| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424504G>A | CA221182 | BCKDHA | c.1234G>A (p.Val412Met) c.1243G>A (p.Val415Met) c.1336G>A (p.Val446Met) c.64G>A c.922+1807G>A (n.922+1807G>A) c.1231G>A (p.Val411Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424504G>C | CA406015387 | BCKDHA | c.1234G>C (p.Val412Leu) c.1243G>C (p.Val415Leu) c.1336G>C (p.Val446Leu) c.64G>C c.922+1807G>C (n.922+1807G>C) c.1231G>C (p.Val411Leu) | |
| 19 | g.41424504G= | CA2336460049 | BCKDHA | c.1234G= (p.Val412=) c.1243G= (p.Val415=) c.1336G= (p.Val446=) c.64G= c.922+1807G= (n.922+1807G=) c.1231G= (p.Val411=) | |
| 19 | g.41424504G>T | CA406015388 | BCKDHA | c.1234G>T (p.Val412Leu) c.1243G>T (p.Val415Leu) c.1336G>T (p.Val446Leu) c.64G>T c.922+1807G>T (n.922+1807G>T) c.1231G>T (p.Val411Leu) | |
| 19 | g.41424505T>A | CA406015389 | BCKDHA | c.1235T>A (p.Val412Glu) c.1244T>A (p.Val415Glu) c.1337T>A (p.Val446Glu) c.65T>A c.922+1808T>A (n.922+1808T>A) c.1232T>A (p.Val411Glu) | |
| 19 | g.41424505T>C | CA406015390 | BCKDHA | c.1235T>C (p.Val412Ala) c.1244T>C (p.Val415Ala) c.1337T>C (p.Val446Ala) c.65T>C c.922+1808T>C (n.922+1808T>C) c.1232T>C (p.Val411Ala) | COSMIC |
| 19 | g.41424505T>G | CA406015391 | BCKDHA | c.1235T>G (p.Val412Gly) c.1244T>G (p.Val415Gly) c.1337T>G (p.Val446Gly) c.65T>G c.922+1808T>G (n.922+1808T>G) c.1232T>G (p.Val411Gly) | |
| 19 | g.41424506G>A | CA507560683 | BCKDHA | c.1236G>A (p.Val412=) c.1245G>A (p.Val415=) c.1338G>A (p.Val446=) c.66G>A c.922+1809G>A (n.922+1809G>A) c.1233G>A (p.Val411=) | |
| 19 | g.41424506G>C | CA507560684 | BCKDHA | c.1236G>C (p.Val412=) c.1245G>C (p.Val415=) c.1338G>C (p.Val446=) c.66G>C c.922+1809G>C (n.922+1809G>C) c.1233G>C (p.Val411=) | ClinVar dbSNP |
| 19 | g.41424506G>T | CA507560685 | BCKDHA | c.1236G>T (p.Val412=) c.1245G>T (p.Val415=) c.1338G>T (p.Val446=) c.66G>T c.922+1809G>T (n.922+1809G>T) c.1233G>T (p.Val411=) | |
| 19 | g.41424507T>A | CA406015393 | BCKDHA | c.1237T>A (p.Tyr413Asn) c.1246T>A (p.Tyr416Asn) c.1339T>A (p.Tyr447Asn) c.67T>A c.922+1810T>A (n.922+1810T>A) c.1234T>A (p.Tyr412Asn) | |
| 19 | g.41424507T>C | CA406015394 | BCKDHA | c.1237T>C (p.Tyr413His) c.1246T>C (p.Tyr416His) c.1339T>C (p.Tyr447His) c.67T>C c.922+1810T>C (n.922+1810T>C) c.1234T>C (p.Tyr412His) | |
| 19 | g.41424507T>G | CA406015392 | BCKDHA | c.1237T>G (p.Tyr413Asp) c.1246T>G (p.Tyr416Asp) c.1339T>G (p.Tyr447Asp) c.67T>G c.922+1810T>G (n.922+1810T>G) c.1234T>G (p.Tyr412Asp) | |
| 19 | g.41424507dup | CA2585308447 | BCKDHA | c.1237dup (p.Tyr413LeufsTer?) c.1246dup (p.Tyr416LeufsTer?) c.1339dup (p.Tyr447LeufsTer?) c.67dup c.922+1810dup (n.922+1810dup) c.1234dup (p.Tyr412LeufsTer?) | ClinVar gnomAD v4 |
| 19 | g.41424508A>C | CA406015396 | BCKDHA | c.1238A>C (p.Tyr413Ser) c.1247A>C (p.Tyr416Ser) c.1340A>C (p.Tyr447Ser) c.68A>C c.922+1811A>C (n.922+1811A>C) c.1235A>C (p.Tyr412Ser) | |
| 19 | g.41424508A>G | CA406015395 | BCKDHA | c.1238A>G (p.Tyr413Cys) c.1247A>G (p.Tyr416Cys) c.1340A>G (p.Tyr447Cys) c.68A>G c.922+1811A>G (n.922+1811A>G) c.1235A>G (p.Tyr412Cys) | ClinVar gnomAD v4 |
| 19 | g.41424508A>T | CA406015397 | BCKDHA | c.1238A>T (p.Tyr413Phe) c.1247A>T (p.Tyr416Phe) c.1340A>T (p.Tyr447Phe) c.68A>T c.922+1811A>T (n.922+1811A>T) c.1235A>T (p.Tyr412Phe) | gnomAD v4 |
| 19 | g.41424509T>A | CA406015398 | BCKDHA | c.1239T>A (p.Tyr413Ter) c.1248T>A (p.Tyr416Ter) c.1341T>A (p.Tyr447Ter) c.69T>A c.922+1812T>A (n.922+1812T>A) c.1236T>A (p.Tyr412Ter) | |
| 19 | g.41424509T>C | CA507560686 | BCKDHA | c.1239T>C (p.Tyr413=) c.1248T>C (p.Tyr416=) c.1341T>C (p.Tyr447=) c.69T>C c.922+1812T>C (n.922+1812T>C) c.1236T>C (p.Tyr412=) | |
| 19 | g.41424509T>G | CA406015399 | BCKDHA | c.1239T>G (p.Tyr413Ter) c.1248T>G (p.Tyr416Ter) c.1341T>G (p.Tyr447Ter) c.69T>G c.922+1812T>G (n.922+1812T>G) c.1236T>G (p.Tyr412Ter) | COSMIC |
| 19 | g.41424510C>A | CA406015400 | BCKDHA | c.1240C>A (p.Gln414Lys) c.1249C>A (p.Gln417Lys) c.1342C>A (p.Gln448Lys) c.70C>A c.922+1813C>A (n.922+1813C>A) c.1237C>A (p.Gln413Lys) | |
| 19 | g.41424510C>G | CA406015401 | BCKDHA | c.1240C>G (p.Gln414Glu) c.1249C>G (p.Gln417Glu) c.1342C>G (p.Gln448Glu) c.70C>G c.922+1813C>G (n.922+1813C>G) c.1237C>G (p.Gln413Glu) | |
| 19 | g.41424510C>T | CA406015402 | BCKDHA | c.1240C>T (p.Gln414Ter) c.1249C>T (p.Gln417Ter) c.1342C>T (p.Gln448Ter) c.70C>T c.922+1813C>T (n.922+1813C>T) c.1237C>T (p.Gln413Ter) | |
| 19 | g.41424511A= | CA2336460050 | BCKDHA | c.1241A= (p.Gln414=) c.1250A= (p.Gln417=) c.1343A= (p.Gln448=) c.71A= c.922+1814A= (n.922+1814A=) c.1238A= (p.Gln413=) | |
| 19 | g.41424511A>C | CA9461411 | BCKDHA | c.1241A>C (p.Gln414Pro) c.1250A>C (p.Gln417Pro) c.1343A>C (p.Gln448Pro) c.71A>C c.922+1814A>C (n.922+1814A>C) c.1238A>C (p.Gln413Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41424511A>G | CA406015403 | BCKDHA | c.1241A>G (p.Gln414Arg) c.1250A>G (p.Gln417Arg) c.1343A>G (p.Gln448Arg) c.71A>G c.922+1814A>G (n.922+1814A>G) c.1238A>G (p.Gln413Arg) | gnomAD v4 |
| 19 | g.41424511A>T | CA406015404 | BCKDHA | c.1241A>T (p.Gln414Leu) c.1250A>T (p.Gln417Leu) c.1343A>T (p.Gln448Leu) c.71A>T c.922+1814A>T (n.922+1814A>T) c.1238A>T (p.Gln413Leu) | |
| 19 | g.41424512G>A | CA507560688 | BCKDHA | c.1242G>A (p.Gln414=) c.1251G>A (p.Gln417=) c.1344G>A (p.Gln448=) c.72G>A c.922+1815G>A (n.922+1815G>A) c.1239G>A (p.Gln413=) | |
| 19 | g.41424512G>C | CA406015405 | BCKDHA | c.1242G>C (p.Gln414His) c.1251G>C (p.Gln417His) c.1344G>C (p.Gln448His) c.72G>C c.922+1815G>C (n.922+1815G>C) c.1239G>C (p.Gln413His) | |
| 19 | g.41424512G>T | CA406015406 | BCKDHA | c.1242G>T (p.Gln414His) c.1251G>T (p.Gln417His) c.1344G>T (p.Gln448His) c.72G>T c.922+1815G>T (n.922+1815G>T) c.1239G>T (p.Gln413His) | |
| 19 | g.41424513G>A | CA9461412 | BCKDHA | c.1243G>A (p.Glu415Lys) c.1252G>A (p.Glu418Lys) c.1345G>A (p.Glu449Lys) c.73G>A c.922+1816G>A (n.922+1816G>A) c.1240G>A (p.Glu414Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41424513G>C | CA406015407 | BCKDHA | c.1243G>C (p.Glu415Gln) c.1252G>C (p.Glu418Gln) c.1345G>C (p.Glu449Gln) c.73G>C c.922+1816G>C (n.922+1816G>C) c.1240G>C (p.Glu414Gln) | |
| 19 | g.41424513G= | CA2336460051 | BCKDHA | c.1243G= (p.Glu415=) c.1252G= (p.Glu418=) c.1345G= (p.Glu449=) c.73G= c.922+1816G= (n.922+1816G=) c.1240G= (p.Glu414=) | |
| 19 | g.41424513G>T | CA406015408 | BCKDHA | c.1243G>T (p.Glu415Ter) c.1252G>T (p.Glu418Ter) c.1345G>T (p.Glu449Ter) c.73G>T c.922+1816G>T (n.922+1816G>T) c.1240G>T (p.Glu414Ter) | |
| 19 | g.41424514A>C | CA406015409 | BCKDHA | c.1244A>C (p.Glu415Ala) c.1253A>C (p.Glu418Ala) c.1346A>C (p.Glu449Ala) c.74A>C c.922+1817A>C (n.922+1817A>C) c.1241A>C (p.Glu414Ala) | |
| 19 | g.41424514A>G | CA406015410 | BCKDHA | c.1244A>G (p.Glu415Gly) c.1253A>G (p.Glu418Gly) c.1346A>G (p.Glu449Gly) c.74A>G c.922+1817A>G (n.922+1817A>G) c.1241A>G (p.Glu414Gly) | |
| 19 | g.41424514A>T | CA406015411 | BCKDHA | c.1244A>T (p.Glu415Val) c.1253A>T (p.Glu418Val) c.1346A>T (p.Glu449Val) c.74A>T c.922+1817A>T (n.922+1817A>T) c.1241A>T (p.Glu414Val) | dbSNP |
| 19 | g.41424515G>A | CA507560689 | BCKDHA | c.1245G>A (p.Glu415=) c.1254G>A (p.Glu418=) c.1347G>A (p.Glu449=) c.75G>A c.922+1818G>A (n.922+1818G>A) c.1242G>A (p.Glu414=) | |
| 19 | g.41424515G>C | CA406015412 | BCKDHA | c.1245G>C (p.Glu415Asp) c.1254G>C (p.Glu418Asp) c.1347G>C (p.Glu449Asp) c.75G>C c.922+1818G>C (n.922+1818G>C) c.1242G>C (p.Glu414Asp) | |
| 19 | g.41424515G>T | CA406015413 | BCKDHA | c.1245G>T (p.Glu415Asp) c.1254G>T (p.Glu418Asp) c.1347G>T (p.Glu449Asp) c.75G>T c.922+1818G>T (n.922+1818G>T) c.1242G>T (p.Glu414Asp) | |
| 19 | g.41424516A= | CA2336460052 | BCKDHA | c.1246A= (p.Met416=) c.1255A= (p.Met419=) c.1348A= (p.Met450=) c.76A= c.922+1819A= (n.922+1819A=) c.1243A= (p.Met415=) | |
| 19 | g.41424516A>C | CA406015414 | BCKDHA | c.1246A>C (p.Met416Leu) c.1255A>C (p.Met419Leu) c.1348A>C (p.Met450Leu) c.76A>C c.922+1819A>C (n.922+1819A>C) c.1243A>C (p.Met415Leu) | |
| 19 | g.41424516A>G | CA9461413 | BCKDHA | c.1246A>G (p.Met416Val) c.1255A>G (p.Met419Val) c.1348A>G (p.Met450Val) c.76A>G c.922+1819A>G (n.922+1819A>G) c.1243A>G (p.Met415Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41424516A>T | CA406015415 | BCKDHA | c.1246A>T (p.Met416Leu) c.1255A>T (p.Met419Leu) c.1348A>T (p.Met450Leu) c.76A>T c.922+1819A>T (n.922+1819A>T) c.1243A>T (p.Met415Leu) | |
| 19 | g.41424517T>A | CA406015416 | BCKDHA | c.1247T>A (p.Met416Lys) c.1256T>A (p.Met419Lys) c.1349T>A (p.Met450Lys) c.77T>A c.922+1820T>A (n.922+1820T>A) c.1244T>A (p.Met415Lys) | |
| 19 | g.41424517T>C | CA406015417 | BCKDHA | c.1247T>C (p.Met416Thr) c.1256T>C (p.Met419Thr) c.1349T>C (p.Met450Thr) c.77T>C c.922+1820T>C (n.922+1820T>C) c.1244T>C (p.Met415Thr) | |
| 19 | g.41424517T>G | CA406015418 | BCKDHA | c.1247T>G (p.Met416Arg) c.1256T>G (p.Met419Arg) c.1349T>G (p.Met450Arg) c.77T>G c.922+1820T>G (n.922+1820T>G) c.1244T>G (p.Met415Arg) | |
| 19 | g.41424517_41424521delinsTGCCC | CA2336460053 | BCKDHA | c.1247_1251delinsTGCCC (p.Met416=) c.1256_1260delinsTGCCC (p.Met419=) c.1349_1353delinsTGCCC (p.Met450=) c.77_81delinsTGCCC c.922+1820_922+1824delinsTGCCC (n.922+1820_922+1824delinsTGCCC) c.1244_1248delinsTGCCC (p.Met415=) | |
| 19 | g.41424518G>A | CA406015419 | BCKDHA | c.1248G>A (p.Met416Ile) c.1257G>A (p.Met419Ile) c.1350G>A (p.Met450Ile) c.78G>A c.922+1821G>A (n.922+1821G>A) c.1245G>A (p.Met415Ile) | |
| 19 | g.41424518G>C | CA406015420 | BCKDHA | c.1248G>C (p.Met416Ile) c.1257G>C (p.Met419Ile) c.1350G>C (p.Met450Ile) c.78G>C c.922+1821G>C (n.922+1821G>C) c.1245G>C (p.Met415Ile) |