| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.418080G>A | CA4958803 | DOCK8 | c.3413G>A (p.Arg1138His) n.234G>A n.2501G>A c.3713G>A (p.Arg1238His) c.2114G>A (p.Arg705His) c.3509G>A (p.Arg1170His) n.5668G>A c.3575G>A (p.Arg1192His) c.1949G>A (p.Arg650His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.418080G>C | CA372761978 | DOCK8 | c.3413G>C (p.Arg1138Pro) n.234G>C n.2501G>C c.3713G>C (p.Arg1238Pro) c.2114G>C (p.Arg705Pro) c.3509G>C (p.Arg1170Pro) n.5668G>C c.3575G>C (p.Arg1192Pro) c.1949G>C (p.Arg650Pro) | |
| 9 | g.418080G= | CA1826891840 | DOCK8 | c.3413G= (p.Arg1138=) n.234G= n.2501G= c.3713G= (p.Arg1238=) c.2114G= (p.Arg705=) c.3509G= (p.Arg1170=) n.5668G= c.3575G= (p.Arg1192=) c.1949G= (p.Arg650=) | |
| 9 | g.418080G>T | CA372761981 | DOCK8 | c.3413G>T (p.Arg1138Leu) n.234G>T n.2501G>T c.3713G>T (p.Arg1238Leu) c.2114G>T (p.Arg705Leu) c.3509G>T (p.Arg1170Leu) n.5668G>T c.3575G>T (p.Arg1192Leu) c.1949G>T (p.Arg650Leu) | gnomAD v4 |
| 9 | g.418081C>A | CA463692148 | DOCK8 | c.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=) | |
| 9 | g.418081C>G | CA463692150 | DOCK8 | c.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=) | |
| 9 | g.418081C>T | CA463692153 | DOCK8 | c.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=) | |
| 9 | g.418082A>C | CA463692157 | DOCK8 | c.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=) | |
| 9 | g.418082A>G | CA372761989 | DOCK8 | c.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 |
| 9 | g.418082A>T | CA372761991 | DOCK8 | c.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) | |
| 9 | g.418083G>A | CA372761994 | DOCK8 | c.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) | |
| 9 | g.418083G>C | CA372761996 | DOCK8 | c.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) | |
| 9 | g.418083G>T | CA372762002 | DOCK8 | c.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) | |
| 9 | g.418084A= | CA1826891841 | DOCK8 | c.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=) | |
| 9 | g.418084A>C | CA372762005 | DOCK8 | c.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) | |
| 9 | g.418084A>G | CA463692174 | DOCK8 | c.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 |
| 9 | g.418084A>T | CA4958804 | DOCK8 | c.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 |
| 9 | g.418085T>A | CA372762013 | DOCK8 | c.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) | |
| 9 | g.418085T>C | CA372762018 | DOCK8 | c.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 |
| 9 | g.418085T>G | CA4958805 | DOCK8 | c.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 |
| 9 | g.418085T= | CA1826891842 | DOCK8 | c.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=) | |
| 9 | g.418086A= | CA1826891843 | DOCK8 | c.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=) | |
| 9 | g.418086A>C | CA372762021 | DOCK8 | c.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 |
| 9 | g.418086A>G | CA372762023 | DOCK8 | c.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) | |
| 9 | g.418086A>T | CA372762025 | DOCK8 | c.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) | |
| 9 | g.418086dup | CA2689206991 | DOCK8 | c.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 |
| 9 | g.418087C>A | CA372762063 | DOCK8 | c.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) | |
| 9 | g.418087C= | CA1826891844 | DOCK8 | c.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=) | |
| 9 | g.418087C>G | CA372762070 | DOCK8 | c.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) | |
| 9 | g.418087C>T | CA463692198 | DOCK8 | c.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 |
| 9 | g.418088C>A | CA372762073 | DOCK8 | c.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 |
| 9 | g.418088C= | CA1826891845 | DOCK8 | c.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=) | |
| 9 | g.418088C>G | CA372762075 | DOCK8 | c.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 |
| 9 | g.418088C>T | CA4958806 | DOCK8 | c.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 |
| 9 | g.418089G>A | CA4958807 | DOCK8 | c.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 |
| 9 | g.418089G>C | CA372762080 | DOCK8 | c.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) | |
| 9 | g.418089G= | CA1826891846 | DOCK8 | c.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=) | |
| 9 | g.418089G>T | CA372762081 | DOCK8 | c.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 |
| 9 | g.418090C>A | CA463692218 | DOCK8 | c.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 |
| 9 | g.418090C= | CA1826891847 | DOCK8 | c.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=) | |
| 9 | g.418090C>G | CA463692220 | DOCK8 | c.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=) | |
| 9 | g.418090C>T | CA463692223 | DOCK8 | c.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 |
| 9 | g.418091A= | CA1826891848 | DOCK8 | c.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=) | |
| 9 | g.418091A>C | CA372762085 | DOCK8 | c.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 |
| 9 | g.418091A>G | CA372762087 | DOCK8 | c.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) | |
| 9 | g.418091A>T | CA4958808 | DOCK8 | c.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 |
| 9 | g.418091dup | CA2689206992 | DOCK8 | c.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 |
| 9 | g.418092C>A | CA372762091 | DOCK8 | c.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) | |
| 9 | g.418092C= | CA1826891849 | DOCK8 | c.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=) | |
| 9 | g.418092C>G | CA372762092 | DOCK8 | c.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 |