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.117611633_117611717del | CA2697557585 | CFTR | c.3192_3276del (p.Leu1065CysfsTer9) c.*2906_*2990del (n.*2906_*2990del) c.3009_3093del (p.Leu1004CysfsTer9) c.*1492_*1576del (n.*1492_*1576del) c.*3016_*3100del (n.*3016_*3100del) c.2766_2850del (p.Leu923CysfsTer9) c.783_867del (p.Leu262CysfsTer9) c.842_926del c.1974_2058del (p.Leu659CysfsTer9) c.3102_3186del (p.Leu1035CysfsTer9) c.17_101del c.3282_3366del (p.Leu1095CysfsTer9) c.2949_3033del (p.Leu984CysfsTer9) | ClinVar |
| 7 | g.117611695A= | CA1737387156 | CFTR | c.3254A= (p.His1085=) c.*2968A= (n.*2968A=) c.3071A= (p.His1024=) c.*1554A= (n.*1554A=) c.*3078A= (n.*3078A=) c.2828A= (p.His943=) c.2A= (p.His1=) c.845A= (p.His282=) c.904A= c.2036A= (p.His679=) c.3164A= (p.His1055=) c.79A= c.3344A= (p.His1115=) c.3011A= (p.His1004=) | |
| 7 | g.117611695A>C | CA368992270 | CFTR | c.3254A>C (p.His1085Pro) c.*2968A>C (n.*2968A>C) c.3071A>C (p.His1024Pro) c.*1554A>C (n.*1554A>C) c.*3078A>C (n.*3078A>C) c.2828A>C (p.His943Pro) c.2A>C (p.His1Pro) c.845A>C (p.His282Pro) c.904A>C c.2036A>C (p.His679Pro) c.3164A>C (p.His1055Pro) c.79A>C c.3344A>C (p.His1115Pro) c.3011A>C (p.His1004Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611695A>G | CA325598 | CFTR | c.3254A>G (p.His1085Arg) c.*2968A>G (n.*2968A>G) c.3071A>G (p.His1024Arg) c.*1554A>G (n.*1554A>G) c.*3078A>G (n.*3078A>G) c.2828A>G (p.His943Arg) c.2A>G (p.His1Arg) c.845A>G (p.His282Arg) c.904A>G c.2036A>G (p.His679Arg) c.3164A>G (p.His1055Arg) c.79A>G c.3344A>G (p.His1115Arg) c.3011A>G (p.His1004Arg) | ClinVar dbSNP |
| 7 | g.117611695A>T | CA368992273 | CFTR | c.3254A>T (p.His1085Leu) c.*2968A>T (n.*2968A>T) c.3071A>T (p.His1024Leu) c.*1554A>T (n.*1554A>T) c.*3078A>T (n.*3078A>T) c.2828A>T (p.His943Leu) c.2A>T (p.His1Leu) c.845A>T (p.His282Leu) c.904A>T c.2036A>T (p.His679Leu) c.3164A>T (p.His1055Leu) c.79A>T c.3344A>T (p.His1115Leu) c.3011A>T (p.His1004Leu) | |
| 7 | g.117611696T>A | CA368992275 | CFTR | c.3255T>A (p.His1085Gln) c.*2969T>A (n.*2969T>A) c.3072T>A (p.His1024Gln) c.*1555T>A (n.*1555T>A) c.*3079T>A (n.*3079T>A) c.2829T>A (p.His943Gln) c.3T>A (p.His1Gln) c.846T>A (p.His282Gln) c.905T>A c.2037T>A (p.His679Gln) c.3165T>A (p.His1055Gln) c.80T>A c.3345T>A (p.His1115Gln) c.3012T>A (p.His1004Gln) | |
| 7 | g.117611696T>C | CA457230045 | CFTR | c.3255T>C (p.His1085=) c.*2969T>C (n.*2969T>C) c.3072T>C (p.His1024=) c.*1555T>C (n.*1555T>C) c.*3079T>C (n.*3079T>C) c.2829T>C (p.His943=) c.3T>C (p.His1=) c.846T>C (p.His282=) c.905T>C c.2037T>C (p.His679=) c.3165T>C (p.His1055=) c.80T>C c.3345T>C (p.His1115=) c.3012T>C (p.His1004=) | |
| 7 | g.117611696T>G | CA368992276 | CFTR | c.3255T>G (p.His1085Gln) c.*2969T>G (n.*2969T>G) c.3072T>G (p.His1024Gln) c.*1555T>G (n.*1555T>G) c.*3079T>G (n.*3079T>G) c.2829T>G (p.His943Gln) c.3T>G (p.His1Gln) c.846T>G (p.His282Gln) c.905T>G c.2037T>G (p.His679Gln) c.3165T>G (p.His1055Gln) c.80T>G c.3345T>G (p.His1115Gln) c.3012T>G (p.His1004Gln) | |
| 7 | g.117611697A= | CA1737387169 | CFTR | c.3256A= (p.Thr1086=) c.*2970A= (n.*2970A=) c.3073A= (p.Thr1025=) c.*1556A= (n.*1556A=) c.*3080A= (n.*3080A=) c.2830A= (p.Thr944=) c.4A= (p.Thr2=) c.847A= (p.Thr283=) c.906A= c.2038A= (p.Thr680=) c.3166A= (p.Thr1056=) c.81A= c.3346A= (p.Thr1116=) c.3013A= (p.Thr1005=) | |
| 7 | g.117611697A>C | CA368992279 | CFTR | c.3256A>C (p.Thr1086Pro) c.*2970A>C (n.*2970A>C) c.3073A>C (p.Thr1025Pro) c.*1556A>C (n.*1556A>C) c.*3080A>C (n.*3080A>C) c.2830A>C (p.Thr944Pro) c.4A>C (p.Thr2Pro) c.847A>C (p.Thr283Pro) c.906A>C c.2038A>C (p.Thr680Pro) c.3166A>C (p.Thr1056Pro) c.81A>C c.3346A>C (p.Thr1116Pro) c.3013A>C (p.Thr1005Pro) | |
| 7 | g.117611697A>G | CA368992280 | CFTR | c.3256A>G (p.Thr1086Ala) c.*2970A>G (n.*2970A>G) c.3073A>G (p.Thr1025Ala) c.*1556A>G (n.*1556A>G) c.*3080A>G (n.*3080A>G) c.2830A>G (p.Thr944Ala) c.4A>G (p.Thr2Ala) c.847A>G (p.Thr283Ala) c.906A>G c.2038A>G (p.Thr680Ala) c.3166A>G (p.Thr1056Ala) c.81A>G c.3346A>G (p.Thr1116Ala) c.3013A>G (p.Thr1005Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611697A>T | CA16612278 | CFTR | c.3256A>T (p.Thr1086Ser) c.*2970A>T (n.*2970A>T) c.3073A>T (p.Thr1025Ser) c.*1556A>T (n.*1556A>T) c.*3080A>T (n.*3080A>T) c.2830A>T (p.Thr944Ser) c.4A>T (p.Thr2Ser) c.847A>T (p.Thr283Ser) c.906A>T c.2038A>T (p.Thr680Ser) c.3166A>T (p.Thr1056Ser) c.81A>T c.3346A>T (p.Thr1116Ser) c.3013A>T (p.Thr1005Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611698C>A | CA368992286 | CFTR | c.3257C>A (p.Thr1086Asn) c.*2971C>A (n.*2971C>A) c.3074C>A (p.Thr1025Asn) c.*1557C>A (n.*1557C>A) c.*3081C>A (n.*3081C>A) c.2831C>A (p.Thr944Asn) c.5C>A (p.Thr2Asn) c.848C>A (p.Thr283Asn) c.907C>A c.2039C>A (p.Thr680Asn) c.3167C>A (p.Thr1056Asn) c.82C>A c.3347C>A (p.Thr1116Asn) c.3014C>A (p.Thr1005Asn) | |
| 7 | g.117611698C= | CA1737387180 | CFTR | c.3257C= (p.Thr1086=) c.*2971C= (n.*2971C=) c.3074C= (p.Thr1025=) c.*1557C= (n.*1557C=) c.*3081C= (n.*3081C=) c.2831C= (p.Thr944=) c.5C= (p.Thr2=) c.848C= (p.Thr283=) c.907C= c.2039C= (p.Thr680=) c.3167C= (p.Thr1056=) c.82C= c.3347C= (p.Thr1116=) c.3014C= (p.Thr1005=) | |
| 7 | g.117611698C>G | CA368992283 | CFTR | c.3257C>G (p.Thr1086Ser) c.*2971C>G (n.*2971C>G) c.3074C>G (p.Thr1025Ser) c.*1557C>G (n.*1557C>G) c.*3081C>G (n.*3081C>G) c.2831C>G (p.Thr944Ser) c.5C>G (p.Thr2Ser) c.848C>G (p.Thr283Ser) c.907C>G c.2039C>G (p.Thr680Ser) c.3167C>G (p.Thr1056Ser) c.82C>G c.3347C>G (p.Thr1116Ser) c.3014C>G (p.Thr1005Ser) | |
| 7 | g.117611698C>T | CA327112 | CFTR | c.3257C>T (p.Thr1086Ile) c.*2971C>T (n.*2971C>T) c.3074C>T (p.Thr1025Ile) c.*1557C>T (n.*1557C>T) c.*3081C>T (n.*3081C>T) c.2831C>T (p.Thr944Ile) c.5C>T (p.Thr2Ile) c.848C>T (p.Thr283Ile) c.907C>T c.2039C>T (p.Thr680Ile) c.3167C>T (p.Thr1056Ile) c.82C>T c.3347C>T (p.Thr1116Ile) c.3014C>T (p.Thr1005Ile) | ClinVar dbSNP |
| 7 | g.117611699T>A | CA457230047 | CFTR | c.3258T>A (p.Thr1086=) c.*2972T>A (n.*2972T>A) c.3075T>A (p.Thr1025=) c.*1558T>A (n.*1558T>A) c.*3082T>A (n.*3082T>A) c.2832T>A (p.Thr944=) c.6T>A (p.Thr2=) c.849T>A (p.Thr283=) c.908T>A c.2040T>A (p.Thr680=) c.3168T>A (p.Thr1056=) c.83T>A c.3348T>A (p.Thr1116=) c.3015T>A (p.Thr1005=) | |
| 7 | g.117611699T>C | CA457230048 | CFTR | c.3258T>C (p.Thr1086=) c.*2972T>C (n.*2972T>C) c.3075T>C (p.Thr1025=) c.*1558T>C (n.*1558T>C) c.*3082T>C (n.*3082T>C) c.2832T>C (p.Thr944=) c.6T>C (p.Thr2=) c.849T>C (p.Thr283=) c.908T>C c.2040T>C (p.Thr680=) c.3168T>C (p.Thr1056=) c.83T>C c.3348T>C (p.Thr1116=) c.3015T>C (p.Thr1005=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611699T>G | CA457230046 | CFTR | c.3258T>G (p.Thr1086=) c.*2972T>G (n.*2972T>G) c.3075T>G (p.Thr1025=) c.*1558T>G (n.*1558T>G) c.*3082T>G (n.*3082T>G) c.2832T>G (p.Thr944=) c.6T>G (p.Thr2=) c.849T>G (p.Thr283=) c.908T>G c.2040T>G (p.Thr680=) c.3168T>G (p.Thr1056=) c.83T>G c.3348T>G (p.Thr1116=) c.3015T>G (p.Thr1005=) | |
| 7 | g.117611699T= | CA1737387186 | CFTR | c.3258T= (p.Thr1086=) c.*2972T= (n.*2972T=) c.3075T= (p.Thr1025=) c.*1558T= (n.*1558T=) c.*3082T= (n.*3082T=) c.2832T= (p.Thr944=) c.6T= (p.Thr2=) c.849T= (p.Thr283=) c.908T= c.2040T= (p.Thr680=) c.3168T= (p.Thr1056=) c.83T= c.3348T= (p.Thr1116=) c.3015T= (p.Thr1005=) | |
| 7 | g.117611700G>A | CA368992287 | CFTR | c.3259G>A (p.Ala1087Thr) c.*2973G>A (n.*2973G>A) c.3076G>A (p.Ala1026Thr) c.*1559G>A (n.*1559G>A) c.*3083G>A (n.*3083G>A) c.2833G>A (p.Ala945Thr) c.7G>A (p.Ala3Thr) c.850G>A (p.Ala284Thr) c.909G>A c.2041G>A (p.Ala681Thr) c.3169G>A (p.Ala1057Thr) c.84G>A c.3349G>A (p.Ala1117Thr) c.3016G>A (p.Ala1006Thr) | |
| 7 | g.117611700G>C | CA368992288 | CFTR | c.3259G>C (p.Ala1087Pro) c.*2973G>C (n.*2973G>C) c.3076G>C (p.Ala1026Pro) c.*1559G>C (n.*1559G>C) c.*3083G>C (n.*3083G>C) c.2833G>C (p.Ala945Pro) c.7G>C (p.Ala3Pro) c.850G>C (p.Ala284Pro) c.909G>C c.2041G>C (p.Ala681Pro) c.3169G>C (p.Ala1057Pro) c.84G>C c.3349G>C (p.Ala1117Pro) c.3016G>C (p.Ala1006Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611700G= | CA1737387190 | CFTR | c.3259G= (p.Ala1087=) c.*2973G= (n.*2973G=) c.3076G= (p.Ala1026=) c.*1559G= (n.*1559G=) c.*3083G= (n.*3083G=) c.2833G= (p.Ala945=) c.7G= (p.Ala3=) c.850G= (p.Ala284=) c.909G= c.2041G= (p.Ala681=) c.3169G= (p.Ala1057=) c.84G= c.3349G= (p.Ala1117=) c.3016G= (p.Ala1006=) | |
| 7 | g.117611700G>T | CA164966526 | CFTR | c.3259G>T (p.Ala1087Ser) c.*2973G>T (n.*2973G>T) c.3076G>T (p.Ala1026Ser) c.*1559G>T (n.*1559G>T) c.*3083G>T (n.*3083G>T) c.2833G>T (p.Ala945Ser) c.7G>T (p.Ala3Ser) c.850G>T (p.Ala284Ser) c.909G>T c.2041G>T (p.Ala681Ser) c.3169G>T (p.Ala1057Ser) c.84G>T c.3349G>T (p.Ala1117Ser) c.3016G>T (p.Ala1006Ser) | dbSNP |
| 7 | g.117611701C>A | CA368992290 | CFTR | c.3260C>A (p.Ala1087Asp) c.*2974C>A (n.*2974C>A) c.3077C>A (p.Ala1026Asp) c.*1560C>A (n.*1560C>A) c.*3084C>A (n.*3084C>A) c.2834C>A (p.Ala945Asp) c.8C>A (p.Ala3Asp) c.851C>A (p.Ala284Asp) c.910C>A c.2042C>A (p.Ala681Asp) c.3170C>A (p.Ala1057Asp) c.85C>A c.3350C>A (p.Ala1117Asp) c.3017C>A (p.Ala1006Asp) | |
| 7 | g.117611701C= | CA1737387195 | CFTR | c.3260C= (p.Ala1087=) c.*2974C= (n.*2974C=) c.3077C= (p.Ala1026=) c.*1560C= (n.*1560C=) c.*3084C= (n.*3084C=) c.2834C= (p.Ala945=) c.8C= (p.Ala3=) c.851C= (p.Ala284=) c.910C= c.2042C= (p.Ala681=) c.3170C= (p.Ala1057=) c.85C= c.3350C= (p.Ala1117=) c.3017C= (p.Ala1006=) | |
| 7 | g.117611701C>G | CA368992291 | CFTR | c.3260C>G (p.Ala1087Gly) c.*2974C>G (n.*2974C>G) c.3077C>G (p.Ala1026Gly) c.*1560C>G (n.*1560C>G) c.*3084C>G (n.*3084C>G) c.2834C>G (p.Ala945Gly) c.8C>G (p.Ala3Gly) c.851C>G (p.Ala284Gly) c.910C>G c.2042C>G (p.Ala681Gly) c.3170C>G (p.Ala1057Gly) c.85C>G c.3350C>G (p.Ala1117Gly) c.3017C>G (p.Ala1006Gly) | |
| 7 | g.117611701C>T | CA164966544 | CFTR | c.3260C>T (p.Ala1087Val) c.*2974C>T (n.*2974C>T) c.3077C>T (p.Ala1026Val) c.*1560C>T (n.*1560C>T) c.*3084C>T (n.*3084C>T) c.2834C>T (p.Ala945Val) c.8C>T (p.Ala3Val) c.851C>T (p.Ala284Val) c.910C>T c.2042C>T (p.Ala681Val) c.3170C>T (p.Ala1057Val) c.85C>T c.3350C>T (p.Ala1117Val) c.3017C>T (p.Ala1006Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611702C>A | CA457230049 | CFTR | c.3261C>A (p.Ala1087=) c.*2975C>A (n.*2975C>A) c.3078C>A (p.Ala1026=) c.*1561C>A (n.*1561C>A) c.*3085C>A (n.*3085C>A) c.2835C>A (p.Ala945=) c.9C>A (p.Ala3=) c.852C>A (p.Ala284=) c.911C>A c.2043C>A (p.Ala681=) c.3171C>A (p.Ala1057=) c.86C>A c.3351C>A (p.Ala1117=) c.3018C>A (p.Ala1006=) | |
| 7 | g.117611702C= | CA1737387198 | CFTR | c.3261C= (p.Ala1087=) c.*2975C= (n.*2975C=) c.3078C= (p.Ala1026=) c.*1561C= (n.*1561C=) c.*3085C= (n.*3085C=) c.2835C= (p.Ala945=) c.9C= (p.Ala3=) c.852C= (p.Ala284=) c.911C= c.2043C= (p.Ala681=) c.3171C= (p.Ala1057=) c.86C= c.3351C= (p.Ala1117=) c.3018C= (p.Ala1006=) | |
| 7 | g.117611702C>G | CA457230050 | CFTR | c.3261C>G (p.Ala1087=) c.*2975C>G (n.*2975C>G) c.3078C>G (p.Ala1026=) c.*1561C>G (n.*1561C>G) c.*3085C>G (n.*3085C>G) c.2835C>G (p.Ala945=) c.9C>G (p.Ala3=) c.852C>G (p.Ala284=) c.911C>G c.2043C>G (p.Ala681=) c.3171C>G (p.Ala1057=) c.86C>G c.3351C>G (p.Ala1117=) c.3018C>G (p.Ala1006=) | |
| 7 | g.117611702C>T | CA457230051 | CFTR | c.3261C>T (p.Ala1087=) c.*2975C>T (n.*2975C>T) c.3078C>T (p.Ala1026=) c.*1561C>T (n.*1561C>T) c.*3085C>T (n.*3085C>T) c.2835C>T (p.Ala945=) c.9C>T (p.Ala3=) c.852C>T (p.Ala284=) c.911C>T c.2043C>T (p.Ala681=) c.3171C>T (p.Ala1057=) c.86C>T c.3351C>T (p.Ala1117=) c.3018C>T (p.Ala1006=) | |
| 7 | g.117611703A= | CA1737387204 | CFTR | c.3262A= (p.Asn1088=) c.*2976A= (n.*2976A=) c.3079A= (p.Asn1027=) c.*1562A= (n.*1562A=) c.*3086A= (n.*3086A=) c.2836A= (p.Asn946=) c.10A= (p.Asn4=) c.853A= (p.Asn285=) c.912A= c.2044A= (p.Asn682=) c.3172A= (p.Asn1058=) c.87A= c.3352A= (p.Asn1118=) c.3019A= (p.Asn1007=) | |
| 7 | g.117611703A>C | CA368992294 | CFTR | c.3262A>C (p.Asn1088His) c.*2976A>C (n.*2976A>C) c.3079A>C (p.Asn1027His) c.*1562A>C (n.*1562A>C) c.*3086A>C (n.*3086A>C) c.2836A>C (p.Asn946His) c.10A>C (p.Asn4His) c.853A>C (p.Asn285His) c.912A>C c.2044A>C (p.Asn682His) c.3172A>C (p.Asn1058His) c.87A>C c.3352A>C (p.Asn1118His) c.3019A>C (p.Asn1007His) | gnomAD v4 |
| 7 | g.117611703A>G | CA327116 | CFTR | c.3262A>G (p.Asn1088Asp) c.*2976A>G (n.*2976A>G) c.3079A>G (p.Asn1027Asp) c.*1562A>G (n.*1562A>G) c.*3086A>G (n.*3086A>G) c.2836A>G (p.Asn946Asp) c.10A>G (p.Asn4Asp) c.853A>G (p.Asn285Asp) c.912A>G c.2044A>G (p.Asn682Asp) c.3172A>G (p.Asn1058Asp) c.87A>G c.3352A>G (p.Asn1118Asp) c.3019A>G (p.Asn1007Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611703A>T | CA368992296 | CFTR | c.3262A>T (p.Asn1088Tyr) c.*2976A>T (n.*2976A>T) c.3079A>T (p.Asn1027Tyr) c.*1562A>T (n.*1562A>T) c.*3086A>T (n.*3086A>T) c.2836A>T (p.Asn946Tyr) c.10A>T (p.Asn4Tyr) c.853A>T (p.Asn285Tyr) c.912A>T c.2044A>T (p.Asn682Tyr) c.3172A>T (p.Asn1058Tyr) c.87A>T c.3352A>T (p.Asn1118Tyr) c.3019A>T (p.Asn1007Tyr) | |
| 7 | g.117611704dup | CA327118 | CFTR | c.3263dup (p.Asn1088LysfsTer?) c.*2977dup (n.*2977dup) c.3080dup (p.Asn1027LysfsTer?) c.*1563dup (n.*1563dup) c.*3087dup (n.*3087dup) c.2837dup (p.Asn946LysfsTer?) c.11dup (p.Asn4LysfsTer?) c.854dup (p.Asn285LysfsTer?) c.913dup c.2045dup (p.Asn682LysfsTer?) c.3173dup (p.Asn1058LysfsTer?) c.88dup c.3353dup (p.Asn1118LysfsTer?) c.3020dup (p.Asn1007LysfsTer?) | ClinVar dbSNP |
| 7 | g.117611704A= | CA1737387221 | CFTR | c.3263A= (p.Asn1088=) c.*2977A= (n.*2977A=) c.3080A= (p.Asn1027=) c.*1563A= (n.*1563A=) c.*3087A= (n.*3087A=) c.2837A= (p.Asn946=) c.11A= (p.Asn4=) c.854A= (p.Asn285=) c.913A= c.2045A= (p.Asn682=) c.3173A= (p.Asn1058=) c.88A= c.3353A= (p.Asn1118=) c.3020A= (p.Asn1007=) | |
| 7 | g.117611704A>C | CA368992297 | CFTR | c.3263A>C (p.Asn1088Thr) c.*2977A>C (n.*2977A>C) c.3080A>C (p.Asn1027Thr) c.*1563A>C (n.*1563A>C) c.*3087A>C (n.*3087A>C) c.2837A>C (p.Asn946Thr) c.11A>C (p.Asn4Thr) c.854A>C (p.Asn285Thr) c.913A>C c.2045A>C (p.Asn682Thr) c.3173A>C (p.Asn1058Thr) c.88A>C c.3353A>C (p.Asn1118Thr) c.3020A>C (p.Asn1007Thr) |