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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.14141642C>A | CA432552905 | TMEM43 | c.*1080C>A (n.*1080C>A) c.1050C>A (p.Ala350=) n.327+2345C>A c.236+2345C>A c.945C>A (p.Ala315=) | |
| 3 | g.14141642C= | CA1346973833 | TMEM43 | c.*1080C= (n.*1080C=) c.1050C= (p.Ala350=) n.327+2345C= c.236+2345C= c.945C= (p.Ala315=) | |
| 3 | g.14141642C>G | CA432552908 | TMEM43 | c.*1080C>G (n.*1080C>G) c.1050C>G (p.Ala350=) n.327+2345C>G c.236+2345C>G c.945C>G (p.Ala315=) | ClinVar |
| 3 | g.14141642C>T | CA432552909 | TMEM43 | c.*1080C>T (n.*1080C>T) c.1050C>T (p.Ala350=) n.327+2345C>T c.236+2345C>T c.945C>T (p.Ala315=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141643T>A | CA351536442 | TMEM43 | c.*1081T>A (n.*1081T>A) c.1051T>A (p.Phe351Ile) n.327+2346T>A c.236+2346T>A c.946T>A (p.Phe316Ile) | |
| 3 | g.14141643T>C | CA351536443 | TMEM43 | c.*1081T>C (n.*1081T>C) c.1051T>C (p.Phe351Leu) n.327+2346T>C c.236+2346T>C c.946T>C (p.Phe316Leu) | |
| 3 | g.14141643T>G | CA351536444 | TMEM43 | c.*1081T>G (n.*1081T>G) c.1051T>G (p.Phe351Val) n.327+2346T>G c.236+2346T>G c.946T>G (p.Phe316Val) | |
| 3 | g.14141644T>A | CA351536446 | TMEM43 | c.*1082T>A (n.*1082T>A) c.1052T>A (p.Phe351Tyr) n.327+2347T>A c.236+2347T>A c.947T>A (p.Phe316Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141644T>C | CA351536447 | TMEM43 | c.*1082T>C (n.*1082T>C) c.1052T>C (p.Phe351Ser) n.327+2347T>C c.236+2347T>C c.947T>C (p.Phe316Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.14141644T>G | CA351536445 | TMEM43 | c.*1082T>G (n.*1082T>G) c.1052T>G (p.Phe351Cys) n.327+2347T>G c.236+2347T>G c.947T>G (p.Phe316Cys) | |
| 3 | g.14141644T= | CA1346973834 | TMEM43 | c.*1082T= (n.*1082T=) c.1052T= (p.Phe351=) n.327+2347T= c.236+2347T= c.947T= (p.Phe316=) | |
| 3 | g.14141645T>A | CA351536449 | TMEM43 | c.*1083T>A (n.*1083T>A) c.1053T>A (p.Phe351Leu) n.327+2348T>A c.236+2348T>A c.948T>A (p.Phe316Leu) | |
| 3 | g.14141645T>C | CA432552919 | TMEM43 | c.*1083T>C (n.*1083T>C) c.1053T>C (p.Phe351=) n.327+2348T>C c.236+2348T>C c.948T>C (p.Phe316=) | |
| 3 | g.14141645T>G | CA351536448 | TMEM43 | c.*1083T>G (n.*1083T>G) c.1053T>G (p.Phe351Leu) n.327+2348T>G c.236+2348T>G c.948T>G (p.Phe316Leu) | |
| 3 | g.14141646G>A | CA351536451 | TMEM43 | c.*1084G>A (n.*1084G>A) c.1054G>A (p.Ala352Thr) n.327+2349G>A c.236+2349G>A c.949G>A (p.Ala317Thr) | |
| 3 | g.14141646G>C | CA351536450 | TMEM43 | c.*1084G>C (n.*1084G>C) c.1054G>C (p.Ala352Pro) n.327+2349G>C c.236+2349G>C c.949G>C (p.Ala317Pro) | |
| 3 | g.14141646G>T | CA351536452 | TMEM43 | c.*1084G>T (n.*1084G>T) c.1054G>T (p.Ala352Ser) n.327+2349G>T c.236+2349G>T c.949G>T (p.Ala317Ser) | |
| 3 | g.14141647C>A | CA351536453 | TMEM43 | c.*1085C>A (n.*1085C>A) c.1055C>A (p.Ala352Asp) n.327+2350C>A c.236+2350C>A c.950C>A (p.Ala317Asp) | |
| 3 | g.14141647C>G | CA351536454 | TMEM43 | c.*1085C>G (n.*1085C>G) c.1055C>G (p.Ala352Gly) n.327+2350C>G c.236+2350C>G c.950C>G (p.Ala317Gly) | |
| 3 | g.14141647C>T | CA351536455 | TMEM43 | c.*1085C>T (n.*1085C>T) c.1055C>T (p.Ala352Val) n.327+2350C>T c.236+2350C>T c.950C>T (p.Ala317Val) | |
| 3 | g.14141648C>A | CA432552923 | TMEM43 | c.*1086C>A (n.*1086C>A) c.1056C>A (p.Ala352=) n.327+2351C>A c.236+2351C>A c.951C>A (p.Ala317=) | |
| 3 | g.14141648C= | CA1346973835 | TMEM43 | c.*1086C= (n.*1086C=) c.1056C= (p.Ala352=) n.327+2351C= c.236+2351C= c.951C= (p.Ala317=) | |
| 3 | g.14141648C>G | CA432552924 | TMEM43 | c.*1086C>G (n.*1086C>G) c.1056C>G (p.Ala352=) n.327+2351C>G c.236+2351C>G c.951C>G (p.Ala317=) | |
| 3 | g.14141648C>T | CA051069 | TMEM43 | c.*1086C>T (n.*1086C>T) c.1056C>T (p.Ala352=) n.327+2351C>T c.236+2351C>T c.951C>T (p.Ala317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.14141649T>A | CA351536456 | TMEM43 | c.*1087T>A (n.*1087T>A) c.1057T>A (p.Phe353Ile) n.327+2352T>A c.236+2352T>A c.952T>A (p.Phe318Ile) | |
| 3 | g.14141649T>C | CA351536457 | TMEM43 | c.*1087T>C (n.*1087T>C) c.1057T>C (p.Phe353Leu) n.327+2352T>C c.236+2352T>C c.952T>C (p.Phe318Leu) | |
| 3 | g.14141649T>G | CA351536458 | TMEM43 | c.*1087T>G (n.*1087T>G) c.1057T>G (p.Phe353Val) n.327+2352T>G c.236+2352T>G c.952T>G (p.Phe318Val) | |
| 3 | g.14141649_14141652del | CA2664571094 | TMEM43 | c.*1087_*1090del (n.*1087_*1090del) c.1057_1060del (p.Phe353ValfsTer6) n.327+2352_327+2355del c.236+2352_236+2355del c.952_955del (p.Phe318ValfsTer6) | gnomAD v4 |
| 3 | g.14141650T>A | CA351536459 | TMEM43 | c.*1088T>A (n.*1088T>A) c.1058T>A (p.Phe353Tyr) n.327+2353T>A c.236+2353T>A c.953T>A (p.Phe318Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141650T>C | CA69738133 | TMEM43 | c.*1088T>C (n.*1088T>C) c.1058T>C (p.Phe353Ser) n.327+2353T>C c.236+2353T>C c.953T>C (p.Phe318Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141650T>G | CA351536460 | TMEM43 | c.*1088T>G (n.*1088T>G) c.1058T>G (p.Phe353Cys) n.327+2353T>G c.236+2353T>G c.953T>G (p.Phe318Cys) | |
| 3 | g.14141650T= | CA1346973836 | TMEM43 | c.*1088T= (n.*1088T=) c.1058T= (p.Phe353=) n.327+2353T= c.236+2353T= c.953T= (p.Phe318=) | |
| 3 | g.14141651C>A | CA351536461 | TMEM43 | c.*1089C>A (n.*1089C>A) c.1059C>A (p.Phe353Leu) n.327+2354C>A c.236+2354C>A c.954C>A (p.Phe318Leu) | dbSNP |
| 3 | g.14141651C= | CA1346973837 | TMEM43 | c.*1089C= (n.*1089C=) c.1059C= (p.Phe353=) n.327+2354C= c.236+2354C= c.954C= (p.Phe318=) | |
| 3 | g.14141651C>G | CA024565 | TMEM43 | c.*1089C>G (n.*1089C>G) c.1059C>G (p.Phe353Leu) n.327+2354C>G c.236+2354C>G c.954C>G (p.Phe318Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141651C>T | CA432552931 | TMEM43 | c.*1089C>T (n.*1089C>T) c.1059C>T (p.Phe353=) n.327+2354C>T c.236+2354C>T c.954C>T (p.Phe318=) | |
| 3 | g.14141652T>A | CA351536464 | TMEM43 | c.*1090T>A (n.*1090T>A) c.1060T>A (p.Cys354Ser) n.327+2355T>A c.236+2355T>A c.955T>A (p.Cys319Ser) | |
| 3 | g.14141652T>C | CA351536462 | TMEM43 | c.*1090T>C (n.*1090T>C) c.1060T>C (p.Cys354Arg) n.327+2355T>C c.236+2355T>C c.955T>C (p.Cys319Arg) | |
| 3 | g.14141652T>G | CA351536463 | TMEM43 | c.*1090T>G (n.*1090T>G) c.1060T>G (p.Cys354Gly) n.327+2355T>G c.236+2355T>G c.955T>G (p.Cys319Gly) | |
| 3 | g.14141653G>A | CA10615418 | TMEM43 | c.*1091G>A (n.*1091G>A) c.1061G>A (p.Cys354Tyr) n.327+2356G>A c.236+2356G>A c.956G>A (p.Cys319Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141653G>C | CA051095 | TMEM43 | c.*1091G>C (n.*1091G>C) c.1061G>C (p.Cys354Ser) n.327+2356G>C c.236+2356G>C c.956G>C (p.Cys319Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141653G= | CA1346973838 | TMEM43 | c.*1091G= (n.*1091G=) c.1061G= (p.Cys354=) n.327+2356G= c.236+2356G= c.956G= (p.Cys319=) | |
| 3 | g.14141653G>T | CA051109 | TMEM43 | c.*1091G>T (n.*1091G>T) c.1061G>T (p.Cys354Phe) n.327+2356G>T c.236+2356G>T c.956G>T (p.Cys319Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141654T>A | CA351536465 | TMEM43 | c.*1092T>A (n.*1092T>A) c.1062T>A (p.Cys354Ter) n.327+2357T>A c.236+2357T>A c.957T>A (p.Cys319Ter) | |
| 3 | g.14141654T>C | CA432552937 | TMEM43 | c.*1092T>C (n.*1092T>C) c.1062T>C (p.Cys354=) n.327+2357T>C c.236+2357T>C c.957T>C (p.Cys319=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.14141654T>G | CA351536466 | TMEM43 | c.*1092T>G (n.*1092T>G) c.1062T>G (p.Cys354Trp) n.327+2357T>G c.236+2357T>G c.957T>G (p.Cys319Trp) | |
| 3 | g.14141654T= | CA1346973839 | TMEM43 | c.*1092T= (n.*1092T=) c.1062T= (p.Cys354=) n.327+2357T= c.236+2357T= c.957T= (p.Cys319=) | |
| 3 | g.14141655G>A | CA351536467 | TMEM43 | c.*1093G>A (n.*1093G>A) c.1063G>A (p.Val355Met) n.327+2358G>A c.236+2358G>A c.958G>A (p.Val320Met) | |
| 3 | g.14141655G>C | CA351536468 | TMEM43 | c.*1093G>C (n.*1093G>C) c.1063G>C (p.Val355Leu) n.327+2358G>C c.236+2358G>C c.958G>C (p.Val320Leu) | |
| 3 | g.14141655G>T | CA351536469 | TMEM43 | c.*1093G>T (n.*1093G>T) c.1063G>T (p.Val355Leu) n.327+2358G>T c.236+2358G>T c.958G>T (p.Val320Leu) |