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.117611610A= | CA1737386747 | CFTR | c.3169A= (p.Thr1057=) c.*2883A= (n.*2883A=) c.2986A= (p.Thr996=) c.*1469A= (n.*1469A=) c.*2993A= (n.*2993A=) c.2743A= (p.Thr915=) c.760A= (p.Thr254=) c.819A= c.1951A= (p.Thr651=) c.3079A= (p.Thr1027=) c.3259A= (p.Thr1087=) c.2926A= (p.Thr976=) | |
| 7 | g.117611610A>C | CA368991908 | CFTR | c.3169A>C (p.Thr1057Pro) c.*2883A>C (n.*2883A>C) c.2986A>C (p.Thr996Pro) c.*1469A>C (n.*1469A>C) c.*2993A>C (n.*2993A>C) c.2743A>C (p.Thr915Pro) c.760A>C (p.Thr254Pro) c.819A>C c.1951A>C (p.Thr651Pro) c.3079A>C (p.Thr1027Pro) c.3259A>C (p.Thr1087Pro) c.2926A>C (p.Thr976Pro) | |
| 7 | g.117611610A>G | CA327072 | CFTR | c.3169A>G (p.Thr1057Ala) c.*2883A>G (n.*2883A>G) c.2986A>G (p.Thr996Ala) c.*1469A>G (n.*1469A>G) c.*2993A>G (n.*2993A>G) c.2743A>G (p.Thr915Ala) c.760A>G (p.Thr254Ala) c.819A>G c.1951A>G (p.Thr651Ala) c.3079A>G (p.Thr1027Ala) c.3259A>G (p.Thr1087Ala) c.2926A>G (p.Thr976Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611610A>T | CA368991912 | CFTR | c.3169A>T (p.Thr1057Ser) c.*2883A>T (n.*2883A>T) c.2986A>T (p.Thr996Ser) c.*1469A>T (n.*1469A>T) c.*2993A>T (n.*2993A>T) c.2743A>T (p.Thr915Ser) c.760A>T (p.Thr254Ser) c.819A>T c.1951A>T (p.Thr651Ser) c.3079A>T (p.Thr1027Ser) c.3259A>T (p.Thr1087Ser) c.2926A>T (p.Thr976Ser) | |
| 7 | g.117611611C>A | CA368991916 | CFTR | c.3170C>A (p.Thr1057Lys) c.*2884C>A (n.*2884C>A) c.2987C>A (p.Thr996Lys) c.*1470C>A (n.*1470C>A) c.*2994C>A (n.*2994C>A) c.2744C>A (p.Thr915Lys) c.761C>A (p.Thr254Lys) c.820C>A c.1952C>A (p.Thr651Lys) c.3080C>A (p.Thr1027Lys) c.3260C>A (p.Thr1087Lys) c.2927C>A (p.Thr976Lys) | |
| 7 | g.117611611C>G | CA368991917 | CFTR | c.3170C>G (p.Thr1057Arg) c.*2884C>G (n.*2884C>G) c.2987C>G (p.Thr996Arg) c.*1470C>G (n.*1470C>G) c.*2994C>G (n.*2994C>G) c.2744C>G (p.Thr915Arg) c.761C>G (p.Thr254Arg) c.820C>G c.1952C>G (p.Thr651Arg) c.3080C>G (p.Thr1027Arg) c.3260C>G (p.Thr1087Arg) c.2927C>G (p.Thr976Arg) | gnomAD v4 |
| 7 | g.117611611C>T | CA368991919 | CFTR | c.3170C>T (p.Thr1057Ile) c.*2884C>T (n.*2884C>T) c.2987C>T (p.Thr996Ile) c.*1470C>T (n.*1470C>T) c.*2994C>T (n.*2994C>T) c.2744C>T (p.Thr915Ile) c.761C>T (p.Thr254Ile) c.820C>T c.1952C>T (p.Thr651Ile) c.3080C>T (p.Thr1027Ile) c.3260C>T (p.Thr1087Ile) c.2927C>T (p.Thr976Ile) | gnomAD v4 |
| 7 | g.117611612A>C | CA457229990 | CFTR | c.3171A>C (p.Thr1057=) c.*2885A>C (n.*2885A>C) c.2988A>C (p.Thr996=) c.*1471A>C (n.*1471A>C) c.*2995A>C (n.*2995A>C) c.2745A>C (p.Thr915=) c.762A>C (p.Thr254=) c.821A>C c.1953A>C (p.Thr651=) c.3081A>C (p.Thr1027=) c.3261A>C (p.Thr1087=) c.2928A>C (p.Thr976=) | |
| 7 | g.117611612A>G | CA457229991 | CFTR | c.3171A>G (p.Thr1057=) c.*2885A>G (n.*2885A>G) c.2988A>G (p.Thr996=) c.*1471A>G (n.*1471A>G) c.*2995A>G (n.*2995A>G) c.2745A>G (p.Thr915=) c.762A>G (p.Thr254=) c.821A>G c.1953A>G (p.Thr651=) c.3081A>G (p.Thr1027=) c.3261A>G (p.Thr1087=) c.2928A>G (p.Thr976=) | |
| 7 | g.117611612A>T | CA457229992 | CFTR | c.3171A>T (p.Thr1057=) c.*2885A>T (n.*2885A>T) c.2988A>T (p.Thr996=) c.*1471A>T (n.*1471A>T) c.*2995A>T (n.*2995A>T) c.2745A>T (p.Thr915=) c.762A>T (p.Thr254=) c.821A>T c.1953A>T (p.Thr651=) c.3081A>T (p.Thr1027=) c.3261A>T (p.Thr1087=) c.2928A>T (p.Thr976=) | |
| 7 | g.117611613A>C | CA368991922 | CFTR | c.3172A>C (p.Ser1058Arg) c.*2886A>C (n.*2886A>C) c.2989A>C (p.Ser997Arg) c.*1472A>C (n.*1472A>C) c.*2996A>C (n.*2996A>C) c.2746A>C (p.Ser916Arg) c.763A>C (p.Ser255Arg) c.822A>C c.1954A>C (p.Ser652Arg) c.3082A>C (p.Ser1028Arg) c.3262A>C (p.Ser1088Arg) c.2929A>C (p.Ser977Arg) | |
| 7 | g.117611613A>G | CA368991927 | CFTR | c.3172A>G (p.Ser1058Gly) c.*2886A>G (n.*2886A>G) c.2989A>G (p.Ser997Gly) c.*1472A>G (n.*1472A>G) c.*2996A>G (n.*2996A>G) c.2746A>G (p.Ser916Gly) c.763A>G (p.Ser255Gly) c.822A>G c.1954A>G (p.Ser652Gly) c.3082A>G (p.Ser1028Gly) c.3262A>G (p.Ser1088Gly) c.2929A>G (p.Ser977Gly) | |
| 7 | g.117611613A>T | CA368991925 | CFTR | c.3172A>T (p.Ser1058Cys) c.*2886A>T (n.*2886A>T) c.2989A>T (p.Ser997Cys) c.*1472A>T (n.*1472A>T) c.*2996A>T (n.*2996A>T) c.2746A>T (p.Ser916Cys) c.763A>T (p.Ser255Cys) c.822A>T c.1954A>T (p.Ser652Cys) c.3082A>T (p.Ser1028Cys) c.3262A>T (p.Ser1088Cys) c.2929A>T (p.Ser977Cys) | |
| 7 | g.117611614G>A | CA368991929 | CFTR | c.3173G>A (p.Ser1058Asn) c.*2887G>A (n.*2887G>A) c.2990G>A (p.Ser997Asn) c.*1473G>A (n.*1473G>A) c.*2997G>A (n.*2997G>A) c.2747G>A (p.Ser916Asn) c.764G>A (p.Ser255Asn) c.823G>A c.1955G>A (p.Ser652Asn) c.3083G>A (p.Ser1028Asn) c.3263G>A (p.Ser1088Asn) c.2930G>A (p.Ser977Asn) | |
| 7 | g.117611614G>C | CA368991932 | CFTR | c.3173G>C (p.Ser1058Thr) c.*2887G>C (n.*2887G>C) c.2990G>C (p.Ser997Thr) c.*1473G>C (n.*1473G>C) c.*2997G>C (n.*2997G>C) c.2747G>C (p.Ser916Thr) c.764G>C (p.Ser255Thr) c.823G>C c.1955G>C (p.Ser652Thr) c.3083G>C (p.Ser1028Thr) c.3263G>C (p.Ser1088Thr) c.2930G>C (p.Ser977Thr) | |
| 7 | g.117611614G>T | CA368991931 | CFTR | c.3173G>T (p.Ser1058Ile) c.*2887G>T (n.*2887G>T) c.2990G>T (p.Ser997Ile) c.*1473G>T (n.*1473G>T) c.*2997G>T (n.*2997G>T) c.2747G>T (p.Ser916Ile) c.764G>T (p.Ser255Ile) c.823G>T c.1955G>T (p.Ser652Ile) c.3083G>T (p.Ser1028Ile) c.3263G>T (p.Ser1088Ile) c.2930G>T (p.Ser977Ile) | |
| 7 | g.117611615C>A | CA368991934 | CFTR | c.3174C>A (p.Ser1058Arg) c.*2888C>A (n.*2888C>A) c.2991C>A (p.Ser997Arg) c.*1474C>A (n.*1474C>A) c.*2998C>A (n.*2998C>A) c.2748C>A (p.Ser916Arg) c.765C>A (p.Ser255Arg) c.824C>A c.1956C>A (p.Ser652Arg) c.3084C>A (p.Ser1028Arg) c.3264C>A (p.Ser1088Arg) c.2931C>A (p.Ser977Arg) | gnomAD v4 |
| 7 | g.117611615C= | CA1737386765 | CFTR | c.3174C= (p.Ser1058=) c.*2888C= (n.*2888C=) c.2991C= (p.Ser997=) c.*1474C= (n.*1474C=) c.*2998C= (n.*2998C=) c.2748C= (p.Ser916=) c.765C= (p.Ser255=) c.824C= c.1956C= (p.Ser652=) c.3084C= (p.Ser1028=) c.3264C= (p.Ser1088=) c.2931C= (p.Ser977=) | |
| 7 | g.117611615C>G | CA368991937 | CFTR | c.3174C>G (p.Ser1058Arg) c.*2888C>G (n.*2888C>G) c.2991C>G (p.Ser997Arg) c.*1474C>G (n.*1474C>G) c.*2998C>G (n.*2998C>G) c.2748C>G (p.Ser916Arg) c.765C>G (p.Ser255Arg) c.824C>G c.1956C>G (p.Ser652Arg) c.3084C>G (p.Ser1028Arg) c.3264C>G (p.Ser1088Arg) c.2931C>G (p.Ser977Arg) | |
| 7 | g.117611615C>T | CA457229993 | CFTR | c.3174C>T (p.Ser1058=) c.*2888C>T (n.*2888C>T) c.2991C>T (p.Ser997=) c.*1474C>T (n.*1474C>T) c.*2998C>T (n.*2998C>T) c.2748C>T (p.Ser916=) c.765C>T (p.Ser255=) c.824C>T c.1956C>T (p.Ser652=) c.3084C>T (p.Ser1028=) c.3264C>T (p.Ser1088=) c.2931C>T (p.Ser977=) | ClinVar dbSNP |
| 7 | g.117611616T>A | CA368991939 | CFTR | c.3175T>A (p.Leu1059Ile) c.*2889T>A (n.*2889T>A) c.2992T>A (p.Leu998Ile) c.*1475T>A (n.*1475T>A) c.*2999T>A (n.*2999T>A) c.2749T>A (p.Leu917Ile) c.766T>A (p.Leu256Ile) c.825T>A c.1957T>A (p.Leu653Ile) c.3085T>A (p.Leu1029Ile) c.3265T>A (p.Leu1089Ile) c.2932T>A (p.Leu978Ile) | dbSNP |
| 7 | g.117611616T>C | CA4451406 | CFTR | c.3175T>C (p.Leu1059=) c.*2889T>C (n.*2889T>C) c.2992T>C (p.Leu998=) c.*1475T>C (n.*1475T>C) c.*2999T>C (n.*2999T>C) c.2749T>C (p.Leu917=) c.766T>C (p.Leu256=) c.825T>C c.1957T>C (p.Leu653=) c.3085T>C (p.Leu1029=) c.3265T>C (p.Leu1089=) c.2932T>C (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611616T>G | CA368991941 | CFTR | c.3175T>G (p.Leu1059Val) c.*2889T>G (n.*2889T>G) c.2992T>G (p.Leu998Val) c.*1475T>G (n.*1475T>G) c.*2999T>G (n.*2999T>G) c.2749T>G (p.Leu917Val) c.766T>G (p.Leu256Val) c.825T>G c.1957T>G (p.Leu653Val) c.3085T>G (p.Leu1029Val) c.3265T>G (p.Leu1089Val) c.2932T>G (p.Leu978Val) | |
| 7 | g.117611616T= | CA1737386770 | CFTR | c.3175T= (p.Leu1059=) c.*2889T= (n.*2889T=) c.2992T= (p.Leu998=) c.*1475T= (n.*1475T=) c.*2999T= (n.*2999T=) c.2749T= (p.Leu917=) c.766T= (p.Leu256=) c.825T= c.1957T= (p.Leu653=) c.3085T= (p.Leu1029=) c.3265T= (p.Leu1089=) c.2932T= (p.Leu978=) | |
| 7 | g.117611617T>A | CA368991945 | CFTR | c.3176T>A (p.Leu1059Ter) c.*2890T>A (n.*2890T>A) c.2993T>A (p.Leu998Ter) c.*1476T>A (n.*1476T>A) c.*3000T>A (n.*3000T>A) c.2750T>A (p.Leu917Ter) c.767T>A (p.Leu256Ter) c.826T>A c.1958T>A (p.Leu653Ter) c.3086T>A (p.Leu1029Ter) c.1T>A c.3266T>A (p.Leu1089Ter) c.2933T>A (p.Leu978Ter) | |
| 7 | g.117611617T>C | CA368991946 | CFTR | c.3176T>C (p.Leu1059Ser) c.*2890T>C (n.*2890T>C) c.2993T>C (p.Leu998Ser) c.*1476T>C (n.*1476T>C) c.*3000T>C (n.*3000T>C) c.2750T>C (p.Leu917Ser) c.767T>C (p.Leu256Ser) c.826T>C c.1958T>C (p.Leu653Ser) c.3086T>C (p.Leu1029Ser) c.1T>C c.3266T>C (p.Leu1089Ser) c.2933T>C (p.Leu978Ser) | |
| 7 | g.117611617T>G | CA327074 | CFTR | c.3176T>G (p.Leu1059Ter) c.*2890T>G (n.*2890T>G) c.2993T>G (p.Leu998Ter) c.*1476T>G (n.*1476T>G) c.*3000T>G (n.*3000T>G) c.2750T>G (p.Leu917Ter) c.767T>G (p.Leu256Ter) c.826T>G c.1958T>G (p.Leu653Ter) c.3086T>G (p.Leu1029Ter) c.1T>G c.3266T>G (p.Leu1089Ter) c.2933T>G (p.Leu978Ter) | ClinVar dbSNP |
| 7 | g.117611617T= | CA1737386774 | CFTR | c.3176T= (p.Leu1059=) c.*2890T= (n.*2890T=) c.2993T= (p.Leu998=) c.*1476T= (n.*1476T=) c.*3000T= (n.*3000T=) c.2750T= (p.Leu917=) c.767T= (p.Leu256=) c.826T= c.1958T= (p.Leu653=) c.3086T= (p.Leu1029=) c.1T= c.3266T= (p.Leu1089=) c.2933T= (p.Leu978=) | |
| 7 | g.117611618A= | CA1737386789 | CFTR | c.3177A= (p.Leu1059=) c.*2891A= (n.*2891A=) c.2994A= (p.Leu998=) c.*1477A= (n.*1477A=) c.*3001A= (n.*3001A=) c.2751A= (p.Leu917=) c.768A= (p.Leu256=) c.827A= c.1959A= (p.Leu653=) c.3087A= (p.Leu1029=) c.2A= c.3267A= (p.Leu1089=) c.2934A= (p.Leu978=) | |
| 7 | g.117611618A>C | CA368991949 | CFTR | c.3177A>C (p.Leu1059Phe) c.*2891A>C (n.*2891A>C) c.2994A>C (p.Leu998Phe) c.*1477A>C (n.*1477A>C) c.*3001A>C (n.*3001A>C) c.2751A>C (p.Leu917Phe) c.768A>C (p.Leu256Phe) c.827A>C c.1959A>C (p.Leu653Phe) c.3087A>C (p.Leu1029Phe) c.2A>C c.3267A>C (p.Leu1089Phe) c.2934A>C (p.Leu978Phe) | |
| 7 | g.117611618A>G | CA327076 | CFTR | c.3177A>G (p.Leu1059=) c.*2891A>G (n.*2891A>G) c.2994A>G (p.Leu998=) c.*1477A>G (n.*1477A>G) c.*3001A>G (n.*3001A>G) c.2751A>G (p.Leu917=) c.768A>G (p.Leu256=) c.827A>G c.1959A>G (p.Leu653=) c.3087A>G (p.Leu1029=) c.2A>G c.3267A>G (p.Leu1089=) c.2934A>G (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611618A>T | CA368991952 | CFTR | c.3177A>T (p.Leu1059Phe) c.*2891A>T (n.*2891A>T) c.2994A>T (p.Leu998Phe) c.*1477A>T (n.*1477A>T) c.*3001A>T (n.*3001A>T) c.2751A>T (p.Leu917Phe) c.768A>T (p.Leu256Phe) c.827A>T c.1959A>T (p.Leu653Phe) c.3087A>T (p.Leu1029Phe) c.2A>T c.3267A>T (p.Leu1089Phe) c.2934A>T (p.Leu978Phe) | |
| 7 | g.117611621del | CA2580076368 | CFTR | c.3180del (p.Gly1061AspfsTer22) c.*2894del (n.*2894del) c.2997del (p.Gly1000AspfsTer22) c.*1480del (n.*1480del) c.*3004del (n.*3004del) c.2754del (p.Gly919AspfsTer22) c.771del (p.Gly258AspfsTer22) c.830del c.1962del (p.Gly655AspfsTer22) c.3090del (p.Gly1031AspfsTer22) c.5del c.3270del (p.Gly1091AspfsTer22) c.2937del (p.Gly980AspfsTer22) | ClinVar |
| 7 | g.117611619A= | CA1737386800 | CFTR | c.3178A= (p.Lys1060=) c.*2892A= (n.*2892A=) c.2995A= (p.Lys999=) c.*1478A= (n.*1478A=) c.*3002A= (n.*3002A=) c.2752A= (p.Lys918=) c.769A= (p.Lys257=) c.828A= c.1960A= (p.Lys654=) c.3088A= (p.Lys1030=) c.3A= c.3268A= (p.Lys1090=) c.2935A= (p.Lys979=) | |
| 7 | g.117611619A>C | CA368991954 | CFTR | c.3178A>C (p.Lys1060Gln) c.*2892A>C (n.*2892A>C) c.2995A>C (p.Lys999Gln) c.*1478A>C (n.*1478A>C) c.*3002A>C (n.*3002A>C) c.2752A>C (p.Lys918Gln) c.769A>C (p.Lys257Gln) c.828A>C c.1960A>C (p.Lys654Gln) c.3088A>C (p.Lys1030Gln) c.3A>C c.3268A>C (p.Lys1090Gln) c.2935A>C (p.Lys979Gln) | |
| 7 | g.117611619A>G | CA368991956 | CFTR | c.3178A>G (p.Lys1060Glu) c.*2892A>G (n.*2892A>G) c.2995A>G (p.Lys999Glu) c.*1478A>G (n.*1478A>G) c.*3002A>G (n.*3002A>G) c.2752A>G (p.Lys918Glu) c.769A>G (p.Lys257Glu) c.828A>G c.1960A>G (p.Lys654Glu) c.3088A>G (p.Lys1030Glu) c.3A>G c.3268A>G (p.Lys1090Glu) c.2935A>G (p.Lys979Glu) | ClinVar dbSNP |
| 7 | g.117611619A>T | CA368991958 | CFTR | c.3178A>T (p.Lys1060Ter) c.*2892A>T (n.*2892A>T) c.2995A>T (p.Lys999Ter) c.*1478A>T (n.*1478A>T) c.*3002A>T (n.*3002A>T) c.2752A>T (p.Lys918Ter) c.769A>T (p.Lys257Ter) c.828A>T c.1960A>T (p.Lys654Ter) c.3088A>T (p.Lys1030Ter) c.3A>T c.3268A>T (p.Lys1090Ter) c.2935A>T (p.Lys979Ter) | |
| 7 | g.117611620A= | CA1737386805 | CFTR | c.3179A= (p.Lys1060=) c.*2893A= (n.*2893A=) c.2996A= (p.Lys999=) c.*1479A= (n.*1479A=) c.*3003A= (n.*3003A=) c.2753A= (p.Lys918=) c.770A= (p.Lys257=) c.829A= c.1961A= (p.Lys654=) c.3089A= (p.Lys1030=) c.4A= c.3269A= (p.Lys1090=) c.2936A= (p.Lys979=) | |
| 7 | g.117611620A>C | CA327078 | CFTR | c.3179A>C (p.Lys1060Thr) c.*2893A>C (n.*2893A>C) c.2996A>C (p.Lys999Thr) c.*1479A>C (n.*1479A>C) c.*3003A>C (n.*3003A>C) c.2753A>C (p.Lys918Thr) c.770A>C (p.Lys257Thr) c.829A>C c.1961A>C (p.Lys654Thr) c.3089A>C (p.Lys1030Thr) c.4A>C c.3269A>C (p.Lys1090Thr) c.2936A>C (p.Lys979Thr) | ClinVar dbSNP |