Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422237A>C | CA507690476 | BCKDHA | c.720A>C (p.Ala240=) c.654A>C (p.Ala218=) n.349A>C c.822A>C (p.Ala274=) c.620A>C c.633A>C (p.Ala211=) n.348A>C | |
19 | g.41422237A>G | CA507690477 | BCKDHA | c.720A>G (p.Ala240=) c.654A>G (p.Ala218=) n.349A>G c.822A>G (p.Ala274=) c.620A>G c.633A>G (p.Ala211=) n.348A>G | gnomAD v4 |
19 | g.41422237A>T | CA507690479 | BCKDHA | c.720A>T (p.Ala240=) c.654A>T (p.Ala218=) n.349A>T c.822A>T (p.Ala274=) c.620A>T c.633A>T (p.Ala211=) n.348A>T | |
19 | g.41422238G>A | CA9461246 | BCKDHA | c.721G>A (p.Ala241Thr) c.655G>A (p.Ala219Thr) n.350G>A c.823G>A (p.Ala275Thr) c.621G>A c.634G>A (p.Ala212Thr) n.349G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422238G>C | CA406012806 | BCKDHA | c.721G>C (p.Ala241Pro) c.655G>C (p.Ala219Pro) n.350G>C c.823G>C (p.Ala275Pro) c.621G>C c.634G>C (p.Ala212Pro) n.349G>C | |
19 | g.41422238G= | CA2336459016 | BCKDHA | c.721G= (p.Ala241=) c.655G= (p.Ala219=) n.350G= c.823G= (p.Ala275=) c.621G= c.634G= (p.Ala212=) n.349G= | |
19 | g.41422238G>T | CA406012807 | BCKDHA | c.721G>T (p.Ala241Ser) c.655G>T (p.Ala219Ser) n.350G>T c.823G>T (p.Ala275Ser) c.621G>T c.634G>T (p.Ala212Ser) n.349G>T | |
19 | g.41422239C>A | CA406012808 | BCKDHA | c.722C>A (p.Ala241Asp) c.656C>A (p.Ala219Asp) n.351C>A c.824C>A (p.Ala275Asp) c.622C>A c.635C>A (p.Ala212Asp) n.350C>A | |
19 | g.41422239C>G | CA406012809 | BCKDHA | c.722C>G (p.Ala241Gly) c.656C>G (p.Ala219Gly) n.351C>G c.824C>G (p.Ala275Gly) c.622C>G c.635C>G (p.Ala212Gly) n.350C>G | |
19 | g.41422239C>T | CA406012810 | BCKDHA | c.722C>T (p.Ala241Val) c.656C>T (p.Ala219Val) n.351C>T c.824C>T (p.Ala275Val) c.622C>T c.635C>T (p.Ala212Val) n.350C>T | |
19 | g.41422240C>A | CA507690482 | BCKDHA | c.723C>A (p.Ala241=) c.657C>A (p.Ala219=) n.352C>A c.825C>A (p.Ala275=) c.623C>A c.636C>A (p.Ala212=) n.351C>A | |
19 | g.41422240C>G | CA507690483 | BCKDHA | c.723C>G (p.Ala241=) c.657C>G (p.Ala219=) n.352C>G c.825C>G (p.Ala275=) c.623C>G c.636C>G (p.Ala212=) n.351C>G | |
19 | g.41422240C>T | CA507690484 | BCKDHA | c.723C>T (p.Ala241=) c.657C>T (p.Ala219=) n.352C>T c.825C>T (p.Ala275=) c.623C>T c.636C>T (p.Ala212=) n.351C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422241A= | CA2336459017 | BCKDHA | c.724A= (p.Ser242=) c.658A= (p.Ser220=) n.353A= c.826A= (p.Ser276=) c.624A= c.637A= (p.Ser213=) n.352A= | |
19 | g.41422241A>C | CA406012812 | BCKDHA | c.724A>C (p.Ser242Arg) c.658A>C (p.Ser220Arg) n.353A>C c.826A>C (p.Ser276Arg) c.624A>C c.637A>C (p.Ser213Arg) n.352A>C | |
19 | g.41422241A>G | CA9461247 | BCKDHA | c.724A>G (p.Ser242Gly) c.658A>G (p.Ser220Gly) n.353A>G c.826A>G (p.Ser276Gly) c.624A>G c.637A>G (p.Ser213Gly) n.352A>G | dbSNP ExAC gnomAD v2 |
19 | g.41422241A>T | CA406012811 | BCKDHA | c.724A>T (p.Ser242Cys) c.658A>T (p.Ser220Cys) n.353A>T c.826A>T (p.Ser276Cys) c.624A>T c.637A>T (p.Ser213Cys) n.352A>T | |
19 | g.41422242G>A | CA406012813 | BCKDHA | c.725G>A (p.Ser242Asn) c.659G>A (p.Ser220Asn) n.354G>A c.827G>A (p.Ser276Asn) c.625G>A c.638G>A (p.Ser213Asn) n.353G>A | |
19 | g.41422242G>C | CA406012814 | BCKDHA | c.725G>C (p.Ser242Thr) c.659G>C (p.Ser220Thr) n.354G>C c.827G>C (p.Ser276Thr) c.625G>C c.638G>C (p.Ser213Thr) n.353G>C | |
19 | g.41422242G>T | CA406012815 | BCKDHA | c.725G>T (p.Ser242Ile) c.659G>T (p.Ser220Ile) n.354G>T c.827G>T (p.Ser276Ile) c.625G>T c.638G>T (p.Ser213Ile) n.353G>T | |
19 | g.41422243T>A | CA406012816 | BCKDHA | c.726T>A (p.Ser242Arg) c.660T>A (p.Ser220Arg) n.355T>A c.828T>A (p.Ser276Arg) c.626T>A c.639T>A (p.Ser213Arg) n.354T>A | |
19 | g.41422243T>C | CA9461248 | BCKDHA | c.726T>C (p.Ser242=) c.660T>C (p.Ser220=) n.355T>C c.828T>C (p.Ser276=) c.626T>C c.639T>C (p.Ser213=) n.354T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422243T>G | CA406012817 | BCKDHA | c.726T>G (p.Ser242Arg) c.660T>G (p.Ser220Arg) n.355T>G c.828T>G (p.Ser276Arg) c.626T>G c.639T>G (p.Ser213Arg) n.354T>G | |
19 | g.41422243T= | CA2336459018 | BCKDHA | c.726T= (p.Ser242=) c.660T= (p.Ser220=) n.355T= c.828T= (p.Ser276=) c.626T= c.639T= (p.Ser213=) n.354T= | |
19 | g.41422244G>A | CA406012818 | BCKDHA | c.727G>A (p.Glu243Lys) c.661G>A (p.Glu221Lys) n.356G>A c.829G>A (p.Glu277Lys) c.627G>A c.640G>A (p.Glu214Lys) n.355G>A | |
19 | g.41422244G>C | CA406012820 | BCKDHA | c.727G>C (p.Glu243Gln) c.661G>C (p.Glu221Gln) n.356G>C c.829G>C (p.Glu277Gln) c.627G>C c.640G>C (p.Glu214Gln) n.355G>C | |
19 | g.41422244G>T | CA406012819 | BCKDHA | c.727G>T (p.Glu243Ter) c.661G>T (p.Glu221Ter) n.356G>T c.829G>T (p.Glu277Ter) c.627G>T c.640G>T (p.Glu214Ter) n.355G>T | |
19 | g.41422245A= | CA2336459019 | BCKDHA | c.728A= (p.Glu243=) c.662A= (p.Glu221=) n.357A= c.830A= (p.Glu277=) c.628A= c.641A= (p.Glu214=) n.356A= | |
19 | g.41422245A>C | CA406012821 | BCKDHA | c.728A>C (p.Glu243Ala) c.662A>C (p.Glu221Ala) n.357A>C c.830A>C (p.Glu277Ala) c.628A>C c.641A>C (p.Glu214Ala) n.356A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422245A>G | CA406012822 | BCKDHA | c.728A>G (p.Glu243Gly) c.662A>G (p.Glu221Gly) n.357A>G c.830A>G (p.Glu277Gly) c.628A>G c.641A>G (p.Glu214Gly) n.356A>G | |
19 | g.41422245A>T | CA406012823 | BCKDHA | c.728A>T (p.Glu243Val) c.662A>T (p.Glu221Val) n.357A>T c.830A>T (p.Glu277Val) c.628A>T c.641A>T (p.Glu214Val) n.356A>T | |
19 | g.41422246G>A | CA9461249 | BCKDHA | c.729G>A (p.Glu243=) c.663G>A (p.Glu221=) n.358G>A c.831G>A (p.Glu277=) c.629G>A c.642G>A (p.Glu214=) n.357G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422246G>C | CA406012824 | BCKDHA | c.729G>C (p.Glu243Asp) c.663G>C (p.Glu221Asp) n.358G>C c.831G>C (p.Glu277Asp) c.629G>C c.642G>C (p.Glu214Asp) n.357G>C | |
19 | g.41422246G= | CA2336459020 | BCKDHA | c.729G= (p.Glu243=) c.663G= (p.Glu221=) n.358G= c.831G= (p.Glu277=) c.629G= c.642G= (p.Glu214=) n.357G= | |
19 | g.41422246G>T | CA406012825 | BCKDHA | c.729G>T (p.Glu243Asp) c.663G>T (p.Glu221Asp) n.358G>T c.831G>T (p.Glu277Asp) c.629G>T c.642G>T (p.Glu214Asp) n.357G>T | |
19 | g.41422250dup | CA2814427397 | BCKDHA | c.733dup (p.Asp245GlyfsTer13) c.667dup (p.Asp223GlyfsTer13) n.362dup c.835dup (p.Asp279GlyfsTer13) c.646dup (p.Asp216GlyfsTer13) n.361dup | |
19 | g.41422247G>A | CA406012826 | BCKDHA | c.730G>A (p.Gly244Arg) c.664G>A (p.Gly222Arg) n.359G>A c.832G>A (p.Gly278Arg) c.630G>A c.643G>A (p.Gly215Arg) n.358G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422247G>C | CA406012827 | BCKDHA | c.730G>C (p.Gly244Arg) c.664G>C (p.Gly222Arg) n.359G>C c.832G>C (p.Gly278Arg) c.630G>C c.643G>C (p.Gly215Arg) n.358G>C | |
19 | g.41422247G= | CA2336459021 | BCKDHA | c.730G= (p.Gly244=) c.664G= (p.Gly222=) n.359G= c.832G= (p.Gly278=) c.630G= c.643G= (p.Gly215=) n.358G= | |
19 | g.41422247G>T | CA406012828 | BCKDHA | c.730G>T (p.Gly244Trp) c.664G>T (p.Gly222Trp) n.359G>T c.832G>T (p.Gly278Trp) c.630G>T c.643G>T (p.Gly215Trp) n.358G>T | |
19 | g.41422248G>A | CA406012829 | BCKDHA | c.731G>A (p.Gly244Glu) c.665G>A (p.Gly222Glu) n.360G>A c.833G>A (p.Gly278Glu) c.631G>A c.644G>A (p.Gly215Glu) n.359G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422248G>C | CA406012830 | BCKDHA | c.731G>C (p.Gly244Ala) c.665G>C (p.Gly222Ala) n.360G>C c.833G>C (p.Gly278Ala) c.631G>C c.644G>C (p.Gly215Ala) n.359G>C | |
19 | g.41422248G= | CA2336459022 | BCKDHA | c.731G= (p.Gly244=) c.665G= (p.Gly222=) n.360G= c.833G= (p.Gly278=) c.631G= c.644G= (p.Gly215=) n.359G= | |
19 | g.41422248G>T | CA406012831 | BCKDHA | c.731G>T (p.Gly244Val) c.665G>T (p.Gly222Val) n.360G>T c.833G>T (p.Gly278Val) c.631G>T c.644G>T (p.Gly215Val) n.359G>T | ClinVar |
19 | g.41422249G>A | CA507690502 | BCKDHA | c.732G>A (p.Gly244=) c.666G>A (p.Gly222=) n.361G>A c.834G>A (p.Gly278=) c.632G>A c.645G>A (p.Gly215=) n.360G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422249G>C | CA507690500 | BCKDHA | c.732G>C (p.Gly244=) c.666G>C (p.Gly222=) n.361G>C c.834G>C (p.Gly278=) c.632G>C c.645G>C (p.Gly215=) n.360G>C | |
19 | g.41422249G= | CA2336459023 | BCKDHA | c.732G= (p.Gly244=) c.666G= (p.Gly222=) n.361G= c.834G= (p.Gly278=) c.632G= c.645G= (p.Gly215=) n.360G= | |
19 | g.41422249G>T | CA507690501 | BCKDHA | c.732G>T (p.Gly244=) c.666G>T (p.Gly222=) n.361G>T c.834G>T (p.Gly278=) c.632G>T c.645G>T (p.Gly215=) n.360G>T | gnomAD v4 |
19 | g.41422250G>A | CA406012832 | BCKDHA | c.733G>A (p.Asp245Asn) c.667G>A (p.Asp223Asn) n.362G>A c.835G>A (p.Asp279Asn) c.646G>A (p.Asp216Asn) n.361G>A | |
19 | g.41422250G>C | CA406012834 | BCKDHA | c.733G>C (p.Asp245His) c.667G>C (p.Asp223His) n.362G>C c.835G>C (p.Asp279His) c.646G>C (p.Asp216His) n.361G>C | |
19 | g.41422250G>T | CA406012833 | BCKDHA | c.733G>T (p.Asp245Tyr) c.667G>T (p.Asp223Tyr) n.362G>T c.835G>T (p.Asp279Tyr) c.646G>T (p.Asp216Tyr) n.361G>T | |
19 | g.41422251A>C | CA406012835 | BCKDHA | c.734A>C (p.Asp245Ala) c.668A>C (p.Asp223Ala) n.363A>C c.836A>C (p.Asp279Ala) c.647A>C (p.Asp216Ala) n.362A>C | |
19 | g.41422251A>G | CA406012836 | BCKDHA | c.734A>G (p.Asp245Gly) c.668A>G (p.Asp223Gly) n.363A>G c.836A>G (p.Asp279Gly) c.647A>G (p.Asp216Gly) n.362A>G | |
19 | g.41422251A>T | CA406012837 | BCKDHA | c.734A>T (p.Asp245Val) c.668A>T (p.Asp223Val) n.363A>T c.836A>T (p.Asp279Val) c.647A>T (p.Asp216Val) n.362A>T | |
19 | g.41422252C>A | CA406012838 | BCKDHA | c.735C>A (p.Asp245Glu) c.669C>A (p.Asp223Glu) n.364C>A c.837C>A (p.Asp279Glu) c.648C>A (p.Asp216Glu) n.363C>A | |
19 | g.41422252C= | CA2336459024 | BCKDHA | c.735C= (p.Asp245=) c.669C= (p.Asp223=) n.364C= c.837C= (p.Asp279=) c.648C= (p.Asp216=) n.363C= | |
19 | g.41422252C>G | CA406012839 | BCKDHA | c.735C>G (p.Asp245Glu) c.669C>G (p.Asp223Glu) n.364C>G c.837C>G (p.Asp279Glu) c.648C>G (p.Asp216Glu) n.363C>G | |
19 | g.41422252C>T | CA9461250 | BCKDHA | c.735C>T (p.Asp245=) c.669C>T (p.Asp223=) n.364C>T c.837C>T (p.Asp279=) c.648C>T (p.Asp216=) n.363C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422253G>A | CA9461251 | BCKDHA | c.736G>A (p.Ala246Thr) c.670G>A (p.Ala224Thr) n.365G>A c.838G>A (p.Ala280Thr) c.649G>A (p.Ala217Thr) n.364G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422253G>C | CA406012840 | BCKDHA | c.736G>C (p.Ala246Pro) c.670G>C (p.Ala224Pro) n.365G>C c.838G>C (p.Ala280Pro) c.649G>C (p.Ala217Pro) n.364G>C | |
19 | g.41422253G= | CA2336459025 | BCKDHA | c.736G= (p.Ala246=) c.670G= (p.Ala224=) n.365G= c.838G= (p.Ala280=) c.649G= (p.Ala217=) n.364G= | |
19 | g.41422253G>T | CA406012841 | BCKDHA | c.736G>T (p.Ala246Ser) c.670G>T (p.Ala224Ser) n.365G>T c.838G>T (p.Ala280Ser) c.649G>T (p.Ala217Ser) n.364G>T | |
19 | g.41422254C>A | CA406012842 | BCKDHA | c.737C>A (p.Ala246Asp) c.671C>A (p.Ala224Asp) n.366C>A c.839C>A (p.Ala280Asp) c.650C>A (p.Ala217Asp) n.365C>A | |
19 | g.41422254C= | CA2336459026 | BCKDHA | c.737C= (p.Ala246=) c.671C= (p.Ala224=) n.366C= c.839C= (p.Ala280=) c.650C= (p.Ala217=) n.365C= | |
19 | g.41422254C>G | CA406012843 | BCKDHA | c.737C>G (p.Ala246Gly) c.671C>G (p.Ala224Gly) n.366C>G c.839C>G (p.Ala280Gly) c.650C>G (p.Ala217Gly) n.365C>G | dbSNP |
19 | g.41422254C>T | CA406012844 | BCKDHA | c.737C>T (p.Ala246Val) c.671C>T (p.Ala224Val) n.366C>T c.839C>T (p.Ala280Val) c.650C>T (p.Ala217Val) n.365C>T | |
19 | g.41422255C>A | CA507690515 | BCKDHA | c.738C>A (p.Ala246=) c.672C>A (p.Ala224=) n.367C>A c.840C>A (p.Ala280=) c.651C>A (p.Ala217=) n.366C>A | dbSNP |
19 | g.41422255C= | CA2336459027 | BCKDHA | c.738C= (p.Ala246=) c.672C= (p.Ala224=) n.367C= c.840C= (p.Ala280=) c.651C= (p.Ala217=) n.366C= | |
19 | g.41422255C>G | CA507690512 | BCKDHA | c.738C>G (p.Ala246=) c.672C>G (p.Ala224=) n.367C>G c.840C>G (p.Ala280=) c.651C>G (p.Ala217=) n.366C>G | |
19 | g.41422255C>T | CA507690514 | BCKDHA | c.738C>T (p.Ala246=) c.672C>T (p.Ala224=) n.367C>T c.840C>T (p.Ala280=) c.651C>T (p.Ala217=) n.366C>T | |
19 | g.41422256C>A | CA406012846 | BCKDHA | c.739C>A (p.His247Asn) c.673C>A (p.His225Asn) n.368C>A c.841C>A (p.His281Asn) c.652C>A (p.His218Asn) n.367C>A | |
19 | g.41422256C>G | CA406012847 | BCKDHA | c.739C>G (p.His247Asp) c.673C>G (p.His225Asp) n.368C>G c.841C>G (p.His281Asp) c.652C>G (p.His218Asp) n.367C>G | |
19 | g.41422256C>T | CA406012845 | BCKDHA | c.739C>T (p.His247Tyr) c.673C>T (p.His225Tyr) n.368C>T c.841C>T (p.His281Tyr) c.652C>T (p.His218Tyr) n.367C>T | |
19 | g.41422257A= | CA2336459028 | BCKDHA | c.740A= (p.His247=) c.674A= (p.His225=) n.369A= c.842A= (p.His281=) c.653A= (p.His218=) n.368A= | |
19 | g.41422257A>C | CA406012848 | BCKDHA | c.740A>C (p.His247Pro) c.674A>C (p.His225Pro) n.369A>C c.842A>C (p.His281Pro) c.653A>C (p.His218Pro) n.368A>C | |
19 | g.41422257A>G | CA406012849 | BCKDHA | c.740A>G (p.His247Arg) c.674A>G (p.His225Arg) n.369A>G c.842A>G (p.His281Arg) c.653A>G (p.His218Arg) n.368A>G | ClinVar dbSNP gnomAD v4 |
19 | g.41422257A>T | CA406012850 | BCKDHA | c.740A>T (p.His247Leu) c.674A>T (p.His225Leu) n.369A>T c.842A>T (p.His281Leu) c.653A>T (p.His218Leu) n.368A>T | |
19 | g.41422258T>A | CA406012851 | BCKDHA | c.741T>A (p.His247Gln) c.675T>A (p.His225Gln) n.370T>A c.843T>A (p.His281Gln) c.654T>A (p.His218Gln) n.369T>A | dbSNP |
19 | g.41422258T>C | CA507690521 | BCKDHA | c.741T>C (p.His247=) c.675T>C (p.His225=) n.370T>C c.843T>C (p.His281=) c.654T>C (p.His218=) n.369T>C | |
19 | g.41422258T>G | CA406012852 | BCKDHA | c.741T>G (p.His247Gln) c.675T>G (p.His225Gln) n.370T>G c.843T>G (p.His281Gln) c.654T>G (p.His218Gln) n.369T>G | |
19 | g.41422258T= | CA2336459029 | BCKDHA | c.741T= (p.His247=) c.675T= (p.His225=) n.370T= c.843T= (p.His281=) c.654T= (p.His218=) n.369T= | |
19 | g.41422258dup | CA221212 | BCKDHA | c.741dup (p.Ala248CysfsTer10) c.675dup (p.Ala226CysfsTer10) n.370dup c.843dup (p.Ala282CysfsTer10) c.654dup (p.Ala219CysfsTer10) n.369dup | ClinVar dbSNP |
19 | g.41422259G>A | CA406012853 | BCKDHA | c.742G>A (p.Ala248Thr) c.676G>A (p.Ala226Thr) n.371G>A c.844G>A (p.Ala282Thr) c.655G>A (p.Ala219Thr) n.370G>A | |
19 | g.41422259G>C | CA406012855 | BCKDHA | c.742G>C (p.Ala248Pro) c.676G>C (p.Ala226Pro) n.371G>C c.844G>C (p.Ala282Pro) c.655G>C (p.Ala219Pro) n.370G>C | |
19 | g.41422259G>T | CA406012854 | BCKDHA | c.742G>T (p.Ala248Ser) c.676G>T (p.Ala226Ser) n.371G>T c.844G>T (p.Ala282Ser) c.655G>T (p.Ala219Ser) n.370G>T | |
19 | g.41422260C>A | CA406012856 | BCKDHA | c.743C>A (p.Ala248Asp) c.677C>A (p.Ala226Asp) n.372C>A c.845C>A (p.Ala282Asp) c.656C>A (p.Ala219Asp) n.371C>A | |
19 | g.41422260C= | CA2336459030 | BCKDHA | c.743C= (p.Ala248=) c.677C= (p.Ala226=) n.372C= c.845C= (p.Ala282=) c.656C= (p.Ala219=) n.371C= | |
19 | g.41422260C>G | CA406012857 | BCKDHA | c.743C>G (p.Ala248Gly) c.677C>G (p.Ala226Gly) n.372C>G c.845C>G (p.Ala282Gly) c.656C>G (p.Ala219Gly) n.371C>G | |
19 | g.41422260C>T | CA308524255 | BCKDHA | c.743C>T (p.Ala248Val) c.677C>T (p.Ala226Val) n.372C>T c.845C>T (p.Ala282Val) c.656C>T (p.Ala219Val) n.371C>T | ClinVar dbSNP |
19 | g.41422261C>A | CA507690525 | BCKDHA | c.744C>A (p.Ala248=) c.678C>A (p.Ala226=) n.373C>A c.846C>A (p.Ala282=) c.657C>A (p.Ala219=) n.372C>A | dbSNP gnomAD v4 |
19 | g.41422261C= | CA2336459031 | BCKDHA | c.744C= (p.Ala248=) c.678C= (p.Ala226=) n.373C= c.846C= (p.Ala282=) c.657C= (p.Ala219=) n.372C= | |
19 | g.41422261C>G | CA507690527 | BCKDHA | c.744C>G (p.Ala248=) c.678C>G (p.Ala226=) n.373C>G c.846C>G (p.Ala282=) c.657C>G (p.Ala219=) n.372C>G | gnomAD v4 |
19 | g.41422261C>T | CA9461252 | BCKDHA | c.744C>T (p.Ala248=) c.678C>T (p.Ala226=) n.373C>T c.846C>T (p.Ala282=) c.657C>T (p.Ala219=) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422262G>A | CA115515 | BCKDHA | c.745G>A (p.Gly249Ser) c.679G>A (p.Gly227Ser) n.374G>A c.847G>A (p.Gly283Ser) c.658G>A (p.Gly220Ser) n.373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422262G>C | CA406012859 | BCKDHA | c.745G>C (p.Gly249Arg) c.679G>C (p.Gly227Arg) n.374G>C c.847G>C (p.Gly283Arg) c.658G>C (p.Gly220Arg) n.373G>C | |
19 | g.41422262G= | CA2336459032 | BCKDHA | c.745G= (p.Gly249=) c.679G= (p.Gly227=) n.374G= c.847G= (p.Gly283=) c.658G= (p.Gly220=) n.373G= | |
19 | g.41422262G>T | CA406012858 | BCKDHA | c.745G>T (p.Gly249Cys) c.679G>T (p.Gly227Cys) n.374G>T c.847G>T (p.Gly283Cys) c.658G>T (p.Gly220Cys) n.373G>T | ClinVar dbSNP |
19 | g.41422263G>A | CA406012860 | BCKDHA | c.746G>A (p.Gly249Asp) c.680G>A (p.Gly227Asp) n.375G>A c.848G>A (p.Gly283Asp) c.659G>A (p.Gly220Asp) n.374G>A | |
19 | g.41422263G>C | CA312362 | BCKDHA | c.746G>C (p.Gly249Ala) c.680G>C (p.Gly227Ala) n.375G>C c.848G>C (p.Gly283Ala) c.659G>C (p.Gly220Ala) n.374G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422263G= | CA2336459033 | BCKDHA | c.746G= (p.Gly249=) c.680G= (p.Gly227=) n.375G= c.848G= (p.Gly283=) c.659G= (p.Gly220=) n.374G= | |
19 | g.41422263G>T | CA406012861 | BCKDHA | c.746G>T (p.Gly249Val) c.680G>T (p.Gly227Val) n.375G>T c.848G>T (p.Gly283Val) c.659G>T (p.Gly220Val) n.374G>T | ClinVar |
19 | g.41422263_41422264del | CA2695198206 | BCKDHA | c.746_747del (p.Gly249ValfsTer8) c.680_681del (p.Gly227ValfsTer8) n.375_376del c.848_849del (p.Gly283ValfsTer8) c.659_660del (p.Gly220ValfsTer8) n.374_375del | ClinVar |
19 | g.41422264C>A | CA507690530 | BCKDHA | c.747C>A (p.Gly249=) c.681C>A (p.Gly227=) n.376C>A c.849C>A (p.Gly283=) c.660C>A (p.Gly220=) n.375C>A | |
19 | g.41422264C>G | CA507690531 | BCKDHA | c.747C>G (p.Gly249=) c.681C>G (p.Gly227=) n.376C>G c.849C>G (p.Gly283=) c.660C>G (p.Gly220=) n.375C>G | |
19 | g.41422264C>T | CA507690529 | BCKDHA | c.747C>T (p.Gly249=) c.681C>T (p.Gly227=) n.376C>T c.849C>T (p.Gly283=) c.660C>T (p.Gly220=) n.375C>T | |
19 | g.41422265T>A | CA406012862 | BCKDHA | c.748T>A (p.Phe250Ile) c.682T>A (p.Phe228Ile) n.377T>A c.850T>A (p.Phe284Ile) c.661T>A (p.Phe221Ile) n.376T>A | |
19 | g.41422265T>C | CA406012864 | BCKDHA | c.748T>C (p.Phe250Leu) c.682T>C (p.Phe228Leu) n.377T>C c.850T>C (p.Phe284Leu) c.661T>C (p.Phe221Leu) n.376T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422265T>G | CA406012863 | BCKDHA | c.748T>G (p.Phe250Val) c.682T>G (p.Phe228Val) n.377T>G c.850T>G (p.Phe284Val) c.661T>G (p.Phe221Val) n.376T>G | |
19 | g.41422265T= | CA2336459034 | BCKDHA | c.748T= (p.Phe250=) c.682T= (p.Phe228=) n.377T= c.850T= (p.Phe284=) c.661T= (p.Phe221=) n.376T= | |
19 | g.41422266T>A | CA406012865 | BCKDHA | c.749T>A (p.Phe250Tyr) c.683T>A (p.Phe228Tyr) n.378T>A c.851T>A (p.Phe284Tyr) c.662T>A (p.Phe221Tyr) n.377T>A | |
19 | g.41422266T>C | CA406012867 | BCKDHA | c.749T>C (p.Phe250Ser) c.683T>C (p.Phe228Ser) n.378T>C c.851T>C (p.Phe284Ser) c.662T>C (p.Phe221Ser) n.377T>C | |
19 | g.41422266T>G | CA406012866 | BCKDHA | c.749T>G (p.Phe250Cys) c.683T>G (p.Phe228Cys) n.378T>G c.851T>G (p.Phe284Cys) c.662T>G (p.Phe221Cys) n.377T>G | |
19 | g.41422267C>A | CA406012868 | BCKDHA | c.750C>A (p.Phe250Leu) c.684C>A (p.Phe228Leu) n.379C>A c.852C>A (p.Phe284Leu) c.663C>A (p.Phe221Leu) n.378C>A | COSMIC |
19 | g.41422267C>G | CA406012869 | BCKDHA | c.750C>G (p.Phe250Leu) c.684C>G (p.Phe228Leu) n.379C>G c.852C>G (p.Phe284Leu) c.663C>G (p.Phe221Leu) n.378C>G | |
19 | g.41422267C>T | CA507690535 | BCKDHA | c.750C>T (p.Phe250=) c.684C>T (p.Phe228=) n.379C>T c.852C>T (p.Phe284=) c.663C>T (p.Phe221=) n.378C>T | |
19 | g.41422268A>C | CA406012870 | BCKDHA | c.751A>C (p.Asn251His) c.685A>C (p.Asn229His) n.380A>C c.853A>C (p.Asn285His) c.664A>C (p.Asn222His) n.379A>C | |
19 | g.41422268A>G | CA406012871 | BCKDHA | c.751A>G (p.Asn251Asp) c.685A>G (p.Asn229Asp) n.380A>G c.853A>G (p.Asn285Asp) c.664A>G (p.Asn222Asp) n.379A>G | gnomAD v4 |
19 | g.41422268A>T | CA406012872 | BCKDHA | c.751A>T (p.Asn251Tyr) c.685A>T (p.Asn229Tyr) n.380A>T c.853A>T (p.Asn285Tyr) c.664A>T (p.Asn222Tyr) n.379A>T | |
19 | g.41422269A= | CA2336459035 | BCKDHA | c.752A= (p.Asn251=) c.686A= (p.Asn229=) n.381A= c.854A= (p.Asn285=) c.665A= (p.Asn222=) n.380A= | |
19 | g.41422269A>C | CA406012873 | BCKDHA | c.752A>C (p.Asn251Thr) c.686A>C (p.Asn229Thr) n.381A>C c.854A>C (p.Asn285Thr) c.665A>C (p.Asn222Thr) n.380A>C | |
19 | g.41422269A>G | CA9461253 | BCKDHA | c.752A>G (p.Asn251Ser) c.686A>G (p.Asn229Ser) n.381A>G c.854A>G (p.Asn285Ser) c.665A>G (p.Asn222Ser) n.380A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422269A>T | CA406012874 | BCKDHA | c.752A>T (p.Asn251Ile) c.686A>T (p.Asn229Ile) n.381A>T c.854A>T (p.Asn285Ile) c.665A>T (p.Asn222Ile) n.380A>T | |
19 | g.41422270C>A | CA406012877 | BCKDHA | c.753C>A (p.Asn251Lys) c.687C>A (p.Asn229Lys) n.382C>A c.855C>A (p.Asn285Lys) c.666C>A (p.Asn222Lys) n.381C>A | |
19 | g.41422270C= | CA2336459036 | BCKDHA | c.753C= (p.Asn251=) c.687C= (p.Asn229=) n.382C= c.855C= (p.Asn285=) c.666C= (p.Asn222=) n.381C= | |
19 | g.41422270C>G | CA406012875 | BCKDHA | c.753C>G (p.Asn251Lys) c.687C>G (p.Asn229Lys) n.382C>G c.855C>G (p.Asn285Lys) c.666C>G (p.Asn222Lys) n.381C>G | dbSNP gnomAD v4 |
19 | g.41422270C>T | CA507690542 | BCKDHA | c.753C>T (p.Asn251=) c.687C>T (p.Asn229=) n.382C>T c.855C>T (p.Asn285=) c.666C>T (p.Asn222=) n.381C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422271T>A | CA406012878 | BCKDHA | c.754T>A (p.Phe252Ile) c.688T>A (p.Phe230Ile) n.383T>A c.856T>A (p.Phe286Ile) c.667T>A (p.Phe223Ile) n.382T>A | |
19 | g.41422271T>C | CA406012879 | BCKDHA | c.754T>C (p.Phe252Leu) c.688T>C (p.Phe230Leu) n.383T>C c.856T>C (p.Phe286Leu) c.667T>C (p.Phe223Leu) n.382T>C | |
19 | g.41422271T>G | CA406012880 | BCKDHA | c.754T>G (p.Phe252Val) c.688T>G (p.Phe230Val) n.383T>G c.856T>G (p.Phe286Val) c.667T>G (p.Phe223Val) n.382T>G | |
19 | g.41422272T>A | CA406012881 | BCKDHA | c.755T>A (p.Phe252Tyr) c.689T>A (p.Phe230Tyr) n.384T>A c.857T>A (p.Phe286Tyr) c.668T>A (p.Phe223Tyr) n.383T>A | |
19 | g.41422272T>C | CA406012882 | BCKDHA | c.755T>C (p.Phe252Ser) c.689T>C (p.Phe230Ser) n.384T>C c.857T>C (p.Phe286Ser) c.668T>C (p.Phe223Ser) n.383T>C | |
19 | g.41422272T>G | CA406012883 | BCKDHA | c.755T>G (p.Phe252Cys) c.689T>G (p.Phe230Cys) n.384T>G c.857T>G (p.Phe286Cys) c.668T>G (p.Phe223Cys) n.383T>G | |
19 | g.41422272T= | CA2336459037 | BCKDHA | c.755T= (p.Phe252=) c.689T= (p.Phe230=) n.384T= c.857T= (p.Phe286=) c.668T= (p.Phe223=) n.383T= | |
19 | g.41422272_41422273insA | CA2336459038 | BCKDHA | c.755_756insA (p.Phe252LeufsTer6) c.689_690insA (p.Phe230LeufsTer6) n.384_385insA c.857_858insA (p.Phe286LeufsTer6) c.668_669insA (p.Phe223LeufsTer6) n.383_384insA | ClinVar dbSNP |
19 | g.41422273C>A | CA406012885 | BCKDHA | c.756C>A (p.Phe252Leu) c.690C>A (p.Phe230Leu) n.385C>A c.858C>A (p.Phe286Leu) c.669C>A (p.Phe223Leu) n.384C>A | |
19 | g.41422273C= | CA2336459039 | BCKDHA | c.756C= (p.Phe252=) c.690C= (p.Phe230=) n.385C= c.858C= (p.Phe286=) c.669C= (p.Phe223=) n.384C= | |
19 | g.41422273C>G | CA406012884 | BCKDHA | c.756C>G (p.Phe252Leu) c.690C>G (p.Phe230Leu) n.385C>G c.858C>G (p.Phe286Leu) c.669C>G (p.Phe223Leu) n.384C>G | gnomAD v4 |
19 | g.41422273C>T | CA9461254 | BCKDHA | c.756C>T (p.Phe252=) c.690C>T (p.Phe230=) n.385C>T c.858C>T (p.Phe286=) c.669C>T (p.Phe223=) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422274G>A | CA9461255 | BCKDHA | c.757G>A (p.Ala253Thr) c.691G>A (p.Ala231Thr) n.386G>A c.859G>A (p.Ala287Thr) c.670G>A (p.Ala224Thr) n.385G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422274G>C | CA406012886 | BCKDHA | c.757G>C (p.Ala253Pro) c.691G>C (p.Ala231Pro) n.386G>C c.859G>C (p.Ala287Pro) c.670G>C (p.Ala224Pro) n.385G>C | |
19 | g.41422274G= | CA2336459040 | BCKDHA | c.757G= (p.Ala253=) c.691G= (p.Ala231=) n.386G= c.859G= (p.Ala287=) c.670G= (p.Ala224=) n.385G= | |
19 | g.41422274G>T | CA406012887 | BCKDHA | c.757G>T (p.Ala253Ser) c.691G>T (p.Ala231Ser) n.386G>T c.859G>T (p.Ala287Ser) c.670G>T (p.Ala224Ser) n.385G>T | COSMIC |
19 | g.41422275C>A | CA406012888 | BCKDHA | c.758C>A (p.Ala253Asp) c.692C>A (p.Ala231Asp) n.387C>A c.860C>A (p.Ala287Asp) c.671C>A (p.Ala224Asp) n.386C>A | |
19 | g.41422275C= | CA2336459041 | BCKDHA | c.758C= (p.Ala253=) c.692C= (p.Ala231=) n.387C= c.860C= (p.Ala287=) c.671C= (p.Ala224=) n.386C= | |
19 | g.41422275C>G | CA406012889 | BCKDHA | c.758C>G (p.Ala253Gly) c.692C>G (p.Ala231Gly) n.387C>G c.860C>G (p.Ala287Gly) c.671C>G (p.Ala224Gly) n.386C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422275C>T | CA406012890 | BCKDHA | c.758C>T (p.Ala253Val) c.692C>T (p.Ala231Val) n.387C>T c.860C>T (p.Ala287Val) c.671C>T (p.Ala224Val) n.386C>T | |
19 | g.41422276T>A | CA507690554 | BCKDHA | c.759T>A (p.Ala253=) c.693T>A (p.Ala231=) n.388T>A c.861T>A (p.Ala287=) c.672T>A (p.Ala224=) n.387T>A | |
19 | g.41422276T>C | CA507690556 | BCKDHA | c.759T>C (p.Ala253=) c.693T>C (p.Ala231=) n.388T>C c.861T>C (p.Ala287=) c.672T>C (p.Ala224=) n.387T>C | |
19 | g.41422276T>G | CA507690555 | BCKDHA | c.759T>G (p.Ala253=) c.693T>G (p.Ala231=) n.388T>G c.861T>G (p.Ala287=) c.672T>G (p.Ala224=) n.387T>G | |
19 | g.41422277G>A | CA406012891 | BCKDHA | c.760G>A (p.Ala254Thr) c.694G>A (p.Ala232Thr) n.389G>A c.862G>A (p.Ala288Thr) c.673G>A (p.Ala225Thr) n.388G>A | |
19 | g.41422277G>C | CA406012892 | BCKDHA | c.760G>C (p.Ala254Pro) c.694G>C (p.Ala232Pro) n.389G>C c.862G>C (p.Ala288Pro) c.673G>C (p.Ala225Pro) n.388G>C | |
19 | g.41422277G>T | CA406012893 | BCKDHA | c.760G>T (p.Ala254Ser) c.694G>T (p.Ala232Ser) n.389G>T c.862G>T (p.Ala288Ser) c.673G>T (p.Ala225Ser) n.388G>T | |
19 | g.41422278C>A | CA221213 | BCKDHA | c.761C>A (p.Ala254Asp) c.695C>A (p.Ala232Asp) n.390C>A c.863C>A (p.Ala288Asp) c.674C>A (p.Ala225Asp) n.389C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422278C= | CA2336459042 | BCKDHA | c.761C= (p.Ala254=) c.695C= (p.Ala232=) n.390C= c.863C= (p.Ala288=) c.674C= (p.Ala225=) n.389C= | |
19 | g.41422278C>G | CA406012894 | BCKDHA | c.761C>G (p.Ala254Gly) c.695C>G (p.Ala232Gly) n.390C>G c.863C>G (p.Ala288Gly) c.674C>G (p.Ala225Gly) n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422278C>T | CA406012895 | BCKDHA | c.761C>T (p.Ala254Val) c.695C>T (p.Ala232Val) n.390C>T c.863C>T (p.Ala288Val) c.674C>T (p.Ala225Val) n.389C>T | |
19 | g.41422279C>A | CA507690557 | BCKDHA | c.762C>A (p.Ala254=) c.696C>A (p.Ala232=) n.391C>A c.864C>A (p.Ala288=) c.675C>A (p.Ala225=) n.390C>A | |
19 | g.41422279C= | CA2336459043 | BCKDHA | c.762C= (p.Ala254=) c.696C= (p.Ala232=) n.391C= c.864C= (p.Ala288=) c.675C= (p.Ala225=) n.390C= | |
19 | g.41422279C>G | CA507690558 | BCKDHA | c.762C>G (p.Ala254=) c.696C>G (p.Ala232=) n.391C>G c.864C>G (p.Ala288=) c.675C>G (p.Ala225=) n.390C>G | |
19 | g.41422279C>T | CA507690559 | BCKDHA | c.762C>T (p.Ala254=) c.696C>T (p.Ala232=) n.391C>T c.864C>T (p.Ala288=) c.675C>T (p.Ala225=) n.390C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422280A>C | CA406012896 | BCKDHA | c.763A>C (p.Thr255Pro) c.697A>C (p.Thr233Pro) n.392A>C c.865A>C (p.Thr289Pro) c.676A>C (p.Thr226Pro) n.391A>C | |
19 | g.41422280A>G | CA406012898 | BCKDHA | c.763A>G (p.Thr255Ala) c.697A>G (p.Thr233Ala) n.392A>G c.865A>G (p.Thr289Ala) c.676A>G (p.Thr226Ala) n.391A>G | |
19 | g.41422280A>T | CA406012897 | BCKDHA | c.763A>T (p.Thr255Ser) c.697A>T (p.Thr233Ser) n.392A>T c.865A>T (p.Thr289Ser) c.676A>T (p.Thr226Ser) n.391A>T | gnomAD v4 |
19 | g.41422281C>A | CA406012899 | BCKDHA | c.764C>A (p.Thr255Lys) c.698C>A (p.Thr233Lys) n.393C>A c.866C>A (p.Thr289Lys) c.677C>A (p.Thr226Lys) n.392C>A | |
19 | g.41422281C>G | CA406012900 | BCKDHA | c.764C>G (p.Thr255Arg) c.698C>G (p.Thr233Arg) n.393C>G c.866C>G (p.Thr289Arg) c.677C>G (p.Thr226Arg) n.392C>G | |
19 | g.41422281C>T | CA406012901 | BCKDHA | c.764C>T (p.Thr255Ile) c.698C>T (p.Thr233Ile) n.393C>T c.866C>T (p.Thr289Ile) c.677C>T (p.Thr226Ile) n.392C>T | gnomAD v4 |
19 | g.41422282A= | CA2336459044 | BCKDHA | c.765A= (p.Thr255=) c.699A= (p.Thr233=) n.394A= c.867A= (p.Thr289=) c.678A= (p.Thr226=) n.393A= | |
19 | g.41422282A>C | CA507690565 | BCKDHA | c.765A>C (p.Thr255=) c.699A>C (p.Thr233=) n.394A>C c.867A>C (p.Thr289=) c.678A>C (p.Thr226=) n.393A>C | |
19 | g.41422282A>G | CA507690566 | BCKDHA | c.765A>G (p.Thr255=) c.699A>G (p.Thr233=) n.394A>G c.867A>G (p.Thr289=) c.678A>G (p.Thr226=) n.393A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422282A>T | CA507690568 | BCKDHA | c.765A>T (p.Thr255=) c.699A>T (p.Thr233=) n.394A>T c.867A>T (p.Thr289=) c.678A>T (p.Thr226=) n.393A>T | |
19 | g.41422283C>A | CA406012902 | BCKDHA | c.766C>A (p.Leu256Ile) c.700C>A (p.Leu234Ile) n.395C>A c.868C>A (p.Leu290Ile) c.679C>A (p.Leu227Ile) n.394C>A | |
19 | g.41422283C>G | CA406012903 | BCKDHA | c.766C>G (p.Leu256Val) c.700C>G (p.Leu234Val) n.395C>G c.868C>G (p.Leu290Val) c.679C>G (p.Leu227Val) n.394C>G | |
19 | g.41422283C>T | CA406012904 | BCKDHA | c.766C>T (p.Leu256Phe) c.700C>T (p.Leu234Phe) n.395C>T c.868C>T (p.Leu290Phe) c.679C>T (p.Leu227Phe) n.394C>T | |
19 | g.41422284T>A | CA406012905 | BCKDHA | c.767T>A (p.Leu256His) c.701T>A (p.Leu234His) n.396T>A c.869T>A (p.Leu290His) c.680T>A (p.Leu227His) n.395T>A | |
19 | g.41422284T>C | CA406012906 | BCKDHA | c.767T>C (p.Leu256Pro) c.701T>C (p.Leu234Pro) n.396T>C c.869T>C (p.Leu290Pro) c.680T>C (p.Leu227Pro) n.395T>C | gnomAD v4 |
19 | g.41422284T>G | CA406012907 | BCKDHA | c.767T>G (p.Leu256Arg) c.701T>G (p.Leu234Arg) n.396T>G c.869T>G (p.Leu290Arg) c.680T>G (p.Leu227Arg) n.395T>G | |
19 | g.41422285T>A | CA507690570 | BCKDHA | c.768T>A (p.Leu256=) c.702T>A (p.Leu234=) n.397T>A c.870T>A (p.Leu290=) c.681T>A (p.Leu227=) n.396T>A | |
19 | g.41422285T>C | CA507690571 | BCKDHA | c.768T>C (p.Leu256=) c.702T>C (p.Leu234=) n.397T>C c.870T>C (p.Leu290=) c.681T>C (p.Leu227=) n.396T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422285T>G | CA507690572 | BCKDHA | c.768T>G (p.Leu256=) c.702T>G (p.Leu234=) n.397T>G c.870T>G (p.Leu290=) c.681T>G (p.Leu227=) n.396T>G | |
19 | g.41422285T= | CA2336459045 | BCKDHA | c.768T= (p.Leu256=) c.702T= (p.Leu234=) n.397T= c.870T= (p.Leu290=) c.681T= (p.Leu227=) n.396T= | |
19 | g.41422286G>A | CA406012908 | BCKDHA | c.769G>A (p.Glu257Lys) c.703G>A (p.Glu235Lys) n.398G>A c.871G>A (p.Glu291Lys) c.682G>A (p.Glu228Lys) n.397G>A | |
19 | g.41422286G>C | CA406012909 | BCKDHA | c.769G>C (p.Glu257Gln) c.703G>C (p.Glu235Gln) n.398G>C c.871G>C (p.Glu291Gln) c.682G>C (p.Glu228Gln) n.397G>C | |
19 | g.41422286G>T | CA406012910 | BCKDHA | c.769G>T (p.Glu257Ter) c.703G>T (p.Glu235Ter) n.398G>T c.871G>T (p.Glu291Ter) c.682G>T (p.Glu228Ter) n.397G>T | |
19 | g.41422286dup | CA2585307994 | BCKDHA | c.769dup (p.Glu257GlyfsTer21) c.703dup (p.Glu235GlyfsTer21) n.398dup c.871dup (p.Glu291GlyfsTer21) c.682dup (p.Glu228GlyfsTer21) n.397dup | gnomAD v4 |
19 | g.41422287A>C | CA406012913 | BCKDHA | c.770A>C (p.Glu257Ala) c.704A>C (p.Glu235Ala) n.399A>C c.872A>C (p.Glu291Ala) c.683A>C (p.Glu228Ala) n.398A>C | |
19 | g.41422287A>G | CA406012911 | BCKDHA | c.770A>G (p.Glu257Gly) c.704A>G (p.Glu235Gly) n.399A>G c.872A>G (p.Glu291Gly) c.683A>G (p.Glu228Gly) n.398A>G | |
19 | g.41422287A>T | CA406012912 | BCKDHA | c.770A>T (p.Glu257Val) c.704A>T (p.Glu235Val) n.399A>T c.872A>T (p.Glu291Val) c.683A>T (p.Glu228Val) n.398A>T | |
19 | g.41422288G>A | CA507690578 | BCKDHA | c.771G>A (p.Glu257=) c.705G>A (p.Glu235=) n.400G>A c.873G>A (p.Glu291=) c.684G>A (p.Glu228=) n.399G>A | gnomAD v4 |
19 | g.41422288G>C | CA406012914 | BCKDHA | c.771G>C (p.Glu257Asp) c.705G>C (p.Glu235Asp) n.400G>C c.873G>C (p.Glu291Asp) c.684G>C (p.Glu228Asp) n.399G>C | |
19 | g.41422288G>T | CA406012915 | BCKDHA | c.771G>T (p.Glu257Asp) c.705G>T (p.Glu235Asp) n.400G>T c.873G>T (p.Glu291Asp) c.684G>T (p.Glu228Asp) n.399G>T | |
19 | g.41422289T>A | CA406012916 | BCKDHA | c.772T>A (p.Cys258Ser) c.706T>A (p.Cys236Ser) n.401T>A c.874T>A (p.Cys292Ser) c.685T>A (p.Cys229Ser) n.400T>A | |
19 | g.41422289T>C | CA406012917 | BCKDHA | c.772T>C (p.Cys258Arg) c.706T>C (p.Cys236Arg) n.401T>C c.874T>C (p.Cys292Arg) c.685T>C (p.Cys229Arg) n.400T>C | |
19 | g.41422289T>G | CA406012918 | BCKDHA | c.772T>G (p.Cys258Gly) c.706T>G (p.Cys236Gly) n.401T>G c.874T>G (p.Cys292Gly) c.685T>G (p.Cys229Gly) n.400T>G | |
19 | g.41422290G>A | CA406012919 | BCKDHA | c.773G>A (p.Cys258Tyr) c.707G>A (p.Cys236Tyr) n.402G>A c.875G>A (p.Cys292Tyr) c.686G>A (p.Cys229Tyr) n.401G>A | |
19 | g.41422290G>C | CA406012920 | BCKDHA | c.773G>C (p.Cys258Ser) c.707G>C (p.Cys236Ser) n.402G>C c.875G>C (p.Cys292Ser) c.686G>C (p.Cys229Ser) n.401G>C | |
19 | g.41422290G>T | CA406012921 | BCKDHA | c.773G>T (p.Cys258Phe) c.707G>T (p.Cys236Phe) n.402G>T c.875G>T (p.Cys292Phe) c.686G>T (p.Cys229Phe) n.401G>T | |
19 | g.41422290_41422291delinsAA | CA2573054776 | BCKDHA | c.773_774delinsAA (p.Cys258Ter) c.707_708delinsAA (p.Cys236Ter) n.402_403delinsAA c.875_876delinsAA (p.Cys292Ter) c.686_687delinsAA (p.Cys229Ter) n.401_402delinsAA | ClinVar dbSNP |
19 | g.41422291C>A | CA406012922 | BCKDHA | c.774C>A (p.Cys258Ter) c.708C>A (p.Cys236Ter) n.403C>A c.876C>A (p.Cys292Ter) c.687C>A (p.Cys229Ter) n.402C>A | ClinVar dbSNP |
19 | g.41422291C= | CA2336459046 | BCKDHA | c.774C= (p.Cys258=) c.708C= (p.Cys236=) n.403C= c.876C= (p.Cys292=) c.687C= (p.Cys229=) n.402C= | |
19 | g.41422291C>G | CA406012923 | BCKDHA | c.774C>G (p.Cys258Trp) c.708C>G (p.Cys236Trp) n.403C>G c.876C>G (p.Cys292Trp) c.687C>G (p.Cys229Trp) n.402C>G | |
19 | g.41422291C>T | CA507690579 | BCKDHA | c.774C>T (p.Cys258=) c.708C>T (p.Cys236=) n.403C>T c.876C>T (p.Cys292=) c.687C>T (p.Cys229=) n.402C>T | |
19 | g.41422292C>A | CA406012926 | BCKDHA | c.775C>A (p.Pro259Thr) c.709C>A (p.Pro237Thr) n.404C>A c.877C>A (p.Pro293Thr) c.688C>A (p.Pro230Thr) n.403C>A | |
19 | g.41422292C>G | CA406012925 | BCKDHA | c.775C>G (p.Pro259Ala) c.709C>G (p.Pro237Ala) n.404C>G c.877C>G (p.Pro293Ala) c.688C>G (p.Pro230Ala) n.403C>G | |
19 | g.41422292C>T | CA406012924 | BCKDHA | c.775C>T (p.Pro259Ser) c.709C>T (p.Pro237Ser) n.404C>T c.877C>T (p.Pro293Ser) c.688C>T (p.Pro230Ser) n.403C>T | |
19 | g.41422293C>A | CA406012927 | BCKDHA | c.776C>A (p.Pro259His) c.710C>A (p.Pro237His) n.405C>A c.878C>A (p.Pro293His) c.689C>A (p.Pro230His) n.404C>A | |
19 | g.41422293C>G | CA406012928 | BCKDHA | c.776C>G (p.Pro259Arg) c.710C>G (p.Pro237Arg) n.405C>G c.878C>G (p.Pro293Arg) c.689C>G (p.Pro230Arg) n.404C>G | |
19 | g.41422293C>T | CA406012929 | BCKDHA | c.776C>T (p.Pro259Leu) c.710C>T (p.Pro237Leu) n.405C>T c.878C>T (p.Pro293Leu) c.689C>T (p.Pro230Leu) n.404C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422294C>A | CA507690582 | BCKDHA | c.777C>A (p.Pro259=) c.711C>A (p.Pro237=) n.406C>A c.879C>A (p.Pro293=) c.690C>A (p.Pro230=) n.405C>A | |
19 | g.41422294C>G | CA507690583 | BCKDHA | c.777C>G (p.Pro259=) c.711C>G (p.Pro237=) n.406C>G c.879C>G (p.Pro293=) c.690C>G (p.Pro230=) n.405C>G | |
19 | g.41422294C>T | CA507690585 | BCKDHA | c.777C>T (p.Pro259=) c.711C>T (p.Pro237=) n.406C>T c.879C>T (p.Pro293=) c.690C>T (p.Pro230=) n.405C>T | ClinVar |
19 | g.41422298_41422300del | CA2585307995 | BCKDHA | c.781_783del (p.Ile261del) c.715_717del (p.Ile239del) n.410_412del c.883_885del (p.Ile295del) c.694_696del (p.Ile232del) n.409_411del | gnomAD v4 |
19 | g.41422295A>C | CA406012930 | BCKDHA | c.778A>C (p.Ile260Leu) c.712A>C (p.Ile238Leu) n.407A>C c.880A>C (p.Ile294Leu) c.691A>C (p.Ile231Leu) n.406A>C | |
19 | g.41422295A>G | CA406012931 | BCKDHA | c.778A>G (p.Ile260Val) c.712A>G (p.Ile238Val) n.407A>G c.880A>G (p.Ile294Val) c.691A>G (p.Ile231Val) n.406A>G | |
19 | g.41422295A>T | CA406012932 | BCKDHA | c.778A>T (p.Ile260Phe) c.712A>T (p.Ile238Phe) n.407A>T c.880A>T (p.Ile294Phe) c.691A>T (p.Ile231Phe) n.406A>T | |
19 | g.41422296T>A | CA406012933 | BCKDHA | c.779T>A (p.Ile260Asn) c.713T>A (p.Ile238Asn) n.408T>A c.881T>A (p.Ile294Asn) c.692T>A (p.Ile231Asn) n.407T>A | |
19 | g.41422296T>C | CA406012934 | BCKDHA | c.779T>C (p.Ile260Thr) c.713T>C (p.Ile238Thr) n.408T>C c.881T>C (p.Ile294Thr) c.692T>C (p.Ile231Thr) n.407T>C | |
19 | g.41422296T>G | CA406012935 | BCKDHA | c.779T>G (p.Ile260Ser) c.713T>G (p.Ile238Ser) n.408T>G c.881T>G (p.Ile294Ser) c.692T>G (p.Ile231Ser) n.407T>G | |
19 | g.41422297C>A | CA507690591 | BCKDHA | c.780C>A (p.Ile260=) c.714C>A (p.Ile238=) n.409C>A c.882C>A (p.Ile294=) c.693C>A (p.Ile231=) n.408C>A | |
19 | g.41422297C= | CA2336459047 | BCKDHA | c.780C= (p.Ile260=) c.714C= (p.Ile238=) n.409C= c.882C= (p.Ile294=) c.693C= (p.Ile231=) n.408C= | |
19 | g.41422297C>G | CA406012936 | BCKDHA | c.780C>G (p.Ile260Met) c.714C>G (p.Ile238Met) n.409C>G c.882C>G (p.Ile294Met) c.693C>G (p.Ile231Met) n.408C>G | dbSNP |
19 | g.41422297C>T | CA507690589 | BCKDHA | c.780C>T (p.Ile260=) c.714C>T (p.Ile238=) n.409C>T c.882C>T (p.Ile294=) c.693C>T (p.Ile231=) n.408C>T | |
19 | g.41422298A= | CA2336459048 | BCKDHA | c.781A= (p.Ile261=) c.715A= (p.Ile239=) n.410A= c.883A= (p.Ile295=) c.694A= (p.Ile232=) n.409A= | |
19 | g.41422298A>C | CA406012937 | BCKDHA | c.781A>C (p.Ile261Leu) c.715A>C (p.Ile239Leu) n.410A>C c.883A>C (p.Ile295Leu) c.694A>C (p.Ile232Leu) n.409A>C | |
19 | g.41422298A>G | CA308524317 | BCKDHA | c.781A>G (p.Ile261Val) c.715A>G (p.Ile239Val) n.410A>G c.883A>G (p.Ile295Val) c.694A>G (p.Ile232Val) n.409A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422298A>T | CA406012938 | BCKDHA | c.781A>T (p.Ile261Phe) c.715A>T (p.Ile239Phe) n.410A>T c.883A>T (p.Ile295Phe) c.694A>T (p.Ile232Phe) n.409A>T | |
19 | g.41422298_41422301delinsATCT | CA2336459049 | BCKDHA | c.781_784delinsATCT (p.Ile261=) c.715_718delinsATCT (p.Ile239=) n.410_413delinsATCT c.883_886delinsATCT (p.Ile295=) c.694_697delinsATCT (p.Ile232=) n.409_412delinsATCT | |
19 | g.41422299T>A | CA406012942 | BCKDHA | c.782T>A (p.Ile261Asn) c.716T>A (p.Ile239Asn) n.411T>A c.884T>A (p.Ile295Asn) c.695T>A (p.Ile232Asn) n.410T>A | |
19 | g.41422299T>C | CA406012941 | BCKDHA | c.782T>C (p.Ile261Thr) c.716T>C (p.Ile239Thr) n.411T>C c.884T>C (p.Ile295Thr) c.695T>C (p.Ile232Thr) n.410T>C | |
19 | g.41422299T>G | CA406012940 | BCKDHA | c.782T>G (p.Ile261Ser) c.716T>G (p.Ile239Ser) n.411T>G c.884T>G (p.Ile295Ser) c.695T>G (p.Ile232Ser) n.410T>G | |
19 | g.41422305_41422307del | CA221215 | BCKDHA | c.788_790del (p.Phe263del) c.722_724del (p.Phe241del) n.417_419del c.890_892del (p.Phe297del) c.701_703del (p.Phe234del) n.416_418del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422300C>A | CA507690599 | BCKDHA | c.783C>A (p.Ile261=) c.717C>A (p.Ile239=) n.412C>A c.885C>A (p.Ile295=) c.696C>A (p.Ile232=) n.411C>A | dbSNP gnomAD v4 |
19 | g.41422300C= | CA2336459050 | BCKDHA | c.783C= (p.Ile261=) c.717C= (p.Ile239=) n.412C= c.885C= (p.Ile295=) c.696C= (p.Ile232=) n.411C= | |
19 | g.41422300C>G | CA406012943 | BCKDHA | c.783C>G (p.Ile261Met) c.717C>G (p.Ile239Met) n.412C>G c.885C>G (p.Ile295Met) c.696C>G (p.Ile232Met) n.411C>G | |
19 | g.41422300C>T | CA507690601 | BCKDHA | c.783C>T (p.Ile261=) c.717C>T (p.Ile239=) n.412C>T c.885C>T (p.Ile295=) c.696C>T (p.Ile232=) n.411C>T | dbSNP gnomAD v4 |
19 | g.41422301T>A | CA9461256 | BCKDHA | c.784T>A (p.Phe262Ile) c.718T>A (p.Phe240Ile) n.413T>A c.886T>A (p.Phe296Ile) c.697T>A (p.Phe233Ile) n.412T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422301T>C | CA406012944 | BCKDHA | c.784T>C (p.Phe262Leu) c.718T>C (p.Phe240Leu) n.413T>C c.886T>C (p.Phe296Leu) c.697T>C (p.Phe233Leu) n.412T>C | |
19 | g.41422301T>G | CA406012945 | BCKDHA | c.784T>G (p.Phe262Val) c.718T>G (p.Phe240Val) n.413T>G c.886T>G (p.Phe296Val) c.697T>G (p.Phe233Val) n.412T>G | |
19 | g.41422301T= | CA2336459051 | BCKDHA | c.784T= (p.Phe262=) c.718T= (p.Phe240=) n.413T= c.886T= (p.Phe296=) c.697T= (p.Phe233=) n.412T= | |
19 | g.41422302T>A | CA406012946 | BCKDHA | c.785T>A (p.Phe262Tyr) c.719T>A (p.Phe240Tyr) n.414T>A c.887T>A (p.Phe296Tyr) c.698T>A (p.Phe233Tyr) n.413T>A | |
19 | g.41422302T>C | CA406012947 | BCKDHA | c.785T>C (p.Phe262Ser) c.719T>C (p.Phe240Ser) n.414T>C c.887T>C (p.Phe296Ser) c.698T>C (p.Phe233Ser) n.413T>C | |
19 | g.41422302T>G | CA406012948 | BCKDHA | c.785T>G (p.Phe262Cys) c.719T>G (p.Phe240Cys) n.414T>G c.887T>G (p.Phe296Cys) c.698T>G (p.Phe233Cys) n.413T>G | |
19 | g.41422303C>A | CA406012949 | BCKDHA | c.786C>A (p.Phe262Leu) c.720C>A (p.Phe240Leu) n.415C>A c.888C>A (p.Phe296Leu) c.699C>A (p.Phe233Leu) n.414C>A | |
19 | g.41422303C>G | CA406012950 | BCKDHA | c.786C>G (p.Phe262Leu) c.720C>G (p.Phe240Leu) n.415C>G c.888C>G (p.Phe296Leu) c.699C>G (p.Phe233Leu) n.414C>G | |
19 | g.41422303C>T | CA507690608 | BCKDHA | c.786C>T (p.Phe262=) c.720C>T (p.Phe240=) n.415C>T c.888C>T (p.Phe296=) c.699C>T (p.Phe233=) n.414C>T | COSMIC |
19 | g.41422304T>A | CA406012951 | BCKDHA | c.787T>A (p.Phe263Ile) c.721T>A (p.Phe241Ile) n.416T>A c.889T>A (p.Phe297Ile) c.700T>A (p.Phe234Ile) n.415T>A | |
19 | g.41422304T>C | CA308524322 | BCKDHA | c.787T>C (p.Phe263Leu) c.721T>C (p.Phe241Leu) n.416T>C c.889T>C (p.Phe297Leu) c.700T>C (p.Phe234Leu) n.415T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422304T>G | CA9461257 | BCKDHA | c.787T>G (p.Phe263Val) c.721T>G (p.Phe241Val) n.416T>G c.889T>G (p.Phe297Val) c.700T>G (p.Phe234Val) n.415T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422304T= | CA2336459052 | BCKDHA | c.787T= (p.Phe263=) c.721T= (p.Phe241=) n.416T= c.889T= (p.Phe297=) c.700T= (p.Phe234=) n.415T= | |
19 | g.41422305T>A | CA406012952 | BCKDHA | c.788T>A (p.Phe263Tyr) c.722T>A (p.Phe241Tyr) n.417T>A c.890T>A (p.Phe297Tyr) c.701T>A (p.Phe234Tyr) n.416T>A | |
19 | g.41422305T>C | CA406012953 | BCKDHA | c.788T>C (p.Phe263Ser) c.722T>C (p.Phe241Ser) n.417T>C c.890T>C (p.Phe297Ser) c.701T>C (p.Phe234Ser) n.416T>C | |
19 | g.41422305T>G | CA406012954 | BCKDHA | c.788T>G (p.Phe263Cys) c.722T>G (p.Phe241Cys) n.417T>G c.890T>G (p.Phe297Cys) c.701T>G (p.Phe234Cys) n.416T>G | |
19 | g.41422306C>A | CA406012955 | BCKDHA | c.789C>A (p.Phe263Leu) c.723C>A (p.Phe241Leu) n.418C>A c.891C>A (p.Phe297Leu) c.702C>A (p.Phe234Leu) n.417C>A | |
19 | g.41422306C>G | CA406012956 | BCKDHA | c.789C>G (p.Phe263Leu) c.723C>G (p.Phe241Leu) n.418C>G c.891C>G (p.Phe297Leu) c.702C>G (p.Phe234Leu) n.417C>G | |
19 | g.41422306C>T | CA507690610 | BCKDHA | c.789C>T (p.Phe263=) c.723C>T (p.Phe241=) n.418C>T c.891C>T (p.Phe297=) c.702C>T (p.Phe234=) n.417C>T | ClinVar |
19 | g.41422307T>A | CA406012957 | BCKDHA | c.790T>A (p.Cys264Ser) c.724T>A (p.Cys242Ser) n.419T>A c.892T>A (p.Cys298Ser) c.703T>A (p.Cys235Ser) n.418T>A | |
19 | g.41422307T>C | CA406012958 | BCKDHA | c.790T>C (p.Cys264Arg) c.724T>C (p.Cys242Arg) n.419T>C c.892T>C (p.Cys298Arg) c.703T>C (p.Cys235Arg) n.418T>C | |
19 | g.41422307T>G | CA406012959 | BCKDHA | c.790T>G (p.Cys264Gly) c.724T>G (p.Cys242Gly) n.419T>G c.892T>G (p.Cys298Gly) c.703T>G (p.Cys235Gly) n.418T>G | |
19 | g.41422308G>A | CA406012960 | BCKDHA | c.791G>A (p.Cys264Tyr) c.725G>A (p.Cys242Tyr) n.420G>A c.893G>A (p.Cys298Tyr) c.704G>A (p.Cys235Tyr) n.419G>A | |
19 | g.41422308G>C | CA406012961 | BCKDHA | c.791G>C (p.Cys264Ser) c.725G>C (p.Cys242Ser) n.420G>C c.893G>C (p.Cys298Ser) c.704G>C (p.Cys235Ser) n.419G>C | |
19 | g.41422308G>T | CA406012962 | BCKDHA | c.791G>T (p.Cys264Phe) c.725G>T (p.Cys242Phe) n.420G>T c.893G>T (p.Cys298Phe) c.704G>T (p.Cys235Phe) n.419G>T | |
19 | g.41422309C>A | CA406012963 | BCKDHA | c.792C>A (p.Cys264Ter) c.726C>A (p.Cys242Ter) n.421C>A c.894C>A (p.Cys298Ter) c.705C>A (p.Cys235Ter) n.420C>A | |
19 | g.41422309C= | CA2336459053 | BCKDHA | c.792C= (p.Cys264=) c.726C= (p.Cys242=) n.421C= c.894C= (p.Cys298=) c.705C= (p.Cys235=) n.420C= | |
19 | g.41422309C>G | CA115521 | BCKDHA | c.792C>G (p.Cys264Trp) c.726C>G (p.Cys242Trp) n.421C>G c.894C>G (p.Cys298Trp) c.705C>G (p.Cys235Trp) n.420C>G | ClinVar dbSNP gnomAD v4 |
19 | g.41422309C>T | CA507690615 | BCKDHA | c.792C>T (p.Cys264=) c.726C>T (p.Cys242=) n.421C>T c.894C>T (p.Cys298=) c.705C>T (p.Cys235=) n.420C>T | |
19 | g.41422310C>A | CA507690616 | BCKDHA | c.793C>A (p.Arg265=) c.727C>A (p.Arg243=) n.422C>A c.895C>A (p.Arg299=) c.706C>A (p.Arg236=) n.421C>A | |
19 | g.41422310C= | CA2336459054 | BCKDHA | c.793C= (p.Arg265=) c.727C= (p.Arg243=) n.422C= c.895C= (p.Arg299=) c.706C= (p.Arg236=) n.421C= | |
19 | g.41422310C>G | CA406012964 | BCKDHA | c.793C>G (p.Arg265Gly) c.727C>G (p.Arg243Gly) n.422C>G c.895C>G (p.Arg299Gly) c.706C>G (p.Arg236Gly) n.421C>G | |
19 | g.41422310C>T | CA115512 | BCKDHA | c.793C>T (p.Arg265Trp) c.727C>T (p.Arg243Trp) n.422C>T c.895C>T (p.Arg299Trp) c.706C>T (p.Arg236Trp) n.421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422311G>A | CA308524323 | BCKDHA | c.794G>A (p.Arg265Gln) c.728G>A (p.Arg243Gln) n.423G>A c.896G>A (p.Arg299Gln) c.707G>A (p.Arg236Gln) n.422G>A | ClinVar dbSNP gnomAD v4 |
19 | g.41422311G>C | CA308524327 | BCKDHA | c.794G>C (p.Arg265Pro) c.728G>C (p.Arg243Pro) n.423G>C c.896G>C (p.Arg299Pro) c.707G>C (p.Arg236Pro) n.422G>C | ClinVar dbSNP gnomAD v4 |
19 | g.41422311G= | CA2336459055 | BCKDHA | c.794G= (p.Arg265=) c.728G= (p.Arg243=) n.423G= c.896G= (p.Arg299=) c.707G= (p.Arg236=) n.422G= | |
19 | g.41422311G>T | CA406012965 | BCKDHA | c.794G>T (p.Arg265Leu) c.728G>T (p.Arg243Leu) n.423G>T c.896G>T (p.Arg299Leu) c.707G>T (p.Arg236Leu) n.422G>T | |
19 | g.41422312del | CA2739290178 | BCKDHA | c.795del (p.Asn266ThrfsTer?) c.729del (p.Asn244ThrfsTer?) n.424del c.897del (p.Asn300ThrfsTer?) c.708del (p.Asn237ThrfsTer?) n.423del | |
19 | g.41422312G>A | CA507690625 | BCKDHA | c.795G>A (p.Arg265=) c.729G>A (p.Arg243=) n.424G>A c.897G>A (p.Arg299=) c.708G>A (p.Arg236=) n.423G>A | |
19 | g.41422312G>C | CA507690624 | BCKDHA | c.795G>C (p.Arg265=) c.729G>C (p.Arg243=) n.424G>C c.897G>C (p.Arg299=) c.708G>C (p.Arg236=) n.423G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422312G= | CA2336459057 | BCKDHA | c.795G= (p.Arg265=) c.729G= (p.Arg243=) n.424G= c.897G= (p.Arg299=) c.708G= (p.Arg236=) n.423G= | |
19 | g.41422312G>T | CA507690623 | BCKDHA | c.795G>T (p.Arg265=) c.729G>T (p.Arg243=) n.424G>T c.897G>T (p.Arg299=) c.708G>T (p.Arg236=) n.423G>T | |
19 | g.41422312_41422313delinsGA | CA2336459056 | BCKDHA | c.795_796delinsGA (p.Arg265=) c.729_730delinsGA (p.Arg243=) n.424_425delinsGA c.897_898delinsGA (p.Arg299=) c.708_709delinsGA (p.Arg236=) n.423_424delinsGA | |
19 | g.41422313A>C | CA406012966 | BCKDHA | c.796A>C (p.Asn266His) c.730A>C (p.Asn244His) n.425A>C c.898A>C (p.Asn300His) c.709A>C (p.Asn237His) n.424A>C | |
19 | g.41422313A>G | CA406012967 | BCKDHA | c.796A>G (p.Asn266Asp) c.730A>G (p.Asn244Asp) n.425A>G c.898A>G (p.Asn300Asp) c.709A>G (p.Asn237Asp) n.424A>G | |
19 | g.41422313A>T | CA406012968 | BCKDHA | c.796A>T (p.Asn266Tyr) c.730A>T (p.Asn244Tyr) n.425A>T c.898A>T (p.Asn300Tyr) c.709A>T (p.Asn237Tyr) n.424A>T | |
19 | g.41422313_41422314delinsT | CA2739276836 | BCKDHA | c.796_797delinsT (p.Asn266SerfsTer?) c.730_731delinsT (p.Asn244SerfsTer?) n.425_426delinsT c.898_899delinsT (p.Asn300SerfsTer?) c.709_710delinsT (p.Asn237SerfsTer?) n.424_425delinsT | ClinVar |
19 | g.41422314del | CA9461258 | BCKDHA | c.797del (p.Asn266ThrfsTer?) c.731del (p.Asn244ThrfsTer?) n.426del c.899del (p.Asn300ThrfsTer?) c.710del (p.Asn237ThrfsTer?) n.425del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422314A= | CA2336459058 | BCKDHA | c.797A= (p.Asn266=) c.731A= (p.Asn244=) n.426A= c.899A= (p.Asn300=) c.710A= (p.Asn237=) n.425A= | |
19 | g.41422314A>C | CA406012969 | BCKDHA | c.797A>C (p.Asn266Thr) c.731A>C (p.Asn244Thr) n.426A>C c.899A>C (p.Asn300Thr) c.710A>C (p.Asn237Thr) n.425A>C | |
19 | g.41422314A>G | CA406012970 | BCKDHA | c.797A>G (p.Asn266Ser) c.731A>G (p.Asn244Ser) n.426A>G c.899A>G (p.Asn300Ser) c.710A>G (p.Asn237Ser) n.425A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422314A>T | CA9461259 | BCKDHA | c.797A>T (p.Asn266Ile) c.731A>T (p.Asn244Ile) n.426A>T c.899A>T (p.Asn300Ile) c.710A>T (p.Asn237Ile) n.425A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422314_41422315delinsT | CA2695198207 | BCKDHA | c.797_798delinsT (p.Asn266IlefsTer?) c.731_732delinsT (p.Asn244IlefsTer?) n.426_427delinsT c.899_900delinsT (p.Asn300IlefsTer?) c.710_711delinsT (p.Asn237IlefsTer?) n.425_426delinsT | ClinVar |
19 | g.41422315C>A | CA406012971 | BCKDHA | c.798C>A (p.Asn266Lys) c.732C>A (p.Asn244Lys) n.427C>A c.900C>A (p.Asn300Lys) c.711C>A (p.Asn237Lys) n.426C>A | gnomAD v4 |
19 | g.41422315C= | CA2336459059 | BCKDHA | c.798C= (p.Asn266=) c.732C= (p.Asn244=) n.427C= c.900C= (p.Asn300=) c.711C= (p.Asn237=) n.426C= | |
19 | g.41422315C>G | CA406012972 | BCKDHA | c.798C>G (p.Asn266Lys) c.732C>G (p.Asn244Lys) n.427C>G c.900C>G (p.Asn300Lys) c.711C>G (p.Asn237Lys) n.426C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422315C>T | CA9461260 | BCKDHA | c.798C>T (p.Asn266=) c.732C>T (p.Asn244=) n.427C>T c.900C>T (p.Asn300=) c.711C>T (p.Asn237=) n.426C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422316A>C | CA406012975 | BCKDHA | c.799A>C (p.Asn267His) c.733A>C (p.Asn245His) n.428A>C c.901A>C (p.Asn301His) c.712A>C (p.Asn238His) n.427A>C | |
19 | g.41422316A>G | CA406012974 | BCKDHA | c.799A>G (p.Asn267Asp) c.733A>G (p.Asn245Asp) n.428A>G c.901A>G (p.Asn301Asp) c.712A>G (p.Asn238Asp) n.427A>G | |
19 | g.41422316A>T | CA406012973 | BCKDHA | c.799A>T (p.Asn267Tyr) c.733A>T (p.Asn245Tyr) n.428A>T c.901A>T (p.Asn301Tyr) c.712A>T (p.Asn238Tyr) n.427A>T | |
19 | g.41422317A= | CA2336459060 | BCKDHA | c.800A= (p.Asn267=) c.734A= (p.Asn245=) n.429A= c.902A= (p.Asn301=) c.713A= (p.Asn238=) n.428A= | |
19 | g.41422317A>C | CA406012977 | BCKDHA | c.800A>C (p.Asn267Thr) c.734A>C (p.Asn245Thr) n.429A>C c.902A>C (p.Asn301Thr) c.713A>C (p.Asn238Thr) n.428A>C | |
19 | g.41422317A>G | CA406012979 | BCKDHA | c.800A>G (p.Asn267Ser) c.734A>G (p.Asn245Ser) n.429A>G c.902A>G (p.Asn301Ser) c.713A>G (p.Asn238Ser) n.428A>G | ClinVar dbSNP gnomAD v4 |
19 | g.41422317A>T | CA406012978 | BCKDHA | c.800A>T (p.Asn267Ile) c.734A>T (p.Asn245Ile) n.429A>T c.902A>T (p.Asn301Ile) c.713A>T (p.Asn238Ile) n.428A>T | |
19 | g.41422318T>A | CA406012980 | BCKDHA | c.801T>A (p.Asn267Lys) c.735T>A (p.Asn245Lys) n.430T>A c.903T>A (p.Asn301Lys) c.714T>A (p.Asn238Lys) n.429T>A | |
19 | g.41422318T>C | CA507690627 | BCKDHA | c.801T>C (p.Asn267=) c.735T>C (p.Asn245=) n.430T>C c.903T>C (p.Asn301=) c.714T>C (p.Asn238=) n.429T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422318T>G | CA406012981 | BCKDHA | c.801T>G (p.Asn267Lys) c.735T>G (p.Asn245Lys) n.430T>G c.903T>G (p.Asn301Lys) c.714T>G (p.Asn238Lys) n.429T>G | |
19 | g.41422318T= | CA2336459061 | BCKDHA | c.801T= (p.Asn267=) c.735T= (p.Asn245=) n.430T= c.903T= (p.Asn301=) c.714T= (p.Asn238=) n.429T= | |
19 | g.41422319G>A | CA406012982 | BCKDHA | c.802G>A (p.Gly268Ser) c.736G>A (p.Gly246Ser) n.431G>A c.904G>A (p.Gly302Ser) c.715G>A (p.Gly239Ser) n.430G>A | |
19 | g.41422319G>C | CA406012983 | BCKDHA | c.802G>C (p.Gly268Arg) c.736G>C (p.Gly246Arg) n.431G>C c.904G>C (p.Gly302Arg) c.715G>C (p.Gly239Arg) n.430G>C | |
19 | g.41422319G>T | CA406012984 | BCKDHA | c.802G>T (p.Gly268Cys) c.736G>T (p.Gly246Cys) n.431G>T c.904G>T (p.Gly302Cys) c.715G>T (p.Gly239Cys) n.430G>T | |
19 | g.41422320G>A | CA406012985 | BCKDHA | c.803G>A (p.Gly268Asp) c.737G>A (p.Gly246Asp) n.432G>A c.905G>A (p.Gly302Asp) c.716G>A (p.Gly239Asp) n.431G>A | |
19 | g.41422320G>C | CA406012986 | BCKDHA | c.803G>C (p.Gly268Ala) c.737G>C (p.Gly246Ala) n.432G>C c.905G>C (p.Gly302Ala) c.716G>C (p.Gly239Ala) n.431G>C | |
19 | g.41422320G>T | CA406012987 | BCKDHA | c.803G>T (p.Gly268Val) c.737G>T (p.Gly246Val) n.432G>T c.905G>T (p.Gly302Val) c.716G>T (p.Gly239Val) n.431G>T | |
19 | g.41422321C>A | CA507690629 | BCKDHA | c.804C>A (p.Gly268=) c.738C>A (p.Gly246=) n.433C>A c.906C>A (p.Gly302=) c.717C>A (p.Gly239=) n.432C>A | |
19 | g.41422321C>G | CA507690630 | BCKDHA | c.804C>G (p.Gly268=) c.738C>G (p.Gly246=) n.433C>G c.906C>G (p.Gly302=) c.717C>G (p.Gly239=) n.432C>G | |
19 | g.41422321C>T | CA507690631 | BCKDHA | c.804C>T (p.Gly268=) c.738C>T (p.Gly246=) n.433C>T c.906C>T (p.Gly302=) c.717C>T (p.Gly239=) n.432C>T | |
19 | g.41422322T>A | CA406012988 | BCKDHA | c.805T>A (p.Tyr269Asn) c.739T>A (p.Tyr247Asn) n.434T>A c.907T>A (p.Tyr303Asn) c.718T>A (p.Tyr240Asn) n.433T>A | |
19 | g.41422322T>C | CA406012989 | BCKDHA | c.805T>C (p.Tyr269His) c.739T>C (p.Tyr247His) n.434T>C c.907T>C (p.Tyr303His) c.718T>C (p.Tyr240His) n.433T>C | |
19 | g.41422322T>G | CA406012990 | BCKDHA | c.805T>G (p.Tyr269Asp) c.739T>G (p.Tyr247Asp) n.434T>G c.907T>G (p.Tyr303Asp) c.718T>G (p.Tyr240Asp) n.433T>G | |
19 | g.41422323A>C | CA406012991 | BCKDHA | c.806A>C (p.Tyr269Ser) c.740A>C (p.Tyr247Ser) n.435A>C c.908A>C (p.Tyr303Ser) c.719A>C (p.Tyr240Ser) n.434A>C | |
19 | g.41422323A>G | CA406012992 | BCKDHA | c.806A>G (p.Tyr269Cys) c.740A>G (p.Tyr247Cys) n.435A>G c.908A>G (p.Tyr303Cys) c.719A>G (p.Tyr240Cys) n.434A>G | |
19 | g.41422323A>T | CA406012993 | BCKDHA | c.806A>T (p.Tyr269Phe) c.740A>T (p.Tyr247Phe) n.435A>T c.908A>T (p.Tyr303Phe) c.719A>T (p.Tyr240Phe) n.434A>T | |
19 | g.41422324C>A | CA9461261 | BCKDHA | c.807C>A (p.Tyr269Ter) c.741C>A (p.Tyr247Ter) n.436C>A c.909C>A (p.Tyr303Ter) c.720C>A (p.Tyr240Ter) n.435C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422324C= | CA2336459062 | BCKDHA | c.807C= (p.Tyr269=) c.741C= (p.Tyr247=) n.436C= c.909C= (p.Tyr303=) c.720C= (p.Tyr240=) n.435C= | |
19 | g.41422324C>G | CA406012994 | BCKDHA | c.807C>G (p.Tyr269Ter) c.741C>G (p.Tyr247Ter) n.436C>G c.909C>G (p.Tyr303Ter) c.720C>G (p.Tyr240Ter) n.435C>G | |
19 | g.41422324C>T | CA9461262 | BCKDHA | c.807C>T (p.Tyr269=) c.741C>T (p.Tyr247=) n.436C>T c.909C>T (p.Tyr303=) c.720C>T (p.Tyr240=) n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422325G>A | CA9461263 | BCKDHA | c.808G>A (p.Ala270Thr) c.742G>A (p.Ala248Thr) n.437G>A c.910G>A (p.Ala304Thr) c.721G>A (p.Ala241Thr) n.436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422325G>C | CA406012996 | BCKDHA | c.808G>C (p.Ala270Pro) c.742G>C (p.Ala248Pro) n.437G>C c.910G>C (p.Ala304Pro) c.721G>C (p.Ala241Pro) n.436G>C | |
19 | g.41422325G= | CA2336459063 | BCKDHA | c.808G= (p.Ala270=) c.742G= (p.Ala248=) n.437G= c.910G= (p.Ala304=) c.721G= (p.Ala241=) n.436G= | |
19 | g.41422325G>T | CA406012998 | BCKDHA | c.808G>T (p.Ala270Ser) c.742G>T (p.Ala248Ser) n.437G>T c.910G>T (p.Ala304Ser) c.721G>T (p.Ala241Ser) n.436G>T | |
19 | g.41422326C>A | CA406012999 | BCKDHA | c.809C>A (p.Ala270Asp) c.743C>A (p.Ala248Asp) n.438C>A c.911C>A (p.Ala304Asp) c.722C>A (p.Ala241Asp) n.437C>A | |
19 | g.41422326C>G | CA406013000 | BCKDHA | c.809C>G (p.Ala270Gly) c.743C>G (p.Ala248Gly) n.438C>G c.911C>G (p.Ala304Gly) c.722C>G (p.Ala241Gly) n.437C>G | |
19 | g.41422326C>T | CA406013001 | BCKDHA | c.809C>T (p.Ala270Val) c.743C>T (p.Ala248Val) n.438C>T c.911C>T (p.Ala304Val) c.722C>T (p.Ala241Val) n.437C>T | |
19 | g.41422327dup | CA2838226220 | BCKDHA | c.810dup (p.Ile271HisfsTer7) c.744dup (p.Ile249HisfsTer7) n.439dup c.912dup (p.Ile305HisfsTer7) c.723dup (p.Ile242HisfsTer7) n.438dup | |
19 | g.41422327C>A | CA507690635 | BCKDHA | c.810C>A (p.Ala270=) c.744C>A (p.Ala248=) n.439C>A c.912C>A (p.Ala304=) c.723C>A (p.Ala241=) n.438C>A | |
19 | g.41422327C= | CA2336459064 | BCKDHA | c.810C= (p.Ala270=) c.744C= (p.Ala248=) n.439C= c.912C= (p.Ala304=) c.723C= (p.Ala241=) n.438C= | |
19 | g.41422327C>G | CA507690636 | BCKDHA | c.810C>G (p.Ala270=) c.744C>G (p.Ala248=) n.439C>G c.912C>G (p.Ala304=) c.723C>G (p.Ala241=) n.438C>G | |
19 | g.41422327C>T | CA507690637 | BCKDHA | c.810C>T (p.Ala270=) c.744C>T (p.Ala248=) n.439C>T c.912C>T (p.Ala304=) c.723C>T (p.Ala241=) n.438C>T | ClinVar dbSNP |
19 | g.41422328A>C | CA406013002 | BCKDHA | c.811A>C (p.Ile271Leu) c.745A>C (p.Ile249Leu) n.440A>C c.913A>C (p.Ile305Leu) c.724A>C (p.Ile242Leu) n.439A>C | |
19 | g.41422328A>G | CA406013003 | BCKDHA | c.811A>G (p.Ile271Val) c.745A>G (p.Ile249Val) n.440A>G c.913A>G (p.Ile305Val) c.724A>G (p.Ile242Val) n.439A>G | |
19 | g.41422328A>T | CA406013004 | BCKDHA | c.811A>T (p.Ile271Phe) c.745A>T (p.Ile249Phe) n.440A>T c.913A>T (p.Ile305Phe) c.724A>T (p.Ile242Phe) n.439A>T | |
19 | g.41422329T>A | CA406013006 | BCKDHA | c.812T>A (p.Ile271Asn) c.746T>A (p.Ile249Asn) n.441T>A c.914T>A (p.Ile305Asn) c.725T>A (p.Ile242Asn) n.440T>A | |
19 | g.41422329T>C | CA406013007 | BCKDHA | c.812T>C (p.Ile271Thr) c.746T>C (p.Ile249Thr) n.441T>C c.914T>C (p.Ile305Thr) c.725T>C (p.Ile242Thr) n.440T>C | |
19 | g.41422329T>G | CA406013005 | BCKDHA | c.812T>G (p.Ile271Ser) c.746T>G (p.Ile249Ser) n.441T>G c.914T>G (p.Ile305Ser) c.725T>G (p.Ile242Ser) n.440T>G | |
19 | g.41422330C>A | CA507690638 | BCKDHA | c.813C>A (p.Ile271=) c.747C>A (p.Ile249=) n.442C>A c.915C>A (p.Ile305=) c.726C>A (p.Ile242=) n.441C>A | gnomAD v4 |
19 | g.41422330C>G | CA406013008 | BCKDHA | c.813C>G (p.Ile271Met) c.747C>G (p.Ile249Met) n.442C>G c.915C>G (p.Ile305Met) c.726C>G (p.Ile242Met) n.441C>G | |
19 | g.41422330C>T | CA507690639 | BCKDHA | c.813C>T (p.Ile271=) c.747C>T (p.Ile249=) n.442C>T c.915C>T (p.Ile305=) c.726C>T (p.Ile242=) n.441C>T | |
19 | g.41422331T>A | CA406013009 | BCKDHA | c.814T>A (p.Ser272Thr) c.748T>A (p.Ser250Thr) n.443T>A c.916T>A (p.Ser306Thr) c.727T>A (p.Ser243Thr) n.442T>A | |
19 | g.41422331T>C | CA406013010 | BCKDHA | c.814T>C (p.Ser272Pro) c.748T>C (p.Ser250Pro) n.443T>C c.916T>C (p.Ser306Pro) c.727T>C (p.Ser243Pro) n.442T>C | |
19 | g.41422331T>G | CA406013011 | BCKDHA | c.814T>G (p.Ser272Ala) c.748T>G (p.Ser250Ala) n.443T>G c.916T>G (p.Ser306Ala) c.727T>G (p.Ser243Ala) n.442T>G | |
19 | g.41422332C>A | CA406013012 | BCKDHA | c.815C>A (p.Ser272Tyr) c.749C>A (p.Ser250Tyr) n.444C>A c.917C>A (p.Ser306Tyr) c.728C>A (p.Ser243Tyr) n.443C>A | |
19 | g.41422332C>G | CA406013013 | BCKDHA | c.815C>G (p.Ser272Cys) c.749C>G (p.Ser250Cys) n.444C>G c.917C>G (p.Ser306Cys) c.728C>G (p.Ser243Cys) n.443C>G | |
19 | g.41422332C>T | CA406013014 | BCKDHA | c.815C>T (p.Ser272Phe) c.749C>T (p.Ser250Phe) n.444C>T c.917C>T (p.Ser306Phe) c.728C>T (p.Ser243Phe) n.443C>T | COSMIC |
19 | g.41422333C>A | CA507690644 | BCKDHA | c.816C>A (p.Ser272=) c.750C>A (p.Ser250=) n.445C>A c.918C>A (p.Ser306=) c.729C>A (p.Ser243=) n.444C>A | |
19 | g.41422333C>G | CA507690642 | BCKDHA | c.816C>G (p.Ser272=) c.750C>G (p.Ser250=) n.445C>G c.918C>G (p.Ser306=) c.729C>G (p.Ser243=) n.444C>G | ClinVar |
19 | g.41422333C>T | CA507690643 | BCKDHA | c.816C>T (p.Ser272=) c.750C>T (p.Ser250=) n.445C>T c.918C>T (p.Ser306=) c.729C>T (p.Ser243=) n.444C>T | gnomAD v4 |
19 | g.41422334A= | CA2336459065 | BCKDHA | c.817A= (p.Thr273=) c.751A= (p.Thr251=) n.446A= c.919A= (p.Thr307=) c.730A= (p.Thr244=) n.445A= | |
19 | g.41422334A>C | CA406013015 | BCKDHA | c.817A>C (p.Thr273Pro) c.751A>C (p.Thr251Pro) n.446A>C c.919A>C (p.Thr307Pro) c.730A>C (p.Thr244Pro) n.445A>C | gnomAD v4 |
19 | g.41422334A>G | CA221217 | BCKDHA | c.817A>G (p.Thr273Ala) c.751A>G (p.Thr251Ala) n.446A>G c.919A>G (p.Thr307Ala) c.730A>G (p.Thr244Ala) n.445A>G | ClinVar dbSNP |
19 | g.41422334A>T | CA406013016 | BCKDHA | c.817A>T (p.Thr273Ser) c.751A>T (p.Thr251Ser) n.446A>T c.919A>T (p.Thr307Ser) c.730A>T (p.Thr244Ser) n.445A>T | gnomAD v4 |
19 | g.41422335C>A | CA406013017 | BCKDHA | c.818C>A (p.Thr273Lys) c.752C>A (p.Thr251Lys) n.447C>A c.920C>A (p.Thr307Lys) c.731C>A (p.Thr244Lys) n.446C>A | |
19 | g.41422335C= | CA2336459066 | BCKDHA | c.818C= (p.Thr273=) c.752C= (p.Thr251=) n.447C= c.920C= (p.Thr307=) c.731C= (p.Thr244=) n.446C= | |
19 | g.41422335C>G | CA406013018 | BCKDHA | c.818C>G (p.Thr273Arg) c.752C>G (p.Thr251Arg) n.447C>G c.920C>G (p.Thr307Arg) c.731C>G (p.Thr244Arg) n.446C>G | |
19 | g.41422335C>T | CA406013019 | BCKDHA | c.818C>T (p.Thr273Met) c.752C>T (p.Thr251Met) n.447C>T c.920C>T (p.Thr307Met) c.731C>T (p.Thr244Met) n.446C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422336G>A | CA9461265 | BCKDHA | c.819G>A (p.Thr273=) c.753G>A (p.Thr251=) n.448G>A c.921G>A (p.Thr307=) c.732G>A (p.Thr244=) n.447G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41422336G>C | CA507690645 | BCKDHA | c.819G>C (p.Thr273=) c.753G>C (p.Thr251=) n.448G>C c.921G>C (p.Thr307=) c.732G>C (p.Thr244=) n.447G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422336G= | CA2336459067 | BCKDHA | c.819G= (p.Thr273=) c.753G= (p.Thr251=) n.448G= c.921G= (p.Thr307=) c.732G= (p.Thr244=) n.447G= | |
19 | g.41422336G>T | CA9461264 | BCKDHA | c.819G>T (p.Thr273=) c.753G>T (p.Thr251=) n.448G>T c.921G>T (p.Thr307=) c.732G>T (p.Thr244=) n.447G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422337C>A | CA406013020 | BCKDHA | c.820C>A (p.Pro274Thr) c.754C>A (p.Pro252Thr) n.449C>A c.922C>A (p.Pro308Thr) c.733C>A (p.Pro245Thr) n.448C>A | |
19 | g.41422337C>G | CA406013021 | BCKDHA | c.820C>G (p.Pro274Ala) c.754C>G (p.Pro252Ala) n.449C>G c.922C>G (p.Pro308Ala) c.733C>G (p.Pro245Ala) n.448C>G | |
19 | g.41422337C>T | CA406013022 | BCKDHA | c.820C>T (p.Pro274Ser) c.754C>T (p.Pro252Ser) n.449C>T c.922C>T (p.Pro308Ser) c.733C>T (p.Pro245Ser) n.448C>T |