Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41424509T>ACA406015398BCKDHAc.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)
19g.41424509T>CCA507560686BCKDHAc.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=)
19g.41424509T>GCA406015399BCKDHAc.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
19g.41424510C>ACA406015400BCKDHAc.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)
19g.41424510C>GCA406015401BCKDHAc.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)
19g.41424510C>TCA406015402BCKDHAc.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)
19g.41424511A=CA2336460050BCKDHAc.1241A= (p.Gln414=)
c.1250A= (p.Gln417=)
c.1343A= (p.Gln448=)
c.71A=
c.922+1814A= (n.922+1814A=)
c.1238A= (p.Gln413=)
19g.41424511A>CCA9461411BCKDHAc.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
19g.41424511A>GCA406015403BCKDHAc.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
19g.41424511A>TCA406015404BCKDHAc.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)
19g.41424512G>ACA507560688BCKDHAc.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=)
19g.41424512G>CCA406015405BCKDHAc.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)
19g.41424512G>TCA406015406BCKDHAc.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)
19g.41424513G>ACA9461412BCKDHAc.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
19g.41424513G>CCA406015407BCKDHAc.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)
19g.41424513G=CA2336460051BCKDHAc.1243G= (p.Glu415=)
c.1252G= (p.Glu418=)
c.1345G= (p.Glu449=)
c.73G=
c.922+1816G= (n.922+1816G=)
c.1240G= (p.Glu414=)
19g.41424513G>TCA406015408BCKDHAc.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)
19g.41424514A>CCA406015409BCKDHAc.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)
19g.41424514A>GCA406015410BCKDHAc.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)
19g.41424514A>TCA406015411BCKDHAc.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
19g.41424515G>ACA507560689BCKDHAc.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=)
19g.41424515G>CCA406015412BCKDHAc.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)
19g.41424515G>TCA406015413BCKDHAc.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)
19g.41424516A=CA2336460052BCKDHAc.1246A= (p.Met416=)
c.1255A= (p.Met419=)
c.1348A= (p.Met450=)
c.76A=
c.922+1819A= (n.922+1819A=)
c.1243A= (p.Met415=)
19g.41424516A>CCA406015414BCKDHAc.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)
19g.41424516A>GCA9461413BCKDHAc.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
19g.41424516A>TCA406015415BCKDHAc.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)
19g.41424517T>ACA406015416BCKDHAc.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)
19g.41424517T>CCA406015417BCKDHAc.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)
19g.41424517T>GCA406015418BCKDHAc.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)
19g.41424517_41424521delinsTGCCCCA2336460053BCKDHAc.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=)
19g.41424518G>ACA406015419BCKDHAc.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)
19g.41424518G>CCA406015420BCKDHAc.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)
19g.41424518G>TCA406015421BCKDHAc.1248G>T (p.Met416Ile)
c.1257G>T (p.Met419Ile)
c.1350G>T (p.Met450Ile)
c.78G>T
c.922+1821G>T (n.922+1821G>T)
c.1245G>T (p.Met415Ile)
19g.41424522_41424525delCA995977497BCKDHAc.1252_1255del (p.Ala418SerfsTer?)
c.1261_1264del (p.Ala421SerfsTer?)
c.1354_1357del (p.Ala452SerfsTer?)
c.82_85del
c.922+1825_922+1828del (n.922+1825_922+1828del)
c.1249_1252del (p.Ala417SerfsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.41424519C>ACA406015422BCKDHAc.1249C>A (p.Pro417Thr)
c.1258C>A (p.Pro420Thr)
c.1351C>A (p.Pro451Thr)
c.79C>A
c.922+1822C>A (n.922+1822C>A)
c.1246C>A (p.Pro416Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.41424519C=CA2336460054BCKDHAc.1249C= (p.Pro417=)
c.1258C= (p.Pro420=)
c.1351C= (p.Pro451=)
c.79C=
c.922+1822C= (n.922+1822C=)
c.1246C= (p.Pro416=)
19g.41424519C>GCA406015423BCKDHAc.1249C>G (p.Pro417Ala)
c.1258C>G (p.Pro420Ala)
c.1351C>G (p.Pro451Ala)
c.79C>G
c.922+1822C>G (n.922+1822C>G)
c.1246C>G (p.Pro416Ala)
19g.41424519C>TCA406015424BCKDHAc.1249C>T (p.Pro417Ser)
c.1258C>T (p.Pro420Ser)
c.1351C>T (p.Pro451Ser)
c.79C>T
c.922+1822C>T (n.922+1822C>T)
c.1246C>T (p.Pro416Ser)
 dbSNP
19g.41424521delCA2586963979BCKDHAc.1251del (p.Ala418ProfsTer?)
c.1260del (p.Ala421ProfsTer?)
c.1353del (p.Ala452ProfsTer?)
c.81del
c.922+1824del (n.922+1824del)
c.1248del (p.Ala417ProfsTer?)
 ClinVar
19g.41424520C>ACA406015425BCKDHAc.1250C>A (p.Pro417His)
c.1259C>A (p.Pro420His)
c.1352C>A (p.Pro451His)
c.80C>A
c.922+1823C>A (n.922+1823C>A)
c.1247C>A (p.Pro416His)
19g.41424520C>GCA406015429BCKDHAc.1250C>G (p.Pro417Arg)
c.1259C>G (p.Pro420Arg)
c.1352C>G (p.Pro451Arg)
c.80C>G
c.922+1823C>G (n.922+1823C>G)
c.1247C>G (p.Pro416Arg)
19g.41424520C>TCA406015427BCKDHAc.1250C>T (p.Pro417Leu)
c.1259C>T (p.Pro420Leu)
c.1352C>T (p.Pro451Leu)
c.80C>T
c.922+1823C>T (n.922+1823C>T)
c.1247C>T (p.Pro416Leu)
19g.41424521C>ACA507560690BCKDHAc.1251C>A (p.Pro417=)
c.1260C>A (p.Pro420=)
c.1353C>A (p.Pro451=)
c.81C>A
c.922+1824C>A (n.922+1824C>A)
c.1248C>A (p.Pro416=)
 gnomAD v4
19g.41424521C=CA2336460055BCKDHAc.1251C= (p.Pro417=)
c.1260C= (p.Pro420=)
c.1353C= (p.Pro451=)
c.81C=
c.922+1824C= (n.922+1824C=)
c.1248C= (p.Pro416=)
19g.41424521C>GCA507560691BCKDHAc.1251C>G (p.Pro417=)
c.1260C>G (p.Pro420=)
c.1353C>G (p.Pro451=)
c.81C>G
c.922+1824C>G (n.922+1824C>G)
c.1248C>G (p.Pro416=)
 dbSNP gnomAD v2 gnomAD v4
19g.41424521C>TCA233525BCKDHAc.1251C>T (p.Pro417=)
c.1260C>T (p.Pro420=)
c.1353C>T (p.Pro451=)
c.81C>T
c.922+1824C>T (n.922+1824C>T)
c.1248C>T (p.Pro416=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41424522G>ACA9461414BCKDHAc.1252G>A (p.Ala418Thr)
c.1261G>A (p.Ala421Thr)
c.1354G>A (p.Ala452Thr)
c.82G>A
c.922+1825G>A (n.922+1825G>A)
c.1249G>A (p.Ala417Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41424522G>CCA406015433BCKDHAc.1252G>C (p.Ala418Pro)
c.1261G>C (p.Ala421Pro)
c.1354G>C (p.Ala452Pro)
c.82G>C
c.922+1825G>C (n.922+1825G>C)
c.1249G>C (p.Ala417Pro)
19g.41424522G=CA2336460056BCKDHAc.1252G= (p.Ala418=)
c.1261G= (p.Ala421=)
c.1354G= (p.Ala452=)
c.82G=
c.922+1825G= (n.922+1825G=)
c.1249G= (p.Ala417=)
19g.41424522G>TCA406015435BCKDHAc.1252G>T (p.Ala418Ser)
c.1261G>T (p.Ala421Ser)
c.1354G>T (p.Ala452Ser)
c.82G>T
c.922+1825G>T (n.922+1825G>T)
c.1249G>T (p.Ala417Ser)
 gnomAD v4
19g.41424523C>ACA406015437BCKDHAc.1253C>A (p.Ala418Asp)
c.1262C>A (p.Ala421Asp)
c.1355C>A (p.Ala452Asp)
c.83C>A
c.922+1826C>A (n.922+1826C>A)
c.1250C>A (p.Ala417Asp)
19g.41424523C>GCA406015439BCKDHAc.1253C>G (p.Ala418Gly)
c.1262C>G (p.Ala421Gly)
c.1355C>G (p.Ala452Gly)
c.83C>G
c.922+1826C>G (n.922+1826C>G)
c.1250C>G (p.Ala417Gly)
19g.41424523C>TCA406015440BCKDHAc.1253C>T (p.Ala418Val)
c.1262C>T (p.Ala421Val)
c.1355C>T (p.Ala452Val)
c.83C>T
c.922+1826C>T (n.922+1826C>T)
c.1250C>T (p.Ala417Val)
19g.41424524C>ACA507560692BCKDHAc.1254C>A (p.Ala418=)
c.1263C>A (p.Ala421=)
c.1356C>A (p.Ala452=)
c.84C>A
c.922+1827C>A (n.922+1827C>A)
c.1251C>A (p.Ala417=)
19g.41424524C>GCA507560693BCKDHAc.1254C>G (p.Ala418=)
c.1263C>G (p.Ala421=)
c.1356C>G (p.Ala452=)
c.84C>G
c.922+1827C>G (n.922+1827C>G)
c.1251C>G (p.Ala417=)
19g.41424524C>TCA507560694BCKDHAc.1254C>T (p.Ala418=)
c.1263C>T (p.Ala421=)
c.1356C>T (p.Ala452=)
c.84C>T
c.922+1827C>T (n.922+1827C>T)
c.1251C>T (p.Ala417=)
19g.41424525C>ACA406015441BCKDHAc.1255C>A (p.Gln419Lys)
c.1264C>A (p.Gln422Lys)
c.1357C>A (p.Gln453Lys)
c.85C>A
c.922+1828C>A (n.922+1828C>A)
c.1252C>A (p.Gln418Lys)
19g.41424525C=CA2336460057BCKDHAc.1255C= (p.Gln419=)
c.1264C= (p.Gln422=)
c.1357C= (p.Gln453=)
c.85C=
c.922+1828C= (n.922+1828C=)
c.1252C= (p.Gln418=)
19g.41424525C>GCA406015443BCKDHAc.1255C>G (p.Gln419Glu)
c.1264C>G (p.Gln422Glu)
c.1357C>G (p.Gln453Glu)
c.85C>G
c.922+1828C>G (n.922+1828C>G)
c.1252C>G (p.Gln418Glu)
 gnomAD v4
19g.41424525C>TCA406015445BCKDHAc.1255C>T (p.Gln419Ter)
c.1264C>T (p.Gln422Ter)
c.1357C>T (p.Gln453Ter)
c.85C>T
c.922+1828C>T (n.922+1828C>T)
c.1252C>T (p.Gln418Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41424526A=CA2336460058BCKDHAc.1256A= (p.Gln419=)
c.1265A= (p.Gln422=)
c.1358A= (p.Gln453=)
c.86A=
c.922+1829A= (n.922+1829A=)
c.1253A= (p.Gln418=)
19g.41424526A>CCA406015450BCKDHAc.1256A>C (p.Gln419Pro)
c.1265A>C (p.Gln422Pro)
c.1358A>C (p.Gln453Pro)
c.86A>C
c.922+1829A>C (n.922+1829A>C)
c.1253A>C (p.Gln418Pro)
19g.41424526A>GCA9461415BCKDHAc.1256A>G (p.Gln419Arg)
c.1265A>G (p.Gln422Arg)
c.1358A>G (p.Gln453Arg)
c.86A>G
c.922+1829A>G (n.922+1829A>G)
c.1253A>G (p.Gln418Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424526A>TCA406015447BCKDHAc.1256A>T (p.Gln419Leu)
c.1265A>T (p.Gln422Leu)
c.1358A>T (p.Gln453Leu)
c.86A>T
c.922+1829A>T (n.922+1829A>T)
c.1253A>T (p.Gln418Leu)
19g.41424527G>ACA507560695BCKDHAc.1257G>A (p.Gln419=)
c.1266G>A (p.Gln422=)
c.1359G>A (p.Gln453=)
c.87G>A
c.922+1830G>A (n.922+1830G>A)
c.1254G>A (p.Gln418=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424527G>CCA406015452BCKDHAc.1257G>C (p.Gln419His)
c.1266G>C (p.Gln422His)
c.1359G>C (p.Gln453His)
c.87G>C
c.922+1830G>C (n.922+1830G>C)
c.1254G>C (p.Gln418His)
19g.41424527G=CA2336460059BCKDHAc.1257G= (p.Gln419=)
c.1266G= (p.Gln422=)
c.1359G= (p.Gln453=)
c.87G=
c.922+1830G= (n.922+1830G=)
c.1254G= (p.Gln418=)
19g.41424527G>TCA406015453BCKDHAc.1257G>T (p.Gln419His)
c.1266G>T (p.Gln422His)
c.1359G>T (p.Gln453His)
c.87G>T
c.922+1830G>T (n.922+1830G>T)
c.1254G>T (p.Gln418His)
19g.41424528C>ACA406015455BCKDHAc.1258C>A (p.Leu420Ile)
c.1267C>A (p.Leu423Ile)
c.1360C>A (p.Leu454Ile)
c.88C>A
c.922+1831C>A (n.922+1831C>A)
c.1255C>A (p.Leu419Ile)
19g.41424528C>GCA406015458BCKDHAc.1258C>G (p.Leu420Val)
c.1267C>G (p.Leu423Val)
c.1360C>G (p.Leu454Val)
c.88C>G
c.922+1831C>G (n.922+1831C>G)
c.1255C>G (p.Leu419Val)
19g.41424528C>TCA406015459BCKDHAc.1258C>T (p.Leu420Phe)
c.1267C>T (p.Leu423Phe)
c.1360C>T (p.Leu454Phe)
c.88C>T
c.922+1831C>T (n.922+1831C>T)
c.1255C>T (p.Leu419Phe)
19g.41424529T>ACA406015462BCKDHAc.1259T>A (p.Leu420His)
c.1268T>A (p.Leu423His)
c.1361T>A (p.Leu454His)
c.89T>A
c.922+1832T>A (n.922+1832T>A)
c.1256T>A (p.Leu419His)
19g.41424529T>CCA406015464BCKDHAc.1259T>C (p.Leu420Pro)
c.1268T>C (p.Leu423Pro)
c.1361T>C (p.Leu454Pro)
c.89T>C
c.922+1832T>C (n.922+1832T>C)
c.1256T>C (p.Leu419Pro)
19g.41424529T>GCA406015465BCKDHAc.1259T>G (p.Leu420Arg)
c.1268T>G (p.Leu423Arg)
c.1361T>G (p.Leu454Arg)
c.89T>G
c.922+1832T>G (n.922+1832T>G)
c.1256T>G (p.Leu419Arg)
19g.41424530C>ACA507560696BCKDHAc.1260C>A (p.Leu420=)
c.1269C>A (p.Leu423=)
c.1362C>A (p.Leu454=)
c.90C>A
c.922+1833C>A (n.922+1833C>A)
c.1257C>A (p.Leu419=)
19g.41424530C=CA2336460060BCKDHAc.1260C= (p.Leu420=)
c.1269C= (p.Leu423=)
c.1362C= (p.Leu454=)
c.90C=
c.922+1833C= (n.922+1833C=)
c.1257C= (p.Leu419=)
19g.41424530C>GCA507560697BCKDHAc.1260C>G (p.Leu420=)
c.1269C>G (p.Leu423=)
c.1362C>G (p.Leu454=)
c.90C>G
c.922+1833C>G (n.922+1833C>G)
c.1257C>G (p.Leu419=)
19g.41424530C>TCA146871BCKDHAc.1260C>T (p.Leu420=)
c.1269C>T (p.Leu423=)
c.1362C>T (p.Leu454=)
c.90C>T
c.922+1833C>T (n.922+1833C>T)
c.1257C>T (p.Leu419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424531C>ACA406015469BCKDHAc.1261C>A (p.Arg421Ser)
c.1270C>A (p.Arg424Ser)
c.1363C>A (p.Arg455Ser)
c.91C>A
c.922+1834C>A (n.922+1834C>A)
c.1258C>A (p.Arg420Ser)
19g.41424531C=CA2336460061BCKDHAc.1261C= (p.Arg421=)
c.1270C= (p.Arg424=)
c.1363C= (p.Arg455=)
c.91C=
c.922+1834C= (n.922+1834C=)
c.1258C= (p.Arg420=)
19g.41424531C>GCA406015470BCKDHAc.1261C>G (p.Arg421Gly)
c.1270C>G (p.Arg424Gly)
c.1363C>G (p.Arg455Gly)
c.91C>G
c.922+1834C>G (n.922+1834C>G)
c.1258C>G (p.Arg420Gly)
 dbSNP gnomAD v4
19g.41424531C>TCA9461416BCKDHAc.1261C>T (p.Arg421Cys)
c.1270C>T (p.Arg424Cys)
c.1363C>T (p.Arg455Cys)
c.91C>T
c.922+1834C>T (n.922+1834C>T)
c.1258C>T (p.Arg420Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424532G>ACA9461417BCKDHAc.1262G>A (p.Arg421His)
c.1271G>A (p.Arg424His)
c.1364G>A (p.Arg455His)
c.92G>A
c.922+1835G>A (n.922+1835G>A)
c.1259G>A (p.Arg420His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41424532G>CCA406015476BCKDHAc.1262G>C (p.Arg421Pro)
c.1271G>C (p.Arg424Pro)
c.1364G>C (p.Arg455Pro)
c.92G>C
c.922+1835G>C (n.922+1835G>C)
c.1259G>C (p.Arg420Pro)
19g.41424532G=CA2336460062BCKDHAc.1262G= (p.Arg421=)
c.1271G= (p.Arg424=)
c.1364G= (p.Arg455=)
c.92G=
c.922+1835G= (n.922+1835G=)
c.1259G= (p.Arg420=)
19g.41424532G>TCA406015473BCKDHAc.1262G>T (p.Arg421Leu)
c.1271G>T (p.Arg424Leu)
c.1364G>T (p.Arg455Leu)
c.92G>T
c.922+1835G>T (n.922+1835G>T)
c.1259G>T (p.Arg420Leu)
19g.41424535_41424538delCA913016479BCKDHAc.1265_1268del (p.Lys422SerfsTer?)
c.1274_1277del (p.Lys425SerfsTer?)
c.1367_1370del (p.Lys456SerfsTer?)
c.95_98del
c.922+1838_922+1841del (n.922+1838_922+1841del)
c.1262_1265del (p.Lys421SerfsTer?)
19g.41424533C>ACA507560698BCKDHAc.1263C>A (p.Arg421=)
c.1272C>A (p.Arg424=)
c.1365C>A (p.Arg455=)
c.93C>A
c.922+1836C>A (n.922+1836C>A)
c.1260C>A (p.Arg420=)
19g.41424533C=CA2336460063BCKDHAc.1263C= (p.Arg421=)
c.1272C= (p.Arg424=)
c.1365C= (p.Arg455=)
c.93C=
c.922+1836C= (n.922+1836C=)
c.1260C= (p.Arg420=)
19g.41424533C>GCA507560699BCKDHAc.1263C>G (p.Arg421=)
c.1272C>G (p.Arg424=)
c.1365C>G (p.Arg455=)
c.93C>G
c.922+1836C>G (n.922+1836C>G)
c.1260C>G (p.Arg420=)
19g.41424533C>TCA9461418BCKDHAc.1263C>T (p.Arg421=)
c.1272C>T (p.Arg424=)
c.1365C>T (p.Arg455=)
c.93C>T
c.922+1836C>T (n.922+1836C>T)
c.1260C>T (p.Arg420=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424534A=CA2336460064BCKDHAc.1264A= (p.Lys422=)
c.1273A= (p.Lys425=)
c.1366A= (p.Lys456=)
c.94A=
c.922+1837A= (n.922+1837A=)
c.1261A= (p.Lys421=)
19g.41424534A>CCA406015479BCKDHAc.1264A>C (p.Lys422Gln)
c.1273A>C (p.Lys425Gln)
c.1366A>C (p.Lys456Gln)
c.94A>C
c.922+1837A>C (n.922+1837A>C)
c.1261A>C (p.Lys421Gln)
19g.41424534A>GCA406015480BCKDHAc.1264A>G (p.Lys422Glu)
c.1273A>G (p.Lys425Glu)
c.1366A>G (p.Lys456Glu)
c.94A>G
c.922+1837A>G (n.922+1837A>G)
c.1261A>G (p.Lys421Glu)
 dbSNP gnomAD v4
19g.41424534A>TCA406015482BCKDHAc.1264A>T (p.Lys422Ter)
c.1273A>T (p.Lys425Ter)
c.1366A>T (p.Lys456Ter)
c.94A>T
c.922+1837A>T (n.922+1837A>T)
c.1261A>T (p.Lys421Ter)
19g.41424534_41424537delinsAAGCCA2336460065BCKDHAc.1264_1267delinsAAGC (p.Lys422=)
c.1273_1276delinsAAGC (p.Lys425=)
c.1366_1369delinsAAGC (p.Lys456=)
c.94_97delinsAAGC
c.922+1837_922+1840delinsAAGC (n.922+1837_922+1840delinsAAGC)
c.1261_1264delinsAAGC (p.Lys421=)
19g.41424535A>CCA406015484BCKDHAc.1265A>C (p.Lys422Thr)
c.1274A>C (p.Lys425Thr)
c.1367A>C (p.Lys456Thr)
c.95A>C
c.922+1838A>C (n.922+1838A>C)
c.1262A>C (p.Lys421Thr)
19g.41424535A>GCA406015486BCKDHAc.1265A>G (p.Lys422Arg)
c.1274A>G (p.Lys425Arg)
c.1367A>G (p.Lys456Arg)
c.95A>G
c.922+1838A>G (n.922+1838A>G)
c.1262A>G (p.Lys421Arg)
19g.41424535A>TCA406015488BCKDHAc.1265A>T (p.Lys422Met)
c.1274A>T (p.Lys425Met)
c.1367A>T (p.Lys456Met)
c.95A>T
c.922+1838A>T (n.922+1838A>T)
c.1262A>T (p.Lys421Met)
19g.41424540_41424542delCA658823825BCKDHAc.1270_1272del (p.Gln424del)
c.1279_1281del (p.Gln427del)
c.1372_1374del (p.Gln458del)
c.100_102del
c.922+1843_922+1845del (n.922+1843_922+1845del)
c.1267_1269del (p.Gln423del)
 ClinVar dbSNP
19g.41424536G>ACA507560701BCKDHAc.1266G>A (p.Lys422=)
c.1275G>A (p.Lys425=)
c.1368G>A (p.Lys456=)
c.96G>A
c.922+1839G>A (n.922+1839G>A)
c.1263G>A (p.Lys421=)
19g.41424536G>CCA406015489BCKDHAc.1266G>C (p.Lys422Asn)
c.1275G>C (p.Lys425Asn)
c.1368G>C (p.Lys456Asn)
c.96G>C
c.922+1839G>C (n.922+1839G>C)
c.1263G>C (p.Lys421Asn)
19g.41424536G>TCA406015491BCKDHAc.1266G>T (p.Lys422Asn)
c.1275G>T (p.Lys425Asn)
c.1368G>T (p.Lys456Asn)
c.96G>T
c.922+1839G>T (n.922+1839G>T)
c.1263G>T (p.Lys421Asn)
19g.41424537C>ACA406015494BCKDHAc.1267C>A (p.Gln423Lys)
c.1276C>A (p.Gln426Lys)
c.1369C>A (p.Gln457Lys)
c.97C>A
c.922+1840C>A (n.922+1840C>A)
c.1264C>A (p.Gln422Lys)
19g.41424537C=CA2336460066BCKDHAc.1267C= (p.Gln423=)
c.1276C= (p.Gln426=)
c.1369C= (p.Gln457=)
c.97C=
c.922+1840C= (n.922+1840C=)
c.1264C= (p.Gln422=)
19g.41424537C>GCA406015495BCKDHAc.1267C>G (p.Gln423Glu)
c.1276C>G (p.Gln426Glu)
c.1369C>G (p.Gln457Glu)
c.97C>G
c.922+1840C>G (n.922+1840C>G)
c.1264C>G (p.Gln422Glu)
19g.41424537C>TCA406015497BCKDHAc.1267C>T (p.Gln423Ter)
c.1276C>T (p.Gln426Ter)
c.1369C>T (p.Gln457Ter)
c.97C>T
c.922+1840C>T (n.922+1840C>T)
c.1264C>T (p.Gln422Ter)
 dbSNP
19g.41424538A>CCA406015499BCKDHAc.1268A>C (p.Gln423Pro)
c.1277A>C (p.Gln426Pro)
c.1370A>C (p.Gln457Pro)
c.98A>C
c.922+1841A>C (n.922+1841A>C)
c.1265A>C (p.Gln422Pro)
19g.41424538A>GCA406015501BCKDHAc.1268A>G (p.Gln423Arg)
c.1277A>G (p.Gln426Arg)
c.1370A>G (p.Gln457Arg)
c.98A>G
c.922+1841A>G (n.922+1841A>G)
c.1265A>G (p.Gln422Arg)
19g.41424538A>TCA406015503BCKDHAc.1268A>T (p.Gln423Leu)
c.1277A>T (p.Gln426Leu)
c.1370A>T (p.Gln457Leu)
c.98A>T
c.922+1841A>T (n.922+1841A>T)
c.1265A>T (p.Gln422Leu)
19g.41424539G>ACA507560702BCKDHAc.1269G>A (p.Gln423=)
c.1278G>A (p.Gln426=)
c.1371G>A (p.Gln457=)
c.99G>A
c.922+1842G>A (n.922+1842G>A)
c.1266G>A (p.Gln422=)
 COSMIC
19g.41424539G>CCA406015505BCKDHAc.1269G>C (p.Gln423His)
c.1278G>C (p.Gln426His)
c.1371G>C (p.Gln457His)
c.99G>C
c.922+1842G>C (n.922+1842G>C)
c.1266G>C (p.Gln422His)
19g.41424539G>TCA406015506BCKDHAc.1269G>T (p.Gln423His)
c.1278G>T (p.Gln426His)
c.1371G>T (p.Gln457His)
c.99G>T
c.922+1842G>T (n.922+1842G>T)
c.1266G>T (p.Gln422His)
19g.41424540C>ACA9461419BCKDHAc.1270C>A (p.Gln424Lys)
c.1279C>A (p.Gln427Lys)
c.1372C>A (p.Gln458Lys)
c.100C>A
c.922+1843C>A (n.922+1843C>A)
c.1267C>A (p.Gln423Lys)
 dbSNP ExAC gnomAD v4
19g.41424540C=CA2336460067BCKDHAc.1270C= (p.Gln424=)
c.1279C= (p.Gln427=)
c.1372C= (p.Gln458=)
c.100C=
c.922+1843C= (n.922+1843C=)
c.1267C= (p.Gln423=)
19g.41424540C>GCA406015508BCKDHAc.1270C>G (p.Gln424Glu)
c.1279C>G (p.Gln427Glu)
c.1372C>G (p.Gln458Glu)
c.100C>G
c.922+1843C>G (n.922+1843C>G)
c.1267C>G (p.Gln423Glu)
 dbSNP gnomAD v4
19g.41424540C>TCA406015510BCKDHAc.1270C>T (p.Gln424Ter)
c.1279C>T (p.Gln427Ter)
c.1372C>T (p.Gln458Ter)
c.100C>T
c.922+1843C>T (n.922+1843C>T)
c.1267C>T (p.Gln423Ter)
 dbSNP
19g.41424540dupCA2695228772BCKDHAc.1270dup (p.Gln424ProfsTer22)
c.1279dup (p.Gln427ProfsTer22)
c.1372dup (p.Gln458ProfsTer22)
c.100dup
c.922+1843dup (n.922+1843dup)
c.1267dup (p.Gln423ProfsTer22)
19g.41424541A>CCA406015512BCKDHAc.1271A>C (p.Gln424Pro)
c.1280A>C (p.Gln427Pro)
c.1373A>C (p.Gln458Pro)
c.101A>C
c.922+1844A>C (n.922+1844A>C)
c.1268A>C (p.Gln423Pro)
19g.41424541A>GCA406015514BCKDHAc.1271A>G (p.Gln424Arg)
c.1280A>G (p.Gln427Arg)
c.1373A>G (p.Gln458Arg)
c.101A>G
c.922+1844A>G (n.922+1844A>G)
c.1268A>G (p.Gln423Arg)
19g.41424541A>TCA406015516BCKDHAc.1271A>T (p.Gln424Leu)
c.1280A>T (p.Gln427Leu)
c.1373A>T (p.Gln458Leu)
c.101A>T
c.922+1844A>T (n.922+1844A>T)
c.1268A>T (p.Gln423Leu)
 COSMIC
19g.41424542G>ACA507560703BCKDHAc.1272G>A (p.Gln424=)
c.1281G>A (p.Gln427=)
c.1374G>A (p.Gln458=)
c.102G>A
c.922+1845G>A (n.922+1845G>A)
c.1269G>A (p.Gln423=)
 dbSNP gnomAD v3 gnomAD v4
19g.41424542G>CCA406015518BCKDHAc.1272G>C (p.Gln424His)
c.1281G>C (p.Gln427His)
c.1374G>C (p.Gln458His)
c.102G>C
c.922+1845G>C (n.922+1845G>C)
c.1269G>C (p.Gln423His)
19g.41424542G=CA2336460068BCKDHAc.1272G= (p.Gln424=)
c.1281G= (p.Gln427=)
c.1374G= (p.Gln458=)
c.102G=
c.922+1845G= (n.922+1845G=)
c.1269G= (p.Gln423=)
19g.41424542G>TCA406015520BCKDHAc.1272G>T (p.Gln424His)
c.1281G>T (p.Gln427His)
c.1374G>T (p.Gln458His)
c.102G>T
c.922+1845G>T (n.922+1845G>T)
c.1269G>T (p.Gln423His)
19g.41424543G>ACA406015522BCKDHAc.1273G>A (p.Glu425Lys)
c.1282G>A (p.Glu428Lys)
c.1375G>A (p.Glu459Lys)
c.103G>A
c.922+1846G>A (n.922+1846G>A)
c.1270G>A (p.Glu424Lys)
 gnomAD v4
19g.41424543G>CCA406015524BCKDHAc.1273G>C (p.Glu425Gln)
c.1282G>C (p.Glu428Gln)
c.1375G>C (p.Glu459Gln)
c.103G>C
c.922+1846G>C (n.922+1846G>C)
c.1270G>C (p.Glu424Gln)
19g.41424543G>TCA406015527BCKDHAc.1273G>T (p.Glu425Ter)
c.1282G>T (p.Glu428Ter)
c.1375G>T (p.Glu459Ter)
c.103G>T
c.922+1846G>T (n.922+1846G>T)
c.1270G>T (p.Glu424Ter)
19g.41424544A>CCA406015532BCKDHAc.1274A>C (p.Glu425Ala)
c.1283A>C (p.Glu428Ala)
c.1376A>C (p.Glu459Ala)
c.104A>C
c.922+1847A>C (n.922+1847A>C)
c.1271A>C (p.Glu424Ala)
19g.41424544A>GCA406015530BCKDHAc.1274A>G (p.Glu425Gly)
c.1283A>G (p.Glu428Gly)
c.1376A>G (p.Glu459Gly)
c.104A>G
c.922+1847A>G (n.922+1847A>G)
c.1271A>G (p.Glu424Gly)
19g.41424544A>TCA406015528BCKDHAc.1274A>T (p.Glu425Val)
c.1283A>T (p.Glu428Val)
c.1376A>T (p.Glu459Val)
c.104A>T
c.922+1847A>T (n.922+1847A>T)
c.1271A>T (p.Glu424Val)
19g.41424545G>ACA507560704BCKDHAc.1275G>A (p.Glu425=)
c.1284G>A (p.Glu428=)
c.1377G>A (p.Glu459=)
c.105G>A
c.922+1848G>A (n.922+1848G>A)
c.1272G>A (p.Glu424=)
 ClinVar dbSNP
19g.41424545G>CCA406015534BCKDHAc.1275G>C (p.Glu425Asp)
c.1284G>C (p.Glu428Asp)
c.1377G>C (p.Glu459Asp)
c.105G>C
c.922+1848G>C (n.922+1848G>C)
c.1272G>C (p.Glu424Asp)
19g.41424545G>TCA406015536BCKDHAc.1275G>T (p.Glu425Asp)
c.1284G>T (p.Glu428Asp)
c.1377G>T (p.Glu459Asp)
c.105G>T
c.922+1848G>T (n.922+1848G>T)
c.1272G>T (p.Glu424Asp)
19g.41424546T>ACA406015538BCKDHAc.1276T>A (p.Ser426Thr)
c.1285T>A (p.Ser429Thr)
c.1378T>A (p.Ser460Thr)
c.106T>A
c.922+1849T>A (n.922+1849T>A)
c.1273T>A (p.Ser425Thr)
19g.41424546T>CCA406015540BCKDHAc.1276T>C (p.Ser426Pro)
c.1285T>C (p.Ser429Pro)
c.1378T>C (p.Ser460Pro)
c.106T>C
c.922+1849T>C (n.922+1849T>C)
c.1273T>C (p.Ser425Pro)
19g.41424546T>GCA406015542BCKDHAc.1276T>G (p.Ser426Ala)
c.1285T>G (p.Ser429Ala)
c.1378T>G (p.Ser460Ala)
c.106T>G
c.922+1849T>G (n.922+1849T>G)
c.1273T>G (p.Ser425Ala)
 gnomAD v4
19g.41424547C>ACA406015545BCKDHAc.1277C>A (p.Ser426Tyr)
c.1286C>A (p.Ser429Tyr)
c.1379C>A (p.Ser460Tyr)
c.107C>A
c.922+1850C>A (n.922+1850C>A)
c.1274C>A (p.Ser425Tyr)
19g.41424547C=CA2336460069BCKDHAc.1277C= (p.Ser426=)
c.1286C= (p.Ser429=)
c.1379C= (p.Ser460=)
c.107C=
c.922+1850C= (n.922+1850C=)
c.1274C= (p.Ser425=)
19g.41424547C>GCA406015543BCKDHAc.1277C>G (p.Ser426Cys)
c.1286C>G (p.Ser429Cys)
c.1379C>G (p.Ser460Cys)
c.107C>G
c.922+1850C>G (n.922+1850C>G)
c.1274C>G (p.Ser425Cys)
19g.41424547C>TCA248006BCKDHAc.1277C>T (p.Ser426Phe)
c.1286C>T (p.Ser429Phe)
c.1379C>T (p.Ser460Phe)
c.107C>T
c.922+1850C>T (n.922+1850C>T)
c.1274C>T (p.Ser425Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424548T>ACA507560705BCKDHAc.1278T>A (p.Ser426=)
c.1287T>A (p.Ser429=)
c.1380T>A (p.Ser460=)
c.108T>A
c.922+1851T>A (n.922+1851T>A)
c.1275T>A (p.Ser425=)
 ClinVar dbSNP
19g.41424548T>CCA507560708BCKDHAc.1278T>C (p.Ser426=)
c.1287T>C (p.Ser429=)
c.1380T>C (p.Ser460=)
c.108T>C
c.922+1851T>C (n.922+1851T>C)
c.1275T>C (p.Ser425=)
19g.41424548T>GCA507560707BCKDHAc.1278T>G (p.Ser426=)
c.1287T>G (p.Ser429=)
c.1380T>G (p.Ser460=)
c.108T>G
c.922+1851T>G (n.922+1851T>G)
c.1275T>G (p.Ser425=)
19g.41424549C>ACA406015548BCKDHAc.1279C>A (p.Leu427Met)
c.1288C>A (p.Leu430Met)
c.1381C>A (p.Leu461Met)
c.109C>A
c.922+1852C>A (n.922+1852C>A)
c.1276C>A (p.Leu426Met)
19g.41424549C>GCA406015549BCKDHAc.1279C>G (p.Leu427Val)
c.1288C>G (p.Leu430Val)
c.1381C>G (p.Leu461Val)
c.109C>G
c.922+1852C>G (n.922+1852C>G)
c.1276C>G (p.Leu426Val)
19g.41424549C>TCA507560709BCKDHAc.1279C>T (p.Leu427=)
c.1288C>T (p.Leu430=)
c.1381C>T (p.Leu461=)
c.109C>T
c.922+1852C>T (n.922+1852C>T)
c.1276C>T (p.Leu426=)
19g.41424549_41424552delinsCTGGCA2336460070BCKDHAc.1279_1282delinsCTGG (p.Leu427=)
c.1288_1291delinsCTGG (p.Leu430=)
c.1381_1384delinsCTGG (p.Leu461=)
c.109_112delinsCTGG
c.922+1852_922+1855delinsCTGG (n.922+1852_922+1855delinsCTGG)
c.1276_1279delinsCTGG (p.Leu426=)
19g.41424550_41424553delCA913016480BCKDHAc.1280_1283del (p.Leu427ProfsTer?)
c.1289_1292del (p.Leu430ProfsTer?)
c.1382_1385del (p.Leu461ProfsTer?)
c.110_113del
c.922+1853_922+1856del (n.922+1853_922+1856del)
c.1277_1280del (p.Leu426ProfsTer?)
19g.41424552_41424563delCA2695228773BCKDHAc.1282_1293del (p.Ala428_Leu431del)
c.1291_1302del (p.Ala431_Leu434del)
c.1384_1395del (p.Ala462_Leu465del)
c.112_123del
c.922+1855_922+1866del (n.922+1855_922+1866del)
c.1279_1290del (p.Ala427_Leu430del)
19g.41424550T>ACA406015553BCKDHAc.1280T>A (p.Leu427Gln)
c.1289T>A (p.Leu430Gln)
c.1382T>A (p.Leu461Gln)
c.110T>A
c.922+1853T>A (n.922+1853T>A)
c.1277T>A (p.Leu426Gln)
19g.41424550T>CCA406015554BCKDHAc.1280T>C (p.Leu427Pro)
c.1289T>C (p.Leu430Pro)
c.1382T>C (p.Leu461Pro)
c.110T>C
c.922+1853T>C (n.922+1853T>C)
c.1277T>C (p.Leu426Pro)
19g.41424550T>GCA406015556BCKDHAc.1280T>G (p.Leu427Arg)
c.1289T>G (p.Leu430Arg)
c.1382T>G (p.Leu461Arg)
c.110T>G
c.922+1853T>G (n.922+1853T>G)
c.1277T>G (p.Leu426Arg)
19g.41424550_41424552delCA9461420BCKDHAc.1280_1282del (p.Leu427_Ala428delinsPro)
c.1289_1291del (p.Leu430_Ala431delinsPro)
c.1382_1384del (p.Leu461_Ala462delinsPro)
c.110_112del
c.922+1853_922+1855del (n.922+1853_922+1855del)
c.1277_1279del (p.Leu426_Ala427delinsPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424551G>ACA507560710BCKDHAc.1281G>A (p.Leu427=)
c.1290G>A (p.Leu430=)
c.1383G>A (p.Leu461=)
c.111G>A
c.922+1854G>A (n.922+1854G>A)
c.1278G>A (p.Leu426=)
 gnomAD v4
19g.41424551G>CCA507560711BCKDHAc.1281G>C (p.Leu427=)
c.1290G>C (p.Leu430=)
c.1383G>C (p.Leu461=)
c.111G>C
c.922+1854G>C (n.922+1854G>C)
c.1278G>C (p.Leu426=)
 ClinVar
19g.41424551G>TCA507560712BCKDHAc.1281G>T (p.Leu427=)
c.1290G>T (p.Leu430=)
c.1383G>T (p.Leu461=)
c.111G>T
c.922+1854G>T (n.922+1854G>T)
c.1278G>T (p.Leu426=)
19g.41424552G>ACA406015561BCKDHAc.1282G>A (p.Ala428Thr)
c.1291G>A (p.Ala431Thr)
c.1384G>A (p.Ala462Thr)
c.112G>A
c.922+1855G>A (n.922+1855G>A)
c.1279G>A (p.Ala427Thr)
 gnomAD v4
19g.41424552G>CCA406015565BCKDHAc.1282G>C (p.Ala428Pro)
c.1291G>C (p.Ala431Pro)
c.1384G>C (p.Ala462Pro)
c.112G>C
c.922+1855G>C (n.922+1855G>C)
c.1279G>C (p.Ala427Pro)
19g.41424552G>TCA406015563BCKDHAc.1282G>T (p.Ala428Ser)
c.1291G>T (p.Ala431Ser)
c.1384G>T (p.Ala462Ser)
c.112G>T
c.922+1855G>T (n.922+1855G>T)
c.1279G>T (p.Ala427Ser)
19g.41424552_41424554delCA2695228774BCKDHAc.1282_1284del (p.Ala428del)
c.1291_1293del (p.Ala431del)
c.1384_1386del (p.Ala462del)
c.112_114del
c.922+1855_922+1857del (n.922+1855_922+1857del)
c.1279_1281del (p.Ala427del)
19g.41424553C>ACA406015568BCKDHAc.1283C>A (p.Ala428Asp)
c.1292C>A (p.Ala431Asp)
c.1385C>A (p.Ala462Asp)
c.113C>A
c.922+1856C>A (n.922+1856C>A)
c.1280C>A (p.Ala427Asp)
19g.41424553C=CA2336460071BCKDHAc.1283C= (p.Ala428=)
c.1292C= (p.Ala431=)
c.1385C= (p.Ala462=)
c.113C=
c.922+1856C= (n.922+1856C=)
c.1280C= (p.Ala427=)
19g.41424553C>GCA406015570BCKDHAc.1283C>G (p.Ala428Gly)
c.1292C>G (p.Ala431Gly)
c.1385C>G (p.Ala462Gly)
c.113C>G
c.922+1856C>G (n.922+1856C>G)
c.1280C>G (p.Ala427Gly)
19g.41424553C>TCA406015572BCKDHAc.1283C>T (p.Ala428Val)
c.1292C>T (p.Ala431Val)
c.1385C>T (p.Ala462Val)
c.113C>T
c.922+1856C>T (n.922+1856C>T)
c.1280C>T (p.Ala427Val)
 dbSNP gnomAD v4
19g.41424554C>ACA507560713BCKDHAc.1284C>A (p.Ala428=)
c.1293C>A (p.Ala431=)
c.1386C>A (p.Ala462=)
c.114C>A
c.922+1857C>A (n.922+1857C>A)
c.1281C>A (p.Ala427=)
19g.41424554C>GCA507560714BCKDHAc.1284C>G (p.Ala428=)
c.1293C>G (p.Ala431=)
c.1386C>G (p.Ala462=)
c.114C>G
c.922+1857C>G (n.922+1857C>G)
c.1281C>G (p.Ala427=)
19g.41424554C>TCA507560715BCKDHAc.1284C>T (p.Ala428=)
c.1293C>T (p.Ala431=)
c.1386C>T (p.Ala462=)
c.114C>T
c.922+1857C>T (n.922+1857C>T)
c.1281C>T (p.Ala427=)
19g.41424555C>ACA406015573BCKDHAc.1285C>A (p.Arg429Ser)
c.1294C>A (p.Arg432Ser)
c.1387C>A (p.Arg463Ser)
c.115C>A
c.922+1858C>A (n.922+1858C>A)
c.1282C>A (p.Arg428Ser)
19g.41424555C=CA2336460072BCKDHAc.1285C= (p.Arg429=)
c.1294C= (p.Arg432=)
c.1387C= (p.Arg463=)
c.115C=
c.922+1858C= (n.922+1858C=)
c.1282C= (p.Arg428=)
19g.41424555C>GCA406015576BCKDHAc.1285C>G (p.Arg429Gly)
c.1294C>G (p.Arg432Gly)
c.1387C>G (p.Arg463Gly)
c.115C>G
c.922+1858C>G (n.922+1858C>G)
c.1282C>G (p.Arg428Gly)
19g.41424555C>TCA9461421BCKDHAc.1285C>T (p.Arg429Cys)
c.1294C>T (p.Arg432Cys)
c.1387C>T (p.Arg463Cys)
c.115C>T
c.922+1858C>T (n.922+1858C>T)
c.1282C>T (p.Arg428Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424556G>ACA9461422BCKDHAc.1286G>A (p.Arg429His)
c.1295G>A (p.Arg432His)
c.1388G>A (p.Arg463His)
c.116G>A
c.922+1859G>A (n.922+1859G>A)
c.1283G>A (p.Arg428His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424556G>CCA406015578BCKDHAc.1286G>C (p.Arg429Pro)
c.1295G>C (p.Arg432Pro)
c.1388G>C (p.Arg463Pro)
c.116G>C
c.922+1859G>C (n.922+1859G>C)
c.1283G>C (p.Arg428Pro)
 gnomAD v4
19g.41424556G=CA2336460073BCKDHAc.1286G= (p.Arg429=)
c.1295G= (p.Arg432=)
c.1388G= (p.Arg463=)
c.116G=
c.922+1859G= (n.922+1859G=)
c.1283G= (p.Arg428=)
19g.41424556G>TCA406015580BCKDHAc.1286G>T (p.Arg429Leu)
c.1295G>T (p.Arg432Leu)
c.1388G>T (p.Arg463Leu)
c.116G>T
c.922+1859G>T (n.922+1859G>T)
c.1283G>T (p.Arg428Leu)
 gnomAD v4
19g.41424557C>ACA507560719BCKDHAc.1287C>A (p.Arg429=)
c.1296C>A (p.Arg432=)
c.1389C>A (p.Arg463=)
c.117C>A
c.922+1860C>A (n.922+1860C>A)
c.1284C>A (p.Arg428=)
19g.41424557C>GCA507560718BCKDHAc.1287C>G (p.Arg429=)
c.1296C>G (p.Arg432=)
c.1389C>G (p.Arg463=)
c.117C>G
c.922+1860C>G (n.922+1860C>G)
c.1284C>G (p.Arg428=)
19g.41424557C>TCA507560717BCKDHAc.1287C>T (p.Arg429=)
c.1296C>T (p.Arg432=)
c.1389C>T (p.Arg463=)
c.117C>T
c.922+1860C>T (n.922+1860C>T)
c.1284C>T (p.Arg428=)
 gnomAD v4
19g.41424558C>ACA406015582BCKDHAc.1288C>A (p.His430Asn)
c.1297C>A (p.His433Asn)
c.1390C>A (p.His464Asn)
c.118C>A
c.922+1861C>A (n.922+1861C>A)
c.1285C>A (p.His429Asn)
19g.41424558C>GCA406015583BCKDHAc.1288C>G (p.His430Asp)
c.1297C>G (p.His433Asp)
c.1390C>G (p.His464Asp)
c.118C>G
c.922+1861C>G (n.922+1861C>G)
c.1285C>G (p.His429Asp)
19g.41424558C>TCA406015584BCKDHAc.1288C>T (p.His430Tyr)
c.1297C>T (p.His433Tyr)
c.1390C>T (p.His464Tyr)
c.118C>T
c.922+1861C>T (n.922+1861C>T)
c.1285C>T (p.His429Tyr)
19g.41424559A>CCA406015586BCKDHAc.1289A>C (p.His430Pro)
c.1298A>C (p.His433Pro)
c.1391A>C (p.His464Pro)
c.119A>C
c.922+1862A>C (n.922+1862A>C)
c.1286A>C (p.His429Pro)
19g.41424559A>GCA406015588BCKDHAc.1289A>G (p.His430Arg)
c.1298A>G (p.His433Arg)
c.1391A>G (p.His464Arg)
c.119A>G
c.922+1862A>G (n.922+1862A>G)
c.1286A>G (p.His429Arg)
19g.41424559A>TCA406015585BCKDHAc.1289A>T (p.His430Leu)
c.1298A>T (p.His433Leu)
c.1391A>T (p.His464Leu)
c.119A>T
c.922+1862A>T (n.922+1862A>T)
c.1286A>T (p.His429Leu)
19g.41424560C>ACA406015592BCKDHAc.1290C>A (p.His430Gln)
c.1299C>A (p.His433Gln)
c.1392C>A (p.His464Gln)
c.120C>A
c.922+1863C>A (n.922+1863C>A)
c.1287C>A (p.His429Gln)
19g.41424560C=CA2336460074BCKDHAc.1290C= (p.His430=)
c.1299C= (p.His433=)
c.1392C= (p.His464=)
c.120C=
c.922+1863C= (n.922+1863C=)
c.1287C= (p.His429=)
19g.41424560C>GCA406015589BCKDHAc.1290C>G (p.His430Gln)
c.1299C>G (p.His433Gln)
c.1392C>G (p.His464Gln)
c.120C>G
c.922+1863C>G (n.922+1863C>G)
c.1287C>G (p.His429Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.41424560C>TCA507560720BCKDHAc.1290C>T (p.His430=)
c.1299C>T (p.His433=)
c.1392C>T (p.His464=)
c.120C>T
c.922+1863C>T (n.922+1863C>T)
c.1287C>T (p.His429=)
 gnomAD v4
19g.41424561C>ACA406015595BCKDHAc.1291C>A (p.Leu431Met)
c.1300C>A (p.Leu434Met)
c.1393C>A (p.Leu465Met)
c.121C>A
c.922+1864C>A (n.922+1864C>A)
c.1288C>A (p.Leu430Met)
19g.41424561C>GCA406015597BCKDHAc.1291C>G (p.Leu431Val)
c.1300C>G (p.Leu434Val)
c.1393C>G (p.Leu465Val)
c.121C>G
c.922+1864C>G (n.922+1864C>G)
c.1288C>G (p.Leu430Val)
19g.41424561C>TCA507560721BCKDHAc.1291C>T (p.Leu431=)
c.1300C>T (p.Leu434=)
c.1393C>T (p.Leu465=)
c.121C>T
c.922+1864C>T (n.922+1864C>T)
c.1288C>T (p.Leu430=)
 gnomAD v4
19g.41424562T>ACA406015600BCKDHAc.1292T>A (p.Leu431Gln)
c.1301T>A (p.Leu434Gln)
c.1394T>A (p.Leu465Gln)
c.122T>A
c.922+1865T>A (n.922+1865T>A)
c.1289T>A (p.Leu430Gln)
19g.41424562T>CCA406015601BCKDHAc.1292T>C (p.Leu431Pro)
c.1301T>C (p.Leu434Pro)
c.1394T>C (p.Leu465Pro)
c.122T>C
c.922+1865T>C (n.922+1865T>C)
c.1289T>C (p.Leu430Pro)
19g.41424562T>GCA406015602BCKDHAc.1292T>G (p.Leu431Arg)
c.1301T>G (p.Leu434Arg)
c.1394T>G (p.Leu465Arg)
c.122T>G
c.922+1865T>G (n.922+1865T>G)
c.1289T>G (p.Leu430Arg)
19g.41424563G>ACA507560722BCKDHAc.1293G>A (p.Leu431=)
c.1302G>A (p.Leu434=)
c.1395G>A (p.Leu465=)
c.123G>A
c.922+1866G>A (n.922+1866G>A)
c.1290G>A (p.Leu430=)
19g.41424563G>CCA507560723BCKDHAc.1293G>C (p.Leu431=)
c.1302G>C (p.Leu434=)
c.1395G>C (p.Leu465=)
c.123G>C
c.922+1866G>C (n.922+1866G>C)
c.1290G>C (p.Leu430=)
19g.41424563G>TCA507560724BCKDHAc.1293G>T (p.Leu431=)
c.1302G>T (p.Leu434=)
c.1395G>T (p.Leu465=)
c.123G>T
c.922+1866G>T (n.922+1866G>T)
c.1290G>T (p.Leu430=)
19g.41424564C>ACA406015605BCKDHAc.1294C>A (p.Gln432Lys)
c.1303C>A (p.Gln435Lys)
c.1396C>A (p.Gln466Lys)
c.124C>A
c.922+1867C>A (n.922+1867C>A)
c.1291C>A (p.Gln431Lys)
19g.41424564C>GCA406015603BCKDHAc.1294C>G (p.Gln432Glu)
c.1303C>G (p.Gln435Glu)
c.1396C>G (p.Gln466Glu)
c.124C>G
c.922+1867C>G (n.922+1867C>G)
c.1291C>G (p.Gln431Glu)
19g.41424564C>TCA406015604BCKDHAc.1294C>T (p.Gln432Ter)
c.1303C>T (p.Gln435Ter)
c.1396C>T (p.Gln466Ter)
c.124C>T
c.922+1867C>T (n.922+1867C>T)
c.1291C>T (p.Gln431Ter)
19g.41424565A>CCA406015607BCKDHAc.1295A>C (p.Gln432Pro)
c.1304A>C (p.Gln435Pro)
c.1397A>C (p.Gln466Pro)
c.125A>C
c.922+1868A>C (n.922+1868A>C)
c.1292A>C (p.Gln431Pro)
19g.41424565A>GCA406015608BCKDHAc.1295A>G (p.Gln432Arg)
c.1304A>G (p.Gln435Arg)
c.1397A>G (p.Gln466Arg)
c.125A>G
c.922+1868A>G (n.922+1868A>G)
c.1292A>G (p.Gln431Arg)
19g.41424565A>TCA406015609BCKDHAc.1295A>T (p.Gln432Leu)
c.1304A>T (p.Gln435Leu)
c.1397A>T (p.Gln466Leu)
c.125A>T
c.922+1868A>T (n.922+1868A>T)
c.1292A>T (p.Gln431Leu)
19g.41424566G>ACA507560726BCKDHAc.1296G>A (p.Gln432=)
c.1305G>A (p.Gln435=)
c.1398G>A (p.Gln466=)
c.126G>A
c.922+1869G>A (n.922+1869G>A)
c.1293G>A (p.Gln431=)
19g.41424566G>CCA406015611BCKDHAc.1296G>C (p.Gln432His)
c.1305G>C (p.Gln435His)
c.1398G>C (p.Gln466His)
c.126G>C
c.922+1869G>C (n.922+1869G>C)
c.1293G>C (p.Gln431His)
 ClinVar gnomAD v4
19g.41424566G>TCA406015613BCKDHAc.1296G>T (p.Gln432His)
c.1305G>T (p.Gln435His)
c.1398G>T (p.Gln466His)
c.126G>T
c.922+1869G>T (n.922+1869G>T)
c.1293G>T (p.Gln431His)
19g.41424567A>CCA406015617BCKDHAc.1297A>C (p.Thr433Pro)
c.1306A>C (p.Thr436Pro)
c.1399A>C (p.Thr467Pro)
c.127A>C
c.922+1870A>C (n.922+1870A>C)
c.1294A>C (p.Thr432Pro)
19g.41424567A>GCA406015615BCKDHAc.1297A>G (p.Thr433Ala)
c.1306A>G (p.Thr436Ala)
c.1399A>G (p.Thr467Ala)
c.127A>G
c.922+1870A>G (n.922+1870A>G)
c.1294A>G (p.Thr432Ala)
19g.41424567A>TCA406015616BCKDHAc.1297A>T (p.Thr433Ser)
c.1306A>T (p.Thr436Ser)
c.1399A>T (p.Thr467Ser)
c.127A>T
c.922+1870A>T (n.922+1870A>T)
c.1294A>T (p.Thr432Ser)
19g.41424568C>ACA406015618BCKDHAc.1298C>A (p.Thr433Asn)
c.1307C>A (p.Thr436Asn)
c.1400C>A (p.Thr467Asn)
c.128C>A
c.922+1871C>A (n.922+1871C>A)
c.1295C>A (p.Thr432Asn)
19g.41424568C>GCA406015621BCKDHAc.1298C>G (p.Thr433Ser)
c.1307C>G (p.Thr436Ser)
c.1400C>G (p.Thr467Ser)
c.128C>G
c.922+1871C>G (n.922+1871C>G)
c.1295C>G (p.Thr432Ser)
19g.41424568C>TCA406015623BCKDHAc.1298C>T (p.Thr433Ile)
c.1307C>T (p.Thr436Ile)
c.1400C>T (p.Thr467Ile)
c.128C>T
c.922+1871C>T (n.922+1871C>T)
c.1295C>T (p.Thr432Ile)
 gnomAD v4
19g.41424569C>ACA507560728BCKDHAc.1299C>A (p.Thr433=)
c.1308C>A (p.Thr436=)
c.1401C>A (p.Thr467=)
c.129C>A
c.922+1872C>A (n.922+1872C>A)
c.1296C>A (p.Thr432=)
19g.41424569C>GCA507560729BCKDHAc.1299C>G (p.Thr433=)
c.1308C>G (p.Thr436=)
c.1401C>G (p.Thr467=)
c.129C>G
c.922+1872C>G (n.922+1872C>G)
c.1296C>G (p.Thr432=)
19g.41424569C>TCA507560730BCKDHAc.1299C>T (p.Thr433=)
c.1308C>T (p.Thr436=)
c.1401C>T (p.Thr467=)
c.129C>T
c.922+1872C>T (n.922+1872C>T)
c.1296C>T (p.Thr432=)
19g.41424570T>ACA406015624BCKDHAc.1300T>A (p.Tyr434Asn)
c.1309T>A (p.Tyr437Asn)
c.1402T>A (p.Tyr468Asn)
c.130T>A
c.922+1873T>A (n.922+1873T>A)
c.1297T>A (p.Tyr433Asn)
19g.41424570T>CCA406015625BCKDHAc.1300T>C (p.Tyr434His)
c.1309T>C (p.Tyr437His)
c.1402T>C (p.Tyr468His)
c.130T>C
c.922+1873T>C (n.922+1873T>C)
c.1297T>C (p.Tyr433His)
19g.41424570T>GCA406015626BCKDHAc.1300T>G (p.Tyr434Asp)
c.1309T>G (p.Tyr437Asp)
c.1402T>G (p.Tyr468Asp)
c.130T>G
c.922+1873T>G (n.922+1873T>G)
c.1297T>G (p.Tyr433Asp)
19g.41424571A>CCA406015629BCKDHAc.1301A>C (p.Tyr434Ser)
c.1310A>C (p.Tyr437Ser)
c.1403A>C (p.Tyr468Ser)
c.131A>C
c.922+1874A>C (n.922+1874A>C)
c.1298A>C (p.Tyr433Ser)
19g.41424571A>GCA406015630BCKDHAc.1301A>G (p.Tyr434Cys)
c.1310A>G (p.Tyr437Cys)
c.1403A>G (p.Tyr468Cys)
c.131A>G
c.922+1874A>G (n.922+1874A>G)
c.1298A>G (p.Tyr433Cys)
19g.41424571A>TCA406015631BCKDHAc.1301A>T (p.Tyr434Phe)
c.1310A>T (p.Tyr437Phe)
c.1403A>T (p.Tyr468Phe)
c.131A>T
c.922+1874A>T (n.922+1874A>T)
c.1298A>T (p.Tyr433Phe)
19g.41424572C>ACA221184BCKDHAc.1302C>A (p.Tyr434Ter)
c.1311C>A (p.Tyr437Ter)
c.1404C>A (p.Tyr468Ter)
c.132C>A
c.922+1875C>A (n.922+1875C>A)
c.1299C>A (p.Tyr433Ter)
 ClinVar dbSNP
19g.41424572C=CA2336460075BCKDHAc.1302C= (p.Tyr434=)
c.1311C= (p.Tyr437=)
c.1404C= (p.Tyr468=)
c.132C=
c.922+1875C= (n.922+1875C=)
c.1299C= (p.Tyr433=)
19g.41424572C>GCA406015634BCKDHAc.1302C>G (p.Tyr434Ter)
c.1311C>G (p.Tyr437Ter)
c.1404C>G (p.Tyr468Ter)
c.132C>G
c.922+1875C>G (n.922+1875C>G)
c.1299C>G (p.Tyr433Ter)
19g.41424572C>TCA9461423BCKDHAc.1302C>T (p.Tyr434=)
c.1311C>T (p.Tyr437=)
c.1404C>T (p.Tyr468=)
c.132C>T
c.922+1875C>T (n.922+1875C>T)
c.1299C>T (p.Tyr433=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424573G>ACA308528132BCKDHAc.1303G>A (p.Gly435Arg)
c.1312G>A (p.Gly438Arg)
c.1405G>A (p.Gly469Arg)
c.133G>A
c.922+1876G>A (n.922+1876G>A)
c.1300G>A (p.Gly434Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424573G>CCA9461424BCKDHAc.1303G>C (p.Gly435Arg)
c.1312G>C (p.Gly438Arg)
c.1405G>C (p.Gly469Arg)
c.133G>C
c.922+1876G>C (n.922+1876G>C)
c.1300G>C (p.Gly434Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424573G=CA2336460076BCKDHAc.1303G= (p.Gly435=)
c.1312G= (p.Gly438=)
c.1405G= (p.Gly469=)
c.133G=
c.922+1876G= (n.922+1876G=)
c.1300G= (p.Gly434=)
19g.41424573G>TCA406015638BCKDHAc.1303G>T (p.Gly435Trp)
c.1312G>T (p.Gly438Trp)
c.1405G>T (p.Gly469Trp)
c.133G>T
c.922+1876G>T (n.922+1876G>T)
c.1300G>T (p.Gly434Trp)
19g.41424574G>ACA406015640BCKDHAc.1304G>A (p.Gly435Glu)
c.1313G>A (p.Gly438Glu)
c.1406G>A (p.Gly469Glu)
c.134G>A
c.922+1877G>A (n.922+1877G>A)
c.1301G>A (p.Gly434Glu)
19g.41424574G>CCA406015643BCKDHAc.1304G>C (p.Gly435Ala)
c.1313G>C (p.Gly438Ala)
c.1406G>C (p.Gly469Ala)
c.134G>C
c.922+1877G>C (n.922+1877G>C)
c.1301G>C (p.Gly434Ala)
19g.41424574G>TCA406015644BCKDHAc.1304G>T (p.Gly435Val)
c.1313G>T (p.Gly438Val)
c.1406G>T (p.Gly469Val)
c.134G>T
c.922+1877G>T (n.922+1877G>T)
c.1301G>T (p.Gly434Val)
19g.41424575G>ACA507560732BCKDHAc.1305G>A (p.Gly435=)
c.1314G>A (p.Gly438=)
c.1407G>A (p.Gly469=)
c.135G>A
c.922+1878G>A (n.922+1878G>A)
c.1302G>A (p.Gly434=)
19g.41424575G>CCA507560733BCKDHAc.1305G>C (p.Gly435=)
c.1314G>C (p.Gly438=)
c.1407G>C (p.Gly469=)
c.135G>C
c.922+1878G>C (n.922+1878G>C)
c.1302G>C (p.Gly434=)
19g.41424575G>TCA507560734BCKDHAc.1305G>T (p.Gly435=)
c.1314G>T (p.Gly438=)
c.1407G>T (p.Gly469=)
c.135G>T
c.922+1878G>T (n.922+1878G>T)
c.1302G>T (p.Gly434=)
19g.41424576G>ACA406015645BCKDHAc.1306G>A (p.Glu436Lys)
c.1315G>A (p.Glu439Lys)
c.1408G>A (p.Glu470Lys)
c.136G>A
c.922+1879G>A (n.922+1879G>A)
c.1303G>A (p.Glu435Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.41424576G>CCA406015646BCKDHAc.1306G>C (p.Glu436Gln)
c.1315G>C (p.Glu439Gln)
c.1408G>C (p.Glu470Gln)
c.136G>C
c.922+1879G>C (n.922+1879G>C)
c.1303G>C (p.Glu435Gln)
19g.41424576G=CA2336460077BCKDHAc.1306G= (p.Glu436=)
c.1315G= (p.Glu439=)
c.1408G= (p.Glu470=)
c.136G=
c.922+1879G= (n.922+1879G=)
c.1303G= (p.Glu435=)
19g.41424576G>TCA406015648BCKDHAc.1306G>T (p.Glu436Ter)
c.1315G>T (p.Glu439Ter)
c.1408G>T (p.Glu470Ter)
c.136G>T
c.922+1879G>T (n.922+1879G>T)
c.1303G>T (p.Glu435Ter)
 ClinVar dbSNP
19g.41424577A>CCA406015650BCKDHAc.1307A>C (p.Glu436Ala)
c.1316A>C (p.Glu439Ala)
c.1409A>C (p.Glu470Ala)
c.137A>C
c.922+1880A>C (n.922+1880A>C)
c.1304A>C (p.Glu435Ala)
19g.41424577A>GCA406015653BCKDHAc.1307A>G (p.Glu436Gly)
c.1316A>G (p.Glu439Gly)
c.1409A>G (p.Glu470Gly)
c.137A>G
c.922+1880A>G (n.922+1880A>G)
c.1304A>G (p.Glu435Gly)
19g.41424577A>TCA406015656BCKDHAc.1307A>T (p.Glu436Val)
c.1316A>T (p.Glu439Val)
c.1409A>T (p.Glu470Val)
c.137A>T
c.922+1880A>T (n.922+1880A>T)
c.1304A>T (p.Glu435Val)
19g.41424578G>ACA507560735BCKDHAc.1308G>A (p.Glu436=)
c.1317G>A (p.Glu439=)
c.1410G>A (p.Glu470=)
c.138G>A
c.922+1881G>A (n.922+1881G>A)
c.1305G>A (p.Glu435=)
 ClinVar dbSNP gnomAD v4
19g.41424578G>CCA406015659BCKDHAc.1308G>C (p.Glu436Asp)
c.1317G>C (p.Glu439Asp)
c.1410G>C (p.Glu470Asp)
c.138G>C
c.922+1881G>C (n.922+1881G>C)
c.1305G>C (p.Glu435Asp)
19g.41424578G=CA2336460078BCKDHAc.1308G= (p.Glu436=)
c.1317G= (p.Glu439=)
c.1410G= (p.Glu470=)
c.138G=
c.922+1881G= (n.922+1881G=)
c.1305G= (p.Glu435=)
19g.41424578G>TCA9461425BCKDHAc.1308G>T (p.Glu436Asp)
c.1317G>T (p.Glu439Asp)
c.1410G>T (p.Glu470Asp)
c.138G>T
c.922+1881G>T (n.922+1881G>T)
c.1305G>T (p.Glu435Asp)
 dbSNP ExAC gnomAD v2
19g.41424578_41424580delinsGCACA2336460080BCKDHAc.1308_1310delinsGCA (p.Glu436=)
c.1317_1319delinsGCA (p.Glu439=)
c.1410_1412delinsGCA (p.Glu470=)
c.138_140delinsGCA
c.922+1881_922+1883delinsGCA (n.922+1881_922+1883delinsGCA)
c.1305_1307delinsGCA (p.Glu435=)
19g.41424578_41424585delinsGCACTACCCA2336460079BCKDHAc.1308_1315delinsGCACTACC (p.Glu436=)
c.1317_1324delinsGCACTACC (p.Glu439=)
c.1410_1417delinsGCACTACC (p.Glu470=)
c.138_145delinsGCACTACC
c.922+1881_922+1888delinsGCACTACC (n.922+1881_922+1888delinsGCACTACC)
c.1305_1312delinsGCACTACC (p.Glu435=)
19g.41424579C>ACA406015673BCKDHAc.1309C>A (p.His437Asn)
c.1318C>A (p.His440Asn)
c.1411C>A (p.His471Asn)
c.139C>A
c.922+1882C>A (n.922+1882C>A)
c.1306C>A (p.His436Asn)
19g.41424579C>GCA406015671BCKDHAc.1309C>G (p.His437Asp)
c.1318C>G (p.His440Asp)
c.1411C>G (p.His471Asp)
c.139C>G
c.922+1882C>G (n.922+1882C>G)
c.1306C>G (p.His436Asp)
19g.41424579C>TCA406015666BCKDHAc.1309C>T (p.His437Tyr)
c.1318C>T (p.His440Tyr)
c.1411C>T (p.His471Tyr)
c.139C>T
c.922+1882C>T (n.922+1882C>T)
c.1306C>T (p.His436Tyr)
19g.41424580_41424581delCA221186BCKDHAc.1310_1311del (p.His437LeufsTer8)
c.1319_1320del (p.His440LeufsTer8)
c.1412_1413del (p.His471LeufsTer8)
c.140_141del
c.922+1883_922+1884del (n.922+1883_922+1884del)
c.1307_1308del (p.His436LeufsTer8)
 ClinVar dbSNP gnomAD v2
19g.41424583_41424589delCA1139666462BCKDHAc.1313_1319del (p.Tyr438TrpfsTer?)
c.1322_1328del (p.Tyr441TrpfsTer?)
c.1415_1421del (p.Tyr472TrpfsTer?)
c.143_149del
c.922+1886_922+1892del (n.922+1886_922+1892del)
c.1310_1316del (p.Tyr437TrpfsTer?)
 ClinVar dbSNP gnomAD v4
19g.41424580A=CA2336460081BCKDHAc.1310A= (p.His437=)
c.1319A= (p.His440=)
c.1412A= (p.His471=)
c.140A=
c.922+1883A= (n.922+1883A=)
c.1307A= (p.His436=)
19g.41424580A>CCA406015676BCKDHAc.1310A>C (p.His437Pro)
c.1319A>C (p.His440Pro)
c.1412A>C (p.His471Pro)
c.140A>C
c.922+1883A>C (n.922+1883A>C)
c.1307A>C (p.His436Pro)
19g.41424580A>GCA9461426BCKDHAc.1310A>G (p.His437Arg)
c.1319A>G (p.His440Arg)
c.1412A>G (p.His471Arg)
c.140A>G
c.922+1883A>G (n.922+1883A>G)
c.1307A>G (p.His436Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424580A>TCA406015677BCKDHAc.1310A>T (p.His437Leu)
c.1319A>T (p.His440Leu)
c.1412A>T (p.His471Leu)
c.140A>T
c.922+1883A>T (n.922+1883A>T)
c.1307A>T (p.His436Leu)
19g.41424581C>ACA406015679BCKDHAc.1311C>A (p.His437Gln)
c.1320C>A (p.His440Gln)
c.1413C>A (p.His471Gln)
c.141C>A
c.922+1884C>A (n.922+1884C>A)
c.1308C>A (p.His436Gln)
19g.41424581C=CA2336460082BCKDHAc.1311C= (p.His437=)
c.1320C= (p.His440=)
c.1413C= (p.His471=)
c.141C=
c.922+1884C= (n.922+1884C=)
c.1308C= (p.His436=)
19g.41424581C>GCA406015680BCKDHAc.1311C>G (p.His437Gln)
c.1320C>G (p.His440Gln)
c.1413C>G (p.His471Gln)
c.141C>G
c.922+1884C>G (n.922+1884C>G)
c.1308C>G (p.His436Gln)
 dbSNP gnomAD v4
19g.41424581C>TCA9461427BCKDHAc.1311C>T (p.His437=)
c.1320C>T (p.His440=)
c.1413C>T (p.His471=)
c.141C>T
c.922+1884C>T (n.922+1884C>T)
c.1308C>T (p.His436=)
 ClinVar dbSNP ExAC gnomAD v2
19g.41424582T>ACA115507BCKDHAc.1312T>A (p.Tyr438Asn)
c.1321T>A (p.Tyr441Asn)
c.1414T>A (p.Tyr472Asn)
c.142T>A
c.922+1885T>A (n.922+1885T>A)
c.1309T>A (p.Tyr437Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424582T>CCA406015686BCKDHAc.1312T>C (p.Tyr438His)
c.1321T>C (p.Tyr441His)
c.1414T>C (p.Tyr472His)
c.142T>C
c.922+1885T>C (n.922+1885T>C)
c.1309T>C (p.Tyr437His)
 ClinVar dbSNP
19g.41424582T>GCA406015689BCKDHAc.1312T>G (p.Tyr438Asp)
c.1321T>G (p.Tyr441Asp)
c.1414T>G (p.Tyr472Asp)
c.142T>G
c.922+1885T>G (n.922+1885T>G)
c.1309T>G (p.Tyr437Asp)
19g.41424582T=CA2336460083BCKDHAc.1312T= (p.Tyr438=)
c.1321T= (p.Tyr441=)
c.1414T= (p.Tyr472=)
c.142T=
c.922+1885T= (n.922+1885T=)
c.1309T= (p.Tyr437=)
19g.41424583A>CCA406015692BCKDHAc.1313A>C (p.Tyr438Ser)
c.1322A>C (p.Tyr441Ser)
c.1415A>C (p.Tyr472Ser)
c.143A>C
c.922+1886A>C (n.922+1886A>C)
c.1310A>C (p.Tyr437Ser)
19g.41424583A>GCA406015694BCKDHAc.1313A>G (p.Tyr438Cys)
c.1322A>G (p.Tyr441Cys)
c.1415A>G (p.Tyr472Cys)
c.143A>G
c.922+1886A>G (n.922+1886A>G)
c.1310A>G (p.Tyr437Cys)
 gnomAD v4
19g.41424583A>TCA406015697BCKDHAc.1313A>T (p.Tyr438Phe)
c.1322A>T (p.Tyr441Phe)
c.1415A>T (p.Tyr472Phe)
c.143A>T
c.922+1886A>T (n.922+1886A>T)
c.1310A>T (p.Tyr437Phe)
19g.41424584C>ACA221187BCKDHAc.1314C>A (p.Tyr438Ter)
c.1323C>A (p.Tyr441Ter)
c.1416C>A (p.Tyr472Ter)
c.144C>A
c.922+1887C>A (n.922+1887C>A)
c.1311C>A (p.Tyr437Ter)
 ClinVar dbSNP
19g.41424584C=CA2336460084BCKDHAc.1314C= (p.Tyr438=)
c.1323C= (p.Tyr441=)
c.1416C= (p.Tyr472=)
c.144C=
c.922+1887C= (n.922+1887C=)
c.1311C= (p.Tyr437=)
19g.41424584C>GCA406015701BCKDHAc.1314C>G (p.Tyr438Ter)
c.1323C>G (p.Tyr441Ter)
c.1416C>G (p.Tyr472Ter)
c.144C>G
c.922+1887C>G (n.922+1887C>G)
c.1311C>G (p.Tyr437Ter)
19g.41424584C>TCA507560737BCKDHAc.1314C>T (p.Tyr438=)
c.1323C>T (p.Tyr441=)
c.1416C>T (p.Tyr472=)
c.144C>T
c.922+1887C>T (n.922+1887C>T)
c.1311C>T (p.Tyr437=)
 ClinVar dbSNP gnomAD v4
19g.41424585C>ACA406015711BCKDHAc.1315C>A (p.Pro439Thr)
c.1324C>A (p.Pro442Thr)
c.1417C>A (p.Pro473Thr)
c.145C>A
c.922+1888C>A (n.922+1888C>A)
c.1312C>A (p.Pro438Thr)
19g.41424585C=CA2336460085BCKDHAc.1315C= (p.Pro439=)
c.1324C= (p.Pro442=)
c.1417C= (p.Pro473=)
c.145C=
c.922+1888C= (n.922+1888C=)
c.1312C= (p.Pro438=)
19g.41424585C>GCA9461428BCKDHAc.1315C>G (p.Pro439Ala)
c.1324C>G (p.Pro442Ala)
c.1417C>G (p.Pro473Ala)
c.145C>G
c.922+1888C>G (n.922+1888C>G)
c.1312C>G (p.Pro438Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.41424585C>TCA406015713BCKDHAc.1315C>T (p.Pro439Ser)
c.1324C>T (p.Pro442Ser)
c.1417C>T (p.Pro473Ser)
c.145C>T
c.922+1888C>T (n.922+1888C>T)
c.1312C>T (p.Pro438Ser)
19g.41424586C>ACA406015719BCKDHAc.1316C>A (p.Pro439Gln)
c.1325C>A (p.Pro442Gln)
c.1418C>A (p.Pro473Gln)
c.146C>A
c.922+1889C>A (n.922+1889C>A)
c.1313C>A (p.Pro438Gln)
19g.41424586C=CA2336460086BCKDHAc.1316C= (p.Pro439=)
c.1325C= (p.Pro442=)
c.1418C= (p.Pro473=)
c.146C=
c.922+1889C= (n.922+1889C=)
c.1313C= (p.Pro438=)
19g.41424586C>GCA406015722BCKDHAc.1316C>G (p.Pro439Arg)
c.1325C>G (p.Pro442Arg)
c.1418C>G (p.Pro473Arg)
c.146C>G
c.922+1889C>G (n.922+1889C>G)
c.1313C>G (p.Pro438Arg)
19g.41424586C>TCA308528208BCKDHAc.1316C>T (p.Pro439Leu)
c.1325C>T (p.Pro442Leu)
c.1418C>T (p.Pro473Leu)
c.146C>T
c.922+1889C>T (n.922+1889C>T)
c.1313C>T (p.Pro438Leu)
 dbSNP
19g.41424587A=CA2336460087BCKDHAc.1317A= (p.Pro439=)
c.1326A= (p.Pro442=)
c.1419A= (p.Pro473=)
c.147A=
c.922+1890A= (n.922+1890A=)
c.1314A= (p.Pro438=)
19g.41424587A>CCA507560738BCKDHAc.1317A>C (p.Pro439=)
c.1326A>C (p.Pro442=)
c.1419A>C (p.Pro473=)
c.147A>C
c.922+1890A>C (n.922+1890A>C)
c.1314A>C (p.Pro438=)
 ClinVar dbSNP
19g.41424587A>GCA9461429BCKDHAc.1317A>G (p.Pro439=)
c.1326A>G (p.Pro442=)
c.1419A>G (p.Pro473=)
c.147A>G
c.922+1890A>G (n.922+1890A>G)
c.1314A>G (p.Pro438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424587A>TCA507560739BCKDHAc.1317A>T (p.Pro439=)
c.1326A>T (p.Pro442=)
c.1419A>T (p.Pro473=)
c.147A>T
c.922+1890A>T (n.922+1890A>T)
c.1314A>T (p.Pro438=)
19g.41424588C>ACA406015733BCKDHAc.1318C>A (p.Leu440Met)
c.1327C>A (p.Leu443Met)
c.1420C>A (p.Leu474Met)
c.148C>A
c.922+1891C>A (n.922+1891C>A)
c.1315C>A (p.Leu439Met)
19g.41424588C=CA2336460088BCKDHAc.1318C= (p.Leu440=)
c.1327C= (p.Leu443=)
c.1420C= (p.Leu474=)
c.148C=
c.922+1891C= (n.922+1891C=)
c.1315C= (p.Leu439=)
19g.41424588C>GCA406015736BCKDHAc.1318C>G (p.Leu440Val)
c.1327C>G (p.Leu443Val)
c.1420C>G (p.Leu474Val)
c.148C>G
c.922+1891C>G (n.922+1891C>G)
c.1315C>G (p.Leu439Val)
 gnomAD v4
19g.41424588C>TCA507560740BCKDHAc.1318C>T (p.Leu440=)
c.1327C>T (p.Leu443=)
c.1420C>T (p.Leu474=)
c.148C>T
c.922+1891C>T (n.922+1891C>T)
c.1315C>T (p.Leu439=)
 dbSNP gnomAD v2 gnomAD v4
19g.41424589T>ACA406015740BCKDHAc.1319T>A (p.Leu440Gln)
c.1328T>A (p.Leu443Gln)
c.1421T>A (p.Leu474Gln)
c.149T>A
c.922+1892T>A (n.922+1892T>A)
c.1316T>A (p.Leu439Gln)
19g.41424589T>CCA406015742BCKDHAc.1319T>C (p.Leu440Pro)
c.1328T>C (p.Leu443Pro)
c.1421T>C (p.Leu474Pro)
c.149T>C
c.922+1892T>C (n.922+1892T>C)
c.1316T>C (p.Leu439Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.41424589T>GCA406015744BCKDHAc.1319T>G (p.Leu440Arg)
c.1328T>G (p.Leu443Arg)
c.1421T>G (p.Leu474Arg)
c.149T>G
c.922+1892T>G (n.922+1892T>G)
c.1316T>G (p.Leu439Arg)
19g.41424589T=CA2336460089BCKDHAc.1319T= (p.Leu440=)
c.1328T= (p.Leu443=)
c.1421T= (p.Leu474=)
c.149T=
c.922+1892T= (n.922+1892T=)
c.1316T= (p.Leu439=)
19g.41424590G>ACA9461430BCKDHAc.1320G>A (p.Leu440=)
c.1329G>A (p.Leu443=)
c.1422G>A (p.Leu474=)
c.150G>A
c.922+1893G>A (n.922+1893G>A)
c.1317G>A (p.Leu439=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424590G>CCA507560742BCKDHAc.1320G>C (p.Leu440=)
c.1329G>C (p.Leu443=)
c.1422G>C (p.Leu474=)
c.150G>C
c.922+1893G>C (n.922+1893G>C)
c.1317G>C (p.Leu439=)
19g.41424590G=CA2336460090BCKDHAc.1320G= (p.Leu440=)
c.1329G= (p.Leu443=)
c.1422G= (p.Leu474=)
c.150G=
c.922+1893G= (n.922+1893G=)
c.1317G= (p.Leu439=)
19g.41424590G>TCA507560741BCKDHAc.1320G>T (p.Leu440=)
c.1329G>T (p.Leu443=)
c.1422G>T (p.Leu474=)
c.150G>T
c.922+1893G>T (n.922+1893G>T)
c.1317G>T (p.Leu439=)
19g.41424591G>ACA406015748BCKDHAc.1321G>A (p.Asp441Asn)
c.1330G>A (p.Asp444Asn)
c.1423G>A (p.Asp475Asn)
c.151G>A
c.922+1894G>A (n.922+1894G>A)
c.1318G>A (p.Asp440Asn)
 gnomAD v4
19g.41424591G>CCA406015751BCKDHAc.1321G>C (p.Asp441His)
c.1330G>C (p.Asp444His)
c.1423G>C (p.Asp475His)
c.151G>C
c.922+1894G>C (n.922+1894G>C)
c.1318G>C (p.Asp440His)
19g.41424591G>TCA406015755BCKDHAc.1321G>T (p.Asp441Tyr)
c.1330G>T (p.Asp444Tyr)
c.1423G>T (p.Asp475Tyr)
c.151G>T
c.922+1894G>T (n.922+1894G>T)
c.1318G>T (p.Asp440Tyr)
19g.41424592A>CCA406015759BCKDHAc.1322A>C (p.Asp441Ala)
c.1331A>C (p.Asp444Ala)
c.1424A>C (p.Asp475Ala)
c.152A>C
c.922+1895A>C (n.922+1895A>C)
c.1319A>C (p.Asp440Ala)
19g.41424592A>GCA406015763BCKDHAc.1322A>G (p.Asp441Gly)
c.1331A>G (p.Asp444Gly)
c.1424A>G (p.Asp475Gly)
c.152A>G
c.922+1895A>G (n.922+1895A>G)
c.1319A>G (p.Asp440Gly)
19g.41424592A>TCA406015762BCKDHAc.1322A>T (p.Asp441Val)
c.1331A>T (p.Asp444Val)
c.1424A>T (p.Asp475Val)
c.152A>T
c.922+1895A>T (n.922+1895A>T)
c.1319A>T (p.Asp440Val)
19g.41424593T>ACA406015769BCKDHAc.1323T>A (p.Asp441Glu)
c.1332T>A (p.Asp444Glu)
c.1425T>A (p.Asp475Glu)
c.153T>A
c.922+1896T>A (n.922+1896T>A)
c.1320T>A (p.Asp440Glu)
19g.41424593T>CCA507560743BCKDHAc.1323T>C (p.Asp441=)
c.1332T>C (p.Asp444=)
c.1425T>C (p.Asp475=)
c.153T>C
c.922+1896T>C (n.922+1896T>C)
c.1320T>C (p.Asp440=)
19g.41424593T>GCA406015771BCKDHAc.1323T>G (p.Asp441Glu)
c.1332T>G (p.Asp444Glu)
c.1425T>G (p.Asp475Glu)
c.153T>G
c.922+1896T>G (n.922+1896T>G)
c.1320T>G (p.Asp440Glu)
19g.41424594C>ACA406015773BCKDHAc.1324C>A (p.His442Asn)
c.1333C>A (p.His445Asn)
c.1426C>A (p.His476Asn)
c.154C>A
c.922+1897C>A (n.922+1897C>A)
c.1321C>A (p.His441Asn)
 gnomAD v4
19g.41424594C=CA2336460091BCKDHAc.1324C= (p.His442=)
c.1333C= (p.His445=)
c.1426C= (p.His476=)
c.154C=
c.922+1897C= (n.922+1897C=)
c.1321C= (p.His441=)
19g.41424594C>GCA9461431BCKDHAc.1324C>G (p.His442Asp)
c.1333C>G (p.His445Asp)
c.1426C>G (p.His476Asp)
c.154C>G
c.922+1897C>G (n.922+1897C>G)
c.1321C>G (p.His441Asp)
 dbSNP ExAC gnomAD v2
19g.41424594C>TCA406015777BCKDHAc.1324C>T (p.His442Tyr)
c.1333C>T (p.His445Tyr)
c.1426C>T (p.His476Tyr)
c.154C>T
c.922+1897C>T (n.922+1897C>T)
c.1321C>T (p.His441Tyr)
 dbSNP gnomAD v4
19g.41424595A>CCA406015789BCKDHAc.1325A>C (p.His442Pro)
c.1334A>C (p.His445Pro)
c.1427A>C (p.His476Pro)
c.155A>C
c.922+1898A>C (n.922+1898A>C)
c.1322A>C (p.His441Pro)
19g.41424595A>GCA406015792BCKDHAc.1325A>G (p.His442Arg)
c.1334A>G (p.His445Arg)
c.1427A>G (p.His476Arg)
c.155A>G
c.922+1898A>G (n.922+1898A>G)
c.1322A>G (p.His441Arg)
19g.41424595A>TCA406015795BCKDHAc.1325A>T (p.His442Leu)
c.1334A>T (p.His445Leu)
c.1427A>T (p.His476Leu)
c.155A>T
c.922+1898A>T (n.922+1898A>T)
c.1322A>T (p.His441Leu)
19g.41424596C>ACA406015799BCKDHAc.1326C>A (p.His442Gln)
c.1335C>A (p.His445Gln)
c.1428C>A (p.His476Gln)
c.156C>A
c.922+1899C>A (n.922+1899C>A)
c.1323C>A (p.His441Gln)
19g.41424596C>GCA406015802BCKDHAc.1326C>G (p.His442Gln)
c.1335C>G (p.His445Gln)
c.1428C>G (p.His476Gln)
c.156C>G
c.922+1899C>G (n.922+1899C>G)
c.1323C>G (p.His441Gln)
 gnomAD v4
19g.41424596C>TCA507560744BCKDHAc.1326C>T (p.His442=)
c.1335C>T (p.His445=)
c.1428C>T (p.His476=)
c.156C>T
c.922+1899C>T (n.922+1899C>T)
c.1323C>T (p.His441=)
19g.41424597T>ACA406015807BCKDHAc.1327T>A (p.Phe443Ile)
c.1336T>A (p.Phe446Ile)
c.1429T>A (p.Phe477Ile)
c.157T>A
c.922+1900T>A (n.922+1900T>A)
c.1324T>A (p.Phe442Ile)
19g.41424597T>CCA406015810BCKDHAc.1327T>C (p.Phe443Leu)
c.1336T>C (p.Phe446Leu)
c.1429T>C (p.Phe477Leu)
c.157T>C
c.922+1900T>C (n.922+1900T>C)
c.1324T>C (p.Phe442Leu)
 dbSNP gnomAD v2
19g.41424597T>GCA406015805BCKDHAc.1327T>G (p.Phe443Val)
c.1336T>G (p.Phe446Val)
c.1429T>G (p.Phe477Val)
c.157T>G
c.922+1900T>G (n.922+1900T>G)
c.1324T>G (p.Phe442Val)
 gnomAD v4
19g.41424597T=CA2336460092BCKDHAc.1327T= (p.Phe443=)
c.1336T= (p.Phe446=)
c.1429T= (p.Phe477=)
c.157T=
c.922+1900T= (n.922+1900T=)
c.1324T= (p.Phe442=)
19g.41424598T>ACA406015813BCKDHAc.1328T>A (p.Phe443Tyr)
c.1337T>A (p.Phe446Tyr)
c.1430T>A (p.Phe477Tyr)
c.158T>A
c.922+1901T>A (n.922+1901T>A)
c.1325T>A (p.Phe442Tyr)
19g.41424598T>CCA406015817BCKDHAc.1328T>C (p.Phe443Ser)
c.1337T>C (p.Phe446Ser)
c.1430T>C (p.Phe477Ser)
c.158T>C
c.922+1901T>C (n.922+1901T>C)
c.1325T>C (p.Phe442Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.41424598T>GCA406015821BCKDHAc.1328T>G (p.Phe443Cys)
c.1337T>G (p.Phe446Cys)
c.1430T>G (p.Phe477Cys)
c.158T>G
c.922+1901T>G (n.922+1901T>G)
c.1325T>G (p.Phe442Cys)
19g.41424598T=CA2336460093BCKDHAc.1328T= (p.Phe443=)
c.1337T= (p.Phe446=)
c.1430T= (p.Phe477=)
c.158T=
c.922+1901T= (n.922+1901T=)
c.1325T= (p.Phe442=)
19g.41424599C>ACA406015825BCKDHAc.1329C>A (p.Phe443Leu)
c.1338C>A (p.Phe446Leu)
c.1431C>A (p.Phe477Leu)
c.159C>A
c.922+1902C>A (n.922+1902C>A)
c.1326C>A (p.Phe442Leu)
19g.41424599C=CA2336460094BCKDHAc.1329C= (p.Phe443=)
c.1338C= (p.Phe446=)
c.1431C= (p.Phe477=)
c.159C=
c.922+1902C= (n.922+1902C=)
c.1326C= (p.Phe442=)
19g.41424599C>GCA406015827BCKDHAc.1329C>G (p.Phe443Leu)
c.1338C>G (p.Phe446Leu)
c.1431C>G (p.Phe477Leu)
c.159C>G
c.922+1902C>G (n.922+1902C>G)
c.1326C>G (p.Phe442Leu)
 gnomAD v4
19g.41424599C>TCA9461432BCKDHAc.1329C>T (p.Phe443=)
c.1338C>T (p.Phe446=)
c.1431C>T (p.Phe477=)
c.159C>T
c.922+1902C>T (n.922+1902C>T)
c.1326C>T (p.Phe442=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424600G>ACA9461433BCKDHAc.1330G>A (p.Asp444Asn)
c.1339G>A (p.Asp447Asn)
c.1432G>A (p.Asp478Asn)
c.160G>A
c.922+1903G>A (n.922+1903G>A)
c.1327G>A (p.Asp443Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424600G>CCA406015833BCKDHAc.1330G>C (p.Asp444His)
c.1339G>C (p.Asp447His)
c.1432G>C (p.Asp478His)
c.160G>C
c.922+1903G>C (n.922+1903G>C)
c.1327G>C (p.Asp443His)
 dbSNP gnomAD v2 gnomAD v4
19g.41424600G=CA2336460095BCKDHAc.1330G= (p.Asp444=)
c.1339G= (p.Asp447=)
c.1432G= (p.Asp478=)
c.160G=
c.922+1903G= (n.922+1903G=)
c.1327G= (p.Asp443=)
19g.41424600G>TCA406015837BCKDHAc.1330G>T (p.Asp444Tyr)
c.1339G>T (p.Asp447Tyr)
c.1432G>T (p.Asp478Tyr)
c.160G>T
c.922+1903G>T (n.922+1903G>T)
c.1327G>T (p.Asp443Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424601A=CA2336460096BCKDHAc.1331A= (p.Asp444=)
c.1340A= (p.Asp447=)
c.1433A= (p.Asp478=)
c.161A=
c.922+1904A= (n.922+1904A=)
c.1328A= (p.Asp443=)
19g.41424601A>CCA406015840BCKDHAc.1331A>C (p.Asp444Ala)
c.1340A>C (p.Asp447Ala)
c.1433A>C (p.Asp478Ala)
c.161A>C
c.922+1904A>C (n.922+1904A>C)
c.1328A>C (p.Asp443Ala)
19g.41424601A>GCA9461434BCKDHAc.1331A>G (p.Asp444Gly)
c.1340A>G (p.Asp447Gly)
c.1433A>G (p.Asp478Gly)
c.161A>G
c.922+1904A>G (n.922+1904A>G)
c.1328A>G (p.Asp443Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424601A>TCA406015843BCKDHAc.1331A>T (p.Asp444Val)
c.1340A>T (p.Asp447Val)
c.1433A>T (p.Asp478Val)
c.161A>T
c.922+1904A>T (n.922+1904A>T)
c.1328A>T (p.Asp443Val)
 gnomAD v4
19g.41424602T>ACA406015849BCKDHAc.1332T>A (p.Asp444Glu)
c.1341T>A (p.Asp447Glu)
c.1434T>A (p.Asp478Glu)
c.162T>A
c.922+1905T>A (n.922+1905T>A)
c.1329T>A (p.Asp443Glu)
19g.41424602T>CCA507560746BCKDHAc.1332T>C (p.Asp444=)
c.1341T>C (p.Asp447=)
c.1434T>C (p.Asp478=)
c.162T>C
c.922+1905T>C (n.922+1905T>C)
c.1329T>C (p.Asp443=)
 ClinVar gnomAD v4
19g.41424602T>GCA406015851BCKDHAc.1332T>G (p.Asp444Glu)
c.1341T>G (p.Asp447Glu)
c.1434T>G (p.Asp478Glu)
c.162T>G
c.922+1905T>G (n.922+1905T>G)
c.1329T>G (p.Asp443Glu)
 gnomAD v4
19g.41424603A>CCA406015856BCKDHAc.1333A>C (p.Lys445Gln)
c.1342A>C (p.Lys448Gln)
c.1435A>C (p.Lys479Gln)
c.163A>C
c.922+1906A>C (n.922+1906A>C)
c.1330A>C (p.Lys444Gln)
19g.41424603A>GCA406015862BCKDHAc.1333A>G (p.Lys445Glu)
c.1342A>G (p.Lys448Glu)
c.1435A>G (p.Lys479Glu)
c.163A>G
c.922+1906A>G (n.922+1906A>G)
c.1330A>G (p.Lys444Glu)
19g.41424603A>TCA406015859BCKDHAc.1333A>T (p.Lys445Ter)
c.1342A>T (p.Lys448Ter)
c.1435A>T (p.Lys479Ter)
c.163A>T
c.922+1906A>T (n.922+1906A>T)
c.1330A>T (p.Lys444Ter)
19g.41424604A>CCA406015865BCKDHAc.1334A>C (p.Lys445Thr)
c.1343A>C (p.Lys448Thr)
c.1436A>C (p.Lys479Thr)
c.164A>C
c.922+1907A>C (n.922+1907A>C)
c.1331A>C (p.Lys444Thr)
19g.41424604A>GCA406015867BCKDHAc.1334A>G (p.Lys445Arg)
c.1343A>G (p.Lys448Arg)
c.1436A>G (p.Lys479Arg)
c.164A>G
c.922+1907A>G (n.922+1907A>G)
c.1331A>G (p.Lys444Arg)
 gnomAD v4
19g.41424604A>TCA406015872BCKDHAc.1334A>T (p.Lys445Met)
c.1343A>T (p.Lys448Met)
c.1436A>T (p.Lys479Met)
c.164A>T
c.922+1907A>T (n.922+1907A>T)
c.1331A>T (p.Lys444Met)
19g.41424605G>ACA507560747BCKDHAc.1335G>A (p.Lys445=)
c.1344G>A (p.Lys448=)
c.1437G>A (p.Lys479=)
c.165G>A
c.922+1908G>A (n.922+1908G>A)
c.1332G>A (p.Lys444=)
 ClinVar
19g.41424605G>CCA406015876BCKDHAc.1335G>C (p.Lys445Asn)
c.1344G>C (p.Lys448Asn)
c.1437G>C (p.Lys479Asn)
c.165G>C
c.922+1908G>C (n.922+1908G>C)
c.1332G>C (p.Lys444Asn)
19g.41424605G>TCA406015878BCKDHAc.1335G>T (p.Lys445Asn)
c.1344G>T (p.Lys448Asn)
c.1437G>T (p.Lys479Asn)
c.165G>T
c.922+1908G>T (n.922+1908G>T)
c.1332G>T (p.Lys444Asn)
19g.41424606T>ACA406015882BCKDHAc.1336T>A (p.Ter446Arg)
c.1345T>A (p.Ter449Arg)
c.1438T>A (p.Ter480Arg)
c.166T>A
c.922+1909T>A (n.922+1909T>A)
c.1333T>A (p.Ter445Arg)
19g.41424606T>CCA406015885BCKDHAc.1336T>C (p.Ter446Arg)
c.1345T>C (p.Ter449Arg)
c.1438T>C (p.Ter480Arg)
c.166T>C
c.922+1909T>C (n.922+1909T>C)
c.1333T>C (p.Ter445Arg)
19g.41424606T>GCA406015887BCKDHAc.1336T>G (p.Ter446Gly)
c.1345T>G (p.Ter449Gly)
c.1438T>G (p.Ter480Gly)
c.166T>G
c.922+1909T>G (n.922+1909T>G)
c.1333T>G (p.Ter445Gly)
19g.41424607G>ACA507560748BCKDHAc.1337G>A (p.Ter446=)
c.1346G>A (p.Ter449=)
c.1439G>A (p.Ter480=)
c.167G>A
c.922+1910G>A (n.922+1910G>A)
c.1334G>A (p.Ter445=)
 dbSNP
19g.41424607G>CCA406015889BCKDHAc.1337G>C (p.Ter446Ser)
c.1346G>C (p.Ter449Ser)
c.1439G>C (p.Ter480Ser)
c.167G>C
c.922+1910G>C (n.922+1910G>C)
c.1334G>C (p.Ter445Ser)
19g.41424607G=CA2336460097BCKDHAc.1337G= (p.Ter446=)
c.1346G= (p.Ter449=)
c.1439G= (p.Ter480=)
c.167G=
c.922+1910G= (n.922+1910G=)
c.1334G= (p.Ter445=)
19g.41424607G>TCA406015892BCKDHAc.1337G>T (p.Ter446Leu)
c.1346G>T (p.Ter449Leu)
c.1439G>T (p.Ter480Leu)
c.167G>T
c.922+1910G>T (n.922+1910G>T)
c.1334G>T (p.Ter445Leu)
19g.41424608A>CCA406015897BCKDHAc.1338A>C (p.Ter446Cys)
c.1347A>C (p.Ter449Cys)
c.1440A>C (p.Ter480Cys)
c.168A>C
c.922+1911A>C (n.922+1911A>C)
c.1335A>C (p.Ter445Cys)
19g.41424608A>GCA406015900BCKDHAc.1338A>G (p.Ter446Trp)
c.1347A>G (p.Ter449Trp)
c.1440A>G (p.Ter480Trp)
c.168A>G
c.922+1911A>G (n.922+1911A>G)
c.1335A>G (p.Ter445Trp)
19g.41424608A>TCA406015902BCKDHAc.1338A>T (p.Ter446Cys)
c.1347A>T (p.Ter449Cys)
c.1440A>T (p.Ter480Cys)
c.168A>T
c.922+1911A>T (n.922+1911A>T)
c.1335A>T (p.Ter445Cys)
19g.41424609G>ACA2739614033BCKDHAc.*1G>A (n.*1G>A)
c.169G>A
c.922+1912G>A (n.922+1912G>A)
19g.41424609G>CCA2739614034BCKDHAc.*1G>C (n.*1G>C)
c.169G>C
c.922+1912G>C (n.922+1912G>C)
19g.41424609G>TCA2739614035BCKDHAc.*1G>T (n.*1G>T)
c.169G>T
c.922+1912G>T (n.922+1912G>T)

Number of alleles fetched