615C>A | CA368991934 | CFTR | c.3174C>A (p.Ser1058Arg) c.*2888C>A (n.*2888C>A) c.2991C>A (p.Ser997Arg) c.*1474C>A (n.*1474C>A) c.*2998C>A (n.*2998C>A) c.2748C>A (p.Ser916Arg) c.765C>A (p.Ser255Arg) c.824C>A c.1956C>A (p.Ser652Arg) c.3084C>A (p.Ser1028Arg) c.3264C>A (p.Ser1088Arg) c.2931C>A (p.Ser977Arg) | gnomAD v4 |
| 7 | g.117611615C= | CA1737386765 | CFTR | c.3174C= (p.Ser1058=) c.*2888C= (n.*2888C=) c.2991C= (p.Ser997=) c.*1474C= (n.*1474C=) c.*2998C= (n.*2998C=) c.2748C= (p.Ser916=) c.765C= (p.Ser255=) c.824C= c.1956C= (p.Ser652=) c.3084C= (p.Ser1028=) c.3264C= (p.Ser1088=) c.2931C= (p.Ser977=) | |
| 7 | g.117611615C>G | CA368991937 | CFTR | c.3174C>G (p.Ser1058Arg) c.*2888C>G (n.*2888C>G) c.2991C>G (p.Ser997Arg) c.*1474C>G (n.*1474C>G) c.*2998C>G (n.*2998C>G) c.2748C>G (p.Ser916Arg) c.765C>G (p.Ser255Arg) c.824C>G c.1956C>G (p.Ser652Arg) c.3084C>G (p.Ser1028Arg) c.3264C>G (p.Ser1088Arg) c.2931C>G (p.Ser977Arg) | |
| 7 | g.117611615C>T | CA457229993 | CFTR | c.3174C>T (p.Ser1058=) c.*2888C>T (n.*2888C>T) c.2991C>T (p.Ser997=) c.*1474C>T (n.*1474C>T) c.*2998C>T (n.*2998C>T) c.2748C>T (p.Ser916=) c.765C>T (p.Ser255=) c.824C>T c.1956C>T (p.Ser652=) c.3084C>T (p.Ser1028=) c.3264C>T (p.Ser1088=) c.2931C>T (p.Ser977=) | ClinVar dbSNP |
| 7 | g.117611616T>A | CA368991939 | CFTR | c.3175T>A (p.Leu1059Ile) c.*2889T>A (n.*2889T>A) c.2992T>A (p.Leu998Ile) c.*1475T>A (n.*1475T>A) c.*2999T>A (n.*2999T>A) c.2749T>A (p.Leu917Ile) c.766T>A (p.Leu256Ile) c.825T>A c.1957T>A (p.Leu653Ile) c.3085T>A (p.Leu1029Ile) c.3265T>A (p.Leu1089Ile) c.2932T>A (p.Leu978Ile) | dbSNP |
| 7 | g.117611616T>C | CA4451406 | CFTR | c.3175T>C (p.Leu1059=) c.*2889T>C (n.*2889T>C) c.2992T>C (p.Leu998=) c.*1475T>C (n.*1475T>C) c.*2999T>C (n.*2999T>C) c.2749T>C (p.Leu917=) c.766T>C (p.Leu256=) c.825T>C c.1957T>C (p.Leu653=) c.3085T>C (p.Leu1029=) c.3265T>C (p.Leu1089=) c.2932T>C (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611616T>G | CA368991941 | CFTR | c.3175T>G (p.Leu1059Val) c.*2889T>G (n.*2889T>G) c.2992T>G (p.Leu998Val) c.*1475T>G (n.*1475T>G) c.*2999T>G (n.*2999T>G) c.2749T>G (p.Leu917Val) c.766T>G (p.Leu256Val) c.825T>G c.1957T>G (p.Leu653Val) c.3085T>G (p.Leu1029Val) c.3265T>G (p.Leu1089Val) c.2932T>G (p.Leu978Val) | |
| 7 | g.117611616T= | CA1737386770 | CFTR | c.3175T= (p.Leu1059=) c.*2889T= (n.*2889T=) c.2992T= (p.Leu998=) c.*1475T= (n.*1475T=) c.*2999T= (n.*2999T=) c.2749T= (p.Leu917=) c.766T= (p.Leu256=) c.825T= c.1957T= (p.Leu653=) c.3085T= (p.Leu1029=) c.3265T= (p.Leu1089=) c.2932T= (p.Leu978=) | |
| 7 | g.117611617T>A | CA368991945 | CFTR | c.3176T>A (p.Leu1059Ter) c.*2890T>A (n.*2890T>A) c.2993T>A (p.Leu998Ter) c.*1476T>A (n.*1476T>A) c.*3000T>A (n.*3000T>A) c.2750T>A (p.Leu917Ter) c.767T>A (p.Leu256Ter) c.826T>A c.1958T>A (p.Leu653Ter) c.3086T>A (p.Leu1029Ter) c.1T>A c.3266T>A (p.Leu1089Ter) c.2933T>A (p.Leu978Ter) | |
| 7 | g.117611617T>C | CA368991946 | CFTR | c.3176T>C (p.Leu1059Ser) c.*2890T>C (n.*2890T>C) c.2993T>C (p.Leu998Ser) c.*1476T>C (n.*1476T>C) c.*3000T>C (n.*3000T>C) c.2750T>C (p.Leu917Ser) c.767T>C (p.Leu256Ser) c.826T>C c.1958T>C (p.Leu653Ser) c.3086T>C (p.Leu1029Ser) c.1T>C c.3266T>C (p.Leu1089Ser) c.2933T>C (p.Leu978Ser) | |
| 7 | g.117611617T>G | CA327074 | CFTR | c.3176T>G (p.Leu1059Ter) c.*2890T>G (n.*2890T>G) c.2993T>G (p.Leu998Ter) c.*1476T>G (n.*1476T>G) c.*3000T>G (n.*3000T>G) c.2750T>G (p.Leu917Ter) c.767T>G (p.Leu256Ter) c.826T>G c.1958T>G (p.Leu653Ter) c.3086T>G (p.Leu1029Ter) c.1T>G c.3266T>G (p.Leu1089Ter) c.2933T>G (p.Leu978Ter) | ClinVar dbSNP |
| 7 | g.117611617T= | CA1737386774 | CFTR | c.3176T= (p.Leu1059=) c.*2890T= (n.*2890T=) c.2993T= (p.Leu998=) c.*1476T= (n.*1476T=) c.*3000T= (n.*3000T=) c.2750T= (p.Leu917=) c.767T= (p.Leu256=) c.826T= c.1958T= (p.Leu653=) c.3086T= (p.Leu1029=) c.1T= c.3266T= (p.Leu1089=) c.2933T= (p.Leu978=) | |
| 7 | g.117611618A= | CA1737386789 | CFTR | c.3177A= (p.Leu1059=) c.*2891A= (n.*2891A=) c.2994A= (p.Leu998=) c.*1477A= (n.*1477A=) c.*3001A= (n.*3001A=) c.2751A= (p.Leu917=) c.768A= (p.Leu256=) c.827A= c.1959A= (p.Leu653=) c.3087A= (p.Leu1029=) c.2A= c.3267A= (p.Leu1089=) c.2934A= (p.Leu978=) | |
| 7 | g.117611618A>C | CA368991949 | CFTR | c.3177A>C (p.Leu1059Phe) c.*2891A>C (n.*2891A>C) c.2994A>C (p.Leu998Phe) c.*1477A>C (n.*1477A>C) c.*3001A>C (n.*3001A>C) c.2751A>C (p.Leu917Phe) c.768A>C (p.Leu256Phe) c.827A>C c.1959A>C (p.Leu653Phe) c.3087A>C (p.Leu1029Phe) c.2A>C c.3267A>C (p.Leu1089Phe) c.2934A>C (p.Leu978Phe) | |
| 7 | g.117611618A>G | CA327076 | CFTR | c.3177A>G (p.Leu1059=) c.*2891A>G (n.*2891A>G) c.2994A>G (p.Leu998=) c.*1477A>G (n.*1477A>G) c.*3001A>G (n.*3001A>G) c.2751A>G (p.Leu917=) c.768A>G (p.Leu256=) c.827A>G c.1959A>G (p.Leu653=) c.3087A>G (p.Leu1029=) c.2A>G c.3267A>G (p.Leu1089=) c.2934A>G (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611618A>T | CA368991952 | CFTR | c.3177A>T (p.Leu1059Phe) c.*2891A>T (n.*2891A>T) c.2994A>T (p.Leu998Phe) c.*1477A>T (n.*1477A>T) c.*3001A>T (n.*3001A>T) c.2751A>T (p.Leu917Phe) c.768A>T (p.Leu256Phe) c.827A>T c.1959A>T (p.Leu653Phe) c.3087A>T (p.Leu1029Phe) c.2A>T c.3267A>T (p.Leu1089Phe) c.2934A>T (p.Leu978Phe) | |
| 7 | g.117611621del | CA2580076368 | CFTR | c.3180del (p.Gly1061AspfsTer22) c.*2894del (n.*2894del) c.2997del (p.Gly1000AspfsTer22) c.*1480del (n.*1480del) c.*3004del (n.*3004del) c.2754del (p.Gly919AspfsTer22) c.771del (p.Gly258AspfsTer22) c.830del c.1962del (p.Gly655AspfsTer22) c.3090del (p.Gly1031AspfsTer22) c.5del c.3270del (p.Gly1091AspfsTer22) c.2937del (p.Gly980AspfsTer22) | ClinVar |
| 7 | g.117611619A= | CA1737386800 | CFTR | c.3178A= (p.Lys1060=) c.*2892A= (n.*2892A=) c.2995A= (p.Lys999=) c.*1478A= (n.*1478A=) c.*3002A= (n.*3002A=) c.2752A= (p.Lys918=) c.769A= (p.Lys257=) c.828A= c.1960A= (p.Lys654=) c.3088A= (p.Lys1030=) c.3A= c.3268A= (p.Lys1090=) c.2935A= (p.Lys979=) | |
| 7 | g.117611619A>C | CA368991954 | CFTR | c.3178A>C (p.Lys1060Gln) c.*2892A>C (n.*2892A>C) c.2995A>C (p.Lys999Gln) c.*1478A>C (n.*1478A>C) c.*3002A>C (n.*3002A>C) c.2752A>C (p.Lys918Gln) c.769A>C (p.Lys257Gln) c.828A>C c.1960A>C (p.Lys654Gln) c.3088A>C (p.Lys1030Gln) c.3A>C c.3268A>C (p.Lys1090Gln) c.2935A>C (p.Lys979Gln) | |
| 7 | g.117611619A>G | CA368991956 | CFTR | c.3178A>G (p.Lys1060Glu) c.*2892A>G (n.*2892A>G) c.2995A>G (p.Lys999Glu) c.*1478A>G (n.*1478A>G) c.*3002A>G (n.*3002A>G) c.2752A>G (p.Lys918Glu) c.769A>G (p.Lys257Glu) c.828A>G c.1960A>G (p.Lys654Glu) c.3088A>G (p.Lys1030Glu) c.3A>G c.3268A>G (p.Lys1090Glu) c.2935A>G (p.Lys979Glu) | ClinVar dbSNP |
| 7 | g.117611619A>T | CA368991958 | CFTR | c.3178A>T (p.Lys1060Ter) c.*2892A>T (n.*2892A>T) c.2995A>T (p.Lys999Ter) c.*1478A>T (n.*1478A>T) c.*3002A>T (n.*3002A>T) c.2752A>T (p.Lys918Ter) c.769A>T (p.Lys257Ter) c.828A>T c.1960A>T (p.Lys654Ter) c.3088A>T (p.Lys1030Ter) c.3A>T c.3268A>T (p.Lys1090Ter) c.2935A>T (p.Lys979Ter) | |
| 7 | g.117611620A= | CA1737386805 | CFTR | c.3179A= (p.Lys1060=) c.*2893A= (n.*2893A=) c.2996A= (p.Lys999=) c.*1479A= (n.*1479A=) c.*3003A= (n.*3003A=) c.2753A= (p.Lys918=) c.770A= (p.Lys257=) c.829A= c.1961A= (p.Lys654=) c.3089A= (p.Lys1030=) c.4A= c.3269A= (p.Lys1090=) c.2936A= (p.Lys979=) | |
| 7 | g.117611620A>C | CA327078 | CFTR | c.3179A>C (p.Lys1060Thr) c.*2893A>C (n.*2893A>C) c.2996A>C (p.Lys999Thr) c.*1479A>C (n.*1479A>C) c.*3003A>C (n.*3003A>C) c.2753A>C (p.Lys918Thr) c.770A>C (p.Lys257Thr) c.829A>C c.1961A>C (p.Lys654Thr) c.3089A>C (p.Lys1030Thr) c.4A>C c.3269A>C (p.Lys1090Thr) c.2936A>C (p.Lys979Thr) | ClinVar dbSNP |
| 7 | g.117611620A>G | CA368991962 | CFTR | c.3179A>G (p.Lys1060Arg) c.*2893A>G (n.*2893A>G) c.2996A>G (p.Lys999Arg) c.*1479A>G (n.*1479A>G) c.*3003A>G (n.*3003A>G) c.2753A>G (p.Lys918Arg) c.770A>G (p.Lys257Arg) c.829A>G c.1961A>G (p.Lys654Arg) c.3089A>G (p.Lys1030Arg) c.4A>G c.3269A>G (p.Lys1090Arg) c.2936A>G (p.Lys979Arg) | |
| 7 | g.117611620A>T | CA368991964 | CFTR | c.3179A>T (p.Lys1060Ile) c.*2893A>T (n.*2893A>T) c.2996A>T (p.Lys999Ile) c.*1479A>T (n.*1479A>T) c.*3003A>T (n.*3003A>T) c.2753A>T (p.Lys918Ile) c.770A>T (p.Lys257Ile) c.829A>T c.1961A>T (p.Lys654Ile) c.3089A>T (p.Lys1030Ile) c.4A>T c.3269A>T (p.Lys1090Ile) c.2936A>T (p.Lys979Ile) | |
| 7 | g.117611621A= | CA1737386813 | CFTR | c.3180A= (p.Lys1060=) c.*2894A= (n.*2894A=) c.2997A= (p.Lys999=) c.*1480A= (n.*1480A=) c.*3004A= (n.*3004A=) c.2754A= (p.Lys918=) c.771A= (p.Lys257=) c.830A= c.1962A= (p.Lys654=) c.3090A= (p.Lys1030=) c.5A= c.3270A= (p.Lys1090=) c.2937A= (p.Lys979=) | |
| 7 | g.117611621A>C | CA368991966 | CFTR | c.3180A>C (p.Lys1060Asn) c.*2894A>C (n.*2894A>C) c.2997A>C (p.Lys999Asn) c.*1480A>C (n.*1480A>C) c.*3004A>C (n.*3004A>C) c.2754A>C (p.Lys918Asn) c.771A>C (p.Lys257Asn) c.830A>C c.1962A>C (p.Lys654Asn) c.3090A>C (p.Lys1030Asn) c.5A>C c.3270A>C (p.Lys1090Asn) c.2937A>C (p.Lys979Asn) | dbSNP |
| 7 | g.117611621A>G | CA10576717 | CFTR | c.3180A>G (p.Lys1060=) c.*2894A>G (n.*2894A>G) c.2997A>G (p.Lys999=) c.*1480A>G (n.*1480A>G) c.*3004A>G (n.*3004A>G) c.2754A>G (p.Lys918=) c.771A>G (p.Lys257=) c.830A>G c.1962A>G (p.Lys654=) c.3090A>G (p.Lys1030=) c.5A>G c.3270A>G (p.Lys1090=) c.2937A>G (p.Lys979=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611621A>T | CA368991968 | CFTR | c.3180A>T (p.Lys1060Asn) c.*2894A>T (n.*2894A>T) c.2997A>T (p.Lys999Asn) c.*1480A>T (n.*1480A>T) c.*3004A>T (n.*3004A>T) c.2754A>T (p.Lys918Asn) c.771A>T (p.Lys257Asn) c.830A>T c.1962A>T (p.Lys654Asn) c.3090A>T (p.Lys1030Asn) c.5A>T c.3270A>T (p.Lys1090Asn) c.2937A>T (p.Lys979Asn) | |
| 7 | g.117611622G>A | CA368991973 | CFTR | c.3181G>A (p.Gly1061Arg) c.*2895G>A (n.*2895G>A) c.2998G>A (p.Gly1000Arg) c.*1481G>A (n.*1481G>A) c.*3005G>A (n.*3005G>A) c.2755G>A (p.Gly919Arg) c.772G>A (p.Gly258Arg) c.831G>A c.1963G>A (p.Gly655Arg) c.3091G>A (p.Gly1031Arg) c.6G>A c.3271G>A (p.Gly1091Arg) c.2938G>A (p.Gly980Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611622G>C | CA221023 | CFTR | c.3181G>C (p.Gly1061Arg) c.*2895G>C (n.*2895G>C) c.2998G>C (p.Gly1000Arg) c.*1481G>C (n.*1481G>C) c.*3005G>C (n.*3005G>C) c.2755G>C (p.Gly919Arg) c.772G>C (p.Gly258Arg) c.831G>C c.1963G>C (p.Gly655Arg) c.3091G>C (p.Gly1031Arg) c.6G>C c.3271G>C (p.Gly1091Arg) c.2938G>C (p.Gly980Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611622G= | CA1737386826 | CFTR | c.3181G= (p.Gly1061=) c.*2895G= (n.*2895G=) c.2998G= (p.Gly1000=) c.*1481G= (n.*1481G=) c.*3005G= (n.*3005G=) c.2755G= (p.Gly919=) c.772G= (p.Gly258=) c.831G= c.1963G= (p.Gly655=) c.3091G= (p.Gly1031=) c.6G= c.3271G= (p.Gly1091=) c.2938G= (p.Gly980=) | |
| 7 | g.117611622G>T | CA368991977 | CFTR | c.3181G>T (p.Gly1061Ter) c.*2895G>T (n.*2895G>T) c.2998G>T (p.Gly1000Ter) c.*1481G>T (n.*1481G>T) c.*3005G>T (n.*3005G>T) c.2755G>T (p.Gly919Ter) c.772G>T (p.Gly258Ter) c.831G>T c.1963G>T (p.Gly655Ter) c.3091G>T (p.Gly1031Ter) c.6G>T c.3271G>T (p.Gly1091Ter) c.2938G>T (p.Gly980Ter) | |
| 7 | g.117611626_117611632del | CA2573141588 | CFTR | c.3185_3191del (p.Leu1062HisfsTer19) c.*2899_*2905del (n.*2899_*2905del) c.3002_3008del (p.Leu1001HisfsTer19) c.*1485_*1491del (n.*1485_*1491del) c.*3009_*3015del (n.*3009_*3015del) c.2759_2765del (p.Leu920HisfsTer19) c.776_782del (p.Leu259HisfsTer19) c.835_841del c.1967_1973del (p.Leu656HisfsTer19) c.3095_3101del (p.Leu1032HisfsTer19) c.10_16del c.3275_3281del (p.Leu1092HisfsTer19) c.2942_2948del (p.Leu981HisfsTer19) | ClinVar dbSNP |
| 7 | g.117611623G>A | CA368991980 | CFTR | c.3182G>A (p.Gly1061Glu) c.*2896G>A (n.*2896G>A) c.2999G>A (p.Gly1000Glu) c.*1482G>A (n.*1482G>A) c.*3006G>A (n.*3006G>A) c.2756G>A (p.Gly919Glu) c.773G>A (p.Gly258Glu) c.832G>A c.1964G>A (p.Gly655Glu) c.3092G>A (p.Gly1031Glu) c.7G>A c.3272G>A (p.Gly1091Glu) c.2939G>A (p.Gly980Glu) | COSMIC |
| 7 | g.117611623G>C | CA368991983 | CFTR | c.3182G>C (p.Gly1061Ala) c.*2896G>C (n.*2896G>C) c.2999G>C (p.Gly1000Ala) c.*1482G>C (n.*1482G>C) c.*3006G>C (n.*3006G>C) c.2756G>C (p.Gly919Ala) c.773G>C (p.Gly258Ala) c.832G>C c.1964G>C (p.Gly655Ala) c.3092G>C (p.Gly1031Ala) c.7G>C c.3272G>C (p.Gly1091Ala) c.2939G>C (p.Gly980Ala) | |
| 7 | g.117611623G= | CA1737386834 | CFTR | c.3182G= (p.Gly1061=) c.*2896G= (n.*2896G=) c.2999G= (p.Gly1000=) c.*1482G= (n.*1482G=) c.*3006G= (n.*3006G=) c.2756G= (p.Gly919=) c.773G= (p.Gly258=) c.832G= c.1964G= (p.Gly655=) c.3092G= (p.Gly1031=) c.7G= c.3272G= (p.Gly1091=) c.2939G= (p.Gly980=) | |
| 7 | g.117611623G>T | CA368991985 | CFTR | c.3182G>T (p.Gly1061Val) c.*2896G>T (n.*2896G>T) c.2999G>T (p.Gly1000Val) c.*1482G>T (n.*1482G>T) c.*3006G>T (n.*3006G>T) c.2756G>T (p.Gly919Val) c.773G>T (p.Gly258Val) c.832G>T c.1964G>T (p.Gly655Val) c.3092G>T (p.Gly1031Val) c.7G>T c.3272G>T (p.Gly1091Val) c.2939G>T (p.Gly980Val) | dbSNP |
| 7 | g.117611624A= | CA1737386841 | CFTR | c.3183A= (p.Gly1061=) c.*2897A= (n.*2897A=) c.3000A= (p.Gly1000=) c.*1483A= (n.*1483A=) c.*3007A= (n.*3007A=) c.2757A= (p.Gly919=) c.774A= (p.Gly258=) c.833A= c.1965A= (p.Gly655=) c.3093A= (p.Gly1031=) c.8A= c.3273A= (p.Gly1091=) c.2940A= (p.Gly980=) | |
| 7 | g.117611624A>C | CA457229994 | CFTR | c.3183A>C (p.Gly1061=) c.*2897A>C (n.*2897A>C) c.3000A>C (p.Gly1000=) c.*1483A>C (n.*1483A>C) c.*3007A>C (n.*3007A>C) c.2757A>C (p.Gly919=) c.774A>C (p.Gly258=) c.833A>C c.1965A>C (p.Gly655=) c.3093A>C (p.Gly1031=) c.8A>C c.3273A>C (p.Gly1091=) c.2940A>C (p.Gly980=) | |
| 7 | g.117611624A>G | CA457229995 | CFTR | c.3183A>G (p.Gly1061=) c.*2897A>G (n.*2897A>G) c.3000A>G (p.Gly1000=) c.*1483A>G (n.*1483A>G) c.*3007A>G (n.*3007A>G) c.2757A>G (p.Gly919=) c.774A>G (p.Gly258=) c.833A>G c.1965A>G (p.Gly655=) c.3093A>G (p.Gly1031=) c.8A>G c.3273A>G (p.Gly1091=) c.2940A>G (p.Gly980=) | ClinVar dbSNP |
| 7 | g.117611624A>T | CA457229996 | CFTR | c.3183A>T (p.Gly1061=) c.*2897A>T (n.*2897A>T) c.3000A>T (p.Gly1000=) c.*1483A>T (n.*1483A>T) c.*3007A>T (n.*3007A>T) c.2757A>T (p.Gly919=) c.774A>T (p.Gly258=) c.833A>T c.1965A>T (p.Gly655=) c.3093A>T (p.Gly1031=) c.8A>T c.3273A>T (p.Gly1091=) c.2940A>T (p.Gly980=) | |
| 7 | g.117611625C>A | CA368991987 | CFTR | c.3184C>A (p.Leu1062Ile) c.*2898C>A (n.*2898C>A) c.3001C>A (p.Leu1001Ile) c.*1484C>A (n.*1484C>A) c.*3008C>A (n.*3008C>A) c.2758C>A (p.Leu920Ile) c.775C>A (p.Leu259Ile) c.834C>A c.1966C>A (p.Leu656Ile) c.3094C>A (p.Leu1032Ile) c.9C>A c.3274C>A (p.Leu1092Ile) c.2941C>A (p.Leu981Ile) | |
| 7 | g.117611625C>G | CA368991989 | CFTR | c.3184C>G (p.Leu1062Val) c.*2898C>G (n.*2898C>G) c.3001C>G (p.Leu1001Val) c.*1484C>G (n.*1484C>G) c.*3008C>G (n.*3008C>G) c.2758C>G (p.Leu920Val) c.775C>G (p.Leu259Val) c.834C>G c.1966C>G (p.Leu656Val) c.3094C>G (p.Leu1032Val) c.9C>G c.3274C>G (p.Leu1092Val) c.2941C>G (p.Leu981Val) | |
| 7 | g.117611625C>T | CA457229997 | CFTR | c.3184C>T (p.Leu1062=) c.*2898C>T (n.*2898C>T) c.3001C>T (p.Leu1001=) c.*1484C>T (n.*1484C>T) c.*3008C>T (n.*3008C>T) c.2758C>T (p.Leu920=) c.775C>T (p.Leu259=) c.834C>T c.1966C>T (p.Leu656=) c.3094C>T (p.Leu1032=) c.9C>T c.3274C>T (p.Leu1092=) c.2941C>T (p.Leu981=) | ClinVar |
| 7 | g.117611625_117611629dup | CA325557 | CFTR | c.3184_3188dup (p.Trp1063CysfsTer22) c.*2898_*2902dup (n.*2898_*2902dup) c.3001_3005dup (p.Trp1002CysfsTer22) c.*1484_*1488dup (n.*1484_*1488dup) c.*3008_*3012dup (n.*3008_*3012dup) c.2758_2762dup (p.Trp921CysfsTer22) c.775_779dup (p.Trp260CysfsTer22) c.834_838dup c.1966_1970dup (p.Trp657CysfsTer22) c.3094_3098dup (p.Trp1033CysfsTer22) c.9_13dup c.3274_3278dup (p.Trp1093CysfsTer22) c.2941_2945dup (p.Trp982CysfsTer22) | ClinVar dbSNP |
| 7 | g.117611626T>A | CA368991995 | CFTR | c.3185T>A (p.Leu1062Gln) c.*2899T>A (n.*2899T>A) c.3002T>A (p.Leu1001Gln) c.*1485T>A (n.*1485T>A) c.*3009T>A (n.*3009T>A) c.2759T>A (p.Leu920Gln) c.776T>A (p.Leu259Gln) c.835T>A c.1967T>A (p.Leu656Gln) c.3095T>A (p.Leu1032Gln) c.10T>A c.3275T>A (p.Leu1092Gln) c.2942T>A (p.Leu981Gln) | |
| 7 | g.117611626T>C | CA368991997 | CFTR | c.3185T>C (p.Leu1062Pro) c.*2899T>C (n.*2899T>C) c.3002T>C (p.Leu1001Pro) c.*1485T>C (n.*1485T>C) c.*3009T>C (n.*3009T>C) c.2759T>C (p.Leu920Pro) c.776T>C (p.Leu259Pro) c.835T>C c.1967T>C (p.Leu656Pro) c.3095T>C (p.Leu1032Pro) c.10T>C c.3275T>C (p.Leu1092Pro) c.2942T>C (p.Leu981Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611626T>G | CA368991993 | CFTR | c.3185T>G (p.Leu1062Arg) c.*2899T>G (n.*2899T>G) c.3002T>G (p.Leu1001Arg) c.*1485T>G (n.*1485T>G) c.*3009T>G (n.*3009T>G) c.2759T>G (p.Leu920Arg) c.776T>G (p.Leu259Arg) c.835T>G c.1967T>G (p.Leu656Arg) c.3095T>G (p.Leu1032Arg) c.10T>G c.3275T>G (p.Leu1092Arg) c.2942T>G (p.Leu981Arg) | |
| 7 | g.117611627A= | CA1737386855 | CFTR | c.3186A= (p.Leu1062=) c.*2900A= (n.*2900A=) c.3003A= (p.Leu1001=) c.*1486A= (n.*1486A=) c.*3010A= (n.*3010A=) c.2760A= (p.Leu920=) c.777A= (p.Leu259=) c.836A= c.1968A= (p.Leu656=) c.3096A= (p.Leu1032=) c.11A= c.3276A= (p.Leu1092=) c.2943A= (p.Leu981=) | |
| 7 | g.117611627A>C | CA457229998 | CFTR | c.3186A>C (p.Leu1062=) c.*2900A>C (n.*2900A>C) c.3003A>C (p.Leu1001=) c.*1486A>C (n.*1486A>C) c.*3010A>C (n.*3010A>C) c.2760A>C (p.Leu920=) c.777A>C (p.Leu259=) c.836A>C c.1968A>C (p.Leu656=) c.3096A>C (p.Leu1032=) c.11A>C c.3276A>C (p.Leu1092=) c.2943A>C (p.Leu981=) | |
| 7 | g.117611627A>G | CA457229999 | CFTR | c.3186A>G (p.Leu1062=) c.*2900A>G (n.*2900A>G) c.3003A>G (p.Leu1001=) c.*1486A>G (n.*1486A>G) c.*3010A>G (n.*3010A>G) c.2760A>G (p.Leu920=) c.777A>G (p.Leu259=) c.836A>G c.1968A>G (p.Leu656=) c.3096A>G (p.Leu1032=) c.11A>G c.3276A>G (p.Leu1092=) c.2943A>G (p.Leu981=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611627A>T | CA457230000 | CFTR | c.3186A>T (p.Leu1062=) c.*2900A>T (n.*2900A>T) c.3003A>T (p.Leu1001=) c.*1486A>T (n.*1486A>T) c.*3010A>T (n.*3010A>T) c.2760A>T (p.Leu920=) c.777A>T (p.Leu259=) c.836A>T c.1968A>T (p.Leu656=) c.3096A>T (p.Leu1032=) c.11A>T c.3276A>T (p.Leu1092=) c.2943A>T (p.Leu981=) | ClinVar |
| 7 | g.117611628T>A | CA368991999 | CFTR | c.3187T>A (p.Trp1063Arg) c.*2901T>A (n.*2901T>A) c.3004T>A (p.Trp1002Arg) c.*1487T>A (n.*1487T>A) c.*3011T>A (n.*3011T>A) c.2761T>A (p.Trp921Arg) c.778T>A (p.Trp260Arg) c.837T>A c.1969T>A (p.Trp657Arg) c.3097T>A (p.Trp1033Arg) c.12T>A c.3277T>A (p.Trp1093Arg) c.2944T>A (p.Trp982Arg) | |
| 7 | g.117611628T>C | CA368992001 | CFTR | c.3187T>C (p.Trp1063Arg) c.*2901T>C (n.*2901T>C) c.3004T>C (p.Trp1002Arg) c.*1487T>C (n.*1487T>C) c.*3011T>C (n.*3011T>C) c.2761T>C (p.Trp921Arg) c.778T>C (p.Trp260Arg) c.837T>C c.1969T>C (p.Trp657Arg) c.3097T>C (p.Trp1033Arg) c.12T>C c.3277T>C (p.Trp1093Arg) c.2944T>C (p.Trp982Arg) | gnomAD v4 |
| 7 | g.117611628T>G | CA368992004 | CFTR | c.3187T>G (p.Trp1063Gly) c.*2901T>G (n.*2901T>G) c.3004T>G (p.Trp1002Gly) c.*1487T>G (n.*1487T>G) c.*3011T>G (n.*3011T>G) c.2761T>G (p.Trp921Gly) c.778T>G (p.Trp260Gly) c.837T>G c.1969T>G (p.Trp657Gly) c.3097T>G (p.Trp1033Gly) c.12T>G c.3277T>G (p.Trp1093Gly) c.2944T>G (p.Trp982Gly) | |
| 7 | g.117611629G>A | CA368992007 | CFTR | c.3188G>A (p.Trp1063Ter) c.*2902G>A (n.*2902G>A) c.3005G>A (p.Trp1002Ter) c.*1488G>A (n.*1488G>A) c.*3012G>A (n.*3012G>A) c.2762G>A (p.Trp921Ter) c.779G>A (p.Trp260Ter) c.838G>A c.1970G>A (p.Trp657Ter) c.3098G>A (p.Trp1033Ter) c.13G>A c.3278G>A (p.Trp1093Ter) c.2945G>A (p.Trp982Ter) | ClinVar dbSNP |
| 7 | g.117611629G>C | CA368992009 | CFTR | c.3188G>C (p.Trp1063Ser) c.*2902G>C (n.*2902G>C) c.3005G>C (p.Trp1002Ser) c.*1488G>C (n.*1488G>C) c.*3012G>C (n.*3012G>C) c.2762G>C (p.Trp921Ser) c.779G>C (p.Trp260Ser) c.838G>C c.1970G>C (p.Trp657Ser) c.3098G>C (p.Trp1033Ser) c.13G>C c.3278G>C (p.Trp1093Ser) c.2945G>C (p.Trp982Ser) | |
| 7 | g.117611629G= | CA1737386867 | CFTR | c.3188G= (p.Trp1063=) c.*2902G= (n.*2902G=) c.3005G= (p.Trp1002=) c.*1488G= (n.*1488G=) c.*3012G= (n.*3012G=) c.2762G= (p.Trp921=) c.779G= (p.Trp260=) c.838G= c.1970G= (p.Trp657=) c.3098G= (p.Trp1033=) c.13G= c.3278G= (p.Trp1093=) c.2945G= (p.Trp982=) | |
| 7 | g.117611629G>T | CA368992011 | CFTR | c.3188G>T (p.Trp1063Leu) c.*2902G>T (n.*2902G>T) c.3005G>T (p.Trp1002Leu) c.*1488G>T (n.*1488G>T) c.*3012G>T (n.*3012G>T) c.2762G>T (p.Trp921Leu) c.779G>T (p.Trp260Leu) c.838G>T c.1970G>T (p.Trp657Leu) c.3098G>T (p.Trp1033Leu) c.13G>T c.3278G>T (p.Trp1093Leu) c.2945G>T (p.Trp982Leu) | |
| 7 | g.117611630del | CA2695208433 | CFTR | c.3189del (p.Trp1063Ter) c.*2903del (n.*2903del) c.3006del (p.Trp1002Ter) c.*1489del (n.*1489del) c.*3013del (n.*3013del) c.2763del (p.Trp921Ter) c.780del (p.Trp260Ter) c.839del c.1971del (p.Trp657Ter) c.3099del (p.Trp1033Ter) c.14del c.3279del (p.Trp1093Ter) c.2946del (p.Trp982Ter) | |
| 7 | g.117611630G>A | CA327080 | CFTR | c.3189G>A (p.Trp1063Ter) c.*2903G>A (n.*2903G>A) c.3006G>A (p.Trp1002Ter) c.*1489G>A (n.*1489G>A) c.*3013G>A (n.*3013G>A) c.2763G>A (p.Trp921Ter) c.780G>A (p.Trp260Ter) c.839G>A c.1971G>A (p.Trp657Ter) c.3099G>A (p.Trp1033Ter) c.14G>A c.3279G>A (p.Trp1093Ter) c.2946G>A (p.Trp982Ter) | ClinVar dbSNP |
| 7 | g.117611630G>C | CA368992012 | CFTR | c.3189G>C (p.Trp1063Cys) c.*2903G>C (n.*2903G>C) c.3006G>C (p.Trp1002Cys) c.*1489G>C (n.*1489G>C) c.*3013G>C (n.*3013G>C) c.2763G>C (p.Trp921Cys) c.780G>C (p.Trp260Cys) c.839G>C c.1971G>C (p.Trp657Cys) c.3099G>C (p.Trp1033Cys) c.14G>C c.3279G>C (p.Trp1093Cys) c.2946G>C (p.Trp982Cys) | |
| 7 | g.117611630G= | CA1737386877 | CFTR | c.3189G= (p.Trp1063=) c.*2903G= (n.*2903G=) c.3006G= (p.Trp1002=) c.*1489G= (n.*1489G=) c.*3013G= (n.*3013G=) c.2763G= (p.Trp921=) c.780G= (p.Trp260=) c.839G= c.1971G= (p.Trp657=) c.3099G= (p.Trp1033=) c.14G= c.3279G= (p.Trp1093=) c.2946G= (p.Trp982=) | |
| 7 | g.117611630G>T | CA368992015 | CFTR | c.3189G>T (p.Trp1063Cys) c.*2903G>T (n.*2903G>T) c.3006G>T (p.Trp1002Cys) c.*1489G>T (n.*1489G>T) c.*3013G>T (n.*3013G>T) c.2763G>T (p.Trp921Cys) c.780G>T (p.Trp260Cys) c.839G>T c.1971G>T (p.Trp657Cys) c.3099G>T (p.Trp1033Cys) c.14G>T c.3279G>T (p.Trp1093Cys) c.2946G>T (p.Trp982Cys) | gnomAD v4 |
| 7 | g.117611631A= | CA1737386881 | CFTR | c.3190A= (p.Thr1064=) c.*2904A= (n.*2904A=) c.3007A= (p.Thr1003=) c.*1490A= (n.*1490A=) c.*3014A= (n.*3014A=) c.2764A= (p.Thr922=) c.781A= (p.Thr261=) c.840A= c.1972A= (p.Thr658=) c.3100A= (p.Thr1034=) c.15A= c.3280A= (p.Thr1094=) c.2947A= (p.Thr983=) | |
| 7 | g.117611631A>C | CA368992017 | CFTR | c.3190A>C (p.Thr1064Pro) c.*2904A>C (n.*2904A>C) c.3007A>C (p.Thr1003Pro) c.*1490A>C (n.*1490A>C) c.*3014A>C (n.*3014A>C) c.2764A>C (p.Thr922Pro) c.781A>C (p.Thr261Pro) c.840A>C c.1972A>C (p.Thr658Pro) c.3100A>C (p.Thr1034Pro) c.15A>C c.3280A>C (p.Thr1094Pro) c.2947A>C (p.Thr983Pro) | |
| 7 | g.117611631A>G | CA368992019 | CFTR | c.3190A>G (p.Thr1064Ala) c.*2904A>G (n.*2904A>G) c.3007A>G (p.Thr1003Ala) c.*1490A>G (n.*1490A>G) c.*3014A>G (n.*3014A>G) c.2764A>G (p.Thr922Ala) c.781A>G (p.Thr261Ala) c.840A>G c.1972A>G (p.Thr658Ala) c.3100A>G (p.Thr1034Ala) c.15A>G c.3280A>G (p.Thr1094Ala) c.2947A>G (p.Thr983Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611631A>T | CA368992021 | CFTR | c.3190A>T (p.Thr1064Ser) c.*2904A>T (n.*2904A>T) c.3007A>T (p.Thr1003Ser) c.*1490A>T (n.*1490A>T) c.*3014A>T (n.*3014A>T) c.2764A>T (p.Thr922Ser) c.781A>T (p.Thr261Ser) c.840A>T c.1972A>T (p.Thr658Ser) c.3100A>T (p.Thr1034Ser) c.15A>T c.3280A>T (p.Thr1094Ser) c.2947A>T (p.Thr983Ser) | |
| 7 | g.117611633_117611717del | CA2697557585 | CFTR | c.3192_3276del (p.Leu1065CysfsTer9) c.*2906_*2990del (n.*2906_*2990del) c.3009_3093del (p.Leu1004CysfsTer9) c.*1492_*1576del (n.*1492_*1576del) c.*3016_*3100del (n.*3016_*3100del) c.2766_2850del (p.Leu923CysfsTer9) c.783_867del (p.Leu262CysfsTer9) c.842_926del c.1974_2058del (p.Leu659CysfsTer9) c.3102_3186del (p.Leu1035CysfsTer9) c.17_101del c.3282_3366del (p.Leu1095CysfsTer9) c.2949_3033del (p.Leu984CysfsTer9) | ClinVar |
| 7 | g.117611632C>A | CA368992027 | CFTR | c.3191C>A (p.Thr1064Lys) c.*2905C>A (n.*2905C>A) c.3008C>A (p.Thr1003Lys) c.*1491C>A (n.*1491C>A) c.*3015C>A (n.*3015C>A) c.2765C>A (p.Thr922Lys) c.782C>A (p.Thr261Lys) c.841C>A c.1973C>A (p.Thr658Lys) c.3101C>A (p.Thr1034Lys) c.16C>A c.3281C>A (p.Thr1094Lys) c.2948C>A (p.Thr983Lys) | |
| 7 | g.117611632C= | CA1737386885 | CFTR | c.3191C= (p.Thr1064=) c.*2905C= (n.*2905C=) c.3008C= (p.Thr1003=) c.*1491C= (n.*1491C=) c.*3015C= (n.*3015C=) c.2765C= (p.Thr922=) c.782C= (p.Thr261=) c.841C= c.1973C= (p.Thr658=) c.3101C= (p.Thr1034=) c.16C= c.3281C= (p.Thr1094=) c.2948C= (p.Thr983=) | |
| 7 | g.117611632C>G | CA368992024 | CFTR | c.3191C>G (p.Thr1064Arg) c.*2905C>G (n.*2905C>G) c.3008C>G (p.Thr1003Arg) c.*1491C>G (n.*1491C>G) c.*3015C>G (n.*3015C>G) c.2765C>G (p.Thr922Arg) c.782C>G (p.Thr261Arg) c.841C>G c.1973C>G (p.Thr658Arg) c.3101C>G (p.Thr1034Arg) c.16C>G c.3281C>G (p.Thr1094Arg) c.2948C>G (p.Thr983Arg) | |
| 7 | g.117611632C>T | CA368992026 | CFTR | c.3191C>T (p.Thr1064Ile) c.*2905C>T (n.*2905C>T) c.3008C>T (p.Thr1003Ile) c.*1491C>T (n.*1491C>T) c.*3015C>T (n.*3015C>T) c.2765C>T (p.Thr922Ile) c.782C>T (p.Thr261Ile) c.841C>T c.1973C>T (p.Thr658Ile) c.3101C>T (p.Thr1034Ile) c.16C>T c.3281C>T (p.Thr1094Ile) c.2948C>T (p.Thr983Ile) | |
| 7 | g.117611632_117611633insTTTTAAGCTTAAAAGG | CA915945437 | CFTR | c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065PhefsTer16) c.*2905_*2906insTTTTAAGCTTAAAAGG (n.*2905_*2906insTTTTAAGCTTAAAAGG) c.3008_3009insTTTTAAGCTTAAAAGG (p.Leu1004PhefsTer16) c.*1491_*1492insTTTTAAGCTTAAAAGG (n.*1491_*1492insTTTTAAGCTTAAAAGG) c.*3015_*3016insTTTTAAGCTTAAAAGG (n.*3015_*3016insTTTTAAGCTTAAAAGG) c.2765_2766insTTTTAAGCTTAAAAGG (p.Leu923PhefsTer16) c.782_783insTTTTAAGCTTAAAAGG (p.Leu262PhefsTer16) c.841_842insTTTTAAGCTTAAAAGG c.1973_1974insTTTTAAGCTTAAAAGG (p.Leu659PhefsTer16) c.3101_3102insTTTTAAGCTTAAAAGG (p.Leu1035PhefsTer16) c.16_17insTTTTAAGCTTAAAAGG c.3281_3282insTTTTAAGCTTAAAAGG (p.Leu1095PhefsTer16) c.2948_2949insTTTTAAGCTTAAAAGG (p.Leu984PhefsTer16) | ClinVar dbSNP |
| 7 | g.117611633A= | CA1737386889 | CFTR | c.3192A= (p.Thr1064=) c.*2906A= (n.*2906A=) c.3009A= (p.Thr1003=) c.*1492A= (n.*1492A=) c.*3016A= (n.*3016A=) c.2766A= (p.Thr922=) c.783A= (p.Thr261=) c.842A= c.1974A= (p.Thr658=) c.3102A= (p.Thr1034=) c.17A= c.3282A= (p.Thr1094=) c.2949A= (p.Thr983=) | |
| 7 | g.117611633A>C | CA457230001 | CFTR | c.3192A>C (p.Thr1064=) c.*2906A>C (n.*2906A>C) c.3009A>C (p.Thr1003=) c.*1492A>C (n.*1492A>C) c.*3016A>C (n.*3016A>C) c.2766A>C (p.Thr922=) c.783A>C (p.Thr261=) c.842A>C c.1974A>C (p.Thr658=) c.3102A>C (p.Thr1034=) c.17A>C c.3282A>C (p.Thr1094=) c.2949A>C (p.Thr983=) | dbSNP |
| 7 | g.117611633A>G | CA457230002 | CFTR | c.3192A>G (p.Thr1064=) c.*2906A>G (n.*2906A>G) c.3009A>G (p.Thr1003=) c.*1492A>G (n.*1492A>G) c.*3016A>G (n.*3016A>G) c.2766A>G (p.Thr922=) c.783A>G (p.Thr261=) c.842A>G c.1974A>G (p.Thr658=) c.3102A>G (p.Thr1034=) c.17A>G c.3282A>G (p.Thr1094=) c.2949A>G (p.Thr983=) | dbSNP gnomAD v4 |
| 7 | g.117611633A>T | CA457230003 | CFTR | c.3192A>T (p.Thr1064=) c.*2906A>T (n.*2906A>T) c.3009A>T (p.Thr1003=) c.*1492A>T (n.*1492A>T) c.*3016A>T (n.*3016A>T) c.2766A>T (p.Thr922=) c.783A>T (p.Thr261=) c.842A>T c.1974A>T (p.Thr658=) c.3102A>T (p.Thr1034=) c.17A>T c.3282A>T (p.Thr1094=) c.2949A>T (p.Thr983=) | ClinVar gnomAD v4 |
| 7 | g.117611634C>A | CA368992030 | CFTR | c.3193C>A (p.Leu1065Ile) c.*2907C>A (n.*2907C>A) c.3010C>A (p.Leu1004Ile) c.*1493C>A (n.*1493C>A) c.*3017C>A (n.*3017C>A) c.2767C>A (p.Leu923Ile) c.784C>A (p.Leu262Ile) c.843C>A c.1975C>A (p.Leu659Ile) c.3103C>A (p.Leu1035Ile) c.18C>A c.3283C>A (p.Leu1095Ile) c.2950C>A (p.Leu984Ile) | |
| 7 | g.117611634C= | CA1737386896 | CFTR | c.3193C= (p.Leu1065=) c.*2907C= (n.*2907C=) c.3010C= (p.Leu1004=) c.*1493C= (n.*1493C=) c.*3017C= (n.*3017C=) c.2767C= (p.Leu923=) c.784C= (p.Leu262=) c.843C= c.1975C= (p.Leu659=) c.3103C= (p.Leu1035=) c.18C= c.3283C= (p.Leu1095=) c.2950C= (p.Leu984=) | |
| 7 | g.117611634C>G | CA368992032 | CFTR | c.3193C>G (p.Leu1065Val) c.*2907C>G (n.*2907C>G) c.3010C>G (p.Leu1004Val) c.*1493C>G (n.*1493C>G) c.*3017C>G (n.*3017C>G) c.2767C>G (p.Leu923Val) c.784C>G (p.Leu262Val) c.843C>G c.1975C>G (p.Leu659Val) c.3103C>G (p.Leu1035Val) c.18C>G c.3283C>G (p.Leu1095Val) c.2950C>G (p.Leu984Val) | |
| 7 | g.117611634C>T | CA327082 | CFTR | c.3193C>T (p.Leu1065Phe) c.*2907C>T (n.*2907C>T) c.3010C>T (p.Leu1004Phe) c.*1493C>T (n.*1493C>T) c.*3017C>T (n.*3017C>T) c.2767C>T (p.Leu923Phe) c.784C>T (p.Leu262Phe) c.843C>T c.1975C>T (p.Leu659Phe) c.3103C>T (p.Leu1035Phe) c.18C>T c.3283C>T (p.Leu1095Phe) c.2950C>T (p.Leu984Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611635T>A | CA368992036 | CFTR | c.3194T>A (p.Leu1065His) c.*2908T>A (n.*2908T>A) c.3011T>A (p.Leu1004His) c.*1494T>A (n.*1494T>A) c.*3018T>A (n.*3018T>A) c.2768T>A (p.Leu923His) c.785T>A (p.Leu262His) c.844T>A c.1976T>A (p.Leu659His) c.3104T>A (p.Leu1035His) c.19T>A c.3284T>A (p.Leu1095His) c.2951T>A (p.Leu984His) | |
| 7 | g.117611635T>C | CA325596 | CFTR | c.3194T>C (p.Leu1065Pro) c.*2908T>C (n.*2908T>C) c.3011T>C (p.Leu1004Pro) c.*1494T>C (n.*1494T>C) c.*3018T>C (n.*3018T>C) c.2768T>C (p.Leu923Pro) c.785T>C (p.Leu262Pro) c.844T>C c.1976T>C (p.Leu659Pro) c.3104T>C (p.Leu1035Pro) c.19T>C c.3284T>C (p.Leu1095Pro) c.2951T>C (p.Leu984Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611635T>G | CA327084 | CFTR | c.3194T>G (p.Leu1065Arg) c.*2908T>G (n.*2908T>G) c.3011T>G (p.Leu1004Arg) c.*1494T>G (n.*1494T>G) c.*3018T>G (n.*3018T>G) c.2768T>G (p.Leu923Arg) c.785T>G (p.Leu262Arg) c.844T>G c.1976T>G (p.Leu659Arg) c.3104T>G (p.Leu1035Arg) c.19T>G c.3284T>G (p.Leu1095Arg) c.2951T>G (p.Leu984Arg) | ClinVar dbSNP |
| 7 | g.117611635T= | CA1737386915 | CFTR | c.3194T= (p.Leu1065=) c.*2908T= (n.*2908T=) c.3011T= (p.Leu1004=) c.*1494T= (n.*1494T=) c.*3018T= (n.*3018T=) c.2768T= (p.Leu923=) c.785T= (p.Leu262=) c.844T= c.1976T= (p.Leu659=) c.3104T= (p.Leu1035=) c.19T= c.3284T= (p.Leu1095=) c.2951T= (p.Leu984=) | |
| 7 | g.117611636T>A | CA457230004 | CFTR | c.3195T>A (p.Leu1065=) c.*2909T>A (n.*2909T>A) c.3012T>A (p.Leu1004=) c.*1495T>A (n.*1495T>A) c.*3019T>A (n.*3019T>A) c.2769T>A (p.Leu923=) c.786T>A (p.Leu262=) c.845T>A c.1977T>A (p.Leu659=) c.3105T>A (p.Leu1035=) c.20T>A c.3285T>A (p.Leu1095=) c.2952T>A (p.Leu984=) | |
| 7 | g.117611636T>C | CA457230005 | CFTR | c.3195T>C (p.Leu1065=) c.*2909T>C (n.*2909T>C) c.3012T>C (p.Leu1004=) c.*1495T>C (n.*1495T>C) c.*3019T>C (n.*3019T>C) c.2769T>C (p.Leu923=) c.786T>C (p.Leu262=) c.845T>C c.1977T>C (p.Leu659=) c.3105T>C (p.Leu1035=) c.20T>C c.3285T>C (p.Leu1095=) c.2952T>C (p.Leu984=) | |
| 7 | g.117611636T>G | CA457230006 | CFTR | c.3195T>G (p.Leu1065=) c.*2909T>G (n.*2909T>G) c.3012T>G (p.Leu1004=) c.*1495T>G (n.*1495T>G) c.*3019T>G (n.*3019T>G) c.2769T>G (p.Leu923=) c.786T>G (p.Leu262=) c.845T>G c.1977T>G (p.Leu659=) c.3105T>G (p.Leu1035=) c.20T>G c.3285T>G (p.Leu1095=) c.2952T>G (p.Leu984=) | gnomAD v4 |