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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.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) | |
| 7 | g.117611736T>C | CA368992419 | CFTR | c.3295T>C (p.Phe1099Leu) c.*3009T>C (n.*3009T>C) c.3112T>C (p.Phe1038Leu) c.*1595T>C (n.*1595T>C) c.*3119T>C (n.*3119T>C) c.2869T>C (p.Phe957Leu) c.43T>C (p.Phe15Leu) c.886T>C (p.Phe296Leu) c.945T>C c.2077T>C (p.Phe693Leu) c.3205T>C (p.Phe1069Leu) c.120T>C c.3385T>C (p.Phe1129Leu) c.3052T>C (p.Phe1018Leu) | |
| 7 | g.117611736T>G | CA368992421 | CFTR | c.3295T>G (p.Phe1099Val) c.*3009T>G (n.*3009T>G) c.3112T>G (p.Phe1038Val) c.*1595T>G (n.*1595T>G) c.*3119T>G (n.*3119T>G) c.2869T>G (p.Phe957Val) c.43T>G (p.Phe15Val) c.886T>G (p.Phe296Val) c.945T>G c.2077T>G (p.Phe693Val) c.3205T>G (p.Phe1069Val) c.120T>G c.3385T>G (p.Phe1129Val) c.3052T>G (p.Phe1018Val) | |
| 7 | g.117611737T>A | CA368992423 | CFTR | c.3296T>A (p.Phe1099Tyr) c.*3010T>A (n.*3010T>A) c.3113T>A (p.Phe1038Tyr) c.*1596T>A (n.*1596T>A) c.*3120T>A (n.*3120T>A) c.2870T>A (p.Phe957Tyr) c.44T>A (p.Phe15Tyr) c.887T>A (p.Phe296Tyr) c.946T>A c.2078T>A (p.Phe693Tyr) c.3206T>A (p.Phe1069Tyr) c.121T>A c.3386T>A (p.Phe1129Tyr) c.3053T>A (p.Phe1018Tyr) | |
| 7 | g.117611737T>C | CA368992425 | CFTR | c.3296T>C (p.Phe1099Ser) c.*3010T>C (n.*3010T>C) c.3113T>C (p.Phe1038Ser) c.*1596T>C (n.*1596T>C) c.*3120T>C (n.*3120T>C) c.2870T>C (p.Phe957Ser) c.44T>C (p.Phe15Ser) c.887T>C (p.Phe296Ser) c.946T>C c.2078T>C (p.Phe693Ser) c.3206T>C (p.Phe1069Ser) c.121T>C c.3386T>C (p.Phe1129Ser) c.3053T>C (p.Phe1018Ser) | |
| 7 | g.117611737T>G | CA368992427 | CFTR | c.3296T>G (p.Phe1099Cys) c.*3010T>G (n.*3010T>G) c.3113T>G (p.Phe1038Cys) c.*1596T>G (n.*1596T>G) c.*3120T>G (n.*3120T>G) c.2870T>G (p.Phe957Cys) c.44T>G (p.Phe15Cys) c.887T>G (p.Phe296Cys) c.946T>G c.2078T>G (p.Phe693Cys) c.3206T>G (p.Phe1069Cys) c.121T>G c.3386T>G (p.Phe1129Cys) c.3053T>G (p.Phe1018Cys) | |
| 7 | g.117611738C>A | CA4451420 | CFTR | c.3297C>A (p.Phe1099Leu) c.*3011C>A (n.*3011C>A) c.3114C>A (p.Phe1038Leu) c.*1597C>A (n.*1597C>A) c.*3121C>A (n.*3121C>A) c.2871C>A (p.Phe957Leu) c.45C>A (p.Phe15Leu) c.888C>A (p.Phe296Leu) c.947C>A c.2079C>A (p.Phe693Leu) c.3207C>A (p.Phe1069Leu) c.122C>A c.3387C>A (p.Phe1129Leu) c.3054C>A (p.Phe1018Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611738C= | CA1737387437 | CFTR | c.3297C= (p.Phe1099=) c.*3011C= (n.*3011C=) c.3114C= (p.Phe1038=) c.*1597C= (n.*1597C=) c.*3121C= (n.*3121C=) c.2871C= (p.Phe957=) c.45C= (p.Phe15=) c.888C= (p.Phe296=) c.947C= c.2079C= (p.Phe693=) c.3207C= (p.Phe1069=) c.122C= c.3387C= (p.Phe1129=) c.3054C= (p.Phe1018=) | |
| 7 | g.117611738C>G | CA368992429 | CFTR | c.3297C>G (p.Phe1099Leu) c.*3011C>G (n.*3011C>G) c.3114C>G (p.Phe1038Leu) c.*1597C>G (n.*1597C>G) c.*3121C>G (n.*3121C>G) c.2871C>G (p.Phe957Leu) c.45C>G (p.Phe15Leu) c.888C>G (p.Phe296Leu) c.947C>G c.2079C>G (p.Phe693Leu) c.3207C>G (p.Phe1069Leu) c.122C>G c.3387C>G (p.Phe1129Leu) c.3054C>G (p.Phe1018Leu) | |
| 7 | g.117611738C>T | CA164966707 | CFTR | c.3297C>T (p.Phe1099=) c.*3011C>T (n.*3011C>T) c.3114C>T (p.Phe1038=) c.*1597C>T (n.*1597C>T) c.*3121C>T (n.*3121C>T) c.2871C>T (p.Phe957=) c.45C>T (p.Phe15=) c.888C>T (p.Phe296=) c.947C>T c.2079C>T (p.Phe693=) c.3207C>T (p.Phe1069=) c.122C>T c.3387C>T (p.Phe1129=) c.3054C>T (p.Phe1018=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611739C>A | CA368992433 | CFTR | c.3298C>A (p.Gln1100Lys) c.*3012C>A (n.*3012C>A) c.3115C>A (p.Gln1039Lys) c.*1598C>A (n.*1598C>A) c.*3122C>A (n.*3122C>A) c.2872C>A (p.Gln958Lys) c.46C>A (p.Gln16Lys) c.889C>A (p.Gln297Lys) c.948C>A c.2080C>A (p.Gln694Lys) c.3208C>A (p.Gln1070Lys) c.123C>A c.3388C>A (p.Gln1130Lys) c.3055C>A (p.Gln1019Lys) | |
| 7 | g.117611739C>G | CA368992430 | CFTR | c.3298C>G (p.Gln1100Glu) c.*3012C>G (n.*3012C>G) c.3115C>G (p.Gln1039Glu) c.*1598C>G (n.*1598C>G) c.*3122C>G (n.*3122C>G) c.2872C>G (p.Gln958Glu) c.46C>G (p.Gln16Glu) c.889C>G (p.Gln297Glu) c.948C>G c.2080C>G (p.Gln694Glu) c.3208C>G (p.Gln1070Glu) c.123C>G c.3388C>G (p.Gln1130Glu) c.3055C>G (p.Gln1019Glu) | |
| 7 | g.117611739C>T | CA368992431 | CFTR | c.3298C>T (p.Gln1100Ter) c.*3012C>T (n.*3012C>T) c.3115C>T (p.Gln1039Ter) c.*1598C>T (n.*1598C>T) c.*3122C>T (n.*3122C>T) c.2872C>T (p.Gln958Ter) c.46C>T (p.Gln16Ter) c.889C>T (p.Gln297Ter) c.948C>T c.2080C>T (p.Gln694Ter) c.3208C>T (p.Gln1070Ter) c.123C>T c.3388C>T (p.Gln1130Ter) c.3055C>T (p.Gln1019Ter) | |
| 7 | g.117611740A= | CA1737387449 | CFTR | c.3299A= (p.Gln1100=) c.*3013A= (n.*3013A=) c.3116A= (p.Gln1039=) c.*1599A= (n.*1599A=) c.*3123A= (n.*3123A=) c.2873A= (p.Gln958=) c.47A= (p.Gln16=) c.890A= (p.Gln297=) c.949A= c.2081A= (p.Gln694=) c.3209A= (p.Gln1070=) c.124A= c.3389A= (p.Gln1130=) c.3056A= (p.Gln1019=) | |
| 7 | g.117611740A>C | CA327135 | CFTR | c.3299A>C (p.Gln1100Pro) c.*3013A>C (n.*3013A>C) c.3116A>C (p.Gln1039Pro) c.*1599A>C (n.*1599A>C) c.*3123A>C (n.*3123A>C) c.2873A>C (p.Gln958Pro) c.47A>C (p.Gln16Pro) c.890A>C (p.Gln297Pro) c.949A>C c.2081A>C (p.Gln694Pro) c.3209A>C (p.Gln1070Pro) c.124A>C c.3389A>C (p.Gln1130Pro) c.3056A>C (p.Gln1019Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611740A>G | CA368992435 | CFTR | c.3299A>G (p.Gln1100Arg) c.*3013A>G (n.*3013A>G) c.3116A>G (p.Gln1039Arg) c.*1599A>G (n.*1599A>G) c.*3123A>G (n.*3123A>G) c.2873A>G (p.Gln958Arg) c.47A>G (p.Gln16Arg) c.890A>G (p.Gln297Arg) c.949A>G c.2081A>G (p.Gln694Arg) c.3209A>G (p.Gln1070Arg) c.124A>G c.3389A>G (p.Gln1130Arg) c.3056A>G (p.Gln1019Arg) | gnomAD v4 |
| 7 | g.117611740A>T | CA368992436 | CFTR | c.3299A>T (p.Gln1100Leu) c.*3013A>T (n.*3013A>T) c.3116A>T (p.Gln1039Leu) c.*1599A>T (n.*1599A>T) c.*3123A>T (n.*3123A>T) c.2873A>T (p.Gln958Leu) c.47A>T (p.Gln16Leu) c.890A>T (p.Gln297Leu) c.949A>T c.2081A>T (p.Gln694Leu) c.3209A>T (p.Gln1070Leu) c.124A>T c.3389A>T (p.Gln1130Leu) c.3056A>T (p.Gln1019Leu) | |
| 7 | g.117611742dup | CA2840245475 | CFTR | c.3301dup (p.Met1101AsnfsTer?) c.*3015dup (n.*3015dup) c.3118dup (p.Met1040AsnfsTer?) c.*1601dup (n.*1601dup) c.*3125dup (n.*3125dup) c.2875dup (p.Met959AsnfsTer?) c.49dup (p.Met17AsnfsTer?) c.892dup (p.Met298AsnfsTer?) c.951dup c.2083dup (p.Met695AsnfsTer?) c.3211dup (p.Met1071AsnfsTer?) c.126dup c.3391dup (p.Met1131AsnfsTer?) c.3058dup (p.Met1020AsnfsTer?) | |
| 7 | g.117611742del | CA2573141589 | CFTR | c.3301del (p.Met1101Ter) c.*3015del (n.*3015del) c.3118del (p.Met1040Ter) c.*1601del (n.*1601del) c.*3125del (n.*3125del) c.2875del (p.Met959Ter) c.49del (p.Met17Ter) c.892del (p.Met298Ter) c.951del c.2083del (p.Met695Ter) c.3211del (p.Met1071Ter) c.126del c.3391del (p.Met1131Ter) c.3058del (p.Met1020Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611741A>C | CA368992438 | CFTR | c.3300A>C (p.Gln1100His) c.*3014A>C (n.*3014A>C) c.3117A>C (p.Gln1039His) c.*1600A>C (n.*1600A>C) c.*3124A>C (n.*3124A>C) c.2874A>C (p.Gln958His) c.48A>C (p.Gln16His) c.891A>C (p.Gln297His) c.950A>C c.2082A>C (p.Gln694His) c.3210A>C (p.Gln1070His) c.125A>C c.3390A>C (p.Gln1130His) c.3057A>C (p.Gln1019His) | |
| 7 | g.117611741A>G | CA457230071 | CFTR | c.3300A>G (p.Gln1100=) c.*3014A>G (n.*3014A>G) c.3117A>G (p.Gln1039=) c.*1600A>G (n.*1600A>G) c.*3124A>G (n.*3124A>G) c.2874A>G (p.Gln958=) c.48A>G (p.Gln16=) c.891A>G (p.Gln297=) c.950A>G c.2082A>G (p.Gln694=) c.3210A>G (p.Gln1070=) c.125A>G c.3390A>G (p.Gln1130=) c.3057A>G (p.Gln1019=) | |
| 7 | g.117611741A>T | CA368992440 | CFTR | c.3300A>T (p.Gln1100His) c.*3014A>T (n.*3014A>T) c.3117A>T (p.Gln1039His) c.*1600A>T (n.*1600A>T) c.*3124A>T (n.*3124A>T) c.2874A>T (p.Gln958His) c.48A>T (p.Gln16His) c.891A>T (p.Gln297His) c.950A>T c.2082A>T (p.Gln694His) c.3210A>T (p.Gln1070His) c.125A>T c.3390A>T (p.Gln1130His) c.3057A>T (p.Gln1019His) | |
| 7 | g.117611742A>C | CA368992442 | CFTR | c.3301A>C (p.Met1101Leu) c.*3015A>C (n.*3015A>C) c.3118A>C (p.Met1040Leu) c.*1601A>C (n.*1601A>C) c.*3125A>C (n.*3125A>C) c.2875A>C (p.Met959Leu) c.49A>C (p.Met17Leu) c.892A>C (p.Met298Leu) c.951A>C c.2083A>C (p.Met695Leu) c.3211A>C (p.Met1071Leu) c.126A>C c.3391A>C (p.Met1131Leu) c.3058A>C (p.Met1020Leu) | |
| 7 | g.117611742A>G | CA368992444 | CFTR | c.3301A>G (p.Met1101Val) c.*3015A>G (n.*3015A>G) c.3118A>G (p.Met1040Val) c.*1601A>G (n.*1601A>G) c.*3125A>G (n.*3125A>G) c.2875A>G (p.Met959Val) c.49A>G (p.Met17Val) c.892A>G (p.Met298Val) c.951A>G c.2083A>G (p.Met695Val) c.3211A>G (p.Met1071Val) c.126A>G c.3391A>G (p.Met1131Val) c.3058A>G (p.Met1020Val) | |
| 7 | g.117611742A>T | CA368992446 | CFTR | c.3301A>T (p.Met1101Leu) c.*3015A>T (n.*3015A>T) c.3118A>T (p.Met1040Leu) c.*1601A>T (n.*1601A>T) c.*3125A>T (n.*3125A>T) c.2875A>T (p.Met959Leu) c.49A>T (p.Met17Leu) c.892A>T (p.Met298Leu) c.951A>T c.2083A>T (p.Met695Leu) c.3211A>T (p.Met1071Leu) c.126A>T c.3391A>T (p.Met1131Leu) c.3058A>T (p.Met1020Leu) | |
| 7 | g.117611743T>A | CA221025 | CFTR | c.3302T>A (p.Met1101Lys) c.*3016T>A (n.*3016T>A) c.3119T>A (p.Met1040Lys) c.*1602T>A (n.*1602T>A) c.*3126T>A (n.*3126T>A) c.2876T>A (p.Met959Lys) c.50T>A (p.Met17Lys) c.893T>A (p.Met298Lys) c.952T>A c.2084T>A (p.Met695Lys) c.3212T>A (p.Met1071Lys) c.127T>A c.3392T>A (p.Met1131Lys) c.3059T>A (p.Met1020Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611743T>C | CA368992448 | CFTR | c.3302T>C (p.Met1101Thr) c.*3016T>C (n.*3016T>C) c.3119T>C (p.Met1040Thr) c.*1602T>C (n.*1602T>C) c.*3126T>C (n.*3126T>C) c.2876T>C (p.Met959Thr) c.50T>C (p.Met17Thr) c.893T>C (p.Met298Thr) c.952T>C c.2084T>C (p.Met695Thr) c.3212T>C (p.Met1071Thr) c.127T>C c.3392T>C (p.Met1131Thr) c.3059T>C (p.Met1020Thr) | |
| 7 | g.117611743T>G | CA327137 | CFTR | c.3302T>G (p.Met1101Arg) c.*3016T>G (n.*3016T>G) c.3119T>G (p.Met1040Arg) c.*1602T>G (n.*1602T>G) c.*3126T>G (n.*3126T>G) c.2876T>G (p.Met959Arg) c.50T>G (p.Met17Arg) c.893T>G (p.Met298Arg) c.952T>G c.2084T>G (p.Met695Arg) c.3212T>G (p.Met1071Arg) c.127T>G c.3392T>G (p.Met1131Arg) c.3059T>G (p.Met1020Arg) | ClinVar dbSNP |
| 7 | g.117611743T= | CA1737387457 | CFTR | c.3302T= (p.Met1101=) c.*3016T= (n.*3016T=) c.3119T= (p.Met1040=) c.*1602T= (n.*1602T=) c.*3126T= (n.*3126T=) c.2876T= (p.Met959=) c.50T= (p.Met17=) c.893T= (p.Met298=) c.952T= c.2084T= (p.Met695=) c.3212T= (p.Met1071=) c.127T= c.3392T= (p.Met1131=) c.3059T= (p.Met1020=) | |
| 7 | g.117611744G>A | CA4451421 | CFTR | c.3303G>A (p.Met1101Ile) c.*3017G>A (n.*3017G>A) c.3120G>A (p.Met1040Ile) c.*1603G>A (n.*1603G>A) c.*3127G>A (n.*3127G>A) c.2877G>A (p.Met959Ile) c.51G>A (p.Met17Ile) c.894G>A (p.Met298Ile) c.953G>A c.2085G>A (p.Met695Ile) c.3213G>A (p.Met1071Ile) c.128G>A c.3393G>A (p.Met1131Ile) c.3060G>A (p.Met1020Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611744G>C | CA368992454 | CFTR | c.3303G>C (p.Met1101Ile) c.*3017G>C (n.*3017G>C) c.3120G>C (p.Met1040Ile) c.*1603G>C (n.*1603G>C) c.*3127G>C (n.*3127G>C) c.2877G>C (p.Met959Ile) c.51G>C (p.Met17Ile) c.894G>C (p.Met298Ile) c.953G>C c.2085G>C (p.Met695Ile) c.3213G>C (p.Met1071Ile) c.128G>C c.3393G>C (p.Met1131Ile) c.3060G>C (p.Met1020Ile) | |
| 7 | g.117611744G= | CA1737387466 | CFTR | c.3303G= (p.Met1101=) c.*3017G= (n.*3017G=) c.3120G= (p.Met1040=) c.*1603G= (n.*1603G=) c.*3127G= (n.*3127G=) c.2877G= (p.Met959=) c.51G= (p.Met17=) c.894G= (p.Met298=) c.953G= c.2085G= (p.Met695=) c.3213G= (p.Met1071=) c.128G= c.3393G= (p.Met1131=) c.3060G= (p.Met1020=) |