| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.14141613C>A | CA432552839 | TMEM43 | c.*1051C>A (n.*1051C>A) c.1021C>A (p.Arg341=) n.327+2316C>A c.236+2316C>A c.916C>A (p.Arg306=) | dbSNP |
| 3 | g.14141613C= | CA1346973821 | TMEM43 | c.*1051C= (n.*1051C=) c.1021C= (p.Arg341=) n.327+2316C= c.236+2316C= c.916C= (p.Arg306=) | |
| 3 | g.14141613C>G | CA351536387 | TMEM43 | c.*1051C>G (n.*1051C>G) c.1021C>G (p.Arg341Gly) n.327+2316C>G c.236+2316C>G c.916C>G (p.Arg306Gly) | |
| 3 | g.14141613C>T | CA050959 | TMEM43 | c.*1051C>T (n.*1051C>T) c.1021C>T (p.Arg341Ter) n.327+2316C>T c.236+2316C>T c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141614G>A | CA050968 | TMEM43 | c.*1052G>A (n.*1052G>A) c.1022G>A (p.Arg341Gln) n.327+2317G>A c.236+2317G>A c.917G>A (p.Arg306Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141614G>C | CA351536388 | TMEM43 | c.*1052G>C (n.*1052G>C) c.1022G>C (p.Arg341Pro) n.327+2317G>C c.236+2317G>C c.917G>C (p.Arg306Pro) | |
| 3 | g.14141614G= | CA1346973822 | TMEM43 | c.*1052G= (n.*1052G=) c.1022G= (p.Arg341=) n.327+2317G= c.236+2317G= c.917G= (p.Arg306=) | |
| 3 | g.14141614G>T | CA351536389 | TMEM43 | c.*1052G>T (n.*1052G>T) c.1022G>T (p.Arg341Leu) n.327+2317G>T c.236+2317G>T c.917G>T (p.Arg306Leu) | |
| 3 | g.14141615A>C | CA432552847 | TMEM43 | c.*1053A>C (n.*1053A>C) c.1023A>C (p.Arg341=) n.327+2318A>C c.236+2318A>C c.918A>C (p.Arg306=) | |
| 3 | g.14141615A>G | CA432552849 | TMEM43 | c.*1053A>G (n.*1053A>G) c.1023A>G (p.Arg341=) n.327+2318A>G c.236+2318A>G c.918A>G (p.Arg306=) | |
| 3 | g.14141615A>T | CA432552850 | TMEM43 | c.*1053A>T (n.*1053A>T) c.1023A>T (p.Arg341=) n.327+2318A>T c.236+2318A>T c.918A>T (p.Arg306=) | |
| 3 | g.14141616G>A | CA351536391 | TMEM43 | c.*1054G>A (n.*1054G>A) c.1024G>A (p.Asp342Asn) n.327+2319G>A c.236+2319G>A c.919G>A (p.Asp307Asn) | |
| 3 | g.14141616G>C | CA351536392 | TMEM43 | c.*1054G>C (n.*1054G>C) c.1024G>C (p.Asp342His) n.327+2319G>C c.236+2319G>C c.919G>C (p.Asp307His) | |
| 3 | g.14141616G>T | CA351536390 | TMEM43 | c.*1054G>T (n.*1054G>T) c.1024G>T (p.Asp342Tyr) n.327+2319G>T c.236+2319G>T c.919G>T (p.Asp307Tyr) | |
| 3 | g.14141617A>C | CA351536393 | TMEM43 | c.*1055A>C (n.*1055A>C) c.1025A>C (p.Asp342Ala) n.327+2320A>C c.236+2320A>C c.920A>C (p.Asp307Ala) | |
| 3 | g.14141617A>G | CA351536395 | TMEM43 | c.*1055A>G (n.*1055A>G) c.1025A>G (p.Asp342Gly) n.327+2320A>G c.236+2320A>G c.920A>G (p.Asp307Gly) | |
| 3 | g.14141617A>T | CA351536394 | TMEM43 | c.*1055A>T (n.*1055A>T) c.1025A>T (p.Asp342Val) n.327+2320A>T c.236+2320A>T c.920A>T (p.Asp307Val) | |
| 3 | g.14141618C>A | CA050984 | TMEM43 | c.*1056C>A (n.*1056C>A) c.1026C>A (p.Asp342Glu) n.327+2321C>A c.236+2321C>A c.921C>A (p.Asp307Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141618C= | CA1346973823 | TMEM43 | c.*1056C= (n.*1056C=) c.1026C= (p.Asp342=) n.327+2321C= c.236+2321C= c.921C= (p.Asp307=) | |
| 3 | g.14141618C>G | CA351536396 | TMEM43 | c.*1056C>G (n.*1056C>G) c.1026C>G (p.Asp342Glu) n.327+2321C>G c.236+2321C>G c.921C>G (p.Asp307Glu) | |
| 3 | g.14141618C>T | CA432552855 | TMEM43 | c.*1056C>T (n.*1056C>T) c.1026C>T (p.Asp342=) n.327+2321C>T c.236+2321C>T c.921C>T (p.Asp307=) | |
| 3 | g.14141619C>A | CA351536397 | TMEM43 | c.*1057C>A (n.*1057C>A) c.1027C>A (p.Leu343Met) n.327+2322C>A c.236+2322C>A c.922C>A (p.Leu308Met) | |
| 3 | g.14141619C>G | CA351536398 | TMEM43 | c.*1057C>G (n.*1057C>G) c.1027C>G (p.Leu343Val) n.327+2322C>G c.236+2322C>G c.922C>G (p.Leu308Val) | |
| 3 | g.14141619C>T | CA432552858 | TMEM43 | c.*1057C>T (n.*1057C>T) c.1027C>T (p.Leu343=) n.327+2322C>T c.236+2322C>T c.922C>T (p.Leu308=) | |
| 3 | g.14141620T>A | CA351536399 | TMEM43 | c.*1058T>A (n.*1058T>A) c.1028T>A (p.Leu343Gln) n.327+2323T>A c.236+2323T>A c.923T>A (p.Leu308Gln) | ClinVar |
| 3 | g.14141620T>C | CA050996 | TMEM43 | c.*1058T>C (n.*1058T>C) c.1028T>C (p.Leu343Pro) n.327+2323T>C c.236+2323T>C c.923T>C (p.Leu308Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141620T>G | CA351536400 | TMEM43 | c.*1058T>G (n.*1058T>G) c.1028T>G (p.Leu343Arg) n.327+2323T>G c.236+2323T>G c.923T>G (p.Leu308Arg) | |
| 3 | g.14141620T= | CA1346973824 | TMEM43 | c.*1058T= (n.*1058T=) c.1028T= (p.Leu343=) n.327+2323T= c.236+2323T= c.923T= (p.Leu308=) | |
| 3 | g.14141621G>A | CA432552859 | TMEM43 | c.*1059G>A (n.*1059G>A) c.1029G>A (p.Leu343=) n.327+2324G>A c.236+2324G>A c.924G>A (p.Leu308=) | |
| 3 | g.14141621G>C | CA432552861 | TMEM43 | c.*1059G>C (n.*1059G>C) c.1029G>C (p.Leu343=) n.327+2324G>C c.236+2324G>C c.924G>C (p.Leu308=) | |
| 3 | g.14141621G>T | CA432552862 | TMEM43 | c.*1059G>T (n.*1059G>T) c.1029G>T (p.Leu343=) n.327+2324G>T c.236+2324G>T c.924G>T (p.Leu308=) | |
| 3 | g.14141622G>A | CA351536401 | TMEM43 | c.*1060G>A (n.*1060G>A) c.1030G>A (p.Val344Ile) n.327+2325G>A c.236+2325G>A c.925G>A (p.Val309Ile) | |
| 3 | g.14141622G>C | CA351536402 | TMEM43 | c.*1060G>C (n.*1060G>C) c.1030G>C (p.Val344Leu) n.327+2325G>C c.236+2325G>C c.925G>C (p.Val309Leu) | |
| 3 | g.14141622G>T | CA351536403 | TMEM43 | c.*1060G>T (n.*1060G>T) c.1030G>T (p.Val344Phe) n.327+2325G>T c.236+2325G>T c.925G>T (p.Val309Phe) | |
| 3 | g.14141623T>A | CA351536405 | TMEM43 | c.*1061T>A (n.*1061T>A) c.1031T>A (p.Val344Asp) n.327+2326T>A c.236+2326T>A c.926T>A (p.Val309Asp) | |
| 3 | g.14141623T>C | CA351536404 | TMEM43 | c.*1061T>C (n.*1061T>C) c.1031T>C (p.Val344Ala) n.327+2326T>C c.236+2326T>C c.926T>C (p.Val309Ala) | |
| 3 | g.14141623T>G | CA051010 | TMEM43 | c.*1061T>G (n.*1061T>G) c.1031T>G (p.Val344Gly) n.327+2326T>G c.236+2326T>G c.926T>G (p.Val309Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141623T= | CA1346973825 | TMEM43 | c.*1061T= (n.*1061T=) c.1031T= (p.Val344=) n.327+2326T= c.236+2326T= c.926T= (p.Val309=) | |
| 3 | g.14141624C>A | CA432552868 | TMEM43 | c.*1062C>A (n.*1062C>A) c.1032C>A (p.Val344=) n.327+2327C>A c.236+2327C>A c.927C>A (p.Val309=) | |
| 3 | g.14141624C>G | CA432552869 | TMEM43 | c.*1062C>G (n.*1062C>G) c.1032C>G (p.Val344=) n.327+2327C>G c.236+2327C>G c.927C>G (p.Val309=) | gnomAD v4 |
| 3 | g.14141624C>T | CA432552870 | TMEM43 | c.*1062C>T (n.*1062C>T) c.1032C>T (p.Val344=) n.327+2327C>T c.236+2327C>T c.927C>T (p.Val309=) | |
| 3 | g.14141625A= | CA1346973826 | TMEM43 | c.*1063A= (n.*1063A=) c.1033A= (p.Asn345=) n.327+2328A= c.236+2328A= c.928A= (p.Asn310=) | |
| 3 | g.14141625A>C | CA351536406 | TMEM43 | c.*1063A>C (n.*1063A>C) c.1033A>C (p.Asn345His) n.327+2328A>C c.236+2328A>C c.928A>C (p.Asn310His) | |
| 3 | g.14141625A>G | CA351536407 | TMEM43 | c.*1063A>G (n.*1063A>G) c.1033A>G (p.Asn345Asp) n.327+2328A>G c.236+2328A>G c.928A>G (p.Asn310Asp) | dbSNP gnomAD v4 |
| 3 | g.14141625A>T | CA351536408 | TMEM43 | c.*1063A>T (n.*1063A>T) c.1033A>T (p.Asn345Tyr) n.327+2328A>T c.236+2328A>T c.928A>T (p.Asn310Tyr) | |
| 3 | g.14141626A= | CA1346973827 | TMEM43 | c.*1064A= (n.*1064A=) c.1034A= (p.Asn345=) n.327+2329A= c.236+2329A= c.929A= (p.Asn310=) | |
| 3 | g.14141626A>C | CA051026 | TMEM43 | c.*1064A>C (n.*1064A>C) c.1034A>C (p.Asn345Thr) n.327+2329A>C c.236+2329A>C c.929A>C (p.Asn310Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141626A>G | CA051038 | TMEM43 | c.*1064A>G (n.*1064A>G) c.1034A>G (p.Asn345Ser) n.327+2329A>G c.236+2329A>G c.929A>G (p.Asn310Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141626A>T | CA351536409 | TMEM43 | c.*1064A>T (n.*1064A>T) c.1034A>T (p.Asn345Ile) n.327+2329A>T c.236+2329A>T c.929A>T (p.Asn310Ile) | |
| 3 | g.14141627C>A | CA351536410 | TMEM43 | c.*1065C>A (n.*1065C>A) c.1035C>A (p.Asn345Lys) n.327+2330C>A c.236+2330C>A c.930C>A (p.Asn310Lys) |