Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10354069T>ACA403987744TYK2c.*1230A>T (n.*1230A>T)
c.2881A>T (p.Lys961Ter)
n.4257A>T
n.3295A>T
c.*2432A>T (n.*2432A>T)
c.*923A>T (n.*923A>T)
n.4340A>T
n.983A>T
c.*1986A>T (n.*1986A>T)
c.87A>T
c.85A>T (p.Lys29Ter)
c.2326A>T (p.Lys776Ter)
c.177A>T
n.553A>T
c.-446A>T (n.-446A>T)
c.310A>T (p.Lys104Ter)
n.35A>T
c.2584A>T (p.Lys862Ter)
c.1555A>T (p.Lys519Ter)
c.1138A>T (p.Lys380Ter)
n.3038A>T
n.3964A>T
c.2695A>T (p.Lys899Ter)
c.2878A>T (p.Lys960Ter)
c.2683A>T (p.Lys895Ter)
c.2797A>T (p.Lys933Ter)
c.2962A>T (p.Lys988Ter)
c.3091A>T (p.Lys1031Ter)
c.2791A>T (p.Lys931Ter)
c.2755A>T (p.Lys919Ter)
c.2863A>T (p.Lys955Ter)
19g.10354069T>CCA403987748TYK2c.*1230A>G (n.*1230A>G)
c.2881A>G (p.Lys961Glu)
n.4257A>G
n.3295A>G
c.*2432A>G (n.*2432A>G)
c.*923A>G (n.*923A>G)
n.4340A>G
n.983A>G
c.*1986A>G (n.*1986A>G)
c.87A>G
c.85A>G (p.Lys29Glu)
c.2326A>G (p.Lys776Glu)
c.177A>G
n.553A>G
c.-446A>G (n.-446A>G)
c.310A>G (p.Lys104Glu)
n.35A>G
c.2584A>G (p.Lys862Glu)
c.1555A>G (p.Lys519Glu)
c.1138A>G (p.Lys380Glu)
n.3038A>G
n.3964A>G
c.2695A>G (p.Lys899Glu)
c.2878A>G (p.Lys960Glu)
c.2683A>G (p.Lys895Glu)
c.2797A>G (p.Lys933Glu)
c.2962A>G (p.Lys988Glu)
c.3091A>G (p.Lys1031Glu)
c.2791A>G (p.Lys931Glu)
c.2755A>G (p.Lys919Glu)
c.2863A>G (p.Lys955Glu)
19g.10354069T>GCA403987753TYK2c.*1230A>C (n.*1230A>C)
c.2881A>C (p.Lys961Gln)
n.4257A>C
n.3295A>C
c.*2432A>C (n.*2432A>C)
c.*923A>C (n.*923A>C)
n.4340A>C
n.983A>C
c.*1986A>C (n.*1986A>C)
c.87A>C
c.85A>C (p.Lys29Gln)
c.2326A>C (p.Lys776Gln)
c.177A>C
n.553A>C
c.-446A>C (n.-446A>C)
c.310A>C (p.Lys104Gln)
n.35A>C
c.2584A>C (p.Lys862Gln)
c.1555A>C (p.Lys519Gln)
c.1138A>C (p.Lys380Gln)
n.3038A>C
n.3964A>C
c.2695A>C (p.Lys899Gln)
c.2878A>C (p.Lys960Gln)
c.2683A>C (p.Lys895Gln)
c.2797A>C (p.Lys933Gln)
c.2962A>C (p.Lys988Gln)
c.3091A>C (p.Lys1031Gln)
c.2791A>C (p.Lys931Gln)
c.2755A>C (p.Lys919Gln)
c.2863A>C (p.Lys955Gln)
19g.10354074_10354076delCA2582371511TYK2c.*1228_*1230del (n.*1228_*1230del)
c.2879_2881del (p.Ile960del)
n.4255_4257del
n.3293_3295del
c.*2430_*2432del (n.*2430_*2432del)
c.*921_*923del (n.*921_*923del)
n.4338_4340del
n.981_983del
c.*1984_*1986del (n.*1984_*1986del)
c.85_87del
c.83_85del (p.Ile28del)
c.2324_2326del (p.Ile775del)
c.175_177del
n.551_553del
c.-448_-446del (n.-448_-446del)
c.308_310del (p.Ile103del)
n.33_35del
c.2582_2584del (p.Ile861del)
c.1553_1555del (p.Ile518del)
c.1136_1138del (p.Ile379del)
n.3036_3038del
n.3962_3964del
c.2693_2695del (p.Ile898del)
c.2876_2878del (p.Ile959del)
c.2681_2683del (p.Ile894del)
c.2795_2797del (p.Ile932del)
c.2960_2962del (p.Ile987del)
c.3089_3091del (p.Ile1030del)
c.2789_2791del (p.Ile930del)
c.2753_2755del (p.Ile918del)
c.2861_2863del (p.Ile954del)
 gnomAD v4
19g.10354071_10354076delCA2813572825TYK2c.*1225_*1230del (n.*1225_*1230del)
c.2876_2881del (p.Ile959_Ile960del)
n.4252_4257del
n.3290_3295del
c.*2427_*2432del (n.*2427_*2432del)
c.*918_*923del (n.*918_*923del)
n.4335_4340del
n.978_983del
c.*1981_*1986del (n.*1981_*1986del)
c.82_87del
c.80_85del (p.Ile27_Ile28del)
c.2321_2326del (p.Ile774_Ile775del)
c.172_177del
n.548_553del
c.-451_-446del (n.-451_-446del)
c.305_310del (p.Ile102_Ile103del)
n.30_35del
c.2579_2584del (p.Ile860_Ile861del)
c.1550_1555del (p.Ile517_Ile518del)
c.1133_1138del (p.Ile378_Ile379del)
n.3033_3038del
n.3959_3964del
c.2690_2695del (p.Ile897_Ile898del)
c.2873_2878del (p.Ile958_Ile959del)
c.2678_2683del (p.Ile893_Ile894del)
c.2792_2797del (p.Ile931_Ile932del)
c.2957_2962del (p.Ile986_Ile987del)
c.3086_3091del (p.Ile1029_Ile1030del)
c.2786_2791del (p.Ile929_Ile930del)
c.2750_2755del (p.Ile917_Ile918del)
c.2858_2863del (p.Ile953_Ile954del)
19g.10354070G>ACA505373417TYK2c.*1229C>T (n.*1229C>T)
c.2880C>T (p.Ile960=)
n.4256C>T
n.3294C>T
c.*2431C>T (n.*2431C>T)
c.*922C>T (n.*922C>T)
n.4339C>T
n.982C>T
c.*1985C>T (n.*1985C>T)
c.86C>T
c.84C>T (p.Ile28=)
c.2325C>T (p.Ile775=)
c.176C>T
n.552C>T
c.-447C>T (n.-447C>T)
c.309C>T (p.Ile103=)
n.34C>T
c.2583C>T (p.Ile861=)
c.1554C>T (p.Ile518=)
c.1137C>T (p.Ile379=)
n.3037C>T
n.3963C>T
c.2694C>T (p.Ile898=)
c.2877C>T (p.Ile959=)
c.2682C>T (p.Ile894=)
c.2796C>T (p.Ile932=)
c.2961C>T (p.Ile987=)
c.3090C>T (p.Ile1030=)
c.2790C>T (p.Ile930=)
c.2754C>T (p.Ile918=)
c.2862C>T (p.Ile954=)
19g.10354070G>CCA403987756TYK2c.*1229C>G (n.*1229C>G)
c.2880C>G (p.Ile960Met)
n.4256C>G
n.3294C>G
c.*2431C>G (n.*2431C>G)
c.*922C>G (n.*922C>G)
n.4339C>G
n.982C>G
c.*1985C>G (n.*1985C>G)
c.86C>G
c.84C>G (p.Ile28Met)
c.2325C>G (p.Ile775Met)
c.176C>G
n.552C>G
c.-447C>G (n.-447C>G)
c.309C>G (p.Ile103Met)
n.34C>G
c.2583C>G (p.Ile861Met)
c.1554C>G (p.Ile518Met)
c.1137C>G (p.Ile379Met)
n.3037C>G
n.3963C>G
c.2694C>G (p.Ile898Met)
c.2877C>G (p.Ile959Met)
c.2682C>G (p.Ile894Met)
c.2796C>G (p.Ile932Met)
c.2961C>G (p.Ile987Met)
c.3090C>G (p.Ile1030Met)
c.2790C>G (p.Ile930Met)
c.2754C>G (p.Ile918Met)
c.2862C>G (p.Ile954Met)
19g.10354070G=CA2322387989TYK2c.*1229C= (n.*1229C=)
c.2880C= (p.Ile960=)
n.4256C=
n.3294C=
c.*2431C= (n.*2431C=)
c.*922C= (n.*922C=)
n.4339C=
n.982C=
c.*1985C= (n.*1985C=)
c.86C=
c.84C= (p.Ile28=)
c.2325C= (p.Ile775=)
c.176C=
n.552C=
c.-447C= (n.-447C=)
c.309C= (p.Ile103=)
n.34C=
c.2583C= (p.Ile861=)
c.1554C= (p.Ile518=)
c.1137C= (p.Ile379=)
n.3037C=
n.3963C=
c.2694C= (p.Ile898=)
c.2877C= (p.Ile959=)
c.2682C= (p.Ile894=)
c.2796C= (p.Ile932=)
c.2961C= (p.Ile987=)
c.3090C= (p.Ile1030=)
c.2790C= (p.Ile930=)
c.2754C= (p.Ile918=)
c.2862C= (p.Ile954=)
19g.10354070G>TCA505373416TYK2c.*1229C>A (n.*1229C>A)
c.2880C>A (p.Ile960=)
n.4256C>A
n.3294C>A
c.*2431C>A (n.*2431C>A)
c.*922C>A (n.*922C>A)
n.4339C>A
n.982C>A
c.*1985C>A (n.*1985C>A)
c.86C>A
c.84C>A (p.Ile28=)
c.2325C>A (p.Ile775=)
c.176C>A
n.552C>A
c.-447C>A (n.-447C>A)
c.309C>A (p.Ile103=)
n.34C>A
c.2583C>A (p.Ile861=)
c.1554C>A (p.Ile518=)
c.1137C>A (p.Ile379=)
n.3037C>A
n.3963C>A
c.2694C>A (p.Ile898=)
c.2877C>A (p.Ile959=)
c.2682C>A (p.Ile894=)
c.2796C>A (p.Ile932=)
c.2961C>A (p.Ile987=)
c.3090C>A (p.Ile1030=)
c.2790C>A (p.Ile930=)
c.2754C>A (p.Ile918=)
c.2862C>A (p.Ile954=)
 dbSNP gnomAD v2 gnomAD v4
19g.10354071A>CCA403987759TYK2c.*1228T>G (n.*1228T>G)
c.2879T>G (p.Ile960Ser)
n.4255T>G
n.3293T>G
c.*2430T>G (n.*2430T>G)
c.*921T>G (n.*921T>G)
n.4338T>G
n.981T>G
c.*1984T>G (n.*1984T>G)
c.85T>G
c.83T>G (p.Ile28Ser)
c.2324T>G (p.Ile775Ser)
c.175T>G
n.551T>G
c.-448T>G (n.-448T>G)
c.308T>G (p.Ile103Ser)
n.33T>G
c.2582T>G (p.Ile861Ser)
c.1553T>G (p.Ile518Ser)
c.1136T>G (p.Ile379Ser)
n.3036T>G
n.3962T>G
c.2693T>G (p.Ile898Ser)
c.2876T>G (p.Ile959Ser)
c.2681T>G (p.Ile894Ser)
c.2795T>G (p.Ile932Ser)
c.2960T>G (p.Ile987Ser)
c.3089T>G (p.Ile1030Ser)
c.2789T>G (p.Ile930Ser)
c.2753T>G (p.Ile918Ser)
c.2861T>G (p.Ile954Ser)
19g.10354071A>GCA403987767TYK2c.*1228T>C (n.*1228T>C)
c.2879T>C (p.Ile960Thr)
n.4255T>C
n.3293T>C
c.*2430T>C (n.*2430T>C)
c.*921T>C (n.*921T>C)
n.4338T>C
n.981T>C
c.*1984T>C (n.*1984T>C)
c.85T>C
c.83T>C (p.Ile28Thr)
c.2324T>C (p.Ile775Thr)
c.175T>C
n.551T>C
c.-448T>C (n.-448T>C)
c.308T>C (p.Ile103Thr)
n.33T>C
c.2582T>C (p.Ile861Thr)
c.1553T>C (p.Ile518Thr)
c.1136T>C (p.Ile379Thr)
n.3036T>C
n.3962T>C
c.2693T>C (p.Ile898Thr)
c.2876T>C (p.Ile959Thr)
c.2681T>C (p.Ile894Thr)
c.2795T>C (p.Ile932Thr)
c.2960T>C (p.Ile987Thr)
c.3089T>C (p.Ile1030Thr)
c.2789T>C (p.Ile930Thr)
c.2753T>C (p.Ile918Thr)
c.2861T>C (p.Ile954Thr)
19g.10354071A>TCA403987763TYK2c.*1228T>A (n.*1228T>A)
c.2879T>A (p.Ile960Asn)
n.4255T>A
n.3293T>A
c.*2430T>A (n.*2430T>A)
c.*921T>A (n.*921T>A)
n.4338T>A
n.981T>A
c.*1984T>A (n.*1984T>A)
c.85T>A
c.83T>A (p.Ile28Asn)
c.2324T>A (p.Ile775Asn)
c.175T>A
n.551T>A
c.-448T>A (n.-448T>A)
c.308T>A (p.Ile103Asn)
n.33T>A
c.2582T>A (p.Ile861Asn)
c.1553T>A (p.Ile518Asn)
c.1136T>A (p.Ile379Asn)
n.3036T>A
n.3962T>A
c.2693T>A (p.Ile898Asn)
c.2876T>A (p.Ile959Asn)
c.2681T>A (p.Ile894Asn)
c.2795T>A (p.Ile932Asn)
c.2960T>A (p.Ile987Asn)
c.3089T>A (p.Ile1030Asn)
c.2789T>A (p.Ile930Asn)
c.2753T>A (p.Ile918Asn)
c.2861T>A (p.Ile954Asn)
 gnomAD v4
19g.10354072T>ACA403987772TYK2c.*1227A>T (n.*1227A>T)
c.2878A>T (p.Ile960Phe)
n.4254A>T
n.3292A>T
c.*2429A>T (n.*2429A>T)
c.*920A>T (n.*920A>T)
n.4337A>T
n.980A>T
c.*1983A>T (n.*1983A>T)
c.84A>T
c.82A>T (p.Ile28Phe)
c.2323A>T (p.Ile775Phe)
c.174A>T
n.550A>T
c.-449A>T (n.-449A>T)
c.307A>T (p.Ile103Phe)
n.32A>T
c.2581A>T (p.Ile861Phe)
c.1552A>T (p.Ile518Phe)
c.1135A>T (p.Ile379Phe)
n.3035A>T
n.3961A>T
c.2692A>T (p.Ile898Phe)
c.2875A>T (p.Ile959Phe)
c.2680A>T (p.Ile894Phe)
c.2794A>T (p.Ile932Phe)
c.2959A>T (p.Ile987Phe)
c.3088A>T (p.Ile1030Phe)
c.2788A>T (p.Ile930Phe)
c.2752A>T (p.Ile918Phe)
c.2860A>T (p.Ile954Phe)
19g.10354072T>CCA403987776TYK2c.*1227A>G (n.*1227A>G)
c.2878A>G (p.Ile960Val)
n.4254A>G
n.3292A>G
c.*2429A>G (n.*2429A>G)
c.*920A>G (n.*920A>G)
n.4337A>G
n.980A>G
c.*1983A>G (n.*1983A>G)
c.84A>G
c.82A>G (p.Ile28Val)
c.2323A>G (p.Ile775Val)
c.174A>G
n.550A>G
c.-449A>G (n.-449A>G)
c.307A>G (p.Ile103Val)
n.32A>G
c.2581A>G (p.Ile861Val)
c.1552A>G (p.Ile518Val)
c.1135A>G (p.Ile379Val)
n.3035A>G
n.3961A>G
c.2692A>G (p.Ile898Val)
c.2875A>G (p.Ile959Val)
c.2680A>G (p.Ile894Val)
c.2794A>G (p.Ile932Val)
c.2959A>G (p.Ile987Val)
c.3088A>G (p.Ile1030Val)
c.2788A>G (p.Ile930Val)
c.2752A>G (p.Ile918Val)
c.2860A>G (p.Ile954Val)
 gnomAD v4
19g.10354072T>GCA403987779TYK2c.*1227A>C (n.*1227A>C)
c.2878A>C (p.Ile960Leu)
n.4254A>C
n.3292A>C
c.*2429A>C (n.*2429A>C)
c.*920A>C (n.*920A>C)
n.4337A>C
n.980A>C
c.*1983A>C (n.*1983A>C)
c.84A>C
c.82A>C (p.Ile28Leu)
c.2323A>C (p.Ile775Leu)
c.174A>C
n.550A>C
c.-449A>C (n.-449A>C)
c.307A>C (p.Ile103Leu)
n.32A>C
c.2581A>C (p.Ile861Leu)
c.1552A>C (p.Ile518Leu)
c.1135A>C (p.Ile379Leu)
n.3035A>C
n.3961A>C
c.2692A>C (p.Ile898Leu)
c.2875A>C (p.Ile959Leu)
c.2680A>C (p.Ile894Leu)
c.2794A>C (p.Ile932Leu)
c.2959A>C (p.Ile987Leu)
c.3088A>C (p.Ile1030Leu)
c.2788A>C (p.Ile930Leu)
c.2752A>C (p.Ile918Leu)
c.2860A>C (p.Ile954Leu)
19g.10354073G>ACA505373425TYK2c.*1226C>T (n.*1226C>T)
c.2877C>T (p.Ile959=)
n.4253C>T
n.3291C>T
c.*2428C>T (n.*2428C>T)
c.*919C>T (n.*919C>T)
n.4336C>T
n.979C>T
c.*1982C>T (n.*1982C>T)
c.83C>T
c.81C>T (p.Ile27=)
c.2322C>T (p.Ile774=)
c.173C>T
n.549C>T
c.-450C>T (n.-450C>T)
c.306C>T (p.Ile102=)
n.31C>T
c.2580C>T (p.Ile860=)
c.1551C>T (p.Ile517=)
c.1134C>T (p.Ile378=)
n.3034C>T
n.3960C>T
c.2691C>T (p.Ile897=)
c.2874C>T (p.Ile958=)
c.2679C>T (p.Ile893=)
c.2793C>T (p.Ile931=)
c.2958C>T (p.Ile986=)
c.3087C>T (p.Ile1029=)
c.2787C>T (p.Ile929=)
c.2751C>T (p.Ile917=)
c.2859C>T (p.Ile953=)
19g.10354073G>CCA403987782TYK2c.*1226C>G (n.*1226C>G)
c.2877C>G (p.Ile959Met)
n.4253C>G
n.3291C>G
c.*2428C>G (n.*2428C>G)
c.*919C>G (n.*919C>G)
n.4336C>G
n.979C>G
c.*1982C>G (n.*1982C>G)
c.83C>G
c.81C>G (p.Ile27Met)
c.2322C>G (p.Ile774Met)
c.173C>G
n.549C>G
c.-450C>G (n.-450C>G)
c.306C>G (p.Ile102Met)
n.31C>G
c.2580C>G (p.Ile860Met)
c.1551C>G (p.Ile517Met)
c.1134C>G (p.Ile378Met)
n.3034C>G
n.3960C>G
c.2691C>G (p.Ile897Met)
c.2874C>G (p.Ile958Met)
c.2679C>G (p.Ile893Met)
c.2793C>G (p.Ile931Met)
c.2958C>G (p.Ile986Met)
c.3087C>G (p.Ile1029Met)
c.2787C>G (p.Ile929Met)
c.2751C>G (p.Ile917Met)
c.2859C>G (p.Ile953Met)
 gnomAD v4
19g.10354073G>TCA505373431TYK2c.*1226C>A (n.*1226C>A)
c.2877C>A (p.Ile959=)
n.4253C>A
n.3291C>A
c.*2428C>A (n.*2428C>A)
c.*919C>A (n.*919C>A)
n.4336C>A
n.979C>A
c.*1982C>A (n.*1982C>A)
c.83C>A
c.81C>A (p.Ile27=)
c.2322C>A (p.Ile774=)
c.173C>A
n.549C>A
c.-450C>A (n.-450C>A)
c.306C>A (p.Ile102=)
n.31C>A
c.2580C>A (p.Ile860=)
c.1551C>A (p.Ile517=)
c.1134C>A (p.Ile378=)
n.3034C>A
n.3960C>A
c.2691C>A (p.Ile897=)
c.2874C>A (p.Ile958=)
c.2679C>A (p.Ile893=)
c.2793C>A (p.Ile931=)
c.2958C>A (p.Ile986=)
c.3087C>A (p.Ile1029=)
c.2787C>A (p.Ile929=)
c.2751C>A (p.Ile917=)
c.2859C>A (p.Ile953=)
 gnomAD v4
19g.10354074A>CCA403987785TYK2c.*1225T>G (n.*1225T>G)
c.2876T>G (p.Ile959Ser)
n.4252T>G
n.3290T>G
c.*2427T>G (n.*2427T>G)
c.*918T>G (n.*918T>G)
n.4335T>G
n.978T>G
c.*1981T>G (n.*1981T>G)
c.82T>G
c.80T>G (p.Ile27Ser)
c.2321T>G (p.Ile774Ser)
c.172T>G
n.548T>G
c.-451T>G (n.-451T>G)
c.305T>G (p.Ile102Ser)
n.30T>G
c.2579T>G (p.Ile860Ser)
c.1550T>G (p.Ile517Ser)
c.1133T>G (p.Ile378Ser)
n.3033T>G
n.3959T>G
c.2690T>G (p.Ile897Ser)
c.2873T>G (p.Ile958Ser)
c.2678T>G (p.Ile893Ser)
c.2792T>G (p.Ile931Ser)
c.2957T>G (p.Ile986Ser)
c.3086T>G (p.Ile1029Ser)
c.2786T>G (p.Ile929Ser)
c.2750T>G (p.Ile917Ser)
c.2858T>G (p.Ile953Ser)
19g.10354074A>GCA403987791TYK2c.*1225T>C (n.*1225T>C)
c.2876T>C (p.Ile959Thr)
n.4252T>C
n.3290T>C
c.*2427T>C (n.*2427T>C)
c.*918T>C (n.*918T>C)
n.4335T>C
n.978T>C
c.*1981T>C (n.*1981T>C)
c.82T>C
c.80T>C (p.Ile27Thr)
c.2321T>C (p.Ile774Thr)
c.172T>C
n.548T>C
c.-451T>C (n.-451T>C)
c.305T>C (p.Ile102Thr)
n.30T>C
c.2579T>C (p.Ile860Thr)
c.1550T>C (p.Ile517Thr)
c.1133T>C (p.Ile378Thr)
n.3033T>C
n.3959T>C
c.2690T>C (p.Ile897Thr)
c.2873T>C (p.Ile958Thr)
c.2678T>C (p.Ile893Thr)
c.2792T>C (p.Ile931Thr)
c.2957T>C (p.Ile986Thr)
c.3086T>C (p.Ile1029Thr)
c.2786T>C (p.Ile929Thr)
c.2750T>C (p.Ile917Thr)
c.2858T>C (p.Ile953Thr)
19g.10354074A>TCA403987794TYK2c.*1225T>A (n.*1225T>A)
c.2876T>A (p.Ile959Asn)
n.4252T>A
n.3290T>A
c.*2427T>A (n.*2427T>A)
c.*918T>A (n.*918T>A)
n.4335T>A
n.978T>A
c.*1981T>A (n.*1981T>A)
c.82T>A
c.80T>A (p.Ile27Asn)
c.2321T>A (p.Ile774Asn)
c.172T>A
n.548T>A
c.-451T>A (n.-451T>A)
c.305T>A (p.Ile102Asn)
n.30T>A
c.2579T>A (p.Ile860Asn)
c.1550T>A (p.Ile517Asn)
c.1133T>A (p.Ile378Asn)
n.3033T>A
n.3959T>A
c.2690T>A (p.Ile897Asn)
c.2873T>A (p.Ile958Asn)
c.2678T>A (p.Ile893Asn)
c.2792T>A (p.Ile931Asn)
c.2957T>A (p.Ile986Asn)
c.3086T>A (p.Ile1029Asn)
c.2786T>A (p.Ile929Asn)
c.2750T>A (p.Ile917Asn)
c.2858T>A (p.Ile953Asn)
 gnomAD v4
19g.10354075T>ACA403987797TYK2c.*1224A>T (n.*1224A>T)
c.2875A>T (p.Ile959Phe)
n.4251A>T
n.3289A>T
c.*2426A>T (n.*2426A>T)
c.*917A>T (n.*917A>T)
n.4334A>T
n.977A>T
c.*1980A>T (n.*1980A>T)
c.81A>T
c.79A>T (p.Ile27Phe)
c.2320A>T (p.Ile774Phe)
c.171A>T
n.547A>T
c.-452A>T (n.-452A>T)
c.304A>T (p.Ile102Phe)
n.29A>T
c.2578A>T (p.Ile860Phe)
c.1549A>T (p.Ile517Phe)
c.1132A>T (p.Ile378Phe)
n.3032A>T
n.3958A>T
c.2689A>T (p.Ile897Phe)
c.2872A>T (p.Ile958Phe)
c.2677A>T (p.Ile893Phe)
c.2791A>T (p.Ile931Phe)
c.2956A>T (p.Ile986Phe)
c.3085A>T (p.Ile1029Phe)
c.2785A>T (p.Ile929Phe)
c.2749A>T (p.Ile917Phe)
c.2857A>T (p.Ile953Phe)
19g.10354075T>CCA403987799TYK2c.*1224A>G (n.*1224A>G)
c.2875A>G (p.Ile959Val)
n.4251A>G
n.3289A>G
c.*2426A>G (n.*2426A>G)
c.*917A>G (n.*917A>G)
n.4334A>G
n.977A>G
c.*1980A>G (n.*1980A>G)
c.81A>G
c.79A>G (p.Ile27Val)
c.2320A>G (p.Ile774Val)
c.171A>G
n.547A>G
c.-452A>G (n.-452A>G)
c.304A>G (p.Ile102Val)
n.29A>G
c.2578A>G (p.Ile860Val)
c.1549A>G (p.Ile517Val)
c.1132A>G (p.Ile378Val)
n.3032A>G
n.3958A>G
c.2689A>G (p.Ile897Val)
c.2872A>G (p.Ile958Val)
c.2677A>G (p.Ile893Val)
c.2791A>G (p.Ile931Val)
c.2956A>G (p.Ile986Val)
c.3085A>G (p.Ile1029Val)
c.2785A>G (p.Ile929Val)
c.2749A>G (p.Ile917Val)
c.2857A>G (p.Ile953Val)
 gnomAD v4
19g.10354075T>GCA403987802TYK2c.*1224A>C (n.*1224A>C)
c.2875A>C (p.Ile959Leu)
n.4251A>C
n.3289A>C
c.*2426A>C (n.*2426A>C)
c.*917A>C (n.*917A>C)
n.4334A>C
n.977A>C
c.*1980A>C (n.*1980A>C)
c.81A>C
c.79A>C (p.Ile27Leu)
c.2320A>C (p.Ile774Leu)
c.171A>C
n.547A>C
c.-452A>C (n.-452A>C)
c.304A>C (p.Ile102Leu)
n.29A>C
c.2578A>C (p.Ile860Leu)
c.1549A>C (p.Ile517Leu)
c.1132A>C (p.Ile378Leu)
n.3032A>C
n.3958A>C
c.2689A>C (p.Ile897Leu)
c.2872A>C (p.Ile958Leu)
c.2677A>C (p.Ile893Leu)
c.2791A>C (p.Ile931Leu)
c.2956A>C (p.Ile986Leu)
c.3085A>C (p.Ile1029Leu)
c.2785A>C (p.Ile929Leu)
c.2749A>C (p.Ile917Leu)
c.2857A>C (p.Ile953Leu)
19g.10354076G>ACA505373443TYK2c.*1223C>T (n.*1223C>T)
c.2874C>T (p.His958=)
n.4250C>T
n.3288C>T
c.*2425C>T (n.*2425C>T)
c.*916C>T (n.*916C>T)
n.4333C>T
n.976C>T
c.*1979C>T (n.*1979C>T)
c.80C>T
c.78C>T (p.His26=)
c.2319C>T (p.His773=)
c.170C>T
n.546C>T
c.-453C>T (n.-453C>T)
c.303C>T (p.His101=)
n.28C>T
c.2577C>T (p.His859=)
c.1548C>T (p.His516=)
c.1131C>T (p.His377=)
n.3031C>T
n.3957C>T
c.2688C>T (p.His896=)
c.2871C>T (p.His957=)
c.2676C>T (p.His892=)
c.2790C>T (p.His930=)
c.2955C>T (p.His985=)
c.3084C>T (p.His1028=)
c.2784C>T (p.His928=)
c.2748C>T (p.His916=)
c.2856C>T (p.His952=)
19g.10354076G>CCA403987806TYK2c.*1223C>G (n.*1223C>G)
c.2874C>G (p.His958Gln)
n.4250C>G
n.3288C>G
c.*2425C>G (n.*2425C>G)
c.*916C>G (n.*916C>G)
n.4333C>G
n.976C>G
c.*1979C>G (n.*1979C>G)
c.80C>G
c.78C>G (p.His26Gln)
c.2319C>G (p.His773Gln)
c.170C>G
n.546C>G
c.-453C>G (n.-453C>G)
c.303C>G (p.His101Gln)
n.28C>G
c.2577C>G (p.His859Gln)
c.1548C>G (p.His516Gln)
c.1131C>G (p.His377Gln)
n.3031C>G
n.3957C>G
c.2688C>G (p.His896Gln)
c.2871C>G (p.His957Gln)
c.2676C>G (p.His892Gln)
c.2790C>G (p.His930Gln)
c.2955C>G (p.His985Gln)
c.3084C>G (p.His1028Gln)
c.2784C>G (p.His928Gln)
c.2748C>G (p.His916Gln)
c.2856C>G (p.His952Gln)
19g.10354076G>TCA403987809TYK2c.*1223C>A (n.*1223C>A)
c.2874C>A (p.His958Gln)
n.4250C>A
n.3288C>A
c.*2425C>A (n.*2425C>A)
c.*916C>A (n.*916C>A)
n.4333C>A
n.976C>A
c.*1979C>A (n.*1979C>A)
c.80C>A
c.78C>A (p.His26Gln)
c.2319C>A (p.His773Gln)
c.170C>A
n.546C>A
c.-453C>A (n.-453C>A)
c.303C>A (p.His101Gln)
n.28C>A
c.2577C>A (p.His859Gln)
c.1548C>A (p.His516Gln)
c.1131C>A (p.His377Gln)
n.3031C>A
n.3957C>A
c.2688C>A (p.His896Gln)
c.2871C>A (p.His957Gln)
c.2676C>A (p.His892Gln)
c.2790C>A (p.His930Gln)
c.2955C>A (p.His985Gln)
c.3084C>A (p.His1028Gln)
c.2784C>A (p.His928Gln)
c.2748C>A (p.His916Gln)
c.2856C>A (p.His952Gln)
19g.10354077T>ACA403987818TYK2c.*1222A>T (n.*1222A>T)
c.2873A>T (p.His958Leu)
n.4249A>T
n.3287A>T
c.*2424A>T (n.*2424A>T)
c.*915A>T (n.*915A>T)
n.4332A>T
n.975A>T
c.*1978A>T (n.*1978A>T)
c.79A>T
c.77A>T (p.His26Leu)
c.2318A>T (p.His773Leu)
c.169A>T
n.545A>T
c.-454A>T (n.-454A>T)
c.302A>T (p.His101Leu)
n.27A>T
c.2576A>T (p.His859Leu)
c.1547A>T (p.His516Leu)
c.1130A>T (p.His377Leu)
n.3030A>T
n.3956A>T
c.2687A>T (p.His896Leu)
c.2870A>T (p.His957Leu)
c.2675A>T (p.His892Leu)
c.2789A>T (p.His930Leu)
c.2954A>T (p.His985Leu)
c.3083A>T (p.His1028Leu)
c.2783A>T (p.His928Leu)
c.2747A>T (p.His916Leu)
c.2855A>T (p.His952Leu)
19g.10354077T>CCA403987813TYK2c.*1222A>G (n.*1222A>G)
c.2873A>G (p.His958Arg)
n.4249A>G
n.3287A>G
c.*2424A>G (n.*2424A>G)
c.*915A>G (n.*915A>G)
n.4332A>G
n.975A>G
c.*1978A>G (n.*1978A>G)
c.79A>G
c.77A>G (p.His26Arg)
c.2318A>G (p.His773Arg)
c.169A>G
n.545A>G
c.-454A>G (n.-454A>G)
c.302A>G (p.His101Arg)
n.27A>G
c.2576A>G (p.His859Arg)
c.1547A>G (p.His516Arg)
c.1130A>G (p.His377Arg)
n.3030A>G
n.3956A>G
c.2687A>G (p.His896Arg)
c.2870A>G (p.His957Arg)
c.2675A>G (p.His892Arg)
c.2789A>G (p.His930Arg)
c.2954A>G (p.His985Arg)
c.3083A>G (p.His1028Arg)
c.2783A>G (p.His928Arg)
c.2747A>G (p.His916Arg)
c.2855A>G (p.His952Arg)
19g.10354077T>GCA403987815TYK2c.*1222A>C (n.*1222A>C)
c.2873A>C (p.His958Pro)
n.4249A>C
n.3287A>C
c.*2424A>C (n.*2424A>C)
c.*915A>C (n.*915A>C)
n.4332A>C
n.975A>C
c.*1978A>C (n.*1978A>C)
c.79A>C
c.77A>C (p.His26Pro)
c.2318A>C (p.His773Pro)
c.169A>C
n.545A>C
c.-454A>C (n.-454A>C)
c.302A>C (p.His101Pro)
n.27A>C
c.2576A>C (p.His859Pro)
c.1547A>C (p.His516Pro)
c.1130A>C (p.His377Pro)
n.3030A>C
n.3956A>C
c.2687A>C (p.His896Pro)
c.2870A>C (p.His957Pro)
c.2675A>C (p.His892Pro)
c.2789A>C (p.His930Pro)
c.2954A>C (p.His985Pro)
c.3083A>C (p.His1028Pro)
c.2783A>C (p.His928Pro)
c.2747A>C (p.His916Pro)
c.2855A>C (p.His952Pro)
19g.10354077T=CA2322387990TYK2c.*1222A= (n.*1222A=)
c.2873A= (p.His958=)
n.4249A=
n.3287A=
c.*2424A= (n.*2424A=)
c.*915A= (n.*915A=)
n.4332A=
n.975A=
c.*1978A= (n.*1978A=)
c.79A=
c.77A= (p.His26=)
c.2318A= (p.His773=)
c.169A=
n.545A=
c.-454A= (n.-454A=)
c.302A= (p.His101=)
n.27A=
c.2576A= (p.His859=)
c.1547A= (p.His516=)
c.1130A= (p.His377=)
n.3030A=
n.3956A=
c.2687A= (p.His896=)
c.2870A= (p.His957=)
c.2675A= (p.His892=)
c.2789A= (p.His930=)
c.2954A= (p.His985=)
c.3083A= (p.His1028=)
c.2783A= (p.His928=)
c.2747A= (p.His916=)
c.2855A= (p.His952=)
19g.10354078G>ACA403987823TYK2c.*1221C>T (n.*1221C>T)
c.2872C>T (p.His958Tyr)
n.4248C>T
n.3286C>T
c.*2423C>T (n.*2423C>T)
c.*914C>T (n.*914C>T)
n.4331C>T
n.974C>T
c.*1977C>T (n.*1977C>T)
c.78C>T
c.76C>T (p.His26Tyr)
c.2317C>T (p.His773Tyr)
c.168C>T
n.544C>T
c.-455C>T (n.-455C>T)
c.301C>T (p.His101Tyr)
n.26C>T
c.2575C>T (p.His859Tyr)
c.1546C>T (p.His516Tyr)
c.1129C>T (p.His377Tyr)
n.3029C>T
n.3955C>T
c.2686C>T (p.His896Tyr)
c.2869C>T (p.His957Tyr)
c.2674C>T (p.His892Tyr)
c.2788C>T (p.His930Tyr)
c.2953C>T (p.His985Tyr)
c.3082C>T (p.His1028Tyr)
c.2782C>T (p.His928Tyr)
c.2746C>T (p.His916Tyr)
c.2854C>T (p.His952Tyr)
19g.10354078G>CCA403987827TYK2c.*1221C>G (n.*1221C>G)
c.2872C>G (p.His958Asp)
n.4248C>G
n.3286C>G
c.*2423C>G (n.*2423C>G)
c.*914C>G (n.*914C>G)
n.4331C>G
n.974C>G
c.*1977C>G (n.*1977C>G)
c.78C>G
c.76C>G (p.His26Asp)
c.2317C>G (p.His773Asp)
c.168C>G
n.544C>G
c.-455C>G (n.-455C>G)
c.301C>G (p.His101Asp)
n.26C>G
c.2575C>G (p.His859Asp)
c.1546C>G (p.His516Asp)
c.1129C>G (p.His377Asp)
n.3029C>G
n.3955C>G
c.2686C>G (p.His896Asp)
c.2869C>G (p.His957Asp)
c.2674C>G (p.His892Asp)
c.2788C>G (p.His930Asp)
c.2953C>G (p.His985Asp)
c.3082C>G (p.His1028Asp)
c.2782C>G (p.His928Asp)
c.2746C>G (p.His916Asp)
c.2854C>G (p.His952Asp)
19g.10354078G>TCA403987830TYK2c.*1221C>A (n.*1221C>A)
c.2872C>A (p.His958Asn)
n.4248C>A
n.3286C>A
c.*2423C>A (n.*2423C>A)
c.*914C>A (n.*914C>A)
n.4331C>A
n.974C>A
c.*1977C>A (n.*1977C>A)
c.78C>A
c.76C>A (p.His26Asn)
c.2317C>A (p.His773Asn)
c.168C>A
n.544C>A
c.-455C>A (n.-455C>A)
c.301C>A (p.His101Asn)
n.26C>A
c.2575C>A (p.His859Asn)
c.1546C>A (p.His516Asn)
c.1129C>A (p.His377Asn)
n.3029C>A
n.3955C>A
c.2686C>A (p.His896Asn)
c.2869C>A (p.His957Asn)
c.2674C>A (p.His892Asn)
c.2788C>A (p.His930Asn)
c.2953C>A (p.His985Asn)
c.3082C>A (p.His1028Asn)
c.2782C>A (p.His928Asn)
c.2746C>A (p.His916Asn)
c.2854C>A (p.His952Asn)
19g.10354078dupCA2322387991TYK2c.*1221dup (n.*1221dup)
c.2872dup (p.His958ProfsTer?)
c.2872dup (p.His958ProfsTer28)
n.4248dup
n.3286dup
c.*2423dup (n.*2423dup)
c.*914dup (n.*914dup)
n.4331dup
n.974dup
c.*1977dup (n.*1977dup)
c.78dup
c.76dup (p.His26ProfsTer?)
c.2317dup (p.His773ProfsTer?)
c.168dup
n.544dup
c.-455dup (n.-455dup)
c.301dup (p.His101ProfsTer18)
n.26dup
c.2575dup (p.His859ProfsTer?)
c.1546dup (p.His516ProfsTer?)
c.1129dup (p.His377ProfsTer?)
n.3029dup
n.3955dup
c.2686dup (p.His896ProfsTer?)
c.2869dup (p.His957ProfsTer?)
c.2674dup (p.His892ProfsTer?)
c.2788dup (p.His930ProfsTer?)
c.2953dup (p.His985ProfsTer?)
c.3082dup (p.His1028ProfsTer?)
c.2782dup (p.His928ProfsTer?)
c.2746dup (p.His916ProfsTer?)
c.2854dup (p.His952ProfsTer?)
 dbSNP
19g.10354079C>ACA403987837TYK2c.*1220G>T (n.*1220G>T)
c.2871G>T (p.Glu957Asp)
n.4247G>T
n.3285G>T
c.*2422G>T (n.*2422G>T)
c.*913G>T (n.*913G>T)
n.4330G>T
n.973G>T
c.*1976G>T (n.*1976G>T)
c.77G>T
c.75G>T (p.Glu25Asp)
c.2316G>T (p.Glu772Asp)
c.167G>T
n.543G>T
c.300G>T (p.Glu100Asp)
n.25G>T
c.2574G>T (p.Glu858Asp)
c.1545G>T (p.Glu515Asp)
c.1128G>T (p.Glu376Asp)
n.3028G>T
n.3954G>T
c.2685G>T (p.Glu895Asp)
c.2868G>T (p.Glu956Asp)
c.2673G>T (p.Glu891Asp)
c.2787G>T (p.Glu929Asp)
c.2952G>T (p.Glu984Asp)
c.3081G>T (p.Glu1027Asp)
c.2781G>T (p.Glu927Asp)
c.2745G>T (p.Glu915Asp)
c.2853G>T (p.Glu951Asp)
19g.10354079C=CA2322387992TYK2c.*1220G= (n.*1220G=)
c.2871G= (p.Glu957=)
n.4247G=
n.3285G=
c.*2422G= (n.*2422G=)
c.*913G= (n.*913G=)
n.4330G=
n.973G=
c.*1976G= (n.*1976G=)
c.77G=
c.75G= (p.Glu25=)
c.2316G= (p.Glu772=)
c.167G=
n.543G=
c.300G= (p.Glu100=)
n.25G=
c.2574G= (p.Glu858=)
c.1545G= (p.Glu515=)
c.1128G= (p.Glu376=)
n.3028G=
n.3954G=
c.2685G= (p.Glu895=)
c.2868G= (p.Glu956=)
c.2673G= (p.Glu891=)
c.2787G= (p.Glu929=)
c.2952G= (p.Glu984=)
c.3081G= (p.Glu1027=)
c.2781G= (p.Glu927=)
c.2745G= (p.Glu915=)
c.2853G= (p.Glu951=)
19g.10354079C>GCA403987841TYK2c.*1220G>C (n.*1220G>C)
c.2871G>C (p.Glu957Asp)
n.4247G>C
n.3285G>C
c.*2422G>C (n.*2422G>C)
c.*913G>C (n.*913G>C)
n.4330G>C
n.973G>C
c.*1976G>C (n.*1976G>C)
c.77G>C
c.75G>C (p.Glu25Asp)
c.2316G>C (p.Glu772Asp)
c.167G>C
n.543G>C
c.300G>C (p.Glu100Asp)
n.25G>C
c.2574G>C (p.Glu858Asp)
c.1545G>C (p.Glu515Asp)
c.1128G>C (p.Glu376Asp)
n.3028G>C
n.3954G>C
c.2685G>C (p.Glu895Asp)
c.2868G>C (p.Glu956Asp)
c.2673G>C (p.Glu891Asp)
c.2787G>C (p.Glu929Asp)
c.2952G>C (p.Glu984Asp)
c.3081G>C (p.Glu1027Asp)
c.2781G>C (p.Glu927Asp)
c.2745G>C (p.Glu915Asp)
c.2853G>C (p.Glu951Asp)
19g.10354079C>TCA9192905TYK2c.*1220G>A (n.*1220G>A)
c.2871G>A (p.Glu957=)
n.4247G>A
n.3285G>A
c.*2422G>A (n.*2422G>A)
c.*913G>A (n.*913G>A)
n.4330G>A
n.973G>A
c.*1976G>A (n.*1976G>A)
c.77G>A
c.75G>A (p.Glu25=)
c.2316G>A (p.Glu772=)
c.167G>A
n.543G>A
c.300G>A (p.Glu100=)
n.25G>A
c.2574G>A (p.Glu858=)
c.1545G>A (p.Glu515=)
c.1128G>A (p.Glu376=)
n.3028G>A
n.3954G>A
c.2685G>A (p.Glu895=)
c.2868G>A (p.Glu956=)
c.2673G>A (p.Glu891=)
c.2787G>A (p.Glu929=)
c.2952G>A (p.Glu984=)
c.3081G>A (p.Glu1027=)
c.2781G>A (p.Glu927=)
c.2745G>A (p.Glu915=)
c.2853G>A (p.Glu951=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354080T>ACA403987842TYK2c.*1219A>T (n.*1219A>T)
c.2870A>T (p.Glu957Val)
n.4246A>T
n.3284A>T
c.*2421A>T (n.*2421A>T)
c.*912A>T (n.*912A>T)
n.4329A>T
n.972A>T
c.*1975A>T (n.*1975A>T)
c.76A>T
c.74A>T (p.Glu25Val)
c.2315A>T (p.Glu772Val)
c.166A>T
n.542A>T
c.299A>T (p.Glu100Val)
n.24A>T
c.2573A>T (p.Glu858Val)
c.1544A>T (p.Glu515Val)
c.1127A>T (p.Glu376Val)
n.3027A>T
n.3953A>T
c.2684A>T (p.Glu895Val)
c.2867A>T (p.Glu956Val)
c.2672A>T (p.Glu891Val)
c.2786A>T (p.Glu929Val)
c.2951A>T (p.Glu984Val)
c.3080A>T (p.Glu1027Val)
c.2780A>T (p.Glu927Val)
c.2744A>T (p.Glu915Val)
c.2852A>T (p.Glu951Val)
19g.10354080T>CCA403987844TYK2c.*1219A>G (n.*1219A>G)
c.2870A>G (p.Glu957Gly)
n.4246A>G
n.3284A>G
c.*2421A>G (n.*2421A>G)
c.*912A>G (n.*912A>G)
n.4329A>G
n.972A>G
c.*1975A>G (n.*1975A>G)
c.76A>G
c.74A>G (p.Glu25Gly)
c.2315A>G (p.Glu772Gly)
c.166A>G
n.542A>G
c.299A>G (p.Glu100Gly)
n.24A>G
c.2573A>G (p.Glu858Gly)
c.1544A>G (p.Glu515Gly)
c.1127A>G (p.Glu376Gly)
n.3027A>G
n.3953A>G
c.2684A>G (p.Glu895Gly)
c.2867A>G (p.Glu956Gly)
c.2672A>G (p.Glu891Gly)
c.2786A>G (p.Glu929Gly)
c.2951A>G (p.Glu984Gly)
c.3080A>G (p.Glu1027Gly)
c.2780A>G (p.Glu927Gly)
c.2744A>G (p.Glu915Gly)
c.2852A>G (p.Glu951Gly)
19g.10354080T>GCA403987846TYK2c.*1219A>C (n.*1219A>C)
c.2870A>C (p.Glu957Ala)
n.4246A>C
n.3284A>C
c.*2421A>C (n.*2421A>C)
c.*912A>C (n.*912A>C)
n.4329A>C
n.972A>C
c.*1975A>C (n.*1975A>C)
c.76A>C
c.74A>C (p.Glu25Ala)
c.2315A>C (p.Glu772Ala)
c.166A>C
n.542A>C
c.299A>C (p.Glu100Ala)
n.24A>C
c.2573A>C (p.Glu858Ala)
c.1544A>C (p.Glu515Ala)
c.1127A>C (p.Glu376Ala)
n.3027A>C
n.3953A>C
c.2684A>C (p.Glu895Ala)
c.2867A>C (p.Glu956Ala)
c.2672A>C (p.Glu891Ala)
c.2786A>C (p.Glu929Ala)
c.2951A>C (p.Glu984Ala)
c.3080A>C (p.Glu1027Ala)
c.2780A>C (p.Glu927Ala)
c.2744A>C (p.Glu915Ala)
c.2852A>C (p.Glu951Ala)
19g.10354081C>ACA403987847TYK2c.*1218G>T (n.*1218G>T)
c.2869G>T (p.Glu957Ter)
n.4245G>T
n.3283G>T
c.*2420G>T (n.*2420G>T)
c.*911G>T (n.*911G>T)
n.4328G>T
n.971G>T
c.*1974G>T (n.*1974G>T)
c.75G>T
c.73G>T (p.Glu25Ter)
c.2314G>T (p.Glu772Ter)
c.165G>T
n.541G>T
c.298G>T (p.Glu100Ter)
n.23G>T
c.2572G>T (p.Glu858Ter)
c.1543G>T (p.Glu515Ter)
c.1126G>T (p.Glu376Ter)
n.3026G>T
n.3952G>T
c.2683G>T (p.Glu895Ter)
c.2866G>T (p.Glu956Ter)
c.2671G>T (p.Glu891Ter)
c.2785G>T (p.Glu929Ter)
c.2950G>T (p.Glu984Ter)
c.3079G>T (p.Glu1027Ter)
c.2779G>T (p.Glu927Ter)
c.2743G>T (p.Glu915Ter)
c.2851G>T (p.Glu951Ter)
 gnomAD v4 COSMIC
19g.10354081C=CA2322387993TYK2c.*1218G= (n.*1218G=)
c.2869G= (p.Glu957=)
n.4245G=
n.3283G=
c.*2420G= (n.*2420G=)
c.*911G= (n.*911G=)
n.4328G=
n.971G=
c.*1974G= (n.*1974G=)
c.75G=
c.73G= (p.Glu25=)
c.2314G= (p.Glu772=)
c.165G=
n.541G=
c.298G= (p.Glu100=)
n.23G=
c.2572G= (p.Glu858=)
c.1543G= (p.Glu515=)
c.1126G= (p.Glu376=)
n.3026G=
n.3952G=
c.2683G= (p.Glu895=)
c.2866G= (p.Glu956=)
c.2671G= (p.Glu891=)
c.2785G= (p.Glu929=)
c.2950G= (p.Glu984=)
c.3079G= (p.Glu1027=)
c.2779G= (p.Glu927=)
c.2743G= (p.Glu915=)
c.2851G= (p.Glu951=)
19g.10354081C>GCA403987848TYK2c.*1218G>C (n.*1218G>C)
c.2869G>C (p.Glu957Gln)
n.4245G>C
n.3283G>C
c.*2420G>C (n.*2420G>C)
c.*911G>C (n.*911G>C)
n.4328G>C
n.971G>C
c.*1974G>C (n.*1974G>C)
c.75G>C
c.73G>C (p.Glu25Gln)
c.2314G>C (p.Glu772Gln)
c.165G>C
n.541G>C
c.298G>C (p.Glu100Gln)
n.23G>C
c.2572G>C (p.Glu858Gln)
c.1543G>C (p.Glu515Gln)
c.1126G>C (p.Glu376Gln)
n.3026G>C
n.3952G>C
c.2683G>C (p.Glu895Gln)
c.2866G>C (p.Glu956Gln)
c.2671G>C (p.Glu891Gln)
c.2785G>C (p.Glu929Gln)
c.2950G>C (p.Glu984Gln)
c.3079G>C (p.Glu1027Gln)
c.2779G>C (p.Glu927Gln)
c.2743G>C (p.Glu915Gln)
c.2851G>C (p.Glu951Gln)
19g.10354081C>TCA9192906TYK2c.*1218G>A (n.*1218G>A)
c.2869G>A (p.Glu957Lys)
n.4245G>A
n.3283G>A
c.*2420G>A (n.*2420G>A)
c.*911G>A (n.*911G>A)
n.4328G>A
n.971G>A
c.*1974G>A (n.*1974G>A)
c.75G>A
c.73G>A (p.Glu25Lys)
c.2314G>A (p.Glu772Lys)
c.165G>A
n.541G>A
c.298G>A (p.Glu100Lys)
n.23G>A
c.2572G>A (p.Glu858Lys)
c.1543G>A (p.Glu515Lys)
c.1126G>A (p.Glu376Lys)
n.3026G>A
n.3952G>A
c.2683G>A (p.Glu895Lys)
c.2866G>A (p.Glu956Lys)
c.2671G>A (p.Glu891Lys)
c.2785G>A (p.Glu929Lys)
c.2950G>A (p.Glu984Lys)
c.3079G>A (p.Glu1027Lys)
c.2779G>A (p.Glu927Lys)
c.2743G>A (p.Glu915Lys)
c.2851G>A (p.Glu951Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354081_10354083delinsCGTCA2322387994TYK2c.*1216_*1218delinsACG (n.*1216_*1218delinsACG)
c.2867_2869delinsACG (p.His956=)
n.4243_4245delinsACG
n.3281_3283delinsACG
c.*2418_*2420delinsACG (n.*2418_*2420delinsACG)
c.*909_*911delinsACG (n.*909_*911delinsACG)
n.4326_4328delinsACG
n.969_971delinsACG
c.*1972_*1974delinsACG (n.*1972_*1974delinsACG)
c.73_75delinsACG
c.71_73delinsACG (p.His24=)
c.2312_2314delinsACG (p.His771=)
c.163_165delinsACG
n.539_541delinsACG
c.296_298delinsACG (p.His99=)
n.21_23delinsACG
c.2570_2572delinsACG (p.His857=)
c.1541_1543delinsACG (p.His514=)
c.1124_1126delinsACG (p.His375=)
n.3024_3026delinsACG
n.3950_3952delinsACG
c.2681_2683delinsACG (p.His894=)
c.2864_2866delinsACG (p.His955=)
c.2669_2671delinsACG (p.His890=)
c.2783_2785delinsACG (p.His928=)
c.2948_2950delinsACG (p.His983=)
c.3077_3079delinsACG (p.His1026=)
c.2777_2779delinsACG (p.His926=)
c.2741_2743delinsACG (p.His914=)
c.2849_2851delinsACG (p.His950=)
19g.10354081_10354082insTTGGATAATAATGACA2514329693TYK2c.*1217_*1218insTCATTATTATCCAA (n.*1217_*1218insTCATTATTATCCAA)
c.2868_2869insTCATTATTATCCAA (p.Glu957SerfsTer?)
n.4244_4245insTCATTATTATCCAA
n.3282_3283insTCATTATTATCCAA
c.*2419_*2420insTCATTATTATCCAA (n.*2419_*2420insTCATTATTATCCAA)
c.*910_*911insTCATTATTATCCAA (n.*910_*911insTCATTATTATCCAA)
n.4327_4328insTCATTATTATCCAA
n.970_971insTCATTATTATCCAA
c.*1973_*1974insTCATTATTATCCAA (n.*1973_*1974insTCATTATTATCCAA)
c.74_75insTCATTATTATCCAA
c.72_73insTCATTATTATCCAA (p.Glu25SerfsTer?)
c.2313_2314insTCATTATTATCCAA (p.Glu772SerfsTer?)
c.164_165insTCATTATTATCCAA
n.540_541insTCATTATTATCCAA
c.297_298insTCATTATTATCCAA (p.Glu100SerfsTer?)
n.22_23insTCATTATTATCCAA
c.2571_2572insTCATTATTATCCAA (p.Glu858SerfsTer?)
c.1542_1543insTCATTATTATCCAA (p.Glu515SerfsTer?)
c.1125_1126insTCATTATTATCCAA (p.Glu376SerfsTer?)
n.3025_3026insTCATTATTATCCAA
n.3951_3952insTCATTATTATCCAA
c.2682_2683insTCATTATTATCCAA (p.Glu895SerfsTer?)
c.2865_2866insTCATTATTATCCAA (p.Glu956SerfsTer?)
c.2670_2671insTCATTATTATCCAA (p.Glu891SerfsTer?)
c.2784_2785insTCATTATTATCCAA (p.Glu929SerfsTer?)
c.2949_2950insTCATTATTATCCAA (p.Glu984SerfsTer?)
c.3078_3079insTCATTATTATCCAA (p.Glu1027SerfsTer?)
c.2778_2779insTCATTATTATCCAA (p.Glu927SerfsTer?)
c.2742_2743insTCATTATTATCCAA (p.Glu915SerfsTer?)
c.2850_2851insTCATTATTATCCAA (p.Glu951SerfsTer?)
19g.10354082G>ACA505373472TYK2c.*1217C>T (n.*1217C>T)
c.2868C>T (p.His956=)
n.4244C>T
n.3282C>T
c.*2419C>T (n.*2419C>T)
c.*910C>T (n.*910C>T)
n.4327C>T
n.970C>T
c.*1973C>T (n.*1973C>T)
c.74C>T
c.72C>T (p.His24=)
c.2313C>T (p.His771=)
c.164C>T
n.540C>T
c.297C>T (p.His99=)
n.22C>T
c.2571C>T (p.His857=)
c.1542C>T (p.His514=)
c.1125C>T (p.His375=)
n.3025C>T
n.3951C>T
c.2682C>T (p.His894=)
c.2865C>T (p.His955=)
c.2670C>T (p.His890=)
c.2784C>T (p.His928=)
c.2949C>T (p.His983=)
c.3078C>T (p.His1026=)
c.2778C>T (p.His926=)
c.2742C>T (p.His914=)
c.2850C>T (p.His950=)
 ClinVar gnomAD v4
19g.10354082G>CCA403987851TYK2c.*1217C>G (n.*1217C>G)
c.2868C>G (p.His956Gln)
n.4244C>G
n.3282C>G
c.*2419C>G (n.*2419C>G)
c.*910C>G (n.*910C>G)
n.4327C>G
n.970C>G
c.*1973C>G (n.*1973C>G)
c.74C>G
c.72C>G (p.His24Gln)
c.2313C>G (p.His771Gln)
c.164C>G
n.540C>G
c.297C>G (p.His99Gln)
n.22C>G
c.2571C>G (p.His857Gln)
c.1542C>G (p.His514Gln)
c.1125C>G (p.His375Gln)
n.3025C>G
n.3951C>G
c.2682C>G (p.His894Gln)
c.2865C>G (p.His955Gln)
c.2670C>G (p.His890Gln)
c.2784C>G (p.His928Gln)
c.2949C>G (p.His983Gln)
c.3078C>G (p.His1026Gln)
c.2778C>G (p.His926Gln)
c.2742C>G (p.His914Gln)
c.2850C>G (p.His950Gln)
 dbSNP gnomAD v4
19g.10354082G=CA2322387995TYK2c.*1217C= (n.*1217C=)
c.2868C= (p.His956=)
n.4244C=
n.3282C=
c.*2419C= (n.*2419C=)
c.*910C= (n.*910C=)
n.4327C=
n.970C=
c.*1973C= (n.*1973C=)
c.74C=
c.72C= (p.His24=)
c.2313C= (p.His771=)
c.164C=
n.540C=
c.297C= (p.His99=)
n.22C=
c.2571C= (p.His857=)
c.1542C= (p.His514=)
c.1125C= (p.His375=)
n.3025C=
n.3951C=
c.2682C= (p.His894=)
c.2865C= (p.His955=)
c.2670C= (p.His890=)
c.2784C= (p.His928=)
c.2949C= (p.His983=)
c.3078C= (p.His1026=)
c.2778C= (p.His926=)
c.2742C= (p.His914=)
c.2850C= (p.His950=)
19g.10354082G>TCA9192907TYK2c.*1217C>A (n.*1217C>A)
c.2868C>A (p.His956Gln)
n.4244C>A
n.3282C>A
c.*2419C>A (n.*2419C>A)
c.*910C>A (n.*910C>A)
n.4327C>A
n.970C>A
c.*1973C>A (n.*1973C>A)
c.74C>A
c.72C>A (p.His24Gln)
c.2313C>A (p.His771Gln)
c.164C>A
n.540C>A
c.297C>A (p.His99Gln)
n.22C>A
c.2571C>A (p.His857Gln)
c.1542C>A (p.His514Gln)
c.1125C>A (p.His375Gln)
n.3025C>A
n.3951C>A
c.2682C>A (p.His894Gln)
c.2865C>A (p.His955Gln)
c.2670C>A (p.His890Gln)
c.2784C>A (p.His928Gln)
c.2949C>A (p.His983Gln)
c.3078C>A (p.His1026Gln)
c.2778C>A (p.His926Gln)
c.2742C>A (p.His914Gln)
c.2850C>A (p.His950Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354083_10354084delCA631997800TYK2c.*1216_*1217del (n.*1216_*1217del)
c.2867_2868del (p.His956ArgfsTer?)
c.2867_2868del (p.His956ArgfsTer29)
n.4243_4244del
n.3281_3282del
c.*2418_*2419del (n.*2418_*2419del)
c.*909_*910del (n.*909_*910del)
n.4326_4327del
n.969_970del
c.*1972_*1973del (n.*1972_*1973del)
c.73_74del
c.71_72del (p.His24ArgfsTer?)
c.2312_2313del (p.His771ArgfsTer?)
c.163_164del
n.539_540del
c.296_297del (p.His99ArgfsTer19)
n.21_22del
c.2570_2571del (p.His857ArgfsTer?)
c.1541_1542del (p.His514ArgfsTer?)
c.1124_1125del (p.His375ArgfsTer?)
n.3024_3025del
n.3950_3951del
c.2681_2682del (p.His894ArgfsTer?)
c.2864_2865del (p.His955ArgfsTer?)
c.2669_2670del (p.His890ArgfsTer?)
c.2783_2784del (p.His928ArgfsTer?)
c.2948_2949del (p.His983ArgfsTer?)
c.3077_3078del (p.His1026ArgfsTer?)
c.2777_2778del (p.His926ArgfsTer?)
c.2741_2742del (p.His914ArgfsTer?)
c.2849_2850del (p.His950ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.10354083T>ACA403987857TYK2c.*1216A>T (n.*1216A>T)
c.2867A>T (p.His956Leu)
n.4243A>T
n.3281A>T
c.*2418A>T (n.*2418A>T)
c.*909A>T (n.*909A>T)
n.4326A>T
n.969A>T
c.*1972A>T (n.*1972A>T)
c.73A>T
c.71A>T (p.His24Leu)
c.2312A>T (p.His771Leu)
c.163A>T
n.539A>T
c.296A>T (p.His99Leu)
n.21A>T
c.2570A>T (p.His857Leu)
c.1541A>T (p.His514Leu)
c.1124A>T (p.His375Leu)
n.3024A>T
n.3950A>T
c.2681A>T (p.His894Leu)
c.2864A>T (p.His955Leu)
c.2669A>T (p.His890Leu)
c.2783A>T (p.His928Leu)
c.2948A>T (p.His983Leu)
c.3077A>T (p.His1026Leu)
c.2777A>T (p.His926Leu)
c.2741A>T (p.His914Leu)
c.2849A>T (p.His950Leu)
19g.10354083T>CCA9192908TYK2c.*1216A>G (n.*1216A>G)
c.2867A>G (p.His956Arg)
n.4243A>G
n.3281A>G
c.*2418A>G (n.*2418A>G)
c.*909A>G (n.*909A>G)
n.4326A>G
n.969A>G
c.*1972A>G (n.*1972A>G)
c.73A>G
c.71A>G (p.His24Arg)
c.2312A>G (p.His771Arg)
c.163A>G
n.539A>G
c.296A>G (p.His99Arg)
n.21A>G
c.2570A>G (p.His857Arg)
c.1541A>G (p.His514Arg)
c.1124A>G (p.His375Arg)
n.3024A>G
n.3950A>G
c.2681A>G (p.His894Arg)
c.2864A>G (p.His955Arg)
c.2669A>G (p.His890Arg)
c.2783A>G (p.His928Arg)
c.2948A>G (p.His983Arg)
c.3077A>G (p.His1026Arg)
c.2777A>G (p.His926Arg)
c.2741A>G (p.His914Arg)
c.2849A>G (p.His950Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10354083T>GCA403987861TYK2c.*1216A>C (n.*1216A>C)
c.2867A>C (p.His956Pro)
n.4243A>C
n.3281A>C
c.*2418A>C (n.*2418A>C)
c.*909A>C (n.*909A>C)
n.4326A>C
n.969A>C
c.*1972A>C (n.*1972A>C)
c.73A>C
c.71A>C (p.His24Pro)
c.2312A>C (p.His771Pro)
c.163A>C
n.539A>C
c.296A>C (p.His99Pro)
n.21A>C
c.2570A>C (p.His857Pro)
c.1541A>C (p.His514Pro)
c.1124A>C (p.His375Pro)
n.3024A>C
n.3950A>C
c.2681A>C (p.His894Pro)
c.2864A>C (p.His955Pro)
c.2669A>C (p.His890Pro)
c.2783A>C (p.His928Pro)
c.2948A>C (p.His983Pro)
c.3077A>C (p.His1026Pro)
c.2777A>C (p.His926Pro)
c.2741A>C (p.His914Pro)
c.2849A>C (p.His950Pro)
19g.10354083T=CA2322387996TYK2c.*1216A= (n.*1216A=)
c.2867A= (p.His956=)
n.4243A=
n.3281A=
c.*2418A= (n.*2418A=)
c.*909A= (n.*909A=)
n.4326A=
n.969A=
c.*1972A= (n.*1972A=)
c.73A=
c.71A= (p.His24=)
c.2312A= (p.His771=)
c.163A=
n.539A=
c.296A= (p.His99=)
n.21A=
c.2570A= (p.His857=)
c.1541A= (p.His514=)
c.1124A= (p.His375=)
n.3024A=
n.3950A=
c.2681A= (p.His894=)
c.2864A= (p.His955=)
c.2669A= (p.His890=)
c.2783A= (p.His928=)
c.2948A= (p.His983=)
c.3077A= (p.His1026=)
c.2777A= (p.His926=)
c.2741A= (p.His914=)
c.2849A= (p.His950=)
19g.10354084G>ACA403987865TYK2c.*1215C>T (n.*1215C>T)
c.2866C>T (p.His956Tyr)
n.4242C>T
n.3280C>T
c.*2417C>T (n.*2417C>T)
c.*908C>T (n.*908C>T)
n.4325C>T
n.968C>T
c.*1971C>T (n.*1971C>T)
c.72C>T
c.70C>T (p.His24Tyr)
c.2311C>T (p.His771Tyr)
c.162C>T
n.538C>T
c.295C>T (p.His99Tyr)
n.20C>T
c.2569C>T (p.His857Tyr)
c.1540C>T (p.His514Tyr)
c.1123C>T (p.His375Tyr)
n.3023C>T
n.3949C>T
c.2680C>T (p.His894Tyr)
c.2863C>T (p.His955Tyr)
c.2668C>T (p.His890Tyr)
c.2782C>T (p.His928Tyr)
c.2947C>T (p.His983Tyr)
c.3076C>T (p.His1026Tyr)
c.2776C>T (p.His926Tyr)
c.2740C>T (p.His914Tyr)
c.2848C>T (p.His950Tyr)
19g.10354084G>CCA403987867TYK2c.*1215C>G (n.*1215C>G)
c.2866C>G (p.His956Asp)
n.4242C>G
n.3280C>G
c.*2417C>G (n.*2417C>G)
c.*908C>G (n.*908C>G)
n.4325C>G
n.968C>G
c.*1971C>G (n.*1971C>G)
c.72C>G
c.70C>G (p.His24Asp)
c.2311C>G (p.His771Asp)
c.162C>G
n.538C>G
c.295C>G (p.His99Asp)
n.20C>G
c.2569C>G (p.His857Asp)
c.1540C>G (p.His514Asp)
c.1123C>G (p.His375Asp)
n.3023C>G
n.3949C>G
c.2680C>G (p.His894Asp)
c.2863C>G (p.His955Asp)
c.2668C>G (p.His890Asp)
c.2782C>G (p.His928Asp)
c.2947C>G (p.His983Asp)
c.3076C>G (p.His1026Asp)
c.2776C>G (p.His926Asp)
c.2740C>G (p.His914Asp)
c.2848C>G (p.His950Asp)
 gnomAD v4
19g.10354084G>TCA403987871TYK2c.*1215C>A (n.*1215C>A)
c.2866C>A (p.His956Asn)
n.4242C>A
n.3280C>A
c.*2417C>A (n.*2417C>A)
c.*908C>A (n.*908C>A)
n.4325C>A
n.968C>A
c.*1971C>A (n.*1971C>A)
c.72C>A
c.70C>A (p.His24Asn)
c.2311C>A (p.His771Asn)
c.162C>A
n.538C>A
c.295C>A (p.His99Asn)
n.20C>A
c.2569C>A (p.His857Asn)
c.1540C>A (p.His514Asn)
c.1123C>A (p.His375Asn)
n.3023C>A
n.3949C>A
c.2680C>A (p.His894Asn)
c.2863C>A (p.His955Asn)
c.2668C>A (p.His890Asn)
c.2782C>A (p.His928Asn)
c.2947C>A (p.His983Asn)
c.3076C>A (p.His1026Asn)
c.2776C>A (p.His926Asn)
c.2740C>A (p.His914Asn)
c.2848C>A (p.His950Asn)
19g.10354085G>ACA505373486TYK2c.*1214C>T (n.*1214C>T)
c.2865C>T (p.Tyr955=)
n.4241C>T
n.3279C>T
c.*2416C>T (n.*2416C>T)
c.*907C>T (n.*907C>T)
n.4324C>T
n.967C>T
c.*1970C>T (n.*1970C>T)
c.71C>T
c.69C>T (p.Tyr23=)
c.2310C>T (p.Tyr770=)
c.161C>T
n.537C>T
c.294C>T (p.Tyr98=)
n.19C>T
c.2568C>T (p.Tyr856=)
c.1539C>T (p.Tyr513=)
c.1122C>T (p.Tyr374=)
n.3022C>T
n.3948C>T
c.2679C>T (p.Tyr893=)
c.2862C>T (p.Tyr954=)
c.2667C>T (p.Tyr889=)
c.2781C>T (p.Tyr927=)
c.2946C>T (p.Tyr982=)
c.3075C>T (p.Tyr1025=)
c.2775C>T (p.Tyr925=)
c.2739C>T (p.Tyr913=)
c.2847C>T (p.Tyr949=)
 gnomAD v4
19g.10354085G>CCA403987878TYK2c.*1214C>G (n.*1214C>G)
c.2865C>G (p.Tyr955Ter)
n.4241C>G
n.3279C>G
c.*2416C>G (n.*2416C>G)
c.*907C>G (n.*907C>G)
n.4324C>G
n.967C>G
c.*1970C>G (n.*1970C>G)
c.71C>G
c.69C>G (p.Tyr23Ter)
c.2310C>G (p.Tyr770Ter)
c.161C>G
n.537C>G
c.294C>G (p.Tyr98Ter)
n.19C>G
c.2568C>G (p.Tyr856Ter)
c.1539C>G (p.Tyr513Ter)
c.1122C>G (p.Tyr374Ter)
n.3022C>G
n.3948C>G
c.2679C>G (p.Tyr893Ter)
c.2862C>G (p.Tyr954Ter)
c.2667C>G (p.Tyr889Ter)
c.2781C>G (p.Tyr927Ter)
c.2946C>G (p.Tyr982Ter)
c.3075C>G (p.Tyr1025Ter)
c.2775C>G (p.Tyr925Ter)
c.2739C>G (p.Tyr913Ter)
c.2847C>G (p.Tyr949Ter)
19g.10354085G>TCA403987874TYK2c.*1214C>A (n.*1214C>A)
c.2865C>A (p.Tyr955Ter)
n.4241C>A
n.3279C>A
c.*2416C>A (n.*2416C>A)
c.*907C>A (n.*907C>A)
n.4324C>A
n.967C>A
c.*1970C>A (n.*1970C>A)
c.71C>A
c.69C>A (p.Tyr23Ter)
c.2310C>A (p.Tyr770Ter)
c.161C>A
n.537C>A
c.294C>A (p.Tyr98Ter)
n.19C>A
c.2568C>A (p.Tyr856Ter)
c.1539C>A (p.Tyr513Ter)
c.1122C>A (p.Tyr374Ter)
n.3022C>A
n.3948C>A
c.2679C>A (p.Tyr893Ter)
c.2862C>A (p.Tyr954Ter)
c.2667C>A (p.Tyr889Ter)
c.2781C>A (p.Tyr927Ter)
c.2946C>A (p.Tyr982Ter)
c.3075C>A (p.Tyr1025Ter)
c.2775C>A (p.Tyr925Ter)
c.2739C>A (p.Tyr913Ter)
c.2847C>A (p.Tyr949Ter)
19g.10354086T>ACA403987881TYK2c.*1213A>T (n.*1213A>T)
c.2864A>T (p.Tyr955Phe)
n.4240A>T
n.3278A>T
c.*2415A>T (n.*2415A>T)
c.*906A>T (n.*906A>T)
n.4323A>T
n.966A>T
c.*1969A>T (n.*1969A>T)
c.70A>T
c.68A>T (p.Tyr23Phe)
c.2309A>T (p.Tyr770Phe)
c.160A>T
n.536A>T
c.293A>T (p.Tyr98Phe)
n.18A>T
c.2567A>T (p.Tyr856Phe)
c.1538A>T (p.Tyr513Phe)
c.1121A>T (p.Tyr374Phe)
n.3021A>T
n.3947A>T
c.2678A>T (p.Tyr893Phe)
c.2861A>T (p.Tyr954Phe)
c.2666A>T (p.Tyr889Phe)
c.2780A>T (p.Tyr927Phe)
c.2945A>T (p.Tyr982Phe)
c.3074A>T (p.Tyr1025Phe)
c.2774A>T (p.Tyr925Phe)
c.2738A>T (p.Tyr913Phe)
c.2846A>T (p.Tyr949Phe)
19g.10354086T>CCA403987883TYK2c.*1213A>G (n.*1213A>G)
c.2864A>G (p.Tyr955Cys)
n.4240A>G
n.3278A>G
c.*2415A>G (n.*2415A>G)
c.*906A>G (n.*906A>G)
n.4323A>G
n.966A>G
c.*1969A>G (n.*1969A>G)
c.70A>G
c.68A>G (p.Tyr23Cys)
c.2309A>G (p.Tyr770Cys)
c.160A>G
n.536A>G
c.293A>G (p.Tyr98Cys)
n.18A>G
c.2567A>G (p.Tyr856Cys)
c.1538A>G (p.Tyr513Cys)
c.1121A>G (p.Tyr374Cys)
n.3021A>G
n.3947A>G
c.2678A>G (p.Tyr893Cys)
c.2861A>G (p.Tyr954Cys)
c.2666A>G (p.Tyr889Cys)
c.2780A>G (p.Tyr927Cys)
c.2945A>G (p.Tyr982Cys)
c.3074A>G (p.Tyr1025Cys)
c.2774A>G (p.Tyr925Cys)
c.2738A>G (p.Tyr913Cys)
c.2846A>G (p.Tyr949Cys)
 gnomAD v4
19g.10354086T>GCA403987887TYK2c.*1213A>C (n.*1213A>C)
c.2864A>C (p.Tyr955Ser)
n.4240A>C
n.3278A>C
c.*2415A>C (n.*2415A>C)
c.*906A>C (n.*906A>C)
n.4323A>C
n.966A>C
c.*1969A>C (n.*1969A>C)
c.70A>C
c.68A>C (p.Tyr23Ser)
c.2309A>C (p.Tyr770Ser)
c.160A>C
n.536A>C
c.293A>C (p.Tyr98Ser)
n.18A>C
c.2567A>C (p.Tyr856Ser)
c.1538A>C (p.Tyr513Ser)
c.1121A>C (p.Tyr374Ser)
n.3021A>C
n.3947A>C
c.2678A>C (p.Tyr893Ser)
c.2861A>C (p.Tyr954Ser)
c.2666A>C (p.Tyr889Ser)
c.2780A>C (p.Tyr927Ser)
c.2945A>C (p.Tyr982Ser)
c.3074A>C (p.Tyr1025Ser)
c.2774A>C (p.Tyr925Ser)
c.2738A>C (p.Tyr913Ser)
c.2846A>C (p.Tyr949Ser)
19g.10354087A>CCA403987892TYK2c.*1212T>G (n.*1212T>G)
c.2863T>G (p.Tyr955Asp)
n.4239T>G
n.3277T>G
c.*2414T>G (n.*2414T>G)
c.*905T>G (n.*905T>G)
n.4322T>G
n.965T>G
c.*1968T>G (n.*1968T>G)
c.69T>G
c.67T>G (p.Tyr23Asp)
c.2308T>G (p.Tyr770Asp)
c.159T>G
n.535T>G
c.292T>G (p.Tyr98Asp)
n.17T>G
c.2566T>G (p.Tyr856Asp)
c.1537T>G (p.Tyr513Asp)
c.1120T>G (p.Tyr374Asp)
n.3020T>G
n.3946T>G
c.2677T>G (p.Tyr893Asp)
c.2860T>G (p.Tyr954Asp)
c.2665T>G (p.Tyr889Asp)
c.2779T>G (p.Tyr927Asp)
c.2944T>G (p.Tyr982Asp)
c.3073T>G (p.Tyr1025Asp)
c.2773T>G (p.Tyr925Asp)
c.2737T>G (p.Tyr913Asp)
c.2845T>G (p.Tyr949Asp)
 gnomAD v4
19g.10354087A>GCA403987893TYK2c.*1212T>C (n.*1212T>C)
c.2863T>C (p.Tyr955His)
n.4239T>C
n.3277T>C
c.*2414T>C (n.*2414T>C)
c.*905T>C (n.*905T>C)
n.4322T>C
n.965T>C
c.*1968T>C (n.*1968T>C)
c.69T>C
c.67T>C (p.Tyr23His)
c.2308T>C (p.Tyr770His)
c.159T>C
n.535T>C
c.292T>C (p.Tyr98His)
n.17T>C
c.2566T>C (p.Tyr856His)
c.1537T>C (p.Tyr513His)
c.1120T>C (p.Tyr374His)
n.3020T>C
n.3946T>C
c.2677T>C (p.Tyr893His)
c.2860T>C (p.Tyr954His)
c.2665T>C (p.Tyr889His)
c.2779T>C (p.Tyr927His)
c.2944T>C (p.Tyr982His)
c.3073T>C (p.Tyr1025His)
c.2773T>C (p.Tyr925His)
c.2737T>C (p.Tyr913His)
c.2845T>C (p.Tyr949His)
 COSMIC
19g.10354087A>TCA403987897TYK2c.*1212T>A (n.*1212T>A)
c.2863T>A (p.Tyr955Asn)
n.4239T>A
n.3277T>A
c.*2414T>A (n.*2414T>A)
c.*905T>A (n.*905T>A)
n.4322T>A
n.965T>A
c.*1968T>A (n.*1968T>A)
c.69T>A
c.67T>A (p.Tyr23Asn)
c.2308T>A (p.Tyr770Asn)
c.159T>A
n.535T>A
c.292T>A (p.Tyr98Asn)
n.17T>A
c.2566T>A (p.Tyr856Asn)
c.1537T>A (p.Tyr513Asn)
c.1120T>A (p.Tyr374Asn)
n.3020T>A
n.3946T>A
c.2677T>A (p.Tyr893Asn)
c.2860T>A (p.Tyr954Asn)
c.2665T>A (p.Tyr889Asn)
c.2779T>A (p.Tyr927Asn)
c.2944T>A (p.Tyr982Asn)
c.3073T>A (p.Tyr1025Asn)
c.2773T>A (p.Tyr925Asn)
c.2737T>A (p.Tyr913Asn)
c.2845T>A (p.Tyr949Asn)
19g.10354088G>ACA505373498TYK2c.*1211C>T (n.*1211C>T)
c.2862C>T (p.Leu954=)
n.4238C>T
n.3276C>T
c.*2413C>T (n.*2413C>T)
c.*904C>T (n.*904C>T)
n.4321C>T
n.964C>T
c.*1967C>T (n.*1967C>T)
c.68C>T
c.66C>T (p.Leu22=)
c.2307C>T (p.Leu769=)
c.158C>T
n.534C>T
c.291C>T (p.Leu97=)
n.16C>T
c.2565C>T (p.Leu855=)
c.1536C>T (p.Leu512=)
c.1119C>T (p.Leu373=)
n.3019C>T
n.3945C>T
c.2676C>T (p.Leu892=)
c.2859C>T (p.Leu953=)
c.2664C>T (p.Leu888=)
c.2778C>T (p.Leu926=)
c.2943C>T (p.Leu981=)
c.3072C>T (p.Leu1024=)
c.2772C>T (p.Leu924=)
c.2736C>T (p.Leu912=)
c.2844C>T (p.Leu948=)
19g.10354088G>CCA505373496TYK2c.*1211C>G (n.*1211C>G)
c.2862C>G (p.Leu954=)
n.4238C>G
n.3276C>G
c.*2413C>G (n.*2413C>G)
c.*904C>G (n.*904C>G)
n.4321C>G
n.964C>G
c.*1967C>G (n.*1967C>G)
c.68C>G
c.66C>G (p.Leu22=)
c.2307C>G (p.Leu769=)
c.158C>G
n.534C>G
c.291C>G (p.Leu97=)
n.16C>G
c.2565C>G (p.Leu855=)
c.1536C>G (p.Leu512=)
c.1119C>G (p.Leu373=)
n.3019C>G
n.3945C>G
c.2676C>G (p.Leu892=)
c.2859C>G (p.Leu953=)
c.2664C>G (p.Leu888=)
c.2778C>G (p.Leu926=)
c.2943C>G (p.Leu981=)
c.3072C>G (p.Leu1024=)
c.2772C>G (p.Leu924=)
c.2736C>G (p.Leu912=)
c.2844C>G (p.Leu948=)
 gnomAD v4
19g.10354088G>TCA505373494TYK2c.*1211C>A (n.*1211C>A)
c.2862C>A (p.Leu954=)
n.4238C>A
n.3276C>A
c.*2413C>A (n.*2413C>A)
c.*904C>A (n.*904C>A)
n.4321C>A
n.964C>A
c.*1967C>A (n.*1967C>A)
c.68C>A
c.66C>A (p.Leu22=)
c.2307C>A (p.Leu769=)
c.158C>A
n.534C>A
c.291C>A (p.Leu97=)
n.16C>A
c.2565C>A (p.Leu855=)
c.1536C>A (p.Leu512=)
c.1119C>A (p.Leu373=)
n.3019C>A
n.3945C>A
c.2676C>A (p.Leu892=)
c.2859C>A (p.Leu953=)
c.2664C>A (p.Leu888=)
c.2778C>A (p.Leu926=)
c.2943C>A (p.Leu981=)
c.3072C>A (p.Leu1024=)
c.2772C>A (p.Leu924=)
c.2736C>A (p.Leu912=)
c.2844C>A (p.Leu948=)
19g.10354089A>CCA403987910TYK2c.*1210T>G (n.*1210T>G)
c.2861T>G (p.Leu954Arg)
n.4237T>G
n.3275T>G
c.*2412T>G (n.*2412T>G)
c.*903T>G (n.*903T>G)
n.4320T>G
n.963T>G
c.*1966T>G (n.*1966T>G)
c.67T>G
c.65T>G (p.Leu22Arg)
c.2306T>G (p.Leu769Arg)
c.157T>G
n.533T>G
c.290T>G (p.Leu97Arg)
n.15T>G
c.2564T>G (p.Leu855Arg)
c.1535T>G (p.Leu512Arg)
c.1118T>G (p.Leu373Arg)
n.3018T>G
n.3944T>G
c.2675T>G (p.Leu892Arg)
c.2858T>G (p.Leu953Arg)
c.2663T>G (p.Leu888Arg)
c.2777T>G (p.Leu926Arg)
c.2942T>G (p.Leu981Arg)
c.3071T>G (p.Leu1024Arg)
c.2771T>G (p.Leu924Arg)
c.2735T>G (p.Leu912Arg)
c.2843T>G (p.Leu948Arg)
19g.10354089A>GCA403987902TYK2c.*1210T>C (n.*1210T>C)
c.2861T>C (p.Leu954Pro)
n.4237T>C
n.3275T>C
c.*2412T>C (n.*2412T>C)
c.*903T>C (n.*903T>C)
n.4320T>C
n.963T>C
c.*1966T>C (n.*1966T>C)
c.67T>C
c.65T>C (p.Leu22Pro)
c.2306T>C (p.Leu769Pro)
c.157T>C
n.533T>C
c.290T>C (p.Leu97Pro)
n.15T>C
c.2564T>C (p.Leu855Pro)
c.1535T>C (p.Leu512Pro)
c.1118T>C (p.Leu373Pro)
n.3018T>C
n.3944T>C
c.2675T>C (p.Leu892Pro)
c.2858T>C (p.Leu953Pro)
c.2663T>C (p.Leu888Pro)
c.2777T>C (p.Leu926Pro)
c.2942T>C (p.Leu981Pro)
c.3071T>C (p.Leu1024Pro)
c.2771T>C (p.Leu924Pro)
c.2735T>C (p.Leu912Pro)
c.2843T>C (p.Leu948Pro)
19g.10354089A>TCA403987908TYK2c.*1210T>A (n.*1210T>A)
c.2861T>A (p.Leu954His)
n.4237T>A
n.3275T>A
c.*2412T>A (n.*2412T>A)
c.*903T>A (n.*903T>A)
n.4320T>A
n.963T>A
c.*1966T>A (n.*1966T>A)
c.67T>A
c.65T>A (p.Leu22His)
c.2306T>A (p.Leu769His)
c.157T>A
n.533T>A
c.290T>A (p.Leu97His)
n.15T>A
c.2564T>A (p.Leu855His)
c.1535T>A (p.Leu512His)
c.1118T>A (p.Leu373His)
n.3018T>A
n.3944T>A
c.2675T>A (p.Leu892His)
c.2858T>A (p.Leu953His)
c.2663T>A (p.Leu888His)
c.2777T>A (p.Leu926His)
c.2942T>A (p.Leu981His)
c.3071T>A (p.Leu1024His)
c.2771T>A (p.Leu924His)
c.2735T>A (p.Leu912His)
c.2843T>A (p.Leu948His)
19g.10354090G>ACA403987913TYK2c.*1209C>T (n.*1209C>T)
c.2860C>T (p.Leu954Phe)
n.4236C>T
n.3274C>T
c.*2411C>T (n.*2411C>T)
c.*902C>T (n.*902C>T)
n.4319C>T
n.962C>T
c.*1965C>T (n.*1965C>T)
c.66C>T
c.64C>T (p.Leu22Phe)
c.2305C>T (p.Leu769Phe)
c.156C>T
n.532C>T
c.289C>T (p.Leu97Phe)
n.14C>T
c.2563C>T (p.Leu855Phe)
c.1534C>T (p.Leu512Phe)
c.1117C>T (p.Leu373Phe)
n.3017C>T
n.3943C>T
c.2674C>T (p.Leu892Phe)
c.2857C>T (p.Leu953Phe)
c.2662C>T (p.Leu888Phe)
c.2776C>T (p.Leu926Phe)
c.2941C>T (p.Leu981Phe)
c.3070C>T (p.Leu1024Phe)
c.2770C>T (p.Leu924Phe)
c.2734C>T (p.Leu912Phe)
c.2842C>T (p.Leu948Phe)
19g.10354090G>CCA403987923TYK2c.*1209C>G (n.*1209C>G)
c.2860C>G (p.Leu954Val)
n.4236C>G
n.3274C>G
c.*2411C>G (n.*2411C>G)
c.*902C>G (n.*902C>G)
n.4319C>G
n.962C>G
c.*1965C>G (n.*1965C>G)
c.66C>G
c.64C>G (p.Leu22Val)
c.2305C>G (p.Leu769Val)
c.156C>G
n.532C>G
c.289C>G (p.Leu97Val)
n.14C>G
c.2563C>G (p.Leu855Val)
c.1534C>G (p.Leu512Val)
c.1117C>G (p.Leu373Val)
n.3017C>G
n.3943C>G
c.2674C>G (p.Leu892Val)
c.2857C>G (p.Leu953Val)
c.2662C>G (p.Leu888Val)
c.2776C>G (p.Leu926Val)
c.2941C>G (p.Leu981Val)
c.3070C>G (p.Leu1024Val)
c.2770C>G (p.Leu924Val)
c.2734C>G (p.Leu912Val)
c.2842C>G (p.Leu948Val)
19g.10354090G>TCA403987927TYK2c.*1209C>A (n.*1209C>A)
c.2860C>A (p.Leu954Ile)
n.4236C>A
n.3274C>A
c.*2411C>A (n.*2411C>A)
c.*902C>A (n.*902C>A)
n.4319C>A
n.962C>A
c.*1965C>A (n.*1965C>A)
c.66C>A
c.64C>A (p.Leu22Ile)
c.2305C>A (p.Leu769Ile)
c.156C>A
n.532C>A
c.289C>A (p.Leu97Ile)
n.14C>A
c.2563C>A (p.Leu855Ile)
c.1534C>A (p.Leu512Ile)
c.1117C>A (p.Leu373Ile)
n.3017C>A
n.3943C>A
c.2674C>A (p.Leu892Ile)
c.2857C>A (p.Leu953Ile)
c.2662C>A (p.Leu888Ile)
c.2776C>A (p.Leu926Ile)
c.2941C>A (p.Leu981Ile)
c.3070C>A (p.Leu1024Ile)
c.2770C>A (p.Leu924Ile)
c.2734C>A (p.Leu912Ile)
c.2842C>A (p.Leu948Ile)
19g.10354091C>ACA505373511TYK2c.*1208G>T (n.*1208G>T)
c.2859G>T (p.Thr953=)
n.4235G>T
n.3273G>T
c.*2410G>T (n.*2410G>T)
c.*901G>T (n.*901G>T)
n.4318G>T
n.961G>T
c.*1964G>T (n.*1964G>T)
c.65G>T
c.63G>T (p.Thr21=)
c.2304G>T (p.Thr768=)
c.155G>T
n.531G>T
c.288G>T (p.Thr96=)
n.13G>T
c.2562G>T (p.Thr854=)
c.1533G>T (p.Thr511=)
c.1116G>T (p.Thr372=)
n.3016G>T
n.3942G>T
c.2673G>T (p.Thr891=)
c.2856G>T (p.Thr952=)
c.2661G>T (p.Thr887=)
c.2775G>T (p.Thr925=)
c.2940G>T (p.Thr980=)
c.3069G>T (p.Thr1023=)
c.2769G>T (p.Thr923=)
c.2733G>T (p.Thr911=)
c.2841G>T (p.Thr947=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10354091C=CA2322387997TYK2c.*1208G= (n.*1208G=)
c.2859G= (p.Thr953=)
n.4235G=
n.3273G=
c.*2410G= (n.*2410G=)
c.*901G= (n.*901G=)
n.4318G=
n.961G=
c.*1964G= (n.*1964G=)
c.65G=
c.63G= (p.Thr21=)
c.2304G= (p.Thr768=)
c.155G=
n.531G=
c.288G= (p.Thr96=)
n.13G=
c.2562G= (p.Thr854=)
c.1533G= (p.Thr511=)
c.1116G= (p.Thr372=)
n.3016G=
n.3942G=
c.2673G= (p.Thr891=)
c.2856G= (p.Thr952=)
c.2661G= (p.Thr887=)
c.2775G= (p.Thr925=)
c.2940G= (p.Thr980=)
c.3069G= (p.Thr1023=)
c.2769G= (p.Thr923=)
c.2733G= (p.Thr911=)
c.2841G= (p.Thr947=)
19g.10354091C>GCA9192909TYK2c.*1208G>C (n.*1208G>C)
c.2859G>C (p.Thr953=)
n.4235G>C
n.3273G>C
c.*2410G>C (n.*2410G>C)
c.*901G>C (n.*901G>C)
n.4318G>C
n.961G>C
c.*1964G>C (n.*1964G>C)
c.65G>C
c.63G>C (p.Thr21=)
c.2304G>C (p.Thr768=)
c.155G>C
n.531G>C
c.288G>C (p.Thr96=)
n.13G>C
c.2562G>C (p.Thr854=)
c.1533G>C (p.Thr511=)
c.1116G>C (p.Thr372=)
n.3016G>C
n.3942G>C
c.2673G>C (p.Thr891=)
c.2856G>C (p.Thr952=)
c.2661G>C (p.Thr887=)
c.2775G>C (p.Thr925=)
c.2940G>C (p.Thr980=)
c.3069G>C (p.Thr1023=)
c.2769G>C (p.Thr923=)
c.2733G>C (p.Thr911=)
c.2841G>C (p.Thr947=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354091C>TCA505373509TYK2c.*1208G>A (n.*1208G>A)
c.2859G>A (p.Thr953=)
n.4235G>A
n.3273G>A
c.*2410G>A (n.*2410G>A)
c.*901G>A (n.*901G>A)
n.4318G>A
n.961G>A
c.*1964G>A (n.*1964G>A)
c.65G>A
c.63G>A (p.Thr21=)
c.2304G>A (p.Thr768=)
c.155G>A
n.531G>A
c.288G>A (p.Thr96=)
n.13G>A
c.2562G>A (p.Thr854=)
c.1533G>A (p.Thr511=)
c.1116G>A (p.Thr372=)
n.3016G>A
n.3942G>A
c.2673G>A (p.Thr891=)
c.2856G>A (p.Thr952=)
c.2661G>A (p.Thr887=)
c.2775G>A (p.Thr925=)
c.2940G>A (p.Thr980=)
c.3069G>A (p.Thr1023=)
c.2769G>A (p.Thr923=)
c.2733G>A (p.Thr911=)
c.2841G>A (p.Thr947=)
19g.10354092G>ACA9192910TYK2c.*1207C>T (n.*1207C>T)
c.2858C>T (p.Thr953Met)
n.4234C>T
n.3272C>T
c.*2409C>T (n.*2409C>T)
c.*900C>T (n.*900C>T)
n.4317C>T
n.960C>T
c.*1963C>T (n.*1963C>T)
c.64C>T
c.62C>T (p.Thr21Met)
c.2303C>T (p.Thr768Met)
c.154C>T
n.530C>T
c.287C>T (p.Thr96Met)
n.12C>T
c.2561C>T (p.Thr854Met)
c.1532C>T (p.Thr511Met)
c.1115C>T (p.Thr372Met)
n.3015C>T
n.3941C>T
c.2672C>T (p.Thr891Met)
c.2855C>T (p.Thr952Met)
c.2660C>T (p.Thr887Met)
c.2774C>T (p.Thr925Met)
c.2939C>T (p.Thr980Met)
c.3068C>T (p.Thr1023Met)
c.2768C>T (p.Thr923Met)
c.2732C>T (p.Thr911Met)
c.2840C>T (p.Thr947Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.10354092G>CCA403987939TYK2c.*1207C>G (n.*1207C>G)
c.2858C>G (p.Thr953Arg)
n.4234C>G
n.3272C>G
c.*2409C>G (n.*2409C>G)
c.*900C>G (n.*900C>G)
n.4317C>G
n.960C>G
c.*1963C>G (n.*1963C>G)
c.64C>G
c.62C>G (p.Thr21Arg)
c.2303C>G (p.Thr768Arg)
c.154C>G
n.530C>G
c.287C>G (p.Thr96Arg)
n.12C>G
c.2561C>G (p.Thr854Arg)
c.1532C>G (p.Thr511Arg)
c.1115C>G (p.Thr372Arg)
n.3015C>G
n.3941C>G
c.2672C>G (p.Thr891Arg)
c.2855C>G (p.Thr952Arg)
c.2660C>G (p.Thr887Arg)
c.2774C>G (p.Thr925Arg)
c.2939C>G (p.Thr980Arg)
c.3068C>G (p.Thr1023Arg)
c.2768C>G (p.Thr923Arg)
c.2732C>G (p.Thr911Arg)
c.2840C>G (p.Thr947Arg)
19g.10354092G=CA2322387998TYK2c.*1207C= (n.*1207C=)
c.2858C= (p.Thr953=)
n.4234C=
n.3272C=
c.*2409C= (n.*2409C=)
c.*900C= (n.*900C=)
n.4317C=
n.960C=
c.*1963C= (n.*1963C=)
c.64C=
c.62C= (p.Thr21=)
c.2303C= (p.Thr768=)
c.154C=
n.530C=
c.287C= (p.Thr96=)
n.12C=
c.2561C= (p.Thr854=)
c.1532C= (p.Thr511=)
c.1115C= (p.Thr372=)
n.3015C=
n.3941C=
c.2672C= (p.Thr891=)
c.2855C= (p.Thr952=)
c.2660C= (p.Thr887=)
c.2774C= (p.Thr925=)
c.2939C= (p.Thr980=)
c.3068C= (p.Thr1023=)
c.2768C= (p.Thr923=)
c.2732C= (p.Thr911=)
c.2840C= (p.Thr947=)
19g.10354092G>TCA403987941TYK2c.*1207C>A (n.*1207C>A)
c.2858C>A (p.Thr953Lys)
n.4234C>A
n.3272C>A
c.*2409C>A (n.*2409C>A)
c.*900C>A (n.*900C>A)
n.4317C>A
n.960C>A
c.*1963C>A (n.*1963C>A)
c.64C>A
c.62C>A (p.Thr21Lys)
c.2303C>A (p.Thr768Lys)
c.154C>A
n.530C>A
c.287C>A (p.Thr96Lys)
n.12C>A
c.2561C>A (p.Thr854Lys)
c.1532C>A (p.Thr511Lys)
c.1115C>A (p.Thr372Lys)
n.3015C>A
n.3941C>A
c.2672C>A (p.Thr891Lys)
c.2855C>A (p.Thr952Lys)
c.2660C>A (p.Thr887Lys)
c.2774C>A (p.Thr925Lys)
c.2939C>A (p.Thr980Lys)
c.3068C>A (p.Thr1023Lys)
c.2768C>A (p.Thr923Lys)
c.2732C>A (p.Thr911Lys)
c.2840C>A (p.Thr947Lys)
19g.10354093T>ACA403987943TYK2c.*1206A>T (n.*1206A>T)
c.2857A>T (p.Thr953Ser)
n.4233A>T
n.3271A>T
c.*2408A>T (n.*2408A>T)
c.*899A>T (n.*899A>T)
n.4316A>T
n.959A>T
c.*1962A>T (n.*1962A>T)
c.63A>T
c.61A>T (p.Thr21Ser)
c.2302A>T (p.Thr768Ser)
c.153A>T
n.529A>T
c.286A>T (p.Thr96Ser)
n.11A>T
c.2560A>T (p.Thr854Ser)
c.1531A>T (p.Thr511Ser)
c.1114A>T (p.Thr372Ser)
n.3014A>T
n.3940A>T
c.2671A>T (p.Thr891Ser)
c.2854A>T (p.Thr952Ser)
c.2659A>T (p.Thr887Ser)
c.2773A>T (p.Thr925Ser)
c.2938A>T (p.Thr980Ser)
c.3067A>T (p.Thr1023Ser)
c.2767A>T (p.Thr923Ser)
c.2731A>T (p.Thr911Ser)
c.2839A>T (p.Thr947Ser)
19g.10354093T>CCA403987945TYK2c.*1206A>G (n.*1206A>G)
c.2857A>G (p.Thr953Ala)
n.4233A>G
n.3271A>G
c.*2408A>G (n.*2408A>G)
c.*899A>G (n.*899A>G)
n.4316A>G
n.959A>G
c.*1962A>G (n.*1962A>G)
c.63A>G
c.61A>G (p.Thr21Ala)
c.2302A>G (p.Thr768Ala)
c.153A>G
n.529A>G
c.286A>G (p.Thr96Ala)
n.11A>G
c.2560A>G (p.Thr854Ala)
c.1531A>G (p.Thr511Ala)
c.1114A>G (p.Thr372Ala)
n.3014A>G
n.3940A>G
c.2671A>G (p.Thr891Ala)
c.2854A>G (p.Thr952Ala)
c.2659A>G (p.Thr887Ala)
c.2773A>G (p.Thr925Ala)
c.2938A>G (p.Thr980Ala)
c.3067A>G (p.Thr1023Ala)
c.2767A>G (p.Thr923Ala)
c.2731A>G (p.Thr911Ala)
c.2839A>G (p.Thr947Ala)
19g.10354093T>GCA403987947TYK2c.*1206A>C (n.*1206A>C)
c.2857A>C (p.Thr953Pro)
n.4233A>C
n.3271A>C
c.*2408A>C (n.*2408A>C)
c.*899A>C (n.*899A>C)
n.4316A>C
n.959A>C
c.*1962A>C (n.*1962A>C)
c.63A>C
c.61A>C (p.Thr21Pro)
c.2302A>C (p.Thr768Pro)
c.153A>C
n.529A>C
c.286A>C (p.Thr96Pro)
n.11A>C
c.2560A>C (p.Thr854Pro)
c.1531A>C (p.Thr511Pro)
c.1114A>C (p.Thr372Pro)
n.3014A>C
n.3940A>C
c.2671A>C (p.Thr891Pro)
c.2854A>C (p.Thr952Pro)
c.2659A>C (p.Thr887Pro)
c.2773A>C (p.Thr925Pro)
c.2938A>C (p.Thr980Pro)
c.3067A>C (p.Thr1023Pro)
c.2767A>C (p.Thr923Pro)
c.2731A>C (p.Thr911Pro)
c.2839A>C (p.Thr947Pro)
19g.10354094G>ACA505373519TYK2c.*1205C>T (n.*1205C>T)
c.2856C>T (p.Arg952=)
n.4232C>T
n.3270C>T
c.*2407C>T (n.*2407C>T)
c.*898C>T (n.*898C>T)
n.4315C>T
n.958C>T
c.*1961C>T (n.*1961C>T)
c.62C>T
c.60C>T (p.Arg20=)
c.2301C>T (p.Arg767=)
c.152C>T
n.528C>T
c.285C>T (p.Arg95=)
n.10C>T
c.2559C>T (p.Arg853=)
c.1530C>T (p.Arg510=)
c.1113C>T (p.Arg371=)
n.3013C>T
n.3939C>T
c.2670C>T (p.Arg890=)
c.2853C>T (p.Arg951=)
c.2658C>T (p.Arg886=)
c.2772C>T (p.Arg924=)
c.2937C>T (p.Arg979=)
c.3066C>T (p.Arg1022=)
c.2766C>T (p.Arg922=)
c.2730C>T (p.Arg910=)
c.2838C>T (p.Arg946=)
 ClinVar dbSNP
19g.10354094G>CCA505373524TYK2c.*1205C>G (n.*1205C>G)
c.2856C>G (p.Arg952=)
n.4232C>G
n.3270C>G
c.*2407C>G (n.*2407C>G)
c.*898C>G (n.*898C>G)
n.4315C>G
n.958C>G
c.*1961C>G (n.*1961C>G)
c.62C>G
c.60C>G (p.Arg20=)
c.2301C>G (p.Arg767=)
c.152C>G
n.528C>G
c.285C>G (p.Arg95=)
n.10C>G
c.2559C>G (p.Arg853=)
c.1530C>G (p.Arg510=)
c.1113C>G (p.Arg371=)
n.3013C>G
n.3939C>G
c.2670C>G (p.Arg890=)
c.2853C>G (p.Arg951=)
c.2658C>G (p.Arg886=)
c.2772C>G (p.Arg924=)
c.2937C>G (p.Arg979=)
c.3066C>G (p.Arg1022=)
c.2766C>G (p.Arg922=)
c.2730C>G (p.Arg910=)
c.2838C>G (p.Arg946=)
19g.10354094G=CA2322387999TYK2c.*1205C= (n.*1205C=)
c.2856C= (p.Arg952=)
n.4232C=
n.3270C=
c.*2407C= (n.*2407C=)
c.*898C= (n.*898C=)
n.4315C=
n.958C=
c.*1961C= (n.*1961C=)
c.62C=
c.60C= (p.Arg20=)
c.2301C= (p.Arg767=)
c.152C=
n.528C=
c.285C= (p.Arg95=)
n.10C=
c.2559C= (p.Arg853=)
c.1530C= (p.Arg510=)
c.1113C= (p.Arg371=)
n.3013C=
n.3939C=
c.2670C= (p.Arg890=)
c.2853C= (p.Arg951=)
c.2658C= (p.Arg886=)
c.2772C= (p.Arg924=)
c.2937C= (p.Arg979=)
c.3066C= (p.Arg1022=)
c.2766C= (p.Arg922=)
c.2730C= (p.Arg910=)
c.2838C= (p.Arg946=)
19g.10354094G>TCA505373522TYK2c.*1205C>A (n.*1205C>A)
c.2856C>A (p.Arg952=)
n.4232C>A
n.3270C>A
c.*2407C>A (n.*2407C>A)
c.*898C>A (n.*898C>A)
n.4315C>A
n.958C>A
c.*1961C>A (n.*1961C>A)
c.62C>A
c.60C>A (p.Arg20=)
c.2301C>A (p.Arg767=)
c.152C>A
n.528C>A
c.285C>A (p.Arg95=)
n.10C>A
c.2559C>A (p.Arg853=)
c.1530C>A (p.Arg510=)
c.1113C>A (p.Arg371=)
n.3013C>A
n.3939C>A
c.2670C>A (p.Arg890=)
c.2853C>A (p.Arg951=)
c.2658C>A (p.Arg886=)
c.2772C>A (p.Arg924=)
c.2937C>A (p.Arg979=)
c.3066C>A (p.Arg1022=)
c.2766C>A (p.Arg922=)
c.2730C>A (p.Arg910=)
c.2838C>A (p.Arg946=)
19g.10354095C>ACA403987948TYK2c.*1204G>T (n.*1204G>T)
c.2855G>T (p.Arg952Leu)
n.4231G>T
n.3269G>T
c.*2406G>T (n.*2406G>T)
c.*897G>T (n.*897G>T)
n.4314G>T
n.957G>T
c.*1960G>T (n.*1960G>T)
c.61G>T
c.59G>T (p.Arg20Leu)
c.2300G>T (p.Arg767Leu)
c.151G>T
n.527G>T
c.284G>T (p.Arg95Leu)
n.9G>T
c.2558G>T (p.Arg853Leu)
c.1529G>T (p.Arg510Leu)
c.1112G>T (p.Arg371Leu)
n.3012G>T
n.3938G>T
c.2669G>T (p.Arg890Leu)
c.2852G>T (p.Arg951Leu)
c.2657G>T (p.Arg886Leu)
c.2771G>T (p.Arg924Leu)
c.2936G>T (p.Arg979Leu)
c.3065G>T (p.Arg1022Leu)
c.2765G>T (p.Arg922Leu)
c.2729G>T (p.Arg910Leu)
c.2837G>T (p.Arg946Leu)
19g.10354095C>GCA403987950TYK2c.*1204G>C (n.*1204G>C)
c.2855G>C (p.Arg952Pro)
n.4231G>C
n.3269G>C
c.*2406G>C (n.*2406G>C)
c.*897G>C (n.*897G>C)
n.4314G>C
n.957G>C
c.*1960G>C (n.*1960G>C)
c.61G>C
c.59G>C (p.Arg20Pro)
c.2300G>C (p.Arg767Pro)
c.151G>C
n.527G>C
c.284G>C (p.Arg95Pro)
n.9G>C
c.2558G>C (p.Arg853Pro)
c.1529G>C (p.Arg510Pro)
c.1112G>C (p.Arg371Pro)
n.3012G>C
n.3938G>C
c.2669G>C (p.Arg890Pro)
c.2852G>C (p.Arg951Pro)
c.2657G>C (p.Arg886Pro)
c.2771G>C (p.Arg924Pro)
c.2936G>C (p.Arg979Pro)
c.3065G>C (p.Arg1022Pro)
c.2765G>C (p.Arg922Pro)
c.2729G>C (p.Arg910Pro)
c.2837G>C (p.Arg946Pro)
19g.10354095C>TCA403987953TYK2c.*1204G>A (n.*1204G>A)
c.2855G>A (p.Arg952His)
n.4231G>A
n.3269G>A
c.*2406G>A (n.*2406G>A)
c.*897G>A (n.*897G>A)
n.4314G>A
n.957G>A
c.*1960G>A (n.*1960G>A)
c.61G>A
c.59G>A (p.Arg20His)
c.2300G>A (p.Arg767His)
c.151G>A
n.527G>A
c.284G>A (p.Arg95His)
n.9G>A
c.2558G>A (p.Arg853His)
c.1529G>A (p.Arg510His)
c.1112G>A (p.Arg371His)
n.3012G>A
n.3938G>A
c.2669G>A (p.Arg890His)
c.2852G>A (p.Arg951His)
c.2657G>A (p.Arg886His)
c.2771G>A (p.Arg924His)
c.2936G>A (p.Arg979His)
c.3065G>A (p.Arg1022His)
c.2765G>A (p.Arg922His)
c.2729G>A (p.Arg910His)
c.2837G>A (p.Arg946His)
 COSMIC
19g.10354096G>ACA403987956TYK2c.*1203C>T (n.*1203C>T)
c.2854C>T (p.Arg952Cys)
n.4230C>T
n.3268C>T
c.*2405C>T (n.*2405C>T)
c.*896C>T (n.*896C>T)
n.4313C>T
n.956C>T
c.*1959C>T (n.*1959C>T)
c.60C>T
c.58C>T (p.Arg20Cys)
c.2299C>T (p.Arg767Cys)
c.150C>T
n.526C>T
c.283C>T (p.Arg95Cys)
n.8C>T
c.2557C>T (p.Arg853Cys)
c.1528C>T (p.Arg510Cys)
c.1111C>T (p.Arg371Cys)
n.3011C>T
n.3937C>T
c.2668C>T (p.Arg890Cys)
c.2851C>T (p.Arg951Cys)
c.2656C>T (p.Arg886Cys)
c.2770C>T (p.Arg924Cys)
c.2935C>T (p.Arg979Cys)
c.3064C>T (p.Arg1022Cys)
c.2764C>T (p.Arg922Cys)
c.2728C>T (p.Arg910Cys)
c.2836C>T (p.Arg946Cys)
 dbSNP
19g.10354096G>CCA403987959TYK2c.*1203C>G (n.*1203C>G)
c.2854C>G (p.Arg952Gly)
n.4230C>G
n.3268C>G
c.*2405C>G (n.*2405C>G)
c.*896C>G (n.*896C>G)
n.4313C>G
n.956C>G
c.*1959C>G (n.*1959C>G)
c.60C>G
c.58C>G (p.Arg20Gly)
c.2299C>G (p.Arg767Gly)
c.150C>G
n.526C>G
c.283C>G (p.Arg95Gly)
n.8C>G
c.2557C>G (p.Arg853Gly)
c.1528C>G (p.Arg510Gly)
c.1111C>G (p.Arg371Gly)
n.3011C>G
n.3937C>G
c.2668C>G (p.Arg890Gly)
c.2851C>G (p.Arg951Gly)
c.2656C>G (p.Arg886Gly)
c.2770C>G (p.Arg924Gly)
c.2935C>G (p.Arg979Gly)
c.3064C>G (p.Arg1022Gly)
c.2764C>G (p.Arg922Gly)
c.2728C>G (p.Arg910Gly)
c.2836C>G (p.Arg946Gly)
19g.10354096G=CA2322388000TYK2c.*1203C= (n.*1203C=)
c.2854C= (p.Arg952=)
n.4230C=
n.3268C=
c.*2405C= (n.*2405C=)
c.*896C= (n.*896C=)
n.4313C=
n.956C=
c.*1959C= (n.*1959C=)
c.60C=
c.58C= (p.Arg20=)
c.2299C= (p.Arg767=)
c.150C=
n.526C=
c.283C= (p.Arg95=)
n.8C=
c.2557C= (p.Arg853=)
c.1528C= (p.Arg510=)
c.1111C= (p.Arg371=)
n.3011C=
n.3937C=
c.2668C= (p.Arg890=)
c.2851C= (p.Arg951=)
c.2656C= (p.Arg886=)
c.2770C= (p.Arg924=)
c.2935C= (p.Arg979=)
c.3064C= (p.Arg1022=)
c.2764C= (p.Arg922=)
c.2728C= (p.Arg910=)
c.2836C= (p.Arg946=)
19g.10354096G>TCA403987958TYK2c.*1203C>A (n.*1203C>A)
c.2854C>A (p.Arg952Ser)
n.4230C>A
n.3268C>A
c.*2405C>A (n.*2405C>A)
c.*896C>A (n.*896C>A)
n.4313C>A
n.956C>A
c.*1959C>A (n.*1959C>A)
c.60C>A
c.58C>A (p.Arg20Ser)
c.2299C>A (p.Arg767Ser)
c.150C>A
n.526C>A
c.283C>A (p.Arg95Ser)
n.8C>A
c.2557C>A (p.Arg853Ser)
c.1528C>A (p.Arg510Ser)
c.1111C>A (p.Arg371Ser)
n.3011C>A
n.3937C>A
c.2668C>A (p.Arg890Ser)
c.2851C>A (p.Arg951Ser)
c.2656C>A (p.Arg886Ser)
c.2770C>A (p.Arg924Ser)
c.2935C>A (p.Arg979Ser)
c.3064C>A (p.Arg1022Ser)
c.2764C>A (p.Arg922Ser)
c.2728C>A (p.Arg910Ser)
c.2836C>A (p.Arg946Ser)
19g.10354097C>ACA505373544TYK2c.*1202G>T (n.*1202G>T)
c.2853G>T (p.Leu951=)
n.4229G>T
n.3267G>T
c.*2404G>T (n.*2404G>T)
c.*895G>T (n.*895G>T)
n.4312G>T
n.955G>T
c.*1958G>T (n.*1958G>T)
c.59G>T
c.57G>T (p.Leu19=)
c.2298G>T (p.Leu766=)
c.149G>T
n.525G>T
c.282G>T (p.Leu94=)
n.7G>T
c.2556G>T (p.Leu852=)
c.1527G>T (p.Leu509=)
c.1110G>T (p.Leu370=)
n.3010G>T
n.3936G>T
c.2667G>T (p.Leu889=)
c.2850G>T (p.Leu950=)
c.2655G>T (p.Leu885=)
c.2769G>T (p.Leu923=)
c.2934G>T (p.Leu978=)
c.3063G>T (p.Leu1021=)
c.2763G>T (p.Leu921=)
c.2727G>T (p.Leu909=)
c.2835G>T (p.Leu945=)
19g.10354097C>GCA505373548TYK2c.*1202G>C (n.*1202G>C)
c.2853G>C (p.Leu951=)
n.4229G>C
n.3267G>C
c.*2404G>C (n.*2404G>C)
c.*895G>C (n.*895G>C)
n.4312G>C
n.955G>C
c.*1958G>C (n.*1958G>C)
c.59G>C
c.57G>C (p.Leu19=)
c.2298G>C (p.Leu766=)
c.149G>C
n.525G>C
c.282G>C (p.Leu94=)
n.7G>C
c.2556G>C (p.Leu852=)
c.1527G>C (p.Leu509=)
c.1110G>C (p.Leu370=)
n.3010G>C
n.3936G>C
c.2667G>C (p.Leu889=)
c.2850G>C (p.Leu950=)
c.2655G>C (p.Leu885=)
c.2769G>C (p.Leu923=)
c.2934G>C (p.Leu978=)
c.3063G>C (p.Leu1021=)
c.2763G>C (p.Leu921=)
c.2727G>C (p.Leu909=)
c.2835G>C (p.Leu945=)
19g.10354097C>TCA505373552TYK2c.*1202G>A (n.*1202G>A)
c.2853G>A (p.Leu951=)
n.4229G>A
n.3267G>A
c.*2404G>A (n.*2404G>A)
c.*895G>A (n.*895G>A)
n.4312G>A
n.955G>A
c.*1958G>A (n.*1958G>A)
c.59G>A
c.57G>A (p.Leu19=)
c.2298G>A (p.Leu766=)
c.149G>A
n.525G>A
c.282G>A (p.Leu94=)
n.7G>A
c.2556G>A (p.Leu852=)
c.1527G>A (p.Leu509=)
c.1110G>A (p.Leu370=)
n.3010G>A
n.3936G>A
c.2667G>A (p.Leu889=)
c.2850G>A (p.Leu950=)
c.2655G>A (p.Leu885=)
c.2769G>A (p.Leu923=)
c.2934G>A (p.Leu978=)
c.3063G>A (p.Leu1021=)
c.2763G>A (p.Leu921=)
c.2727G>A (p.Leu909=)
c.2835G>A (p.Leu945=)
19g.10354098A=CA2322388001TYK2c.*1201T= (n.*1201T=)
c.2852T= (p.Leu951=)
n.4228T=
n.3266T=
c.*2403T= (n.*2403T=)
c.*894T= (n.*894T=)
n.4311T=
n.954T=
c.*1957T= (n.*1957T=)
c.58T=
c.56T= (p.Leu19=)
c.2297T= (p.Leu766=)
c.148T=
n.524T=
c.281T= (p.Leu94=)
n.6T=
c.2555T= (p.Leu852=)
c.1526T= (p.Leu509=)
c.1109T= (p.Leu370=)
n.3009T=
n.3935T=
c.2666T= (p.Leu889=)
c.2849T= (p.Leu950=)
c.2654T= (p.Leu885=)
c.2768T= (p.Leu923=)
c.2933T= (p.Leu978=)
c.3062T= (p.Leu1021=)
c.2762T= (p.Leu921=)
c.2726T= (p.Leu909=)
c.2834T= (p.Leu945=)
19g.10354098A>CCA403987964TYK2c.*1201T>G (n.*1201T>G)
c.2852T>G (p.Leu951Arg)
n.4228T>G
n.3266T>G
c.*2403T>G (n.*2403T>G)
c.*894T>G (n.*894T>G)
n.4311T>G
n.954T>G
c.*1957T>G (n.*1957T>G)
c.58T>G
c.56T>G (p.Leu19Arg)
c.2297T>G (p.Leu766Arg)
c.148T>G
n.524T>G
c.281T>G (p.Leu94Arg)
n.6T>G
c.2555T>G (p.Leu852Arg)
c.1526T>G (p.Leu509Arg)
c.1109T>G (p.Leu370Arg)
n.3009T>G
n.3935T>G
c.2666T>G (p.Leu889Arg)
c.2849T>G (p.Leu950Arg)
c.2654T>G (p.Leu885Arg)
c.2768T>G (p.Leu923Arg)
c.2933T>G (p.Leu978Arg)
c.3062T>G (p.Leu1021Arg)
c.2762T>G (p.Leu921Arg)
c.2726T>G (p.Leu909Arg)
c.2834T>G (p.Leu945Arg)
19g.10354098A>GCA403987970TYK2c.*1201T>C (n.*1201T>C)
c.2852T>C (p.Leu951Pro)
n.4228T>C
n.3266T>C
c.*2403T>C (n.*2403T>C)
c.*894T>C (n.*894T>C)
n.4311T>C
n.954T>C
c.*1957T>C (n.*1957T>C)
c.58T>C
c.56T>C (p.Leu19Pro)
c.2297T>C (p.Leu766Pro)
c.148T>C
n.524T>C
c.281T>C (p.Leu94Pro)
n.6T>C
c.2555T>C (p.Leu852Pro)
c.1526T>C (p.Leu509Pro)
c.1109T>C (p.Leu370Pro)
n.3009T>C
n.3935T>C
c.2666T>C (p.Leu889Pro)
c.2849T>C (p.Leu950Pro)
c.2654T>C (p.Leu885Pro)
c.2768T>C (p.Leu923Pro)
c.2933T>C (p.Leu978Pro)
c.3062T>C (p.Leu1021Pro)
c.2762T>C (p.Leu921Pro)
c.2726T>C (p.Leu909Pro)
c.2834T>C (p.Leu945Pro)
19g.10354098A>TCA9192911TYK2c.*1201T>A (n.*1201T>A)
c.2852T>A (p.Leu951Gln)
n.4228T>A
n.3266T>A
c.*2403T>A (n.*2403T>A)
c.*894T>A (n.*894T>A)
n.4311T>A
n.954T>A
c.*1957T>A (n.*1957T>A)
c.58T>A
c.56T>A (p.Leu19Gln)
c.2297T>A (p.Leu766Gln)
c.148T>A
n.524T>A
c.281T>A (p.Leu94Gln)
n.6T>A
c.2555T>A (p.Leu852Gln)
c.1526T>A (p.Leu509Gln)
c.1109T>A (p.Leu370Gln)
n.3009T>A
n.3935T>A
c.2666T>A (p.Leu889Gln)
c.2849T>A (p.Leu950Gln)
c.2654T>A (p.Leu885Gln)
c.2768T>A (p.Leu923Gln)
c.2933T>A (p.Leu978Gln)
c.3062T>A (p.Leu1021Gln)
c.2762T>A (p.Leu921Gln)
c.2726T>A (p.Leu909Gln)
c.2834T>A (p.Leu945Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354099G>ACA505373565TYK2c.*1200C>T (n.*1200C>T)
c.2851C>T (p.Leu951=)
n.4227C>T
n.3265C>T
c.*2402C>T (n.*2402C>T)
c.*893C>T (n.*893C>T)
n.4310C>T
n.953C>T
c.*1956C>T (n.*1956C>T)
c.57C>T
c.55C>T (p.Leu19=)
c.2296C>T (p.Leu766=)
c.147C>T
n.523C>T
c.280C>T (p.Leu94=)
n.5C>T
c.2554C>T (p.Leu852=)
c.1525C>T (p.Leu509=)
c.1108C>T (p.Leu370=)
n.3008C>T
n.3934C>T
c.2665C>T (p.Leu889=)
c.2848C>T (p.Leu950=)
c.2653C>T (p.Leu885=)
c.2767C>T (p.Leu923=)
c.2932C>T (p.Leu978=)
c.3061C>T (p.Leu1021=)
c.2761C>T (p.Leu921=)
c.2725C>T (p.Leu909=)
c.2833C>T (p.Leu945=)
19g.10354099G>CCA403987972TYK2c.*1200C>G (n.*1200C>G)
c.2851C>G (p.Leu951Val)
n.4227C>G
n.3265C>G
c.*2402C>G (n.*2402C>G)
c.*893C>G (n.*893C>G)
n.4310C>G
n.953C>G
c.*1956C>G (n.*1956C>G)
c.57C>G
c.55C>G (p.Leu19Val)
c.2296C>G (p.Leu766Val)
c.147C>G
n.523C>G
c.280C>G (p.Leu94Val)
n.5C>G
c.2554C>G (p.Leu852Val)
c.1525C>G (p.Leu509Val)
c.1108C>G (p.Leu370Val)
n.3008C>G
n.3934C>G
c.2665C>G (p.Leu889Val)
c.2848C>G (p.Leu950Val)
c.2653C>G (p.Leu885Val)
c.2767C>G (p.Leu923Val)
c.2932C>G (p.Leu978Val)
c.3061C>G (p.Leu1021Val)
c.2761C>G (p.Leu921Val)
c.2725C>G (p.Leu909Val)
c.2833C>G (p.Leu945Val)
19g.10354099G>TCA403987980TYK2c.*1200C>A (n.*1200C>A)
c.2851C>A (p.Leu951Met)
n.4227C>A
n.3265C>A
c.*2402C>A (n.*2402C>A)
c.*893C>A (n.*893C>A)
n.4310C>A
n.953C>A
c.*1956C>A (n.*1956C>A)
c.57C>A
c.55C>A (p.Leu19Met)
c.2296C>A (p.Leu766Met)
c.147C>A
n.523C>A
c.280C>A (p.Leu94Met)
n.5C>A
c.2554C>A (p.Leu852Met)
c.1525C>A (p.Leu509Met)
c.1108C>A (p.Leu370Met)
n.3008C>A
n.3934C>A
c.2665C>A (p.Leu889Met)
c.2848C>A (p.Leu950Met)
c.2653C>A (p.Leu885Met)
c.2767C>A (p.Leu923Met)
c.2932C>A (p.Leu978Met)
c.3061C>A (p.Leu1021Met)
c.2761C>A (p.Leu921Met)
c.2725C>A (p.Leu909Met)
c.2833C>A (p.Leu945Met)
19g.10354100A>CCA403987984TYK2c.*1199T>G (n.*1199T>G)
c.2850T>G (p.Ile950Met)
n.4226T>G
n.3264T>G
c.*2401T>G (n.*2401T>G)
c.*892T>G (n.*892T>G)
n.4309T>G
n.952T>G
c.*1955T>G (n.*1955T>G)
c.56T>G
c.54T>G (p.Ile18Met)
c.2295T>G (p.Ile765Met)
c.146T>G
n.522T>G
c.279T>G (p.Ile93Met)
n.4T>G
c.2553T>G (p.Ile851Met)
c.1524T>G (p.Ile508Met)
c.1107T>G (p.Ile369Met)
n.3007T>G
n.3933T>G
c.2664T>G (p.Ile888Met)
c.2847T>G (p.Ile949Met)
c.2652T>G (p.Ile884Met)
c.2766T>G (p.Ile922Met)
c.2931T>G (p.Ile977Met)
c.3060T>G (p.Ile1020Met)
c.2760T>G (p.Ile920Met)
c.2724T>G (p.Ile908Met)
c.2832T>G (p.Ile944Met)
19g.10354100A>GCA505373569TYK2c.*1199T>C (n.*1199T>C)
c.2850T>C (p.Ile950=)
n.4226T>C
n.3264T>C
c.*2401T>C (n.*2401T>C)
c.*892T>C (n.*892T>C)
n.4309T>C
n.952T>C
c.*1955T>C (n.*1955T>C)
c.56T>C
c.54T>C (p.Ile18=)
c.2295T>C (p.Ile765=)
c.146T>C
n.522T>C
c.279T>C (p.Ile93=)
n.4T>C
c.2553T>C (p.Ile851=)
c.1524T>C (p.Ile508=)
c.1107T>C (p.Ile369=)
n.3007T>C
n.3933T>C
c.2664T>C (p.Ile888=)
c.2847T>C (p.Ile949=)
c.2652T>C (p.Ile884=)
c.2766T>C (p.Ile922=)
c.2931T>C (p.Ile977=)
c.3060T>C (p.Ile1020=)
c.2760T>C (p.Ile920=)
c.2724T>C (p.Ile908=)
c.2832T>C (p.Ile944=)
19g.10354100A>TCA505373571TYK2c.*1199T>A (n.*1199T>A)
c.2850T>A (p.Ile950=)
n.4226T>A
n.3264T>A
c.*2401T>A (n.*2401T>A)
c.*892T>A (n.*892T>A)
n.4309T>A
n.952T>A
c.*1955T>A (n.*1955T>A)
c.56T>A
c.54T>A (p.Ile18=)
c.2295T>A (p.Ile765=)
c.146T>A
n.522T>A
c.279T>A (p.Ile93=)
n.4T>A
c.2553T>A (p.Ile851=)
c.1524T>A (p.Ile508=)
c.1107T>A (p.Ile369=)
n.3007T>A
n.3933T>A
c.2664T>A (p.Ile888=)
c.2847T>A (p.Ile949=)
c.2652T>A (p.Ile884=)
c.2766T>A (p.Ile922=)
c.2931T>A (p.Ile977=)
c.3060T>A (p.Ile1020=)
c.2760T>A (p.Ile920=)
c.2724T>A (p.Ile908=)
c.2832T>A (p.Ile944=)
 gnomAD v4
19g.10354101A=CA2322388002TYK2c.*1198T= (n.*1198T=)
c.2849T= (p.Ile950=)
n.4225T=
n.3263T=
c.*2400T= (n.*2400T=)
c.*891T= (n.*891T=)
n.4308T=
n.951T=
c.*1954T= (n.*1954T=)
c.55T=
c.53T= (p.Ile18=)
c.2294T= (p.Ile765=)
c.145T=
n.521T=
c.278T= (p.Ile93=)
n.3T=
c.2552T= (p.Ile851=)
c.1523T= (p.Ile508=)
c.1106T= (p.Ile369=)
n.3006T=
n.3932T=
c.2663T= (p.Ile888=)
c.2846T= (p.Ile949=)
c.2651T= (p.Ile884=)
c.2765T= (p.Ile922=)
c.2930T= (p.Ile977=)
c.3059T= (p.Ile1020=)
c.2759T= (p.Ile920=)
c.2723T= (p.Ile908=)
c.2831T= (p.Ile944=)
19g.10354101A>CCA403987989TYK2c.*1198T>G (n.*1198T>G)
c.2849T>G (p.Ile950Ser)
n.4225T>G
n.3263T>G
c.*2400T>G (n.*2400T>G)
c.*891T>G (n.*891T>G)
n.4308T>G
n.951T>G
c.*1954T>G (n.*1954T>G)
c.55T>G
c.53T>G (p.Ile18Ser)
c.2294T>G (p.Ile765Ser)
c.145T>G
n.521T>G
c.278T>G (p.Ile93Ser)
n.3T>G
c.2552T>G (p.Ile851Ser)
c.1523T>G (p.Ile508Ser)
c.1106T>G (p.Ile369Ser)
n.3006T>G
n.3932T>G
c.2663T>G (p.Ile888Ser)
c.2846T>G (p.Ile949Ser)
c.2651T>G (p.Ile884Ser)
c.2765T>G (p.Ile922Ser)
c.2930T>G (p.Ile977Ser)
c.3059T>G (p.Ile1020Ser)
c.2759T>G (p.Ile920Ser)
c.2723T>G (p.Ile908Ser)
c.2831T>G (p.Ile944Ser)
 dbSNP gnomAD v2
19g.10354101A>GCA403987992TYK2c.*1198T>C (n.*1198T>C)
c.2849T>C (p.Ile950Thr)
n.4225T>C
n.3263T>C
c.*2400T>C (n.*2400T>C)
c.*891T>C (n.*891T>C)
n.4308T>C
n.951T>C
c.*1954T>C (n.*1954T>C)
c.55T>C
c.53T>C (p.Ile18Thr)
c.2294T>C (p.Ile765Thr)
c.145T>C
n.521T>C
c.278T>C (p.Ile93Thr)
n.3T>C
c.2552T>C (p.Ile851Thr)
c.1523T>C (p.Ile508Thr)
c.1106T>C (p.Ile369Thr)
n.3006T>C
n.3932T>C
c.2663T>C (p.Ile888Thr)
c.2846T>C (p.Ile949Thr)
c.2651T>C (p.Ile884Thr)
c.2765T>C (p.Ile922Thr)
c.2930T>C (p.Ile977Thr)
c.3059T>C (p.Ile1020Thr)
c.2759T>C (p.Ile920Thr)
c.2723T>C (p.Ile908Thr)
c.2831T>C (p.Ile944Thr)
19g.10354101A>TCA403987995TYK2c.*1198T>A (n.*1198T>A)
c.2849T>A (p.Ile950Asn)
n.4225T>A
n.3263T>A
c.*2400T>A (n.*2400T>A)
c.*891T>A (n.*891T>A)
n.4308T>A
n.951T>A
c.*1954T>A (n.*1954T>A)
c.55T>A
c.53T>A (p.Ile18Asn)
c.2294T>A (p.Ile765Asn)
c.145T>A
n.521T>A
c.278T>A (p.Ile93Asn)
n.3T>A
c.2552T>A (p.Ile851Asn)
c.1523T>A (p.Ile508Asn)
c.1106T>A (p.Ile369Asn)
n.3006T>A
n.3932T>A
c.2663T>A (p.Ile888Asn)
c.2846T>A (p.Ile949Asn)
c.2651T>A (p.Ile884Asn)
c.2765T>A (p.Ile922Asn)
c.2930T>A (p.Ile977Asn)
c.3059T>A (p.Ile1020Asn)
c.2759T>A (p.Ile920Asn)
c.2723T>A (p.Ile908Asn)
c.2831T>A (p.Ile944Asn)
19g.10354102T>ACA403987997TYK2c.*1197A>T (n.*1197A>T)
c.2848A>T (p.Ile950Phe)
n.4224A>T
n.3262A>T
c.*2399A>T (n.*2399A>T)
c.*890A>T (n.*890A>T)
n.4307A>T
n.950A>T
c.*1953A>T (n.*1953A>T)
c.54A>T
c.52A>T (p.Ile18Phe)
c.2293A>T (p.Ile765Phe)
c.144A>T
n.520A>T
c.277A>T (p.Ile93Phe)
n.2A>T
c.2551A>T (p.Ile851Phe)
c.1522A>T (p.Ile508Phe)
c.1105A>T (p.Ile369Phe)
n.3005A>T
n.3931A>T
c.2662A>T (p.Ile888Phe)
c.2845A>T (p.Ile949Phe)
c.2650A>T (p.Ile884Phe)
c.2764A>T (p.Ile922Phe)
c.2929A>T (p.Ile977Phe)
c.3058A>T (p.Ile1020Phe)
c.2758A>T (p.Ile920Phe)
c.2722A>T (p.Ile908Phe)
c.2830A>T (p.Ile944Phe)
19g.10354102T>CCA403988001TYK2c.*1197A>G (n.*1197A>G)
c.2848A>G (p.Ile950Val)
n.4224A>G
n.3262A>G
c.*2399A>G (n.*2399A>G)
c.*890A>G (n.*890A>G)
n.4307A>G
n.950A>G
c.*1953A>G (n.*1953A>G)
c.54A>G
c.52A>G (p.Ile18Val)
c.2293A>G (p.Ile765Val)
c.144A>G
n.520A>G
c.277A>G (p.Ile93Val)
n.2A>G
c.2551A>G (p.Ile851Val)
c.1522A>G (p.Ile508Val)
c.1105A>G (p.Ile369Val)
n.3005A>G
n.3931A>G
c.2662A>G (p.Ile888Val)
c.2845A>G (p.Ile949Val)
c.2650A>G (p.Ile884Val)
c.2764A>G (p.Ile922Val)
c.2929A>G (p.Ile977Val)
c.3058A>G (p.Ile1020Val)
c.2758A>G (p.Ile920Val)
c.2722A>G (p.Ile908Val)
c.2830A>G (p.Ile944Val)
19g.10354102T>GCA403988005TYK2c.*1197A>C (n.*1197A>C)
c.2848A>C (p.Ile950Leu)
n.4224A>C
n.3262A>C
c.*2399A>C (n.*2399A>C)
c.*890A>C (n.*890A>C)
n.4307A>C
n.950A>C
c.*1953A>C (n.*1953A>C)
c.54A>C
c.52A>C (p.Ile18Leu)
c.2293A>C (p.Ile765Leu)
c.144A>C
n.520A>C
c.277A>C (p.Ile93Leu)
n.2A>C
c.2551A>C (p.Ile851Leu)
c.1522A>C (p.Ile508Leu)
c.1105A>C (p.Ile369Leu)
n.3005A>C
n.3931A>C
c.2662A>C (p.Ile888Leu)
c.2845A>C (p.Ile949Leu)
c.2650A>C (p.Ile884Leu)
c.2764A>C (p.Ile922Leu)
c.2929A>C (p.Ile977Leu)
c.3058A>C (p.Ile1020Leu)
c.2758A>C (p.Ile920Leu)
c.2722A>C (p.Ile908Leu)
c.2830A>C (p.Ile944Leu)
19g.10354103G>ACA505373584TYK2c.*1196C>T (n.*1196C>T)
c.2847C>T (p.Asp949=)
n.4223C>T
n.3261C>T
c.*2398C>T (n.*2398C>T)
c.*889C>T (n.*889C>T)
n.4306C>T
n.949C>T
c.*1952C>T (n.*1952C>T)
c.53C>T
c.51C>T (p.Asp17=)
c.2292C>T (p.Asp764=)
c.143C>T
n.519C>T
c.276C>T (p.Asp92=)
n.1C>T
c.2550C>T (p.Asp850=)
c.1521C>T (p.Asp507=)
c.1104C>T (p.Asp368=)
n.3004C>T
n.3930C>T
c.2661C>T (p.Asp887=)
c.2844C>T (p.Asp948=)
c.2649C>T (p.Asp883=)
c.2763C>T (p.Asp921=)
c.2928C>T (p.Asp976=)
c.3057C>T (p.Asp1019=)
c.2757C>T (p.Asp919=)
c.2721C>T (p.Asp907=)
c.2829C>T (p.Asp943=)
 dbSNP
19g.10354103G>CCA403988011TYK2c.*1196C>G (n.*1196C>G)
c.2847C>G (p.Asp949Glu)
n.4223C>G
n.3261C>G
c.*2398C>G (n.*2398C>G)
c.*889C>G (n.*889C>G)
n.4306C>G
n.949C>G
c.*1952C>G (n.*1952C>G)
c.53C>G
c.51C>G (p.Asp17Glu)
c.2292C>G (p.Asp764Glu)
c.143C>G
n.519C>G
c.276C>G (p.Asp92Glu)
n.1C>G
c.2550C>G (p.Asp850Glu)
c.1521C>G (p.Asp507Glu)
c.1104C>G (p.Asp368Glu)
n.3004C>G
n.3930C>G
c.2661C>G (p.Asp887Glu)
c.2844C>G (p.Asp948Glu)
c.2649C>G (p.Asp883Glu)
c.2763C>G (p.Asp921Glu)
c.2928C>G (p.Asp976Glu)
c.3057C>G (p.Asp1019Glu)
c.2757C>G (p.Asp919Glu)
c.2721C>G (p.Asp907Glu)
c.2829C>G (p.Asp943Glu)
19g.10354103G=CA2322388003TYK2c.*1196C= (n.*1196C=)
c.2847C= (p.Asp949=)
n.4223C=
n.3261C=
c.*2398C= (n.*2398C=)
c.*889C= (n.*889C=)
n.4306C=
n.949C=
c.*1952C= (n.*1952C=)
c.53C=
c.51C= (p.Asp17=)
c.2292C= (p.Asp764=)
c.143C=
n.519C=
c.276C= (p.Asp92=)
n.1C=
c.2550C= (p.Asp850=)
c.1521C= (p.Asp507=)
c.1104C= (p.Asp368=)
n.3004C=
n.3930C=
c.2661C= (p.Asp887=)
c.2844C= (p.Asp948=)
c.2649C= (p.Asp883=)
c.2763C= (p.Asp921=)
c.2928C= (p.Asp976=)
c.3057C= (p.Asp1019=)
c.2757C= (p.Asp919=)
c.2721C= (p.Asp907=)
c.2829C= (p.Asp943=)
19g.10354103G>TCA403988008TYK2c.*1196C>A (n.*1196C>A)
c.2847C>A (p.Asp949Glu)
n.4223C>A
n.3261C>A
c.*2398C>A (n.*2398C>A)
c.*889C>A (n.*889C>A)
n.4306C>A
n.949C>A
c.*1952C>A (n.*1952C>A)
c.53C>A
c.51C>A (p.Asp17Glu)
c.2292C>A (p.Asp764Glu)
c.143C>A
n.519C>A
c.276C>A (p.Asp92Glu)
n.1C>A
c.2550C>A (p.Asp850Glu)
c.1521C>A (p.Asp507Glu)
c.1104C>A (p.Asp368Glu)
n.3004C>A
n.3930C>A
c.2661C>A (p.Asp887Glu)
c.2844C>A (p.Asp948Glu)
c.2649C>A (p.Asp883Glu)
c.2763C>A (p.Asp921Glu)
c.2928C>A (p.Asp976Glu)
c.3057C>A (p.Asp1019Glu)
c.2757C>A (p.Asp919Glu)
c.2721C>A (p.Asp907Glu)
c.2829C>A (p.Asp943Glu)
19g.10354104T>ACA403988022TYK2c.*1195A>T (n.*1195A>T)
c.2846A>T (p.Asp949Val)
n.4222A>T
n.3260A>T
c.*2397A>T (n.*2397A>T)
c.*888A>T (n.*888A>T)
n.4305A>T
n.948A>T
c.*1951A>T (n.*1951A>T)
c.52A>T
c.50A>T (p.Asp17Val)
c.2291A>T (p.Asp764Val)
c.142A>T
n.518A>T
c.275A>T (p.Asp92Val)
c.2549A>T (p.Asp850Val)
c.1520A>T (p.Asp507Val)
c.1103A>T (p.Asp368Val)
n.3003A>T
n.3929A>T
c.2660A>T (p.Asp887Val)
c.2843A>T (p.Asp948Val)
c.2648A>T (p.Asp883Val)
c.2762A>T (p.Asp921Val)
c.2927A>T (p.Asp976Val)
c.3056A>T (p.Asp1019Val)
c.2756A>T (p.Asp919Val)
c.2720A>T (p.Asp907Val)
c.2828A>T (p.Asp943Val)
19g.10354104T>CCA403988025TYK2c.*1195A>G (n.*1195A>G)
c.2846A>G (p.Asp949Gly)
n.4222A>G
n.3260A>G
c.*2397A>G (n.*2397A>G)
c.*888A>G (n.*888A>G)
n.4305A>G
n.948A>G
c.*1951A>G (n.*1951A>G)
c.52A>G
c.50A>G (p.Asp17Gly)
c.2291A>G (p.Asp764Gly)
c.142A>G
n.518A>G
c.275A>G (p.Asp92Gly)
c.2549A>G (p.Asp850Gly)
c.1520A>G (p.Asp507Gly)
c.1103A>G (p.Asp368Gly)
n.3003A>G
n.3929A>G
c.2660A>G (p.Asp887Gly)
c.2843A>G (p.Asp948Gly)
c.2648A>G (p.Asp883Gly)
c.2762A>G (p.Asp921Gly)
c.2927A>G (p.Asp976Gly)
c.3056A>G (p.Asp1019Gly)
c.2756A>G (p.Asp919Gly)
c.2720A>G (p.Asp907Gly)
c.2828A>G (p.Asp943Gly)
19g.10354104T>GCA9192912TYK2c.*1195A>C (n.*1195A>C)
c.2846A>C (p.Asp949Ala)
n.4222A>C
n.3260A>C
c.*2397A>C (n.*2397A>C)
c.*888A>C (n.*888A>C)
n.4305A>C
n.948A>C
c.*1951A>C (n.*1951A>C)
c.52A>C
c.50A>C (p.Asp17Ala)
c.2291A>C (p.Asp764Ala)
c.142A>C
n.518A>C
c.275A>C (p.Asp92Ala)
c.2549A>C (p.Asp850Ala)
c.1520A>C (p.Asp507Ala)
c.1103A>C (p.Asp368Ala)
n.3003A>C
n.3929A>C
c.2660A>C (p.Asp887Ala)
c.2843A>C (p.Asp948Ala)
c.2648A>C (p.Asp883Ala)
c.2762A>C (p.Asp921Ala)
c.2927A>C (p.Asp976Ala)
c.3056A>C (p.Asp1019Ala)
c.2756A>C (p.Asp919Ala)
c.2720A>C (p.Asp907Ala)
c.2828A>C (p.Asp943Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354104T=CA2322388004TYK2c.*1195A= (n.*1195A=)
c.2846A= (p.Asp949=)
n.4222A=
n.3260A=
c.*2397A= (n.*2397A=)
c.*888A= (n.*888A=)
n.4305A=
n.948A=
c.*1951A= (n.*1951A=)
c.52A=
c.50A= (p.Asp17=)
c.2291A= (p.Asp764=)
c.142A=
n.518A=
c.275A= (p.Asp92=)
c.2549A= (p.Asp850=)
c.1520A= (p.Asp507=)
c.1103A= (p.Asp368=)
n.3003A=
n.3929A=
c.2660A= (p.Asp887=)
c.2843A= (p.Asp948=)
c.2648A= (p.Asp883=)
c.2762A= (p.Asp921=)
c.2927A= (p.Asp976=)
c.3056A= (p.Asp1019=)
c.2756A= (p.Asp919=)
c.2720A= (p.Asp907=)
c.2828A= (p.Asp943=)
19g.10354105C>ACA403988032TYK2c.*1194G>T (n.*1194G>T)
c.2845G>T (p.Asp949Tyr)
n.4221G>T
n.3259G>T
c.*2396G>T (n.*2396G>T)
c.*887G>T (n.*887G>T)
n.4304G>T
n.947G>T
c.*1950G>T (n.*1950G>T)
c.51G>T
c.49G>T (p.Asp17Tyr)
c.2290G>T (p.Asp764Tyr)
c.141G>T
n.517G>T
c.274G>T (p.Asp92Tyr)
c.2548G>T (p.Asp850Tyr)
c.1519G>T (p.Asp507Tyr)
c.1102G>T (p.Asp368Tyr)
n.3002G>T
n.3928G>T
c.2659G>T (p.Asp887Tyr)
c.2842G>T (p.Asp948Tyr)
c.2647G>T (p.Asp883Tyr)
c.2761G>T (p.Asp921Tyr)
c.2926G>T (p.Asp976Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2755G>T (p.Asp919Tyr)
c.2719G>T (p.Asp907Tyr)
c.2827G>T (p.Asp943Tyr)
19g.10354105C>GCA403988036TYK2c.*1194G>C (n.*1194G>C)
c.2845G>C (p.Asp949His)
n.4221G>C
n.3259G>C
c.*2396G>C (n.*2396G>C)
c.*887G>C (n.*887G>C)
n.4304G>C
n.947G>C
c.*1950G>C (n.*1950G>C)
c.51G>C
c.49G>C (p.Asp17His)
c.2290G>C (p.Asp764His)
c.141G>C
n.517G>C
c.274G>C (p.Asp92His)
c.2548G>C (p.Asp850His)
c.1519G>C (p.Asp507His)
c.1102G>C (p.Asp368His)
n.3002G>C
n.3928G>C
c.2659G>C (p.Asp887His)
c.2842G>C (p.Asp948His)
c.2647G>C (p.Asp883His)
c.2761G>C (p.Asp921His)
c.2926G>C (p.Asp976His)
c.3055G>C (p.Asp1019His)
c.2755G>C (p.Asp919His)
c.2719G>C (p.Asp907His)
c.2827G>C (p.Asp943His)
19g.10354105C>TCA403988040TYK2c.*1194G>A (n.*1194G>A)
c.2845G>A (p.Asp949Asn)
n.4221G>A
n.3259G>A
c.*2396G>A (n.*2396G>A)
c.*887G>A (n.*887G>A)
n.4304G>A
n.947G>A
c.*1950G>A (n.*1950G>A)
c.51G>A
c.49G>A (p.Asp17Asn)
c.2290G>A (p.Asp764Asn)
c.141G>A
n.517G>A
c.274G>A (p.Asp92Asn)
c.2548G>A (p.Asp850Asn)
c.1519G>A (p.Asp507Asn)
c.1102G>A (p.Asp368Asn)
n.3002G>A
n.3928G>A
c.2659G>A (p.Asp887Asn)
c.2842G>A (p.Asp948Asn)
c.2647G>A (p.Asp883Asn)
c.2761G>A (p.Asp921Asn)
c.2926G>A (p.Asp976Asn)
c.3055G>A (p.Asp1019Asn)
c.2755G>A (p.Asp919Asn)
c.2719G>A (p.Asp907Asn)
c.2827G>A (p.Asp943Asn)
19g.10354106A=CA2322388005TYK2c.*1193T= (n.*1193T=)
c.2844T= (p.Ile948=)
n.4220T=
n.3258T=
c.*2395T= (n.*2395T=)
c.*886T= (n.*886T=)
n.4303T=
n.946T=
c.*1949T= (n.*1949T=)
c.50T=
c.48T= (p.Ile16=)
c.2289T= (p.Ile763=)
c.140T=
n.516T=
c.273T= (p.Ile91=)
c.2547T= (p.Ile849=)
c.1518T= (p.Ile506=)
c.1101T= (p.Ile367=)
n.3001T=
n.3927T=
c.2658T= (p.Ile886=)
c.2841T= (p.Ile947=)
c.2646T= (p.Ile882=)
c.2760T= (p.Ile920=)
c.2925T= (p.Ile975=)
c.3054T= (p.Ile1018=)
c.2754T= (p.Ile918=)
c.2718T= (p.Ile906=)
c.2826T= (p.Ile942=)
19g.10354106A>CCA403988043TYK2c.*1193T>G (n.*1193T>G)
c.2844T>G (p.Ile948Met)
n.4220T>G
n.3258T>G
c.*2395T>G (n.*2395T>G)
c.*886T>G (n.*886T>G)
n.4303T>G
n.946T>G
c.*1949T>G (n.*1949T>G)
c.50T>G
c.48T>G (p.Ile16Met)
c.2289T>G (p.Ile763Met)
c.140T>G
n.516T>G
c.273T>G (p.Ile91Met)
c.2547T>G (p.Ile849Met)
c.1518T>G (p.Ile506Met)
c.1101T>G (p.Ile367Met)
n.3001T>G
n.3927T>G
c.2658T>G (p.Ile886Met)
c.2841T>G (p.Ile947Met)
c.2646T>G (p.Ile882Met)
c.2760T>G (p.Ile920Met)
c.2925T>G (p.Ile975Met)
c.3054T>G (p.Ile1018Met)
c.2754T>G (p.Ile918Met)
c.2718T>G (p.Ile906Met)
c.2826T>G (p.Ile942Met)
19g.10354106A>GCA505373604TYK2c.*1193T>C (n.*1193T>C)
c.2844T>C (p.Ile948=)
n.4220T>C
n.3258T>C
c.*2395T>C (n.*2395T>C)
c.*886T>C (n.*886T>C)
n.4303T>C
n.946T>C
c.*1949T>C (n.*1949T>C)
c.50T>C
c.48T>C (p.Ile16=)
c.2289T>C (p.Ile763=)
c.140T>C
n.516T>C
c.273T>C (p.Ile91=)
c.2547T>C (p.Ile849=)
c.1518T>C (p.Ile506=)
c.1101T>C (p.Ile367=)
n.3001T>C
n.3927T>C
c.2658T>C (p.Ile886=)
c.2841T>C (p.Ile947=)
c.2646T>C (p.Ile882=)
c.2760T>C (p.Ile920=)
c.2925T>C (p.Ile975=)
c.3054T>C (p.Ile1018=)
c.2754T>C (p.Ile918=)
c.2718T>C (p.Ile906=)
c.2826T>C (p.Ile942=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.10354106A>TCA505373606TYK2c.*1193T>A (n.*1193T>A)
c.2844T>A (p.Ile948=)
n.4220T>A
n.3258T>A
c.*2395T>A (n.*2395T>A)
c.*886T>A (n.*886T>A)
n.4303T>A
n.946T>A
c.*1949T>A (n.*1949T>A)
c.50T>A
c.48T>A (p.Ile16=)
c.2289T>A (p.Ile763=)
c.140T>A
n.516T>A
c.273T>A (p.Ile91=)
c.2547T>A (p.Ile849=)
c.1518T>A (p.Ile506=)
c.1101T>A (p.Ile367=)
n.3001T>A
n.3927T>A
c.2658T>A (p.Ile886=)
c.2841T>A (p.Ile947=)
c.2646T>A (p.Ile882=)
c.2760T>A (p.Ile920=)
c.2925T>A (p.Ile975=)
c.3054T>A (p.Ile1018=)
c.2754T>A (p.Ile918=)
c.2718T>A (p.Ile906=)
c.2826T>A (p.Ile942=)
19g.10354107A=CA2322388006TYK2c.*1192T= (n.*1192T=)
c.2843T= (p.Ile948=)
n.4219T=
n.3257T=
c.*2394T= (n.*2394T=)
c.*885T= (n.*885T=)
n.4302T=
n.945T=
c.*1948T= (n.*1948T=)
c.49T=
c.47T= (p.Ile16=)
c.2288T= (p.Ile763=)
c.139T=
n.515T=
c.272T= (p.Ile91=)
c.2546T= (p.Ile849=)
c.1517T= (p.Ile506=)
c.1100T= (p.Ile367=)
n.3000T=
n.3926T=
c.2657T= (p.Ile886=)
c.2840T= (p.Ile947=)
c.2645T= (p.Ile882=)
c.2759T= (p.Ile920=)
c.2924T= (p.Ile975=)
c.3053T= (p.Ile1018=)
c.2753T= (p.Ile918=)
c.2717T= (p.Ile906=)
c.2825T= (p.Ile942=)
19g.10354107A>CCA403988046TYK2c.*1192T>G (n.*1192T>G)
c.2843T>G (p.Ile948Ser)
n.4219T>G
n.3257T>G
c.*2394T>G (n.*2394T>G)
c.*885T>G (n.*885T>G)
n.4302T>G
n.945T>G
c.*1948T>G (n.*1948T>G)
c.49T>G
c.47T>G (p.Ile16Ser)
c.2288T>G (p.Ile763Ser)
c.139T>G
n.515T>G
c.272T>G (p.Ile91Ser)
c.2546T>G (p.Ile849Ser)
c.1517T>G (p.Ile506Ser)
c.1100T>G (p.Ile367Ser)
n.3000T>G
n.3926T>G
c.2657T>G (p.Ile886Ser)
c.2840T>G (p.Ile947Ser)
c.2645T>G (p.Ile882Ser)
c.2759T>G (p.Ile920Ser)
c.2924T>G (p.Ile975Ser)
c.3053T>G (p.Ile1018Ser)
c.2753T>G (p.Ile918Ser)
c.2717T>G (p.Ile906Ser)
c.2825T>G (p.Ile942Ser)
19g.10354107A>GCA9192913TYK2c.*1192T>C (n.*1192T>C)
c.2843T>C (p.Ile948Thr)
n.4219T>C
n.3257T>C
c.*2394T>C (n.*2394T>C)
c.*885T>C (n.*885T>C)
n.4302T>C
n.945T>C
c.*1948T>C (n.*1948T>C)
c.49T>C
c.47T>C (p.Ile16Thr)
c.2288T>C (p.Ile763Thr)
c.139T>C
n.515T>C
c.272T>C (p.Ile91Thr)
c.2546T>C (p.Ile849Thr)
c.1517T>C (p.Ile506Thr)
c.1100T>C (p.Ile367Thr)
n.3000T>C
n.3926T>C
c.2657T>C (p.Ile886Thr)
c.2840T>C (p.Ile947Thr)
c.2645T>C (p.Ile882Thr)
c.2759T>C (p.Ile920Thr)
c.2924T>C (p.Ile975Thr)
c.3053T>C (p.Ile1018Thr)
c.2753T>C (p.Ile918Thr)
c.2717T>C (p.Ile906Thr)
c.2825T>C (p.Ile942Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10354107A>TCA403988050TYK2c.*1192T>A (n.*1192T>A)
c.2843T>A (p.Ile948Asn)
n.4219T>A
n.3257T>A
c.*2394T>A (n.*2394T>A)
c.*885T>A (n.*885T>A)
n.4302T>A
n.945T>A
c.*1948T>A (n.*1948T>A)
c.49T>A
c.47T>A (p.Ile16Asn)
c.2288T>A (p.Ile763Asn)
c.139T>A
n.515T>A
c.272T>A (p.Ile91Asn)
c.2546T>A (p.Ile849Asn)
c.1517T>A (p.Ile506Asn)
c.1100T>A (p.Ile367Asn)
n.3000T>A
n.3926T>A
c.2657T>A (p.Ile886Asn)
c.2840T>A (p.Ile947Asn)
c.2645T>A (p.Ile882Asn)
c.2759T>A (p.Ile920Asn)
c.2924T>A (p.Ile975Asn)
c.3053T>A (p.Ile1018Asn)
c.2753T>A (p.Ile918Asn)
c.2717T>A (p.Ile906Asn)
c.2825T>A (p.Ile942Asn)
19g.10354108T>ACA403988055TYK2c.*1191A>T (n.*1191A>T)
c.2842A>T (p.Ile948Phe)
n.4218A>T
n.3256A>T
c.*2393A>T (n.*2393A>T)
c.*884A>T (n.*884A>T)
n.4301A>T
n.944A>T
c.*1947A>T (n.*1947A>T)
c.48A>T
c.46A>T (p.Ile16Phe)
c.2287A>T (p.Ile763Phe)
c.138A>T
n.514A>T
c.271A>T (p.Ile91Phe)
c.2545A>T (p.Ile849Phe)
c.1516A>T (p.Ile506Phe)
c.1099A>T (p.Ile367Phe)
n.2999A>T
n.3925A>T
c.2656A>T (p.Ile886Phe)
c.2839A>T (p.Ile947Phe)
c.2644A>T (p.Ile882Phe)
c.2758A>T (p.Ile920Phe)
c.2923A>T (p.Ile975Phe)
c.3052A>T (p.Ile1018Phe)
c.2752A>T (p.Ile918Phe)
c.2716A>T (p.Ile906Phe)
c.2824A>T (p.Ile942Phe)
19g.10354108T>CCA403988059TYK2c.*1191A>G (n.*1191A>G)
c.2842A>G (p.Ile948Val)
n.4218A>G
n.3256A>G
c.*2393A>G (n.*2393A>G)
c.*884A>G (n.*884A>G)
n.4301A>G
n.944A>G
c.*1947A>G (n.*1947A>G)
c.48A>G
c.46A>G (p.Ile16Val)
c.2287A>G (p.Ile763Val)
c.138A>G
n.514A>G
c.271A>G (p.Ile91Val)
c.2545A>G (p.Ile849Val)
c.1516A>G (p.Ile506Val)
c.1099A>G (p.Ile367Val)
n.2999A>G
n.3925A>G
c.2656A>G (p.Ile886Val)
c.2839A>G (p.Ile947Val)
c.2644A>G (p.Ile882Val)
c.2758A>G (p.Ile920Val)
c.2923A>G (p.Ile975Val)
c.3052A>G (p.Ile1018Val)
c.2752A>G (p.Ile918Val)
c.2716A>G (p.Ile906Val)
c.2824A>G (p.Ile942Val)
 dbSNP gnomAD v4
19g.10354108T>GCA403988061TYK2c.*1191A>C (n.*1191A>C)
c.2842A>C (p.Ile948Leu)
n.4218A>C
n.3256A>C
c.*2393A>C (n.*2393A>C)
c.*884A>C (n.*884A>C)
n.4301A>C
n.944A>C
c.*1947A>C (n.*1947A>C)
c.48A>C
c.46A>C (p.Ile16Leu)
c.2287A>C (p.Ile763Leu)
c.138A>C
n.514A>C
c.271A>C (p.Ile91Leu)
c.2545A>C (p.Ile849Leu)
c.1516A>C (p.Ile506Leu)
c.1099A>C (p.Ile367Leu)
n.2999A>C
n.3925A>C
c.2656A>C (p.Ile886Leu)
c.2839A>C (p.Ile947Leu)
c.2644A>C (p.Ile882Leu)
c.2758A>C (p.Ile920Leu)
c.2923A>C (p.Ile975Leu)
c.3052A>C (p.Ile1018Leu)
c.2752A>C (p.Ile918Leu)
c.2716A>C (p.Ile906Leu)
c.2824A>C (p.Ile942Leu)
19g.10354108T=CA2322388007TYK2c.*1191A= (n.*1191A=)
c.2842A= (p.Ile948=)
n.4218A=
n.3256A=
c.*2393A= (n.*2393A=)
c.*884A= (n.*884A=)
n.4301A=
n.944A=
c.*1947A= (n.*1947A=)
c.48A=
c.46A= (p.Ile16=)
c.2287A= (p.Ile763=)
c.138A=
n.514A=
c.271A= (p.Ile91=)
c.2545A= (p.Ile849=)
c.1516A= (p.Ile506=)
c.1099A= (p.Ile367=)
n.2999A=
n.3925A=
c.2656A= (p.Ile886=)
c.2839A= (p.Ile947=)
c.2644A= (p.Ile882=)
c.2758A= (p.Ile920=)
c.2923A= (p.Ile975=)
c.3052A= (p.Ile1018=)
c.2752A= (p.Ile918=)
c.2716A= (p.Ile906=)
c.2824A= (p.Ile942=)
19g.10354109C>ACA403988065TYK2c.*1190G>T (n.*1190G>T)
c.2841G>T (p.Glu947Asp)
n.4217G>T
n.3255G>T
c.*2392G>T (n.*2392G>T)
c.*883G>T (n.*883G>T)
n.4300G>T
n.943G>T
c.*1946G>T (n.*1946G>T)
c.47G>T
c.45G>T (p.Glu15Asp)
c.2286G>T (p.Glu762Asp)
c.137G>T
n.513G>T
c.270G>T (p.Glu90Asp)
c.2544G>T (p.Glu848Asp)
c.1515G>T (p.Glu505Asp)
c.1098G>T (p.Glu366Asp)
n.2998G>T
n.3924G>T
c.2655G>T (p.Glu885Asp)
c.2838G>T (p.Glu946Asp)
c.2643G>T (p.Glu881Asp)
c.2757G>T (p.Glu919Asp)
c.2922G>T (p.Glu974Asp)
c.3051G>T (p.Glu1017Asp)
c.2751G>T (p.Glu917Asp)
c.2715G>T (p.Glu905Asp)
c.2823G>T (p.Glu941Asp)
19g.10354109C>GCA403988068TYK2c.*1190G>C (n.*1190G>C)
c.2841G>C (p.Glu947Asp)
n.4217G>C
n.3255G>C
c.*2392G>C (n.*2392G>C)
c.*883G>C (n.*883G>C)
n.4300G>C
n.943G>C
c.*1946G>C (n.*1946G>C)
c.47G>C
c.45G>C (p.Glu15Asp)
c.2286G>C (p.Glu762Asp)
c.137G>C
n.513G>C
c.270G>C (p.Glu90Asp)
c.2544G>C (p.Glu848Asp)
c.1515G>C (p.Glu505Asp)
c.1098G>C (p.Glu366Asp)
n.2998G>C
n.3924G>C
c.2655G>C (p.Glu885Asp)
c.2838G>C (p.Glu946Asp)
c.2643G>C (p.Glu881Asp)
c.2757G>C (p.Glu919Asp)
c.2922G>C (p.Glu974Asp)
c.3051G>C (p.Glu1017Asp)
c.2751G>C (p.Glu917Asp)
c.2715G>C (p.Glu905Asp)
c.2823G>C (p.Glu941Asp)
19g.10354109C>TCA505373616TYK2c.*1190G>A (n.*1190G>A)
c.2841G>A (p.Glu947=)
n.4217G>A
n.3255G>A
c.*2392G>A (n.*2392G>A)
c.*883G>A (n.*883G>A)
n.4300G>A
n.943G>A
c.*1946G>A (n.*1946G>A)
c.47G>A
c.45G>A (p.Glu15=)
c.2286G>A (p.Glu762=)
c.137G>A
n.513G>A
c.270G>A (p.Glu90=)
c.2544G>A (p.Glu848=)
c.1515G>A (p.Glu505=)
c.1098G>A (p.Glu366=)
n.2998G>A
n.3924G>A
c.2655G>A (p.Glu885=)
c.2838G>A (p.Glu946=)
c.2643G>A (p.Glu881=)
c.2757G>A (p.Glu919=)
c.2922G>A (p.Glu974=)
c.3051G>A (p.Glu1017=)
c.2751G>A (p.Glu917=)
c.2715G>A (p.Glu905=)
c.2823G>A (p.Glu941=)
19g.10354111_10354113delCA2582371512TYK2c.*1188_*1190del (n.*1188_*1190del)
c.2839_2841del (p.Glu947del)
n.4215_4217del
n.3253_3255del
c.*2390_*2392del (n.*2390_*2392del)
c.*881_*883del (n.*881_*883del)
n.4298_4300del
n.941_943del
c.*1944_*1946del (n.*1944_*1946del)
c.45_47del
c.43_45del (p.Glu15del)
c.2284_2286del (p.Glu762del)
c.135_137del
n.511_513del
c.268_270del (p.Glu90del)
c.2542_2544del (p.Glu848del)
c.1513_1515del (p.Glu505del)
c.1096_1098del (p.Glu366del)
n.2996_2998del
n.3922_3924del
c.2653_2655del (p.Glu885del)
c.2836_2838del (p.Glu946del)
c.2641_2643del (p.Glu881del)
c.2755_2757del (p.Glu919del)
c.2920_2922del (p.Glu974del)
c.3049_3051del (p.Glu1017del)
c.2749_2751del (p.Glu917del)
c.2713_2715del (p.Glu905del)
c.2821_2823del (p.Glu941del)
 gnomAD v4
19g.10354110T>ACA403988074TYK2c.*1189A>T (n.*1189A>T)
c.2840A>T (p.Glu947Val)
n.4216A>T
n.3254A>T
c.*2391A>T (n.*2391A>T)
c.*882A>T (n.*882A>T)
n.4299A>T
n.942A>T
c.*1945A>T (n.*1945A>T)
c.46A>T
c.44A>T (p.Glu15Val)
c.2285A>T (p.Glu762Val)
c.136A>T
n.512A>T
c.269A>T (p.Glu90Val)
c.2543A>T (p.Glu848Val)
c.1514A>T (p.Glu505Val)
c.1097A>T (p.Glu366Val)
n.2997A>T
n.3923A>T
c.2654A>T (p.Glu885Val)
c.2837A>T (p.Glu946Val)
c.2642A>T (p.Glu881Val)
c.2756A>T (p.Glu919Val)
c.2921A>T (p.Glu974Val)
c.3050A>T (p.Glu1017Val)
c.2750A>T (p.Glu917Val)
c.2714A>T (p.Glu905Val)
c.2822A>T (p.Glu941Val)
19g.10354110T>CCA403988081TYK2c.*1189A>G (n.*1189A>G)
c.2840A>G (p.Glu947Gly)
n.4216A>G
n.3254A>G
c.*2391A>G (n.*2391A>G)
c.*882A>G (n.*882A>G)
n.4299A>G
n.942A>G
c.*1945A>G (n.*1945A>G)
c.46A>G
c.44A>G (p.Glu15Gly)
c.2285A>G (p.Glu762Gly)
c.136A>G
n.512A>G
c.269A>G (p.Glu90Gly)
c.2543A>G (p.Glu848Gly)
c.1514A>G (p.Glu505Gly)
c.1097A>G (p.Glu366Gly)
n.2997A>G
n.3923A>G
c.2654A>G (p.Glu885Gly)
c.2837A>G (p.Glu946Gly)
c.2642A>G (p.Glu881Gly)
c.2756A>G (p.Glu919Gly)
c.2921A>G (p.Glu974Gly)
c.3050A>G (p.Glu1017Gly)
c.2750A>G (p.Glu917Gly)
c.2714A>G (p.Glu905Gly)
c.2822A>G (p.Glu941Gly)
19g.10354110T>GCA403988077TYK2c.*1189A>C (n.*1189A>C)
c.2840A>C (p.Glu947Ala)
n.4216A>C
n.3254A>C
c.*2391A>C (n.*2391A>C)
c.*882A>C (n.*882A>C)
n.4299A>C
n.942A>C
c.*1945A>C (n.*1945A>C)
c.46A>C
c.44A>C (p.Glu15Ala)
c.2285A>C (p.Glu762Ala)
c.136A>C
n.512A>C
c.269A>C (p.Glu90Ala)
c.2543A>C (p.Glu848Ala)
c.1514A>C (p.Glu505Ala)
c.1097A>C (p.Glu366Ala)
n.2997A>C
n.3923A>C
c.2654A>C (p.Glu885Ala)
c.2837A>C (p.Glu946Ala)
c.2642A>C (p.Glu881Ala)
c.2756A>C (p.Glu919Ala)
c.2921A>C (p.Glu974Ala)
c.3050A>C (p.Glu1017Ala)
c.2750A>C (p.Glu917Ala)
c.2714A>C (p.Glu905Ala)
c.2822A>C (p.Glu941Ala)
19g.10354111C>ACA403988085TYK2c.*1188G>T (n.*1188G>T)
c.2839G>T (p.Glu947Ter)
n.4215G>T
n.3253G>T
c.*2390G>T (n.*2390G>T)
c.*881G>T (n.*881G>T)
n.4298G>T
n.941G>T
c.*1944G>T (n.*1944G>T)
c.45G>T
c.43G>T (p.Glu15Ter)
c.2284G>T (p.Glu762Ter)
c.135G>T
n.511G>T
c.268G>T (p.Glu90Ter)
c.2542G>T (p.Glu848Ter)
c.1513G>T (p.Glu505Ter)
c.1096G>T (p.Glu366Ter)
n.2996G>T
n.3922G>T
c.2653G>T (p.Glu885Ter)
c.2836G>T (p.Glu946Ter)
c.2641G>T (p.Glu881Ter)
c.2755G>T (p.Glu919Ter)
c.2920G>T (p.Glu974Ter)
c.3049G>T (p.Glu1017Ter)
c.2749G>T (p.Glu917Ter)
c.2713G>T (p.Glu905Ter)
c.2821G>T (p.Glu941Ter)
19g.10354111C=CA2322388008TYK2c.*1188G= (n.*1188G=)
c.2839G= (p.Glu947=)
n.4215G=
n.3253G=
c.*2390G= (n.*2390G=)
c.*881G= (n.*881G=)
n.4298G=
n.941G=
c.*1944G= (n.*1944G=)
c.45G=
c.43G= (p.Glu15=)
c.2284G= (p.Glu762=)
c.135G=
n.511G=
c.268G= (p.Glu90=)
c.2542G= (p.Glu848=)
c.1513G= (p.Glu505=)
c.1096G= (p.Glu366=)
n.2996G=
n.3922G=
c.2653G= (p.Glu885=)
c.2836G= (p.Glu946=)
c.2641G= (p.Glu881=)
c.2755G= (p.Glu919=)
c.2920G= (p.Glu974=)
c.3049G= (p.Glu1017=)
c.2749G= (p.Glu917=)
c.2713G= (p.Glu905=)
c.2821G= (p.Glu941=)
19g.10354111C>GCA403988088TYK2c.*1188G>C (n.*1188G>C)
c.2839G>C (p.Glu947Gln)
n.4215G>C
n.3253G>C
c.*2390G>C (n.*2390G>C)
c.*881G>C (n.*881G>C)
n.4298G>C
n.941G>C
c.*1944G>C (n.*1944G>C)
c.45G>C
c.43G>C (p.Glu15Gln)
c.2284G>C (p.Glu762Gln)
c.135G>C
n.511G>C
c.268G>C (p.Glu90Gln)
c.2542G>C (p.Glu848Gln)
c.1513G>C (p.Glu505Gln)
c.1096G>C (p.Glu366Gln)
n.2996G>C
n.3922G>C
c.2653G>C (p.Glu885Gln)
c.2836G>C (p.Glu946Gln)
c.2641G>C (p.Glu881Gln)
c.2755G>C (p.Glu919Gln)
c.2920G>C (p.Glu974Gln)
c.3049G>C (p.Glu1017Gln)
c.2749G>C (p.Glu917Gln)
c.2713G>C (p.Glu905Gln)
c.2821G>C (p.Glu941Gln)
19g.10354111C>TCA403988087TYK2c.*1188G>A (n.*1188G>A)
c.2839G>A (p.Glu947Lys)
n.4215G>A
n.3253G>A
c.*2390G>A (n.*2390G>A)
c.*881G>A (n.*881G>A)
n.4298G>A
n.941G>A
c.*1944G>A (n.*1944G>A)
c.45G>A
c.43G>A (p.Glu15Lys)
c.2284G>A (p.Glu762Lys)
c.135G>A
n.511G>A
c.268G>A (p.Glu90Lys)
c.2542G>A (p.Glu848Lys)
c.1513G>A (p.Glu505Lys)
c.1096G>A (p.Glu366Lys)
n.2996G>A
n.3922G>A
c.2653G>A (p.Glu885Lys)
c.2836G>A (p.Glu946Lys)
c.2641G>A (p.Glu881Lys)
c.2755G>A (p.Glu919Lys)
c.2920G>A (p.Glu974Lys)
c.3049G>A (p.Glu1017Lys)
c.2749G>A (p.Glu917Lys)
c.2713G>A (p.Glu905Lys)
c.2821G>A (p.Glu941Lys)
 dbSNP gnomAD v2
19g.10354112C>ACA403988091TYK2c.*1187G>T (n.*1187G>T)
c.2838G>T (p.Gln946His)
n.4214G>T
n.3252G>T
c.*2389G>T (n.*2389G>T)
c.*880G>T (n.*880G>T)
n.4297G>T
n.940G>T
c.*1943G>T (n.*1943G>T)
c.44G>T
c.42G>T (p.Gln14His)
c.2283G>T (p.Gln761His)
c.134G>T
n.510G>T
c.267G>T (p.Gln89His)
c.2541G>T (p.Gln847His)
c.1512G>T (p.Gln504His)
c.1095G>T (p.Gln365His)
n.2995G>T
n.3921G>T
c.2652G>T (p.Gln884His)
c.2835G>T (p.Gln945His)
c.2640G>T (p.Gln880His)
c.2754G>T (p.Gln918His)
c.2919G>T (p.Gln973His)
c.3048G>T (p.Gln1016His)
c.2748G>T (p.Gln916His)
c.2712G>T (p.Gln904His)
c.2820G>T (p.Gln940His)
19g.10354112C=CA2322388009TYK2c.*1187G= (n.*1187G=)
c.2838G= (p.Gln946=)
n.4214G=
n.3252G=
c.*2389G= (n.*2389G=)
c.*880G= (n.*880G=)
n.4297G=
n.940G=
c.*1943G= (n.*1943G=)
c.44G=
c.42G= (p.Gln14=)
c.2283G= (p.Gln761=)
c.134G=
n.510G=
c.267G= (p.Gln89=)
c.2541G= (p.Gln847=)
c.1512G= (p.Gln504=)
c.1095G= (p.Gln365=)
n.2995G=
n.3921G=
c.2652G= (p.Gln884=)
c.2835G= (p.Gln945=)
c.2640G= (p.Gln880=)
c.2754G= (p.Gln918=)
c.2919G= (p.Gln973=)
c.3048G= (p.Gln1016=)
c.2748G= (p.Gln916=)
c.2712G= (p.Gln904=)
c.2820G= (p.Gln940=)
19g.10354112C>GCA403988097TYK2c.*1187G>C (n.*1187G>C)
c.2838G>C (p.Gln946His)
n.4214G>C
n.3252G>C
c.*2389G>C (n.*2389G>C)
c.*880G>C (n.*880G>C)
n.4297G>C
n.940G>C
c.*1943G>C (n.*1943G>C)
c.44G>C
c.42G>C (p.Gln14His)
c.2283G>C (p.Gln761His)
c.134G>C
n.510G>C
c.267G>C (p.Gln89His)
c.2541G>C (p.Gln847His)
c.1512G>C (p.Gln504His)
c.1095G>C (p.Gln365His)
n.2995G>C
n.3921G>C
c.2652G>C (p.Gln884His)
c.2835G>C (p.Gln945His)
c.2640G>C (p.Gln880His)
c.2754G>C (p.Gln918His)
c.2919G>C (p.Gln973His)
c.3048G>C (p.Gln1016His)
c.2748G>C (p.Gln916His)
c.2712G>C (p.Gln904His)
c.2820G>C (p.Gln940His)
19g.10354112C>TCA9192914TYK2c.*1187G>A (n.*1187G>A)
c.2838G>A (p.Gln946=)
n.4214G>A
n.3252G>A
c.*2389G>A (n.*2389G>A)
c.*880G>A (n.*880G>A)
n.4297G>A
n.940G>A
c.*1943G>A (n.*1943G>A)
c.44G>A
c.42G>A (p.Gln14=)
c.2283G>A (p.Gln761=)
c.134G>A
n.510G>A
c.267G>A (p.Gln89=)
c.2541G>A (p.Gln847=)
c.1512G>A (p.Gln504=)
c.1095G>A (p.Gln365=)
n.2995G>A
n.3921G>A
c.2652G>A (p.Gln884=)
c.2835G>A (p.Gln945=)
c.2640G>A (p.Gln880=)
c.2754G>A (p.Gln918=)
c.2919G>A (p.Gln973=)
c.3048G>A (p.Gln1016=)
c.2748G>A (p.Gln916=)
c.2712G>A (p.Gln904=)
c.2820G>A (p.Gln940=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354113T>ACA403988102TYK2c.*1186A>T (n.*1186A>T)
c.2837A>T (p.Gln946Leu)
n.4213A>T
n.3251A>T
c.*2388A>T (n.*2388A>T)
c.*879A>T (n.*879A>T)
n.4296A>T
n.939A>T
c.*1942A>T (n.*1942A>T)
c.43A>T
c.41A>T (p.Gln14Leu)
c.2282A>T (p.Gln761Leu)
c.133A>T
n.509A>T
c.266A>T (p.Gln89Leu)
c.2540A>T (p.Gln847Leu)
c.1511A>T (p.Gln504Leu)
c.1094A>T (p.Gln365Leu)
n.2994A>T
n.3920A>T
c.2651A>T (p.Gln884Leu)
c.2834A>T (p.Gln945Leu)
c.2639A>T (p.Gln880Leu)
c.2753A>T (p.Gln918Leu)
c.2918A>T (p.Gln973Leu)
c.3047A>T (p.Gln1016Leu)
c.2747A>T (p.Gln916Leu)
c.2711A>T (p.Gln904Leu)
c.2819A>T (p.Gln940Leu)
19g.10354113T>CCA403988105TYK2c.*1186A>G (n.*1186A>G)
c.2837A>G (p.Gln946Arg)
n.4213A>G
n.3251A>G
c.*2388A>G (n.*2388A>G)
c.*879A>G (n.*879A>G)
n.4296A>G
n.939A>G
c.*1942A>G (n.*1942A>G)
c.43A>G
c.41A>G (p.Gln14Arg)
c.2282A>G (p.Gln761Arg)
c.133A>G
n.509A>G
c.266A>G (p.Gln89Arg)
c.2540A>G (p.Gln847Arg)
c.1511A>G (p.Gln504Arg)
c.1094A>G (p.Gln365Arg)
n.2994A>G
n.3920A>G
c.2651A>G (p.Gln884Arg)
c.2834A>G (p.Gln945Arg)
c.2639A>G (p.Gln880Arg)
c.2753A>G (p.Gln918Arg)
c.2918A>G (p.Gln973Arg)
c.3047A>G (p.Gln1016Arg)
c.2747A>G (p.Gln916Arg)
c.2711A>G (p.Gln904Arg)
c.2819A>G (p.Gln940Arg)
 gnomAD v4
19g.10354113T>GCA403988109TYK2c.*1186A>C (n.*1186A>C)
c.2837A>C (p.Gln946Pro)
n.4213A>C
n.3251A>C
c.*2388A>C (n.*2388A>C)
c.*879A>C (n.*879A>C)
n.4296A>C
n.939A>C
c.*1942A>C (n.*1942A>C)
c.43A>C
c.41A>C (p.Gln14Pro)
c.2282A>C (p.Gln761Pro)
c.133A>C
n.509A>C
c.266A>C (p.Gln89Pro)
c.2540A>C (p.Gln847Pro)
c.1511A>C (p.Gln504Pro)
c.1094A>C (p.Gln365Pro)
n.2994A>C
n.3920A>C
c.2651A>C (p.Gln884Pro)
c.2834A>C (p.Gln945Pro)
c.2639A>C (p.Gln880Pro)
c.2753A>C (p.Gln918Pro)
c.2918A>C (p.Gln973Pro)
c.3047A>C (p.Gln1016Pro)
c.2747A>C (p.Gln916Pro)
c.2711A>C (p.Gln904Pro)
c.2819A>C (p.Gln940Pro)
19g.10354114G>ACA403988112TYK2c.*1185C>T (n.*1185C>T)
c.2836C>T (p.Gln946Ter)
n.4212C>T
n.3250C>T
c.*2387C>T (n.*2387C>T)
c.*878C>T (n.*878C>T)
n.4295C>T
n.938C>T
c.*1941C>T (n.*1941C>T)
c.42C>T
c.40C>T (p.Gln14Ter)
c.2281C>T (p.Gln761Ter)
c.132C>T
n.508C>T
c.265C>T (p.Gln89Ter)
c.2539C>T (p.Gln847Ter)
c.1510C>T (p.Gln504Ter)
c.1093C>T (p.Gln365Ter)
n.2993C>T
n.3919C>T
c.2650C>T (p.Gln884Ter)
c.2833C>T (p.Gln945Ter)
c.2638C>T (p.Gln880Ter)
c.2752C>T (p.Gln918Ter)
c.2917C>T (p.Gln973Ter)
c.3046C>T (p.Gln1016Ter)
c.2746C>T (p.Gln916Ter)
c.2710C>T (p.Gln904Ter)
c.2818C>T (p.Gln940Ter)
19g.10354114G>CCA403988113TYK2c.*1185C>G (n.*1185C>G)
c.2836C>G (p.Gln946Glu)
n.4212C>G
n.3250C>G
c.*2387C>G (n.*2387C>G)
c.*878C>G (n.*878C>G)
n.4295C>G
n.938C>G
c.*1941C>G (n.*1941C>G)
c.42C>G
c.40C>G (p.Gln14Glu)
c.2281C>G (p.Gln761Glu)
c.132C>G
n.508C>G
c.265C>G (p.Gln89Glu)
c.2539C>G (p.Gln847Glu)
c.1510C>G (p.Gln504Glu)
c.1093C>G (p.Gln365Glu)
n.2993C>G
n.3919C>G
c.2650C>G (p.Gln884Glu)
c.2833C>G (p.Gln945Glu)
c.2638C>G (p.Gln880Glu)
c.2752C>G (p.Gln918Glu)
c.2917C>G (p.Gln973Glu)
c.3046C>G (p.Gln1016Glu)
c.2746C>G (p.Gln916Glu)
c.2710C>G (p.Gln904Glu)
c.2818C>G (p.Gln940Glu)
19g.10354114G>TCA403988115TYK2c.*1185C>A (n.*1185C>A)
c.2836C>A (p.Gln946Lys)
n.4212C>A
n.3250C>A
c.*2387C>A (n.*2387C>A)
c.*878C>A (n.*878C>A)
n.4295C>A
n.938C>A
c.*1941C>A (n.*1941C>A)
c.42C>A
c.40C>A (p.Gln14Lys)
c.2281C>A (p.Gln761Lys)
c.132C>A
n.508C>A
c.265C>A (p.Gln89Lys)
c.2539C>A (p.Gln847Lys)
c.1510C>A (p.Gln504Lys)
c.1093C>A (p.Gln365Lys)
n.2993C>A
n.3919C>A
c.2650C>A (p.Gln884Lys)
c.2833C>A (p.Gln945Lys)
c.2638C>A (p.Gln880Lys)
c.2752C>A (p.Gln918Lys)
c.2917C>A (p.Gln973Lys)
c.3046C>A (p.Gln1016Lys)
c.2746C>A (p.Gln916Lys)
c.2710C>A (p.Gln904Lys)
c.2818C>A (p.Gln940Lys)
 gnomAD v4
19g.10354115C>ACA403988117TYK2c.*1184G>T (n.*1184G>T)
c.2835G>T (p.Lys945Asn)
n.4211G>T
n.3249G>T
c.*2386G>T (n.*2386G>T)
c.*877G>T (n.*877G>T)
n.4294G>T
n.937G>T
c.*1940G>T (n.*1940G>T)
c.41G>T
c.39G>T (p.Lys13Asn)
c.2280G>T (p.Lys760Asn)
c.131G>T
n.507G>T
c.264G>T (p.Lys88Asn)
c.2538G>T (p.Lys846Asn)
c.1509G>T (p.Lys503Asn)
c.1092G>T (p.Lys364Asn)
n.2992G>T
n.3918G>T
c.2649G>T (p.Lys883Asn)
c.2832G>T (p.Lys944Asn)
c.2637G>T (p.Lys879Asn)
c.2751G>T (p.Lys917Asn)
c.2916G>T (p.Lys972Asn)
c.3045G>T (p.Lys1015Asn)
c.2745G>T (p.Lys915Asn)
c.2709G>T (p.Lys903Asn)
c.2817G>T (p.Lys939Asn)
19g.10354115C>GCA403988120TYK2c.*1184G>C (n.*1184G>C)
c.2835G>C (p.Lys945Asn)
n.4211G>C
n.3249G>C
c.*2386G>C (n.*2386G>C)
c.*877G>C (n.*877G>C)
n.4294G>C
n.937G>C
c.*1940G>C (n.*1940G>C)
c.41G>C
c.39G>C (p.Lys13Asn)
c.2280G>C (p.Lys760Asn)
c.131G>C
n.507G>C
c.264G>C (p.Lys88Asn)
c.2538G>C (p.Lys846Asn)
c.1509G>C (p.Lys503Asn)
c.1092G>C (p.Lys364Asn)
n.2992G>C
n.3918G>C
c.2649G>C (p.Lys883Asn)
c.2832G>C (p.Lys944Asn)
c.2637G>C (p.Lys879Asn)
c.2751G>C (p.Lys917Asn)
c.2916G>C (p.Lys972Asn)
c.3045G>C (p.Lys1015Asn)
c.2745G>C (p.Lys915Asn)
c.2709G>C (p.Lys903Asn)
c.2817G>C (p.Lys939Asn)
19g.10354115C>TCA505373647TYK2c.*1184G>A (n.*1184G>A)
c.2835G>A (p.Lys945=)
n.4211G>A
n.3249G>A
c.*2386G>A (n.*2386G>A)
c.*877G>A (n.*877G>A)
n.4294G>A
n.937G>A
c.*1940G>A (n.*1940G>A)
c.41G>A
c.39G>A (p.Lys13=)
c.2280G>A (p.Lys760=)
c.131G>A
n.507G>A
c.264G>A (p.Lys88=)
c.2538G>A (p.Lys846=)
c.1509G>A (p.Lys503=)
c.1092G>A (p.Lys364=)
n.2992G>A
n.3918G>A
c.2649G>A (p.Lys883=)
c.2832G>A (p.Lys944=)
c.2637G>A (p.Lys879=)
c.2751G>A (p.Lys917=)
c.2916G>A (p.Lys972=)
c.3045G>A (p.Lys1015=)
c.2745G>A (p.Lys915=)
c.2709G>A (p.Lys903=)
c.2817G>A (p.Lys939=)
 gnomAD v4
19g.10354116T>ACA403988124TYK2c.*1183A>T (n.*1183A>T)
c.2834A>T (p.Lys945Met)
n.4210A>T
n.3248A>T
c.*2385A>T (n.*2385A>T)
c.*876A>T (n.*876A>T)
n.4293A>T
n.936A>T
c.*1939A>T (n.*1939A>T)
c.40A>T
c.38A>T (p.Lys13Met)
c.2279A>T (p.Lys760Met)
c.130A>T
n.506A>T
c.263A>T (p.Lys88Met)
c.2537A>T (p.Lys846Met)
c.1508A>T (p.Lys503Met)
c.1091A>T (p.Lys364Met)
n.2991A>T
n.3917A>T
c.2648A>T (p.Lys883Met)
c.2831A>T (p.Lys944Met)
c.2636A>T (p.Lys879Met)
c.2750A>T (p.Lys917Met)
c.2915A>T (p.Lys972Met)
c.3044A>T (p.Lys1015Met)
c.2744A>T (p.Lys915Met)
c.2708A>T (p.Lys903Met)
c.2816A>T (p.Lys939Met)
19g.10354116T>CCA403988126TYK2c.*1183A>G (n.*1183A>G)
c.2834A>G (p.Lys945Arg)
n.4210A>G
n.3248A>G
c.*2385A>G (n.*2385A>G)
c.*876A>G (n.*876A>G)
n.4293A>G
n.936A>G
c.*1939A>G (n.*1939A>G)
c.40A>G
c.38A>G (p.Lys13Arg)
c.2279A>G (p.Lys760Arg)
c.130A>G
n.506A>G
c.263A>G (p.Lys88Arg)
c.2537A>G (p.Lys846Arg)
c.1508A>G (p.Lys503Arg)
c.1091A>G (p.Lys364Arg)
n.2991A>G
n.3917A>G
c.2648A>G (p.Lys883Arg)
c.2831A>G (p.Lys944Arg)
c.2636A>G (p.Lys879Arg)
c.2750A>G (p.Lys917Arg)
c.2915A>G (p.Lys972Arg)
c.3044A>G (p.Lys1015Arg)
c.2744A>G (p.Lys915Arg)
c.2708A>G (p.Lys903Arg)
c.2816A>G (p.Lys939Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.10354116T>GCA403988137TYK2c.*1183A>C (n.*1183A>C)
c.2834A>C (p.Lys945Thr)
n.4210A>C
n.3248A>C
c.*2385A>C (n.*2385A>C)
c.*876A>C (n.*876A>C)
n.4293A>C
n.936A>C
c.*1939A>C (n.*1939A>C)
c.40A>C
c.38A>C (p.Lys13Thr)
c.2279A>C (p.Lys760Thr)
c.130A>C
n.506A>C
c.263A>C (p.Lys88Thr)
c.2537A>C (p.Lys846Thr)
c.1508A>C (p.Lys503Thr)
c.1091A>C (p.Lys364Thr)
n.2991A>C
n.3917A>C
c.2648A>C (p.Lys883Thr)
c.2831A>C (p.Lys944Thr)
c.2636A>C (p.Lys879Thr)
c.2750A>C (p.Lys917Thr)
c.2915A>C (p.Lys972Thr)
c.3044A>C (p.Lys1015Thr)
c.2744A>C (p.Lys915Thr)
c.2708A>C (p.Lys903Thr)
c.2816A>C (p.Lys939Thr)
19g.10354116T=CA2322388010TYK2c.*1183A= (n.*1183A=)
c.2834A= (p.Lys945=)
n.4210A=
n.3248A=
c.*2385A= (n.*2385A=)
c.*876A= (n.*876A=)
n.4293A=
n.936A=
c.*1939A= (n.*1939A=)
c.40A=
c.38A= (p.Lys13=)
c.2279A= (p.Lys760=)
c.130A=
n.506A=
c.263A= (p.Lys88=)
c.2537A= (p.Lys846=)
c.1508A= (p.Lys503=)
c.1091A= (p.Lys364=)
n.2991A=
n.3917A=
c.2648A= (p.Lys883=)
c.2831A= (p.Lys944=)
c.2636A= (p.Lys879=)
c.2750A= (p.Lys917=)
c.2915A= (p.Lys972=)
c.3044A= (p.Lys1015=)
c.2744A= (p.Lys915=)
c.2708A= (p.Lys903=)
c.2816A= (p.Lys939=)
19g.10354117T>ACA403988152TYK2c.*1182A>T (n.*1182A>T)
c.2833A>T (p.Lys945Ter)
n.4209A>T
n.3247A>T
c.*2384A>T (n.*2384A>T)
c.*875A>T (n.*875A>T)
n.4292A>T
n.935A>T
c.*1938A>T (n.*1938A>T)
c.39A>T
c.37A>T (p.Lys13Ter)
c.2278A>T (p.Lys760Ter)
c.129A>T
n.505A>T
c.262A>T (p.Lys88Ter)
c.2536A>T (p.Lys846Ter)
c.1507A>T (p.Lys503Ter)
c.1090A>T (p.Lys364Ter)
n.2990A>T
n.3916A>T
c.2647A>T (p.Lys883Ter)
c.2830A>T (p.Lys944Ter)
c.2635A>T (p.Lys879Ter)
c.2749A>T (p.Lys917Ter)
c.2914A>T (p.Lys972Ter)
c.3043A>T (p.Lys1015Ter)
c.2743A>T (p.Lys915Ter)
c.2707A>T (p.Lys903Ter)
c.2815A>T (p.Lys939Ter)
 dbSNP
19g.10354117T>CCA403988140TYK2c.*1182A>G (n.*1182A>G)
c.2833A>G (p.Lys945Glu)
n.4209A>G
n.3247A>G
c.*2384A>G (n.*2384A>G)
c.*875A>G (n.*875A>G)
n.4292A>G
n.935A>G
c.*1938A>G (n.*1938A>G)
c.39A>G
c.37A>G (p.Lys13Glu)
c.2278A>G (p.Lys760Glu)
c.129A>G
n.505A>G
c.262A>G (p.Lys88Glu)
c.2536A>G (p.Lys846Glu)
c.1507A>G (p.Lys503Glu)
c.1090A>G (p.Lys364Glu)
n.2990A>G
n.3916A>G
c.2647A>G (p.Lys883Glu)
c.2830A>G (p.Lys944Glu)
c.2635A>G (p.Lys879Glu)
c.2749A>G (p.Lys917Glu)
c.2914A>G (p.Lys972Glu)
c.3043A>G (p.Lys1015Glu)
c.2743A>G (p.Lys915Glu)
c.2707A>G (p.Lys903Glu)
c.2815A>G (p.Lys939Glu)
19g.10354117T>GCA403988148TYK2c.*1182A>C (n.*1182A>C)
c.2833A>C (p.Lys945Gln)
n.4209A>C
n.3247A>C
c.*2384A>C (n.*2384A>C)
c.*875A>C (n.*875A>C)
n.4292A>C
n.935A>C
c.*1938A>C (n.*1938A>C)
c.39A>C
c.37A>C (p.Lys13Gln)
c.2278A>C (p.Lys760Gln)
c.129A>C
n.505A>C
c.262A>C (p.Lys88Gln)
c.2536A>C (p.Lys846Gln)
c.1507A>C (p.Lys503Gln)
c.1090A>C (p.Lys364Gln)
n.2990A>C
n.3916A>C
c.2647A>C (p.Lys883Gln)
c.2830A>C (p.Lys944Gln)
c.2635A>C (p.Lys879Gln)
c.2749A>C (p.Lys917Gln)
c.2914A>C (p.Lys972Gln)
c.3043A>C (p.Lys1015Gln)
c.2743A>C (p.Lys915Gln)
c.2707A>C (p.Lys903Gln)
c.2815A>C (p.Lys939Gln)
19g.10354117T=CA2322388011TYK2c.*1182A= (n.*1182A=)
c.2833A= (p.Lys945=)
n.4209A=
n.3247A=
c.*2384A= (n.*2384A=)
c.*875A= (n.*875A=)
n.4292A=
n.935A=
c.*1938A= (n.*1938A=)
c.39A=
c.37A= (p.Lys13=)
c.2278A= (p.Lys760=)
c.129A=
n.505A=
c.262A= (p.Lys88=)
c.2536A= (p.Lys846=)
c.1507A= (p.Lys503=)
c.1090A= (p.Lys364=)
n.2990A=
n.3916A=
c.2647A= (p.Lys883=)
c.2830A= (p.Lys944=)
c.2635A= (p.Lys879=)
c.2749A= (p.Lys917=)
c.2914A= (p.Lys972=)
c.3043A= (p.Lys1015=)
c.2743A= (p.Lys915=)
c.2707A= (p.Lys903=)
c.2815A= (p.Lys939=)
19g.10354118C>ACA403988157TYK2c.*1181G>T (n.*1181G>T)
c.2832G>T (p.Trp944Cys)
n.4208G>T
n.3246G>T
c.*2383G>T (n.*2383G>T)
c.*874G>T (n.*874G>T)
n.4291G>T
n.934G>T
c.*1937G>T (n.*1937G>T)
c.38G>T
c.36G>T (p.Trp12Cys)
c.2277G>T (p.Trp759Cys)
c.128G>T
n.504G>T
c.261G>T (p.Trp87Cys)
c.2535G>T (p.Trp845Cys)
c.1506G>T (p.Trp502Cys)
c.1089G>T (p.Trp363Cys)
n.2989G>T
n.3915G>T
c.2646G>T (p.Trp882Cys)
c.2829G>T (p.Trp943Cys)
c.2634G>T (p.Trp878Cys)
c.2748G>T (p.Trp916Cys)
c.2913G>T (p.Trp971Cys)
c.3042G>T (p.Trp1014Cys)
c.2742G>T (p.Trp914Cys)
c.2706G>T (p.Trp902Cys)
c.2814G>T (p.Trp938Cys)
19g.10354118C>GCA403988172TYK2c.*1181G>C (n.*1181G>C)
c.2832G>C (p.Trp944Cys)
n.4208G>C
n.3246G>C
c.*2383G>C (n.*2383G>C)
c.*874G>C (n.*874G>C)
n.4291G>C
n.934G>C
c.*1937G>C (n.*1937G>C)
c.38G>C
c.36G>C (p.Trp12Cys)
c.2277G>C (p.Trp759Cys)
c.128G>C
n.504G>C
c.261G>C (p.Trp87Cys)
c.2535G>C (p.Trp845Cys)
c.1506G>C (p.Trp502Cys)
c.1089G>C (p.Trp363Cys)
n.2989G>C
n.3915G>C
c.2646G>C (p.Trp882Cys)
c.2829G>C (p.Trp943Cys)
c.2634G>C (p.Trp878Cys)
c.2748G>C (p.Trp916Cys)
c.2913G>C (p.Trp971Cys)
c.3042G>C (p.Trp1014Cys)
c.2742G>C (p.Trp914Cys)
c.2706G>C (p.Trp902Cys)
c.2814G>C (p.Trp938Cys)
19g.10354118C>TCA403988176TYK2c.*1181G>A (n.*1181G>A)
c.2832G>A (p.Trp944Ter)
n.4208G>A
n.3246G>A
c.*2383G>A (n.*2383G>A)
c.*874G>A (n.*874G>A)
n.4291G>A
n.934G>A
c.*1937G>A (n.*1937G>A)
c.38G>A
c.36G>A (p.Trp12Ter)
c.2277G>A (p.Trp759Ter)
c.128G>A
n.504G>A
c.261G>A (p.Trp87Ter)
c.2535G>A (p.Trp845Ter)
c.1506G>A (p.Trp502Ter)
c.1089G>A (p.Trp363Ter)
n.2989G>A
n.3915G>A
c.2646G>A (p.Trp882Ter)
c.2829G>A (p.Trp943Ter)
c.2634G>A (p.Trp878Ter)
c.2748G>A (p.Trp916Ter)
c.2913G>A (p.Trp971Ter)
c.3042G>A (p.Trp1014Ter)
c.2742G>A (p.Trp914Ter)
c.2706G>A (p.Trp902Ter)
c.2814G>A (p.Trp938Ter)
 gnomAD v4
19g.10354119C>ACA9192915TYK2c.*1180G>T (n.*1180G>T)
c.2831G>T (p.Trp944Leu)
n.4207G>T
n.3245G>T
c.*2382G>T (n.*2382G>T)
c.*873G>T (n.*873G>T)
n.4290G>T
n.933G>T
c.*1936G>T (n.*1936G>T)
c.37G>T
c.35G>T (p.Trp12Leu)
c.2276G>T (p.Trp759Leu)
c.127G>T
n.503G>T
c.260G>T (p.Trp87Leu)
c.2534G>T (p.Trp845Leu)
c.1505G>T (p.Trp502Leu)
c.1088G>T (p.Trp363Leu)
n.2988G>T
n.3914G>T
c.2645G>T (p.Trp882Leu)
c.2828G>T (p.Trp943Leu)
c.2633G>T (p.Trp878Leu)
c.2747G>T (p.Trp916Leu)
c.2912G>T (p.Trp971Leu)
c.3041G>T (p.Trp1014Leu)
c.2741G>T (p.Trp914Leu)
c.2705G>T (p.Trp902Leu)
c.2813G>T (p.Trp938Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.10354119C=CA2322388012TYK2c.*1180G= (n.*1180G=)
c.2831G= (p.Trp944=)
n.4207G=
n.3245G=
c.*2382G= (n.*2382G=)
c.*873G= (n.*873G=)
n.4290G=
n.933G=
c.*1936G= (n.*1936G=)
c.37G=
c.35G= (p.Trp12=)
c.2276G= (p.Trp759=)
c.127G=
n.503G=
c.260G= (p.Trp87=)
c.2534G= (p.Trp845=)
c.1505G= (p.Trp502=)
c.1088G= (p.Trp363=)
n.2988G=
n.3914G=
c.2645G= (p.Trp882=)
c.2828G= (p.Trp943=)
c.2633G= (p.Trp878=)
c.2747G= (p.Trp916=)
c.2912G= (p.Trp971=)
c.3041G= (p.Trp1014=)
c.2741G= (p.Trp914=)
c.2705G= (p.Trp902=)
c.2813G= (p.Trp938=)
19g.10354119C>GCA403988205TYK2c.*1180G>C (n.*1180G>C)
c.2831G>C (p.Trp944Ser)
n.4207G>C
n.3245G>C
c.*2382G>C (n.*2382G>C)
c.*873G>C (n.*873G>C)
n.4290G>C
n.933G>C
c.*1936G>C (n.*1936G>C)
c.37G>C
c.35G>C (p.Trp12Ser)
c.2276G>C (p.Trp759Ser)
c.127G>C
n.503G>C
c.260G>C (p.Trp87Ser)
c.2534G>C (p.Trp845Ser)
c.1505G>C (p.Trp502Ser)
c.1088G>C (p.Trp363Ser)
n.2988G>C
n.3914G>C
c.2645G>C (p.Trp882Ser)
c.2828G>C (p.Trp943Ser)
c.2633G>C (p.Trp878Ser)
c.2747G>C (p.Trp916Ser)
c.2912G>C (p.Trp971Ser)
c.3041G>C (p.Trp1014Ser)
c.2741G>C (p.Trp914Ser)
c.2705G>C (p.Trp902Ser)
c.2813G>C (p.Trp938Ser)
19g.10354119C>TCA403988209TYK2c.*1180G>A (n.*1180G>A)
c.2831G>A (p.Trp944Ter)
n.4207G>A
n.3245G>A
c.*2382G>A (n.*2382G>A)
c.*873G>A (n.*873G>A)
n.4290G>A
n.933G>A
c.*1936G>A (n.*1936G>A)
c.37G>A
c.35G>A (p.Trp12Ter)
c.2276G>A (p.Trp759Ter)
c.127G>A
n.503G>A
c.260G>A (p.Trp87Ter)
c.2534G>A (p.Trp845Ter)
c.1505G>A (p.Trp502Ter)
c.1088G>A (p.Trp363Ter)
n.2988G>A
n.3914G>A
c.2645G>A (p.Trp882Ter)
c.2828G>A (p.Trp943Ter)
c.2633G>A (p.Trp878Ter)
c.2747G>A (p.Trp916Ter)
c.2912G>A (p.Trp971Ter)
c.3041G>A (p.Trp1014Ter)
c.2741G>A (p.Trp914Ter)
c.2705G>A (p.Trp902Ter)
c.2813G>A (p.Trp938Ter)
 COSMIC
19g.10354120A>CCA403988210TYK2c.*1179T>G (n.*1179T>G)
c.2830T>G (p.Trp944Gly)
n.4206T>G
n.3244T>G
c.*2381T>G (n.*2381T>G)
c.*872T>G (n.*872T>G)
n.4289T>G
n.932T>G
c.*1935T>G (n.*1935T>G)
c.36T>G
c.34T>G (p.Trp12Gly)
c.2275T>G (p.Trp759Gly)
c.126T>G
n.502T>G
c.259T>G (p.Trp87Gly)
c.2533T>G (p.Trp845Gly)
c.1504T>G (p.Trp502Gly)
c.1087T>G (p.Trp363Gly)
n.2987T>G
n.3913T>G
c.2644T>G (p.Trp882Gly)
c.2827T>G (p.Trp943Gly)
c.2632T>G (p.Trp878Gly)
c.2746T>G (p.Trp916Gly)
c.2911T>G (p.Trp971Gly)
c.3040T>G (p.Trp1014Gly)
c.2740T>G (p.Trp914Gly)
c.2704T>G (p.Trp902Gly)
c.2812T>G (p.Trp938Gly)
19g.10354120A>GCA403988213TYK2c.*1179T>C (n.*1179T>C)
c.2830T>C (p.Trp944Arg)
n.4206T>C
n.3244T>C
c.*2381T>C (n.*2381T>C)
c.*872T>C (n.*872T>C)
n.4289T>C
n.932T>C
c.*1935T>C (n.*1935T>C)
c.36T>C
c.34T>C (p.Trp12Arg)
c.2275T>C (p.Trp759Arg)
c.126T>C
n.502T>C
c.259T>C (p.Trp87Arg)
c.2533T>C (p.Trp845Arg)
c.1504T>C (p.Trp502Arg)
c.1087T>C (p.Trp363Arg)
n.2987T>C
n.3913T>C
c.2644T>C (p.Trp882Arg)
c.2827T>C (p.Trp943Arg)
c.2632T>C (p.Trp878Arg)
c.2746T>C (p.Trp916Arg)
c.2911T>C (p.Trp971Arg)
c.3040T>C (p.Trp1014Arg)
c.2740T>C (p.Trp914Arg)
c.2704T>C (p.Trp902Arg)
c.2812T>C (p.Trp938Arg)
19g.10354120A>TCA403988216TYK2c.*1179T>A (n.*1179T>A)
c.2830T>A (p.Trp944Arg)
n.4206T>A
n.3244T>A
c.*2381T>A (n.*2381T>A)
c.*872T>A (n.*872T>A)
n.4289T>A
n.932T>A
c.*1935T>A (n.*1935T>A)
c.36T>A
c.34T>A (p.Trp12Arg)
c.2275T>A (p.Trp759Arg)
c.126T>A
n.502T>A
c.259T>A (p.Trp87Arg)
c.2533T>A (p.Trp845Arg)
c.1504T>A (p.Trp502Arg)
c.1087T>A (p.Trp363Arg)
n.2987T>A
n.3913T>A
c.2644T>A (p.Trp882Arg)
c.2827T>A (p.Trp943Arg)
c.2632T>A (p.Trp878Arg)
c.2746T>A (p.Trp916Arg)
c.2911T>A (p.Trp971Arg)
c.3040T>A (p.Trp1014Arg)
c.2740T>A (p.Trp914Arg)
c.2704T>A (p.Trp902Arg)
c.2812T>A (p.Trp938Arg)
19g.10354121G>ACA305194623TYK2c.*1178C>T (n.*1178C>T)
c.2829C>T (p.Gly943=)
n.4205C>T
n.3243C>T
c.*2380C>T (n.*2380C>T)
c.*871C>T (n.*871C>T)
n.4288C>T
n.931C>T
c.*1934C>T (n.*1934C>T)
c.35C>T
c.33C>T (p.Gly11=)
c.2274C>T (p.Gly758=)
c.125C>T
n.501C>T
c.258C>T (p.Gly86=)
c.2532C>T (p.Gly844=)
c.1503C>T (p.Gly501=)
c.1086C>T (p.Gly362=)
n.2986C>T
n.3912C>T
c.2643C>T (p.Gly881=)
c.2826C>T (p.Gly942=)
c.2631C>T (p.Gly877=)
c.2745C>T (p.Gly915=)
c.2910C>T (p.Gly970=)
c.3039C>T (p.Gly1013=)
c.2739C>T (p.Gly913=)
c.2703C>T (p.Gly901=)
c.2811C>T (p.Gly937=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10354121G>CCA505373700TYK2c.*1178C>G (n.*1178C>G)
c.2829C>G (p.Gly943=)
n.4205C>G
n.3243C>G
c.*2380C>G (n.*2380C>G)
c.*871C>G (n.*871C>G)
n.4288C>G
n.931C>G
c.*1934C>G (n.*1934C>G)
c.35C>G
c.33C>G (p.Gly11=)
c.2274C>G (p.Gly758=)
c.125C>G
n.501C>G
c.258C>G (p.Gly86=)
c.2532C>G (p.Gly844=)
c.1503C>G (p.Gly501=)
c.1086C>G (p.Gly362=)
n.2986C>G
n.3912C>G
c.2643C>G (p.Gly881=)
c.2826C>G (p.Gly942=)
c.2631C>G (p.Gly877=)
c.2745C>G (p.Gly915=)
c.2910C>G (p.Gly970=)
c.3039C>G (p.Gly1013=)
c.2739C>G (p.Gly913=)
c.2703C>G (p.Gly901=)
c.2811C>G (p.Gly937=)
19g.10354121G=CA2322388013TYK2c.*1178C= (n.*1178C=)
c.2829C= (p.Gly943=)
n.4205C=
n.3243C=
c.*2380C= (n.*2380C=)
c.*871C= (n.*871C=)
n.4288C=
n.931C=
c.*1934C= (n.*1934C=)
c.35C=
c.33C= (p.Gly11=)
c.2274C= (p.Gly758=)
c.125C=
n.501C=
c.258C= (p.Gly86=)
c.2532C= (p.Gly844=)
c.1503C= (p.Gly501=)
c.1086C= (p.Gly362=)
n.2986C=
n.3912C=
c.2643C= (p.Gly881=)
c.2826C= (p.Gly942=)
c.2631C= (p.Gly877=)
c.2745C= (p.Gly915=)
c.2910C= (p.Gly970=)
c.3039C= (p.Gly1013=)
c.2739C= (p.Gly913=)
c.2703C= (p.Gly901=)
c.2811C= (p.Gly937=)
19g.10354121G>TCA505373691TYK2c.*1178C>A (n.*1178C>A)
c.2829C>A (p.Gly943=)
n.4205C>A
n.3243C>A
c.*2380C>A (n.*2380C>A)
c.*871C>A (n.*871C>A)
n.4288C>A
n.931C>A
c.*1934C>A (n.*1934C>A)
c.35C>A
c.33C>A (p.Gly11=)
c.2274C>A (p.Gly758=)
c.125C>A
n.501C>A
c.258C>A (p.Gly86=)
c.2532C>A (p.Gly844=)
c.1503C>A (p.Gly501=)
c.1086C>A (p.Gly362=)
n.2986C>A
n.3912C>A
c.2643C>A (p.Gly881=)
c.2826C>A (p.Gly942=)
c.2631C>A (p.Gly877=)
c.2745C>A (p.Gly915=)
c.2910C>A (p.Gly970=)
c.3039C>A (p.Gly1013=)
c.2739C>A (p.Gly913=)
c.2703C>A (p.Gly901=)
c.2811C>A (p.Gly937=)
19g.10354122C>ACA9192916TYK2c.*1177G>T (n.*1177G>T)
c.2828G>T (p.Gly943Val)
n.4204G>T
n.3242G>T
c.*2379G>T (n.*2379G>T)
c.*870G>T (n.*870G>T)
n.4287G>T
n.930G>T
c.*1933G>T (n.*1933G>T)
c.34G>T
c.32G>T (p.Gly11Val)
c.2273G>T (p.Gly758Val)
c.124G>T
n.500G>T
c.257G>T (p.Gly86Val)
c.2531G>T (p.Gly844Val)
c.1502G>T (p.Gly501Val)
c.1085G>T (p.Gly362Val)
n.2985G>T
n.3911G>T
c.2642G>T (p.Gly881Val)
c.2825G>T (p.Gly942Val)
c.2630G>T (p.Gly877Val)
c.2744G>T (p.Gly915Val)
c.2909G>T (p.Gly970Val)
c.3038G>T (p.Gly1013Val)
c.2738G>T (p.Gly913Val)
c.2702G>T (p.Gly901Val)
c.2810G>T (p.Gly937Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354122C=CA2322388014TYK2c.*1177G= (n.*1177G=)
c.2828G= (p.Gly943=)
n.4204G=
n.3242G=
c.*2379G= (n.*2379G=)
c.*870G= (n.*870G=)
n.4287G=
n.930G=
c.*1933G= (n.*1933G=)
c.34G=
c.32G= (p.Gly11=)
c.2273G= (p.Gly758=)
c.124G=
n.500G=
c.257G= (p.Gly86=)
c.2531G= (p.Gly844=)
c.1502G= (p.Gly501=)
c.1085G= (p.Gly362=)
n.2985G=
n.3911G=
c.2642G= (p.Gly881=)
c.2825G= (p.Gly942=)
c.2630G= (p.Gly877=)
c.2744G= (p.Gly915=)
c.2909G= (p.Gly970=)
c.3038G= (p.Gly1013=)
c.2738G= (p.Gly913=)
c.2702G= (p.Gly901=)
c.2810G= (p.Gly937=)
19g.10354122C>GCA403988232TYK2c.*1177G>C (n.*1177G>C)
c.2828G>C (p.Gly943Ala)
n.4204G>C
n.3242G>C
c.*2379G>C (n.*2379G>C)
c.*870G>C (n.*870G>C)
n.4287G>C
n.930G>C
c.*1933G>C (n.*1933G>C)
c.34G>C
c.32G>C (p.Gly11Ala)
c.2273G>C (p.Gly758Ala)
c.124G>C
n.500G>C
c.257G>C (p.Gly86Ala)
c.2531G>C (p.Gly844Ala)
c.1502G>C (p.Gly501Ala)
c.1085G>C (p.Gly362Ala)
n.2985G>C
n.3911G>C
c.2642G>C (p.Gly881Ala)
c.2825G>C (p.Gly942Ala)
c.2630G>C (p.Gly877Ala)
c.2744G>C (p.Gly915Ala)
c.2909G>C (p.Gly970Ala)
c.3038G>C (p.Gly1013Ala)
c.2738G>C (p.Gly913Ala)
c.2702G>C (p.Gly901Ala)
c.2810G>C (p.Gly937Ala)
19g.10354122C>TCA403988228TYK2c.*1177G>A (n.*1177G>A)
c.2828G>A (p.Gly943Asp)
n.4204G>A
n.3242G>A
c.*2379G>A (n.*2379G>A)
c.*870G>A (n.*870G>A)
n.4287G>A
n.930G>A
c.*1933G>A (n.*1933G>A)
c.34G>A
c.32G>A (p.Gly11Asp)
c.2273G>A (p.Gly758Asp)
c.124G>A
n.500G>A
c.257G>A (p.Gly86Asp)
c.2531G>A (p.Gly844Asp)
c.1502G>A (p.Gly501Asp)
c.1085G>A (p.Gly362Asp)
n.2985G>A
n.3911G>A
c.2642G>A (p.Gly881Asp)
c.2825G>A (p.Gly942Asp)
c.2630G>A (p.Gly877Asp)
c.2744G>A (p.Gly915Asp)
c.2909G>A (p.Gly970Asp)
c.3038G>A (p.Gly1013Asp)
c.2738G>A (p.Gly913Asp)
c.2702G>A (p.Gly901Asp)
c.2810G>A (p.Gly937Asp)
19g.10354123C>ACA403988238TYK2c.*1176G>T (n.*1176G>T)
c.2827G>T (p.Gly943Cys)
n.4203G>T
n.3241G>T
c.*2378G>T (n.*2378G>T)
c.*869G>T (n.*869G>T)
n.4286G>T
n.929G>T
c.*1932G>T (n.*1932G>T)
c.33G>T
c.31G>T (p.Gly11Cys)
c.2272G>T (p.Gly758Cys)
c.123G>T
n.499G>T
c.256G>T (p.Gly86Cys)
c.2530G>T (p.Gly844Cys)
c.1501G>T (p.Gly501Cys)
c.1084G>T (p.Gly362Cys)
n.2984G>T
n.3910G>T
c.2641G>T (p.Gly881Cys)
c.2824G>T (p.Gly942Cys)
c.2629G>T (p.Gly877Cys)
c.2743G>T (p.Gly915Cys)
c.2908G>T (p.Gly970Cys)
c.3037G>T (p.Gly1013Cys)
c.2737G>T (p.Gly913Cys)
c.2701G>T (p.Gly901Cys)
c.2809G>T (p.Gly937Cys)
19g.10354123C>GCA403988242TYK2c.*1176G>C (n.*1176G>C)
c.2827G>C (p.Gly943Arg)
n.4203G>C
n.3241G>C
c.*2378G>C (n.*2378G>C)
c.*869G>C (n.*869G>C)
n.4286G>C
n.929G>C
c.*1932G>C (n.*1932G>C)
c.33G>C
c.31G>C (p.Gly11Arg)
c.2272G>C (p.Gly758Arg)
c.123G>C
n.499G>C
c.256G>C (p.Gly86Arg)
c.2530G>C (p.Gly844Arg)
c.1501G>C (p.Gly501Arg)
c.1084G>C (p.Gly362Arg)
n.2984G>C
n.3910G>C
c.2641G>C (p.Gly881Arg)
c.2824G>C (p.Gly942Arg)
c.2629G>C (p.Gly877Arg)
c.2743G>C (p.Gly915Arg)
c.2908G>C (p.Gly970Arg)
c.3037G>C (p.Gly1013Arg)
c.2737G>C (p.Gly913Arg)
c.2701G>C (p.Gly901Arg)
c.2809G>C (p.Gly937Arg)
19g.10354123C>TCA403988249TYK2c.*1176G>A (n.*1176G>A)
c.2827G>A (p.Gly943Ser)
n.4203G>A
n.3241G>A
c.*2378G>A (n.*2378G>A)
c.*869G>A (n.*869G>A)
n.4286G>A
n.929G>A
c.*1932G>A (n.*1932G>A)
c.33G>A
c.31G>A (p.Gly11Ser)
c.2272G>A (p.Gly758Ser)
c.123G>A
n.499G>A
c.256G>A (p.Gly86Ser)
c.2530G>A (p.Gly844Ser)
c.1501G>A (p.Gly501Ser)
c.1084G>A (p.Gly362Ser)
n.2984G>A
n.3910G>A
c.2641G>A (p.Gly881Ser)
c.2824G>A (p.Gly942Ser)
c.2629G>A (p.Gly877Ser)
c.2743G>A (p.Gly915Ser)
c.2908G>A (p.Gly970Ser)
c.3037G>A (p.Gly1013Ser)
c.2737G>A (p.Gly913Ser)
c.2701G>A (p.Gly901Ser)
c.2809G>A (p.Gly937Ser)
 gnomAD v4
19g.10354124C>ACA505373707TYK2c.*1175G>T (n.*1175G>T)
c.2826G>T (p.Ser942=)
n.4202G>T
n.3240G>T
c.*2377G>T (n.*2377G>T)
c.*868G>T (n.*868G>T)
n.4285G>T
n.928G>T
c.*1931G>T (n.*1931G>T)
c.32G>T
c.30G>T (p.Ser10=)
c.2271G>T (p.Ser757=)
c.122G>T
n.498G>T
c.255G>T (p.Ser85=)
c.2529G>T (p.Ser843=)
c.1500G>T (p.Ser500=)
c.1083G>T (p.Ser361=)
n.2983G>T
n.3909G>T
c.2640G>T (p.Ser880=)
c.2823G>T (p.Ser941=)
c.2628G>T (p.Ser876=)
c.2742G>T (p.Ser914=)
c.2907G>T (p.Ser969=)
c.3036G>T (p.Ser1012=)
c.2736G>T (p.Ser912=)
c.2700G>T (p.Ser900=)
c.2808G>T (p.Ser936=)
19g.10354124C>GCA505373709TYK2c.*1175G>C (n.*1175G>C)
c.2826G>C (p.Ser942=)
n.4202G>C
n.3240G>C
c.*2377G>C (n.*2377G>C)
c.*868G>C (n.*868G>C)
n.4285G>C
n.928G>C
c.*1931G>C (n.*1931G>C)
c.32G>C
c.30G>C (p.Ser10=)
c.2271G>C (p.Ser757=)
c.122G>C
n.498G>C
c.255G>C (p.Ser85=)
c.2529G>C (p.Ser843=)
c.1500G>C (p.Ser500=)
c.1083G>C (p.Ser361=)
n.2983G>C
n.3909G>C
c.2640G>C (p.Ser880=)
c.2823G>C (p.Ser941=)
c.2628G>C (p.Ser876=)
c.2742G>C (p.Ser914=)
c.2907G>C (p.Ser969=)
c.3036G>C (p.Ser1012=)
c.2736G>C (p.Ser912=)
c.2700G>C (p.Ser900=)
c.2808G>C (p.Ser936=)
19g.10354124C>TCA505373716TYK2c.*1175G>A (n.*1175G>A)
c.2826G>A (p.Ser942=)
n.4202G>A
n.3240G>A
c.*2377G>A (n.*2377G>A)
c.*868G>A (n.*868G>A)
n.4285G>A
n.928G>A
c.*1931G>A (n.*1931G>A)
c.32G>A
c.30G>A (p.Ser10=)
c.2271G>A (p.Ser757=)
c.122G>A
n.498G>A
c.255G>A (p.Ser85=)
c.2529G>A (p.Ser843=)
c.1500G>A (p.Ser500=)
c.1083G>A (p.Ser361=)
n.2983G>A
n.3909G>A
c.2640G>A (p.Ser880=)
c.2823G>A (p.Ser941=)
c.2628G>A (p.Ser876=)
c.2742G>A (p.Ser914=)
c.2907G>A (p.Ser969=)
c.3036G>A (p.Ser1012=)
c.2736G>A (p.Ser912=)
c.2700G>A (p.Ser900=)
c.2808G>A (p.Ser936=)
19g.10354125G>ACA403988254TYK2c.*1174C>T (n.*1174C>T)
c.2825C>T (p.Ser942Leu)
n.4201C>T
n.3239C>T
c.*2376C>T (n.*2376C>T)
c.*867C>T (n.*867C>T)
n.4284C>T
n.927C>T
c.*1930C>T (n.*1930C>T)
c.31C>T
c.29C>T (p.Ser10Leu)
c.2270C>T (p.Ser757Leu)
c.121C>T
n.497C>T
c.254C>T (p.Ser85Leu)
c.2528C>T (p.Ser843Leu)
c.1499C>T (p.Ser500Leu)
c.1082C>T (p.Ser361Leu)
n.2982C>T
n.3908C>T
c.2639C>T (p.Ser880Leu)
c.2822C>T (p.Ser941Leu)
c.2627C>T (p.Ser876Leu)
c.2741C>T (p.Ser914Leu)
c.2906C>T (p.Ser969Leu)
c.3035C>T (p.Ser1012Leu)
c.2735C>T (p.Ser912Leu)
c.2699C>T (p.Ser900Leu)
c.2807C>T (p.Ser936Leu)
 dbSNP gnomAD v4
19g.10354125G>CCA403988257TYK2c.*1174C>G (n.*1174C>G)
c.2825C>G (p.Ser942Trp)
n.4201C>G
n.3239C>G
c.*2376C>G (n.*2376C>G)
c.*867C>G (n.*867C>G)
n.4284C>G
n.927C>G
c.*1930C>G (n.*1930C>G)
c.31C>G
c.29C>G (p.Ser10Trp)
c.2270C>G (p.Ser757Trp)
c.121C>G
n.497C>G
c.254C>G (p.Ser85Trp)
c.2528C>G (p.Ser843Trp)
c.1499C>G (p.Ser500Trp)
c.1082C>G (p.Ser361Trp)
n.2982C>G
n.3908C>G
c.2639C>G (p.Ser880Trp)
c.2822C>G (p.Ser941Trp)
c.2627C>G (p.Ser876Trp)
c.2741C>G (p.Ser914Trp)
c.2906C>G (p.Ser969Trp)
c.3035C>G (p.Ser1012Trp)
c.2735C>G (p.Ser912Trp)
c.2699C>G (p.Ser900Trp)
c.2807C>G (p.Ser936Trp)
 dbSNP
19g.10354125G=CA2322388015TYK2c.*1174C= (n.*1174C=)
c.2825C= (p.Ser942=)
n.4201C=
n.3239C=
c.*2376C= (n.*2376C=)
c.*867C= (n.*867C=)
n.4284C=
n.927C=
c.*1930C= (n.*1930C=)
c.31C=
c.29C= (p.Ser10=)
c.2270C= (p.Ser757=)
c.121C=
n.497C=
c.254C= (p.Ser85=)
c.2528C= (p.Ser843=)
c.1499C= (p.Ser500=)
c.1082C= (p.Ser361=)
n.2982C=
n.3908C=
c.2639C= (p.Ser880=)
c.2822C= (p.Ser941=)
c.2627C= (p.Ser876=)
c.2741C= (p.Ser914=)
c.2906C= (p.Ser969=)
c.3035C= (p.Ser1012=)
c.2735C= (p.Ser912=)
c.2699C= (p.Ser900=)
c.2807C= (p.Ser936=)
19g.10354125G>TCA403988260TYK2c.*1174C>A (n.*1174C>A)
c.2825C>A (p.Ser942Ter)
n.4201C>A
n.3239C>A
c.*2376C>A (n.*2376C>A)
c.*867C>A (n.*867C>A)
n.4284C>A
n.927C>A
c.*1930C>A (n.*1930C>A)
c.31C>A
c.29C>A (p.Ser10Ter)
c.2270C>A (p.Ser757Ter)
c.121C>A
n.497C>A
c.254C>A (p.Ser85Ter)
c.2528C>A (p.Ser843Ter)
c.1499C>A (p.Ser500Ter)
c.1082C>A (p.Ser361Ter)
n.2982C>A
n.3908C>A
c.2639C>A (p.Ser880Ter)
c.2822C>A (p.Ser941Ter)
c.2627C>A (p.Ser876Ter)
c.2741C>A (p.Ser914Ter)
c.2906C>A (p.Ser969Ter)
c.3035C>A (p.Ser1012Ter)
c.2735C>A (p.Ser912Ter)
c.2699C>A (p.Ser900Ter)
c.2807C>A (p.Ser936Ter)
 gnomAD v4
19g.10354126A>CCA403988265TYK2c.*1173T>G (n.*1173T>G)
c.2824T>G (p.Ser942Ala)
n.4200T>G
n.3238T>G
c.*2375T>G (n.*2375T>G)
c.*866T>G (n.*866T>G)
n.4283T>G
n.926T>G
c.*1929T>G (n.*1929T>G)
c.30T>G
c.28T>G (p.Ser10Ala)
c.2269T>G (p.Ser757Ala)
c.120T>G
n.496T>G
c.253T>G (p.Ser85Ala)
c.2527T>G (p.Ser843Ala)
c.1498T>G (p.Ser500Ala)
c.1081T>G (p.Ser361Ala)
n.2981T>G
n.3907T>G
c.2638T>G (p.Ser880Ala)
c.2821T>G (p.Ser941Ala)
c.2626T>G (p.Ser876Ala)
c.2740T>G (p.Ser914Ala)
c.2905T>G (p.Ser969Ala)
c.3034T>G (p.Ser1012Ala)
c.2734T>G (p.Ser912Ala)
c.2698T>G (p.Ser900Ala)
c.2806T>G (p.Ser936Ala)
19g.10354126A>GCA403988268TYK2c.*1173T>C (n.*1173T>C)
c.2824T>C (p.Ser942Pro)
n.4200T>C
n.3238T>C
c.*2375T>C (n.*2375T>C)
c.*866T>C (n.*866T>C)
n.4283T>C
n.926T>C
c.*1929T>C (n.*1929T>C)
c.30T>C
c.28T>C (p.Ser10Pro)
c.2269T>C (p.Ser757Pro)
c.120T>C
n.496T>C
c.253T>C (p.Ser85Pro)
c.2527T>C (p.Ser843Pro)
c.1498T>C (p.Ser500Pro)
c.1081T>C (p.Ser361Pro)
n.2981T>C
n.3907T>C
c.2638T>C (p.Ser880Pro)
c.2821T>C (p.Ser941Pro)
c.2626T>C (p.Ser876Pro)
c.2740T>C (p.Ser914Pro)
c.2905T>C (p.Ser969Pro)
c.3034T>C (p.Ser1012Pro)
c.2734T>C (p.Ser912Pro)
c.2698T>C (p.Ser900Pro)
c.2806T>C (p.Ser936Pro)
19g.10354126A>TCA403988272TYK2c.*1173T>A (n.*1173T>A)
c.2824T>A (p.Ser942Thr)
n.4200T>A
n.3238T>A
c.*2375T>A (n.*2375T>A)
c.*866T>A (n.*866T>A)
n.4283T>A
n.926T>A
c.*1929T>A (n.*1929T>A)
c.30T>A
c.28T>A (p.Ser10Thr)
c.2269T>A (p.Ser757Thr)
c.120T>A
n.496T>A
c.253T>A (p.Ser85Thr)
c.2527T>A (p.Ser843Thr)
c.1498T>A (p.Ser500Thr)
c.1081T>A (p.Ser361Thr)
n.2981T>A
n.3907T>A
c.2638T>A (p.Ser880Thr)
c.2821T>A (p.Ser941Thr)
c.2626T>A (p.Ser876Thr)
c.2740T>A (p.Ser914Thr)
c.2905T>A (p.Ser969Thr)
c.3034T>A (p.Ser1012Thr)
c.2734T>A (p.Ser912Thr)
c.2698T>A (p.Ser900Thr)
c.2806T>A (p.Ser936Thr)
19g.10354127G>ACA505373739TYK2c.*1172C>T (n.*1172C>T)
c.2823C>T (p.Arg941=)
n.4199C>T
n.3237C>T
c.*2374C>T (n.*2374C>T)
c.*865C>T (n.*865C>T)
n.4282C>T
n.925C>T
c.*1928C>T (n.*1928C>T)
c.29C>T
c.27C>T (p.Arg9=)
c.2268C>T (p.Arg756=)
c.119C>T
n.495C>T
c.252C>T (p.Arg84=)
c.2526C>T (p.Arg842=)
c.1497C>T (p.Arg499=)
c.1080C>T (p.Arg360=)
n.2980C>T
n.3906C>T
c.2637C>T (p.Arg879=)
c.2820C>T (p.Arg940=)
c.2625C>T (p.Arg875=)
c.2739C>T (p.Arg913=)
c.2904C>T (p.Arg968=)
c.3033C>T (p.Arg1011=)
c.2733C>T (p.Arg911=)
c.2697C>T (p.Arg899=)
c.2805C>T (p.Arg935=)
19g.10354127G>CCA505373745TYK2c.*1172C>G (n.*1172C>G)
c.2823C>G (p.Arg941=)
n.4199C>G
n.3237C>G
c.*2374C>G (n.*2374C>G)
c.*865C>G (n.*865C>G)
n.4282C>G
n.925C>G
c.*1928C>G (n.*1928C>G)
c.29C>G
c.27C>G (p.Arg9=)
c.2268C>G (p.Arg756=)
c.119C>G
n.495C>G
c.252C>G (p.Arg84=)
c.2526C>G (p.Arg842=)
c.1497C>G (p.Arg499=)
c.1080C>G (p.Arg360=)
n.2980C>G
n.3906C>G
c.2637C>G (p.Arg879=)
c.2820C>G (p.Arg940=)
c.2625C>G (p.Arg875=)
c.2739C>G (p.Arg913=)
c.2904C>G (p.Arg968=)
c.3033C>G (p.Arg1011=)
c.2733C>G (p.Arg911=)
c.2697C>G (p.Arg899=)
c.2805C>G (p.Arg935=)
 COSMIC
19g.10354127G>TCA505373741TYK2c.*1172C>A (n.*1172C>A)
c.2823C>A (p.Arg941=)
n.4199C>A
n.3237C>A
c.*2374C>A (n.*2374C>A)
c.*865C>A (n.*865C>A)
n.4282C>A
n.925C>A
c.*1928C>A (n.*1928C>A)
c.29C>A
c.27C>A (p.Arg9=)
c.2268C>A (p.Arg756=)
c.119C>A
n.495C>A
c.252C>A (p.Arg84=)
c.2526C>A (p.Arg842=)
c.1497C>A (p.Arg499=)
c.1080C>A (p.Arg360=)
n.2980C>A
n.3906C>A
c.2637C>A (p.Arg879=)
c.2820C>A (p.Arg940=)
c.2625C>A (p.Arg875=)
c.2739C>A (p.Arg913=)
c.2904C>A (p.Arg968=)
c.3033C>A (p.Arg1011=)
c.2733C>A (p.Arg911=)
c.2697C>A (p.Arg899=)
c.2805C>A (p.Arg935=)
 gnomAD v4
19g.10354128C>ACA9192917TYK2c.*1171G>T (n.*1171G>T)
c.2822G>T (p.Arg941Leu)
n.4198G>T
n.3236G>T
c.*2373G>T (n.*2373G>T)
c.*864G>T (n.*864G>T)
n.4281G>T
n.924G>T
c.*1927G>T (n.*1927G>T)
c.28G>T
c.26G>T (p.Arg9Leu)
c.2267G>T (p.Arg756Leu)
c.118G>T
n.494G>T
c.251G>T (p.Arg84Leu)
c.2525G>T (p.Arg842Leu)
c.1496G>T (p.Arg499Leu)
c.1079G>T (p.Arg360Leu)
n.2979G>T
n.3905G>T
c.2636G>T (p.Arg879Leu)
c.2819G>T (p.Arg940Leu)
c.2624G>T (p.Arg875Leu)
c.2738G>T (p.Arg913Leu)
c.2903G>T (p.Arg968Leu)
c.3032G>T (p.Arg1011Leu)
c.2732G>T (p.Arg911Leu)
c.2696G>T (p.Arg899Leu)
c.2804G>T (p.Arg935Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10354128C=CA2322388016TYK2c.*1171G= (n.*1171G=)
c.2822G= (p.Arg941=)
n.4198G=
n.3236G=
c.*2373G= (n.*2373G=)
c.*864G= (n.*864G=)
n.4281G=
n.924G=
c.*1927G= (n.*1927G=)
c.28G=
c.26G= (p.Arg9=)
c.2267G= (p.Arg756=)
c.118G=
n.494G=
c.251G= (p.Arg84=)
c.2525G= (p.Arg842=)
c.1496G= (p.Arg499=)
c.1079G= (p.Arg360=)
n.2979G=
n.3905G=
c.2636G= (p.Arg879=)
c.2819G= (p.Arg940=)
c.2624G= (p.Arg875=)
c.2738G= (p.Arg913=)
c.2903G= (p.Arg968=)
c.3032G= (p.Arg1011=)
c.2732G= (p.Arg911=)
c.2696G= (p.Arg899=)
c.2804G= (p.Arg935=)
19g.10354128C>GCA403988283TYK2c.*1171G>C (n.*1171G>C)
c.2822G>C (p.Arg941Pro)
n.4198G>C
n.3236G>C
c.*2373G>C (n.*2373G>C)
c.*864G>C (n.*864G>C)
n.4281G>C
n.924G>C
c.*1927G>C (n.*1927G>C)
c.28G>C
c.26G>C (p.Arg9Pro)
c.2267G>C (p.Arg756Pro)
c.118G>C
n.494G>C
c.251G>C (p.Arg84Pro)
c.2525G>C (p.Arg842Pro)
c.1496G>C (p.Arg499Pro)
c.1079G>C (p.Arg360Pro)
n.2979G>C
n.3905G>C
c.2636G>C (p.Arg879Pro)
c.2819G>C (p.Arg940Pro)
c.2624G>C (p.Arg875Pro)
c.2738G>C (p.Arg913Pro)
c.2903G>C (p.Arg968Pro)
c.3032G>C (p.Arg1011Pro)
c.2732G>C (p.Arg911Pro)
c.2696G>C (p.Arg899Pro)
c.2804G>C (p.Arg935Pro)
19g.10354128C>TCA403988286TYK2c.*1171G>A (n.*1171G>A)
c.2822G>A (p.Arg941His)
n.4198G>A
n.3236G>A
c.*2373G>A (n.*2373G>A)
c.*864G>A (n.*864G>A)
n.4281G>A
n.924G>A
c.*1927G>A (n.*1927G>A)
c.28G>A
c.26G>A (p.Arg9His)
c.2267G>A (p.Arg756His)
c.118G>A
n.494G>A
c.251G>A (p.Arg84His)
c.2525G>A (p.Arg842His)
c.1496G>A (p.Arg499His)
c.1079G>A (p.Arg360His)
n.2979G>A
n.3905G>A
c.2636G>A (p.Arg879His)
c.2819G>A (p.Arg940His)
c.2624G>A (p.Arg875His)
c.2738G>A (p.Arg913His)
c.2903G>A (p.Arg968His)
c.3032G>A (p.Arg1011His)
c.2732G>A (p.Arg911His)
c.2696G>A (p.Arg899His)
c.2804G>A (p.Arg935His)
 gnomAD v4
19g.10354129G>ACA403988311TYK2c.*1170C>T (n.*1170C>T)
c.2821C>T (p.Arg941Cys)
n.4197C>T
n.3235C>T
c.*2372C>T (n.*2372C>T)
c.*863C>T (n.*863C>T)
n.4280C>T
n.923C>T
c.*1926C>T (n.*1926C>T)
c.27C>T
c.25C>T (p.Arg9Cys)
c.2266C>T (p.Arg756Cys)
c.117C>T
n.493C>T
c.250C>T (p.Arg84Cys)
c.2524C>T (p.Arg842Cys)
c.1495C>T (p.Arg499Cys)
c.1078C>T (p.Arg360Cys)
n.2978C>T
n.3904C>T
c.2635C>T (p.Arg879Cys)
c.2818C>T (p.Arg940Cys)
c.2623C>T (p.Arg875Cys)
c.2737C>T (p.Arg913Cys)
c.2902C>T (p.Arg968Cys)
c.3031C>T (p.Arg1011Cys)
c.2731C>T (p.Arg911Cys)
c.2695C>T (p.Arg899Cys)
c.2803C>T (p.Arg935Cys)
 ClinVar dbSNP gnomAD v4
19g.10354129G>CCA403988289TYK2c.*1170C>G (n.*1170C>G)
c.2821C>G (p.Arg941Gly)
n.4197C>G
n.3235C>G
c.*2372C>G (n.*2372C>G)
c.*863C>G (n.*863C>G)
n.4280C>G
n.923C>G
c.*1926C>G (n.*1926C>G)
c.27C>G
c.25C>G (p.Arg9Gly)
c.2266C>G (p.Arg756Gly)
c.117C>G
n.493C>G
c.250C>G (p.Arg84Gly)
c.2524C>G (p.Arg842Gly)
c.1495C>G (p.Arg499Gly)
c.1078C>G (p.Arg360Gly)
n.2978C>G
n.3904C>G
c.2635C>G (p.Arg879Gly)
c.2818C>G (p.Arg940Gly)
c.2623C>G (p.Arg875Gly)
c.2737C>G (p.Arg913Gly)
c.2902C>G (p.Arg968Gly)
c.3031C>G (p.Arg1011Gly)
c.2731C>G (p.Arg911Gly)
c.2695C>G (p.Arg899Gly)
c.2803C>G (p.Arg935Gly)
 ClinVar dbSNP
19g.10354129G=CA2322388017TYK2c.*1170C= (n.*1170C=)
c.2821C= (p.Arg941=)
n.4197C=
n.3235C=
c.*2372C= (n.*2372C=)
c.*863C= (n.*863C=)
n.4280C=
n.923C=
c.*1926C= (n.*1926C=)
c.27C=
c.25C= (p.Arg9=)
c.2266C= (p.Arg756=)
c.117C=
n.493C=
c.250C= (p.Arg84=)
c.2524C= (p.Arg842=)
c.1495C= (p.Arg499=)
c.1078C= (p.Arg360=)
n.2978C=
n.3904C=
c.2635C= (p.Arg879=)
c.2818C= (p.Arg940=)
c.2623C= (p.Arg875=)
c.2737C= (p.Arg913=)
c.2902C= (p.Arg968=)
c.3031C= (p.Arg1011=)
c.2731C= (p.Arg911=)
c.2695C= (p.Arg899=)
c.2803C= (p.Arg935=)
19g.10354129G>TCA403988295TYK2c.*1170C>A (n.*1170C>A)
c.2821C>A (p.Arg941Ser)
n.4197C>A
n.3235C>A
c.*2372C>A (n.*2372C>A)
c.*863C>A (n.*863C>A)
n.4280C>A
n.923C>A
c.*1926C>A (n.*1926C>A)
c.27C>A
c.25C>A (p.Arg9Ser)
c.2266C>A (p.Arg756Ser)
c.117C>A
n.493C>A
c.250C>A (p.Arg84Ser)
c.2524C>A (p.Arg842Ser)
c.1495C>A (p.Arg499Ser)
c.1078C>A (p.Arg360Ser)
n.2978C>A
n.3904C>A
c.2635C>A (p.Arg879Ser)
c.2818C>A (p.Arg940Ser)
c.2623C>A (p.Arg875Ser)
c.2737C>A (p.Arg913Ser)
c.2902C>A (p.Arg968Ser)
c.3031C>A (p.Arg1011Ser)
c.2731C>A (p.Arg911Ser)
c.2695C>A (p.Arg899Ser)
c.2803C>A (p.Arg935Ser)
19g.10354130G>ACA505373758TYK2c.*1169C>T (n.*1169C>T)
c.2820C>T (p.His940=)
n.4196C>T
n.3234C>T
c.*2371C>T (n.*2371C>T)
c.*862C>T (n.*862C>T)
n.4279C>T
n.922C>T
c.*1925C>T (n.*1925C>T)
c.26C>T
c.24C>T (p.His8=)
c.2265C>T (p.His755=)
c.116C>T
n.492C>T
c.249C>T (p.His83=)
c.2523C>T (p.His841=)
c.1494C>T (p.His498=)
c.1077C>T (p.His359=)
n.2977C>T
n.3903C>T
c.2634C>T (p.His878=)
c.2817C>T (p.His939=)
c.2622C>T (p.His874=)
c.2736C>T (p.His912=)
c.2901C>T (p.His967=)
c.3030C>T (p.His1010=)
c.2730C>T (p.His910=)
c.2694C>T (p.His898=)
c.2802C>T (p.His934=)
 dbSNP gnomAD v3 gnomAD v4
19g.10354130G>CCA9192918TYK2c.*1169C>G (n.*1169C>G)
c.2820C>G (p.His940Gln)
n.4196C>G
n.3234C>G
c.*2371C>G (n.*2371C>G)
c.*862C>G (n.*862C>G)
n.4279C>G
n.922C>G
c.*1925C>G (n.*1925C>G)
c.26C>G
c.24C>G (p.His8Gln)
c.2265C>G (p.His755Gln)
c.116C>G
n.492C>G
c.249C>G (p.His83Gln)
c.2523C>G (p.His841Gln)
c.1494C>G (p.His498Gln)
c.1077C>G (p.His359Gln)
n.2977C>G
n.3903C>G
c.2634C>G (p.His878Gln)
c.2817C>G (p.His939Gln)
c.2622C>G (p.His874Gln)
c.2736C>G (p.His912Gln)
c.2901C>G (p.His967Gln)
c.3030C>G (p.His1010Gln)
c.2730C>G (p.His910Gln)
c.2694C>G (p.His898Gln)
c.2802C>G (p.His934Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354130G=CA2322388018TYK2c.*1169C= (n.*1169C=)
c.2820C= (p.His940=)
n.4196C=
n.3234C=
c.*2371C= (n.*2371C=)
c.*862C= (n.*862C=)
n.4279C=
n.922C=
c.*1925C= (n.*1925C=)
c.26C=
c.24C= (p.His8=)
c.2265C= (p.His755=)
c.116C=
n.492C=
c.249C= (p.His83=)
c.2523C= (p.His841=)
c.1494C= (p.His498=)
c.1077C= (p.His359=)
n.2977C=
n.3903C=
c.2634C= (p.His878=)
c.2817C= (p.His939=)
c.2622C= (p.His874=)
c.2736C= (p.His912=)
c.2901C= (p.His967=)
c.3030C= (p.His1010=)
c.2730C= (p.His910=)
c.2694C= (p.His898=)
c.2802C= (p.His934=)
19g.10354130G>TCA403988319TYK2c.*1169C>A (n.*1169C>A)
c.2820C>A (p.His940Gln)
n.4196C>A
n.3234C>A
c.*2371C>A (n.*2371C>A)
c.*862C>A (n.*862C>A)
n.4279C>A
n.922C>A
c.*1925C>A (n.*1925C>A)
c.26C>A
c.24C>A (p.His8Gln)
c.2265C>A (p.His755Gln)
c.116C>A
n.492C>A
c.249C>A (p.His83Gln)
c.2523C>A (p.His841Gln)
c.1494C>A (p.His498Gln)
c.1077C>A (p.His359Gln)
n.2977C>A
n.3903C>A
c.2634C>A (p.His878Gln)
c.2817C>A (p.His939Gln)
c.2622C>A (p.His874Gln)
c.2736C>A (p.His912Gln)
c.2901C>A (p.His967Gln)
c.3030C>A (p.His1010Gln)
c.2730C>A (p.His910Gln)
c.2694C>A (p.His898Gln)
c.2802C>A (p.His934Gln)
19g.10354131T>ACA403988323TYK2c.*1168A>T (n.*1168A>T)
c.2819A>T (p.His940Leu)
n.4195A>T
n.3233A>T
c.*2370A>T (n.*2370A>T)
c.*861A>T (n.*861A>T)
n.4278A>T
n.921A>T
c.*1924A>T (n.*1924A>T)
c.25A>T
c.23A>T (p.His8Leu)
c.2264A>T (p.His755Leu)
c.115A>T
n.491A>T
c.248A>T (p.His83Leu)
c.2522A>T (p.His841Leu)
c.1493A>T (p.His498Leu)
c.1076A>T (p.His359Leu)
n.2976A>T
n.3902A>T
c.2633A>T (p.His878Leu)
c.2816A>T (p.His939Leu)
c.2621A>T (p.His874Leu)
c.2735A>T (p.His912Leu)
c.2900A>T (p.His967Leu)
c.3029A>T (p.His1010Leu)
c.2729A>T (p.His910Leu)
c.2693A>T (p.His898Leu)
c.2801A>T (p.His934Leu)
19g.10354131T>CCA403988324TYK2c.*1168A>G (n.*1168A>G)
c.2819A>G (p.His940Arg)
n.4195A>G
n.3233A>G
c.*2370A>G (n.*2370A>G)
c.*861A>G (n.*861A>G)
n.4278A>G
n.921A>G
c.*1924A>G (n.*1924A>G)
c.25A>G
c.23A>G (p.His8Arg)
c.2264A>G (p.His755Arg)
c.115A>G
n.491A>G
c.248A>G (p.His83Arg)
c.2522A>G (p.His841Arg)
c.1493A>G (p.His498Arg)
c.1076A>G (p.His359Arg)
n.2976A>G
n.3902A>G
c.2633A>G (p.His878Arg)
c.2816A>G (p.His939Arg)
c.2621A>G (p.His874Arg)
c.2735A>G (p.His912Arg)
c.2900A>G (p.His967Arg)
c.3029A>G (p.His1010Arg)
c.2729A>G (p.His910Arg)
c.2693A>G (p.His898Arg)
c.2801A>G (p.His934Arg)
 dbSNP
19g.10354131T>GCA403988325TYK2c.*1168A>C (n.*1168A>C)
c.2819A>C (p.His940Pro)
n.4195A>C
n.3233A>C
c.*2370A>C (n.*2370A>C)
c.*861A>C (n.*861A>C)
n.4278A>C
n.921A>C
c.*1924A>C (n.*1924A>C)
c.25A>C
c.23A>C (p.His8Pro)
c.2264A>C (p.His755Pro)
c.115A>C
n.491A>C
c.248A>C (p.His83Pro)
c.2522A>C (p.His841Pro)
c.1493A>C (p.His498Pro)
c.1076A>C (p.His359Pro)
n.2976A>C
n.3902A>C
c.2633A>C (p.His878Pro)
c.2816A>C (p.His939Pro)
c.2621A>C (p.His874Pro)
c.2735A>C (p.His912Pro)
c.2900A>C (p.His967Pro)
c.3029A>C (p.His1010Pro)
c.2729A>C (p.His910Pro)
c.2693A>C (p.His898Pro)
c.2801A>C (p.His934Pro)
19g.10354131T=CA2322388019TYK2c.*1168A= (n.*1168A=)
c.2819A= (p.His940=)
n.4195A=
n.3233A=
c.*2370A= (n.*2370A=)
c.*861A= (n.*861A=)
n.4278A=
n.921A=
c.*1924A= (n.*1924A=)
c.25A=
c.23A= (p.His8=)
c.2264A= (p.His755=)
c.115A=
n.491A=
c.248A= (p.His83=)
c.2522A= (p.His841=)
c.1493A= (p.His498=)
c.1076A= (p.His359=)
n.2976A=
n.3902A=
c.2633A= (p.His878=)
c.2816A= (p.His939=)
c.2621A= (p.His874=)
c.2735A= (p.His912=)
c.2900A= (p.His967=)
c.3029A= (p.His1010=)
c.2729A= (p.His910=)
c.2693A= (p.His898=)
c.2801A= (p.His934=)
19g.10354132G>ACA403988328TYK2c.*1167C>T (n.*1167C>T)
c.2818C>T (p.His940Tyr)
n.4194C>T
n.3232C>T
c.*2369C>T (n.*2369C>T)
c.*860C>T (n.*860C>T)
n.4277C>T
n.920C>T
c.*1923C>T (n.*1923C>T)
c.24C>T
c.22C>T (p.His8Tyr)
c.2263C>T (p.His755Tyr)
c.114C>T
n.490C>T
c.247C>T (p.His83Tyr)
c.2521C>T (p.His841Tyr)
c.1492C>T (p.His498Tyr)
c.1075C>T (p.His359Tyr)
n.2975C>T
n.3901C>T
c.2632C>T (p.His878Tyr)
c.2815C>T (p.His939Tyr)
c.2620C>T (p.His874Tyr)
c.2734C>T (p.His912Tyr)
c.2899C>T (p.His967Tyr)
c.3028C>T (p.His1010Tyr)
c.2728C>T (p.His910Tyr)
c.2692C>T (p.His898Tyr)
c.2800C>T (p.His934Tyr)
19g.10354132G>CCA403988336TYK2c.*1167C>G (n.*1167C>G)
c.2818C>G (p.His940Asp)
n.4194C>G
n.3232C>G
c.*2369C>G (n.*2369C>G)
c.*860C>G (n.*860C>G)
n.4277C>G
n.920C>G
c.*1923C>G (n.*1923C>G)
c.24C>G
c.22C>G (p.His8Asp)
c.2263C>G (p.His755Asp)
c.114C>G
n.490C>G
c.247C>G (p.His83Asp)
c.2521C>G (p.His841Asp)
c.1492C>G (p.His498Asp)
c.1075C>G (p.His359Asp)
n.2975C>G
n.3901C>G
c.2632C>G (p.His878Asp)
c.2815C>G (p.His939Asp)
c.2620C>G (p.His874Asp)
c.2734C>G (p.His912Asp)
c.2899C>G (p.His967Asp)
c.3028C>G (p.His1010Asp)
c.2728C>G (p.His910Asp)
c.2692C>G (p.His898Asp)
c.2800C>G (p.His934Asp)
19g.10354132G>TCA403988339TYK2c.*1167C>A (n.*1167C>A)
c.2818C>A (p.His940Asn)
n.4194C>A
n.3232C>A
c.*2369C>A (n.*2369C>A)
c.*860C>A (n.*860C>A)
n.4277C>A
n.920C>A
c.*1923C>A (n.*1923C>A)
c.24C>A
c.22C>A (p.His8Asn)
c.2263C>A (p.His755Asn)
c.114C>A
n.490C>A
c.247C>A (p.His83Asn)
c.2521C>A (p.His841Asn)
c.1492C>A (p.His498Asn)
c.1075C>A (p.His359Asn)
n.2975C>A
n.3901C>A
c.2632C>A (p.His878Asn)
c.2815C>A (p.His939Asn)
c.2620C>A (p.His874Asn)
c.2734C>A (p.His912Asn)
c.2899C>A (p.His967Asn)
c.3028C>A (p.His1010Asn)
c.2728C>A (p.His910Asn)
c.2692C>A (p.His898Asn)
c.2800C>A (p.His934Asn)
19g.10354133C>ACA403988349TYK2c.*1166G>T (n.*1166G>T)
c.2817G>T (p.Gln939His)
n.4193G>T
n.3231G>T
c.*2368G>T (n.*2368G>T)
c.*859G>T (n.*859G>T)
n.4276G>T
n.919G>T
c.*1922G>T (n.*1922G>T)
c.23G>T
c.21G>T (p.Gln7His)
c.2262G>T (p.Gln754His)
c.113G>T
n.489G>T
c.246G>T (p.Gln82His)
c.2520G>T (p.Gln840His)
c.1491G>T (p.Gln497His)
c.1074G>T (p.Gln358His)
n.2974G>T
n.3900G>T
c.2631G>T (p.Gln877His)
c.2814G>T (p.Gln938His)
c.2619G>T (p.Gln873His)
c.2733G>T (p.Gln911His)
c.2898G>T (p.Gln966His)
c.3027G>T (p.Gln1009His)
c.2727G>T (p.Gln909His)
c.2691G>T (p.Gln897His)
c.2799G>T (p.Gln933His)
19g.10354133C=CA2322388020TYK2c.*1166G= (n.*1166G=)
c.2817G= (p.Gln939=)
n.4193G=
n.3231G=
c.*2368G= (n.*2368G=)
c.*859G= (n.*859G=)
n.4276G=
n.919G=
c.*1922G= (n.*1922G=)
c.23G=
c.21G= (p.Gln7=)
c.2262G= (p.Gln754=)
c.113G=
n.489G=
c.246G= (p.Gln82=)
c.2520G= (p.Gln840=)
c.1491G= (p.Gln497=)
c.1074G= (p.Gln358=)
n.2974G=
n.3900G=
c.2631G= (p.Gln877=)
c.2814G= (p.Gln938=)
c.2619G= (p.Gln873=)
c.2733G= (p.Gln911=)
c.2898G= (p.Gln966=)
c.3027G= (p.Gln1009=)
c.2727G= (p.Gln909=)
c.2691G= (p.Gln897=)
c.2799G= (p.Gln933=)
19g.10354133C>GCA403988353TYK2c.*1166G>C (n.*1166G>C)
c.2817G>C (p.Gln939His)
n.4193G>C
n.3231G>C
c.*2368G>C (n.*2368G>C)
c.*859G>C (n.*859G>C)
n.4276G>C
n.919G>C
c.*1922G>C (n.*1922G>C)
c.23G>C
c.21G>C (p.Gln7His)
c.2262G>C (p.Gln754His)
c.113G>C
n.489G>C
c.246G>C (p.Gln82His)
c.2520G>C (p.Gln840His)
c.1491G>C (p.Gln497His)
c.1074G>C (p.Gln358His)
n.2974G>C
n.3900G>C
c.2631G>C (p.Gln877His)
c.2814G>C (p.Gln938His)
c.2619G>C (p.Gln873His)
c.2733G>C (p.Gln911His)
c.2898G>C (p.Gln966His)
c.3027G>C (p.Gln1009His)
c.2727G>C (p.Gln909His)
c.2691G>C (p.Gln897His)
c.2799G>C (p.Gln933His)
19g.10354133C>TCA305194653TYK2c.*1166G>A (n.*1166G>A)
c.2817G>A (p.Gln939=)
n.4193G>A
n.3231G>A
c.*2368G>A (n.*2368G>A)
c.*859G>A (n.*859G>A)
n.4276G>A
n.919G>A
c.*1922G>A (n.*1922G>A)
c.23G>A
c.21G>A (p.Gln7=)
c.2262G>A (p.Gln754=)
c.113G>A
n.489G>A
c.246G>A (p.Gln82=)
c.2520G>A (p.Gln840=)
c.1491G>A (p.Gln497=)
c.1074G>A (p.Gln358=)
n.2974G>A
n.3900G>A
c.2631G>A (p.Gln877=)
c.2814G>A (p.Gln938=)
c.2619G>A (p.Gln873=)
c.2733G>A (p.Gln911=)
c.2898G>A (p.Gln966=)
c.3027G>A (p.Gln1009=)
c.2727G>A (p.Gln909=)
c.2691G>A (p.Gln897=)
c.2799G>A (p.Gln933=)
 dbSNP gnomAD v4
19g.10354134T>ACA403988366TYK2c.*1165A>T (n.*1165A>T)
c.2816A>T (p.Gln939Leu)
n.4192A>T
n.3230A>T
c.*2367A>T (n.*2367A>T)
c.*858A>T (n.*858A>T)
n.4275A>T
n.918A>T
c.*1921A>T (n.*1921A>T)
c.22A>T
c.20A>T (p.Gln7Leu)
c.2261A>T (p.Gln754Leu)
c.112A>T
n.488A>T
c.245A>T (p.Gln82Leu)
c.2519A>T (p.Gln840Leu)
c.1490A>T (p.Gln497Leu)
c.1073A>T (p.Gln358Leu)
n.2973A>T
n.3899A>T
c.2630A>T (p.Gln877Leu)
c.2813A>T (p.Gln938Leu)
c.2618A>T (p.Gln873Leu)
c.2732A>T (p.Gln911Leu)
c.2897A>T (p.Gln966Leu)
c.3026A>T (p.Gln1009Leu)
c.2726A>T (p.Gln909Leu)
c.2690A>T (p.Gln897Leu)
c.2798A>T (p.Gln933Leu)
 gnomAD v4
19g.10354134T>CCA403988370TYK2c.*1165A>G (n.*1165A>G)
c.2816A>G (p.Gln939Arg)
n.4192A>G
n.3230A>G
c.*2367A>G (n.*2367A>G)
c.*858A>G (n.*858A>G)
n.4275A>G
n.918A>G
c.*1921A>G (n.*1921A>G)
c.22A>G
c.20A>G (p.Gln7Arg)
c.2261A>G (p.Gln754Arg)
c.112A>G
n.488A>G
c.245A>G (p.Gln82Arg)
c.2519A>G (p.Gln840Arg)
c.1490A>G (p.Gln497Arg)
c.1073A>G (p.Gln358Arg)
n.2973A>G
n.3899A>G
c.2630A>G (p.Gln877Arg)
c.2813A>G (p.Gln938Arg)
c.2618A>G (p.Gln873Arg)
c.2732A>G (p.Gln911Arg)
c.2897A>G (p.Gln966Arg)
c.3026A>G (p.Gln1009Arg)
c.2726A>G (p.Gln909Arg)
c.2690A>G (p.Gln897Arg)
c.2798A>G (p.Gln933Arg)
19g.10354134T>GCA403988363TYK2c.*1165A>C (n.*1165A>C)
c.2816A>C (p.Gln939Pro)
n.4192A>C
n.3230A>C
c.*2367A>C (n.*2367A>C)
c.*858A>C (n.*858A>C)
n.4275A>C
n.918A>C
c.*1921A>C (n.*1921A>C)
c.22A>C
c.20A>C (p.Gln7Pro)
c.2261A>C (p.Gln754Pro)
c.112A>C
n.488A>C
c.245A>C (p.Gln82Pro)
c.2519A>C (p.Gln840Pro)
c.1490A>C (p.Gln497Pro)
c.1073A>C (p.Gln358Pro)
n.2973A>C
n.3899A>C
c.2630A>C (p.Gln877Pro)
c.2813A>C (p.Gln938Pro)
c.2618A>C (p.Gln873Pro)
c.2732A>C (p.Gln911Pro)
c.2897A>C (p.Gln966Pro)
c.3026A>C (p.Gln1009Pro)
c.2726A>C (p.Gln909Pro)
c.2690A>C (p.Gln897Pro)
c.2798A>C (p.Gln933Pro)
19g.10354135G>ACA403988375TYK2c.*1164C>T (n.*1164C>T)
c.2815C>T (p.Gln939Ter)
n.4191C>T
n.3229C>T
c.*2366C>T (n.*2366C>T)
c.*857C>T (n.*857C>T)
n.4274C>T
n.917C>T
c.*1920C>T (n.*1920C>T)
c.21C>T
c.19C>T (p.Gln7Ter)
c.2260C>T (p.Gln754Ter)
c.111C>T
n.487C>T
c.244C>T (p.Gln82Ter)
c.2518C>T (p.Gln840Ter)
c.1489C>T (p.Gln497Ter)
c.1072C>T (p.Gln358Ter)
n.2972C>T
n.3898C>T
c.2629C>T (p.Gln877Ter)
c.2812C>T (p.Gln938Ter)
c.2617C>T (p.Gln873Ter)
c.2731C>T (p.Gln911Ter)
c.2896C>T (p.Gln966Ter)
c.3025C>T (p.Gln1009Ter)
c.2725C>T (p.Gln909Ter)
c.2689C>T (p.Gln897Ter)
c.2797C>T (p.Gln933Ter)
19g.10354135G>CCA403988378TYK2c.*1164C>G (n.*1164C>G)
c.2815C>G (p.Gln939Glu)
n.4191C>G
n.3229C>G
c.*2366C>G (n.*2366C>G)
c.*857C>G (n.*857C>G)
n.4274C>G
n.917C>G
c.*1920C>G (n.*1920C>G)
c.21C>G
c.19C>G (p.Gln7Glu)
c.2260C>G (p.Gln754Glu)
c.111C>G
n.487C>G
c.244C>G (p.Gln82Glu)
c.2518C>G (p.Gln840Glu)
c.1489C>G (p.Gln497Glu)
c.1072C>G (p.Gln358Glu)
n.2972C>G
n.3898C>G
c.2629C>G (p.Gln877Glu)
c.2812C>G (p.Gln938Glu)
c.2617C>G (p.Gln873Glu)
c.2731C>G (p.Gln911Glu)
c.2896C>G (p.Gln966Glu)
c.3025C>G (p.Gln1009Glu)
c.2725C>G (p.Gln909Glu)
c.2689C>G (p.Gln897Glu)
c.2797C>G (p.Gln933Glu)
19g.10354135G>TCA403988382TYK2c.*1164C>A (n.*1164C>A)
c.2815C>A (p.Gln939Lys)
n.4191C>A
n.3229C>A
c.*2366C>A (n.*2366C>A)
c.*857C>A (n.*857C>A)
n.4274C>A
n.917C>A
c.*1920C>A (n.*1920C>A)
c.21C>A
c.19C>A (p.Gln7Lys)
c.2260C>A (p.Gln754Lys)
c.111C>A
n.487C>A
c.244C>A (p.Gln82Lys)
c.2518C>A (p.Gln840Lys)
c.1489C>A (p.Gln497Lys)
c.1072C>A (p.Gln358Lys)
n.2972C>A
n.3898C>A
c.2629C>A (p.Gln877Lys)
c.2812C>A (p.Gln938Lys)
c.2617C>A (p.Gln873Lys)
c.2731C>A (p.Gln911Lys)
c.2896C>A (p.Gln966Lys)
c.3025C>A (p.Gln1009Lys)
c.2725C>A (p.Gln909Lys)
c.2689C>A (p.Gln897Lys)
c.2797C>A (p.Gln933Lys)
19g.10354139delCA2582371513TYK2c.*1164del (n.*1164del)
c.2815del (p.Gln939SerfsTer?)
n.4191del
n.3229del
c.*2366del (n.*2366del)
c.*857del (n.*857del)
n.4274del
n.917del
c.*1920del (n.*1920del)
c.21del
c.19del (p.Gln7SerfsTer?)
c.2260del (p.Gln754SerfsTer?)
c.111del
n.487del
c.244del (p.Gln82SerfsTer?)
c.2518del (p.Gln840SerfsTer?)
c.1489del (p.Gln497SerfsTer?)
c.1072del (p.Gln358SerfsTer?)
n.2972del
n.3898del
c.2629del (p.Gln877SerfsTer?)
c.2812del (p.Gln938SerfsTer?)
c.2617del (p.Gln873SerfsTer?)
c.2731del (p.Gln911SerfsTer?)
c.2896del (p.Gln966SerfsTer?)
c.3025del (p.Gln1009SerfsTer?)
c.2725del (p.Gln909SerfsTer?)
c.2689del (p.Gln897SerfsTer?)
c.2797del (p.Gln933SerfsTer?)
 gnomAD v4
19g.10354136G>ACA505373843TYK2c.*1163C>T (n.*1163C>T)
c.2814C>T (p.Pro938=)
n.4190C>T
n.3228C>T
c.*2365C>T (n.*2365C>T)
c.*856C>T (n.*856C>T)
n.4273C>T
n.916C>T
c.*1919C>T (n.*1919C>T)
c.20C>T
c.18C>T (p.Pro6=)
c.2259C>T (p.Pro753=)
c.110C>T
n.486C>T
c.243C>T (p.Pro81=)
c.2517C>T (p.Pro839=)
c.1488C>T (p.Pro496=)
c.1071C>T (p.Pro357=)
n.2971C>T
n.3897C>T
c.2628C>T (p.Pro876=)
c.2811C>T (p.Pro937=)
c.2616C>T (p.Pro872=)
c.2730C>T (p.Pro910=)
c.2895C>T (p.Pro965=)
c.3024C>T (p.Pro1008=)
c.2724C>T (p.Pro908=)
c.2688C>T (p.Pro896=)
c.2796C>T (p.Pro932=)
 gnomAD v4
19g.10354136G>CCA9192919TYK2c.*1163C>G (n.*1163C>G)
c.2814C>G (p.Pro938=)
n.4190C>G
n.3228C>G
c.*2365C>G (n.*2365C>G)
c.*856C>G (n.*856C>G)
n.4273C>G
n.916C>G
c.*1919C>G (n.*1919C>G)
c.20C>G
c.18C>G (p.Pro6=)
c.2259C>G (p.Pro753=)
c.110C>G
n.486C>G
c.243C>G (p.Pro81=)
c.2517C>G (p.Pro839=)
c.1488C>G (p.Pro496=)
c.1071C>G (p.Pro357=)
n.2971C>G
n.3897C>G
c.2628C>G (p.Pro876=)
c.2811C>G (p.Pro937=)
c.2616C>G (p.Pro872=)
c.2730C>G (p.Pro910=)
c.2895C>G (p.Pro965=)
c.3024C>G (p.Pro1008=)
c.2724C>G (p.Pro908=)
c.2688C>G (p.Pro896=)
c.2796C>G (p.Pro932=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.10354136G=CA2322388021TYK2c.*1163C= (n.*1163C=)
c.2814C= (p.Pro938=)
n.4190C=
n.3228C=
c.*2365C= (n.*2365C=)
c.*856C= (n.*856C=)
n.4273C=
n.916C=
c.*1919C= (n.*1919C=)
c.20C=
c.18C= (p.Pro6=)
c.2259C= (p.Pro753=)
c.110C=
n.486C=
c.243C= (p.Pro81=)
c.2517C= (p.Pro839=)
c.1488C= (p.Pro496=)
c.1071C= (p.Pro357=)
n.2971C=
n.3897C=
c.2628C= (p.Pro876=)
c.2811C= (p.Pro937=)
c.2616C= (p.Pro872=)
c.2730C= (p.Pro910=)
c.2895C= (p.Pro965=)
c.3024C= (p.Pro1008=)
c.2724C= (p.Pro908=)
c.2688C= (p.Pro896=)
c.2796C= (p.Pro932=)
19g.10354136G>TCA505373839TYK2c.*1163C>A (n.*1163C>A)
c.2814C>A (p.Pro938=)
n.4190C>A
n.3228C>A
c.*2365C>A (n.*2365C>A)
c.*856C>A (n.*856C>A)
n.4273C>A
n.916C>A
c.*1919C>A (n.*1919C>A)
c.20C>A
c.18C>A (p.Pro6=)
c.2259C>A (p.Pro753=)
c.110C>A
n.486C>A
c.243C>A (p.Pro81=)
c.2517C>A (p.Pro839=)
c.1488C>A (p.Pro496=)
c.1071C>A (p.Pro357=)
n.2971C>A
n.3897C>A
c.2628C>A (p.Pro876=)
c.2811C>A (p.Pro937=)
c.2616C>A (p.Pro872=)
c.2730C>A (p.Pro910=)
c.2895C>A (p.Pro965=)
c.3024C>A (p.Pro1008=)
c.2724C>A (p.Pro908=)
c.2688C>A (p.Pro896=)
c.2796C>A (p.Pro932=)
19g.10354137G>ACA403988395TYK2c.*1162C>T (n.*1162C>T)
c.2813C>T (p.Pro938Leu)
n.4189C>T
n.3227C>T
c.*2364C>T (n.*2364C>T)
c.*855C>T (n.*855C>T)
n.4272C>T
n.915C>T
c.*1918C>T (n.*1918C>T)
c.19C>T
c.17C>T (p.Pro6Leu)
c.2258C>T (p.Pro753Leu)
c.109C>T
n.485C>T
c.242C>T (p.Pro81Leu)
c.2516C>T (p.Pro839Leu)
c.1487C>T (p.Pro496Leu)
c.1070C>T (p.Pro357Leu)
n.2970C>T
n.3896C>T
c.2627C>T (p.Pro876Leu)
c.2810C>T (p.Pro937Leu)
c.2615C>T (p.Pro872Leu)
c.2729C>T (p.Pro910Leu)
c.2894C>T (p.Pro965Leu)
c.3023C>T (p.Pro1008Leu)
c.2723C>T (p.Pro908Leu)
c.2687C>T (p.Pro896Leu)
c.2795C>T (p.Pro932Leu)
 gnomAD v4
19g.10354137G>CCA403988392TYK2c.*1162C>G (n.*1162C>G)
c.2813C>G (p.Pro938Arg)
n.4189C>G
n.3227C>G
c.*2364C>G (n.*2364C>G)
c.*855C>G (n.*855C>G)
n.4272C>G
n.915C>G
c.*1918C>G (n.*1918C>G)
c.19C>G
c.17C>G (p.Pro6Arg)
c.2258C>G (p.Pro753Arg)
c.109C>G
n.485C>G
c.242C>G (p.Pro81Arg)
c.2516C>G (p.Pro839Arg)
c.1487C>G (p.Pro496Arg)
c.1070C>G (p.Pro357Arg)
n.2970C>G
n.3896C>G
c.2627C>G (p.Pro876Arg)
c.2810C>G (p.Pro937Arg)
c.2615C>G (p.Pro872Arg)
c.2729C>G (p.Pro910Arg)
c.2894C>G (p.Pro965Arg)
c.3023C>G (p.Pro1008Arg)
c.2723C>G (p.Pro908Arg)
c.2687C>G (p.Pro896Arg)
c.2795C>G (p.Pro932Arg)
19g.10354137G>TCA403988388TYK2c.*1162C>A (n.*1162C>A)
c.2813C>A (p.Pro938His)
n.4189C>A
n.3227C>A
c.*2364C>A (n.*2364C>A)
c.*855C>A (n.*855C>A)
n.4272C>A
n.915C>A
c.*1918C>A (n.*1918C>A)
c.19C>A
c.17C>A (p.Pro6His)
c.2258C>A (p.Pro753His)
c.109C>A
n.485C>A
c.242C>A (p.Pro81His)
c.2516C>A (p.Pro839His)
c.1487C>A (p.Pro496His)
c.1070C>A (p.Pro357His)
n.2970C>A
n.3896C>A
c.2627C>A (p.Pro876His)
c.2810C>A (p.Pro937His)
c.2615C>A (p.Pro872His)
c.2729C>A (p.Pro910His)
c.2894C>A (p.Pro965His)
c.3023C>A (p.Pro1008His)
c.2723C>A (p.Pro908His)
c.2687C>A (p.Pro896His)
c.2795C>A (p.Pro932His)
19g.10354138G>ACA403988402TYK2c.*1161C>T (n.*1161C>T)
c.2812C>T (p.Pro938Ser)
n.4188C>T
n.3226C>T
c.*2363C>T (n.*2363C>T)
c.*854C>T (n.*854C>T)
n.4271C>T
n.914C>T
c.*1917C>T (n.*1917C>T)
c.18C>T
c.16C>T (p.Pro6Ser)
c.2257C>T (p.Pro753Ser)
c.108C>T
n.484C>T
c.241C>T (p.Pro81Ser)
c.2515C>T (p.Pro839Ser)
c.1486C>T (p.Pro496Ser)
c.1069C>T (p.Pro357Ser)
n.2969C>T
n.3895C>T
c.2626C>T (p.Pro876Ser)
c.2809C>T (p.Pro937Ser)
c.2614C>T (p.Pro872Ser)
c.2728C>T (p.Pro910Ser)
c.2893C>T (p.Pro965Ser)
c.3022C>T (p.Pro1008Ser)
c.2722C>T (p.Pro908Ser)
c.2686C>T (p.Pro896Ser)
c.2794C>T (p.Pro932Ser)
19g.10354138G>CCA403988406TYK2c.*1161C>G (n.*1161C>G)
c.2812C>G (p.Pro938Ala)
n.4188C>G
n.3226C>G
c.*2363C>G (n.*2363C>G)
c.*854C>G (n.*854C>G)
n.4271C>G
n.914C>G
c.*1917C>G (n.*1917C>G)
c.18C>G
c.16C>G (p.Pro6Ala)
c.2257C>G (p.Pro753Ala)
c.108C>G
n.484C>G
c.241C>G (p.Pro81Ala)
c.2515C>G (p.Pro839Ala)
c.1486C>G (p.Pro496Ala)
c.1069C>G (p.Pro357Ala)
n.2969C>G
n.3895C>G
c.2626C>G (p.Pro876Ala)
c.2809C>G (p.Pro937Ala)
c.2614C>G (p.Pro872Ala)
c.2728C>G (p.Pro910Ala)
c.2893C>G (p.Pro965Ala)
c.3022C>G (p.Pro1008Ala)
c.2722C>G (p.Pro908Ala)
c.2686C>G (p.Pro896Ala)
c.2794C>G (p.Pro932Ala)
 ClinVar dbSNP
19g.10354138G=CA2322388022TYK2c.*1161C= (n.*1161C=)
c.2812C= (p.Pro938=)
n.4188C=
n.3226C=
c.*2363C= (n.*2363C=)
c.*854C= (n.*854C=)
n.4271C=
n.914C=
c.*1917C= (n.*1917C=)
c.18C=
c.16C= (p.Pro6=)
c.2257C= (p.Pro753=)
c.108C=
n.484C=
c.241C= (p.Pro81=)
c.2515C= (p.Pro839=)
c.1486C= (p.Pro496=)
c.1069C= (p.Pro357=)
n.2969C=
n.3895C=
c.2626C= (p.Pro876=)
c.2809C= (p.Pro937=)
c.2614C= (p.Pro872=)
c.2728C= (p.Pro910=)
c.2893C= (p.Pro965=)
c.3022C= (p.Pro1008=)
c.2722C= (p.Pro908=)
c.2686C= (p.Pro896=)
c.2794C= (p.Pro932=)
19g.10354138G>TCA403988409TYK2c.*1161C>A (n.*1161C>A)
c.2812C>A (p.Pro938Thr)
n.4188C>A
n.3226C>A
c.*2363C>A (n.*2363C>A)
c.*854C>A (n.*854C>A)
n.4271C>A
n.914C>A
c.*1917C>A (n.*1917C>A)
c.18C>A
c.16C>A (p.Pro6Thr)
c.2257C>A (p.Pro753Thr)
c.108C>A
n.484C>A
c.241C>A (p.Pro81Thr)
c.2515C>A (p.Pro839Thr)
c.1486C>A (p.Pro496Thr)
c.1069C>A (p.Pro357Thr)
n.2969C>A
n.3895C>A
c.2626C>A (p.Pro876Thr)
c.2809C>A (p.Pro937Thr)
c.2614C>A (p.Pro872Thr)
c.2728C>A (p.Pro910Thr)
c.2893C>A (p.Pro965Thr)
c.3022C>A (p.Pro1008Thr)
c.2722C>A (p.Pro908Thr)
c.2686C>A (p.Pro896Thr)
c.2794C>A (p.Pro932Thr)
19g.10354139G>ACA505373863TYK2c.*1160C>T (n.*1160C>T)
c.2811C>T (p.Gly937=)
n.4187C>T
n.3225C>T
c.*2362C>T (n.*2362C>T)
c.*853C>T (n.*853C>T)
n.4270C>T
n.913C>T
c.*1916C>T (n.*1916C>T)
c.17C>T
c.15C>T (p.Gly5=)
c.2256C>T (p.Gly752=)
c.107C>T
n.483C>T
c.240C>T (p.Gly80=)
c.2514C>T (p.Gly838=)
c.1485C>T (p.Gly495=)
c.1068C>T (p.Gly356=)
n.2968C>T
n.3894C>T
c.2625C>T (p.Gly875=)
c.2808C>T (p.Gly936=)
c.2613C>T (p.Gly871=)
c.2727C>T (p.Gly909=)
c.2892C>T (p.Gly964=)
c.3021C>T (p.Gly1007=)
c.2721C>T (p.Gly907=)
c.2685C>T (p.Gly895=)
c.2793C>T (p.Gly931=)
 dbSNP gnomAD v4
19g.10354139G>CCA505373867TYK2c.*1160C>G (n.*1160C>G)
c.2811C>G (p.Gly937=)
n.4187C>G
n.3225C>G
c.*2362C>G (n.*2362C>G)
c.*853C>G (n.*853C>G)
n.4270C>G
n.913C>G
c.*1916C>G (n.*1916C>G)
c.17C>G
c.15C>G (p.Gly5=)
c.2256C>G (p.Gly752=)
c.107C>G
n.483C>G
c.240C>G (p.Gly80=)
c.2514C>G (p.Gly838=)
c.1485C>G (p.Gly495=)
c.1068C>G (p.Gly356=)
n.2968C>G
n.3894C>G
c.2625C>G (p.Gly875=)
c.2808C>G (p.Gly936=)
c.2613C>G (p.Gly871=)
c.2727C>G (p.Gly909=)
c.2892C>G (p.Gly964=)
c.3021C>G (p.Gly1007=)
c.2721C>G (p.Gly907=)
c.2685C>G (p.Gly895=)
c.2793C>G (p.Gly931=)
19g.10354139G=CA2322388023TYK2c.*1160C= (n.*1160C=)
c.2811C= (p.Gly937=)
n.4187C=
n.3225C=
c.*2362C= (n.*2362C=)
c.*853C= (n.*853C=)
n.4270C=
n.913C=
c.*1916C= (n.*1916C=)
c.17C=
c.15C= (p.Gly5=)
c.2256C= (p.Gly752=)
c.107C=
n.483C=
c.240C= (p.Gly80=)
c.2514C= (p.Gly838=)
c.1485C= (p.Gly495=)
c.1068C= (p.Gly356=)
n.2968C=
n.3894C=
c.2625C= (p.Gly875=)
c.2808C= (p.Gly936=)
c.2613C= (p.Gly871=)
c.2727C= (p.Gly909=)
c.2892C= (p.Gly964=)
c.3021C= (p.Gly1007=)
c.2721C= (p.Gly907=)
c.2685C= (p.Gly895=)
c.2793C= (p.Gly931=)
19g.10354139G>TCA505373868TYK2c.*1160C>A (n.*1160C>A)
c.2811C>A (p.Gly937=)
n.4187C>A
n.3225C>A
c.*2362C>A (n.*2362C>A)
c.*853C>A (n.*853C>A)
n.4270C>A
n.913C>A
c.*1916C>A (n.*1916C>A)
c.17C>A
c.15C>A (p.Gly5=)
c.2256C>A (p.Gly752=)
c.107C>A
n.483C>A
c.240C>A (p.Gly80=)
c.2514C>A (p.Gly838=)
c.1485C>A (p.Gly495=)
c.1068C>A (p.Gly356=)
n.2968C>A
n.3894C>A
c.2625C>A (p.Gly875=)
c.2808C>A (p.Gly936=)
c.2613C>A (p.Gly871=)
c.2727C>A (p.Gly909=)
c.2892C>A (p.Gly964=)
c.3021C>A (p.Gly1007=)
c.2721C>A (p.Gly907=)
c.2685C>A (p.Gly895=)
c.2793C>A (p.Gly931=)
19g.10354140C>ACA403988414TYK2c.*1159G>T (n.*1159G>T)
c.2810G>T (p.Gly937Val)
n.4186G>T
n.3224G>T
c.*2361G>T (n.*2361G>T)
c.*852G>T (n.*852G>T)
n.4269G>T
n.912G>T
c.*1915G>T (n.*1915G>T)
c.16G>T
c.14G>T (p.Gly5Val)
c.2255G>T (p.Gly752Val)
c.106G>T
n.482G>T
c.239G>T (p.Gly80Val)
c.2513G>T (p.Gly838Val)
c.1484G>T (p.Gly495Val)
c.1067G>T (p.Gly356Val)
n.2967G>T
n.3893G>T
c.2624G>T (p.Gly875Val)
c.2807G>T (p.Gly936Val)
c.2612G>T (p.Gly871Val)
c.2726G>T (p.Gly909Val)
c.2891G>T (p.Gly964Val)
c.3020G>T (p.Gly1007Val)
c.2720G>T (p.Gly907Val)
c.2684G>T (p.Gly895Val)
c.2792G>T (p.Gly931Val)
19g.10354140C>GCA403988416TYK2c.*1159G>C (n.*1159G>C)
c.2810G>C (p.Gly937Ala)
n.4186G>C
n.3224G>C
c.*2361G>C (n.*2361G>C)
c.*852G>C (n.*852G>C)
n.4269G>C
n.912G>C
c.*1915G>C (n.*1915G>C)
c.16G>C
c.14G>C (p.Gly5Ala)
c.2255G>C (p.Gly752Ala)
c.106G>C
n.482G>C
c.239G>C (p.Gly80Ala)
c.2513G>C (p.Gly838Ala)
c.1484G>C (p.Gly495Ala)
c.1067G>C (p.Gly356Ala)
n.2967G>C
n.3893G>C
c.2624G>C (p.Gly875Ala)
c.2807G>C (p.Gly936Ala)
c.2612G>C (p.Gly871Ala)
c.2726G>C (p.Gly909Ala)
c.2891G>C (p.Gly964Ala)
c.3020G>C (p.Gly1007Ala)
c.2720G>C (p.Gly907Ala)
c.2684G>C (p.Gly895Ala)
c.2792G>C (p.Gly931Ala)
 COSMIC
19g.10354140C>TCA403988421TYK2c.*1159G>A (n.*1159G>A)
c.2810G>A (p.Gly937Asp)
n.4186G>A
n.3224G>A
c.*2361G>A (n.*2361G>A)
c.*852G>A (n.*852G>A)
n.4269G>A
n.912G>A
c.*1915G>A (n.*1915G>A)
c.16G>A
c.14G>A (p.Gly5Asp)
c.2255G>A (p.Gly752Asp)
c.106G>A
n.482G>A
c.239G>A (p.Gly80Asp)
c.2513G>A (p.Gly838Asp)
c.1484G>A (p.Gly495Asp)
c.1067G>A (p.Gly356Asp)
n.2967G>A
n.3893G>A
c.2624G>A (p.Gly875Asp)
c.2807G>A (p.Gly936Asp)
c.2612G>A (p.Gly871Asp)
c.2726G>A (p.Gly909Asp)
c.2891G>A (p.Gly964Asp)
c.3020G>A (p.Gly1007Asp)
c.2720G>A (p.Gly907Asp)
c.2684G>A (p.Gly895Asp)
c.2792G>A (p.Gly931Asp)
19g.10354141C>ACA403988445TYK2c.*1158G>T (n.*1158G>T)
c.2809G>T (p.Gly937Cys)
n.4185G>T
n.3223G>T
c.*2360G>T (n.*2360G>T)
c.*851G>T (n.*851G>T)
n.4268G>T
n.911G>T
c.*1914G>T (n.*1914G>T)
c.15G>T
c.13G>T (p.Gly5Cys)
c.2254G>T (p.Gly752Cys)
c.105G>T
n.481G>T
c.238G>T (p.Gly80Cys)
c.2512G>T (p.Gly838Cys)
c.1483G>T (p.Gly495Cys)
c.1066G>T (p.Gly356Cys)
n.2966G>T
n.3892G>T
c.2623G>T (p.Gly875Cys)
c.2806G>T (p.Gly936Cys)
c.2611G>T (p.Gly871Cys)
c.2725G>T (p.Gly909Cys)
c.2890G>T (p.Gly964Cys)
c.3019G>T (p.Gly1007Cys)
c.2719G>T (p.Gly907Cys)
c.2683G>T (p.Gly895Cys)
c.2791G>T (p.Gly931Cys)
19g.10354141C>GCA403988439TYK2c.*1158G>C (n.*1158G>C)
c.2809G>C (p.Gly937Arg)
n.4185G>C
n.3223G>C
c.*2360G>C (n.*2360G>C)
c.*851G>C (n.*851G>C)
n.4268G>C
n.911G>C
c.*1914G>C (n.*1914G>C)
c.15G>C
c.13G>C (p.Gly5Arg)
c.2254G>C (p.Gly752Arg)
c.105G>C
n.481G>C
c.238G>C (p.Gly80Arg)
c.2512G>C (p.Gly838Arg)
c.1483G>C (p.Gly495Arg)
c.1066G>C (p.Gly356Arg)
n.2966G>C
n.3892G>C
c.2623G>C (p.Gly875Arg)
c.2806G>C (p.Gly936Arg)
c.2611G>C (p.Gly871Arg)
c.2725G>C (p.Gly909Arg)
c.2890G>C (p.Gly964Arg)
c.3019G>C (p.Gly1007Arg)
c.2719G>C (p.Gly907Arg)
c.2683G>C (p.Gly895Arg)
c.2791G>C (p.Gly931Arg)
19g.10354141C>TCA403988444TYK2c.*1158G>A (n.*1158G>A)
c.2809G>A (p.Gly937Ser)
n.4185G>A
n.3223G>A
c.*2360G>A (n.*2360G>A)
c.*851G>A (n.*851G>A)
n.4268G>A
n.911G>A
c.*1914G>A (n.*1914G>A)
c.15G>A
c.13G>A (p.Gly5Ser)
c.2254G>A (p.Gly752Ser)
c.105G>A
n.481G>A
c.238G>A (p.Gly80Ser)
c.2512G>A (p.Gly838Ser)
c.1483G>A (p.Gly495Ser)
c.1066G>A (p.Gly356Ser)
n.2966G>A
n.3892G>A
c.2623G>A (p.Gly875Ser)
c.2806G>A (p.Gly936Ser)
c.2611G>A (p.Gly871Ser)
c.2725G>A (p.Gly909Ser)
c.2890G>A (p.Gly964Ser)
c.3019G>A (p.Gly1007Ser)
c.2719G>A (p.Gly907Ser)
c.2683G>A (p.Gly895Ser)
c.2791G>A (p.Gly931Ser)
 gnomAD v4
19g.10354142G>ACA305194677TYK2c.*1157C>T (n.*1157C>T)
c.2808C>T (p.Cys936=)
n.4184C>T
n.3222C>T
c.*2359C>T (n.*2359C>T)
c.*850C>T (n.*850C>T)
n.4267C>T
n.910C>T
c.*1913C>T (n.*1913C>T)
c.14C>T
c.12C>T (p.Cys4=)
c.2253C>T (p.Cys751=)
c.104C>T
n.480C>T
c.237C>T (p.Cys79=)
c.2511C>T (p.Cys837=)
c.1482C>T (p.Cys494=)
c.1065C>T (p.Cys355=)
n.2965C>T
n.3891C>T
c.2622C>T (p.Cys874=)
c.2805C>T (p.Cys935=)
c.2610C>T (p.Cys870=)
c.2724C>T (p.Cys908=)
c.2889C>T (p.Cys963=)
c.3018C>T (p.Cys1006=)
c.2718C>T (p.Cys906=)
c.2682C>T (p.Cys894=)
c.2790C>T (p.Cys930=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10354142G>CCA403988446TYK2c.*1157C>G (n.*1157C>G)
c.2808C>G (p.Cys936Trp)
n.4184C>G
n.3222C>G
c.*2359C>G (n.*2359C>G)
c.*850C>G (n.*850C>G)
n.4267C>G
n.910C>G
c.*1913C>G (n.*1913C>G)
c.14C>G
c.12C>G (p.Cys4Trp)
c.2253C>G (p.Cys751Trp)
c.104C>G
n.480C>G
c.237C>G (p.Cys79Trp)
c.2511C>G (p.Cys837Trp)
c.1482C>G (p.Cys494Trp)
c.1065C>G (p.Cys355Trp)
n.2965C>G
n.3891C>G
c.2622C>G (p.Cys874Trp)
c.2805C>G (p.Cys935Trp)
c.2610C>G (p.Cys870Trp)
c.2724C>G (p.Cys908Trp)
c.2889C>G (p.Cys963Trp)
c.3018C>G (p.Cys1006Trp)
c.2718C>G (p.Cys906Trp)
c.2682C>G (p.Cys894Trp)
c.2790C>G (p.Cys930Trp)
19g.10354142G=CA2322388024TYK2c.*1157C= (n.*1157C=)
c.2808C= (p.Cys936=)
n.4184C=
n.3222C=
c.*2359C= (n.*2359C=)
c.*850C= (n.*850C=)
n.4267C=
n.910C=
c.*1913C= (n.*1913C=)
c.14C=
c.12C= (p.Cys4=)
c.2253C= (p.Cys751=)
c.104C=
n.480C=
c.237C= (p.Cys79=)
c.2511C= (p.Cys837=)
c.1482C= (p.Cys494=)
c.1065C= (p.Cys355=)
n.2965C=
n.3891C=
c.2622C= (p.Cys874=)
c.2805C= (p.Cys935=)
c.2610C= (p.Cys870=)
c.2724C= (p.Cys908=)
c.2889C= (p.Cys963=)
c.3018C= (p.Cys1006=)
c.2718C= (p.Cys906=)
c.2682C= (p.Cys894=)
c.2790C= (p.Cys930=)
19g.10354142G>TCA403988447TYK2c.*1157C>A (n.*1157C>A)
c.2808C>A (p.Cys936Ter)
n.4184C>A
n.3222C>A
c.*2359C>A (n.*2359C>A)
c.*850C>A (n.*850C>A)
n.4267C>A
n.910C>A
c.*1913C>A (n.*1913C>A)
c.14C>A
c.12C>A (p.Cys4Ter)
c.2253C>A (p.Cys751Ter)
c.104C>A
n.480C>A
c.237C>A (p.Cys79Ter)
c.2511C>A (p.Cys837Ter)
c.1482C>A (p.Cys494Ter)
c.1065C>A (p.Cys355Ter)
n.2965C>A
n.3891C>A
c.2622C>A (p.Cys874Ter)
c.2805C>A (p.Cys935Ter)
c.2610C>A (p.Cys870Ter)
c.2724C>A (p.Cys908Ter)
c.2889C>A (p.Cys963Ter)
c.3018C>A (p.Cys1006Ter)
c.2718C>A (p.Cys906Ter)
c.2682C>A (p.Cys894Ter)
c.2790C>A (p.Cys930Ter)
19g.10354143C>ACA403988448TYK2c.*1156G>T (n.*1156G>T)
c.2807G>T (p.Cys936Phe)
n.4183G>T
n.3221G>T
c.*2358G>T (n.*2358G>T)
c.*849G>T (n.*849G>T)
n.4266G>T
n.909G>T
c.*1912G>T (n.*1912G>T)
c.13G>T
c.11G>T (p.Cys4Phe)
c.2252G>T (p.Cys751Phe)
c.103G>T
n.479G>T
c.236G>T (p.Cys79Phe)
c.2510G>T (p.Cys837Phe)
c.1481G>T (p.Cys494Phe)
c.1064G>T (p.Cys355Phe)
n.2964G>T
n.3890G>T
c.2621G>T (p.Cys874Phe)
c.2804G>T (p.Cys935Phe)
c.2609G>T (p.Cys870Phe)
c.2723G>T (p.Cys908Phe)
c.2888G>T (p.Cys963Phe)
c.3017G>T (p.Cys1006Phe)
c.2717G>T (p.Cys906Phe)
c.2681G>T (p.Cys894Phe)
c.2789G>T (p.Cys930Phe)
 gnomAD v4
19g.10354143C>GCA403988449TYK2c.*1156G>C (n.*1156G>C)
c.2807G>C (p.Cys936Ser)
n.4183G>C
n.3221G>C
c.*2358G>C (n.*2358G>C)
c.*849G>C (n.*849G>C)
n.4266G>C
n.909G>C
c.*1912G>C (n.*1912G>C)
c.13G>C
c.11G>C (p.Cys4Ser)
c.2252G>C (p.Cys751Ser)
c.103G>C
n.479G>C
c.236G>C (p.Cys79Ser)
c.2510G>C (p.Cys837Ser)
c.1481G>C (p.Cys494Ser)
c.1064G>C (p.Cys355Ser)
n.2964G>C
n.3890G>C
c.2621G>C (p.Cys874Ser)
c.2804G>C (p.Cys935Ser)
c.2609G>C (p.Cys870Ser)
c.2723G>C (p.Cys908Ser)
c.2888G>C (p.Cys963Ser)
c.3017G>C (p.Cys1006Ser)
c.2717G>C (p.Cys906Ser)
c.2681G>C (p.Cys894Ser)
c.2789G>C (p.Cys930Ser)
19g.10354143C>TCA403988450TYK2c.*1156G>A (n.*1156G>A)
c.2807G>A (p.Cys936Tyr)
n.4183G>A
n.3221G>A
c.*2358G>A (n.*2358G>A)
c.*849G>A (n.*849G>A)
n.4266G>A
n.909G>A
c.*1912G>A (n.*1912G>A)
c.13G>A
c.11G>A (p.Cys4Tyr)
c.2252G>A (p.Cys751Tyr)
c.103G>A
n.479G>A
c.236G>A (p.Cys79Tyr)
c.2510G>A (p.Cys837Tyr)
c.1481G>A (p.Cys494Tyr)
c.1064G>A (p.Cys355Tyr)
n.2964G>A
n.3890G>A
c.2621G>A (p.Cys874Tyr)
c.2804G>A (p.Cys935Tyr)
c.2609G>A (p.Cys870Tyr)
c.2723G>A (p.Cys908Tyr)
c.2888G>A (p.Cys963Tyr)
c.3017G>A (p.Cys1006Tyr)
c.2717G>A (p.Cys906Tyr)
c.2681G>A (p.Cys894Tyr)
c.2789G>A (p.Cys930Tyr)
19g.10354144A=CA2322388025TYK2c.*1155T= (n.*1155T=)
c.2806T= (p.Cys936=)
n.4182T=
n.3220T=
c.*2357T= (n.*2357T=)
c.*848T= (n.*848T=)
n.4265T=
n.908T=
c.*1911T= (n.*1911T=)
c.12T=
c.10T= (p.Cys4=)
c.2251T= (p.Cys751=)
c.102T=
n.478T=
c.235T= (p.Cys79=)
c.2509T= (p.Cys837=)
c.1480T= (p.Cys494=)
c.1063T= (p.Cys355=)
n.2963T=
n.3889T=
c.2620T= (p.Cys874=)
c.2803T= (p.Cys935=)
c.2608T= (p.Cys870=)
c.2722T= (p.Cys908=)
c.2887T= (p.Cys963=)
c.3016T= (p.Cys1006=)
c.2716T= (p.Cys906=)
c.2680T= (p.Cys894=)
c.2788T= (p.Cys930=)
19g.10354144A>CCA403988451TYK2c.*1155T>G (n.*1155T>G)
c.2806T>G (p.Cys936Gly)
n.4182T>G
n.3220T>G
c.*2357T>G (n.*2357T>G)
c.*848T>G (n.*848T>G)
n.4265T>G
n.908T>G
c.*1911T>G (n.*1911T>G)
c.12T>G
c.10T>G (p.Cys4Gly)
c.2251T>G (p.Cys751Gly)
c.102T>G
n.478T>G
c.235T>G (p.Cys79Gly)
c.2509T>G (p.Cys837Gly)
c.1480T>G (p.Cys494Gly)
c.1063T>G (p.Cys355Gly)
n.2963T>G
n.3889T>G
c.2620T>G (p.Cys874Gly)
c.2803T>G (p.Cys935Gly)
c.2608T>G (p.Cys870Gly)
c.2722T>G (p.Cys908Gly)
c.2887T>G (p.Cys963Gly)
c.3016T>G (p.Cys1006Gly)
c.2716T>G (p.Cys906Gly)
c.2680T>G (p.Cys894Gly)
c.2788T>G (p.Cys930Gly)
19g.10354144A>GCA403988452TYK2c.*1155T>C (n.*1155T>C)
c.2806T>C (p.Cys936Arg)
n.4182T>C
n.3220T>C
c.*2357T>C (n.*2357T>C)
c.*848T>C (n.*848T>C)
n.4265T>C
n.908T>C
c.*1911T>C (n.*1911T>C)
c.12T>C
c.10T>C (p.Cys4Arg)
c.2251T>C (p.Cys751Arg)
c.102T>C
n.478T>C
c.235T>C (p.Cys79Arg)
c.2509T>C (p.Cys837Arg)
c.1480T>C (p.Cys494Arg)
c.1063T>C (p.Cys355Arg)
n.2963T>C
n.3889T>C
c.2620T>C (p.Cys874Arg)
c.2803T>C (p.Cys935Arg)
c.2608T>C (p.Cys870Arg)
c.2722T>C (p.Cys908Arg)
c.2887T>C (p.Cys963Arg)
c.3016T>C (p.Cys1006Arg)
c.2716T>C (p.Cys906Arg)
c.2680T>C (p.Cys894Arg)
c.2788T>C (p.Cys930Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10354144A>TCA403988453TYK2c.*1155T>A (n.*1155T>A)
c.2806T>A (p.Cys936Ser)
n.4182T>A
n.3220T>A
c.*2357T>A (n.*2357T>A)
c.*848T>A (n.*848T>A)
n.4265T>A
n.908T>A
c.*1911T>A (n.*1911T>A)
c.12T>A
c.10T>A (p.Cys4Ser)
c.2251T>A (p.Cys751Ser)
c.102T>A
n.478T>A
c.235T>A (p.Cys79Ser)
c.2509T>A (p.Cys837Ser)
c.1480T>A (p.Cys494Ser)
c.1063T>A (p.Cys355Ser)
n.2963T>A
n.3889T>A
c.2620T>A (p.Cys874Ser)
c.2803T>A (p.Cys935Ser)
c.2608T>A (p.Cys870Ser)
c.2722T>A (p.Cys908Ser)
c.2887T>A (p.Cys963Ser)
c.3016T>A (p.Cys1006Ser)
c.2716T>A (p.Cys906Ser)
c.2680T>A (p.Cys894Ser)
c.2788T>A (p.Cys930Ser)
19g.10354145G>ACA305194697TYK2c.*1154C>T (n.*1154C>T)
c.2805C>T (p.Asp935=)
n.4181C>T
n.3219C>T
c.*2356C>T (n.*2356C>T)
c.*847C>T (n.*847C>T)
n.4264C>T
n.907C>T
c.*1910C>T (n.*1910C>T)
c.11C>T
c.9C>T (p.Asp3=)
c.2250C>T (p.Asp750=)
c.101C>T
n.477C>T
c.234C>T (p.Asp78=)
c.2508C>T (p.Asp836=)
c.1479C>T (p.Asp493=)
c.1062C>T (p.Asp354=)
n.2962C>T
n.3888C>T
c.2619C>T (p.Asp873=)
c.2802C>T (p.Asp934=)
c.2607C>T (p.Asp869=)
c.2721C>T (p.Asp907=)
c.2886C>T (p.Asp962=)
c.3015C>T (p.Asp1005=)
c.2715C>T (p.Asp905=)
c.2679C>T (p.Asp893=)
c.2787C>T (p.Asp929=)
 dbSNP gnomAD v3 gnomAD v4
19g.10354145G>CCA403988459TYK2c.*1154C>G (n.*1154C>G)
c.2805C>G (p.Asp935Glu)
n.4181C>G
n.3219C>G
c.*2356C>G (n.*2356C>G)
c.*847C>G (n.*847C>G)
n.4264C>G
n.907C>G
c.*1910C>G (n.*1910C>G)
c.11C>G
c.9C>G (p.Asp3Glu)
c.2250C>G (p.Asp750Glu)
c.101C>G
n.477C>G
c.234C>G (p.Asp78Glu)
c.2508C>G (p.Asp836Glu)
c.1479C>G (p.Asp493Glu)
c.1062C>G (p.Asp354Glu)
n.2962C>G
n.3888C>G
c.2619C>G (p.Asp873Glu)
c.2802C>G (p.Asp934Glu)
c.2607C>G (p.Asp869Glu)
c.2721C>G (p.Asp907Glu)
c.2886C>G (p.Asp962Glu)
c.3015C>G (p.Asp1005Glu)
c.2715C>G (p.Asp905Glu)
c.2679C>G (p.Asp893Glu)
c.2787C>G (p.Asp929Glu)
19g.10354145G=CA2322388026TYK2c.*1154C= (n.*1154C=)
c.2805C= (p.Asp935=)
n.4181C=
n.3219C=
c.*2356C= (n.*2356C=)
c.*847C= (n.*847C=)
n.4264C=
n.907C=
c.*1910C= (n.*1910C=)
c.11C=
c.9C= (p.Asp3=)
c.2250C= (p.Asp750=)
c.101C=
n.477C=
c.234C= (p.Asp78=)
c.2508C= (p.Asp836=)
c.1479C= (p.Asp493=)
c.1062C= (p.Asp354=)
n.2962C=
n.3888C=
c.2619C= (p.Asp873=)
c.2802C= (p.Asp934=)
c.2607C= (p.Asp869=)
c.2721C= (p.Asp907=)
c.2886C= (p.Asp962=)
c.3015C= (p.Asp1005=)
c.2715C= (p.Asp905=)
c.2679C= (p.Asp893=)
c.2787C= (p.Asp929=)
19g.10354145G>TCA403988478TYK2c.*1154C>A (n.*1154C>A)
c.2805C>A (p.Asp935Glu)
n.4181C>A
n.3219C>A
c.*2356C>A (n.*2356C>A)
c.*847C>A (n.*847C>A)
n.4264C>A
n.907C>A
c.*1910C>A (n.*1910C>A)
c.11C>A
c.9C>A (p.Asp3Glu)
c.2250C>A (p.Asp750Glu)
c.101C>A
n.477C>A
c.234C>A (p.Asp78Glu)
c.2508C>A (p.Asp836Glu)
c.1479C>A (p.Asp493Glu)
c.1062C>A (p.Asp354Glu)
n.2962C>A
n.3888C>A
c.2619C>A (p.Asp873Glu)
c.2802C>A (p.Asp934Glu)
c.2607C>A (p.Asp869Glu)
c.2721C>A (p.Asp907Glu)
c.2886C>A (p.Asp962Glu)
c.3015C>A (p.Asp1005Glu)
c.2715C>A (p.Asp905Glu)
c.2679C>A (p.Asp893Glu)
c.2787C>A (p.Asp929Glu)
19g.10354146T>ACA403988484TYK2c.*1153A>T (n.*1153A>T)
c.2804A>T (p.Asp935Val)
n.4180A>T
n.3218A>T
c.*2355A>T (n.*2355A>T)
c.*846A>T (n.*846A>T)
n.4263A>T
n.906A>T
c.*1909A>T (n.*1909A>T)
c.10A>T
c.8A>T (p.Asp3Val)
c.2249A>T (p.Asp750Val)
c.100A>T
n.476A>T
c.233A>T (p.Asp78Val)
c.2507A>T (p.Asp836Val)
c.1478A>T (p.Asp493Val)
c.1061A>T (p.Asp354Val)
n.2961A>T
n.3887A>T
c.2618A>T (p.Asp873Val)
c.2801A>T (p.Asp934Val)
c.2606A>T (p.Asp869Val)
c.2720A>T (p.Asp907Val)
c.2885A>T (p.Asp962Val)
c.3014A>T (p.Asp1005Val)
c.2714A>T (p.Asp905Val)
c.2678A>T (p.Asp893Val)
c.2786A>T (p.Asp929Val)
19g.10354146T>CCA403988485TYK2c.*1153A>G (n.*1153A>G)
c.2804A>G (p.Asp935Gly)
n.4180A>G
n.3218A>G
c.*2355A>G (n.*2355A>G)
c.*846A>G (n.*846A>G)
n.4263A>G
n.906A>G
c.*1909A>G (n.*1909A>G)
c.10A>G
c.8A>G (p.Asp3Gly)
c.2249A>G (p.Asp750Gly)
c.100A>G
n.476A>G
c.233A>G (p.Asp78Gly)
c.2507A>G (p.Asp836Gly)
c.1478A>G (p.Asp493Gly)
c.1061A>G (p.Asp354Gly)
n.2961A>G
n.3887A>G
c.2618A>G (p.Asp873Gly)
c.2801A>G (p.Asp934Gly)
c.2606A>G (p.Asp869Gly)
c.2720A>G (p.Asp907Gly)
c.2885A>G (p.Asp962Gly)
c.3014A>G (p.Asp1005Gly)
c.2714A>G (p.Asp905Gly)
c.2678A>G (p.Asp893Gly)
c.2786A>G (p.Asp929Gly)
19g.10354146T>GCA403988490TYK2c.*1153A>C (n.*1153A>C)
c.2804A>C (p.Asp935Ala)
n.4180A>C
n.3218A>C
c.*2355A>C (n.*2355A>C)
c.*846A>C (n.*846A>C)
n.4263A>C
n.906A>C
c.*1909A>C (n.*1909A>C)
c.10A>C
c.8A>C (p.Asp3Ala)
c.2249A>C (p.Asp750Ala)
c.100A>C
n.476A>C
c.233A>C (p.Asp78Ala)
c.2507A>C (p.Asp836Ala)
c.1478A>C (p.Asp493Ala)
c.1061A>C (p.Asp354Ala)
n.2961A>C
n.3887A>C
c.2618A>C (p.Asp873Ala)
c.2801A>C (p.Asp934Ala)
c.2606A>C (p.Asp869Ala)
c.2720A>C (p.Asp907Ala)
c.2885A>C (p.Asp962Ala)
c.3014A>C (p.Asp1005Ala)
c.2714A>C (p.Asp905Ala)
c.2678A>C (p.Asp893Ala)
c.2786A>C (p.Asp929Ala)
19g.10354147C>ACA403988493TYK2c.*1152G>T (n.*1152G>T)
c.2803G>T (p.Asp935Tyr)
n.4179G>T
n.3217G>T
c.*2354G>T (n.*2354G>T)
c.*845G>T (n.*845G>T)
n.4262G>T
n.905G>T
c.*1908G>T (n.*1908G>T)
c.9G>T
c.7G>T (p.Asp3Tyr)
c.2248G>T (p.Asp750Tyr)
c.99G>T
n.475G>T
c.232G>T (p.Asp78Tyr)
c.2506G>T (p.Asp836Tyr)
c.1477G>T (p.Asp493Tyr)
c.1060G>T (p.Asp354Tyr)
n.2960G>T
n.3886G>T
c.2617G>T (p.Asp873Tyr)
c.2800G>T (p.Asp934Tyr)
c.2605G>T (p.Asp869Tyr)
c.2719G>T (p.Asp907Tyr)
c.2884G>T (p.Asp962Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2713G>T (p.Asp905Tyr)
c.2677G>T (p.Asp893Tyr)
c.2785G>T (p.Asp929Tyr)
 gnomAD v4
19g.10354147C>GCA403988514TYK2c.*1152G>C (n.*1152G>C)
c.2803G>C (p.Asp935His)
n.4179G>C
n.3217G>C
c.*2354G>C (n.*2354G>C)
c.*845G>C (n.*845G>C)
n.4262G>C
n.905G>C
c.*1908G>C (n.*1908G>C)
c.9G>C
c.7G>C (p.Asp3His)
c.2248G>C (p.Asp750His)
c.99G>C
n.475G>C
c.232G>C (p.Asp78His)
c.2506G>C (p.Asp836His)
c.1477G>C (p.Asp493His)
c.1060G>C (p.Asp354His)
n.2960G>C
n.3886G>C
c.2617G>C (p.Asp873His)
c.2800G>C (p.Asp934His)
c.2605G>C (p.Asp869His)
c.2719G>C (p.Asp907His)
c.2884G>C (p.Asp962His)
c.3013G>C (p.Asp1005His)
c.2713G>C (p.Asp905His)
c.2677G>C (p.Asp893His)
c.2785G>C (p.Asp929His)
19g.10354147C>TCA403988497TYK2c.*1152G>A (n.*1152G>A)
c.2803G>A (p.Asp935Asn)
n.4179G>A
n.3217G>A
c.*2354G>A (n.*2354G>A)
c.*845G>A (n.*845G>A)
n.4262G>A
n.905G>A
c.*1908G>A (n.*1908G>A)
c.9G>A
c.7G>A (p.Asp3Asn)
c.2248G>A (p.Asp750Asn)
c.99G>A
n.475G>A
c.232G>A (p.Asp78Asn)
c.2506G>A (p.Asp836Asn)
c.1477G>A (p.Asp493Asn)
c.1060G>A (p.Asp354Asn)
n.2960G>A
n.3886G>A
c.2617G>A (p.Asp873Asn)
c.2800G>A (p.Asp934Asn)
c.2605G>A (p.Asp869Asn)
c.2719G>A (p.Asp907Asn)
c.2884G>A (p.Asp962Asn)
c.3013G>A (p.Asp1005Asn)
c.2713G>A (p.Asp905Asn)
c.2677G>A (p.Asp893Asn)
c.2785G>A (p.Asp929Asn)
19g.10354148T>ACA505373894TYK2c.*1151A>T (n.*1151A>T)
c.2802A>T (p.Ala934=)
n.4178A>T
n.3216A>T
c.*2353A>T (n.*2353A>T)
c.*844A>T (n.*844A>T)
n.4261A>T
n.904A>T
c.*1907A>T (n.*1907A>T)
c.8A>T
c.6A>T (p.Ala2=)
c.2247A>T (p.Ala749=)
c.98A>T
n.474A>T
c.231A>T (p.Ala77=)
c.2505A>T (p.Ala835=)
c.1476A>T (p.Ala492=)
c.1059A>T (p.Ala353=)
n.2959A>T
n.3885A>T
c.2616A>T (p.Ala872=)
c.2799A>T (p.Ala933=)
c.2604A>T (p.Ala868=)
c.2718A>T (p.Ala906=)
c.2883A>T (p.Ala961=)
c.3012A>T (p.Ala1004=)
c.2712A>T (p.Ala904=)
c.2676A>T (p.Ala892=)
c.2784A>T (p.Ala928=)
 gnomAD v4
19g.10354148T>CCA505373895TYK2c.*1151A>G (n.*1151A>G)
c.2802A>G (p.Ala934=)
n.4178A>G
n.3216A>G
c.*2353A>G (n.*2353A>G)
c.*844A>G (n.*844A>G)
n.4261A>G
n.904A>G
c.*1907A>G (n.*1907A>G)
c.8A>G
c.6A>G (p.Ala2=)
c.2247A>G (p.Ala749=)
c.98A>G
n.474A>G
c.231A>G (p.Ala77=)
c.2505A>G (p.Ala835=)
c.1476A>G (p.Ala492=)
c.1059A>G (p.Ala353=)
n.2959A>G
n.3885A>G
c.2616A>G (p.Ala872=)
c.2799A>G (p.Ala933=)
c.2604A>G (p.Ala868=)
c.2718A>G (p.Ala906=)
c.2883A>G (p.Ala961=)
c.3012A>G (p.Ala1004=)
c.2712A>G (p.Ala904=)
c.2676A>G (p.Ala892=)
c.2784A>G (p.Ala928=)
19g.10354148T>GCA505373896TYK2c.*1151A>C (n.*1151A>C)
c.2802A>C (p.Ala934=)
n.4178A>C
n.3216A>C
c.*2353A>C (n.*2353A>C)
c.*844A>C (n.*844A>C)
n.4261A>C
n.904A>C
c.*1907A>C (n.*1907A>C)
c.8A>C
c.6A>C (p.Ala2=)
c.2247A>C (p.Ala749=)
c.98A>C
n.474A>C
c.231A>C (p.Ala77=)
c.2505A>C (p.Ala835=)
c.1476A>C (p.Ala492=)
c.1059A>C (p.Ala353=)
n.2959A>C
n.3885A>C
c.2616A>C (p.Ala872=)
c.2799A>C (p.Ala933=)
c.2604A>C (p.Ala868=)
c.2718A>C (p.Ala906=)
c.2883A>C (p.Ala961=)
c.3012A>C (p.Ala1004=)
c.2712A>C (p.Ala904=)
c.2676A>C (p.Ala892=)
c.2784A>C (p.Ala928=)
 dbSNP gnomAD v2 gnomAD v4
19g.10354148T=CA2322388027TYK2c.*1151A= (n.*1151A=)
c.2802A= (p.Ala934=)
n.4178A=
n.3216A=
c.*2353A= (n.*2353A=)
c.*844A= (n.*844A=)
n.4261A=
n.904A=
c.*1907A= (n.*1907A=)
c.8A=
c.6A= (p.Ala2=)
c.2247A= (p.Ala749=)
c.98A=
n.474A=
c.231A= (p.Ala77=)
c.2505A= (p.Ala835=)
c.1476A= (p.Ala492=)
c.1059A= (p.Ala353=)
n.2959A=
n.3885A=
c.2616A= (p.Ala872=)
c.2799A= (p.Ala933=)
c.2604A= (p.Ala868=)
c.2718A= (p.Ala906=)
c.2883A= (p.Ala961=)
c.3012A= (p.Ala1004=)
c.2712A= (p.Ala904=)
c.2676A= (p.Ala892=)
c.2784A= (p.Ala928=)
19g.10354149G>ACA403988518TYK2c.*1150C>T (n.*1150C>T)
c.2801C>T (p.Ala934Val)
n.4177C>T
n.3215C>T
c.*2352C>T (n.*2352C>T)
c.*843C>T (n.*843C>T)
n.4260C>T
n.903C>T
c.*1906C>T (n.*1906C>T)
c.7C>T
c.5C>T (p.Ala2Val)
c.2246C>T (p.Ala749Val)
c.97C>T
n.473C>T
c.230C>T (p.Ala77Val)
c.2504C>T (p.Ala835Val)
c.1475C>T (p.Ala492Val)
c.1058C>T (p.Ala353Val)
n.2958C>T
n.3884C>T
c.2615C>T (p.Ala872Val)
c.2798C>T (p.Ala933Val)
c.2603C>T (p.Ala868Val)
c.2717C>T (p.Ala906Val)
c.2882C>T (p.Ala961Val)
c.3011C>T (p.Ala1004Val)
c.2711C>T (p.Ala904Val)
c.2675C>T (p.Ala892Val)
c.2783C>T (p.Ala928Val)
19g.10354149G>CCA403988521TYK2c.*1150C>G (n.*1150C>G)
c.2801C>G (p.Ala934Gly)
n.4177C>G
n.3215C>G
c.*2352C>G (n.*2352C>G)
c.*843C>G (n.*843C>G)
n.4260C>G
n.903C>G
c.*1906C>G (n.*1906C>G)
c.7C>G
c.5C>G (p.Ala2Gly)
c.2246C>G (p.Ala749Gly)
c.97C>G
n.473C>G
c.230C>G (p.Ala77Gly)
c.2504C>G (p.Ala835Gly)
c.1475C>G (p.Ala492Gly)
c.1058C>G (p.Ala353Gly)
n.2958C>G
n.3884C>G
c.2615C>G (p.Ala872Gly)
c.2798C>G (p.Ala933Gly)
c.2603C>G (p.Ala868Gly)
c.2717C>G (p.Ala906Gly)
c.2882C>G (p.Ala961Gly)
c.3011C>G (p.Ala1004Gly)
c.2711C>G (p.Ala904Gly)
c.2675C>G (p.Ala892Gly)
c.2783C>G (p.Ala928Gly)
 dbSNP
19g.10354149G=CA2322388028TYK2c.*1150C= (n.*1150C=)
c.2801C= (p.Ala934=)
n.4177C=
n.3215C=
c.*2352C= (n.*2352C=)
c.*843C= (n.*843C=)
n.4260C=
n.903C=
c.*1906C= (n.*1906C=)
c.7C=
c.5C= (p.Ala2=)
c.2246C= (p.Ala749=)
c.97C=
n.473C=
c.230C= (p.Ala77=)
c.2504C= (p.Ala835=)
c.1475C= (p.Ala492=)
c.1058C= (p.Ala353=)
n.2958C=
n.3884C=
c.2615C= (p.Ala872=)
c.2798C= (p.Ala933=)
c.2603C= (p.Ala868=)
c.2717C= (p.Ala906=)
c.2882C= (p.Ala961=)
c.3011C= (p.Ala1004=)
c.2711C= (p.Ala904=)
c.2675C= (p.Ala892=)
c.2783C= (p.Ala928=)
19g.10354149G>TCA403988523TYK2c.*1150C>A (n.*1150C>A)
c.2801C>A (p.Ala934Glu)
n.4177C>A
n.3215C>A
c.*2352C>A (n.*2352C>A)
c.*843C>A (n.*843C>A)
n.4260C>A
n.903C>A
c.*1906C>A (n.*1906C>A)
c.7C>A
c.5C>A (p.Ala2Glu)
c.2246C>A (p.Ala749Glu)
c.97C>A
n.473C>A
c.230C>A (p.Ala77Glu)
c.2504C>A (p.Ala835Glu)
c.1475C>A (p.Ala492Glu)
c.1058C>A (p.Ala353Glu)
n.2958C>A
n.3884C>A
c.2615C>A (p.Ala872Glu)
c.2798C>A (p.Ala933Glu)
c.2603C>A (p.Ala868Glu)
c.2717C>A (p.Ala906Glu)
c.2882C>A (p.Ala961Glu)
c.3011C>A (p.Ala1004Glu)
c.2711C>A (p.Ala904Glu)
c.2675C>A (p.Ala892Glu)
c.2783C>A (p.Ala928Glu)
 gnomAD v4
19g.10354150C>ACA403988531TYK2c.*1149G>T (n.*1149G>T)
c.2800G>T (p.Ala934Ser)
n.4176G>T
n.3214G>T
c.*2351G>T (n.*2351G>T)
c.*842G>T (n.*842G>T)
n.4259G>T
n.902G>T
c.*1905G>T (n.*1905G>T)
c.6G>T
c.4G>T (p.Ala2Ser)
c.2245G>T (p.Ala749Ser)
c.96G>T
n.472G>T
c.229G>T (p.Ala77Ser)
c.2503G>T (p.Ala835Ser)
c.1474G>T (p.Ala492Ser)
c.1057G>T (p.Ala353Ser)
n.2957G>T
n.3883G>T
c.2614G>T (p.Ala872Ser)
c.2797G>T (p.Ala933Ser)
c.2602G>T (p.Ala868Ser)
c.2716G>T (p.Ala906Ser)
c.2881G>T (p.Ala961Ser)
c.3010G>T (p.Ala1004Ser)
c.2710G>T (p.Ala904Ser)
c.2674G>T (p.Ala892Ser)
c.2782G>T (p.Ala928Ser)
19g.10354150C>GCA403988533TYK2c.*1149G>C (n.*1149G>C)
c.2800G>C (p.Ala934Pro)
n.4176G>C
n.3214G>C
c.*2351G>C (n.*2351G>C)
c.*842G>C (n.*842G>C)
n.4259G>C
n.902G>C
c.*1905G>C (n.*1905G>C)
c.6G>C
c.4G>C (p.Ala2Pro)
c.2245G>C (p.Ala749Pro)
c.96G>C
n.472G>C
c.229G>C (p.Ala77Pro)
c.2503G>C (p.Ala835Pro)
c.1474G>C (p.Ala492Pro)
c.1057G>C (p.Ala353Pro)
n.2957G>C
n.3883G>C
c.2614G>C (p.Ala872Pro)
c.2797G>C (p.Ala933Pro)
c.2602G>C (p.Ala868Pro)
c.2716G>C (p.Ala906Pro)
c.2881G>C (p.Ala961Pro)
c.3010G>C (p.Ala1004Pro)
c.2710G>C (p.Ala904Pro)
c.2674G>C (p.Ala892Pro)
c.2782G>C (p.Ala928Pro)
19g.10354150C>TCA403988534TYK2c.*1149G>A (n.*1149G>A)
c.2800G>A (p.Ala934Thr)
n.4176G>A
n.3214G>A
c.*2351G>A (n.*2351G>A)
c.*842G>A (n.*842G>A)
n.4259G>A
n.902G>A
c.*1905G>A (n.*1905G>A)
c.6G>A
c.4G>A (p.Ala2Thr)
c.2245G>A (p.Ala749Thr)
c.96G>A
n.472G>A
c.229G>A (p.Ala77Thr)
c.2503G>A (p.Ala835Thr)
c.1474G>A (p.Ala492Thr)
c.1057G>A (p.Ala353Thr)
n.2957G>A
n.3883G>A
c.2614G>A (p.Ala872Thr)
c.2797G>A (p.Ala933Thr)
c.2602G>A (p.Ala868Thr)
c.2716G>A (p.Ala906Thr)
c.2881G>A (p.Ala961Thr)
c.3010G>A (p.Ala1004Thr)
c.2710G>A (p.Ala904Thr)
c.2674G>A (p.Ala892Thr)
c.2782G>A (p.Ala928Thr)
19g.10354151C>ACA403988539TYK2c.*1148G>T (n.*1148G>T)
c.2799G>T (p.Lys933Asn)
n.4175G>T
n.3213G>T
c.*2350G>T (n.*2350G>T)
c.*841G>T (n.*841G>T)
n.4258G>T
n.901G>T
c.*1904G>T (n.*1904G>T)
c.5G>T
c.3G>T (p.Lys1Asn)
c.2244G>T (p.Lys748Asn)
c.95G>T
n.471G>T
c.228G>T (p.Lys76Asn)
c.2502G>T (p.Lys834Asn)
c.1473G>T (p.Lys491Asn)
c.1056G>T (p.Lys352Asn)
n.2956G>T
n.3882G>T
c.2613G>T (p.Lys871Asn)
c.2796G>T (p.Lys932Asn)
c.2601G>T (p.Lys867Asn)
c.2715G>T (p.Lys905Asn)
c.2880G>T (p.Lys960Asn)
c.3009G>T (p.Lys1003Asn)
c.2709G>T (p.Lys903Asn)
c.2673G>T (p.Lys891Asn)
c.2781G>T (p.Lys927Asn)
19g.10354151C=CA2322388029TYK2c.*1148G= (n.*1148G=)
c.2799G= (p.Lys933=)
n.4175G=
n.3213G=
c.*2350G= (n.*2350G=)
c.*841G= (n.*841G=)
n.4258G=
n.901G=
c.*1904G= (n.*1904G=)
c.5G=
c.3G= (p.Lys1=)
c.2244G= (p.Lys748=)
c.95G=
n.471G=
c.228G= (p.Lys76=)
c.2502G= (p.Lys834=)
c.1473G= (p.Lys491=)
c.1056G= (p.Lys352=)
n.2956G=
n.3882G=
c.2613G= (p.Lys871=)
c.2796G= (p.Lys932=)
c.2601G= (p.Lys867=)
c.2715G= (p.Lys905=)
c.2880G= (p.Lys960=)
c.3009G= (p.Lys1003=)
c.2709G= (p.Lys903=)
c.2673G= (p.Lys891=)
c.2781G= (p.Lys927=)
19g.10354151C>GCA403988535TYK2c.*1148G>C (n.*1148G>C)
c.2799G>C (p.Lys933Asn)
n.4175G>C
n.3213G>C
c.*2350G>C (n.*2350G>C)
c.*841G>C (n.*841G>C)
n.4258G>C
n.901G>C
c.*1904G>C (n.*1904G>C)
c.5G>C
c.3G>C (p.Lys1Asn)
c.2244G>C (p.Lys748Asn)
c.95G>C
n.471G>C
c.228G>C (p.Lys76Asn)
c.2502G>C (p.Lys834Asn)
c.1473G>C (p.Lys491Asn)
c.1056G>C (p.Lys352Asn)
n.2956G>C
n.3882G>C
c.2613G>C (p.Lys871Asn)
c.2796G>C (p.Lys932Asn)
c.2601G>C (p.Lys867Asn)
c.2715G>C (p.Lys905Asn)
c.2880G>C (p.Lys960Asn)
c.3009G>C (p.Lys1003Asn)
c.2709G>C (p.Lys903Asn)
c.2673G>C (p.Lys891Asn)
c.2781G>C (p.Lys927Asn)
19g.10354151C>TCA505373908TYK2c.*1148G>A (n.*1148G>A)
c.2799G>A (p.Lys933=)
n.4175G>A
n.3213G>A
c.*2350G>A (n.*2350G>A)
c.*841G>A (n.*841G>A)
n.4258G>A
n.901G>A
c.*1904G>A (n.*1904G>A)
c.5G>A
c.3G>A (p.Lys1=)
c.2244G>A (p.Lys748=)
c.95G>A
n.471G>A
c.228G>A (p.Lys76=)
c.2502G>A (p.Lys834=)
c.1473G>A (p.Lys491=)
c.1056G>A (p.Lys352=)
n.2956G>A
n.3882G>A
c.2613G>A (p.Lys871=)
c.2796G>A (p.Lys932=)
c.2601G>A (p.Lys867=)
c.2715G>A (p.Lys905=)
c.2880G>A (p.Lys960=)
c.3009G>A (p.Lys1003=)
c.2709G>A (p.Lys903=)
c.2673G>A (p.Lys891=)
c.2781G>A (p.Lys927=)
 dbSNP gnomAD v2 gnomAD v4
19g.10354152T>ACA403988544TYK2c.*1147A>T (n.*1147A>T)
c.2798A>T (p.Lys933Met)
n.4174A>T
n.3212A>T
c.*2349A>T (n.*2349A>T)
c.*840A>T (n.*840A>T)
n.4257A>T
n.900A>T
c.*1903A>T (n.*1903A>T)
c.4A>T
c.2A>T (p.Lys1Met)
c.2243A>T (p.Lys748Met)
c.94A>T
n.470A>T
c.227A>T (p.Lys76Met)
c.2501A>T (p.Lys834Met)
c.1472A>T (p.Lys491Met)
c.1055A>T (p.Lys352Met)
n.2955A>T
n.3881A>T
c.2612A>T (p.Lys871Met)
c.2795A>T (p.Lys932Met)
c.2600A>T (p.Lys867Met)
c.2714A>T (p.Lys905Met)
c.2879A>T (p.Lys960Met)
c.3008A>T (p.Lys1003Met)
c.2708A>T (p.Lys903Met)
c.2672A>T (p.Lys891Met)
c.2780A>T (p.Lys927Met)
19g.10354152T>CCA403988547TYK2c.*1147A>G (n.*1147A>G)
c.2798A>G (p.Lys933Arg)
n.4174A>G
n.3212A>G
c.*2349A>G (n.*2349A>G)
c.*840A>G (n.*840A>G)
n.4257A>G
n.900A>G
c.*1903A>G (n.*1903A>G)
c.4A>G
c.2A>G (p.Lys1Arg)
c.2243A>G (p.Lys748Arg)
c.94A>G
n.470A>G
c.227A>G (p.Lys76Arg)
c.2501A>G (p.Lys834Arg)
c.1472A>G (p.Lys491Arg)
c.1055A>G (p.Lys352Arg)
n.2955A>G
n.3881A>G
c.2612A>G (p.Lys871Arg)
c.2795A>G (p.Lys932Arg)
c.2600A>G (p.Lys867Arg)
c.2714A>G (p.Lys905Arg)
c.2879A>G (p.Lys960Arg)
c.3008A>G (p.Lys1003Arg)
c.2708A>G (p.Lys903Arg)
c.2672A>G (p.Lys891Arg)
c.2780A>G (p.Lys927Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.10354152T>GCA403988552TYK2c.*1147A>C (n.*1147A>C)
c.2798A>C (p.Lys933Thr)
n.4174A>C
n.3212A>C
c.*2349A>C (n.*2349A>C)
c.*840A>C (n.*840A>C)
n.4257A>C
n.900A>C
c.*1903A>C (n.*1903A>C)
c.4A>C
c.2A>C (p.Lys1Thr)
c.2243A>C (p.Lys748Thr)
c.94A>C
n.470A>C
c.227A>C (p.Lys76Thr)
c.2501A>C (p.Lys834Thr)
c.1472A>C (p.Lys491Thr)
c.1055A>C (p.Lys352Thr)
n.2955A>C
n.3881A>C
c.2612A>C (p.Lys871Thr)
c.2795A>C (p.Lys932Thr)
c.2600A>C (p.Lys867Thr)
c.2714A>C (p.Lys905Thr)
c.2879A>C (p.Lys960Thr)
c.3008A>C (p.Lys1003Thr)
c.2708A>C (p.Lys903Thr)
c.2672A>C (p.Lys891Thr)
c.2780A>C (p.Lys927Thr)
19g.10354152T=CA2322388030TYK2c.*1147A= (n.*1147A=)
c.2798A= (p.Lys933=)
n.4174A=
n.3212A=
c.*2349A= (n.*2349A=)
c.*840A= (n.*840A=)
n.4257A=
n.900A=
c.*1903A= (n.*1903A=)
c.4A=
c.2A= (p.Lys1=)
c.2243A= (p.Lys748=)
c.94A=
n.470A=
c.227A= (p.Lys76=)
c.2501A= (p.Lys834=)
c.1472A= (p.Lys491=)
c.1055A= (p.Lys352=)
n.2955A=
n.3881A=
c.2612A= (p.Lys871=)
c.2795A= (p.Lys932=)
c.2600A= (p.Lys867=)
c.2714A= (p.Lys905=)
c.2879A= (p.Lys960=)
c.3008A= (p.Lys1003=)
c.2708A= (p.Lys903=)
c.2672A= (p.Lys891=)
c.2780A= (p.Lys927=)
19g.10354153T>ACA403988556TYK2c.*1146A>T (n.*1146A>T)
c.2797A>T (p.Lys933Ter)
n.4173A>T
n.3211A>T
c.*2348A>T (n.*2348A>T)
c.*839A>T (n.*839A>T)
n.4256A>T
n.899A>T
c.*1902A>T (n.*1902A>T)
c.3A>T
c.1A>T (p.Lys1Ter)
c.2242A>T (p.Lys748Ter)
c.93A>T
n.469A>T
c.226A>T (p.Lys76Ter)
c.2500A>T (p.Lys834Ter)
c.1471A>T (p.Lys491Ter)
c.1054A>T (p.Lys352Ter)
n.2954A>T
n.3880A>T
c.2611A>T (p.Lys871Ter)
c.2794A>T (p.Lys932Ter)
c.2599A>T (p.Lys867Ter)
c.2713A>T (p.Lys905Ter)
c.2878A>T (p.Lys960Ter)
c.3007A>T (p.Lys1003Ter)
c.2707A>T (p.Lys903Ter)
c.2671A>T (p.Lys891Ter)
c.2779A>T (p.Lys927Ter)
19g.10354153T>CCA403988558TYK2c.*1146A>G (n.*1146A>G)
c.2797A>G (p.Lys933Glu)
n.4173A>G
n.3211A>G
c.*2348A>G (n.*2348A>G)
c.*839A>G (n.*839A>G)
n.4256A>G
n.899A>G
c.*1902A>G (n.*1902A>G)
c.3A>G
c.1A>G (p.Lys1Glu)
c.2242A>G (p.Lys748Glu)
c.93A>G
n.469A>G
c.226A>G (p.Lys76Glu)
c.2500A>G (p.Lys834Glu)
c.1471A>G (p.Lys491Glu)
c.1054A>G (p.Lys352Glu)
n.2954A>G
n.3880A>G
c.2611A>G (p.Lys871Glu)
c.2794A>G (p.Lys932Glu)
c.2599A>G (p.Lys867Glu)
c.2713A>G (p.Lys905Glu)
c.2878A>G (p.Lys960Glu)
c.3007A>G (p.Lys1003Glu)
c.2707A>G (p.Lys903Glu)
c.2671A>G (p.Lys891Glu)
c.2779A>G (p.Lys927Glu)
 gnomAD v4
19g.10354153T>GCA403988559TYK2c.*1146A>C (n.*1146A>C)
c.2797A>C (p.Lys933Gln)
n.4173A>C
n.3211A>C
c.*2348A>C (n.*2348A>C)
c.*839A>C (n.*839A>C)
n.4256A>C
n.899A>C
c.*1902A>C (n.*1902A>C)
c.3A>C
c.1A>C (p.Lys1Gln)
c.2242A>C (p.Lys748Gln)
c.93A>C
n.469A>C
c.226A>C (p.Lys76Gln)
c.2500A>C (p.Lys834Gln)
c.1471A>C (p.Lys491Gln)
c.1054A>C (p.Lys352Gln)
n.2954A>C
n.3880A>C
c.2611A>C (p.Lys871Gln)
c.2794A>C (p.Lys932Gln)
c.2599A>C (p.Lys867Gln)
c.2713A>C (p.Lys905Gln)
c.2878A>C (p.Lys960Gln)
c.3007A>C (p.Lys1003Gln)
c.2707A>C (p.Lys903Gln)
c.2671A>C (p.Lys891Gln)
c.2779A>C (p.Lys927Gln)
19g.10354154G>ACA505373916TYK2c.*1145C>T (n.*1145C>T)
c.2796C>T (p.Leu932=)
n.4172C>T
n.3210C>T
c.*2347C>T (n.*2347C>T)
c.*838C>T (n.*838C>T)
n.4255C>T
n.898C>T
c.*1901C>T (n.*1901C>T)
c.2C>T
c.2241C>T (p.Leu747=)
c.92C>T
n.468C>T
c.225C>T (p.Leu75=)
c.2499C>T (p.Leu833=)
c.1470C>T (p.Leu490=)
c.1053C>T (p.Leu351=)
n.2953C>T
n.3879C>T
c.2610C>T (p.Leu870=)
c.2793C>T (p.Leu931=)
c.2598C>T (p.Leu866=)
c.2712C>T (p.Leu904=)
c.2877C>T (p.Leu959=)
c.3006C>T (p.Leu1002=)
c.2706C>T (p.Leu902=)
c.2670C>T (p.Leu890=)
c.2778C>T (p.Leu926=)
19g.10354154G>CCA505373921TYK2c.*1145C>G (n.*1145C>G)
c.2796C>G (p.Leu932=)
n.4172C>G
n.3210C>G
c.*2347C>G (n.*2347C>G)
c.*838C>G (n.*838C>G)
n.4255C>G
n.898C>G
c.*1901C>G (n.*1901C>G)
c.2C>G
c.2241C>G (p.Leu747=)
c.92C>G
n.468C>G
c.225C>G (p.Leu75=)
c.2499C>G (p.Leu833=)
c.1470C>G (p.Leu490=)
c.1053C>G (p.Leu351=)
n.2953C>G
n.3879C>G
c.2610C>G (p.Leu870=)
c.2793C>G (p.Leu931=)
c.2598C>G (p.Leu866=)
c.2712C>G (p.Leu904=)
c.2877C>G (p.Leu959=)
c.3006C>G (p.Leu1002=)
c.2706C>G (p.Leu902=)
c.2670C>G (p.Leu890=)
c.2778C>G (p.Leu926=)
19g.10354154G>TCA505373924TYK2c.*1145C>A (n.*1145C>A)
c.2796C>A (p.Leu932=)
n.4172C>A
n.3210C>A
c.*2347C>A (n.*2347C>A)
c.*838C>A (n.*838C>A)
n.4255C>A
n.898C>A
c.*1901C>A (n.*1901C>A)
c.2C>A
c.2241C>A (p.Leu747=)
c.92C>A
n.468C>A
c.225C>A (p.Leu75=)
c.2499C>A (p.Leu833=)
c.1470C>A (p.Leu490=)
c.1053C>A (p.Leu351=)
n.2953C>A
n.3879C>A
c.2610C>A (p.Leu870=)
c.2793C>A (p.Leu931=)
c.2598C>A (p.Leu866=)
c.2712C>A (p.Leu904=)
c.2877C>A (p.Leu959=)
c.3006C>A (p.Leu1002=)
c.2706C>A (p.Leu902=)
c.2670C>A (p.Leu890=)
c.2778C>A (p.Leu926=)
19g.10354155A>CCA403988561TYK2c.*1144T>G (n.*1144T>G)
c.2795T>G (p.Leu932Arg)
n.4171T>G
n.3209T>G
c.*2346T>G (n.*2346T>G)
c.*837T>G (n.*837T>G)
n.4254T>G
n.897T>G
c.*1900T>G (n.*1900T>G)
c.1T>G
c.2240T>G (p.Leu747Arg)
c.91T>G
n.467T>G
c.224T>G (p.Leu75Arg)
c.2498T>G (p.Leu833Arg)
c.1469T>G (p.Leu490Arg)
c.1052T>G (p.Leu351Arg)
n.2952T>G
n.3878T>G
c.2609T>G (p.Leu870Arg)
c.2792T>G (p.Leu931Arg)
c.2597T>G (p.Leu866Arg)
c.2711T>G (p.Leu904Arg)
c.2876T>G (p.Leu959Arg)
c.3005T>G (p.Leu1002Arg)
c.2705T>G (p.Leu902Arg)
c.2669T>G (p.Leu890Arg)
c.2777T>G (p.Leu926Arg)
19g.10354155A>GCA403988566TYK2c.*1144T>C (n.*1144T>C)
c.2795T>C (p.Leu932Pro)
n.4171T>C
n.3209T>C
c.*2346T>C (n.*2346T>C)
c.*837T>C (n.*837T>C)
n.4254T>C
n.897T>C
c.*1900T>C (n.*1900T>C)
c.1T>C
c.2240T>C (p.Leu747Pro)
c.91T>C
n.467T>C
c.224T>C (p.Leu75Pro)
c.2498T>C (p.Leu833Pro)
c.1469T>C (p.Leu490Pro)
c.1052T>C (p.Leu351Pro)
n.2952T>C
n.3878T>C
c.2609T>C (p.Leu870Pro)
c.2792T>C (p.Leu931Pro)
c.2597T>C (p.Leu866Pro)
c.2711T>C (p.Leu904Pro)
c.2876T>C (p.Leu959Pro)
c.3005T>C (p.Leu1002Pro)
c.2705T>C (p.Leu902Pro)
c.2669T>C (p.Leu890Pro)
c.2777T>C (p.Leu926Pro)
19g.10354155A>TCA403988563TYK2c.*1144T>A (n.*1144T>A)
c.2795T>A (p.Leu932His)
n.4171T>A
n.3209T>A
c.*2346T>A (n.*2346T>A)
c.*837T>A (n.*837T>A)
n.4254T>A
n.897T>A
c.*1900T>A (n.*1900T>A)
c.1T>A
c.2240T>A (p.Leu747His)
c.91T>A
n.467T>A
c.224T>A (p.Leu75His)
c.2498T>A (p.Leu833His)
c.1469T>A (p.Leu490His)
c.1052T>A (p.Leu351His)
n.2952T>A
n.3878T>A
c.2609T>A (p.Leu870His)
c.2792T>A (p.Leu931His)
c.2597T>A (p.Leu866His)
c.2711T>A (p.Leu904His)
c.2876T>A (p.Leu959His)
c.3005T>A (p.Leu1002His)
c.2705T>A (p.Leu902His)
c.2669T>A (p.Leu890His)
c.2777T>A (p.Leu926His)
19g.10354156G>ACA403988569TYK2c.*1143C>T (n.*1143C>T)
c.2794C>T (p.Leu932Phe)
n.4170C>T
n.3208C>T
c.*2345C>T (n.*2345C>T)
c.*836C>T (n.*836C>T)
n.4253C>T
n.896C>T
c.*1899C>T (n.*1899C>T)
c.2239C>T (p.Leu747Phe)
c.90C>T
n.466C>T
c.223C>T (p.Leu75Phe)
c.2497C>T (p.Leu833Phe)
c.1468C>T (p.Leu490Phe)
c.1051C>T (p.Leu351Phe)
n.2951C>T
n.3877C>T
c.2608C>T (p.Leu870Phe)
c.2791C>T (p.Leu931Phe)
c.2596C>T (p.Leu866Phe)
c.2710C>T (p.Leu904Phe)
c.2875C>T (p.Leu959Phe)
c.3004C>T (p.Leu1002Phe)
c.2704C>T (p.Leu902Phe)
c.2668C>T (p.Leu890Phe)
c.2776C>T (p.Leu926Phe)
19g.10354156G>CCA403988571TYK2c.*1143C>G (n.*1143C>G)
c.2794C>G (p.Leu932Val)
n.4170C>G
n.3208C>G
c.*2345C>G (n.*2345C>G)
c.*836C>G (n.*836C>G)
n.4253C>G
n.896C>G
c.*1899C>G (n.*1899C>G)
c.2239C>G (p.Leu747Val)
c.90C>G
n.466C>G
c.223C>G (p.Leu75Val)
c.2497C>G (p.Leu833Val)
c.1468C>G (p.Leu490Val)
c.1051C>G (p.Leu351Val)
n.2951C>G
n.3877C>G
c.2608C>G (p.Leu870Val)
c.2791C>G (p.Leu931Val)
c.2596C>G (p.Leu866Val)
c.2710C>G (p.Leu904Val)
c.2875C>G (p.Leu959Val)
c.3004C>G (p.Leu1002Val)
c.2704C>G (p.Leu902Val)
c.2668C>G (p.Leu890Val)
c.2776C>G (p.Leu926Val)
 dbSNP gnomAD v3 gnomAD v4
19g.10354156G=CA2322388031TYK2c.*1143C= (n.*1143C=)
c.2794C= (p.Leu932=)
n.4170C=
n.3208C=
c.*2345C= (n.*2345C=)
c.*836C= (n.*836C=)
n.4253C=
n.896C=
c.*1899C= (n.*1899C=)
c.2239C= (p.Leu747=)
c.90C=
n.466C=
c.223C= (p.Leu75=)
c.2497C= (p.Leu833=)
c.1468C= (p.Leu490=)
c.1051C= (p.Leu351=)
n.2951C=
n.3877C=
c.2608C= (p.Leu870=)
c.2791C= (p.Leu931=)
c.2596C= (p.Leu866=)
c.2710C= (p.Leu904=)
c.2875C= (p.Leu959=)
c.3004C= (p.Leu1002=)
c.2704C= (p.Leu902=)
c.2668C= (p.Leu890=)
c.2776C= (p.Leu926=)
19g.10354156G>TCA403988572TYK2c.*1143C>A (n.*1143C>A)
c.2794C>A (p.Leu932Ile)
n.4170C>A
n.3208C>A
c.*2345C>A (n.*2345C>A)
c.*836C>A (n.*836C>A)
n.4253C>A
n.896C>A
c.*1899C>A (n.*1899C>A)
c.2239C>A (p.Leu747Ile)
c.90C>A
n.466C>A
c.223C>A (p.Leu75Ile)
c.2497C>A (p.Leu833Ile)
c.1468C>A (p.Leu490Ile)
c.1051C>A (p.Leu351Ile)
n.2951C>A
n.3877C>A
c.2608C>A (p.Leu870Ile)
c.2791C>A (p.Leu931Ile)
c.2596C>A (p.Leu866Ile)
c.2710C>A (p.Leu904Ile)
c.2875C>A (p.Leu959Ile)
c.3004C>A (p.Leu1002Ile)
c.2704C>A (p.Leu902Ile)
c.2668C>A (p.Leu890Ile)
c.2776C>A (p.Leu926Ile)
19g.10354157G>ACA505373933TYK2c.*1142C>T (n.*1142C>T)
c.2793C>T (p.Ala931=)
n.4169C>T
n.3207C>T
c.*2344C>T (n.*2344C>T)
c.*835C>T (n.*835C>T)
n.4252C>T
n.895C>T
c.*1898C>T (n.*1898C>T)
c.2238C>T (p.Ala746=)
c.89C>T
n.465C>T
c.222C>T (p.Ala74=)
c.2496C>T (p.Ala832=)
c.1467C>T (p.Ala489=)
c.1050C>T (p.Ala350=)
n.2950C>T
n.3876C>T
c.2607C>T (p.Ala869=)
c.2790C>T (p.Ala930=)
c.2595C>T (p.Ala865=)
c.2709C>T (p.Ala903=)
c.2874C>T (p.Ala958=)
c.3003C>T (p.Ala1001=)
c.2703C>T (p.Ala901=)
c.2667C>T (p.Ala889=)
c.2775C>T (p.Ala925=)
 gnomAD v4
19g.10354157G>CCA505373932TYK2c.*1142C>G (n.*1142C>G)
c.2793C>G (p.Ala931=)
n.4169C>G
n.3207C>G
c.*2344C>G (n.*2344C>G)
c.*835C>G (n.*835C>G)
n.4252C>G
n.895C>G
c.*1898C>G (n.*1898C>G)
c.2238C>G (p.Ala746=)
c.89C>G
n.465C>G
c.222C>G (p.Ala74=)
c.2496C>G (p.Ala832=)
c.1467C>G (p.Ala489=)
c.1050C>G (p.Ala350=)
n.2950C>G
n.3876C>G
c.2607C>G (p.Ala869=)
c.2790C>G (p.Ala930=)
c.2595C>G (p.Ala865=)
c.2709C>G (p.Ala903=)
c.2874C>G (p.Ala958=)
c.3003C>G (p.Ala1001=)
c.2703C>G (p.Ala901=)
c.2667C>G (p.Ala889=)
c.2775C>G (p.Ala925=)
19g.10354157G>TCA505373931TYK2c.*1142C>A (n.*1142C>A)
c.2793C>A (p.Ala931=)
n.4169C>A
n.3207C>A
c.*2344C>A (n.*2344C>A)
c.*835C>A (n.*835C>A)
n.4252C>A
n.895C>A
c.*1898C>A (n.*1898C>A)
c.2238C>A (p.Ala746=)
c.89C>A
n.465C>A
c.222C>A (p.Ala74=)
c.2496C>A (p.Ala832=)
c.1467C>A (p.Ala489=)
c.1050C>A (p.Ala350=)
n.2950C>A
n.3876C>A
c.2607C>A (p.Ala869=)
c.2790C>A (p.Ala930=)
c.2595C>A (p.Ala865=)
c.2709C>A (p.Ala903=)
c.2874C>A (p.Ala958=)
c.3003C>A (p.Ala1001=)
c.2703C>A (p.Ala901=)
c.2667C>A (p.Ala889=)
c.2775C>A (p.Ala925=)
19g.10354158G>ACA9192921TYK2c.*1141C>T (n.*1141C>T)
c.2792C>T (p.Ala931Val)
n.4168C>T
n.3206C>T
c.*2343C>T (n.*2343C>T)
c.*834C>T (n.*834C>T)
n.4251C>T
n.894C>T
c.*1897C>T (n.*1897C>T)
c.2237C>T (p.Ala746Val)
c.88C>T
n.464C>T
c.221C>T (p.Ala74Val)
c.2495C>T (p.Ala832Val)
c.1466C>T (p.Ala489Val)
c.1049C>T (p.Ala350Val)
n.2949C>T
n.3875C>T
c.2606C>T (p.Ala869Val)
c.2789C>T (p.Ala930Val)
c.2594C>T (p.Ala865Val)
c.2708C>T (p.Ala903Val)
c.2873C>T (p.Ala958Val)
c.3002C>T (p.Ala1001Val)
c.2702C>T (p.Ala901Val)
c.2666C>T (p.Ala889Val)
c.2774C>T (p.Ala925Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354158G>CCA403988581TYK2c.*1141C>G (n.*1141C>G)
c.2792C>G (p.Ala931Gly)
n.4168C>G
n.3206C>G
c.*2343C>G (n.*2343C>G)
c.*834C>G (n.*834C>G)
n.4251C>G
n.894C>G
c.*1897C>G (n.*1897C>G)
c.2237C>G (p.Ala746Gly)
c.88C>G
n.464C>G
c.221C>G (p.Ala74Gly)
c.2495C>G (p.Ala832Gly)
c.1466C>G (p.Ala489Gly)
c.1049C>G (p.Ala350Gly)
n.2949C>G
n.3875C>G
c.2606C>G (p.Ala869Gly)
c.2789C>G (p.Ala930Gly)
c.2594C>G (p.Ala865Gly)
c.2708C>G (p.Ala903Gly)
c.2873C>G (p.Ala958Gly)
c.3002C>G (p.Ala1001Gly)
c.2702C>G (p.Ala901Gly)
c.2666C>G (p.Ala889Gly)
c.2774C>G (p.Ala925Gly)
19g.10354158G=CA2322388032TYK2c.*1141C= (n.*1141C=)
c.2792C= (p.Ala931=)
n.4168C=
n.3206C=
c.*2343C= (n.*2343C=)
c.*834C= (n.*834C=)
n.4251C=
n.894C=
c.*1897C= (n.*1897C=)
c.2237C= (p.Ala746=)
c.88C=
n.464C=
c.221C= (p.Ala74=)
c.2495C= (p.Ala832=)
c.1466C= (p.Ala489=)
c.1049C= (p.Ala350=)
n.2949C=
n.3875C=
c.2606C= (p.Ala869=)
c.2789C= (p.Ala930=)
c.2594C= (p.Ala865=)
c.2708C= (p.Ala903=)
c.2873C= (p.Ala958=)
c.3002C= (p.Ala1001=)
c.2702C= (p.Ala901=)
c.2666C= (p.Ala889=)
c.2774C= (p.Ala925=)
19g.10354158G>TCA9192920TYK2c.*1141C>A (n.*1141C>A)
c.2792C>A (p.Ala931Asp)
n.4168C>A
n.3206C>A
c.*2343C>A (n.*2343C>A)
c.*834C>A (n.*834C>A)
n.4251C>A
n.894C>A
c.*1897C>A (n.*1897C>A)
c.2237C>A (p.Ala746Asp)
c.88C>A
n.464C>A
c.221C>A (p.Ala74Asp)
c.2495C>A (p.Ala832Asp)
c.1466C>A (p.Ala489Asp)
c.1049C>A (p.Ala350Asp)
n.2949C>A
n.3875C>A
c.2606C>A (p.Ala869Asp)
c.2789C>A (p.Ala930Asp)
c.2594C>A (p.Ala865Asp)
c.2708C>A (p.Ala903Asp)
c.2873C>A (p.Ala958Asp)
c.3002C>A (p.Ala1001Asp)
c.2702C>A (p.Ala901Asp)
c.2666C>A (p.Ala889Asp)
c.2774C>A (p.Ala925Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.10354159C>ACA403988586TYK2c.*1140G>T (n.*1140G>T)
c.2791G>T (p.Ala931Ser)
n.4167G>T
n.3205G>T
c.*2342G>T (n.*2342G>T)
c.*833G>T (n.*833G>T)
n.4250G>T
n.893G>T
c.*1896G>T (n.*1896G>T)
c.2236G>T (p.Ala746Ser)
c.87G>T
n.463G>T
c.220G>T (p.Ala74Ser)
c.2494G>T (p.Ala832Ser)
c.1465G>T (p.Ala489Ser)
c.1048G>T (p.Ala350Ser)
n.2948G>T
n.3874G>T
c.2605G>T (p.Ala869Ser)
c.2788G>T (p.Ala930Ser)
c.2593G>T (p.Ala865Ser)
c.2707G>T (p.Ala903Ser)
c.2872G>T (p.Ala958Ser)
c.3001G>T (p.Ala1001Ser)
c.2701G>T (p.Ala901Ser)
c.2665G>T (p.Ala889Ser)
c.2773G>T (p.Ala925Ser)
19g.10354159C>GCA403988590TYK2c.*1140G>C (n.*1140G>C)
c.2791G>C (p.Ala931Pro)
n.4167G>C
n.3205G>C
c.*2342G>C (n.*2342G>C)
c.*833G>C (n.*833G>C)
n.4250G>C
n.893G>C
c.*1896G>C (n.*1896G>C)
c.2236G>C (p.Ala746Pro)
c.87G>C
n.463G>C
c.220G>C (p.Ala74Pro)
c.2494G>C (p.Ala832Pro)
c.1465G>C (p.Ala489Pro)
c.1048G>C (p.Ala350Pro)
n.2948G>C
n.3874G>C
c.2605G>C (p.Ala869Pro)
c.2788G>C (p.Ala930Pro)
c.2593G>C (p.Ala865Pro)
c.2707G>C (p.Ala903Pro)
c.2872G>C (p.Ala958Pro)
c.3001G>C (p.Ala1001Pro)
c.2701G>C (p.Ala901Pro)
c.2665G>C (p.Ala889Pro)
c.2773G>C (p.Ala925Pro)
19g.10354159C>TCA403988593TYK2c.*1140G>A (n.*1140G>A)
c.2791G>A (p.Ala931Thr)
n.4167G>A
n.3205G>A
c.*2342G>A (n.*2342G>A)
c.*833G>A (n.*833G>A)
n.4250G>A
n.893G>A
c.*1896G>A (n.*1896G>A)
c.2236G>A (p.Ala746Thr)
c.87G>A
n.463G>A
c.220G>A (p.Ala74Thr)
c.2494G>A (p.Ala832Thr)
c.1465G>A (p.Ala489Thr)
c.1048G>A (p.Ala350Thr)
n.2948G>A
n.3874G>A
c.2605G>A (p.Ala869Thr)
c.2788G>A (p.Ala930Thr)
c.2593G>A (p.Ala865Thr)
c.2707G>A (p.Ala903Thr)
c.2872G>A (p.Ala958Thr)
c.3001G>A (p.Ala1001Thr)
c.2701G>A (p.Ala901Thr)
c.2665G>A (p.Ala889Thr)
c.2773G>A (p.Ala925Thr)
 gnomAD v4
19g.10354160T>ACA403988596TYK2c.*1139A>T (n.*1139A>T)
c.2790A>T (p.Lys930Asn)
n.4166A>T
n.3204A>T
c.*2341A>T (n.*2341A>T)
c.*832A>T (n.*832A>T)
n.4249A>T
n.892A>T
c.*1895A>T (n.*1895A>T)
c.2235A>T (p.Lys745Asn)
c.86A>T
n.462A>T
c.219A>T (p.Lys73Asn)
c.2493A>T (p.Lys831Asn)
c.1464A>T (p.Lys488Asn)
c.1047A>T (p.Lys349Asn)
n.2947A>T
n.3873A>T
c.2604A>T (p.Lys868Asn)
c.2787A>T (p.Lys929Asn)
c.2592A>T (p.Lys864Asn)
c.2706A>T (p.Lys902Asn)
c.2871A>T (p.Lys957Asn)
c.3000A>T (p.Lys1000Asn)
c.2700A>T (p.Lys900Asn)
c.2664A>T (p.Lys888Asn)
c.2772A>T (p.Lys924Asn)
19g.10354160T>CCA505373949TYK2c.*1139A>G (n.*1139A>G)
c.2790A>G (p.Lys930=)
n.4166A>G
n.3204A>G
c.*2341A>G (n.*2341A>G)
c.*832A>G (n.*832A>G)
n.4249A>G
n.892A>G
c.*1895A>G (n.*1895A>G)
c.2235A>G (p.Lys745=)
c.86A>G
n.462A>G
c.219A>G (p.Lys73=)
c.2493A>G (p.Lys831=)
c.1464A>G (p.Lys488=)
c.1047A>G (p.Lys349=)
n.2947A>G
n.3873A>G
c.2604A>G (p.Lys868=)
c.2787A>G (p.Lys929=)
c.2592A>G (p.Lys864=)
c.2706A>G (p.Lys902=)
c.2871A>G (p.Lys957=)
c.3000A>G (p.Lys1000=)
c.2700A>G (p.Lys900=)
c.2664A>G (p.Lys888=)
c.2772A>G (p.Lys924=)
19g.10354160T>GCA403988597TYK2c.*1139A>C (n.*1139A>C)
c.2790A>C (p.Lys930Asn)
n.4166A>C
n.3204A>C
c.*2341A>C (n.*2341A>C)
c.*832A>C (n.*832A>C)
n.4249A>C
n.892A>C
c.*1895A>C (n.*1895A>C)
c.2235A>C (p.Lys745Asn)
c.86A>C
n.462A>C
c.219A>C (p.Lys73Asn)
c.2493A>C (p.Lys831Asn)
c.1464A>C (p.Lys488Asn)
c.1047A>C (p.Lys349Asn)
n.2947A>C
n.3873A>C
c.2604A>C (p.Lys868Asn)
c.2787A>C (p.Lys929Asn)
c.2592A>C (p.Lys864Asn)
c.2706A>C (p.Lys902Asn)
c.2871A>C (p.Lys957Asn)
c.3000A>C (p.Lys1000Asn)
c.2700A>C (p.Lys900Asn)
c.2664A>C (p.Lys888Asn)
c.2772A>C (p.Lys924Asn)
19g.10354161T>ACA403988600TYK2c.*1138A>T (n.*1138A>T)
c.2789A>T (p.Lys930Ile)
n.4165A>T
n.3203A>T
c.*2340A>T (n.*2340A>T)
c.*831A>T (n.*831A>T)
n.4248A>T
n.891A>T
c.*1894A>T (n.*1894A>T)
c.2234A>T (p.Lys745Ile)
c.85A>T
n.461A>T
c.218A>T (p.Lys73Ile)
c.2492A>T (p.Lys831Ile)
c.1463A>T (p.Lys488Ile)
c.1046A>T (p.Lys349Ile)
n.2946A>T
n.3872A>T
c.2603A>T (p.Lys868Ile)
c.2786A>T (p.Lys929Ile)
c.2591A>T (p.Lys864Ile)
c.2705A>T (p.Lys902Ile)
c.2870A>T (p.Lys957Ile)
c.2999A>T (p.Lys1000Ile)
c.2699A>T (p.Lys900Ile)
c.2663A>T (p.Lys888Ile)
c.2771A>T (p.Lys924Ile)
19g.10354161T>CCA403988599TYK2c.*1138A>G (n.*1138A>G)
c.2789A>G (p.Lys930Arg)
n.4165A>G
n.3203A>G
c.*2340A>G (n.*2340A>G)
c.*831A>G (n.*831A>G)
n.4248A>G
n.891A>G
c.*1894A>G (n.*1894A>G)
c.2234A>G (p.Lys745Arg)
c.85A>G
n.461A>G
c.218A>G (p.Lys73Arg)
c.2492A>G (p.Lys831Arg)
c.1463A>G (p.Lys488Arg)
c.1046A>G (p.Lys349Arg)
n.2946A>G
n.3872A>G
c.2603A>G (p.Lys868Arg)
c.2786A>G (p.Lys929Arg)
c.2591A>G (p.Lys864Arg)
c.2705A>G (p.Lys902Arg)
c.2870A>G (p.Lys957Arg)
c.2999A>G (p.Lys1000Arg)
c.2699A>G (p.Lys900Arg)
c.2663A>G (p.Lys888Arg)
c.2771A>G (p.Lys924Arg)
19g.10354161T>GCA403988598TYK2c.*1138A>C (n.*1138A>C)
c.2789A>C (p.Lys930Thr)
n.4165A>C
n.3203A>C
c.*2340A>C (n.*2340A>C)
c.*831A>C (n.*831A>C)
n.4248A>C
n.891A>C
c.*1894A>C (n.*1894A>C)
c.2234A>C (p.Lys745Thr)
c.85A>C
n.461A>C
c.218A>C (p.Lys73Thr)
c.2492A>C (p.Lys831Thr)
c.1463A>C (p.Lys488Thr)
c.1046A>C (p.Lys349Thr)
n.2946A>C
n.3872A>C
c.2603A>C (p.Lys868Thr)
c.2786A>C (p.Lys929Thr)
c.2591A>C (p.Lys864Thr)
c.2705A>C (p.Lys902Thr)
c.2870A>C (p.Lys957Thr)
c.2999A>C (p.Lys1000Thr)
c.2699A>C (p.Lys900Thr)
c.2663A>C (p.Lys888Thr)
c.2771A>C (p.Lys924Thr)
19g.10354162T>ACA403988606TYK2c.*1137A>T (n.*1137A>T)
c.2788A>T (p.Lys930Ter)
n.4164A>T
n.3202A>T
c.*2339A>T (n.*2339A>T)
c.*830A>T (n.*830A>T)
n.4247A>T
n.890A>T
c.*1893A>T (n.*1893A>T)
c.2233A>T (p.Lys745Ter)
c.84A>T
n.460A>T
c.217A>T (p.Lys73Ter)
c.2491A>T (p.Lys831Ter)
c.1462A>T (p.Lys488Ter)
c.1045A>T (p.Lys349Ter)
n.2945A>T
n.3871A>T
c.2602A>T (p.Lys868Ter)
c.2785A>T (p.Lys929Ter)
c.2590A>T (p.Lys864Ter)
c.2704A>T (p.Lys902Ter)
c.2869A>T (p.Lys957Ter)
c.2998A>T (p.Lys1000Ter)
c.2698A>T (p.Lys900Ter)
c.2662A>T (p.Lys888Ter)
c.2770A>T (p.Lys924Ter)
19g.10354162T>CCA403988601TYK2c.*1137A>G (n.*1137A>G)
c.2788A>G (p.Lys930Glu)
n.4164A>G
n.3202A>G
c.*2339A>G (n.*2339A>G)
c.*830A>G (n.*830A>G)
n.4247A>G
n.890A>G
c.*1893A>G (n.*1893A>G)
c.2233A>G (p.Lys745Glu)
c.84A>G
n.460A>G
c.217A>G (p.Lys73Glu)
c.2491A>G (p.Lys831Glu)
c.1462A>G (p.Lys488Glu)
c.1045A>G (p.Lys349Glu)
n.2945A>G
n.3871A>G
c.2602A>G (p.Lys868Glu)
c.2785A>G (p.Lys929Glu)
c.2590A>G (p.Lys864Glu)
c.2704A>G (p.Lys902Glu)
c.2869A>G (p.Lys957Glu)
c.2998A>G (p.Lys1000Glu)
c.2698A>G (p.Lys900Glu)
c.2662A>G (p.Lys888Glu)
c.2770A>G (p.Lys924Glu)
19g.10354162T>GCA403988608TYK2c.*1137A>C (n.*1137A>C)
c.2788A>C (p.Lys930Gln)
n.4164A>C
n.3202A>C
c.*2339A>C (n.*2339A>C)
c.*830A>C (n.*830A>C)
n.4247A>C
n.890A>C
c.*1893A>C (n.*1893A>C)
c.2233A>C (p.Lys745Gln)
c.84A>C
n.460A>C
c.217A>C (p.Lys73Gln)
c.2491A>C (p.Lys831Gln)
c.1462A>C (p.Lys488Gln)
c.1045A>C (p.Lys349Gln)
n.2945A>C
n.3871A>C
c.2602A>C (p.Lys868Gln)
c.2785A>C (p.Lys929Gln)
c.2590A>C (p.Lys864Gln)
c.2704A>C (p.Lys902Gln)
c.2869A>C (p.Lys957Gln)
c.2998A>C (p.Lys1000Gln)
c.2698A>C (p.Lys900Gln)
c.2662A>C (p.Lys888Gln)
c.2770A>C (p.Lys924Gln)
19g.10354162T=CA2322388033TYK2c.*1137A= (n.*1137A=)
c.2788A= (p.Lys930=)
n.4164A=
n.3202A=
c.*2339A= (n.*2339A=)
c.*830A= (n.*830A=)
n.4247A=
n.890A=
c.*1893A= (n.*1893A=)
c.2233A= (p.Lys745=)
c.84A=
n.460A=
c.217A= (p.Lys73=)
c.2491A= (p.Lys831=)
c.1462A= (p.Lys488=)
c.1045A= (p.Lys349=)
n.2945A=
n.3871A=
c.2602A= (p.Lys868=)
c.2785A= (p.Lys929=)
c.2590A= (p.Lys864=)
c.2704A= (p.Lys902=)
c.2869A= (p.Lys957=)
c.2998A= (p.Lys1000=)
c.2698A= (p.Lys900=)
c.2662A= (p.Lys888=)
c.2770A= (p.Lys924=)
19g.10354163C>ACA505373969TYK2c.*1136G>T (n.*1136G>T)
c.2787G>T (p.Val929=)
n.4163G>T
n.3201G>T
c.*2338G>T (n.*2338G>T)
c.*829G>T (n.*829G>T)
n.4246G>T
n.889G>T
c.*1892G>T (n.*1892G>T)
c.2232G>T (p.Val744=)
c.83G>T
n.459G>T
c.216G>T (p.Val72=)
c.2490G>T (p.Val830=)
c.1461G>T (p.Val487=)
c.1044G>T (p.Val348=)
n.2944G>T
n.3870G>T
c.2601G>T (p.Val867=)
c.2784G>T (p.Val928=)
c.2589G>T (p.Val863=)
c.2703G>T (p.Val901=)
c.2868G>T (p.Val956=)
c.2997G>T (p.Val999=)
c.2697G>T (p.Val899=)
c.2661G>T (p.Val887=)
c.2769G>T (p.Val923=)
19g.10354163C>GCA505373970TYK2c.*1136G>C (n.*1136G>C)
c.2787G>C (p.Val929=)
n.4163G>C
n.3201G>C
c.*2338G>C (n.*2338G>C)
c.*829G>C (n.*829G>C)
n.4246G>C
n.889G>C
c.*1892G>C (n.*1892G>C)
c.2232G>C (p.Val744=)
c.83G>C
n.459G>C
c.216G>C (p.Val72=)
c.2490G>C (p.Val830=)
c.1461G>C (p.Val487=)
c.1044G>C (p.Val348=)
n.2944G>C
n.3870G>C
c.2601G>C (p.Val867=)
c.2784G>C (p.Val928=)
c.2589G>C (p.Val863=)
c.2703G>C (p.Val901=)
c.2868G>C (p.Val956=)
c.2997G>C (p.Val999=)
c.2697G>C (p.Val899=)
c.2661G>C (p.Val887=)
c.2769G>C (p.Val923=)
 gnomAD v4
19g.10354163C>TCA505373968TYK2c.*1136G>A (n.*1136G>A)
c.2787G>A (p.Val929=)
n.4163G>A
n.3201G>A
c.*2338G>A (n.*2338G>A)
c.*829G>A (n.*829G>A)
n.4246G>A
n.889G>A
c.*1892G>A (n.*1892G>A)
c.2232G>A (p.Val744=)
c.83G>A
n.459G>A
c.216G>A (p.Val72=)
c.2490G>A (p.Val830=)
c.1461G>A (p.Val487=)
c.1044G>A (p.Val348=)
n.2944G>A
n.3870G>A
c.2601G>A (p.Val867=)
c.2784G>A (p.Val928=)
c.2589G>A (p.Val863=)
c.2703G>A (p.Val901=)
c.2868G>A (p.Val956=)
c.2997G>A (p.Val999=)
c.2697G>A (p.Val899=)
c.2661G>A (p.Val887=)
c.2769G>A (p.Val923=)
19g.10354163dupCA305194721TYK2c.*1136dup (n.*1136dup)
c.2787dup (p.Lys930GlufsTer20)
n.4163dup
n.3201dup
c.*2338dup (n.*2338dup)
c.*829dup (n.*829dup)
n.4246dup
n.889dup
c.*1892dup (n.*1892dup)
c.2232dup (p.Lys745GlufsTer20)
c.83dup
n.459dup
c.216dup (p.Lys73GlufsTer20)
c.2490dup (p.Lys831GlufsTer20)
c.1461dup (p.Lys488GlufsTer20)
c.1044dup (p.Lys349GlufsTer20)
n.2944dup
n.3870dup
c.2601dup (p.Lys868GlufsTer20)
c.2784dup (p.Lys929GlufsTer20)
c.2589dup (p.Lys864GlufsTer20)
c.2703dup (p.Lys902GlufsTer20)
c.2868dup (p.Lys957GlufsTer20)
c.2997dup (p.Lys1000GlufsTer20)
c.2697dup (p.Lys900GlufsTer20)
c.2661dup (p.Lys888GlufsTer20)
c.2769dup (p.Lys924GlufsTer20)
 dbSNP
19g.10354164A=CA2322388034TYK2c.*1135T= (n.*1135T=)
c.2786T= (p.Val929=)
n.4162T=
n.3200T=
c.*2337T= (n.*2337T=)
c.*828T= (n.*828T=)
n.4245T=
n.888T=
c.*1891T= (n.*1891T=)
c.2231T= (p.Val744=)
c.82T=
n.458T=
c.215T= (p.Val72=)
c.2489T= (p.Val830=)
c.1460T= (p.Val487=)
c.1043T= (p.Val348=)
n.2943T=
n.3869T=
c.2600T= (p.Val867=)
c.2783T= (p.Val928=)
c.2588T= (p.Val863=)
c.2702T= (p.Val901=)
c.2867T= (p.Val956=)
c.2996T= (p.Val999=)
c.2696T= (p.Val899=)
c.2660T= (p.Val887=)
c.2768T= (p.Val923=)
19g.10354164A>CCA403988612TYK2c.*1135T>G (n.*1135T>G)
c.2786T>G (p.Val929Gly)
n.4162T>G
n.3200T>G
c.*2337T>G (n.*2337T>G)
c.*828T>G (n.*828T>G)
n.4245T>G
n.888T>G
c.*1891T>G (n.*1891T>G)
c.2231T>G (p.Val744Gly)
c.82T>G
n.458T>G
c.215T>G (p.Val72Gly)
c.2489T>G (p.Val830Gly)
c.1460T>G (p.Val487Gly)
c.1043T>G (p.Val348Gly)
n.2943T>G
n.3869T>G
c.2600T>G (p.Val867Gly)
c.2783T>G (p.Val928Gly)
c.2588T>G (p.Val863Gly)
c.2702T>G (p.Val901Gly)
c.2867T>G (p.Val956Gly)
c.2996T>G (p.Val999Gly)
c.2696T>G (p.Val899Gly)
c.2660T>G (p.Val887Gly)
c.2768T>G (p.Val923Gly)
 dbSNP
19g.10354164A>GCA403988613TYK2c.*1135T>C (n.*1135T>C)
c.2786T>C (p.Val929Ala)
n.4162T>C
n.3200T>C
c.*2337T>C (n.*2337T>C)
c.*828T>C (n.*828T>C)
n.4245T>C
n.888T>C
c.*1891T>C (n.*1891T>C)
c.2231T>C (p.Val744Ala)
c.82T>C
n.458T>C
c.215T>C (p.Val72Ala)
c.2489T>C (p.Val830Ala)
c.1460T>C (p.Val487Ala)
c.1043T>C (p.Val348Ala)
n.2943T>C
n.3869T>C
c.2600T>C (p.Val867Ala)
c.2783T>C (p.Val928Ala)
c.2588T>C (p.Val863Ala)
c.2702T>C (p.Val901Ala)
c.2867T>C (p.Val956Ala)
c.2996T>C (p.Val999Ala)
c.2696T>C (p.Val899Ala)
c.2660T>C (p.Val887Ala)
c.2768T>C (p.Val923Ala)
 COSMIC
19g.10354164A>TCA403988614TYK2c.*1135T>A (n.*1135T>A)
c.2786T>A (p.Val929Glu)
n.4162T>A
n.3200T>A
c.*2337T>A (n.*2337T>A)
c.*828T>A (n.*828T>A)
n.4245T>A
n.888T>A
c.*1891T>A (n.*1891T>A)
c.2231T>A (p.Val744Glu)
c.82T>A
n.458T>A
c.215T>A (p.Val72Glu)
c.2489T>A (p.Val830Glu)
c.1460T>A (p.Val487Glu)
c.1043T>A (p.Val348Glu)
n.2943T>A
n.3869T>A
c.2600T>A (p.Val867Glu)
c.2783T>A (p.Val928Glu)
c.2588T>A (p.Val863Glu)
c.2702T>A (p.Val901Glu)
c.2867T>A (p.Val956Glu)
c.2996T>A (p.Val999Glu)
c.2696T>A (p.Val899Glu)
c.2660T>A (p.Val887Glu)
c.2768T>A (p.Val923Glu)
19g.10354165C>ACA403988616TYK2c.*1134G>T (n.*1134G>T)
c.2785G>T (p.Val929Leu)
n.4161G>T
n.3199G>T
c.*2336G>T (n.*2336G>T)
c.*827G>T (n.*827G>T)
n.4244G>T
n.887G>T
c.*1890G>T (n.*1890G>T)
c.2230G>T (p.Val744Leu)
c.81G>T
n.457G>T
c.214G>T (p.Val72Leu)
c.2488G>T (p.Val830Leu)
c.1459G>T (p.Val487Leu)
c.1042G>T (p.Val348Leu)
n.2942G>T
n.3868G>T
c.2599G>T (p.Val867Leu)
c.2782G>T (p.Val928Leu)
c.2587G>T (p.Val863Leu)
c.2701G>T (p.Val901Leu)
c.2866G>T (p.Val956Leu)
c.2995G>T (p.Val999Leu)
c.2695G>T (p.Val899Leu)
c.2659G>T (p.Val887Leu)
c.2767G>T (p.Val923Leu)
19g.10354165C>GCA403988618TYK2c.*1134G>C (n.*1134G>C)
c.2785G>C (p.Val929Leu)
n.4161G>C
n.3199G>C
c.*2336G>C (n.*2336G>C)
c.*827G>C (n.*827G>C)
n.4244G>C
n.887G>C
c.*1890G>C (n.*1890G>C)
c.2230G>C (p.Val744Leu)
c.81G>C
n.457G>C
c.214G>C (p.Val72Leu)
c.2488G>C (p.Val830Leu)
c.1459G>C (p.Val487Leu)
c.1042G>C (p.Val348Leu)
n.2942G>C
n.3868G>C
c.2599G>C (p.Val867Leu)
c.2782G>C (p.Val928Leu)
c.2587G>C (p.Val863Leu)
c.2701G>C (p.Val901Leu)
c.2866G>C (p.Val956Leu)
c.2995G>C (p.Val999Leu)
c.2695G>C (p.Val899Leu)
c.2659G>C (p.Val887Leu)
c.2767G>C (p.Val923Leu)
19g.10354165C>TCA403988621TYK2c.*1134G>A (n.*1134G>A)
c.2785G>A (p.Val929Met)
n.4161G>A
n.3199G>A
c.*2336G>A (n.*2336G>A)
c.*827G>A (n.*827G>A)
n.4244G>A
n.887G>A
c.*1890G>A (n.*1890G>A)
c.2230G>A (p.Val744Met)
c.81G>A
n.457G>A
c.214G>A (p.Val72Met)
c.2488G>A (p.Val830Met)
c.1459G>A (p.Val487Met)
c.1042G>A (p.Val348Met)
n.2942G>A
n.3868G>A
c.2599G>A (p.Val867Met)
c.2782G>A (p.Val928Met)
c.2587G>A (p.Val863Met)
c.2701G>A (p.Val901Met)
c.2866G>A (p.Val956Met)
c.2995G>A (p.Val999Met)
c.2695G>A (p.Val899Met)
c.2659G>A (p.Val887Met)
c.2767G>A (p.Val923Met)
 gnomAD v4 COSMIC
19g.10354166C>ACA505373983TYK2c.*1133G>T (n.*1133G>T)
c.2784G>T (p.Ala928=)
n.4160G>T
n.3198G>T
c.*2335G>T (n.*2335G>T)
c.*826G>T (n.*826G>T)
n.4243G>T
n.886G>T
c.*1889G>T (n.*1889G>T)
c.2229G>T (p.Ala743=)
c.80G>T
n.456G>T
c.213G>T (p.Ala71=)
c.2487G>T (p.Ala829=)
c.1458G>T (p.Ala486=)
c.1041G>T (p.Ala347=)
n.2941G>T
n.3867G>T
c.2598G>T (p.Ala866=)
c.2781G>T (p.Ala927=)
c.2586G>T (p.Ala862=)
c.2700G>T (p.Ala900=)
c.2865G>T (p.Ala955=)
c.2994G>T (p.Ala998=)
c.2694G>T (p.Ala898=)
c.2658G>T (p.Ala886=)
c.2766G>T (p.Ala922=)
19g.10354166C>GCA505373978TYK2c.*1133G>C (n.*1133G>C)
c.2784G>C (p.Ala928=)
n.4160G>C
n.3198G>C
c.*2335G>C (n.*2335G>C)
c.*826G>C (n.*826G>C)
n.4243G>C
n.886G>C
c.*1889G>C (n.*1889G>C)
c.2229G>C (p.Ala743=)
c.80G>C
n.456G>C
c.213G>C (p.Ala71=)
c.2487G>C (p.Ala829=)
c.1458G>C (p.Ala486=)
c.1041G>C (p.Ala347=)
n.2941G>C
n.3867G>C
c.2598G>C (p.Ala866=)
c.2781G>C (p.Ala927=)
c.2586G>C (p.Ala862=)
c.2700G>C (p.Ala900=)
c.2865G>C (p.Ala955=)
c.2994G>C (p.Ala998=)
c.2694G>C (p.Ala898=)
c.2658G>C (p.Ala886=)
c.2766G>C (p.Ala922=)
19g.10354166C>TCA505373981TYK2c.*1133G>A (n.*1133G>A)
c.2784G>A (p.Ala928=)
n.4160G>A
n.3198G>A
c.*2335G>A (n.*2335G>A)
c.*826G>A (n.*826G>A)
n.4243G>A
n.886G>A
c.*1889G>A (n.*1889G>A)
c.2229G>A (p.Ala743=)
c.80G>A
n.456G>A
c.213G>A (p.Ala71=)
c.2487G>A (p.Ala829=)
c.1458G>A (p.Ala486=)
c.1041G>A (p.Ala347=)
n.2941G>A
n.3867G>A
c.2598G>A (p.Ala866=)
c.2781G>A (p.Ala927=)
c.2586G>A (p.Ala862=)
c.2700G>A (p.Ala900=)
c.2865G>A (p.Ala955=)
c.2994G>A (p.Ala998=)
c.2694G>A (p.Ala898=)
c.2658G>A (p.Ala886=)
c.2766G>A (p.Ala922=)
 gnomAD v4
19g.10354167G>ACA9192922TYK2c.*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
19g.10354167G>CCA403988626TYK2c.*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)
19g.10354167G=CA2322388035TYK2c.*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=)
19g.10354167G>TCA403988633TYK2c.*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)
19g.10354168C>ACA403988636TYK2c.*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)
19g.10354168C>GCA403988638TYK2c.*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)
19g.10354168C>TCA403988646TYK2c.*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)
19g.10354169C>ACA505373990TYK2c.*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=)
19g.10354169C>GCA505373994TYK2c.*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=)
19g.10354169C>TCA505373992TYK2c.*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=)

Number of alleles fetched