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.117611581G>A | CA327063 | CFTR | c.3140G>A (p.Gly1047Asp) c.*2854G>A (n.*2854G>A) c.2957G>A (p.Gly986Asp) c.*1440G>A (n.*1440G>A) c.*2964G>A (n.*2964G>A) c.2714G>A (p.Gly905Asp) c.731G>A (p.Gly244Asp) c.790G>A c.1922G>A (p.Gly641Asp) c.3050G>A (p.Gly1017Asp) c.3230G>A (p.Gly1077Asp) c.2897G>A (p.Gly966Asp) | dbSNP gnomAD v4 COSMIC |
| 7 | g.117611581G>C | CA368991709 | CFTR | c.3140G>C (p.Gly1047Ala) c.*2854G>C (n.*2854G>C) c.2957G>C (p.Gly986Ala) c.*1440G>C (n.*1440G>C) c.*2964G>C (n.*2964G>C) c.2714G>C (p.Gly905Ala) c.731G>C (p.Gly244Ala) c.790G>C c.1922G>C (p.Gly641Ala) c.3050G>C (p.Gly1017Ala) c.3230G>C (p.Gly1077Ala) c.2897G>C (p.Gly966Ala) | |
| 7 | g.117611581G= | CA1737386662 | CFTR | c.3140G= (p.Gly1047=) c.*2854G= (n.*2854G=) c.2957G= (p.Gly986=) c.*1440G= (n.*1440G=) c.*2964G= (n.*2964G=) c.2714G= (p.Gly905=) c.731G= (p.Gly244=) c.790G= c.1922G= (p.Gly641=) c.3050G= (p.Gly1017=) c.3230G= (p.Gly1077=) c.2897G= (p.Gly966=) | |
| 7 | g.117611581G>T | CA4451402 | CFTR | c.3140G>T (p.Gly1047Val) c.*2854G>T (n.*2854G>T) c.2957G>T (p.Gly986Val) c.*1440G>T (n.*1440G>T) c.*2964G>T (n.*2964G>T) c.2714G>T (p.Gly905Val) c.731G>T (p.Gly244Val) c.790G>T c.1922G>T (p.Gly641Val) c.3050G>T (p.Gly1017Val) c.3230G>T (p.Gly1077Val) c.2897G>T (p.Gly966Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611582C>A | CA457229968 | CFTR | c.3141C>A (p.Gly1047=) c.*2855C>A (n.*2855C>A) c.2958C>A (p.Gly986=) c.*1441C>A (n.*1441C>A) c.*2965C>A (n.*2965C>A) c.2715C>A (p.Gly905=) c.732C>A (p.Gly244=) c.791C>A c.1923C>A (p.Gly641=) c.3051C>A (p.Gly1017=) c.3231C>A (p.Gly1077=) c.2898C>A (p.Gly966=) | dbSNP gnomAD v4 |
| 7 | g.117611582C= | CA1737386667 | CFTR | c.3141C= (p.Gly1047=) c.*2855C= (n.*2855C=) c.2958C= (p.Gly986=) c.*1441C= (n.*1441C=) c.*2965C= (n.*2965C=) c.2715C= (p.Gly905=) c.732C= (p.Gly244=) c.791C= c.1923C= (p.Gly641=) c.3051C= (p.Gly1017=) c.3231C= (p.Gly1077=) c.2898C= (p.Gly966=) | |
| 7 | g.117611582C>G | CA457229969 | CFTR | c.3141C>G (p.Gly1047=) c.*2855C>G (n.*2855C>G) c.2958C>G (p.Gly986=) c.*1441C>G (n.*1441C>G) c.*2965C>G (n.*2965C>G) c.2715C>G (p.Gly905=) c.732C>G (p.Gly244=) c.791C>G c.1923C>G (p.Gly641=) c.3051C>G (p.Gly1017=) c.3231C>G (p.Gly1077=) c.2898C>G (p.Gly966=) | ClinVar gnomAD v4 |
| 7 | g.117611582C>T | CA457229970 | CFTR | c.3141C>T (p.Gly1047=) c.*2855C>T (n.*2855C>T) c.2958C>T (p.Gly986=) c.*1441C>T (n.*1441C>T) c.*2965C>T (n.*2965C>T) c.2715C>T (p.Gly905=) c.732C>T (p.Gly244=) c.791C>T c.1923C>T (p.Gly641=) c.3051C>T (p.Gly1017=) c.3231C>T (p.Gly1077=) c.2898C>T (p.Gly966=) | gnomAD v4 |
| 7 | g.117611583A>C | CA457229971 | CFTR | c.3142A>C (p.Arg1048=) c.*2856A>C (n.*2856A>C) c.2959A>C (p.Arg987=) c.*1442A>C (n.*1442A>C) c.*2966A>C (n.*2966A>C) c.2716A>C (p.Arg906=) c.733A>C (p.Arg245=) c.792A>C c.1924A>C (p.Arg642=) c.3052A>C (p.Arg1018=) c.3232A>C (p.Arg1078=) c.2899A>C (p.Arg967=) | ClinVar |
| 7 | g.117611583A>G | CA368991715 | CFTR | c.3142A>G (p.Arg1048Gly) c.*2856A>G (n.*2856A>G) c.2959A>G (p.Arg987Gly) c.*1442A>G (n.*1442A>G) c.*2966A>G (n.*2966A>G) c.2716A>G (p.Arg906Gly) c.733A>G (p.Arg245Gly) c.792A>G c.1924A>G (p.Arg642Gly) c.3052A>G (p.Arg1018Gly) c.3232A>G (p.Arg1078Gly) c.2899A>G (p.Arg967Gly) | |
| 7 | g.117611583A>T | CA368991718 | CFTR | c.3142A>T (p.Arg1048Trp) c.*2856A>T (n.*2856A>T) c.2959A>T (p.Arg987Trp) c.*1442A>T (n.*1442A>T) c.*2966A>T (n.*2966A>T) c.2716A>T (p.Arg906Trp) c.733A>T (p.Arg245Trp) c.792A>T c.1924A>T (p.Arg642Trp) c.3052A>T (p.Arg1018Trp) c.3232A>T (p.Arg1078Trp) c.2899A>T (p.Arg967Trp) | |
| 7 | g.117611584G>A | CA368991723 | CFTR | c.3143G>A (p.Arg1048Lys) c.*2857G>A (n.*2857G>A) c.2960G>A (p.Arg987Lys) c.*1443G>A (n.*1443G>A) c.*2967G>A (n.*2967G>A) c.2717G>A (p.Arg906Lys) c.734G>A (p.Arg245Lys) c.793G>A c.1925G>A (p.Arg642Lys) c.3053G>A (p.Arg1018Lys) c.3233G>A (p.Arg1078Lys) c.2900G>A (p.Arg967Lys) | gnomAD v4 |
| 7 | g.117611584G>C | CA368991725 | CFTR | c.3143G>C (p.Arg1048Thr) c.*2857G>C (n.*2857G>C) c.2960G>C (p.Arg987Thr) c.*1443G>C (n.*1443G>C) c.*2967G>C (n.*2967G>C) c.2717G>C (p.Arg906Thr) c.734G>C (p.Arg245Thr) c.793G>C c.1925G>C (p.Arg642Thr) c.3053G>C (p.Arg1018Thr) c.3233G>C (p.Arg1078Thr) c.2900G>C (p.Arg967Thr) | |
| 7 | g.117611584G>T | CA368991730 | CFTR | c.3143G>T (p.Arg1048Met) c.*2857G>T (n.*2857G>T) c.2960G>T (p.Arg987Met) c.*1443G>T (n.*1443G>T) c.*2967G>T (n.*2967G>T) c.2717G>T (p.Arg906Met) c.734G>T (p.Arg245Met) c.793G>T c.1925G>T (p.Arg642Met) c.3053G>T (p.Arg1018Met) c.3233G>T (p.Arg1078Met) c.2900G>T (p.Arg967Met) | |
| 7 | g.117611585G>A | CA457229972 | CFTR | c.3144G>A (p.Arg1048=) c.*2858G>A (n.*2858G>A) c.2961G>A (p.Arg987=) c.*1444G>A (n.*1444G>A) c.*2968G>A (n.*2968G>A) c.2718G>A (p.Arg906=) c.735G>A (p.Arg245=) c.794G>A c.1926G>A (p.Arg642=) c.3054G>A (p.Arg1018=) c.3234G>A (p.Arg1078=) c.2901G>A (p.Arg967=) | |
| 7 | g.117611585G>C | CA368991734 | CFTR | c.3144G>C (p.Arg1048Ser) c.*2858G>C (n.*2858G>C) c.2961G>C (p.Arg987Ser) c.*1444G>C (n.*1444G>C) c.*2968G>C (n.*2968G>C) c.2718G>C (p.Arg906Ser) c.735G>C (p.Arg245Ser) c.794G>C c.1926G>C (p.Arg642Ser) c.3054G>C (p.Arg1018Ser) c.3234G>C (p.Arg1078Ser) c.2901G>C (p.Arg967Ser) | |
| 7 | g.117611585G>T | CA368991737 | CFTR | c.3144G>T (p.Arg1048Ser) c.*2858G>T (n.*2858G>T) c.2961G>T (p.Arg987Ser) c.*1444G>T (n.*1444G>T) c.*2968G>T (n.*2968G>T) c.2718G>T (p.Arg906Ser) c.735G>T (p.Arg245Ser) c.794G>T c.1926G>T (p.Arg642Ser) c.3054G>T (p.Arg1018Ser) c.3234G>T (p.Arg1078Ser) c.2901G>T (p.Arg967Ser) | |
| 7 | g.117611586A>C | CA368991741 | CFTR | c.3145A>C (p.Ser1049Arg) c.*2859A>C (n.*2859A>C) c.2962A>C (p.Ser988Arg) c.*1445A>C (n.*1445A>C) c.*2969A>C (n.*2969A>C) c.2719A>C (p.Ser907Arg) c.736A>C (p.Ser246Arg) c.795A>C c.1927A>C (p.Ser643Arg) c.3055A>C (p.Ser1019Arg) c.3235A>C (p.Ser1079Arg) c.2902A>C (p.Ser968Arg) | |
| 7 | g.117611586A>G | CA368991747 | CFTR | c.3145A>G (p.Ser1049Gly) c.*2859A>G (n.*2859A>G) c.2962A>G (p.Ser988Gly) c.*1445A>G (n.*1445A>G) c.*2969A>G (n.*2969A>G) c.2719A>G (p.Ser907Gly) c.736A>G (p.Ser246Gly) c.795A>G c.1927A>G (p.Ser643Gly) c.3055A>G (p.Ser1019Gly) c.3235A>G (p.Ser1079Gly) c.2902A>G (p.Ser968Gly) | gnomAD v4 |
| 7 | g.117611586A>T | CA368991744 | CFTR | c.3145A>T (p.Ser1049Cys) c.*2859A>T (n.*2859A>T) c.2962A>T (p.Ser988Cys) c.*1445A>T (n.*1445A>T) c.*2969A>T (n.*2969A>T) c.2719A>T (p.Ser907Cys) c.736A>T (p.Ser246Cys) c.795A>T c.1927A>T (p.Ser643Cys) c.3055A>T (p.Ser1019Cys) c.3235A>T (p.Ser1079Cys) c.2902A>T (p.Ser968Cys) | |
| 7 | g.117611587G>A | CA368991749 | CFTR | c.3146G>A (p.Ser1049Asn) c.*2860G>A (n.*2860G>A) c.2963G>A (p.Ser988Asn) c.*1446G>A (n.*1446G>A) c.*2970G>A (n.*2970G>A) c.2720G>A (p.Ser907Asn) c.737G>A (p.Ser246Asn) c.796G>A c.1928G>A (p.Ser643Asn) c.3056G>A (p.Ser1019Asn) c.3236G>A (p.Ser1079Asn) c.2903G>A (p.Ser968Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611587G>C | CA368991754 | CFTR | c.3146G>C (p.Ser1049Thr) c.*2860G>C (n.*2860G>C) c.2963G>C (p.Ser988Thr) c.*1446G>C (n.*1446G>C) c.*2970G>C (n.*2970G>C) c.2720G>C (p.Ser907Thr) c.737G>C (p.Ser246Thr) c.796G>C c.1928G>C (p.Ser643Thr) c.3056G>C (p.Ser1019Thr) c.3236G>C (p.Ser1079Thr) c.2903G>C (p.Ser968Thr) | |
| 7 | g.117611587G= | CA1737386671 | CFTR | c.3146G= (p.Ser1049=) c.*2860G= (n.*2860G=) c.2963G= (p.Ser988=) c.*1446G= (n.*1446G=) c.*2970G= (n.*2970G=) c.2720G= (p.Ser907=) c.737G= (p.Ser246=) c.796G= c.1928G= (p.Ser643=) c.3056G= (p.Ser1019=) c.3236G= (p.Ser1079=) c.2903G= (p.Ser968=) | |
| 7 | g.117611587G>T | CA368991751 | CFTR | c.3146G>T (p.Ser1049Ile) c.*2860G>T (n.*2860G>T) c.2963G>T (p.Ser988Ile) c.*1446G>T (n.*1446G>T) c.*2970G>T (n.*2970G>T) c.2720G>T (p.Ser907Ile) c.737G>T (p.Ser246Ile) c.796G>T c.1928G>T (p.Ser643Ile) c.3056G>T (p.Ser1019Ile) c.3236G>T (p.Ser1079Ile) c.2903G>T (p.Ser968Ile) | |
| 7 | g.117611588T>A | CA368991758 | CFTR | c.3147T>A (p.Ser1049Arg) c.*2861T>A (n.*2861T>A) c.2964T>A (p.Ser988Arg) c.*1447T>A (n.*1447T>A) c.*2971T>A (n.*2971T>A) c.2721T>A (p.Ser907Arg) c.738T>A (p.Ser246Arg) c.797T>A c.1929T>A (p.Ser643Arg) c.3057T>A (p.Ser1019Arg) c.3237T>A (p.Ser1079Arg) c.2904T>A (p.Ser968Arg) | |
| 7 | g.117611588T>C | CA457229973 | CFTR | c.3147T>C (p.Ser1049=) c.*2861T>C (n.*2861T>C) c.2964T>C (p.Ser988=) c.*1447T>C (n.*1447T>C) c.*2971T>C (n.*2971T>C) c.2721T>C (p.Ser907=) c.738T>C (p.Ser246=) c.797T>C c.1929T>C (p.Ser643=) c.3057T>C (p.Ser1019=) c.3237T>C (p.Ser1079=) c.2904T>C (p.Ser968=) | gnomAD v4 |
| 7 | g.117611588T>G | CA368991760 | CFTR | c.3147T>G (p.Ser1049Arg) c.*2861T>G (n.*2861T>G) c.2964T>G (p.Ser988Arg) c.*1447T>G (n.*1447T>G) c.*2971T>G (n.*2971T>G) c.2721T>G (p.Ser907Arg) c.738T>G (p.Ser246Arg) c.797T>G c.1929T>G (p.Ser643Arg) c.3057T>G (p.Ser1019Arg) c.3237T>G (p.Ser1079Arg) c.2904T>G (p.Ser968Arg) | dbSNP |
| 7 | g.117611588T= | CA1737386673 | CFTR | c.3147T= (p.Ser1049=) c.*2861T= (n.*2861T=) c.2964T= (p.Ser988=) c.*1447T= (n.*1447T=) c.*2971T= (n.*2971T=) c.2721T= (p.Ser907=) c.738T= (p.Ser246=) c.797T= c.1929T= (p.Ser643=) c.3057T= (p.Ser1019=) c.3237T= (p.Ser1079=) c.2904T= (p.Ser968=) | |
| 7 | g.117611589C>A | CA368991766 | CFTR | c.3148C>A (p.Pro1050Thr) c.*2862C>A (n.*2862C>A) c.2965C>A (p.Pro989Thr) c.*1448C>A (n.*1448C>A) c.*2972C>A (n.*2972C>A) c.2722C>A (p.Pro908Thr) c.739C>A (p.Pro247Thr) c.798C>A c.1930C>A (p.Pro644Thr) c.3058C>A (p.Pro1020Thr) c.3238C>A (p.Pro1080Thr) c.2905C>A (p.Pro969Thr) | ClinVar gnomAD v4 |
| 7 | g.117611589C= | CA1737386677 | CFTR | c.3148C= (p.Pro1050=) c.*2862C= (n.*2862C=) c.2965C= (p.Pro989=) c.*1448C= (n.*1448C=) c.*2972C= (n.*2972C=) c.2722C= (p.Pro908=) c.739C= (p.Pro247=) c.798C= c.1930C= (p.Pro644=) c.3058C= (p.Pro1020=) c.3238C= (p.Pro1080=) c.2905C= (p.Pro969=) | |
| 7 | g.117611589C>G | CA164966275 | CFTR | c.3148C>G (p.Pro1050Ala) c.*2862C>G (n.*2862C>G) c.2965C>G (p.Pro989Ala) c.*1448C>G (n.*1448C>G) c.*2972C>G (n.*2972C>G) c.2722C>G (p.Pro908Ala) c.739C>G (p.Pro247Ala) c.798C>G c.1930C>G (p.Pro644Ala) c.3058C>G (p.Pro1020Ala) c.3238C>G (p.Pro1080Ala) c.2905C>G (p.Pro969Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611589C>T | CA368991770 | CFTR | c.3148C>T (p.Pro1050Ser) c.*2862C>T (n.*2862C>T) c.2965C>T (p.Pro989Ser) c.*1448C>T (n.*1448C>T) c.*2972C>T (n.*2972C>T) c.2722C>T (p.Pro908Ser) c.739C>T (p.Pro247Ser) c.798C>T c.1930C>T (p.Pro644Ser) c.3058C>T (p.Pro1020Ser) c.3238C>T (p.Pro1080Ser) c.2905C>T (p.Pro969Ser) | |
| 7 | g.117611590C>A | CA368991772 | CFTR | c.3149C>A (p.Pro1050Gln) c.*2863C>A (n.*2863C>A) c.2966C>A (p.Pro989Gln) c.*1449C>A (n.*1449C>A) c.*2973C>A (n.*2973C>A) c.2723C>A (p.Pro908Gln) c.740C>A (p.Pro247Gln) c.799C>A c.1931C>A (p.Pro644Gln) c.3059C>A (p.Pro1020Gln) c.3239C>A (p.Pro1080Gln) c.2906C>A (p.Pro969Gln) | |
| 7 | g.117611590C>G | CA368991775 | CFTR | c.3149C>G (p.Pro1050Arg) c.*2863C>G (n.*2863C>G) c.2966C>G (p.Pro989Arg) c.*1449C>G (n.*1449C>G) c.*2973C>G (n.*2973C>G) c.2723C>G (p.Pro908Arg) c.740C>G (p.Pro247Arg) c.799C>G c.1931C>G (p.Pro644Arg) c.3059C>G (p.Pro1020Arg) c.3239C>G (p.Pro1080Arg) c.2906C>G (p.Pro969Arg) | |
| 7 | g.117611590C>T | CA368991778 | CFTR | c.3149C>T (p.Pro1050Leu) c.*2863C>T (n.*2863C>T) c.2966C>T (p.Pro989Leu) c.*1449C>T (n.*1449C>T) c.*2973C>T (n.*2973C>T) c.2723C>T (p.Pro908Leu) c.740C>T (p.Pro247Leu) c.799C>T c.1931C>T (p.Pro644Leu) c.3059C>T (p.Pro1020Leu) c.3239C>T (p.Pro1080Leu) c.2906C>T (p.Pro969Leu) | |
| 7 | g.117611591A>C | CA457229974 | CFTR | c.3150A>C (p.Pro1050=) c.*2864A>C (n.*2864A>C) c.2967A>C (p.Pro989=) c.*1450A>C (n.*1450A>C) c.*2974A>C (n.*2974A>C) c.2724A>C (p.Pro908=) c.741A>C (p.Pro247=) c.800A>C c.1932A>C (p.Pro644=) c.3060A>C (p.Pro1020=) c.3240A>C (p.Pro1080=) c.2907A>C (p.Pro969=) | |
| 7 | g.117611591A>G | CA457229975 | CFTR | c.3150A>G (p.Pro1050=) c.*2864A>G (n.*2864A>G) c.2967A>G (p.Pro989=) c.*1450A>G (n.*1450A>G) c.*2974A>G (n.*2974A>G) c.2724A>G (p.Pro908=) c.741A>G (p.Pro247=) c.800A>G c.1932A>G (p.Pro644=) c.3060A>G (p.Pro1020=) c.3240A>G (p.Pro1080=) c.2907A>G (p.Pro969=) | |
| 7 | g.117611591A>T | CA457229976 | CFTR | c.3150A>T (p.Pro1050=) c.*2864A>T (n.*2864A>T) c.2967A>T (p.Pro989=) c.*1450A>T (n.*1450A>T) c.*2974A>T (n.*2974A>T) c.2724A>T (p.Pro908=) c.741A>T (p.Pro247=) c.800A>T c.1932A>T (p.Pro644=) c.3060A>T (p.Pro1020=) c.3240A>T (p.Pro1080=) c.2907A>T (p.Pro969=) | |
| 7 | g.117611592A= | CA1737386681 | CFTR | c.3151A= (p.Ile1051=) c.*2865A= (n.*2865A=) c.2968A= (p.Ile990=) c.*1451A= (n.*1451A=) c.*2975A= (n.*2975A=) c.2725A= (p.Ile909=) c.742A= (p.Ile248=) c.801A= c.1933A= (p.Ile645=) c.3061A= (p.Ile1021=) c.3241A= (p.Ile1081=) c.2908A= (p.Ile970=) |