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.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.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.117611712T>A | CA368992334 | CFTR | c.3271T>A (p.Leu1091Met) c.*2985T>A (n.*2985T>A) c.3088T>A (p.Leu1030Met) c.*1571T>A (n.*1571T>A) c.*3095T>A (n.*3095T>A) c.2845T>A (p.Leu949Met) c.19T>A (p.Leu7Met) c.862T>A (p.Leu288Met) c.921T>A c.2053T>A (p.Leu685Met) c.3181T>A (p.Leu1061Met) c.96T>A c.3361T>A (p.Leu1121Met) c.3028T>A (p.Leu1010Met) | |
| 7 | g.117611712T>C | CA457230054 | CFTR | c.3271T>C (p.Leu1091=) c.*2985T>C (n.*2985T>C) c.3088T>C (p.Leu1030=) c.*1571T>C (n.*1571T>C) c.*3095T>C (n.*3095T>C) c.2845T>C (p.Leu949=) c.19T>C (p.Leu7=) c.862T>C (p.Leu288=) c.921T>C c.2053T>C (p.Leu685=) c.3181T>C (p.Leu1061=) c.96T>C c.3361T>C (p.Leu1121=) c.3028T>C (p.Leu1010=) | |
| 7 | g.117611712T>G | CA368992335 | CFTR | c.3271T>G (p.Leu1091Val) c.*2985T>G (n.*2985T>G) c.3088T>G (p.Leu1030Val) c.*1571T>G (n.*1571T>G) c.*3095T>G (n.*3095T>G) c.2845T>G (p.Leu949Val) c.19T>G (p.Leu7Val) c.862T>G (p.Leu288Val) c.921T>G c.2053T>G (p.Leu685Val) c.3181T>G (p.Leu1061Val) c.96T>G c.3361T>G (p.Leu1121Val) c.3028T>G (p.Leu1010Val) | |
| 7 | g.117611713T>A | CA368992337 | CFTR | c.3272T>A (p.Leu1091Ter) c.*2986T>A (n.*2986T>A) c.3089T>A (p.Leu1030Ter) c.*1572T>A (n.*1572T>A) c.*3096T>A (n.*3096T>A) c.2846T>A (p.Leu949Ter) c.20T>A (p.Leu7Ter) c.863T>A (p.Leu288Ter) c.922T>A c.2054T>A (p.Leu685Ter) c.3182T>A (p.Leu1061Ter) c.97T>A c.3362T>A (p.Leu1121Ter) c.3029T>A (p.Leu1010Ter) | |
| 7 | g.117611713T>C | CA368992338 | CFTR | c.3272T>C (p.Leu1091Ser) c.*2986T>C (n.*2986T>C) c.3089T>C (p.Leu1030Ser) c.*1572T>C (n.*1572T>C) c.*3096T>C (n.*3096T>C) c.2846T>C (p.Leu949Ser) c.20T>C (p.Leu7Ser) c.863T>C (p.Leu288Ser) c.922T>C c.2054T>C (p.Leu685Ser) c.3182T>C (p.Leu1061Ser) c.97T>C c.3362T>C (p.Leu1121Ser) c.3029T>C (p.Leu1010Ser) | |
| 7 | g.117611713T>G | CA368992341 | CFTR | c.3272T>G (p.Leu1091Trp) c.*2986T>G (n.*2986T>G) c.3089T>G (p.Leu1030Trp) c.*1572T>G (n.*1572T>G) c.*3096T>G (n.*3096T>G) c.2846T>G (p.Leu949Trp) c.20T>G (p.Leu7Trp) c.863T>G (p.Leu288Trp) c.922T>G c.2054T>G (p.Leu685Trp) c.3182T>G (p.Leu1061Trp) c.97T>G c.3362T>G (p.Leu1121Trp) c.3029T>G (p.Leu1010Trp) | |
| 7 | g.117611714G>A | CA457230055 | CFTR | c.3273G>A (p.Leu1091=) c.*2987G>A (n.*2987G>A) c.3090G>A (p.Leu1030=) c.*1573G>A (n.*1573G>A) c.*3097G>A (n.*3097G>A) c.2847G>A (p.Leu949=) c.21G>A (p.Leu7=) c.864G>A (p.Leu288=) c.923G>A c.2055G>A (p.Leu685=) c.3183G>A (p.Leu1061=) c.98G>A c.3363G>A (p.Leu1121=) c.3030G>A (p.Leu1010=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611714G>C | CA4451414 | CFTR | c.3273G>C (p.Leu1091Phe) c.*2987G>C (n.*2987G>C) c.3090G>C (p.Leu1030Phe) c.*1573G>C (n.*1573G>C) c.*3097G>C (n.*3097G>C) c.2847G>C (p.Leu949Phe) c.21G>C (p.Leu7Phe) c.864G>C (p.Leu288Phe) c.923G>C c.2055G>C (p.Leu685Phe) c.3183G>C (p.Leu1061Phe) c.98G>C c.3363G>C (p.Leu1121Phe) c.3030G>C (p.Leu1010Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611714G= | CA1737387266 | CFTR | c.3273G= (p.Leu1091=) c.*2987G= (n.*2987G=) c.3090G= (p.Leu1030=) c.*1573G= (n.*1573G=) c.*3097G= (n.*3097G=) c.2847G= (p.Leu949=) c.21G= (p.Leu7=) c.864G= (p.Leu288=) c.923G= c.2055G= (p.Leu685=) c.3183G= (p.Leu1061=) c.98G= c.3363G= (p.Leu1121=) c.3030G= (p.Leu1010=) | |
| 7 | g.117611714G>T | CA368992343 | CFTR | c.3273G>T (p.Leu1091Phe) c.*2987G>T (n.*2987G>T) c.3090G>T (p.Leu1030Phe) c.*1573G>T (n.*1573G>T) c.*3097G>T (n.*3097G>T) c.2847G>T (p.Leu949Phe) c.21G>T (p.Leu7Phe) c.864G>T (p.Leu288Phe) c.923G>T c.2055G>T (p.Leu685Phe) c.3183G>T (p.Leu1061Phe) c.98G>T c.3363G>T (p.Leu1121Phe) c.3030G>T (p.Leu1010Phe) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611715T>A | CA368992345 | CFTR | c.3274T>A (p.Tyr1092Asn) c.*2988T>A (n.*2988T>A) c.3091T>A (p.Tyr1031Asn) c.*1574T>A (n.*1574T>A) c.*3098T>A (n.*3098T>A) c.2848T>A (p.Tyr950Asn) c.22T>A (p.Tyr8Asn) c.865T>A (p.Tyr289Asn) c.924T>A c.2056T>A (p.Tyr686Asn) c.3184T>A (p.Tyr1062Asn) c.99T>A c.3364T>A (p.Tyr1122Asn) c.3031T>A (p.Tyr1011Asn) | |
| 7 | g.117611715T>C | CA4451415 | CFTR | c.3274T>C (p.Tyr1092His) c.*2988T>C (n.*2988T>C) c.3091T>C (p.Tyr1031His) c.*1574T>C (n.*1574T>C) c.*3098T>C (n.*3098T>C) c.2848T>C (p.Tyr950His) c.22T>C (p.Tyr8His) c.865T>C (p.Tyr289His) c.924T>C c.2056T>C (p.Tyr686His) c.3184T>C (p.Tyr1062His) c.99T>C c.3364T>C (p.Tyr1122His) c.3031T>C (p.Tyr1011His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611715T>G | CA368992347 | CFTR | c.3274T>G (p.Tyr1092Asp) c.*2988T>G (n.*2988T>G) c.3091T>G (p.Tyr1031Asp) c.*1574T>G (n.*1574T>G) c.*3098T>G (n.*3098T>G) c.2848T>G (p.Tyr950Asp) c.22T>G (p.Tyr8Asp) c.865T>G (p.Tyr289Asp) c.924T>G c.2056T>G (p.Tyr686Asp) c.3184T>G (p.Tyr1062Asp) c.99T>G c.3364T>G (p.Tyr1122Asp) c.3031T>G (p.Tyr1011Asp) | |
| 7 | g.117611715T= | CA1737387275 | CFTR | c.3274T= (p.Tyr1092=) c.*2988T= (n.*2988T=) c.3091T= (p.Tyr1031=) c.*1574T= (n.*1574T=) c.*3098T= (n.*3098T=) c.2848T= (p.Tyr950=) c.22T= (p.Tyr8=) c.865T= (p.Tyr289=) c.924T= c.2056T= (p.Tyr686=) c.3184T= (p.Tyr1062=) c.99T= c.3364T= (p.Tyr1122=) c.3031T= (p.Tyr1011=) | |
| 7 | g.117611716A= | CA1737387289 | CFTR | c.3275A= (p.Tyr1092=) c.*2989A= (n.*2989A=) c.3092A= (p.Tyr1031=) c.*1575A= (n.*1575A=) c.*3099A= (n.*3099A=) c.2849A= (p.Tyr950=) c.23A= (p.Tyr8=) c.866A= (p.Tyr289=) c.925A= c.2057A= (p.Tyr686=) c.3185A= (p.Tyr1062=) c.100A= c.3365A= (p.Tyr1122=) c.3032A= (p.Tyr1011=) | |
| 7 | g.117611716A>C | CA368992349 | CFTR | c.3275A>C (p.Tyr1092Ser) c.*2989A>C (n.*2989A>C) c.3092A>C (p.Tyr1031Ser) c.*1575A>C (n.*1575A>C) c.*3099A>C (n.*3099A>C) c.2849A>C (p.Tyr950Ser) c.23A>C (p.Tyr8Ser) c.866A>C (p.Tyr289Ser) c.925A>C c.2057A>C (p.Tyr686Ser) c.3185A>C (p.Tyr1062Ser) c.100A>C c.3365A>C (p.Tyr1122Ser) c.3032A>C (p.Tyr1011Ser) | |
| 7 | g.117611716A>G | CA4451416 | CFTR | c.3275A>G (p.Tyr1092Cys) c.*2989A>G (n.*2989A>G) c.3092A>G (p.Tyr1031Cys) c.*1575A>G (n.*1575A>G) c.*3099A>G (n.*3099A>G) c.2849A>G (p.Tyr950Cys) c.23A>G (p.Tyr8Cys) c.866A>G (p.Tyr289Cys) c.925A>G c.2057A>G (p.Tyr686Cys) c.3185A>G (p.Tyr1062Cys) c.100A>G c.3365A>G (p.Tyr1122Cys) c.3032A>G (p.Tyr1011Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611716A>T | CA368992351 | CFTR | c.3275A>T (p.Tyr1092Phe) c.*2989A>T (n.*2989A>T) c.3092A>T (p.Tyr1031Phe) c.*1575A>T (n.*1575A>T) c.*3099A>T (n.*3099A>T) c.2849A>T (p.Tyr950Phe) c.23A>T (p.Tyr8Phe) c.866A>T (p.Tyr289Phe) c.925A>T c.2057A>T (p.Tyr686Phe) c.3185A>T (p.Tyr1062Phe) c.100A>T c.3365A>T (p.Tyr1122Phe) c.3032A>T (p.Tyr1011Phe) | |
| 7 | g.117611717C>A | CA269813 | CFTR | c.3276C>A (p.Tyr1092Ter) c.*2990C>A (n.*2990C>A) c.3093C>A (p.Tyr1031Ter) c.*1576C>A (n.*1576C>A) c.*3100C>A (n.*3100C>A) c.2850C>A (p.Tyr950Ter) c.24C>A (p.Tyr8Ter) c.867C>A (p.Tyr289Ter) c.926C>A c.2058C>A (p.Tyr686Ter) c.3186C>A (p.Tyr1062Ter) c.101C>A c.3366C>A (p.Tyr1122Ter) c.3033C>A (p.Tyr1011Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117611717C= | CA1737387303 | CFTR | c.3276C= (p.Tyr1092=) c.*2990C= (n.*2990C=) c.3093C= (p.Tyr1031=) c.*1576C= (n.*1576C=) c.*3100C= (n.*3100C=) c.2850C= (p.Tyr950=) c.24C= (p.Tyr8=) c.867C= (p.Tyr289=) c.926C= c.2058C= (p.Tyr686=) c.3186C= (p.Tyr1062=) c.101C= c.3366C= (p.Tyr1122=) c.3033C= (p.Tyr1011=) | |
| 7 | g.117611717C>G | CA269811 | CFTR | c.3276C>G (p.Tyr1092Ter) c.*2990C>G (n.*2990C>G) c.3093C>G (p.Tyr1031Ter) c.*1576C>G (n.*1576C>G) c.*3100C>G (n.*3100C>G) c.2850C>G (p.Tyr950Ter) c.24C>G (p.Tyr8Ter) c.867C>G (p.Tyr289Ter) c.926C>G c.2058C>G (p.Tyr686Ter) c.3186C>G (p.Tyr1062Ter) c.101C>G c.3366C>G (p.Tyr1122Ter) c.3033C>G (p.Tyr1011Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611717C>T | CA457230056 | CFTR | c.3276C>T (p.Tyr1092=) c.*2990C>T (n.*2990C>T) c.3093C>T (p.Tyr1031=) c.*1576C>T (n.*1576C>T) c.*3100C>T (n.*3100C>T) c.2850C>T (p.Tyr950=) c.24C>T (p.Tyr8=) c.867C>T (p.Tyr289=) c.926C>T c.2058C>T (p.Tyr686=) c.3186C>T (p.Tyr1062=) c.101C>T c.3366C>T (p.Tyr1122=) c.3033C>T (p.Tyr1011=) | dbSNP gnomAD v4 |
| 7 | g.117611718C>A | CA368992353 | CFTR | c.3277C>A (p.Leu1093Met) c.*2991C>A (n.*2991C>A) c.3094C>A (p.Leu1032Met) c.*1577C>A (n.*1577C>A) c.*3101C>A (n.*3101C>A) c.2851C>A (p.Leu951Met) c.25C>A (p.Leu9Met) c.868C>A (p.Leu290Met) c.927C>A c.2059C>A (p.Leu687Met) c.3187C>A (p.Leu1063Met) c.102C>A c.3367C>A (p.Leu1123Met) c.3034C>A (p.Leu1012Met) | gnomAD v4 |
| 7 | g.117611718C>G | CA368992354 | CFTR | c.3277C>G (p.Leu1093Val) c.*2991C>G (n.*2991C>G) c.3094C>G (p.Leu1032Val) c.*1577C>G (n.*1577C>G) c.*3101C>G (n.*3101C>G) c.2851C>G (p.Leu951Val) c.25C>G (p.Leu9Val) c.868C>G (p.Leu290Val) c.927C>G c.2059C>G (p.Leu687Val) c.3187C>G (p.Leu1063Val) c.102C>G c.3367C>G (p.Leu1123Val) c.3034C>G (p.Leu1012Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611718C>T | CA457230057 | CFTR | c.3277C>T (p.Leu1093=) c.*2991C>T (n.*2991C>T) c.3094C>T (p.Leu1032=) c.*1577C>T (n.*1577C>T) c.*3101C>T (n.*3101C>T) c.2851C>T (p.Leu951=) c.25C>T (p.Leu9=) c.868C>T (p.Leu290=) c.927C>T c.2059C>T (p.Leu687=) c.3187C>T (p.Leu1063=) c.102C>T c.3367C>T (p.Leu1123=) c.3034C>T (p.Leu1012=) | |
| 7 | g.117611719T>A | CA368992356 | CFTR | c.3278T>A (p.Leu1093Gln) c.*2992T>A (n.*2992T>A) c.3095T>A (p.Leu1032Gln) c.*1578T>A (n.*1578T>A) c.*3102T>A (n.*3102T>A) c.2852T>A (p.Leu951Gln) c.26T>A (p.Leu9Gln) c.869T>A (p.Leu290Gln) c.928T>A c.2060T>A (p.Leu687Gln) c.3188T>A (p.Leu1063Gln) c.103T>A c.3368T>A (p.Leu1123Gln) c.3035T>A (p.Leu1012Gln) | |
| 7 | g.117611719T>C | CA327121 | CFTR | c.3278T>C (p.Leu1093Pro) c.*2992T>C (n.*2992T>C) c.3095T>C (p.Leu1032Pro) c.*1578T>C (n.*1578T>C) c.*3102T>C (n.*3102T>C) c.2852T>C (p.Leu951Pro) c.26T>C (p.Leu9Pro) c.869T>C (p.Leu290Pro) c.928T>C c.2060T>C (p.Leu687Pro) c.3188T>C (p.Leu1063Pro) c.103T>C c.3368T>C (p.Leu1123Pro) c.3035T>C (p.Leu1012Pro) | ClinVar dbSNP |
| 7 | g.117611719T>G | CA368992357 | CFTR | c.3278T>G (p.Leu1093Arg) c.*2992T>G (n.*2992T>G) c.3095T>G (p.Leu1032Arg) c.*1578T>G (n.*1578T>G) c.*3102T>G (n.*3102T>G) c.2852T>G (p.Leu951Arg) c.26T>G (p.Leu9Arg) c.869T>G (p.Leu290Arg) c.928T>G c.2060T>G (p.Leu687Arg) c.3188T>G (p.Leu1063Arg) c.103T>G c.3368T>G (p.Leu1123Arg) c.3035T>G (p.Leu1012Arg) | |
| 7 | g.117611719T= | CA1737387311 | CFTR | c.3278T= (p.Leu1093=) c.*2992T= (n.*2992T=) c.3095T= (p.Leu1032=) c.*1578T= (n.*1578T=) c.*3102T= (n.*3102T=) c.2852T= (p.Leu951=) c.26T= (p.Leu9=) c.869T= (p.Leu290=) c.928T= c.2060T= (p.Leu687=) c.3188T= (p.Leu1063=) c.103T= c.3368T= (p.Leu1123=) c.3035T= (p.Leu1012=) | |
| 7 | g.117611720G>A | CA457230058 | CFTR | c.3279G>A (p.Leu1093=) c.*2993G>A (n.*2993G>A) c.3096G>A (p.Leu1032=) c.*1579G>A (n.*1579G>A) c.*3103G>A (n.*3103G>A) c.2853G>A (p.Leu951=) c.27G>A (p.Leu9=) c.870G>A (p.Leu290=) c.929G>A c.2061G>A (p.Leu687=) c.3189G>A (p.Leu1063=) c.104G>A c.3369G>A (p.Leu1123=) c.3036G>A (p.Leu1012=) | |
| 7 | g.117611720G>C | CA457230060 | CFTR | c.3279G>C (p.Leu1093=) c.*2993G>C (n.*2993G>C) c.3096G>C (p.Leu1032=) c.*1579G>C (n.*1579G>C) c.*3103G>C (n.*3103G>C) c.2853G>C (p.Leu951=) c.27G>C (p.Leu9=) c.870G>C (p.Leu290=) c.929G>C c.2061G>C (p.Leu687=) c.3189G>C (p.Leu1063=) c.104G>C c.3369G>C (p.Leu1123=) c.3036G>C (p.Leu1012=) | |
| 7 | g.117611720G>T | CA457230059 | CFTR | c.3279G>T (p.Leu1093=) c.*2993G>T (n.*2993G>T) c.3096G>T (p.Leu1032=) c.*1579G>T (n.*1579G>T) c.*3103G>T (n.*3103G>T) c.2853G>T (p.Leu951=) c.27G>T (p.Leu9=) c.870G>T (p.Leu290=) c.929G>T c.2061G>T (p.Leu687=) c.3189G>T (p.Leu1063=) c.104G>T c.3369G>T (p.Leu1123=) c.3036G>T (p.Leu1012=) | ClinVar |
| 7 | g.117611721T>A | CA368992360 | CFTR | c.3280T>A (p.Ser1094Thr) c.*2994T>A (n.*2994T>A) c.3097T>A (p.Ser1033Thr) c.*1580T>A (n.*1580T>A) c.*3104T>A (n.*3104T>A) c.2854T>A (p.Ser952Thr) c.28T>A (p.Ser10Thr) c.871T>A (p.Ser291Thr) c.930T>A c.2062T>A (p.Ser688Thr) c.3190T>A (p.Ser1064Thr) c.105T>A c.3370T>A (p.Ser1124Thr) c.3037T>A (p.Ser1013Thr) | |
| 7 | g.117611721T>C | CA368992363 | CFTR | c.3280T>C (p.Ser1094Pro) c.*2994T>C (n.*2994T>C) c.3097T>C (p.Ser1033Pro) c.*1580T>C (n.*1580T>C) c.*3104T>C (n.*3104T>C) c.2854T>C (p.Ser952Pro) c.28T>C (p.Ser10Pro) c.871T>C (p.Ser291Pro) c.930T>C c.2062T>C (p.Ser688Pro) c.3190T>C (p.Ser1064Pro) c.105T>C c.3370T>C (p.Ser1124Pro) c.3037T>C (p.Ser1013Pro) | ClinVar |
| 7 | g.117611721T>G | CA368992361 | CFTR | c.3280T>G (p.Ser1094Ala) c.*2994T>G (n.*2994T>G) c.3097T>G (p.Ser1033Ala) c.*1580T>G (n.*1580T>G) c.*3104T>G (n.*3104T>G) c.2854T>G (p.Ser952Ala) c.28T>G (p.Ser10Ala) c.871T>G (p.Ser291Ala) c.930T>G c.2062T>G (p.Ser688Ala) c.3190T>G (p.Ser1064Ala) c.105T>G c.3370T>G (p.Ser1124Ala) c.3037T>G (p.Ser1013Ala) | |
| 7 | g.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC | CA1737387315 | CFTR | c.3280_3367+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*2994_*3081+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3097_3184+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*1580_*1667+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*3104_*3191+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.2854_2941+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.28_115+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.871_958+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.930_1017+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.2062_2149+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3190_3277+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.105_192+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3370_3457+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3037_3124+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC | |
| 7 | g.117611722C>A | CA368992366 | CFTR | c.3281C>A (p.Ser1094Ter) c.*2995C>A (n.*2995C>A) c.3098C>A (p.Ser1033Ter) c.*1581C>A (n.*1581C>A) c.*3105C>A (n.*3105C>A) c.2855C>A (p.Ser952Ter) c.29C>A (p.Ser10Ter) c.872C>A (p.Ser291Ter) c.931C>A c.2063C>A (p.Ser688Ter) c.3191C>A (p.Ser1064Ter) c.106C>A c.3371C>A (p.Ser1124Ter) c.3038C>A (p.Ser1013Ter) | |
| 7 | g.117611722C>G | CA368992368 | CFTR | c.3281C>G (p.Ser1094Ter) c.*2995C>G (n.*2995C>G) c.3098C>G (p.Ser1033Ter) c.*1581C>G (n.*1581C>G) c.*3105C>G (n.*3105C>G) c.2855C>G (p.Ser952Ter) c.29C>G (p.Ser10Ter) c.872C>G (p.Ser291Ter) c.931C>G c.2063C>G (p.Ser688Ter) c.3191C>G (p.Ser1064Ter) c.106C>G c.3371C>G (p.Ser1124Ter) c.3038C>G (p.Ser1013Ter) | ClinVar |