Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.62634825G>A | CA340621960 | DOCK7 | c.653C>T (p.Ser218Leu) c.983C>T (p.Ser328Leu) c.921C>T c.659C>T (p.Ser220Leu) n.867C>T | |
1 | g.62634825G>C | CA10575642 | DOCK7 | c.653C>G (p.Ser218Ter) c.983C>G (p.Ser328Ter) c.921C>G c.659C>G (p.Ser220Ter) n.867C>G | ClinVar dbSNP |
1 | g.62634825G= | CA1171161552 | DOCK7 | c.653C= (p.Ser218=) c.983C= (p.Ser328=) c.921C= c.659C= (p.Ser220=) n.867C= | |
1 | g.62634825G>T | CA340621961 | DOCK7 | c.653C>A (p.Ser218Ter) c.983C>A (p.Ser328Ter) c.921C>A c.659C>A (p.Ser220Ter) n.867C>A | |
1 | g.62634826A>C | CA340621962 | DOCK7 | c.652T>G (p.Ser218Ala) c.982T>G (p.Ser328Ala) c.920T>G c.658T>G (p.Ser220Ala) n.866T>G | gnomAD v4 |
1 | g.62634826A>G | CA340621963 | DOCK7 | c.652T>C (p.Ser218Pro) c.982T>C (p.Ser328Pro) c.920T>C c.658T>C (p.Ser220Pro) n.866T>C | |
1 | g.62634826A>T | CA340621964 | DOCK7 | c.652T>A (p.Ser218Thr) c.982T>A (p.Ser328Thr) c.920T>A c.658T>A (p.Ser220Thr) n.866T>A | |
1 | g.62634827T>A | CA23780429 | DOCK7 | c.651A>T (p.Arg217Ser) c.981A>T (p.Arg327Ser) c.919A>T c.657A>T (p.Arg219Ser) n.865A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62634827T>C | CA418006457 | DOCK7 | c.651A>G (p.Arg217=) c.981A>G (p.Arg327=) c.919A>G c.657A>G (p.Arg219=) n.865A>G | |
1 | g.62634827T>G | CA340621965 | DOCK7 | c.651A>C (p.Arg217Ser) c.981A>C (p.Arg327Ser) c.919A>C c.657A>C (p.Arg219Ser) n.865A>C | |
1 | g.62634827T= | CA1143700968 | DOCK7 | c.651A= (p.Arg217=) c.981A= (p.Arg327=) c.919A= c.657A= (p.Arg219=) n.865A= | |
1 | g.62634828C>A | CA340621967 | DOCK7 | c.650G>T (p.Arg217Ile) c.980G>T (p.Arg327Ile) c.918G>T c.656G>T (p.Arg219Ile) n.864G>T | |
1 | g.62634828C>G | CA340621968 | DOCK7 | c.650G>C (p.Arg217Thr) c.980G>C (p.Arg327Thr) c.918G>C c.656G>C (p.Arg219Thr) n.864G>C | COSMIC COSMIC COSMIC |
1 | g.62634828C>T | CA340621966 | DOCK7 | c.650G>A (p.Arg217Lys) c.980G>A (p.Arg327Lys) c.918G>A c.656G>A (p.Arg219Lys) n.864G>A | |
1 | g.62634829T>A | CA340621969 | DOCK7 | c.649A>T (p.Arg217Ter) c.979A>T (p.Arg327Ter) c.917A>T c.655A>T (p.Arg219Ter) n.863A>T | |
1 | g.62634829T>C | CA340621970 | DOCK7 | c.649A>G (p.Arg217Gly) c.979A>G (p.Arg327Gly) c.917A>G c.655A>G (p.Arg219Gly) n.863A>G | |
1 | g.62634829T>G | CA418006459 | DOCK7 | c.649A>C (p.Arg217=) c.979A>C (p.Arg327=) c.917A>C c.655A>C (p.Arg219=) n.863A>C | |
1 | g.62634830T>A | CA418006460 | DOCK7 | c.648A>T (p.Ala216=) c.978A>T (p.Ala326=) c.916A>T c.654A>T (p.Ala218=) n.862A>T | |
1 | g.62634830T>C | CA418006461 | DOCK7 | c.648A>G (p.Ala216=) c.978A>G (p.Ala326=) c.916A>G c.654A>G (p.Ala218=) n.862A>G | |
1 | g.62634830T>G | CA418006462 | DOCK7 | c.648A>C (p.Ala216=) c.978A>C (p.Ala326=) c.916A>C c.654A>C (p.Ala218=) n.862A>C | |
1 | g.62634831G>A | CA340621971 | DOCK7 | c.647C>T (p.Ala216Val) c.977C>T (p.Ala326Val) c.915C>T c.653C>T (p.Ala218Val) n.861C>T | COSMIC COSMIC COSMIC |
1 | g.62634831G>C | CA340621972 | DOCK7 | c.647C>G (p.Ala216Gly) c.977C>G (p.Ala326Gly) c.915C>G c.653C>G (p.Ala218Gly) n.861C>G | |
1 | g.62634831G>T | CA340621973 | DOCK7 | c.647C>A (p.Ala216Glu) c.977C>A (p.Ala326Glu) c.915C>A c.653C>A (p.Ala218Glu) n.861C>A | |
1 | g.62634832C>A | CA340621974 | DOCK7 | c.646G>T (p.Ala216Ser) c.976G>T (p.Ala326Ser) c.914G>T c.652G>T (p.Ala218Ser) n.860G>T | |
1 | g.62634832C>G | CA340621975 | DOCK7 | c.646G>C (p.Ala216Pro) c.976G>C (p.Ala326Pro) c.914G>C c.652G>C (p.Ala218Pro) n.860G>C | |
1 | g.62634832C>T | CA340621976 | DOCK7 | c.646G>A (p.Ala216Thr) c.976G>A (p.Ala326Thr) c.914G>A c.652G>A (p.Ala218Thr) n.860G>A | |
1 | g.62634833C>A | CA418006464 | DOCK7 | c.645G>T (p.Leu215=) c.975G>T (p.Leu325=) c.913G>T c.651G>T (p.Leu217=) n.859G>T | COSMIC COSMIC COSMIC |
1 | g.62634833C>G | CA418006465 | DOCK7 | c.645G>C (p.Leu215=) c.975G>C (p.Leu325=) c.913G>C c.651G>C (p.Leu217=) n.859G>C | |
1 | g.62634833C>T | CA418006466 | DOCK7 | c.645G>A (p.Leu215=) c.975G>A (p.Leu325=) c.913G>A c.651G>A (p.Leu217=) n.859G>A | |
1 | g.62634834A>C | CA340621977 | DOCK7 | c.644T>G (p.Leu215Arg) c.974T>G (p.Leu325Arg) c.912T>G c.650T>G (p.Leu217Arg) n.858T>G | |
1 | g.62634834A>G | CA340621978 | DOCK7 | c.644T>C (p.Leu215Pro) c.974T>C (p.Leu325Pro) c.912T>C c.650T>C (p.Leu217Pro) n.858T>C | gnomAD v4 |
1 | g.62634834A>T | CA340621980 | DOCK7 | c.644T>A (p.Leu215Gln) c.974T>A (p.Leu325Gln) c.912T>A c.650T>A (p.Leu217Gln) n.858T>A | |
1 | g.62634835G>A | CA418006467 | DOCK7 | c.643C>T (p.Leu215=) c.973C>T (p.Leu325=) c.911C>T c.649C>T (p.Leu217=) n.857C>T | |
1 | g.62634835G>C | CA340621981 | DOCK7 | c.643C>G (p.Leu215Val) c.973C>G (p.Leu325Val) c.911C>G c.649C>G (p.Leu217Val) n.857C>G | |
1 | g.62634835G>T | CA340621983 | DOCK7 | c.643C>A (p.Leu215Met) c.973C>A (p.Leu325Met) c.911C>A c.649C>A (p.Leu217Met) n.857C>A | |
1 | g.62634837del | CA2574391538 | DOCK7 | c.643del (p.Leu215TrpfsTer19) c.973del (p.Leu325TrpfsTer19) c.911del c.649del (p.Leu217TrpfsTer19) n.857del | |
1 | g.62634836G>A | CA418006468 | DOCK7 | c.642C>T (p.Thr214=) c.972C>T (p.Thr324=) c.910C>T c.648C>T (p.Thr216=) n.856C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62634836G>C | CA418006469 | DOCK7 | c.642C>G (p.Thr214=) c.972C>G (p.Thr324=) c.910C>G c.648C>G (p.Thr216=) n.856C>G | |
1 | g.62634836G= | CA1171161553 | DOCK7 | c.642C= (p.Thr214=) c.972C= (p.Thr324=) c.910C= c.648C= (p.Thr216=) n.856C= | |
1 | g.62634836G>T | CA418006470 | DOCK7 | c.642C>A (p.Thr214=) c.972C>A (p.Thr324=) c.910C>A c.648C>A (p.Thr216=) n.856C>A | |
1 | g.62634837G>A | CA340621989 | DOCK7 | c.641C>T (p.Thr214Ile) c.971C>T (p.Thr324Ile) c.909C>T c.647C>T (p.Thr216Ile) n.855C>T | |
1 | g.62634837G>C | CA340621987 | DOCK7 | c.641C>G (p.Thr214Ser) c.971C>G (p.Thr324Ser) c.909C>G c.647C>G (p.Thr216Ser) n.855C>G | |
1 | g.62634837G>T | CA340621985 | DOCK7 | c.641C>A (p.Thr214Asn) c.971C>A (p.Thr324Asn) c.909C>A c.647C>A (p.Thr216Asn) n.855C>A | |
1 | g.62634838T>A | CA340621991 | DOCK7 | c.640A>T (p.Thr214Ser) c.970A>T (p.Thr324Ser) c.908A>T c.646A>T (p.Thr216Ser) n.854A>T | |
1 | g.62634838T>C | CA340621993 | DOCK7 | c.640A>G (p.Thr214Ala) c.970A>G (p.Thr324Ala) c.908A>G c.646A>G (p.Thr216Ala) n.854A>G | |
1 | g.62634838T>G | CA340621995 | DOCK7 | c.640A>C (p.Thr214Pro) c.970A>C (p.Thr324Pro) c.908A>C c.646A>C (p.Thr216Pro) n.854A>C | |
1 | g.62634839A>C | CA418006472 | DOCK7 | c.639T>G (p.Thr213=) c.969T>G (p.Thr323=) c.907T>G c.645T>G (p.Thr215=) n.853T>G | |
1 | g.62634839A>G | CA418006473 | DOCK7 | c.639T>C (p.Thr213=) c.969T>C (p.Thr323=) c.907T>C c.645T>C (p.Thr215=) n.853T>C | |
1 | g.62634839A>T | CA418006474 | DOCK7 | c.639T>A (p.Thr213=) c.969T>A (p.Thr323=) c.907T>A c.645T>A (p.Thr215=) n.853T>A | |
1 | g.62634840G>A | CA340621997 | DOCK7 | c.638C>T (p.Thr213Ile) c.968C>T (p.Thr323Ile) c.906C>T c.644C>T (p.Thr215Ile) n.852C>T |