Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.10354167G>A | CA9192922 | TYK2 | c.*1132C>T (n.*1132C>T) c.2783C>T (p.Ala928Val) n.4159C>T n.3197C>T c.*2334C>T (n.*2334C>T) c.*825C>T (n.*825C>T) n.4242C>T n.885C>T c.*1888C>T (n.*1888C>T) c.2228C>T (p.Ala743Val) c.79C>T n.455C>T c.212C>T (p.Ala71Val) c.2486C>T (p.Ala829Val) c.1457C>T (p.Ala486Val) c.1040C>T (p.Ala347Val) n.2940C>T n.3866C>T c.2597C>T (p.Ala866Val) c.2780C>T (p.Ala927Val) c.2585C>T (p.Ala862Val) c.2699C>T (p.Ala900Val) c.2864C>T (p.Ala955Val) c.2993C>T (p.Ala998Val) c.2693C>T (p.Ala898Val) c.2657C>T (p.Ala886Val) c.2765C>T (p.Ala922Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10354167G>C | CA403988626 | TYK2 | c.*1132C>G (n.*1132C>G) c.2783C>G (p.Ala928Gly) n.4159C>G n.3197C>G c.*2334C>G (n.*2334C>G) c.*825C>G (n.*825C>G) n.4242C>G n.885C>G c.*1888C>G (n.*1888C>G) c.2228C>G (p.Ala743Gly) c.79C>G n.455C>G c.212C>G (p.Ala71Gly) c.2486C>G (p.Ala829Gly) c.1457C>G (p.Ala486Gly) c.1040C>G (p.Ala347Gly) n.2940C>G n.3866C>G c.2597C>G (p.Ala866Gly) c.2780C>G (p.Ala927Gly) c.2585C>G (p.Ala862Gly) c.2699C>G (p.Ala900Gly) c.2864C>G (p.Ala955Gly) c.2993C>G (p.Ala998Gly) c.2693C>G (p.Ala898Gly) c.2657C>G (p.Ala886Gly) c.2765C>G (p.Ala922Gly) | |
19 | g.10354167G= | CA2322388035 | TYK2 | c.*1132C= (n.*1132C=) c.2783C= (p.Ala928=) n.4159C= n.3197C= c.*2334C= (n.*2334C=) c.*825C= (n.*825C=) n.4242C= n.885C= c.*1888C= (n.*1888C=) c.2228C= (p.Ala743=) c.79C= n.455C= c.212C= (p.Ala71=) c.2486C= (p.Ala829=) c.1457C= (p.Ala486=) c.1040C= (p.Ala347=) n.2940C= n.3866C= c.2597C= (p.Ala866=) c.2780C= (p.Ala927=) c.2585C= (p.Ala862=) c.2699C= (p.Ala900=) c.2864C= (p.Ala955=) c.2993C= (p.Ala998=) c.2693C= (p.Ala898=) c.2657C= (p.Ala886=) c.2765C= (p.Ala922=) | |
19 | g.10354167G>T | CA403988633 | TYK2 | c.*1132C>A (n.*1132C>A) c.2783C>A (p.Ala928Glu) n.4159C>A n.3197C>A c.*2334C>A (n.*2334C>A) c.*825C>A (n.*825C>A) n.4242C>A n.885C>A c.*1888C>A (n.*1888C>A) c.2228C>A (p.Ala743Glu) c.79C>A n.455C>A c.212C>A (p.Ala71Glu) c.2486C>A (p.Ala829Glu) c.1457C>A (p.Ala486Glu) c.1040C>A (p.Ala347Glu) n.2940C>A n.3866C>A c.2597C>A (p.Ala866Glu) c.2780C>A (p.Ala927Glu) c.2585C>A (p.Ala862Glu) c.2699C>A (p.Ala900Glu) c.2864C>A (p.Ala955Glu) c.2993C>A (p.Ala998Glu) c.2693C>A (p.Ala898Glu) c.2657C>A (p.Ala886Glu) c.2765C>A (p.Ala922Glu) | |
19 | g.10354168C>A | CA403988636 | TYK2 | c.*1131G>T (n.*1131G>T) c.2782G>T (p.Ala928Ser) n.4158G>T n.3196G>T c.*2333G>T (n.*2333G>T) c.*824G>T (n.*824G>T) n.4241G>T n.884G>T c.*1887G>T (n.*1887G>T) c.2227G>T (p.Ala743Ser) c.78G>T n.454G>T c.211G>T (p.Ala71Ser) c.2485G>T (p.Ala829Ser) c.1456G>T (p.Ala486Ser) c.1039G>T (p.Ala347Ser) n.2939G>T n.3865G>T c.2596G>T (p.Ala866Ser) c.2779G>T (p.Ala927Ser) c.2584G>T (p.Ala862Ser) c.2698G>T (p.Ala900Ser) c.2863G>T (p.Ala955Ser) c.2992G>T (p.Ala998Ser) c.2692G>T (p.Ala898Ser) c.2656G>T (p.Ala886Ser) c.2764G>T (p.Ala922Ser) | |
19 | g.10354168C>G | CA403988638 | TYK2 | c.*1131G>C (n.*1131G>C) c.2782G>C (p.Ala928Pro) n.4158G>C n.3196G>C c.*2333G>C (n.*2333G>C) c.*824G>C (n.*824G>C) n.4241G>C n.884G>C c.*1887G>C (n.*1887G>C) c.2227G>C (p.Ala743Pro) c.78G>C n.454G>C c.211G>C (p.Ala71Pro) c.2485G>C (p.Ala829Pro) c.1456G>C (p.Ala486Pro) c.1039G>C (p.Ala347Pro) n.2939G>C n.3865G>C c.2596G>C (p.Ala866Pro) c.2779G>C (p.Ala927Pro) c.2584G>C (p.Ala862Pro) c.2698G>C (p.Ala900Pro) c.2863G>C (p.Ala955Pro) c.2992G>C (p.Ala998Pro) c.2692G>C (p.Ala898Pro) c.2656G>C (p.Ala886Pro) c.2764G>C (p.Ala922Pro) | |
19 | g.10354168C>T | CA403988646 | TYK2 | c.*1131G>A (n.*1131G>A) c.2782G>A (p.Ala928Thr) n.4158G>A n.3196G>A c.*2333G>A (n.*2333G>A) c.*824G>A (n.*824G>A) n.4241G>A n.884G>A c.*1887G>A (n.*1887G>A) c.2227G>A (p.Ala743Thr) c.78G>A n.454G>A c.211G>A (p.Ala71Thr) c.2485G>A (p.Ala829Thr) c.1456G>A (p.Ala486Thr) c.1039G>A (p.Ala347Thr) n.2939G>A n.3865G>A c.2596G>A (p.Ala866Thr) c.2779G>A (p.Ala927Thr) c.2584G>A (p.Ala862Thr) c.2698G>A (p.Ala900Thr) c.2863G>A (p.Ala955Thr) c.2992G>A (p.Ala998Thr) c.2692G>A (p.Ala898Thr) c.2656G>A (p.Ala886Thr) c.2764G>A (p.Ala922Thr) | |
19 | g.10354169C>A | CA505373990 | TYK2 | c.*1130G>T (n.*1130G>T) c.2781G>T (p.Val927=) n.4157G>T n.3195G>T c.*2332G>T (n.*2332G>T) c.*823G>T (n.*823G>T) n.4240G>T n.883G>T c.*1886G>T (n.*1886G>T) c.2226G>T (p.Val742=) c.77G>T n.453G>T c.210G>T (p.Val70=) c.2484G>T (p.Val828=) c.1455G>T (p.Val485=) c.1038G>T (p.Val346=) n.2938G>T n.3864G>T c.2595G>T (p.Val865=) c.2778G>T (p.Val926=) c.2583G>T (p.Val861=) c.2697G>T (p.Val899=) c.2862G>T (p.Val954=) c.2991G>T (p.Val997=) c.2691G>T (p.Val897=) c.2655G>T (p.Val885=) c.2763G>T (p.Val921=) | |
19 | g.10354169C>G | CA505373994 | TYK2 | c.*1130G>C (n.*1130G>C) c.2781G>C (p.Val927=) n.4157G>C n.3195G>C c.*2332G>C (n.*2332G>C) c.*823G>C (n.*823G>C) n.4240G>C n.883G>C c.*1886G>C (n.*1886G>C) c.2226G>C (p.Val742=) c.77G>C n.453G>C c.210G>C (p.Val70=) c.2484G>C (p.Val828=) c.1455G>C (p.Val485=) c.1038G>C (p.Val346=) n.2938G>C n.3864G>C c.2595G>C (p.Val865=) c.2778G>C (p.Val926=) c.2583G>C (p.Val861=) c.2697G>C (p.Val899=) c.2862G>C (p.Val954=) c.2991G>C (p.Val997=) c.2691G>C (p.Val897=) c.2655G>C (p.Val885=) c.2763G>C (p.Val921=) | |
19 | g.10354169C>T | CA505373992 | TYK2 | c.*1130G>A (n.*1130G>A) c.2781G>A (p.Val927=) n.4157G>A n.3195G>A c.*2332G>A (n.*2332G>A) c.*823G>A (n.*823G>A) n.4240G>A n.883G>A c.*1886G>A (n.*1886G>A) c.2226G>A (p.Val742=) c.77G>A n.453G>A c.210G>A (p.Val70=) c.2484G>A (p.Val828=) c.1455G>A (p.Val485=) c.1038G>A (p.Val346=) n.2938G>A n.3864G>A c.2595G>A (p.Val865=) c.2778G>A (p.Val926=) c.2583G>A (p.Val861=) c.2697G>A (p.Val899=) c.2862G>A (p.Val954=) c.2991G>A (p.Val997=) c.2691G>A (p.Val897=) c.2655G>A (p.Val885=) c.2763G>A (p.Val921=) | |
19 | g.10354170A>C | CA403988656 | TYK2 | c.*1129T>G (n.*1129T>G) c.2780T>G (p.Val927Gly) n.4156T>G n.3194T>G c.*2331T>G (n.*2331T>G) c.*822T>G (n.*822T>G) n.4239T>G n.882T>G c.*1885T>G (n.*1885T>G) c.2225T>G (p.Val742Gly) c.76T>G n.452T>G c.209T>G (p.Val70Gly) c.2483T>G (p.Val828Gly) c.1454T>G (p.Val485Gly) c.1037T>G (p.Val346Gly) n.2937T>G n.3863T>G c.2594T>G (p.Val865Gly) c.2777T>G (p.Val926Gly) c.2582T>G (p.Val861Gly) c.2696T>G (p.Val899Gly) c.2861T>G (p.Val954Gly) c.2990T>G (p.Val997Gly) c.2690T>G (p.Val897Gly) c.2654T>G (p.Val885Gly) c.2762T>G (p.Val921Gly) | |
19 | g.10354170A>G | CA403988650 | TYK2 | c.*1129T>C (n.*1129T>C) c.2780T>C (p.Val927Ala) n.4156T>C n.3194T>C c.*2331T>C (n.*2331T>C) c.*822T>C (n.*822T>C) n.4239T>C n.882T>C c.*1885T>C (n.*1885T>C) c.2225T>C (p.Val742Ala) c.76T>C n.452T>C c.209T>C (p.Val70Ala) c.2483T>C (p.Val828Ala) c.1454T>C (p.Val485Ala) c.1037T>C (p.Val346Ala) n.2937T>C n.3863T>C c.2594T>C (p.Val865Ala) c.2777T>C (p.Val926Ala) c.2582T>C (p.Val861Ala) c.2696T>C (p.Val899Ala) c.2861T>C (p.Val954Ala) c.2990T>C (p.Val997Ala) c.2690T>C (p.Val897Ala) c.2654T>C (p.Val885Ala) c.2762T>C (p.Val921Ala) | |
19 | g.10354170A>T | CA403988653 | TYK2 | c.*1129T>A (n.*1129T>A) c.2780T>A (p.Val927Glu) n.4156T>A n.3194T>A c.*2331T>A (n.*2331T>A) c.*822T>A (n.*822T>A) n.4239T>A n.882T>A c.*1885T>A (n.*1885T>A) c.2225T>A (p.Val742Glu) c.76T>A n.452T>A c.209T>A (p.Val70Glu) c.2483T>A (p.Val828Glu) c.1454T>A (p.Val485Glu) c.1037T>A (p.Val346Glu) n.2937T>A n.3863T>A c.2594T>A (p.Val865Glu) c.2777T>A (p.Val926Glu) c.2582T>A (p.Val861Glu) c.2696T>A (p.Val899Glu) c.2861T>A (p.Val954Glu) c.2990T>A (p.Val997Glu) c.2690T>A (p.Val897Glu) c.2654T>A (p.Val885Glu) c.2762T>A (p.Val921Glu) | |
19 | g.10354171C>A | CA403988662 | TYK2 | c.*1128G>T (n.*1128G>T) c.2779G>T (p.Val927Leu) n.4155G>T n.3193G>T c.*2330G>T (n.*2330G>T) c.*821G>T (n.*821G>T) n.4238G>T n.881G>T c.*1884G>T (n.*1884G>T) c.2224G>T (p.Val742Leu) c.75G>T n.451G>T c.208G>T (p.Val70Leu) c.2482G>T (p.Val828Leu) c.1453G>T (p.Val485Leu) c.1036G>T (p.Val346Leu) n.2936G>T n.3862G>T c.2593G>T (p.Val865Leu) c.2776G>T (p.Val926Leu) c.2581G>T (p.Val861Leu) c.2695G>T (p.Val899Leu) c.2860G>T (p.Val954Leu) c.2989G>T (p.Val997Leu) c.2689G>T (p.Val897Leu) c.2653G>T (p.Val885Leu) c.2761G>T (p.Val921Leu) | dbSNP |
19 | g.10354171C= | CA2322388036 | TYK2 | c.*1128G= (n.*1128G=) c.2779G= (p.Val927=) n.4155G= n.3193G= c.*2330G= (n.*2330G=) c.*821G= (n.*821G=) n.4238G= n.881G= c.*1884G= (n.*1884G=) c.2224G= (p.Val742=) c.75G= n.451G= c.208G= (p.Val70=) c.2482G= (p.Val828=) c.1453G= (p.Val485=) c.1036G= (p.Val346=) n.2936G= n.3862G= c.2593G= (p.Val865=) c.2776G= (p.Val926=) c.2581G= (p.Val861=) c.2695G= (p.Val899=) c.2860G= (p.Val954=) c.2989G= (p.Val997=) c.2689G= (p.Val897=) c.2653G= (p.Val885=) c.2761G= (p.Val921=) | |
19 | g.10354171C>G | CA403988666 | TYK2 | c.*1128G>C (n.*1128G>C) c.2779G>C (p.Val927Leu) n.4155G>C n.3193G>C c.*2330G>C (n.*2330G>C) c.*821G>C (n.*821G>C) n.4238G>C n.881G>C c.*1884G>C (n.*1884G>C) c.2224G>C (p.Val742Leu) c.75G>C n.451G>C c.208G>C (p.Val70Leu) c.2482G>C (p.Val828Leu) c.1453G>C (p.Val485Leu) c.1036G>C (p.Val346Leu) n.2936G>C n.3862G>C c.2593G>C (p.Val865Leu) c.2776G>C (p.Val926Leu) c.2581G>C (p.Val861Leu) c.2695G>C (p.Val899Leu) c.2860G>C (p.Val954Leu) c.2989G>C (p.Val997Leu) c.2689G>C (p.Val897Leu) c.2653G>C (p.Val885Leu) c.2761G>C (p.Val921Leu) | |
19 | g.10354171C>T | CA403988671 | TYK2 | c.*1128G>A (n.*1128G>A) c.2779G>A (p.Val927Met) n.4155G>A n.3193G>A c.*2330G>A (n.*2330G>A) c.*821G>A (n.*821G>A) n.4238G>A n.881G>A c.*1884G>A (n.*1884G>A) c.2224G>A (p.Val742Met) c.75G>A n.451G>A c.208G>A (p.Val70Met) c.2482G>A (p.Val828Met) c.1453G>A (p.Val485Met) c.1036G>A (p.Val346Met) n.2936G>A n.3862G>A c.2593G>A (p.Val865Met) c.2776G>A (p.Val926Met) c.2581G>A (p.Val861Met) c.2695G>A (p.Val899Met) c.2860G>A (p.Val954Met) c.2989G>A (p.Val997Met) c.2689G>A (p.Val897Met) c.2653G>A (p.Val885Met) c.2761G>A (p.Val921Met) | |
19 | g.10354172C>A | CA305194741 | TYK2 | c.*1127G>T (n.*1127G>T) c.2778G>T (p.Met926Ile) n.4154G>T n.3192G>T c.*2329G>T (n.*2329G>T) c.*820G>T (n.*820G>T) n.4237G>T n.880G>T c.*1883G>T (n.*1883G>T) c.2223G>T (p.Met741Ile) c.74G>T n.450G>T c.207G>T (p.Met69Ile) c.2481G>T (p.Met827Ile) c.1452G>T (p.Met484Ile) c.1035G>T (p.Met345Ile) n.2935G>T n.3861G>T c.2592G>T (p.Met864Ile) c.2775G>T (p.Met925Ile) c.2580G>T (p.Met860Ile) c.2694G>T (p.Met898Ile) c.2859G>T (p.Met953Ile) c.2988G>T (p.Met996Ile) c.2688G>T (p.Met896Ile) c.2652G>T (p.Met884Ile) c.2760G>T (p.Met920Ile) | dbSNP |
19 | g.10354172C= | CA2322388037 | TYK2 | c.*1127G= (n.*1127G=) c.2778G= (p.Met926=) n.4154G= n.3192G= c.*2329G= (n.*2329G=) c.*820G= (n.*820G=) n.4237G= n.880G= c.*1883G= (n.*1883G=) c.2223G= (p.Met741=) c.74G= n.450G= c.207G= (p.Met69=) c.2481G= (p.Met827=) c.1452G= (p.Met484=) c.1035G= (p.Met345=) n.2935G= n.3861G= c.2592G= (p.Met864=) c.2775G= (p.Met925=) c.2580G= (p.Met860=) c.2694G= (p.Met898=) c.2859G= (p.Met953=) c.2988G= (p.Met996=) c.2688G= (p.Met896=) c.2652G= (p.Met884=) c.2760G= (p.Met920=) | |
19 | g.10354172C>G | CA403988681 | TYK2 | c.*1127G>C (n.*1127G>C) c.2778G>C (p.Met926Ile) n.4154G>C n.3192G>C c.*2329G>C (n.*2329G>C) c.*820G>C (n.*820G>C) n.4237G>C n.880G>C c.*1883G>C (n.*1883G>C) c.2223G>C (p.Met741Ile) c.74G>C n.450G>C c.207G>C (p.Met69Ile) c.2481G>C (p.Met827Ile) c.1452G>C (p.Met484Ile) c.1035G>C (p.Met345Ile) n.2935G>C n.3861G>C c.2592G>C (p.Met864Ile) c.2775G>C (p.Met925Ile) c.2580G>C (p.Met860Ile) c.2694G>C (p.Met898Ile) c.2859G>C (p.Met953Ile) c.2988G>C (p.Met996Ile) c.2688G>C (p.Met896Ile) c.2652G>C (p.Met884Ile) c.2760G>C (p.Met920Ile) | |
19 | g.10354172C>T | CA403988689 | TYK2 | c.*1127G>A (n.*1127G>A) c.2778G>A (p.Met926Ile) n.4154G>A n.3192G>A c.*2329G>A (n.*2329G>A) c.*820G>A (n.*820G>A) n.4237G>A n.880G>A c.*1883G>A (n.*1883G>A) c.2223G>A (p.Met741Ile) c.74G>A n.450G>A c.207G>A (p.Met69Ile) c.2481G>A (p.Met827Ile) c.1452G>A (p.Met484Ile) c.1035G>A (p.Met345Ile) n.2935G>A n.3861G>A c.2592G>A (p.Met864Ile) c.2775G>A (p.Met925Ile) c.2580G>A (p.Met860Ile) c.2694G>A (p.Met898Ile) c.2859G>A (p.Met953Ile) c.2988G>A (p.Met996Ile) c.2688G>A (p.Met896Ile) c.2652G>A (p.Met884Ile) c.2760G>A (p.Met920Ile) | ClinVar dbSNP |
19 | g.10354173A>C | CA403988693 | TYK2 | c.*1126T>G (n.*1126T>G) c.2777T>G (p.Met926Arg) n.4153T>G n.3191T>G c.*2328T>G (n.*2328T>G) c.*819T>G (n.*819T>G) n.4236T>G n.879T>G c.*1882T>G (n.*1882T>G) c.2222T>G (p.Met741Arg) c.73T>G n.449T>G c.206T>G (p.Met69Arg) c.2480T>G (p.Met827Arg) c.1451T>G (p.Met484Arg) c.1034T>G (p.Met345Arg) n.2934T>G n.3860T>G c.2591T>G (p.Met864Arg) c.2774T>G (p.Met925Arg) c.2579T>G (p.Met860Arg) c.2693T>G (p.Met898Arg) c.2858T>G (p.Met953Arg) c.2987T>G (p.Met996Arg) c.2687T>G (p.Met896Arg) c.2651T>G (p.Met884Arg) c.2759T>G (p.Met920Arg) | |
19 | g.10354173A>G | CA403988707 | TYK2 | c.*1126T>C (n.*1126T>C) c.2777T>C (p.Met926Thr) n.4153T>C n.3191T>C c.*2328T>C (n.*2328T>C) c.*819T>C (n.*819T>C) n.4236T>C n.879T>C c.*1882T>C (n.*1882T>C) c.2222T>C (p.Met741Thr) c.73T>C n.449T>C c.206T>C (p.Met69Thr) c.2480T>C (p.Met827Thr) c.1451T>C (p.Met484Thr) c.1034T>C (p.Met345Thr) n.2934T>C n.3860T>C c.2591T>C (p.Met864Thr) c.2774T>C (p.Met925Thr) c.2579T>C (p.Met860Thr) c.2693T>C (p.Met898Thr) c.2858T>C (p.Met953Thr) c.2987T>C (p.Met996Thr) c.2687T>C (p.Met896Thr) c.2651T>C (p.Met884Thr) c.2759T>C (p.Met920Thr) | |
19 | g.10354173A>T | CA403988711 | TYK2 | c.*1126T>A (n.*1126T>A) c.2777T>A (p.Met926Lys) n.4153T>A n.3191T>A c.*2328T>A (n.*2328T>A) c.*819T>A (n.*819T>A) n.4236T>A n.879T>A c.*1882T>A (n.*1882T>A) c.2222T>A (p.Met741Lys) c.73T>A n.449T>A c.206T>A (p.Met69Lys) c.2480T>A (p.Met827Lys) c.1451T>A (p.Met484Lys) c.1034T>A (p.Met345Lys) n.2934T>A n.3860T>A c.2591T>A (p.Met864Lys) c.2774T>A (p.Met925Lys) c.2579T>A (p.Met860Lys) c.2693T>A (p.Met898Lys) c.2858T>A (p.Met953Lys) c.2987T>A (p.Met996Lys) c.2687T>A (p.Met896Lys) c.2651T>A (p.Met884Lys) c.2759T>A (p.Met920Lys) | |
19 | g.10354174T>A | CA403988718 | TYK2 | c.*1125A>T (n.*1125A>T) c.2776A>T (p.Met926Leu) n.4152A>T n.3190A>T c.*2327A>T (n.*2327A>T) c.*818A>T (n.*818A>T) n.4235A>T n.878A>T c.*1881A>T (n.*1881A>T) c.2221A>T (p.Met741Leu) c.72A>T n.448A>T c.205A>T (p.Met69Leu) c.2479A>T (p.Met827Leu) c.1450A>T (p.Met484Leu) c.1033A>T (p.Met345Leu) n.2933A>T n.3859A>T c.2590A>T (p.Met864Leu) c.2773A>T (p.Met925Leu) c.2578A>T (p.Met860Leu) c.2692A>T (p.Met898Leu) c.2857A>T (p.Met953Leu) c.2986A>T (p.Met996Leu) c.2686A>T (p.Met896Leu) c.2650A>T (p.Met884Leu) c.2758A>T (p.Met920Leu) | |
19 | g.10354174T>C | CA403988721 | TYK2 | c.*1125A>G (n.*1125A>G) c.2776A>G (p.Met926Val) n.4152A>G n.3190A>G c.*2327A>G (n.*2327A>G) c.*818A>G (n.*818A>G) n.4235A>G n.878A>G c.*1881A>G (n.*1881A>G) c.2221A>G (p.Met741Val) c.72A>G n.448A>G c.205A>G (p.Met69Val) c.2479A>G (p.Met827Val) c.1450A>G (p.Met484Val) c.1033A>G (p.Met345Val) n.2933A>G n.3859A>G c.2590A>G (p.Met864Val) c.2773A>G (p.Met925Val) c.2578A>G (p.Met860Val) c.2692A>G (p.Met898Val) c.2857A>G (p.Met953Val) c.2986A>G (p.Met996Val) c.2686A>G (p.Met896Val) c.2650A>G (p.Met884Val) c.2758A>G (p.Met920Val) | gnomAD v4 |
19 | g.10354174T>G | CA403988726 | TYK2 | c.*1125A>C (n.*1125A>C) c.2776A>C (p.Met926Leu) n.4152A>C n.3190A>C c.*2327A>C (n.*2327A>C) c.*818A>C (n.*818A>C) n.4235A>C n.878A>C c.*1881A>C (n.*1881A>C) c.2221A>C (p.Met741Leu) c.72A>C n.448A>C c.205A>C (p.Met69Leu) c.2479A>C (p.Met827Leu) c.1450A>C (p.Met484Leu) c.1033A>C (p.Met345Leu) n.2933A>C n.3859A>C c.2590A>C (p.Met864Leu) c.2773A>C (p.Met925Leu) c.2578A>C (p.Met860Leu) c.2692A>C (p.Met898Leu) c.2857A>C (p.Met953Leu) c.2986A>C (p.Met996Leu) c.2686A>C (p.Met896Leu) c.2650A>C (p.Met884Leu) c.2758A>C (p.Met920Leu) | |
19 | g.10354175C>A | CA403988733 | TYK2 | c.*1124G>T (n.*1124G>T) c.2775G>T (p.Glu925Asp) n.4151G>T n.3189G>T c.*2326G>T (n.*2326G>T) c.*817G>T (n.*817G>T) n.4234G>T n.877G>T c.*1880G>T (n.*1880G>T) c.2220G>T (p.Glu740Asp) c.71G>T n.447G>T c.204G>T (p.Glu68Asp) c.2478G>T (p.Glu826Asp) c.1449G>T (p.Glu483Asp) c.1032G>T (p.Glu344Asp) n.2932G>T n.3858G>T c.2589G>T (p.Glu863Asp) c.2772G>T (p.Glu924Asp) c.2577G>T (p.Glu859Asp) c.2691G>T (p.Glu897Asp) c.2856G>T (p.Glu952Asp) c.2985G>T (p.Glu995Asp) c.2685G>T (p.Glu895Asp) c.2649G>T (p.Glu883Asp) c.2757G>T (p.Glu919Asp) | gnomAD v4 |
19 | g.10354175C>G | CA403988729 | TYK2 | c.*1124G>C (n.*1124G>C) c.2775G>C (p.Glu925Asp) n.4151G>C n.3189G>C c.*2326G>C (n.*2326G>C) c.*817G>C (n.*817G>C) n.4234G>C n.877G>C c.*1880G>C (n.*1880G>C) c.2220G>C (p.Glu740Asp) c.71G>C n.447G>C c.204G>C (p.Glu68Asp) c.2478G>C (p.Glu826Asp) c.1449G>C (p.Glu483Asp) c.1032G>C (p.Glu344Asp) n.2932G>C n.3858G>C c.2589G>C (p.Glu863Asp) c.2772G>C (p.Glu924Asp) c.2577G>C (p.Glu859Asp) c.2691G>C (p.Glu897Asp) c.2856G>C (p.Glu952Asp) c.2985G>C (p.Glu995Asp) c.2685G>C (p.Glu895Asp) c.2649G>C (p.Glu883Asp) c.2757G>C (p.Glu919Asp) | |
19 | g.10354175C>T | CA505374018 | TYK2 | c.*1124G>A (n.*1124G>A) c.2775G>A (p.Glu925=) n.4151G>A n.3189G>A c.*2326G>A (n.*2326G>A) c.*817G>A (n.*817G>A) n.4234G>A n.877G>A c.*1880G>A (n.*1880G>A) c.2220G>A (p.Glu740=) c.71G>A n.447G>A c.204G>A (p.Glu68=) c.2478G>A (p.Glu826=) c.1449G>A (p.Glu483=) c.1032G>A (p.Glu344=) n.2932G>A n.3858G>A c.2589G>A (p.Glu863=) c.2772G>A (p.Glu924=) c.2577G>A (p.Glu859=) c.2691G>A (p.Glu897=) c.2856G>A (p.Glu952=) c.2985G>A (p.Glu995=) c.2685G>A (p.Glu895=) c.2649G>A (p.Glu883=) c.2757G>A (p.Glu919=) | |
19 | g.10354176T>A | CA403988738 | TYK2 | c.*1123A>T (n.*1123A>T) c.2774A>T (p.Glu925Val) n.4150A>T n.3188A>T c.*2325A>T (n.*2325A>T) c.*816A>T (n.*816A>T) n.4233A>T n.876A>T c.*1879A>T (n.*1879A>T) c.2219A>T (p.Glu740Val) c.70A>T n.446A>T c.203A>T (p.Glu68Val) c.2477A>T (p.Glu826Val) c.1448A>T (p.Glu483Val) c.1031A>T (p.Glu344Val) n.2931A>T n.3857A>T c.2588A>T (p.Glu863Val) c.2771A>T (p.Glu924Val) c.2576A>T (p.Glu859Val) c.2690A>T (p.Glu897Val) c.2855A>T (p.Glu952Val) c.2984A>T (p.Glu995Val) c.2684A>T (p.Glu895Val) c.2648A>T (p.Glu883Val) c.2756A>T (p.Glu919Val) | |
19 | g.10354176T>C | CA403988742 | TYK2 | c.*1123A>G (n.*1123A>G) c.2774A>G (p.Glu925Gly) n.4150A>G n.3188A>G c.*2325A>G (n.*2325A>G) c.*816A>G (n.*816A>G) n.4233A>G n.876A>G c.*1879A>G (n.*1879A>G) c.2219A>G (p.Glu740Gly) c.70A>G n.446A>G c.203A>G (p.Glu68Gly) c.2477A>G (p.Glu826Gly) c.1448A>G (p.Glu483Gly) c.1031A>G (p.Glu344Gly) n.2931A>G n.3857A>G c.2588A>G (p.Glu863Gly) c.2771A>G (p.Glu924Gly) c.2576A>G (p.Glu859Gly) c.2690A>G (p.Glu897Gly) c.2855A>G (p.Glu952Gly) c.2984A>G (p.Glu995Gly) c.2684A>G (p.Glu895Gly) c.2648A>G (p.Glu883Gly) c.2756A>G (p.Glu919Gly) | |
19 | g.10354176T>G | CA403988745 | TYK2 | c.*1123A>C (n.*1123A>C) c.2774A>C (p.Glu925Ala) n.4150A>C n.3188A>C c.*2325A>C (n.*2325A>C) c.*816A>C (n.*816A>C) n.4233A>C n.876A>C c.*1879A>C (n.*1879A>C) c.2219A>C (p.Glu740Ala) c.70A>C n.446A>C c.203A>C (p.Glu68Ala) c.2477A>C (p.Glu826Ala) c.1448A>C (p.Glu483Ala) c.1031A>C (p.Glu344Ala) n.2931A>C n.3857A>C c.2588A>C (p.Glu863Ala) c.2771A>C (p.Glu924Ala) c.2576A>C (p.Glu859Ala) c.2690A>C (p.Glu897Ala) c.2855A>C (p.Glu952Ala) c.2984A>C (p.Glu995Ala) c.2684A>C (p.Glu895Ala) c.2648A>C (p.Glu883Ala) c.2756A>C (p.Glu919Ala) | |
19 | g.10354177C>A | CA403988750 | TYK2 | c.*1122G>T (n.*1122G>T) c.2773G>T (p.Glu925Ter) n.4149G>T n.3187G>T c.*2324G>T (n.*2324G>T) c.*815G>T (n.*815G>T) n.4232G>T n.875G>T c.*1878G>T (n.*1878G>T) c.2218G>T (p.Glu740Ter) c.69G>T n.445G>T c.202G>T (p.Glu68Ter) c.2476G>T (p.Glu826Ter) c.1447G>T (p.Glu483Ter) c.1030G>T (p.Glu344Ter) n.2930G>T n.3856G>T c.2587G>T (p.Glu863Ter) c.2770G>T (p.Glu924Ter) c.2575G>T (p.Glu859Ter) c.2689G>T (p.Glu897Ter) c.2854G>T (p.Glu952Ter) c.2983G>T (p.Glu995Ter) c.2683G>T (p.Glu895Ter) c.2647G>T (p.Glu883Ter) c.2755G>T (p.Glu919Ter) | |
19 | g.10354177C= | CA2322388038 | TYK2 | c.*1122G= (n.*1122G=) c.2773G= (p.Glu925=) n.4149G= n.3187G= c.*2324G= (n.*2324G=) c.*815G= (n.*815G=) n.4232G= n.875G= c.*1878G= (n.*1878G=) c.2218G= (p.Glu740=) c.69G= n.445G= c.202G= (p.Glu68=) c.2476G= (p.Glu826=) c.1447G= (p.Glu483=) c.1030G= (p.Glu344=) n.2930G= n.3856G= c.2587G= (p.Glu863=) c.2770G= (p.Glu924=) c.2575G= (p.Glu859=) c.2689G= (p.Glu897=) c.2854G= (p.Glu952=) c.2983G= (p.Glu995=) c.2683G= (p.Glu895=) c.2647G= (p.Glu883=) c.2755G= (p.Glu919=) | |
19 | g.10354177C>G | CA403988754 | TYK2 | c.*1122G>C (n.*1122G>C) c.2773G>C (p.Glu925Gln) n.4149G>C n.3187G>C c.*2324G>C (n.*2324G>C) c.*815G>C (n.*815G>C) n.4232G>C n.875G>C c.*1878G>C (n.*1878G>C) c.2218G>C (p.Glu740Gln) c.69G>C n.445G>C c.202G>C (p.Glu68Gln) c.2476G>C (p.Glu826Gln) c.1447G>C (p.Glu483Gln) c.1030G>C (p.Glu344Gln) n.2930G>C n.3856G>C c.2587G>C (p.Glu863Gln) c.2770G>C (p.Glu924Gln) c.2575G>C (p.Glu859Gln) c.2689G>C (p.Glu897Gln) c.2854G>C (p.Glu952Gln) c.2983G>C (p.Glu995Gln) c.2683G>C (p.Glu895Gln) c.2647G>C (p.Glu883Gln) c.2755G>C (p.Glu919Gln) | |
19 | g.10354177C>T | CA403988755 | TYK2 | c.*1122G>A (n.*1122G>A) c.2773G>A (p.Glu925Lys) n.4149G>A n.3187G>A c.*2324G>A (n.*2324G>A) c.*815G>A (n.*815G>A) n.4232G>A n.875G>A c.*1878G>A (n.*1878G>A) c.2218G>A (p.Glu740Lys) c.69G>A n.445G>A c.202G>A (p.Glu68Lys) c.2476G>A (p.Glu826Lys) c.1447G>A (p.Glu483Lys) c.1030G>A (p.Glu344Lys) n.2930G>A n.3856G>A c.2587G>A (p.Glu863Lys) c.2770G>A (p.Glu924Lys) c.2575G>A (p.Glu859Lys) c.2689G>A (p.Glu897Lys) c.2854G>A (p.Glu952Lys) c.2983G>A (p.Glu995Lys) c.2683G>A (p.Glu895Lys) c.2647G>A (p.Glu883Lys) c.2755G>A (p.Glu919Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.10354178G>A | CA505374033 | TYK2 | c.*1121C>T (n.*1121C>T) c.2772C>T (p.Gly924=) n.4148C>T n.3186C>T c.*2323C>T (n.*2323C>T) c.*814C>T (n.*814C>T) n.4231C>T n.874C>T c.*1877C>T (n.*1877C>T) c.2217C>T (p.Gly739=) c.68C>T n.444C>T c.201C>T (p.Gly67=) c.2475C>T (p.Gly825=) c.1446C>T (p.Gly482=) c.1029C>T (p.Gly343=) n.2929C>T n.3855C>T c.2586C>T (p.Gly862=) c.2769C>T (p.Gly923=) c.2574C>T (p.Gly858=) c.2688C>T (p.Gly896=) c.2853C>T (p.Gly951=) c.2982C>T (p.Gly994=) c.2682C>T (p.Gly894=) c.2646C>T (p.Gly882=) c.2754C>T (p.Gly918=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10354178G>C | CA505374037 | TYK2 | c.*1121C>G (n.*1121C>G) c.2772C>G (p.Gly924=) n.4148C>G n.3186C>G c.*2323C>G (n.*2323C>G) c.*814C>G (n.*814C>G) n.4231C>G n.874C>G c.*1877C>G (n.*1877C>G) c.2217C>G (p.Gly739=) c.68C>G n.444C>G c.201C>G (p.Gly67=) c.2475C>G (p.Gly825=) c.1446C>G (p.Gly482=) c.1029C>G (p.Gly343=) n.2929C>G n.3855C>G c.2586C>G (p.Gly862=) c.2769C>G (p.Gly923=) c.2574C>G (p.Gly858=) c.2688C>G (p.Gly896=) c.2853C>G (p.Gly951=) c.2982C>G (p.Gly994=) c.2682C>G (p.Gly894=) c.2646C>G (p.Gly882=) c.2754C>G (p.Gly918=) | |
19 | g.10354178G= | CA2322388039 | TYK2 | c.*1121C= (n.*1121C=) c.2772C= (p.Gly924=) n.4148C= n.3186C= c.*2323C= (n.*2323C=) c.*814C= (n.*814C=) n.4231C= n.874C= c.*1877C= (n.*1877C=) c.2217C= (p.Gly739=) c.68C= n.444C= c.201C= (p.Gly67=) c.2475C= (p.Gly825=) c.1446C= (p.Gly482=) c.1029C= (p.Gly343=) n.2929C= n.3855C= c.2586C= (p.Gly862=) c.2769C= (p.Gly923=) c.2574C= (p.Gly858=) c.2688C= (p.Gly896=) c.2853C= (p.Gly951=) c.2982C= (p.Gly994=) c.2682C= (p.Gly894=) c.2646C= (p.Gly882=) c.2754C= (p.Gly918=) | |
19 | g.10354178G>T | CA505374042 | TYK2 | c.*1121C>A (n.*1121C>A) c.2772C>A (p.Gly924=) n.4148C>A n.3186C>A c.*2323C>A (n.*2323C>A) c.*814C>A (n.*814C>A) n.4231C>A n.874C>A c.*1877C>A (n.*1877C>A) c.2217C>A (p.Gly739=) c.68C>A n.444C>A c.201C>A (p.Gly67=) c.2475C>A (p.Gly825=) c.1446C>A (p.Gly482=) c.1029C>A (p.Gly343=) n.2929C>A n.3855C>A c.2586C>A (p.Gly862=) c.2769C>A (p.Gly923=) c.2574C>A (p.Gly858=) c.2688C>A (p.Gly896=) c.2853C>A (p.Gly951=) c.2982C>A (p.Gly994=) c.2682C>A (p.Gly894=) c.2646C>A (p.Gly882=) c.2754C>A (p.Gly918=) | gnomAD v4 |
19 | g.10354179C>A | CA403988766 | TYK2 | c.*1120G>T (n.*1120G>T) c.2771G>T (p.Gly924Val) n.4147G>T n.3185G>T c.*2322G>T (n.*2322G>T) c.*813G>T (n.*813G>T) n.4230G>T n.873G>T c.*1876G>T (n.*1876G>T) c.2216G>T (p.Gly739Val) c.67G>T n.443G>T c.200G>T (p.Gly67Val) c.2474G>T (p.Gly825Val) c.1445G>T (p.Gly482Val) c.1028G>T (p.Gly343Val) n.2928G>T n.3854G>T c.2585G>T (p.Gly862Val) c.2768G>T (p.Gly923Val) c.2573G>T (p.Gly858Val) c.2687G>T (p.Gly896Val) c.2852G>T (p.Gly951Val) c.2981G>T (p.Gly994Val) c.2681G>T (p.Gly894Val) c.2645G>T (p.Gly882Val) c.2753G>T (p.Gly918Val) | |
19 | g.10354179C>G | CA403988759 | TYK2 | c.*1120G>C (n.*1120G>C) c.2771G>C (p.Gly924Ala) n.4147G>C n.3185G>C c.*2322G>C (n.*2322G>C) c.*813G>C (n.*813G>C) n.4230G>C n.873G>C c.*1876G>C (n.*1876G>C) c.2216G>C (p.Gly739Ala) c.67G>C n.443G>C c.200G>C (p.Gly67Ala) c.2474G>C (p.Gly825Ala) c.1445G>C (p.Gly482Ala) c.1028G>C (p.Gly343Ala) n.2928G>C n.3854G>C c.2585G>C (p.Gly862Ala) c.2768G>C (p.Gly923Ala) c.2573G>C (p.Gly858Ala) c.2687G>C (p.Gly896Ala) c.2852G>C (p.Gly951Ala) c.2981G>C (p.Gly994Ala) c.2681G>C (p.Gly894Ala) c.2645G>C (p.Gly882Ala) c.2753G>C (p.Gly918Ala) | |
19 | g.10354179C>T | CA403988756 | TYK2 | c.*1120G>A (n.*1120G>A) c.2771G>A (p.Gly924Asp) n.4147G>A n.3185G>A c.*2322G>A (n.*2322G>A) c.*813G>A (n.*813G>A) n.4230G>A n.873G>A c.*1876G>A (n.*1876G>A) c.2216G>A (p.Gly739Asp) c.67G>A n.443G>A c.200G>A (p.Gly67Asp) c.2474G>A (p.Gly825Asp) c.1445G>A (p.Gly482Asp) c.1028G>A (p.Gly343Asp) n.2928G>A n.3854G>A c.2585G>A (p.Gly862Asp) c.2768G>A (p.Gly923Asp) c.2573G>A (p.Gly858Asp) c.2687G>A (p.Gly896Asp) c.2852G>A (p.Gly951Asp) c.2981G>A (p.Gly994Asp) c.2681G>A (p.Gly894Asp) c.2645G>A (p.Gly882Asp) c.2753G>A (p.Gly918Asp) | gnomAD v4 |
19 | g.10354180C>A | CA403988775 | TYK2 | c.*1119G>T (n.*1119G>T) c.2770G>T (p.Gly924Cys) n.4146G>T n.3184G>T c.*2321G>T (n.*2321G>T) c.*812G>T (n.*812G>T) n.4229G>T n.872G>T c.*1875G>T (n.*1875G>T) c.2215G>T (p.Gly739Cys) c.66G>T n.442G>T c.199G>T (p.Gly67Cys) c.2473G>T (p.Gly825Cys) c.1444G>T (p.Gly482Cys) c.1027G>T (p.Gly343Cys) n.2927G>T n.3853G>T c.2584G>T (p.Gly862Cys) c.2767G>T (p.Gly923Cys) c.2572G>T (p.Gly858Cys) c.2686G>T (p.Gly896Cys) c.2851G>T (p.Gly951Cys) c.2980G>T (p.Gly994Cys) c.2680G>T (p.Gly894Cys) c.2644G>T (p.Gly882Cys) c.2752G>T (p.Gly918Cys) | |
19 | g.10354180C>G | CA403988778 | TYK2 | c.*1119G>C (n.*1119G>C) c.2770G>C (p.Gly924Arg) n.4146G>C n.3184G>C c.*2321G>C (n.*2321G>C) c.*812G>C (n.*812G>C) n.4229G>C n.872G>C c.*1875G>C (n.*1875G>C) c.2215G>C (p.Gly739Arg) c.66G>C n.442G>C c.199G>C (p.Gly67Arg) c.2473G>C (p.Gly825Arg) c.1444G>C (p.Gly482Arg) c.1027G>C (p.Gly343Arg) n.2927G>C n.3853G>C c.2584G>C (p.Gly862Arg) c.2767G>C (p.Gly923Arg) c.2572G>C (p.Gly858Arg) c.2686G>C (p.Gly896Arg) c.2851G>C (p.Gly951Arg) c.2980G>C (p.Gly994Arg) c.2680G>C (p.Gly894Arg) c.2644G>C (p.Gly882Arg) c.2752G>C (p.Gly918Arg) | |
19 | g.10354180C>T | CA403988782 | TYK2 | c.*1119G>A (n.*1119G>A) c.2770G>A (p.Gly924Ser) n.4146G>A n.3184G>A c.*2321G>A (n.*2321G>A) c.*812G>A (n.*812G>A) n.4229G>A n.872G>A c.*1875G>A (n.*1875G>A) c.2215G>A (p.Gly739Ser) c.66G>A n.442G>A c.199G>A (p.Gly67Ser) c.2473G>A (p.Gly825Ser) c.1444G>A (p.Gly482Ser) c.1027G>A (p.Gly343Ser) n.2927G>A n.3853G>A c.2584G>A (p.Gly862Ser) c.2767G>A (p.Gly923Ser) c.2572G>A (p.Gly858Ser) c.2686G>A (p.Gly896Ser) c.2851G>A (p.Gly951Ser) c.2980G>A (p.Gly994Ser) c.2680G>A (p.Gly894Ser) c.2644G>A (p.Gly882Ser) c.2752G>A (p.Gly918Ser) | |
19 | g.10354181A= | CA2322388040 | TYK2 | c.*1118T= (n.*1118T=) c.2769T= (p.Thr923=) n.4145T= n.3183T= c.*2320T= (n.*2320T=) c.*811T= (n.*811T=) n.4228T= n.871T= c.*1874T= (n.*1874T=) c.2214T= (p.Thr738=) c.65T= n.441T= c.198T= (p.Thr66=) c.2472T= (p.Thr824=) c.1443T= (p.Thr481=) c.1026T= (p.Thr342=) n.2926T= n.3852T= c.2583T= (p.Thr861=) c.2766T= (p.Thr922=) c.2571T= (p.Thr857=) c.2685T= (p.Thr895=) c.2850T= (p.Thr950=) c.2979T= (p.Thr993=) c.2679T= (p.Thr893=) c.2643T= (p.Thr881=) c.2751T= (p.Thr917=) | |
19 | g.10354181A>C | CA505374057 | TYK2 | c.*1118T>G (n.*1118T>G) c.2769T>G (p.Thr923=) n.4145T>G n.3183T>G c.*2320T>G (n.*2320T>G) c.*811T>G (n.*811T>G) n.4228T>G n.871T>G c.*1874T>G (n.*1874T>G) c.2214T>G (p.Thr738=) c.65T>G n.441T>G c.198T>G (p.Thr66=) c.2472T>G (p.Thr824=) c.1443T>G (p.Thr481=) c.1026T>G (p.Thr342=) n.2926T>G n.3852T>G c.2583T>G (p.Thr861=) c.2766T>G (p.Thr922=) c.2571T>G (p.Thr857=) c.2685T>G (p.Thr895=) c.2850T>G (p.Thr950=) c.2979T>G (p.Thr993=) c.2679T>G (p.Thr893=) c.2643T>G (p.Thr881=) c.2751T>G (p.Thr917=) | |
19 | g.10354181A>G | CA505374058 | TYK2 | c.*1118T>C (n.*1118T>C) c.2769T>C (p.Thr923=) n.4145T>C n.3183T>C c.*2320T>C (n.*2320T>C) c.*811T>C (n.*811T>C) n.4228T>C n.871T>C c.*1874T>C (n.*1874T>C) c.2214T>C (p.Thr738=) c.65T>C n.441T>C c.198T>C (p.Thr66=) c.2472T>C (p.Thr824=) c.1443T>C (p.Thr481=) c.1026T>C (p.Thr342=) n.2926T>C n.3852T>C c.2583T>C (p.Thr861=) c.2766T>C (p.Thr922=) c.2571T>C (p.Thr857=) c.2685T>C (p.Thr895=) c.2850T>C (p.Thr950=) c.2979T>C (p.Thr993=) c.2679T>C (p.Thr893=) c.2643T>C (p.Thr881=) c.2751T>C (p.Thr917=) | gnomAD v4 |