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.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.117611722_117612076delinsTGTTAA | CA327125 | CFTR | c.3281_3367+268delinsTGTTAA c.*2995_*3081+268delinsTGTTAA c.3098_3184+268delinsTGTTAA c.*1581_*1667+268delinsTGTTAA c.*3105_*3191+268delinsTGTTAA c.2855_2941+268delinsTGTTAA c.29_115+268delinsTGTTAA c.872_958+268delinsTGTTAA c.931_1017+268delinsTGTTAA c.2063_2149+268delinsTGTTAA c.3191_3277+268delinsTGTTAA c.106_192+268delinsTGTTAA c.3371_3457+268delinsTGTTAA c.3038_3124+268delinsTGTTAA | ClinVar dbSNP |
| 7 | g.117611727_117611728delinsCT | CA1737387356 | CFTR | c.3286_3287delinsCT (p.Leu1096=) c.*3000_*3001delinsCT (n.*3000_*3001delinsCT) c.3103_3104delinsCT (p.Leu1035=) c.*1586_*1587delinsCT (n.*1586_*1587delinsCT) c.*3110_*3111delinsCT (n.*3110_*3111delinsCT) c.2860_2861delinsCT (p.Leu954=) c.34_35delinsCT (p.Leu12=) c.877_878delinsCT (p.Leu293=) c.936_937delinsCT c.2068_2069delinsCT (p.Leu690=) c.3196_3197delinsCT (p.Leu1066=) c.111_112delinsCT c.3376_3377delinsCT (p.Leu1126=) c.3043_3044delinsCT (p.Leu1015=) | |
| 7 | g.117611728del | CA327126 | CFTR | c.3287del (p.Leu1096ArgfsTer6) c.*3001del (n.*3001del) c.3104del (p.Leu1035ArgfsTer6) c.*1587del (n.*1587del) c.*3111del (n.*3111del) c.2861del (p.Leu954ArgfsTer6) c.35del (p.Leu12ArgfsTer6) c.878del (p.Leu293ArgfsTer6) c.937del c.2069del (p.Leu690ArgfsTer6) c.3197del (p.Leu1066ArgfsTer6) c.112del c.3377del (p.Leu1126ArgfsTer6) c.3044del (p.Leu1015ArgfsTer6) | ClinVar dbSNP |
| 7 | g.117611728T>A | CA368992392 | CFTR | c.3287T>A (p.Leu1096Gln) c.*3001T>A (n.*3001T>A) c.3104T>A (p.Leu1035Gln) c.*1587T>A (n.*1587T>A) c.*3111T>A (n.*3111T>A) c.2861T>A (p.Leu954Gln) c.35T>A (p.Leu12Gln) c.878T>A (p.Leu293Gln) c.937T>A c.2069T>A (p.Leu690Gln) c.3197T>A (p.Leu1066Gln) c.112T>A c.3377T>A (p.Leu1126Gln) c.3044T>A (p.Leu1015Gln) | |
| 7 | g.117611728T>C | CA368992389 | CFTR | c.3287T>C (p.Leu1096Pro) c.*3001T>C (n.*3001T>C) c.3104T>C (p.Leu1035Pro) c.*1587T>C (n.*1587T>C) c.*3111T>C (n.*3111T>C) c.2861T>C (p.Leu954Pro) c.35T>C (p.Leu12Pro) c.878T>C (p.Leu293Pro) c.937T>C c.2069T>C (p.Leu690Pro) c.3197T>C (p.Leu1066Pro) c.112T>C c.3377T>C (p.Leu1126Pro) c.3044T>C (p.Leu1015Pro) | |
| 7 | g.117611728T>G | CA164966621 | CFTR | c.3287T>G (p.Leu1096Arg) c.*3001T>G (n.*3001T>G) c.3104T>G (p.Leu1035Arg) c.*1587T>G (n.*1587T>G) c.*3111T>G (n.*3111T>G) c.2861T>G (p.Leu954Arg) c.35T>G (p.Leu12Arg) c.878T>G (p.Leu293Arg) c.937T>G c.2069T>G (p.Leu690Arg) c.3197T>G (p.Leu1066Arg) c.112T>G c.3377T>G (p.Leu1126Arg) c.3044T>G (p.Leu1015Arg) | dbSNP gnomAD v4 |
| 7 | g.117611728T= | CA1737387370 | CFTR | c.3287T= (p.Leu1096=) c.*3001T= (n.*3001T=) c.3104T= (p.Leu1035=) c.*1587T= (n.*1587T=) c.*3111T= (n.*3111T=) c.2861T= (p.Leu954=) c.35T= (p.Leu12=) c.878T= (p.Leu293=) c.937T= c.2069T= (p.Leu690=) c.3197T= (p.Leu1066=) c.112T= c.3377T= (p.Leu1126=) c.3044T= (p.Leu1015=) | |
| 7 | g.117611729G>A | CA164966630 | CFTR | c.3288G>A (p.Leu1096=) c.*3002G>A (n.*3002G>A) c.3105G>A (p.Leu1035=) c.*1588G>A (n.*1588G>A) c.*3112G>A (n.*3112G>A) c.2862G>A (p.Leu954=) c.36G>A (p.Leu12=) c.879G>A (p.Leu293=) c.938G>A c.2070G>A (p.Leu690=) c.3198G>A (p.Leu1066=) c.113G>A c.3378G>A (p.Leu1126=) c.3045G>A (p.Leu1015=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611729G>C | CA457230065 | CFTR | c.3288G>C (p.Leu1096=) c.*3002G>C (n.*3002G>C) c.3105G>C (p.Leu1035=) c.*1588G>C (n.*1588G>C) c.*3112G>C (n.*3112G>C) c.2862G>C (p.Leu954=) c.36G>C (p.Leu12=) c.879G>C (p.Leu293=) c.938G>C c.2070G>C (p.Leu690=) c.3198G>C (p.Leu1066=) c.113G>C c.3378G>C (p.Leu1126=) c.3045G>C (p.Leu1015=) | |
| 7 | g.117611729G= | CA1737387375 | CFTR | c.3288G= (p.Leu1096=) c.*3002G= (n.*3002G=) c.3105G= (p.Leu1035=) c.*1588G= (n.*1588G=) c.*3112G= (n.*3112G=) c.2862G= (p.Leu954=) c.36G= (p.Leu12=) c.879G= (p.Leu293=) c.938G= c.2070G= (p.Leu690=) c.3198G= (p.Leu1066=) c.113G= c.3378G= (p.Leu1126=) c.3045G= (p.Leu1015=) | |
| 7 | g.117611729G>T | CA457230066 | CFTR | c.3288G>T (p.Leu1096=) c.*3002G>T (n.*3002G>T) c.3105G>T (p.Leu1035=) c.*1588G>T (n.*1588G>T) c.*3112G>T (n.*3112G>T) c.2862G>T (p.Leu954=) c.36G>T (p.Leu12=) c.879G>T (p.Leu293=) c.938G>T c.2070G>T (p.Leu690=) c.3198G>T (p.Leu1066=) c.113G>T c.3378G>T (p.Leu1126=) c.3045G>T (p.Leu1015=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611730C>A | CA368992394 | CFTR | c.3289C>A (p.Arg1097Ser) c.*3003C>A (n.*3003C>A) c.3106C>A (p.Arg1036Ser) c.*1589C>A (n.*1589C>A) c.*3113C>A (n.*3113C>A) c.2863C>A (p.Arg955Ser) c.37C>A (p.Arg13Ser) c.880C>A (p.Arg294Ser) c.939C>A c.2071C>A (p.Arg691Ser) c.3199C>A (p.Arg1067Ser) c.114C>A c.3379C>A (p.Arg1127Ser) c.3046C>A (p.Arg1016Ser) | |
| 7 | g.117611730C= | CA1737387378 | CFTR | c.3289C= (p.Arg1097=) c.*3003C= (n.*3003C=) c.3106C= (p.Arg1036=) c.*1589C= (n.*1589C=) c.*3113C= (n.*3113C=) c.2863C= (p.Arg955=) c.37C= (p.Arg13=) c.880C= (p.Arg294=) c.939C= c.2071C= (p.Arg691=) c.3199C= (p.Arg1067=) c.114C= c.3379C= (p.Arg1127=) c.3046C= (p.Arg1016=) | |
| 7 | g.117611730C>G | CA368992396 | CFTR | c.3289C>G (p.Arg1097Gly) c.*3003C>G (n.*3003C>G) c.3106C>G (p.Arg1036Gly) c.*1589C>G (n.*1589C>G) c.*3113C>G (n.*3113C>G) c.2863C>G (p.Arg955Gly) c.37C>G (p.Arg13Gly) c.880C>G (p.Arg294Gly) c.939C>G c.2071C>G (p.Arg691Gly) c.3199C>G (p.Arg1067Gly) c.114C>G c.3379C>G (p.Arg1127Gly) c.3046C>G (p.Arg1016Gly) | gnomAD v4 |
| 7 | g.117611730C>T | CA4451418 | CFTR | c.3289C>T (p.Arg1097Cys) c.*3003C>T (n.*3003C>T) c.3106C>T (p.Arg1036Cys) c.*1589C>T (n.*1589C>T) c.*3113C>T (n.*3113C>T) c.2863C>T (p.Arg955Cys) c.37C>T (p.Arg13Cys) c.880C>T (p.Arg294Cys) c.939C>T c.2071C>T (p.Arg691Cys) c.3199C>T (p.Arg1067Cys) c.114C>T c.3379C>T (p.Arg1127Cys) c.3046C>T (p.Arg1016Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117611731G>A | CA4451419 | CFTR | c.3290G>A (p.Arg1097His) c.*3004G>A (n.*3004G>A) c.3107G>A (p.Arg1036His) c.*1590G>A (n.*1590G>A) c.*3114G>A (n.*3114G>A) c.2864G>A (p.Arg955His) c.38G>A (p.Arg13His) c.881G>A (p.Arg294His) c.940G>A c.2072G>A (p.Arg691His) c.3200G>A (p.Arg1067His) c.115G>A c.3380G>A (p.Arg1127His) c.3047G>A (p.Arg1016His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611731G>C | CA368992400 | CFTR | c.3290G>C (p.Arg1097Pro) c.*3004G>C (n.*3004G>C) c.3107G>C (p.Arg1036Pro) c.*1590G>C (n.*1590G>C) c.*3114G>C (n.*3114G>C) c.2864G>C (p.Arg955Pro) c.38G>C (p.Arg13Pro) c.881G>C (p.Arg294Pro) c.940G>C c.2072G>C (p.Arg691Pro) c.3200G>C (p.Arg1067Pro) c.115G>C c.3380G>C (p.Arg1127Pro) c.3047G>C (p.Arg1016Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611731G= | CA1737387388 | CFTR | c.3290G= (p.Arg1097=) c.*3004G= (n.*3004G=) c.3107G= (p.Arg1036=) c.*1590G= (n.*1590G=) c.*3114G= (n.*3114G=) c.2864G= (p.Arg955=) c.38G= (p.Arg13=) c.881G= (p.Arg294=) c.940G= c.2072G= (p.Arg691=) c.3200G= (p.Arg1067=) c.115G= c.3380G= (p.Arg1127=) c.3047G= (p.Arg1016=) | |
| 7 | g.117611731G>T | CA368992402 | CFTR | c.3290G>T (p.Arg1097Leu) c.*3004G>T (n.*3004G>T) c.3107G>T (p.Arg1036Leu) c.*1590G>T (n.*1590G>T) c.*3114G>T (n.*3114G>T) c.2864G>T (p.Arg955Leu) c.38G>T (p.Arg13Leu) c.881G>T (p.Arg294Leu) c.940G>T c.2072G>T (p.Arg691Leu) c.3200G>T (p.Arg1067Leu) c.115G>T c.3380G>T (p.Arg1127Leu) c.3047G>T (p.Arg1016Leu) | gnomAD v4 |
| 7 | g.117611732del | CA2695208437 | CFTR | c.3291del (p.Trp1098GlyfsTer4) c.*3005del (n.*3005del) c.3108del (p.Trp1037GlyfsTer4) c.*1591del (n.*1591del) c.*3115del (n.*3115del) c.2865del (p.Trp956GlyfsTer4) c.39del (p.Trp14GlyfsTer4) c.882del (p.Trp295GlyfsTer4) c.941del c.2073del (p.Trp692GlyfsTer4) c.3201del (p.Trp1068GlyfsTer4) c.116del c.3381del (p.Trp1128GlyfsTer4) c.3048del (p.Trp1017GlyfsTer4) | |
| 7 | g.117611732C>A | CA457230067 | CFTR | c.3291C>A (p.Arg1097=) c.*3005C>A (n.*3005C>A) c.3108C>A (p.Arg1036=) c.*1591C>A (n.*1591C>A) c.*3115C>A (n.*3115C>A) c.2865C>A (p.Arg955=) c.39C>A (p.Arg13=) c.882C>A (p.Arg294=) c.941C>A c.2073C>A (p.Arg691=) c.3201C>A (p.Arg1067=) c.116C>A c.3381C>A (p.Arg1127=) c.3048C>A (p.Arg1016=) | |
| 7 | g.117611732C>G | CA457230069 | CFTR | c.3291C>G (p.Arg1097=) c.*3005C>G (n.*3005C>G) c.3108C>G (p.Arg1036=) c.*1591C>G (n.*1591C>G) c.*3115C>G (n.*3115C>G) c.2865C>G (p.Arg955=) c.39C>G (p.Arg13=) c.882C>G (p.Arg294=) c.941C>G c.2073C>G (p.Arg691=) c.3201C>G (p.Arg1067=) c.116C>G c.3381C>G (p.Arg1127=) c.3048C>G (p.Arg1016=) | |
| 7 | g.117611732C>T | CA457230068 | CFTR | c.3291C>T (p.Arg1097=) c.*3005C>T (n.*3005C>T) c.3108C>T (p.Arg1036=) c.*1591C>T (n.*1591C>T) c.*3115C>T (n.*3115C>T) c.2865C>T (p.Arg955=) c.39C>T (p.Arg13=) c.882C>T (p.Arg294=) c.941C>T c.2073C>T (p.Arg691=) c.3201C>T (p.Arg1067=) c.116C>T c.3381C>T (p.Arg1127=) c.3048C>T (p.Arg1016=) | |
| 7 | g.117611733T>A | CA368992404 | CFTR | c.3292T>A (p.Trp1098Arg) c.*3006T>A (n.*3006T>A) c.3109T>A (p.Trp1037Arg) c.*1592T>A (n.*1592T>A) c.*3116T>A (n.*3116T>A) c.2866T>A (p.Trp956Arg) c.40T>A (p.Trp14Arg) c.883T>A (p.Trp295Arg) c.942T>A c.2074T>A (p.Trp692Arg) c.3202T>A (p.Trp1068Arg) c.117T>A c.3382T>A (p.Trp1128Arg) c.3049T>A (p.Trp1017Arg) | |
| 7 | g.117611733T>C | CA327130 | CFTR | c.3292T>C (p.Trp1098Arg) c.*3006T>C (n.*3006T>C) c.3109T>C (p.Trp1037Arg) c.*1592T>C (n.*1592T>C) c.*3116T>C (n.*3116T>C) c.2866T>C (p.Trp956Arg) c.40T>C (p.Trp14Arg) c.883T>C (p.Trp295Arg) c.942T>C c.2074T>C (p.Trp692Arg) c.3202T>C (p.Trp1068Arg) c.117T>C c.3382T>C (p.Trp1128Arg) c.3049T>C (p.Trp1017Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611733T>G | CA368992407 | CFTR | c.3292T>G (p.Trp1098Gly) c.*3006T>G (n.*3006T>G) c.3109T>G (p.Trp1037Gly) c.*1592T>G (n.*1592T>G) c.*3116T>G (n.*3116T>G) c.2866T>G (p.Trp956Gly) c.40T>G (p.Trp14Gly) c.883T>G (p.Trp295Gly) c.942T>G c.2074T>G (p.Trp692Gly) c.3202T>G (p.Trp1068Gly) c.117T>G c.3382T>G (p.Trp1128Gly) c.3049T>G (p.Trp1017Gly) | ClinVar dbSNP |
| 7 | g.117611733T= | CA1737387396 | CFTR | c.3292T= (p.Trp1098=) c.*3006T= (n.*3006T=) c.3109T= (p.Trp1037=) c.*1592T= (n.*1592T=) c.*3116T= (n.*3116T=) c.2866T= (p.Trp956=) c.40T= (p.Trp14=) c.883T= (p.Trp295=) c.942T= c.2074T= (p.Trp692=) c.3202T= (p.Trp1068=) c.117T= c.3382T= (p.Trp1128=) c.3049T= (p.Trp1017=) | |
| 7 | g.117611733_117611734delinsTG | CA1737387406 | CFTR | c.3292_3293delinsTG (p.Trp1098=) c.*3006_*3007delinsTG (n.*3006_*3007delinsTG) c.3109_3110delinsTG (p.Trp1037=) c.*1592_*1593delinsTG (n.*1592_*1593delinsTG) c.*3116_*3117delinsTG (n.*3116_*3117delinsTG) c.2866_2867delinsTG (p.Trp956=) c.40_41delinsTG (p.Trp14=) c.883_884delinsTG (p.Trp295=) c.942_943delinsTG c.2074_2075delinsTG (p.Trp692=) c.3202_3203delinsTG (p.Trp1068=) c.117_118delinsTG c.3382_3383delinsTG (p.Trp1128=) c.3049_3050delinsTG (p.Trp1017=) | |
| 7 | g.117611734G>A | CA327131 | CFTR | c.3293G>A (p.Trp1098Ter) c.*3007G>A (n.*3007G>A) c.3110G>A (p.Trp1037Ter) c.*1593G>A (n.*1593G>A) c.*3117G>A (n.*3117G>A) c.2867G>A (p.Trp956Ter) c.41G>A (p.Trp14Ter) c.884G>A (p.Trp295Ter) c.943G>A c.2075G>A (p.Trp692Ter) c.3203G>A (p.Trp1068Ter) c.118G>A c.3383G>A (p.Trp1128Ter) c.3050G>A (p.Trp1017Ter) | ClinVar dbSNP |
| 7 | g.117611734G>C | CA368992410 | CFTR | c.3293G>C (p.Trp1098Ser) c.*3007G>C (n.*3007G>C) c.3110G>C (p.Trp1037Ser) c.*1593G>C (n.*1593G>C) c.*3117G>C (n.*3117G>C) c.2867G>C (p.Trp956Ser) c.41G>C (p.Trp14Ser) c.884G>C (p.Trp295Ser) c.943G>C c.2075G>C (p.Trp692Ser) c.3203G>C (p.Trp1068Ser) c.118G>C c.3383G>C (p.Trp1128Ser) c.3050G>C (p.Trp1017Ser) | ClinVar |
| 7 | g.117611734G= | CA1737387413 | CFTR | c.3293G= (p.Trp1098=) c.*3007G= (n.*3007G=) c.3110G= (p.Trp1037=) c.*1593G= (n.*1593G=) c.*3117G= (n.*3117G=) c.2867G= (p.Trp956=) c.41G= (p.Trp14=) c.884G= (p.Trp295=) c.943G= c.2075G= (p.Trp692=) c.3203G= (p.Trp1068=) c.118G= c.3383G= (p.Trp1128=) c.3050G= (p.Trp1017=) | |
| 7 | g.117611734G>T | CA368992413 | CFTR | c.3293G>T (p.Trp1098Leu) c.*3007G>T (n.*3007G>T) c.3110G>T (p.Trp1037Leu) c.*1593G>T (n.*1593G>T) c.*3117G>T (n.*3117G>T) c.2867G>T (p.Trp956Leu) c.41G>T (p.Trp14Leu) c.884G>T (p.Trp295Leu) c.943G>T c.2075G>T (p.Trp692Leu) c.3203G>T (p.Trp1068Leu) c.118G>T c.3383G>T (p.Trp1128Leu) c.3050G>T (p.Trp1017Leu) | ClinVar |
| 7 | g.117611735del | CA327134 | CFTR | c.3294del (p.Trp1098CysfsTer4) c.*3008del (n.*3008del) c.3111del (p.Trp1037CysfsTer4) c.*1594del (n.*1594del) c.*3118del (n.*3118del) c.2868del (p.Trp956CysfsTer4) c.42del (p.Trp14CysfsTer4) c.885del (p.Trp295CysfsTer4) c.944del c.2076del (p.Trp692CysfsTer4) c.3204del (p.Trp1068CysfsTer4) c.119del c.3384del (p.Trp1128CysfsTer4) c.3051del (p.Trp1017CysfsTer4) | ClinVar dbSNP |
| 7 | g.117611735G>A | CA276112 | CFTR | c.3294G>A (p.Trp1098Ter) c.*3008G>A (n.*3008G>A) c.3111G>A (p.Trp1037Ter) c.*1594G>A (n.*1594G>A) c.*3118G>A (n.*3118G>A) c.2868G>A (p.Trp956Ter) c.42G>A (p.Trp14Ter) c.885G>A (p.Trp295Ter) c.944G>A c.2076G>A (p.Trp692Ter) c.3204G>A (p.Trp1068Ter) c.119G>A c.3384G>A (p.Trp1128Ter) c.3051G>A (p.Trp1017Ter) | ClinVar dbSNP |
| 7 | g.117611735G>C | CA327132 | CFTR | c.3294G>C (p.Trp1098Cys) c.*3008G>C (n.*3008G>C) c.3111G>C (p.Trp1037Cys) c.*1594G>C (n.*1594G>C) c.*3118G>C (n.*3118G>C) c.2868G>C (p.Trp956Cys) c.42G>C (p.Trp14Cys) c.885G>C (p.Trp295Cys) c.944G>C c.2076G>C (p.Trp692Cys) c.3204G>C (p.Trp1068Cys) c.119G>C c.3384G>C (p.Trp1128Cys) c.3051G>C (p.Trp1017Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611735G= | CA1737387422 | CFTR | c.3294G= (p.Trp1098=) c.*3008G= (n.*3008G=) c.3111G= (p.Trp1037=) c.*1594G= (n.*1594G=) c.*3118G= (n.*3118G=) c.2868G= (p.Trp956=) c.42G= (p.Trp14=) c.885G= (p.Trp295=) c.944G= c.2076G= (p.Trp692=) c.3204G= (p.Trp1068=) c.119G= c.3384G= (p.Trp1128=) c.3051G= (p.Trp1017=) | |
| 7 | g.117611735G>T | CA368992416 | CFTR | c.3294G>T (p.Trp1098Cys) c.*3008G>T (n.*3008G>T) c.3111G>T (p.Trp1037Cys) c.*1594G>T (n.*1594G>T) c.*3118G>T (n.*3118G>T) c.2868G>T (p.Trp956Cys) c.42G>T (p.Trp14Cys) c.885G>T (p.Trp295Cys) c.944G>T c.2076G>T (p.Trp692Cys) c.3204G>T (p.Trp1068Cys) c.119G>T c.3384G>T (p.Trp1128Cys) c.3051G>T (p.Trp1017Cys) | ClinVar dbSNP |
| 7 | g.117611736T>A | CA368992417 | CFTR | c.3295T>A (p.Phe1099Ile) c.*3009T>A (n.*3009T>A) c.3112T>A (p.Phe1038Ile) c.*1595T>A (n.*1595T>A) c.*3119T>A (n.*3119T>A) c.2869T>A (p.Phe957Ile) c.43T>A (p.Phe15Ile) c.886T>A (p.Phe296Ile) c.945T>A c.2077T>A (p.Phe693Ile) c.3205T>A (p.Phe1069Ile) c.120T>A c.3385T>A (p.Phe1129Ile) c.3052T>A (p.Phe1018Ile) |