Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.50495964_50495990dupCA2658984970NRXN1c.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
2g.50495987G>ACA426023262NRXN1c.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
2g.50495987G>CCA346776406NRXN1c.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)
2g.50495987G>TCA346776407NRXN1c.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)
2g.50495988T>ACA346776408NRXN1c.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)
2g.50495988T>CCA346776409NRXN1c.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
2g.50495988T>GCA346776410NRXN1c.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)
2g.50495989C>ACA346776411NRXN1c.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)
2g.50495989C=CA1249594042NRXN1c.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=)
2g.50495989C>GCA346776412NRXN1c.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)
2g.50495989C>TCA346776413NRXN1c.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
2g.50495990C>ACA346776414NRXN1c.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)
2g.50495990C>GCA346776415NRXN1c.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)
2g.50495990C>TCA426023263NRXN1c.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
2g.50495991C>ACA346776416NRXN1c.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)
2g.50495991C=CA1249594043NRXN1c.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=)
2g.50495991C>GCA346776417NRXN1c.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)
2g.50495991C>TCA47358998NRXN1c.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
2g.50495992T>ACA346776418NRXN1c.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)
2g.50495992T>CCA346776419NRXN1c.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
2g.50495992T>GCA1654695NRXN1c.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
2g.50495992T=CA1249594044NRXN1c.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=)
2g.50495993T>ACA426023264NRXN1c.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=)
2g.50495993T>CCA426023265NRXN1c.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=)
2g.50495993T>GCA426023266NRXN1c.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
2g.50495994G>ACA346776420NRXN1c.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)
2g.50495994G>CCA346776421NRXN1c.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)
2g.50495994G>TCA346776422NRXN1c.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)
2g.50495995A>CCA346776423NRXN1c.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)
2g.50495995A>GCA346776424NRXN1c.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)
2g.50495995A>TCA346776425NRXN1c.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)
2g.50495996T>ACA426023267NRXN1c.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=)
2g.50495996T>CCA316155NRXN1c.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
2g.50495996T>GCA426023268NRXN1c.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=)
2g.50495996T=CA1249594045NRXN1c.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=)
2g.50495997A>CCA346776428NRXN1c.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)
2g.50495997A>GCA346776426NRXN1c.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)
2g.50495997A>TCA346776427NRXN1c.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)
2g.50495998T>ACA346776429NRXN1c.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
2g.50495998T>CCA346776430NRXN1c.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
2g.50495998T>GCA346776431NRXN1c.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)
2g.50495998T=CA1249594046NRXN1c.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=)
2g.50495999C>ACA346776432NRXN1c.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)
2g.50495999C=CA1249594047NRXN1c.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=)
2g.50495999C>GCA346776433NRXN1c.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
2g.50495999C>TCA346776434NRXN1c.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
2g.50496000A>CCA346776435NRXN1c.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)
2g.50496000A>GCA346776436NRXN1c.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
2g.50496000A>TCA346776437NRXN1c.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)
2g.50496001T>ACA346776438NRXN1c.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)

Number of alleles fetched