Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422700G>ACA9461303BCKDHAc.925G>A (p.Ala309Thr)
c.859G>A (p.Ala287Thr)
n.554G>A
c.1027G>A (p.Ala343Thr)
c.838G>A (p.Ala280Thr)
n.553G>A
c.922+3G>A (n.922+3G>A)
c.922G>A (p.Ala308Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41422700G>CCA406013407BCKDHAc.925G>C (p.Ala309Pro)
c.859G>C (p.Ala287Pro)
n.554G>C
c.1027G>C (p.Ala343Pro)
c.838G>C (p.Ala280Pro)
n.553G>C
c.922+3G>C (n.922+3G>C)
c.922G>C (p.Ala308Pro)
19g.41422700G=CA2336459234BCKDHAc.925G= (p.Ala309=)
c.859G= (p.Ala287=)
n.554G=
c.1027G= (p.Ala343=)
c.838G= (p.Ala280=)
n.553G=
c.922+3G= (n.922+3G=)
c.922G= (p.Ala308=)
19g.41422700G>TCA406013408BCKDHAc.925G>T (p.Ala309Ser)
c.859G>T (p.Ala287Ser)
n.554G>T
c.1027G>T (p.Ala343Ser)
c.838G>T (p.Ala280Ser)
n.553G>T
c.922+3G>T (n.922+3G>T)
c.922G>T (p.Ala308Ser)
 ClinVar gnomAD v4
19g.41422701C>ACA406013409BCKDHAc.926C>A (p.Ala309Asp)
c.860C>A (p.Ala287Asp)
n.555C>A
c.1028C>A (p.Ala343Asp)
c.839C>A (p.Ala280Asp)
n.554C>A
c.922+4C>A (n.922+4C>A)
c.923C>A (p.Ala308Asp)
19g.41422701C>GCA406013410BCKDHAc.926C>G (p.Ala309Gly)
c.860C>G (p.Ala287Gly)
n.555C>G
c.1028C>G (p.Ala343Gly)
c.839C>G (p.Ala280Gly)
n.554C>G
c.922+4C>G (n.922+4C>G)
c.923C>G (p.Ala308Gly)
19g.41422701C>TCA406013411BCKDHAc.926C>T (p.Ala309Val)
c.860C>T (p.Ala287Val)
n.555C>T
c.1028C>T (p.Ala343Val)
c.839C>T (p.Ala280Val)
n.554C>T
c.922+4C>T (n.922+4C>T)
c.923C>T (p.Ala308Val)
 gnomAD v4
19g.41422702C>ACA507690726BCKDHAc.927C>A (p.Ala309=)
c.861C>A (p.Ala287=)
n.556C>A
c.1029C>A (p.Ala343=)
c.840C>A (p.Ala280=)
n.555C>A
c.922+5C>A (n.922+5C>A)
c.924C>A (p.Ala308=)
19g.41422702C=CA2336459235BCKDHAc.927C= (p.Ala309=)
c.861C= (p.Ala287=)
n.556C=
c.1029C= (p.Ala343=)
c.840C= (p.Ala280=)
n.555C=
c.922+5C= (n.922+5C=)
c.924C= (p.Ala308=)
19g.41422702C>GCA507690727BCKDHAc.927C>G (p.Ala309=)
c.861C>G (p.Ala287=)
n.556C>G
c.1029C>G (p.Ala343=)
c.840C>G (p.Ala280=)
n.555C>G
c.922+5C>G (n.922+5C>G)
c.924C>G (p.Ala308=)
19g.41422702C>TCA9461304BCKDHAc.927C>T (p.Ala309=)
c.861C>T (p.Ala287=)
n.556C>T
c.1029C>T (p.Ala343=)
c.840C>T (p.Ala280=)
n.555C>T
c.922+5C>T (n.922+5C>T)
c.924C>T (p.Ala308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422703A>CCA406013412BCKDHAc.928A>C (p.Thr310Pro)
c.862A>C (p.Thr288Pro)
n.557A>C
c.1030A>C (p.Thr344Pro)
c.841A>C (p.Thr281Pro)
n.556A>C
c.922+6A>C (n.922+6A>C)
c.925A>C (p.Thr309Pro)
 gnomAD v4
19g.41422703A>GCA406013414BCKDHAc.928A>G (p.Thr310Ala)
c.862A>G (p.Thr288Ala)
n.557A>G
c.1030A>G (p.Thr344Ala)
c.841A>G (p.Thr281Ala)
n.556A>G
c.922+6A>G (n.922+6A>G)
c.925A>G (p.Thr309Ala)
 gnomAD v4
19g.41422703A>TCA406013413BCKDHAc.928A>T (p.Thr310Ser)
c.862A>T (p.Thr288Ser)
n.557A>T
c.1030A>T (p.Thr344Ser)
c.841A>T (p.Thr281Ser)
n.556A>T
c.922+6A>T (n.922+6A>T)
c.925A>T (p.Thr309Ser)
19g.41422704C>ACA406013415BCKDHAc.929C>A (p.Thr310Lys)
c.863C>A (p.Thr288Lys)
n.558C>A
c.1031C>A (p.Thr344Lys)
c.842C>A (p.Thr281Lys)
n.557C>A
c.922+7C>A (n.922+7C>A)
c.926C>A (p.Thr309Lys)
19g.41422704C=CA2336459236BCKDHAc.929C= (p.Thr310=)
c.863C= (p.Thr288=)
n.558C=
c.1031C= (p.Thr344=)
c.842C= (p.Thr281=)
n.557C=
c.922+7C= (n.922+7C=)
c.926C= (p.Thr309=)
19g.41422704C>GCA115518BCKDHAc.929C>G (p.Thr310Arg)
c.863C>G (p.Thr288Arg)
n.558C>G
c.1031C>G (p.Thr344Arg)
c.842C>G (p.Thr281Arg)
n.557C>G
c.922+7C>G (n.922+7C>G)
c.926C>G (p.Thr309Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422704C>TCA406013416BCKDHAc.929C>T (p.Thr310Ile)
c.863C>T (p.Thr288Ile)
n.558C>T
c.1031C>T (p.Thr344Ile)
c.842C>T (p.Thr281Ile)
n.557C>T
c.922+7C>T (n.922+7C>T)
c.926C>T (p.Thr309Ile)
 dbSNP gnomAD v4
19g.41422705A>CCA507690728BCKDHAc.930A>C (p.Thr310=)
c.864A>C (p.Thr288=)
n.559A>C
c.1032A>C (p.Thr344=)
c.843A>C (p.Thr281=)
n.558A>C
c.922+8A>C (n.922+8A>C)
c.927A>C (p.Thr309=)
19g.41422705A>GCA507690729BCKDHAc.930A>G (p.Thr310=)
c.864A>G (p.Thr288=)
n.559A>G
c.1032A>G (p.Thr344=)
c.843A>G (p.Thr281=)
n.558A>G
c.922+8A>G (n.922+8A>G)
c.927A>G (p.Thr309=)
19g.41422705A>TCA507690730BCKDHAc.930A>T (p.Thr310=)
c.864A>T (p.Thr288=)
n.559A>T
c.1032A>T (p.Thr344=)
c.843A>T (p.Thr281=)
n.558A>T
c.922+8A>T (n.922+8A>T)
c.927A>T (p.Thr309=)
19g.41422706A=CA2336459237BCKDHAc.931A= (p.Lys311=)
c.865A= (p.Lys289=)
n.560A=
c.1033A= (p.Lys345=)
c.844A= (p.Lys282=)
n.559A=
c.922+9A= (n.922+9A=)
c.928A= (p.Lys310=)
19g.41422706A>CCA406013417BCKDHAc.931A>C (p.Lys311Gln)
c.865A>C (p.Lys289Gln)
n.560A>C
c.1033A>C (p.Lys345Gln)
c.844A>C (p.Lys282Gln)
n.559A>C
c.922+9A>C (n.922+9A>C)
c.928A>C (p.Lys310Gln)
19g.41422706A>GCA406013418BCKDHAc.931A>G (p.Lys311Glu)
c.865A>G (p.Lys289Glu)
n.560A>G
c.1033A>G (p.Lys345Glu)
c.844A>G (p.Lys282Glu)
n.559A>G
c.922+9A>G (n.922+9A>G)
c.928A>G (p.Lys310Glu)
 gnomAD v4
19g.41422706A>TCA406013419BCKDHAc.931A>T (p.Lys311Ter)
c.865A>T (p.Lys289Ter)
n.560A>T
c.1033A>T (p.Lys345Ter)
c.844A>T (p.Lys282Ter)
n.559A>T
c.922+9A>T (n.922+9A>T)
c.928A>T (p.Lys310Ter)
 ClinVar dbSNP
19g.41422707A=CA2336459238BCKDHAc.932A= (p.Lys311=)
c.866A= (p.Lys289=)
n.561A=
c.1034A= (p.Lys345=)
c.845A= (p.Lys282=)
n.560A=
c.922+10A= (n.922+10A=)
c.929A= (p.Lys310=)
19g.41422707A>CCA406013422BCKDHAc.932A>C (p.Lys311Thr)
c.866A>C (p.Lys289Thr)
n.561A>C
c.1034A>C (p.Lys345Thr)
c.845A>C (p.Lys282Thr)
n.560A>C
c.922+10A>C (n.922+10A>C)
c.929A>C (p.Lys310Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.41422707A>GCA406013420BCKDHAc.932A>G (p.Lys311Arg)
c.866A>G (p.Lys289Arg)
n.561A>G
c.1034A>G (p.Lys345Arg)
c.845A>G (p.Lys282Arg)
n.560A>G
c.922+10A>G (n.922+10A>G)
c.929A>G (p.Lys310Arg)
19g.41422707A>TCA406013421BCKDHAc.932A>T (p.Lys311Met)
c.866A>T (p.Lys289Met)
n.561A>T
c.1034A>T (p.Lys345Met)
c.845A>T (p.Lys282Met)
n.560A>T
c.922+10A>T (n.922+10A>T)
c.929A>T (p.Lys310Met)
19g.41422708G>ACA507690731BCKDHAc.933G>A (p.Lys311=)
c.867G>A (p.Lys289=)
n.562G>A
c.1035G>A (p.Lys345=)
c.846G>A (p.Lys282=)
n.561G>A
c.922+11G>A (n.922+11G>A)
c.930G>A (p.Lys310=)
19g.41422708G>CCA406013423BCKDHAc.933G>C (p.Lys311Asn)
c.867G>C (p.Lys289Asn)
n.562G>C
c.1035G>C (p.Lys345Asn)
c.846G>C (p.Lys282Asn)
n.561G>C
c.922+11G>C (n.922+11G>C)
c.930G>C (p.Lys310Asn)
19g.41422708G>TCA406013424BCKDHAc.933G>T (p.Lys311Asn)
c.867G>T (p.Lys289Asn)
n.562G>T
c.1035G>T (p.Lys345Asn)
c.846G>T (p.Lys282Asn)
n.561G>T
c.922+11G>T (n.922+11G>T)
c.930G>T (p.Lys310Asn)
19g.41422709delCA2814427576BCKDHAc.934del (p.Glu312ArgfsTer18)
c.868del (p.Glu290ArgfsTer18)
n.563del
c.1036del (p.Glu346ArgfsTer18)
c.847del (p.Glu283ArgfsTer18)
n.562del
c.922+12del (n.922+12del)
c.931del (p.Glu311ArgfsTer18)
19g.41422709G>ACA406013425BCKDHAc.934G>A (p.Glu312Lys)
c.868G>A (p.Glu290Lys)
n.563G>A
c.1036G>A (p.Glu346Lys)
c.847G>A (p.Glu283Lys)
n.562G>A
c.922+12G>A (n.922+12G>A)
c.931G>A (p.Glu311Lys)
19g.41422709G>CCA406013426BCKDHAc.934G>C (p.Glu312Gln)
c.868G>C (p.Glu290Gln)
n.563G>C
c.1036G>C (p.Glu346Gln)
c.847G>C (p.Glu283Gln)
n.562G>C
c.922+12G>C (n.922+12G>C)
c.931G>C (p.Glu311Gln)
19g.41422709G>TCA406013427BCKDHAc.934G>T (p.Glu312Ter)
c.868G>T (p.Glu290Ter)
n.563G>T
c.1036G>T (p.Glu346Ter)
c.847G>T (p.Glu283Ter)
n.562G>T
c.922+12G>T (n.922+12G>T)
c.931G>T (p.Glu311Ter)
19g.41422710A>CCA406013428BCKDHAc.935A>C (p.Glu312Ala)
c.869A>C (p.Glu290Ala)
n.564A>C
c.1037A>C (p.Glu346Ala)
c.848A>C (p.Glu283Ala)
n.563A>C
c.922+13A>C (n.922+13A>C)
c.932A>C (p.Glu311Ala)
19g.41422710A>GCA406013430BCKDHAc.935A>G (p.Glu312Gly)
c.869A>G (p.Glu290Gly)
n.564A>G
c.1037A>G (p.Glu346Gly)
c.848A>G (p.Glu283Gly)
n.563A>G
c.922+13A>G (n.922+13A>G)
c.932A>G (p.Glu311Gly)
19g.41422710A>TCA406013429BCKDHAc.935A>T (p.Glu312Val)
c.869A>T (p.Glu290Val)
n.564A>T
c.1037A>T (p.Glu346Val)
c.848A>T (p.Glu283Val)
n.563A>T
c.922+13A>T (n.922+13A>T)
c.932A>T (p.Glu311Val)
19g.41422711G>ACA507690732BCKDHAc.936G>A (p.Glu312=)
c.870G>A (p.Glu290=)
n.565G>A
c.1038G>A (p.Glu346=)
c.849G>A (p.Glu283=)
n.564G>A
c.922+14G>A (n.922+14G>A)
c.933G>A (p.Glu311=)
19g.41422711G>CCA406013431BCKDHAc.936G>C (p.Glu312Asp)
c.870G>C (p.Glu290Asp)
n.565G>C
c.1038G>C (p.Glu346Asp)
c.849G>C (p.Glu283Asp)
n.564G>C
c.922+14G>C (n.922+14G>C)
c.933G>C (p.Glu311Asp)
19g.41422711G>TCA406013432BCKDHAc.936G>T (p.Glu312Asp)
c.870G>T (p.Glu290Asp)
n.565G>T
c.1038G>T (p.Glu346Asp)
c.849G>T (p.Glu283Asp)
n.564G>T
c.922+14G>T (n.922+14G>T)
c.933G>T (p.Glu311Asp)
19g.41422712G>ACA406013433BCKDHAc.937G>A (p.Ala313Thr)
c.871G>A (p.Ala291Thr)
n.566G>A
c.1039G>A (p.Ala347Thr)
c.850G>A (p.Ala284Thr)
n.565G>A
c.922+15G>A (n.922+15G>A)
c.934G>A (p.Ala312Thr)
19g.41422712G>CCA406013434BCKDHAc.937G>C (p.Ala313Pro)
c.871G>C (p.Ala291Pro)
n.566G>C
c.1039G>C (p.Ala347Pro)
c.850G>C (p.Ala284Pro)
n.565G>C
c.922+15G>C (n.922+15G>C)
c.934G>C (p.Ala312Pro)
19g.41422712G>TCA406013435BCKDHAc.937G>T (p.Ala313Ser)
c.871G>T (p.Ala291Ser)
n.566G>T
c.1039G>T (p.Ala347Ser)
c.850G>T (p.Ala284Ser)
n.565G>T
c.922+15G>T (n.922+15G>T)
c.934G>T (p.Ala312Ser)
19g.41422713C>ACA406013436BCKDHAc.938C>A (p.Ala313Asp)
c.872C>A (p.Ala291Asp)
n.567C>A
c.1040C>A (p.Ala347Asp)
c.851C>A (p.Ala284Asp)
n.566C>A
c.922+16C>A (n.922+16C>A)
c.935C>A (p.Ala312Asp)
19g.41422713C>GCA406013437BCKDHAc.938C>G (p.Ala313Gly)
c.872C>G (p.Ala291Gly)
n.567C>G
c.1040C>G (p.Ala347Gly)
c.851C>G (p.Ala284Gly)
n.566C>G
c.922+16C>G (n.922+16C>G)
c.935C>G (p.Ala312Gly)
19g.41422713C>TCA406013438BCKDHAc.938C>T (p.Ala313Val)
c.872C>T (p.Ala291Val)
n.567C>T
c.1040C>T (p.Ala347Val)
c.851C>T (p.Ala284Val)
n.566C>T
c.922+16C>T (n.922+16C>T)
c.935C>T (p.Ala312Val)
19g.41422714C>ACA507690733BCKDHAc.939C>A (p.Ala313=)
c.873C>A (p.Ala291=)
n.568C>A
c.1041C>A (p.Ala347=)
c.852C>A (p.Ala284=)
n.567C>A
c.922+17C>A (n.922+17C>A)
c.936C>A (p.Ala312=)
19g.41422714C=CA2336459239BCKDHAc.939C= (p.Ala313=)
c.873C= (p.Ala291=)
n.568C=
c.1041C= (p.Ala347=)
c.852C= (p.Ala284=)
n.567C=
c.922+17C= (n.922+17C=)
c.936C= (p.Ala312=)
19g.41422714C>GCA507690734BCKDHAc.939C>G (p.Ala313=)
c.873C>G (p.Ala291=)
n.568C>G
c.1041C>G (p.Ala347=)
c.852C>G (p.Ala284=)
n.567C>G
c.922+17C>G (n.922+17C>G)
c.936C>G (p.Ala312=)
19g.41422714C>TCA507690735BCKDHAc.939C>T (p.Ala313=)
c.873C>T (p.Ala291=)
n.568C>T
c.1041C>T (p.Ala347=)
c.852C>T (p.Ala284=)
n.567C>T
c.922+17C>T (n.922+17C>T)
c.936C>T (p.Ala312=)
 ClinVar dbSNP gnomAD v4
19g.41422715C>ACA9461305BCKDHAc.940C>A (p.Arg314=)
c.874C>A (p.Arg292=)
n.569C>A
c.1042C>A (p.Arg348=)
c.853C>A (p.Arg285=)
n.568C>A
c.922+18C>A (n.922+18C>A)
c.937C>A (p.Arg313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422715C=CA2336459240BCKDHAc.940C= (p.Arg314=)
c.874C= (p.Arg292=)
n.569C=
c.1042C= (p.Arg348=)
c.853C= (p.Arg285=)
n.568C=
c.922+18C= (n.922+18C=)
c.937C= (p.Arg313=)
19g.41422715C>GCA406013439BCKDHAc.940C>G (p.Arg314Gly)
c.874C>G (p.Arg292Gly)
n.569C>G
c.1042C>G (p.Arg348Gly)
c.853C>G (p.Arg285Gly)
n.568C>G
c.922+18C>G (n.922+18C>G)
c.937C>G (p.Arg313Gly)
19g.41422715C>TCA354952BCKDHAc.940C>T (p.Arg314Ter)
c.874C>T (p.Arg292Ter)
n.569C>T
c.1042C>T (p.Arg348Ter)
c.853C>T (p.Arg285Ter)
n.568C>T
c.922+18C>T (n.922+18C>T)
c.937C>T (p.Arg313Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422716G>ACA9461306BCKDHAc.941G>A (p.Arg314Gln)
c.875G>A (p.Arg292Gln)
n.570G>A
c.1043G>A (p.Arg348Gln)
c.854G>A (p.Arg285Gln)
n.569G>A
c.922+19G>A (n.922+19G>A)
c.938G>A (p.Arg313Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422716G>CCA406013441BCKDHAc.941G>C (p.Arg314Pro)
c.875G>C (p.Arg292Pro)
n.570G>C
c.1043G>C (p.Arg348Pro)
c.854G>C (p.Arg285Pro)
n.569G>C
c.922+19G>C (n.922+19G>C)
c.938G>C (p.Arg313Pro)
19g.41422716G=CA2336459242BCKDHAc.941G= (p.Arg314=)
c.875G= (p.Arg292=)
n.570G=
c.1043G= (p.Arg348=)
c.854G= (p.Arg285=)
n.569G=
c.922+19G= (n.922+19G=)
c.938G= (p.Arg313=)
19g.41422716G>TCA406013440BCKDHAc.941G>T (p.Arg314Leu)
c.875G>T (p.Arg292Leu)
n.570G>T
c.1043G>T (p.Arg348Leu)
c.854G>T (p.Arg285Leu)
n.569G>T
c.922+19G>T (n.922+19G>T)
c.938G>T (p.Arg313Leu)
19g.41422718_41422736dupCA2336459241BCKDHAc.943_961dup (p.Asn321ThrfsTer26)
c.877_895dup (p.Asn299ThrfsTer26)
n.572_590dup
c.1045_1063dup (p.Asn355ThrfsTer26)
c.856_874dup (p.Asn292ThrfsTer26)
c.922+21_922+39dup (n.922+21_922+39dup)
c.940_958dup (p.Asn320ThrfsTer26)
 dbSNP
19g.41422717A>CCA507690736BCKDHAc.942A>C (p.Arg314=)
c.876A>C (p.Arg292=)
n.571A>C
c.1044A>C (p.Arg348=)
c.855A>C (p.Arg285=)
n.570A>C
c.922+20A>C (n.922+20A>C)
c.939A>C (p.Arg313=)
19g.41422717A>GCA507690737BCKDHAc.942A>G (p.Arg314=)
c.876A>G (p.Arg292=)
n.571A>G
c.1044A>G (p.Arg348=)
c.855A>G (p.Arg285=)
n.570A>G
c.922+20A>G (n.922+20A>G)
c.939A>G (p.Arg313=)
19g.41422717A>TCA507690738BCKDHAc.942A>T (p.Arg314=)
c.876A>T (p.Arg292=)
n.571A>T
c.1044A>T (p.Arg348=)
c.855A>T (p.Arg285=)
n.570A>T
c.922+20A>T (n.922+20A>T)
c.939A>T (p.Arg313=)
19g.41422718C>ACA507690739BCKDHAc.943C>A (p.Arg315=)
c.877C>A (p.Arg293=)
n.572C>A
c.1045C>A (p.Arg349=)
c.856C>A (p.Arg286=)
n.571C>A
c.922+21C>A (n.922+21C>A)
c.940C>A (p.Arg314=)
19g.41422718C=CA2336459243BCKDHAc.943C= (p.Arg315=)
c.877C= (p.Arg293=)
n.572C=
c.1045C= (p.Arg349=)
c.856C= (p.Arg286=)
n.571C=
c.922+21C= (n.922+21C=)
c.940C= (p.Arg314=)
19g.41422718C>GCA406013442BCKDHAc.943C>G (p.Arg315Gly)
c.877C>G (p.Arg293Gly)
n.572C>G
c.1045C>G (p.Arg349Gly)
c.856C>G (p.Arg286Gly)
n.571C>G
c.922+21C>G (n.922+21C>G)
c.940C>G (p.Arg314Gly)
19g.41422718C>TCA9461307BCKDHAc.943C>T (p.Arg315Trp)
c.877C>T (p.Arg293Trp)
n.572C>T
c.1045C>T (p.Arg349Trp)
c.856C>T (p.Arg286Trp)
n.571C>T
c.922+21C>T (n.922+21C>T)
c.940C>T (p.Arg314Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422719G>ACA308524844BCKDHAc.944G>A (p.Arg315Gln)
c.878G>A (p.Arg293Gln)
n.573G>A
c.1046G>A (p.Arg349Gln)
c.857G>A (p.Arg286Gln)
n.572G>A
c.922+22G>A (n.922+22G>A)
c.941G>A (p.Arg314Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422719G>CCA406013443BCKDHAc.944G>C (p.Arg315Pro)
c.878G>C (p.Arg293Pro)
n.573G>C
c.1046G>C (p.Arg349Pro)
c.857G>C (p.Arg286Pro)
n.572G>C
c.922+22G>C (n.922+22G>C)
c.941G>C (p.Arg314Pro)
19g.41422719G=CA2336459244BCKDHAc.944G= (p.Arg315=)
c.878G= (p.Arg293=)
n.573G=
c.1046G= (p.Arg349=)
c.857G= (p.Arg286=)
n.572G=
c.922+22G= (n.922+22G=)
c.941G= (p.Arg314=)
19g.41422719G>TCA406013444BCKDHAc.944G>T (p.Arg315Leu)
c.878G>T (p.Arg293Leu)
n.573G>T
c.1046G>T (p.Arg349Leu)
c.857G>T (p.Arg286Leu)
n.572G>T
c.922+22G>T (n.922+22G>T)
c.941G>T (p.Arg314Leu)
19g.41422722_41422731delCA2695228768BCKDHAc.947_956del (p.Arg316GlnfsTer11)
c.881_890del (p.Arg294GlnfsTer11)
n.576_585del
c.1049_1058del (p.Arg350GlnfsTer11)
c.860_869del (p.Arg287GlnfsTer11)
n.575_584del
c.922+25_922+34del (n.922+25_922+34del)
c.944_953del (p.Arg315GlnfsTer11)
19g.41422720G>ACA507690740BCKDHAc.945G>A (p.Arg315=)
c.879G>A (p.Arg293=)
n.574G>A
c.1047G>A (p.Arg349=)
c.858G>A (p.Arg286=)
n.573G>A
c.922+23G>A (n.922+23G>A)
c.942G>A (p.Arg314=)
19g.41422720G>CCA507690741BCKDHAc.945G>C (p.Arg315=)
c.879G>C (p.Arg293=)
n.574G>C
c.1047G>C (p.Arg349=)
c.858G>C (p.Arg286=)
n.573G>C
c.922+23G>C (n.922+23G>C)
c.942G>C (p.Arg314=)
19g.41422720G>TCA507690742BCKDHAc.945G>T (p.Arg315=)
c.879G>T (p.Arg293=)
n.574G>T
c.1047G>T (p.Arg349=)
c.858G>T (p.Arg286=)
n.573G>T
c.922+23G>T (n.922+23G>T)
c.942G>T (p.Arg314=)
19g.41422721C>ACA507690743BCKDHAc.946C>A (p.Arg316=)
c.880C>A (p.Arg294=)
n.575C>A
c.1048C>A (p.Arg350=)
c.859C>A (p.Arg287=)
n.574C>A
c.922+24C>A (n.922+24C>A)
c.943C>A (p.Arg315=)
19g.41422721C=CA2336459245BCKDHAc.946C= (p.Arg316=)
c.880C= (p.Arg294=)
n.575C=
c.1048C= (p.Arg350=)
c.859C= (p.Arg287=)
n.574C=
c.922+24C= (n.922+24C=)
c.943C= (p.Arg315=)
19g.41422721C>GCA406013445BCKDHAc.946C>G (p.Arg316Gly)
c.880C>G (p.Arg294Gly)
n.575C>G
c.1048C>G (p.Arg350Gly)
c.859C>G (p.Arg287Gly)
n.574C>G
c.922+24C>G (n.922+24C>G)
c.943C>G (p.Arg315Gly)
19g.41422721C>TCA9461308BCKDHAc.946C>T (p.Arg316Trp)
c.880C>T (p.Arg294Trp)
n.575C>T
c.1048C>T (p.Arg350Trp)
c.859C>T (p.Arg287Trp)
n.574C>T
c.922+24C>T (n.922+24C>T)
c.943C>T (p.Arg315Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422722G>ACA406013446BCKDHAc.947G>A (p.Arg316Gln)
c.881G>A (p.Arg294Gln)
n.576G>A
c.1049G>A (p.Arg350Gln)
c.860G>A (p.Arg287Gln)
n.575G>A
c.922+25G>A (n.922+25G>A)
c.944G>A (p.Arg315Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422722G>CCA406013447BCKDHAc.947G>C (p.Arg316Pro)
c.881G>C (p.Arg294Pro)
n.576G>C
c.1049G>C (p.Arg350Pro)
c.860G>C (p.Arg287Pro)
n.575G>C
c.922+25G>C (n.922+25G>C)
c.944G>C (p.Arg315Pro)
19g.41422722G=CA2336459246BCKDHAc.947G= (p.Arg316=)
c.881G= (p.Arg294=)
n.576G=
c.1049G= (p.Arg350=)
c.860G= (p.Arg287=)
n.575G=
c.922+25G= (n.922+25G=)
c.944G= (p.Arg315=)
19g.41422722G>TCA308524861BCKDHAc.947G>T (p.Arg316Leu)
c.881G>T (p.Arg294Leu)
n.576G>T
c.1049G>T (p.Arg350Leu)
c.860G>T (p.Arg287Leu)
n.575G>T
c.922+25G>T (n.922+25G>T)
c.944G>T (p.Arg315Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422723G>ACA507690744BCKDHAc.948G>A (p.Arg316=)
c.882G>A (p.Arg294=)
n.577G>A
c.1050G>A (p.Arg350=)
c.861G>A (p.Arg287=)
n.576G>A
c.922+26G>A (n.922+26G>A)
c.945G>A (p.Arg315=)
19g.41422723G>CCA507690745BCKDHAc.948G>C (p.Arg316=)
c.882G>C (p.Arg294=)
n.577G>C
c.1050G>C (p.Arg350=)
c.861G>C (p.Arg287=)
n.576G>C
c.922+26G>C (n.922+26G>C)
c.945G>C (p.Arg315=)
19g.41422723G=CA2336459247BCKDHAc.948G= (p.Arg316=)
c.882G= (p.Arg294=)
n.577G=
c.1050G= (p.Arg350=)
c.861G= (p.Arg287=)
n.576G=
c.922+26G= (n.922+26G=)
c.945G= (p.Arg315=)
19g.41422723G>TCA308524875BCKDHAc.948G>T (p.Arg316=)
c.882G>T (p.Arg294=)
n.577G>T
c.1050G>T (p.Arg350=)
c.861G>T (p.Arg287=)
n.576G>T
c.922+26G>T (n.922+26G>T)
c.945G>T (p.Arg315=)
 dbSNP
19g.41422724G>ACA406013448BCKDHAc.949G>A (p.Ala317Thr)
c.883G>A (p.Ala295Thr)
n.578G>A
c.1051G>A (p.Ala351Thr)
c.862G>A (p.Ala288Thr)
n.577G>A
c.922+27G>A (n.922+27G>A)
c.946G>A (p.Ala316Thr)
19g.41422724G>CCA406013449BCKDHAc.949G>C (p.Ala317Pro)
c.883G>C (p.Ala295Pro)
n.578G>C
c.1051G>C (p.Ala351Pro)
c.862G>C (p.Ala288Pro)
n.577G>C
c.922+27G>C (n.922+27G>C)
c.946G>C (p.Ala316Pro)
19g.41422724G=CA2336459248BCKDHAc.949G= (p.Ala317=)
c.883G= (p.Ala295=)
n.578G=
c.1051G= (p.Ala351=)
c.862G= (p.Ala288=)
n.577G=
c.922+27G= (n.922+27G=)
c.946G= (p.Ala316=)
19g.41422724G>TCA406013450BCKDHAc.949G>T (p.Ala317Ser)
c.883G>T (p.Ala295Ser)
n.578G>T
c.1051G>T (p.Ala351Ser)
c.862G>T (p.Ala288Ser)
n.577G>T
c.922+27G>T (n.922+27G>T)
c.946G>T (p.Ala316Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422725C>ACA406013452BCKDHAc.950C>A (p.Ala317Asp)
c.884C>A (p.Ala295Asp)
n.579C>A
c.1052C>A (p.Ala351Asp)
c.863C>A (p.Ala288Asp)
n.578C>A
c.922+28C>A (n.922+28C>A)
c.947C>A (p.Ala316Asp)
19g.41422725C=CA2336459249BCKDHAc.950C= (p.Ala317=)
c.884C= (p.Ala295=)
n.579C=
c.1052C= (p.Ala351=)
c.863C= (p.Ala288=)
n.578C=
c.922+28C= (n.922+28C=)
c.947C= (p.Ala316=)
19g.41422725C>GCA308524880BCKDHAc.950C>G (p.Ala317Gly)
c.884C>G (p.Ala295Gly)
n.579C>G
c.1052C>G (p.Ala351Gly)
c.863C>G (p.Ala288Gly)
n.578C>G
c.922+28C>G (n.922+28C>G)
c.947C>G (p.Ala316Gly)
 dbSNP gnomAD v4
19g.41422725C>TCA406013451BCKDHAc.950C>T (p.Ala317Val)
c.884C>T (p.Ala295Val)
n.579C>T
c.1052C>T (p.Ala351Val)
c.863C>T (p.Ala288Val)
n.578C>T
c.922+28C>T (n.922+28C>T)
c.947C>T (p.Ala316Val)
19g.41422726T>ACA507690746BCKDHAc.951T>A (p.Ala317=)
c.885T>A (p.Ala295=)
n.580T>A
c.1053T>A (p.Ala351=)
c.864T>A (p.Ala288=)
n.579T>A
c.922+29T>A (n.922+29T>A)
c.948T>A (p.Ala316=)
19g.41422726T>CCA507690747BCKDHAc.951T>C (p.Ala317=)
c.885T>C (p.Ala295=)
n.580T>C
c.1053T>C (p.Ala351=)
c.864T>C (p.Ala288=)
n.579T>C
c.922+29T>C (n.922+29T>C)
c.948T>C (p.Ala316=)
19g.41422726T>GCA507690748BCKDHAc.951T>G (p.Ala317=)
c.885T>G (p.Ala295=)
n.580T>G
c.1053T>G (p.Ala351=)
c.864T>G (p.Ala288=)
n.579T>G
c.922+29T>G (n.922+29T>G)
c.948T>G (p.Ala316=)
19g.41422727G>ACA406013453BCKDHAc.952G>A (p.Val318Met)
c.886G>A (p.Val296Met)
n.581G>A
c.1054G>A (p.Val352Met)
c.865G>A (p.Val289Met)
n.580G>A
c.922+30G>A (n.922+30G>A)
c.949G>A (p.Val317Met)
 gnomAD v4
19g.41422727G>CCA406013454BCKDHAc.952G>C (p.Val318Leu)
c.886G>C (p.Val296Leu)
n.581G>C
c.1054G>C (p.Val352Leu)
c.865G>C (p.Val289Leu)
n.580G>C
c.922+30G>C (n.922+30G>C)
c.949G>C (p.Val317Leu)
19g.41422727G>TCA406013455BCKDHAc.952G>T (p.Val318Leu)
c.886G>T (p.Val296Leu)
n.581G>T
c.1054G>T (p.Val352Leu)
c.865G>T (p.Val289Leu)
n.580G>T
c.922+30G>T (n.922+30G>T)
c.949G>T (p.Val317Leu)
19g.41422728T>ACA406013456BCKDHAc.953T>A (p.Val318Glu)
c.887T>A (p.Val296Glu)
n.582T>A
c.1055T>A (p.Val352Glu)
c.866T>A (p.Val289Glu)
n.581T>A
c.922+31T>A (n.922+31T>A)
c.950T>A (p.Val317Glu)
19g.41422728T>CCA406013457BCKDHAc.953T>C (p.Val318Ala)
c.887T>C (p.Val296Ala)
n.582T>C
c.1055T>C (p.Val352Ala)
c.866T>C (p.Val289Ala)
n.581T>C
c.922+31T>C (n.922+31T>C)
c.950T>C (p.Val317Ala)
19g.41422728T>GCA406013458BCKDHAc.953T>G (p.Val318Gly)
c.887T>G (p.Val296Gly)
n.582T>G
c.1055T>G (p.Val352Gly)
c.866T>G (p.Val289Gly)
n.581T>G
c.922+31T>G (n.922+31T>G)
c.950T>G (p.Val317Gly)
19g.41422729G>ACA507690750BCKDHAc.954G>A (p.Val318=)
c.888G>A (p.Val296=)
n.583G>A
c.1056G>A (p.Val352=)
c.867G>A (p.Val289=)
n.582G>A
c.922+32G>A (n.922+32G>A)
c.951G>A (p.Val317=)
19g.41422729G>CCA507690751BCKDHAc.954G>C (p.Val318=)
c.888G>C (p.Val296=)
n.583G>C
c.1056G>C (p.Val352=)
c.867G>C (p.Val289=)
n.582G>C
c.922+32G>C (n.922+32G>C)
c.951G>C (p.Val317=)
19g.41422729G>TCA507690749BCKDHAc.954G>T (p.Val318=)
c.888G>T (p.Val296=)
n.583G>T
c.1056G>T (p.Val352=)
c.867G>T (p.Val289=)
n.582G>T
c.922+32G>T (n.922+32G>T)
c.951G>T (p.Val317=)
19g.41422730delCA2580097305BCKDHAc.955del (p.Ala319GlnfsTer11)
c.889del (p.Ala297GlnfsTer11)
n.584del
c.1057del (p.Ala353GlnfsTer11)
c.868del (p.Ala290GlnfsTer11)
n.583del
c.922+33del (n.922+33del)
c.952del (p.Ala318GlnfsTer11)
 ClinVar
19g.41422730G>ACA406013459BCKDHAc.955G>A (p.Ala319Thr)
c.889G>A (p.Ala297Thr)
n.584G>A
c.1057G>A (p.Ala353Thr)
c.868G>A (p.Ala290Thr)
n.583G>A
c.922+33G>A (n.922+33G>A)
c.952G>A (p.Ala318Thr)
 dbSNP gnomAD v2
19g.41422730G>CCA406013460BCKDHAc.955G>C (p.Ala319Pro)
c.889G>C (p.Ala297Pro)
n.584G>C
c.1057G>C (p.Ala353Pro)
c.868G>C (p.Ala290Pro)
n.583G>C
c.922+33G>C (n.922+33G>C)
c.952G>C (p.Ala318Pro)
19g.41422730G=CA2336459250BCKDHAc.955G= (p.Ala319=)
c.889G= (p.Ala297=)
n.584G=
c.1057G= (p.Ala353=)
c.868G= (p.Ala290=)
n.583G=
c.922+33G= (n.922+33G=)
c.952G= (p.Ala318=)
19g.41422730G>TCA406013461BCKDHAc.955G>T (p.Ala319Ser)
c.889G>T (p.Ala297Ser)
n.584G>T
c.1057G>T (p.Ala353Ser)
c.868G>T (p.Ala290Ser)
n.583G>T
c.922+33G>T (n.922+33G>T)
c.952G>T (p.Ala318Ser)
19g.41422731C>ACA406013462BCKDHAc.956C>A (p.Ala319Glu)
c.890C>A (p.Ala297Glu)
n.585C>A
c.1058C>A (p.Ala353Glu)
c.869C>A (p.Ala290Glu)
n.584C>A
c.922+34C>A (n.922+34C>A)
c.953C>A (p.Ala318Glu)
19g.41422731C>GCA406013463BCKDHAc.956C>G (p.Ala319Gly)
c.890C>G (p.Ala297Gly)
n.585C>G
c.1058C>G (p.Ala353Gly)
c.869C>G (p.Ala290Gly)
n.584C>G
c.922+34C>G (n.922+34C>G)
c.953C>G (p.Ala318Gly)
19g.41422731C>TCA406013464BCKDHAc.956C>T (p.Ala319Val)
c.890C>T (p.Ala297Val)
n.585C>T
c.1058C>T (p.Ala353Val)
c.869C>T (p.Ala290Val)
n.584C>T
c.922+34C>T (n.922+34C>T)
c.953C>T (p.Ala318Val)
19g.41422732A>CCA507690752BCKDHAc.957A>C (p.Ala319=)
c.891A>C (p.Ala297=)
n.586A>C
c.1059A>C (p.Ala353=)
c.870A>C (p.Ala290=)
n.585A>C
c.922+35A>C (n.922+35A>C)
c.954A>C (p.Ala318=)
19g.41422732A>GCA507690753BCKDHAc.957A>G (p.Ala319=)
c.891A>G (p.Ala297=)
n.586A>G
c.1059A>G (p.Ala353=)
c.870A>G (p.Ala290=)
n.585A>G
c.922+35A>G (n.922+35A>G)
c.954A>G (p.Ala318=)
19g.41422732A>TCA507690754BCKDHAc.957A>T (p.Ala319=)
c.891A>T (p.Ala297=)
n.586A>T
c.1059A>T (p.Ala353=)
c.870A>T (p.Ala290=)
n.585A>T
c.922+35A>T (n.922+35A>T)
c.954A>T (p.Ala318=)
19g.41422733G>ACA9461309BCKDHAc.958G>A (p.Glu320Lys)
c.892G>A (p.Glu298Lys)
n.587G>A
c.1060G>A (p.Glu354Lys)
c.871G>A (p.Glu291Lys)
n.586G>A
c.922+36G>A (n.922+36G>A)
c.955G>A (p.Glu319Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422733G>CCA406013466BCKDHAc.958G>C (p.Glu320Gln)
c.892G>C (p.Glu298Gln)
n.587G>C
c.1060G>C (p.Glu354Gln)
c.871G>C (p.Glu291Gln)
n.586G>C
c.922+36G>C (n.922+36G>C)
c.955G>C (p.Glu319Gln)
19g.41422733G=CA2336459251BCKDHAc.958G= (p.Glu320=)
c.892G= (p.Glu298=)
n.587G=
c.1060G= (p.Glu354=)
c.871G= (p.Glu291=)
n.586G=
c.922+36G= (n.922+36G=)
c.955G= (p.Glu319=)
19g.41422733G>TCA406013465BCKDHAc.958G>T (p.Glu320Ter)
c.892G>T (p.Glu298Ter)
n.587G>T
c.1060G>T (p.Glu354Ter)
c.871G>T (p.Glu291Ter)
n.586G>T
c.922+36G>T (n.922+36G>T)
c.955G>T (p.Glu319Ter)
 gnomAD v4
19g.41422734A>CCA406013469BCKDHAc.959A>C (p.Glu320Ala)
c.893A>C (p.Glu298Ala)
n.588A>C
c.1061A>C (p.Glu354Ala)
c.872A>C (p.Glu291Ala)
n.587A>C
c.922+37A>C (n.922+37A>C)
c.956A>C (p.Glu319Ala)
19g.41422734A>GCA406013467BCKDHAc.959A>G (p.Glu320Gly)
c.893A>G (p.Glu298Gly)
n.588A>G
c.1061A>G (p.Glu354Gly)
c.872A>G (p.Glu291Gly)
n.587A>G
c.922+37A>G (n.922+37A>G)
c.956A>G (p.Glu319Gly)
19g.41422734A>TCA406013468BCKDHAc.959A>T (p.Glu320Val)
c.893A>T (p.Glu298Val)
n.588A>T
c.1061A>T (p.Glu354Val)
c.872A>T (p.Glu291Val)
n.587A>T
c.922+37A>T (n.922+37A>T)
c.956A>T (p.Glu319Val)
19g.41422735G>ACA507690755BCKDHAc.960G>A (p.Glu320=)
c.894G>A (p.Glu298=)
n.589G>A
c.1062G>A (p.Glu354=)
c.873G>A (p.Glu291=)
c.922+38G>A (n.922+38G>A)
c.957G>A (p.Glu319=)
 gnomAD v4
19g.41422735G>CCA406013470BCKDHAc.960G>C (p.Glu320Asp)
c.894G>C (p.Glu298Asp)
n.589G>C
c.1062G>C (p.Glu354Asp)
c.873G>C (p.Glu291Asp)
c.922+38G>C (n.922+38G>C)
c.957G>C (p.Glu319Asp)
 dbSNP
19g.41422735G=CA2336459252BCKDHAc.960G= (p.Glu320=)
c.894G= (p.Glu298=)
n.589G=
c.1062G= (p.Glu354=)
c.873G= (p.Glu291=)
c.922+38G= (n.922+38G=)
c.957G= (p.Glu319=)
19g.41422735G>TCA406013471BCKDHAc.960G>T (p.Glu320Asp)
c.894G>T (p.Glu298Asp)
n.589G>T
c.1062G>T (p.Glu354Asp)
c.873G>T (p.Glu291Asp)
c.922+38G>T (n.922+38G>T)
c.957G>T (p.Glu319Asp)
19g.41422736A>CCA406013472BCKDHAc.961A>C (p.Asn321His)
c.895A>C (p.Asn299His)
n.590A>C
c.1063A>C (p.Asn355His)
c.874A>C (p.Asn292His)
c.922+39A>C (n.922+39A>C)
c.958A>C (p.Asn320His)
19g.41422736A>GCA406013473BCKDHAc.961A>G (p.Asn321Asp)
c.895A>G (p.Asn299Asp)
n.590A>G
c.1063A>G (p.Asn355Asp)
c.874A>G (p.Asn292Asp)
c.922+39A>G (n.922+39A>G)
c.958A>G (p.Asn320Asp)
19g.41422736A>TCA406013474BCKDHAc.961A>T (p.Asn321Tyr)
c.895A>T (p.Asn299Tyr)
n.590A>T
c.1063A>T (p.Asn355Tyr)
c.874A>T (p.Asn292Tyr)
c.922+39A>T (n.922+39A>T)
c.958A>T (p.Asn320Tyr)
19g.41422737A>CCA406013475BCKDHAc.962A>C (p.Asn321Thr)
c.896A>C (p.Asn299Thr)
n.591A>C
c.1064A>C (p.Asn355Thr)
c.875A>C (p.Asn292Thr)
c.922+40A>C (n.922+40A>C)
c.959A>C (p.Asn320Thr)
19g.41422737A>GCA406013476BCKDHAc.962A>G (p.Asn321Ser)
c.896A>G (p.Asn299Ser)
n.591A>G
c.1064A>G (p.Asn355Ser)
c.875A>G (p.Asn292Ser)
c.922+40A>G (n.922+40A>G)
c.959A>G (p.Asn320Ser)
19g.41422737A>TCA406013477BCKDHAc.962A>T (p.Asn321Ile)
c.896A>T (p.Asn299Ile)
n.591A>T
c.1064A>T (p.Asn355Ile)
c.875A>T (p.Asn292Ile)
c.922+40A>T (n.922+40A>T)
c.959A>T (p.Asn320Ile)
19g.41422738C>ACA406013478BCKDHAc.963C>A (p.Asn321Lys)
c.897C>A (p.Asn299Lys)
n.592C>A
c.1065C>A (p.Asn355Lys)
c.876C>A (p.Asn292Lys)
c.922+41C>A (n.922+41C>A)
c.960C>A (p.Asn320Lys)
19g.41422738C>GCA406013479BCKDHAc.963C>G (p.Asn321Lys)
c.897C>G (p.Asn299Lys)
n.592C>G
c.1065C>G (p.Asn355Lys)
c.876C>G (p.Asn292Lys)
c.922+41C>G (n.922+41C>G)
c.960C>G (p.Asn320Lys)
19g.41422738C>TCA507690756BCKDHAc.963C>T (p.Asn321=)
c.897C>T (p.Asn299=)
n.592C>T
c.1065C>T (p.Asn355=)
c.876C>T (p.Asn292=)
c.922+41C>T (n.922+41C>T)
c.960C>T (p.Asn320=)
 ClinVar dbSNP
19g.41422739C>ACA406013480BCKDHAc.964C>A (p.Gln322Lys)
c.898C>A (p.Gln300Lys)
n.593C>A
c.1066C>A (p.Gln356Lys)
c.877C>A (p.Gln293Lys)
c.922+42C>A (n.922+42C>A)
c.961C>A (p.Gln321Lys)
19g.41422739C=CA2336459253BCKDHAc.964C= (p.Gln322=)
c.898C= (p.Gln300=)
n.593C=
c.1066C= (p.Gln356=)
c.877C= (p.Gln293=)
c.922+42C= (n.922+42C=)
c.961C= (p.Gln321=)
19g.41422739C>GCA406013481BCKDHAc.964C>G (p.Gln322Glu)
c.898C>G (p.Gln300Glu)
n.593C>G
c.1066C>G (p.Gln356Glu)
c.877C>G (p.Gln293Glu)
c.922+42C>G (n.922+42C>G)
c.961C>G (p.Gln321Glu)
19g.41422739C>TCA221230BCKDHAc.964C>T (p.Gln322Ter)
c.898C>T (p.Gln300Ter)
n.593C>T
c.1066C>T (p.Gln356Ter)
c.877C>T (p.Gln293Ter)
c.922+42C>T (n.922+42C>T)
c.961C>T (p.Gln321Ter)
 ClinVar dbSNP gnomAD v4
19g.41422740A>CCA406013482BCKDHAc.965A>C (p.Gln322Pro)
c.899A>C (p.Gln300Pro)
n.594A>C
c.1067A>C (p.Gln356Pro)
c.878A>C (p.Gln293Pro)
c.922+43A>C (n.922+43A>C)
c.962A>C (p.Gln321Pro)
19g.41422740A>GCA406013483BCKDHAc.965A>G (p.Gln322Arg)
c.899A>G (p.Gln300Arg)
n.594A>G
c.1067A>G (p.Gln356Arg)
c.878A>G (p.Gln293Arg)
c.922+43A>G (n.922+43A>G)
c.962A>G (p.Gln321Arg)
19g.41422740A>TCA406013484BCKDHAc.965A>T (p.Gln322Leu)
c.899A>T (p.Gln300Leu)
n.594A>T
c.1067A>T (p.Gln356Leu)
c.878A>T (p.Gln293Leu)
c.922+43A>T (n.922+43A>T)
c.962A>T (p.Gln321Leu)
19g.41422741G>ACA507690757BCKDHAc.966G>A (p.Gln322=)
c.900G>A (p.Gln300=)
n.595G>A
c.1068G>A (p.Gln356=)
c.879G>A (p.Gln293=)
c.922+44G>A (n.922+44G>A)
c.963G>A (p.Gln321=)
 gnomAD v4
19g.41422741G>CCA406013485BCKDHAc.966G>C (p.Gln322His)
c.900G>C (p.Gln300His)
n.595G>C
c.1068G>C (p.Gln356His)
c.879G>C (p.Gln293His)
c.922+44G>C (n.922+44G>C)
c.963G>C (p.Gln321His)
 dbSNP gnomAD v3 gnomAD v4
19g.41422741G=CA2336459254BCKDHAc.966G= (p.Gln322=)
c.900G= (p.Gln300=)
n.595G=
c.1068G= (p.Gln356=)
c.879G= (p.Gln293=)
c.922+44G= (n.922+44G=)
c.963G= (p.Gln321=)
19g.41422741G>TCA406013486BCKDHAc.966G>T (p.Gln322His)
c.900G>T (p.Gln300His)
n.595G>T
c.1068G>T (p.Gln356His)
c.879G>T (p.Gln293His)
c.922+44G>T (n.922+44G>T)
c.963G>T (p.Gln321His)
19g.41422742C>ACA406013489BCKDHAc.967C>A (p.Pro323Thr)
c.901C>A (p.Pro301Thr)
n.596C>A
c.1069C>A (p.Pro357Thr)
c.880C>A (p.Pro294Thr)
c.922+45C>A (n.922+45C>A)
c.964C>A (p.Pro322Thr)
 gnomAD v4
19g.41422742C>GCA406013487BCKDHAc.967C>G (p.Pro323Ala)
c.901C>G (p.Pro301Ala)
n.596C>G
c.1069C>G (p.Pro357Ala)
c.880C>G (p.Pro294Ala)
c.922+45C>G (n.922+45C>G)
c.964C>G (p.Pro322Ala)
19g.41422742C>TCA406013488BCKDHAc.967C>T (p.Pro323Ser)
c.901C>T (p.Pro301Ser)
n.596C>T
c.1069C>T (p.Pro357Ser)
c.880C>T (p.Pro294Ser)
c.922+45C>T (n.922+45C>T)
c.964C>T (p.Pro322Ser)
19g.41422743C>ACA308524904BCKDHAc.968C>A (p.Pro323His)
c.902C>A (p.Pro301His)
n.597C>A
c.1070C>A (p.Pro357His)
c.881C>A (p.Pro294His)
c.922+46C>A (n.922+46C>A)
c.965C>A (p.Pro322His)
 ClinVar dbSNP
19g.41422743C=CA2336459255BCKDHAc.968C= (p.Pro323=)
c.902C= (p.Pro301=)
n.597C=
c.1070C= (p.Pro357=)
c.881C= (p.Pro294=)
c.922+46C= (n.922+46C=)
c.965C= (p.Pro322=)
19g.41422743C>GCA406013490BCKDHAc.968C>G (p.Pro323Arg)
c.902C>G (p.Pro301Arg)
n.597C>G
c.1070C>G (p.Pro357Arg)
c.881C>G (p.Pro294Arg)
c.922+46C>G (n.922+46C>G)
c.965C>G (p.Pro322Arg)
 ClinVar dbSNP
19g.41422743C>TCA406013491BCKDHAc.968C>T (p.Pro323Leu)
c.902C>T (p.Pro301Leu)
n.597C>T
c.1070C>T (p.Pro357Leu)
c.881C>T (p.Pro294Leu)
c.922+46C>T (n.922+46C>T)
c.965C>T (p.Pro322Leu)
19g.41422744C>ACA507690758BCKDHAc.969C>A (p.Pro323=)
c.903C>A (p.Pro301=)
n.598C>A
c.1071C>A (p.Pro357=)
c.882C>A (p.Pro294=)
c.922+47C>A (n.922+47C>A)
c.966C>A (p.Pro322=)
19g.41422744C=CA2336459256BCKDHAc.969C= (p.Pro323=)
c.903C= (p.Pro301=)
n.598C=
c.1071C= (p.Pro357=)
c.882C= (p.Pro294=)
c.922+47C= (n.922+47C=)
c.966C= (p.Pro322=)
19g.41422744C>GCA507690759BCKDHAc.969C>G (p.Pro323=)
c.903C>G (p.Pro301=)
n.598C>G
c.1071C>G (p.Pro357=)
c.882C>G (p.Pro294=)
c.922+47C>G (n.922+47C>G)
c.966C>G (p.Pro322=)
19g.41422744C>TCA507690760BCKDHAc.969C>T (p.Pro323=)
c.903C>T (p.Pro301=)
n.598C>T
c.1071C>T (p.Pro357=)
c.882C>T (p.Pro294=)
c.922+47C>T (n.922+47C>T)
c.966C>T (p.Pro322=)
 dbSNP COSMIC
19g.41422745T>ACA406013492BCKDHAc.970T>A (p.Phe324Ile)
c.904T>A (p.Phe302Ile)
n.599T>A
c.1072T>A (p.Phe358Ile)
c.883T>A (p.Phe295Ile)
c.922+48T>A (n.922+48T>A)
c.967T>A (p.Phe323Ile)
19g.41422745T>CCA406013493BCKDHAc.970T>C (p.Phe324Leu)
c.904T>C (p.Phe302Leu)
n.599T>C
c.1072T>C (p.Phe358Leu)
c.883T>C (p.Phe295Leu)
c.922+48T>C (n.922+48T>C)
c.967T>C (p.Phe323Leu)
19g.41422745T>GCA406013494BCKDHAc.970T>G (p.Phe324Val)
c.904T>G (p.Phe302Val)
n.599T>G
c.1072T>G (p.Phe358Val)
c.883T>G (p.Phe295Val)
c.922+48T>G (n.922+48T>G)
c.967T>G (p.Phe323Val)
 gnomAD v4
19g.41422746T>ACA406013497BCKDHAc.971T>A (p.Phe324Tyr)
c.905T>A (p.Phe302Tyr)
n.600T>A
c.1073T>A (p.Phe358Tyr)
c.884T>A (p.Phe295Tyr)
c.922+49T>A (n.922+49T>A)
c.968T>A (p.Phe323Tyr)
19g.41422746T>CCA406013496BCKDHAc.971T>C (p.Phe324Ser)
c.905T>C (p.Phe302Ser)
n.600T>C
c.1073T>C (p.Phe358Ser)
c.884T>C (p.Phe295Ser)
c.922+49T>C (n.922+49T>C)
c.968T>C (p.Phe323Ser)
19g.41422746T>GCA406013495BCKDHAc.971T>G (p.Phe324Cys)
c.905T>G (p.Phe302Cys)
n.600T>G
c.1073T>G (p.Phe358Cys)
c.884T>G (p.Phe295Cys)
c.922+49T>G (n.922+49T>G)
c.968T>G (p.Phe323Cys)
19g.41422746_41422747delinsTCCA2336459257BCKDHAc.971_972delinsTC (p.Phe324=)
c.905_906delinsTC (p.Phe302=)
n.600_601delinsTC
c.1073_1074delinsTC (p.Phe358=)
c.884_885delinsTC (p.Phe295=)
c.922+49_922+50delinsTC (n.922+49_922+50delinsTC)
c.968_969delinsTC (p.Phe323=)
19g.41422747C>ACA406013498BCKDHAc.972C>A (p.Phe324Leu)
c.906C>A (p.Phe302Leu)
n.601C>A
c.1074C>A (p.Phe358Leu)
c.885C>A (p.Phe295Leu)
c.922+50C>A (n.922+50C>A)
c.969C>A (p.Phe323Leu)
19g.41422747C=CA2336459258BCKDHAc.972C= (p.Phe324=)
c.906C= (p.Phe302=)
n.601C=
c.1074C= (p.Phe358=)
c.885C= (p.Phe295=)
c.922+50C= (n.922+50C=)
c.969C= (p.Phe323=)
19g.41422747C>GCA406013499BCKDHAc.972C>G (p.Phe324Leu)
c.906C>G (p.Phe302Leu)
n.601C>G
c.1074C>G (p.Phe358Leu)
c.885C>G (p.Phe295Leu)
c.922+50C>G (n.922+50C>G)
c.969C>G (p.Phe323Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.41422747C>TCA146877BCKDHAc.972C>T (p.Phe324=)
c.906C>T (p.Phe302=)
n.601C>T
c.1074C>T (p.Phe358=)
c.885C>T (p.Phe295=)
c.922+50C>T (n.922+50C>T)
c.969C>T (p.Phe323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422748delCA308524905BCKDHAc.973del (p.Leu325SerfsTer5)
c.907del (p.Leu303SerfsTer5)
n.602del
c.1075del (p.Leu359SerfsTer5)
c.886del (p.Leu296SerfsTer5)
c.922+51del (n.922+51del)
c.970del (p.Leu324SerfsTer5)
 dbSNP
19g.41422748C>ACA406013500BCKDHAc.973C>A (p.Leu325Ile)
c.907C>A (p.Leu303Ile)
n.602C>A
c.1075C>A (p.Leu359Ile)
c.886C>A (p.Leu296Ile)
c.922+51C>A (n.922+51C>A)
c.970C>A (p.Leu324Ile)
19g.41422748C=CA2336459259BCKDHAc.973C= (p.Leu325=)
c.907C= (p.Leu303=)
n.602C=
c.1075C= (p.Leu359=)
c.886C= (p.Leu296=)
c.922+51C= (n.922+51C=)
c.970C= (p.Leu324=)
19g.41422748C>GCA406013501BCKDHAc.973C>G (p.Leu325Val)
c.907C>G (p.Leu303Val)
n.602C>G
c.1075C>G (p.Leu359Val)
c.886C>G (p.Leu296Val)
c.922+51C>G (n.922+51C>G)
c.970C>G (p.Leu324Val)
19g.41422748C>TCA406013502BCKDHAc.973C>T (p.Leu325Phe)
c.907C>T (p.Leu303Phe)
n.602C>T
c.1075C>T (p.Leu359Phe)
c.886C>T (p.Leu296Phe)
c.922+51C>T (n.922+51C>T)
c.970C>T (p.Leu324Phe)
 ClinVar dbSNP gnomAD v4
19g.41422749T>ACA406013503BCKDHAc.974T>A (p.Leu325His)
c.908T>A (p.Leu303His)
n.603T>A
c.1076T>A (p.Leu359His)
c.887T>A (p.Leu296His)
c.922+52T>A (n.922+52T>A)
c.971T>A (p.Leu324His)
19g.41422749T>CCA406013504BCKDHAc.974T>C (p.Leu325Pro)
c.908T>C (p.Leu303Pro)
n.603T>C
c.1076T>C (p.Leu359Pro)
c.887T>C (p.Leu296Pro)
c.922+52T>C (n.922+52T>C)
c.971T>C (p.Leu324Pro)
19g.41422749T>GCA406013505BCKDHAc.974T>G (p.Leu325Arg)
c.908T>G (p.Leu303Arg)
n.603T>G
c.1076T>G (p.Leu359Arg)
c.887T>G (p.Leu296Arg)
c.922+52T>G (n.922+52T>G)
c.971T>G (p.Leu324Arg)
19g.41422750C>ACA507690762BCKDHAc.975C>A (p.Leu325=)
c.909C>A (p.Leu303=)
n.604C>A
c.1077C>A (p.Leu359=)
c.888C>A (p.Leu296=)
c.922+53C>A (n.922+53C>A)
c.972C>A (p.Leu324=)
19g.41422750C=CA2336459260BCKDHAc.975C= (p.Leu325=)
c.909C= (p.Leu303=)
n.604C=
c.1077C= (p.Leu359=)
c.888C= (p.Leu296=)
c.922+53C= (n.922+53C=)
c.972C= (p.Leu324=)
19g.41422750C>GCA507690761BCKDHAc.975C>G (p.Leu325=)
c.909C>G (p.Leu303=)
n.604C>G
c.1077C>G (p.Leu359=)
c.888C>G (p.Leu296=)
c.922+53C>G (n.922+53C>G)
c.972C>G (p.Leu324=)
19g.41422750C>TCA146879BCKDHAc.975C>T (p.Leu325=)
c.909C>T (p.Leu303=)
n.604C>T
c.1077C>T (p.Leu359=)
c.888C>T (p.Leu296=)
c.922+53C>T (n.922+53C>T)
c.972C>T (p.Leu324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422751A=CA2336459261BCKDHAc.976A= (p.Ile326=)
c.910A= (p.Ile304=)
n.605A=
c.1078A= (p.Ile360=)
c.889A= (p.Ile297=)
c.922+54A= (n.922+54A=)
c.973A= (p.Ile325=)
19g.41422751A>CCA406013506BCKDHAc.976A>C (p.Ile326Leu)
c.910A>C (p.Ile304Leu)
n.605A>C
c.1078A>C (p.Ile360Leu)
c.889A>C (p.Ile297Leu)
c.922+54A>C (n.922+54A>C)
c.973A>C (p.Ile325Leu)
 dbSNP
19g.41422751A>GCA9461310BCKDHAc.976A>G (p.Ile326Val)
c.910A>G (p.Ile304Val)
n.605A>G
c.1078A>G (p.Ile360Val)
c.889A>G (p.Ile297Val)
c.922+54A>G (n.922+54A>G)
c.973A>G (p.Ile325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422751A>TCA406013507BCKDHAc.976A>T (p.Ile326Phe)
c.910A>T (p.Ile304Phe)
n.605A>T
c.1078A>T (p.Ile360Phe)
c.889A>T (p.Ile297Phe)
c.922+54A>T (n.922+54A>T)
c.973A>T (p.Ile325Phe)
19g.41422752T>ACA406013508BCKDHAc.977T>A (p.Ile326Asn)
c.911T>A (p.Ile304Asn)
n.606T>A
c.1079T>A (p.Ile360Asn)
c.890T>A (p.Ile297Asn)
c.922+55T>A (n.922+55T>A)
c.974T>A (p.Ile325Asn)
19g.41422752T>CCA406013509BCKDHAc.977T>C (p.Ile326Thr)
c.911T>C (p.Ile304Thr)
n.606T>C
c.1079T>C (p.Ile360Thr)
c.890T>C (p.Ile297Thr)
c.922+55T>C (n.922+55T>C)
c.974T>C (p.Ile325Thr)
19g.41422752T>GCA406013510BCKDHAc.977T>G (p.Ile326Ser)
c.911T>G (p.Ile304Ser)
n.606T>G
c.1079T>G (p.Ile360Ser)
c.890T>G (p.Ile297Ser)
c.922+55T>G (n.922+55T>G)
c.974T>G (p.Ile325Ser)
19g.41422753C>ACA507690763BCKDHAc.978C>A (p.Ile326=)
c.912C>A (p.Ile304=)
n.607C>A
c.1080C>A (p.Ile360=)
c.891C>A (p.Ile297=)
c.922+56C>A (n.922+56C>A)
c.975C>A (p.Ile325=)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.41422753C=CA2336459262BCKDHAc.978C= (p.Ile326=)
c.912C= (p.Ile304=)
n.607C=
c.1080C= (p.Ile360=)
c.891C= (p.Ile297=)
c.922+56C= (n.922+56C=)
c.975C= (p.Ile325=)
19g.41422753C>GCA406013511BCKDHAc.978C>G (p.Ile326Met)
c.912C>G (p.Ile304Met)
n.607C>G
c.1080C>G (p.Ile360Met)
c.891C>G (p.Ile297Met)
c.922+56C>G (n.922+56C>G)
c.975C>G (p.Ile325Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422753C>TCA221232BCKDHAc.978C>T (p.Ile326=)
c.912C>T (p.Ile304=)
n.607C>T
c.1080C>T (p.Ile360=)
c.891C>T (p.Ile297=)
c.922+56C>T (n.922+56C>T)
c.975C>T (p.Ile325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422754G>ACA221234BCKDHAc.979G>A (p.Glu327Lys)
c.913G>A (p.Glu305Lys)
n.608G>A
c.1081G>A (p.Glu361Lys)
c.892G>A (p.Glu298Lys)
c.922+57G>A (n.922+57G>A)
c.976G>A (p.Glu326Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422754G>CCA406013512BCKDHAc.979G>C (p.Glu327Gln)
c.913G>C (p.Glu305Gln)
n.608G>C
c.1081G>C (p.Glu361Gln)
c.892G>C (p.Glu298Gln)
c.922+57G>C (n.922+57G>C)
c.976G>C (p.Glu326Gln)
 gnomAD v4
19g.41422754G=CA2336459263BCKDHAc.979G= (p.Glu327=)
c.913G= (p.Glu305=)
n.608G=
c.1081G= (p.Glu361=)
c.892G= (p.Glu298=)
c.922+57G= (n.922+57G=)
c.976G= (p.Glu326=)
19g.41422754G>TCA406013513BCKDHAc.979G>T (p.Glu327Ter)
c.913G>T (p.Glu305Ter)
n.608G>T
c.1081G>T (p.Glu361Ter)
c.892G>T (p.Glu298Ter)
c.922+57G>T (n.922+57G>T)
c.976G>T (p.Glu326Ter)
19g.41422755A>CCA406013514BCKDHAc.980A>C (p.Glu327Ala)
c.914A>C (p.Glu305Ala)
n.609A>C
c.1082A>C (p.Glu361Ala)
c.893A>C (p.Glu298Ala)
c.922+58A>C (n.922+58A>C)
c.977A>C (p.Glu326Ala)
19g.41422755A>GCA406013515BCKDHAc.980A>G (p.Glu327Gly)
c.914A>G (p.Glu305Gly)
n.609A>G
c.1082A>G (p.Glu361Gly)
c.893A>G (p.Glu298Gly)
c.922+58A>G (n.922+58A>G)
c.977A>G (p.Glu326Gly)
19g.41422755A>TCA406013516BCKDHAc.980A>T (p.Glu327Val)
c.914A>T (p.Glu305Val)
n.609A>T
c.1082A>T (p.Glu361Val)
c.893A>T (p.Glu298Val)
c.922+58A>T (n.922+58A>T)
c.977A>T (p.Glu326Val)
19g.41422756G>ACA507690764BCKDHAc.981G>A (p.Glu327=)
c.915G>A (p.Glu305=)
n.610G>A
c.1083G>A (p.Glu361=)
c.894G>A (p.Glu298=)
c.922+59G>A (n.922+59G>A)
c.978G>A (p.Glu326=)
 ClinVar dbSNP gnomAD v4
19g.41422756G>CCA406013517BCKDHAc.981G>C (p.Glu327Asp)
c.915G>C (p.Glu305Asp)
n.610G>C
c.1083G>C (p.Glu361Asp)
c.894G>C (p.Glu298Asp)
c.922+59G>C (n.922+59G>C)
c.978G>C (p.Glu326Asp)
 ClinVar dbSNP
19g.41422756G=CA2336459264BCKDHAc.981G= (p.Glu327=)
c.915G= (p.Glu305=)
n.610G=
c.1083G= (p.Glu361=)
c.894G= (p.Glu298=)
c.922+59G= (n.922+59G=)
c.978G= (p.Glu326=)
19g.41422756G>TCA406013518BCKDHAc.981G>T (p.Glu327Asp)
c.915G>T (p.Glu305Asp)
n.610G>T
c.1083G>T (p.Glu361Asp)
c.894G>T (p.Glu298Asp)
c.922+59G>T (n.922+59G>T)
c.978G>T (p.Glu326Asp)
 gnomAD v4
19g.41422757G>ACA406013519BCKDHAc.982G>A (p.Ala328Thr)
c.916G>A (p.Ala306Thr)
n.611G>A
c.1084G>A (p.Ala362Thr)
c.895G>A (p.Ala299Thr)
c.922+60G>A (n.922+60G>A)
c.979G>A (p.Ala327Thr)
 gnomAD v4
19g.41422757G>CCA406013520BCKDHAc.982G>C (p.Ala328Pro)
c.916G>C (p.Ala306Pro)
n.611G>C
c.1084G>C (p.Ala362Pro)
c.895G>C (p.Ala299Pro)
c.922+60G>C (n.922+60G>C)
c.979G>C (p.Ala327Pro)
19g.41422757G>TCA406013521BCKDHAc.982G>T (p.Ala328Ser)
c.916G>T (p.Ala306Ser)
n.611G>T
c.1084G>T (p.Ala362Ser)
c.895G>T (p.Ala299Ser)
c.922+60G>T (n.922+60G>T)
c.979G>T (p.Ala327Ser)
 gnomAD v4
19g.41422758C>ACA406013524BCKDHAc.983C>A (p.Ala328Asp)
c.917C>A (p.Ala306Asp)
n.612C>A
c.1085C>A (p.Ala362Asp)
c.896C>A (p.Ala299Asp)
c.922+61C>A (n.922+61C>A)
c.980C>A (p.Ala327Asp)
19g.41422758C>GCA406013523BCKDHAc.983C>G (p.Ala328Gly)
c.917C>G (p.Ala306Gly)
n.612C>G
c.1085C>G (p.Ala362Gly)
c.896C>G (p.Ala299Gly)
c.922+61C>G (n.922+61C>G)
c.980C>G (p.Ala327Gly)
19g.41422758C>TCA406013522BCKDHAc.983C>T (p.Ala328Val)
c.917C>T (p.Ala306Val)
n.612C>T
c.1085C>T (p.Ala362Val)
c.896C>T (p.Ala299Val)
c.922+61C>T (n.922+61C>T)
c.980C>T (p.Ala327Val)
19g.41422759C>ACA507690766BCKDHAc.984C>A (p.Ala328=)
c.918C>A (p.Ala306=)
n.613C>A
c.1086C>A (p.Ala362=)
c.897C>A (p.Ala299=)
c.922+62C>A (n.922+62C>A)
c.981C>A (p.Ala327=)
19g.41422759C=CA2336459265BCKDHAc.984C= (p.Ala328=)
c.918C= (p.Ala306=)
n.613C=
c.1086C= (p.Ala362=)
c.897C= (p.Ala299=)
c.922+62C= (n.922+62C=)
c.981C= (p.Ala327=)
19g.41422759C>GCA507690767BCKDHAc.984C>G (p.Ala328=)
c.918C>G (p.Ala306=)
n.613C>G
c.1086C>G (p.Ala362=)
c.897C>G (p.Ala299=)
c.922+62C>G (n.922+62C>G)
c.981C>G (p.Ala327=)
 gnomAD v4
19g.41422759C>TCA507690768BCKDHAc.984C>T (p.Ala328=)
c.918C>T (p.Ala306=)
n.613C>T
c.1086C>T (p.Ala362=)
c.897C>T (p.Ala299=)
c.922+62C>T (n.922+62C>T)
c.981C>T (p.Ala327=)
 dbSNP
19g.41422760A>CCA406013527BCKDHAc.985A>C (p.Met329Leu)
c.919A>C (p.Met307Leu)
n.614A>C
c.1087A>C (p.Met363Leu)
c.898A>C (p.Met300Leu)
c.922+63A>C (n.922+63A>C)
c.982A>C (p.Met328Leu)
19g.41422760A>GCA406013525BCKDHAc.985A>G (p.Met329Val)
c.919A>G (p.Met307Val)
n.614A>G
c.1087A>G (p.Met363Val)
c.898A>G (p.Met300Val)
c.922+63A>G (n.922+63A>G)
c.982A>G (p.Met328Val)
19g.41422760A>TCA406013526BCKDHAc.985A>T (p.Met329Leu)
c.919A>T (p.Met307Leu)
n.614A>T
c.1087A>T (p.Met363Leu)
c.898A>T (p.Met300Leu)
c.922+63A>T (n.922+63A>T)
c.982A>T (p.Met328Leu)
19g.41422761T>ACA406013528BCKDHAc.986T>A (p.Met329Lys)
c.920T>A (p.Met307Lys)
n.615T>A
c.1088T>A (p.Met363Lys)
c.899T>A (p.Met300Lys)
c.922+64T>A (n.922+64T>A)
c.983T>A (p.Met328Lys)
19g.41422761T>CCA406013529BCKDHAc.986T>C (p.Met329Thr)
c.920T>C (p.Met307Thr)
n.615T>C
c.1088T>C (p.Met363Thr)
c.899T>C (p.Met300Thr)
c.922+64T>C (n.922+64T>C)
c.983T>C (p.Met328Thr)
19g.41422761T>GCA406013530BCKDHAc.986T>G (p.Met329Arg)
c.920T>G (p.Met307Arg)
n.615T>G
c.1088T>G (p.Met363Arg)
c.899T>G (p.Met300Arg)
c.922+64T>G (n.922+64T>G)
c.983T>G (p.Met328Arg)
19g.41422762G>ACA406013533BCKDHAc.987G>A (p.Met329Ile)
c.921G>A (p.Met307Ile)
c.1089G>A (p.Met363Ile)
c.900G>A (p.Met300Ile)
c.922+65G>A (n.922+65G>A)
c.984G>A (p.Met328Ile)
 COSMIC
19g.41422762G>CCA406013532BCKDHAc.987G>C (p.Met329Ile)
c.921G>C (p.Met307Ile)
c.1089G>C (p.Met363Ile)
c.900G>C (p.Met300Ile)
c.922+65G>C (n.922+65G>C)
c.984G>C (p.Met328Ile)
19g.41422762G>TCA406013531BCKDHAc.987G>T (p.Met329Ile)
c.921G>T (p.Met307Ile)
c.1089G>T (p.Met363Ile)
c.900G>T (p.Met300Ile)
c.922+65G>T (n.922+65G>T)
c.984G>T (p.Met328Ile)
19g.41422763A=CA2336459266BCKDHAc.988A= (p.Thr330=)
c.922A= (p.Thr308=)
c.1090A= (p.Thr364=)
c.901A= (p.Thr301=)
c.922+66A= (n.922+66A=)
c.985A= (p.Thr329=)
19g.41422763A>CCA406013534BCKDHAc.988A>C (p.Thr330Pro)
c.922A>C (p.Thr308Pro)
c.1090A>C (p.Thr364Pro)
c.901A>C (p.Thr301Pro)
c.922+66A>C (n.922+66A>C)
c.985A>C (p.Thr329Pro)
 dbSNP
19g.41422763A>GCA406013535BCKDHAc.988A>G (p.Thr330Ala)
c.922A>G (p.Thr308Ala)
c.1090A>G (p.Thr364Ala)
c.901A>G (p.Thr301Ala)
c.922+66A>G (n.922+66A>G)
c.985A>G (p.Thr329Ala)
 gnomAD v4
19g.41422763A>TCA406013536BCKDHAc.988A>T (p.Thr330Ser)
c.922A>T (p.Thr308Ser)
c.1090A>T (p.Thr364Ser)
c.901A>T (p.Thr301Ser)
c.922+66A>T (n.922+66A>T)
c.985A>T (p.Thr329Ser)
19g.41422764C>ACA406013537BCKDHAc.989C>A (p.Thr330Asn)
c.923C>A (p.Thr308Asn)
c.1091C>A (p.Thr364Asn)
c.902C>A (p.Thr301Asn)
c.922+67C>A (n.922+67C>A)
c.986C>A (p.Thr329Asn)
19g.41422764C=CA2336459267BCKDHAc.989C= (p.Thr330=)
c.923C= (p.Thr308=)
c.1091C= (p.Thr364=)
c.902C= (p.Thr301=)
c.922+67C= (n.922+67C=)
c.986C= (p.Thr329=)
19g.41422764C>GCA406013538BCKDHAc.989C>G (p.Thr330Ser)
c.923C>G (p.Thr308Ser)
c.1091C>G (p.Thr364Ser)
c.902C>G (p.Thr301Ser)
c.922+67C>G (n.922+67C>G)
c.986C>G (p.Thr329Ser)
 gnomAD v4
19g.41422764C>TCA406013539BCKDHAc.989C>T (p.Thr330Ile)
c.923C>T (p.Thr308Ile)
c.1091C>T (p.Thr364Ile)
c.902C>T (p.Thr301Ile)
c.922+67C>T (n.922+67C>T)
c.986C>T (p.Thr329Ile)
 dbSNP
19g.41422765C>ACA507690776BCKDHAc.990C>A (p.Thr330=)
c.924C>A (p.Thr308=)
c.1092C>A (p.Thr364=)
c.903C>A (p.Thr301=)
c.922+68C>A (n.922+68C>A)
c.987C>A (p.Thr329=)
 ClinVar dbSNP gnomAD v4
19g.41422765C=CA2336459268BCKDHAc.990C= (p.Thr330=)
c.924C= (p.Thr308=)
c.1092C= (p.Thr364=)
c.903C= (p.Thr301=)
c.922+68C= (n.922+68C=)
c.987C= (p.Thr329=)
19g.41422765C>GCA507690777BCKDHAc.990C>G (p.Thr330=)
c.924C>G (p.Thr308=)
c.1092C>G (p.Thr364=)
c.903C>G (p.Thr301=)
c.922+68C>G (n.922+68C>G)
c.987C>G (p.Thr329=)
 gnomAD v4
19g.41422765C>TCA507690778BCKDHAc.990C>T (p.Thr330=)
c.924C>T (p.Thr308=)
c.1092C>T (p.Thr364=)
c.903C>T (p.Thr301=)
c.922+68C>T (n.922+68C>T)
c.987C>T (p.Thr329=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422766T>ACA406013540BCKDHAc.991T>A (p.Tyr331Asn)
c.925T>A (p.Tyr309Asn)
c.1093T>A (p.Tyr365Asn)
c.904T>A (p.Tyr302Asn)
c.922+69T>A (n.922+69T>A)
c.988T>A (p.Tyr330Asn)
 gnomAD v4
19g.41422766T>CCA406013542BCKDHAc.991T>C (p.Tyr331His)
c.925T>C (p.Tyr309His)
c.1093T>C (p.Tyr365His)
c.904T>C (p.Tyr302His)
c.922+69T>C (n.922+69T>C)
c.988T>C (p.Tyr330His)
19g.41422766T>GCA406013541BCKDHAc.991T>G (p.Tyr331Asp)
c.925T>G (p.Tyr309Asp)
c.1093T>G (p.Tyr365Asp)
c.904T>G (p.Tyr302Asp)
c.922+69T>G (n.922+69T>G)
c.988T>G (p.Tyr330Asp)
19g.41422766T=CA2336459269BCKDHAc.991T= (p.Tyr331=)
c.925T= (p.Tyr309=)
c.1093T= (p.Tyr365=)
c.904T= (p.Tyr302=)
c.922+69T= (n.922+69T=)
c.988T= (p.Tyr330=)
19g.41422766dupCA913016476BCKDHAc.991dup (p.Tyr331LeufsTer10)
c.925dup (p.Tyr309LeufsTer10)
c.1093dup (p.Tyr365LeufsTer10)
c.904dup (p.Tyr302LeufsTer10)
c.922+69dup (n.922+69dup)
c.988dup (p.Tyr330LeufsTer10)
19g.41422767A>CCA406013543BCKDHAc.992A>C (p.Tyr331Ser)
c.926A>C (p.Tyr309Ser)
c.1094A>C (p.Tyr365Ser)
c.905A>C (p.Tyr302Ser)
c.922+70A>C (n.922+70A>C)
c.989A>C (p.Tyr330Ser)
19g.41422767A>GCA406013544BCKDHAc.992A>G (p.Tyr331Cys)
c.926A>G (p.Tyr309Cys)
c.1094A>G (p.Tyr365Cys)
c.905A>G (p.Tyr302Cys)
c.922+70A>G (n.922+70A>G)
c.989A>G (p.Tyr330Cys)
19g.41422767A>TCA406013545BCKDHAc.992A>T (p.Tyr331Phe)
c.926A>T (p.Tyr309Phe)
c.1094A>T (p.Tyr365Phe)
c.905A>T (p.Tyr302Phe)
c.922+70A>T (n.922+70A>T)
c.989A>T (p.Tyr330Phe)
19g.41422767dupCA658824991BCKDHAc.992dup (p.Tyr331Ter)
c.926dup (p.Tyr309Ter)
c.1094dup (p.Tyr365Ter)
c.905dup (p.Tyr302Ter)
c.922+70dup (n.922+70dup)
c.989dup (p.Tyr330Ter)
 ClinVar dbSNP
19g.41422768C>ACA406013546BCKDHAc.993C>A (p.Tyr331Ter)
c.927C>A (p.Tyr309Ter)
c.1095C>A (p.Tyr365Ter)
c.906C>A (p.Tyr302Ter)
c.922+71C>A (n.922+71C>A)
c.990C>A (p.Tyr330Ter)
19g.41422768C=CA2336459270BCKDHAc.993C= (p.Tyr331=)
c.927C= (p.Tyr309=)
c.1095C= (p.Tyr365=)
c.906C= (p.Tyr302=)
c.922+71C= (n.922+71C=)
c.990C= (p.Tyr330=)
19g.41422768C>GCA406013547BCKDHAc.993C>G (p.Tyr331Ter)
c.927C>G (p.Tyr309Ter)
c.1095C>G (p.Tyr365Ter)
c.906C>G (p.Tyr302Ter)
c.922+71C>G (n.922+71C>G)
c.990C>G (p.Tyr330Ter)
 ClinVar
19g.41422768C>TCA308524920BCKDHAc.993C>T (p.Tyr331=)
c.927C>T (p.Tyr309=)
c.1095C>T (p.Tyr365=)
c.906C>T (p.Tyr302=)
c.922+71C>T (n.922+71C>T)
c.990C>T (p.Tyr330=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422769A>CCA406013548BCKDHAc.994A>C (p.Arg332=)
c.928A>C (p.Ser310Arg)
c.1096A>C (p.Arg366=)
c.907A>C (p.Arg303=)
c.922+72A>C (n.922+72A>C)
c.991A>C (p.Arg331=)
19g.41422769A>GCA406013549BCKDHAc.994A>G (p.Arg332Gly)
c.928A>G (p.Ser310Gly)
c.1096A>G (p.Arg366Gly)
c.907A>G (p.Arg303Gly)
c.922+72A>G (n.922+72A>G)
c.991A>G (p.Arg331Gly)
 gnomAD v4
19g.41422769A>TCA406013550BCKDHAc.994A>T (p.Arg332Trp)
c.928A>T (p.Ser310Cys)
c.1096A>T (p.Arg366Trp)
c.907A>T (p.Arg303Trp)
c.922+72A>T (n.922+72A>T)
c.991A>T (p.Arg331Trp)
19g.41422770G>ACA406013551BCKDHAc.995G>A (p.Arg332Lys)
c.929G>A (p.Ser310Asn)
c.1097G>A (p.Arg366Lys)
c.908G>A (p.Arg303Lys)
c.922+73G>A (n.922+73G>A)
c.992G>A (p.Arg331Lys)
 gnomAD v4
19g.41422770G>CCA406013552BCKDHAc.995G>C (p.Arg332Thr)
c.929G>C (p.Ser310Thr)
c.1097G>C (p.Arg366Thr)
c.908G>C (p.Arg303Thr)
c.922+73G>C (n.922+73G>C)
c.992G>C (p.Arg331Thr)
19g.41422770G>TCA406013553BCKDHAc.995G>T (p.Arg332Met)
c.929G>T (p.Ser310Ile)
c.1097G>T (p.Arg366Met)
c.908G>T (p.Arg303Met)
c.922+73G>T (n.922+73G>T)
c.992G>T (p.Arg331Met)
 gnomAD v4
19g.41422771G>ACA406013556BCKDHAc.995+1G>A (n.995+1G>A)
c.929+1G>A (n.929+1G>A)
c.1097+1G>A (n.1097+1G>A)
c.908+1G>A (n.908+1G>A)
c.922+74G>A (n.922+74G>A)
c.992+1G>A (n.992+1G>A)
 ClinVar gnomAD v4
19g.41422771G>CCA406013555BCKDHAc.995+1G>C (n.995+1G>C)
c.929+1G>C (n.929+1G>C)
c.1097+1G>C (n.1097+1G>C)
c.908+1G>C (n.908+1G>C)
c.922+74G>C (n.922+74G>C)
c.992+1G>C (n.992+1G>C)
19g.41422771G=CA2336459271BCKDHAc.995+1G= (n.995+1G=)
c.929+1G= (n.929+1G=)
c.1097+1G= (n.1097+1G=)
c.908+1G= (n.908+1G=)
c.922+74G= (n.922+74G=)
c.992+1G= (n.992+1G=)
19g.41422771G>TCA406013554BCKDHAc.995+1G>T (n.995+1G>T)
c.929+1G>T (n.929+1G>T)
c.1097+1G>T (n.1097+1G>T)
c.908+1G>T (n.908+1G>T)
c.922+74G>T (n.922+74G>T)
c.992+1G>T (n.992+1G>T)
19g.41422772T>ACA406013557BCKDHAc.995+2T>A (n.995+2T>A)
c.929+2T>A (n.929+2T>A)
c.1097+2T>A (n.1097+2T>A)
c.908+2T>A (n.908+2T>A)
c.922+75T>A (n.922+75T>A)
c.992+2T>A (n.992+2T>A)
19g.41422772T>CCA406013559BCKDHAc.995+2T>C (n.995+2T>C)
c.929+2T>C (n.929+2T>C)
c.1097+2T>C (n.1097+2T>C)
c.908+2T>C (n.908+2T>C)
c.922+75T>C (n.922+75T>C)
c.992+2T>C (n.992+2T>C)
 ClinVar gnomAD v4
19g.41422772T>GCA406013558BCKDHAc.995+2T>G (n.995+2T>G)
c.929+2T>G (n.929+2T>G)
c.1097+2T>G (n.1097+2T>G)
c.908+2T>G (n.908+2T>G)
c.922+75T>G (n.922+75T>G)
c.992+2T>G (n.992+2T>G)
19g.41422773G>ACA308524923BCKDHAc.995+3G>A (n.995+3G>A)
c.929+3G>A (n.929+3G>A)
c.1097+3G>A (n.1097+3G>A)
c.908+3G>A (n.908+3G>A)
c.922+76G>A (n.922+76G>A)
c.992+3G>A (n.992+3G>A)
 dbSNP
19g.41422773G>CCA633470367BCKDHAc.995+3G>C (n.995+3G>C)
c.929+3G>C (n.929+3G>C)
c.1097+3G>C (n.1097+3G>C)
c.908+3G>C (n.908+3G>C)
c.922+76G>C (n.922+76G>C)
c.992+3G>C (n.992+3G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41422773G=CA2336459272BCKDHAc.995+3G= (n.995+3G=)
c.929+3G= (n.929+3G=)
c.1097+3G= (n.1097+3G=)
c.908+3G= (n.908+3G=)
c.922+76G= (n.922+76G=)
c.992+3G= (n.992+3G=)
19g.41422773G>TCA2585308119BCKDHAc.995+3G>T (n.995+3G>T)
c.929+3G>T (n.929+3G>T)
c.1097+3G>T (n.1097+3G>T)
c.908+3G>T (n.908+3G>T)
c.922+76G>T (n.922+76G>T)
c.992+3G>T (n.992+3G>T)
 gnomAD v4
19g.41422775C=CA2336459273BCKDHAc.995+5C= (n.995+5C=)
c.929+5C= (n.929+5C=)
c.1097+5C= (n.1097+5C=)
c.908+5C= (n.908+5C=)
c.922+78C= (n.922+78C=)
c.992+5C= (n.992+5C=)
19g.41422775C>TCA995976722BCKDHAc.995+5C>T (n.995+5C>T)
c.929+5C>T (n.929+5C>T)
c.1097+5C>T (n.1097+5C>T)
c.908+5C>T (n.908+5C>T)
c.922+78C>T (n.922+78C>T)
c.992+5C>T (n.992+5C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41422776T>CCA308524933BCKDHAc.995+6T>C (n.995+6T>C)
c.929+6T>C (n.929+6T>C)
c.1097+6T>C (n.1097+6T>C)
c.908+6T>C (n.908+6T>C)
c.922+79T>C (n.922+79T>C)
c.992+6T>C (n.992+6T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41422776T=CA2336459274BCKDHAc.995+6T= (n.995+6T=)
c.929+6T= (n.929+6T=)
c.1097+6T= (n.1097+6T=)
c.908+6T= (n.908+6T=)
c.922+79T= (n.922+79T=)
c.992+6T= (n.992+6T=)
19g.41422777G>TCA2585308120BCKDHAc.995+7G>T (n.995+7G>T)
c.929+7G>T (n.929+7G>T)
c.1097+7G>T (n.1097+7G>T)
c.908+7G>T (n.908+7G>T)
c.922+80G>T (n.922+80G>T)
c.992+7G>T (n.992+7G>T)
 gnomAD v4
19g.41422778C>ACA2585308121BCKDHAc.995+8C>A (n.995+8C>A)
c.929+8C>A (n.929+8C>A)
c.1097+8C>A (n.1097+8C>A)
c.908+8C>A (n.908+8C>A)
c.922+81C>A (n.922+81C>A)
c.992+8C>A (n.992+8C>A)
 gnomAD v4
19g.41422778C=CA2336459275BCKDHAc.995+8C= (n.995+8C=)
c.929+8C= (n.929+8C=)
c.1097+8C= (n.1097+8C=)
c.908+8C= (n.908+8C=)
c.922+81C= (n.922+81C=)
c.992+8C= (n.992+8C=)
19g.41422778C>TCA10642869BCKDHAc.995+8C>T (n.995+8C>T)
c.929+8C>T (n.929+8C>T)
c.1097+8C>T (n.1097+8C>T)
c.908+8C>T (n.908+8C>T)
c.922+81C>T (n.922+81C>T)
c.992+8C>T (n.992+8C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422779C>ACA2581387367BCKDHAc.995+9C>A (n.995+9C>A)
c.929+9C>A (n.929+9C>A)
c.1097+9C>A (n.1097+9C>A)
c.908+9C>A (n.908+9C>A)
c.922+82C>A (n.922+82C>A)
c.992+9C>A (n.992+9C>A)
 gnomAD v4
19g.41422779C=CA2336459276BCKDHAc.995+9C= (n.995+9C=)
c.929+9C= (n.929+9C=)
c.1097+9C= (n.1097+9C=)
c.908+9C= (n.908+9C=)
c.922+82C= (n.922+82C=)
c.992+9C= (n.992+9C=)
19g.41422779C>GCA1139666461BCKDHAc.995+9C>G (n.995+9C>G)
c.929+9C>G (n.929+9C>G)
c.1097+9C>G (n.1097+9C>G)
c.908+9C>G (n.908+9C>G)
c.922+82C>G (n.922+82C>G)
c.992+9C>G (n.992+9C>G)
 ClinVar dbSNP
19g.41422779C>TCA146883BCKDHAc.995+9C>T (n.995+9C>T)
c.929+9C>T (n.929+9C>T)
c.1097+9C>T (n.1097+9C>T)
c.908+9C>T (n.908+9C>T)
c.922+82C>T (n.922+82C>T)
c.992+9C>T (n.992+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422780G>ACA9461311BCKDHAc.995+10G>A (n.995+10G>A)
c.929+10G>A (n.929+10G>A)
c.1097+10G>A (n.1097+10G>A)
c.908+10G>A (n.908+10G>A)
c.922+83G>A (n.922+83G>A)
c.992+10G>A (n.992+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422780G>CCA2580097313BCKDHAc.995+10G>C (n.995+10G>C)
c.929+10G>C (n.929+10G>C)
c.1097+10G>C (n.1097+10G>C)
c.908+10G>C (n.908+10G>C)
c.922+83G>C (n.922+83G>C)
c.992+10G>C (n.992+10G>C)
 ClinVar gnomAD v4
19g.41422780G=CA2336459277BCKDHAc.995+10G= (n.995+10G=)
c.929+10G= (n.929+10G=)
c.1097+10G= (n.1097+10G=)
c.908+10G= (n.908+10G=)
c.922+83G= (n.922+83G=)
c.992+10G= (n.992+10G=)
19g.41422781C=CA2336459278BCKDHAc.995+11C= (n.995+11C=)
c.929+11C= (n.929+11C=)
c.1097+11C= (n.1097+11C=)
c.908+11C= (n.908+11C=)
c.922+84C= (n.922+84C=)
c.992+11C= (n.992+11C=)
19g.41422781C>TCA882350011BCKDHAc.995+11C>T (n.995+11C>T)
c.929+11C>T (n.929+11C>T)
c.1097+11C>T (n.1097+11C>T)
c.908+11C>T (n.908+11C>T)
c.922+84C>T (n.922+84C>T)
c.992+11C>T (n.992+11C>T)
 dbSNP gnomAD v4
19g.41422782T>CCA2585308122BCKDHAc.995+12T>C (n.995+12T>C)
c.929+12T>C (n.929+12T>C)
c.1097+12T>C (n.1097+12T>C)
c.908+12T>C (n.908+12T>C)
c.922+85T>C (n.922+85T>C)
c.992+12T>C (n.992+12T>C)
 gnomAD v4
19g.41422782_41422785delinsTCCCCA2336459279BCKDHAc.995+12_995+15delinsTCCC (n.995+12_995+15delinsTCCC)
c.929+12_929+15delinsTCCC (n.929+12_929+15delinsTCCC)
c.1097+12_1097+15delinsTCCC (n.1097+12_1097+15delinsTCCC)
c.908+12_908+15delinsTCCC (n.908+12_908+15delinsTCCC)
c.922+85_922+88delinsTCCC (n.922+85_922+88delinsTCCC)
c.992+12_992+15delinsTCCC (n.992+12_992+15delinsTCCC)
19g.41422783C>ACA9461314BCKDHAc.995+13C>A (n.995+13C>A)
c.929+13C>A (n.929+13C>A)
c.1097+13C>A (n.1097+13C>A)
c.908+13C>A (n.908+13C>A)
c.922+86C>A (n.922+86C>A)
c.992+13C>A (n.992+13C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422783C=CA2336459280BCKDHAc.995+13C= (n.995+13C=)
c.929+13C= (n.929+13C=)
c.1097+13C= (n.1097+13C=)
c.908+13C= (n.908+13C=)
c.922+86C= (n.922+86C=)
c.992+13C= (n.992+13C=)
19g.41422783C>TCA9461315BCKDHAc.995+13C>T (n.995+13C>T)
c.929+13C>T (n.929+13C>T)
c.1097+13C>T (n.1097+13C>T)
c.908+13C>T (n.908+13C>T)
c.922+86C>T (n.922+86C>T)
c.992+13C>T (n.992+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422788dupCA882350020BCKDHAc.995+18dup (n.995+18dup)
c.929+18dup (n.929+18dup)
c.1097+18dup (n.1097+18dup)
c.908+18dup (n.908+18dup)
c.922+91dup (n.922+91dup)
c.992+18dup (n.992+18dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422788delCA9461312BCKDHAc.995+18del (n.995+18del)
c.929+18del (n.929+18del)
c.1097+18del (n.1097+18del)
c.908+18del (n.908+18del)
c.922+91del (n.922+91del)
c.992+18del (n.992+18del)
 ClinVar dbSNP ExAC gnomAD v4
19g.41422786_41422788delCA9461313BCKDHAc.995+16_995+18del (n.995+16_995+18del)
c.929+16_929+18del (n.929+16_929+18del)
c.1097+16_1097+18del (n.1097+16_1097+18del)
c.908+16_908+18del (n.908+16_908+18del)
c.922+89_922+91del (n.922+89_922+91del)
c.992+16_992+18del (n.992+16_992+18del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422785C>TCA2576793852BCKDHAc.995+15C>T (n.995+15C>T)
c.929+15C>T (n.929+15C>T)
c.1097+15C>T (n.1097+15C>T)
c.908+15C>T (n.908+15C>T)
c.922+88C>T (n.922+88C>T)
c.992+15C>T (n.992+15C>T)
 ClinVar
19g.41422786C>ACA633470368BCKDHAc.995+16C>A (n.995+16C>A)
c.929+16C>A (n.929+16C>A)
c.1097+16C>A (n.1097+16C>A)
c.908+16C>A (n.908+16C>A)
c.922+89C>A (n.922+89C>A)
c.992+16C>A (n.992+16C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422786C=CA2336459281BCKDHAc.995+16C= (n.995+16C=)
c.929+16C= (n.929+16C=)
c.1097+16C= (n.1097+16C=)
c.908+16C= (n.908+16C=)
c.922+89C= (n.922+89C=)
c.992+16C= (n.992+16C=)
19g.41422787C>ACA2585308123BCKDHAc.995+17C>A (n.995+17C>A)
c.929+17C>A (n.929+17C>A)
c.1097+17C>A (n.1097+17C>A)
c.908+17C>A (n.908+17C>A)
c.922+90C>A (n.922+90C>A)
c.992+17C>A (n.992+17C>A)
 gnomAD v4
19g.41422787C=CA2336459282BCKDHAc.995+17C= (n.995+17C=)
c.929+17C= (n.929+17C=)
c.1097+17C= (n.1097+17C=)
c.908+17C= (n.908+17C=)
c.922+90C= (n.922+90C=)
c.992+17C= (n.992+17C=)
19g.41422787C>GCA9461316BCKDHAc.995+17C>G (n.995+17C>G)
c.929+17C>G (n.929+17C>G)
c.1097+17C>G (n.1097+17C>G)
c.908+17C>G (n.908+17C>G)
c.922+90C>G (n.922+90C>G)
c.992+17C>G (n.992+17C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422787C>TCA9461317BCKDHAc.995+17C>T (n.995+17C>T)
c.929+17C>T (n.929+17C>T)
c.1097+17C>T (n.1097+17C>T)
c.908+17C>T (n.908+17C>T)
c.922+90C>T (n.922+90C>T)
c.992+17C>T (n.992+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422788C>ACA2336459284BCKDHAc.995+18C>A (n.995+18C>A)
c.929+18C>A (n.929+18C>A)
c.1097+18C>A (n.1097+18C>A)
c.908+18C>A (n.908+18C>A)
c.922+91C>A (n.922+91C>A)
c.992+18C>A (n.992+18C>A)
 ClinVar dbSNP
19g.41422788C=CA2336459283BCKDHAc.995+18C= (n.995+18C=)
c.929+18C= (n.929+18C=)
c.1097+18C= (n.1097+18C=)
c.908+18C= (n.908+18C=)
c.922+91C= (n.922+91C=)
c.992+18C= (n.992+18C=)
19g.41422788C>GCA2580097317BCKDHAc.995+18C>G (n.995+18C>G)
c.929+18C>G (n.929+18C>G)
c.1097+18C>G (n.1097+18C>G)
c.908+18C>G (n.908+18C>G)
c.922+91C>G (n.922+91C>G)
c.992+18C>G (n.992+18C>G)
 ClinVar gnomAD v4
19g.41422788C>TCA9461318BCKDHAc.995+18C>T (n.995+18C>T)
c.929+18C>T (n.929+18C>T)
c.1097+18C>T (n.1097+18C>T)
c.908+18C>T (n.908+18C>T)
c.922+91C>T (n.922+91C>T)
c.992+18C>T (n.992+18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422789G>ACA9461319BCKDHAc.995+19G>A (n.995+19G>A)
c.929+19G>A (n.929+19G>A)
c.1097+19G>A (n.1097+19G>A)
c.908+19G>A (n.908+19G>A)
c.922+92G>A (n.922+92G>A)
c.992+19G>A (n.992+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422789G>CCA633470369BCKDHAc.995+19G>C (n.995+19G>C)
c.929+19G>C (n.929+19G>C)
c.1097+19G>C (n.1097+19G>C)
c.908+19G>C (n.908+19G>C)
c.922+92G>C (n.922+92G>C)
c.992+19G>C (n.992+19G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41422789G=CA2336459285BCKDHAc.995+19G= (n.995+19G=)
c.929+19G= (n.929+19G=)
c.1097+19G= (n.1097+19G=)
c.908+19G= (n.908+19G=)
c.922+92G= (n.922+92G=)
c.992+19G= (n.992+19G=)
19g.41422789G>TCA2585308124BCKDHAc.995+19G>T (n.995+19G>T)
c.929+19G>T (n.929+19G>T)
c.1097+19G>T (n.1097+19G>T)
c.908+19G>T (n.908+19G>T)
c.922+92G>T (n.922+92G>T)
c.992+19G>T (n.992+19G>T)
 gnomAD v4
19g.41422790T>CCA2576793853BCKDHAc.995+20T>C (n.995+20T>C)
c.929+20T>C (n.929+20T>C)
c.1097+20T>C (n.1097+20T>C)
c.908+20T>C (n.908+20T>C)
c.922+93T>C (n.922+93T>C)
c.992+20T>C (n.992+20T>C)
 ClinVar
19g.41422791C>TCA2585308125BCKDHAc.995+21C>T (n.995+21C>T)
c.929+21C>T (n.929+21C>T)
c.1097+21C>T (n.1097+21C>T)
c.908+21C>T (n.908+21C>T)
c.922+94C>T (n.922+94C>T)
c.992+21C>T (n.992+21C>T)
 gnomAD v4
19g.41422792A=CA2336459286BCKDHAc.995+22A= (n.995+22A=)
c.929+22A= (n.929+22A=)
c.1097+22A= (n.1097+22A=)
c.908+22A= (n.908+22A=)
c.922+95A= (n.922+95A=)
c.992+22A= (n.992+22A=)
19g.41422792A>CCA633470370BCKDHAc.995+22A>C (n.995+22A>C)
c.929+22A>C (n.929+22A>C)
c.1097+22A>C (n.1097+22A>C)
c.908+22A>C (n.908+22A>C)
c.922+95A>C (n.922+95A>C)
c.992+22A>C (n.992+22A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422793G>ACA9461320BCKDHAc.995+23G>A (n.995+23G>A)
c.929+23G>A (n.929+23G>A)
c.1097+23G>A (n.1097+23G>A)
c.908+23G>A (n.908+23G>A)
c.922+96G>A (n.922+96G>A)
c.992+23G>A (n.992+23G>A)
 dbSNP ExAC
19g.41422793G>CCA2585308126BCKDHAc.995+23G>C (n.995+23G>C)
c.929+23G>C (n.929+23G>C)
c.1097+23G>C (n.1097+23G>C)
c.908+23G>C (n.908+23G>C)
c.922+96G>C (n.922+96G>C)
c.992+23G>C (n.992+23G>C)
 gnomAD v4
19g.41422793G=CA2336459287BCKDHAc.995+23G= (n.995+23G=)
c.929+23G= (n.929+23G=)
c.1097+23G= (n.1097+23G=)
c.908+23G= (n.908+23G=)
c.922+96G= (n.922+96G=)
c.992+23G= (n.992+23G=)
19g.41422793G>TCA2585308127BCKDHAc.995+23G>T (n.995+23G>T)
c.929+23G>T (n.929+23G>T)
c.1097+23G>T (n.1097+23G>T)
c.908+23G>T (n.908+23G>T)
c.922+96G>T (n.922+96G>T)
c.992+23G>T (n.992+23G>T)
 gnomAD v4
19g.41422794C>TCA2585308128BCKDHAc.995+24C>T (n.995+24C>T)
c.929+24C>T (n.929+24C>T)
c.1097+24C>T (n.1097+24C>T)
c.908+24C>T (n.908+24C>T)
c.922+97C>T (n.922+97C>T)
c.992+24C>T (n.992+24C>T)
 gnomAD v4
19g.41422795A=CA2336459288BCKDHAc.995+25A= (n.995+25A=)
c.929+25A= (n.929+25A=)
c.1097+25A= (n.1097+25A=)
c.908+25A= (n.908+25A=)
c.922+98A= (n.922+98A=)
c.992+25A= (n.992+25A=)
19g.41422795A>CCA2336459289BCKDHAc.995+25A>C (n.995+25A>C)
c.929+25A>C (n.929+25A>C)
c.1097+25A>C (n.1097+25A>C)
c.908+25A>C (n.908+25A>C)
c.922+98A>C (n.922+98A>C)
c.992+25A>C (n.992+25A>C)
 dbSNP
19g.41422796C>ACA2581387368BCKDHAc.995+26C>A (n.995+26C>A)
c.929+26C>A (n.929+26C>A)
c.1097+26C>A (n.1097+26C>A)
c.908+26C>A (n.908+26C>A)
c.922+99C>A (n.922+99C>A)
c.992+26C>A (n.992+26C>A)
19g.41422796C=CA2336459290BCKDHAc.995+26C= (n.995+26C=)
c.929+26C= (n.929+26C=)
c.1097+26C= (n.1097+26C=)
c.908+26C= (n.908+26C=)
c.922+99C= (n.922+99C=)
c.992+26C= (n.992+26C=)
19g.41422796C>GCA2581387369BCKDHAc.995+26C>G (n.995+26C>G)
c.929+26C>G (n.929+26C>G)
c.1097+26C>G (n.1097+26C>G)
c.908+26C>G (n.908+26C>G)
c.922+99C>G (n.922+99C>G)
c.992+26C>G (n.992+26C>G)
19g.41422796C>TCA146881BCKDHAc.995+26C>T (n.995+26C>T)
c.929+26C>T (n.929+26C>T)
c.1097+26C>T (n.1097+26C>T)
c.908+26C>T (n.908+26C>T)
c.922+99C>T (n.922+99C>T)
c.992+26C>T (n.992+26C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422800dupCA9461321BCKDHAc.995+30dup (n.995+30dup)
c.929+30dup (n.929+30dup)
c.1097+30dup (n.1097+30dup)
c.908+30dup (n.908+30dup)
c.922+103dup (n.922+103dup)
c.992+30dup (n.992+30dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422800delCA2585308129BCKDHAc.995+30del (n.995+30del)
c.929+30del (n.929+30del)
c.1097+30del (n.1097+30del)
c.908+30del (n.908+30del)
c.922+103del (n.922+103del)
c.992+30del (n.992+30del)
 gnomAD v4
19g.41422797C>ACA2585308130BCKDHAc.995+27C>A (n.995+27C>A)
c.929+27C>A (n.929+27C>A)
c.1097+27C>A (n.1097+27C>A)
c.908+27C>A (n.908+27C>A)
c.922+100C>A (n.922+100C>A)
c.992+27C>A (n.992+27C>A)
 gnomAD v4
19g.41422797C>TCA2585308131BCKDHAc.995+27C>T (n.995+27C>T)
c.929+27C>T (n.929+27C>T)
c.1097+27C>T (n.1097+27C>T)
c.908+27C>T (n.908+27C>T)
c.922+100C>T (n.922+100C>T)
c.992+27C>T (n.992+27C>T)
 gnomAD v4
19g.41422798C>TCA2585308132BCKDHAc.995+28C>T (n.995+28C>T)
c.929+28C>T (n.929+28C>T)
c.1097+28C>T (n.1097+28C>T)
c.908+28C>T (n.908+28C>T)
c.922+101C>T (n.922+101C>T)
c.992+28C>T (n.992+28C>T)
 gnomAD v4
19g.41422799C=CA2336459291BCKDHAc.995+29C= (n.995+29C=)
c.929+29C= (n.929+29C=)
c.1097+29C= (n.1097+29C=)
c.908+29C= (n.908+29C=)
c.922+102C= (n.922+102C=)
c.992+29C= (n.992+29C=)
19g.41422799C>GCA9461322BCKDHAc.995+29C>G (n.995+29C>G)
c.929+29C>G (n.929+29C>G)
c.1097+29C>G (n.1097+29C>G)
c.908+29C>G (n.908+29C>G)
c.922+102C>G (n.922+102C>G)
c.992+29C>G (n.992+29C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422799C>TCA2585308133BCKDHAc.995+29C>T (n.995+29C>T)
c.929+29C>T (n.929+29C>T)
c.1097+29C>T (n.1097+29C>T)
c.908+29C>T (n.908+29C>T)
c.922+102C>T (n.922+102C>T)
c.992+29C>T (n.992+29C>T)
 gnomAD v4
19g.41422800C>ACA2576793854BCKDHAc.995+30C>A (n.995+30C>A)
c.929+30C>A (n.929+30C>A)
c.1097+30C>A (n.1097+30C>A)
c.908+30C>A (n.908+30C>A)
c.922+103C>A (n.922+103C>A)
c.992+30C>A (n.992+30C>A)
19g.41422800C>TCA2585308134BCKDHAc.995+30C>T (n.995+30C>T)
c.929+30C>T (n.929+30C>T)
c.1097+30C>T (n.1097+30C>T)
c.908+30C>T (n.908+30C>T)
c.922+103C>T (n.922+103C>T)
c.992+30C>T (n.992+30C>T)
 gnomAD v4

Number of alleles fetched