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.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC | CA1737375406 | CFTR | c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu953=) c.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu892=) c.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2432_2464delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu811=) c.449_481delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu150=) c.508_540delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC c.1640_1672delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu547=) c.2768_2800delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu923=) c.2948_2980delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu983=) c.2615_2647delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu872=) | |
| 7 | g.117603733_117603764del | CA326947 | CFTR | c.2859_2890del (p.Leu953PhefsTer11) c.*2573_*2604del (n.*2573_*2604del) c.2676_2707del (p.Leu892PhefsTer11) c.*1159_*1190del (n.*1159_*1190del) c.*2683_*2714del (n.*2683_*2714del) c.2433_2464del (p.Leu811PhefsTer11) c.450_481del (p.Leu150PhefsTer11) c.509_540del c.1641_1672del (p.Leu547PhefsTer11) c.2769_2800del (p.Leu923PhefsTer11) c.2949_2980del (p.Leu983PhefsTer11) c.2616_2647del (p.Leu872PhefsTer11) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117603733_117603767delinsTCAAG | CA2580617913 | CFTR | c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp) c.*2573_*2607delinsTCAAG (n.*2573_*2607delinsTCAAG) c.2676_2710delinsTCAAG (p.Leu892_Asn904delinsPheGlnAsp) c.*1159_*1193delinsTCAAG (n.*1159_*1193delinsTCAAG) c.*2683_*2717delinsTCAAG (n.*2683_*2717delinsTCAAG) c.2433_2467delinsTCAAG (p.Leu811_Asn823delinsPheGlnAsp) c.450_484delinsTCAAG (p.Leu150_Asn162delinsPheGlnAsp) c.509_543delinsTCAAG c.1641_1675delinsTCAAG (p.Leu547_Asn559delinsPheGlnAsp) c.2769_2803delinsTCAAG (p.Leu923_Asn935delinsPheGlnAsp) c.2949_2983delinsTCAAG (p.Leu983_Asn995delinsPheGlnAsp) c.2616_2650delinsTCAAG (p.Leu872_Asn884delinsPheGlnAsp) | ClinVar |
| 7 | g.117603747A>C | CA368987446 | CFTR | c.2873A>C (p.Gln958Pro) c.*2587A>C (n.*2587A>C) c.2690A>C (p.Gln897Pro) c.*1173A>C (n.*1173A>C) c.*2697A>C (n.*2697A>C) c.2447A>C (p.Gln816Pro) c.464A>C (p.Gln155Pro) c.523A>C c.1655A>C (p.Gln552Pro) c.2783A>C (p.Gln928Pro) c.2963A>C (p.Gln988Pro) c.2630A>C (p.Gln877Pro) | |
| 7 | g.117603747A>G | CA368987448 | CFTR | c.2873A>G (p.Gln958Arg) c.*2587A>G (n.*2587A>G) c.2690A>G (p.Gln897Arg) c.*1173A>G (n.*1173A>G) c.*2697A>G (n.*2697A>G) c.2447A>G (p.Gln816Arg) c.464A>G (p.Gln155Arg) c.523A>G c.1655A>G (p.Gln552Arg) c.2783A>G (p.Gln928Arg) c.2963A>G (p.Gln988Arg) c.2630A>G (p.Gln877Arg) | |
| 7 | g.117603747A>T | CA368987449 | CFTR | c.2873A>T (p.Gln958Leu) c.*2587A>T (n.*2587A>T) c.2690A>T (p.Gln897Leu) c.*1173A>T (n.*1173A>T) c.*2697A>T (n.*2697A>T) c.2447A>T (p.Gln816Leu) c.464A>T (p.Gln155Leu) c.523A>T c.1655A>T (p.Gln552Leu) c.2783A>T (p.Gln928Leu) c.2963A>T (p.Gln988Leu) c.2630A>T (p.Gln877Leu) | |
| 7 | g.117603748A= | CA1737375458 | CFTR | c.2874A= (p.Gln958=) c.*2588A= (n.*2588A=) c.2691A= (p.Gln897=) c.*1174A= (n.*1174A=) c.*2698A= (n.*2698A=) c.2448A= (p.Gln816=) c.465A= (p.Gln155=) c.524A= c.1656A= (p.Gln552=) c.2784A= (p.Gln928=) c.2964A= (p.Gln988=) c.2631A= (p.Gln877=) | |
| 7 | g.117603748A>C | CA368987450 | CFTR | c.2874A>C (p.Gln958His) c.*2588A>C (n.*2588A>C) c.2691A>C (p.Gln897His) c.*1174A>C (n.*1174A>C) c.*2698A>C (n.*2698A>C) c.2448A>C (p.Gln816His) c.465A>C (p.Gln155His) c.524A>C c.1656A>C (p.Gln552His) c.2784A>C (p.Gln928His) c.2964A>C (p.Gln988His) c.2631A>C (p.Gln877His) | |
| 7 | g.117603748A>G | CA457228030 | CFTR | c.2874A>G (p.Gln958=) c.*2588A>G (n.*2588A>G) c.2691A>G (p.Gln897=) c.*1174A>G (n.*1174A>G) c.*2698A>G (n.*2698A>G) c.2448A>G (p.Gln816=) c.465A>G (p.Gln155=) c.524A>G c.1656A>G (p.Gln552=) c.2784A>G (p.Gln928=) c.2964A>G (p.Gln988=) c.2631A>G (p.Gln877=) | dbSNP gnomAD v4 |
| 7 | g.117603748A>T | CA368987451 | CFTR | c.2874A>T (p.Gln958His) c.*2588A>T (n.*2588A>T) c.2691A>T (p.Gln897His) c.*1174A>T (n.*1174A>T) c.*2698A>T (n.*2698A>T) c.2448A>T (p.Gln816His) c.465A>T (p.Gln155His) c.524A>T c.1656A>T (p.Gln552His) c.2784A>T (p.Gln928His) c.2964A>T (p.Gln988His) c.2631A>T (p.Gln877His) | |
| 7 | g.117603748_117603749delinsAG | CA1737375457 | CFTR | c.2874_2875delinsAG (p.Gln958=) c.*2588_*2589delinsAG (n.*2588_*2589delinsAG) c.2691_2692delinsAG (p.Gln897=) c.*1174_*1175delinsAG (n.*1174_*1175delinsAG) c.*2698_*2699delinsAG (n.*2698_*2699delinsAG) c.2448_2449delinsAG (p.Gln816=) c.465_466delinsAG (p.Gln155=) c.524_525delinsAG c.1656_1657delinsAG (p.Gln552=) c.2784_2785delinsAG (p.Gln928=) c.2964_2965delinsAG (p.Gln988=) c.2631_2632delinsAG (p.Gln877=) | |
| 7 | g.117603749del | CA345316 | CFTR | c.2875del (p.Ala959HisfsTer9) c.*2589del (n.*2589del) c.2692del (p.Ala898HisfsTer9) c.*1175del (n.*1175del) c.*2699del (n.*2699del) c.2449del (p.Ala817HisfsTer9) c.466del (p.Ala156HisfsTer9) c.525del c.1657del (p.Ala553HisfsTer9) c.2785del (p.Ala929HisfsTer9) c.2965del (p.Ala989HisfsTer9) c.2632del (p.Ala878HisfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603749G>A | CA4451304 | CFTR | c.2875G>A (p.Ala959Thr) c.*2589G>A (n.*2589G>A) c.2692G>A (p.Ala898Thr) c.*1175G>A (n.*1175G>A) c.*2699G>A (n.*2699G>A) c.2449G>A (p.Ala817Thr) c.466G>A (p.Ala156Thr) c.525G>A c.1657G>A (p.Ala553Thr) c.2785G>A (p.Ala929Thr) c.2965G>A (p.Ala989Thr) c.2632G>A (p.Ala878Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603749G>C | CA368987452 | CFTR | c.2875G>C (p.Ala959Pro) c.*2589G>C (n.*2589G>C) c.2692G>C (p.Ala898Pro) c.*1175G>C (n.*1175G>C) c.*2699G>C (n.*2699G>C) c.2449G>C (p.Ala817Pro) c.466G>C (p.Ala156Pro) c.525G>C c.1657G>C (p.Ala553Pro) c.2785G>C (p.Ala929Pro) c.2965G>C (p.Ala989Pro) c.2632G>C (p.Ala878Pro) | |
| 7 | g.117603749G= | CA1737375469 | CFTR | c.2875G= (p.Ala959=) c.*2589G= (n.*2589G=) c.2692G= (p.Ala898=) c.*1175G= (n.*1175G=) c.*2699G= (n.*2699G=) c.2449G= (p.Ala817=) c.466G= (p.Ala156=) c.525G= c.1657G= (p.Ala553=) c.2785G= (p.Ala929=) c.2965G= (p.Ala989=) c.2632G= (p.Ala878=) | |
| 7 | g.117603749G>T | CA368987454 | CFTR | c.2875G>T (p.Ala959Ser) c.*2589G>T (n.*2589G>T) c.2692G>T (p.Ala898Ser) c.*1175G>T (n.*1175G>T) c.*2699G>T (n.*2699G>T) c.2449G>T (p.Ala817Ser) c.466G>T (p.Ala156Ser) c.525G>T c.1657G>T (p.Ala553Ser) c.2785G>T (p.Ala929Ser) c.2965G>T (p.Ala989Ser) c.2632G>T (p.Ala878Ser) | |
| 7 | g.117603750del | CA368987472 | CFTR | c.2876del (p.Ala959AspfsTer9) c.*2590del (n.*2590del) c.2693del (p.Ala898AspfsTer9) c.*1176del (n.*1176del) c.*2700del (n.*2700del) c.2450del (p.Ala817AspfsTer9) c.467del (p.Ala156AspfsTer9) c.526del c.1658del (p.Ala553AspfsTer9) c.2786del (p.Ala929AspfsTer9) c.2966del (p.Ala989AspfsTer9) c.2633del (p.Ala878AspfsTer9) | |
| 7 | g.117603750C>A | CA368987459 | CFTR | c.2876C>A (p.Ala959Glu) c.*2590C>A (n.*2590C>A) c.2693C>A (p.Ala898Glu) c.*1176C>A (n.*1176C>A) c.*2700C>A (n.*2700C>A) c.2450C>A (p.Ala817Glu) c.467C>A (p.Ala156Glu) c.526C>A c.1658C>A (p.Ala553Glu) c.2786C>A (p.Ala929Glu) c.2966C>A (p.Ala989Glu) c.2633C>A (p.Ala878Glu) | |
| 7 | g.117603750C= | CA1737375475 | CFTR | c.2876C= (p.Ala959=) c.*2590C= (n.*2590C=) c.2693C= (p.Ala898=) c.*1176C= (n.*1176C=) c.*2700C= (n.*2700C=) c.2450C= (p.Ala817=) c.467C= (p.Ala156=) c.526C= c.1658C= (p.Ala553=) c.2786C= (p.Ala929=) c.2966C= (p.Ala989=) c.2633C= (p.Ala878=) | |
| 7 | g.117603750C>G | CA368987467 | CFTR | c.2876C>G (p.Ala959Gly) c.*2590C>G (n.*2590C>G) c.2693C>G (p.Ala898Gly) c.*1176C>G (n.*1176C>G) c.*2700C>G (n.*2700C>G) c.2450C>G (p.Ala817Gly) c.467C>G (p.Ala156Gly) c.526C>G c.1658C>G (p.Ala553Gly) c.2786C>G (p.Ala929Gly) c.2966C>G (p.Ala989Gly) c.2633C>G (p.Ala878Gly) | |
| 7 | g.117603750C>T | CA326950 | CFTR | c.2876C>T (p.Ala959Val) c.*2590C>T (n.*2590C>T) c.2693C>T (p.Ala898Val) c.*1176C>T (n.*1176C>T) c.*2700C>T (n.*2700C>T) c.2450C>T (p.Ala817Val) c.467C>T (p.Ala156Val) c.526C>T c.1658C>T (p.Ala553Val) c.2786C>T (p.Ala929Val) c.2966C>T (p.Ala989Val) c.2633C>T (p.Ala878Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603751A>C | CA457228031 | CFTR | c.2877A>C (p.Ala959=) c.*2591A>C (n.*2591A>C) c.2694A>C (p.Ala898=) c.*1177A>C (n.*1177A>C) c.*2701A>C (n.*2701A>C) c.2451A>C (p.Ala817=) c.468A>C (p.Ala156=) c.527A>C c.1659A>C (p.Ala553=) c.2787A>C (p.Ala929=) c.2967A>C (p.Ala989=) c.2634A>C (p.Ala878=) | |
| 7 | g.117603751A>G | CA457228032 | CFTR | c.2877A>G (p.Ala959=) c.*2591A>G (n.*2591A>G) c.2694A>G (p.Ala898=) c.*1177A>G (n.*1177A>G) c.*2701A>G (n.*2701A>G) c.2451A>G (p.Ala817=) c.468A>G (p.Ala156=) c.527A>G c.1659A>G (p.Ala553=) c.2787A>G (p.Ala929=) c.2967A>G (p.Ala989=) c.2634A>G (p.Ala878=) | |
| 7 | g.117603751A>T | CA457228033 | CFTR | c.2877A>T (p.Ala959=) c.*2591A>T (n.*2591A>T) c.2694A>T (p.Ala898=) c.*1177A>T (n.*1177A>T) c.*2701A>T (n.*2701A>T) c.2451A>T (p.Ala817=) c.468A>T (p.Ala156=) c.527A>T c.1659A>T (p.Ala553=) c.2787A>T (p.Ala929=) c.2967A>T (p.Ala989=) c.2634A>T (p.Ala878=) | |
| 7 | g.117603752C>A | CA368987490 | CFTR | c.2878C>A (p.Pro960Thr) c.*2592C>A (n.*2592C>A) c.2695C>A (p.Pro899Thr) c.*1178C>A (n.*1178C>A) c.*2702C>A (n.*2702C>A) c.2452C>A (p.Pro818Thr) c.469C>A (p.Pro157Thr) c.528C>A c.1660C>A (p.Pro554Thr) c.2788C>A (p.Pro930Thr) c.2968C>A (p.Pro990Thr) c.2635C>A (p.Pro879Thr) | |
| 7 | g.117603752C= | CA1737375484 | CFTR | c.2878C= (p.Pro960=) c.*2592C= (n.*2592C=) c.2695C= (p.Pro899=) c.*1178C= (n.*1178C=) c.*2702C= (n.*2702C=) c.2452C= (p.Pro818=) c.469C= (p.Pro157=) c.528C= c.1660C= (p.Pro554=) c.2788C= (p.Pro930=) c.2968C= (p.Pro990=) c.2635C= (p.Pro879=) | |
| 7 | g.117603752C>G | CA368987485 | CFTR | c.2878C>G (p.Pro960Ala) c.*2592C>G (n.*2592C>G) c.2695C>G (p.Pro899Ala) c.*1178C>G (n.*1178C>G) c.*2702C>G (n.*2702C>G) c.2452C>G (p.Pro818Ala) c.469C>G (p.Pro157Ala) c.528C>G c.1660C>G (p.Pro554Ala) c.2788C>G (p.Pro930Ala) c.2968C>G (p.Pro990Ala) c.2635C>G (p.Pro879Ala) | |
| 7 | g.117603752C>T | CA4451305 | CFTR | c.2878C>T (p.Pro960Ser) c.*2592C>T (n.*2592C>T) c.2695C>T (p.Pro899Ser) c.*1178C>T (n.*1178C>T) c.*2702C>T (n.*2702C>T) c.2452C>T (p.Pro818Ser) c.469C>T (p.Pro157Ser) c.528C>T c.1660C>T (p.Pro554Ser) c.2788C>T (p.Pro930Ser) c.2968C>T (p.Pro990Ser) c.2635C>T (p.Pro879Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603752_117603756delinsCCTAT | CA1737375489 | CFTR | c.2878_2882delinsCCTAT (p.Pro960=) c.*2592_*2596delinsCCTAT (n.*2592_*2596delinsCCTAT) c.2695_2699delinsCCTAT (p.Pro899=) c.*1178_*1182delinsCCTAT (n.*1178_*1182delinsCCTAT) c.*2702_*2706delinsCCTAT (n.*2702_*2706delinsCCTAT) c.2452_2456delinsCCTAT (p.Pro818=) c.469_473delinsCCTAT (p.Pro157=) c.528_532delinsCCTAT c.1660_1664delinsCCTAT (p.Pro554=) c.2788_2792delinsCCTAT (p.Pro930=) c.2968_2972delinsCCTAT (p.Pro990=) c.2635_2639delinsCCTAT (p.Pro879=) | |
| 7 | g.117603753C>A | CA368987494 | CFTR | c.2879C>A (p.Pro960His) c.*2593C>A (n.*2593C>A) c.2696C>A (p.Pro899His) c.*1179C>A (n.*1179C>A) c.*2703C>A (n.*2703C>A) c.2453C>A (p.Pro818His) c.470C>A (p.Pro157His) c.529C>A c.1661C>A (p.Pro554His) c.2789C>A (p.Pro930His) c.2969C>A (p.Pro990His) c.2636C>A (p.Pro879His) | |
| 7 | g.117603753C= | CA1737375493 | CFTR | c.2879C= (p.Pro960=) c.*2593C= (n.*2593C=) c.2696C= (p.Pro899=) c.*1179C= (n.*1179C=) c.*2703C= (n.*2703C=) c.2453C= (p.Pro818=) c.470C= (p.Pro157=) c.529C= c.1661C= (p.Pro554=) c.2789C= (p.Pro930=) c.2969C= (p.Pro990=) c.2636C= (p.Pro879=) | |
| 7 | g.117603753C>G | CA368987509 | CFTR | c.2879C>G (p.Pro960Arg) c.*2593C>G (n.*2593C>G) c.2696C>G (p.Pro899Arg) c.*1179C>G (n.*1179C>G) c.*2703C>G (n.*2703C>G) c.2453C>G (p.Pro818Arg) c.470C>G (p.Pro157Arg) c.529C>G c.1661C>G (p.Pro554Arg) c.2789C>G (p.Pro930Arg) c.2969C>G (p.Pro990Arg) c.2636C>G (p.Pro879Arg) | |
| 7 | g.117603753C>T | CA368987512 | CFTR | c.2879C>T (p.Pro960Leu) c.*2593C>T (n.*2593C>T) c.2696C>T (p.Pro899Leu) c.*1179C>T (n.*1179C>T) c.*2703C>T (n.*2703C>T) c.2453C>T (p.Pro818Leu) c.470C>T (p.Pro157Leu) c.529C>T c.1661C>T (p.Pro554Leu) c.2789C>T (p.Pro930Leu) c.2969C>T (p.Pro990Leu) c.2636C>T (p.Pro879Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603753_117603756del | CA913190199 | CFTR | c.2879_2882del (p.Pro960ArgfsTer7) c.*2593_*2596del (n.*2593_*2596del) c.2696_2699del (p.Pro899ArgfsTer7) c.*1179_*1182del (n.*1179_*1182del) c.*2703_*2706del (n.*2703_*2706del) c.2453_2456del (p.Pro818ArgfsTer7) c.470_473del (p.Pro157ArgfsTer7) c.529_532del c.1661_1664del (p.Pro554ArgfsTer7) c.2789_2792del (p.Pro930ArgfsTer7) c.2969_2972del (p.Pro990ArgfsTer7) c.2636_2639del (p.Pro879ArgfsTer7) | ClinVar dbSNP |
| 7 | g.117603754T>A | CA457228034 | CFTR | c.2880T>A (p.Pro960=) c.*2594T>A (n.*2594T>A) c.2697T>A (p.Pro899=) c.*1180T>A (n.*1180T>A) c.*2704T>A (n.*2704T>A) c.2454T>A (p.Pro818=) c.471T>A (p.Pro157=) c.530T>A c.1662T>A (p.Pro554=) c.2790T>A (p.Pro930=) c.2970T>A (p.Pro990=) c.2637T>A (p.Pro879=) | |
| 7 | g.117603754T>C | CA457228035 | CFTR | c.2880T>C (p.Pro960=) c.*2594T>C (n.*2594T>C) c.2697T>C (p.Pro899=) c.*1180T>C (n.*1180T>C) c.*2704T>C (n.*2704T>C) c.2454T>C (p.Pro818=) c.471T>C (p.Pro157=) c.530T>C c.1662T>C (p.Pro554=) c.2790T>C (p.Pro930=) c.2970T>C (p.Pro990=) c.2637T>C (p.Pro879=) | ClinVar gnomAD v4 |
| 7 | g.117603754T>G | CA457228036 | CFTR | c.2880T>G (p.Pro960=) c.*2594T>G (n.*2594T>G) c.2697T>G (p.Pro899=) c.*1180T>G (n.*1180T>G) c.*2704T>G (n.*2704T>G) c.2454T>G (p.Pro818=) c.471T>G (p.Pro157=) c.530T>G c.1662T>G (p.Pro554=) c.2790T>G (p.Pro930=) c.2970T>G (p.Pro990=) c.2637T>G (p.Pro879=) | |
| 7 | g.117603755A= | CA1737375498 | CFTR | c.2881A= (p.Met961=) c.*2595A= (n.*2595A=) c.2698A= (p.Met900=) c.*1181A= (n.*1181A=) c.*2705A= (n.*2705A=) c.2455A= (p.Met819=) c.472A= (p.Met158=) c.531A= c.1663A= (p.Met555=) c.2791A= (p.Met931=) c.2971A= (p.Met991=) c.2638A= (p.Met880=) | |
| 7 | g.117603755A>C | CA368987516 | CFTR | c.2881A>C (p.Met961Leu) c.*2595A>C (n.*2595A>C) c.2698A>C (p.Met900Leu) c.*1181A>C (n.*1181A>C) c.*2705A>C (n.*2705A>C) c.2455A>C (p.Met819Leu) c.472A>C (p.Met158Leu) c.531A>C c.1663A>C (p.Met555Leu) c.2791A>C (p.Met931Leu) c.2971A>C (p.Met991Leu) c.2638A>C (p.Met880Leu) | |
| 7 | g.117603755A>G | CA368987519 | CFTR | c.2881A>G (p.Met961Val) c.*2595A>G (n.*2595A>G) c.2698A>G (p.Met900Val) c.*1181A>G (n.*1181A>G) c.*2705A>G (n.*2705A>G) c.2455A>G (p.Met819Val) c.472A>G (p.Met158Val) c.531A>G c.1663A>G (p.Met555Val) c.2791A>G (p.Met931Val) c.2971A>G (p.Met991Val) c.2638A>G (p.Met880Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603755A>T | CA368987523 | CFTR | c.2881A>T (p.Met961Leu) c.*2595A>T (n.*2595A>T) c.2698A>T (p.Met900Leu) c.*1181A>T (n.*1181A>T) c.*2705A>T (n.*2705A>T) c.2455A>T (p.Met819Leu) c.472A>T (p.Met158Leu) c.531A>T c.1663A>T (p.Met555Leu) c.2791A>T (p.Met931Leu) c.2971A>T (p.Met991Leu) c.2638A>T (p.Met880Leu) | |
| 7 | g.117603756T>A | CA368987526 | CFTR | c.2882T>A (p.Met961Lys) c.*2596T>A (n.*2596T>A) c.2699T>A (p.Met900Lys) c.*1182T>A (n.*1182T>A) c.*2706T>A (n.*2706T>A) c.2456T>A (p.Met819Lys) c.473T>A (p.Met158Lys) c.532T>A c.1664T>A (p.Met555Lys) c.2792T>A (p.Met931Lys) c.2972T>A (p.Met991Lys) c.2639T>A (p.Met880Lys) | |
| 7 | g.117603756T>C | CA4451306 | CFTR | c.2882T>C (p.Met961Thr) c.*2596T>C (n.*2596T>C) c.2699T>C (p.Met900Thr) c.*1182T>C (n.*1182T>C) c.*2706T>C (n.*2706T>C) c.2456T>C (p.Met819Thr) c.473T>C (p.Met158Thr) c.532T>C c.1664T>C (p.Met555Thr) c.2792T>C (p.Met931Thr) c.2972T>C (p.Met991Thr) c.2639T>C (p.Met880Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603756T>G | CA368987531 | CFTR | c.2882T>G (p.Met961Arg) c.*2596T>G (n.*2596T>G) c.2699T>G (p.Met900Arg) c.*1182T>G (n.*1182T>G) c.*2706T>G (n.*2706T>G) c.2456T>G (p.Met819Arg) c.473T>G (p.Met158Arg) c.532T>G c.1664T>G (p.Met555Arg) c.2792T>G (p.Met931Arg) c.2972T>G (p.Met991Arg) c.2639T>G (p.Met880Arg) | |
| 7 | g.117603756T= | CA1737375502 | CFTR | c.2882T= (p.Met961=) c.*2596T= (n.*2596T=) c.2699T= (p.Met900=) c.*1182T= (n.*1182T=) c.*2706T= (n.*2706T=) c.2456T= (p.Met819=) c.473T= (p.Met158=) c.532T= c.1664T= (p.Met555=) c.2792T= (p.Met931=) c.2972T= (p.Met991=) c.2639T= (p.Met880=) | |
| 7 | g.117603757G>A | CA368987536 | CFTR | c.2883G>A (p.Met961Ile) c.*2597G>A (n.*2597G>A) c.2700G>A (p.Met900Ile) c.*1183G>A (n.*1183G>A) c.*2707G>A (n.*2707G>A) c.2457G>A (p.Met819Ile) c.474G>A (p.Met158Ile) c.533G>A c.1665G>A (p.Met555Ile) c.2793G>A (p.Met931Ile) c.2973G>A (p.Met991Ile) c.2640G>A (p.Met880Ile) | |
| 7 | g.117603757G>C | CA368987538 | CFTR | c.2883G>C (p.Met961Ile) c.*2597G>C (n.*2597G>C) c.2700G>C (p.Met900Ile) c.*1183G>C (n.*1183G>C) c.*2707G>C (n.*2707G>C) c.2457G>C (p.Met819Ile) c.474G>C (p.Met158Ile) c.533G>C c.1665G>C (p.Met555Ile) c.2793G>C (p.Met931Ile) c.2973G>C (p.Met991Ile) c.2640G>C (p.Met880Ile) | |
| 7 | g.117603757G= | CA1737375506 | CFTR | c.2883G= (p.Met961=) c.*2597G= (n.*2597G=) c.2700G= (p.Met900=) c.*1183G= (n.*1183G=) c.*2707G= (n.*2707G=) c.2457G= (p.Met819=) c.474G= (p.Met158=) c.533G= c.1665G= (p.Met555=) c.2793G= (p.Met931=) c.2973G= (p.Met991=) c.2640G= (p.Met880=) |