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.117611626_117611632del | CA2573141588 | CFTR | c.3185_3191del (p.Leu1062HisfsTer19) c.*2899_*2905del (n.*2899_*2905del) c.3002_3008del (p.Leu1001HisfsTer19) c.*1485_*1491del (n.*1485_*1491del) c.*3009_*3015del (n.*3009_*3015del) c.2759_2765del (p.Leu920HisfsTer19) c.776_782del (p.Leu259HisfsTer19) c.835_841del c.1967_1973del (p.Leu656HisfsTer19) c.3095_3101del (p.Leu1032HisfsTer19) c.10_16del c.3275_3281del (p.Leu1092HisfsTer19) c.2942_2948del (p.Leu981HisfsTer19) | ClinVar dbSNP |
| 7 | g.117611625_117611629dup | CA325557 | CFTR | c.3184_3188dup (p.Trp1063CysfsTer22) c.*2898_*2902dup (n.*2898_*2902dup) c.3001_3005dup (p.Trp1002CysfsTer22) c.*1484_*1488dup (n.*1484_*1488dup) c.*3008_*3012dup (n.*3008_*3012dup) c.2758_2762dup (p.Trp921CysfsTer22) c.775_779dup (p.Trp260CysfsTer22) c.834_838dup c.1966_1970dup (p.Trp657CysfsTer22) c.3094_3098dup (p.Trp1033CysfsTer22) c.9_13dup c.3274_3278dup (p.Trp1093CysfsTer22) c.2941_2945dup (p.Trp982CysfsTer22) | ClinVar dbSNP |
| 7 | g.117611628T>A | CA368991999 | CFTR | c.3187T>A (p.Trp1063Arg) c.*2901T>A (n.*2901T>A) c.3004T>A (p.Trp1002Arg) c.*1487T>A (n.*1487T>A) c.*3011T>A (n.*3011T>A) c.2761T>A (p.Trp921Arg) c.778T>A (p.Trp260Arg) c.837T>A c.1969T>A (p.Trp657Arg) c.3097T>A (p.Trp1033Arg) c.12T>A c.3277T>A (p.Trp1093Arg) c.2944T>A (p.Trp982Arg) | |
| 7 | g.117611628T>C | CA368992001 | CFTR | c.3187T>C (p.Trp1063Arg) c.*2901T>C (n.*2901T>C) c.3004T>C (p.Trp1002Arg) c.*1487T>C (n.*1487T>C) c.*3011T>C (n.*3011T>C) c.2761T>C (p.Trp921Arg) c.778T>C (p.Trp260Arg) c.837T>C c.1969T>C (p.Trp657Arg) c.3097T>C (p.Trp1033Arg) c.12T>C c.3277T>C (p.Trp1093Arg) c.2944T>C (p.Trp982Arg) | gnomAD v4 |
| 7 | g.117611628T>G | CA368992004 | CFTR | c.3187T>G (p.Trp1063Gly) c.*2901T>G (n.*2901T>G) c.3004T>G (p.Trp1002Gly) c.*1487T>G (n.*1487T>G) c.*3011T>G (n.*3011T>G) c.2761T>G (p.Trp921Gly) c.778T>G (p.Trp260Gly) c.837T>G c.1969T>G (p.Trp657Gly) c.3097T>G (p.Trp1033Gly) c.12T>G c.3277T>G (p.Trp1093Gly) c.2944T>G (p.Trp982Gly) | |
| 7 | g.117611629G>A | CA368992007 | CFTR | c.3188G>A (p.Trp1063Ter) c.*2902G>A (n.*2902G>A) c.3005G>A (p.Trp1002Ter) c.*1488G>A (n.*1488G>A) c.*3012G>A (n.*3012G>A) c.2762G>A (p.Trp921Ter) c.779G>A (p.Trp260Ter) c.838G>A c.1970G>A (p.Trp657Ter) c.3098G>A (p.Trp1033Ter) c.13G>A c.3278G>A (p.Trp1093Ter) c.2945G>A (p.Trp982Ter) | ClinVar dbSNP |
| 7 | g.117611629G>C | CA368992009 | CFTR | c.3188G>C (p.Trp1063Ser) c.*2902G>C (n.*2902G>C) c.3005G>C (p.Trp1002Ser) c.*1488G>C (n.*1488G>C) c.*3012G>C (n.*3012G>C) c.2762G>C (p.Trp921Ser) c.779G>C (p.Trp260Ser) c.838G>C c.1970G>C (p.Trp657Ser) c.3098G>C (p.Trp1033Ser) c.13G>C c.3278G>C (p.Trp1093Ser) c.2945G>C (p.Trp982Ser) | |
| 7 | g.117611629G= | CA1737386867 | CFTR | c.3188G= (p.Trp1063=) c.*2902G= (n.*2902G=) c.3005G= (p.Trp1002=) c.*1488G= (n.*1488G=) c.*3012G= (n.*3012G=) c.2762G= (p.Trp921=) c.779G= (p.Trp260=) c.838G= c.1970G= (p.Trp657=) c.3098G= (p.Trp1033=) c.13G= c.3278G= (p.Trp1093=) c.2945G= (p.Trp982=) | |
| 7 | g.117611629G>T | CA368992011 | CFTR | c.3188G>T (p.Trp1063Leu) c.*2902G>T (n.*2902G>T) c.3005G>T (p.Trp1002Leu) c.*1488G>T (n.*1488G>T) c.*3012G>T (n.*3012G>T) c.2762G>T (p.Trp921Leu) c.779G>T (p.Trp260Leu) c.838G>T c.1970G>T (p.Trp657Leu) c.3098G>T (p.Trp1033Leu) c.13G>T c.3278G>T (p.Trp1093Leu) c.2945G>T (p.Trp982Leu) | |
| 7 | g.117611630del | CA2695208433 | CFTR | c.3189del (p.Trp1063Ter) c.*2903del (n.*2903del) c.3006del (p.Trp1002Ter) c.*1489del (n.*1489del) c.*3013del (n.*3013del) c.2763del (p.Trp921Ter) c.780del (p.Trp260Ter) c.839del c.1971del (p.Trp657Ter) c.3099del (p.Trp1033Ter) c.14del c.3279del (p.Trp1093Ter) c.2946del (p.Trp982Ter) | |
| 7 | g.117611630G>A | CA327080 | CFTR | c.3189G>A (p.Trp1063Ter) c.*2903G>A (n.*2903G>A) c.3006G>A (p.Trp1002Ter) c.*1489G>A (n.*1489G>A) c.*3013G>A (n.*3013G>A) c.2763G>A (p.Trp921Ter) c.780G>A (p.Trp260Ter) c.839G>A c.1971G>A (p.Trp657Ter) c.3099G>A (p.Trp1033Ter) c.14G>A c.3279G>A (p.Trp1093Ter) c.2946G>A (p.Trp982Ter) | ClinVar dbSNP |
| 7 | g.117611630G>C | CA368992012 | CFTR | c.3189G>C (p.Trp1063Cys) c.*2903G>C (n.*2903G>C) c.3006G>C (p.Trp1002Cys) c.*1489G>C (n.*1489G>C) c.*3013G>C (n.*3013G>C) c.2763G>C (p.Trp921Cys) c.780G>C (p.Trp260Cys) c.839G>C c.1971G>C (p.Trp657Cys) c.3099G>C (p.Trp1033Cys) c.14G>C c.3279G>C (p.Trp1093Cys) c.2946G>C (p.Trp982Cys) | |
| 7 | g.117611630G= | CA1737386877 | CFTR | c.3189G= (p.Trp1063=) c.*2903G= (n.*2903G=) c.3006G= (p.Trp1002=) c.*1489G= (n.*1489G=) c.*3013G= (n.*3013G=) c.2763G= (p.Trp921=) c.780G= (p.Trp260=) c.839G= c.1971G= (p.Trp657=) c.3099G= (p.Trp1033=) c.14G= c.3279G= (p.Trp1093=) c.2946G= (p.Trp982=) | |
| 7 | g.117611630G>T | CA368992015 | CFTR | c.3189G>T (p.Trp1063Cys) c.*2903G>T (n.*2903G>T) c.3006G>T (p.Trp1002Cys) c.*1489G>T (n.*1489G>T) c.*3013G>T (n.*3013G>T) c.2763G>T (p.Trp921Cys) c.780G>T (p.Trp260Cys) c.839G>T c.1971G>T (p.Trp657Cys) c.3099G>T (p.Trp1033Cys) c.14G>T c.3279G>T (p.Trp1093Cys) c.2946G>T (p.Trp982Cys) | gnomAD v4 |
| 7 | g.117611631A= | CA1737386881 | CFTR | c.3190A= (p.Thr1064=) c.*2904A= (n.*2904A=) c.3007A= (p.Thr1003=) c.*1490A= (n.*1490A=) c.*3014A= (n.*3014A=) c.2764A= (p.Thr922=) c.781A= (p.Thr261=) c.840A= c.1972A= (p.Thr658=) c.3100A= (p.Thr1034=) c.15A= c.3280A= (p.Thr1094=) c.2947A= (p.Thr983=) | |
| 7 | g.117611631A>C | CA368992017 | CFTR | c.3190A>C (p.Thr1064Pro) c.*2904A>C (n.*2904A>C) c.3007A>C (p.Thr1003Pro) c.*1490A>C (n.*1490A>C) c.*3014A>C (n.*3014A>C) c.2764A>C (p.Thr922Pro) c.781A>C (p.Thr261Pro) c.840A>C c.1972A>C (p.Thr658Pro) c.3100A>C (p.Thr1034Pro) c.15A>C c.3280A>C (p.Thr1094Pro) c.2947A>C (p.Thr983Pro) | |
| 7 | g.117611631A>G | CA368992019 | CFTR | c.3190A>G (p.Thr1064Ala) c.*2904A>G (n.*2904A>G) c.3007A>G (p.Thr1003Ala) c.*1490A>G (n.*1490A>G) c.*3014A>G (n.*3014A>G) c.2764A>G (p.Thr922Ala) c.781A>G (p.Thr261Ala) c.840A>G c.1972A>G (p.Thr658Ala) c.3100A>G (p.Thr1034Ala) c.15A>G c.3280A>G (p.Thr1094Ala) c.2947A>G (p.Thr983Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611631A>T | CA368992021 | CFTR | c.3190A>T (p.Thr1064Ser) c.*2904A>T (n.*2904A>T) c.3007A>T (p.Thr1003Ser) c.*1490A>T (n.*1490A>T) c.*3014A>T (n.*3014A>T) c.2764A>T (p.Thr922Ser) c.781A>T (p.Thr261Ser) c.840A>T c.1972A>T (p.Thr658Ser) c.3100A>T (p.Thr1034Ser) c.15A>T c.3280A>T (p.Thr1094Ser) c.2947A>T (p.Thr983Ser) | |
| 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.117611632C>A | CA368992027 | CFTR | c.3191C>A (p.Thr1064Lys) c.*2905C>A (n.*2905C>A) c.3008C>A (p.Thr1003Lys) c.*1491C>A (n.*1491C>A) c.*3015C>A (n.*3015C>A) c.2765C>A (p.Thr922Lys) c.782C>A (p.Thr261Lys) c.841C>A c.1973C>A (p.Thr658Lys) c.3101C>A (p.Thr1034Lys) c.16C>A c.3281C>A (p.Thr1094Lys) c.2948C>A (p.Thr983Lys) | |
| 7 | g.117611632C= | CA1737386885 | CFTR | c.3191C= (p.Thr1064=) c.*2905C= (n.*2905C=) c.3008C= (p.Thr1003=) c.*1491C= (n.*1491C=) c.*3015C= (n.*3015C=) c.2765C= (p.Thr922=) c.782C= (p.Thr261=) c.841C= c.1973C= (p.Thr658=) c.3101C= (p.Thr1034=) c.16C= c.3281C= (p.Thr1094=) c.2948C= (p.Thr983=) | |
| 7 | g.117611632C>G | CA368992024 | CFTR | c.3191C>G (p.Thr1064Arg) c.*2905C>G (n.*2905C>G) c.3008C>G (p.Thr1003Arg) c.*1491C>G (n.*1491C>G) c.*3015C>G (n.*3015C>G) c.2765C>G (p.Thr922Arg) c.782C>G (p.Thr261Arg) c.841C>G c.1973C>G (p.Thr658Arg) c.3101C>G (p.Thr1034Arg) c.16C>G c.3281C>G (p.Thr1094Arg) c.2948C>G (p.Thr983Arg) | |
| 7 | g.117611632C>T | CA368992026 | CFTR | c.3191C>T (p.Thr1064Ile) c.*2905C>T (n.*2905C>T) c.3008C>T (p.Thr1003Ile) c.*1491C>T (n.*1491C>T) c.*3015C>T (n.*3015C>T) c.2765C>T (p.Thr922Ile) c.782C>T (p.Thr261Ile) c.841C>T c.1973C>T (p.Thr658Ile) c.3101C>T (p.Thr1034Ile) c.16C>T c.3281C>T (p.Thr1094Ile) c.2948C>T (p.Thr983Ile) | |
| 7 | g.117611632_117611633insTTTTAAGCTTAAAAGG | CA915945437 | CFTR | c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065PhefsTer16) c.*2905_*2906insTTTTAAGCTTAAAAGG (n.*2905_*2906insTTTTAAGCTTAAAAGG) c.3008_3009insTTTTAAGCTTAAAAGG (p.Leu1004PhefsTer16) c.*1491_*1492insTTTTAAGCTTAAAAGG (n.*1491_*1492insTTTTAAGCTTAAAAGG) c.*3015_*3016insTTTTAAGCTTAAAAGG (n.*3015_*3016insTTTTAAGCTTAAAAGG) c.2765_2766insTTTTAAGCTTAAAAGG (p.Leu923PhefsTer16) c.782_783insTTTTAAGCTTAAAAGG (p.Leu262PhefsTer16) c.841_842insTTTTAAGCTTAAAAGG c.1973_1974insTTTTAAGCTTAAAAGG (p.Leu659PhefsTer16) c.3101_3102insTTTTAAGCTTAAAAGG (p.Leu1035PhefsTer16) c.16_17insTTTTAAGCTTAAAAGG c.3281_3282insTTTTAAGCTTAAAAGG (p.Leu1095PhefsTer16) c.2948_2949insTTTTAAGCTTAAAAGG (p.Leu984PhefsTer16) | ClinVar dbSNP |
| 7 | g.117611633A= | CA1737386889 | CFTR | c.3192A= (p.Thr1064=) c.*2906A= (n.*2906A=) c.3009A= (p.Thr1003=) c.*1492A= (n.*1492A=) c.*3016A= (n.*3016A=) c.2766A= (p.Thr922=) c.783A= (p.Thr261=) c.842A= c.1974A= (p.Thr658=) c.3102A= (p.Thr1034=) c.17A= c.3282A= (p.Thr1094=) c.2949A= (p.Thr983=) | |
| 7 | g.117611633A>C | CA457230001 | CFTR | c.3192A>C (p.Thr1064=) c.*2906A>C (n.*2906A>C) c.3009A>C (p.Thr1003=) c.*1492A>C (n.*1492A>C) c.*3016A>C (n.*3016A>C) c.2766A>C (p.Thr922=) c.783A>C (p.Thr261=) c.842A>C c.1974A>C (p.Thr658=) c.3102A>C (p.Thr1034=) c.17A>C c.3282A>C (p.Thr1094=) c.2949A>C (p.Thr983=) | dbSNP |
| 7 | g.117611633A>G | CA457230002 | CFTR | c.3192A>G (p.Thr1064=) c.*2906A>G (n.*2906A>G) c.3009A>G (p.Thr1003=) c.*1492A>G (n.*1492A>G) c.*3016A>G (n.*3016A>G) c.2766A>G (p.Thr922=) c.783A>G (p.Thr261=) c.842A>G c.1974A>G (p.Thr658=) c.3102A>G (p.Thr1034=) c.17A>G c.3282A>G (p.Thr1094=) c.2949A>G (p.Thr983=) | dbSNP gnomAD v4 |
| 7 | g.117611633A>T | CA457230003 | CFTR | c.3192A>T (p.Thr1064=) c.*2906A>T (n.*2906A>T) c.3009A>T (p.Thr1003=) c.*1492A>T (n.*1492A>T) c.*3016A>T (n.*3016A>T) c.2766A>T (p.Thr922=) c.783A>T (p.Thr261=) c.842A>T c.1974A>T (p.Thr658=) c.3102A>T (p.Thr1034=) c.17A>T c.3282A>T (p.Thr1094=) c.2949A>T (p.Thr983=) | ClinVar gnomAD v4 |
| 7 | g.117611634C>A | CA368992030 | CFTR | c.3193C>A (p.Leu1065Ile) c.*2907C>A (n.*2907C>A) c.3010C>A (p.Leu1004Ile) c.*1493C>A (n.*1493C>A) c.*3017C>A (n.*3017C>A) c.2767C>A (p.Leu923Ile) c.784C>A (p.Leu262Ile) c.843C>A c.1975C>A (p.Leu659Ile) c.3103C>A (p.Leu1035Ile) c.18C>A c.3283C>A (p.Leu1095Ile) c.2950C>A (p.Leu984Ile) | |
| 7 | g.117611634C= | CA1737386896 | CFTR | c.3193C= (p.Leu1065=) c.*2907C= (n.*2907C=) c.3010C= (p.Leu1004=) c.*1493C= (n.*1493C=) c.*3017C= (n.*3017C=) c.2767C= (p.Leu923=) c.784C= (p.Leu262=) c.843C= c.1975C= (p.Leu659=) c.3103C= (p.Leu1035=) c.18C= c.3283C= (p.Leu1095=) c.2950C= (p.Leu984=) | |
| 7 | g.117611634C>G | CA368992032 | CFTR | c.3193C>G (p.Leu1065Val) c.*2907C>G (n.*2907C>G) c.3010C>G (p.Leu1004Val) c.*1493C>G (n.*1493C>G) c.*3017C>G (n.*3017C>G) c.2767C>G (p.Leu923Val) c.784C>G (p.Leu262Val) c.843C>G c.1975C>G (p.Leu659Val) c.3103C>G (p.Leu1035Val) c.18C>G c.3283C>G (p.Leu1095Val) c.2950C>G (p.Leu984Val) | |
| 7 | g.117611634C>T | CA327082 | CFTR | c.3193C>T (p.Leu1065Phe) c.*2907C>T (n.*2907C>T) c.3010C>T (p.Leu1004Phe) c.*1493C>T (n.*1493C>T) c.*3017C>T (n.*3017C>T) c.2767C>T (p.Leu923Phe) c.784C>T (p.Leu262Phe) c.843C>T c.1975C>T (p.Leu659Phe) c.3103C>T (p.Leu1035Phe) c.18C>T c.3283C>T (p.Leu1095Phe) c.2950C>T (p.Leu984Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611635T>A | CA368992036 | CFTR | c.3194T>A (p.Leu1065His) c.*2908T>A (n.*2908T>A) c.3011T>A (p.Leu1004His) c.*1494T>A (n.*1494T>A) c.*3018T>A (n.*3018T>A) c.2768T>A (p.Leu923His) c.785T>A (p.Leu262His) c.844T>A c.1976T>A (p.Leu659His) c.3104T>A (p.Leu1035His) c.19T>A c.3284T>A (p.Leu1095His) c.2951T>A (p.Leu984His) | |
| 7 | g.117611635T>C | CA325596 | CFTR | c.3194T>C (p.Leu1065Pro) c.*2908T>C (n.*2908T>C) c.3011T>C (p.Leu1004Pro) c.*1494T>C (n.*1494T>C) c.*3018T>C (n.*3018T>C) c.2768T>C (p.Leu923Pro) c.785T>C (p.Leu262Pro) c.844T>C c.1976T>C (p.Leu659Pro) c.3104T>C (p.Leu1035Pro) c.19T>C c.3284T>C (p.Leu1095Pro) c.2951T>C (p.Leu984Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611635T>G | CA327084 | CFTR | c.3194T>G (p.Leu1065Arg) c.*2908T>G (n.*2908T>G) c.3011T>G (p.Leu1004Arg) c.*1494T>G (n.*1494T>G) c.*3018T>G (n.*3018T>G) c.2768T>G (p.Leu923Arg) c.785T>G (p.Leu262Arg) c.844T>G c.1976T>G (p.Leu659Arg) c.3104T>G (p.Leu1035Arg) c.19T>G c.3284T>G (p.Leu1095Arg) c.2951T>G (p.Leu984Arg) | ClinVar dbSNP |
| 7 | g.117611635T= | CA1737386915 | CFTR | c.3194T= (p.Leu1065=) c.*2908T= (n.*2908T=) c.3011T= (p.Leu1004=) c.*1494T= (n.*1494T=) c.*3018T= (n.*3018T=) c.2768T= (p.Leu923=) c.785T= (p.Leu262=) c.844T= c.1976T= (p.Leu659=) c.3104T= (p.Leu1035=) c.19T= c.3284T= (p.Leu1095=) c.2951T= (p.Leu984=) | |
| 7 | g.117611636T>A | CA457230004 | CFTR | c.3195T>A (p.Leu1065=) c.*2909T>A (n.*2909T>A) c.3012T>A (p.Leu1004=) c.*1495T>A (n.*1495T>A) c.*3019T>A (n.*3019T>A) c.2769T>A (p.Leu923=) c.786T>A (p.Leu262=) c.845T>A c.1977T>A (p.Leu659=) c.3105T>A (p.Leu1035=) c.20T>A c.3285T>A (p.Leu1095=) c.2952T>A (p.Leu984=) | |
| 7 | g.117611636T>C | CA457230005 | CFTR | c.3195T>C (p.Leu1065=) c.*2909T>C (n.*2909T>C) c.3012T>C (p.Leu1004=) c.*1495T>C (n.*1495T>C) c.*3019T>C (n.*3019T>C) c.2769T>C (p.Leu923=) c.786T>C (p.Leu262=) c.845T>C c.1977T>C (p.Leu659=) c.3105T>C (p.Leu1035=) c.20T>C c.3285T>C (p.Leu1095=) c.2952T>C (p.Leu984=) | |
| 7 | g.117611636T>G | CA457230006 | CFTR | c.3195T>G (p.Leu1065=) c.*2909T>G (n.*2909T>G) c.3012T>G (p.Leu1004=) c.*1495T>G (n.*1495T>G) c.*3019T>G (n.*3019T>G) c.2769T>G (p.Leu923=) c.786T>G (p.Leu262=) c.845T>G c.1977T>G (p.Leu659=) c.3105T>G (p.Leu1035=) c.20T>G c.3285T>G (p.Leu1095=) c.2952T>G (p.Leu984=) | gnomAD v4 |