Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.414824C>ACA372760370DOCK8c.3273C>A (p.Ser1091Arg)
n.94C>A
n.2361C>A
c.3573C>A (p.Ser1191Arg)
c.1974C>A (p.Ser658Arg)
c.3369C>A (p.Ser1123Arg)
n.5528C>A
c.3435C>A (p.Ser1145Arg)
c.1809C>A (p.Ser603Arg)
9g.414824C=CA1826889014DOCK8c.3273C= (p.Ser1091=)
n.94C=
n.2361C=
c.3573C= (p.Ser1191=)
c.1974C= (p.Ser658=)
c.3369C= (p.Ser1123=)
n.5528C=
c.3435C= (p.Ser1145=)
c.1809C= (p.Ser603=)
9g.414824C>GCA372760372DOCK8c.3273C>G (p.Ser1091Arg)
n.94C>G
n.2361C>G
c.3573C>G (p.Ser1191Arg)
c.1974C>G (p.Ser658Arg)
c.3369C>G (p.Ser1123Arg)
n.5528C>G
c.3435C>G (p.Ser1145Arg)
c.1809C>G (p.Ser603Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.414824C>TCA175866DOCK8c.3273C>T (p.Ser1091=)
n.94C>T
n.2361C>T
c.3573C>T (p.Ser1191=)
c.1974C>T (p.Ser658=)
c.3369C>T (p.Ser1123=)
n.5528C>T
c.3435C>T (p.Ser1145=)
c.1809C>T (p.Ser603=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414825C>ACA372760377DOCK8c.3274C>A (p.Leu1092Met)
n.95C>A
n.2362C>A
c.3574C>A (p.Leu1192Met)
c.1975C>A (p.Leu659Met)
c.3370C>A (p.Leu1124Met)
n.5529C>A
c.3436C>A (p.Leu1146Met)
c.1810C>A (p.Leu604Met)
9g.414825C>GCA372760380DOCK8c.3274C>G (p.Leu1092Val)
n.95C>G
n.2362C>G
c.3574C>G (p.Leu1192Val)
c.1975C>G (p.Leu659Val)
c.3370C>G (p.Leu1124Val)
n.5529C>G
c.3436C>G (p.Leu1146Val)
c.1810C>G (p.Leu604Val)
9g.414825C>TCA463691039DOCK8c.3274C>T (p.Leu1092=)
n.95C>T
n.2362C>T
c.3574C>T (p.Leu1192=)
c.1975C>T (p.Leu659=)
c.3370C>T (p.Leu1124=)
n.5529C>T
c.3436C>T (p.Leu1146=)
c.1810C>T (p.Leu604=)
gnomAD v4
9g.414826T>ACA372760384DOCK8c.3275T>A (p.Leu1092Gln)
n.96T>A
n.2363T>A
c.3575T>A (p.Leu1192Gln)
c.1976T>A (p.Leu659Gln)
c.3371T>A (p.Leu1124Gln)
n.5530T>A
c.3437T>A (p.Leu1146Gln)
c.1811T>A (p.Leu604Gln)
9g.414826T>CCA372760389DOCK8c.3275T>C (p.Leu1092Pro)
n.96T>C
n.2363T>C
c.3575T>C (p.Leu1192Pro)
c.1976T>C (p.Leu659Pro)
c.3371T>C (p.Leu1124Pro)
n.5530T>C
c.3437T>C (p.Leu1146Pro)
c.1811T>C (p.Leu604Pro)
9g.414826T>GCA372760386DOCK8c.3275T>G (p.Leu1092Arg)
n.96T>G
n.2363T>G
c.3575T>G (p.Leu1192Arg)
c.1976T>G (p.Leu659Arg)
c.3371T>G (p.Leu1124Arg)
n.5530T>G
c.3437T>G (p.Leu1146Arg)
c.1811T>G (p.Leu604Arg)
9g.414827G>ACA463691040DOCK8c.3276G>A (p.Leu1092=)
n.97G>A
n.2364G>A
c.3576G>A (p.Leu1192=)
c.1977G>A (p.Leu659=)
c.3372G>A (p.Leu1124=)
n.5531G>A
c.3438G>A (p.Leu1146=)
c.1812G>A (p.Leu604=)
gnomAD v4
9g.414827G>CCA463691041DOCK8c.3276G>C (p.Leu1092=)
n.97G>C
n.2364G>C
c.3576G>C (p.Leu1192=)
c.1977G>C (p.Leu659=)
c.3372G>C (p.Leu1124=)
n.5531G>C
c.3438G>C (p.Leu1146=)
c.1812G>C (p.Leu604=)
9g.414827G>TCA463691042DOCK8c.3276G>T (p.Leu1092=)
n.97G>T
n.2364G>T
c.3576G>T (p.Leu1192=)
c.1977G>T (p.Leu659=)
c.3372G>T (p.Leu1124=)
n.5531G>T
c.3438G>T (p.Leu1146=)
c.1812G>T (p.Leu604=)
9g.414828C>ACA372760393DOCK8c.3277C>A (p.Leu1093Ile)
n.98C>A
n.2365C>A
c.3577C>A (p.Leu1193Ile)
c.1978C>A (p.Leu660Ile)
c.3373C>A (p.Leu1125Ile)
n.5532C>A
c.3439C>A (p.Leu1147Ile)
c.1813C>A (p.Leu605Ile)
9g.414828C>GCA372760397DOCK8c.3277C>G (p.Leu1093Val)
n.98C>G
n.2365C>G
c.3577C>G (p.Leu1193Val)
c.1978C>G (p.Leu660Val)
c.3373C>G (p.Leu1125Val)
n.5532C>G
c.3439C>G (p.Leu1147Val)
c.1813C>G (p.Leu605Val)
9g.414828C>TCA463691043DOCK8c.3277C>T (p.Leu1093=)
n.98C>T
n.2365C>T
c.3577C>T (p.Leu1193=)
c.1978C>T (p.Leu660=)
c.3373C>T (p.Leu1125=)
n.5532C>T
c.3439C>T (p.Leu1147=)
c.1813C>T (p.Leu605=)
9g.414829T>ACA372760401DOCK8c.3278T>A (p.Leu1093Gln)
n.99T>A
n.2366T>A
c.3578T>A (p.Leu1193Gln)
c.1979T>A (p.Leu660Gln)
c.3374T>A (p.Leu1125Gln)
n.5533T>A
c.3440T>A (p.Leu1147Gln)
c.1814T>A (p.Leu605Gln)
9g.414829T>CCA372760404DOCK8c.3278T>C (p.Leu1093Pro)
n.99T>C
n.2366T>C
c.3578T>C (p.Leu1193Pro)
c.1979T>C (p.Leu660Pro)
c.3374T>C (p.Leu1125Pro)
n.5533T>C
c.3440T>C (p.Leu1147Pro)
c.1814T>C (p.Leu605Pro)
9g.414829T>GCA372760406DOCK8c.3278T>G (p.Leu1093Arg)
n.99T>G
n.2366T>G
c.3578T>G (p.Leu1193Arg)
c.1979T>G (p.Leu660Arg)
c.3374T>G (p.Leu1125Arg)
n.5533T>G
c.3440T>G (p.Leu1147Arg)
c.1814T>G (p.Leu605Arg)
9g.414830A=CA1826889019DOCK8c.3279A= (p.Leu1093=)
n.100A=
n.2367A=
c.3579A= (p.Leu1193=)
c.1980A= (p.Leu660=)
c.3375A= (p.Leu1125=)
n.5534A=
c.3441A= (p.Leu1147=)
c.1815A= (p.Leu605=)
9g.414830A>CCA463691044DOCK8c.3279A>C (p.Leu1093=)
n.100A>C
n.2367A>C
c.3579A>C (p.Leu1193=)
c.1980A>C (p.Leu660=)
c.3375A>C (p.Leu1125=)
n.5534A>C
c.3441A>C (p.Leu1147=)
c.1815A>C (p.Leu605=)
9g.414830A>GCA463691045DOCK8c.3279A>G (p.Leu1093=)
n.100A>G
n.2367A>G
c.3579A>G (p.Leu1193=)
c.1980A>G (p.Leu660=)
c.3375A>G (p.Leu1125=)
n.5534A>G
c.3441A>G (p.Leu1147=)
c.1815A>G (p.Leu605=)
dbSNP gnomAD v3 gnomAD v4
9g.414830A>TCA463691046DOCK8c.3279A>T (p.Leu1093=)
n.100A>T
n.2367A>T
c.3579A>T (p.Leu1193=)
c.1980A>T (p.Leu660=)
c.3375A>T (p.Leu1125=)
n.5534A>T
c.3441A>T (p.Leu1147=)
c.1815A>T (p.Leu605=)
9g.414831A>CCA372760413DOCK8c.3280A>C (p.Ser1094Arg)
n.101A>C
n.2368A>C
c.3580A>C (p.Ser1194Arg)
c.1981A>C (p.Ser661Arg)
c.3376A>C (p.Ser1126Arg)
n.5535A>C
c.3442A>C (p.Ser1148Arg)
c.1816A>C (p.Ser606Arg)
9g.414831A>GCA372760415DOCK8c.3280A>G (p.Ser1094Gly)
n.101A>G
n.2368A>G
c.3580A>G (p.Ser1194Gly)
c.1981A>G (p.Ser661Gly)
c.3376A>G (p.Ser1126Gly)
n.5535A>G
c.3442A>G (p.Ser1148Gly)
c.1816A>G (p.Ser606Gly)
9g.414831A>TCA372760417DOCK8c.3280A>T (p.Ser1094Cys)
n.101A>T
n.2368A>T
c.3580A>T (p.Ser1194Cys)
c.1981A>T (p.Ser661Cys)
c.3376A>T (p.Ser1126Cys)
n.5535A>T
c.3442A>T (p.Ser1148Cys)
c.1816A>T (p.Ser606Cys)
9g.414832G>ACA372760420DOCK8c.3281G>A (p.Ser1094Asn)
n.102G>A
n.2369G>A
c.3581G>A (p.Ser1194Asn)
c.1982G>A (p.Ser661Asn)
c.3377G>A (p.Ser1126Asn)
n.5536G>A
c.3443G>A (p.Ser1148Asn)
c.1817G>A (p.Ser606Asn)
dbSNP gnomAD v4
9g.414832G>CCA4958751DOCK8c.3281G>C (p.Ser1094Thr)
n.102G>C
n.2369G>C
c.3581G>C (p.Ser1194Thr)
c.1982G>C (p.Ser661Thr)
c.3377G>C (p.Ser1126Thr)
n.5536G>C
c.3443G>C (p.Ser1148Thr)
c.1817G>C (p.Ser606Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414832G=CA1826889020DOCK8c.3281G= (p.Ser1094=)
n.102G=
n.2369G=
c.3581G= (p.Ser1194=)
c.1982G= (p.Ser661=)
c.3377G= (p.Ser1126=)
n.5536G=
c.3443G= (p.Ser1148=)
c.1817G= (p.Ser606=)
9g.414832G>TCA372760425DOCK8c.3281G>T (p.Ser1094Ile)
n.102G>T
n.2369G>T
c.3581G>T (p.Ser1194Ile)
c.1982G>T (p.Ser661Ile)
c.3377G>T (p.Ser1126Ile)
n.5536G>T
c.3443G>T (p.Ser1148Ile)
c.1817G>T (p.Ser606Ile)
9g.414833T>ACA372760427DOCK8c.3282T>A (p.Ser1094Arg)
n.103T>A
n.2370T>A
c.3582T>A (p.Ser1194Arg)
c.1983T>A (p.Ser661Arg)
c.3378T>A (p.Ser1126Arg)
n.5537T>A
c.3444T>A (p.Ser1148Arg)
c.1818T>A (p.Ser606Arg)
9g.414833T>CCA463691047DOCK8c.3282T>C (p.Ser1094=)
n.103T>C
n.2370T>C
c.3582T>C (p.Ser1194=)
c.1983T>C (p.Ser661=)
c.3378T>C (p.Ser1126=)
n.5537T>C
c.3444T>C (p.Ser1148=)
c.1818T>C (p.Ser606=)
9g.414833T>GCA372760429DOCK8c.3282T>G (p.Ser1094Arg)
n.103T>G
n.2370T>G
c.3582T>G (p.Ser1194Arg)
c.1983T>G (p.Ser661Arg)
c.3378T>G (p.Ser1126Arg)
n.5537T>G
c.3444T>G (p.Ser1148Arg)
c.1818T>G (p.Ser606Arg)
9g.414834T>ACA372760439DOCK8c.3283T>A (p.Ser1095Thr)
n.104T>A
n.2371T>A
c.3583T>A (p.Ser1195Thr)
c.1984T>A (p.Ser662Thr)
c.3379T>A (p.Ser1127Thr)
n.5538T>A
c.3445T>A (p.Ser1149Thr)
c.1819T>A (p.Ser607Thr)
9g.414834T>CCA372760434DOCK8c.3283T>C (p.Ser1095Pro)
n.104T>C
n.2371T>C
c.3583T>C (p.Ser1195Pro)
c.1984T>C (p.Ser662Pro)
c.3379T>C (p.Ser1127Pro)
n.5538T>C
c.3445T>C (p.Ser1149Pro)
c.1819T>C (p.Ser607Pro)
9g.414834T>GCA372760437DOCK8c.3283T>G (p.Ser1095Ala)
n.104T>G
n.2371T>G
c.3583T>G (p.Ser1195Ala)
c.1984T>G (p.Ser662Ala)
c.3379T>G (p.Ser1127Ala)
n.5538T>G
c.3445T>G (p.Ser1149Ala)
c.1819T>G (p.Ser607Ala)
9g.414835C>ACA372760443DOCK8c.3284C>A (p.Ser1095Tyr)
n.105C>A
n.2372C>A
c.3584C>A (p.Ser1195Tyr)
c.1985C>A (p.Ser662Tyr)
c.3380C>A (p.Ser1127Tyr)
n.5539C>A
c.3446C>A (p.Ser1149Tyr)
c.1820C>A (p.Ser607Tyr)
9g.414835C>GCA372760445DOCK8c.3284C>G (p.Ser1095Cys)
n.105C>G
n.2372C>G
c.3584C>G (p.Ser1195Cys)
c.1985C>G (p.Ser662Cys)
c.3380C>G (p.Ser1127Cys)
n.5539C>G
c.3446C>G (p.Ser1149Cys)
c.1820C>G (p.Ser607Cys)
gnomAD v4
9g.414835C>TCA372760449DOCK8c.3284C>T (p.Ser1095Phe)
n.105C>T
n.2372C>T
c.3584C>T (p.Ser1195Phe)
c.1985C>T (p.Ser662Phe)
c.3380C>T (p.Ser1127Phe)
n.5539C>T
c.3446C>T (p.Ser1149Phe)
c.1820C>T (p.Ser607Phe)
gnomAD v4
9g.414836T>ACA463691050DOCK8c.3285T>A (p.Ser1095=)
n.106T>A
n.2373T>A
c.3585T>A (p.Ser1195=)
c.1986T>A (p.Ser662=)
c.3381T>A (p.Ser1127=)
n.5540T>A
c.3447T>A (p.Ser1149=)
c.1821T>A (p.Ser607=)
9g.414836T>CCA463691049DOCK8c.3285T>C (p.Ser1095=)
n.106T>C
n.2373T>C
c.3585T>C (p.Ser1195=)
c.1986T>C (p.Ser662=)
c.3381T>C (p.Ser1127=)
n.5540T>C
c.3447T>C (p.Ser1149=)
c.1821T>C (p.Ser607=)
9g.414836T>GCA463691048DOCK8c.3285T>G (p.Ser1095=)
n.106T>G
n.2373T>G
c.3585T>G (p.Ser1195=)
c.1986T>G (p.Ser662=)
c.3381T>G (p.Ser1127=)
n.5540T>G
c.3447T>G (p.Ser1149=)
c.1821T>G (p.Ser607=)
9g.414837C>ACA372760451DOCK8c.3286C>A (p.His1096Asn)
n.107C>A
n.2374C>A
c.3586C>A (p.His1196Asn)
c.1987C>A (p.His663Asn)
c.3382C>A (p.His1128Asn)
n.5541C>A
c.3448C>A (p.His1150Asn)
c.1822C>A (p.His608Asn)
9g.414837C=CA1826889021DOCK8c.3286C= (p.His1096=)
n.107C=
n.2374C=
c.3586C= (p.His1196=)
c.1987C= (p.His663=)
c.3382C= (p.His1128=)
n.5541C=
c.3448C= (p.His1150=)
c.1822C= (p.His608=)
9g.414837C>GCA372760454DOCK8c.3286C>G (p.His1096Asp)
n.107C>G
n.2374C>G
c.3586C>G (p.His1196Asp)
c.1987C>G (p.His663Asp)
c.3382C>G (p.His1128Asp)
n.5541C>G
c.3448C>G (p.His1150Asp)
c.1822C>G (p.His608Asp)
9g.414837C>TCA372760456DOCK8c.3286C>T (p.His1096Tyr)
n.107C>T
n.2374C>T
c.3586C>T (p.His1196Tyr)
c.1987C>T (p.His663Tyr)
c.3382C>T (p.His1128Tyr)
n.5541C>T
c.3448C>T (p.His1150Tyr)
c.1822C>T (p.His608Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414838A>CCA372760459DOCK8c.3287A>C (p.His1096Pro)
n.108A>C
n.2375A>C
c.3587A>C (p.His1196Pro)
c.1988A>C (p.His663Pro)
c.3383A>C (p.His1128Pro)
n.5542A>C
c.3449A>C (p.His1150Pro)
c.1823A>C (p.His608Pro)
gnomAD v4
9g.414838A>GCA372760462DOCK8c.3287A>G (p.His1096Arg)
n.108A>G
n.2375A>G
c.3587A>G (p.His1196Arg)
c.1988A>G (p.His663Arg)
c.3383A>G (p.His1128Arg)
n.5542A>G
c.3449A>G (p.His1150Arg)
c.1823A>G (p.His608Arg)
9g.414838A>TCA372760466DOCK8c.3287A>T (p.His1096Leu)
n.108A>T
n.2375A>T
c.3587A>T (p.His1196Leu)
c.1988A>T (p.His663Leu)
c.3383A>T (p.His1128Leu)
n.5542A>T
c.3449A>T (p.His1150Leu)
c.1823A>T (p.His608Leu)
9g.414839C>ACA187777321DOCK8c.3288C>A (p.His1096Gln)
n.109C>A
n.2376C>A
c.3588C>A (p.His1196Gln)
c.1989C>A (p.His663Gln)
c.3384C>A (p.His1128Gln)
n.5543C>A
c.3450C>A (p.His1150Gln)
c.1824C>A (p.His608Gln)
dbSNP
9g.414839C=CA1826889023DOCK8c.3288C= (p.His1096=)
n.109C=
n.2376C=
c.3588C= (p.His1196=)
c.1989C= (p.His663=)
c.3384C= (p.His1128=)
n.5543C=
c.3450C= (p.His1150=)
c.1824C= (p.His608=)
9g.414839C>GCA372760472DOCK8c.3288C>G (p.His1096Gln)
n.109C>G
n.2376C>G
c.3588C>G (p.His1196Gln)
c.1989C>G (p.His663Gln)
c.3384C>G (p.His1128Gln)
n.5543C>G
c.3450C>G (p.His1150Gln)
c.1824C>G (p.His608Gln)
9g.414839C>TCA4958752DOCK8c.3288C>T (p.His1096=)
n.109C>T
n.2376C>T
c.3588C>T (p.His1196=)
c.1989C>T (p.His663=)
c.3384C>T (p.His1128=)
n.5543C>T
c.3450C>T (p.His1150=)
c.1824C>T (p.His608=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414840G>ACA372760477DOCK8c.3289G>A (p.Asp1097Asn)
n.110G>A
n.2377G>A
c.3589G>A (p.Asp1197Asn)
c.1990G>A (p.Asp664Asn)
c.3385G>A (p.Asp1129Asn)
n.5544G>A
c.3451G>A (p.Asp1151Asn)
c.1825G>A (p.Asp609Asn)
gnomAD v4 COSMIC
9g.414840G>CCA372760480DOCK8c.3289G>C (p.Asp1097His)
n.110G>C
n.2377G>C
c.3589G>C (p.Asp1197His)
c.1990G>C (p.Asp664His)
c.3385G>C (p.Asp1129His)
n.5544G>C
c.3451G>C (p.Asp1151His)
c.1825G>C (p.Asp609His)
gnomAD v4
9g.414840G=CA1826889026DOCK8c.3289G= (p.Asp1097=)
n.110G=
n.2377G=
c.3589G= (p.Asp1197=)
c.1990G= (p.Asp664=)
c.3385G= (p.Asp1129=)
n.5544G=
c.3451G= (p.Asp1151=)
c.1825G= (p.Asp609=)
9g.414840G>TCA187777336DOCK8c.3289G>T (p.Asp1097Tyr)
n.110G>T
n.2377G>T
c.3589G>T (p.Asp1197Tyr)
c.1990G>T (p.Asp664Tyr)
c.3385G>T (p.Asp1129Tyr)
n.5544G>T
c.3451G>T (p.Asp1151Tyr)
c.1825G>T (p.Asp609Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414841A=CA1826889029DOCK8c.3290A= (p.Asp1097=)
n.111A=
n.2378A=
c.3590A= (p.Asp1197=)
c.1991A= (p.Asp664=)
c.3386A= (p.Asp1129=)
n.5545A=
c.3452A= (p.Asp1151=)
c.1826A= (p.Asp609=)
9g.414841A>CCA372760489DOCK8c.3290A>C (p.Asp1097Ala)
n.111A>C
n.2378A>C
c.3590A>C (p.Asp1197Ala)
c.1991A>C (p.Asp664Ala)
c.3386A>C (p.Asp1129Ala)
n.5545A>C
c.3452A>C (p.Asp1151Ala)
c.1826A>C (p.Asp609Ala)
9g.414841A>GCA4958753DOCK8c.3290A>G (p.Asp1097Gly)
n.111A>G
n.2378A>G
c.3590A>G (p.Asp1197Gly)
c.1991A>G (p.Asp664Gly)
c.3386A>G (p.Asp1129Gly)
n.5545A>G
c.3452A>G (p.Asp1151Gly)
c.1826A>G (p.Asp609Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.414841A>TCA372760485DOCK8c.3290A>T (p.Asp1097Val)
n.111A>T
n.2378A>T
c.3590A>T (p.Asp1197Val)
c.1991A>T (p.Asp664Val)
c.3386A>T (p.Asp1129Val)
n.5545A>T
c.3452A>T (p.Asp1151Val)
c.1826A>T (p.Asp609Val)
9g.414842C>ACA372760493DOCK8c.3291C>A (p.Asp1097Glu)
n.112C>A
n.2379C>A
c.3591C>A (p.Asp1197Glu)
c.1992C>A (p.Asp664Glu)
c.3387C>A (p.Asp1129Glu)
n.5546C>A
c.3453C>A (p.Asp1151Glu)
c.1827C>A (p.Asp609Glu)
9g.414842C>GCA372760494DOCK8c.3291C>G (p.Asp1097Glu)
n.112C>G
n.2379C>G
c.3591C>G (p.Asp1197Glu)
c.1992C>G (p.Asp664Glu)
c.3387C>G (p.Asp1129Glu)
n.5546C>G
c.3453C>G (p.Asp1151Glu)
c.1827C>G (p.Asp609Glu)
9g.414842C>TCA463691052DOCK8c.3291C>T (p.Asp1097=)
n.112C>T
n.2379C>T
c.3591C>T (p.Asp1197=)
c.1992C>T (p.Asp664=)
c.3387C>T (p.Asp1129=)
n.5546C>T
c.3453C>T (p.Asp1151=)
c.1827C>T (p.Asp609=)
9g.414843C>ACA372760496DOCK8c.3292C>A (p.Leu1098Met)
n.113C>A
n.2380C>A
c.3592C>A (p.Leu1198Met)
c.1993C>A (p.Leu665Met)
c.3388C>A (p.Leu1130Met)
n.5547C>A
c.3454C>A (p.Leu1152Met)
c.1828C>A (p.Leu610Met)
9g.414843C=CA1826889031DOCK8c.3292C= (p.Leu1098=)
n.113C=
n.2380C=
c.3592C= (p.Leu1198=)
c.1993C= (p.Leu665=)
c.3388C= (p.Leu1130=)
n.5547C=
c.3454C= (p.Leu1152=)
c.1828C= (p.Leu610=)
9g.414843C>GCA372760498DOCK8c.3292C>G (p.Leu1098Val)
n.113C>G
n.2380C>G
c.3592C>G (p.Leu1198Val)
c.1993C>G (p.Leu665Val)
c.3388C>G (p.Leu1130Val)
n.5547C>G
c.3454C>G (p.Leu1152Val)
c.1828C>G (p.Leu610Val)
gnomAD v4
9g.414843C>TCA4958754DOCK8c.3292C>T (p.Leu1098=)
n.113C>T
n.2380C>T
c.3592C>T (p.Leu1198=)
c.1993C>T (p.Leu665=)
c.3388C>T (p.Leu1130=)
n.5547C>T
c.3454C>T (p.Leu1152=)
c.1828C>T (p.Leu610=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.414844T>ACA187777418DOCK8c.3293T>A (p.Leu1098Gln)
n.114T>A
n.2381T>A
c.3593T>A (p.Leu1198Gln)
c.1994T>A (p.Leu665Gln)
c.3389T>A (p.Leu1130Gln)
n.5548T>A
c.3455T>A (p.Leu1152Gln)
c.1829T>A (p.Leu610Gln)
dbSNP
9g.414844T>CCA372760504DOCK8c.3293T>C (p.Leu1098Pro)
n.114T>C
n.2381T>C
c.3593T>C (p.Leu1198Pro)
c.1994T>C (p.Leu665Pro)
c.3389T>C (p.Leu1130Pro)
n.5548T>C
c.3455T>C (p.Leu1152Pro)
c.1829T>C (p.Leu610Pro)
9g.414844T>GCA372760505DOCK8c.3293T>G (p.Leu1098Arg)
n.114T>G
n.2381T>G
c.3593T>G (p.Leu1198Arg)
c.1994T>G (p.Leu665Arg)
c.3389T>G (p.Leu1130Arg)
n.5548T>G
c.3455T>G (p.Leu1152Arg)
c.1829T>G (p.Leu610Arg)
gnomAD v4
9g.414844T=CA1826889035DOCK8c.3293T= (p.Leu1098=)
n.114T=
n.2381T=
c.3593T= (p.Leu1198=)
c.1994T= (p.Leu665=)
c.3389T= (p.Leu1130=)
n.5548T=
c.3455T= (p.Leu1152=)
c.1829T= (p.Leu610=)
9g.414845G>ACA463691053DOCK8c.3294G>A (p.Leu1098=)
n.115G>A
n.2382G>A
c.3594G>A (p.Leu1198=)
c.1995G>A (p.Leu665=)
c.3390G>A (p.Leu1130=)
n.5549G>A
c.3456G>A (p.Leu1152=)
c.1830G>A (p.Leu610=)
9g.414845G>CCA463691054DOCK8c.3294G>C (p.Leu1098=)
n.115G>C
n.2382G>C
c.3594G>C (p.Leu1198=)
c.1995G>C (p.Leu665=)
c.3390G>C (p.Leu1130=)
n.5549G>C
c.3456G>C (p.Leu1152=)
c.1830G>C (p.Leu610=)
9g.414845G>TCA463691055DOCK8c.3294G>T (p.Leu1098=)
n.115G>T
n.2382G>T
c.3594G>T (p.Leu1198=)
c.1995G>T (p.Leu665=)
c.3390G>T (p.Leu1130=)
n.5549G>T
c.3456G>T (p.Leu1152=)
c.1830G>T (p.Leu610=)
9g.414846G>ACA372760506DOCK8c.3295G>A (p.Asp1099Asn)
n.116G>A
n.2383G>A
c.3595G>A (p.Asp1199Asn)
c.1996G>A (p.Asp666Asn)
c.3391G>A (p.Asp1131Asn)
n.5550G>A
c.3457G>A (p.Asp1153Asn)
c.1831G>A (p.Asp611Asn)
ClinVar dbSNP
9g.414846G>CCA372760507DOCK8c.3295G>C (p.Asp1099His)
n.116G>C
n.2383G>C
c.3595G>C (p.Asp1199His)
c.1996G>C (p.Asp666His)
c.3391G>C (p.Asp1131His)
n.5550G>C
c.3457G>C (p.Asp1153His)
c.1831G>C (p.Asp611His)
gnomAD v4
9g.414846G=CA1826889039DOCK8c.3295G= (p.Asp1099=)
n.116G=
n.2383G=
c.3595G= (p.Asp1199=)
c.1996G= (p.Asp666=)
c.3391G= (p.Asp1131=)
n.5550G=
c.3457G= (p.Asp1153=)
c.1831G= (p.Asp611=)
9g.414846G>TCA372760509DOCK8c.3295G>T (p.Asp1099Tyr)
n.116G>T
n.2383G>T
c.3595G>T (p.Asp1199Tyr)
c.1996G>T (p.Asp666Tyr)
c.3391G>T (p.Asp1131Tyr)
n.5550G>T
c.3457G>T (p.Asp1153Tyr)
c.1831G>T (p.Asp611Tyr)
9g.414847A>CCA372760514DOCK8c.3296A>C (p.Asp1099Ala)
n.117A>C
n.2384A>C
c.3596A>C (p.Asp1199Ala)
c.1997A>C (p.Asp666Ala)
c.3392A>C (p.Asp1131Ala)
n.5551A>C
c.3458A>C (p.Asp1153Ala)
c.1832A>C (p.Asp611Ala)
9g.414847A>GCA372760510DOCK8c.3296A>G (p.Asp1099Gly)
n.117A>G
n.2384A>G
c.3596A>G (p.Asp1199Gly)
c.1997A>G (p.Asp666Gly)
c.3392A>G (p.Asp1131Gly)
n.5551A>G
c.3458A>G (p.Asp1153Gly)
c.1832A>G (p.Asp611Gly)
9g.414847A>TCA372760512DOCK8c.3296A>T (p.Asp1099Val)
n.117A>T
n.2384A>T
c.3596A>T (p.Asp1199Val)
c.1997A>T (p.Asp666Val)
c.3392A>T (p.Asp1131Val)
n.5551A>T
c.3458A>T (p.Asp1153Val)
c.1832A>T (p.Asp611Val)
9g.414847_414848delinsACCA1826889043DOCK8c.3296_3297delinsAC (p.Asp1099=)
n.117_118delinsAC
n.2384_2385delinsAC
c.3596_3597delinsAC (p.Asp1199=)
c.1997_1998delinsAC (p.Asp666=)
c.3392_3393delinsAC (p.Asp1131=)
n.5551_5552delinsAC
c.3458_3459delinsAC (p.Asp1153=)
c.1832_1833delinsAC (p.Asp611=)
9g.414848C>ACA372760517DOCK8c.3297C>A (p.Asp1099Glu)
n.118C>A
n.2385C>A
c.3597C>A (p.Asp1199Glu)
c.1998C>A (p.Asp666Glu)
c.3393C>A (p.Asp1131Glu)
n.5552C>A
c.3459C>A (p.Asp1153Glu)
c.1833C>A (p.Asp611Glu)
gnomAD v4
9g.414848C=CA1826889046DOCK8c.3297C= (p.Asp1099=)
n.118C=
n.2385C=
c.3597C= (p.Asp1199=)
c.1998C= (p.Asp666=)
c.3393C= (p.Asp1131=)
n.5552C=
c.3459C= (p.Asp1153=)
c.1833C= (p.Asp611=)
9g.414848C>GCA372760518DOCK8c.3297C>G (p.Asp1099Glu)
n.118C>G
n.2385C>G
c.3597C>G (p.Asp1199Glu)
c.1998C>G (p.Asp666Glu)
c.3393C>G (p.Asp1131Glu)
n.5552C>G
c.3459C>G (p.Asp1153Glu)
c.1833C>G (p.Asp611Glu)
9g.414848C>TCA4958755DOCK8c.3297C>T (p.Asp1099=)
n.118C>T
n.2385C>T
c.3597C>T (p.Asp1199=)
c.1998C>T (p.Asp666=)
c.3393C>T (p.Asp1131=)
n.5552C>T
c.3459C>T (p.Asp1153=)
c.1833C>T (p.Asp611=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414850delCA864138584DOCK8c.3299del (p.Pro1100HisfsTer8)
n.120del
n.2387del
c.3599del (p.Pro1200HisfsTer8)
c.2000del (p.Pro667HisfsTer8)
c.3395del (p.Pro1132HisfsTer8)
n.5554del
c.3461del (p.Pro1154HisfsTer8)
c.1835del (p.Pro612HisfsTer8)
dbSNP gnomAD v4
9g.414849C>ACA372760520DOCK8c.3298C>A (p.Pro1100Thr)
n.119C>A
n.2386C>A
c.3598C>A (p.Pro1200Thr)
c.1999C>A (p.Pro667Thr)
c.3394C>A (p.Pro1132Thr)
n.5553C>A
c.3460C>A (p.Pro1154Thr)
c.1834C>A (p.Pro612Thr)
gnomAD v4
9g.414849C>GCA372760522DOCK8c.3298C>G (p.Pro1100Ala)
n.119C>G
n.2386C>G
c.3598C>G (p.Pro1200Ala)
c.1999C>G (p.Pro667Ala)
c.3394C>G (p.Pro1132Ala)
n.5553C>G
c.3460C>G (p.Pro1154Ala)
c.1834C>G (p.Pro612Ala)
9g.414849C>TCA372760525DOCK8c.3298C>T (p.Pro1100Ser)
n.119C>T
n.2386C>T
c.3598C>T (p.Pro1200Ser)
c.1999C>T (p.Pro667Ser)
c.3394C>T (p.Pro1132Ser)
n.5553C>T
c.3460C>T (p.Pro1154Ser)
c.1834C>T (p.Pro612Ser)
9g.414850C>ACA372760529DOCK8c.3299C>A (p.Pro1100Gln)
n.120C>A
n.2387C>A
c.3599C>A (p.Pro1200Gln)
c.2000C>A (p.Pro667Gln)
c.3395C>A (p.Pro1132Gln)
n.5554C>A
c.3461C>A (p.Pro1154Gln)
c.1835C>A (p.Pro612Gln)
9g.414850C>GCA372760531DOCK8c.3299C>G (p.Pro1100Arg)
n.120C>G
n.2387C>G
c.3599C>G (p.Pro1200Arg)
c.2000C>G (p.Pro667Arg)
c.3395C>G (p.Pro1132Arg)
n.5554C>G
c.3461C>G (p.Pro1154Arg)
c.1835C>G (p.Pro612Arg)
gnomAD v4
9g.414850C>TCA372760537DOCK8c.3299C>T (p.Pro1100Leu)
n.120C>T
n.2387C>T
c.3599C>T (p.Pro1200Leu)
c.2000C>T (p.Pro667Leu)
c.3395C>T (p.Pro1132Leu)
n.5554C>T
c.3461C>T (p.Pro1154Leu)
c.1835C>T (p.Pro612Leu)
9g.414851A>CCA463691056DOCK8c.3300A>C (p.Pro1100=)
n.121A>C
n.2388A>C
c.3600A>C (p.Pro1200=)
c.2001A>C (p.Pro667=)
c.3396A>C (p.Pro1132=)
n.5555A>C
c.3462A>C (p.Pro1154=)
c.1836A>C (p.Pro612=)
9g.414851A>GCA463691057DOCK8c.3300A>G (p.Pro1100=)
n.121A>G
n.2388A>G
c.3600A>G (p.Pro1200=)
c.2001A>G (p.Pro667=)
c.3396A>G (p.Pro1132=)
n.5555A>G
c.3462A>G (p.Pro1154=)
c.1836A>G (p.Pro612=)
9g.414851A>TCA463691058DOCK8c.3300A>T (p.Pro1100=)
n.121A>T
n.2388A>T
c.3600A>T (p.Pro1200=)
c.2001A>T (p.Pro667=)
c.3396A>T (p.Pro1132=)
n.5555A>T
c.3462A>T (p.Pro1154=)
c.1836A>T (p.Pro612=)
9g.414852C>ACA4958757DOCK8c.3301C>A (p.Arg1101Ser)
n.122C>A
n.2389C>A
c.3601C>A (p.Arg1201Ser)
c.2002C>A (p.Arg668Ser)
c.3397C>A (p.Arg1133Ser)
n.5556C>A
c.3463C>A (p.Arg1155Ser)
c.1837C>A (p.Arg613Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.414852C=CA1826889050DOCK8c.3301C= (p.Arg1101=)
n.122C=
n.2389C=
c.3601C= (p.Arg1201=)
c.2002C= (p.Arg668=)
c.3397C= (p.Arg1133=)
n.5556C=
c.3463C= (p.Arg1155=)
c.1837C= (p.Arg613=)
9g.414852C>GCA372760543DOCK8c.3301C>G (p.Arg1101Gly)
n.122C>G
n.2389C>G
c.3601C>G (p.Arg1201Gly)
c.2002C>G (p.Arg668Gly)
c.3397C>G (p.Arg1133Gly)
n.5556C>G
c.3463C>G (p.Arg1155Gly)
c.1837C>G (p.Arg613Gly)
9g.414852C>TCA4958756DOCK8c.3301C>T (p.Arg1101Cys)
n.122C>T
n.2389C>T
c.3601C>T (p.Arg1201Cys)
c.2002C>T (p.Arg668Cys)
c.3397C>T (p.Arg1133Cys)
n.5556C>T
c.3463C>T (p.Arg1155Cys)
c.1837C>T (p.Arg613Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414853G>ACA187777439DOCK8c.3302G>A (p.Arg1101His)
n.123G>A
n.2390G>A
c.3602G>A (p.Arg1201His)
c.2003G>A (p.Arg668His)
c.3398G>A (p.Arg1133His)
n.5557G>A
c.3464G>A (p.Arg1155His)
c.1838G>A (p.Arg613His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414853G>CCA372760554DOCK8c.3302G>C (p.Arg1101Pro)
n.123G>C
n.2390G>C
c.3602G>C (p.Arg1201Pro)
c.2003G>C (p.Arg668Pro)
c.3398G>C (p.Arg1133Pro)
n.5557G>C
c.3464G>C (p.Arg1155Pro)
c.1838G>C (p.Arg613Pro)
9g.414853G=CA1826889054DOCK8c.3302G= (p.Arg1101=)
n.123G=
n.2390G=
c.3602G= (p.Arg1201=)
c.2003G= (p.Arg668=)
c.3398G= (p.Arg1133=)
n.5557G=
c.3464G= (p.Arg1155=)
c.1838G= (p.Arg613=)
9g.414853G>TCA372760552DOCK8c.3302G>T (p.Arg1101Leu)
n.123G>T
n.2390G>T
c.3602G>T (p.Arg1201Leu)
c.2003G>T (p.Arg668Leu)
c.3398G>T (p.Arg1133Leu)
n.5557G>T
c.3464G>T (p.Arg1155Leu)
c.1838G>T (p.Arg613Leu)
9g.414854C>ACA463691059DOCK8c.3303C>A (p.Arg1101=)
n.124C>A
n.2391C>A
c.3603C>A (p.Arg1201=)
c.2004C>A (p.Arg668=)
c.3399C>A (p.Arg1133=)
n.5558C>A
c.3465C>A (p.Arg1155=)
c.1839C>A (p.Arg613=)
9g.414854C=CA1826889056DOCK8c.3303C= (p.Arg1101=)
n.124C=
n.2391C=
c.3603C= (p.Arg1201=)
c.2004C= (p.Arg668=)
c.3399C= (p.Arg1133=)
n.5558C=
c.3465C= (p.Arg1155=)
c.1839C= (p.Arg613=)
9g.414854C>GCA4958758DOCK8c.3303C>G (p.Arg1101=)
n.124C>G
n.2391C>G
c.3603C>G (p.Arg1201=)
c.2004C>G (p.Arg668=)
c.3399C>G (p.Arg1133=)
n.5558C>G
c.3465C>G (p.Arg1155=)
c.1839C>G (p.Arg613=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414854C>TCA463691060DOCK8c.3303C>T (p.Arg1101=)
n.124C>T
n.2391C>T
c.3603C>T (p.Arg1201=)
c.2004C>T (p.Arg668=)
c.3399C>T (p.Arg1133=)
n.5558C>T
c.3465C>T (p.Arg1155=)
c.1839C>T (p.Arg613=)
dbSNP gnomAD v2 gnomAD v4
9g.414855T>ACA372760561DOCK8c.3304T>A (p.Cys1102Ser)
n.125T>A
n.2392T>A
c.3604T>A (p.Cys1202Ser)
c.2005T>A (p.Cys669Ser)
c.3400T>A (p.Cys1134Ser)
n.5559T>A
c.3466T>A (p.Cys1156Ser)
c.1840T>A (p.Cys614Ser)
9g.414855T>CCA372760565DOCK8c.3304T>C (p.Cys1102Arg)
n.125T>C
n.2392T>C
c.3604T>C (p.Cys1202Arg)
c.2005T>C (p.Cys669Arg)
c.3400T>C (p.Cys1134Arg)
n.5559T>C
c.3466T>C (p.Cys1156Arg)
c.1840T>C (p.Cys614Arg)
gnomAD v3 gnomAD v4
9g.414855T>GCA372760564DOCK8c.3304T>G (p.Cys1102Gly)
n.125T>G
n.2392T>G
c.3604T>G (p.Cys1202Gly)
c.2005T>G (p.Cys669Gly)
c.3400T>G (p.Cys1134Gly)
n.5559T>G
c.3466T>G (p.Cys1156Gly)
c.1840T>G (p.Cys614Gly)
9g.414856G>ACA372760569DOCK8c.3305G>A (p.Cys1102Tyr)
n.126G>A
n.2393G>A
c.3605G>A (p.Cys1202Tyr)
c.2006G>A (p.Cys669Tyr)
c.3401G>A (p.Cys1134Tyr)
n.5560G>A
c.3467G>A (p.Cys1156Tyr)
c.1841G>A (p.Cys614Tyr)
dbSNP gnomAD v2 gnomAD v4
9g.414856G>CCA372760571DOCK8c.3305G>C (p.Cys1102Ser)
n.126G>C
n.2393G>C
c.3605G>C (p.Cys1202Ser)
c.2006G>C (p.Cys669Ser)
c.3401G>C (p.Cys1134Ser)
n.5560G>C
c.3467G>C (p.Cys1156Ser)
c.1841G>C (p.Cys614Ser)
9g.414856G=CA1826889057DOCK8c.3305G= (p.Cys1102=)
n.126G=
n.2393G=
c.3605G= (p.Cys1202=)
c.2006G= (p.Cys669=)
c.3401G= (p.Cys1134=)
n.5560G=
c.3467G= (p.Cys1156=)
c.1841G= (p.Cys614=)
9g.414856G>TCA372760574DOCK8c.3305G>T (p.Cys1102Phe)
n.126G>T
n.2393G>T
c.3605G>T (p.Cys1202Phe)
c.2006G>T (p.Cys669Phe)
c.3401G>T (p.Cys1134Phe)
n.5560G>T
c.3467G>T (p.Cys1156Phe)
c.1841G>T (p.Cys614Phe)
9g.414857T>ACA4958760DOCK8c.3306T>A (p.Cys1102Ter)
n.127T>A
n.2394T>A
c.3606T>A (p.Cys1202Ter)
c.2007T>A (p.Cys669Ter)
c.3402T>A (p.Cys1134Ter)
n.5561T>A
c.3468T>A (p.Cys1156Ter)
c.1842T>A (p.Cys614Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.414857T>CCA4958759DOCK8c.3306T>C (p.Cys1102=)
n.127T>C
n.2394T>C
c.3606T>C (p.Cys1202=)
c.2007T>C (p.Cys669=)
c.3402T>C (p.Cys1134=)
n.5561T>C
c.3468T>C (p.Cys1156=)
c.1842T>C (p.Cys614=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414857T>GCA372760580DOCK8c.3306T>G (p.Cys1102Trp)
n.127T>G
n.2394T>G
c.3606T>G (p.Cys1202Trp)
c.2007T>G (p.Cys669Trp)
c.3402T>G (p.Cys1134Trp)
n.5561T>G
c.3468T>G (p.Cys1156Trp)
c.1842T>G (p.Cys614Trp)
9g.414857T=CA1826889060DOCK8c.3306T= (p.Cys1102=)
n.127T=
n.2394T=
c.3606T= (p.Cys1202=)
c.2007T= (p.Cys669=)
c.3402T= (p.Cys1134=)
n.5561T=
c.3468T= (p.Cys1156=)
c.1842T= (p.Cys614=)
9g.414858G>ACA187777465DOCK8c.3307G>A (p.Val1103Ile)
n.128G>A
n.2395G>A
c.3607G>A (p.Val1203Ile)
c.2008G>A (p.Val670Ile)
c.3403G>A (p.Val1135Ile)
n.5562G>A
c.3469G>A (p.Val1157Ile)
c.1843G>A (p.Val615Ile)
ClinVar dbSNP gnomAD v4
9g.414858G>CCA372760585DOCK8c.3307G>C (p.Val1103Leu)
n.128G>C
n.2395G>C
c.3607G>C (p.Val1203Leu)
c.2008G>C (p.Val670Leu)
c.3403G>C (p.Val1135Leu)
n.5562G>C
c.3469G>C (p.Val1157Leu)
c.1843G>C (p.Val615Leu)
9g.414858G=CA1826889063DOCK8c.3307G= (p.Val1103=)
n.128G=
n.2395G=
c.3607G= (p.Val1203=)
c.2008G= (p.Val670=)
c.3403G= (p.Val1135=)
n.5562G=
c.3469G= (p.Val1157=)
c.1843G= (p.Val615=)
9g.414858G>TCA372760588DOCK8c.3307G>T (p.Val1103Phe)
n.128G>T
n.2395G>T
c.3607G>T (p.Val1203Phe)
c.2008G>T (p.Val670Phe)
c.3403G>T (p.Val1135Phe)
n.5562G>T
c.3469G>T (p.Val1157Phe)
c.1843G>T (p.Val615Phe)
9g.414859T>ACA372760592DOCK8c.3308T>A (p.Val1103Asp)
n.129T>A
n.2396T>A
c.3608T>A (p.Val1203Asp)
c.2009T>A (p.Val670Asp)
c.3404T>A (p.Val1135Asp)
n.5563T>A
c.3470T>A (p.Val1157Asp)
c.1844T>A (p.Val615Asp)
9g.414859T>CCA372760594DOCK8c.3308T>C (p.Val1103Ala)
n.129T>C
n.2396T>C
c.3608T>C (p.Val1203Ala)
c.2009T>C (p.Val670Ala)
c.3404T>C (p.Val1135Ala)
n.5563T>C
c.3470T>C (p.Val1157Ala)
c.1844T>C (p.Val615Ala)
9g.414859T>GCA372760596DOCK8c.3308T>G (p.Val1103Gly)
n.129T>G
n.2396T>G
c.3608T>G (p.Val1203Gly)
c.2009T>G (p.Val670Gly)
c.3404T>G (p.Val1135Gly)
n.5563T>G
c.3470T>G (p.Val1157Gly)
c.1844T>G (p.Val615Gly)
9g.414860C>ACA463691061DOCK8c.3309C>A (p.Val1103=)
n.130C>A
n.2397C>A
c.3609C>A (p.Val1203=)
c.2010C>A (p.Val670=)
c.3405C>A (p.Val1135=)
n.5564C>A
c.3471C>A (p.Val1157=)
c.1845C>A (p.Val615=)
9g.414860C=CA1826889066DOCK8c.3309C= (p.Val1103=)
n.130C=
n.2397C=
c.3609C= (p.Val1203=)
c.2010C= (p.Val670=)
c.3405C= (p.Val1135=)
n.5564C=
c.3471C= (p.Val1157=)
c.1845C= (p.Val615=)
9g.414860C>GCA187777474DOCK8c.3309C>G (p.Val1103=)
n.130C>G
n.2397C>G
c.3609C>G (p.Val1203=)
c.2010C>G (p.Val670=)
c.3405C>G (p.Val1135=)
n.5564C>G
c.3471C>G (p.Val1157=)
c.1845C>G (p.Val615=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414860C>TCA463691062DOCK8c.3309C>T (p.Val1103=)
n.130C>T
n.2397C>T
c.3609C>T (p.Val1203=)
c.2010C>T (p.Val670=)
c.3405C>T (p.Val1135=)
n.5564C>T
c.3471C>T (p.Val1157=)
c.1845C>T (p.Val615=)
9g.414861A=CA1826889069DOCK8c.3310A= (p.Lys1104=)
n.131A=
n.2398A=
c.3610A= (p.Lys1204=)
c.2011A= (p.Lys671=)
c.3406A= (p.Lys1136=)
n.5565A=
c.3472A= (p.Lys1158=)
c.1846A= (p.Lys616=)
9g.414861A>CCA372760602DOCK8c.3310A>C (p.Lys1104Gln)
n.131A>C
n.2398A>C
c.3610A>C (p.Lys1204Gln)
c.2011A>C (p.Lys671Gln)
c.3406A>C (p.Lys1136Gln)
n.5565A>C
c.3472A>C (p.Lys1158Gln)
c.1846A>C (p.Lys616Gln)
9g.414861A>GCA187777494DOCK8c.3310A>G (p.Lys1104Glu)
n.131A>G
n.2398A>G
c.3610A>G (p.Lys1204Glu)
c.2011A>G (p.Lys671Glu)
c.3406A>G (p.Lys1136Glu)
n.5565A>G
c.3472A>G (p.Lys1158Glu)
c.1846A>G (p.Lys616Glu)
ClinVar dbSNP gnomAD v4
9g.414861A>TCA372760607DOCK8c.3310A>T (p.Lys1104Ter)
n.131A>T
n.2398A>T
c.3610A>T (p.Lys1204Ter)
c.2011A>T (p.Lys671Ter)
c.3406A>T (p.Lys1136Ter)
n.5565A>T
c.3472A>T (p.Lys1158Ter)
c.1846A>T (p.Lys616Ter)
9g.414862A>CCA372760612DOCK8c.3311A>C (p.Lys1104Thr)
n.132A>C
n.2399A>C
c.3611A>C (p.Lys1204Thr)
c.2012A>C (p.Lys671Thr)
c.3407A>C (p.Lys1136Thr)
n.5566A>C
c.3473A>C (p.Lys1158Thr)
c.1847A>C (p.Lys616Thr)
9g.414862A>GCA372760615DOCK8c.3311A>G (p.Lys1104Arg)
n.132A>G
n.2399A>G
c.3611A>G (p.Lys1204Arg)
c.2012A>G (p.Lys671Arg)
c.3407A>G (p.Lys1136Arg)
n.5566A>G
c.3473A>G (p.Lys1158Arg)
c.1847A>G (p.Lys616Arg)
9g.414862A>TCA372760617DOCK8c.3311A>T (p.Lys1104Ile)
n.132A>T
n.2399A>T
c.3611A>T (p.Lys1204Ile)
c.2012A>T (p.Lys671Ile)
c.3407A>T (p.Lys1136Ile)
n.5566A>T
c.3473A>T (p.Lys1158Ile)
c.1847A>T (p.Lys616Ile)
9g.414863A=CA1826889074DOCK8c.3312A= (p.Lys1104=)
n.133A=
n.2400A=
c.3612A= (p.Lys1204=)
c.2013A= (p.Lys671=)
c.3408A= (p.Lys1136=)
n.5567A=
c.3474A= (p.Lys1158=)
c.1848A= (p.Lys616=)
9g.414863A>CCA4958762DOCK8c.3312A>C (p.Lys1104Asn)
n.133A>C
n.2400A>C
c.3612A>C (p.Lys1204Asn)
c.2013A>C (p.Lys671Asn)
c.3408A>C (p.Lys1136Asn)
n.5567A>C
c.3474A>C (p.Lys1158Asn)
c.1848A>C (p.Lys616Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414863A>GCA463691063DOCK8c.3312A>G (p.Lys1104=)
n.133A>G
n.2400A>G
c.3612A>G (p.Lys1204=)
c.2013A>G (p.Lys671=)
c.3408A>G (p.Lys1136=)
n.5567A>G
c.3474A>G (p.Lys1158=)
c.1848A>G (p.Lys616=)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.414863A>TCA4958761DOCK8c.3312A>T (p.Lys1104Asn)
n.133A>T
n.2400A>T
c.3612A>T (p.Lys1204Asn)
c.2013A>T (p.Lys671Asn)
c.3408A>T (p.Lys1136Asn)
n.5567A>T
c.3474A>T (p.Lys1158Asn)
c.1848A>T (p.Lys616Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414864C>ACA372760625DOCK8c.3313C>A (p.Pro1105Thr)
n.134C>A
n.2401C>A
c.3613C>A (p.Pro1205Thr)
c.2014C>A (p.Pro672Thr)
c.3409C>A (p.Pro1137Thr)
n.5568C>A
c.3475C>A (p.Pro1159Thr)
c.1849C>A (p.Pro617Thr)
9g.414864C>GCA372760627DOCK8c.3313C>G (p.Pro1105Ala)
n.134C>G
n.2401C>G
c.3613C>G (p.Pro1205Ala)
c.2014C>G (p.Pro672Ala)
c.3409C>G (p.Pro1137Ala)
n.5568C>G
c.3475C>G (p.Pro1159Ala)
c.1849C>G (p.Pro617Ala)
gnomAD v4
9g.414864C>TCA372760630DOCK8c.3313C>T (p.Pro1105Ser)
n.134C>T
n.2401C>T
c.3613C>T (p.Pro1205Ser)
c.2014C>T (p.Pro672Ser)
c.3409C>T (p.Pro1137Ser)
n.5568C>T
c.3475C>T (p.Pro1159Ser)
c.1849C>T (p.Pro617Ser)
gnomAD v4
9g.414865C>ACA372760633DOCK8c.3314C>A (p.Pro1105Gln)
n.135C>A
n.2402C>A
c.3614C>A (p.Pro1205Gln)
c.2015C>A (p.Pro672Gln)
c.3410C>A (p.Pro1137Gln)
n.5569C>A
c.3476C>A (p.Pro1159Gln)
c.1850C>A (p.Pro617Gln)
9g.414865C=CA1826889077DOCK8c.3314C= (p.Pro1105=)
n.135C=
n.2402C=
c.3614C= (p.Pro1205=)
c.2015C= (p.Pro672=)
c.3410C= (p.Pro1137=)
n.5569C=
c.3476C= (p.Pro1159=)
c.1850C= (p.Pro617=)
9g.414865C>GCA372760636DOCK8c.3314C>G (p.Pro1105Arg)
n.135C>G
n.2402C>G
c.3614C>G (p.Pro1205Arg)
c.2015C>G (p.Pro672Arg)
c.3410C>G (p.Pro1137Arg)
n.5569C>G
c.3476C>G (p.Pro1159Arg)
c.1850C>G (p.Pro617Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.414865C>TCA372760638DOCK8c.3314C>T (p.Pro1105Leu)
n.135C>T
n.2402C>T
c.3614C>T (p.Pro1205Leu)
c.2015C>T (p.Pro672Leu)
c.3410C>T (p.Pro1137Leu)
n.5569C>T
c.3476C>T (p.Pro1159Leu)
c.1850C>T (p.Pro617Leu)
9g.414866A>CCA463691064DOCK8c.3315A>C (p.Pro1105=)
n.136A>C
n.2403A>C
c.3615A>C (p.Pro1205=)
c.2016A>C (p.Pro672=)
c.3411A>C (p.Pro1137=)
n.5570A>C
c.3477A>C (p.Pro1159=)
c.1851A>C (p.Pro617=)
9g.414866A>GCA463691065DOCK8c.3315A>G (p.Pro1105=)
n.136A>G
n.2403A>G
c.3615A>G (p.Pro1205=)
c.2016A>G (p.Pro672=)
c.3411A>G (p.Pro1137=)
n.5570A>G
c.3477A>G (p.Pro1159=)
c.1851A>G (p.Pro617=)
gnomAD v4
9g.414866A>TCA463691066DOCK8c.3315A>T (p.Pro1105=)
n.136A>T
n.2403A>T
c.3615A>T (p.Pro1205=)
c.2016A>T (p.Pro672=)
c.3411A>T (p.Pro1137=)
n.5570A>T
c.3477A>T (p.Pro1159=)
c.1851A>T (p.Pro617=)
gnomAD v4
9g.414867G>ACA372760644DOCK8c.3316G>A (p.Glu1106Lys)
n.137G>A
n.2404G>A
c.3616G>A (p.Glu1206Lys)
c.2017G>A (p.Glu673Lys)
c.3412G>A (p.Glu1138Lys)
n.5571G>A
c.3478G>A (p.Glu1160Lys)
c.1852G>A (p.Glu618Lys)
9g.414867G>CCA4958763DOCK8c.3316G>C (p.Glu1106Gln)
n.137G>C
n.2404G>C
c.3616G>C (p.Glu1206Gln)
c.2017G>C (p.Glu673Gln)
c.3412G>C (p.Glu1138Gln)
n.5571G>C
c.3478G>C (p.Glu1160Gln)
c.1852G>C (p.Glu618Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.414867G=CA1826889081DOCK8c.3316G= (p.Glu1106=)
n.137G=
n.2404G=
c.3616G= (p.Glu1206=)
c.2017G= (p.Glu673=)
c.3412G= (p.Glu1138=)
n.5571G=
c.3478G= (p.Glu1160=)
c.1852G= (p.Glu618=)
9g.414867G>TCA372760641DOCK8c.3316G>T (p.Glu1106Ter)
n.137G>T
n.2404G>T
c.3616G>T (p.Glu1206Ter)
c.2017G>T (p.Glu673Ter)
c.3412G>T (p.Glu1138Ter)
n.5571G>T
c.3478G>T (p.Glu1160Ter)
c.1852G>T (p.Glu618Ter)
9g.414868A>CCA372760648DOCK8c.3317A>C (p.Glu1106Ala)
n.138A>C
n.2405A>C
c.3617A>C (p.Glu1206Ala)
c.2018A>C (p.Glu673Ala)
c.3413A>C (p.Glu1138Ala)
n.5572A>C
c.3479A>C (p.Glu1160Ala)
c.1853A>C (p.Glu618Ala)
9g.414868A>GCA372760658DOCK8c.3317A>G (p.Glu1106Gly)
n.138A>G
n.2405A>G
c.3617A>G (p.Glu1206Gly)
c.2018A>G (p.Glu673Gly)
c.3413A>G (p.Glu1138Gly)
n.5572A>G
c.3479A>G (p.Glu1160Gly)
c.1853A>G (p.Glu618Gly)
9g.414868A>TCA372760650DOCK8c.3317A>T (p.Glu1106Val)
n.138A>T
n.2405A>T
c.3617A>T (p.Glu1206Val)
c.2018A>T (p.Glu673Val)
c.3413A>T (p.Glu1138Val)
n.5572A>T
c.3479A>T (p.Glu1160Val)
c.1853A>T (p.Glu618Val)
9g.414869G>ACA463691067DOCK8c.3318G>A (p.Glu1106=)
n.139G>A
n.2406G>A
c.3618G>A (p.Glu1206=)
c.2019G>A (p.Glu673=)
c.3414G>A (p.Glu1138=)
n.5573G>A
c.3480G>A (p.Glu1160=)
c.1854G>A (p.Glu618=)
9g.414869G>CCA372760661DOCK8c.3318G>C (p.Glu1106Asp)
n.139G>C
n.2406G>C
c.3618G>C (p.Glu1206Asp)
c.2019G>C (p.Glu673Asp)
c.3414G>C (p.Glu1138Asp)
n.5573G>C
c.3480G>C (p.Glu1160Asp)
c.1854G>C (p.Glu618Asp)
dbSNP gnomAD v2 gnomAD v4
9g.414869G=CA1826889083DOCK8c.3318G= (p.Glu1106=)
n.139G=
n.2406G=
c.3618G= (p.Glu1206=)
c.2019G= (p.Glu673=)
c.3414G= (p.Glu1138=)
n.5573G=
c.3480G= (p.Glu1160=)
c.1854G= (p.Glu618=)
9g.414869G>TCA372760662DOCK8c.3318G>T (p.Glu1106Asp)
n.139G>T
n.2406G>T
c.3618G>T (p.Glu1206Asp)
c.2019G>T (p.Glu673Asp)
c.3414G>T (p.Glu1138Asp)
n.5573G>T
c.3480G>T (p.Glu1160Asp)
c.1854G>T (p.Glu618Asp)
9g.414870G>ACA372760663DOCK8c.3319G>A (p.Val1107Met)
n.140G>A
n.2407G>A
c.3619G>A (p.Val1207Met)
c.2020G>A (p.Val674Met)
c.3415G>A (p.Val1139Met)
n.5574G>A
c.3481G>A (p.Val1161Met)
c.1855G>A (p.Val619Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414870G>CCA372760666DOCK8c.3319G>C (p.Val1107Leu)
n.140G>C
n.2407G>C
c.3619G>C (p.Val1207Leu)
c.2020G>C (p.Val674Leu)
c.3415G>C (p.Val1139Leu)
n.5574G>C
c.3481G>C (p.Val1161Leu)
c.1855G>C (p.Val619Leu)
9g.414870G=CA1826889085DOCK8c.3319G= (p.Val1107=)
n.140G=
n.2407G=
c.3619G= (p.Val1207=)
c.2020G= (p.Val674=)
c.3415G= (p.Val1139=)
n.5574G=
c.3481G= (p.Val1161=)
c.1855G= (p.Val619=)
9g.414870G>TCA372760668DOCK8c.3319G>T (p.Val1107Leu)
n.140G>T
n.2407G>T
c.3619G>T (p.Val1207Leu)
c.2020G>T (p.Val674Leu)
c.3415G>T (p.Val1139Leu)
n.5574G>T
c.3481G>T (p.Val1161Leu)
c.1855G>T (p.Val619Leu)
dbSNP gnomAD v3 gnomAD v4
9g.414871T>ACA372760673DOCK8c.3320T>A (p.Val1107Glu)
n.141T>A
n.2408T>A
c.3620T>A (p.Val1207Glu)
c.2021T>A (p.Val674Glu)
c.3416T>A (p.Val1139Glu)
n.5575T>A
c.3482T>A (p.Val1161Glu)
c.1856T>A (p.Val619Glu)
9g.414871T>CCA372760676DOCK8c.3320T>C (p.Val1107Ala)
n.141T>C
n.2408T>C
c.3620T>C (p.Val1207Ala)
c.2021T>C (p.Val674Ala)
c.3416T>C (p.Val1139Ala)
n.5575T>C
c.3482T>C (p.Val1161Ala)
c.1856T>C (p.Val619Ala)
9g.414871T>GCA372760680DOCK8c.3320T>G (p.Val1107Gly)
n.141T>G
n.2408T>G
c.3620T>G (p.Val1207Gly)
c.2021T>G (p.Val674Gly)
c.3416T>G (p.Val1139Gly)
n.5575T>G
c.3482T>G (p.Val1161Gly)
c.1856T>G (p.Val619Gly)
9g.414872G>ACA463691068DOCK8c.3321G>A (p.Val1107=)
n.142G>A
n.2409G>A
c.3621G>A (p.Val1207=)
c.2022G>A (p.Val674=)
c.3417G>A (p.Val1139=)
n.5576G>A
c.3483G>A (p.Val1161=)
c.1857G>A (p.Val619=)
9g.414872G>CCA463691069DOCK8c.3321G>C (p.Val1107=)
n.142G>C
n.2409G>C
c.3621G>C (p.Val1207=)
c.2022G>C (p.Val674=)
c.3417G>C (p.Val1139=)
n.5576G>C
c.3483G>C (p.Val1161=)
c.1857G>C (p.Val619=)
9g.414872G>TCA463691070DOCK8c.3321G>T (p.Val1107=)
n.142G>T
n.2409G>T
c.3621G>T (p.Val1207=)
c.2022G>T (p.Val674=)
c.3417G>T (p.Val1139=)
n.5576G>T
c.3483G>T (p.Val1161=)
c.1857G>T (p.Val619=)
9g.414873A>CCA372760681DOCK8c.3322A>C (p.Lys1108Gln)
n.143A>C
n.2410A>C
c.3622A>C (p.Lys1208Gln)
c.2023A>C (p.Lys675Gln)
c.3418A>C (p.Lys1140Gln)
n.5577A>C
c.3484A>C (p.Lys1162Gln)
c.1858A>C (p.Lys620Gln)
9g.414873A>GCA372760682DOCK8c.3322A>G (p.Lys1108Glu)
n.143A>G
n.2410A>G
c.3622A>G (p.Lys1208Glu)
c.2023A>G (p.Lys675Glu)
c.3418A>G (p.Lys1140Glu)
n.5577A>G
c.3484A>G (p.Lys1162Glu)
c.1858A>G (p.Lys620Glu)
9g.414873A>TCA372760684DOCK8c.3322A>T (p.Lys1108Ter)
n.143A>T
n.2410A>T
c.3622A>T (p.Lys1208Ter)
c.2023A>T (p.Lys675Ter)
c.3418A>T (p.Lys1140Ter)
n.5577A>T
c.3484A>T (p.Lys1162Ter)
c.1858A>T (p.Lys620Ter)
9g.414874A>CCA372760698DOCK8c.3323A>C (p.Lys1108Thr)
n.144A>C
n.2411A>C
c.3623A>C (p.Lys1208Thr)
c.2024A>C (p.Lys675Thr)
c.3419A>C (p.Lys1140Thr)
n.5578A>C
c.3485A>C (p.Lys1162Thr)
c.1859A>C (p.Lys620Thr)
9g.414874A>GCA372760688DOCK8c.3323A>G (p.Lys1108Arg)
n.144A>G
n.2411A>G
c.3623A>G (p.Lys1208Arg)
c.2024A>G (p.Lys675Arg)
c.3419A>G (p.Lys1140Arg)
n.5578A>G
c.3485A>G (p.Lys1162Arg)
c.1859A>G (p.Lys620Arg)
9g.414874A>TCA372760692DOCK8c.3323A>T (p.Lys1108Met)
n.144A>T
n.2411A>T
c.3623A>T (p.Lys1208Met)
c.2024A>T (p.Lys675Met)
c.3419A>T (p.Lys1140Met)
n.5578A>T
c.3485A>T (p.Lys1162Met)
c.1859A>T (p.Lys620Met)
9g.414875G>ACA463691071DOCK8c.3324G>A (p.Lys1108=)
n.145G>A
n.2412G>A
c.3624G>A (p.Lys1208=)
c.2025G>A (p.Lys675=)
c.3420G>A (p.Lys1140=)
n.5579G>A
c.3486G>A (p.Lys1162=)
c.1860G>A (p.Lys620=)
9g.414875G>CCA372760704DOCK8c.3324G>C (p.Lys1108Asn)
n.145G>C
n.2412G>C
c.3624G>C (p.Lys1208Asn)
c.2025G>C (p.Lys675Asn)
c.3420G>C (p.Lys1140Asn)
n.5579G>C
c.3486G>C (p.Lys1162Asn)
c.1860G>C (p.Lys620Asn)
9g.414875G=CA1826889087DOCK8c.3324G= (p.Lys1108=)
n.145G=
n.2412G=
c.3624G= (p.Lys1208=)
c.2025G= (p.Lys675=)
c.3420G= (p.Lys1140=)
n.5579G=
c.3486G= (p.Lys1162=)
c.1860G= (p.Lys620=)
9g.414875G>TCA372760705DOCK8c.3324G>T (p.Lys1108Asn)
n.145G>T
n.2412G>T
c.3624G>T (p.Lys1208Asn)
c.2025G>T (p.Lys675Asn)
c.3420G>T (p.Lys1140Asn)
n.5579G>T
c.3486G>T (p.Lys1162Asn)
c.1860G>T (p.Lys620Asn)
dbSNP gnomAD v3 gnomAD v4
9g.414876G>ACA372760708DOCK8c.3325G>A (p.Val1109Ile)
n.146G>A
n.2413G>A
c.3625G>A (p.Val1209Ile)
c.2026G>A (p.Val676Ile)
c.3421G>A (p.Val1141Ile)
n.5580G>A
c.3487G>A (p.Val1163Ile)
c.1861G>A (p.Val621Ile)
dbSNP gnomAD v3 gnomAD v4
9g.414876G>CCA372760710DOCK8c.3325G>C (p.Val1109Leu)
n.146G>C
n.2413G>C
c.3625G>C (p.Val1209Leu)
c.2026G>C (p.Val676Leu)
c.3421G>C (p.Val1141Leu)
n.5580G>C
c.3487G>C (p.Val1163Leu)
c.1861G>C (p.Val621Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.414876G=CA1826889089DOCK8c.3325G= (p.Val1109=)
n.146G=
n.2413G=
c.3625G= (p.Val1209=)
c.2026G= (p.Val676=)
c.3421G= (p.Val1141=)
n.5580G=
c.3487G= (p.Val1163=)
c.1861G= (p.Val621=)
9g.414876G>TCA372760711DOCK8c.3325G>T (p.Val1109Phe)
n.146G>T
n.2413G>T
c.3625G>T (p.Val1209Phe)
c.2026G>T (p.Val676Phe)
c.3421G>T (p.Val1141Phe)
n.5580G>T
c.3487G>T (p.Val1163Phe)
c.1861G>T (p.Val621Phe)
9g.414877T>ACA372760712DOCK8c.3326T>A (p.Val1109Asp)
n.147T>A
n.2414T>A
c.3626T>A (p.Val1209Asp)
c.2027T>A (p.Val676Asp)
c.3422T>A (p.Val1141Asp)
n.5581T>A
c.3488T>A (p.Val1163Asp)
c.1862T>A (p.Val621Asp)
9g.414877T>CCA372760714DOCK8c.3326T>C (p.Val1109Ala)
n.147T>C
n.2414T>C
c.3626T>C (p.Val1209Ala)
c.2027T>C (p.Val676Ala)
c.3422T>C (p.Val1141Ala)
n.5581T>C
c.3488T>C (p.Val1163Ala)
c.1862T>C (p.Val621Ala)
9g.414877T>GCA372760717DOCK8c.3326T>G (p.Val1109Gly)
n.147T>G
n.2414T>G
c.3626T>G (p.Val1209Gly)
c.2027T>G (p.Val676Gly)
c.3422T>G (p.Val1141Gly)
n.5581T>G
c.3488T>G (p.Val1163Gly)
c.1862T>G (p.Val621Gly)
9g.414878C>ACA463691074DOCK8c.3327C>A (p.Val1109=)
n.148C>A
n.2415C>A
c.3627C>A (p.Val1209=)
c.2028C>A (p.Val676=)
c.3423C>A (p.Val1141=)
n.5582C>A
c.3489C>A (p.Val1163=)
c.1863C>A (p.Val621=)
gnomAD v4
9g.414878C>GCA463691072DOCK8c.3327C>G (p.Val1109=)
n.148C>G
n.2415C>G
c.3627C>G (p.Val1209=)
c.2028C>G (p.Val676=)
c.3423C>G (p.Val1141=)
n.5582C>G
c.3489C>G (p.Val1163=)
c.1863C>G (p.Val621=)
9g.414878C>TCA463691073DOCK8c.3327C>T (p.Val1109=)
n.148C>T
n.2415C>T
c.3627C>T (p.Val1209=)
c.2028C>T (p.Val676=)
c.3423C>T (p.Val1141=)
n.5582C>T
c.3489C>T (p.Val1163=)
c.1863C>T (p.Val621=)
9g.414879A=CA1826889091DOCK8c.3328A= (p.Lys1110=)
n.149A=
n.2416A=
c.3628A= (p.Lys1210=)
c.2029A= (p.Lys677=)
c.3424A= (p.Lys1142=)
n.5583A=
c.3490A= (p.Lys1164=)
c.1864A= (p.Lys622=)
9g.414879A>CCA372760721DOCK8c.3328A>C (p.Lys1110Gln)
n.149A>C
n.2416A>C
c.3628A>C (p.Lys1210Gln)
c.2029A>C (p.Lys677Gln)
c.3424A>C (p.Lys1142Gln)
n.5583A>C
c.3490A>C (p.Lys1164Gln)
c.1864A>C (p.Lys622Gln)
dbSNP gnomAD v2 gnomAD v4
9g.414879A>GCA372760722DOCK8c.3328A>G (p.Lys1110Glu)
n.149A>G
n.2416A>G
c.3628A>G (p.Lys1210Glu)
c.2029A>G (p.Lys677Glu)
c.3424A>G (p.Lys1142Glu)
n.5583A>G
c.3490A>G (p.Lys1164Glu)
c.1864A>G (p.Lys622Glu)
9g.414879A>TCA372760723DOCK8c.3328A>T (p.Lys1110Ter)
n.149A>T
n.2416A>T
c.3628A>T (p.Lys1210Ter)
c.2029A>T (p.Lys677Ter)
c.3424A>T (p.Lys1142Ter)
n.5583A>T
c.3490A>T (p.Lys1164Ter)
c.1864A>T (p.Lys622Ter)
9g.414880A=CA1826889093DOCK8c.3329A= (p.Lys1110=)
n.150A=
n.2417A=
c.3629A= (p.Lys1210=)
c.2030A= (p.Lys677=)
c.3425A= (p.Lys1142=)
n.5584A=
c.3491A= (p.Lys1164=)
c.1865A= (p.Lys622=)
9g.414880A>CCA372760727DOCK8c.3329A>C (p.Lys1110Thr)
n.150A>C
n.2417A>C
c.3629A>C (p.Lys1210Thr)
c.2030A>C (p.Lys677Thr)
c.3425A>C (p.Lys1142Thr)
n.5584A>C
c.3491A>C (p.Lys1164Thr)
c.1865A>C (p.Lys622Thr)
9g.414880A>GCA372760728DOCK8c.3329A>G (p.Lys1110Arg)
n.150A>G
n.2417A>G
c.3629A>G (p.Lys1210Arg)
c.2030A>G (p.Lys677Arg)
c.3425A>G (p.Lys1142Arg)
n.5584A>G
c.3491A>G (p.Lys1164Arg)
c.1865A>G (p.Lys622Arg)
ClinVar
9g.414880A>TCA372760724DOCK8c.3329A>T (p.Lys1110Ile)
n.150A>T
n.2417A>T
c.3629A>T (p.Lys1210Ile)
c.2030A>T (p.Lys677Ile)
c.3425A>T (p.Lys1142Ile)
n.5584A>T
c.3491A>T (p.Lys1164Ile)
c.1865A>T (p.Lys622Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414881A>CCA372760729DOCK8c.3330A>C (p.Lys1110Asn)
n.151A>C
n.2418A>C
c.3630A>C (p.Lys1210Asn)
c.2031A>C (p.Lys677Asn)
c.3426A>C (p.Lys1142Asn)
n.5585A>C
c.3492A>C (p.Lys1164Asn)
c.1866A>C (p.Lys622Asn)
COSMIC COSMIC
9g.414881A>GCA463691075DOCK8c.3330A>G (p.Lys1110=)
n.151A>G
n.2418A>G
c.3630A>G (p.Lys1210=)
c.2031A>G (p.Lys677=)
c.3426A>G (p.Lys1142=)
n.5585A>G
c.3492A>G (p.Lys1164=)
c.1866A>G (p.Lys622=)
9g.414881A>TCA372760730DOCK8c.3330A>T (p.Lys1110Asn)
n.151A>T
n.2418A>T
c.3630A>T (p.Lys1210Asn)
c.2031A>T (p.Lys677Asn)
c.3426A>T (p.Lys1142Asn)
n.5585A>T
c.3492A>T (p.Lys1164Asn)
c.1866A>T (p.Lys622Asn)
9g.414882A>CCA372760732DOCK8c.3331A>C (p.Ile1111Leu)
n.152A>C
n.2419A>C
c.3631A>C (p.Ile1211Leu)
c.2032A>C (p.Ile678Leu)
c.3427A>C (p.Ile1143Leu)
n.5586A>C
c.3493A>C (p.Ile1165Leu)
c.1867A>C (p.Ile623Leu)
9g.414882A>GCA372760735DOCK8c.3331A>G (p.Ile1111Val)
n.152A>G
n.2419A>G
c.3631A>G (p.Ile1211Val)
c.2032A>G (p.Ile678Val)
c.3427A>G (p.Ile1143Val)
n.5586A>G
c.3493A>G (p.Ile1165Val)
c.1867A>G (p.Ile623Val)
9g.414882A>TCA372760739DOCK8c.3331A>T (p.Ile1111Phe)
n.152A>T
n.2419A>T
c.3631A>T (p.Ile1211Phe)
c.2032A>T (p.Ile678Phe)
c.3427A>T (p.Ile1143Phe)
n.5586A>T
c.3493A>T (p.Ile1165Phe)
c.1867A>T (p.Ile623Phe)
9g.414883T>ACA372760745DOCK8c.3332T>A (p.Ile1111Asn)
n.153T>A
n.2420T>A
c.3632T>A (p.Ile1211Asn)
c.2033T>A (p.Ile678Asn)
c.3428T>A (p.Ile1143Asn)
n.5587T>A
c.3494T>A (p.Ile1165Asn)
c.1868T>A (p.Ile623Asn)
9g.414883T>CCA372760760DOCK8c.3332T>C (p.Ile1111Thr)
n.153T>C
n.2420T>C
c.3632T>C (p.Ile1211Thr)
c.2033T>C (p.Ile678Thr)
c.3428T>C (p.Ile1143Thr)
n.5587T>C
c.3494T>C (p.Ile1165Thr)
c.1868T>C (p.Ile623Thr)
dbSNP
9g.414883T>GCA372760762DOCK8c.3332T>G (p.Ile1111Ser)
n.153T>G
n.2420T>G
c.3632T>G (p.Ile1211Ser)
c.2033T>G (p.Ile678Ser)
c.3428T>G (p.Ile1143Ser)
n.5587T>G
c.3494T>G (p.Ile1165Ser)
c.1868T>G (p.Ile623Ser)
9g.414883T=CA1826889097DOCK8c.3332T= (p.Ile1111=)
n.153T=
n.2420T=
c.3632T= (p.Ile1211=)
c.2033T= (p.Ile678=)
c.3428T= (p.Ile1143=)
n.5587T=
c.3494T= (p.Ile1165=)
c.1868T= (p.Ile623=)
9g.414884C>ACA463691076DOCK8c.3333C>A (p.Ile1111=)
n.154C>A
n.2421C>A
c.3633C>A (p.Ile1211=)
c.2034C>A (p.Ile678=)
c.3429C>A (p.Ile1143=)
n.5588C>A
c.3495C>A (p.Ile1165=)
c.1869C>A (p.Ile623=)
9g.414884C=CA1826889100DOCK8c.3333C= (p.Ile1111=)
n.154C=
n.2421C=
c.3633C= (p.Ile1211=)
c.2034C= (p.Ile678=)
c.3429C= (p.Ile1143=)
n.5588C=
c.3495C= (p.Ile1165=)
c.1869C= (p.Ile623=)
9g.414884C>GCA372760768DOCK8c.3333C>G (p.Ile1111Met)
n.154C>G
n.2421C>G
c.3633C>G (p.Ile1211Met)
c.2034C>G (p.Ile678Met)
c.3429C>G (p.Ile1143Met)
n.5588C>G
c.3495C>G (p.Ile1165Met)
c.1869C>G (p.Ile623Met)
9g.414884C>TCA4958764DOCK8c.3333C>T (p.Ile1111=)
n.154C>T
n.2421C>T
c.3633C>T (p.Ile1211=)
c.2034C>T (p.Ile678=)
c.3429C>T (p.Ile1143=)
n.5588C>T
c.3495C>T (p.Ile1165=)
c.1869C>T (p.Ile623=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.414885G>ACA4958765DOCK8c.3334G>A (p.Ala1112Thr)
n.155G>A
n.2422G>A
c.3634G>A (p.Ala1212Thr)
c.2035G>A (p.Ala679Thr)
c.3430G>A (p.Ala1144Thr)
n.5589G>A
c.3496G>A (p.Ala1166Thr)
c.1870G>A (p.Ala624Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.414885G>CCA372760775DOCK8c.3334G>C (p.Ala1112Pro)
n.155G>C
n.2422G>C
c.3634G>C (p.Ala1212Pro)
c.2035G>C (p.Ala679Pro)
c.3430G>C (p.Ala1144Pro)
n.5589G>C
c.3496G>C (p.Ala1166Pro)
c.1870G>C (p.Ala624Pro)
9g.414885G=CA1826889103DOCK8c.3334G= (p.Ala1112=)
n.155G=
n.2422G=
c.3634G= (p.Ala1212=)
c.2035G= (p.Ala679=)
c.3430G= (p.Ala1144=)
n.5589G=
c.3496G= (p.Ala1166=)
c.1870G= (p.Ala624=)
9g.414885G>TCA372760780DOCK8c.3334G>T (p.Ala1112Ser)
n.155G>T
n.2422G>T
c.3634G>T (p.Ala1212Ser)
c.2035G>T (p.Ala679Ser)
c.3430G>T (p.Ala1144Ser)
n.5589G>T
c.3496G>T (p.Ala1166Ser)
c.1870G>T (p.Ala624Ser)
9g.414886C>ACA372760791DOCK8c.3335C>A (p.Ala1112Asp)
n.156C>A
n.2423C>A
c.3635C>A (p.Ala1212Asp)
c.2036C>A (p.Ala679Asp)
c.3431C>A (p.Ala1144Asp)
n.5590C>A
c.3497C>A (p.Ala1166Asp)
c.1871C>A (p.Ala624Asp)
dbSNP gnomAD v2 gnomAD v4
9g.414886C=CA1826889107DOCK8c.3335C= (p.Ala1112=)
n.156C=
n.2423C=
c.3635C= (p.Ala1212=)
c.2036C= (p.Ala679=)
c.3431C= (p.Ala1144=)
n.5590C=
c.3497C= (p.Ala1166=)
c.1871C= (p.Ala624=)
9g.414886C>GCA372760790DOCK8c.3335C>G (p.Ala1112Gly)
n.156C>G
n.2423C>G
c.3635C>G (p.Ala1212Gly)
c.2036C>G (p.Ala679Gly)
c.3431C>G (p.Ala1144Gly)
n.5590C>G
c.3497C>G (p.Ala1166Gly)
c.1871C>G (p.Ala624Gly)
gnomAD v4
9g.414886C>TCA372760786DOCK8c.3335C>T (p.Ala1112Val)
n.156C>T
n.2423C>T
c.3635C>T (p.Ala1212Val)
c.2036C>T (p.Ala679Val)
c.3431C>T (p.Ala1144Val)
n.5590C>T
c.3497C>T (p.Ala1166Val)
c.1871C>T (p.Ala624Val)
9g.414887C>ACA463691077DOCK8c.3336C>A (p.Ala1112=)
n.157C>A
n.2424C>A
c.3636C>A (p.Ala1212=)
c.2037C>A (p.Ala679=)
c.3432C>A (p.Ala1144=)
n.5591C>A
c.3498C>A (p.Ala1166=)
c.1872C>A (p.Ala624=)
9g.414887C=CA1826889114DOCK8c.3336C= (p.Ala1112=)
n.157C=
n.2424C=
c.3636C= (p.Ala1212=)
c.2037C= (p.Ala679=)
c.3432C= (p.Ala1144=)
n.5591C=
c.3498C= (p.Ala1166=)
c.1872C= (p.Ala624=)
9g.414887C>GCA463691078DOCK8c.3336C>G (p.Ala1112=)
n.157C>G
n.2424C>G
c.3636C>G (p.Ala1212=)
c.2037C>G (p.Ala679=)
c.3432C>G (p.Ala1144=)
n.5591C>G
c.3498C>G (p.Ala1166=)
c.1872C>G (p.Ala624=)
9g.414887C>TCA4958766DOCK8c.3336C>T (p.Ala1112=)
n.157C>T
n.2424C>T
c.3636C>T (p.Ala1212=)
c.2037C>T (p.Ala679=)
c.3432C>T (p.Ala1144=)
n.5591C>T
c.3498C>T (p.Ala1166=)
c.1872C>T (p.Ala624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.414888G>ACA372760793DOCK8c.3337G>A (p.Ala1113Thr)
n.158G>A
n.2425G>A
c.3637G>A (p.Ala1213Thr)
c.2038G>A (p.Ala680Thr)
c.3433G>A (p.Ala1145Thr)
n.5592G>A
c.3499G>A (p.Ala1167Thr)
c.1873G>A (p.Ala625Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.414888G>CCA372760796DOCK8c.3337G>C (p.Ala1113Pro)
n.158G>C
n.2425G>C
c.3637G>C (p.Ala1213Pro)
c.2038G>C (p.Ala680Pro)
c.3433G>C (p.Ala1145Pro)
n.5592G>C
c.3499G>C (p.Ala1167Pro)
c.1873G>C (p.Ala625Pro)
9g.414888G=CA1826889119DOCK8c.3337G= (p.Ala1113=)
n.158G=
n.2425G=
c.3637G= (p.Ala1213=)
c.2038G= (p.Ala680=)
c.3433G= (p.Ala1145=)
n.5592G=
c.3499G= (p.Ala1167=)
c.1873G= (p.Ala625=)
9g.414888G>TCA372760798DOCK8c.3337G>T (p.Ala1113Ser)
n.158G>T
n.2425G>T
c.3637G>T (p.Ala1213Ser)
c.2038G>T (p.Ala680Ser)
c.3433G>T (p.Ala1145Ser)
n.5592G>T
c.3499G>T (p.Ala1167Ser)
c.1873G>T (p.Ala625Ser)
9g.414889C>ACA372760807DOCK8c.3338C>A (p.Ala1113Asp)
n.159C>A
n.2426C>A
c.3638C>A (p.Ala1213Asp)
c.2039C>A (p.Ala680Asp)
c.3434C>A (p.Ala1145Asp)
n.5593C>A
c.3500C>A (p.Ala1167Asp)
c.1874C>A (p.Ala625Asp)
9g.414889C>GCA372760814DOCK8c.3338C>G (p.Ala1113Gly)
n.159C>G
n.2426C>G
c.3638C>G (p.Ala1213Gly)
c.2039C>G (p.Ala680Gly)
c.3434C>G (p.Ala1145Gly)
n.5593C>G
c.3500C>G (p.Ala1167Gly)
c.1874C>G (p.Ala625Gly)
9g.414889C>TCA372760819DOCK8c.3338C>T (p.Ala1113Val)
n.159C>T
n.2426C>T
c.3638C>T (p.Ala1213Val)
c.2039C>T (p.Ala680Val)
c.3434C>T (p.Ala1145Val)
n.5593C>T
c.3500C>T (p.Ala1167Val)
c.1874C>T (p.Ala625Val)
gnomAD v4
9g.414890C>ACA463691079DOCK8c.3339C>A (p.Ala1113=)
n.160C>A
n.2427C>A
c.3639C>A (p.Ala1213=)
c.2040C>A (p.Ala680=)
c.3435C>A (p.Ala1145=)
n.5594C>A
c.3501C>A (p.Ala1167=)
c.1875C>A (p.Ala625=)
9g.414890C>GCA463691080DOCK8c.3339C>G (p.Ala1113=)
n.160C>G
n.2427C>G
c.3639C>G (p.Ala1213=)
c.2040C>G (p.Ala680=)
c.3435C>G (p.Ala1145=)
n.5594C>G
c.3501C>G (p.Ala1167=)
c.1875C>G (p.Ala625=)
gnomAD v4
9g.414890C>TCA463691081DOCK8c.3339C>T (p.Ala1113=)
n.160C>T
n.2427C>T
c.3639C>T (p.Ala1213=)
c.2040C>T (p.Ala680=)
c.3435C>T (p.Ala1145=)
n.5594C>T
c.3501C>T (p.Ala1167=)
c.1875C>T (p.Ala625=)
COSMIC COSMIC
9g.414891C>ACA372760823DOCK8c.3340C>A (p.Leu1114Ile)
n.161C>A
n.2428C>A
c.3640C>A (p.Leu1214Ile)
c.2041C>A (p.Leu681Ile)
c.3436C>A (p.Leu1146Ile)
n.5595C>A
c.3502C>A (p.Leu1168Ile)
c.1876C>A (p.Leu626Ile)
9g.414891C=CA1826889123DOCK8c.3340C= (p.Leu1114=)
n.161C=
n.2428C=
c.3640C= (p.Leu1214=)
c.2041C= (p.Leu681=)
c.3436C= (p.Leu1146=)
n.5595C=
c.3502C= (p.Leu1168=)
c.1876C= (p.Leu626=)
9g.414891C>GCA372760825DOCK8c.3340C>G (p.Leu1114Val)
n.161C>G
n.2428C>G
c.3640C>G (p.Leu1214Val)
c.2041C>G (p.Leu681Val)
c.3436C>G (p.Leu1146Val)
n.5595C>G
c.3502C>G (p.Leu1168Val)
c.1876C>G (p.Leu626Val)
ClinVar dbSNP gnomAD v4
9g.414891C>TCA372760827DOCK8c.3340C>T (p.Leu1114Phe)
n.161C>T
n.2428C>T
c.3640C>T (p.Leu1214Phe)
c.2041C>T (p.Leu681Phe)
c.3436C>T (p.Leu1146Phe)
n.5595C>T
c.3502C>T (p.Leu1168Phe)
c.1876C>T (p.Leu626Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.414892T>ACA372760831DOCK8c.3341T>A (p.Leu1114His)
n.162T>A
n.2429T>A
c.3641T>A (p.Leu1214His)
c.2042T>A (p.Leu681His)
c.3437T>A (p.Leu1146His)
n.5596T>A
c.3503T>A (p.Leu1168His)
c.1877T>A (p.Leu626His)
9g.414892T>CCA372760833DOCK8c.3341T>C (p.Leu1114Pro)
n.162T>C
n.2429T>C
c.3641T>C (p.Leu1214Pro)
c.2042T>C (p.Leu681Pro)
c.3437T>C (p.Leu1146Pro)
n.5596T>C
c.3503T>C (p.Leu1168Pro)
c.1877T>C (p.Leu626Pro)
9g.414892T>GCA372760835DOCK8c.3341T>G (p.Leu1114Arg)
n.162T>G
n.2429T>G
c.3641T>G (p.Leu1214Arg)
c.2042T>G (p.Leu681Arg)
c.3437T>G (p.Leu1146Arg)
n.5596T>G
c.3503T>G (p.Leu1168Arg)
c.1877T>G (p.Leu626Arg)
gnomAD v4
9g.414893T>ACA463691082DOCK8c.3342T>A (p.Leu1114=)
n.163T>A
n.2430T>A
c.3642T>A (p.Leu1214=)
c.2043T>A (p.Leu681=)
c.3438T>A (p.Leu1146=)
n.5597T>A
c.3504T>A (p.Leu1168=)
c.1878T>A (p.Leu626=)
9g.414893T>CCA463691083DOCK8c.3342T>C (p.Leu1114=)
n.163T>C
n.2430T>C
c.3642T>C (p.Leu1214=)
c.2043T>C (p.Leu681=)
c.3438T>C (p.Leu1146=)
n.5597T>C
c.3504T>C (p.Leu1168=)
c.1878T>C (p.Leu626=)
9g.414893T>GCA463691084DOCK8c.3342T>G (p.Leu1114=)
n.163T>G
n.2430T>G
c.3642T>G (p.Leu1214=)
c.2043T>G (p.Leu681=)
c.3438T>G (p.Leu1146=)
n.5597T>G
c.3504T>G (p.Leu1168=)
c.1878T>G (p.Leu626=)
9g.414894T>ACA372760839DOCK8c.3343T>A (p.Tyr1115Asn)
n.164T>A
n.2431T>A
c.3643T>A (p.Tyr1215Asn)
c.2044T>A (p.Tyr682Asn)
c.3439T>A (p.Tyr1147Asn)
n.5598T>A
c.3505T>A (p.Tyr1169Asn)
c.1879T>A (p.Tyr627Asn)
9g.414894T>CCA372760851DOCK8c.3343T>C (p.Tyr1115His)
n.164T>C
n.2431T>C
c.3643T>C (p.Tyr1215His)
c.2044T>C (p.Tyr682His)
c.3439T>C (p.Tyr1147His)
n.5598T>C
c.3505T>C (p.Tyr1169His)
c.1879T>C (p.Tyr627His)
gnomAD v4
9g.414894T>GCA372760842DOCK8c.3343T>G (p.Tyr1115Asp)
n.164T>G
n.2431T>G
c.3643T>G (p.Tyr1215Asp)
c.2044T>G (p.Tyr682Asp)
c.3439T>G (p.Tyr1147Asp)
n.5598T>G
c.3505T>G (p.Tyr1169Asp)
c.1879T>G (p.Tyr627Asp)
9g.414895A>CCA372760854DOCK8c.3344A>C (p.Tyr1115Ser)
n.165A>C
n.2432A>C
c.3644A>C (p.Tyr1215Ser)
c.2045A>C (p.Tyr682Ser)
c.3440A>C (p.Tyr1147Ser)
n.5599A>C
c.3506A>C (p.Tyr1169Ser)
c.1880A>C (p.Tyr627Ser)
9g.414895A>GCA372760859DOCK8c.3344A>G (p.Tyr1115Cys)
n.165A>G
n.2432A>G
c.3644A>G (p.Tyr1215Cys)
c.2045A>G (p.Tyr682Cys)
c.3440A>G (p.Tyr1147Cys)
n.5599A>G
c.3506A>G (p.Tyr1169Cys)
c.1880A>G (p.Tyr627Cys)
9g.414895A>TCA372760856DOCK8c.3344A>T (p.Tyr1115Phe)
n.165A>T
n.2432A>T
c.3644A>T (p.Tyr1215Phe)
c.2045A>T (p.Tyr682Phe)
c.3440A>T (p.Tyr1147Phe)
n.5599A>T
c.3506A>T (p.Tyr1169Phe)
c.1880A>T (p.Tyr627Phe)
9g.414896C>ACA372760862DOCK8c.3345C>A (p.Tyr1115Ter)
n.166C>A
n.2433C>A
c.3645C>A (p.Tyr1215Ter)
c.2046C>A (p.Tyr682Ter)
c.3441C>A (p.Tyr1147Ter)
n.5600C>A
c.3507C>A (p.Tyr1169Ter)
c.1881C>A (p.Tyr627Ter)
9g.414896C=CA1826889126DOCK8c.3345C= (p.Tyr1115=)
n.166C=
n.2433C=
c.3645C= (p.Tyr1215=)
c.2046C= (p.Tyr682=)
c.3441C= (p.Tyr1147=)
n.5600C=
c.3507C= (p.Tyr1169=)
c.1881C= (p.Tyr627=)
9g.414896C>GCA372760864DOCK8c.3345C>G (p.Tyr1115Ter)
n.166C>G
n.2433C>G
c.3645C>G (p.Tyr1215Ter)
c.2046C>G (p.Tyr682Ter)
c.3441C>G (p.Tyr1147Ter)
n.5600C>G
c.3507C>G (p.Tyr1169Ter)
c.1881C>G (p.Tyr627Ter)
9g.414896C>TCA187777503DOCK8c.3345C>T (p.Tyr1115=)
n.166C>T
n.2433C>T
c.3645C>T (p.Tyr1215=)
c.2046C>T (p.Tyr682=)
c.3441C>T (p.Tyr1147=)
n.5600C>T
c.3507C>T (p.Tyr1169=)
c.1881C>T (p.Tyr627=)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.414897C>ACA372760868DOCK8c.3346C>A (p.Leu1116Ile)
n.167C>A
n.2434C>A
c.3646C>A (p.Leu1216Ile)
c.2047C>A (p.Leu683Ile)
c.3442C>A (p.Leu1148Ile)
n.5601C>A
c.3508C>A (p.Leu1170Ile)
c.1882C>A (p.Leu628Ile)
9g.414897C>GCA372760871DOCK8c.3346C>G (p.Leu1116Val)
n.167C>G
n.2434C>G
c.3646C>G (p.Leu1216Val)
c.2047C>G (p.Leu683Val)
c.3442C>G (p.Leu1148Val)
n.5601C>G
c.3508C>G (p.Leu1170Val)
c.1882C>G (p.Leu628Val)
9g.414897C>TCA463691085DOCK8c.3346C>T (p.Leu1116=)
n.167C>T
n.2434C>T
c.3646C>T (p.Leu1216=)
c.2047C>T (p.Leu683=)
c.3442C>T (p.Leu1148=)
n.5601C>T
c.3508C>T (p.Leu1170=)
c.1882C>T (p.Leu628=)
gnomAD v4
9g.414898T>ACA372760874DOCK8c.3347T>A (p.Leu1116Gln)
n.168T>A
n.2435T>A
c.3647T>A (p.Leu1216Gln)
c.2048T>A (p.Leu683Gln)
c.3443T>A (p.Leu1148Gln)
n.5602T>A
c.3509T>A (p.Leu1170Gln)
c.1883T>A (p.Leu628Gln)
9g.414898T>CCA4958767DOCK8c.3347T>C (p.Leu1116Pro)
n.168T>C
n.2435T>C
c.3647T>C (p.Leu1216Pro)
c.2048T>C (p.Leu683Pro)
c.3443T>C (p.Leu1148Pro)
n.5602T>C
c.3509T>C (p.Leu1170Pro)
c.1883T>C (p.Leu628Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.414898T>GCA372760875DOCK8c.3347T>G (p.Leu1116Arg)
n.168T>G
n.2435T>G
c.3647T>G (p.Leu1216Arg)
c.2048T>G (p.Leu683Arg)
c.3443T>G (p.Leu1148Arg)
n.5602T>G
c.3509T>G (p.Leu1170Arg)
c.1883T>G (p.Leu628Arg)
9g.414898T=CA1826889130DOCK8c.3347T= (p.Leu1116=)
n.168T=
n.2435T=
c.3647T= (p.Leu1216=)
c.2048T= (p.Leu683=)
c.3443T= (p.Leu1148=)
n.5602T=
c.3509T= (p.Leu1170=)
c.1883T= (p.Leu628=)
9g.414899A>CCA463691086DOCK8c.3348A>C (p.Leu1116=)
n.169A>C
n.2436A>C
c.3648A>C (p.Leu1216=)
c.2049A>C (p.Leu683=)
c.3444A>C (p.Leu1148=)
n.5603A>C
c.3510A>C (p.Leu1170=)
c.1884A>C (p.Leu628=)
gnomAD v4
9g.414899A>GCA463691087DOCK8c.3348A>G (p.Leu1116=)
n.169A>G
n.2436A>G
c.3648A>G (p.Leu1216=)
c.2049A>G (p.Leu683=)
c.3444A>G (p.Leu1148=)
n.5603A>G
c.3510A>G (p.Leu1170=)
c.1884A>G (p.Leu628=)
9g.414899A>TCA463691088DOCK8c.3348A>T (p.Leu1116=)
n.169A>T
n.2436A>T
c.3648A>T (p.Leu1216=)
c.2049A>T (p.Leu683=)
c.3444A>T (p.Leu1148=)
n.5603A>T
c.3510A>T (p.Leu1170=)
c.1884A>T (p.Leu628=)
9g.414900C>ACA372760885DOCK8c.3349C>A (p.Pro1117Thr)
n.170C>A
n.2437C>A
c.3649C>A (p.Pro1217Thr)
c.2050C>A (p.Pro684Thr)
c.3445C>A (p.Pro1149Thr)
n.5604C>A
c.3511C>A (p.Pro1171Thr)
c.1885C>A (p.Pro629Thr)
9g.414900C=CA1826889137DOCK8c.3349C= (p.Pro1117=)
n.170C=
n.2437C=
c.3649C= (p.Pro1217=)
c.2050C= (p.Pro684=)
c.3445C= (p.Pro1149=)
n.5604C=
c.3511C= (p.Pro1171=)
c.1885C= (p.Pro629=)
9g.414900C>GCA372760878DOCK8c.3349C>G (p.Pro1117Ala)
n.170C>G
n.2437C>G
c.3649C>G (p.Pro1217Ala)
c.2050C>G (p.Pro684Ala)
c.3445C>G (p.Pro1149Ala)
n.5604C>G
c.3511C>G (p.Pro1171Ala)
c.1885C>G (p.Pro629Ala)
9g.414900C>TCA372760882DOCK8c.3349C>T (p.Pro1117Ser)
n.170C>T
n.2437C>T
c.3649C>T (p.Pro1217Ser)
c.2050C>T (p.Pro684Ser)
c.3445C>T (p.Pro1149Ser)
n.5604C>T
c.3511C>T (p.Pro1171Ser)
c.1885C>T (p.Pro629Ser)
dbSNP gnomAD v3 gnomAD v4
9g.414901C>ACA372760889DOCK8c.3350C>A (p.Pro1117His)
n.171C>A
n.2438C>A
c.3650C>A (p.Pro1217His)
c.2051C>A (p.Pro684His)
c.3446C>A (p.Pro1149His)
n.5605C>A
c.3512C>A (p.Pro1171His)
c.1886C>A (p.Pro629His)
9g.414901C>GCA372760892DOCK8c.3350C>G (p.Pro1117Arg)
n.171C>G
n.2438C>G
c.3650C>G (p.Pro1217Arg)
c.2051C>G (p.Pro684Arg)
c.3446C>G (p.Pro1149Arg)
n.5605C>G
c.3512C>G (p.Pro1171Arg)
c.1886C>G (p.Pro629Arg)
gnomAD v4
9g.414901C>TCA372760897DOCK8c.3350C>T (p.Pro1117Leu)
n.171C>T
n.2438C>T
c.3650C>T (p.Pro1217Leu)
c.2051C>T (p.Pro684Leu)
c.3446C>T (p.Pro1149Leu)
n.5605C>T
c.3512C>T (p.Pro1171Leu)
c.1886C>T (p.Pro629Leu)
9g.414902T>ACA463691089DOCK8c.3351T>A (p.Pro1117=)
n.172T>A
n.2439T>A
c.3651T>A (p.Pro1217=)
c.2052T>A (p.Pro684=)
c.3447T>A (p.Pro1149=)
n.5606T>A
c.3513T>A (p.Pro1171=)
c.1887T>A (p.Pro629=)
9g.414902T>CCA463691090DOCK8c.3351T>C (p.Pro1117=)
n.172T>C
n.2439T>C
c.3651T>C (p.Pro1217=)
c.2052T>C (p.Pro684=)
c.3447T>C (p.Pro1149=)
n.5606T>C
c.3513T>C (p.Pro1171=)
c.1887T>C (p.Pro629=)
9g.414902T>GCA463691091DOCK8c.3351T>G (p.Pro1117=)
n.172T>G
n.2439T>G
c.3651T>G (p.Pro1217=)
c.2052T>G (p.Pro684=)
c.3447T>G (p.Pro1149=)
n.5606T>G
c.3513T>G (p.Pro1171=)
c.1887T>G (p.Pro629=)
9g.414903T>ACA372760904DOCK8c.3352T>A (p.Leu1118Ile)
n.173T>A
n.2440T>A
c.3652T>A (p.Leu1218Ile)
c.2053T>A (p.Leu685Ile)
c.3448T>A (p.Leu1150Ile)
n.5607T>A
c.3514T>A (p.Leu1172Ile)
c.1888T>A (p.Leu630Ile)
9g.414903T>CCA463691092DOCK8c.3352T>C (p.Leu1118=)
n.173T>C
n.2440T>C
c.3652T>C (p.Leu1218=)
c.2053T>C (p.Leu685=)
c.3448T>C (p.Leu1150=)
n.5607T>C
c.3514T>C (p.Leu1172=)
c.1888T>C (p.Leu630=)
9g.414903T>GCA372760906DOCK8c.3352T>G (p.Leu1118Val)
n.173T>G
n.2440T>G
c.3652T>G (p.Leu1218Val)
c.2053T>G (p.Leu685Val)
c.3448T>G (p.Leu1150Val)
n.5607T>G
c.3514T>G (p.Leu1172Val)
c.1888T>G (p.Leu630Val)
9g.414904T>ACA372760910DOCK8c.3353T>A (p.Leu1118Ter)
n.174T>A
n.2441T>A
c.3653T>A (p.Leu1218Ter)
c.2054T>A (p.Leu685Ter)
c.3449T>A (p.Leu1150Ter)
n.5608T>A
c.3515T>A (p.Leu1172Ter)
c.1889T>A (p.Leu630Ter)
9g.414904T>CCA372760914DOCK8c.3353T>C (p.Leu1118Ser)
n.174T>C
n.2441T>C
c.3653T>C (p.Leu1218Ser)
c.2054T>C (p.Leu685Ser)
c.3449T>C (p.Leu1150Ser)
n.5608T>C
c.3515T>C (p.Leu1172Ser)
c.1889T>C (p.Leu630Ser)
9g.414904T>GCA372760912DOCK8c.3353T>G (p.Leu1118Ter)
n.174T>G
n.2441T>G
c.3653T>G (p.Leu1218Ter)
c.2054T>G (p.Leu685Ter)
c.3449T>G (p.Leu1150Ter)
n.5608T>G
c.3515T>G (p.Leu1172Ter)
c.1889T>G (p.Leu630Ter)
9g.414905A>CCA372760922DOCK8c.3354A>C (p.Leu1118Phe)
n.175A>C
n.2442A>C
c.3654A>C (p.Leu1218Phe)
c.2055A>C (p.Leu685Phe)
c.3450A>C (p.Leu1150Phe)
n.5609A>C
c.3516A>C (p.Leu1172Phe)
c.1890A>C (p.Leu630Phe)
9g.414905A>GCA463691093DOCK8c.3354A>G (p.Leu1118=)
n.175A>G
n.2442A>G
c.3654A>G (p.Leu1218=)
c.2055A>G (p.Leu685=)
c.3450A>G (p.Leu1150=)
n.5609A>G
c.3516A>G (p.Leu1172=)
c.1890A>G (p.Leu630=)
9g.414905A>TCA372760933DOCK8c.3354A>T (p.Leu1118Phe)
n.175A>T
n.2442A>T
c.3654A>T (p.Leu1218Phe)
c.2055A>T (p.Leu685Phe)
c.3450A>T (p.Leu1150Phe)
n.5609A>T
c.3516A>T (p.Leu1172Phe)
c.1890A>T (p.Leu630Phe)
gnomAD v4
9g.414906G>ACA372760939DOCK8c.3355G>A (p.Val1119Ile)
n.176G>A
n.2443G>A
c.3655G>A (p.Val1219Ile)
c.2056G>A (p.Val686Ile)
c.3451G>A (p.Val1151Ile)
n.5610G>A
c.3517G>A (p.Val1173Ile)
c.1891G>A (p.Val631Ile)
dbSNP
9g.414906G>CCA372760943DOCK8c.3355G>C (p.Val1119Leu)
n.176G>C
n.2443G>C
c.3655G>C (p.Val1219Leu)
c.2056G>C (p.Val686Leu)
c.3451G>C (p.Val1151Leu)
n.5610G>C
c.3517G>C (p.Val1173Leu)
c.1891G>C (p.Val631Leu)
9g.414906G=CA1826889141DOCK8c.3355G= (p.Val1119=)
n.176G=
n.2443G=
c.3655G= (p.Val1219=)
c.2056G= (p.Val686=)
c.3451G= (p.Val1151=)
n.5610G=
c.3517G= (p.Val1173=)
c.1891G= (p.Val631=)
9g.414906G>TCA372760946DOCK8c.3355G>T (p.Val1119Phe)
n.176G>T
n.2443G>T
c.3655G>T (p.Val1219Phe)
c.2056G>T (p.Val686Phe)
c.3451G>T (p.Val1151Phe)
n.5610G>T
c.3517G>T (p.Val1173Phe)
c.1891G>T (p.Val631Phe)
gnomAD v4
9g.414907T>ACA372760950DOCK8c.3356T>A (p.Val1119Asp)
n.177T>A
n.2444T>A
c.3656T>A (p.Val1219Asp)
c.2057T>A (p.Val686Asp)
c.3452T>A (p.Val1151Asp)
n.5611T>A
c.3518T>A (p.Val1173Asp)
c.1892T>A (p.Val631Asp)
9g.414907T>CCA372760952DOCK8c.3356T>C (p.Val1119Ala)
n.177T>C
n.2444T>C
c.3656T>C (p.Val1219Ala)
c.2057T>C (p.Val686Ala)
c.3452T>C (p.Val1151Ala)
n.5611T>C
c.3518T>C (p.Val1173Ala)
c.1892T>C (p.Val631Ala)
9g.414907T>GCA372760955DOCK8c.3356T>G (p.Val1119Gly)
n.177T>G
n.2444T>G
c.3656T>G (p.Val1219Gly)
c.2057T>G (p.Val686Gly)
c.3452T>G (p.Val1151Gly)
n.5611T>G
c.3518T>G (p.Val1173Gly)
c.1892T>G (p.Val631Gly)
9g.414908T>ACA463691096DOCK8c.3357T>A (p.Val1119=)
n.178T>A
n.2445T>A
c.3657T>A (p.Val1219=)
c.2058T>A (p.Val686=)
c.3453T>A (p.Val1151=)
n.5612T>A
c.3519T>A (p.Val1173=)
c.1893T>A (p.Val631=)
9g.414908T>CCA463691095DOCK8c.3357T>C (p.Val1119=)
n.178T>C
n.2445T>C
c.3657T>C (p.Val1219=)
c.2058T>C (p.Val686=)
c.3453T>C (p.Val1151=)
n.5612T>C
c.3519T>C (p.Val1173=)
c.1893T>C (p.Val631=)
dbSNP
9g.414908T>GCA463691094DOCK8c.3357T>G (p.Val1119=)
n.178T>G
n.2445T>G
c.3657T>G (p.Val1219=)
c.2058T>G (p.Val686=)
c.3453T>G (p.Val1151=)
n.5612T>G
c.3519T>G (p.Val1173=)
c.1893T>G (p.Val631=)
9g.414909G>ACA372760960DOCK8c.3358G>A (p.Gly1120Ser)
n.179G>A
n.2446G>A
c.3658G>A (p.Gly1220Ser)
c.2059G>A (p.Gly687Ser)
c.3454G>A (p.Gly1152Ser)
n.5613G>A
c.3520G>A (p.Gly1174Ser)
c.1894G>A (p.Gly632Ser)
9g.414909G>CCA372760962DOCK8c.3358G>C (p.Gly1120Arg)
n.179G>C
n.2446G>C
c.3658G>C (p.Gly1220Arg)
c.2059G>C (p.Gly687Arg)
c.3454G>C (p.Gly1152Arg)
n.5613G>C
c.3520G>C (p.Gly1174Arg)
c.1894G>C (p.Gly632Arg)
9g.414909G>TCA372760964DOCK8c.3358G>T (p.Gly1120Cys)
n.179G>T
n.2446G>T
c.3658G>T (p.Gly1220Cys)
c.2059G>T (p.Gly687Cys)
c.3454G>T (p.Gly1152Cys)
n.5613G>T
c.3520G>T (p.Gly1174Cys)
c.1894G>T (p.Gly632Cys)
9g.414910G>ACA372760965DOCK8c.3359G>A (p.Gly1120Asp)
n.180G>A
n.2447G>A
c.3659G>A (p.Gly1220Asp)
c.2060G>A (p.Gly687Asp)
c.3455G>A (p.Gly1152Asp)
n.5614G>A
c.3521G>A (p.Gly1174Asp)
c.1895G>A (p.Gly632Asp)
9g.414910G>CCA372760967DOCK8c.3359G>C (p.Gly1120Ala)
n.180G>C
n.2447G>C
c.3659G>C (p.Gly1220Ala)
c.2060G>C (p.Gly687Ala)
c.3455G>C (p.Gly1152Ala)
n.5614G>C
c.3521G>C (p.Gly1174Ala)
c.1895G>C (p.Gly632Ala)
9g.414910G>TCA372760966DOCK8c.3359G>T (p.Gly1120Val)
n.180G>T
n.2447G>T
c.3659G>T (p.Gly1220Val)
c.2060G>T (p.Gly687Val)
c.3455G>T (p.Gly1152Val)
n.5614G>T
c.3521G>T (p.Gly1174Val)
c.1895G>T (p.Gly632Val)
gnomAD v4
9g.414911C>ACA463691097DOCK8c.3360C>A (p.Gly1120=)
n.181C>A
n.2448C>A
c.3660C>A (p.Gly1220=)
c.2061C>A (p.Gly687=)
c.3456C>A (p.Gly1152=)
n.5615C>A
c.3522C>A (p.Gly1174=)
c.1896C>A (p.Gly632=)
9g.414911C>GCA463691099DOCK8c.3360C>G (p.Gly1120=)
n.181C>G
n.2448C>G
c.3660C>G (p.Gly1220=)
c.2061C>G (p.Gly687=)
c.3456C>G (p.Gly1152=)
n.5615C>G
c.3522C>G (p.Gly1174=)
c.1896C>G (p.Gly632=)
9g.414911C>TCA463691098DOCK8c.3360C>T (p.Gly1120=)
n.181C>T
n.2448C>T
c.3660C>T (p.Gly1220=)
c.2061C>T (p.Gly687=)
c.3456C>T (p.Gly1152=)
n.5615C>T
c.3522C>T (p.Gly1174=)
c.1896C>T (p.Gly632=)
9g.414912A>CCA372760970DOCK8c.3361A>C (p.Ile1121Leu)
n.182A>C
n.2449A>C
c.3661A>C (p.Ile1221Leu)
c.2062A>C (p.Ile688Leu)
c.3457A>C (p.Ile1153Leu)
n.5616A>C
c.3523A>C (p.Ile1175Leu)
c.1897A>C (p.Ile633Leu)
9g.414912A>GCA372760972DOCK8c.3361A>G (p.Ile1121Val)
n.182A>G
n.2449A>G
c.3661A>G (p.Ile1221Val)
c.2062A>G (p.Ile688Val)
c.3457A>G (p.Ile1153Val)
n.5616A>G
c.3523A>G (p.Ile1175Val)
c.1897A>G (p.Ile633Val)
gnomAD v4
9g.414912A>TCA372760989DOCK8c.3361A>T (p.Ile1121Phe)
n.182A>T
n.2449A>T
c.3661A>T (p.Ile1221Phe)
c.2062A>T (p.Ile688Phe)
c.3457A>T (p.Ile1153Phe)
n.5616A>T
c.3523A>T (p.Ile1175Phe)
c.1897A>T (p.Ile633Phe)
9g.414913T>ACA372760993DOCK8c.3362T>A (p.Ile1121Asn)
n.183T>A
n.2450T>A
c.3662T>A (p.Ile1221Asn)
c.2063T>A (p.Ile688Asn)
c.3458T>A (p.Ile1153Asn)
n.5617T>A
c.3524T>A (p.Ile1175Asn)
c.1898T>A (p.Ile633Asn)
9g.414913T>CCA187777524DOCK8c.3362T>C (p.Ile1121Thr)
n.183T>C
n.2450T>C
c.3662T>C (p.Ile1221Thr)
c.2063T>C (p.Ile688Thr)
c.3458T>C (p.Ile1153Thr)
n.5617T>C
c.3524T>C (p.Ile1175Thr)
c.1898T>C (p.Ile633Thr)
dbSNP
9g.414913T>GCA372760994DOCK8c.3362T>G (p.Ile1121Ser)
n.183T>G
n.2450T>G
c.3662T>G (p.Ile1221Ser)
c.2063T>G (p.Ile688Ser)
c.3458T>G (p.Ile1153Ser)
n.5617T>G
c.3524T>G (p.Ile1175Ser)
c.1898T>G (p.Ile633Ser)
9g.414913T=CA1826889143DOCK8c.3362T= (p.Ile1121=)
n.183T=
n.2450T=
c.3662T= (p.Ile1221=)
c.2063T= (p.Ile688=)
c.3458T= (p.Ile1153=)
n.5617T=
c.3524T= (p.Ile1175=)
c.1898T= (p.Ile633=)
9g.414914C>ACA463691100DOCK8c.3363C>A (p.Ile1121=)
n.184C>A
n.2451C>A
c.3663C>A (p.Ile1221=)
c.2064C>A (p.Ile688=)
c.3459C>A (p.Ile1153=)
n.5618C>A
c.3525C>A (p.Ile1175=)
c.1899C>A (p.Ile633=)
9g.414914C=CA1826889147DOCK8c.3363C= (p.Ile1121=)
n.184C=
n.2451C=
c.3663C= (p.Ile1221=)
c.2064C= (p.Ile688=)
c.3459C= (p.Ile1153=)
n.5618C=
c.3525C= (p.Ile1175=)
c.1899C= (p.Ile633=)
9g.414914C>GCA4958768DOCK8c.3363C>G (p.Ile1121Met)
n.184C>G
n.2451C>G
c.3663C>G (p.Ile1221Met)
c.2064C>G (p.Ile688Met)
c.3459C>G (p.Ile1153Met)
n.5618C>G
c.3525C>G (p.Ile1175Met)
c.1899C>G (p.Ile633Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.414914C>TCA463691101DOCK8c.3363C>T (p.Ile1121=)
n.184C>T
n.2451C>T
c.3663C>T (p.Ile1221=)
c.2064C>T (p.Ile688=)
c.3459C>T (p.Ile1153=)
n.5618C>T
c.3525C>T (p.Ile1175=)
c.1899C>T (p.Ile633=)
9g.414915A=CA1826889152DOCK8c.3364A= (p.Ile1122=)
n.185A=
n.2452A=
c.3664A= (p.Ile1222=)
c.2065A= (p.Ile689=)
c.3460A= (p.Ile1154=)
n.5619A=
c.3526A= (p.Ile1176=)
c.1900A= (p.Ile634=)
9g.414915A>CCA372761002DOCK8c.3364A>C (p.Ile1122Leu)
n.185A>C
n.2452A>C
c.3664A>C (p.Ile1222Leu)
c.2065A>C (p.Ile689Leu)
c.3460A>C (p.Ile1154Leu)
n.5619A>C
c.3526A>C (p.Ile1176Leu)
c.1900A>C (p.Ile634Leu)
9g.414915A>GCA4958769DOCK8c.3364A>G (p.Ile1122Val)
n.185A>G
n.2452A>G
c.3664A>G (p.Ile1222Val)
c.2065A>G (p.Ile689Val)
c.3460A>G (p.Ile1154Val)
n.5619A>G
c.3526A>G (p.Ile1176Val)
c.1900A>G (p.Ile634Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.414915A>TCA372761009DOCK8c.3364A>T (p.Ile1122Phe)
n.185A>T
n.2452A>T
c.3664A>T (p.Ile1222Phe)
c.2065A>T (p.Ile689Phe)
c.3460A>T (p.Ile1154Phe)
n.5619A>T
c.3526A>T (p.Ile1176Phe)
c.1900A>T (p.Ile634Phe)
9g.414921_414922insTCAAATTTTGGCA2573053184DOCK8c.3370_3371insTCAAATTTTGG (p.Asp1124ValfsTer?)
n.191_192insTCAAATTTTGG
n.2458_2459insTCAAATTTTGG
c.3670_3671insTCAAATTTTGG (p.Asp1224ValfsTer?)
c.2071_2072insTCAAATTTTGG (p.Asp691ValfsTer?)
c.3466_3467insTCAAATTTTGG (p.Asp1156ValfsTer?)
n.5625_5626insTCAAATTTTGG
c.3532_3533insTCAAATTTTGG (p.Asp1178ValfsTer?)
c.1906_1907insTCAAATTTTGG (p.Asp636ValfsTer?)
ClinVar dbSNP
9g.414916T>ACA372761013DOCK8c.3365T>A (p.Ile1122Asn)
n.186T>A
n.2453T>A
c.3665T>A (p.Ile1222Asn)
c.2066T>A (p.Ile689Asn)
c.3461T>A (p.Ile1154Asn)
n.5620T>A
c.3527T>A (p.Ile1176Asn)
c.1901T>A (p.Ile634Asn)
gnomAD v4
9g.414916T>CCA372761014DOCK8c.3365T>C (p.Ile1122Thr)
n.186T>C
n.2453T>C
c.3665T>C (p.Ile1222Thr)
c.2066T>C (p.Ile689Thr)
c.3461T>C (p.Ile1154Thr)
n.5620T>C
c.3527T>C (p.Ile1176Thr)
c.1901T>C (p.Ile634Thr)
9g.414916T>GCA372761015DOCK8c.3365T>G (p.Ile1122Ser)
n.186T>G
n.2453T>G
c.3665T>G (p.Ile1222Ser)
c.2066T>G (p.Ile689Ser)
c.3461T>G (p.Ile1154Ser)
n.5620T>G
c.3527T>G (p.Ile1176Ser)
c.1901T>G (p.Ile634Ser)
9g.414917T>ACA463691102DOCK8c.3366T>A (p.Ile1122=)
n.187T>A
n.2454T>A
c.3666T>A (p.Ile1222=)
c.2067T>A (p.Ile689=)
c.3462T>A (p.Ile1154=)
n.5621T>A
c.3528T>A (p.Ile1176=)
c.1902T>A (p.Ile634=)
9g.414917T>CCA463691103DOCK8c.3366T>C (p.Ile1122=)
n.187T>C
n.2454T>C
c.3666T>C (p.Ile1222=)
c.2067T>C (p.Ile689=)
c.3462T>C (p.Ile1154=)
n.5621T>C
c.3528T>C (p.Ile1176=)
c.1902T>C (p.Ile634=)
9g.414917T>GCA372761017DOCK8c.3366T>G (p.Ile1122Met)
n.187T>G
n.2454T>G
c.3666T>G (p.Ile1222Met)
c.2067T>G (p.Ile689Met)
c.3462T>G (p.Ile1154Met)
n.5621T>G
c.3528T>G (p.Ile1176Met)
c.1902T>G (p.Ile634Met)
9g.414918T>ACA372761020DOCK8c.3367T>A (p.Leu1123Met)
n.188T>A
n.2455T>A
c.3667T>A (p.Leu1223Met)
c.2068T>A (p.Leu690Met)
c.3463T>A (p.Leu1155Met)
n.5622T>A
c.3529T>A (p.Leu1177Met)
c.1903T>A (p.Leu635Met)
9g.414918T>CCA463691104DOCK8c.3367T>C (p.Leu1123=)
n.188T>C
n.2455T>C
c.3667T>C (p.Leu1223=)
c.2068T>C (p.Leu690=)
c.3463T>C (p.Leu1155=)
n.5622T>C
c.3529T>C (p.Leu1177=)
c.1903T>C (p.Leu635=)
9g.414918T>GCA372761028DOCK8c.3367T>G (p.Leu1123Val)
n.188T>G
n.2455T>G
c.3667T>G (p.Leu1223Val)
c.2068T>G (p.Leu690Val)
c.3463T>G (p.Leu1155Val)
n.5622T>G
c.3529T>G (p.Leu1177Val)
c.1903T>G (p.Leu635Val)
9g.414919T>ACA372761030DOCK8c.3368T>A (p.Leu1123Ter)
n.189T>A
n.2456T>A
c.3668T>A (p.Leu1223Ter)
c.2069T>A (p.Leu690Ter)
c.3464T>A (p.Leu1155Ter)
n.5623T>A
c.3530T>A (p.Leu1177Ter)
c.1904T>A (p.Leu635Ter)
9g.414919T>CCA372761032DOCK8c.3368T>C (p.Leu1123Ser)
n.189T>C
n.2456T>C
c.3668T>C (p.Leu1223Ser)
c.2069T>C (p.Leu690Ser)
c.3464T>C (p.Leu1155Ser)
n.5623T>C
c.3530T>C (p.Leu1177Ser)
c.1904T>C (p.Leu635Ser)
9g.414919T>GCA372761035DOCK8c.3368T>G (p.Leu1123Trp)
n.189T>G
n.2456T>G
c.3668T>G (p.Leu1223Trp)
c.2069T>G (p.Leu690Trp)
c.3464T>G (p.Leu1155Trp)
n.5623T>G
c.3530T>G (p.Leu1177Trp)
c.1904T>G (p.Leu635Trp)
gnomAD v4
9g.414920G>ACA463691105DOCK8c.3369G>A (p.Leu1123=)
n.190G>A
n.2457G>A
c.3669G>A (p.Leu1223=)
c.2070G>A (p.Leu690=)
c.3465G>A (p.Leu1155=)
n.5624G>A
c.3531G>A (p.Leu1177=)
c.1905G>A (p.Leu635=)
9g.414920G>CCA372761040DOCK8c.3369G>C (p.Leu1123Phe)
n.190G>C
n.2457G>C
c.3669G>C (p.Leu1223Phe)
c.2070G>C (p.Leu690Phe)
c.3465G>C (p.Leu1155Phe)
n.5624G>C
c.3531G>C (p.Leu1177Phe)
c.1905G>C (p.Leu635Phe)
dbSNP gnomAD v2 gnomAD v4
9g.414920G=CA1826889156DOCK8c.3369G= (p.Leu1123=)
n.190G=
n.2457G=
c.3669G= (p.Leu1223=)
c.2070G= (p.Leu690=)
c.3465G= (p.Leu1155=)
n.5624G=
c.3531G= (p.Leu1177=)
c.1905G= (p.Leu635=)
9g.414920G>TCA372761042DOCK8c.3369G>T (p.Leu1123Phe)
n.190G>T
n.2457G>T
c.3669G>T (p.Leu1223Phe)
c.2070G>T (p.Leu690Phe)
c.3465G>T (p.Leu1155Phe)
n.5624G>T
c.3531G>T (p.Leu1177Phe)
c.1905G>T (p.Leu635Phe)
9g.414921G>ACA372761044DOCK8c.3370G>A (p.Asp1124Asn)
n.191G>A
n.2458G>A
c.3670G>A (p.Asp1224Asn)
c.2071G>A (p.Asp691Asn)
c.3466G>A (p.Asp1156Asn)
n.5625G>A
c.3532G>A (p.Asp1178Asn)
c.1906G>A (p.Asp636Asn)
gnomAD v4
9g.414921G>CCA372761045DOCK8c.3370G>C (p.Asp1124His)
n.191G>C
n.2458G>C
c.3670G>C (p.Asp1224His)
c.2071G>C (p.Asp691His)
c.3466G>C (p.Asp1156His)
n.5625G>C
c.3532G>C (p.Asp1178His)
c.1906G>C (p.Asp636His)
9g.414921G>TCA372761046DOCK8c.3370G>T (p.Asp1124Tyr)
n.191G>T
n.2458G>T
c.3670G>T (p.Asp1224Tyr)
c.2071G>T (p.Asp691Tyr)
c.3466G>T (p.Asp1156Tyr)
n.5625G>T
c.3532G>T (p.Asp1178Tyr)
c.1906G>T (p.Asp636Tyr)
9g.414922A>CCA372761048DOCK8c.3371A>C (p.Asp1124Ala)
n.192A>C
n.2459A>C
c.3671A>C (p.Asp1224Ala)
c.2072A>C (p.Asp691Ala)
c.3467A>C (p.Asp1156Ala)
n.5626A>C
c.3533A>C (p.Asp1178Ala)
c.1907A>C (p.Asp636Ala)
9g.414922A>GCA372761050DOCK8c.3371A>G (p.Asp1124Gly)
n.192A>G
n.2459A>G
c.3671A>G (p.Asp1224Gly)
c.2072A>G (p.Asp691Gly)
c.3467A>G (p.Asp1156Gly)
n.5626A>G
c.3533A>G (p.Asp1178Gly)
c.1907A>G (p.Asp636Gly)
9g.414922A>TCA372761052DOCK8c.3371A>T (p.Asp1124Val)
n.192A>T
n.2459A>T
c.3671A>T (p.Asp1224Val)
c.2072A>T (p.Asp691Val)
c.3467A>T (p.Asp1156Val)
n.5626A>T
c.3533A>T (p.Asp1178Val)
c.1907A>T (p.Asp636Val)
gnomAD v4
9g.414923T>ACA372761054DOCK8c.3372T>A (p.Asp1124Glu)
n.193T>A
n.2460T>A
c.3672T>A (p.Asp1224Glu)
c.2073T>A (p.Asp691Glu)
c.3468T>A (p.Asp1156Glu)
n.5627T>A
c.3534T>A (p.Asp1178Glu)
c.1908T>A (p.Asp636Glu)
9g.414923T>CCA463691106DOCK8c.3372T>C (p.Asp1124=)
n.193T>C
n.2460T>C
c.3672T>C (p.Asp1224=)
c.2073T>C (p.Asp691=)
c.3468T>C (p.Asp1156=)
n.5627T>C
c.3534T>C (p.Asp1178=)
c.1908T>C (p.Asp636=)
9g.414923T>GCA372761055DOCK8c.3372T>G (p.Asp1124Glu)
n.193T>G
n.2460T>G
c.3672T>G (p.Asp1224Glu)
c.2073T>G (p.Asp691Glu)
c.3468T>G (p.Asp1156Glu)
n.5627T>G
c.3534T>G (p.Asp1178Glu)
c.1908T>G (p.Asp636Glu)
9g.414924G>ACA372761056DOCK8c.3373G>A (p.Ala1125Thr)
n.194G>A
n.2461G>A
c.3673G>A (p.Ala1225Thr)
c.2074G>A (p.Ala692Thr)
c.3469G>A (p.Ala1157Thr)
n.5628G>A
c.3535G>A (p.Ala1179Thr)
c.1909G>A (p.Ala637Thr)
dbSNP
9g.414924G>CCA372761058DOCK8c.3373G>C (p.Ala1125Pro)
n.194G>C
n.2461G>C
c.3673G>C (p.Ala1225Pro)
c.2074G>C (p.Ala692Pro)
c.3469G>C (p.Ala1157Pro)
n.5628G>C
c.3535G>C (p.Ala1179Pro)
c.1909G>C (p.Ala637Pro)
9g.414924G=CA1826889159DOCK8c.3373G= (p.Ala1125=)
n.194G=
n.2461G=
c.3673G= (p.Ala1225=)
c.2074G= (p.Ala692=)
c.3469G= (p.Ala1157=)
n.5628G=
c.3535G= (p.Ala1179=)
c.1909G= (p.Ala637=)
9g.414924G>TCA372761059DOCK8c.3373G>T (p.Ala1125Ser)
n.194G>T
n.2461G>T
c.3673G>T (p.Ala1225Ser)
c.2074G>T (p.Ala692Ser)
c.3469G>T (p.Ala1157Ser)
n.5628G>T
c.3535G>T (p.Ala1179Ser)
c.1909G>T (p.Ala637Ser)

Number of alleles fetched