WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117611657T>A | CA457230020 | CFTR | c.3216T>A (p.Pro1072=) c.*2930T>A (n.*2930T>A) c.3033T>A (p.Pro1011=) c.*1516T>A (n.*1516T>A) c.*3040T>A (n.*3040T>A) c.2790T>A (p.Pro930=) c.807T>A (p.Pro269=) c.866T>A c.1998T>A (p.Pro666=) c.3126T>A (p.Pro1042=) c.41T>A c.3306T>A (p.Pro1102=) c.2973T>A (p.Pro991=) | |
| 7 | g.117611657T>C | CA457230021 | CFTR | c.3216T>C (p.Pro1072=) c.*2930T>C (n.*2930T>C) c.3033T>C (p.Pro1011=) c.*1516T>C (n.*1516T>C) c.*3040T>C (n.*3040T>C) c.2790T>C (p.Pro930=) c.807T>C (p.Pro269=) c.866T>C c.1998T>C (p.Pro666=) c.3126T>C (p.Pro1042=) c.41T>C c.3306T>C (p.Pro1102=) c.2973T>C (p.Pro991=) | |
| 7 | g.117611657T>G | CA457230022 | CFTR | c.3216T>G (p.Pro1072=) c.*2930T>G (n.*2930T>G) c.3033T>G (p.Pro1011=) c.*1516T>G (n.*1516T>G) c.*3040T>G (n.*3040T>G) c.2790T>G (p.Pro930=) c.807T>G (p.Pro269=) c.866T>G c.1998T>G (p.Pro666=) c.3126T>G (p.Pro1042=) c.41T>G c.3306T>G (p.Pro1102=) c.2973T>G (p.Pro991=) | |
| 7 | g.117611658dup | CA4451409 | CFTR | c.3217dup (p.Tyr1073LeufsTer3) c.*2931dup (n.*2931dup) c.3034dup (p.Tyr1012LeufsTer3) c.*1517dup (n.*1517dup) c.*3041dup (n.*3041dup) c.2791dup (p.Tyr931LeufsTer3) c.808dup (p.Tyr270LeufsTer3) c.867dup c.1999dup (p.Tyr667LeufsTer3) c.3127dup (p.Tyr1043LeufsTer3) c.42dup c.3307dup (p.Tyr1103LeufsTer3) c.2974dup (p.Tyr992LeufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611658T>A | CA368992118 | CFTR | c.3217T>A (p.Tyr1073Asn) c.*2931T>A (n.*2931T>A) c.3034T>A (p.Tyr1012Asn) c.*1517T>A (n.*1517T>A) c.*3041T>A (n.*3041T>A) c.2791T>A (p.Tyr931Asn) c.808T>A (p.Tyr270Asn) c.867T>A c.1999T>A (p.Tyr667Asn) c.3127T>A (p.Tyr1043Asn) c.42T>A c.3307T>A (p.Tyr1103Asn) c.2974T>A (p.Tyr992Asn) | |
| 7 | g.117611658T>C | CA368992120 | CFTR | c.3217T>C (p.Tyr1073His) c.*2931T>C (n.*2931T>C) c.3034T>C (p.Tyr1012His) c.*1517T>C (n.*1517T>C) c.*3041T>C (n.*3041T>C) c.2791T>C (p.Tyr931His) c.808T>C (p.Tyr270His) c.867T>C c.1999T>C (p.Tyr667His) c.3127T>C (p.Tyr1043His) c.42T>C c.3307T>C (p.Tyr1103His) c.2974T>C (p.Tyr992His) | |
| 7 | g.117611658T>G | CA368992122 | CFTR | c.3217T>G (p.Tyr1073Asp) c.*2931T>G (n.*2931T>G) c.3034T>G (p.Tyr1012Asp) c.*1517T>G (n.*1517T>G) c.*3041T>G (n.*3041T>G) c.2791T>G (p.Tyr931Asp) c.808T>G (p.Tyr270Asp) c.867T>G c.1999T>G (p.Tyr667Asp) c.3127T>G (p.Tyr1043Asp) c.42T>G c.3307T>G (p.Tyr1103Asp) c.2974T>G (p.Tyr992Asp) | gnomAD v4 |
| 7 | g.117611659A>C | CA368992128 | CFTR | c.3218A>C (p.Tyr1073Ser) c.*2932A>C (n.*2932A>C) c.3035A>C (p.Tyr1012Ser) c.*1518A>C (n.*1518A>C) c.*3042A>C (n.*3042A>C) c.2792A>C (p.Tyr931Ser) c.809A>C (p.Tyr270Ser) c.868A>C c.2000A>C (p.Tyr667Ser) c.3128A>C (p.Tyr1043Ser) c.43A>C c.3308A>C (p.Tyr1103Ser) c.2975A>C (p.Tyr992Ser) | |
| 7 | g.117611659A>G | CA368992125 | CFTR | c.3218A>G (p.Tyr1073Cys) c.*2932A>G (n.*2932A>G) c.3035A>G (p.Tyr1012Cys) c.*1518A>G (n.*1518A>G) c.*3042A>G (n.*3042A>G) c.2792A>G (p.Tyr931Cys) c.809A>G (p.Tyr270Cys) c.868A>G c.2000A>G (p.Tyr667Cys) c.3128A>G (p.Tyr1043Cys) c.43A>G c.3308A>G (p.Tyr1103Cys) c.2975A>G (p.Tyr992Cys) | |
| 7 | g.117611659A>T | CA368992126 | CFTR | c.3218A>T (p.Tyr1073Phe) c.*2932A>T (n.*2932A>T) c.3035A>T (p.Tyr1012Phe) c.*1518A>T (n.*1518A>T) c.*3042A>T (n.*3042A>T) c.2792A>T (p.Tyr931Phe) c.809A>T (p.Tyr270Phe) c.868A>T c.2000A>T (p.Tyr667Phe) c.3128A>T (p.Tyr1043Phe) c.43A>T c.3308A>T (p.Tyr1103Phe) c.2975A>T (p.Tyr992Phe) | |
| 7 | g.117611659_117611660delinsAC | CA1737387069 | CFTR | c.3218_3219delinsAC (p.Tyr1073=) c.*2932_*2933delinsAC (n.*2932_*2933delinsAC) c.3035_3036delinsAC (p.Tyr1012=) c.*1518_*1519delinsAC (n.*1518_*1519delinsAC) c.*3042_*3043delinsAC (n.*3042_*3043delinsAC) c.2792_2793delinsAC (p.Tyr931=) c.809_810delinsAC (p.Tyr270=) c.868_869delinsAC c.2000_2001delinsAC (p.Tyr667=) c.3128_3129delinsAC (p.Tyr1043=) c.43_44delinsAC c.3308_3309delinsAC (p.Tyr1103=) c.2975_2976delinsAC (p.Tyr992=) | |
| 7 | g.117611660del | CA918111983 | CFTR | c.3219del (p.Phe1074LeufsTer9) c.*2933del (n.*2933del) c.3036del (p.Phe1013LeufsTer9) c.*1519del (n.*1519del) c.*3043del (n.*3043del) c.2793del (p.Phe932LeufsTer9) c.810del (p.Phe271LeufsTer9) c.869del c.2001del (p.Phe668LeufsTer9) c.3129del (p.Phe1044LeufsTer9) c.44del c.3309del (p.Phe1104LeufsTer9) c.2976del (p.Phe993LeufsTer9) | dbSNP |
| 7 | g.117611660C>A | CA368992131 | CFTR | c.3219C>A (p.Tyr1073Ter) c.*2933C>A (n.*2933C>A) c.3036C>A (p.Tyr1012Ter) c.*1519C>A (n.*1519C>A) c.*3043C>A (n.*3043C>A) c.2793C>A (p.Tyr931Ter) c.810C>A (p.Tyr270Ter) c.869C>A c.2001C>A (p.Tyr667Ter) c.3129C>A (p.Tyr1043Ter) c.44C>A c.3309C>A (p.Tyr1103Ter) c.2976C>A (p.Tyr992Ter) | |
| 7 | g.117611660C= | CA1737387074 | CFTR | c.3219C= (p.Tyr1073=) c.*2933C= (n.*2933C=) c.3036C= (p.Tyr1012=) c.*1519C= (n.*1519C=) c.*3043C= (n.*3043C=) c.2793C= (p.Tyr931=) c.810C= (p.Tyr270=) c.869C= c.2001C= (p.Tyr667=) c.3129C= (p.Tyr1043=) c.44C= c.3309C= (p.Tyr1103=) c.2976C= (p.Tyr992=) | |
| 7 | g.117611660C>G | CA368992132 | CFTR | c.3219C>G (p.Tyr1073Ter) c.*2933C>G (n.*2933C>G) c.3036C>G (p.Tyr1012Ter) c.*1519C>G (n.*1519C>G) c.*3043C>G (n.*3043C>G) c.2793C>G (p.Tyr931Ter) c.810C>G (p.Tyr270Ter) c.869C>G c.2001C>G (p.Tyr667Ter) c.3129C>G (p.Tyr1043Ter) c.44C>G c.3309C>G (p.Tyr1103Ter) c.2976C>G (p.Tyr992Ter) | |
| 7 | g.117611660C>T | CA457230023 | CFTR | c.3219C>T (p.Tyr1073=) c.*2933C>T (n.*2933C>T) c.3036C>T (p.Tyr1012=) c.*1519C>T (n.*1519C>T) c.*3043C>T (n.*3043C>T) c.2793C>T (p.Tyr931=) c.810C>T (p.Tyr270=) c.869C>T c.2001C>T (p.Tyr667=) c.3129C>T (p.Tyr1043=) c.44C>T c.3309C>T (p.Tyr1103=) c.2976C>T (p.Tyr992=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611661T>A | CA368992134 | CFTR | c.3220T>A (p.Phe1074Ile) c.*2934T>A (n.*2934T>A) c.3037T>A (p.Phe1013Ile) c.*1520T>A (n.*1520T>A) c.*3044T>A (n.*3044T>A) c.2794T>A (p.Phe932Ile) c.811T>A (p.Phe271Ile) c.870T>A c.2002T>A (p.Phe668Ile) c.3130T>A (p.Phe1044Ile) c.45T>A c.3310T>A (p.Phe1104Ile) c.2977T>A (p.Phe993Ile) | |
| 7 | g.117611661T>C | CA368992136 | CFTR | c.3220T>C (p.Phe1074Leu) c.*2934T>C (n.*2934T>C) c.3037T>C (p.Phe1013Leu) c.*1520T>C (n.*1520T>C) c.*3044T>C (n.*3044T>C) c.2794T>C (p.Phe932Leu) c.811T>C (p.Phe271Leu) c.870T>C c.2002T>C (p.Phe668Leu) c.3130T>C (p.Phe1044Leu) c.45T>C c.3310T>C (p.Phe1104Leu) c.2977T>C (p.Phe993Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611661T>G | CA368992138 | CFTR | c.3220T>G (p.Phe1074Val) c.*2934T>G (n.*2934T>G) c.3037T>G (p.Phe1013Val) c.*1520T>G (n.*1520T>G) c.*3044T>G (n.*3044T>G) c.2794T>G (p.Phe932Val) c.811T>G (p.Phe271Val) c.870T>G c.2002T>G (p.Phe668Val) c.3130T>G (p.Phe1044Val) c.45T>G c.3310T>G (p.Phe1104Val) c.2977T>G (p.Phe993Val) | |
| 7 | g.117611661T= | CA1737387077 | CFTR | c.3220T= (p.Phe1074=) c.*2934T= (n.*2934T=) c.3037T= (p.Phe1013=) c.*1520T= (n.*1520T=) c.*3044T= (n.*3044T=) c.2794T= (p.Phe932=) c.811T= (p.Phe271=) c.870T= c.2002T= (p.Phe668=) c.3130T= (p.Phe1044=) c.45T= c.3310T= (p.Phe1104=) c.2977T= (p.Phe993=) | |
| 7 | g.117611662T>A | CA368992139 | CFTR | c.3221T>A (p.Phe1074Tyr) c.*2935T>A (n.*2935T>A) c.3038T>A (p.Phe1013Tyr) c.*1521T>A (n.*1521T>A) c.*3045T>A (n.*3045T>A) c.2795T>A (p.Phe932Tyr) c.812T>A (p.Phe271Tyr) c.871T>A c.2003T>A (p.Phe668Tyr) c.3131T>A (p.Phe1044Tyr) c.46T>A c.3311T>A (p.Phe1104Tyr) c.2978T>A (p.Phe993Tyr) | |
| 7 | g.117611662T>C | CA368992141 | CFTR | c.3221T>C (p.Phe1074Ser) c.*2935T>C (n.*2935T>C) c.3038T>C (p.Phe1013Ser) c.*1521T>C (n.*1521T>C) c.*3045T>C (n.*3045T>C) c.2795T>C (p.Phe932Ser) c.812T>C (p.Phe271Ser) c.871T>C c.2003T>C (p.Phe668Ser) c.3131T>C (p.Phe1044Ser) c.46T>C c.3311T>C (p.Phe1104Ser) c.2978T>C (p.Phe993Ser) | |
| 7 | g.117611662T>G | CA368992142 | CFTR | c.3221T>G (p.Phe1074Cys) c.*2935T>G (n.*2935T>G) c.3038T>G (p.Phe1013Cys) c.*1521T>G (n.*1521T>G) c.*3045T>G (n.*3045T>G) c.2795T>G (p.Phe932Cys) c.812T>G (p.Phe271Cys) c.871T>G c.2003T>G (p.Phe668Cys) c.3131T>G (p.Phe1044Cys) c.46T>G c.3311T>G (p.Phe1104Cys) c.2978T>G (p.Phe993Cys) | |
| 7 | g.117611663T>A | CA327103 | CFTR | c.3222T>A (p.Phe1074Leu) c.*2936T>A (n.*2936T>A) c.3039T>A (p.Phe1013Leu) c.*1522T>A (n.*1522T>A) c.*3046T>A (n.*3046T>A) c.2796T>A (p.Phe932Leu) c.813T>A (p.Phe271Leu) c.872T>A c.2004T>A (p.Phe668Leu) c.3132T>A (p.Phe1044Leu) c.47T>A c.3312T>A (p.Phe1104Leu) c.2979T>A (p.Phe993Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611663T>C | CA457230024 | CFTR | c.3222T>C (p.Phe1074=) c.*2936T>C (n.*2936T>C) c.3039T>C (p.Phe1013=) c.*1522T>C (n.*1522T>C) c.*3046T>C (n.*3046T>C) c.2796T>C (p.Phe932=) c.813T>C (p.Phe271=) c.872T>C c.2004T>C (p.Phe668=) c.3132T>C (p.Phe1044=) c.47T>C c.3312T>C (p.Phe1104=) c.2979T>C (p.Phe993=) | |
| 7 | g.117611663T>G | CA368992145 | CFTR | c.3222T>G (p.Phe1074Leu) c.*2936T>G (n.*2936T>G) c.3039T>G (p.Phe1013Leu) c.*1522T>G (n.*1522T>G) c.*3046T>G (n.*3046T>G) c.2796T>G (p.Phe932Leu) c.813T>G (p.Phe271Leu) c.872T>G c.2004T>G (p.Phe668Leu) c.3132T>G (p.Phe1044Leu) c.47T>G c.3312T>G (p.Phe1104Leu) c.2979T>G (p.Phe993Leu) | dbSNP |
| 7 | g.117611663T= | CA1737387082 | CFTR | c.3222T= (p.Phe1074=) c.*2936T= (n.*2936T=) c.3039T= (p.Phe1013=) c.*1522T= (n.*1522T=) c.*3046T= (n.*3046T=) c.2796T= (p.Phe932=) c.813T= (p.Phe271=) c.872T= c.2004T= (p.Phe668=) c.3132T= (p.Phe1044=) c.47T= c.3312T= (p.Phe1104=) c.2979T= (p.Phe993=) | |
| 7 | g.117611664G>A | CA368992146 | CFTR | c.3223G>A (p.Glu1075Lys) c.*2937G>A (n.*2937G>A) c.3040G>A (p.Glu1014Lys) c.*1523G>A (n.*1523G>A) c.*3047G>A (n.*3047G>A) c.2797G>A (p.Glu933Lys) c.814G>A (p.Glu272Lys) c.873G>A c.2005G>A (p.Glu669Lys) c.3133G>A (p.Glu1045Lys) c.48G>A c.3313G>A (p.Glu1105Lys) c.2980G>A (p.Glu994Lys) | |
| 7 | g.117611664G>C | CA368992147 | CFTR | c.3223G>C (p.Glu1075Gln) c.*2937G>C (n.*2937G>C) c.3040G>C (p.Glu1014Gln) c.*1523G>C (n.*1523G>C) c.*3047G>C (n.*3047G>C) c.2797G>C (p.Glu933Gln) c.814G>C (p.Glu272Gln) c.873G>C c.2005G>C (p.Glu669Gln) c.3133G>C (p.Glu1045Gln) c.48G>C c.3313G>C (p.Glu1105Gln) c.2980G>C (p.Glu994Gln) | |
| 7 | g.117611664G>T | CA368992149 | CFTR | c.3223G>T (p.Glu1075Ter) c.*2937G>T (n.*2937G>T) c.3040G>T (p.Glu1014Ter) c.*1523G>T (n.*1523G>T) c.*3047G>T (n.*3047G>T) c.2797G>T (p.Glu933Ter) c.814G>T (p.Glu272Ter) c.873G>T c.2005G>T (p.Glu669Ter) c.3133G>T (p.Glu1045Ter) c.48G>T c.3313G>T (p.Glu1105Ter) c.2980G>T (p.Glu994Ter) | |
| 7 | g.117611665A>C | CA368992153 | CFTR | c.3224A>C (p.Glu1075Ala) c.*2938A>C (n.*2938A>C) c.3041A>C (p.Glu1014Ala) c.*1524A>C (n.*1524A>C) c.*3048A>C (n.*3048A>C) c.2798A>C (p.Glu933Ala) c.815A>C (p.Glu272Ala) c.874A>C c.2006A>C (p.Glu669Ala) c.3134A>C (p.Glu1045Ala) c.49A>C c.3314A>C (p.Glu1105Ala) c.2981A>C (p.Glu994Ala) | |
| 7 | g.117611665A>G | CA368992154 | CFTR | c.3224A>G (p.Glu1075Gly) c.*2938A>G (n.*2938A>G) c.3041A>G (p.Glu1014Gly) c.*1524A>G (n.*1524A>G) c.*3048A>G (n.*3048A>G) c.2798A>G (p.Glu933Gly) c.815A>G (p.Glu272Gly) c.874A>G c.2006A>G (p.Glu669Gly) c.3134A>G (p.Glu1045Gly) c.49A>G c.3314A>G (p.Glu1105Gly) c.2981A>G (p.Glu994Gly) | |
| 7 | g.117611665A>T | CA368992151 | CFTR | c.3224A>T (p.Glu1075Val) c.*2938A>T (n.*2938A>T) c.3041A>T (p.Glu1014Val) c.*1524A>T (n.*1524A>T) c.*3048A>T (n.*3048A>T) c.2798A>T (p.Glu933Val) c.815A>T (p.Glu272Val) c.874A>T c.2006A>T (p.Glu669Val) c.3134A>T (p.Glu1045Val) c.49A>T c.3314A>T (p.Glu1105Val) c.2981A>T (p.Glu994Val) | |
| 7 | g.117611666A>C | CA368992158 | CFTR | c.3225A>C (p.Glu1075Asp) c.*2939A>C (n.*2939A>C) c.3042A>C (p.Glu1014Asp) c.*1525A>C (n.*1525A>C) c.*3049A>C (n.*3049A>C) c.2799A>C (p.Glu933Asp) c.816A>C (p.Glu272Asp) c.875A>C c.2007A>C (p.Glu669Asp) c.3135A>C (p.Glu1045Asp) c.50A>C c.3315A>C (p.Glu1105Asp) c.2982A>C (p.Glu994Asp) | |
| 7 | g.117611666A>G | CA457230025 | CFTR | c.3225A>G (p.Glu1075=) c.*2939A>G (n.*2939A>G) c.3042A>G (p.Glu1014=) c.*1525A>G (n.*1525A>G) c.*3049A>G (n.*3049A>G) c.2799A>G (p.Glu933=) c.816A>G (p.Glu272=) c.875A>G c.2007A>G (p.Glu669=) c.3135A>G (p.Glu1045=) c.50A>G c.3315A>G (p.Glu1105=) c.2982A>G (p.Glu994=) | |
| 7 | g.117611666A>T | CA368992156 | CFTR | c.3225A>T (p.Glu1075Asp) c.*2939A>T (n.*2939A>T) c.3042A>T (p.Glu1014Asp) c.*1525A>T (n.*1525A>T) c.*3049A>T (n.*3049A>T) c.2799A>T (p.Glu933Asp) c.816A>T (p.Glu272Asp) c.875A>T c.2007A>T (p.Glu669Asp) c.3135A>T (p.Glu1045Asp) c.50A>T c.3315A>T (p.Glu1105Asp) c.2982A>T (p.Glu994Asp) | |
| 7 | g.117611667A>C | CA368992164 | CFTR | c.3226A>C (p.Thr1076Pro) c.*2940A>C (n.*2940A>C) c.3043A>C (p.Thr1015Pro) c.*1526A>C (n.*1526A>C) c.*3050A>C (n.*3050A>C) c.2800A>C (p.Thr934Pro) c.817A>C (p.Thr273Pro) c.876A>C c.2008A>C (p.Thr670Pro) c.3136A>C (p.Thr1046Pro) c.51A>C c.3316A>C (p.Thr1106Pro) c.2983A>C (p.Thr995Pro) | ClinVar |
| 7 | g.117611667A>G | CA368992160 | CFTR | c.3226A>G (p.Thr1076Ala) c.*2940A>G (n.*2940A>G) c.3043A>G (p.Thr1015Ala) c.*1526A>G (n.*1526A>G) c.*3050A>G (n.*3050A>G) c.2800A>G (p.Thr934Ala) c.817A>G (p.Thr273Ala) c.876A>G c.2008A>G (p.Thr670Ala) c.3136A>G (p.Thr1046Ala) c.51A>G c.3316A>G (p.Thr1106Ala) c.2983A>G (p.Thr995Ala) | ClinVar |