Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.418081C>ACA463692148DOCK8c.3414C>A (p.Arg1138=)
n.235C>A
n.2502C>A
c.3714C>A (p.Arg1238=)
c.2115C>A (p.Arg705=)
c.3510C>A (p.Arg1170=)
n.5669C>A
c.3576C>A (p.Arg1192=)
c.1950C>A (p.Arg650=)
9g.418081C>GCA463692150DOCK8c.3414C>G (p.Arg1138=)
n.235C>G
n.2502C>G
c.3714C>G (p.Arg1238=)
c.2115C>G (p.Arg705=)
c.3510C>G (p.Arg1170=)
n.5669C>G
c.3576C>G (p.Arg1192=)
c.1950C>G (p.Arg650=)
9g.418081C>TCA463692153DOCK8c.3414C>T (p.Arg1138=)
n.235C>T
n.2502C>T
c.3714C>T (p.Arg1238=)
c.2115C>T (p.Arg705=)
c.3510C>T (p.Arg1170=)
n.5669C>T
c.3576C>T (p.Arg1192=)
c.1950C>T (p.Arg650=)
9g.418082A>CCA463692157DOCK8c.3415A>C (p.Arg1139=)
n.236A>C
n.2503A>C
c.3715A>C (p.Arg1239=)
c.2116A>C (p.Arg706=)
c.3511A>C (p.Arg1171=)
n.5670A>C
c.3577A>C (p.Arg1193=)
c.1951A>C (p.Arg651=)
9g.418082A>GCA372761989DOCK8c.3415A>G (p.Arg1139Gly)
n.236A>G
n.2503A>G
c.3715A>G (p.Arg1239Gly)
c.2116A>G (p.Arg706Gly)
c.3511A>G (p.Arg1171Gly)
n.5670A>G
c.3577A>G (p.Arg1193Gly)
c.1951A>G (p.Arg651Gly)
 gnomAD v4
9g.418082A>TCA372761991DOCK8c.3415A>T (p.Arg1139Ter)
n.236A>T
n.2503A>T
c.3715A>T (p.Arg1239Ter)
c.2116A>T (p.Arg706Ter)
c.3511A>T (p.Arg1171Ter)
n.5670A>T
c.3577A>T (p.Arg1193Ter)
c.1951A>T (p.Arg651Ter)
9g.418083G>ACA372761994DOCK8c.3416G>A (p.Arg1139Lys)
n.237G>A
n.2504G>A
c.3716G>A (p.Arg1239Lys)
c.2117G>A (p.Arg706Lys)
c.3512G>A (p.Arg1171Lys)
n.5671G>A
c.3578G>A (p.Arg1193Lys)
c.1952G>A (p.Arg651Lys)
9g.418083G>CCA372761996DOCK8c.3416G>C (p.Arg1139Thr)
n.237G>C
n.2504G>C
c.3716G>C (p.Arg1239Thr)
c.2117G>C (p.Arg706Thr)
c.3512G>C (p.Arg1171Thr)
n.5671G>C
c.3578G>C (p.Arg1193Thr)
c.1952G>C (p.Arg651Thr)
9g.418083G>TCA372762002DOCK8c.3416G>T (p.Arg1139Ile)
n.237G>T
n.2504G>T
c.3716G>T (p.Arg1239Ile)
c.2117G>T (p.Arg706Ile)
c.3512G>T (p.Arg1171Ile)
n.5671G>T
c.3578G>T (p.Arg1193Ile)
c.1952G>T (p.Arg651Ile)
9g.418084A=CA1826891841DOCK8c.3417A= (p.Arg1139=)
n.238A=
n.2505A=
c.3717A= (p.Arg1239=)
c.2118A= (p.Arg706=)
c.3513A= (p.Arg1171=)
n.5672A=
c.3579A= (p.Arg1193=)
c.1953A= (p.Arg651=)
9g.418084A>CCA372762005DOCK8c.3417A>C (p.Arg1139Ser)
n.238A>C
n.2505A>C
c.3717A>C (p.Arg1239Ser)
c.2118A>C (p.Arg706Ser)
c.3513A>C (p.Arg1171Ser)
n.5672A>C
c.3579A>C (p.Arg1193Ser)
c.1953A>C (p.Arg651Ser)
9g.418084A>GCA463692174DOCK8c.3417A>G (p.Arg1139=)
n.238A>G
n.2505A>G
c.3717A>G (p.Arg1239=)
c.2118A>G (p.Arg706=)
c.3513A>G (p.Arg1171=)
n.5672A>G
c.3579A>G (p.Arg1193=)
c.1953A>G (p.Arg651=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.418084A>TCA4958804DOCK8c.3417A>T (p.Arg1139Ser)
n.238A>T
n.2505A>T
c.3717A>T (p.Arg1239Ser)
c.2118A>T (p.Arg706Ser)
c.3513A>T (p.Arg1171Ser)
n.5672A>T
c.3579A>T (p.Arg1193Ser)
c.1953A>T (p.Arg651Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418085T>ACA372762013DOCK8c.3418T>A (p.Tyr1140Asn)
n.239T>A
n.2506T>A
c.3718T>A (p.Tyr1240Asn)
c.2119T>A (p.Tyr707Asn)
c.3514T>A (p.Tyr1172Asn)
n.5673T>A
c.3580T>A (p.Tyr1194Asn)
c.1954T>A (p.Tyr652Asn)
9g.418085T>CCA372762018DOCK8c.3418T>C (p.Tyr1140His)
n.239T>C
n.2506T>C
c.3718T>C (p.Tyr1240His)
c.2119T>C (p.Tyr707His)
c.3514T>C (p.Tyr1172His)
n.5673T>C
c.3580T>C (p.Tyr1194His)
c.1954T>C (p.Tyr652His)
 gnomAD v4
9g.418085T>GCA4958805DOCK8c.3418T>G (p.Tyr1140Asp)
n.239T>G
n.2506T>G
c.3718T>G (p.Tyr1240Asp)
c.2119T>G (p.Tyr707Asp)
c.3514T>G (p.Tyr1172Asp)
n.5673T>G
c.3580T>G (p.Tyr1194Asp)
c.1954T>G (p.Tyr652Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418085T=CA1826891842DOCK8c.3418T= (p.Tyr1140=)
n.239T=
n.2506T=
c.3718T= (p.Tyr1240=)
c.2119T= (p.Tyr707=)
c.3514T= (p.Tyr1172=)
n.5673T=
c.3580T= (p.Tyr1194=)
c.1954T= (p.Tyr652=)
9g.418086A=CA1826891843DOCK8c.3419A= (p.Tyr1140=)
n.240A=
n.2507A=
c.3719A= (p.Tyr1240=)
c.2120A= (p.Tyr707=)
c.3515A= (p.Tyr1172=)
n.5674A=
c.3581A= (p.Tyr1194=)
c.1955A= (p.Tyr652=)
9g.418086A>CCA372762021DOCK8c.3419A>C (p.Tyr1140Ser)
n.240A>C
n.2507A>C
c.3719A>C (p.Tyr1240Ser)
c.2120A>C (p.Tyr707Ser)
c.3515A>C (p.Tyr1172Ser)
n.5674A>C
c.3581A>C (p.Tyr1194Ser)
c.1955A>C (p.Tyr652Ser)
 dbSNP
9g.418086A>GCA372762023DOCK8c.3419A>G (p.Tyr1140Cys)
n.240A>G
n.2507A>G
c.3719A>G (p.Tyr1240Cys)
c.2120A>G (p.Tyr707Cys)
c.3515A>G (p.Tyr1172Cys)
n.5674A>G
c.3581A>G (p.Tyr1194Cys)
c.1955A>G (p.Tyr652Cys)
9g.418086A>TCA372762025DOCK8c.3419A>T (p.Tyr1140Phe)
n.240A>T
n.2507A>T
c.3719A>T (p.Tyr1240Phe)
c.2120A>T (p.Tyr707Phe)
c.3515A>T (p.Tyr1172Phe)
n.5674A>T
c.3581A>T (p.Tyr1194Phe)
c.1955A>T (p.Tyr652Phe)
9g.418086dupCA2689206991DOCK8c.3419dup (p.Tyr1140Ter)
n.240dup
n.2507dup
c.3719dup (p.Tyr1240Ter)
c.2120dup (p.Tyr707Ter)
c.3515dup (p.Tyr1172Ter)
n.5674dup
c.3581dup (p.Tyr1194Ter)
c.1955dup (p.Tyr652Ter)
 gnomAD v4
9g.418087C>ACA372762063DOCK8c.3420C>A (p.Tyr1140Ter)
n.241C>A
n.2508C>A
c.3720C>A (p.Tyr1240Ter)
c.2121C>A (p.Tyr707Ter)
c.3516C>A (p.Tyr1172Ter)
n.5675C>A
c.3582C>A (p.Tyr1194Ter)
c.1956C>A (p.Tyr652Ter)
9g.418087C=CA1826891844DOCK8c.3420C= (p.Tyr1140=)
n.241C=
n.2508C=
c.3720C= (p.Tyr1240=)
c.2121C= (p.Tyr707=)
c.3516C= (p.Tyr1172=)
n.5675C=
c.3582C= (p.Tyr1194=)
c.1956C= (p.Tyr652=)
9g.418087C>GCA372762070DOCK8c.3420C>G (p.Tyr1140Ter)
n.241C>G
n.2508C>G
c.3720C>G (p.Tyr1240Ter)
c.2121C>G (p.Tyr707Ter)
c.3516C>G (p.Tyr1172Ter)
n.5675C>G
c.3582C>G (p.Tyr1194Ter)
c.1956C>G (p.Tyr652Ter)
9g.418087C>TCA463692198DOCK8c.3420C>T (p.Tyr1140=)
n.241C>T
n.2508C>T
c.3720C>T (p.Tyr1240=)
c.2121C>T (p.Tyr707=)
c.3516C>T (p.Tyr1172=)
n.5675C>T
c.3582C>T (p.Tyr1194=)
c.1956C>T (p.Tyr652=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.418088C>ACA372762073DOCK8c.3421C>A (p.Arg1141Ser)
n.242C>A
n.2509C>A
c.3721C>A (p.Arg1241Ser)
c.2122C>A (p.Arg708Ser)
c.3517C>A (p.Arg1173Ser)
n.5676C>A
c.3583C>A (p.Arg1195Ser)
c.1957C>A (p.Arg653Ser)
 gnomAD v4
9g.418088C=CA1826891845DOCK8c.3421C= (p.Arg1141=)
n.242C=
n.2509C=
c.3721C= (p.Arg1241=)
c.2122C= (p.Arg708=)
c.3517C= (p.Arg1173=)
n.5676C=
c.3583C= (p.Arg1195=)
c.1957C= (p.Arg653=)
9g.418088C>GCA372762075DOCK8c.3421C>G (p.Arg1141Gly)
n.242C>G
n.2509C>G
c.3721C>G (p.Arg1241Gly)
c.2122C>G (p.Arg708Gly)
c.3517C>G (p.Arg1173Gly)
n.5676C>G
c.3583C>G (p.Arg1195Gly)
c.1957C>G (p.Arg653Gly)
 dbSNP
9g.418088C>TCA4958806DOCK8c.3421C>T (p.Arg1141Cys)
n.242C>T
n.2509C>T
c.3721C>T (p.Arg1241Cys)
c.2122C>T (p.Arg708Cys)
c.3517C>T (p.Arg1173Cys)
n.5676C>T
c.3583C>T (p.Arg1195Cys)
c.1957C>T (p.Arg653Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418089G>ACA4958807DOCK8c.3422G>A (p.Arg1141His)
n.243G>A
n.2510G>A
c.3722G>A (p.Arg1241His)
c.2123G>A (p.Arg708His)
c.3518G>A (p.Arg1173His)
n.5677G>A
c.3584G>A (p.Arg1195His)
c.1958G>A (p.Arg653His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418089G>CCA372762080DOCK8c.3422G>C (p.Arg1141Pro)
n.243G>C
n.2510G>C
c.3722G>C (p.Arg1241Pro)
c.2123G>C (p.Arg708Pro)
c.3518G>C (p.Arg1173Pro)
n.5677G>C
c.3584G>C (p.Arg1195Pro)
c.1958G>C (p.Arg653Pro)
9g.418089G=CA1826891846DOCK8c.3422G= (p.Arg1141=)
n.243G=
n.2510G=
c.3722G= (p.Arg1241=)
c.2123G= (p.Arg708=)
c.3518G= (p.Arg1173=)
n.5677G=
c.3584G= (p.Arg1195=)
c.1958G= (p.Arg653=)
9g.418089G>TCA372762081DOCK8c.3422G>T (p.Arg1141Leu)
n.243G>T
n.2510G>T
c.3722G>T (p.Arg1241Leu)
c.2123G>T (p.Arg708Leu)
c.3518G>T (p.Arg1173Leu)
n.5677G>T
c.3584G>T (p.Arg1195Leu)
c.1958G>T (p.Arg653Leu)
 dbSNP
9g.418090C>ACA463692218DOCK8c.3423C>A (p.Arg1141=)
n.244C>A
n.2511C>A
c.3723C>A (p.Arg1241=)
c.2124C>A (p.Arg708=)
c.3519C>A (p.Arg1173=)
n.5678C>A
c.3585C>A (p.Arg1195=)
c.1959C>A (p.Arg653=)
 dbSNP
9g.418090C=CA1826891847DOCK8c.3423C= (p.Arg1141=)
n.244C=
n.2511C=
c.3723C= (p.Arg1241=)
c.2124C= (p.Arg708=)
c.3519C= (p.Arg1173=)
n.5678C=
c.3585C= (p.Arg1195=)
c.1959C= (p.Arg653=)
9g.418090C>GCA463692220DOCK8c.3423C>G (p.Arg1141=)
n.244C>G
n.2511C>G
c.3723C>G (p.Arg1241=)
c.2124C>G (p.Arg708=)
c.3519C>G (p.Arg1173=)
n.5678C>G
c.3585C>G (p.Arg1195=)
c.1959C>G (p.Arg653=)
9g.418090C>TCA463692223DOCK8c.3423C>T (p.Arg1141=)
n.244C>T
n.2511C>T
c.3723C>T (p.Arg1241=)
c.2124C>T (p.Arg708=)
c.3519C>T (p.Arg1173=)
n.5678C>T
c.3585C>T (p.Arg1195=)
c.1959C>T (p.Arg653=)
 ClinVar dbSNP gnomAD v4
9g.418091A=CA1826891848DOCK8c.3424A= (p.Thr1142=)
n.245A=
n.2512A=
c.3724A= (p.Thr1242=)
c.2125A= (p.Thr709=)
c.3520A= (p.Thr1174=)
n.5679A=
c.3586A= (p.Thr1196=)
c.1960A= (p.Thr654=)
9g.418091A>CCA372762085DOCK8c.3424A>C (p.Thr1142Pro)
n.245A>C
n.2512A>C
c.3724A>C (p.Thr1242Pro)
c.2125A>C (p.Thr709Pro)
c.3520A>C (p.Thr1174Pro)
n.5679A>C
c.3586A>C (p.Thr1196Pro)
c.1960A>C (p.Thr654Pro)
 dbSNP
9g.418091A>GCA372762087DOCK8c.3424A>G (p.Thr1142Ala)
n.245A>G
n.2512A>G
c.3724A>G (p.Thr1242Ala)
c.2125A>G (p.Thr709Ala)
c.3520A>G (p.Thr1174Ala)
n.5679A>G
c.3586A>G (p.Thr1196Ala)
c.1960A>G (p.Thr654Ala)
9g.418091A>TCA4958808DOCK8c.3424A>T (p.Thr1142Ser)
n.245A>T
n.2512A>T
c.3724A>T (p.Thr1242Ser)
c.2125A>T (p.Thr709Ser)
c.3520A>T (p.Thr1174Ser)
n.5679A>T
c.3586A>T (p.Thr1196Ser)
c.1960A>T (p.Thr654Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418091dupCA2689206992DOCK8c.3424dup (p.Thr1142AsnfsTer6)
n.245dup
n.2512dup
c.3724dup (p.Thr1242AsnfsTer6)
c.2125dup (p.Thr709AsnfsTer6)
c.3520dup (p.Thr1174AsnfsTer6)
n.5679dup
c.3586dup (p.Thr1196AsnfsTer6)
c.1960dup (p.Thr654AsnfsTer6)
 gnomAD v4
9g.418092C>ACA372762091DOCK8c.3425C>A (p.Thr1142Asn)
n.246C>A
n.2513C>A
c.3725C>A (p.Thr1242Asn)
c.2126C>A (p.Thr709Asn)
c.3521C>A (p.Thr1174Asn)
n.5680C>A
c.3587C>A (p.Thr1196Asn)
c.1961C>A (p.Thr654Asn)
9g.418092C=CA1826891849DOCK8c.3425C= (p.Thr1142=)
n.246C=
n.2513C=
c.3725C= (p.Thr1242=)
c.2126C= (p.Thr709=)
c.3521C= (p.Thr1174=)
n.5680C=
c.3587C= (p.Thr1196=)
c.1961C= (p.Thr654=)
9g.418092C>GCA372762092DOCK8c.3425C>G (p.Thr1142Ser)
n.246C>G
n.2513C>G
c.3725C>G (p.Thr1242Ser)
c.2126C>G (p.Thr709Ser)
c.3521C>G (p.Thr1174Ser)
n.5680C>G
c.3587C>G (p.Thr1196Ser)
c.1961C>G (p.Thr654Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.418092C>TCA4958809DOCK8c.3425C>T (p.Thr1142Ile)
n.246C>T
n.2513C>T
c.3725C>T (p.Thr1242Ile)
c.2126C>T (p.Thr709Ile)
c.3521C>T (p.Thr1174Ile)
n.5680C>T
c.3587C>T (p.Thr1196Ile)
c.1961C>T (p.Thr654Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418093C>ACA463692246DOCK8c.3426C>A (p.Thr1142=)
n.247C>A
n.2514C>A
c.3726C>A (p.Thr1242=)
c.2127C>A (p.Thr709=)
c.3522C>A (p.Thr1174=)
n.5681C>A
c.3588C>A (p.Thr1196=)
c.1962C>A (p.Thr654=)
9g.418093C>GCA463692247DOCK8c.3426C>G (p.Thr1142=)
n.247C>G
n.2514C>G
c.3726C>G (p.Thr1242=)
c.2127C>G (p.Thr709=)
c.3522C>G (p.Thr1174=)
n.5681C>G
c.3588C>G (p.Thr1196=)
c.1962C>G (p.Thr654=)
9g.418093C>TCA463692250DOCK8c.3426C>T (p.Thr1142=)
n.247C>T
n.2514C>T
c.3726C>T (p.Thr1242=)
c.2127C>T (p.Thr709=)
c.3522C>T (p.Thr1174=)
n.5681C>T
c.3588C>T (p.Thr1196=)
c.1962C>T (p.Thr654=)
 gnomAD v4
9g.418094A>CCA372762093DOCK8c.3427A>C (p.Ser1143Arg)
n.248A>C
n.2515A>C
c.3727A>C (p.Ser1243Arg)
c.2128A>C (p.Ser710Arg)
c.3523A>C (p.Ser1175Arg)
n.5682A>C
c.3589A>C (p.Ser1197Arg)
c.1963A>C (p.Ser655Arg)
9g.418094A>GCA372762094DOCK8c.3427A>G (p.Ser1143Gly)
n.248A>G
n.2515A>G
c.3727A>G (p.Ser1243Gly)
c.2128A>G (p.Ser710Gly)
c.3523A>G (p.Ser1175Gly)
n.5682A>G
c.3589A>G (p.Ser1197Gly)
c.1963A>G (p.Ser655Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.418094A>TCA372762096DOCK8c.3427A>T (p.Ser1143Cys)
n.248A>T
n.2515A>T
c.3727A>T (p.Ser1243Cys)
c.2128A>T (p.Ser710Cys)
c.3523A>T (p.Ser1175Cys)
n.5682A>T
c.3589A>T (p.Ser1197Cys)
c.1963A>T (p.Ser655Cys)
9g.418095G>ACA372762098DOCK8c.3428G>A (p.Ser1143Asn)
n.249G>A
n.2516G>A
c.3728G>A (p.Ser1243Asn)
c.2129G>A (p.Ser710Asn)
c.3524G>A (p.Ser1175Asn)
n.5683G>A
c.3590G>A (p.Ser1197Asn)
c.1964G>A (p.Ser655Asn)
9g.418095G>CCA372762106DOCK8c.3428G>C (p.Ser1143Thr)
n.249G>C
n.2516G>C
c.3728G>C (p.Ser1243Thr)
c.2129G>C (p.Ser710Thr)
c.3524G>C (p.Ser1175Thr)
n.5683G>C
c.3590G>C (p.Ser1197Thr)
c.1964G>C (p.Ser655Thr)
 gnomAD v4
9g.418095G>TCA372762104DOCK8c.3428G>T (p.Ser1143Ile)
n.249G>T
n.2516G>T
c.3728G>T (p.Ser1243Ile)
c.2129G>T (p.Ser710Ile)
c.3524G>T (p.Ser1175Ile)
n.5683G>T
c.3590G>T (p.Ser1197Ile)
c.1964G>T (p.Ser655Ile)
9g.418096T>ACA372762109DOCK8c.3429T>A (p.Ser1143Arg)
n.250T>A
n.2517T>A
c.3729T>A (p.Ser1243Arg)
c.2130T>A (p.Ser710Arg)
c.3525T>A (p.Ser1175Arg)
n.5684T>A
c.3591T>A (p.Ser1197Arg)
c.1965T>A (p.Ser655Arg)
 gnomAD v4
9g.418096T>CCA463692266DOCK8c.3429T>C (p.Ser1143=)
n.250T>C
n.2517T>C
c.3729T>C (p.Ser1243=)
c.2130T>C (p.Ser710=)
c.3525T>C (p.Ser1175=)
n.5684T>C
c.3591T>C (p.Ser1197=)
c.1965T>C (p.Ser655=)
 ClinVar dbSNP
9g.418096T>GCA372762110DOCK8c.3429T>G (p.Ser1143Arg)
n.250T>G
n.2517T>G
c.3729T>G (p.Ser1243Arg)
c.2130T>G (p.Ser710Arg)
c.3525T>G (p.Ser1175Arg)
n.5684T>G
c.3591T>G (p.Ser1197Arg)
c.1965T>G (p.Ser655Arg)
9g.418097G>ACA372762114DOCK8c.3430G>A (p.Gly1144Ser)
n.251G>A
n.2518G>A
c.3730G>A (p.Gly1244Ser)
c.2131G>A (p.Gly711Ser)
c.3526G>A (p.Gly1176Ser)
n.5685G>A
c.3592G>A (p.Gly1198Ser)
c.1966G>A (p.Gly656Ser)
9g.418097G>CCA372762116DOCK8c.3430G>C (p.Gly1144Arg)
n.251G>C
n.2518G>C
c.3730G>C (p.Gly1244Arg)
c.2131G>C (p.Gly711Arg)
c.3526G>C (p.Gly1176Arg)
n.5685G>C
c.3592G>C (p.Gly1198Arg)
c.1966G>C (p.Gly656Arg)
9g.418097G>TCA372762118DOCK8c.3430G>T (p.Gly1144Cys)
n.251G>T
n.2518G>T
c.3730G>T (p.Gly1244Cys)
c.2131G>T (p.Gly711Cys)
c.3526G>T (p.Gly1176Cys)
n.5685G>T
c.3592G>T (p.Gly1198Cys)
c.1966G>T (p.Gly656Cys)
9g.418098G>ACA4958810DOCK8c.3431G>A (p.Gly1144Asp)
n.252G>A
n.2519G>A
c.3731G>A (p.Gly1244Asp)
c.2132G>A (p.Gly711Asp)
c.3527G>A (p.Gly1176Asp)
n.5686G>A
c.3593G>A (p.Gly1198Asp)
c.1967G>A (p.Gly656Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418098G>CCA372762124DOCK8c.3431G>C (p.Gly1144Ala)
n.252G>C
n.2519G>C
c.3731G>C (p.Gly1244Ala)
c.2132G>C (p.Gly711Ala)
c.3527G>C (p.Gly1176Ala)
n.5686G>C
c.3593G>C (p.Gly1198Ala)
c.1967G>C (p.Gly656Ala)
9g.418098G=CA1826891850DOCK8c.3431G= (p.Gly1144=)
n.252G=
n.2519G=
c.3731G= (p.Gly1244=)
c.2132G= (p.Gly711=)
c.3527G= (p.Gly1176=)
n.5686G=
c.3593G= (p.Gly1198=)
c.1967G= (p.Gly656=)
9g.418098G>TCA372762121DOCK8c.3431G>T (p.Gly1144Val)
n.252G>T
n.2519G>T
c.3731G>T (p.Gly1244Val)
c.2132G>T (p.Gly711Val)
c.3527G>T (p.Gly1176Val)
n.5686G>T
c.3593G>T (p.Gly1198Val)
c.1967G>T (p.Gly656Val)
9g.418099C>ACA463692293DOCK8c.3432C>A (p.Gly1144=)
n.253C>A
n.2520C>A
c.3732C>A (p.Gly1244=)
c.2133C>A (p.Gly711=)
c.3528C>A (p.Gly1176=)
n.5687C>A
c.3594C>A (p.Gly1198=)
c.1968C>A (p.Gly656=)
9g.418099C>GCA463692288DOCK8c.3432C>G (p.Gly1144=)
n.253C>G
n.2520C>G
c.3732C>G (p.Gly1244=)
c.2133C>G (p.Gly711=)
c.3528C>G (p.Gly1176=)
n.5687C>G
c.3594C>G (p.Gly1198=)
c.1968C>G (p.Gly656=)
 gnomAD v4
9g.418099C>TCA463692285DOCK8c.3432C>T (p.Gly1144=)
n.253C>T
n.2520C>T
c.3732C>T (p.Gly1244=)
c.2133C>T (p.Gly711=)
c.3528C>T (p.Gly1176=)
n.5687C>T
c.3594C>T (p.Gly1198=)
c.1968C>T (p.Gly656=)
9g.418100T>ACA372762129DOCK8c.3433T>A (p.Ser1145Thr)
n.254T>A
n.2521T>A
c.3733T>A (p.Ser1245Thr)
c.2134T>A (p.Ser712Thr)
c.3529T>A (p.Ser1177Thr)
n.5688T>A
c.3595T>A (p.Ser1199Thr)
c.1969T>A (p.Ser657Thr)
9g.418100T>CCA372762127DOCK8c.3433T>C (p.Ser1145Pro)
n.254T>C
n.2521T>C
c.3733T>C (p.Ser1245Pro)
c.2134T>C (p.Ser712Pro)
c.3529T>C (p.Ser1177Pro)
n.5688T>C
c.3595T>C (p.Ser1199Pro)
c.1969T>C (p.Ser657Pro)
9g.418100T>GCA372762130DOCK8c.3433T>G (p.Ser1145Ala)
n.254T>G
n.2521T>G
c.3733T>G (p.Ser1245Ala)
c.2134T>G (p.Ser712Ala)
c.3529T>G (p.Ser1177Ala)
n.5688T>G
c.3595T>G (p.Ser1199Ala)
c.1969T>G (p.Ser657Ala)
9g.418101C>ACA372762132DOCK8c.3434C>A (p.Ser1145Ter)
n.255C>A
n.2522C>A
c.3734C>A (p.Ser1245Ter)
c.2135C>A (p.Ser712Ter)
c.3530C>A (p.Ser1177Ter)
n.5689C>A
c.3596C>A (p.Ser1199Ter)
c.1970C>A (p.Ser657Ter)
9g.418101C=CA1826891851DOCK8c.3434C= (p.Ser1145=)
n.255C=
n.2522C=
c.3734C= (p.Ser1245=)
c.2135C= (p.Ser712=)
c.3530C= (p.Ser1177=)
n.5689C=
c.3596C= (p.Ser1199=)
c.1970C= (p.Ser657=)
9g.418101C>GCA372762134DOCK8c.3434C>G (p.Ser1145Trp)
n.255C>G
n.2522C>G
c.3734C>G (p.Ser1245Trp)
c.2135C>G (p.Ser712Trp)
c.3530C>G (p.Ser1177Trp)
n.5689C>G
c.3596C>G (p.Ser1199Trp)
c.1970C>G (p.Ser657Trp)
9g.418101C>TCA4958811DOCK8c.3434C>T (p.Ser1145Leu)
n.255C>T
n.2522C>T
c.3734C>T (p.Ser1245Leu)
c.2135C>T (p.Ser712Leu)
c.3530C>T (p.Ser1177Leu)
n.5689C>T
c.3596C>T (p.Ser1199Leu)
c.1970C>T (p.Ser657Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418102G>ACA4958813DOCK8c.3435G>A (p.Ser1145=)
n.256G>A
n.2523G>A
c.3735G>A (p.Ser1245=)
c.2136G>A (p.Ser712=)
c.3531G>A (p.Ser1177=)
n.5690G>A
c.3597G>A (p.Ser1199=)
c.1971G>A (p.Ser657=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.418102G>CCA4958812DOCK8c.3435G>C (p.Ser1145=)
n.256G>C
n.2523G>C
c.3735G>C (p.Ser1245=)
c.2136G>C (p.Ser712=)
c.3531G>C (p.Ser1177=)
n.5690G>C
c.3597G>C (p.Ser1199=)
c.1971G>C (p.Ser657=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418102G=CA1826891852DOCK8c.3435G= (p.Ser1145=)
n.256G=
n.2523G=
c.3735G= (p.Ser1245=)
c.2136G= (p.Ser712=)
c.3531G= (p.Ser1177=)
n.5690G=
c.3597G= (p.Ser1199=)
c.1971G= (p.Ser657=)
9g.418102G>TCA463692312DOCK8c.3435G>T (p.Ser1145=)
n.256G>T
n.2523G>T
c.3735G>T (p.Ser1245=)
c.2136G>T (p.Ser712=)
c.3531G>T (p.Ser1177=)
n.5690G>T
c.3597G>T (p.Ser1199=)
c.1971G>T (p.Ser657=)
9g.418103delCA2689206993DOCK8c.3436del (p.Asp1146MetfsTer18)
n.257del
n.2524del
c.3736del (p.Asp1246MetfsTer18)
c.2137del (p.Asp713MetfsTer18)
c.3532del (p.Asp1178MetfsTer18)
n.5691del
c.3598del (p.Asp1200MetfsTer18)
c.1972del (p.Asp658MetfsTer18)
 gnomAD v4
9g.418103G>ACA372762139DOCK8c.3436G>A (p.Asp1146Asn)
n.257G>A
n.2524G>A
c.3736G>A (p.Asp1246Asn)
c.2137G>A (p.Asp713Asn)
c.3532G>A (p.Asp1178Asn)
n.5691G>A
c.3598G>A (p.Asp1200Asn)
c.1972G>A (p.Asp658Asn)
9g.418103G>CCA372762140DOCK8c.3436G>C (p.Asp1146His)
n.257G>C
n.2524G>C
c.3736G>C (p.Asp1246His)
c.2137G>C (p.Asp713His)
c.3532G>C (p.Asp1178His)
n.5691G>C
c.3598G>C (p.Asp1200His)
c.1972G>C (p.Asp658His)
9g.418103G>TCA372762141DOCK8c.3436G>T (p.Asp1146Tyr)
n.257G>T
n.2524G>T
c.3736G>T (p.Asp1246Tyr)
c.2137G>T (p.Asp713Tyr)
c.3532G>T (p.Asp1178Tyr)
n.5691G>T
c.3598G>T (p.Asp1200Tyr)
c.1972G>T (p.Asp658Tyr)
9g.418104A=CA1826891853DOCK8c.3437A= (p.Asp1146=)
n.258A=
n.2525A=
c.3737A= (p.Asp1246=)
c.2138A= (p.Asp713=)
c.3533A= (p.Asp1178=)
n.5692A=
c.3599A= (p.Asp1200=)
c.1973A= (p.Asp658=)
9g.418104A>CCA372762142DOCK8c.3437A>C (p.Asp1146Ala)
n.258A>C
n.2525A>C
c.3737A>C (p.Asp1246Ala)
c.2138A>C (p.Asp713Ala)
c.3533A>C (p.Asp1178Ala)
n.5692A>C
c.3599A>C (p.Asp1200Ala)
c.1973A>C (p.Asp658Ala)
 dbSNP gnomAD v2
9g.418104A>GCA4958814DOCK8c.3437A>G (p.Asp1146Gly)
n.258A>G
n.2525A>G
c.3737A>G (p.Asp1246Gly)
c.2138A>G (p.Asp713Gly)
c.3533A>G (p.Asp1178Gly)
n.5692A>G
c.3599A>G (p.Asp1200Gly)
c.1973A>G (p.Asp658Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418104A>TCA372762143DOCK8c.3437A>T (p.Asp1146Val)
n.258A>T
n.2525A>T
c.3737A>T (p.Asp1246Val)
c.2138A>T (p.Asp713Val)
c.3533A>T (p.Asp1178Val)
n.5692A>T
c.3599A>T (p.Asp1200Val)
c.1973A>T (p.Asp658Val)
9g.418105T>ACA372762144DOCK8c.3438T>A (p.Asp1146Glu)
n.259T>A
n.2526T>A
c.3738T>A (p.Asp1246Glu)
c.2139T>A (p.Asp713Glu)
c.3534T>A (p.Asp1178Glu)
n.5693T>A
c.3600T>A (p.Asp1200Glu)
c.1974T>A (p.Asp658Glu)
9g.418105T>CCA463692337DOCK8c.3438T>C (p.Asp1146=)
n.259T>C
n.2526T>C
c.3738T>C (p.Asp1246=)
c.2139T>C (p.Asp713=)
c.3534T>C (p.Asp1178=)
n.5693T>C
c.3600T>C (p.Asp1200=)
c.1974T>C (p.Asp658=)
9g.418105T>GCA372762145DOCK8c.3438T>G (p.Asp1146Glu)
n.259T>G
n.2526T>G
c.3738T>G (p.Asp1246Glu)
c.2139T>G (p.Asp713Glu)
c.3534T>G (p.Asp1178Glu)
n.5693T>G
c.3600T>G (p.Asp1200Glu)
c.1974T>G (p.Asp658Glu)
9g.418106G>ACA372762146DOCK8c.3439G>A (p.Glu1147Lys)
n.260G>A
n.2527G>A
c.3739G>A (p.Glu1247Lys)
c.2140G>A (p.Glu714Lys)
c.3535G>A (p.Glu1179Lys)
n.5694G>A
c.3601G>A (p.Glu1201Lys)
c.1975G>A (p.Glu659Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.418106G>CCA372762148DOCK8c.3439G>C (p.Glu1147Gln)
n.260G>C
n.2527G>C
c.3739G>C (p.Glu1247Gln)
c.2140G>C (p.Glu714Gln)
c.3535G>C (p.Glu1179Gln)
n.5694G>C
c.3601G>C (p.Glu1201Gln)
c.1975G>C (p.Glu659Gln)
9g.418106G=CA1826891854DOCK8c.3439G= (p.Glu1147=)
n.260G=
n.2527G=
c.3739G= (p.Glu1247=)
c.2140G= (p.Glu714=)
c.3535G= (p.Glu1179=)
n.5694G=
c.3601G= (p.Glu1201=)
c.1975G= (p.Glu659=)
9g.418106G>TCA372762147DOCK8c.3439G>T (p.Glu1147Ter)
n.260G>T
n.2527G>T
c.3739G>T (p.Glu1247Ter)
c.2140G>T (p.Glu714Ter)
c.3535G>T (p.Glu1179Ter)
n.5694G>T
c.3601G>T (p.Glu1201Ter)
c.1975G>T (p.Glu659Ter)
9g.418107A>CCA372762149DOCK8c.3440A>C (p.Glu1147Ala)
n.261A>C
n.2528A>C
c.3740A>C (p.Glu1247Ala)
c.2141A>C (p.Glu714Ala)
c.3536A>C (p.Glu1179Ala)
n.5695A>C
c.3602A>C (p.Glu1201Ala)
c.1976A>C (p.Glu659Ala)
9g.418107A>GCA372762150DOCK8c.3440A>G (p.Glu1147Gly)
n.261A>G
n.2528A>G
c.3740A>G (p.Glu1247Gly)
c.2141A>G (p.Glu714Gly)
c.3536A>G (p.Glu1179Gly)
n.5695A>G
c.3602A>G (p.Glu1201Gly)
c.1976A>G (p.Glu659Gly)
 gnomAD v4
9g.418107A>TCA372762151DOCK8c.3440A>T (p.Glu1147Val)
n.261A>T
n.2528A>T
c.3740A>T (p.Glu1247Val)
c.2141A>T (p.Glu714Val)
c.3536A>T (p.Glu1179Val)
n.5695A>T
c.3602A>T (p.Glu1201Val)
c.1976A>T (p.Glu659Val)
9g.418108A=CA1826891855DOCK8c.3441A= (p.Glu1147=)
n.262A=
n.2529A=
c.3741A= (p.Glu1247=)
c.2142A= (p.Glu714=)
c.3537A= (p.Glu1179=)
n.5696A=
c.3603A= (p.Glu1201=)
c.1977A= (p.Glu659=)
9g.418108A>CCA372762152DOCK8c.3441A>C (p.Glu1147Asp)
n.262A>C
n.2529A>C
c.3741A>C (p.Glu1247Asp)
c.2142A>C (p.Glu714Asp)
c.3537A>C (p.Glu1179Asp)
n.5696A>C
c.3603A>C (p.Glu1201Asp)
c.1977A>C (p.Glu659Asp)
9g.418108A>GCA463692356DOCK8c.3441A>G (p.Glu1147=)
n.262A>G
n.2529A>G
c.3741A>G (p.Glu1247=)
c.2142A>G (p.Glu714=)
c.3537A>G (p.Glu1179=)
n.5696A>G
c.3603A>G (p.Glu1201=)
c.1977A>G (p.Glu659=)
 dbSNP
9g.418108A>TCA372762153DOCK8c.3441A>T (p.Glu1147Asp)
n.262A>T
n.2529A>T
c.3741A>T (p.Glu1247Asp)
c.2142A>T (p.Glu714Asp)
c.3537A>T (p.Glu1179Asp)
n.5696A>T
c.3603A>T (p.Glu1201Asp)
c.1977A>T (p.Glu659Asp)
9g.418109G>ACA372762154DOCK8c.3442G>A (p.Glu1148Lys)
n.263G>A
n.2530G>A
c.3742G>A (p.Glu1248Lys)
c.2143G>A (p.Glu715Lys)
c.3538G>A (p.Glu1180Lys)
n.5697G>A
c.3604G>A (p.Glu1202Lys)
c.1978G>A (p.Glu660Lys)
9g.418109G>CCA372762155DOCK8c.3442G>C (p.Glu1148Gln)
n.263G>C
n.2530G>C
c.3742G>C (p.Glu1248Gln)
c.2143G>C (p.Glu715Gln)
c.3538G>C (p.Glu1180Gln)
n.5697G>C
c.3604G>C (p.Glu1202Gln)
c.1978G>C (p.Glu660Gln)
 gnomAD v4
9g.418109G>TCA372762156DOCK8c.3442G>T (p.Glu1148Ter)
n.263G>T
n.2530G>T
c.3742G>T (p.Glu1248Ter)
c.2143G>T (p.Glu715Ter)
c.3538G>T (p.Glu1180Ter)
n.5697G>T
c.3604G>T (p.Glu1202Ter)
c.1978G>T (p.Glu660Ter)
9g.418110A>CCA372762157DOCK8c.3443A>C (p.Glu1148Ala)
n.264A>C
n.2531A>C
c.3743A>C (p.Glu1248Ala)
c.2144A>C (p.Glu715Ala)
c.3539A>C (p.Glu1180Ala)
n.5698A>C
c.3605A>C (p.Glu1202Ala)
c.1979A>C (p.Glu660Ala)
9g.418110A>GCA372762158DOCK8c.3443A>G (p.Glu1148Gly)
n.264A>G
n.2531A>G
c.3743A>G (p.Glu1248Gly)
c.2144A>G (p.Glu715Gly)
c.3539A>G (p.Glu1180Gly)
n.5698A>G
c.3605A>G (p.Glu1202Gly)
c.1979A>G (p.Glu660Gly)
 gnomAD v4
9g.418110A>TCA372762159DOCK8c.3443A>T (p.Glu1148Val)
n.264A>T
n.2531A>T
c.3743A>T (p.Glu1248Val)
c.2144A>T (p.Glu715Val)
c.3539A>T (p.Glu1180Val)
n.5698A>T
c.3605A>T (p.Glu1202Val)
c.1979A>T (p.Glu660Val)
9g.418111A>CCA372762161DOCK8c.3444A>C (p.Glu1148Asp)
n.265A>C
n.2532A>C
c.3744A>C (p.Glu1248Asp)
c.2145A>C (p.Glu715Asp)
c.3540A>C (p.Glu1180Asp)
n.5699A>C
c.3606A>C (p.Glu1202Asp)
c.1980A>C (p.Glu660Asp)
9g.418111A>GCA463692366DOCK8c.3444A>G (p.Glu1148=)
n.265A>G
n.2532A>G
c.3744A>G (p.Glu1248=)
c.2145A>G (p.Glu715=)
c.3540A>G (p.Glu1180=)
n.5699A>G
c.3606A>G (p.Glu1202=)
c.1980A>G (p.Glu660=)
9g.418111A>TCA372762160DOCK8c.3444A>T (p.Glu1148Asp)
n.265A>T
n.2532A>T
c.3744A>T (p.Glu1248Asp)
c.2145A>T (p.Glu715Asp)
c.3540A>T (p.Glu1180Asp)
n.5699A>T
c.3606A>T (p.Glu1202Asp)
c.1980A>T (p.Glu660Asp)
9g.418112C>ACA372762162DOCK8c.3445C>A (p.Gln1149Lys)
n.266C>A
n.2533C>A
c.3745C>A (p.Gln1249Lys)
c.2146C>A (p.Gln716Lys)
c.3541C>A (p.Gln1181Lys)
n.5700C>A
c.3607C>A (p.Gln1203Lys)
c.1981C>A (p.Gln661Lys)
 dbSNP
9g.418112C=CA1826891856DOCK8c.3445C= (p.Gln1149=)
n.266C=
n.2533C=
c.3745C= (p.Gln1249=)
c.2146C= (p.Gln716=)
c.3541C= (p.Gln1181=)
n.5700C=
c.3607C= (p.Gln1203=)
c.1981C= (p.Gln661=)
9g.418112C>GCA372762163DOCK8c.3445C>G (p.Gln1149Glu)
n.266C>G
n.2533C>G
c.3745C>G (p.Gln1249Glu)
c.2146C>G (p.Gln716Glu)
c.3541C>G (p.Gln1181Glu)
n.5700C>G
c.3607C>G (p.Gln1203Glu)
c.1981C>G (p.Gln661Glu)
 gnomAD v4
9g.418112C>TCA372762164DOCK8c.3445C>T (p.Gln1149Ter)
n.266C>T
n.2533C>T
c.3745C>T (p.Gln1249Ter)
c.2146C>T (p.Gln716Ter)
c.3541C>T (p.Gln1181Ter)
n.5700C>T
c.3607C>T (p.Gln1203Ter)
c.1981C>T (p.Gln661Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.418112_418115delinsCAAGCA1826891857DOCK8c.3445_3448delinsCAAG (p.Gln1149=)
n.266_269delinsCAAG
n.2533_2536delinsCAAG
c.3745_3748delinsCAAG (p.Gln1249=)
c.2146_2149delinsCAAG (p.Gln716=)
c.3541_3544delinsCAAG (p.Gln1181=)
n.5700_5703delinsCAAG
c.3607_3610delinsCAAG (p.Gln1203=)
c.1981_1984delinsCAAG (p.Gln661=)
9g.418113A>CCA372762165DOCK8c.3446A>C (p.Gln1149Pro)
n.267A>C
n.2534A>C
c.3746A>C (p.Gln1249Pro)
c.2147A>C (p.Gln716Pro)
c.3542A>C (p.Gln1181Pro)
n.5701A>C
c.3608A>C (p.Gln1203Pro)
c.1982A>C (p.Gln661Pro)
9g.418113A>GCA372762166DOCK8c.3446A>G (p.Gln1149Arg)
n.267A>G
n.2534A>G
c.3746A>G (p.Gln1249Arg)
c.2147A>G (p.Gln716Arg)
c.3542A>G (p.Gln1181Arg)
n.5701A>G
c.3608A>G (p.Gln1203Arg)
c.1982A>G (p.Gln661Arg)
9g.418113A>TCA372762167DOCK8c.3446A>T (p.Gln1149Leu)
n.267A>T
n.2534A>T
c.3746A>T (p.Gln1249Leu)
c.2147A>T (p.Gln716Leu)
c.3542A>T (p.Gln1181Leu)
n.5701A>T
c.3608A>T (p.Gln1203Leu)
c.1982A>T (p.Gln661Leu)
9g.418116_418118delCA1826891858DOCK8c.3449_3451del (p.Glu1150del)
n.270_272del
n.2537_2539del
c.3749_3751del (p.Glu1250del)
c.2150_2152del (p.Glu717del)
c.3545_3547del (p.Glu1182del)
n.5704_5706del
c.3611_3613del (p.Glu1204del)
c.1985_1987del (p.Glu662del)
 dbSNP
9g.418114A>CCA372762168DOCK8c.3447A>C (p.Gln1149His)
n.268A>C
n.2535A>C
c.3747A>C (p.Gln1249His)
c.2148A>C (p.Gln716His)
c.3543A>C (p.Gln1181His)
n.5702A>C
c.3609A>C (p.Gln1203His)
c.1983A>C (p.Gln661His)
9g.418114A>GCA463692386DOCK8c.3447A>G (p.Gln1149=)
n.268A>G
n.2535A>G
c.3747A>G (p.Gln1249=)
c.2148A>G (p.Gln716=)
c.3543A>G (p.Gln1181=)
n.5702A>G
c.3609A>G (p.Gln1203=)
c.1983A>G (p.Gln661=)
 ClinVar gnomAD v4
9g.418114A>TCA372762169DOCK8c.3447A>T (p.Gln1149His)
n.268A>T
n.2535A>T
c.3747A>T (p.Gln1249His)
c.2148A>T (p.Gln716His)
c.3543A>T (p.Gln1181His)
n.5702A>T
c.3609A>T (p.Gln1203His)
c.1983A>T (p.Gln661His)
9g.418115G>ACA372762170DOCK8c.3448G>A (p.Glu1150Lys)
n.269G>A
n.2536G>A
c.3748G>A (p.Glu1250Lys)
c.2149G>A (p.Glu717Lys)
c.3544G>A (p.Glu1182Lys)
n.5703G>A
c.3610G>A (p.Glu1204Lys)
c.1984G>A (p.Glu662Lys)
 dbSNP
9g.418115G>CCA372762171DOCK8c.3448G>C (p.Glu1150Gln)
n.269G>C
n.2536G>C
c.3748G>C (p.Glu1250Gln)
c.2149G>C (p.Glu717Gln)
c.3544G>C (p.Glu1182Gln)
n.5703G>C
c.3610G>C (p.Glu1204Gln)
c.1984G>C (p.Glu662Gln)
 gnomAD v4
9g.418115G=CA1826891859DOCK8c.3448G= (p.Glu1150=)
n.269G=
n.2536G=
c.3748G= (p.Glu1250=)
c.2149G= (p.Glu717=)
c.3544G= (p.Glu1182=)
n.5703G=
c.3610G= (p.Glu1204=)
c.1984G= (p.Glu662=)
9g.418115G>TCA372762172DOCK8c.3448G>T (p.Glu1150Ter)
n.269G>T
n.2536G>T
c.3748G>T (p.Glu1250Ter)
c.2149G>T (p.Glu717Ter)
c.3544G>T (p.Glu1182Ter)
n.5703G>T
c.3610G>T (p.Glu1204Ter)
c.1984G>T (p.Glu662Ter)
9g.418116A=CA1826891860DOCK8c.3449A= (p.Glu1150=)
n.270A=
n.2537A=
c.3749A= (p.Glu1250=)
c.2150A= (p.Glu717=)
c.3545A= (p.Glu1182=)
n.5704A=
c.3611A= (p.Glu1204=)
c.1985A= (p.Glu662=)
9g.418116A>CCA372762173DOCK8c.3449A>C (p.Glu1150Ala)
n.270A>C
n.2537A>C
c.3749A>C (p.Glu1250Ala)
c.2150A>C (p.Glu717Ala)
c.3545A>C (p.Glu1182Ala)
n.5704A>C
c.3611A>C (p.Glu1204Ala)
c.1985A>C (p.Glu662Ala)
9g.418116A>GCA372762174DOCK8c.3449A>G (p.Glu1150Gly)
n.270A>G
n.2537A>G
c.3749A>G (p.Glu1250Gly)
c.2150A>G (p.Glu717Gly)
c.3545A>G (p.Glu1182Gly)
n.5704A>G
c.3611A>G (p.Glu1204Gly)
c.1985A>G (p.Glu662Gly)
 dbSNP
9g.418116A>TCA372762175DOCK8c.3449A>T (p.Glu1150Val)
n.270A>T
n.2537A>T
c.3749A>T (p.Glu1250Val)
c.2150A>T (p.Glu717Val)
c.3545A>T (p.Glu1182Val)
n.5704A>T
c.3611A>T (p.Glu1204Val)
c.1985A>T (p.Glu662Val)
9g.418117A=CA1826891861DOCK8c.3450A= (p.Glu1150=)
n.271A=
n.2538A=
c.3750A= (p.Glu1250=)
c.2151A= (p.Glu717=)
c.3546A= (p.Glu1182=)
n.5705A=
c.3612A= (p.Glu1204=)
c.1986A= (p.Glu662=)
9g.418117A>CCA372762177DOCK8c.3450A>C (p.Glu1150Asp)
n.271A>C
n.2538A>C
c.3750A>C (p.Glu1250Asp)
c.2151A>C (p.Glu717Asp)
c.3546A>C (p.Glu1182Asp)
n.5705A>C
c.3612A>C (p.Glu1204Asp)
c.1986A>C (p.Glu662Asp)
9g.418117A>GCA463692409DOCK8c.3450A>G (p.Glu1150=)
n.271A>G
n.2538A>G
c.3750A>G (p.Glu1250=)
c.2151A>G (p.Glu717=)
c.3546A>G (p.Glu1182=)
n.5705A>G
c.3612A>G (p.Glu1204=)
c.1986A>G (p.Glu662=)
 dbSNP gnomAD v3 gnomAD v4
9g.418117A>TCA372762176DOCK8c.3450A>T (p.Glu1150Asp)
n.271A>T
n.2538A>T
c.3750A>T (p.Glu1250Asp)
c.2151A>T (p.Glu717Asp)
c.3546A>T (p.Glu1182Asp)
n.5705A>T
c.3612A>T (p.Glu1204Asp)
c.1986A>T (p.Glu662Asp)
9g.418118G>ACA372762178DOCK8c.3451G>A (p.Gly1151Arg)
n.272G>A
n.2539G>A
c.3751G>A (p.Gly1251Arg)
c.2152G>A (p.Gly718Arg)
c.3547G>A (p.Gly1183Arg)
n.5706G>A
c.3613G>A (p.Gly1205Arg)
c.1987G>A (p.Gly663Arg)
9g.418118G>CCA372762179DOCK8c.3451G>C (p.Gly1151Arg)
n.272G>C
n.2539G>C
c.3751G>C (p.Gly1251Arg)
c.2152G>C (p.Gly718Arg)
c.3547G>C (p.Gly1183Arg)
n.5706G>C
c.3613G>C (p.Gly1205Arg)
c.1987G>C (p.Gly663Arg)
 COSMIC
9g.418118G>TCA372762180DOCK8c.3451G>T (p.Gly1151Ter)
n.272G>T
n.2539G>T
c.3751G>T (p.Gly1251Ter)
c.2152G>T (p.Gly718Ter)
c.3547G>T (p.Gly1183Ter)
n.5706G>T
c.3613G>T (p.Gly1205Ter)
c.1987G>T (p.Gly663Ter)
9g.418119G>ACA372762181DOCK8c.3452G>A (p.Gly1151Glu)
n.273G>A
n.2540G>A
c.3752G>A (p.Gly1251Glu)
c.2153G>A (p.Gly718Glu)
c.3548G>A (p.Gly1183Glu)
n.5707G>A
c.3614G>A (p.Gly1205Glu)
c.1988G>A (p.Gly663Glu)
9g.418119G>CCA372762182DOCK8c.3452G>C (p.Gly1151Ala)
n.273G>C
n.2540G>C
c.3752G>C (p.Gly1251Ala)
c.2153G>C (p.Gly718Ala)
c.3548G>C (p.Gly1183Ala)
n.5707G>C
c.3614G>C (p.Gly1205Ala)
c.1988G>C (p.Gly663Ala)
 ClinVar dbSNP
9g.418119G=CA1826891862DOCK8c.3452G= (p.Gly1151=)
n.273G=
n.2540G=
c.3752G= (p.Gly1251=)
c.2153G= (p.Gly718=)
c.3548G= (p.Gly1183=)
n.5707G=
c.3614G= (p.Gly1205=)
c.1988G= (p.Gly663=)
9g.418119G>TCA372762183DOCK8c.3452G>T (p.Gly1151Val)
n.273G>T
n.2540G>T
c.3752G>T (p.Gly1251Val)
c.2153G>T (p.Gly718Val)
c.3548G>T (p.Gly1183Val)
n.5707G>T
c.3614G>T (p.Gly1205Val)
c.1988G>T (p.Gly663Val)
 gnomAD v4
9g.418120A=CA1826891863DOCK8c.3453A= (p.Gly1151=)
n.274A=
n.2541A=
c.3753A= (p.Gly1251=)
c.2154A= (p.Gly718=)
c.3549A= (p.Gly1183=)
n.5708A=
c.3615A= (p.Gly1205=)
c.1989A= (p.Gly663=)
9g.418120A>CCA463692423DOCK8c.3453A>C (p.Gly1151=)
n.274A>C
n.2541A>C
c.3753A>C (p.Gly1251=)
c.2154A>C (p.Gly718=)
c.3549A>C (p.Gly1183=)
n.5708A>C
c.3615A>C (p.Gly1205=)
c.1989A>C (p.Gly663=)
9g.418120A>GCA4958815DOCK8c.3453A>G (p.Gly1151=)
n.274A>G
n.2541A>G
c.3753A>G (p.Gly1251=)
c.2154A>G (p.Gly718=)
c.3549A>G (p.Gly1183=)
n.5708A>G
c.3615A>G (p.Gly1205=)
c.1989A>G (p.Gly663=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418120A>TCA463692428DOCK8c.3453A>T (p.Gly1151=)
n.274A>T
n.2541A>T
c.3753A>T (p.Gly1251=)
c.2154A>T (p.Gly718=)
c.3549A>T (p.Gly1183=)
n.5708A>T
c.3615A>T (p.Gly1205=)
c.1989A>T (p.Gly663=)
9g.418121G>ACA372762184DOCK8c.3454G>A (p.Ala1152Thr)
n.275G>A
n.2542G>A
c.3754G>A (p.Ala1252Thr)
c.2155G>A (p.Ala719Thr)
c.3550G>A (p.Ala1184Thr)
n.5709G>A
c.3616G>A (p.Ala1206Thr)
c.1990G>A (p.Ala664Thr)
9g.418121G>CCA4958816DOCK8c.3454G>C (p.Ala1152Pro)
n.275G>C
n.2542G>C
c.3754G>C (p.Ala1252Pro)
c.2155G>C (p.Ala719Pro)
c.3550G>C (p.Ala1184Pro)
n.5709G>C
c.3616G>C (p.Ala1206Pro)
c.1990G>C (p.Ala664Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418121G=CA1826891864DOCK8c.3454G= (p.Ala1152=)
n.275G=
n.2542G=
c.3754G= (p.Ala1252=)
c.2155G= (p.Ala719=)
c.3550G= (p.Ala1184=)
n.5709G=
c.3616G= (p.Ala1206=)
c.1990G= (p.Ala664=)
9g.418121G>TCA372762185DOCK8c.3454G>T (p.Ala1152Ser)
n.275G>T
n.2542G>T
c.3754G>T (p.Ala1252Ser)
c.2155G>T (p.Ala719Ser)
c.3550G>T (p.Ala1184Ser)
n.5709G>T
c.3616G>T (p.Ala1206Ser)
c.1990G>T (p.Ala664Ser)
9g.418122C>ACA372762186DOCK8c.3455C>A (p.Ala1152Asp)
n.276C>A
n.2543C>A
c.3755C>A (p.Ala1252Asp)
c.2156C>A (p.Ala719Asp)
c.3551C>A (p.Ala1184Asp)
n.5710C>A
c.3617C>A (p.Ala1206Asp)
c.1991C>A (p.Ala664Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.418122C=CA1826891865DOCK8c.3455C= (p.Ala1152=)
n.276C=
n.2543C=
c.3755C= (p.Ala1252=)
c.2156C= (p.Ala719=)
c.3551C= (p.Ala1184=)
n.5710C=
c.3617C= (p.Ala1206=)
c.1991C= (p.Ala664=)
9g.418122C>GCA372762187DOCK8c.3455C>G (p.Ala1152Gly)
n.276C>G
n.2543C>G
c.3755C>G (p.Ala1252Gly)
c.2156C>G (p.Ala719Gly)
c.3551C>G (p.Ala1184Gly)
n.5710C>G
c.3617C>G (p.Ala1206Gly)
c.1991C>G (p.Ala664Gly)
9g.418122C>TCA372762188DOCK8c.3455C>T (p.Ala1152Val)
n.276C>T
n.2543C>T
c.3755C>T (p.Ala1252Val)
c.2156C>T (p.Ala719Val)
c.3551C>T (p.Ala1184Val)
n.5710C>T
c.3617C>T (p.Ala1206Val)
c.1991C>T (p.Ala664Val)
 dbSNP gnomAD v2 gnomAD v4
9g.418123C>ACA463692450DOCK8c.3456C>A (p.Ala1152=)
n.277C>A
n.2544C>A
c.3756C>A (p.Ala1252=)
c.2157C>A (p.Ala719=)
c.3552C>A (p.Ala1184=)
n.5711C>A
c.3618C>A (p.Ala1206=)
c.1992C>A (p.Ala664=)
9g.418123C=CA1826891866DOCK8c.3456C= (p.Ala1152=)
n.277C=
n.2544C=
c.3756C= (p.Ala1252=)
c.2157C= (p.Ala719=)
c.3552C= (p.Ala1184=)
n.5711C=
c.3618C= (p.Ala1206=)
c.1992C= (p.Ala664=)
9g.418123C>GCA463692447DOCK8c.3456C>G (p.Ala1152=)
n.277C>G
n.2544C>G
c.3756C>G (p.Ala1252=)
c.2157C>G (p.Ala719=)
c.3552C>G (p.Ala1184=)
n.5711C>G
c.3618C>G (p.Ala1206=)
c.1992C>G (p.Ala664=)
 gnomAD v4
9g.418123C>TCA4958817DOCK8c.3456C>T (p.Ala1152=)
n.277C>T
n.2544C>T
c.3756C>T (p.Ala1252=)
c.2157C>T (p.Ala719=)
c.3552C>T (p.Ala1184=)
n.5711C>T
c.3618C>T (p.Ala1206=)
c.1992C>T (p.Ala664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418124G>ACA372762193DOCK8c.3457G>A (p.Gly1153Ser)
n.278G>A
n.2545G>A
c.3757G>A (p.Gly1253Ser)
c.2158G>A (p.Gly720Ser)
c.3553G>A (p.Gly1185Ser)
n.5712G>A
c.3619G>A (p.Gly1207Ser)
c.1993G>A (p.Gly665Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.418124G>CCA372762192DOCK8c.3457G>C (p.Gly1153Arg)
n.278G>C
n.2545G>C
c.3757G>C (p.Gly1253Arg)
c.2158G>C (p.Gly720Arg)
c.3553G>C (p.Gly1185Arg)
n.5712G>C
c.3619G>C (p.Gly1207Arg)
c.1993G>C (p.Gly665Arg)
9g.418124G=CA1826891867DOCK8c.3457G= (p.Gly1153=)
n.278G=
n.2545G=
c.3757G= (p.Gly1253=)
c.2158G= (p.Gly720=)
c.3553G= (p.Gly1185=)
n.5712G=
c.3619G= (p.Gly1207=)
c.1993G= (p.Gly665=)
9g.418124G>TCA372762190DOCK8c.3457G>T (p.Gly1153Cys)
n.278G>T
n.2545G>T
c.3757G>T (p.Gly1253Cys)
c.2158G>T (p.Gly720Cys)
c.3553G>T (p.Gly1185Cys)
n.5712G>T
c.3619G>T (p.Gly1207Cys)
c.1993G>T (p.Gly665Cys)
 gnomAD v4
9g.418125G>ACA372762196DOCK8c.3458G>A (p.Gly1153Asp)
n.279G>A
n.2546G>A
c.3758G>A (p.Gly1253Asp)
c.2159G>A (p.Gly720Asp)
c.3554G>A (p.Gly1185Asp)
n.5713G>A
c.3620G>A (p.Gly1207Asp)
c.1994G>A (p.Gly665Asp)
9g.418125G>CCA372762197DOCK8c.3458G>C (p.Gly1153Ala)
n.279G>C
n.2546G>C
c.3758G>C (p.Gly1253Ala)
c.2159G>C (p.Gly720Ala)
c.3554G>C (p.Gly1185Ala)
n.5713G>C
c.3620G>C (p.Gly1207Ala)
c.1994G>C (p.Gly665Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.418125G=CA1826891868DOCK8c.3458G= (p.Gly1153=)
n.279G=
n.2546G=
c.3758G= (p.Gly1253=)
c.2159G= (p.Gly720=)
c.3554G= (p.Gly1185=)
n.5713G=
c.3620G= (p.Gly1207=)
c.1994G= (p.Gly665=)
9g.418125G>TCA4958818DOCK8c.3458G>T (p.Gly1153Val)
n.279G>T
n.2546G>T
c.3758G>T (p.Gly1253Val)
c.2159G>T (p.Gly720Val)
c.3554G>T (p.Gly1185Val)
n.5713G>T
c.3620G>T (p.Gly1207Val)
c.1994G>T (p.Gly665Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418126T>ACA463692468DOCK8c.3459T>A (p.Gly1153=)
n.280T>A
n.2547T>A
c.3759T>A (p.Gly1253=)
c.2160T>A (p.Gly720=)
c.3555T>A (p.Gly1185=)
n.5714T>A
c.3621T>A (p.Gly1207=)
c.1995T>A (p.Gly665=)
9g.418126T>CCA463692471DOCK8c.3459T>C (p.Gly1153=)
n.280T>C
n.2547T>C
c.3759T>C (p.Gly1253=)
c.2160T>C (p.Gly720=)
c.3555T>C (p.Gly1185=)
n.5714T>C
c.3621T>C (p.Gly1207=)
c.1995T>C (p.Gly665=)
9g.418126T>GCA463692474DOCK8c.3459T>G (p.Gly1153=)
n.280T>G
n.2547T>G
c.3759T>G (p.Gly1253=)
c.2160T>G (p.Gly720=)
c.3555T>G (p.Gly1185=)
n.5714T>G
c.3621T>G (p.Gly1207=)
c.1995T>G (p.Gly665=)
 dbSNP
9g.418126T=CA1826891869DOCK8c.3459T= (p.Gly1153=)
n.280T=
n.2547T=
c.3759T= (p.Gly1253=)
c.2160T= (p.Gly720=)
c.3555T= (p.Gly1185=)
n.5714T=
c.3621T= (p.Gly1207=)
c.1995T= (p.Gly665=)
9g.418127G>ACA372762200DOCK8c.3460G>A (p.Ala1154Thr)
n.281G>A
n.2548G>A
c.3760G>A (p.Ala1254Thr)
c.2161G>A (p.Ala721Thr)
c.3556G>A (p.Ala1186Thr)
n.5715G>A
c.3622G>A (p.Ala1208Thr)
c.1996G>A (p.Ala666Thr)
 ClinVar dbSNP gnomAD v4
9g.418127G>CCA372762202DOCK8c.3460G>C (p.Ala1154Pro)
n.281G>C
n.2548G>C
c.3760G>C (p.Ala1254Pro)
c.2161G>C (p.Ala721Pro)
c.3556G>C (p.Ala1186Pro)
n.5715G>C
c.3622G>C (p.Ala1208Pro)
c.1996G>C (p.Ala666Pro)
9g.418127G=CA1826891870DOCK8c.3460G= (p.Ala1154=)
n.281G=
n.2548G=
c.3760G= (p.Ala1254=)
c.2161G= (p.Ala721=)
c.3556G= (p.Ala1186=)
n.5715G=
c.3622G= (p.Ala1208=)
c.1996G= (p.Ala666=)
9g.418127G>TCA372762203DOCK8c.3460G>T (p.Ala1154Ser)
n.281G>T
n.2548G>T
c.3760G>T (p.Ala1254Ser)
c.2161G>T (p.Ala721Ser)
c.3556G>T (p.Ala1186Ser)
n.5715G>T
c.3622G>T (p.Ala1208Ser)
c.1996G>T (p.Ala666Ser)
 gnomAD v4
9g.418128C>ACA372762205DOCK8c.3461C>A (p.Ala1154Asp)
n.282C>A
n.2549C>A
c.3761C>A (p.Ala1254Asp)
c.2162C>A (p.Ala721Asp)
c.3557C>A (p.Ala1186Asp)
n.5716C>A
c.3623C>A (p.Ala1208Asp)
c.1997C>A (p.Ala666Asp)
9g.418128C=CA1826891871DOCK8c.3461C= (p.Ala1154=)
n.282C=
n.2549C=
c.3761C= (p.Ala1254=)
c.2162C= (p.Ala721=)
c.3557C= (p.Ala1186=)
n.5716C=
c.3623C= (p.Ala1208=)
c.1997C= (p.Ala666=)
9g.418128C>GCA372762207DOCK8c.3461C>G (p.Ala1154Gly)
n.282C>G
n.2549C>G
c.3761C>G (p.Ala1254Gly)
c.2162C>G (p.Ala721Gly)
c.3557C>G (p.Ala1186Gly)
n.5716C>G
c.3623C>G (p.Ala1208Gly)
c.1997C>G (p.Ala666Gly)
9g.418128C>TCA372762208DOCK8c.3461C>T (p.Ala1154Val)
n.282C>T
n.2549C>T
c.3761C>T (p.Ala1254Val)
c.2162C>T (p.Ala721Val)
c.3557C>T (p.Ala1186Val)
n.5716C>T
c.3623C>T (p.Ala1208Val)
c.1997C>T (p.Ala666Val)
 dbSNP gnomAD v3 gnomAD v4
9g.418129C>ACA463692492DOCK8c.3462C>A (p.Ala1154=)
n.283C>A
n.2550C>A
c.3762C>A (p.Ala1254=)
c.2163C>A (p.Ala721=)
c.3558C>A (p.Ala1186=)
n.5717C>A
c.3624C>A (p.Ala1208=)
c.1998C>A (p.Ala666=)
9g.418129C=CA1826891872DOCK8c.3462C= (p.Ala1154=)
n.283C=
n.2550C=
c.3762C= (p.Ala1254=)
c.2163C= (p.Ala721=)
c.3558C= (p.Ala1186=)
n.5717C=
c.3624C= (p.Ala1208=)
c.1998C= (p.Ala666=)
9g.418129C>GCA463692497DOCK8c.3462C>G (p.Ala1154=)
n.283C>G
n.2550C>G
c.3762C>G (p.Ala1254=)
c.2163C>G (p.Ala721=)
c.3558C>G (p.Ala1186=)
n.5717C>G
c.3624C>G (p.Ala1208=)
c.1998C>G (p.Ala666=)
9g.418129C>TCA4958819DOCK8c.3462C>T (p.Ala1154=)
n.283C>T
n.2550C>T
c.3762C>T (p.Ala1254=)
c.2163C>T (p.Ala721=)
c.3558C>T (p.Ala1186=)
n.5717C>T
c.3624C>T (p.Ala1208=)
c.1998C>T (p.Ala666=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418130A=CA1826891873DOCK8c.3463A= (p.Ile1155=)
n.284A=
n.2551A=
c.3763A= (p.Ile1255=)
c.2164A= (p.Ile722=)
c.3559A= (p.Ile1187=)
n.5718A=
c.3625A= (p.Ile1209=)
c.1999A= (p.Ile667=)
9g.418130A>CCA372762210DOCK8c.3463A>C (p.Ile1155Leu)
n.284A>C
n.2551A>C
c.3763A>C (p.Ile1255Leu)
c.2164A>C (p.Ile722Leu)
c.3559A>C (p.Ile1187Leu)
n.5718A>C
c.3625A>C (p.Ile1209Leu)
c.1999A>C (p.Ile667Leu)
9g.418130A>GCA372762212DOCK8c.3463A>G (p.Ile1155Val)
n.284A>G
n.2551A>G
c.3763A>G (p.Ile1255Val)
c.2164A>G (p.Ile722Val)
c.3559A>G (p.Ile1187Val)
n.5718A>G
c.3625A>G (p.Ile1209Val)
c.1999A>G (p.Ile667Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.418130A>TCA372762214DOCK8c.3463A>T (p.Ile1155Phe)
n.284A>T
n.2551A>T
c.3763A>T (p.Ile1255Phe)
c.2164A>T (p.Ile722Phe)
c.3559A>T (p.Ile1187Phe)
n.5718A>T
c.3625A>T (p.Ile1209Phe)
c.1999A>T (p.Ile667Phe)
9g.418131T>ACA372762215DOCK8c.3464T>A (p.Ile1155Asn)
n.285T>A
n.2552T>A
c.3764T>A (p.Ile1255Asn)
c.2165T>A (p.Ile722Asn)
c.3560T>A (p.Ile1187Asn)
n.5719T>A
c.3626T>A (p.Ile1209Asn)
c.2000T>A (p.Ile667Asn)
9g.418131T>CCA372762217DOCK8c.3464T>C (p.Ile1155Thr)
n.285T>C
n.2552T>C
c.3764T>C (p.Ile1255Thr)
c.2165T>C (p.Ile722Thr)
c.3560T>C (p.Ile1187Thr)
n.5719T>C
c.3626T>C (p.Ile1209Thr)
c.2000T>C (p.Ile667Thr)
9g.418131T>GCA372762219DOCK8c.3464T>G (p.Ile1155Ser)
n.285T>G
n.2552T>G
c.3764T>G (p.Ile1255Ser)
c.2165T>G (p.Ile722Ser)
c.3560T>G (p.Ile1187Ser)
n.5719T>G
c.3626T>G (p.Ile1209Ser)
c.2000T>G (p.Ile667Ser)
 dbSNP
9g.418131T=CA1826891874DOCK8c.3464T= (p.Ile1155=)
n.285T=
n.2552T=
c.3764T= (p.Ile1255=)
c.2165T= (p.Ile722=)
c.3560T= (p.Ile1187=)
n.5719T=
c.3626T= (p.Ile1209=)
c.2000T= (p.Ile667=)
9g.418132T>ACA463692515DOCK8c.3465T>A (p.Ile1155=)
n.286T>A
n.2553T>A
c.3765T>A (p.Ile1255=)
c.2166T>A (p.Ile722=)
c.3561T>A (p.Ile1187=)
n.5720T>A
c.3627T>A (p.Ile1209=)
c.2001T>A (p.Ile667=)
9g.418132T>CCA463692518DOCK8c.3465T>C (p.Ile1155=)
n.286T>C
n.2553T>C
c.3765T>C (p.Ile1255=)
c.2166T>C (p.Ile722=)
c.3561T>C (p.Ile1187=)
n.5720T>C
c.3627T>C (p.Ile1209=)
c.2001T>C (p.Ile667=)
 gnomAD v4
9g.418132T>GCA372762221DOCK8c.3465T>G (p.Ile1155Met)
n.286T>G
n.2553T>G
c.3765T>G (p.Ile1255Met)
c.2166T>G (p.Ile722Met)
c.3561T>G (p.Ile1187Met)
n.5720T>G
c.3627T>G (p.Ile1209Met)
c.2001T>G (p.Ile667Met)
9g.418133A>CCA372762223DOCK8c.3466A>C (p.Asn1156His)
n.287A>C
n.2554A>C
c.3766A>C (p.Asn1256His)
c.2167A>C (p.Asn723His)
c.3562A>C (p.Asn1188His)
n.5721A>C
c.3628A>C (p.Asn1210His)
c.2002A>C (p.Asn668His)
 gnomAD v4
9g.418133A>GCA372762225DOCK8c.3466A>G (p.Asn1156Asp)
n.287A>G
n.2554A>G
c.3766A>G (p.Asn1256Asp)
c.2167A>G (p.Asn723Asp)
c.3562A>G (p.Asn1188Asp)
n.5721A>G
c.3628A>G (p.Asn1210Asp)
c.2002A>G (p.Asn668Asp)
9g.418133A>TCA372762226DOCK8c.3466A>T (p.Asn1156Tyr)
n.287A>T
n.2554A>T
c.3766A>T (p.Asn1256Tyr)
c.2167A>T (p.Asn723Tyr)
c.3562A>T (p.Asn1188Tyr)
n.5721A>T
c.3628A>T (p.Asn1210Tyr)
c.2002A>T (p.Asn668Tyr)
9g.418134A>CCA372762229DOCK8c.3467A>C (p.Asn1156Thr)
n.288A>C
n.2555A>C
c.3767A>C (p.Asn1256Thr)
c.2168A>C (p.Asn723Thr)
c.3563A>C (p.Asn1188Thr)
n.5722A>C
c.3629A>C (p.Asn1210Thr)
c.2003A>C (p.Asn668Thr)
9g.418134A>GCA372762231DOCK8c.3467A>G (p.Asn1156Ser)
n.288A>G
n.2555A>G
c.3767A>G (p.Asn1256Ser)
c.2168A>G (p.Asn723Ser)
c.3563A>G (p.Asn1188Ser)
n.5722A>G
c.3629A>G (p.Asn1210Ser)
c.2003A>G (p.Asn668Ser)
9g.418134A>TCA372762233DOCK8c.3467A>T (p.Asn1156Ile)
n.288A>T
n.2555A>T
c.3767A>T (p.Asn1256Ile)
c.2168A>T (p.Asn723Ile)
c.3563A>T (p.Asn1188Ile)
n.5722A>T
c.3629A>T (p.Asn1210Ile)
c.2003A>T (p.Asn668Ile)
9g.418135C>ACA372762235DOCK8c.3468C>A (p.Asn1156Lys)
n.289C>A
n.2556C>A
c.3768C>A (p.Asn1256Lys)
c.2169C>A (p.Asn723Lys)
c.3564C>A (p.Asn1188Lys)
n.5723C>A
c.3630C>A (p.Asn1210Lys)
c.2004C>A (p.Asn668Lys)
9g.418135C=CA1826891875DOCK8c.3468C= (p.Asn1156=)
n.289C=
n.2556C=
c.3768C= (p.Asn1256=)
c.2169C= (p.Asn723=)
c.3564C= (p.Asn1188=)
n.5723C=
c.3630C= (p.Asn1210=)
c.2004C= (p.Asn668=)
9g.418135C>GCA372762236DOCK8c.3468C>G (p.Asn1156Lys)
n.289C>G
n.2556C>G
c.3768C>G (p.Asn1256Lys)
c.2169C>G (p.Asn723Lys)
c.3564C>G (p.Asn1188Lys)
n.5723C>G
c.3630C>G (p.Asn1210Lys)
c.2004C>G (p.Asn668Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.418135C>TCA4958820DOCK8c.3468C>T (p.Asn1156=)
n.289C>T
n.2556C>T
c.3768C>T (p.Asn1256=)
c.2169C>T (p.Asn723=)
c.3564C>T (p.Asn1188=)
n.5723C>T
c.3630C>T (p.Asn1210=)
c.2004C>T (p.Asn668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.418136C>ACA372762240DOCK8c.3469C>A (p.Gln1157Lys)
n.290C>A
n.2557C>A
c.3769C>A (p.Gln1257Lys)
c.2170C>A (p.Gln724Lys)
c.3565C>A (p.Gln1189Lys)
n.5724C>A
c.3631C>A (p.Gln1211Lys)
c.2005C>A (p.Gln669Lys)
9g.418136C=CA1826891876DOCK8c.3469C= (p.Gln1157=)
n.290C=
n.2557C=
c.3769C= (p.Gln1257=)
c.2170C= (p.Gln724=)
c.3565C= (p.Gln1189=)
n.5724C=
c.3631C= (p.Gln1211=)
c.2005C= (p.Gln669=)
9g.418136C>GCA372762241DOCK8c.3469C>G (p.Gln1157Glu)
n.290C>G
n.2557C>G
c.3769C>G (p.Gln1257Glu)
c.2170C>G (p.Gln724Glu)
c.3565C>G (p.Gln1189Glu)
n.5724C>G
c.3631C>G (p.Gln1211Glu)
c.2005C>G (p.Gln669Glu)
 ClinVar dbSNP
9g.418136C>TCA372762243DOCK8c.3469C>T (p.Gln1157Ter)
n.290C>T
n.2557C>T
c.3769C>T (p.Gln1257Ter)
c.2170C>T (p.Gln724Ter)
c.3565C>T (p.Gln1189Ter)
n.5724C>T
c.3631C>T (p.Gln1211Ter)
c.2005C>T (p.Gln669Ter)
9g.418137A>CCA372762247DOCK8c.3470A>C (p.Gln1157Pro)
n.291A>C
n.2558A>C
c.3770A>C (p.Gln1257Pro)
c.2171A>C (p.Gln724Pro)
c.3566A>C (p.Gln1189Pro)
n.5725A>C
c.3632A>C (p.Gln1211Pro)
c.2006A>C (p.Gln669Pro)
9g.418137A>GCA372762246DOCK8c.3470A>G (p.Gln1157Arg)
n.291A>G
n.2558A>G
c.3770A>G (p.Gln1257Arg)
c.2171A>G (p.Gln724Arg)
c.3566A>G (p.Gln1189Arg)
n.5725A>G
c.3632A>G (p.Gln1211Arg)
c.2006A>G (p.Gln669Arg)
 gnomAD v4
9g.418137A>TCA372762245DOCK8c.3470A>T (p.Gln1157Leu)
n.291A>T
n.2558A>T
c.3770A>T (p.Gln1257Leu)
c.2171A>T (p.Gln724Leu)
c.3566A>T (p.Gln1189Leu)
n.5725A>T
c.3632A>T (p.Gln1211Leu)
c.2006A>T (p.Gln669Leu)
9g.418138G>ACA463692557DOCK8c.3471G>A (p.Gln1157=)
n.292G>A
n.2559G>A
c.3771G>A (p.Gln1257=)
c.2172G>A (p.Gln724=)
c.3567G>A (p.Gln1189=)
n.5726G>A
c.3633G>A (p.Gln1211=)
c.2007G>A (p.Gln669=)
9g.418138G>CCA372762249DOCK8c.3471G>C (p.Gln1157His)
n.292G>C
n.2559G>C
c.3771G>C (p.Gln1257His)
c.2172G>C (p.Gln724His)
c.3567G>C (p.Gln1189His)
n.5726G>C
c.3633G>C (p.Gln1211His)
c.2007G>C (p.Gln669His)
 dbSNP gnomAD v4
9g.418138G=CA1826891877DOCK8c.3471G= (p.Gln1157=)
n.292G=
n.2559G=
c.3771G= (p.Gln1257=)
c.2172G= (p.Gln724=)
c.3567G= (p.Gln1189=)
n.5726G=
c.3633G= (p.Gln1211=)
c.2007G= (p.Gln669=)
9g.418138G>TCA372762248DOCK8c.3471G>T (p.Gln1157His)
n.292G>T
n.2559G>T
c.3771G>T (p.Gln1257His)
c.2172G>T (p.Gln724His)
c.3567G>T (p.Gln1189His)
n.5726G>T
c.3633G>T (p.Gln1211His)
c.2007G>T (p.Gln669His)
9g.418139A>CCA372762251DOCK8c.3472A>C (p.Asn1158His)
n.293A>C
n.2560A>C
c.3772A>C (p.Asn1258His)
c.2173A>C (p.Asn725His)
c.3568A>C (p.Asn1190His)
n.5727A>C
c.3634A>C (p.Asn1212His)
c.2008A>C (p.Asn670His)
 gnomAD v4
9g.418139A>GCA372762253DOCK8c.3472A>G (p.Asn1158Asp)
n.293A>G
n.2560A>G
c.3772A>G (p.Asn1258Asp)
c.2173A>G (p.Asn725Asp)
c.3568A>G (p.Asn1190Asp)
n.5727A>G
c.3634A>G (p.Asn1212Asp)
c.2008A>G (p.Asn670Asp)
9g.418139A>TCA372762254DOCK8c.3472A>T (p.Asn1158Tyr)
n.293A>T
n.2560A>T
c.3772A>T (p.Asn1258Tyr)
c.2173A>T (p.Asn725Tyr)
c.3568A>T (p.Asn1190Tyr)
n.5727A>T
c.3634A>T (p.Asn1212Tyr)
c.2008A>T (p.Asn670Tyr)
9g.418140delCA2689206994DOCK8c.3473del (p.Asn1158MetfsTer6)
n.294del
n.2561del
c.3773del (p.Asn1258MetfsTer6)
c.2174del (p.Asn725MetfsTer6)
c.3569del (p.Asn1190MetfsTer6)
n.5728del
c.3635del (p.Asn1212MetfsTer6)
c.2009del (p.Asn670MetfsTer6)
 gnomAD v4
9g.418140A>CCA372762257DOCK8c.3473A>C (p.Asn1158Thr)
n.294A>C
n.2561A>C
c.3773A>C (p.Asn1258Thr)
c.2174A>C (p.Asn725Thr)
c.3569A>C (p.Asn1190Thr)
n.5728A>C
c.3635A>C (p.Asn1212Thr)
c.2009A>C (p.Asn670Thr)
9g.418140A>GCA372762258DOCK8c.3473A>G (p.Asn1158Ser)
n.294A>G
n.2561A>G
c.3773A>G (p.Asn1258Ser)
c.2174A>G (p.Asn725Ser)
c.3569A>G (p.Asn1190Ser)
n.5728A>G
c.3635A>G (p.Asn1212Ser)
c.2009A>G (p.Asn670Ser)
9g.418140A>TCA372762260DOCK8c.3473A>T (p.Asn1158Ile)
n.294A>T
n.2561A>T
c.3773A>T (p.Asn1258Ile)
c.2174A>T (p.Asn725Ile)
c.3569A>T (p.Asn1190Ile)
n.5728A>T
c.3635A>T (p.Asn1212Ile)
c.2009A>T (p.Asn670Ile)
9g.418141T>ACA372762263DOCK8c.3474T>A (p.Asn1158Lys)
n.295T>A
n.2562T>A
c.3774T>A (p.Asn1258Lys)
c.2175T>A (p.Asn725Lys)
c.3570T>A (p.Asn1190Lys)
n.5729T>A
c.3636T>A (p.Asn1212Lys)
c.2010T>A (p.Asn670Lys)
9g.418141T>CCA463692577DOCK8c.3474T>C (p.Asn1158=)
n.295T>C
n.2562T>C
c.3774T>C (p.Asn1258=)
c.2175T>C (p.Asn725=)
c.3570T>C (p.Asn1190=)
n.5729T>C
c.3636T>C (p.Asn1212=)
c.2010T>C (p.Asn670=)
9g.418141T>GCA4958821DOCK8c.3474T>G (p.Asn1158Lys)
n.295T>G
n.2562T>G
c.3774T>G (p.Asn1258Lys)
c.2175T>G (p.Asn725Lys)
c.3570T>G (p.Asn1190Lys)
n.5729T>G
c.3636T>G (p.Asn1212Lys)
c.2010T>G (p.Asn670Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418141T=CA1826891878DOCK8c.3474T= (p.Asn1158=)
n.295T=
n.2562T=
c.3774T= (p.Asn1258=)
c.2175T= (p.Asn725=)
c.3570T= (p.Asn1190=)
n.5729T=
c.3636T= (p.Asn1212=)
c.2010T= (p.Asn670=)
9g.418142G>ACA372762265DOCK8c.3475G>A (p.Val1159Met)
n.296G>A
n.2563G>A
c.3775G>A (p.Val1259Met)
c.2176G>A (p.Val726Met)
c.3571G>A (p.Val1191Met)
n.5730G>A
c.3637G>A (p.Val1213Met)
c.2011G>A (p.Val671Met)
 gnomAD v4
9g.418142G>CCA372762267DOCK8c.3475G>C (p.Val1159Leu)
n.296G>C
n.2563G>C
c.3775G>C (p.Val1259Leu)
c.2176G>C (p.Val726Leu)
c.3571G>C (p.Val1191Leu)
n.5730G>C
c.3637G>C (p.Val1213Leu)
c.2011G>C (p.Val671Leu)
9g.418142G>TCA372762269DOCK8c.3475G>T (p.Val1159Leu)
n.296G>T
n.2563G>T
c.3775G>T (p.Val1259Leu)
c.2176G>T (p.Val726Leu)
c.3571G>T (p.Val1191Leu)
n.5730G>T
c.3637G>T (p.Val1213Leu)
c.2011G>T (p.Val671Leu)
9g.418143T>ACA372762273DOCK8c.3476T>A (p.Val1159Glu)
n.297T>A
n.2564T>A
c.3776T>A (p.Val1259Glu)
c.2177T>A (p.Val726Glu)
c.3572T>A (p.Val1191Glu)
n.5731T>A
c.3638T>A (p.Val1213Glu)
c.2012T>A (p.Val671Glu)
9g.418143T>CCA372762275DOCK8c.3476T>C (p.Val1159Ala)
n.297T>C
n.2564T>C
c.3776T>C (p.Val1259Ala)
c.2177T>C (p.Val726Ala)
c.3572T>C (p.Val1191Ala)
n.5731T>C
c.3638T>C (p.Val1213Ala)
c.2012T>C (p.Val671Ala)
9g.418143T>GCA372762271DOCK8c.3476T>G (p.Val1159Gly)
n.297T>G
n.2564T>G
c.3776T>G (p.Val1259Gly)
c.2177T>G (p.Val726Gly)
c.3572T>G (p.Val1191Gly)
n.5731T>G
c.3638T>G (p.Val1213Gly)
c.2012T>G (p.Val671Gly)
 dbSNP
9g.418143T=CA1826891879DOCK8c.3476T= (p.Val1159=)
n.297T=
n.2564T=
c.3776T= (p.Val1259=)
c.2177T= (p.Val726=)
c.3572T= (p.Val1191=)
n.5731T=
c.3638T= (p.Val1213=)
c.2012T= (p.Val671=)
9g.418144G>ACA463692600DOCK8c.3477G>A (p.Val1159=)
n.298G>A
n.2565G>A
c.3777G>A (p.Val1259=)
c.2178G>A (p.Val726=)
c.3573G>A (p.Val1191=)
n.5732G>A
c.3639G>A (p.Val1213=)
c.2013G>A (p.Val671=)
9g.418144G>CCA463692596DOCK8c.3477G>C (p.Val1159=)
n.298G>C
n.2565G>C
c.3777G>C (p.Val1259=)
c.2178G>C (p.Val726=)
c.3573G>C (p.Val1191=)
n.5732G>C
c.3639G>C (p.Val1213=)
c.2013G>C (p.Val671=)
9g.418144G=CA1826891880DOCK8c.3477G= (p.Val1159=)
n.298G=
n.2565G=
c.3777G= (p.Val1259=)
c.2178G= (p.Val726=)
c.3573G= (p.Val1191=)
n.5732G=
c.3639G= (p.Val1213=)
c.2013G= (p.Val671=)
9g.418144G>TCA463692598DOCK8c.3477G>T (p.Val1159=)
n.298G>T
n.2565G>T
c.3777G>T (p.Val1259=)
c.2178G>T (p.Val726=)
c.3573G>T (p.Val1191=)
n.5732G>T
c.3639G>T (p.Val1213=)
c.2013G>T (p.Val671=)
 dbSNP
9g.418145G>ACA372762277DOCK8c.3478G>A (p.Ala1160Thr)
n.299G>A
n.2566G>A
c.3778G>A (p.Ala1260Thr)
c.2179G>A (p.Ala727Thr)
c.3574G>A (p.Ala1192Thr)
n.5733G>A
c.3640G>A (p.Ala1214Thr)
c.2014G>A (p.Ala672Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.418145G>CCA372762279DOCK8c.3478G>C (p.Ala1160Pro)
n.299G>C
n.2566G>C
c.3778G>C (p.Ala1260Pro)
c.2179G>C (p.Ala727Pro)
c.3574G>C (p.Ala1192Pro)
n.5733G>C
c.3640G>C (p.Ala1214Pro)
c.2014G>C (p.Ala672Pro)
 dbSNP
9g.418145G=CA1826891881DOCK8c.3478G= (p.Ala1160=)
n.299G=
n.2566G=
c.3778G= (p.Ala1260=)
c.2179G= (p.Ala727=)
c.3574G= (p.Ala1192=)
n.5733G=
c.3640G= (p.Ala1214=)
c.2014G= (p.Ala672=)
9g.418145G>TCA372762281DOCK8c.3478G>T (p.Ala1160Ser)
n.299G>T
n.2566G>T
c.3778G>T (p.Ala1260Ser)
c.2179G>T (p.Ala727Ser)
c.3574G>T (p.Ala1192Ser)
n.5733G>T
c.3640G>T (p.Ala1214Ser)
c.2014G>T (p.Ala672Ser)
 ClinVar gnomAD v4
9g.418146C>ACA372762283DOCK8c.3479C>A (p.Ala1160Asp)
n.300C>A
n.2567C>A
c.3779C>A (p.Ala1260Asp)
c.2180C>A (p.Ala727Asp)
c.3575C>A (p.Ala1192Asp)
n.5734C>A
c.3641C>A (p.Ala1214Asp)
c.2015C>A (p.Ala672Asp)
9g.418146C=CA1826891882DOCK8c.3479C= (p.Ala1160=)
n.300C=
n.2567C=
c.3779C= (p.Ala1260=)
c.2180C= (p.Ala727=)
c.3575C= (p.Ala1192=)
n.5734C=
c.3641C= (p.Ala1214=)
c.2015C= (p.Ala672=)
9g.418146C>GCA372762284DOCK8c.3479C>G (p.Ala1160Gly)
n.300C>G
n.2567C>G
c.3779C>G (p.Ala1260Gly)
c.2180C>G (p.Ala727Gly)
c.3575C>G (p.Ala1192Gly)
n.5734C>G
c.3641C>G (p.Ala1214Gly)
c.2015C>G (p.Ala672Gly)
 dbSNP gnomAD v4
9g.418146C>TCA372762287DOCK8c.3479C>T (p.Ala1160Val)
n.300C>T
n.2567C>T
c.3779C>T (p.Ala1260Val)
c.2180C>T (p.Ala727Val)
c.3575C>T (p.Ala1192Val)
n.5734C>T
c.3641C>T (p.Ala1214Val)
c.2015C>T (p.Ala672Val)
 dbSNP gnomAD v3 gnomAD v4
9g.418147T>ACA463692608DOCK8c.3480T>A (p.Ala1160=)
n.301T>A
n.2568T>A
c.3780T>A (p.Ala1260=)
c.2181T>A (p.Ala727=)
c.3576T>A (p.Ala1192=)
n.5735T>A
c.3642T>A (p.Ala1214=)
c.2016T>A (p.Ala672=)
9g.418147T>CCA463692610DOCK8c.3480T>C (p.Ala1160=)
n.301T>C
n.2568T>C
c.3780T>C (p.Ala1260=)
c.2181T>C (p.Ala727=)
c.3576T>C (p.Ala1192=)
n.5735T>C
c.3642T>C (p.Ala1214=)
c.2016T>C (p.Ala672=)
9g.418147T>GCA463692614DOCK8c.3480T>G (p.Ala1160=)
n.301T>G
n.2568T>G
c.3780T>G (p.Ala1260=)
c.2181T>G (p.Ala727=)
c.3576T>G (p.Ala1192=)
n.5735T>G
c.3642T>G (p.Ala1214=)
c.2016T>G (p.Ala672=)
9g.418148C>ACA372762289DOCK8c.3481C>A (p.Leu1161Met)
n.302C>A
n.2569C>A
c.3781C>A (p.Leu1261Met)
c.2182C>A (p.Leu728Met)
c.3577C>A (p.Leu1193Met)
n.5736C>A
c.3643C>A (p.Leu1215Met)
c.2017C>A (p.Leu673Met)
9g.418148C=CA1826891883DOCK8c.3481C= (p.Leu1161=)
n.302C=
n.2569C=
c.3781C= (p.Leu1261=)
c.2182C= (p.Leu728=)
c.3577C= (p.Leu1193=)
n.5736C=
c.3643C= (p.Leu1215=)
c.2017C= (p.Leu673=)
9g.418148C>GCA187781890DOCK8c.3481C>G (p.Leu1161Val)
n.302C>G
n.2569C>G
c.3781C>G (p.Leu1261Val)
c.2182C>G (p.Leu728Val)
c.3577C>G (p.Leu1193Val)
n.5736C>G
c.3643C>G (p.Leu1215Val)
c.2017C>G (p.Leu673Val)
 dbSNP
9g.418148C>TCA463692624DOCK8c.3481C>T (p.Leu1161=)
n.302C>T
n.2569C>T
c.3781C>T (p.Leu1261=)
c.2182C>T (p.Leu728=)
c.3577C>T (p.Leu1193=)
n.5736C>T
c.3643C>T (p.Leu1215=)
c.2017C>T (p.Leu673=)
 gnomAD v4
9g.418149T>ACA372762292DOCK8c.3482T>A (p.Leu1161Gln)
n.303T>A
n.2570T>A
c.3782T>A (p.Leu1261Gln)
c.2183T>A (p.Leu728Gln)
c.3578T>A (p.Leu1193Gln)
n.5737T>A
c.3644T>A (p.Leu1215Gln)
c.2018T>A (p.Leu673Gln)
9g.418149T>CCA372762294DOCK8c.3482T>C (p.Leu1161Pro)
n.303T>C
n.2570T>C
c.3782T>C (p.Leu1261Pro)
c.2183T>C (p.Leu728Pro)
c.3578T>C (p.Leu1193Pro)
n.5737T>C
c.3644T>C (p.Leu1215Pro)
c.2018T>C (p.Leu673Pro)
9g.418149T>GCA372762296DOCK8c.3482T>G (p.Leu1161Arg)
n.303T>G
n.2570T>G
c.3782T>G (p.Leu1261Arg)
c.2183T>G (p.Leu728Arg)
c.3578T>G (p.Leu1193Arg)
n.5737T>G
c.3644T>G (p.Leu1215Arg)
c.2018T>G (p.Leu673Arg)
9g.418150G>ACA463692635DOCK8c.3483G>A (p.Leu1161=)
n.304G>A
n.2571G>A
c.3783G>A (p.Leu1261=)
c.2184G>A (p.Leu728=)
c.3579G>A (p.Leu1193=)
n.5738G>A
c.3645G>A (p.Leu1215=)
c.2019G>A (p.Leu673=)
9g.418150G>CCA463692639DOCK8c.3483G>C (p.Leu1161=)
n.304G>C
n.2571G>C
c.3783G>C (p.Leu1261=)
c.2184G>C (p.Leu728=)
c.3579G>C (p.Leu1193=)
n.5738G>C
c.3645G>C (p.Leu1215=)
c.2019G>C (p.Leu673=)
9g.418150G>TCA463692641DOCK8c.3483G>T (p.Leu1161=)
n.304G>T
n.2571G>T
c.3783G>T (p.Leu1261=)
c.2184G>T (p.Leu728=)
c.3579G>T (p.Leu1193=)
n.5738G>T
c.3645G>T (p.Leu1215=)
c.2019G>T (p.Leu673=)
 COSMIC COSMIC
9g.418151G>ACA372762298DOCK8c.3484G>A (p.Ala1162Thr)
n.305G>A
n.2572G>A
c.3784G>A (p.Ala1262Thr)
c.2185G>A (p.Ala729Thr)
c.3580G>A (p.Ala1194Thr)
n.5739G>A
c.3646G>A (p.Ala1216Thr)
c.2020G>A (p.Ala674Thr)
9g.418151G>CCA372762300DOCK8c.3484G>C (p.Ala1162Pro)
n.305G>C
n.2572G>C
c.3784G>C (p.Ala1262Pro)
c.2185G>C (p.Ala729Pro)
c.3580G>C (p.Ala1194Pro)
n.5739G>C
c.3646G>C (p.Ala1216Pro)
c.2020G>C (p.Ala674Pro)
9g.418151G>TCA372762302DOCK8c.3484G>T (p.Ala1162Ser)
n.305G>T
n.2572G>T
c.3784G>T (p.Ala1262Ser)
c.2185G>T (p.Ala729Ser)
c.3580G>T (p.Ala1194Ser)
n.5739G>T
c.3646G>T (p.Ala1216Ser)
c.2020G>T (p.Ala674Ser)
 ClinVar
9g.418152C>ACA372762307DOCK8c.3485C>A (p.Ala1162Asp)
n.306C>A
n.2573C>A
c.3785C>A (p.Ala1262Asp)
c.2186C>A (p.Ala729Asp)
c.3581C>A (p.Ala1194Asp)
n.5740C>A
c.3647C>A (p.Ala1216Asp)
c.2021C>A (p.Ala674Asp)
9g.418152C=CA1826891884DOCK8c.3485C= (p.Ala1162=)
n.306C=
n.2573C=
c.3785C= (p.Ala1262=)
c.2186C= (p.Ala729=)
c.3581C= (p.Ala1194=)
n.5740C=
c.3647C= (p.Ala1216=)
c.2021C= (p.Ala674=)
9g.418152C>GCA372762305DOCK8c.3485C>G (p.Ala1162Gly)
n.306C>G
n.2573C>G
c.3785C>G (p.Ala1262Gly)
c.2186C>G (p.Ala729Gly)
c.3581C>G (p.Ala1194Gly)
n.5740C>G
c.3647C>G (p.Ala1216Gly)
c.2021C>G (p.Ala674Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.418152C>TCA4958822DOCK8c.3485C>T (p.Ala1162Val)
n.306C>T
n.2573C>T
c.3785C>T (p.Ala1262Val)
c.2186C>T (p.Ala729Val)
c.3581C>T (p.Ala1194Val)
n.5740C>T
c.3647C>T (p.Ala1216Val)
c.2021C>T (p.Ala674Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418153C>ACA463692658DOCK8c.3486C>A (p.Ala1162=)
n.307C>A
n.2574C>A
c.3786C>A (p.Ala1262=)
c.2187C>A (p.Ala729=)
c.3582C>A (p.Ala1194=)
n.5741C>A
c.3648C>A (p.Ala1216=)
c.2022C>A (p.Ala674=)
9g.418153C>GCA463692661DOCK8c.3486C>G (p.Ala1162=)
n.307C>G
n.2574C>G
c.3786C>G (p.Ala1262=)
c.2187C>G (p.Ala729=)
c.3582C>G (p.Ala1194=)
n.5741C>G
c.3648C>G (p.Ala1216=)
c.2022C>G (p.Ala674=)
9g.418153C>TCA463692664DOCK8c.3486C>T (p.Ala1162=)
n.307C>T
n.2574C>T
c.3786C>T (p.Ala1262=)
c.2187C>T (p.Ala729=)
c.3582C>T (p.Ala1194=)
n.5741C>T
c.3648C>T (p.Ala1216=)
c.2022C>T (p.Ala674=)
9g.418154delCA2695210413DOCK8c.3487del (p.Ile1163Ter)
n.308del
n.2575del
c.3787del (p.Ile1263Ter)
c.2188del (p.Ile730Ter)
c.3583del (p.Ile1195Ter)
n.5742del
c.3649del (p.Ile1217Ter)
c.2023del (p.Ile675Ter)
9g.418154A=CA1826891885DOCK8c.3487A= (p.Ile1163=)
n.308A=
n.2575A=
c.3787A= (p.Ile1263=)
c.2188A= (p.Ile730=)
c.3583A= (p.Ile1195=)
n.5742A=
c.3649A= (p.Ile1217=)
c.2023A= (p.Ile675=)
9g.418154A>CCA372762308DOCK8c.3487A>C (p.Ile1163Leu)
n.308A>C
n.2575A>C
c.3787A>C (p.Ile1263Leu)
c.2188A>C (p.Ile730Leu)
c.3583A>C (p.Ile1195Leu)
n.5742A>C
c.3649A>C (p.Ile1217Leu)
c.2023A>C (p.Ile675Leu)
9g.418154A>GCA4958823DOCK8c.3487A>G (p.Ile1163Val)
n.308A>G
n.2575A>G
c.3787A>G (p.Ile1263Val)
c.2188A>G (p.Ile730Val)
c.3583A>G (p.Ile1195Val)
n.5742A>G
c.3649A>G (p.Ile1217Val)
c.2023A>G (p.Ile675Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418154A>TCA372762309DOCK8c.3487A>T (p.Ile1163Leu)
n.308A>T
n.2575A>T
c.3787A>T (p.Ile1263Leu)
c.2188A>T (p.Ile730Leu)
c.3583A>T (p.Ile1195Leu)
n.5742A>T
c.3649A>T (p.Ile1217Leu)
c.2023A>T (p.Ile675Leu)
9g.418155T>ACA372762310DOCK8c.3488T>A (p.Ile1163Lys)
n.309T>A
n.2576T>A
c.3788T>A (p.Ile1263Lys)
c.2189T>A (p.Ile730Lys)
c.3584T>A (p.Ile1195Lys)
n.5743T>A
c.3650T>A (p.Ile1217Lys)
c.2024T>A (p.Ile675Lys)
9g.418155T>CCA4958824DOCK8c.3488T>C (p.Ile1163Thr)
n.309T>C
n.2576T>C
c.3788T>C (p.Ile1263Thr)
c.2189T>C (p.Ile730Thr)
c.3584T>C (p.Ile1195Thr)
n.5743T>C
c.3650T>C (p.Ile1217Thr)
c.2024T>C (p.Ile675Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418155T>GCA372762313DOCK8c.3488T>G (p.Ile1163Arg)
n.309T>G
n.2576T>G
c.3788T>G (p.Ile1263Arg)
c.2189T>G (p.Ile730Arg)
c.3584T>G (p.Ile1195Arg)
n.5743T>G
c.3650T>G (p.Ile1217Arg)
c.2024T>G (p.Ile675Arg)
9g.418155T=CA1826891886DOCK8c.3488T= (p.Ile1163=)
n.309T=
n.2576T=
c.3788T= (p.Ile1263=)
c.2189T= (p.Ile730=)
c.3584T= (p.Ile1195=)
n.5743T=
c.3650T= (p.Ile1217=)
c.2024T= (p.Ile675=)
9g.418156A>CCA463692699DOCK8c.3489A>C (p.Ile1163=)
n.310A>C
n.2577A>C
c.3789A>C (p.Ile1263=)
c.2190A>C (p.Ile730=)
c.3585A>C (p.Ile1195=)
n.5744A>C
c.3651A>C (p.Ile1217=)
c.2025A>C (p.Ile675=)
9g.418156A>GCA372762315DOCK8c.3489A>G (p.Ile1163Met)
n.310A>G
n.2577A>G
c.3789A>G (p.Ile1263Met)
c.2190A>G (p.Ile730Met)
c.3585A>G (p.Ile1195Met)
n.5744A>G
c.3651A>G (p.Ile1217Met)
c.2025A>G (p.Ile675Met)
9g.418156A>TCA463692705DOCK8c.3489A>T (p.Ile1163=)
n.310A>T
n.2577A>T
c.3789A>T (p.Ile1263=)
c.2190A>T (p.Ile730=)
c.3585A>T (p.Ile1195=)
n.5744A>T
c.3651A>T (p.Ile1217=)
c.2025A>T (p.Ile675=)
 gnomAD v4
9g.418157G>ACA372762317DOCK8c.3490G>A (p.Ala1164Thr)
n.311G>A
n.2578G>A
c.3790G>A (p.Ala1264Thr)
c.2191G>A (p.Ala731Thr)
c.3586G>A (p.Ala1196Thr)
n.5745G>A
c.3652G>A (p.Ala1218Thr)
c.2026G>A (p.Ala676Thr)
9g.418157G>CCA372762320DOCK8c.3490G>C (p.Ala1164Pro)
n.311G>C
n.2578G>C
c.3790G>C (p.Ala1264Pro)
c.2191G>C (p.Ala731Pro)
c.3586G>C (p.Ala1196Pro)
n.5745G>C
c.3652G>C (p.Ala1218Pro)
c.2026G>C (p.Ala676Pro)
9g.418157G=CA1826891887DOCK8c.3490G= (p.Ala1164=)
n.311G=
n.2578G=
c.3790G= (p.Ala1264=)
c.2191G= (p.Ala731=)
c.3586G= (p.Ala1196=)
n.5745G=
c.3652G= (p.Ala1218=)
c.2026G= (p.Ala676=)
9g.418157G>TCA10634163DOCK8c.3490G>T (p.Ala1164Ser)
n.311G>T
n.2578G>T
c.3790G>T (p.Ala1264Ser)
c.2191G>T (p.Ala731Ser)
c.3586G>T (p.Ala1196Ser)
n.5745G>T
c.3652G>T (p.Ala1218Ser)
c.2026G>T (p.Ala676Ser)
 ClinVar dbSNP gnomAD v4
9g.418158C>ACA372762321DOCK8c.3491C>A (p.Ala1164Glu)
n.312C>A
n.2579C>A
c.3791C>A (p.Ala1264Glu)
c.2192C>A (p.Ala731Glu)
c.3587C>A (p.Ala1196Glu)
n.5746C>A
c.3653C>A (p.Ala1218Glu)
c.2027C>A (p.Ala676Glu)
9g.418158C>GCA372762322DOCK8c.3491C>G (p.Ala1164Gly)
n.312C>G
n.2579C>G
c.3791C>G (p.Ala1264Gly)
c.2192C>G (p.Ala731Gly)
c.3587C>G (p.Ala1196Gly)
n.5746C>G
c.3653C>G (p.Ala1218Gly)
c.2027C>G (p.Ala676Gly)
9g.418158C>TCA372762324DOCK8c.3491C>T (p.Ala1164Val)
n.312C>T
n.2579C>T
c.3791C>T (p.Ala1264Val)
c.2192C>T (p.Ala731Val)
c.3587C>T (p.Ala1196Val)
n.5746C>T
c.3653C>T (p.Ala1218Val)
c.2027C>T (p.Ala676Val)
 gnomAD v4
9g.418159A=CA1826891888DOCK8c.3492A= (p.Ala1164=)
n.313A=
n.2580A=
c.3792A= (p.Ala1264=)
c.2193A= (p.Ala731=)
c.3588A= (p.Ala1196=)
n.5747A=
c.3654A= (p.Ala1218=)
c.2028A= (p.Ala676=)
9g.418159A>CCA463692724DOCK8c.3492A>C (p.Ala1164=)
n.313A>C
n.2580A>C
c.3792A>C (p.Ala1264=)
c.2193A>C (p.Ala731=)
c.3588A>C (p.Ala1196=)
n.5747A>C
c.3654A>C (p.Ala1218=)
c.2028A>C (p.Ala676=)
9g.418159A>GCA4958825DOCK8c.3492A>G (p.Ala1164=)
n.313A>G
n.2580A>G
c.3792A>G (p.Ala1264=)
c.2193A>G (p.Ala731=)
c.3588A>G (p.Ala1196=)
n.5747A>G
c.3654A>G (p.Ala1218=)
c.2028A>G (p.Ala676=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418159A>TCA463692729DOCK8c.3492A>T (p.Ala1164=)
n.313A>T
n.2580A>T
c.3792A>T (p.Ala1264=)
c.2193A>T (p.Ala731=)
c.3588A>T (p.Ala1196=)
n.5747A>T
c.3654A>T (p.Ala1218=)
c.2028A>T (p.Ala676=)
9g.418160G>ACA372762330DOCK8c.3493G>A (p.Gly1165Arg)
n.314G>A
n.2581G>A
c.3793G>A (p.Gly1265Arg)
c.2194G>A (p.Gly732Arg)
c.3589G>A (p.Gly1197Arg)
n.5748G>A
c.3655G>A (p.Gly1219Arg)
c.2029G>A (p.Gly677Arg)
 ClinVar dbSNP
9g.418160G>CCA372762326DOCK8c.3493G>C (p.Gly1165Arg)
n.314G>C
n.2581G>C
c.3793G>C (p.Gly1265Arg)
c.2194G>C (p.Gly732Arg)
c.3589G>C (p.Gly1197Arg)
n.5748G>C
c.3655G>C (p.Gly1219Arg)
c.2029G>C (p.Gly677Arg)
 gnomAD v4
9g.418160G=CA1826891889DOCK8c.3493G= (p.Gly1165=)
n.314G=
n.2581G=
c.3793G= (p.Gly1265=)
c.2194G= (p.Gly732=)
c.3589G= (p.Gly1197=)
n.5748G=
c.3655G= (p.Gly1219=)
c.2029G= (p.Gly677=)
9g.418160G>TCA372762328DOCK8c.3493G>T (p.Gly1165Trp)
n.314G>T
n.2581G>T
c.3793G>T (p.Gly1265Trp)
c.2194G>T (p.Gly732Trp)
c.3589G>T (p.Gly1197Trp)
n.5748G>T
c.3655G>T (p.Gly1219Trp)
c.2029G>T (p.Gly677Trp)
9g.418161G>ACA4958826DOCK8c.3494G>A (p.Gly1165Glu)
n.315G>A
n.2582G>A
c.3794G>A (p.Gly1265Glu)
c.2195G>A (p.Gly732Glu)
c.3590G>A (p.Gly1197Glu)
n.5749G>A
c.3656G>A (p.Gly1219Glu)
c.2030G>A (p.Gly677Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418161G>CCA372762333DOCK8c.3494G>C (p.Gly1165Ala)
n.315G>C
n.2582G>C
c.3794G>C (p.Gly1265Ala)
c.2195G>C (p.Gly732Ala)
c.3590G>C (p.Gly1197Ala)
n.5749G>C
c.3656G>C (p.Gly1219Ala)
c.2030G>C (p.Gly677Ala)
9g.418161G=CA1826891890DOCK8c.3494G= (p.Gly1165=)
n.315G=
n.2582G=
c.3794G= (p.Gly1265=)
c.2195G= (p.Gly732=)
c.3590G= (p.Gly1197=)
n.5749G=
c.3656G= (p.Gly1219=)
c.2030G= (p.Gly677=)
9g.418161G>TCA372762335DOCK8c.3494G>T (p.Gly1165Val)
n.315G>T
n.2582G>T
c.3794G>T (p.Gly1265Val)
c.2195G>T (p.Gly732Val)
c.3590G>T (p.Gly1197Val)
n.5749G>T
c.3656G>T (p.Gly1219Val)
c.2030G>T (p.Gly677Val)
9g.418162G>ACA4958827DOCK8c.3495G>A (p.Gly1165=)
n.316G>A
n.2583G>A
c.3795G>A (p.Gly1265=)
c.2196G>A (p.Gly732=)
c.3591G>A (p.Gly1197=)
n.5750G>A
c.3657G>A (p.Gly1219=)
c.2031G>A (p.Gly677=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.418162G>CCA463692755DOCK8c.3495G>C (p.Gly1165=)
n.316G>C
n.2583G>C
c.3795G>C (p.Gly1265=)
c.2196G>C (p.Gly732=)
c.3591G>C (p.Gly1197=)
n.5750G>C
c.3657G>C (p.Gly1219=)
c.2031G>C (p.Gly677=)
 dbSNP
9g.418162G=CA1826891891DOCK8c.3495G= (p.Gly1165=)
n.316G=
n.2583G=
c.3795G= (p.Gly1265=)
c.2196G= (p.Gly732=)
c.3591G= (p.Gly1197=)
n.5750G=
c.3657G= (p.Gly1219=)
c.2031G= (p.Gly677=)
9g.418162G>TCA463692757DOCK8c.3495G>T (p.Gly1165=)
n.316G>T
n.2583G>T
c.3795G>T (p.Gly1265=)
c.2196G>T (p.Gly732=)
c.3591G>T (p.Gly1197=)
n.5750G>T
c.3657G>T (p.Gly1219=)
c.2031G>T (p.Gly677=)
9g.418163A=CA1826891892DOCK8c.3496A= (p.Asn1166=)
n.317A=
n.2584A=
c.3796A= (p.Asn1266=)
c.2197A= (p.Asn733=)
c.3592A= (p.Asn1198=)
n.5751A=
c.3658A= (p.Asn1220=)
c.2032A= (p.Asn678=)
9g.418163A>CCA372762338DOCK8c.3496A>C (p.Asn1166His)
n.317A>C
n.2584A>C
c.3796A>C (p.Asn1266His)
c.2197A>C (p.Asn733His)
c.3592A>C (p.Asn1198His)
n.5751A>C
c.3658A>C (p.Asn1220His)
c.2032A>C (p.Asn678His)
9g.418163A>GCA187781973DOCK8c.3496A>G (p.Asn1166Asp)
n.317A>G
n.2584A>G
c.3796A>G (p.Asn1266Asp)
c.2197A>G (p.Asn733Asp)
c.3592A>G (p.Asn1198Asp)
n.5751A>G
c.3658A>G (p.Asn1220Asp)
c.2032A>G (p.Asn678Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.418163A>TCA372762341DOCK8c.3496A>T (p.Asn1166Tyr)
n.317A>T
n.2584A>T
c.3796A>T (p.Asn1266Tyr)
c.2197A>T (p.Asn733Tyr)
c.3592A>T (p.Asn1198Tyr)
n.5751A>T
c.3658A>T (p.Asn1220Tyr)
c.2032A>T (p.Asn678Tyr)
9g.418164A=CA1826891893DOCK8c.3497A= (p.Asn1166=)
n.318A=
n.2585A=
c.3797A= (p.Asn1266=)
c.2198A= (p.Asn733=)
c.3593A= (p.Asn1198=)
n.5752A=
c.3659A= (p.Asn1220=)
c.2033A= (p.Asn678=)
9g.418164A>CCA372762343DOCK8c.3497A>C (p.Asn1166Thr)
n.318A>C
n.2585A>C
c.3797A>C (p.Asn1266Thr)
c.2198A>C (p.Asn733Thr)
c.3593A>C (p.Asn1198Thr)
n.5752A>C
c.3659A>C (p.Asn1220Thr)
c.2033A>C (p.Asn678Thr)
9g.418164A>GCA372762344DOCK8c.3497A>G (p.Asn1166Ser)
n.318A>G
n.2585A>G
c.3797A>G (p.Asn1266Ser)
c.2198A>G (p.Asn733Ser)
c.3593A>G (p.Asn1198Ser)
n.5752A>G
c.3659A>G (p.Asn1220Ser)
c.2033A>G (p.Asn678Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.418164A>TCA372762346DOCK8c.3497A>T (p.Asn1166Ile)
n.318A>T
n.2585A>T
c.3797A>T (p.Asn1266Ile)
c.2198A>T (p.Asn733Ile)
c.3593A>T (p.Asn1198Ile)
n.5752A>T
c.3659A>T (p.Asn1220Ile)
c.2033A>T (p.Asn678Ile)
9g.418165T>ACA372762347DOCK8c.3498T>A (p.Asn1166Lys)
n.319T>A
n.2586T>A
c.3798T>A (p.Asn1266Lys)
c.2199T>A (p.Asn733Lys)
c.3594T>A (p.Asn1198Lys)
n.5753T>A
c.3660T>A (p.Asn1220Lys)
c.2034T>A (p.Asn678Lys)
9g.418165T>CCA463692770DOCK8c.3498T>C (p.Asn1166=)
n.319T>C
n.2586T>C
c.3798T>C (p.Asn1266=)
c.2199T>C (p.Asn733=)
c.3594T>C (p.Asn1198=)
n.5753T>C
c.3660T>C (p.Asn1220=)
c.2034T>C (p.Asn678=)
9g.418165T>GCA372762348DOCK8c.3498T>G (p.Asn1166Lys)
n.319T>G
n.2586T>G
c.3798T>G (p.Asn1266Lys)
c.2199T>G (p.Asn733Lys)
c.3594T>G (p.Asn1198Lys)
n.5753T>G
c.3660T>G (p.Asn1220Lys)
c.2034T>G (p.Asn678Lys)
9g.418166A>CCA372762353DOCK8c.3499A>C (p.Asn1167His)
n.320A>C
n.2587A>C
c.3799A>C (p.Asn1267His)
c.2200A>C (p.Asn734His)
c.3595A>C (p.Asn1199His)
n.5754A>C
c.3661A>C (p.Asn1221His)
c.2035A>C (p.Asn679His)
9g.418166A>GCA372762351DOCK8c.3499A>G (p.Asn1167Asp)
n.320A>G
n.2587A>G
c.3799A>G (p.Asn1267Asp)
c.2200A>G (p.Asn734Asp)
c.3595A>G (p.Asn1199Asp)
n.5754A>G
c.3661A>G (p.Asn1221Asp)
c.2035A>G (p.Asn679Asp)
9g.418166A>TCA372762352DOCK8c.3499A>T (p.Asn1167Tyr)
n.320A>T
n.2587A>T
c.3799A>T (p.Asn1267Tyr)
c.2200A>T (p.Asn734Tyr)
c.3595A>T (p.Asn1199Tyr)
n.5754A>T
c.3661A>T (p.Asn1221Tyr)
c.2035A>T (p.Asn679Tyr)
9g.418167A>CCA372762357DOCK8c.3500A>C (p.Asn1167Thr)
n.321A>C
n.2588A>C
c.3800A>C (p.Asn1267Thr)
c.2201A>C (p.Asn734Thr)
c.3596A>C (p.Asn1199Thr)
n.5755A>C
c.3662A>C (p.Asn1221Thr)
c.2036A>C (p.Asn679Thr)
9g.418167A>GCA372762358DOCK8c.3500A>G (p.Asn1167Ser)
n.321A>G
n.2588A>G
c.3800A>G (p.Asn1267Ser)
c.2201A>G (p.Asn734Ser)
c.3596A>G (p.Asn1199Ser)
n.5755A>G
c.3662A>G (p.Asn1221Ser)
c.2036A>G (p.Asn679Ser)
9g.418167A>TCA372762360DOCK8c.3500A>T (p.Asn1167Ile)
n.321A>T
n.2588A>T
c.3800A>T (p.Asn1267Ile)
c.2201A>T (p.Asn734Ile)
c.3596A>T (p.Asn1199Ile)
n.5755A>T
c.3662A>T (p.Asn1221Ile)
c.2036A>T (p.Asn679Ile)
9g.418167_418168delinsATCA1826891894DOCK8c.3500_3501delinsAT (p.Asn1167=)
n.321_322delinsAT
n.2588_2589delinsAT
c.3800_3801delinsAT (p.Asn1267=)
c.2201_2202delinsAT (p.Asn734=)
c.3596_3597delinsAT (p.Asn1199=)
n.5755_5756delinsAT
c.3662_3663delinsAT (p.Asn1221=)
c.2036_2037delinsAT (p.Asn679=)
9g.418168T>ACA372762361DOCK8c.3501T>A (p.Asn1167Lys)
n.322T>A
n.2589T>A
c.3801T>A (p.Asn1267Lys)
c.2202T>A (p.Asn734Lys)
c.3597T>A (p.Asn1199Lys)
n.5756T>A
c.3663T>A (p.Asn1221Lys)
c.2037T>A (p.Asn679Lys)
 ClinVar dbSNP
9g.418168T>CCA463692783DOCK8c.3501T>C (p.Asn1167=)
n.322T>C
n.2589T>C
c.3801T>C (p.Asn1267=)
c.2202T>C (p.Asn734=)
c.3597T>C (p.Asn1199=)
n.5756T>C
c.3663T>C (p.Asn1221=)
c.2037T>C (p.Asn679=)
9g.418168T>GCA372762362DOCK8c.3501T>G (p.Asn1167Lys)
n.322T>G
n.2589T>G
c.3801T>G (p.Asn1267Lys)
c.2202T>G (p.Asn734Lys)
c.3597T>G (p.Asn1199Lys)
n.5756T>G
c.3663T>G (p.Asn1221Lys)
c.2037T>G (p.Asn679Lys)
9g.418170delCA916080405DOCK8c.3503del (p.Phe1168SerfsTer3)
n.324del
n.2591del
c.3803del (p.Phe1268SerfsTer3)
c.2204del (p.Phe735SerfsTer3)
c.3599del (p.Phe1200SerfsTer3)
n.5758del
c.3665del (p.Phe1222SerfsTer3)
c.2039del (p.Phe680SerfsTer3)
 ClinVar dbSNP gnomAD v4
9g.418169T>ACA372762365DOCK8c.3502T>A (p.Phe1168Ile)
n.323T>A
n.2590T>A
c.3802T>A (p.Phe1268Ile)
c.2203T>A (p.Phe735Ile)
c.3598T>A (p.Phe1200Ile)
n.5757T>A
c.3664T>A (p.Phe1222Ile)
c.2038T>A (p.Phe680Ile)
9g.418169T>CCA372762366DOCK8c.3502T>C (p.Phe1168Leu)
n.323T>C
n.2590T>C
c.3802T>C (p.Phe1268Leu)
c.2203T>C (p.Phe735Leu)
c.3598T>C (p.Phe1200Leu)
n.5757T>C
c.3664T>C (p.Phe1222Leu)
c.2038T>C (p.Phe680Leu)
9g.418169T>GCA372762367DOCK8c.3502T>G (p.Phe1168Val)
n.323T>G
n.2590T>G
c.3802T>G (p.Phe1268Val)
c.2203T>G (p.Phe735Val)
c.3598T>G (p.Phe1200Val)
n.5757T>G
c.3664T>G (p.Phe1222Val)
c.2038T>G (p.Phe680Val)
9g.418170T>ACA372762369DOCK8c.3503T>A (p.Phe1168Tyr)
n.324T>A
n.2591T>A
c.3803T>A (p.Phe1268Tyr)
c.2204T>A (p.Phe735Tyr)
c.3599T>A (p.Phe1200Tyr)
n.5758T>A
c.3665T>A (p.Phe1222Tyr)
c.2039T>A (p.Phe680Tyr)
9g.418170T>CCA372762371DOCK8c.3503T>C (p.Phe1168Ser)
n.324T>C
n.2591T>C
c.3803T>C (p.Phe1268Ser)
c.2204T>C (p.Phe735Ser)
c.3599T>C (p.Phe1200Ser)
n.5758T>C
c.3665T>C (p.Phe1222Ser)
c.2039T>C (p.Phe680Ser)
9g.418170T>GCA372762373DOCK8c.3503T>G (p.Phe1168Cys)
n.324T>G
n.2591T>G
c.3803T>G (p.Phe1268Cys)
c.2204T>G (p.Phe735Cys)
c.3599T>G (p.Phe1200Cys)
n.5758T>G
c.3665T>G (p.Phe1222Cys)
c.2039T>G (p.Phe680Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.418170T=CA1826891895DOCK8c.3503T= (p.Phe1168=)
n.324T=
n.2591T=
c.3803T= (p.Phe1268=)
c.2204T= (p.Phe735=)
c.3599T= (p.Phe1200=)
n.5758T=
c.3665T= (p.Phe1222=)
c.2039T= (p.Phe680=)
9g.418171C>ACA372762375DOCK8c.3504C>A (p.Phe1168Leu)
n.325C>A
n.2592C>A
c.3804C>A (p.Phe1268Leu)
c.2205C>A (p.Phe735Leu)
c.3600C>A (p.Phe1200Leu)
n.5759C>A
c.3666C>A (p.Phe1222Leu)
c.2040C>A (p.Phe680Leu)
9g.418171C>GCA372762376DOCK8c.3504C>G (p.Phe1168Leu)
n.325C>G
n.2592C>G
c.3804C>G (p.Phe1268Leu)
c.2205C>G (p.Phe735Leu)
c.3600C>G (p.Phe1200Leu)
n.5759C>G
c.3666C>G (p.Phe1222Leu)
c.2040C>G (p.Phe680Leu)
 gnomAD v4
9g.418171C>TCA463692796DOCK8c.3504C>T (p.Phe1168=)
n.325C>T
n.2592C>T
c.3804C>T (p.Phe1268=)
c.2205C>T (p.Phe735=)
c.3600C>T (p.Phe1200=)
n.5759C>T
c.3666C>T (p.Phe1222=)
c.2040C>T (p.Phe680=)
9g.418172A>CCA372762382DOCK8c.3505A>C (p.Asn1169His)
n.326A>C
n.2593A>C
c.3805A>C (p.Asn1269His)
c.2206A>C (p.Asn736His)
c.3601A>C (p.Asn1201His)
n.5760A>C
c.3667A>C (p.Asn1223His)
c.2041A>C (p.Asn681His)
9g.418172A>GCA372762379DOCK8c.3505A>G (p.Asn1169Asp)
n.326A>G
n.2593A>G
c.3805A>G (p.Asn1269Asp)
c.2206A>G (p.Asn736Asp)
c.3601A>G (p.Asn1201Asp)
n.5760A>G
c.3667A>G (p.Asn1223Asp)
c.2041A>G (p.Asn681Asp)
9g.418172A>TCA372762380DOCK8c.3505A>T (p.Asn1169Tyr)
n.326A>T
n.2593A>T
c.3805A>T (p.Asn1269Tyr)
c.2206A>T (p.Asn736Tyr)
c.3601A>T (p.Asn1201Tyr)
n.5760A>T
c.3667A>T (p.Asn1223Tyr)
c.2041A>T (p.Asn681Tyr)
9g.418173A=CA1826891896DOCK8c.3506A= (p.Asn1169=)
n.327A=
n.2594A=
c.3806A= (p.Asn1269=)
c.2207A= (p.Asn736=)
c.3602A= (p.Asn1201=)
n.5761A=
c.3668A= (p.Asn1223=)
c.2042A= (p.Asn681=)
9g.418173A>CCA4958828DOCK8c.3506A>C (p.Asn1169Thr)
n.327A>C
n.2594A>C
c.3806A>C (p.Asn1269Thr)
c.2207A>C (p.Asn736Thr)
c.3602A>C (p.Asn1201Thr)
n.5761A>C
c.3668A>C (p.Asn1223Thr)
c.2042A>C (p.Asn681Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.418173A>GCA4958829DOCK8c.3506A>G (p.Asn1169Ser)
n.327A>G
n.2594A>G
c.3806A>G (p.Asn1269Ser)
c.2207A>G (p.Asn736Ser)
c.3602A>G (p.Asn1201Ser)
n.5761A>G
c.3668A>G (p.Asn1223Ser)
c.2042A>G (p.Asn681Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418173A>TCA372762388DOCK8c.3506A>T (p.Asn1169Ile)
n.327A>T
n.2594A>T
c.3806A>T (p.Asn1269Ile)
c.2207A>T (p.Asn736Ile)
c.3602A>T (p.Asn1201Ile)
n.5761A>T
c.3668A>T (p.Asn1223Ile)
c.2042A>T (p.Asn681Ile)
9g.418174T>ACA372762390DOCK8c.3507T>A (p.Asn1169Lys)
n.328T>A
n.2595T>A
c.3807T>A (p.Asn1269Lys)
c.2208T>A (p.Asn736Lys)
c.3603T>A (p.Asn1201Lys)
n.5762T>A
c.3669T>A (p.Asn1223Lys)
c.2043T>A (p.Asn681Lys)
9g.418174T>CCA463692810DOCK8c.3507T>C (p.Asn1169=)
n.328T>C
n.2595T>C
c.3807T>C (p.Asn1269=)
c.2208T>C (p.Asn736=)
c.3603T>C (p.Asn1201=)
n.5762T>C
c.3669T>C (p.Asn1223=)
c.2043T>C (p.Asn681=)
9g.418174T>GCA372762391DOCK8c.3507T>G (p.Asn1169Lys)
n.328T>G
n.2595T>G
c.3807T>G (p.Asn1269Lys)
c.2208T>G (p.Asn736Lys)
c.3603T>G (p.Asn1201Lys)
n.5762T>G
c.3669T>G (p.Asn1223Lys)
c.2043T>G (p.Asn681Lys)
9g.418175T>ACA372762393DOCK8c.3508T>A (p.Leu1170Met)
n.329T>A
n.2596T>A
c.3808T>A (p.Leu1270Met)
c.2209T>A (p.Leu737Met)
c.3604T>A (p.Leu1202Met)
n.5763T>A
c.3670T>A (p.Leu1224Met)
c.2044T>A (p.Leu682Met)
9g.418175T>CCA463692813DOCK8c.3508T>C (p.Leu1170=)
n.329T>C
n.2596T>C
c.3808T>C (p.Leu1270=)
c.2209T>C (p.Leu737=)
c.3604T>C (p.Leu1202=)
n.5763T>C
c.3670T>C (p.Leu1224=)
c.2044T>C (p.Leu682=)
 gnomAD v4
9g.418175T>GCA372762394DOCK8c.3508T>G (p.Leu1170Val)
n.329T>G
n.2596T>G
c.3808T>G (p.Leu1270Val)
c.2209T>G (p.Leu737Val)
c.3604T>G (p.Leu1202Val)
n.5763T>G
c.3670T>G (p.Leu1224Val)
c.2044T>G (p.Leu682Val)
9g.418176T>ACA372762395DOCK8c.3509T>A (p.Leu1170Ter)
n.330T>A
n.2597T>A
c.3809T>A (p.Leu1270Ter)
c.2210T>A (p.Leu737Ter)
c.3605T>A (p.Leu1202Ter)
n.5764T>A
c.3671T>A (p.Leu1224Ter)
c.2045T>A (p.Leu682Ter)
9g.418176T>CCA372762396DOCK8c.3509T>C (p.Leu1170Ser)
n.330T>C
n.2597T>C
c.3809T>C (p.Leu1270Ser)
c.2210T>C (p.Leu737Ser)
c.3605T>C (p.Leu1202Ser)
n.5764T>C
c.3671T>C (p.Leu1224Ser)
c.2045T>C (p.Leu682Ser)
9g.418176T>GCA372762397DOCK8c.3509T>G (p.Leu1170Trp)
n.330T>G
n.2597T>G
c.3809T>G (p.Leu1270Trp)
c.2210T>G (p.Leu737Trp)
c.3605T>G (p.Leu1202Trp)
n.5764T>G
c.3671T>G (p.Leu1224Trp)
c.2045T>G (p.Leu682Trp)
9g.418177G>ACA463692818DOCK8c.3510G>A (p.Leu1170=)
n.331G>A
n.2598G>A
c.3810G>A (p.Leu1270=)
c.2211G>A (p.Leu737=)
c.3606G>A (p.Leu1202=)
n.5765G>A
c.3672G>A (p.Leu1224=)
c.2046G>A (p.Leu682=)
 COSMIC COSMIC
9g.418177G>CCA187781987DOCK8c.3510G>C (p.Leu1170Phe)
n.331G>C
n.2598G>C
c.3810G>C (p.Leu1270Phe)
c.2211G>C (p.Leu737Phe)
c.3606G>C (p.Leu1202Phe)
n.5765G>C
c.3672G>C (p.Leu1224Phe)
c.2046G>C (p.Leu682Phe)
 dbSNP gnomAD v4
9g.418177G=CA1826891897DOCK8c.3510G= (p.Leu1170=)
n.331G=
n.2598G=
c.3810G= (p.Leu1270=)
c.2211G= (p.Leu737=)
c.3606G= (p.Leu1202=)
n.5765G=
c.3672G= (p.Leu1224=)
c.2046G= (p.Leu682=)
9g.418177G>TCA372762401DOCK8c.3510G>T (p.Leu1170Phe)
n.331G>T
n.2598G>T
c.3810G>T (p.Leu1270Phe)
c.2211G>T (p.Leu737Phe)
c.3606G>T (p.Leu1202Phe)
n.5765G>T
c.3672G>T (p.Leu1224Phe)
c.2046G>T (p.Leu682Phe)
9g.418178A>CCA372762403DOCK8c.3511A>C (p.Lys1171Gln)
n.332A>C
n.2599A>C
c.3811A>C (p.Lys1271Gln)
c.2212A>C (p.Lys738Gln)
c.3607A>C (p.Lys1203Gln)
n.5766A>C
c.3673A>C (p.Lys1225Gln)
c.2047A>C (p.Lys683Gln)
 gnomAD v4
9g.418178A>GCA372762405DOCK8c.3511A>G (p.Lys1171Glu)
n.332A>G
n.2599A>G
c.3811A>G (p.Lys1271Glu)
c.2212A>G (p.Lys738Glu)
c.3607A>G (p.Lys1203Glu)
n.5766A>G
c.3673A>G (p.Lys1225Glu)
c.2047A>G (p.Lys683Glu)
9g.418178A>TCA372762404DOCK8c.3511A>T (p.Lys1171Ter)
n.332A>T
n.2599A>T
c.3811A>T (p.Lys1271Ter)
c.2212A>T (p.Lys738Ter)
c.3607A>T (p.Lys1203Ter)
n.5766A>T
c.3673A>T (p.Lys1225Ter)
c.2047A>T (p.Lys683Ter)
9g.418179A=CA1826891898DOCK8c.3512A= (p.Lys1171=)
n.333A=
n.2600A=
c.3812A= (p.Lys1271=)
c.2213A= (p.Lys738=)
c.3608A= (p.Lys1203=)
n.5767A=
c.3674A= (p.Lys1225=)
c.2048A= (p.Lys683=)
9g.418179A>CCA372762408DOCK8c.3512A>C (p.Lys1171Thr)
n.333A>C
n.2600A>C
c.3812A>C (p.Lys1271Thr)
c.2213A>C (p.Lys738Thr)
c.3608A>C (p.Lys1203Thr)
n.5767A>C
c.3674A>C (p.Lys1225Thr)
c.2048A>C (p.Lys683Thr)
 dbSNP
9g.418179A>GCA372762412DOCK8c.3512A>G (p.Lys1171Arg)
n.333A>G
n.2600A>G
c.3812A>G (p.Lys1271Arg)
c.2213A>G (p.Lys738Arg)
c.3608A>G (p.Lys1203Arg)
n.5767A>G
c.3674A>G (p.Lys1225Arg)
c.2048A>G (p.Lys683Arg)
9g.418179A>TCA372762409DOCK8c.3512A>T (p.Lys1171Ile)
n.333A>T
n.2600A>T
c.3812A>T (p.Lys1271Ile)
c.2213A>T (p.Lys738Ile)
c.3608A>T (p.Lys1203Ile)
n.5767A>T
c.3674A>T (p.Lys1225Ile)
c.2048A>T (p.Lys683Ile)
 dbSNP gnomAD v4
9g.418180A=CA1826891899DOCK8c.3513A= (p.Lys1171=)
n.334A=
n.2601A=
c.3813A= (p.Lys1271=)
c.2214A= (p.Lys738=)
c.3609A= (p.Lys1203=)
n.5768A=
c.3675A= (p.Lys1225=)
c.2049A= (p.Lys683=)
9g.418180A>CCA372762413DOCK8c.3513A>C (p.Lys1171Asn)
n.334A>C
n.2601A>C
c.3813A>C (p.Lys1271Asn)
c.2214A>C (p.Lys738Asn)
c.3609A>C (p.Lys1203Asn)
n.5768A>C
c.3675A>C (p.Lys1225Asn)
c.2049A>C (p.Lys683Asn)
9g.418180A>GCA4958830DOCK8c.3513A>G (p.Lys1171=)
n.334A>G
n.2601A>G
c.3813A>G (p.Lys1271=)
c.2214A>G (p.Lys738=)
c.3609A>G (p.Lys1203=)
n.5768A>G
c.3675A>G (p.Lys1225=)
c.2049A>G (p.Lys683=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.418180A>TCA372762415DOCK8c.3513A>T (p.Lys1171Asn)
n.334A>T
n.2601A>T
c.3813A>T (p.Lys1271Asn)
c.2214A>T (p.Lys738Asn)
c.3609A>T (p.Lys1203Asn)
n.5768A>T
c.3675A>T (p.Lys1225Asn)
c.2049A>T (p.Lys683Asn)
9g.418181A>CCA372762418DOCK8c.3514A>C (p.Thr1172Pro)
n.335A>C
n.2602A>C
c.3814A>C (p.Thr1272Pro)
c.2215A>C (p.Thr739Pro)
c.3610A>C (p.Thr1204Pro)
n.5769A>C
c.3676A>C (p.Thr1226Pro)
c.2050A>C (p.Thr684Pro)
9g.418181A>GCA372762422DOCK8c.3514A>G (p.Thr1172Ala)
n.335A>G
n.2602A>G
c.3814A>G (p.Thr1272Ala)
c.2215A>G (p.Thr739Ala)
c.3610A>G (p.Thr1204Ala)
n.5769A>G
c.3676A>G (p.Thr1226Ala)
c.2050A>G (p.Thr684Ala)
9g.418181A>TCA372762420DOCK8c.3514A>T (p.Thr1172Ser)
n.335A>T
n.2602A>T
c.3814A>T (p.Thr1272Ser)
c.2215A>T (p.Thr739Ser)
c.3610A>T (p.Thr1204Ser)
n.5769A>T
c.3676A>T (p.Thr1226Ser)
c.2050A>T (p.Thr684Ser)

Number of alleles fetched