Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.50495964_50495990dup | CA2658984970 | NRXN1 | c.2986_3012dup (p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLys) n.962_988dup n.1885_1911dup n.153_179dup c.2140_2166dup (p.Lys722_Ile723insAspThrSerAsnLeuHisThrValLys) c.2131_2157dup (p.Lys719_Ile720insAspThrSerAsnLeuHisThrValLys) c.3106_3132dup (p.Lys1044_Ile1045insAspThrSerAsnLeuHisThrValLys) c.2950_2976dup (p.Lys992_Ile993insAspThrSerAsnLeuHisThrValLys) c.2176_2202dup (p.Lys734_Ile735insAspThrSerAsnLeuHisThrValLys) c.88_114dup (p.Lys38_Ile39insAspThrSerAsnLeuHisThrValLys) c.2962_2988dup (p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys) c.3007_3033dup (p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLys) c.3004_3030dup (p.Lys1010_Ile1011insAspThrSerAsnLeuHisThrValLys) c.2995_3021dup (p.Lys1007_Ile1008insAspThrSerAsnLeuHisThrValLys) c.2989_3015dup (p.Lys1005_Ile1006insAspThrSerAsnLeuHisThrValLys) c.2980_3006dup (p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLys) c.2977_3003dup (p.Lys1001_Ile1002insAspThrSerAsnLeuHisThrValLys) c.2947_2973dup (p.Lys991_Ile992insAspThrSerAsnLeuHisThrValLys) c.2917_2943dup (p.Lys981_Ile982insAspThrSerAsnLeuHisThrValLys) c.2212_2238dup (p.Lys746_Ile747insAspThrSerAsnLeuHisThrValLys) c.2167_2193dup (p.Lys731_Ile732insAspThrSerAsnLeuHisThrValLys) c.2047_2073dup (p.Lys691_Ile692insAspThrSerAsnLeuHisThrValLys) c.2920_2946dup (p.Lys982_Ile983insAspThrSerAsnLeuHisThrValLys) c.2959_2985dup (p.Lys995_Ile996insAspThrSerAsnLeuHisThrValLys) c.2875_2901dup (p.Lys967_Ile968insAspThrSerAsnLeuHisThrValLys) c.2905_2931dup (p.Lys977_Ile978insAspThrSerAsnLeuHisThrValLys) c.2983_3009dup (p.Lys1003_Ile1004insAspThrSerAsnLeuHisThrValLys) c.2974_3000dup (p.Lys1000_Ile1001insAspThrSerAsnLeuHisThrValLys) c.2935_2961dup (p.Lys987_Ile988insAspThrSerAsnLeuHisThrValLys) c.2944_2970dup (p.Lys990_Ile991insAspThrSerAsnLeuHisThrValLys) c.2968_2994dup (p.Lys998_Ile999insAspThrSerAsnLeuHisThrValLys) | gnomAD v4 |
2 | g.50495987G>A | CA426023262 | NRXN1 | c.2988C>T (p.Asp996=) n.964C>T n.1887C>T n.155C>T c.2142C>T (p.Asp714=) c.2133C>T (p.Asp711=) c.3108C>T (p.Asp1036=) c.2952C>T (p.Asp984=) c.2178C>T (p.Asp726=) c.90C>T (p.Asp30=) c.2964C>T (p.Asp988=) c.3009C>T (p.Asp1003=) c.3006C>T (p.Asp1002=) c.2997C>T (p.Asp999=) c.2991C>T (p.Asp997=) c.2982C>T (p.Asp994=) c.2979C>T (p.Asp993=) c.2949C>T (p.Asp983=) c.2919C>T (p.Asp973=) c.2214C>T (p.Asp738=) c.2169C>T (p.Asp723=) c.2049C>T (p.Asp683=) c.2922C>T (p.Asp974=) c.2961C>T (p.Asp987=) c.2877C>T (p.Asp959=) c.2907C>T (p.Asp969=) c.2985C>T (p.Asp995=) c.2976C>T (p.Asp992=) c.2937C>T (p.Asp979=) c.2946C>T (p.Asp982=) c.2970C>T (p.Asp990=) | ClinVar |
2 | g.50495987G>C | CA346776406 | NRXN1 | c.2988C>G (p.Asp996Glu) n.964C>G n.1887C>G n.155C>G c.2142C>G (p.Asp714Glu) c.2133C>G (p.Asp711Glu) c.3108C>G (p.Asp1036Glu) c.2952C>G (p.Asp984Glu) c.2178C>G (p.Asp726Glu) c.90C>G (p.Asp30Glu) c.2964C>G (p.Asp988Glu) c.3009C>G (p.Asp1003Glu) c.3006C>G (p.Asp1002Glu) c.2997C>G (p.Asp999Glu) c.2991C>G (p.Asp997Glu) c.2982C>G (p.Asp994Glu) c.2979C>G (p.Asp993Glu) c.2949C>G (p.Asp983Glu) c.2919C>G (p.Asp973Glu) c.2214C>G (p.Asp738Glu) c.2169C>G (p.Asp723Glu) c.2049C>G (p.Asp683Glu) c.2922C>G (p.Asp974Glu) c.2961C>G (p.Asp987Glu) c.2877C>G (p.Asp959Glu) c.2907C>G (p.Asp969Glu) c.2985C>G (p.Asp995Glu) c.2976C>G (p.Asp992Glu) c.2937C>G (p.Asp979Glu) c.2946C>G (p.Asp982Glu) c.2970C>G (p.Asp990Glu) | |
2 | g.50495987G>T | CA346776407 | NRXN1 | c.2988C>A (p.Asp996Glu) n.964C>A n.1887C>A n.155C>A c.2142C>A (p.Asp714Glu) c.2133C>A (p.Asp711Glu) c.3108C>A (p.Asp1036Glu) c.2952C>A (p.Asp984Glu) c.2178C>A (p.Asp726Glu) c.90C>A (p.Asp30Glu) c.2964C>A (p.Asp988Glu) c.3009C>A (p.Asp1003Glu) c.3006C>A (p.Asp1002Glu) c.2997C>A (p.Asp999Glu) c.2991C>A (p.Asp997Glu) c.2982C>A (p.Asp994Glu) c.2979C>A (p.Asp993Glu) c.2949C>A (p.Asp983Glu) c.2919C>A (p.Asp973Glu) c.2214C>A (p.Asp738Glu) c.2169C>A (p.Asp723Glu) c.2049C>A (p.Asp683Glu) c.2922C>A (p.Asp974Glu) c.2961C>A (p.Asp987Glu) c.2877C>A (p.Asp959Glu) c.2907C>A (p.Asp969Glu) c.2985C>A (p.Asp995Glu) c.2976C>A (p.Asp992Glu) c.2937C>A (p.Asp979Glu) c.2946C>A (p.Asp982Glu) c.2970C>A (p.Asp990Glu) | |
2 | g.50495988T>A | CA346776408 | NRXN1 | c.2987A>T (p.Asp996Val) n.963A>T n.1886A>T n.154A>T c.2141A>T (p.Asp714Val) c.2132A>T (p.Asp711Val) c.3107A>T (p.Asp1036Val) c.2951A>T (p.Asp984Val) c.2177A>T (p.Asp726Val) c.89A>T (p.Asp30Val) c.2963A>T (p.Asp988Val) c.3008A>T (p.Asp1003Val) c.3005A>T (p.Asp1002Val) c.2996A>T (p.Asp999Val) c.2990A>T (p.Asp997Val) c.2981A>T (p.Asp994Val) c.2978A>T (p.Asp993Val) c.2948A>T (p.Asp983Val) c.2918A>T (p.Asp973Val) c.2213A>T (p.Asp738Val) c.2168A>T (p.Asp723Val) c.2048A>T (p.Asp683Val) c.2921A>T (p.Asp974Val) c.2960A>T (p.Asp987Val) c.2876A>T (p.Asp959Val) c.2906A>T (p.Asp969Val) c.2984A>T (p.Asp995Val) c.2975A>T (p.Asp992Val) c.2936A>T (p.Asp979Val) c.2945A>T (p.Asp982Val) c.2969A>T (p.Asp990Val) | |
2 | g.50495988T>C | CA346776409 | NRXN1 | c.2987A>G (p.Asp996Gly) n.963A>G n.1886A>G n.154A>G c.2141A>G (p.Asp714Gly) c.2132A>G (p.Asp711Gly) c.3107A>G (p.Asp1036Gly) c.2951A>G (p.Asp984Gly) c.2177A>G (p.Asp726Gly) c.89A>G (p.Asp30Gly) c.2963A>G (p.Asp988Gly) c.3008A>G (p.Asp1003Gly) c.3005A>G (p.Asp1002Gly) c.2996A>G (p.Asp999Gly) c.2990A>G (p.Asp997Gly) c.2981A>G (p.Asp994Gly) c.2978A>G (p.Asp993Gly) c.2948A>G (p.Asp983Gly) c.2918A>G (p.Asp973Gly) c.2213A>G (p.Asp738Gly) c.2168A>G (p.Asp723Gly) c.2048A>G (p.Asp683Gly) c.2921A>G (p.Asp974Gly) c.2960A>G (p.Asp987Gly) c.2876A>G (p.Asp959Gly) c.2906A>G (p.Asp969Gly) c.2984A>G (p.Asp995Gly) c.2975A>G (p.Asp992Gly) c.2936A>G (p.Asp979Gly) c.2945A>G (p.Asp982Gly) c.2969A>G (p.Asp990Gly) | gnomAD v4 |
2 | g.50495988T>G | CA346776410 | NRXN1 | c.2987A>C (p.Asp996Ala) n.963A>C n.1886A>C n.154A>C c.2141A>C (p.Asp714Ala) c.2132A>C (p.Asp711Ala) c.3107A>C (p.Asp1036Ala) c.2951A>C (p.Asp984Ala) c.2177A>C (p.Asp726Ala) c.89A>C (p.Asp30Ala) c.2963A>C (p.Asp988Ala) c.3008A>C (p.Asp1003Ala) c.3005A>C (p.Asp1002Ala) c.2996A>C (p.Asp999Ala) c.2990A>C (p.Asp997Ala) c.2981A>C (p.Asp994Ala) c.2978A>C (p.Asp993Ala) c.2948A>C (p.Asp983Ala) c.2918A>C (p.Asp973Ala) c.2213A>C (p.Asp738Ala) c.2168A>C (p.Asp723Ala) c.2048A>C (p.Asp683Ala) c.2921A>C (p.Asp974Ala) c.2960A>C (p.Asp987Ala) c.2876A>C (p.Asp959Ala) c.2906A>C (p.Asp969Ala) c.2984A>C (p.Asp995Ala) c.2975A>C (p.Asp992Ala) c.2936A>C (p.Asp979Ala) c.2945A>C (p.Asp982Ala) c.2969A>C (p.Asp990Ala) | |
2 | g.50495989C>A | CA346776411 | NRXN1 | c.2986G>T (p.Asp996Tyr) n.962G>T n.1885G>T n.153G>T c.2140G>T (p.Asp714Tyr) c.2131G>T (p.Asp711Tyr) c.3106G>T (p.Asp1036Tyr) c.2950G>T (p.Asp984Tyr) c.2176G>T (p.Asp726Tyr) c.88G>T (p.Asp30Tyr) c.2962G>T (p.Asp988Tyr) c.3007G>T (p.Asp1003Tyr) c.3004G>T (p.Asp1002Tyr) c.2995G>T (p.Asp999Tyr) c.2989G>T (p.Asp997Tyr) c.2980G>T (p.Asp994Tyr) c.2977G>T (p.Asp993Tyr) c.2947G>T (p.Asp983Tyr) c.2917G>T (p.Asp973Tyr) c.2212G>T (p.Asp738Tyr) c.2167G>T (p.Asp723Tyr) c.2047G>T (p.Asp683Tyr) c.2920G>T (p.Asp974Tyr) c.2959G>T (p.Asp987Tyr) c.2875G>T (p.Asp959Tyr) c.2905G>T (p.Asp969Tyr) c.2983G>T (p.Asp995Tyr) c.2974G>T (p.Asp992Tyr) c.2935G>T (p.Asp979Tyr) c.2944G>T (p.Asp982Tyr) c.2968G>T (p.Asp990Tyr) | |
2 | g.50495989C= | CA1249594042 | NRXN1 | c.2986G= (p.Asp996=) n.962G= n.1885G= n.153G= c.2140G= (p.Asp714=) c.2131G= (p.Asp711=) c.3106G= (p.Asp1036=) c.2950G= (p.Asp984=) c.2176G= (p.Asp726=) c.88G= (p.Asp30=) c.2962G= (p.Asp988=) c.3007G= (p.Asp1003=) c.3004G= (p.Asp1002=) c.2995G= (p.Asp999=) c.2989G= (p.Asp997=) c.2980G= (p.Asp994=) c.2977G= (p.Asp993=) c.2947G= (p.Asp983=) c.2917G= (p.Asp973=) c.2212G= (p.Asp738=) c.2167G= (p.Asp723=) c.2047G= (p.Asp683=) c.2920G= (p.Asp974=) c.2959G= (p.Asp987=) c.2875G= (p.Asp959=) c.2905G= (p.Asp969=) c.2983G= (p.Asp995=) c.2974G= (p.Asp992=) c.2935G= (p.Asp979=) c.2944G= (p.Asp982=) c.2968G= (p.Asp990=) | |
2 | g.50495989C>G | CA346776412 | NRXN1 | c.2986G>C (p.Asp996His) n.962G>C n.1885G>C n.153G>C c.2140G>C (p.Asp714His) c.2131G>C (p.Asp711His) c.3106G>C (p.Asp1036His) c.2950G>C (p.Asp984His) c.2176G>C (p.Asp726His) c.88G>C (p.Asp30His) c.2962G>C (p.Asp988His) c.3007G>C (p.Asp1003His) c.3004G>C (p.Asp1002His) c.2995G>C (p.Asp999His) c.2989G>C (p.Asp997His) c.2980G>C (p.Asp994His) c.2977G>C (p.Asp993His) c.2947G>C (p.Asp983His) c.2917G>C (p.Asp973His) c.2212G>C (p.Asp738His) c.2167G>C (p.Asp723His) c.2047G>C (p.Asp683His) c.2920G>C (p.Asp974His) c.2959G>C (p.Asp987His) c.2875G>C (p.Asp959His) c.2905G>C (p.Asp969His) c.2983G>C (p.Asp995His) c.2974G>C (p.Asp992His) c.2935G>C (p.Asp979His) c.2944G>C (p.Asp982His) c.2968G>C (p.Asp990His) | |
2 | g.50495989C>T | CA346776413 | NRXN1 | c.2986G>A (p.Asp996Asn) n.962G>A n.1885G>A n.153G>A c.2140G>A (p.Asp714Asn) c.2131G>A (p.Asp711Asn) c.3106G>A (p.Asp1036Asn) c.2950G>A (p.Asp984Asn) c.2176G>A (p.Asp726Asn) c.88G>A (p.Asp30Asn) c.2962G>A (p.Asp988Asn) c.3007G>A (p.Asp1003Asn) c.3004G>A (p.Asp1002Asn) c.2995G>A (p.Asp999Asn) c.2989G>A (p.Asp997Asn) c.2980G>A (p.Asp994Asn) c.2977G>A (p.Asp993Asn) c.2947G>A (p.Asp983Asn) c.2917G>A (p.Asp973Asn) c.2212G>A (p.Asp738Asn) c.2167G>A (p.Asp723Asn) c.2047G>A (p.Asp683Asn) c.2920G>A (p.Asp974Asn) c.2959G>A (p.Asp987Asn) c.2875G>A (p.Asp959Asn) c.2905G>A (p.Asp969Asn) c.2983G>A (p.Asp995Asn) c.2974G>A (p.Asp992Asn) c.2935G>A (p.Asp979Asn) c.2944G>A (p.Asp982Asn) c.2968G>A (p.Asp990Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50495990C>A | CA346776414 | NRXN1 | c.2985G>T (p.Arg995Ser) n.961G>T n.1884G>T n.152G>T c.2139G>T (p.Arg713Ser) c.2130G>T (p.Arg710Ser) c.3105G>T (p.Arg1035Ser) c.2949G>T (p.Arg983Ser) c.2175G>T (p.Arg725Ser) c.87G>T (p.Arg29Ser) c.2961G>T (p.Arg987Ser) c.3006G>T (p.Arg1002Ser) c.3003G>T (p.Arg1001Ser) c.2994G>T (p.Arg998Ser) c.2988G>T (p.Arg996Ser) c.2979G>T (p.Arg993Ser) c.2976G>T (p.Arg992Ser) c.2946G>T (p.Arg982Ser) c.2916G>T (p.Arg972Ser) c.2211G>T (p.Arg737Ser) c.2166G>T (p.Arg722Ser) c.2046G>T (p.Arg682Ser) c.2919G>T (p.Arg973Ser) c.2958G>T (p.Arg986Ser) c.2874G>T (p.Arg958Ser) c.2904G>T (p.Arg968Ser) c.2982G>T (p.Arg994Ser) c.2973G>T (p.Arg991Ser) c.2934G>T (p.Arg978Ser) c.2943G>T (p.Arg981Ser) c.2967G>T (p.Arg989Ser) | |
2 | g.50495990C>G | CA346776415 | NRXN1 | c.2985G>C (p.Arg995Ser) n.961G>C n.1884G>C n.152G>C c.2139G>C (p.Arg713Ser) c.2130G>C (p.Arg710Ser) c.3105G>C (p.Arg1035Ser) c.2949G>C (p.Arg983Ser) c.2175G>C (p.Arg725Ser) c.87G>C (p.Arg29Ser) c.2961G>C (p.Arg987Ser) c.3006G>C (p.Arg1002Ser) c.3003G>C (p.Arg1001Ser) c.2994G>C (p.Arg998Ser) c.2988G>C (p.Arg996Ser) c.2979G>C (p.Arg993Ser) c.2976G>C (p.Arg992Ser) c.2946G>C (p.Arg982Ser) c.2916G>C (p.Arg972Ser) c.2211G>C (p.Arg737Ser) c.2166G>C (p.Arg722Ser) c.2046G>C (p.Arg682Ser) c.2919G>C (p.Arg973Ser) c.2958G>C (p.Arg986Ser) c.2874G>C (p.Arg958Ser) c.2904G>C (p.Arg968Ser) c.2982G>C (p.Arg994Ser) c.2973G>C (p.Arg991Ser) c.2934G>C (p.Arg978Ser) c.2943G>C (p.Arg981Ser) c.2967G>C (p.Arg989Ser) | |
2 | g.50495990C>T | CA426023263 | NRXN1 | c.2985G>A (p.Arg995=) n.961G>A n.1884G>A n.152G>A c.2139G>A (p.Arg713=) c.2130G>A (p.Arg710=) c.3105G>A (p.Arg1035=) c.2949G>A (p.Arg983=) c.2175G>A (p.Arg725=) c.87G>A (p.Arg29=) c.2961G>A (p.Arg987=) c.3006G>A (p.Arg1002=) c.3003G>A (p.Arg1001=) c.2994G>A (p.Arg998=) c.2988G>A (p.Arg996=) c.2979G>A (p.Arg993=) c.2976G>A (p.Arg992=) c.2946G>A (p.Arg982=) c.2916G>A (p.Arg972=) c.2211G>A (p.Arg737=) c.2166G>A (p.Arg722=) c.2046G>A (p.Arg682=) c.2919G>A (p.Arg973=) c.2958G>A (p.Arg986=) c.2874G>A (p.Arg958=) c.2904G>A (p.Arg968=) c.2982G>A (p.Arg994=) c.2973G>A (p.Arg991=) c.2934G>A (p.Arg978=) c.2943G>A (p.Arg981=) c.2967G>A (p.Arg989=) | ClinVar dbSNP gnomAD v4 |
2 | g.50495991C>A | CA346776416 | NRXN1 | c.2984G>T (p.Arg995Met) n.960G>T n.1883G>T n.151G>T c.2138G>T (p.Arg713Met) c.2129G>T (p.Arg710Met) c.3104G>T (p.Arg1035Met) c.2948G>T (p.Arg983Met) c.2174G>T (p.Arg725Met) c.86G>T (p.Arg29Met) c.2960G>T (p.Arg987Met) c.3005G>T (p.Arg1002Met) c.3002G>T (p.Arg1001Met) c.2993G>T (p.Arg998Met) c.2987G>T (p.Arg996Met) c.2978G>T (p.Arg993Met) c.2975G>T (p.Arg992Met) c.2945G>T (p.Arg982Met) c.2915G>T (p.Arg972Met) c.2210G>T (p.Arg737Met) c.2165G>T (p.Arg722Met) c.2045G>T (p.Arg682Met) c.2918G>T (p.Arg973Met) c.2957G>T (p.Arg986Met) c.2873G>T (p.Arg958Met) c.2903G>T (p.Arg968Met) c.2981G>T (p.Arg994Met) c.2972G>T (p.Arg991Met) c.2933G>T (p.Arg978Met) c.2942G>T (p.Arg981Met) c.2966G>T (p.Arg989Met) | |
2 | g.50495991C= | CA1249594043 | NRXN1 | c.2984G= (p.Arg995=) n.960G= n.1883G= n.151G= c.2138G= (p.Arg713=) c.2129G= (p.Arg710=) c.3104G= (p.Arg1035=) c.2948G= (p.Arg983=) c.2174G= (p.Arg725=) c.86G= (p.Arg29=) c.2960G= (p.Arg987=) c.3005G= (p.Arg1002=) c.3002G= (p.Arg1001=) c.2993G= (p.Arg998=) c.2987G= (p.Arg996=) c.2978G= (p.Arg993=) c.2975G= (p.Arg992=) c.2945G= (p.Arg982=) c.2915G= (p.Arg972=) c.2210G= (p.Arg737=) c.2165G= (p.Arg722=) c.2045G= (p.Arg682=) c.2918G= (p.Arg973=) c.2957G= (p.Arg986=) c.2873G= (p.Arg958=) c.2903G= (p.Arg968=) c.2981G= (p.Arg994=) c.2972G= (p.Arg991=) c.2933G= (p.Arg978=) c.2942G= (p.Arg981=) c.2966G= (p.Arg989=) | |
2 | g.50495991C>G | CA346776417 | NRXN1 | c.2984G>C (p.Arg995Thr) n.960G>C n.1883G>C n.151G>C c.2138G>C (p.Arg713Thr) c.2129G>C (p.Arg710Thr) c.3104G>C (p.Arg1035Thr) c.2948G>C (p.Arg983Thr) c.2174G>C (p.Arg725Thr) c.86G>C (p.Arg29Thr) c.2960G>C (p.Arg987Thr) c.3005G>C (p.Arg1002Thr) c.3002G>C (p.Arg1001Thr) c.2993G>C (p.Arg998Thr) c.2987G>C (p.Arg996Thr) c.2978G>C (p.Arg993Thr) c.2975G>C (p.Arg992Thr) c.2945G>C (p.Arg982Thr) c.2915G>C (p.Arg972Thr) c.2210G>C (p.Arg737Thr) c.2165G>C (p.Arg722Thr) c.2045G>C (p.Arg682Thr) c.2918G>C (p.Arg973Thr) c.2957G>C (p.Arg986Thr) c.2873G>C (p.Arg958Thr) c.2903G>C (p.Arg968Thr) c.2981G>C (p.Arg994Thr) c.2972G>C (p.Arg991Thr) c.2933G>C (p.Arg978Thr) c.2942G>C (p.Arg981Thr) c.2966G>C (p.Arg989Thr) | |
2 | g.50495991C>T | CA47358998 | NRXN1 | c.2984G>A (p.Arg995Lys) n.960G>A n.1883G>A n.151G>A c.2138G>A (p.Arg713Lys) c.2129G>A (p.Arg710Lys) c.3104G>A (p.Arg1035Lys) c.2948G>A (p.Arg983Lys) c.2174G>A (p.Arg725Lys) c.86G>A (p.Arg29Lys) c.2960G>A (p.Arg987Lys) c.3005G>A (p.Arg1002Lys) c.3002G>A (p.Arg1001Lys) c.2993G>A (p.Arg998Lys) c.2987G>A (p.Arg996Lys) c.2978G>A (p.Arg993Lys) c.2975G>A (p.Arg992Lys) c.2945G>A (p.Arg982Lys) c.2915G>A (p.Arg972Lys) c.2210G>A (p.Arg737Lys) c.2165G>A (p.Arg722Lys) c.2045G>A (p.Arg682Lys) c.2918G>A (p.Arg973Lys) c.2957G>A (p.Arg986Lys) c.2873G>A (p.Arg958Lys) c.2903G>A (p.Arg968Lys) c.2981G>A (p.Arg994Lys) c.2972G>A (p.Arg991Lys) c.2933G>A (p.Arg978Lys) c.2942G>A (p.Arg981Lys) c.2966G>A (p.Arg989Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.50495992T>A | CA346776418 | NRXN1 | c.2983A>T (p.Arg995Trp) n.959A>T n.1882A>T n.150A>T c.2137A>T (p.Arg713Trp) c.2128A>T (p.Arg710Trp) c.3103A>T (p.Arg1035Trp) c.2947A>T (p.Arg983Trp) c.2173A>T (p.Arg725Trp) c.85A>T (p.Arg29Trp) c.2959A>T (p.Arg987Trp) c.3004A>T (p.Arg1002Trp) c.3001A>T (p.Arg1001Trp) c.2992A>T (p.Arg998Trp) c.2986A>T (p.Arg996Trp) c.2977A>T (p.Arg993Trp) c.2974A>T (p.Arg992Trp) c.2944A>T (p.Arg982Trp) c.2914A>T (p.Arg972Trp) c.2209A>T (p.Arg737Trp) c.2164A>T (p.Arg722Trp) c.2044A>T (p.Arg682Trp) c.2917A>T (p.Arg973Trp) c.2956A>T (p.Arg986Trp) c.2872A>T (p.Arg958Trp) c.2902A>T (p.Arg968Trp) c.2980A>T (p.Arg994Trp) c.2971A>T (p.Arg991Trp) c.2932A>T (p.Arg978Trp) c.2941A>T (p.Arg981Trp) c.2965A>T (p.Arg989Trp) | |
2 | g.50495992T>C | CA346776419 | NRXN1 | c.2983A>G (p.Arg995Gly) n.959A>G n.1882A>G n.150A>G c.2137A>G (p.Arg713Gly) c.2128A>G (p.Arg710Gly) c.3103A>G (p.Arg1035Gly) c.2947A>G (p.Arg983Gly) c.2173A>G (p.Arg725Gly) c.85A>G (p.Arg29Gly) c.2959A>G (p.Arg987Gly) c.3004A>G (p.Arg1002Gly) c.3001A>G (p.Arg1001Gly) c.2992A>G (p.Arg998Gly) c.2986A>G (p.Arg996Gly) c.2977A>G (p.Arg993Gly) c.2974A>G (p.Arg992Gly) c.2944A>G (p.Arg982Gly) c.2914A>G (p.Arg972Gly) c.2209A>G (p.Arg737Gly) c.2164A>G (p.Arg722Gly) c.2044A>G (p.Arg682Gly) c.2917A>G (p.Arg973Gly) c.2956A>G (p.Arg986Gly) c.2872A>G (p.Arg958Gly) c.2902A>G (p.Arg968Gly) c.2980A>G (p.Arg994Gly) c.2971A>G (p.Arg991Gly) c.2932A>G (p.Arg978Gly) c.2941A>G (p.Arg981Gly) c.2965A>G (p.Arg989Gly) | gnomAD v4 |
2 | g.50495992T>G | CA1654695 | NRXN1 | c.2983A>C (p.Arg995=) n.959A>C n.1882A>C n.150A>C c.2137A>C (p.Arg713=) c.2128A>C (p.Arg710=) c.3103A>C (p.Arg1035=) c.2947A>C (p.Arg983=) c.2173A>C (p.Arg725=) c.85A>C (p.Arg29=) c.2959A>C (p.Arg987=) c.3004A>C (p.Arg1002=) c.3001A>C (p.Arg1001=) c.2992A>C (p.Arg998=) c.2986A>C (p.Arg996=) c.2977A>C (p.Arg993=) c.2974A>C (p.Arg992=) c.2944A>C (p.Arg982=) c.2914A>C (p.Arg972=) c.2209A>C (p.Arg737=) c.2164A>C (p.Arg722=) c.2044A>C (p.Arg682=) c.2917A>C (p.Arg973=) c.2956A>C (p.Arg986=) c.2872A>C (p.Arg958=) c.2902A>C (p.Arg968=) c.2980A>C (p.Arg994=) c.2971A>C (p.Arg991=) c.2932A>C (p.Arg978=) c.2941A>C (p.Arg981=) c.2965A>C (p.Arg989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50495992T= | CA1249594044 | NRXN1 | c.2983A= (p.Arg995=) n.959A= n.1882A= n.150A= c.2137A= (p.Arg713=) c.2128A= (p.Arg710=) c.3103A= (p.Arg1035=) c.2947A= (p.Arg983=) c.2173A= (p.Arg725=) c.85A= (p.Arg29=) c.2959A= (p.Arg987=) c.3004A= (p.Arg1002=) c.3001A= (p.Arg1001=) c.2992A= (p.Arg998=) c.2986A= (p.Arg996=) c.2977A= (p.Arg993=) c.2974A= (p.Arg992=) c.2944A= (p.Arg982=) c.2914A= (p.Arg972=) c.2209A= (p.Arg737=) c.2164A= (p.Arg722=) c.2044A= (p.Arg682=) c.2917A= (p.Arg973=) c.2956A= (p.Arg986=) c.2872A= (p.Arg958=) c.2902A= (p.Arg968=) c.2980A= (p.Arg994=) c.2971A= (p.Arg991=) c.2932A= (p.Arg978=) c.2941A= (p.Arg981=) c.2965A= (p.Arg989=) | |
2 | g.50495993T>A | CA426023264 | NRXN1 | c.2982A>T (p.Ser994=) n.958A>T n.1881A>T n.149A>T c.2136A>T (p.Ser712=) c.2127A>T (p.Ser709=) c.3102A>T (p.Ser1034=) c.2946A>T (p.Ser982=) c.2172A>T (p.Ser724=) c.84A>T (p.Ser28=) c.2958A>T (p.Ser986=) c.3003A>T (p.Ser1001=) c.3000A>T (p.Ser1000=) c.2991A>T (p.Ser997=) c.2985A>T (p.Ser995=) c.2976A>T (p.Ser992=) c.2973A>T (p.Ser991=) c.2943A>T (p.Ser981=) c.2913A>T (p.Ser971=) c.2208A>T (p.Ser736=) c.2163A>T (p.Ser721=) c.2043A>T (p.Ser681=) c.2916A>T (p.Ser972=) c.2955A>T (p.Ser985=) c.2871A>T (p.Ser957=) c.2901A>T (p.Ser967=) c.2979A>T (p.Ser993=) c.2970A>T (p.Ser990=) c.2931A>T (p.Ser977=) c.2940A>T (p.Ser980=) c.2964A>T (p.Ser988=) | |
2 | g.50495993T>C | CA426023265 | NRXN1 | c.2982A>G (p.Ser994=) n.958A>G n.1881A>G n.149A>G c.2136A>G (p.Ser712=) c.2127A>G (p.Ser709=) c.3102A>G (p.Ser1034=) c.2946A>G (p.Ser982=) c.2172A>G (p.Ser724=) c.84A>G (p.Ser28=) c.2958A>G (p.Ser986=) c.3003A>G (p.Ser1001=) c.3000A>G (p.Ser1000=) c.2991A>G (p.Ser997=) c.2985A>G (p.Ser995=) c.2976A>G (p.Ser992=) c.2973A>G (p.Ser991=) c.2943A>G (p.Ser981=) c.2913A>G (p.Ser971=) c.2208A>G (p.Ser736=) c.2163A>G (p.Ser721=) c.2043A>G (p.Ser681=) c.2916A>G (p.Ser972=) c.2955A>G (p.Ser985=) c.2871A>G (p.Ser957=) c.2901A>G (p.Ser967=) c.2979A>G (p.Ser993=) c.2970A>G (p.Ser990=) c.2931A>G (p.Ser977=) c.2940A>G (p.Ser980=) c.2964A>G (p.Ser988=) | |
2 | g.50495993T>G | CA426023266 | NRXN1 | c.2982A>C (p.Ser994=) n.958A>C n.1881A>C n.149A>C c.2136A>C (p.Ser712=) c.2127A>C (p.Ser709=) c.3102A>C (p.Ser1034=) c.2946A>C (p.Ser982=) c.2172A>C (p.Ser724=) c.84A>C (p.Ser28=) c.2958A>C (p.Ser986=) c.3003A>C (p.Ser1001=) c.3000A>C (p.Ser1000=) c.2991A>C (p.Ser997=) c.2985A>C (p.Ser995=) c.2976A>C (p.Ser992=) c.2973A>C (p.Ser991=) c.2943A>C (p.Ser981=) c.2913A>C (p.Ser971=) c.2208A>C (p.Ser736=) c.2163A>C (p.Ser721=) c.2043A>C (p.Ser681=) c.2916A>C (p.Ser972=) c.2955A>C (p.Ser985=) c.2871A>C (p.Ser957=) c.2901A>C (p.Ser967=) c.2979A>C (p.Ser993=) c.2970A>C (p.Ser990=) c.2931A>C (p.Ser977=) c.2940A>C (p.Ser980=) c.2964A>C (p.Ser988=) | gnomAD v4 |
2 | g.50495994G>A | CA346776420 | NRXN1 | c.2981C>T (p.Ser994Leu) n.957C>T n.1880C>T n.148C>T c.2135C>T (p.Ser712Leu) c.2126C>T (p.Ser709Leu) c.3101C>T (p.Ser1034Leu) c.2945C>T (p.Ser982Leu) c.2171C>T (p.Ser724Leu) c.83C>T (p.Ser28Leu) c.2957C>T (p.Ser986Leu) c.3002C>T (p.Ser1001Leu) c.2999C>T (p.Ser1000Leu) c.2990C>T (p.Ser997Leu) c.2984C>T (p.Ser995Leu) c.2975C>T (p.Ser992Leu) c.2972C>T (p.Ser991Leu) c.2942C>T (p.Ser981Leu) c.2912C>T (p.Ser971Leu) c.2207C>T (p.Ser736Leu) c.2162C>T (p.Ser721Leu) c.2042C>T (p.Ser681Leu) c.2915C>T (p.Ser972Leu) c.2954C>T (p.Ser985Leu) c.2870C>T (p.Ser957Leu) c.2900C>T (p.Ser967Leu) c.2978C>T (p.Ser993Leu) c.2969C>T (p.Ser990Leu) c.2930C>T (p.Ser977Leu) c.2939C>T (p.Ser980Leu) c.2963C>T (p.Ser988Leu) | |
2 | g.50495994G>C | CA346776421 | NRXN1 | c.2981C>G (p.Ser994Ter) n.957C>G n.1880C>G n.148C>G c.2135C>G (p.Ser712Ter) c.2126C>G (p.Ser709Ter) c.3101C>G (p.Ser1034Ter) c.2945C>G (p.Ser982Ter) c.2171C>G (p.Ser724Ter) c.83C>G (p.Ser28Ter) c.2957C>G (p.Ser986Ter) c.3002C>G (p.Ser1001Ter) c.2999C>G (p.Ser1000Ter) c.2990C>G (p.Ser997Ter) c.2984C>G (p.Ser995Ter) c.2975C>G (p.Ser992Ter) c.2972C>G (p.Ser991Ter) c.2942C>G (p.Ser981Ter) c.2912C>G (p.Ser971Ter) c.2207C>G (p.Ser736Ter) c.2162C>G (p.Ser721Ter) c.2042C>G (p.Ser681Ter) c.2915C>G (p.Ser972Ter) c.2954C>G (p.Ser985Ter) c.2870C>G (p.Ser957Ter) c.2900C>G (p.Ser967Ter) c.2978C>G (p.Ser993Ter) c.2969C>G (p.Ser990Ter) c.2930C>G (p.Ser977Ter) c.2939C>G (p.Ser980Ter) c.2963C>G (p.Ser988Ter) | |
2 | g.50495994G>T | CA346776422 | NRXN1 | c.2981C>A (p.Ser994Ter) n.957C>A n.1880C>A n.148C>A c.2135C>A (p.Ser712Ter) c.2126C>A (p.Ser709Ter) c.3101C>A (p.Ser1034Ter) c.2945C>A (p.Ser982Ter) c.2171C>A (p.Ser724Ter) c.83C>A (p.Ser28Ter) c.2957C>A (p.Ser986Ter) c.3002C>A (p.Ser1001Ter) c.2999C>A (p.Ser1000Ter) c.2990C>A (p.Ser997Ter) c.2984C>A (p.Ser995Ter) c.2975C>A (p.Ser992Ter) c.2972C>A (p.Ser991Ter) c.2942C>A (p.Ser981Ter) c.2912C>A (p.Ser971Ter) c.2207C>A (p.Ser736Ter) c.2162C>A (p.Ser721Ter) c.2042C>A (p.Ser681Ter) c.2915C>A (p.Ser972Ter) c.2954C>A (p.Ser985Ter) c.2870C>A (p.Ser957Ter) c.2900C>A (p.Ser967Ter) c.2978C>A (p.Ser993Ter) c.2969C>A (p.Ser990Ter) c.2930C>A (p.Ser977Ter) c.2939C>A (p.Ser980Ter) c.2963C>A (p.Ser988Ter) | |
2 | g.50495995A>C | CA346776423 | NRXN1 | c.2980T>G (p.Ser994Ala) n.956T>G n.1879T>G n.147T>G c.2134T>G (p.Ser712Ala) c.2125T>G (p.Ser709Ala) c.3100T>G (p.Ser1034Ala) c.2944T>G (p.Ser982Ala) c.2170T>G (p.Ser724Ala) c.82T>G (p.Ser28Ala) c.2956T>G (p.Ser986Ala) c.3001T>G (p.Ser1001Ala) c.2998T>G (p.Ser1000Ala) c.2989T>G (p.Ser997Ala) c.2983T>G (p.Ser995Ala) c.2974T>G (p.Ser992Ala) c.2971T>G (p.Ser991Ala) c.2941T>G (p.Ser981Ala) c.2911T>G (p.Ser971Ala) c.2206T>G (p.Ser736Ala) c.2161T>G (p.Ser721Ala) c.2041T>G (p.Ser681Ala) c.2914T>G (p.Ser972Ala) c.2953T>G (p.Ser985Ala) c.2869T>G (p.Ser957Ala) c.2899T>G (p.Ser967Ala) c.2977T>G (p.Ser993Ala) c.2968T>G (p.Ser990Ala) c.2929T>G (p.Ser977Ala) c.2938T>G (p.Ser980Ala) c.2962T>G (p.Ser988Ala) | |
2 | g.50495995A>G | CA346776424 | NRXN1 | c.2980T>C (p.Ser994Pro) n.956T>C n.1879T>C n.147T>C c.2134T>C (p.Ser712Pro) c.2125T>C (p.Ser709Pro) c.3100T>C (p.Ser1034Pro) c.2944T>C (p.Ser982Pro) c.2170T>C (p.Ser724Pro) c.82T>C (p.Ser28Pro) c.2956T>C (p.Ser986Pro) c.3001T>C (p.Ser1001Pro) c.2998T>C (p.Ser1000Pro) c.2989T>C (p.Ser997Pro) c.2983T>C (p.Ser995Pro) c.2974T>C (p.Ser992Pro) c.2971T>C (p.Ser991Pro) c.2941T>C (p.Ser981Pro) c.2911T>C (p.Ser971Pro) c.2206T>C (p.Ser736Pro) c.2161T>C (p.Ser721Pro) c.2041T>C (p.Ser681Pro) c.2914T>C (p.Ser972Pro) c.2953T>C (p.Ser985Pro) c.2869T>C (p.Ser957Pro) c.2899T>C (p.Ser967Pro) c.2977T>C (p.Ser993Pro) c.2968T>C (p.Ser990Pro) c.2929T>C (p.Ser977Pro) c.2938T>C (p.Ser980Pro) c.2962T>C (p.Ser988Pro) | |
2 | g.50495995A>T | CA346776425 | NRXN1 | c.2980T>A (p.Ser994Thr) n.956T>A n.1879T>A n.147T>A c.2134T>A (p.Ser712Thr) c.2125T>A (p.Ser709Thr) c.3100T>A (p.Ser1034Thr) c.2944T>A (p.Ser982Thr) c.2170T>A (p.Ser724Thr) c.82T>A (p.Ser28Thr) c.2956T>A (p.Ser986Thr) c.3001T>A (p.Ser1001Thr) c.2998T>A (p.Ser1000Thr) c.2989T>A (p.Ser997Thr) c.2983T>A (p.Ser995Thr) c.2974T>A (p.Ser992Thr) c.2971T>A (p.Ser991Thr) c.2941T>A (p.Ser981Thr) c.2911T>A (p.Ser971Thr) c.2206T>A (p.Ser736Thr) c.2161T>A (p.Ser721Thr) c.2041T>A (p.Ser681Thr) c.2914T>A (p.Ser972Thr) c.2953T>A (p.Ser985Thr) c.2869T>A (p.Ser957Thr) c.2899T>A (p.Ser967Thr) c.2977T>A (p.Ser993Thr) c.2968T>A (p.Ser990Thr) c.2929T>A (p.Ser977Thr) c.2938T>A (p.Ser980Thr) c.2962T>A (p.Ser988Thr) | |
2 | g.50495996T>A | CA426023267 | NRXN1 | c.2979A>T (p.Ile993=) n.955A>T n.1878A>T n.146A>T c.2133A>T (p.Ile711=) c.2124A>T (p.Ile708=) c.3099A>T (p.Ile1033=) c.2943A>T (p.Ile981=) c.2169A>T (p.Ile723=) c.81A>T (p.Ile27=) c.2955A>T (p.Ile985=) c.3000A>T (p.Ile1000=) c.2997A>T (p.Ile999=) c.2988A>T (p.Ile996=) c.2982A>T (p.Ile994=) c.2973A>T (p.Ile991=) c.2970A>T (p.Ile990=) c.2940A>T (p.Ile980=) c.2910A>T (p.Ile970=) c.2205A>T (p.Ile735=) c.2160A>T (p.Ile720=) c.2040A>T (p.Ile680=) c.2913A>T (p.Ile971=) c.2952A>T (p.Ile984=) c.2868A>T (p.Ile956=) c.2898A>T (p.Ile966=) c.2976A>T (p.Ile992=) c.2967A>T (p.Ile989=) c.2928A>T (p.Ile976=) c.2937A>T (p.Ile979=) c.2961A>T (p.Ile987=) | |
2 | g.50495996T>C | CA316155 | NRXN1 | c.2979A>G (p.Ile993Met) n.955A>G n.1878A>G n.146A>G c.2133A>G (p.Ile711Met) c.2124A>G (p.Ile708Met) c.3099A>G (p.Ile1033Met) c.2943A>G (p.Ile981Met) c.2169A>G (p.Ile723Met) c.81A>G (p.Ile27Met) c.2955A>G (p.Ile985Met) c.3000A>G (p.Ile1000Met) c.2997A>G (p.Ile999Met) c.2988A>G (p.Ile996Met) c.2982A>G (p.Ile994Met) c.2973A>G (p.Ile991Met) c.2970A>G (p.Ile990Met) c.2940A>G (p.Ile980Met) c.2910A>G (p.Ile970Met) c.2205A>G (p.Ile735Met) c.2160A>G (p.Ile720Met) c.2040A>G (p.Ile680Met) c.2913A>G (p.Ile971Met) c.2952A>G (p.Ile984Met) c.2868A>G (p.Ile956Met) c.2898A>G (p.Ile966Met) c.2976A>G (p.Ile992Met) c.2967A>G (p.Ile989Met) c.2928A>G (p.Ile976Met) c.2937A>G (p.Ile979Met) c.2961A>G (p.Ile987Met) | ClinVar dbSNP gnomAD v2 |
2 | g.50495996T>G | CA426023268 | NRXN1 | c.2979A>C (p.Ile993=) n.955A>C n.1878A>C n.146A>C c.2133A>C (p.Ile711=) c.2124A>C (p.Ile708=) c.3099A>C (p.Ile1033=) c.2943A>C (p.Ile981=) c.2169A>C (p.Ile723=) c.81A>C (p.Ile27=) c.2955A>C (p.Ile985=) c.3000A>C (p.Ile1000=) c.2997A>C (p.Ile999=) c.2988A>C (p.Ile996=) c.2982A>C (p.Ile994=) c.2973A>C (p.Ile991=) c.2970A>C (p.Ile990=) c.2940A>C (p.Ile980=) c.2910A>C (p.Ile970=) c.2205A>C (p.Ile735=) c.2160A>C (p.Ile720=) c.2040A>C (p.Ile680=) c.2913A>C (p.Ile971=) c.2952A>C (p.Ile984=) c.2868A>C (p.Ile956=) c.2898A>C (p.Ile966=) c.2976A>C (p.Ile992=) c.2967A>C (p.Ile989=) c.2928A>C (p.Ile976=) c.2937A>C (p.Ile979=) c.2961A>C (p.Ile987=) | |
2 | g.50495996T= | CA1249594045 | NRXN1 | c.2979A= (p.Ile993=) n.955A= n.1878A= n.146A= c.2133A= (p.Ile711=) c.2124A= (p.Ile708=) c.3099A= (p.Ile1033=) c.2943A= (p.Ile981=) c.2169A= (p.Ile723=) c.81A= (p.Ile27=) c.2955A= (p.Ile985=) c.3000A= (p.Ile1000=) c.2997A= (p.Ile999=) c.2988A= (p.Ile996=) c.2982A= (p.Ile994=) c.2973A= (p.Ile991=) c.2970A= (p.Ile990=) c.2940A= (p.Ile980=) c.2910A= (p.Ile970=) c.2205A= (p.Ile735=) c.2160A= (p.Ile720=) c.2040A= (p.Ile680=) c.2913A= (p.Ile971=) c.2952A= (p.Ile984=) c.2868A= (p.Ile956=) c.2898A= (p.Ile966=) c.2976A= (p.Ile992=) c.2967A= (p.Ile989=) c.2928A= (p.Ile976=) c.2937A= (p.Ile979=) c.2961A= (p.Ile987=) | |
2 | g.50495997A>C | CA346776428 | NRXN1 | c.2978T>G (p.Ile993Arg) n.954T>G n.1877T>G n.145T>G c.2132T>G (p.Ile711Arg) c.2123T>G (p.Ile708Arg) c.3098T>G (p.Ile1033Arg) c.2942T>G (p.Ile981Arg) c.2168T>G (p.Ile723Arg) c.80T>G (p.Ile27Arg) c.2954T>G (p.Ile985Arg) c.2999T>G (p.Ile1000Arg) c.2996T>G (p.Ile999Arg) c.2987T>G (p.Ile996Arg) c.2981T>G (p.Ile994Arg) c.2972T>G (p.Ile991Arg) c.2969T>G (p.Ile990Arg) c.2939T>G (p.Ile980Arg) c.2909T>G (p.Ile970Arg) c.2204T>G (p.Ile735Arg) c.2159T>G (p.Ile720Arg) c.2039T>G (p.Ile680Arg) c.2912T>G (p.Ile971Arg) c.2951T>G (p.Ile984Arg) c.2867T>G (p.Ile956Arg) c.2897T>G (p.Ile966Arg) c.2975T>G (p.Ile992Arg) c.2966T>G (p.Ile989Arg) c.2927T>G (p.Ile976Arg) c.2936T>G (p.Ile979Arg) c.2960T>G (p.Ile987Arg) | |
2 | g.50495997A>G | CA346776426 | NRXN1 | c.2978T>C (p.Ile993Thr) n.954T>C n.1877T>C n.145T>C c.2132T>C (p.Ile711Thr) c.2123T>C (p.Ile708Thr) c.3098T>C (p.Ile1033Thr) c.2942T>C (p.Ile981Thr) c.2168T>C (p.Ile723Thr) c.80T>C (p.Ile27Thr) c.2954T>C (p.Ile985Thr) c.2999T>C (p.Ile1000Thr) c.2996T>C (p.Ile999Thr) c.2987T>C (p.Ile996Thr) c.2981T>C (p.Ile994Thr) c.2972T>C (p.Ile991Thr) c.2969T>C (p.Ile990Thr) c.2939T>C (p.Ile980Thr) c.2909T>C (p.Ile970Thr) c.2204T>C (p.Ile735Thr) c.2159T>C (p.Ile720Thr) c.2039T>C (p.Ile680Thr) c.2912T>C (p.Ile971Thr) c.2951T>C (p.Ile984Thr) c.2867T>C (p.Ile956Thr) c.2897T>C (p.Ile966Thr) c.2975T>C (p.Ile992Thr) c.2966T>C (p.Ile989Thr) c.2927T>C (p.Ile976Thr) c.2936T>C (p.Ile979Thr) c.2960T>C (p.Ile987Thr) | |
2 | g.50495997A>T | CA346776427 | NRXN1 | c.2978T>A (p.Ile993Lys) n.954T>A n.1877T>A n.145T>A c.2132T>A (p.Ile711Lys) c.2123T>A (p.Ile708Lys) c.3098T>A (p.Ile1033Lys) c.2942T>A (p.Ile981Lys) c.2168T>A (p.Ile723Lys) c.80T>A (p.Ile27Lys) c.2954T>A (p.Ile985Lys) c.2999T>A (p.Ile1000Lys) c.2996T>A (p.Ile999Lys) c.2987T>A (p.Ile996Lys) c.2981T>A (p.Ile994Lys) c.2972T>A (p.Ile991Lys) c.2969T>A (p.Ile990Lys) c.2939T>A (p.Ile980Lys) c.2909T>A (p.Ile970Lys) c.2204T>A (p.Ile735Lys) c.2159T>A (p.Ile720Lys) c.2039T>A (p.Ile680Lys) c.2912T>A (p.Ile971Lys) c.2951T>A (p.Ile984Lys) c.2867T>A (p.Ile956Lys) c.2897T>A (p.Ile966Lys) c.2975T>A (p.Ile992Lys) c.2966T>A (p.Ile989Lys) c.2927T>A (p.Ile976Lys) c.2936T>A (p.Ile979Lys) c.2960T>A (p.Ile987Lys) | |
2 | g.50495998T>A | CA346776429 | NRXN1 | c.2977A>T (p.Ile993Leu) n.953A>T n.1876A>T n.144A>T c.2131A>T (p.Ile711Leu) c.2122A>T (p.Ile708Leu) c.3097A>T (p.Ile1033Leu) c.2941A>T (p.Ile981Leu) c.2167A>T (p.Ile723Leu) c.79A>T (p.Ile27Leu) c.2953A>T (p.Ile985Leu) c.2998A>T (p.Ile1000Leu) c.2995A>T (p.Ile999Leu) c.2986A>T (p.Ile996Leu) c.2980A>T (p.Ile994Leu) c.2971A>T (p.Ile991Leu) c.2968A>T (p.Ile990Leu) c.2938A>T (p.Ile980Leu) c.2908A>T (p.Ile970Leu) c.2203A>T (p.Ile735Leu) c.2158A>T (p.Ile720Leu) c.2038A>T (p.Ile680Leu) c.2911A>T (p.Ile971Leu) c.2950A>T (p.Ile984Leu) c.2866A>T (p.Ile956Leu) c.2896A>T (p.Ile966Leu) c.2974A>T (p.Ile992Leu) c.2965A>T (p.Ile989Leu) c.2926A>T (p.Ile976Leu) c.2935A>T (p.Ile979Leu) c.2959A>T (p.Ile987Leu) | dbSNP |
2 | g.50495998T>C | CA346776430 | NRXN1 | c.2977A>G (p.Ile993Val) n.953A>G n.1876A>G n.144A>G c.2131A>G (p.Ile711Val) c.2122A>G (p.Ile708Val) c.3097A>G (p.Ile1033Val) c.2941A>G (p.Ile981Val) c.2167A>G (p.Ile723Val) c.79A>G (p.Ile27Val) c.2953A>G (p.Ile985Val) c.2998A>G (p.Ile1000Val) c.2995A>G (p.Ile999Val) c.2986A>G (p.Ile996Val) c.2980A>G (p.Ile994Val) c.2971A>G (p.Ile991Val) c.2968A>G (p.Ile990Val) c.2938A>G (p.Ile980Val) c.2908A>G (p.Ile970Val) c.2203A>G (p.Ile735Val) c.2158A>G (p.Ile720Val) c.2038A>G (p.Ile680Val) c.2911A>G (p.Ile971Val) c.2950A>G (p.Ile984Val) c.2866A>G (p.Ile956Val) c.2896A>G (p.Ile966Val) c.2974A>G (p.Ile992Val) c.2965A>G (p.Ile989Val) c.2926A>G (p.Ile976Val) c.2935A>G (p.Ile979Val) c.2959A>G (p.Ile987Val) | ClinVar dbSNP gnomAD v4 |
2 | g.50495998T>G | CA346776431 | NRXN1 | c.2977A>C (p.Ile993Leu) n.953A>C n.1876A>C n.144A>C c.2131A>C (p.Ile711Leu) c.2122A>C (p.Ile708Leu) c.3097A>C (p.Ile1033Leu) c.2941A>C (p.Ile981Leu) c.2167A>C (p.Ile723Leu) c.79A>C (p.Ile27Leu) c.2953A>C (p.Ile985Leu) c.2998A>C (p.Ile1000Leu) c.2995A>C (p.Ile999Leu) c.2986A>C (p.Ile996Leu) c.2980A>C (p.Ile994Leu) c.2971A>C (p.Ile991Leu) c.2968A>C (p.Ile990Leu) c.2938A>C (p.Ile980Leu) c.2908A>C (p.Ile970Leu) c.2203A>C (p.Ile735Leu) c.2158A>C (p.Ile720Leu) c.2038A>C (p.Ile680Leu) c.2911A>C (p.Ile971Leu) c.2950A>C (p.Ile984Leu) c.2866A>C (p.Ile956Leu) c.2896A>C (p.Ile966Leu) c.2974A>C (p.Ile992Leu) c.2965A>C (p.Ile989Leu) c.2926A>C (p.Ile976Leu) c.2935A>C (p.Ile979Leu) c.2959A>C (p.Ile987Leu) | |
2 | g.50495998T= | CA1249594046 | NRXN1 | c.2977A= (p.Ile993=) n.953A= n.1876A= n.144A= c.2131A= (p.Ile711=) c.2122A= (p.Ile708=) c.3097A= (p.Ile1033=) c.2941A= (p.Ile981=) c.2167A= (p.Ile723=) c.79A= (p.Ile27=) c.2953A= (p.Ile985=) c.2998A= (p.Ile1000=) c.2995A= (p.Ile999=) c.2986A= (p.Ile996=) c.2980A= (p.Ile994=) c.2971A= (p.Ile991=) c.2968A= (p.Ile990=) c.2938A= (p.Ile980=) c.2908A= (p.Ile970=) c.2203A= (p.Ile735=) c.2158A= (p.Ile720=) c.2038A= (p.Ile680=) c.2911A= (p.Ile971=) c.2950A= (p.Ile984=) c.2866A= (p.Ile956=) c.2896A= (p.Ile966=) c.2974A= (p.Ile992=) c.2965A= (p.Ile989=) c.2926A= (p.Ile976=) c.2935A= (p.Ile979=) c.2959A= (p.Ile987=) | |
2 | g.50495999C>A | CA346776432 | NRXN1 | c.2976G>T (p.Met992Ile) n.952G>T n.1875G>T n.143G>T c.2130G>T (p.Met710Ile) c.2121G>T (p.Met707Ile) c.3096G>T (p.Met1032Ile) c.2940G>T (p.Met980Ile) c.2166G>T (p.Met722Ile) c.78G>T (p.Met26Ile) c.2952G>T (p.Met984Ile) c.2997G>T (p.Met999Ile) c.2994G>T (p.Met998Ile) c.2985G>T (p.Met995Ile) c.2979G>T (p.Met993Ile) c.2970G>T (p.Met990Ile) c.2967G>T (p.Met989Ile) c.2937G>T (p.Met979Ile) c.2907G>T (p.Met969Ile) c.2202G>T (p.Met734Ile) c.2157G>T (p.Met719Ile) c.2037G>T (p.Met679Ile) c.2910G>T (p.Met970Ile) c.2949G>T (p.Met983Ile) c.2865G>T (p.Met955Ile) c.2895G>T (p.Met965Ile) c.2973G>T (p.Met991Ile) c.2964G>T (p.Met988Ile) c.2925G>T (p.Met975Ile) c.2934G>T (p.Met978Ile) c.2958G>T (p.Met986Ile) | |
2 | g.50495999C= | CA1249594047 | NRXN1 | c.2976G= (p.Met992=) n.952G= n.1875G= n.143G= c.2130G= (p.Met710=) c.2121G= (p.Met707=) c.3096G= (p.Met1032=) c.2940G= (p.Met980=) c.2166G= (p.Met722=) c.78G= (p.Met26=) c.2952G= (p.Met984=) c.2997G= (p.Met999=) c.2994G= (p.Met998=) c.2985G= (p.Met995=) c.2979G= (p.Met993=) c.2970G= (p.Met990=) c.2967G= (p.Met989=) c.2937G= (p.Met979=) c.2907G= (p.Met969=) c.2202G= (p.Met734=) c.2157G= (p.Met719=) c.2037G= (p.Met679=) c.2910G= (p.Met970=) c.2949G= (p.Met983=) c.2865G= (p.Met955=) c.2895G= (p.Met965=) c.2973G= (p.Met991=) c.2964G= (p.Met988=) c.2925G= (p.Met975=) c.2934G= (p.Met978=) c.2958G= (p.Met986=) | |
2 | g.50495999C>G | CA346776433 | NRXN1 | c.2976G>C (p.Met992Ile) n.952G>C n.1875G>C n.143G>C c.2130G>C (p.Met710Ile) c.2121G>C (p.Met707Ile) c.3096G>C (p.Met1032Ile) c.2940G>C (p.Met980Ile) c.2166G>C (p.Met722Ile) c.78G>C (p.Met26Ile) c.2952G>C (p.Met984Ile) c.2997G>C (p.Met999Ile) c.2994G>C (p.Met998Ile) c.2985G>C (p.Met995Ile) c.2979G>C (p.Met993Ile) c.2970G>C (p.Met990Ile) c.2967G>C (p.Met989Ile) c.2937G>C (p.Met979Ile) c.2907G>C (p.Met969Ile) c.2202G>C (p.Met734Ile) c.2157G>C (p.Met719Ile) c.2037G>C (p.Met679Ile) c.2910G>C (p.Met970Ile) c.2949G>C (p.Met983Ile) c.2865G>C (p.Met955Ile) c.2895G>C (p.Met965Ile) c.2973G>C (p.Met991Ile) c.2964G>C (p.Met988Ile) c.2925G>C (p.Met975Ile) c.2934G>C (p.Met978Ile) c.2958G>C (p.Met986Ile) | dbSNP |
2 | g.50495999C>T | CA346776434 | NRXN1 | c.2976G>A (p.Met992Ile) n.952G>A n.1875G>A n.143G>A c.2130G>A (p.Met710Ile) c.2121G>A (p.Met707Ile) c.3096G>A (p.Met1032Ile) c.2940G>A (p.Met980Ile) c.2166G>A (p.Met722Ile) c.78G>A (p.Met26Ile) c.2952G>A (p.Met984Ile) c.2997G>A (p.Met999Ile) c.2994G>A (p.Met998Ile) c.2985G>A (p.Met995Ile) c.2979G>A (p.Met993Ile) c.2970G>A (p.Met990Ile) c.2967G>A (p.Met989Ile) c.2937G>A (p.Met979Ile) c.2907G>A (p.Met969Ile) c.2202G>A (p.Met734Ile) c.2157G>A (p.Met719Ile) c.2037G>A (p.Met679Ile) c.2910G>A (p.Met970Ile) c.2949G>A (p.Met983Ile) c.2865G>A (p.Met955Ile) c.2895G>A (p.Met965Ile) c.2973G>A (p.Met991Ile) c.2964G>A (p.Met988Ile) c.2925G>A (p.Met975Ile) c.2934G>A (p.Met978Ile) c.2958G>A (p.Met986Ile) | COSMIC COSMIC COSMIC COSMIC |
2 | g.50496000A>C | CA346776435 | NRXN1 | c.2975T>G (p.Met992Arg) n.951T>G n.1874T>G n.142T>G c.2129T>G (p.Met710Arg) c.2120T>G (p.Met707Arg) c.3095T>G (p.Met1032Arg) c.2939T>G (p.Met980Arg) c.2165T>G (p.Met722Arg) c.77T>G (p.Met26Arg) c.2951T>G (p.Met984Arg) c.2996T>G (p.Met999Arg) c.2993T>G (p.Met998Arg) c.2984T>G (p.Met995Arg) c.2978T>G (p.Met993Arg) c.2969T>G (p.Met990Arg) c.2966T>G (p.Met989Arg) c.2936T>G (p.Met979Arg) c.2906T>G (p.Met969Arg) c.2201T>G (p.Met734Arg) c.2156T>G (p.Met719Arg) c.2036T>G (p.Met679Arg) c.2909T>G (p.Met970Arg) c.2948T>G (p.Met983Arg) c.2864T>G (p.Met955Arg) c.2894T>G (p.Met965Arg) c.2972T>G (p.Met991Arg) c.2963T>G (p.Met988Arg) c.2924T>G (p.Met975Arg) c.2933T>G (p.Met978Arg) c.2957T>G (p.Met986Arg) | |
2 | g.50496000A>G | CA346776436 | NRXN1 | c.2975T>C (p.Met992Thr) n.951T>C n.1874T>C n.142T>C c.2129T>C (p.Met710Thr) c.2120T>C (p.Met707Thr) c.3095T>C (p.Met1032Thr) c.2939T>C (p.Met980Thr) c.2165T>C (p.Met722Thr) c.77T>C (p.Met26Thr) c.2951T>C (p.Met984Thr) c.2996T>C (p.Met999Thr) c.2993T>C (p.Met998Thr) c.2984T>C (p.Met995Thr) c.2978T>C (p.Met993Thr) c.2969T>C (p.Met990Thr) c.2966T>C (p.Met989Thr) c.2936T>C (p.Met979Thr) c.2906T>C (p.Met969Thr) c.2201T>C (p.Met734Thr) c.2156T>C (p.Met719Thr) c.2036T>C (p.Met679Thr) c.2909T>C (p.Met970Thr) c.2948T>C (p.Met983Thr) c.2864T>C (p.Met955Thr) c.2894T>C (p.Met965Thr) c.2972T>C (p.Met991Thr) c.2963T>C (p.Met988Thr) c.2924T>C (p.Met975Thr) c.2933T>C (p.Met978Thr) c.2957T>C (p.Met986Thr) | gnomAD v4 |
2 | g.50496000A>T | CA346776437 | NRXN1 | c.2975T>A (p.Met992Lys) n.951T>A n.1874T>A n.142T>A c.2129T>A (p.Met710Lys) c.2120T>A (p.Met707Lys) c.3095T>A (p.Met1032Lys) c.2939T>A (p.Met980Lys) c.2165T>A (p.Met722Lys) c.77T>A (p.Met26Lys) c.2951T>A (p.Met984Lys) c.2996T>A (p.Met999Lys) c.2993T>A (p.Met998Lys) c.2984T>A (p.Met995Lys) c.2978T>A (p.Met993Lys) c.2969T>A (p.Met990Lys) c.2966T>A (p.Met989Lys) c.2936T>A (p.Met979Lys) c.2906T>A (p.Met969Lys) c.2201T>A (p.Met734Lys) c.2156T>A (p.Met719Lys) c.2036T>A (p.Met679Lys) c.2909T>A (p.Met970Lys) c.2948T>A (p.Met983Lys) c.2864T>A (p.Met955Lys) c.2894T>A (p.Met965Lys) c.2972T>A (p.Met991Lys) c.2963T>A (p.Met988Lys) c.2924T>A (p.Met975Lys) c.2933T>A (p.Met978Lys) c.2957T>A (p.Met986Lys) | |
2 | g.50496001T>A | CA346776438 | NRXN1 | c.2974A>T (p.Met992Leu) n.950A>T n.1873A>T n.141A>T c.2128A>T (p.Met710Leu) c.2119A>T (p.Met707Leu) c.3094A>T (p.Met1032Leu) c.2938A>T (p.Met980Leu) c.2164A>T (p.Met722Leu) c.76A>T (p.Met26Leu) c.2950A>T (p.Met984Leu) c.2995A>T (p.Met999Leu) c.2992A>T (p.Met998Leu) c.2983A>T (p.Met995Leu) c.2977A>T (p.Met993Leu) c.2968A>T (p.Met990Leu) c.2965A>T (p.Met989Leu) c.2935A>T (p.Met979Leu) c.2905A>T (p.Met969Leu) c.2200A>T (p.Met734Leu) c.2155A>T (p.Met719Leu) c.2035A>T (p.Met679Leu) c.2908A>T (p.Met970Leu) c.2947A>T (p.Met983Leu) c.2863A>T (p.Met955Leu) c.2893A>T (p.Met965Leu) c.2971A>T (p.Met991Leu) c.2962A>T (p.Met988Leu) c.2923A>T (p.Met975Leu) c.2932A>T (p.Met978Leu) c.2956A>T (p.Met986Leu) |