Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14141665C>A | CA351536488 | TMEM43 | c.*1103C>A (n.*1103C>A) c.1073C>A (p.Ser358Ter) n.327+2368C>A c.236+2368C>A c.968C>A (p.Ser323Ter) | |
3 | g.14141665C= | CA1346973844 | TMEM43 | c.*1103C= (n.*1103C=) c.1073C= (p.Ser358=) n.327+2368C= c.236+2368C= c.968C= (p.Ser323=) | |
3 | g.14141665C>G | CA351536489 | TMEM43 | c.*1103C>G (n.*1103C>G) c.1073C>G (p.Ser358Trp) n.327+2368C>G c.236+2368C>G c.968C>G (p.Ser323Trp) | |
3 | g.14141665C>T | CA024568 | TMEM43 | c.*1103C>T (n.*1103C>T) c.1073C>T (p.Ser358Leu) n.327+2368C>T c.236+2368C>T c.968C>T (p.Ser323Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.14141666G>A | CA051118 | TMEM43 | c.*1104G>A (n.*1104G>A) c.1074G>A (p.Ser358=) n.327+2369G>A c.236+2369G>A c.969G>A (p.Ser323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141666G>C | CA432552966 | TMEM43 | c.*1104G>C (n.*1104G>C) c.1074G>C (p.Ser358=) n.327+2369G>C c.236+2369G>C c.969G>C (p.Ser323=) | |
3 | g.14141666G= | CA1346973845 | TMEM43 | c.*1104G= (n.*1104G=) c.1074G= (p.Ser358=) n.327+2369G= c.236+2369G= c.969G= (p.Ser323=) | |
3 | g.14141666G>T | CA432552967 | TMEM43 | c.*1104G>T (n.*1104G>T) c.1074G>T (p.Ser358=) n.327+2369G>T c.236+2369G>T c.969G>T (p.Ser323=) | |
3 | g.14141667C>A | CA351536490 | TMEM43 | c.*1105C>A (n.*1105C>A) c.1075C>A (p.Leu359Met) n.327+2370C>A c.236+2370C>A c.970C>A (p.Leu324Met) | |
3 | g.14141667C= | CA1346973846 | TMEM43 | c.*1105C= (n.*1105C=) c.1075C= (p.Leu359=) n.327+2370C= c.236+2370C= c.970C= (p.Leu324=) | |
3 | g.14141667C>G | CA351536491 | TMEM43 | c.*1105C>G (n.*1105C>G) c.1075C>G (p.Leu359Val) n.327+2370C>G c.236+2370C>G c.970C>G (p.Leu324Val) | |
3 | g.14141667C>T | CA051129 | TMEM43 | c.*1105C>T (n.*1105C>T) c.1075C>T (p.Leu359=) n.327+2370C>T c.236+2370C>T c.970C>T (p.Leu324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141668T>A | CA351536494 | TMEM43 | c.*1106T>A (n.*1106T>A) c.1076T>A (p.Leu359Gln) n.327+2371T>A c.236+2371T>A c.971T>A (p.Leu324Gln) | |
3 | g.14141668T>C | CA351536493 | TMEM43 | c.*1106T>C (n.*1106T>C) c.1076T>C (p.Leu359Pro) n.327+2371T>C c.236+2371T>C c.971T>C (p.Leu324Pro) | gnomAD v4 |
3 | g.14141668T>G | CA351536492 | TMEM43 | c.*1106T>G (n.*1106T>G) c.1076T>G (p.Leu359Arg) n.327+2371T>G c.236+2371T>G c.971T>G (p.Leu324Arg) | |
3 | g.14141669G>A | CA432552976 | TMEM43 | c.*1107G>A (n.*1107G>A) c.1077G>A (p.Leu359=) n.327+2372G>A c.236+2372G>A c.972G>A (p.Leu324=) | |
3 | g.14141669G>C | CA432552978 | TMEM43 | c.*1107G>C (n.*1107G>C) c.1077G>C (p.Leu359=) n.327+2372G>C c.236+2372G>C c.972G>C (p.Leu324=) | ClinVar gnomAD v4 |
3 | g.14141669G>T | CA432552979 | TMEM43 | c.*1107G>T (n.*1107G>T) c.1077G>T (p.Leu359=) n.327+2372G>T c.236+2372G>T c.972G>T (p.Leu324=) | |
3 | g.14141670A>C | CA351536495 | TMEM43 | c.*1108A>C (n.*1108A>C) c.1078A>C (p.Thr360Pro) n.327+2373A>C c.236+2373A>C c.973A>C (p.Thr325Pro) | |
3 | g.14141670A>G | CA351536496 | TMEM43 | c.*1108A>G (n.*1108A>G) c.1078A>G (p.Thr360Ala) n.327+2373A>G c.236+2373A>G c.973A>G (p.Thr325Ala) | |
3 | g.14141670A>T | CA351536497 | TMEM43 | c.*1108A>T (n.*1108A>T) c.1078A>T (p.Thr360Ser) n.327+2373A>T c.236+2373A>T c.973A>T (p.Thr325Ser) | |
3 | g.14141671C>A | CA351536498 | TMEM43 | c.*1109C>A (n.*1109C>A) c.1079C>A (p.Thr360Asn) n.327+2374C>A c.236+2374C>A c.974C>A (p.Thr325Asn) | gnomAD v4 |
3 | g.14141671C= | CA1346973847 | TMEM43 | c.*1109C= (n.*1109C=) c.1079C= (p.Thr360=) n.327+2374C= c.236+2374C= c.974C= (p.Thr325=) | |
3 | g.14141671C>G | CA351536499 | TMEM43 | c.*1109C>G (n.*1109C>G) c.1079C>G (p.Thr360Ser) n.327+2374C>G c.236+2374C>G c.974C>G (p.Thr325Ser) | |
3 | g.14141671C>T | CA351536500 | TMEM43 | c.*1109C>T (n.*1109C>T) c.1079C>T (p.Thr360Ile) n.327+2374C>T c.236+2374C>T c.974C>T (p.Thr325Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14141672C>A | CA432552982 | TMEM43 | c.*1110C>A (n.*1110C>A) c.1080C>A (p.Thr360=) n.327+2375C>A c.236+2375C>A c.975C>A (p.Thr325=) | |
3 | g.14141672C= | CA1346973848 | TMEM43 | c.*1110C= (n.*1110C=) c.1080C= (p.Thr360=) n.327+2375C= c.236+2375C= c.975C= (p.Thr325=) | |
3 | g.14141672C>G | CA432552984 | TMEM43 | c.*1110C>G (n.*1110C>G) c.1080C>G (p.Thr360=) n.327+2375C>G c.236+2375C>G c.975C>G (p.Thr325=) | |
3 | g.14141672C>T | CA051140 | TMEM43 | c.*1110C>T (n.*1110C>T) c.1080C>T (p.Thr360=) n.327+2375C>T c.236+2375C>T c.975C>T (p.Thr325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141673C>A | CA351536501 | TMEM43 | c.*1111C>A (n.*1111C>A) c.1081C>A (p.Leu361Met) n.327+2376C>A c.236+2376C>A c.976C>A (p.Leu326Met) | |
3 | g.14141673C>G | CA351536502 | TMEM43 | c.*1111C>G (n.*1111C>G) c.1081C>G (p.Leu361Val) n.327+2376C>G c.236+2376C>G c.976C>G (p.Leu326Val) | |
3 | g.14141673C>T | CA432552985 | TMEM43 | c.*1111C>T (n.*1111C>T) c.1081C>T (p.Leu361=) n.327+2376C>T c.236+2376C>T c.976C>T (p.Leu326=) | |
3 | g.14141674T>A | CA351536503 | TMEM43 | c.*1112T>A (n.*1112T>A) c.1082T>A (p.Leu361Gln) n.327+2377T>A c.236+2377T>A c.977T>A (p.Leu326Gln) | |
3 | g.14141674T>C | CA351536505 | TMEM43 | c.*1112T>C (n.*1112T>C) c.1082T>C (p.Leu361Pro) n.327+2377T>C c.236+2377T>C c.977T>C (p.Leu326Pro) | |
3 | g.14141674T>G | CA351536504 | TMEM43 | c.*1112T>G (n.*1112T>G) c.1082T>G (p.Leu361Arg) n.327+2377T>G c.236+2377T>G c.977T>G (p.Leu326Arg) | gnomAD v4 |
3 | g.14141675G>A | CA432552986 | TMEM43 | c.*1113G>A (n.*1113G>A) c.1083G>A (p.Leu361=) n.327+2378G>A c.236+2378G>A c.978G>A (p.Leu326=) | |
3 | g.14141675G>C | CA432552988 | TMEM43 | c.*1113G>C (n.*1113G>C) c.1083G>C (p.Leu361=) n.327+2378G>C c.236+2378G>C c.978G>C (p.Leu326=) | gnomAD v4 |
3 | g.14141675G>T | CA432552989 | TMEM43 | c.*1113G>T (n.*1113G>T) c.1083G>T (p.Leu361=) n.327+2378G>T c.236+2378G>T c.978G>T (p.Leu326=) | |
3 | g.14141676C>A | CA351536506 | TMEM43 | c.*1114C>A (n.*1114C>A) c.1084C>A (p.Leu362Met) n.327+2379C>A c.236+2379C>A c.979C>A (p.Leu327Met) | |
3 | g.14141676C>G | CA351536507 | TMEM43 | c.*1114C>G (n.*1114C>G) c.1084C>G (p.Leu362Val) n.327+2379C>G c.236+2379C>G c.979C>G (p.Leu327Val) | |
3 | g.14141676C>T | CA432552990 | TMEM43 | c.*1114C>T (n.*1114C>T) c.1084C>T (p.Leu362=) n.327+2379C>T c.236+2379C>T c.979C>T (p.Leu327=) | |
3 | g.14141677T>A | CA351536508 | TMEM43 | c.*1115T>A (n.*1115T>A) c.1085T>A (p.Leu362Gln) n.327+2380T>A c.236+2380T>A c.980T>A (p.Leu327Gln) | |
3 | g.14141677T>C | CA351536509 | TMEM43 | c.*1115T>C (n.*1115T>C) c.1085T>C (p.Leu362Pro) n.327+2380T>C c.236+2380T>C c.980T>C (p.Leu327Pro) | |
3 | g.14141677T>G | CA051146 | TMEM43 | c.*1115T>G (n.*1115T>G) c.1085T>G (p.Leu362Arg) n.327+2380T>G c.236+2380T>G c.980T>G (p.Leu327Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141677T= | CA1346973849 | TMEM43 | c.*1115T= (n.*1115T=) c.1085T= (p.Leu362=) n.327+2380T= c.236+2380T= c.980T= (p.Leu327=) | |
3 | g.14141678G>A | CA432552992 | TMEM43 | c.*1116G>A (n.*1116G>A) c.1086G>A (p.Leu362=) n.327+2381G>A c.236+2381G>A c.981G>A (p.Leu327=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14141678G>C | CA432552993 | TMEM43 | c.*1116G>C (n.*1116G>C) c.1086G>C (p.Leu362=) n.327+2381G>C c.236+2381G>C c.981G>C (p.Leu327=) | |
3 | g.14141678G= | CA1346973850 | TMEM43 | c.*1116G= (n.*1116G=) c.1086G= (p.Leu362=) n.327+2381G= c.236+2381G= c.981G= (p.Leu327=) | |
3 | g.14141678G>T | CA432552994 | TMEM43 | c.*1116G>T (n.*1116G>T) c.1086G>T (p.Leu362=) n.327+2381G>T c.236+2381G>T c.981G>T (p.Leu327=) | |
3 | g.14141679A>C | CA351536510 | TMEM43 | c.*1117A>C (n.*1117A>C) c.1087A>C (p.Thr363Pro) n.327+2382A>C c.236+2382A>C c.982A>C (p.Thr328Pro) |