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.117611757A>C | CA368992509 | CFTR | c.3316A>C (p.Ile1106Leu) c.*3030A>C (n.*3030A>C) c.3133A>C (p.Ile1045Leu) c.*1616A>C (n.*1616A>C) c.*3140A>C (n.*3140A>C) c.2890A>C (p.Ile964Leu) c.64A>C (p.Ile22Leu) c.907A>C (p.Ile303Leu) c.966A>C c.2098A>C (p.Ile700Leu) c.3226A>C (p.Ile1076Leu) c.141A>C c.3406A>C (p.Ile1136Leu) c.3073A>C (p.Ile1025Leu) | |
| 7 | g.117611757A>G | CA368992511 | CFTR | c.3316A>G (p.Ile1106Val) c.*3030A>G (n.*3030A>G) c.3133A>G (p.Ile1045Val) c.*1616A>G (n.*1616A>G) c.*3140A>G (n.*3140A>G) c.2890A>G (p.Ile964Val) c.64A>G (p.Ile22Val) c.907A>G (p.Ile303Val) c.966A>G c.2098A>G (p.Ile700Val) c.3226A>G (p.Ile1076Val) c.141A>G c.3406A>G (p.Ile1136Val) c.3073A>G (p.Ile1025Val) | |
| 7 | g.117611757A>T | CA368992512 | CFTR | c.3316A>T (p.Ile1106Phe) c.*3030A>T (n.*3030A>T) c.3133A>T (p.Ile1045Phe) c.*1616A>T (n.*1616A>T) c.*3140A>T (n.*3140A>T) c.2890A>T (p.Ile964Phe) c.64A>T (p.Ile22Phe) c.907A>T (p.Ile303Phe) c.966A>T c.2098A>T (p.Ile700Phe) c.3226A>T (p.Ile1076Phe) c.141A>T c.3406A>T (p.Ile1136Phe) c.3073A>T (p.Ile1025Phe) | |
| 7 | g.117611758T>A | CA368992514 | CFTR | c.3317T>A (p.Ile1106Asn) c.*3031T>A (n.*3031T>A) c.3134T>A (p.Ile1045Asn) c.*1617T>A (n.*1617T>A) c.*3141T>A (n.*3141T>A) c.2891T>A (p.Ile964Asn) c.65T>A (p.Ile22Asn) c.908T>A (p.Ile303Asn) c.967T>A c.2099T>A (p.Ile700Asn) c.3227T>A (p.Ile1076Asn) c.142T>A c.3407T>A (p.Ile1136Asn) c.3074T>A (p.Ile1025Asn) | |
| 7 | g.117611758T>C | CA4451423 | CFTR | c.3317T>C (p.Ile1106Thr) c.*3031T>C (n.*3031T>C) c.3134T>C (p.Ile1045Thr) c.*1617T>C (n.*1617T>C) c.*3141T>C (n.*3141T>C) c.2891T>C (p.Ile964Thr) c.65T>C (p.Ile22Thr) c.908T>C (p.Ile303Thr) c.967T>C c.2099T>C (p.Ile700Thr) c.3227T>C (p.Ile1076Thr) c.142T>C c.3407T>C (p.Ile1136Thr) c.3074T>C (p.Ile1025Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611758T>G | CA368992517 | CFTR | c.3317T>G (p.Ile1106Ser) c.*3031T>G (n.*3031T>G) c.3134T>G (p.Ile1045Ser) c.*1617T>G (n.*1617T>G) c.*3141T>G (n.*3141T>G) c.2891T>G (p.Ile964Ser) c.65T>G (p.Ile22Ser) c.908T>G (p.Ile303Ser) c.967T>G c.2099T>G (p.Ile700Ser) c.3227T>G (p.Ile1076Ser) c.142T>G c.3407T>G (p.Ile1136Ser) c.3074T>G (p.Ile1025Ser) | gnomAD v4 |
| 7 | g.117611758T= | CA1737387565 | CFTR | c.3317T= (p.Ile1106=) c.*3031T= (n.*3031T=) c.3134T= (p.Ile1045=) c.*1617T= (n.*1617T=) c.*3141T= (n.*3141T=) c.2891T= (p.Ile964=) c.65T= (p.Ile22=) c.908T= (p.Ile303=) c.967T= c.2099T= (p.Ile700=) c.3227T= (p.Ile1076=) c.142T= c.3407T= (p.Ile1136=) c.3074T= (p.Ile1025=) | |
| 7 | g.117611759T>A | CA457230076 | CFTR | c.3318T>A (p.Ile1106=) c.*3032T>A (n.*3032T>A) c.3135T>A (p.Ile1045=) c.*1618T>A (n.*1618T>A) c.*3142T>A (n.*3142T>A) c.2892T>A (p.Ile964=) c.66T>A (p.Ile22=) c.909T>A (p.Ile303=) c.968T>A c.2100T>A (p.Ile700=) c.3228T>A (p.Ile1076=) c.143T>A c.3408T>A (p.Ile1136=) c.3075T>A (p.Ile1025=) | ClinVar dbSNP |
| 7 | g.117611759T>C | CA457230077 | CFTR | c.3318T>C (p.Ile1106=) c.*3032T>C (n.*3032T>C) c.3135T>C (p.Ile1045=) c.*1618T>C (n.*1618T>C) c.*3142T>C (n.*3142T>C) c.2892T>C (p.Ile964=) c.66T>C (p.Ile22=) c.909T>C (p.Ile303=) c.968T>C c.2100T>C (p.Ile700=) c.3228T>C (p.Ile1076=) c.143T>C c.3408T>C (p.Ile1136=) c.3075T>C (p.Ile1025=) | |
| 7 | g.117611759T>G | CA368992519 | CFTR | c.3318T>G (p.Ile1106Met) c.*3032T>G (n.*3032T>G) c.3135T>G (p.Ile1045Met) c.*1618T>G (n.*1618T>G) c.*3142T>G (n.*3142T>G) c.2892T>G (p.Ile964Met) c.66T>G (p.Ile22Met) c.909T>G (p.Ile303Met) c.968T>G c.2100T>G (p.Ile700Met) c.3228T>G (p.Ile1076Met) c.143T>G c.3408T>G (p.Ile1136Met) c.3075T>G (p.Ile1025Met) | |
| 7 | g.117611760T>A | CA368992522 | CFTR | c.3319T>A (p.Phe1107Ile) c.*3033T>A (n.*3033T>A) c.3136T>A (p.Phe1046Ile) c.*1619T>A (n.*1619T>A) c.*3143T>A (n.*3143T>A) c.2893T>A (p.Phe965Ile) c.67T>A (p.Phe23Ile) c.910T>A (p.Phe304Ile) c.969T>A c.2101T>A (p.Phe701Ile) c.3229T>A (p.Phe1077Ile) c.144T>A c.3409T>A (p.Phe1137Ile) c.3076T>A (p.Phe1026Ile) | |
| 7 | g.117611760T>C | CA368992523 | CFTR | c.3319T>C (p.Phe1107Leu) c.*3033T>C (n.*3033T>C) c.3136T>C (p.Phe1046Leu) c.*1619T>C (n.*1619T>C) c.*3143T>C (n.*3143T>C) c.2893T>C (p.Phe965Leu) c.67T>C (p.Phe23Leu) c.910T>C (p.Phe304Leu) c.969T>C c.2101T>C (p.Phe701Leu) c.3229T>C (p.Phe1077Leu) c.144T>C c.3409T>C (p.Phe1137Leu) c.3076T>C (p.Phe1026Leu) | ClinVar dbSNP |
| 7 | g.117611760T>G | CA368992525 | CFTR | c.3319T>G (p.Phe1107Val) c.*3033T>G (n.*3033T>G) c.3136T>G (p.Phe1046Val) c.*1619T>G (n.*1619T>G) c.*3143T>G (n.*3143T>G) c.2893T>G (p.Phe965Val) c.67T>G (p.Phe23Val) c.910T>G (p.Phe304Val) c.969T>G c.2101T>G (p.Phe701Val) c.3229T>G (p.Phe1077Val) c.144T>G c.3409T>G (p.Phe1137Val) c.3076T>G (p.Phe1026Val) | |
| 7 | g.117611760T= | CA1737387569 | CFTR | c.3319T= (p.Phe1107=) c.*3033T= (n.*3033T=) c.3136T= (p.Phe1046=) c.*1619T= (n.*1619T=) c.*3143T= (n.*3143T=) c.2893T= (p.Phe965=) c.67T= (p.Phe23=) c.910T= (p.Phe304=) c.969T= c.2101T= (p.Phe701=) c.3229T= (p.Phe1077=) c.144T= c.3409T= (p.Phe1137=) c.3076T= (p.Phe1026=) | |
| 7 | g.117611761T>A | CA368992527 | CFTR | c.3320T>A (p.Phe1107Tyr) c.*3034T>A (n.*3034T>A) c.3137T>A (p.Phe1046Tyr) c.*1620T>A (n.*1620T>A) c.*3144T>A (n.*3144T>A) c.2894T>A (p.Phe965Tyr) c.68T>A (p.Phe23Tyr) c.911T>A (p.Phe304Tyr) c.970T>A c.2102T>A (p.Phe701Tyr) c.3230T>A (p.Phe1077Tyr) c.145T>A c.3410T>A (p.Phe1137Tyr) c.3077T>A (p.Phe1026Tyr) | |
| 7 | g.117611761T>C | CA368992529 | CFTR | c.3320T>C (p.Phe1107Ser) c.*3034T>C (n.*3034T>C) c.3137T>C (p.Phe1046Ser) c.*1620T>C (n.*1620T>C) c.*3144T>C (n.*3144T>C) c.2894T>C (p.Phe965Ser) c.68T>C (p.Phe23Ser) c.911T>C (p.Phe304Ser) c.970T>C c.2102T>C (p.Phe701Ser) c.3230T>C (p.Phe1077Ser) c.145T>C c.3410T>C (p.Phe1137Ser) c.3077T>C (p.Phe1026Ser) | |
| 7 | g.117611761T>G | CA368992531 | CFTR | c.3320T>G (p.Phe1107Cys) c.*3034T>G (n.*3034T>G) c.3137T>G (p.Phe1046Cys) c.*1620T>G (n.*1620T>G) c.*3144T>G (n.*3144T>G) c.2894T>G (p.Phe965Cys) c.68T>G (p.Phe23Cys) c.911T>G (p.Phe304Cys) c.970T>G c.2102T>G (p.Phe701Cys) c.3230T>G (p.Phe1077Cys) c.145T>G c.3410T>G (p.Phe1137Cys) c.3077T>G (p.Phe1026Cys) | |
| 7 | g.117611762T>A | CA368992532 | CFTR | c.3321T>A (p.Phe1107Leu) c.*3035T>A (n.*3035T>A) c.3138T>A (p.Phe1046Leu) c.*1621T>A (n.*1621T>A) c.*3145T>A (n.*3145T>A) c.2895T>A (p.Phe965Leu) c.69T>A (p.Phe23Leu) c.912T>A (p.Phe304Leu) c.971T>A c.2103T>A (p.Phe701Leu) c.3231T>A (p.Phe1077Leu) c.146T>A c.3411T>A (p.Phe1137Leu) c.3078T>A (p.Phe1026Leu) | |
| 7 | g.117611762T>C | CA457230080 | CFTR | c.3321T>C (p.Phe1107=) c.*3035T>C (n.*3035T>C) c.3138T>C (p.Phe1046=) c.*1621T>C (n.*1621T>C) c.*3145T>C (n.*3145T>C) c.2895T>C (p.Phe965=) c.69T>C (p.Phe23=) c.912T>C (p.Phe304=) c.971T>C c.2103T>C (p.Phe701=) c.3231T>C (p.Phe1077=) c.146T>C c.3411T>C (p.Phe1137=) c.3078T>C (p.Phe1026=) | |
| 7 | g.117611762T>G | CA368992534 | CFTR | c.3321T>G (p.Phe1107Leu) c.*3035T>G (n.*3035T>G) c.3138T>G (p.Phe1046Leu) c.*1621T>G (n.*1621T>G) c.*3145T>G (n.*3145T>G) c.2895T>G (p.Phe965Leu) c.69T>G (p.Phe23Leu) c.912T>G (p.Phe304Leu) c.971T>G c.2103T>G (p.Phe701Leu) c.3231T>G (p.Phe1077Leu) c.146T>G c.3411T>G (p.Phe1137Leu) c.3078T>G (p.Phe1026Leu) | |
| 7 | g.117611763_117611764del | CA2580076387 | CFTR | c.3322_3323del (p.Val1108HisfsTer?) c.*3036_*3037del (n.*3036_*3037del) c.3139_3140del (p.Val1047HisfsTer?) c.*1622_*1623del (n.*1622_*1623del) c.*3146_*3147del (n.*3146_*3147del) c.2896_2897del (p.Val966HisfsTer?) c.70_71del (p.Val24HisfsTer?) c.913_914del (p.Val305HisfsTer?) c.972_973del c.2104_2105del (p.Val702HisfsTer?) c.3232_3233del (p.Val1078HisfsTer?) c.147_148del c.3412_3413del (p.Val1138HisfsTer?) c.3079_3080del (p.Val1027HisfsTer?) | ClinVar |
| 7 | g.117611763del | CA2573141590 | CFTR | c.3322del (p.Val1108SerfsTer13) c.*3036del (n.*3036del) c.3139del (p.Val1047SerfsTer13) c.*1622del (n.*1622del) c.*3146del (n.*3146del) c.2896del (p.Val966SerfsTer13) c.70del (p.Val24SerfsTer13) c.913del (p.Val305SerfsTer13) c.972del c.2104del (p.Val702SerfsTer13) c.3232del (p.Val1078SerfsTer13) c.147del c.3412del (p.Val1138SerfsTer13) c.3079del (p.Val1027SerfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611763G>A | CA368992536 | CFTR | c.3322G>A (p.Val1108Ile) c.*3036G>A (n.*3036G>A) c.3139G>A (p.Val1047Ile) c.*1622G>A (n.*1622G>A) c.*3146G>A (n.*3146G>A) c.2896G>A (p.Val966Ile) c.70G>A (p.Val24Ile) c.913G>A (p.Val305Ile) c.972G>A c.2104G>A (p.Val702Ile) c.3232G>A (p.Val1078Ile) c.147G>A c.3412G>A (p.Val1138Ile) c.3079G>A (p.Val1027Ile) | ClinVar gnomAD v4 |
| 7 | g.117611763G>C | CA327147 | CFTR | c.3322G>C (p.Val1108Leu) c.*3036G>C (n.*3036G>C) c.3139G>C (p.Val1047Leu) c.*1622G>C (n.*1622G>C) c.*3146G>C (n.*3146G>C) c.2896G>C (p.Val966Leu) c.70G>C (p.Val24Leu) c.913G>C (p.Val305Leu) c.972G>C c.2104G>C (p.Val702Leu) c.3232G>C (p.Val1078Leu) c.147G>C c.3412G>C (p.Val1138Leu) c.3079G>C (p.Val1027Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611763G= | CA1737387577 | CFTR | c.3322G= (p.Val1108=) c.*3036G= (n.*3036G=) c.3139G= (p.Val1047=) c.*1622G= (n.*1622G=) c.*3146G= (n.*3146G=) c.2896G= (p.Val966=) c.70G= (p.Val24=) c.913G= (p.Val305=) c.972G= c.2104G= (p.Val702=) c.3232G= (p.Val1078=) c.147G= c.3412G= (p.Val1138=) c.3079G= (p.Val1027=) | |
| 7 | g.117611763G>T | CA368992538 | CFTR | c.3322G>T (p.Val1108Phe) c.*3036G>T (n.*3036G>T) c.3139G>T (p.Val1047Phe) c.*1622G>T (n.*1622G>T) c.*3146G>T (n.*3146G>T) c.2896G>T (p.Val966Phe) c.70G>T (p.Val24Phe) c.913G>T (p.Val305Phe) c.972G>T c.2104G>T (p.Val702Phe) c.3232G>T (p.Val1078Phe) c.147G>T c.3412G>T (p.Val1138Phe) c.3079G>T (p.Val1027Phe) | |
| 7 | g.117611764T>A | CA368992539 | CFTR | c.3323T>A (p.Val1108Asp) c.*3037T>A (n.*3037T>A) c.3140T>A (p.Val1047Asp) c.*1623T>A (n.*1623T>A) c.*3147T>A (n.*3147T>A) c.2897T>A (p.Val966Asp) c.71T>A (p.Val24Asp) c.914T>A (p.Val305Asp) c.973T>A c.2105T>A (p.Val702Asp) c.3233T>A (p.Val1078Asp) c.148T>A c.3413T>A (p.Val1138Asp) c.3080T>A (p.Val1027Asp) | |
| 7 | g.117611764T>C | CA368992540 | CFTR | c.3323T>C (p.Val1108Ala) c.*3037T>C (n.*3037T>C) c.3140T>C (p.Val1047Ala) c.*1623T>C (n.*1623T>C) c.*3147T>C (n.*3147T>C) c.2897T>C (p.Val966Ala) c.71T>C (p.Val24Ala) c.914T>C (p.Val305Ala) c.973T>C c.2105T>C (p.Val702Ala) c.3233T>C (p.Val1078Ala) c.148T>C c.3413T>C (p.Val1138Ala) c.3080T>C (p.Val1027Ala) | |
| 7 | g.117611764T>G | CA368992541 | CFTR | c.3323T>G (p.Val1108Gly) c.*3037T>G (n.*3037T>G) c.3140T>G (p.Val1047Gly) c.*1623T>G (n.*1623T>G) c.*3147T>G (n.*3147T>G) c.2897T>G (p.Val966Gly) c.71T>G (p.Val24Gly) c.914T>G (p.Val305Gly) c.973T>G c.2105T>G (p.Val702Gly) c.3233T>G (p.Val1078Gly) c.148T>G c.3413T>G (p.Val1138Gly) c.3080T>G (p.Val1027Gly) | |
| 7 | g.117611764_117611765del | CA913111898 | CFTR | c.3323_3324del (p.Val1108AspfsTer?) c.*3037_*3038del (n.*3037_*3038del) c.3140_3141del (p.Val1047AspfsTer?) c.*1623_*1624del (n.*1623_*1624del) c.*3147_*3148del (n.*3147_*3148del) c.2897_2898del (p.Val966AspfsTer?) c.71_72del (p.Val24AspfsTer?) c.914_915del (p.Val305AspfsTer?) c.973_974del c.2105_2106del (p.Val702AspfsTer?) c.3233_3234del (p.Val1078AspfsTer?) c.148_149del c.3413_3414del (p.Val1138AspfsTer?) c.3080_3081del (p.Val1027AspfsTer?) | |
| 7 | g.117611764_117611765delinsTC | CA1737387588 | CFTR | c.3323_3324delinsTC (p.Val1108=) c.*3037_*3038delinsTC (n.*3037_*3038delinsTC) c.3140_3141delinsTC (p.Val1047=) c.*1623_*1624delinsTC (n.*1623_*1624delinsTC) c.*3147_*3148delinsTC (n.*3147_*3148delinsTC) c.2897_2898delinsTC (p.Val966=) c.71_72delinsTC (p.Val24=) c.914_915delinsTC (p.Val305=) c.973_974delinsTC c.2105_2106delinsTC (p.Val702=) c.3233_3234delinsTC (p.Val1078=) c.148_149delinsTC c.3413_3414delinsTC (p.Val1138=) c.3080_3081delinsTC (p.Val1027=) | |
| 7 | g.117611765del | CA658822508 | CFTR | c.3324del (p.Ile1109SerfsTer12) c.*3038del (n.*3038del) c.3141del (p.Ile1048SerfsTer12) c.*1624del (n.*1624del) c.*3148del (n.*3148del) c.2898del (p.Ile967SerfsTer12) c.72del (p.Ile25SerfsTer12) c.915del (p.Ile306SerfsTer12) c.974del c.2106del (p.Ile703SerfsTer12) c.3234del (p.Ile1079SerfsTer12) c.149del c.3414del (p.Ile1139SerfsTer12) c.3081del (p.Ile1028SerfsTer12) | ClinVar dbSNP |
| 7 | g.117611765C>A | CA457230081 | CFTR | c.3324C>A (p.Val1108=) c.*3038C>A (n.*3038C>A) c.3141C>A (p.Val1047=) c.*1624C>A (n.*1624C>A) c.*3148C>A (n.*3148C>A) c.2898C>A (p.Val966=) c.72C>A (p.Val24=) c.915C>A (p.Val305=) c.974C>A c.2106C>A (p.Val702=) c.3234C>A (p.Val1078=) c.149C>A c.3414C>A (p.Val1138=) c.3081C>A (p.Val1027=) | ClinVar dbSNP |
| 7 | g.117611765C>G | CA457230082 | CFTR | c.3324C>G (p.Val1108=) c.*3038C>G (n.*3038C>G) c.3141C>G (p.Val1047=) c.*1624C>G (n.*1624C>G) c.*3148C>G (n.*3148C>G) c.2898C>G (p.Val966=) c.72C>G (p.Val24=) c.915C>G (p.Val305=) c.974C>G c.2106C>G (p.Val702=) c.3234C>G (p.Val1078=) c.149C>G c.3414C>G (p.Val1138=) c.3081C>G (p.Val1027=) | |
| 7 | g.117611765C>T | CA457230083 | CFTR | c.3324C>T (p.Val1108=) c.*3038C>T (n.*3038C>T) c.3141C>T (p.Val1047=) c.*1624C>T (n.*1624C>T) c.*3148C>T (n.*3148C>T) c.2898C>T (p.Val966=) c.72C>T (p.Val24=) c.915C>T (p.Val305=) c.974C>T c.2106C>T (p.Val702=) c.3234C>T (p.Val1078=) c.149C>T c.3414C>T (p.Val1138=) c.3081C>T (p.Val1027=) | ClinVar dbSNP |
| 7 | g.117611766A= | CA1737387607 | CFTR | c.3325A= (p.Ile1109=) c.*3039A= (n.*3039A=) c.3142A= (p.Ile1048=) c.*1625A= (n.*1625A=) c.*3149A= (n.*3149A=) c.2899A= (p.Ile967=) c.73A= (p.Ile25=) c.916A= (p.Ile306=) c.975A= c.2107A= (p.Ile703=) c.3235A= (p.Ile1079=) c.150A= c.3415A= (p.Ile1139=) c.3082A= (p.Ile1028=) | |
| 7 | g.117611766A>C | CA368992544 | CFTR | c.3325A>C (p.Ile1109Leu) c.*3039A>C (n.*3039A>C) c.3142A>C (p.Ile1048Leu) c.*1625A>C (n.*1625A>C) c.*3149A>C (n.*3149A>C) c.2899A>C (p.Ile967Leu) c.73A>C (p.Ile25Leu) c.916A>C (p.Ile306Leu) c.975A>C c.2107A>C (p.Ile703Leu) c.3235A>C (p.Ile1079Leu) c.150A>C c.3415A>C (p.Ile1139Leu) c.3082A>C (p.Ile1028Leu) |