| 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) | |
| 7 | g.117611651G>A | CA457230016 | CFTR | c.3210G>A (p.Arg1070=) c.*2924G>A (n.*2924G>A) c.3027G>A (p.Arg1009=) c.*1510G>A (n.*1510G>A) c.*3034G>A (n.*3034G>A) c.2784G>A (p.Arg928=) c.801G>A (p.Arg267=) c.860G>A c.1992G>A (p.Arg664=) c.3120G>A (p.Arg1040=) c.35G>A c.3300G>A (p.Arg1100=) c.2967G>A (p.Arg989=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611651G>C | CA457230017 | CFTR | c.3210G>C (p.Arg1070=) c.*2924G>C (n.*2924G>C) c.3027G>C (p.Arg1009=) c.*1510G>C (n.*1510G>C) c.*3034G>C (n.*3034G>C) c.2784G>C (p.Arg928=) c.801G>C (p.Arg267=) c.860G>C c.1992G>C (p.Arg664=) c.3120G>C (p.Arg1040=) c.35G>C c.3300G>C (p.Arg1100=) c.2967G>C (p.Arg989=) | |
| 7 | g.117611651G= | CA1737387026 | CFTR | c.3210G= (p.Arg1070=) c.*2924G= (n.*2924G=) c.3027G= (p.Arg1009=) c.*1510G= (n.*1510G=) c.*3034G= (n.*3034G=) c.2784G= (p.Arg928=) c.801G= (p.Arg267=) c.860G= c.1992G= (p.Arg664=) c.3120G= (p.Arg1040=) c.35G= c.3300G= (p.Arg1100=) c.2967G= (p.Arg989=) | |
| 7 | g.117611651G>T | CA457230018 | CFTR | c.3210G>T (p.Arg1070=) c.*2924G>T (n.*2924G>T) c.3027G>T (p.Arg1009=) c.*1510G>T (n.*1510G>T) c.*3034G>T (n.*3034G>T) c.2784G>T (p.Arg928=) c.801G>T (p.Arg267=) c.860G>T c.1992G>T (p.Arg664=) c.3120G>T (p.Arg1040=) c.35G>T c.3300G>T (p.Arg1100=) c.2967G>T (p.Arg989=) | dbSNP |
| 7 | g.117611652C>A | CA368992094 | CFTR | c.3211C>A (p.Gln1071Lys) c.*2925C>A (n.*2925C>A) c.3028C>A (p.Gln1010Lys) c.*1511C>A (n.*1511C>A) c.*3035C>A (n.*3035C>A) c.2785C>A (p.Gln929Lys) c.802C>A (p.Gln268Lys) c.861C>A c.1993C>A (p.Gln665Lys) c.3121C>A (p.Gln1041Lys) c.36C>A c.3301C>A (p.Gln1101Lys) c.2968C>A (p.Gln990Lys) | |
| 7 | g.117611652C= | CA1737387030 | CFTR | c.3211C= (p.Gln1071=) c.*2925C= (n.*2925C=) c.3028C= (p.Gln1010=) c.*1511C= (n.*1511C=) c.*3035C= (n.*3035C=) c.2785C= (p.Gln929=) c.802C= (p.Gln268=) c.861C= c.1993C= (p.Gln665=) c.3121C= (p.Gln1041=) c.36C= c.3301C= (p.Gln1101=) c.2968C= (p.Gln990=) | |
| 7 | g.117611652C>G | CA368992095 | CFTR | c.3211C>G (p.Gln1071Glu) c.*2925C>G (n.*2925C>G) c.3028C>G (p.Gln1010Glu) c.*1511C>G (n.*1511C>G) c.*3035C>G (n.*3035C>G) c.2785C>G (p.Gln929Glu) c.802C>G (p.Gln268Glu) c.861C>G c.1993C>G (p.Gln665Glu) c.3121C>G (p.Gln1041Glu) c.36C>G c.3301C>G (p.Gln1101Glu) c.2968C>G (p.Gln990Glu) | |
| 7 | g.117611652C>T | CA327101 | CFTR | c.3211C>T (p.Gln1071Ter) c.*2925C>T (n.*2925C>T) c.3028C>T (p.Gln1010Ter) c.*1511C>T (n.*1511C>T) c.*3035C>T (n.*3035C>T) c.2785C>T (p.Gln929Ter) c.802C>T (p.Gln268Ter) c.861C>T c.1993C>T (p.Gln665Ter) c.3121C>T (p.Gln1041Ter) c.36C>T c.3301C>T (p.Gln1101Ter) c.2968C>T (p.Gln990Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117611653A= | CA1737387041 | CFTR | c.3212A= (p.Gln1071=) c.*2926A= (n.*2926A=) c.3029A= (p.Gln1010=) c.*1512A= (n.*1512A=) c.*3036A= (n.*3036A=) c.2786A= (p.Gln929=) c.803A= (p.Gln268=) c.862A= c.1994A= (p.Gln665=) c.3122A= (p.Gln1041=) c.37A= c.3302A= (p.Gln1101=) c.2969A= (p.Gln990=) | |
| 7 | g.117611653A>C | CA325597 | CFTR | c.3212A>C (p.Gln1071Pro) c.*2926A>C (n.*2926A>C) c.3029A>C (p.Gln1010Pro) c.*1512A>C (n.*1512A>C) c.*3036A>C (n.*3036A>C) c.2786A>C (p.Gln929Pro) c.803A>C (p.Gln268Pro) c.862A>C c.1994A>C (p.Gln665Pro) c.3122A>C (p.Gln1041Pro) c.37A>C c.3302A>C (p.Gln1101Pro) c.2969A>C (p.Gln990Pro) | ClinVar dbSNP |
| 7 | g.117611653A>G | CA368992101 | CFTR | c.3212A>G (p.Gln1071Arg) c.*2926A>G (n.*2926A>G) c.3029A>G (p.Gln1010Arg) c.*1512A>G (n.*1512A>G) c.*3036A>G (n.*3036A>G) c.2786A>G (p.Gln929Arg) c.803A>G (p.Gln268Arg) c.862A>G c.1994A>G (p.Gln665Arg) c.3122A>G (p.Gln1041Arg) c.37A>G c.3302A>G (p.Gln1101Arg) c.2969A>G (p.Gln990Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611653A>T | CA368992099 | CFTR | c.3212A>T (p.Gln1071Leu) c.*2926A>T (n.*2926A>T) c.3029A>T (p.Gln1010Leu) c.*1512A>T (n.*1512A>T) c.*3036A>T (n.*3036A>T) c.2786A>T (p.Gln929Leu) c.803A>T (p.Gln268Leu) c.862A>T c.1994A>T (p.Gln665Leu) c.3122A>T (p.Gln1041Leu) c.37A>T c.3302A>T (p.Gln1101Leu) c.2969A>T (p.Gln990Leu) | |
| 7 | g.117611654G>A | CA457230019 | CFTR | c.3213G>A (p.Gln1071=) c.*2927G>A (n.*2927G>A) c.3030G>A (p.Gln1010=) c.*1513G>A (n.*1513G>A) c.*3037G>A (n.*3037G>A) c.2787G>A (p.Gln929=) c.804G>A (p.Gln268=) c.863G>A c.1995G>A (p.Gln665=) c.3123G>A (p.Gln1041=) c.38G>A c.3303G>A (p.Gln1101=) c.2970G>A (p.Gln990=) | gnomAD v4 |
| 7 | g.117611654G>C | CA368992102 | CFTR | c.3213G>C (p.Gln1071His) c.*2927G>C (n.*2927G>C) c.3030G>C (p.Gln1010His) c.*1513G>C (n.*1513G>C) c.*3037G>C (n.*3037G>C) c.2787G>C (p.Gln929His) c.804G>C (p.Gln268His) c.863G>C c.1995G>C (p.Gln665His) c.3123G>C (p.Gln1041His) c.38G>C c.3303G>C (p.Gln1101His) c.2970G>C (p.Gln990His) | |
| 7 | g.117611654G>T | CA368992104 | CFTR | c.3213G>T (p.Gln1071His) c.*2927G>T (n.*2927G>T) c.3030G>T (p.Gln1010His) c.*1513G>T (n.*1513G>T) c.*3037G>T (n.*3037G>T) c.2787G>T (p.Gln929His) c.804G>T (p.Gln268His) c.863G>T c.1995G>T (p.Gln665His) c.3123G>T (p.Gln1041His) c.38G>T c.3303G>T (p.Gln1101His) c.2970G>T (p.Gln990His) | gnomAD v4 |
| 7 | g.117611655C>A | CA368992106 | CFTR | c.3214C>A (p.Pro1072Thr) c.*2928C>A (n.*2928C>A) c.3031C>A (p.Pro1011Thr) c.*1514C>A (n.*1514C>A) c.*3038C>A (n.*3038C>A) c.2788C>A (p.Pro930Thr) c.805C>A (p.Pro269Thr) c.864C>A c.1996C>A (p.Pro666Thr) c.3124C>A (p.Pro1042Thr) c.39C>A c.3304C>A (p.Pro1102Thr) c.2971C>A (p.Pro991Thr) | |
| 7 | g.117611655C= | CA1737387053 | CFTR | c.3214C= (p.Pro1072=) c.*2928C= (n.*2928C=) c.3031C= (p.Pro1011=) c.*1514C= (n.*1514C=) c.*3038C= (n.*3038C=) c.2788C= (p.Pro930=) c.805C= (p.Pro269=) c.864C= c.1996C= (p.Pro666=) c.3124C= (p.Pro1042=) c.39C= c.3304C= (p.Pro1102=) c.2971C= (p.Pro991=) | |
| 7 | g.117611655C>G | CA368992108 | CFTR | c.3214C>G (p.Pro1072Ala) c.*2928C>G (n.*2928C>G) c.3031C>G (p.Pro1011Ala) c.*1514C>G (n.*1514C>G) c.*3038C>G (n.*3038C>G) c.2788C>G (p.Pro930Ala) c.805C>G (p.Pro269Ala) c.864C>G c.1996C>G (p.Pro666Ala) c.3124C>G (p.Pro1042Ala) c.39C>G c.3304C>G (p.Pro1102Ala) c.2971C>G (p.Pro991Ala) | |
| 7 | g.117611655C>T | CA368992109 | CFTR | c.3214C>T (p.Pro1072Ser) c.*2928C>T (n.*2928C>T) c.3031C>T (p.Pro1011Ser) c.*1514C>T (n.*1514C>T) c.*3038C>T (n.*3038C>T) c.2788C>T (p.Pro930Ser) c.805C>T (p.Pro269Ser) c.864C>T c.1996C>T (p.Pro666Ser) c.3124C>T (p.Pro1042Ser) c.39C>T c.3304C>T (p.Pro1102Ser) c.2971C>T (p.Pro991Ser) | ClinVar dbSNP |
| 7 | g.117611656C>A | CA368992113 | CFTR | c.3215C>A (p.Pro1072His) c.*2929C>A (n.*2929C>A) c.3032C>A (p.Pro1011His) c.*1515C>A (n.*1515C>A) c.*3039C>A (n.*3039C>A) c.2789C>A (p.Pro930His) c.806C>A (p.Pro269His) c.865C>A c.1997C>A (p.Pro666His) c.3125C>A (p.Pro1042His) c.40C>A c.3305C>A (p.Pro1102His) c.2972C>A (p.Pro991His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611656C= | CA1737387057 | CFTR | c.3215C= (p.Pro1072=) c.*2929C= (n.*2929C=) c.3032C= (p.Pro1011=) c.*1515C= (n.*1515C=) c.*3039C= (n.*3039C=) c.2789C= (p.Pro930=) c.806C= (p.Pro269=) c.865C= c.1997C= (p.Pro666=) c.3125C= (p.Pro1042=) c.40C= c.3305C= (p.Pro1102=) c.2972C= (p.Pro991=) | |
| 7 | g.117611656C>G | CA368992115 | CFTR | c.3215C>G (p.Pro1072Arg) c.*2929C>G (n.*2929C>G) c.3032C>G (p.Pro1011Arg) c.*1515C>G (n.*1515C>G) c.*3039C>G (n.*3039C>G) c.2789C>G (p.Pro930Arg) c.806C>G (p.Pro269Arg) c.865C>G c.1997C>G (p.Pro666Arg) c.3125C>G (p.Pro1042Arg) c.40C>G c.3305C>G (p.Pro1102Arg) c.2972C>G (p.Pro991Arg) | |
| 7 | g.117611656C>T | CA368992116 | CFTR | c.3215C>T (p.Pro1072Leu) c.*2929C>T (n.*2929C>T) c.3032C>T (p.Pro1011Leu) c.*1515C>T (n.*1515C>T) c.*3039C>T (n.*3039C>T) c.2789C>T (p.Pro930Leu) c.806C>T (p.Pro269Leu) c.865C>T c.1997C>T (p.Pro666Leu) c.3125C>T (p.Pro1042Leu) c.40C>T c.3305C>T (p.Pro1102Leu) c.2972C>T (p.Pro991Leu) | |
| 7 | g.117611657T>A | CA457230020 | CFTR | c.3216T>A (p.Pro1072=) c.*2930T>A (n.*2930T>A) c.3033T>A (p.Pro1011=) c.*1516T>A (n.*1516T>A) c.*3040T>A (n.*3040T>A) c.2790T>A (p.Pro930=) c.807T>A (p.Pro269=) c.866T>A c.1998T>A (p.Pro666=) c.3126T>A (p.Pro1042=) c.41T>A c.3306T>A (p.Pro1102=) c.2973T>A (p.Pro991=) | |
| 7 | g.117611657T>C | CA457230021 | CFTR | c.3216T>C (p.Pro1072=) c.*2930T>C (n.*2930T>C) c.3033T>C (p.Pro1011=) c.*1516T>C (n.*1516T>C) c.*3040T>C (n.*3040T>C) c.2790T>C (p.Pro930=) c.807T>C (p.Pro269=) c.866T>C c.1998T>C (p.Pro666=) c.3126T>C (p.Pro1042=) c.41T>C c.3306T>C (p.Pro1102=) c.2973T>C (p.Pro991=) | |
| 7 | g.117611657T>G | CA457230022 | CFTR | c.3216T>G (p.Pro1072=) c.*2930T>G (n.*2930T>G) c.3033T>G (p.Pro1011=) c.*1516T>G (n.*1516T>G) c.*3040T>G (n.*3040T>G) c.2790T>G (p.Pro930=) c.807T>G (p.Pro269=) c.866T>G c.1998T>G (p.Pro666=) c.3126T>G (p.Pro1042=) c.41T>G c.3306T>G (p.Pro1102=) c.2973T>G (p.Pro991=) | |
| 7 | g.117611658dup | CA4451409 | CFTR | c.3217dup (p.Tyr1073LeufsTer3) c.*2931dup (n.*2931dup) c.3034dup (p.Tyr1012LeufsTer3) c.*1517dup (n.*1517dup) c.*3041dup (n.*3041dup) c.2791dup (p.Tyr931LeufsTer3) c.808dup (p.Tyr270LeufsTer3) c.867dup c.1999dup (p.Tyr667LeufsTer3) c.3127dup (p.Tyr1043LeufsTer3) c.42dup c.3307dup (p.Tyr1103LeufsTer3) c.2974dup (p.Tyr992LeufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611658T>A | CA368992118 | CFTR | c.3217T>A (p.Tyr1073Asn) c.*2931T>A (n.*2931T>A) c.3034T>A (p.Tyr1012Asn) c.*1517T>A (n.*1517T>A) c.*3041T>A (n.*3041T>A) c.2791T>A (p.Tyr931Asn) c.808T>A (p.Tyr270Asn) c.867T>A c.1999T>A (p.Tyr667Asn) c.3127T>A (p.Tyr1043Asn) c.42T>A c.3307T>A (p.Tyr1103Asn) c.2974T>A (p.Tyr992Asn) | |
| 7 | g.117611658T>C | CA368992120 | CFTR | c.3217T>C (p.Tyr1073His) c.*2931T>C (n.*2931T>C) c.3034T>C (p.Tyr1012His) c.*1517T>C (n.*1517T>C) c.*3041T>C (n.*3041T>C) c.2791T>C (p.Tyr931His) c.808T>C (p.Tyr270His) c.867T>C c.1999T>C (p.Tyr667His) c.3127T>C (p.Tyr1043His) c.42T>C c.3307T>C (p.Tyr1103His) c.2974T>C (p.Tyr992His) | |
| 7 | g.117611658T>G | CA368992122 | CFTR | c.3217T>G (p.Tyr1073Asp) c.*2931T>G (n.*2931T>G) c.3034T>G (p.Tyr1012Asp) c.*1517T>G (n.*1517T>G) c.*3041T>G (n.*3041T>G) c.2791T>G (p.Tyr931Asp) c.808T>G (p.Tyr270Asp) c.867T>G c.1999T>G (p.Tyr667Asp) c.3127T>G (p.Tyr1043Asp) c.42T>G c.3307T>G (p.Tyr1103Asp) c.2974T>G (p.Tyr992Asp) | gnomAD v4 |
| 7 | g.117611659A>C | CA368992128 | CFTR | c.3218A>C (p.Tyr1073Ser) c.*2932A>C (n.*2932A>C) c.3035A>C (p.Tyr1012Ser) c.*1518A>C (n.*1518A>C) c.*3042A>C (n.*3042A>C) c.2792A>C (p.Tyr931Ser) c.809A>C (p.Tyr270Ser) c.868A>C c.2000A>C (p.Tyr667Ser) c.3128A>C (p.Tyr1043Ser) c.43A>C c.3308A>C (p.Tyr1103Ser) c.2975A>C (p.Tyr992Ser) | |
| 7 | g.117611659A>G | CA368992125 | CFTR | c.3218A>G (p.Tyr1073Cys) c.*2932A>G (n.*2932A>G) c.3035A>G (p.Tyr1012Cys) c.*1518A>G (n.*1518A>G) c.*3042A>G (n.*3042A>G) c.2792A>G (p.Tyr931Cys) c.809A>G (p.Tyr270Cys) c.868A>G c.2000A>G (p.Tyr667Cys) c.3128A>G (p.Tyr1043Cys) c.43A>G c.3308A>G (p.Tyr1103Cys) c.2975A>G (p.Tyr992Cys) | |
| 7 | g.117611659A>T | CA368992126 | CFTR | c.3218A>T (p.Tyr1073Phe) c.*2932A>T (n.*2932A>T) c.3035A>T (p.Tyr1012Phe) c.*1518A>T (n.*1518A>T) c.*3042A>T (n.*3042A>T) c.2792A>T (p.Tyr931Phe) c.809A>T (p.Tyr270Phe) c.868A>T c.2000A>T (p.Tyr667Phe) c.3128A>T (p.Tyr1043Phe) c.43A>T c.3308A>T (p.Tyr1103Phe) c.2975A>T (p.Tyr992Phe) | |
| 7 | g.117611659_117611660delinsAC | CA1737387069 | CFTR | c.3218_3219delinsAC (p.Tyr1073=) c.*2932_*2933delinsAC (n.*2932_*2933delinsAC) c.3035_3036delinsAC (p.Tyr1012=) c.*1518_*1519delinsAC (n.*1518_*1519delinsAC) c.*3042_*3043delinsAC (n.*3042_*3043delinsAC) c.2792_2793delinsAC (p.Tyr931=) c.809_810delinsAC (p.Tyr270=) c.868_869delinsAC c.2000_2001delinsAC (p.Tyr667=) c.3128_3129delinsAC (p.Tyr1043=) c.43_44delinsAC c.3308_3309delinsAC (p.Tyr1103=) c.2975_2976delinsAC (p.Tyr992=) | |
| 7 | g.117611660del | CA918111983 | CFTR | c.3219del (p.Phe1074LeufsTer9) c.*2933del (n.*2933del) c.3036del (p.Phe1013LeufsTer9) c.*1519del (n.*1519del) c.*3043del (n.*3043del) c.2793del (p.Phe932LeufsTer9) c.810del (p.Phe271LeufsTer9) c.869del c.2001del (p.Phe668LeufsTer9) c.3129del (p.Phe1044LeufsTer9) c.44del c.3309del (p.Phe1104LeufsTer9) c.2976del (p.Phe993LeufsTer9) | dbSNP |
| 7 | g.117611660C>A | CA368992131 | CFTR | c.3219C>A (p.Tyr1073Ter) c.*2933C>A (n.*2933C>A) c.3036C>A (p.Tyr1012Ter) c.*1519C>A (n.*1519C>A) c.*3043C>A (n.*3043C>A) c.2793C>A (p.Tyr931Ter) c.810C>A (p.Tyr270Ter) c.869C>A c.2001C>A (p.Tyr667Ter) c.3129C>A (p.Tyr1043Ter) c.44C>A c.3309C>A (p.Tyr1103Ter) c.2976C>A (p.Tyr992Ter) | |
| 7 | g.117611660C= | CA1737387074 | CFTR | c.3219C= (p.Tyr1073=) c.*2933C= (n.*2933C=) c.3036C= (p.Tyr1012=) c.*1519C= (n.*1519C=) c.*3043C= (n.*3043C=) c.2793C= (p.Tyr931=) c.810C= (p.Tyr270=) c.869C= c.2001C= (p.Tyr667=) c.3129C= (p.Tyr1043=) c.44C= c.3309C= (p.Tyr1103=) c.2976C= (p.Tyr992=) | |
| 7 | g.117611660C>G | CA368992132 | CFTR | c.3219C>G (p.Tyr1073Ter) c.*2933C>G (n.*2933C>G) c.3036C>G (p.Tyr1012Ter) c.*1519C>G (n.*1519C>G) c.*3043C>G (n.*3043C>G) c.2793C>G (p.Tyr931Ter) c.810C>G (p.Tyr270Ter) c.869C>G c.2001C>G (p.Tyr667Ter) c.3129C>G (p.Tyr1043Ter) c.44C>G c.3309C>G (p.Tyr1103Ter) c.2976C>G (p.Tyr992Ter) |