UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.14141679A>G | CA351536511 | TMEM43 | c.*1117A>G (n.*1117A>G) c.1087A>G (p.Thr363Ala) n.327+2382A>G c.236+2382A>G c.982A>G (p.Thr328Ala) | |
| 3 | g.14141679A>T | CA351536512 | TMEM43 | c.*1117A>T (n.*1117A>T) c.1087A>T (p.Thr363Ser) n.327+2382A>T c.236+2382A>T c.982A>T (p.Thr328Ser) | |
| 3 | g.14141680C>A | CA351536513 | TMEM43 | c.*1118C>A (n.*1118C>A) c.1088C>A (p.Thr363Asn) n.327+2383C>A c.236+2383C>A c.983C>A (p.Thr328Asn) | dbSNP |
| 3 | g.14141680C= | CA1346973851 | TMEM43 | c.*1118C= (n.*1118C=) c.1088C= (p.Thr363=) n.327+2383C= c.236+2383C= c.983C= (p.Thr328=) | |
| 3 | g.14141680C>G | CA351536514 | TMEM43 | c.*1118C>G (n.*1118C>G) c.1088C>G (p.Thr363Ser) n.327+2383C>G c.236+2383C>G c.983C>G (p.Thr328Ser) | |
| 3 | g.14141680C>T | CA351536515 | TMEM43 | c.*1118C>T (n.*1118C>T) c.1088C>T (p.Thr363Ile) n.327+2383C>T c.236+2383C>T c.983C>T (p.Thr328Ile) | |
| 3 | g.14141681C>A | CA432552997 | TMEM43 | c.*1119C>A (n.*1119C>A) c.1089C>A (p.Thr363=) n.327+2384C>A c.236+2384C>A c.984C>A (p.Thr328=) | |
| 3 | g.14141681C= | CA1346973852 | TMEM43 | c.*1119C= (n.*1119C=) c.1089C= (p.Thr363=) n.327+2384C= c.236+2384C= c.984C= (p.Thr328=) | |
| 3 | g.14141681C>G | CA432552999 | TMEM43 | c.*1119C>G (n.*1119C>G) c.1089C>G (p.Thr363=) n.327+2384C>G c.236+2384C>G c.984C>G (p.Thr328=) | |
| 3 | g.14141681C>T | CA051156 | TMEM43 | c.*1119C>T (n.*1119C>T) c.1089C>T (p.Thr363=) n.327+2384C>T c.236+2384C>T c.984C>T (p.Thr328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141682G>A | CA024571 | TMEM43 | c.*1120G>A (n.*1120G>A) c.1090G>A (p.Val364Met) n.327+2385G>A c.236+2385G>A c.985G>A (p.Val329Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141682G>C | CA351536517 | TMEM43 | c.*1120G>C (n.*1120G>C) c.1090G>C (p.Val364Leu) n.327+2385G>C c.236+2385G>C c.985G>C (p.Val329Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141682G= | CA1346973853 | TMEM43 | c.*1120G= (n.*1120G=) c.1090G= (p.Val364=) n.327+2385G= c.236+2385G= c.985G= (p.Val329=) | |
| 3 | g.14141682G>T | CA351536516 | TMEM43 | c.*1120G>T (n.*1120G>T) c.1090G>T (p.Val364Leu) n.327+2385G>T c.236+2385G>T c.985G>T (p.Val329Leu) | gnomAD v4 COSMIC |
| 3 | g.14141683T>A | CA351536518 | TMEM43 | c.*1121T>A (n.*1121T>A) c.1091T>A (p.Val364Glu) n.327+2386T>A c.236+2386T>A c.986T>A (p.Val329Glu) | |
| 3 | g.14141683T>C | CA351536519 | TMEM43 | c.*1121T>C (n.*1121T>C) c.1091T>C (p.Val364Ala) n.327+2386T>C c.236+2386T>C c.986T>C (p.Val329Ala) | |
| 3 | g.14141683T>G | CA351536520 | TMEM43 | c.*1121T>G (n.*1121T>G) c.1091T>G (p.Val364Gly) n.327+2386T>G c.236+2386T>G c.986T>G (p.Val329Gly) | |
| 3 | g.14141684G>A | CA432553000 | TMEM43 | c.*1122G>A (n.*1122G>A) c.1092G>A (p.Val364=) n.327+2387G>A c.236+2387G>A c.987G>A (p.Val329=) | |
| 3 | g.14141684G>C | CA432553002 | TMEM43 | c.*1122G>C (n.*1122G>C) c.1092G>C (p.Val364=) n.327+2387G>C c.236+2387G>C c.987G>C (p.Val329=) | |
| 3 | g.14141684G>T | CA432553004 | TMEM43 | c.*1122G>T (n.*1122G>T) c.1092G>T (p.Val364=) n.327+2387G>T c.236+2387G>T c.987G>T (p.Val329=) | |
| 3 | g.14141685del | CA2755301348 | TMEM43 | c.*1123del (n.*1123del) c.1093del (p.Ala365ArgfsTer?) n.327+2388del c.236+2388del c.988del (p.Ala330ArgfsTer?) | |
| 3 | g.14141685G>A | CA351536521 | TMEM43 | c.*1123G>A (n.*1123G>A) c.1093G>A (p.Ala365Thr) n.327+2388G>A c.236+2388G>A c.988G>A (p.Ala330Thr) | |
| 3 | g.14141685G>C | CA351536522 | TMEM43 | c.*1123G>C (n.*1123G>C) c.1093G>C (p.Ala365Pro) n.327+2388G>C c.236+2388G>C c.988G>C (p.Ala330Pro) | |
| 3 | g.14141685G= | CA1346973854 | TMEM43 | c.*1123G= (n.*1123G=) c.1093G= (p.Ala365=) n.327+2388G= c.236+2388G= c.988G= (p.Ala330=) | |
| 3 | g.14141685G>T | CA351536523 | TMEM43 | c.*1123G>T (n.*1123G>T) c.1093G>T (p.Ala365Ser) n.327+2388G>T c.236+2388G>T c.988G>T (p.Ala330Ser) | |
| 3 | g.14141685_14141686insT | CA1346973856 | TMEM43 | c.*1123_*1124insT (n.*1123_*1124insT) c.1093_1094insT (p.Ala365ValfsTer?) n.327+2388_327+2389insT c.236+2388_236+2389insT c.988_989insT (p.Ala330ValfsTer?) | dbSNP |
| 3 | g.14141686C>A | CA351536524 | TMEM43 | c.*1124C>A (n.*1124C>A) c.1094C>A (p.Ala365Glu) n.327+2389C>A c.236+2389C>A c.989C>A (p.Ala330Glu) | |
| 3 | g.14141686C= | CA1346973855 | TMEM43 | c.*1124C= (n.*1124C=) c.1094C= (p.Ala365=) n.327+2389C= c.236+2389C= c.989C= (p.Ala330=) | |
| 3 | g.14141686C>G | CA351536525 | TMEM43 | c.*1124C>G (n.*1124C>G) c.1094C>G (p.Ala365Gly) n.327+2389C>G c.236+2389C>G c.989C>G (p.Ala330Gly) | |
| 3 | g.14141686C>T | CA69738163 | TMEM43 | c.*1124C>T (n.*1124C>T) c.1094C>T (p.Ala365Val) n.327+2389C>T c.236+2389C>T c.989C>T (p.Ala330Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.14141687G>A | CA024574 | TMEM43 | c.*1125G>A (n.*1125G>A) c.1095G>A (p.Ala365=) n.327+2390G>A c.236+2390G>A c.990G>A (p.Ala330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141687G>C | CA432553007 | TMEM43 | c.*1125G>C (n.*1125G>C) c.1095G>C (p.Ala365=) n.327+2390G>C c.236+2390G>C c.990G>C (p.Ala330=) | |
| 3 | g.14141687G= | CA1346973857 | TMEM43 | c.*1125G= (n.*1125G=) c.1095G= (p.Ala365=) n.327+2390G= c.236+2390G= c.990G= (p.Ala330=) | |
| 3 | g.14141687G>T | CA432553006 | TMEM43 | c.*1125G>T (n.*1125G>T) c.1095G>T (p.Ala365=) n.327+2390G>T c.236+2390G>T c.990G>T (p.Ala330=) | |
| 3 | g.14141688G>A | CA024577 | TMEM43 | c.*1126G>A (n.*1126G>A) c.1096G>A (p.Ala366Thr) n.327+2391G>A c.236+2391G>A c.991G>A (p.Ala331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141688G>C | CA351536527 | TMEM43 | c.*1126G>C (n.*1126G>C) c.1096G>C (p.Ala366Pro) n.327+2391G>C c.236+2391G>C c.991G>C (p.Ala331Pro) | |
| 3 | g.14141688G= | CA1346973858 | TMEM43 | c.*1126G= (n.*1126G=) c.1096G= (p.Ala366=) n.327+2391G= c.236+2391G= c.991G= (p.Ala331=) | |
| 3 | g.14141688G>T | CA351536526 | TMEM43 | c.*1126G>T (n.*1126G>T) c.1096G>T (p.Ala366Ser) n.327+2391G>T c.236+2391G>T c.991G>T (p.Ala331Ser) | gnomAD v4 COSMIC |
| 3 | g.14141689C>A | CA351536528 | TMEM43 | c.*1127C>A (n.*1127C>A) c.1097C>A (p.Ala366Asp) n.327+2392C>A c.236+2392C>A c.992C>A (p.Ala331Asp) | |
| 3 | g.14141689C= | CA1346973859 | TMEM43 | c.*1127C= (n.*1127C=) c.1097C= (p.Ala366=) n.327+2392C= c.236+2392C= c.992C= (p.Ala331=) | |
| 3 | g.14141689C>G | CA351536529 | TMEM43 | c.*1127C>G (n.*1127C>G) c.1097C>G (p.Ala366Gly) n.327+2392C>G c.236+2392C>G c.992C>G (p.Ala331Gly) | gnomAD v4 |
| 3 | g.14141689C>T | CA69738171 | TMEM43 | c.*1127C>T (n.*1127C>T) c.1097C>T (p.Ala366Val) n.327+2392C>T c.236+2392C>T c.992C>T (p.Ala331Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141690T>A | CA432553010 | TMEM43 | c.*1128T>A (n.*1128T>A) c.1098T>A (p.Ala366=) n.327+2393T>A c.236+2393T>A c.993T>A (p.Ala331=) | |
| 3 | g.14141690T>C | CA432553011 | TMEM43 | c.*1128T>C (n.*1128T>C) c.1098T>C (p.Ala366=) n.327+2393T>C c.236+2393T>C c.993T>C (p.Ala331=) | |
| 3 | g.14141690T>G | CA432553013 | TMEM43 | c.*1128T>G (n.*1128T>G) c.1098T>G (p.Ala366=) n.327+2393T>G c.236+2393T>G c.993T>G (p.Ala331=) | |
| 3 | g.14141691G>A | CA351536530 | TMEM43 | c.*1129G>A (n.*1129G>A) c.1099G>A (p.Gly367Ser) n.327+2394G>A c.236+2394G>A c.994G>A (p.Gly332Ser) | |
| 3 | g.14141691G>C | CA351536531 | TMEM43 | c.*1129G>C (n.*1129G>C) c.1099G>C (p.Gly367Arg) n.327+2394G>C c.236+2394G>C c.994G>C (p.Gly332Arg) | dbSNP |
| 3 | g.14141691G= | CA1346973860 | TMEM43 | c.*1129G= (n.*1129G=) c.1099G= (p.Gly367=) n.327+2394G= c.236+2394G= c.994G= (p.Gly332=) | |
| 3 | g.14141691G>T | CA351536532 | TMEM43 | c.*1129G>T (n.*1129G>T) c.1099G>T (p.Gly367Cys) n.327+2394G>T c.236+2394G>T c.994G>T (p.Gly332Cys) | |
| 3 | g.14141692G>A | CA024580 | TMEM43 | c.*1130G>A (n.*1130G>A) c.1100G>A (p.Gly367Asp) n.327+2395G>A c.236+2395G>A c.995G>A (p.Gly332Asp) | ClinVar dbSNP gnomAD v2 |
| 3 | g.14141692G>C | CA351536533 | TMEM43 | c.*1130G>C (n.*1130G>C) c.1100G>C (p.Gly367Ala) n.327+2395G>C c.236+2395G>C c.995G>C (p.Gly332Ala) | |
| 3 | g.14141692G= | CA1346973861 | TMEM43 | c.*1130G= (n.*1130G=) c.1100G= (p.Gly367=) n.327+2395G= c.236+2395G= c.995G= (p.Gly332=) | |
| 3 | g.14141692G>T | CA351536534 | TMEM43 | c.*1130G>T (n.*1130G>T) c.1100G>T (p.Gly367Val) n.327+2395G>T c.236+2395G>T c.995G>T (p.Gly332Val) | |
| 3 | g.14141693C>A | CA432553015 | TMEM43 | c.*1131C>A (n.*1131C>A) c.1101C>A (p.Gly367=) n.327+2396C>A c.236+2396C>A c.996C>A (p.Gly332=) | |
| 3 | g.14141693C>G | CA432553016 | TMEM43 | c.*1131C>G (n.*1131C>G) c.1101C>G (p.Gly367=) n.327+2396C>G c.236+2396C>G c.996C>G (p.Gly332=) | |
| 3 | g.14141693C>T | CA432553018 | TMEM43 | c.*1131C>T (n.*1131C>T) c.1101C>T (p.Gly367=) n.327+2396C>T c.236+2396C>T c.996C>T (p.Gly332=) | |
| 3 | g.14141694T>A | CA351536535 | TMEM43 | c.*1132T>A (n.*1132T>A) c.1102T>A (p.Trp368Arg) n.327+2397T>A c.236+2397T>A c.997T>A (p.Trp333Arg) | |
| 3 | g.14141694T>C | CA351536536 | TMEM43 | c.*1132T>C (n.*1132T>C) c.1102T>C (p.Trp368Arg) n.327+2397T>C c.236+2397T>C c.997T>C (p.Trp333Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141694T>G | CA351536537 | TMEM43 | c.*1132T>G (n.*1132T>G) c.1102T>G (p.Trp368Gly) n.327+2397T>G c.236+2397T>G c.997T>G (p.Trp333Gly) | |
| 3 | g.14141694T= | CA1346973862 | TMEM43 | c.*1132T= (n.*1132T=) c.1102T= (p.Trp368=) n.327+2397T= c.236+2397T= c.997T= (p.Trp333=) | |
| 3 | g.14141695G>A | CA351536539 | TMEM43 | c.*1133G>A (n.*1133G>A) c.1103G>A (p.Trp368Ter) n.327+2398G>A c.236+2398G>A c.998G>A (p.Trp333Ter) | COSMIC |
| 3 | g.14141695G>C | CA351536540 | TMEM43 | c.*1133G>C (n.*1133G>C) c.1103G>C (p.Trp368Ser) n.327+2398G>C c.236+2398G>C c.998G>C (p.Trp333Ser) | |
| 3 | g.14141695G>T | CA351536538 | TMEM43 | c.*1133G>T (n.*1133G>T) c.1103G>T (p.Trp368Leu) n.327+2398G>T c.236+2398G>T c.998G>T (p.Trp333Leu) | |
| 3 | g.14141695_14141697delinsGGC | CA1346973863 | TMEM43 | c.*1133_*1135delinsGGC (n.*1133_*1135delinsGGC) c.1103_1105delinsGGC (p.Trp368=) n.327+2398_327+2400delinsGGC c.236+2398_236+2400delinsGGC c.998_1000delinsGGC (p.Trp333=) | |
| 3 | g.14141696G>A | CA351536541 | TMEM43 | c.*1134G>A (n.*1134G>A) c.1104G>A (p.Trp368Ter) n.327+2399G>A c.236+2399G>A c.999G>A (p.Trp333Ter) | |
| 3 | g.14141696G>C | CA351536542 | TMEM43 | c.*1134G>C (n.*1134G>C) c.1104G>C (p.Trp368Cys) n.327+2399G>C c.236+2399G>C c.999G>C (p.Trp333Cys) | gnomAD v4 |
| 3 | g.14141696G>T | CA351536543 | TMEM43 | c.*1134G>T (n.*1134G>T) c.1104G>T (p.Trp368Cys) n.327+2399G>T c.236+2399G>T c.999G>T (p.Trp333Cys) | |
| 3 | g.14141696_14141697del | CA1346973864 | TMEM43 | c.*1134_*1135del (n.*1134_*1135del) c.1104_1105del (p.Trp368CysfsTer?) n.327+2399_327+2400del c.236+2399_236+2400del c.999_1000del (p.Trp333CysfsTer?) | dbSNP |
| 3 | g.14141697C>A | CA351536544 | TMEM43 | c.*1135C>A (n.*1135C>A) c.1105C>A (p.Leu369Ile) n.327+2400C>A c.236+2400C>A c.1000C>A (p.Leu334Ile) | |
| 3 | g.14141697C= | CA1346973865 | TMEM43 | c.*1135C= (n.*1135C=) c.1105C= (p.Leu369=) n.327+2400C= c.236+2400C= c.1000C= (p.Leu334=) | |
| 3 | g.14141697C>G | CA351536545 | TMEM43 | c.*1135C>G (n.*1135C>G) c.1105C>G (p.Leu369Val) n.327+2400C>G c.236+2400C>G c.1000C>G (p.Leu334Val) | |
| 3 | g.14141697C>T | CA024584 | TMEM43 | c.*1135C>T (n.*1135C>T) c.1105C>T (p.Leu369Phe) n.327+2400C>T c.236+2400C>T c.1000C>T (p.Leu334Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141698T>A | CA351536548 | TMEM43 | c.*1136T>A (n.*1136T>A) c.1106T>A (p.Leu369His) n.327+2401T>A c.236+2401T>A c.1001T>A (p.Leu334His) | |
| 3 | g.14141698T>C | CA351536546 | TMEM43 | c.*1136T>C (n.*1136T>C) c.1106T>C (p.Leu369Pro) n.327+2401T>C c.236+2401T>C c.1001T>C (p.Leu334Pro) | |
| 3 | g.14141698T>G | CA351536547 | TMEM43 | c.*1136T>G (n.*1136T>G) c.1106T>G (p.Leu369Arg) n.327+2401T>G c.236+2401T>G c.1001T>G (p.Leu334Arg) | |
| 3 | g.14141699C>A | CA432553021 | TMEM43 | c.*1137C>A (n.*1137C>A) c.1107C>A (p.Leu369=) n.327+2402C>A c.236+2402C>A c.1002C>A (p.Leu334=) | |
| 3 | g.14141699C>G | CA432553022 | TMEM43 | c.*1137C>G (n.*1137C>G) c.1107C>G (p.Leu369=) n.327+2402C>G c.236+2402C>G c.1002C>G (p.Leu334=) | |
| 3 | g.14141699C>T | CA432553023 | TMEM43 | c.*1137C>T (n.*1137C>T) c.1107C>T (p.Leu369=) n.327+2402C>T c.236+2402C>T c.1002C>T (p.Leu334=) | |
| 3 | g.14141700T>A | CA351536549 | TMEM43 | c.*1138T>A (n.*1138T>A) c.1108T>A (p.Phe370Ile) n.327+2403T>A c.236+2403T>A c.1003T>A (p.Phe335Ile) | |
| 3 | g.14141700T>C | CA351536550 | TMEM43 | c.*1138T>C (n.*1138T>C) c.1108T>C (p.Phe370Leu) n.327+2403T>C c.236+2403T>C c.1003T>C (p.Phe335Leu) | |
| 3 | g.14141700T>G | CA351536551 | TMEM43 | c.*1138T>G (n.*1138T>G) c.1108T>G (p.Phe370Val) n.327+2403T>G c.236+2403T>G c.1003T>G (p.Phe335Val) | |
| 3 | g.14141701del | CA2664571095 | TMEM43 | c.*1139del (n.*1139del) c.1109del (p.Phe370SerfsTer?) n.327+2404del c.236+2404del c.1004del (p.Phe335SerfsTer?) | gnomAD v4 |
| 3 | g.14141701T>A | CA351536552 | TMEM43 | c.*1139T>A (n.*1139T>A) c.1109T>A (p.Phe370Tyr) n.327+2404T>A c.236+2404T>A c.1004T>A (p.Phe335Tyr) | |
| 3 | g.14141701T>C | CA351536553 | TMEM43 | c.*1139T>C (n.*1139T>C) c.1109T>C (p.Phe370Ser) n.327+2404T>C c.236+2404T>C c.1004T>C (p.Phe335Ser) | |
| 3 | g.14141701T>G | CA351536554 | TMEM43 | c.*1139T>G (n.*1139T>G) c.1109T>G (p.Phe370Cys) n.327+2404T>G c.236+2404T>G c.1004T>G (p.Phe335Cys) | |
| 3 | g.14141702del | CA2664571096 | TMEM43 | c.*1140del (n.*1140del) c.1110del (p.Tyr371ThrfsTer?) n.327+2405del c.236+2405del c.1005del (p.Tyr336ThrfsTer?) | gnomAD v4 |
| 3 | g.14141702C>A | CA351536555 | TMEM43 | c.*1140C>A (n.*1140C>A) c.1110C>A (p.Phe370Leu) n.327+2405C>A c.236+2405C>A c.1005C>A (p.Phe335Leu) | |
| 3 | g.14141702C= | CA1346973866 | TMEM43 | c.*1140C= (n.*1140C=) c.1110C= (p.Phe370=) n.327+2405C= c.236+2405C= c.1005C= (p.Phe335=) | |
| 3 | g.14141702C>G | CA051204 | TMEM43 | c.*1140C>G (n.*1140C>G) c.1110C>G (p.Phe370Leu) n.327+2405C>G c.236+2405C>G c.1005C>G (p.Phe335Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141702C>T | CA432553024 | TMEM43 | c.*1140C>T (n.*1140C>T) c.1110C>T (p.Phe370=) n.327+2405C>T c.236+2405C>T c.1005C>T (p.Phe335=) | |
| 3 | g.14141702_14141703insGG | CA1346973867 | TMEM43 | c.*1140_*1141insGG (n.*1140_*1141insGG) c.1110_1111insGG (p.Tyr371GlyfsTer?) n.327+2405_327+2406insGG c.236+2405_236+2406insGG c.1005_1006insGG (p.Tyr336GlyfsTer?) | dbSNP |
| 3 | g.14141703T>A | CA351536556 | TMEM43 | c.*1141T>A (n.*1141T>A) c.1111T>A (p.Tyr371Asn) n.327+2406T>A c.236+2406T>A c.1006T>A (p.Tyr336Asn) | |
| 3 | g.14141703T>C | CA024587 | TMEM43 | c.*1141T>C (n.*1141T>C) c.1111T>C (p.Tyr371His) n.327+2406T>C c.236+2406T>C c.1006T>C (p.Tyr336His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141703T>G | CA351536557 | TMEM43 | c.*1141T>G (n.*1141T>G) c.1111T>G (p.Tyr371Asp) n.327+2406T>G c.236+2406T>G c.1006T>G (p.Tyr336Asp) | |
| 3 | g.14141703T= | CA1346973868 | TMEM43 | c.*1141T= (n.*1141T=) c.1111T= (p.Tyr371=) n.327+2406T= c.236+2406T= c.1006T= (p.Tyr336=) | |
| 3 | g.14141703_14141704insG | CA1346973869 | TMEM43 | c.*1141_*1142insG (n.*1141_*1142insG) c.1111_1112insG (p.Tyr371Ter) n.327+2406_327+2407insG c.236+2406_236+2407insG c.1006_1007insG (p.Tyr336Ter) | dbSNP |
| 3 | g.14141704A= | CA1346973870 | TMEM43 | c.*1142A= (n.*1142A=) c.1112A= (p.Tyr371=) n.327+2407A= c.236+2407A= c.1007A= (p.Tyr336=) | |
| 3 | g.14141704A>C | CA051230 | TMEM43 | c.*1142A>C (n.*1142A>C) c.1112A>C (p.Tyr371Ser) n.327+2407A>C c.236+2407A>C c.1007A>C (p.Tyr336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141704A>G | CA051242 | TMEM43 | c.*1142A>G (n.*1142A>G) c.1112A>G (p.Tyr371Cys) n.327+2407A>G c.236+2407A>G c.1007A>G (p.Tyr336Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141704A>T | CA351536558 | TMEM43 | c.*1142A>T (n.*1142A>T) c.1112A>T (p.Tyr371Phe) n.327+2407A>T c.236+2407A>T c.1007A>T (p.Tyr336Phe) | |
| 3 | g.14141704_14141706delinsACC | CA1346973871 | TMEM43 | c.*1142_*1144delinsACC (n.*1142_*1144delinsACC) c.1112_1114delinsACC (p.Tyr371=) n.327+2407_327+2409delinsACC c.236+2407_236+2409delinsACC c.1007_1009delinsACC (p.Tyr336=) | |
| 3 | g.14141705C>A | CA351536559 | TMEM43 | c.*1143C>A (n.*1143C>A) c.1113C>A (p.Tyr371Ter) n.327+2408C>A c.236+2408C>A c.1008C>A (p.Tyr336Ter) | |
| 3 | g.14141705C= | CA1346973872 | TMEM43 | c.*1143C= (n.*1143C=) c.1113C= (p.Tyr371=) n.327+2408C= c.236+2408C= c.1008C= (p.Tyr336=) | |
| 3 | g.14141705C>G | CA351536560 | TMEM43 | c.*1143C>G (n.*1143C>G) c.1113C>G (p.Tyr371Ter) n.327+2408C>G c.236+2408C>G c.1008C>G (p.Tyr336Ter) | |
| 3 | g.14141705C>T | CA432553026 | TMEM43 | c.*1143C>T (n.*1143C>T) c.1113C>T (p.Tyr371=) n.327+2408C>T c.236+2408C>T c.1008C>T (p.Tyr336=) | dbSNP |
| 3 | g.14141705_14141706del | CA1346973873 | TMEM43 | c.*1143_*1144del (n.*1143_*1144del) c.1113_1114del (p.Tyr371Ter) n.327+2408_327+2409del c.236+2408_236+2409del c.1008_1009del (p.Tyr336Ter) | dbSNP |
| 3 | g.14141706C>A | CA432553027 | TMEM43 | c.*1144C>A (n.*1144C>A) c.1114C>A (p.Arg372=) n.327+2409C>A c.236+2409C>A c.1009C>A (p.Arg337=) | gnomAD v4 |
| 3 | g.14141706C= | CA1346973874 | TMEM43 | c.*1144C= (n.*1144C=) c.1114C= (p.Arg372=) n.327+2409C= c.236+2409C= c.1009C= (p.Arg337=) | |
| 3 | g.14141706C>G | CA351536561 | TMEM43 | c.*1144C>G (n.*1144C>G) c.1114C>G (p.Arg372Gly) n.327+2409C>G c.236+2409C>G c.1009C>G (p.Arg337Gly) | |
| 3 | g.14141706C>T | CA051252 | TMEM43 | c.*1144C>T (n.*1144C>T) c.1114C>T (p.Arg372Ter) n.327+2409C>T c.236+2409C>T c.1009C>T (p.Arg337Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141707G>A | CA024591 | TMEM43 | c.*1145G>A (n.*1145G>A) c.1115G>A (p.Arg372Gln) n.327+2410G>A c.236+2410G>A c.1010G>A (p.Arg337Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141707G>C | CA351536562 | TMEM43 | c.*1145G>C (n.*1145G>C) c.1115G>C (p.Arg372Pro) n.327+2410G>C c.236+2410G>C c.1010G>C (p.Arg337Pro) | gnomAD v4 |
| 3 | g.14141707G= | CA1346973875 | TMEM43 | c.*1145G= (n.*1145G=) c.1115G= (p.Arg372=) n.327+2410G= c.236+2410G= c.1010G= (p.Arg337=) | |
| 3 | g.14141707G>T | CA351536563 | TMEM43 | c.*1145G>T (n.*1145G>T) c.1115G>T (p.Arg372Leu) n.327+2410G>T c.236+2410G>T c.1010G>T (p.Arg337Leu) | |
| 3 | g.14141708A= | CA1346973876 | TMEM43 | c.*1146A= (n.*1146A=) c.1116A= (p.Arg372=) n.327+2411A= c.236+2411A= c.1011A= (p.Arg337=) | |
| 3 | g.14141708A>C | CA432553028 | TMEM43 | c.*1146A>C (n.*1146A>C) c.1116A>C (p.Arg372=) n.327+2411A>C c.236+2411A>C c.1011A>C (p.Arg337=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141708A>G | CA432553029 | TMEM43 | c.*1146A>G (n.*1146A>G) c.1116A>G (p.Arg372=) n.327+2411A>G c.236+2411A>G c.1011A>G (p.Arg337=) | |
| 3 | g.14141708A>T | CA432553030 | TMEM43 | c.*1146A>T (n.*1146A>T) c.1116A>T (p.Arg372=) n.327+2411A>T c.236+2411A>T c.1011A>T (p.Arg337=) | |
| 3 | g.14141708_14141709delinsAC | CA1346973877 | TMEM43 | c.*1146_*1147delinsAC (n.*1146_*1147delinsAC) c.1116_1117delinsAC (p.Arg372=) n.327+2411_327+2412delinsAC c.236+2411_236+2412delinsAC c.1011_1012delinsAC (p.Arg337=) | |
| 3 | g.14141708_14141721dup | CA2577516636 | TMEM43 | c.*1146_*1159dup (n.*1146_*1159dup) c.1116_1129dup (p.Leu377HisfsTer?) n.327+2411_327+2424dup c.236+2411_236+2424dup c.1011_1024dup (p.Leu342HisfsTer?) | ClinVar gnomAD v4 |
| 3 | g.14141709C>A | CA051271 | TMEM43 | c.*1147C>A (n.*1147C>A) c.1117C>A (p.Pro373Thr) n.327+2412C>A c.236+2412C>A c.1012C>A (p.Pro338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141709C= | CA1346973878 | TMEM43 | c.*1147C= (n.*1147C=) c.1117C= (p.Pro373=) n.327+2412C= c.236+2412C= c.1012C= (p.Pro338=) | |
| 3 | g.14141709C>G | CA351536564 | TMEM43 | c.*1147C>G (n.*1147C>G) c.1117C>G (p.Pro373Ala) n.327+2412C>G c.236+2412C>G c.1012C>G (p.Pro338Ala) | |
| 3 | g.14141709C>T | CA351536565 | TMEM43 | c.*1147C>T (n.*1147C>T) c.1117C>T (p.Pro373Ser) n.327+2412C>T c.236+2412C>T c.1012C>T (p.Pro338Ser) | |
| 3 | g.14141712del | CA1139657904 | TMEM43 | c.*1150del (n.*1150del) c.1120del (p.Leu374CysfsTer?) n.327+2415del c.236+2415del c.1015del (p.Leu339CysfsTer?) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141710C>A | CA351536568 | TMEM43 | c.*1148C>A (n.*1148C>A) c.1118C>A (p.Pro373His) n.327+2413C>A c.236+2413C>A c.1013C>A (p.Pro338His) | |
| 3 | g.14141710C= | CA1346973879 | TMEM43 | c.*1148C= (n.*1148C=) c.1118C= (p.Pro373=) n.327+2413C= c.236+2413C= c.1013C= (p.Pro338=) | |
| 3 | g.14141710C>G | CA351536567 | TMEM43 | c.*1148C>G (n.*1148C>G) c.1118C>G (p.Pro373Arg) n.327+2413C>G c.236+2413C>G c.1013C>G (p.Pro338Arg) | dbSNP |
| 3 | g.14141710C>T | CA351536566 | TMEM43 | c.*1148C>T (n.*1148C>T) c.1118C>T (p.Pro373Leu) n.327+2413C>T c.236+2413C>T c.1013C>T (p.Pro338Leu) | gnomAD v4 COSMIC |
| 3 | g.14141711C>A | CA432553031 | TMEM43 | c.*1149C>A (n.*1149C>A) c.1119C>A (p.Pro373=) n.327+2414C>A c.236+2414C>A c.1014C>A (p.Pro338=) | ClinVar |
| 3 | g.14141711C= | CA1346973881 | TMEM43 | c.*1149C= (n.*1149C=) c.1119C= (p.Pro373=) n.327+2414C= c.236+2414C= c.1014C= (p.Pro338=) | |
| 3 | g.14141711C>G | CA432553032 | TMEM43 | c.*1149C>G (n.*1149C>G) c.1119C>G (p.Pro373=) n.327+2414C>G c.236+2414C>G c.1014C>G (p.Pro338=) | |
| 3 | g.14141711C>T | CA432553033 | TMEM43 | c.*1149C>T (n.*1149C>T) c.1119C>T (p.Pro373=) n.327+2414C>T c.236+2414C>T c.1014C>T (p.Pro338=) | |
| 3 | g.14141711_14141713delinsCCT | CA1346973880 | TMEM43 | c.*1149_*1151delinsCCT (n.*1149_*1151delinsCCT) c.1119_1121delinsCCT (p.Pro373=) n.327+2414_327+2416delinsCCT c.236+2414_236+2416delinsCCT c.1014_1016delinsCCT (p.Pro338=) | |
| 3 | g.14141712C>A | CA351536569 | TMEM43 | c.*1150C>A (n.*1150C>A) c.1120C>A (p.Leu374Met) n.327+2415C>A c.236+2415C>A c.1015C>A (p.Leu339Met) | |
| 3 | g.14141712C>G | CA351536570 | TMEM43 | c.*1150C>G (n.*1150C>G) c.1120C>G (p.Leu374Val) n.327+2415C>G c.236+2415C>G c.1015C>G (p.Leu339Val) | |
| 3 | g.14141712C>T | CA432553034 | TMEM43 | c.*1150C>T (n.*1150C>T) c.1120C>T (p.Leu374=) n.327+2415C>T c.236+2415C>T c.1015C>T (p.Leu339=) | |
| 3 | g.14141712_14141713del | CA051278 | TMEM43 | c.*1150_*1151del (n.*1150_*1151del) c.1120_1121del (p.Leu374ValfsTer?) n.327+2415_327+2416del c.236+2415_236+2416del c.1015_1016del (p.Leu339ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141712_14141713dup | CA1346973882 | TMEM43 | c.*1150_*1151dup (n.*1150_*1151dup) c.1120_1121dup (p.Trp375CysfsTer?) n.327+2415_327+2416dup c.236+2415_236+2416dup c.1015_1016dup (p.Trp340CysfsTer?) | dbSNP |
| 3 | g.14141713T>A | CA351536571 | TMEM43 | c.*1151T>A (n.*1151T>A) c.1121T>A (p.Leu374Gln) n.327+2416T>A c.236+2416T>A c.1016T>A (p.Leu339Gln) | |
| 3 | g.14141713T>C | CA351536572 | TMEM43 | c.*1151T>C (n.*1151T>C) c.1121T>C (p.Leu374Pro) n.327+2416T>C c.236+2416T>C c.1016T>C (p.Leu339Pro) | ClinVar dbSNP |
| 3 | g.14141713T>G | CA351536573 | TMEM43 | c.*1151T>G (n.*1151T>G) c.1121T>G (p.Leu374Arg) n.327+2416T>G c.236+2416T>G c.1016T>G (p.Leu339Arg) | |
| 3 | g.14141714G>A | CA432553035 | TMEM43 | c.*1152G>A (n.*1152G>A) c.1122G>A (p.Leu374=) n.327+2417G>A c.236+2417G>A c.1017G>A (p.Leu339=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141714G>C | CA432553036 | TMEM43 | c.*1152G>C (n.*1152G>C) c.1122G>C (p.Leu374=) n.327+2417G>C c.236+2417G>C c.1017G>C (p.Leu339=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141714G= | CA1346973883 | TMEM43 | c.*1152G= (n.*1152G=) c.1122G= (p.Leu374=) n.327+2417G= c.236+2417G= c.1017G= (p.Leu339=) | |
| 3 | g.14141714G>T | CA432553037 | TMEM43 | c.*1152G>T (n.*1152G>T) c.1122G>T (p.Leu374=) n.327+2417G>T c.236+2417G>T c.1017G>T (p.Leu339=) | |
| 3 | g.14141715T>A | CA351536574 | TMEM43 | c.*1153T>A (n.*1153T>A) c.1123T>A (p.Trp375Arg) n.327+2418T>A c.236+2418T>A c.1018T>A (p.Trp340Arg) | |
| 3 | g.14141715T>C | CA351536575 | TMEM43 | c.*1153T>C (n.*1153T>C) c.1123T>C (p.Trp375Arg) n.327+2418T>C c.236+2418T>C c.1018T>C (p.Trp340Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141715T>G | CA351536576 | TMEM43 | c.*1153T>G (n.*1153T>G) c.1123T>G (p.Trp375Gly) n.327+2418T>G c.236+2418T>G c.1018T>G (p.Trp340Gly) | |
| 3 | g.14141715T= | CA1346973884 | TMEM43 | c.*1153T= (n.*1153T=) c.1123T= (p.Trp375=) n.327+2418T= c.236+2418T= c.1018T= (p.Trp340=) | |
| 3 | g.14141716G>A | CA351536577 | TMEM43 | c.*1154G>A (n.*1154G>A) c.1124G>A (p.Trp375Ter) n.327+2419G>A c.236+2419G>A c.1019G>A (p.Trp340Ter) | ClinVar dbSNP |
| 3 | g.14141716G>C | CA351536578 | TMEM43 | c.*1154G>C (n.*1154G>C) c.1124G>C (p.Trp375Ser) n.327+2419G>C c.236+2419G>C c.1019G>C (p.Trp340Ser) | dbSNP |
| 3 | g.14141716G= | CA1346973885 | TMEM43 | c.*1154G= (n.*1154G=) c.1124G= (p.Trp375=) n.327+2419G= c.236+2419G= c.1019G= (p.Trp340=) | |
| 3 | g.14141716G>T | CA351536579 | TMEM43 | c.*1154G>T (n.*1154G>T) c.1124G>T (p.Trp375Leu) n.327+2419G>T c.236+2419G>T c.1019G>T (p.Trp340Leu) | gnomAD v4 |
| 3 | g.14141717G>A | CA351536581 | TMEM43 | c.*1155G>A (n.*1155G>A) c.1125G>A (p.Trp375Ter) n.327+2420G>A c.236+2420G>A c.1020G>A (p.Trp340Ter) | |
| 3 | g.14141717G>C | CA351536582 | TMEM43 | c.*1155G>C (n.*1155G>C) c.1125G>C (p.Trp375Cys) n.327+2420G>C c.236+2420G>C c.1020G>C (p.Trp340Cys) | |
| 3 | g.14141717G= | CA1346973886 | TMEM43 | c.*1155G= (n.*1155G=) c.1125G= (p.Trp375=) n.327+2420G= c.236+2420G= c.1020G= (p.Trp340=) | |
| 3 | g.14141717G>T | CA351536580 | TMEM43 | c.*1155G>T (n.*1155G>T) c.1125G>T (p.Trp375Cys) n.327+2420G>T c.236+2420G>T c.1020G>T (p.Trp340Cys) | |
| 3 | g.14141717_14141718insCT | CA1346973887 | TMEM43 | c.*1155_*1156insCT (n.*1155_*1156insCT) c.1125_1126insCT (p.Ala376LeufsTer?) n.327+2420_327+2421insCT c.236+2420_236+2421insCT c.1020_1021insCT (p.Ala341LeufsTer?) | dbSNP |
| 3 | g.14141718G>A | CA351536583 | TMEM43 | c.*1156G>A (n.*1156G>A) c.1126G>A (p.Ala376Thr) n.327+2421G>A c.236+2421G>A c.1021G>A (p.Ala341Thr) | |
| 3 | g.14141718G>C | CA351536584 | TMEM43 | c.*1156G>C (n.*1156G>C) c.1126G>C (p.Ala376Pro) n.327+2421G>C c.236+2421G>C c.1021G>C (p.Ala341Pro) | |
| 3 | g.14141718G>T | CA351536585 | TMEM43 | c.*1156G>T (n.*1156G>T) c.1126G>T (p.Ala376Ser) n.327+2421G>T c.236+2421G>T c.1021G>T (p.Ala341Ser) | |
| 3 | g.14141719C>A | CA351536586 | TMEM43 | c.*1157C>A (n.*1157C>A) c.1127C>A (p.Ala376Asp) n.327+2422C>A c.236+2422C>A c.1022C>A (p.Ala341Asp) | ClinVar |
| 3 | g.14141719C= | CA1346973888 | TMEM43 | c.*1157C= (n.*1157C=) c.1127C= (p.Ala376=) n.327+2422C= c.236+2422C= c.1022C= (p.Ala341=) | |
| 3 | g.14141719C>G | CA351536587 | TMEM43 | c.*1157C>G (n.*1157C>G) c.1127C>G (p.Ala376Gly) n.327+2422C>G c.236+2422C>G c.1022C>G (p.Ala341Gly) | |
| 3 | g.14141719C>T | CA351536588 | TMEM43 | c.*1157C>T (n.*1157C>T) c.1127C>T (p.Ala376Val) n.327+2422C>T c.236+2422C>T c.1022C>T (p.Ala341Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141719_14141720insAG | CA1346973889 | TMEM43 | c.*1157_*1158insAG (n.*1157_*1158insAG) c.1127_1128insAG (p.Leu377AlafsTer?) n.327+2422_327+2423insAG c.236+2422_236+2423insAG c.1022_1023insAG (p.Leu342AlafsTer?) | dbSNP |
| 3 | g.14141720C>A | CA432553039 | TMEM43 | c.*1158C>A (n.*1158C>A) c.1128C>A (p.Ala376=) n.327+2423C>A c.236+2423C>A c.1023C>A (p.Ala341=) | |
| 3 | g.14141720C= | CA1346973890 | TMEM43 | c.*1158C= (n.*1158C=) c.1128C= (p.Ala376=) n.327+2423C= c.236+2423C= c.1023C= (p.Ala341=) | |
| 3 | g.14141720C>G | CA432553038 | TMEM43 | c.*1158C>G (n.*1158C>G) c.1128C>G (p.Ala376=) n.327+2423C>G c.236+2423C>G c.1023C>G (p.Ala341=) | |
| 3 | g.14141720C>T | CA69738207 | TMEM43 | c.*1158C>T (n.*1158C>T) c.1128C>T (p.Ala376=) n.327+2423C>T c.236+2423C>T c.1023C>T (p.Ala341=) | dbSNP gnomAD v4 |
| 3 | g.14141724_14141726del | CA2577516637 | TMEM43 | c.*1162_*1164del (n.*1162_*1164del) c.1132_1134del (p.Leu378del) n.327+2427_327+2429del c.236+2427_236+2429del c.1027_1029del (p.Leu343del) | gnomAD v4 |
| 3 | g.14141720_14141721insAG | CA1346973891 | TMEM43 | c.*1158_*1159insAG (n.*1158_*1159insAG) c.1128_1129insAG (p.Leu377SerfsTer?) n.327+2423_327+2424insAG c.236+2423_236+2424insAG c.1023_1024insAG (p.Leu342SerfsTer?) | dbSNP |
| 3 | g.14141721C>A | CA351536589 | TMEM43 | c.*1159C>A (n.*1159C>A) c.1129C>A (p.Leu377Ile) n.327+2424C>A c.236+2424C>A c.1024C>A (p.Leu342Ile) | |
| 3 | g.14141721C= | CA1346973892 | TMEM43 | c.*1159C= (n.*1159C=) c.1129C= (p.Leu377=) n.327+2424C= c.236+2424C= c.1024C= (p.Leu342=) | |
| 3 | g.14141721C>G | CA351536590 | TMEM43 | c.*1159C>G (n.*1159C>G) c.1129C>G (p.Leu377Val) n.327+2424C>G c.236+2424C>G c.1024C>G (p.Leu342Val) | |
| 3 | g.14141721C>T | CA351536591 | TMEM43 | c.*1159C>T (n.*1159C>T) c.1129C>T (p.Leu377Phe) n.327+2424C>T c.236+2424C>T c.1024C>T (p.Leu342Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141722T>A | CA351536592 | TMEM43 | c.*1160T>A (n.*1160T>A) c.1130T>A (p.Leu377His) n.327+2425T>A c.236+2425T>A c.1025T>A (p.Leu342His) | |
| 3 | g.14141722T>C | CA351536593 | TMEM43 | c.*1160T>C (n.*1160T>C) c.1130T>C (p.Leu377Pro) n.327+2425T>C c.236+2425T>C c.1025T>C (p.Leu342Pro) | |
| 3 | g.14141722T>G | CA351536594 | TMEM43 | c.*1160T>G (n.*1160T>G) c.1130T>G (p.Leu377Arg) n.327+2425T>G c.236+2425T>G c.1025T>G (p.Leu342Arg) | |
| 3 | g.14141723C>A | CA432553041 | TMEM43 | c.*1161C>A (n.*1161C>A) c.1131C>A (p.Leu377=) n.327+2426C>A c.236+2426C>A c.1026C>A (p.Leu342=) | |
| 3 | g.14141723C>G | CA432553042 | TMEM43 | c.*1161C>G (n.*1161C>G) c.1131C>G (p.Leu377=) n.327+2426C>G c.236+2426C>G c.1026C>G (p.Leu342=) | gnomAD v4 |
| 3 | g.14141723C>T | CA432553040 | TMEM43 | c.*1161C>T (n.*1161C>T) c.1131C>T (p.Leu377=) n.327+2426C>T c.236+2426C>T c.1026C>T (p.Leu342=) | gnomAD v4 |
| 3 | g.14141723_14141729delinsCCTCATT | CA1346973893 | TMEM43 | c.*1161_*1167delinsCCTCATT (n.*1161_*1167delinsCCTCATT) c.1131_1137delinsCCTCATT (p.Leu377=) n.327+2426_327+2432delinsCCTCATT c.236+2426_236+2432delinsCCTCATT c.1026_1032delinsCCTCATT (p.Leu342=) | |
| 3 | g.14141724C>A | CA351536596 | TMEM43 | c.*1162C>A (n.*1162C>A) c.1132C>A (p.Leu378Ile) n.327+2427C>A c.236+2427C>A c.1027C>A (p.Leu343Ile) | |
| 3 | g.14141724C= | CA1346973895 | TMEM43 | c.*1162C= (n.*1162C=) c.1132C= (p.Leu378=) n.327+2427C= c.236+2427C= c.1027C= (p.Leu343=) | |
| 3 | g.14141724C>G | CA051290 | TMEM43 | c.*1162C>G (n.*1162C>G) c.1132C>G (p.Leu378Val) n.327+2427C>G c.236+2427C>G c.1027C>G (p.Leu343Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141724C>T | CA351536595 | TMEM43 | c.*1162C>T (n.*1162C>T) c.1132C>T (p.Leu378Phe) n.327+2427C>T c.236+2427C>T c.1027C>T (p.Leu343Phe) | |
| 3 | g.14141724_14141729del | CA1346973894 | TMEM43 | c.*1162_*1167del (n.*1162_*1167del) c.1132_1137del (p.Leu378_Ile379del) n.327+2427_327+2432del c.236+2427_236+2432del c.1027_1032del (p.Leu343_Ile344del) | dbSNP |
| 3 | g.14141725T>A | CA351536597 | TMEM43 | c.*1163T>A (n.*1163T>A) c.1133T>A (p.Leu378His) n.327+2428T>A c.236+2428T>A c.1028T>A (p.Leu343His) | |
| 3 | g.14141725T>C | CA351536598 | TMEM43 | c.*1163T>C (n.*1163T>C) c.1133T>C (p.Leu378Pro) n.327+2428T>C c.236+2428T>C c.1028T>C (p.Leu343Pro) | |
| 3 | g.14141725T>G | CA351536599 | TMEM43 | c.*1163T>G (n.*1163T>G) c.1133T>G (p.Leu378Arg) n.327+2428T>G c.236+2428T>G c.1028T>G (p.Leu343Arg) | |
| 3 | g.14141726C>A | CA432553043 | TMEM43 | c.*1164C>A (n.*1164C>A) c.1134C>A (p.Leu378=) n.327+2429C>A c.236+2429C>A c.1029C>A (p.Leu343=) | |
| 3 | g.14141726C>G | CA432553044 | TMEM43 | c.*1164C>G (n.*1164C>G) c.1134C>G (p.Leu378=) n.327+2429C>G c.236+2429C>G c.1029C>G (p.Leu343=) | |
| 3 | g.14141726C>T | CA432553045 | TMEM43 | c.*1164C>T (n.*1164C>T) c.1134C>T (p.Leu378=) n.327+2429C>T c.236+2429C>T c.1029C>T (p.Leu343=) | |
| 3 | g.14141727A= | CA1346973896 | TMEM43 | c.*1165A= (n.*1165A=) c.1135A= (p.Ile379=) n.327+2430A= c.236+2430A= c.1030A= (p.Ile344=) | |
| 3 | g.14141727A>C | CA351536600 | TMEM43 | c.*1165A>C (n.*1165A>C) c.1135A>C (p.Ile379Leu) n.327+2430A>C c.236+2430A>C c.1030A>C (p.Ile344Leu) | |
| 3 | g.14141727A>G | CA051299 | TMEM43 | c.*1165A>G (n.*1165A>G) c.1135A>G (p.Ile379Val) n.327+2430A>G c.236+2430A>G c.1030A>G (p.Ile344Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141727A>T | CA351536601 | TMEM43 | c.*1165A>T (n.*1165A>T) c.1135A>T (p.Ile379Phe) n.327+2430A>T c.236+2430A>T c.1030A>T (p.Ile344Phe) | |
| 3 | g.14141728T>A | CA351536602 | TMEM43 | c.*1166T>A (n.*1166T>A) c.1136T>A (p.Ile379Asn) n.327+2431T>A c.236+2431T>A n.1T>A c.1031T>A (p.Ile344Asn) | |
| 3 | g.14141728T>C | CA351536604 | TMEM43 | c.*1166T>C (n.*1166T>C) c.1136T>C (p.Ile379Thr) n.327+2431T>C c.236+2431T>C n.1T>C c.1031T>C (p.Ile344Thr) | ClinVar |
| 3 | g.14141728T>G | CA351536603 | TMEM43 | c.*1166T>G (n.*1166T>G) c.1136T>G (p.Ile379Ser) n.327+2431T>G c.236+2431T>G n.1T>G c.1031T>G (p.Ile344Ser) | |
| 3 | g.14141729T>A | CA432553046 | TMEM43 | c.*1167T>A (n.*1167T>A) c.1137T>A (p.Ile379=) n.327+2432T>A c.236+2432T>A n.2T>A c.1032T>A (p.Ile344=) | |
| 3 | g.14141729T>C | CA432553047 | TMEM43 | c.*1167T>C (n.*1167T>C) c.1137T>C (p.Ile379=) n.327+2432T>C c.236+2432T>C n.2T>C c.1032T>C (p.Ile344=) | |
| 3 | g.14141729T>G | CA351536605 | TMEM43 | c.*1167T>G (n.*1167T>G) c.1137T>G (p.Ile379Met) n.327+2432T>G c.236+2432T>G n.2T>G c.1032T>G (p.Ile344Met) | |
| 3 | g.14141730G>A | CA351536606 | TMEM43 | c.*1168G>A (n.*1168G>A) c.1138G>A (p.Ala380Thr) n.327+2433G>A c.236+2433G>A n.3G>A c.1033G>A (p.Ala345Thr) | |
| 3 | g.14141730G>C | CA351536607 | TMEM43 | c.*1168G>C (n.*1168G>C) c.1138G>C (p.Ala380Pro) n.327+2433G>C c.236+2433G>C n.3G>C c.1033G>C (p.Ala345Pro) | |
| 3 | g.14141730G= | CA1346973897 | TMEM43 | c.*1168G= (n.*1168G=) c.1138G= (p.Ala380=) n.327+2433G= c.236+2433G= n.3G= c.1033G= (p.Ala345=) | |
| 3 | g.14141730G>T | CA351536608 | TMEM43 | c.*1168G>T (n.*1168G>T) c.1138G>T (p.Ala380Ser) n.327+2433G>T c.236+2433G>T n.3G>T c.1033G>T (p.Ala345Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141731C>A | CA351536611 | TMEM43 | c.*1169C>A (n.*1169C>A) c.1139C>A (p.Ala380Asp) n.327+2434C>A c.236+2434C>A n.4C>A c.1034C>A (p.Ala345Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141731C= | CA1346973898 | TMEM43 | c.*1169C= (n.*1169C=) c.1139C= (p.Ala380=) n.327+2434C= c.236+2434C= n.4C= c.1034C= (p.Ala345=) | |
| 3 | g.14141731C>G | CA351536610 | TMEM43 | c.*1169C>G (n.*1169C>G) c.1139C>G (p.Ala380Gly) n.327+2434C>G c.236+2434C>G n.4C>G c.1034C>G (p.Ala345Gly) | ClinVar gnomAD v4 |
| 3 | g.14141731C>T | CA351536609 | TMEM43 | c.*1169C>T (n.*1169C>T) c.1139C>T (p.Ala380Val) n.327+2434C>T c.236+2434C>T n.4C>T c.1034C>T (p.Ala345Val) | |
| 3 | g.14141732C>A | CA432553048 | TMEM43 | c.*1170C>A (n.*1170C>A) c.1140C>A (p.Ala380=) n.327+2435C>A c.236+2435C>A n.5C>A c.1035C>A (p.Ala345=) | |
| 3 | g.14141732C= | CA1346973899 | TMEM43 | c.*1170C= (n.*1170C=) c.1140C= (p.Ala380=) n.327+2435C= c.236+2435C= n.5C= c.1035C= (p.Ala345=) | |
| 3 | g.14141732C>G | CA432553049 | TMEM43 | c.*1170C>G (n.*1170C>G) c.1140C>G (p.Ala380=) n.327+2435C>G c.236+2435C>G n.5C>G c.1035C>G (p.Ala345=) | |
| 3 | g.14141732C>T | CA69738216 | TMEM43 | c.*1170C>T (n.*1170C>T) c.1140C>T (p.Ala380=) n.327+2435C>T c.236+2435C>T n.5C>T c.1035C>T (p.Ala345=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.14141733G>A | CA024594 | TMEM43 | c.*1171G>A (n.*1171G>A) c.1141G>A (p.Gly381Ser) n.327+2436G>A c.236+2436G>A n.6G>A c.1036G>A (p.Gly346Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141733G>C | CA351536612 | TMEM43 | c.*1171G>C (n.*1171G>C) c.1141G>C (p.Gly381Arg) n.327+2436G>C c.236+2436G>C n.6G>C c.1036G>C (p.Gly346Arg) | |
| 3 | g.14141733G= | CA1346973900 | TMEM43 | c.*1171G= (n.*1171G=) c.1141G= (p.Gly381=) n.327+2436G= c.236+2436G= n.6G= c.1036G= (p.Gly346=) | |
| 3 | g.14141733G>T | CA351536613 | TMEM43 | c.*1171G>T (n.*1171G>T) c.1141G>T (p.Gly381Cys) n.327+2436G>T c.236+2436G>T n.6G>T c.1036G>T (p.Gly346Cys) | gnomAD v4 |
| 3 | g.14141734dup | CA051310 | TMEM43 | c.*1172dup (n.*1172dup) c.1142dup (p.Leu382ProfsTer?) n.327+2437dup c.236+2437dup n.7dup c.1037dup (p.Leu347ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141734G>A | CA351536614 | TMEM43 | c.*1172G>A (n.*1172G>A) c.1142G>A (p.Gly381Asp) n.327+2437G>A c.236+2437G>A n.7G>A c.1037G>A (p.Gly346Asp) | |
| 3 | g.14141734G>C | CA351536615 | TMEM43 | c.*1172G>C (n.*1172G>C) c.1142G>C (p.Gly381Ala) n.327+2437G>C c.236+2437G>C n.7G>C c.1037G>C (p.Gly346Ala) | |
| 3 | g.14141734G>T | CA351536616 | TMEM43 | c.*1172G>T (n.*1172G>T) c.1142G>T (p.Gly381Val) n.327+2437G>T c.236+2437G>T n.7G>T c.1037G>T (p.Gly346Val) | |
| 3 | g.14141735C>A | CA432553050 | TMEM43 | c.*1173C>A (n.*1173C>A) c.1143C>A (p.Gly381=) n.327+2438C>A c.236+2438C>A n.8C>A c.1038C>A (p.Gly346=) | |
| 3 | g.14141735C>G | CA432553051 | TMEM43 | c.*1173C>G (n.*1173C>G) c.1143C>G (p.Gly381=) n.327+2438C>G c.236+2438C>G n.8C>G c.1038C>G (p.Gly346=) | |
| 3 | g.14141735C>T | CA432553052 | TMEM43 | c.*1173C>T (n.*1173C>T) c.1143C>T (p.Gly381=) n.327+2438C>T c.236+2438C>T n.8C>T c.1038C>T (p.Gly346=) | gnomAD v4 |
| 3 | g.14141736C>A | CA351536617 | TMEM43 | c.*1174C>A (n.*1174C>A) c.1144C>A (p.Leu382Met) n.327+2439C>A c.236+2439C>A n.9C>A c.1039C>A (p.Leu347Met) | |
| 3 | g.14141736C= | CA1346973901 | TMEM43 | c.*1174C= (n.*1174C=) c.1144C= (p.Leu382=) n.327+2439C= c.236+2439C= n.9C= c.1039C= (p.Leu347=) | |
| 3 | g.14141736C>G | CA051334 | TMEM43 | c.*1174C>G (n.*1174C>G) c.1144C>G (p.Leu382Val) n.327+2439C>G c.236+2439C>G n.9C>G c.1039C>G (p.Leu347Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141736C>T | CA432553053 | TMEM43 | c.*1174C>T (n.*1174C>T) c.1144C>T (p.Leu382=) n.327+2439C>T c.236+2439C>T n.9C>T c.1039C>T (p.Leu347=) | |
| 3 | g.14141737del | CA2664571100 | TMEM43 | c.*1175del (n.*1175del) c.1145del (p.Leu382ArgfsTer?) n.327+2440del c.236+2440del n.10del c.1040del (p.Leu347ArgfsTer?) | gnomAD v4 |
| 3 | g.14141737T>A | CA351536618 | TMEM43 | c.*1175T>A (n.*1175T>A) c.1145T>A (p.Leu382Gln) n.327+2440T>A c.236+2440T>A n.10T>A c.1040T>A (p.Leu347Gln) | |
| 3 | g.14141737T>C | CA351536619 | TMEM43 | c.*1175T>C (n.*1175T>C) c.1145T>C (p.Leu382Pro) n.327+2440T>C c.236+2440T>C n.10T>C c.1040T>C (p.Leu347Pro) | |
| 3 | g.14141737T>G | CA351536620 | TMEM43 | c.*1175T>G (n.*1175T>G) c.1145T>G (p.Leu382Arg) n.327+2440T>G c.236+2440T>G n.10T>G c.1040T>G (p.Leu347Arg) | |
| 3 | g.14141738G>A | CA432553054 | TMEM43 | c.*1176G>A (n.*1176G>A) c.1146G>A (p.Leu382=) n.327+2441G>A c.236+2441G>A n.11G>A c.1041G>A (p.Leu347=) | |
| 3 | g.14141738G>C | CA432553055 | TMEM43 | c.*1176G>C (n.*1176G>C) c.1146G>C (p.Leu382=) n.327+2441G>C c.236+2441G>C n.11G>C c.1041G>C (p.Leu347=) | gnomAD v4 |
| 3 | g.14141738G>T | CA432553056 | TMEM43 | c.*1176G>T (n.*1176G>T) c.1146G>T (p.Leu382=) n.327+2441G>T c.236+2441G>T n.11G>T c.1041G>T (p.Leu347=) | |
| 3 | g.14141739G>A | CA351536621 | TMEM43 | c.*1177G>A (n.*1177G>A) c.1147G>A (p.Ala383Thr) n.327+2442G>A c.236+2442G>A n.12G>A c.1042G>A (p.Ala348Thr) | ClinVar dbSNP |
| 3 | g.14141739G>C | CA351536622 | TMEM43 | c.*1177G>C (n.*1177G>C) c.1147G>C (p.Ala383Pro) n.327+2442G>C c.236+2442G>C n.12G>C c.1042G>C (p.Ala348Pro) | |
| 3 | g.14141739G= | CA1346973902 | TMEM43 | c.*1177G= (n.*1177G=) c.1147G= (p.Ala383=) n.327+2442G= c.236+2442G= n.12G= c.1042G= (p.Ala348=) | |
| 3 | g.14141739G>T | CA351536623 | TMEM43 | c.*1177G>T (n.*1177G>T) c.1147G>T (p.Ala383Ser) n.327+2442G>T c.236+2442G>T n.12G>T c.1042G>T (p.Ala348Ser) | |
| 3 | g.14141740C>A | CA351536624 | TMEM43 | c.*1178C>A (n.*1178C>A) c.1148C>A (p.Ala383Asp) n.327+2443C>A c.236+2443C>A n.13C>A c.1043C>A (p.Ala348Asp) | |
| 3 | g.14141740C>G | CA351536626 | TMEM43 | c.*1178C>G (n.*1178C>G) c.1148C>G (p.Ala383Gly) n.327+2443C>G c.236+2443C>G n.13C>G c.1043C>G (p.Ala348Gly) | |
| 3 | g.14141740C>T | CA351536625 | TMEM43 | c.*1178C>T (n.*1178C>T) c.1148C>T (p.Ala383Val) n.327+2443C>T c.236+2443C>T n.13C>T c.1043C>T (p.Ala348Val) | |
| 3 | g.14141741C>A | CA432553057 | TMEM43 | c.*1179C>A (n.*1179C>A) c.1149C>A (p.Ala383=) n.327+2444C>A c.236+2444C>A n.14C>A c.1044C>A (p.Ala348=) | ClinVar |
| 3 | g.14141741C= | CA1346973903 | TMEM43 | c.*1179C= (n.*1179C=) c.1149C= (p.Ala383=) n.327+2444C= c.236+2444C= n.14C= c.1044C= (p.Ala348=) | |
| 3 | g.14141741C>G | CA432553058 | TMEM43 | c.*1179C>G (n.*1179C>G) c.1149C>G (p.Ala383=) n.327+2444C>G c.236+2444C>G n.14C>G c.1044C>G (p.Ala348=) | |
| 3 | g.14141741C>T | CA432553059 | TMEM43 | c.*1179C>T (n.*1179C>T) c.1149C>T (p.Ala383=) n.327+2444C>T c.236+2444C>T n.14C>T c.1044C>T (p.Ala348=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141741_14141742delinsCC | CA1346973904 | TMEM43 | c.*1179_*1180delinsCC (n.*1179_*1180delinsCC) c.1149_1150delinsCC (p.Ala383=) n.327+2444_327+2445delinsCC c.236+2444_236+2445delinsCC n.14_15delinsCC c.1044_1045delinsCC (p.Ala348=) | |
| 3 | g.14141741_14141742delinsTA | CA1139657905 | TMEM43 | c.*1179_*1180delinsTA (n.*1179_*1180delinsTA) c.1149_1150delinsTA (p.Leu384Ile) n.327+2444_327+2445delinsTA c.236+2444_236+2445delinsTA n.14_15delinsTA c.1044_1045delinsTA (p.Leu349Ile) | ClinVar dbSNP |
| 3 | g.14141742C>A | CA351536627 | TMEM43 | c.*1180C>A (n.*1180C>A) c.1150C>A (p.Leu384Ile) n.327+2445C>A c.236+2445C>A n.15C>A c.1045C>A (p.Leu349Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141742C= | CA1346973905 | TMEM43 | c.*1180C= (n.*1180C=) c.1150C= (p.Leu384=) n.327+2445C= c.236+2445C= n.15C= c.1045C= (p.Leu349=) | |
| 3 | g.14141742C>G | CA024597 | TMEM43 | c.*1180C>G (n.*1180C>G) c.1150C>G (p.Leu384Val) n.327+2445C>G c.236+2445C>G n.15C>G c.1045C>G (p.Leu349Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141742C>T | CA051355 | TMEM43 | c.*1180C>T (n.*1180C>T) c.1150C>T (p.Leu384Phe) n.327+2445C>T c.236+2445C>T n.15C>T c.1045C>T (p.Leu349Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141743T>A | CA351536628 | TMEM43 | c.*1181T>A (n.*1181T>A) c.1151T>A (p.Leu384His) n.327+2446T>A c.236+2446T>A n.16T>A c.1046T>A (p.Leu349His) | |
| 3 | g.14141743T>C | CA351536629 | TMEM43 | c.*1181T>C (n.*1181T>C) c.1151T>C (p.Leu384Pro) n.327+2446T>C c.236+2446T>C n.16T>C c.1046T>C (p.Leu349Pro) | |
| 3 | g.14141743T>G | CA351536630 | TMEM43 | c.*1181T>G (n.*1181T>G) c.1151T>G (p.Leu384Arg) n.327+2446T>G c.236+2446T>G n.16T>G c.1046T>G (p.Leu349Arg) | |
| 3 | g.14141744T>A | CA432553062 | TMEM43 | c.*1182T>A (n.*1182T>A) c.1152T>A (p.Leu384=) n.327+2447T>A c.236+2447T>A n.17T>A c.1047T>A (p.Leu349=) | |
| 3 | g.14141744T>C | CA432553061 | TMEM43 | c.*1182T>C (n.*1182T>C) c.1152T>C (p.Leu384=) n.327+2447T>C c.236+2447T>C n.17T>C c.1047T>C (p.Leu349=) | |
| 3 | g.14141744T>G | CA432553060 | TMEM43 | c.*1182T>G (n.*1182T>G) c.1152T>G (p.Leu384=) n.327+2447T>G c.236+2447T>G n.17T>G c.1047T>G (p.Leu349=) | dbSNP |
| 3 | g.14141745G>A | CA351536631 | TMEM43 | c.*1183G>A (n.*1183G>A) c.1153G>A (p.Val385Met) n.327+2448G>A c.236+2448G>A n.18G>A c.1048G>A (p.Val350Met) | ClinVar |
| 3 | g.14141745G>C | CA351536632 | TMEM43 | c.*1183G>C (n.*1183G>C) c.1153G>C (p.Val385Leu) n.327+2448G>C c.236+2448G>C n.18G>C c.1048G>C (p.Val350Leu) | |
| 3 | g.14141745G>T | CA351536633 | TMEM43 | c.*1183G>T (n.*1183G>T) c.1153G>T (p.Val385Leu) n.327+2448G>T c.236+2448G>T n.18G>T c.1048G>T (p.Val350Leu) | |
| 3 | g.14141746T>A | CA351536634 | TMEM43 | c.*1184T>A (n.*1184T>A) c.1154T>A (p.Val385Glu) n.327+2449T>A c.236+2449T>A n.19T>A c.1049T>A (p.Val350Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141746T>C | CA351536635 | TMEM43 | c.*1184T>C (n.*1184T>C) c.1154T>C (p.Val385Ala) n.327+2449T>C c.236+2449T>C n.19T>C c.1049T>C (p.Val350Ala) | |
| 3 | g.14141746T>G | CA351536636 | TMEM43 | c.*1184T>G (n.*1184T>G) c.1154T>G (p.Val385Gly) n.327+2449T>G c.236+2449T>G n.19T>G c.1049T>G (p.Val350Gly) | |
| 3 | g.14141746T= | CA1346973906 | TMEM43 | c.*1184T= (n.*1184T=) c.1154T= (p.Val385=) n.327+2449T= c.236+2449T= n.19T= c.1049T= (p.Val350=) | |
| 3 | g.14141746_14141747insA | CA2577516638 | TMEM43 | c.*1184_*1185insA (n.*1184_*1185insA) c.1154_1155insA (p.Pro386AlafsTer?) n.327+2449_327+2450insA c.236+2449_236+2450insA n.19_20insA c.1049_1050insA (p.Pro351AlafsTer?) | |
| 3 | g.14141747G>A | CA432553065 | TMEM43 | c.*1185G>A (n.*1185G>A) c.1155G>A (p.Val385=) n.327+2450G>A c.236+2450G>A n.20G>A c.1050G>A (p.Val350=) | |
| 3 | g.14141747G>C | CA432553064 | TMEM43 | c.*1185G>C (n.*1185G>C) c.1155G>C (p.Val385=) n.327+2450G>C c.236+2450G>C n.20G>C c.1050G>C (p.Val350=) | |
| 3 | g.14141747G>T | CA432553063 | TMEM43 | c.*1185G>T (n.*1185G>T) c.1155G>T (p.Val385=) n.327+2450G>T c.236+2450G>T n.20G>T c.1050G>T (p.Val350=) | |
| 3 | g.14141748C>A | CA351536637 | TMEM43 | c.*1186C>A (n.*1186C>A) c.1156C>A (p.Pro386Thr) n.327+2451C>A c.236+2451C>A n.21C>A c.1051C>A (p.Pro351Thr) | |
| 3 | g.14141748C= | CA1346973907 | TMEM43 | c.*1186C= (n.*1186C=) c.1156C= (p.Pro386=) n.327+2451C= c.236+2451C= n.21C= c.1051C= (p.Pro351=) | |
| 3 | g.14141748C>G | CA351536639 | TMEM43 | c.*1186C>G (n.*1186C>G) c.1156C>G (p.Pro386Ala) n.327+2451C>G c.236+2451C>G n.21C>G c.1051C>G (p.Pro351Ala) | gnomAD v4 |
| 3 | g.14141748C>T | CA351536638 | TMEM43 | c.*1186C>T (n.*1186C>T) c.1156C>T (p.Pro386Ser) n.327+2451C>T c.236+2451C>T n.21C>T c.1051C>T (p.Pro351Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141749C>A | CA351536640 | TMEM43 | c.*1187C>A (n.*1187C>A) c.1157C>A (p.Pro386His) n.327+2452C>A c.236+2452C>A n.22C>A c.1052C>A (p.Pro351His) | |
| 3 | g.14141749C= | CA1346973908 | TMEM43 | c.*1187C= (n.*1187C=) c.1157C= (p.Pro386=) n.327+2452C= c.236+2452C= n.22C= c.1052C= (p.Pro351=) | |
| 3 | g.14141749C>G | CA351536641 | TMEM43 | c.*1187C>G (n.*1187C>G) c.1157C>G (p.Pro386Arg) n.327+2452C>G c.236+2452C>G n.22C>G c.1052C>G (p.Pro351Arg) | |
| 3 | g.14141749C>T | CA351536642 | TMEM43 | c.*1187C>T (n.*1187C>T) c.1157C>T (p.Pro386Leu) n.327+2452C>T c.236+2452C>T n.22C>T c.1052C>T (p.Pro351Leu) | dbSNP |
| 3 | g.14141750C>A | CA432553066 | TMEM43 | c.*1188C>A (n.*1188C>A) c.1158C>A (p.Pro386=) n.327+2453C>A c.236+2453C>A n.23C>A c.1053C>A (p.Pro351=) | |
| 3 | g.14141750C= | CA1346973909 | TMEM43 | c.*1188C= (n.*1188C=) c.1158C= (p.Pro386=) n.327+2453C= c.236+2453C= n.23C= c.1053C= (p.Pro351=) | |
| 3 | g.14141750C>G | CA432553069 | TMEM43 | c.*1188C>G (n.*1188C>G) c.1158C>G (p.Pro386=) n.327+2453C>G c.236+2453C>G n.23C>G c.1053C>G (p.Pro351=) | |
| 3 | g.14141750C>T | CA432553068 | TMEM43 | c.*1188C>T (n.*1188C>T) c.1158C>T (p.Pro386=) n.327+2453C>T c.236+2453C>T n.23C>T c.1053C>T (p.Pro351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141751A= | CA1346973910 | TMEM43 | c.*1189A= (n.*1189A=) c.1159A= (p.Ile387=) n.327+2454A= c.236+2454A= n.24A= c.1054A= (p.Ile352=) | |
| 3 | g.14141751A>C | CA351536643 | TMEM43 | c.*1189A>C (n.*1189A>C) c.1159A>C (p.Ile387Leu) n.327+2454A>C c.236+2454A>C n.24A>C c.1054A>C (p.Ile352Leu) | |
| 3 | g.14141751A>G | CA051369 | TMEM43 | c.*1189A>G (n.*1189A>G) c.1159A>G (p.Ile387Val) n.327+2454A>G c.236+2454A>G n.24A>G c.1054A>G (p.Ile352Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141751A>T | CA351536644 | TMEM43 | c.*1189A>T (n.*1189A>T) c.1159A>T (p.Ile387Phe) n.327+2454A>T c.236+2454A>T n.24A>T c.1054A>T (p.Ile352Phe) | |
| 3 | g.14141752T>A | CA351536645 | TMEM43 | c.*1190T>A (n.*1190T>A) c.1160T>A (p.Ile387Asn) n.327+2455T>A c.236+2455T>A n.25T>A c.1055T>A (p.Ile352Asn) | |
| 3 | g.14141752T>C | CA351536646 | TMEM43 | c.*1190T>C (n.*1190T>C) c.1160T>C (p.Ile387Thr) n.327+2455T>C c.236+2455T>C n.25T>C c.1055T>C (p.Ile352Thr) | |
| 3 | g.14141752T>G | CA351536647 | TMEM43 | c.*1190T>G (n.*1190T>G) c.1160T>G (p.Ile387Ser) n.327+2455T>G c.236+2455T>G n.25T>G c.1055T>G (p.Ile352Ser) | |
| 3 | g.14141753C>A | CA432553072 | TMEM43 | c.*1191C>A (n.*1191C>A) c.1161C>A (p.Ile387=) n.327+2456C>A c.236+2456C>A n.26C>A c.1056C>A (p.Ile352=) | |
| 3 | g.14141753C>G | CA351536648 | TMEM43 | c.*1191C>G (n.*1191C>G) c.1161C>G (p.Ile387Met) n.327+2456C>G c.236+2456C>G n.26C>G c.1056C>G (p.Ile352Met) | |
| 3 | g.14141753C>T | CA432553073 | TMEM43 | c.*1191C>T (n.*1191C>T) c.1161C>T (p.Ile387=) n.327+2456C>T c.236+2456C>T n.26C>T c.1056C>T (p.Ile352=) | ClinVar dbSNP |
| 3 | g.14141754C>A | CA351536649 | TMEM43 | c.*1192C>A (n.*1192C>A) c.1162C>A (p.Leu388Ile) n.327+2457C>A c.236+2457C>A n.27C>A c.1057C>A (p.Leu353Ile) | |
| 3 | g.14141754C>G | CA351536650 | TMEM43 | c.*1192C>G (n.*1192C>G) c.1162C>G (p.Leu388Val) n.327+2457C>G c.236+2457C>G n.27C>G c.1057C>G (p.Leu353Val) | |
| 3 | g.14141754C>T | CA351536651 | TMEM43 | c.*1192C>T (n.*1192C>T) c.1162C>T (p.Leu388Phe) n.327+2457C>T c.236+2457C>T n.27C>T c.1057C>T (p.Leu353Phe) | |
| 3 | g.14141755T>A | CA351536654 | TMEM43 | c.*1193T>A (n.*1193T>A) c.1163T>A (p.Leu388His) n.327+2458T>A c.236+2458T>A n.28T>A c.1058T>A (p.Leu353His) | |
| 3 | g.14141755T>C | CA351536652 | TMEM43 | c.*1193T>C (n.*1193T>C) c.1163T>C (p.Leu388Pro) n.327+2458T>C c.236+2458T>C n.28T>C c.1058T>C (p.Leu353Pro) | |
| 3 | g.14141755T>G | CA351536653 | TMEM43 | c.*1193T>G (n.*1193T>G) c.1163T>G (p.Leu388Arg) n.327+2458T>G c.236+2458T>G n.28T>G c.1058T>G (p.Leu353Arg) | |
| 3 | g.14141756T>A | CA432553074 | TMEM43 | c.*1194T>A (n.*1194T>A) c.1164T>A (p.Leu388=) n.327+2459T>A c.236+2459T>A n.29T>A c.1059T>A (p.Leu353=) | |
| 3 | g.14141756T>C | CA69738242 | TMEM43 | c.*1194T>C (n.*1194T>C) c.1164T>C (p.Leu388=) n.327+2459T>C c.236+2459T>C n.29T>C c.1059T>C (p.Leu353=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141756T>G | CA432553076 | TMEM43 | c.*1194T>G (n.*1194T>G) c.1164T>G (p.Leu388=) n.327+2459T>G c.236+2459T>G n.29T>G c.1059T>G (p.Leu353=) | ClinVar dbSNP |
| 3 | g.14141756T= | CA1346942964 | TMEM43 | c.*1194T= (n.*1194T=) c.1164T= (p.Leu388=) n.327+2459T= c.236+2459T= n.29T= c.1059T= (p.Leu353=) | |
| 3 | g.14141757G>A | CA351536655 | TMEM43 | c.*1195G>A (n.*1195G>A) c.1165G>A (p.Val389Ile) n.327+2460G>A c.236+2460G>A n.30G>A c.1060G>A (p.Val354Ile) | ClinVar |
| 3 | g.14141757G>C | CA351536656 | TMEM43 | c.*1195G>C (n.*1195G>C) c.1165G>C (p.Val389Leu) n.327+2460G>C c.236+2460G>C n.30G>C c.1060G>C (p.Val354Leu) | dbSNP |
| 3 | g.14141757G= | CA1346942971 | TMEM43 | c.*1195G= (n.*1195G=) c.1165G= (p.Val389=) n.327+2460G= c.236+2460G= n.30G= c.1060G= (p.Val354=) | |
| 3 | g.14141757G>T | CA351536657 | TMEM43 | c.*1195G>T (n.*1195G>T) c.1165G>T (p.Val389Phe) n.327+2460G>T c.236+2460G>T n.30G>T c.1060G>T (p.Val354Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141758T>A | CA351536658 | TMEM43 | c.*1196T>A (n.*1196T>A) c.1166T>A (p.Val389Asp) n.327+2461T>A c.236+2461T>A n.31T>A c.1061T>A (p.Val354Asp) | |
| 3 | g.14141758T>C | CA351536659 | TMEM43 | c.*1196T>C (n.*1196T>C) c.1166T>C (p.Val389Ala) n.327+2461T>C c.236+2461T>C n.31T>C c.1061T>C (p.Val354Ala) | ClinVar |
| 3 | g.14141758T>G | CA351536660 | TMEM43 | c.*1196T>G (n.*1196T>G) c.1166T>G (p.Val389Gly) n.327+2461T>G c.236+2461T>G n.31T>G c.1061T>G (p.Val354Gly) | |
| 3 | g.14141759T>A | CA432553081 | TMEM43 | c.*1197T>A (n.*1197T>A) c.1167T>A (p.Val389=) n.327+2462T>A c.236+2462T>A n.32T>A c.1062T>A (p.Val354=) | |
| 3 | g.14141759T>C | CA432553082 | TMEM43 | c.*1197T>C (n.*1197T>C) c.1167T>C (p.Val389=) n.327+2462T>C c.236+2462T>C n.32T>C c.1062T>C (p.Val354=) | ClinVar dbSNP |
| 3 | g.14141759T>G | CA432553083 | TMEM43 | c.*1197T>G (n.*1197T>G) c.1167T>G (p.Val389=) n.327+2462T>G c.236+2462T>G n.32T>G c.1062T>G (p.Val354=) | dbSNP gnomAD v4 |
| 3 | g.14141759T= | CA1346942976 | TMEM43 | c.*1197T= (n.*1197T=) c.1167T= (p.Val389=) n.327+2462T= c.236+2462T= n.32T= c.1062T= (p.Val354=) | |
| 3 | g.14141760G>A | CA351536661 | TMEM43 | c.*1198G>A (n.*1198G>A) c.1168G>A (p.Ala390Thr) n.327+2463G>A c.236+2463G>A n.33G>A c.1063G>A (p.Ala355Thr) | |
| 3 | g.14141760G>C | CA351536662 | TMEM43 | c.*1198G>C (n.*1198G>C) c.1168G>C (p.Ala390Pro) n.327+2463G>C c.236+2463G>C n.33G>C c.1063G>C (p.Ala355Pro) | |
| 3 | g.14141760G= | CA1346942980 | TMEM43 | c.*1198G= (n.*1198G=) c.1168G= (p.Ala390=) n.327+2463G= c.236+2463G= n.33G= c.1063G= (p.Ala355=) | |
| 3 | g.14141760G>T | CA351536663 | TMEM43 | c.*1198G>T (n.*1198G>T) c.1168G>T (p.Ala390Ser) n.327+2463G>T c.236+2463G>T n.33G>T c.1063G>T (p.Ala355Ser) | ClinVar dbSNP |
| 3 | g.14141761C>A | CA351536664 | TMEM43 | c.*1199C>A (n.*1199C>A) c.1169C>A (p.Ala390Asp) n.327+2464C>A c.236+2464C>A n.34C>A c.1064C>A (p.Ala355Asp) | |
| 3 | g.14141761C= | CA1346942984 | TMEM43 | c.*1199C= (n.*1199C=) c.1169C= (p.Ala390=) n.327+2464C= c.236+2464C= n.34C= c.1064C= (p.Ala355=) | |
| 3 | g.14141761C>G | CA351536665 | TMEM43 | c.*1199C>G (n.*1199C>G) c.1169C>G (p.Ala390Gly) n.327+2464C>G c.236+2464C>G n.34C>G c.1064C>G (p.Ala355Gly) | |
| 3 | g.14141761C>T | CA351536666 | TMEM43 | c.*1199C>T (n.*1199C>T) c.1169C>T (p.Ala390Val) n.327+2464C>T c.236+2464C>T n.34C>T c.1064C>T (p.Ala355Val) | dbSNP |
| 3 | g.14141762T>A | CA432553087 | TMEM43 | c.*1200T>A (n.*1200T>A) c.1170T>A (p.Ala390=) n.327+2465T>A c.236+2465T>A n.35T>A c.1065T>A (p.Ala355=) | |
| 3 | g.14141762T>C | CA432553089 | TMEM43 | c.*1200T>C (n.*1200T>C) c.1170T>C (p.Ala390=) n.327+2465T>C c.236+2465T>C n.35T>C c.1065T>C (p.Ala355=) | |
| 3 | g.14141762T>G | CA432553091 | TMEM43 | c.*1200T>G (n.*1200T>G) c.1170T>G (p.Ala390=) n.327+2465T>G c.236+2465T>G n.35T>G c.1065T>G (p.Ala355=) | gnomAD v4 |
| 3 | g.14141763C>A | CA432553093 | TMEM43 | c.*1201C>A (n.*1201C>A) c.1171C>A (p.Arg391=) n.327+2466C>A c.236+2466C>A n.36C>A c.1066C>A (p.Arg356=) | |
| 3 | g.14141763C= | CA1346942989 | TMEM43 | c.*1201C= (n.*1201C=) c.1171C= (p.Arg391=) n.327+2466C= c.236+2466C= n.36C= c.1066C= (p.Arg356=) | |
| 3 | g.14141763C>G | CA351536667 | TMEM43 | c.*1201C>G (n.*1201C>G) c.1171C>G (p.Arg391Gly) n.327+2466C>G c.236+2466C>G n.36C>G c.1066C>G (p.Arg356Gly) | |
| 3 | g.14141763C>T | CA351536668 | TMEM43 | c.*1201C>T (n.*1201C>T) c.1171C>T (p.Arg391Trp) n.327+2466C>T c.236+2466C>T n.36C>T c.1066C>T (p.Arg356Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.14141764_14141776del | CA913188072 | TMEM43 | c.*1202_*1214del (n.*1202_*1214del) c.1172_1184del (p.Arg391GlnfsTer20) n.327+2467_327+2479del c.236+2467_236+2479del n.37_49del c.1067_1079del (p.Arg356GlnfsTer20) | ClinVar dbSNP |
| 3 | g.14141764G>A | CA051380 | TMEM43 | c.*1202G>A (n.*1202G>A) c.1172G>A (p.Arg391Gln) n.327+2467G>A c.236+2467G>A n.37G>A c.1067G>A (p.Arg356Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.14141764G>C | CA351536670 | TMEM43 | c.*1202G>C (n.*1202G>C) c.1172G>C (p.Arg391Pro) n.327+2467G>C c.236+2467G>C n.37G>C c.1067G>C (p.Arg356Pro) | |
| 3 | g.14141764G= | CA1346943005 | TMEM43 | c.*1202G= (n.*1202G=) c.1172G= (p.Arg391=) n.327+2467G= c.236+2467G= n.37G= c.1067G= (p.Arg356=) | |
| 3 | g.14141764G>T | CA351536669 | TMEM43 | c.*1202G>T (n.*1202G>T) c.1172G>T (p.Arg391Leu) n.327+2467G>T c.236+2467G>T n.37G>T c.1067G>T (p.Arg356Leu) | |
| 3 | g.14141765G>A | CA432553096 | TMEM43 | c.*1203G>A (n.*1203G>A) c.1173G>A (p.Arg391=) n.327+2468G>A c.236+2468G>A n.38G>A c.1068G>A (p.Arg356=) | |
| 3 | g.14141765G>C | CA432553097 | TMEM43 | c.*1203G>C (n.*1203G>C) c.1173G>C (p.Arg391=) n.327+2468G>C c.236+2468G>C n.38G>C c.1068G>C (p.Arg356=) | |
| 3 | g.14141765G>T | CA432553095 | TMEM43 | c.*1203G>T (n.*1203G>T) c.1173G>T (p.Arg391=) n.327+2468G>T c.236+2468G>T n.38G>T c.1068G>T (p.Arg356=) | |
| 3 | g.14141766A>C | CA351536671 | TMEM43 | c.*1204A>C (n.*1204A>C) c.1174A>C (p.Thr392Pro) n.327+2469A>C c.236+2469A>C n.39A>C c.1069A>C (p.Thr357Pro) | |
| 3 | g.14141766A>G | CA351536673 | TMEM43 | c.*1204A>G (n.*1204A>G) c.1174A>G (p.Thr392Ala) n.327+2469A>G c.236+2469A>G n.39A>G c.1069A>G (p.Thr357Ala) | |
| 3 | g.14141766A>T | CA351536672 | TMEM43 | c.*1204A>T (n.*1204A>T) c.1174A>T (p.Thr392Ser) n.327+2469A>T c.236+2469A>T n.39A>T c.1069A>T (p.Thr357Ser) | |
| 3 | g.14141767C>A | CA351536674 | TMEM43 | c.*1205C>A (n.*1205C>A) c.1175C>A (p.Thr392Lys) n.327+2470C>A c.236+2470C>A n.40C>A c.1070C>A (p.Thr357Lys) | gnomAD v4 |
| 3 | g.14141767C>G | CA351536676 | TMEM43 | c.*1205C>G (n.*1205C>G) c.1175C>G (p.Thr392Arg) n.327+2470C>G c.236+2470C>G n.40C>G c.1070C>G (p.Thr357Arg) | |
| 3 | g.14141767C>T | CA351536675 | TMEM43 | c.*1205C>T (n.*1205C>T) c.1175C>T (p.Thr392Ile) n.327+2470C>T c.236+2470C>T n.40C>T c.1070C>T (p.Thr357Ile) | |
| 3 | g.14141768A>C | CA432553104 | TMEM43 | c.*1206A>C (n.*1206A>C) c.1176A>C (p.Thr392=) n.327+2471A>C c.236+2471A>C n.41A>C c.1071A>C (p.Thr357=) | |
| 3 | g.14141768A>G | CA432553102 | TMEM43 | c.*1206A>G (n.*1206A>G) c.1176A>G (p.Thr392=) n.327+2471A>G c.236+2471A>G n.41A>G c.1071A>G (p.Thr357=) | |
| 3 | g.14141768A>T | CA432553100 | TMEM43 | c.*1206A>T (n.*1206A>T) c.1176A>T (p.Thr392=) n.327+2471A>T c.236+2471A>T n.41A>T c.1071A>T (p.Thr357=) | |
| 3 | g.14141769C>A | CA432553105 | TMEM43 | c.*1207C>A (n.*1207C>A) c.1177C>A (p.Arg393=) n.327+2472C>A c.236+2472C>A n.42C>A c.1072C>A (p.Arg358=) | |
| 3 | g.14141769C= | CA1346943008 | TMEM43 | c.*1207C= (n.*1207C=) c.1177C= (p.Arg393=) n.327+2472C= c.236+2472C= n.42C= c.1072C= (p.Arg358=) | |
| 3 | g.14141769C>G | CA351536677 | TMEM43 | c.*1207C>G (n.*1207C>G) c.1177C>G (p.Arg393Gly) n.327+2472C>G c.236+2472C>G n.42C>G c.1072C>G (p.Arg358Gly) | gnomAD v4 |
| 3 | g.14141769C>T | CA051388 | TMEM43 | c.*1207C>T (n.*1207C>T) c.1177C>T (p.Arg393Trp) n.327+2472C>T c.236+2472C>T n.42C>T c.1072C>T (p.Arg358Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141770G>A | CA051397 | TMEM43 | c.*1208G>A (n.*1208G>A) c.1178G>A (p.Arg393Gln) n.327+2473G>A c.236+2473G>A n.43G>A c.1073G>A (p.Arg358Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141770G>C | CA351536678 | TMEM43 | c.*1208G>C (n.*1208G>C) c.1178G>C (p.Arg393Pro) n.327+2473G>C c.236+2473G>C n.43G>C c.1073G>C (p.Arg358Pro) | |
| 3 | g.14141770G= | CA1346943013 | TMEM43 | c.*1208G= (n.*1208G=) c.1178G= (p.Arg393=) n.327+2473G= c.236+2473G= n.43G= c.1073G= (p.Arg358=) | |
| 3 | g.14141770G>T | CA351536679 | TMEM43 | c.*1208G>T (n.*1208G>T) c.1178G>T (p.Arg393Leu) n.327+2473G>T c.236+2473G>T n.43G>T c.1073G>T (p.Arg358Leu) | |
| 3 | g.14141771G>A | CA432553108 | TMEM43 | c.*1209G>A (n.*1209G>A) c.1179G>A (p.Arg393=) n.327+2474G>A c.236+2474G>A n.44G>A c.1074G>A (p.Arg358=) | gnomAD v4 |
| 3 | g.14141771G>C | CA432553107 | TMEM43 | c.*1209G>C (n.*1209G>C) c.1179G>C (p.Arg393=) n.327+2474G>C c.236+2474G>C n.44G>C c.1074G>C (p.Arg358=) | |
| 3 | g.14141771G= | CA1346943015 | TMEM43 | c.*1209G= (n.*1209G=) c.1179G= (p.Arg393=) n.327+2474G= c.236+2474G= n.44G= c.1074G= (p.Arg358=) | |
| 3 | g.14141771G>T | CA69738254 | TMEM43 | c.*1209G>T (n.*1209G>T) c.1179G>T (p.Arg393=) n.327+2474G>T c.236+2474G>T n.44G>T c.1074G>T (p.Arg358=) | dbSNP |
| 3 | g.14141772G>A | CA051405 | TMEM43 | c.*1210G>A (n.*1210G>A) c.1180G>A (p.Val394Met) n.327+2475G>A c.236+2475G>A n.45G>A c.1075G>A (p.Val359Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141772G>C | CA351536680 | TMEM43 | c.*1210G>C (n.*1210G>C) c.1180G>C (p.Val394Leu) n.327+2475G>C c.236+2475G>C n.45G>C c.1075G>C (p.Val359Leu) | |
| 3 | g.14141772G= | CA1346943019 | TMEM43 | c.*1210G= (n.*1210G=) c.1180G= (p.Val394=) n.327+2475G= c.236+2475G= n.45G= c.1075G= (p.Val359=) | |
| 3 | g.14141772G>T | CA351536681 | TMEM43 | c.*1210G>T (n.*1210G>T) c.1180G>T (p.Val394Leu) n.327+2475G>T c.236+2475G>T n.45G>T c.1075G>T (p.Val359Leu) |