Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422636_41422643delCA275390BCKDHAc.861_868del (p.Gly288ValfsTer11)
c.795_802del (p.Gly266ValfsTer11)
n.490_497del
c.963_970del (p.Gly322ValfsTer11)
c.774_781del (p.Gly259ValfsTer11)
n.489_496del
c.858_865del (p.Gly287ValfsTer11)
 ClinVar dbSNP gnomAD v4
19g.41422642C>ACA507690678BCKDHAc.867C>A (p.Pro289=)
c.801C>A (p.Pro267=)
n.496C>A
c.969C>A (p.Pro323=)
c.780C>A (p.Pro260=)
n.495C>A
c.864C>A (p.Pro288=)
19g.41422642C=CA2336459204BCKDHAc.867C= (p.Pro289=)
c.801C= (p.Pro267=)
n.496C=
c.969C= (p.Pro323=)
c.780C= (p.Pro260=)
n.495C=
c.864C= (p.Pro288=)
19g.41422642C>GCA507690680BCKDHAc.867C>G (p.Pro289=)
c.801C>G (p.Pro267=)
n.496C>G
c.969C>G (p.Pro323=)
c.780C>G (p.Pro260=)
n.495C>G
c.864C>G (p.Pro288=)
19g.41422642C>TCA9461292BCKDHAc.867C>T (p.Pro289=)
c.801C>T (p.Pro267=)
n.496C>T
c.969C>T (p.Pro323=)
c.780C>T (p.Pro260=)
n.495C>T
c.864C>T (p.Pro288=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422643G>ACA115508BCKDHAc.868G>A (p.Gly290Arg)
c.802G>A (p.Gly268Arg)
n.497G>A
c.970G>A (p.Gly324Arg)
c.781G>A (p.Gly261Arg)
n.496G>A
c.865G>A (p.Gly289Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422643G>CCA9461293BCKDHAc.868G>C (p.Gly290Arg)
c.802G>C (p.Gly268Arg)
n.497G>C
c.970G>C (p.Gly324Arg)
c.781G>C (p.Gly261Arg)
n.496G>C
c.865G>C (p.Gly289Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422643G=CA2336459205BCKDHAc.868G= (p.Gly290=)
c.802G= (p.Gly268=)
n.497G=
c.970G= (p.Gly324=)
c.781G= (p.Gly261=)
n.496G=
c.865G= (p.Gly289=)
19g.41422643G>TCA406013241BCKDHAc.868G>T (p.Gly290Trp)
c.802G>T (p.Gly268Trp)
n.497G>T
c.970G>T (p.Gly324Trp)
c.781G>T (p.Gly261Trp)
n.496G>T
c.865G>T (p.Gly289Trp)
19g.41422644G>ACA406013247BCKDHAc.869G>A (p.Gly290Glu)
c.803G>A (p.Gly268Glu)
n.498G>A
c.971G>A (p.Gly324Glu)
c.782G>A (p.Gly261Glu)
n.497G>A
c.866G>A (p.Gly289Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.41422644G>CCA406013246BCKDHAc.869G>C (p.Gly290Ala)
c.803G>C (p.Gly268Ala)
n.498G>C
c.971G>C (p.Gly324Ala)
c.782G>C (p.Gly261Ala)
n.497G>C
c.866G>C (p.Gly289Ala)
19g.41422644G=CA2336459206BCKDHAc.869G= (p.Gly290=)
c.803G= (p.Gly268=)
n.498G=
c.971G= (p.Gly324=)
c.782G= (p.Gly261=)
n.497G=
c.866G= (p.Gly289=)
19g.41422644G>TCA406013244BCKDHAc.869G>T (p.Gly290Val)
c.803G>T (p.Gly268Val)
n.498G>T
c.971G>T (p.Gly324Val)
c.782G>T (p.Gly261Val)
n.497G>T
c.866G>T (p.Gly289Val)
19g.41422645G>ACA507690686BCKDHAc.870G>A (p.Gly290=)
c.804G>A (p.Gly268=)
n.499G>A
c.972G>A (p.Gly324=)
c.783G>A (p.Gly261=)
n.498G>A
c.867G>A (p.Gly289=)
19g.41422645G>CCA507690685BCKDHAc.870G>C (p.Gly290=)
c.804G>C (p.Gly268=)
n.499G>C
c.972G>C (p.Gly324=)
c.783G>C (p.Gly261=)
n.498G>C
c.867G>C (p.Gly289=)
19g.41422645G>TCA507690684BCKDHAc.870G>T (p.Gly290=)
c.804G>T (p.Gly268=)
n.499G>T
c.972G>T (p.Gly324=)
c.783G>T (p.Gly261=)
n.498G>T
c.867G>T (p.Gly289=)
19g.41422646T>ACA406013250BCKDHAc.871T>A (p.Tyr291Asn)
c.805T>A (p.Tyr269Asn)
n.500T>A
c.973T>A (p.Tyr325Asn)
c.784T>A (p.Tyr262Asn)
n.499T>A
c.868T>A (p.Tyr290Asn)
19g.41422646T>CCA406013252BCKDHAc.871T>C (p.Tyr291His)
c.805T>C (p.Tyr269His)
n.500T>C
c.973T>C (p.Tyr325His)
c.784T>C (p.Tyr262His)
n.499T>C
c.868T>C (p.Tyr290His)
 dbSNP
19g.41422646T>GCA406013254BCKDHAc.871T>G (p.Tyr291Asp)
c.805T>G (p.Tyr269Asp)
n.500T>G
c.973T>G (p.Tyr325Asp)
c.784T>G (p.Tyr262Asp)
n.499T>G
c.868T>G (p.Tyr290Asp)
19g.41422647A=CA2336459207BCKDHAc.872A= (p.Tyr291=)
c.806A= (p.Tyr269=)
n.501A=
c.974A= (p.Tyr325=)
c.785A= (p.Tyr262=)
n.500A=
c.869A= (p.Tyr290=)
19g.41422647A>CCA406013257BCKDHAc.872A>C (p.Tyr291Ser)
c.806A>C (p.Tyr269Ser)
n.501A>C
c.974A>C (p.Tyr325Ser)
c.785A>C (p.Tyr262Ser)
n.500A>C
c.869A>C (p.Tyr290Ser)
19g.41422647A>GCA406013259BCKDHAc.872A>G (p.Tyr291Cys)
c.806A>G (p.Tyr269Cys)
n.501A>G
c.974A>G (p.Tyr325Cys)
c.785A>G (p.Tyr262Cys)
n.500A>G
c.869A>G (p.Tyr290Cys)
 dbSNP gnomAD v3 gnomAD v4
19g.41422647A>TCA406013261BCKDHAc.872A>T (p.Tyr291Phe)
c.806A>T (p.Tyr269Phe)
n.501A>T
c.974A>T (p.Tyr325Phe)
c.785A>T (p.Tyr262Phe)
n.500A>T
c.869A>T (p.Tyr290Phe)
19g.41422648T>ACA406013263BCKDHAc.873T>A (p.Tyr291Ter)
c.807T>A (p.Tyr269Ter)
n.502T>A
c.975T>A (p.Tyr325Ter)
c.786T>A (p.Tyr262Ter)
n.501T>A
c.870T>A (p.Tyr290Ter)
19g.41422648T>CCA308524731BCKDHAc.873T>C (p.Tyr291=)
c.807T>C (p.Tyr269=)
n.502T>C
c.975T>C (p.Tyr325=)
c.786T>C (p.Tyr262=)
n.501T>C
c.870T>C (p.Tyr290=)
 dbSNP gnomAD v2 gnomAD v4
19g.41422648T>GCA406013267BCKDHAc.873T>G (p.Tyr291Ter)
c.807T>G (p.Tyr269Ter)
n.502T>G
c.975T>G (p.Tyr325Ter)
c.786T>G (p.Tyr262Ter)
n.501T>G
c.870T>G (p.Tyr290Ter)
19g.41422648T=CA2336459208BCKDHAc.873T= (p.Tyr291=)
c.807T= (p.Tyr269=)
n.502T=
c.975T= (p.Tyr325=)
c.786T= (p.Tyr262=)
n.501T=
c.870T= (p.Tyr290=)
19g.41422649G>ACA406013270BCKDHAc.874G>A (p.Gly292Ser)
c.808G>A (p.Gly270Ser)
n.503G>A
c.976G>A (p.Gly326Ser)
c.787G>A (p.Gly263Ser)
n.502G>A
c.871G>A (p.Gly291Ser)
19g.41422649G>CCA406013272BCKDHAc.874G>C (p.Gly292Arg)
c.808G>C (p.Gly270Arg)
n.503G>C
c.976G>C (p.Gly326Arg)
c.787G>C (p.Gly263Arg)
n.502G>C
c.871G>C (p.Gly291Arg)
 gnomAD v4
19g.41422649G>TCA406013277BCKDHAc.874G>T (p.Gly292Cys)
c.808G>T (p.Gly270Cys)
n.503G>T
c.976G>T (p.Gly326Cys)
c.787G>T (p.Gly263Cys)
n.502G>T
c.871G>T (p.Gly291Cys)
19g.41422650G>ACA406013284BCKDHAc.875G>A (p.Gly292Asp)
c.809G>A (p.Gly270Asp)
n.504G>A
c.977G>A (p.Gly326Asp)
c.788G>A (p.Gly263Asp)
n.503G>A
c.872G>A (p.Gly291Asp)
19g.41422650G>CCA406013282BCKDHAc.875G>C (p.Gly292Ala)
c.809G>C (p.Gly270Ala)
n.504G>C
c.977G>C (p.Gly326Ala)
c.788G>C (p.Gly263Ala)
n.503G>C
c.872G>C (p.Gly291Ala)
19g.41422650G>TCA406013280BCKDHAc.875G>T (p.Gly292Val)
c.809G>T (p.Gly270Val)
n.504G>T
c.977G>T (p.Gly326Val)
c.788G>T (p.Gly263Val)
n.503G>T
c.872G>T (p.Gly291Val)
19g.41422651C>ACA507690694BCKDHAc.876C>A (p.Gly292=)
c.810C>A (p.Gly270=)
n.505C>A
c.978C>A (p.Gly326=)
c.789C>A (p.Gly263=)
n.504C>A
c.873C>A (p.Gly291=)
19g.41422651C>GCA507690692BCKDHAc.876C>G (p.Gly292=)
c.810C>G (p.Gly270=)
n.505C>G
c.978C>G (p.Gly326=)
c.789C>G (p.Gly263=)
n.504C>G
c.873C>G (p.Gly291=)
19g.41422651C>TCA507690693BCKDHAc.876C>T (p.Gly292=)
c.810C>T (p.Gly270=)
n.505C>T
c.978C>T (p.Gly326=)
c.789C>T (p.Gly263=)
n.504C>T
c.873C>T (p.Gly291=)
19g.41422652A>CCA406013286BCKDHAc.877A>C (p.Ile293Leu)
c.811A>C (p.Ile271Leu)
n.506A>C
c.979A>C (p.Ile327Leu)
c.790A>C (p.Ile264Leu)
n.505A>C
c.874A>C (p.Ile292Leu)
19g.41422652A>GCA406013287BCKDHAc.877A>G (p.Ile293Val)
c.811A>G (p.Ile271Val)
n.506A>G
c.979A>G (p.Ile327Val)
c.790A>G (p.Ile264Val)
n.505A>G
c.874A>G (p.Ile292Val)
19g.41422652A>TCA406013289BCKDHAc.877A>T (p.Ile293Phe)
c.811A>T (p.Ile271Phe)
n.506A>T
c.979A>T (p.Ile327Phe)
c.790A>T (p.Ile264Phe)
n.505A>T
c.874A>T (p.Ile292Phe)
19g.41422653T>ACA406013294BCKDHAc.878T>A (p.Ile293Asn)
c.812T>A (p.Ile271Asn)
n.507T>A
c.980T>A (p.Ile327Asn)
c.791T>A (p.Ile264Asn)
n.506T>A
c.875T>A (p.Ile292Asn)
19g.41422653T>CCA406013296BCKDHAc.878T>C (p.Ile293Thr)
c.812T>C (p.Ile271Thr)
n.507T>C
c.980T>C (p.Ile327Thr)
c.791T>C (p.Ile264Thr)
n.506T>C
c.875T>C (p.Ile292Thr)
19g.41422653T>GCA406013298BCKDHAc.878T>G (p.Ile293Ser)
c.812T>G (p.Ile271Ser)
n.507T>G
c.980T>G (p.Ile327Ser)
c.791T>G (p.Ile264Ser)
n.506T>G
c.875T>G (p.Ile292Ser)
19g.41422654C>ACA507690698BCKDHAc.879C>A (p.Ile293=)
c.813C>A (p.Ile271=)
n.508C>A
c.981C>A (p.Ile327=)
c.792C>A (p.Ile264=)
n.507C>A
c.876C>A (p.Ile292=)
19g.41422654C>GCA406013300BCKDHAc.879C>G (p.Ile293Met)
c.813C>G (p.Ile271Met)
n.508C>G
c.981C>G (p.Ile327Met)
c.792C>G (p.Ile264Met)
n.507C>G
c.876C>G (p.Ile292Met)
19g.41422654C>TCA507690699BCKDHAc.879C>T (p.Ile293=)
c.813C>T (p.Ile271=)
n.508C>T
c.981C>T (p.Ile327=)
c.792C>T (p.Ile264=)
n.507C>T
c.876C>T (p.Ile292=)
19g.41422655A=CA2336459209BCKDHAc.880A= (p.Met294=)
c.814A= (p.Met272=)
n.509A=
c.982A= (p.Met328=)
c.793A= (p.Met265=)
n.508A=
c.877A= (p.Met293=)
19g.41422655A>CCA406013303BCKDHAc.880A>C (p.Met294Leu)
c.814A>C (p.Met272Leu)
n.509A>C
c.982A>C (p.Met328Leu)
c.793A>C (p.Met265Leu)
n.508A>C
c.877A>C (p.Met293Leu)
19g.41422655A>GCA308524733BCKDHAc.880A>G (p.Met294Val)
c.814A>G (p.Met272Val)
n.509A>G
c.982A>G (p.Met328Val)
c.793A>G (p.Met265Val)
n.508A>G
c.877A>G (p.Met293Val)
 dbSNP gnomAD v2 gnomAD v4
19g.41422655A>TCA406013306BCKDHAc.880A>T (p.Met294Leu)
c.814A>T (p.Met272Leu)
n.509A>T
c.982A>T (p.Met328Leu)
c.793A>T (p.Met265Leu)
n.508A>T
c.877A>T (p.Met293Leu)
19g.41422656T>ACA406013308BCKDHAc.881T>A (p.Met294Lys)
c.815T>A (p.Met272Lys)
n.510T>A
c.983T>A (p.Met328Lys)
c.794T>A (p.Met265Lys)
n.509T>A
c.878T>A (p.Met293Lys)
19g.41422656T>CCA406013310BCKDHAc.881T>C (p.Met294Thr)
c.815T>C (p.Met272Thr)
n.510T>C
c.983T>C (p.Met328Thr)
c.794T>C (p.Met265Thr)
n.509T>C
c.878T>C (p.Met293Thr)
 gnomAD v4
19g.41422656T>GCA406013312BCKDHAc.881T>G (p.Met294Arg)
c.815T>G (p.Met272Arg)
n.510T>G
c.983T>G (p.Met328Arg)
c.794T>G (p.Met265Arg)
n.509T>G
c.878T>G (p.Met293Arg)
19g.41422657G>ACA406013318BCKDHAc.882G>A (p.Met294Ile)
c.816G>A (p.Met272Ile)
n.511G>A
c.984G>A (p.Met328Ile)
c.795G>A (p.Met265Ile)
n.510G>A
c.879G>A (p.Met293Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422657G>CCA406013316BCKDHAc.882G>C (p.Met294Ile)
c.816G>C (p.Met272Ile)
n.511G>C
c.984G>C (p.Met328Ile)
c.795G>C (p.Met265Ile)
n.510G>C
c.879G>C (p.Met293Ile)
19g.41422657G=CA2336459210BCKDHAc.882G= (p.Met294=)
c.816G= (p.Met272=)
n.511G=
c.984G= (p.Met328=)
c.795G= (p.Met265=)
n.510G=
c.879G= (p.Met293=)
19g.41422657G>TCA406013317BCKDHAc.882G>T (p.Met294Ile)
c.816G>T (p.Met272Ile)
n.511G>T
c.984G>T (p.Met328Ile)
c.795G>T (p.Met265Ile)
n.510G>T
c.879G>T (p.Met293Ile)
19g.41422658T>ACA406013319BCKDHAc.883T>A (p.Ser295Thr)
c.817T>A (p.Ser273Thr)
n.512T>A
c.985T>A (p.Ser329Thr)
c.796T>A (p.Ser266Thr)
n.511T>A
c.880T>A (p.Ser294Thr)
19g.41422658T>CCA406013320BCKDHAc.883T>C (p.Ser295Pro)
c.817T>C (p.Ser273Pro)
n.512T>C
c.985T>C (p.Ser329Pro)
c.796T>C (p.Ser266Pro)
n.511T>C
c.880T>C (p.Ser294Pro)
19g.41422658T>GCA406013321BCKDHAc.883T>G (p.Ser295Ala)
c.817T>G (p.Ser273Ala)
n.512T>G
c.985T>G (p.Ser329Ala)
c.796T>G (p.Ser266Ala)
n.511T>G
c.880T>G (p.Ser294Ala)
19g.41422659C>ACA406013322BCKDHAc.884C>A (p.Ser295Ter)
c.818C>A (p.Ser273Ter)
n.513C>A
c.986C>A (p.Ser329Ter)
c.797C>A (p.Ser266Ter)
n.512C>A
c.881C>A (p.Ser294Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422659C=CA2336459211BCKDHAc.884C= (p.Ser295=)
c.818C= (p.Ser273=)
n.513C=
c.986C= (p.Ser329=)
c.797C= (p.Ser266=)
n.512C=
c.881C= (p.Ser294=)
19g.41422659C>GCA406013323BCKDHAc.884C>G (p.Ser295Ter)
c.818C>G (p.Ser273Ter)
n.513C>G
c.986C>G (p.Ser329Ter)
c.797C>G (p.Ser266Ter)
n.512C>G
c.881C>G (p.Ser294Ter)
19g.41422659C>TCA406013324BCKDHAc.884C>T (p.Ser295Leu)
c.818C>T (p.Ser273Leu)
n.513C>T
c.986C>T (p.Ser329Leu)
c.797C>T (p.Ser266Leu)
n.512C>T
c.881C>T (p.Ser294Leu)
19g.41422660A>CCA507690700BCKDHAc.885A>C (p.Ser295=)
c.819A>C (p.Ser273=)
n.514A>C
c.987A>C (p.Ser329=)
c.798A>C (p.Ser266=)
n.513A>C
c.882A>C (p.Ser294=)
19g.41422660A>GCA507690701BCKDHAc.885A>G (p.Ser295=)
c.819A>G (p.Ser273=)
n.514A>G
c.987A>G (p.Ser329=)
c.798A>G (p.Ser266=)
n.513A>G
c.882A>G (p.Ser294=)
 gnomAD v4
19g.41422660A>TCA507690702BCKDHAc.885A>T (p.Ser295=)
c.819A>T (p.Ser273=)
n.514A>T
c.987A>T (p.Ser329=)
c.798A>T (p.Ser266=)
n.513A>T
c.882A>T (p.Ser294=)
19g.41422661A=CA2336459212BCKDHAc.886A= (p.Ile296=)
c.820A= (p.Ile274=)
n.515A=
c.988A= (p.Ile330=)
c.799A= (p.Ile267=)
n.514A=
c.883A= (p.Ile295=)
19g.41422661A>CCA406013325BCKDHAc.886A>C (p.Ile296Leu)
c.820A>C (p.Ile274Leu)
n.515A>C
c.988A>C (p.Ile330Leu)
c.799A>C (p.Ile267Leu)
n.514A>C
c.883A>C (p.Ile295Leu)
19g.41422661A>GCA406013326BCKDHAc.886A>G (p.Ile296Val)
c.820A>G (p.Ile274Val)
n.515A>G
c.988A>G (p.Ile330Val)
c.799A>G (p.Ile267Val)
n.514A>G
c.883A>G (p.Ile295Val)
 dbSNP gnomAD v3 gnomAD v4
19g.41422661A>TCA406013327BCKDHAc.886A>T (p.Ile296Phe)
c.820A>T (p.Ile274Phe)
n.515A>T
c.988A>T (p.Ile330Phe)
c.799A>T (p.Ile267Phe)
n.514A>T
c.883A>T (p.Ile295Phe)
19g.41422662T>ACA406013328BCKDHAc.887T>A (p.Ile296Asn)
c.821T>A (p.Ile274Asn)
n.516T>A
c.989T>A (p.Ile330Asn)
c.800T>A (p.Ile267Asn)
n.515T>A
c.884T>A (p.Ile295Asn)
19g.41422662T>CCA406013329BCKDHAc.887T>C (p.Ile296Thr)
c.821T>C (p.Ile274Thr)
n.516T>C
c.989T>C (p.Ile330Thr)
c.800T>C (p.Ile267Thr)
n.515T>C
c.884T>C (p.Ile295Thr)
19g.41422662T>GCA406013330BCKDHAc.887T>G (p.Ile296Ser)
c.821T>G (p.Ile274Ser)
n.516T>G
c.989T>G (p.Ile330Ser)
c.800T>G (p.Ile267Ser)
n.515T>G
c.884T>G (p.Ile295Ser)
19g.41422662_41422669delCA658820684BCKDHAc.887_894del (p.Ile296ArgfsTer3)
c.821_828del (p.Ile274ArgfsTer3)
n.516_523del
c.989_996del (p.Ile330ArgfsTer3)
c.800_807del (p.Ile267ArgfsTer3)
n.515_522del
c.884_891del (p.Ile295ArgfsTer3)
19g.41422663C>ACA507690703BCKDHAc.888C>A (p.Ile296=)
c.822C>A (p.Ile274=)
n.517C>A
c.990C>A (p.Ile330=)
c.801C>A (p.Ile267=)
n.516C>A
c.885C>A (p.Ile295=)
19g.41422663C=CA2336459213BCKDHAc.888C= (p.Ile296=)
c.822C= (p.Ile274=)
n.517C=
c.990C= (p.Ile330=)
c.801C= (p.Ile267=)
n.516C=
c.885C= (p.Ile295=)
19g.41422663C>GCA406013331BCKDHAc.888C>G (p.Ile296Met)
c.822C>G (p.Ile274Met)
n.517C>G
c.990C>G (p.Ile330Met)
c.801C>G (p.Ile267Met)
n.516C>G
c.885C>G (p.Ile295Met)
19g.41422663C>TCA507690704BCKDHAc.888C>T (p.Ile296=)
c.822C>T (p.Ile274=)
n.517C>T
c.990C>T (p.Ile330=)
c.801C>T (p.Ile267=)
n.516C>T
c.885C>T (p.Ile295=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422664C>ACA406013332BCKDHAc.889C>A (p.Arg297Ser)
c.823C>A (p.Arg275Ser)
n.518C>A
c.991C>A (p.Arg331Ser)
c.802C>A (p.Arg268Ser)
n.517C>A
c.886C>A (p.Arg296Ser)
19g.41422664C=CA2336459214BCKDHAc.889C= (p.Arg297=)
c.823C= (p.Arg275=)
n.518C=
c.991C= (p.Arg331=)
c.802C= (p.Arg268=)
n.517C=
c.886C= (p.Arg296=)
19g.41422664C>GCA406013333BCKDHAc.889C>G (p.Arg297Gly)
c.823C>G (p.Arg275Gly)
n.518C>G
c.991C>G (p.Arg331Gly)
c.802C>G (p.Arg268Gly)
n.517C>G
c.886C>G (p.Arg296Gly)
19g.41422664C>TCA9461294BCKDHAc.889C>T (p.Arg297Cys)
c.823C>T (p.Arg275Cys)
n.518C>T
c.991C>T (p.Arg331Cys)
c.802C>T (p.Arg268Cys)
n.517C>T
c.886C>T (p.Arg296Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422665G>ACA221222BCKDHAc.890G>A (p.Arg297His)
c.824G>A (p.Arg275His)
n.519G>A
c.992G>A (p.Arg331His)
c.803G>A (p.Arg268His)
n.518G>A
c.887G>A (p.Arg296His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422665G>CCA406013334BCKDHAc.890G>C (p.Arg297Pro)
c.824G>C (p.Arg275Pro)
n.519G>C
c.992G>C (p.Arg331Pro)
c.803G>C (p.Arg268Pro)
n.518G>C
c.887G>C (p.Arg296Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.41422665G=CA2336459215BCKDHAc.890G= (p.Arg297=)
c.824G= (p.Arg275=)
n.519G=
c.992G= (p.Arg331=)
c.803G= (p.Arg268=)
n.518G=
c.887G= (p.Arg296=)
19g.41422665G>TCA406013335BCKDHAc.890G>T (p.Arg297Leu)
c.824G>T (p.Arg275Leu)
n.519G>T
c.992G>T (p.Arg331Leu)
c.803G>T (p.Arg268Leu)
n.518G>T
c.887G>T (p.Arg296Leu)
19g.41422666C>ACA507690705BCKDHAc.891C>A (p.Arg297=)
c.825C>A (p.Arg275=)
n.520C>A
c.993C>A (p.Arg331=)
c.804C>A (p.Arg268=)
n.519C>A
c.888C>A (p.Arg296=)
19g.41422666C=CA2336459216BCKDHAc.891C= (p.Arg297=)
c.825C= (p.Arg275=)
n.520C=
c.993C= (p.Arg331=)
c.804C= (p.Arg268=)
n.519C=
c.888C= (p.Arg296=)
19g.41422666C>GCA507690706BCKDHAc.891C>G (p.Arg297=)
c.825C>G (p.Arg275=)
n.520C>G
c.993C>G (p.Arg331=)
c.804C>G (p.Arg268=)
n.519C>G
c.888C>G (p.Arg296=)
19g.41422666C>TCA9461295BCKDHAc.891C>T (p.Arg297=)
c.825C>T (p.Arg275=)
n.520C>T
c.993C>T (p.Arg331=)
c.804C>T (p.Arg268=)
n.519C>T
c.888C>T (p.Arg296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422667G>ACA406013336BCKDHAc.892G>A (p.Val298Met)
c.826G>A (p.Val276Met)
n.521G>A
c.994G>A (p.Val332Met)
c.805G>A (p.Val269Met)
n.520G>A
c.889G>A (p.Val297Met)
 ClinVar dbSNP gnomAD v4
19g.41422667G>CCA406013337BCKDHAc.892G>C (p.Val298Leu)
c.826G>C (p.Val276Leu)
n.521G>C
c.994G>C (p.Val332Leu)
c.805G>C (p.Val269Leu)
n.520G>C
c.889G>C (p.Val297Leu)
19g.41422667G=CA2336459217BCKDHAc.892G= (p.Val298=)
c.826G= (p.Val276=)
n.521G=
c.994G= (p.Val332=)
c.805G= (p.Val269=)
n.520G=
c.889G= (p.Val297=)
19g.41422667G>TCA406013338BCKDHAc.892G>T (p.Val298Leu)
c.826G>T (p.Val276Leu)
n.521G>T
c.994G>T (p.Val332Leu)
c.805G>T (p.Val269Leu)
n.520G>T
c.889G>T (p.Val297Leu)
 gnomAD v4
19g.41422668T>ACA406013339BCKDHAc.893T>A (p.Val298Glu)
c.827T>A (p.Val276Glu)
n.522T>A
c.995T>A (p.Val332Glu)
c.806T>A (p.Val269Glu)
n.521T>A
c.890T>A (p.Val297Glu)
19g.41422668T>CCA406013340BCKDHAc.893T>C (p.Val298Ala)
c.827T>C (p.Val276Ala)
n.522T>C
c.995T>C (p.Val332Ala)
c.806T>C (p.Val269Ala)
n.521T>C
c.890T>C (p.Val297Ala)
19g.41422668T>GCA406013341BCKDHAc.893T>G (p.Val298Gly)
c.827T>G (p.Val276Gly)
n.522T>G
c.995T>G (p.Val332Gly)
c.806T>G (p.Val269Gly)
n.521T>G
c.890T>G (p.Val297Gly)
19g.41422669G>ACA507690707BCKDHAc.894G>A (p.Val298=)
c.828G>A (p.Val276=)
n.523G>A
c.996G>A (p.Val332=)
c.807G>A (p.Val269=)
n.522G>A
c.891G>A (p.Val297=)
19g.41422669G>CCA507690708BCKDHAc.894G>C (p.Val298=)
c.828G>C (p.Val276=)
n.523G>C
c.996G>C (p.Val332=)
c.807G>C (p.Val269=)
n.522G>C
c.891G>C (p.Val297=)
19g.41422669G>TCA507690709BCKDHAc.894G>T (p.Val298=)
c.828G>T (p.Val276=)
n.523G>T
c.996G>T (p.Val332=)
c.807G>T (p.Val269=)
n.522G>T
c.891G>T (p.Val297=)
19g.41422670G>ACA406013342BCKDHAc.895G>A (p.Asp299Asn)
c.829G>A (p.Asp277Asn)
n.524G>A
c.997G>A (p.Asp333Asn)
c.808G>A (p.Asp270Asn)
n.523G>A
c.892G>A (p.Asp298Asn)
19g.41422670G>CCA406013343BCKDHAc.895G>C (p.Asp299His)
c.829G>C (p.Asp277His)
n.524G>C
c.997G>C (p.Asp333His)
c.808G>C (p.Asp270His)
n.523G>C
c.892G>C (p.Asp298His)
19g.41422670G>TCA406013344BCKDHAc.895G>T (p.Asp299Tyr)
c.829G>T (p.Asp277Tyr)
n.524G>T
c.997G>T (p.Asp333Tyr)
c.808G>T (p.Asp270Tyr)
n.523G>T
c.892G>T (p.Asp298Tyr)
19g.41422671A>CCA406013345BCKDHAc.896A>C (p.Asp299Ala)
c.830A>C (p.Asp277Ala)
n.525A>C
c.998A>C (p.Asp333Ala)
c.809A>C (p.Asp270Ala)
n.524A>C
c.893A>C (p.Asp298Ala)
19g.41422671A>GCA406013346BCKDHAc.896A>G (p.Asp299Gly)
c.830A>G (p.Asp277Gly)
n.525A>G
c.998A>G (p.Asp333Gly)
c.809A>G (p.Asp270Gly)
n.524A>G
c.893A>G (p.Asp298Gly)
19g.41422671A>TCA406013347BCKDHAc.896A>T (p.Asp299Val)
c.830A>T (p.Asp277Val)
n.525A>T
c.998A>T (p.Asp333Val)
c.809A>T (p.Asp270Val)
n.524A>T
c.893A>T (p.Asp298Val)
19g.41422672T>ACA406013348BCKDHAc.897T>A (p.Asp299Glu)
c.831T>A (p.Asp277Glu)
n.526T>A
c.999T>A (p.Asp333Glu)
c.810T>A (p.Asp270Glu)
n.525T>A
c.894T>A (p.Asp298Glu)
19g.41422672T>CCA507690710BCKDHAc.897T>C (p.Asp299=)
c.831T>C (p.Asp277=)
n.526T>C
c.999T>C (p.Asp333=)
c.810T>C (p.Asp270=)
n.525T>C
c.894T>C (p.Asp298=)
 dbSNP
19g.41422672T>GCA406013350BCKDHAc.897T>G (p.Asp299Glu)
c.831T>G (p.Asp277Glu)
n.526T>G
c.999T>G (p.Asp333Glu)
c.810T>G (p.Asp270Glu)
n.525T>G
c.894T>G (p.Asp298Glu)
19g.41422672T=CA2336459218BCKDHAc.897T= (p.Asp299=)
c.831T= (p.Asp277=)
n.526T=
c.999T= (p.Asp333=)
c.810T= (p.Asp270=)
n.525T=
c.894T= (p.Asp298=)
19g.41422673G>ACA406013351BCKDHAc.898G>A (p.Gly300Ser)
c.832G>A (p.Gly278Ser)
n.527G>A
c.1000G>A (p.Gly334Ser)
c.811G>A (p.Gly271Ser)
n.526G>A
c.895G>A (p.Gly299Ser)
19g.41422673G>CCA406013352BCKDHAc.898G>C (p.Gly300Arg)
c.832G>C (p.Gly278Arg)
n.527G>C
c.1000G>C (p.Gly334Arg)
c.811G>C (p.Gly271Arg)
n.526G>C
c.895G>C (p.Gly299Arg)
19g.41422673G>TCA406013353BCKDHAc.898G>T (p.Gly300Cys)
c.832G>T (p.Gly278Cys)
n.527G>T
c.1000G>T (p.Gly334Cys)
c.811G>T (p.Gly271Cys)
n.526G>T
c.895G>T (p.Gly299Cys)
19g.41422674G>ACA9461296BCKDHAc.899G>A (p.Gly300Asp)
c.833G>A (p.Gly278Asp)
n.528G>A
c.1001G>A (p.Gly334Asp)
c.812G>A (p.Gly271Asp)
n.527G>A
c.896G>A (p.Gly299Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41422674G>CCA406013354BCKDHAc.899G>C (p.Gly300Ala)
c.833G>C (p.Gly278Ala)
n.528G>C
c.1001G>C (p.Gly334Ala)
c.812G>C (p.Gly271Ala)
n.527G>C
c.896G>C (p.Gly299Ala)
19g.41422674G=CA2336459219BCKDHAc.899G= (p.Gly300=)
c.833G= (p.Gly278=)
n.528G=
c.1001G= (p.Gly334=)
c.812G= (p.Gly271=)
n.527G=
c.896G= (p.Gly299=)
19g.41422674G>TCA406013355BCKDHAc.899G>T (p.Gly300Val)
c.833G>T (p.Gly278Val)
n.528G>T
c.1001G>T (p.Gly334Val)
c.812G>T (p.Gly271Val)
n.527G>T
c.896G>T (p.Gly299Val)
19g.41422675T>ACA507690711BCKDHAc.900T>A (p.Gly300=)
c.834T>A (p.Gly278=)
n.529T>A
c.1002T>A (p.Gly334=)
c.813T>A (p.Gly271=)
n.528T>A
c.897T>A (p.Gly299=)
19g.41422675T>CCA507690712BCKDHAc.900T>C (p.Gly300=)
c.834T>C (p.Gly278=)
n.529T>C
c.1002T>C (p.Gly334=)
c.813T>C (p.Gly271=)
n.528T>C
c.897T>C (p.Gly299=)
19g.41422675T>GCA507690713BCKDHAc.900T>G (p.Gly300=)
c.834T>G (p.Gly278=)
n.529T>G
c.1002T>G (p.Gly334=)
c.813T>G (p.Gly271=)
n.528T>G
c.897T>G (p.Gly299=)
19g.41422676A=CA2336459220BCKDHAc.901A= (p.Asn301=)
c.835A= (p.Asn279=)
n.530A=
c.1003A= (p.Asn335=)
c.814A= (p.Asn272=)
n.529A=
c.898A= (p.Asn300=)
19g.41422676A>CCA406013356BCKDHAc.901A>C (p.Asn301His)
c.835A>C (p.Asn279His)
n.530A>C
c.1003A>C (p.Asn335His)
c.814A>C (p.Asn272His)
n.529A>C
c.898A>C (p.Asn300His)
19g.41422676A>GCA406013357BCKDHAc.901A>G (p.Asn301Asp)
c.835A>G (p.Asn279Asp)
n.530A>G
c.1003A>G (p.Asn335Asp)
c.814A>G (p.Asn272Asp)
n.529A>G
c.898A>G (p.Asn300Asp)
 dbSNP
19g.41422676A>TCA406013358BCKDHAc.901A>T (p.Asn301Tyr)
c.835A>T (p.Asn279Tyr)
n.530A>T
c.1003A>T (p.Asn335Tyr)
c.814A>T (p.Asn272Tyr)
n.529A>T
c.898A>T (p.Asn300Tyr)
19g.41422677A>CCA406013359BCKDHAc.902A>C (p.Asn301Thr)
c.836A>C (p.Asn279Thr)
n.531A>C
c.1004A>C (p.Asn335Thr)
c.815A>C (p.Asn272Thr)
n.530A>C
c.899A>C (p.Asn300Thr)
19g.41422677A>GCA406013360BCKDHAc.902A>G (p.Asn301Ser)
c.836A>G (p.Asn279Ser)
n.531A>G
c.1004A>G (p.Asn335Ser)
c.815A>G (p.Asn272Ser)
n.530A>G
c.899A>G (p.Asn300Ser)
 gnomAD v4
19g.41422677A>TCA406013361BCKDHAc.902A>T (p.Asn301Ile)
c.836A>T (p.Asn279Ile)
n.531A>T
c.1004A>T (p.Asn335Ile)
c.815A>T (p.Asn272Ile)
n.530A>T
c.899A>T (p.Asn300Ile)
19g.41422680_41422682delCA2585308118BCKDHAc.905_907del (p.Asp302del)
c.839_841del (p.Asp280del)
n.534_536del
c.1007_1009del (p.Asp336del)
c.818_820del (p.Asp273del)
n.533_535del
c.902_904del (p.Asp301del)
 gnomAD v4
19g.41422678T>ACA406013363BCKDHAc.903T>A (p.Asn301Lys)
c.837T>A (p.Asn279Lys)
n.532T>A
c.1005T>A (p.Asn335Lys)
c.816T>A (p.Asn272Lys)
n.531T>A
c.900T>A (p.Asn300Lys)
19g.41422678T>CCA507690714BCKDHAc.903T>C (p.Asn301=)
c.837T>C (p.Asn279=)
n.532T>C
c.1005T>C (p.Asn335=)
c.816T>C (p.Asn272=)
n.531T>C
c.900T>C (p.Asn300=)
 gnomAD v4
19g.41422678T>GCA406013362BCKDHAc.903T>G (p.Asn301Lys)
c.837T>G (p.Asn279Lys)
n.532T>G
c.1005T>G (p.Asn335Lys)
c.816T>G (p.Asn272Lys)
n.531T>G
c.900T>G (p.Asn300Lys)
19g.41422679G>ACA406013364BCKDHAc.904G>A (p.Asp302Asn)
c.838G>A (p.Asp280Asn)
n.533G>A
c.1006G>A (p.Asp336Asn)
c.817G>A (p.Asp273Asn)
n.532G>A
c.901G>A (p.Asp301Asn)
 ClinVar
19g.41422679G>CCA406013365BCKDHAc.904G>C (p.Asp302His)
c.838G>C (p.Asp280His)
n.533G>C
c.1006G>C (p.Asp336His)
c.817G>C (p.Asp273His)
n.532G>C
c.901G>C (p.Asp301His)
19g.41422679G>TCA406013366BCKDHAc.904G>T (p.Asp302Tyr)
c.838G>T (p.Asp280Tyr)
n.533G>T
c.1006G>T (p.Asp336Tyr)
c.817G>T (p.Asp273Tyr)
n.532G>T
c.901G>T (p.Asp301Tyr)
19g.41422680A=CA2336459221BCKDHAc.905A= (p.Asp302=)
c.839A= (p.Asp280=)
n.534A=
c.1007A= (p.Asp336=)
c.818A= (p.Asp273=)
n.533A=
c.902A= (p.Asp301=)
19g.41422680A>CCA221224BCKDHAc.905A>C (p.Asp302Ala)
c.839A>C (p.Asp280Ala)
n.534A>C
c.1007A>C (p.Asp336Ala)
c.818A>C (p.Asp273Ala)
n.533A>C
c.902A>C (p.Asp301Ala)
 ClinVar dbSNP gnomAD v4
19g.41422680A>GCA406013367BCKDHAc.905A>G (p.Asp302Gly)
c.839A>G (p.Asp280Gly)
n.534A>G
c.1007A>G (p.Asp336Gly)
c.818A>G (p.Asp273Gly)
n.533A>G
c.902A>G (p.Asp301Gly)
 ClinVar
19g.41422680A>TCA406013368BCKDHAc.905A>T (p.Asp302Val)
c.839A>T (p.Asp280Val)
n.534A>T
c.1007A>T (p.Asp336Val)
c.818A>T (p.Asp273Val)
n.533A>T
c.902A>T (p.Asp301Val)
19g.41422680_41422682delinsATGCA2336459222BCKDHAc.905_907delinsATG (p.Asp302=)
c.839_841delinsATG (p.Asp280=)
n.534_536delinsATG
c.1007_1009delinsATG (p.Asp336=)
c.818_820delinsATG (p.Asp273=)
n.533_535delinsATG
c.902_904delinsATG (p.Asp301=)
19g.41422681T>ACA406013369BCKDHAc.906T>A (p.Asp302Glu)
c.840T>A (p.Asp280Glu)
n.535T>A
c.1008T>A (p.Asp336Glu)
c.819T>A (p.Asp273Glu)
n.534T>A
c.903T>A (p.Asp301Glu)
 ClinVar
19g.41422681T>CCA507690715BCKDHAc.906T>C (p.Asp302=)
c.840T>C (p.Asp280=)
n.535T>C
c.1008T>C (p.Asp336=)
c.819T>C (p.Asp273=)
n.534T>C
c.903T>C (p.Asp301=)
19g.41422681T>GCA406013370BCKDHAc.906T>G (p.Asp302Glu)
c.840T>G (p.Asp280Glu)
n.535T>G
c.1008T>G (p.Asp336Glu)
c.819T>G (p.Asp273Glu)
n.534T>G
c.903T>G (p.Asp301Glu)
19g.41422684_41422685delCA221226BCKDHAc.909_910del (p.Phe304CysfsTer?)
c.843_844del (p.Phe282CysfsTer?)
n.538_539del
c.1011_1012del (p.Phe338CysfsTer?)
c.822_823del (p.Phe275CysfsTer?)
n.537_538del
c.906_907del (p.Phe303CysfsTer?)
 ClinVar dbSNP
19g.41422682G>ACA406013371BCKDHAc.907G>A (p.Val303Met)
c.841G>A (p.Val281Met)
n.536G>A
c.1009G>A (p.Val337Met)
c.820G>A (p.Val274Met)
n.535G>A
c.904G>A (p.Val302Met)
19g.41422682G>CCA406013372BCKDHAc.907G>C (p.Val303Leu)
c.841G>C (p.Val281Leu)
n.536G>C
c.1009G>C (p.Val337Leu)
c.820G>C (p.Val274Leu)
n.535G>C
c.904G>C (p.Val302Leu)
19g.41422682G>TCA406013373BCKDHAc.907G>T (p.Val303Leu)
c.841G>T (p.Val281Leu)
n.536G>T
c.1009G>T (p.Val337Leu)
c.820G>T (p.Val274Leu)
n.535G>T
c.904G>T (p.Val302Leu)
19g.41422683T>ACA406013374BCKDHAc.908T>A (p.Val303Glu)
c.842T>A (p.Val281Glu)
n.537T>A
c.1010T>A (p.Val337Glu)
c.821T>A (p.Val274Glu)
n.536T>A
c.905T>A (p.Val302Glu)
19g.41422683T>CCA406013375BCKDHAc.908T>C (p.Val303Ala)
c.842T>C (p.Val281Ala)
n.537T>C
c.1010T>C (p.Val337Ala)
c.821T>C (p.Val274Ala)
n.536T>C
c.905T>C (p.Val302Ala)
19g.41422683T>GCA406013376BCKDHAc.908T>G (p.Val303Gly)
c.842T>G (p.Val281Gly)
n.537T>G
c.1010T>G (p.Val337Gly)
c.821T>G (p.Val274Gly)
n.536T>G
c.905T>G (p.Val302Gly)
19g.41422684G>ACA507690716BCKDHAc.909G>A (p.Val303=)
c.843G>A (p.Val281=)
n.538G>A
c.1011G>A (p.Val337=)
c.822G>A (p.Val274=)
n.537G>A
c.906G>A (p.Val302=)
19g.41422684G>CCA507690717BCKDHAc.909G>C (p.Val303=)
c.843G>C (p.Val281=)
n.538G>C
c.1011G>C (p.Val337=)
c.822G>C (p.Val274=)
n.537G>C
c.906G>C (p.Val302=)
19g.41422684G>TCA507690718BCKDHAc.909G>T (p.Val303=)
c.843G>T (p.Val281=)
n.538G>T
c.1011G>T (p.Val337=)
c.822G>T (p.Val274=)
n.537G>T
c.906G>T (p.Val302=)
19g.41422684_41422685delinsGTCA2336459223BCKDHAc.909_910delinsGT (p.Val303=)
c.843_844delinsGT (p.Val281=)
n.538_539delinsGT
c.1011_1012delinsGT (p.Val337=)
c.822_823delinsGT (p.Val274=)
n.537_538delinsGT
c.906_907delinsGT (p.Val302=)
19g.41422685T>ACA406013377BCKDHAc.910T>A (p.Phe304Ile)
c.844T>A (p.Phe282Ile)
n.539T>A
c.1012T>A (p.Phe338Ile)
c.823T>A (p.Phe275Ile)
n.538T>A
c.907T>A (p.Phe303Ile)
19g.41422685T>CCA221227BCKDHAc.910T>C (p.Phe304Leu)
c.844T>C (p.Phe282Leu)
n.539T>C
c.1012T>C (p.Phe338Leu)
c.823T>C (p.Phe275Leu)
n.538T>C
c.907T>C (p.Phe303Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422685T>GCA406013378BCKDHAc.910T>G (p.Phe304Val)
c.844T>G (p.Phe282Val)
n.539T>G
c.1012T>G (p.Phe338Val)
c.823T>G (p.Phe275Val)
n.538T>G
c.907T>G (p.Phe303Val)
19g.41422685T=CA2336459224BCKDHAc.910T= (p.Phe304=)
c.844T= (p.Phe282=)
n.539T=
c.1012T= (p.Phe338=)
c.823T= (p.Phe275=)
n.538T=
c.907T= (p.Phe303=)
19g.41422687delCA882349820BCKDHAc.912del (p.Phe304LeufsTer26)
c.846del (p.Phe282LeufsTer26)
n.541del
c.1014del (p.Phe338LeufsTer26)
c.825del (p.Phe275LeufsTer26)
n.540del
c.912del (p.Phe304LeufsTer30)
c.909del (p.Phe303LeufsTer26)
 dbSNP gnomAD v3 gnomAD v4
19g.41422686T>ACA406013379BCKDHAc.911T>A (p.Phe304Tyr)
c.845T>A (p.Phe282Tyr)
n.540T>A
c.1013T>A (p.Phe338Tyr)
c.824T>A (p.Phe275Tyr)
n.539T>A
c.908T>A (p.Phe303Tyr)
19g.41422686T>CCA406013381BCKDHAc.911T>C (p.Phe304Ser)
c.845T>C (p.Phe282Ser)
n.540T>C
c.1013T>C (p.Phe338Ser)
c.824T>C (p.Phe275Ser)
n.539T>C
c.908T>C (p.Phe303Ser)
19g.41422686T>GCA406013380BCKDHAc.911T>G (p.Phe304Cys)
c.845T>G (p.Phe282Cys)
n.540T>G
c.1013T>G (p.Phe338Cys)
c.824T>G (p.Phe275Cys)
n.539T>G
c.908T>G (p.Phe303Cys)
19g.41422687T>ACA406013382BCKDHAc.912T>A (p.Phe304Leu)
c.846T>A (p.Phe282Leu)
n.541T>A
c.1014T>A (p.Phe338Leu)
c.825T>A (p.Phe275Leu)
n.540T>A
c.909T>A (p.Phe303Leu)
19g.41422687T>CCA507690719BCKDHAc.912T>C (p.Phe304=)
c.846T>C (p.Phe282=)
n.541T>C
c.1014T>C (p.Phe338=)
c.825T>C (p.Phe275=)
n.540T>C
c.909T>C (p.Phe303=)
19g.41422687T>GCA406013383BCKDHAc.912T>G (p.Phe304Leu)
c.846T>G (p.Phe282Leu)
n.541T>G
c.1014T>G (p.Phe338Leu)
c.825T>G (p.Phe275Leu)
n.540T>G
c.909T>G (p.Phe303Leu)
19g.41422688G>ACA406013384BCKDHAc.913G>A (p.Ala305Thr)
c.847G>A (p.Ala283Thr)
n.542G>A
c.1015G>A (p.Ala339Thr)
c.826G>A (p.Ala276Thr)
n.541G>A
c.910G>A (p.Ala304Thr)
19g.41422688G>CCA406013385BCKDHAc.913G>C (p.Ala305Pro)
c.847G>C (p.Ala283Pro)
n.542G>C
c.1015G>C (p.Ala339Pro)
c.826G>C (p.Ala276Pro)
n.541G>C
c.910G>C (p.Ala304Pro)
19g.41422688G>TCA406013386BCKDHAc.913G>T (p.Ala305Ser)
c.847G>T (p.Ala283Ser)
n.542G>T
c.1015G>T (p.Ala339Ser)
c.826G>T (p.Ala276Ser)
n.541G>T
c.910G>T (p.Ala304Ser)
19g.41422689C>ACA406013387BCKDHAc.914C>A (p.Ala305Asp)
c.848C>A (p.Ala283Asp)
n.543C>A
c.1016C>A (p.Ala339Asp)
c.827C>A (p.Ala276Asp)
n.542C>A
c.911C>A (p.Ala304Asp)
19g.41422689C=CA2336459225BCKDHAc.914C= (p.Ala305=)
c.848C= (p.Ala283=)
n.543C=
c.1016C= (p.Ala339=)
c.827C= (p.Ala276=)
n.542C=
c.911C= (p.Ala304=)
19g.41422689C>GCA406013388BCKDHAc.914C>G (p.Ala305Gly)
c.848C>G (p.Ala283Gly)
n.543C>G
c.1016C>G (p.Ala339Gly)
c.827C>G (p.Ala276Gly)
n.542C>G
c.911C>G (p.Ala304Gly)
19g.41422689C>TCA308524778BCKDHAc.914C>T (p.Ala305Val)
c.848C>T (p.Ala283Val)
n.543C>T
c.1016C>T (p.Ala339Val)
c.827C>T (p.Ala276Val)
n.542C>T
c.911C>T (p.Ala304Val)
 dbSNP
19g.41422690C>ACA507690720BCKDHAc.915C>A (p.Ala305=)
c.849C>A (p.Ala283=)
n.544C>A
c.1017C>A (p.Ala339=)
c.828C>A (p.Ala276=)
n.543C>A
c.912C>A (p.Ala304=)
19g.41422690C=CA2336459226BCKDHAc.915C= (p.Ala305=)
c.849C= (p.Ala283=)
n.544C=
c.1017C= (p.Ala339=)
c.828C= (p.Ala276=)
n.543C=
c.912C= (p.Ala304=)
19g.41422690C>GCA507690721BCKDHAc.915C>G (p.Ala305=)
c.849C>G (p.Ala283=)
n.544C>G
c.1017C>G (p.Ala339=)
c.828C>G (p.Ala276=)
n.543C>G
c.912C>G (p.Ala304=)
19g.41422690C>TCA9461297BCKDHAc.915C>T (p.Ala305=)
c.849C>T (p.Ala283=)
n.544C>T
c.1017C>T (p.Ala339=)
c.828C>T (p.Ala276=)
n.543C>T
c.912C>T (p.Ala304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422691G>ACA406013391BCKDHAc.916G>A (p.Val306Ile)
c.850G>A (p.Val284Ile)
n.545G>A
c.1018G>A (p.Val340Ile)
c.829G>A (p.Val277Ile)
n.544G>A
c.913G>A (p.Val305Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422691G>CCA406013389BCKDHAc.916G>C (p.Val306Leu)
c.850G>C (p.Val284Leu)
n.545G>C
c.1018G>C (p.Val340Leu)
c.829G>C (p.Val277Leu)
n.544G>C
c.913G>C (p.Val305Leu)
19g.41422691G=CA2336459228BCKDHAc.916G= (p.Val306=)
c.850G= (p.Val284=)
n.545G=
c.1018G= (p.Val340=)
c.829G= (p.Val277=)
n.544G=
c.913G= (p.Val305=)
19g.41422691G>TCA406013390BCKDHAc.916G>T (p.Val306Leu)
c.850G>T (p.Val284Leu)
n.545G>T
c.1018G>T (p.Val340Leu)
c.829G>T (p.Val277Leu)
n.544G>T
c.913G>T (p.Val305Leu)
19g.41422691_41422692delinsGTCA2336459227BCKDHAc.916_917delinsGT (p.Val306=)
c.850_851delinsGT (p.Val284=)
n.545_546delinsGT
c.1018_1019delinsGT (p.Val340=)
c.829_830delinsGT (p.Val277=)
n.544_545delinsGT
c.913_914delinsGT (p.Val305=)
19g.41422692delCA221229BCKDHAc.917del (p.Val306AspfsTer24)
c.851del (p.Val284AspfsTer24)
n.546del
c.1019del (p.Val340AspfsTer24)
c.830del (p.Val277AspfsTer24)
n.545del
c.917del (p.Val306AspfsTer28)
c.914del (p.Val305AspfsTer24)
 ClinVar dbSNP
19g.41422692T>ACA406013392BCKDHAc.917T>A (p.Val306Glu)
c.851T>A (p.Val284Glu)
n.546T>A
c.1019T>A (p.Val340Glu)
c.830T>A (p.Val277Glu)
n.545T>A
c.914T>A (p.Val305Glu)
19g.41422692T>CCA406013393BCKDHAc.917T>C (p.Val306Ala)
c.851T>C (p.Val284Ala)
n.546T>C
c.1019T>C (p.Val340Ala)
c.830T>C (p.Val277Ala)
n.545T>C
c.914T>C (p.Val305Ala)
19g.41422692T>GCA406013394BCKDHAc.917T>G (p.Val306Gly)
c.851T>G (p.Val284Gly)
n.546T>G
c.1019T>G (p.Val340Gly)
c.830T>G (p.Val277Gly)
n.545T>G
c.914T>G (p.Val305Gly)
19g.41422693A>CCA507690722BCKDHAc.918A>C (p.Val306=)
c.852A>C (p.Val284=)
n.547A>C
c.1020A>C (p.Val340=)
c.831A>C (p.Val277=)
n.546A>C
c.915A>C (p.Val305=)
 ClinVar
19g.41422693A>GCA507690723BCKDHAc.918A>G (p.Val306=)
c.852A>G (p.Val284=)
n.547A>G
c.1020A>G (p.Val340=)
c.831A>G (p.Val277=)
n.546A>G
c.915A>G (p.Val305=)
19g.41422693A>TCA507690724BCKDHAc.918A>T (p.Val306=)
c.852A>T (p.Val284=)
n.547A>T
c.1020A>T (p.Val340=)
c.831A>T (p.Val277=)
n.546A>T
c.915A>T (p.Val305=)
19g.41422694T>ACA406013396BCKDHAc.919T>A (p.Tyr307Asn)
c.853T>A (p.Tyr285Asn)
n.548T>A
c.1021T>A (p.Tyr341Asn)
c.832T>A (p.Tyr278Asn)
n.547T>A
c.916T>A (p.Tyr306Asn)
19g.41422694T>CCA9461298BCKDHAc.919T>C (p.Tyr307His)
c.853T>C (p.Tyr285His)
n.548T>C
c.1021T>C (p.Tyr341His)
c.832T>C (p.Tyr278His)
n.547T>C
c.916T>C (p.Tyr306His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422694T>GCA406013395BCKDHAc.919T>G (p.Tyr307Asp)
c.853T>G (p.Tyr285Asp)
n.548T>G
c.1021T>G (p.Tyr341Asp)
c.832T>G (p.Tyr278Asp)
n.547T>G
c.916T>G (p.Tyr306Asp)
19g.41422694T=CA2336459229BCKDHAc.919T= (p.Tyr307=)
c.853T= (p.Tyr285=)
n.548T=
c.1021T= (p.Tyr341=)
c.832T= (p.Tyr278=)
n.547T=
c.916T= (p.Tyr306=)
19g.41422695A=CA2336459230BCKDHAc.920A= (p.Tyr307=)
c.854A= (p.Tyr285=)
n.549A=
c.1022A= (p.Tyr341=)
c.833A= (p.Tyr278=)
n.548A=
c.917A= (p.Tyr306=)
19g.41422695A>CCA406013397BCKDHAc.920A>C (p.Tyr307Ser)
c.854A>C (p.Tyr285Ser)
n.549A>C
c.1022A>C (p.Tyr341Ser)
c.833A>C (p.Tyr278Ser)
n.548A>C
c.917A>C (p.Tyr306Ser)
19g.41422695A>GCA9461299BCKDHAc.920A>G (p.Tyr307Cys)
c.854A>G (p.Tyr285Cys)
n.549A>G
c.1022A>G (p.Tyr341Cys)
c.833A>G (p.Tyr278Cys)
n.548A>G
c.917A>G (p.Tyr306Cys)
 dbSNP ExAC gnomAD v2
19g.41422695A>TCA406013398BCKDHAc.920A>T (p.Tyr307Phe)
c.854A>T (p.Tyr285Phe)
n.549A>T
c.1022A>T (p.Tyr341Phe)
c.833A>T (p.Tyr278Phe)
n.548A>T
c.917A>T (p.Tyr306Phe)
19g.41422696C>ACA9461300BCKDHAc.921C>A (p.Tyr307Ter)
c.855C>A (p.Tyr285Ter)
n.550C>A
c.1023C>A (p.Tyr341Ter)
c.834C>A (p.Tyr278Ter)
n.549C>A
c.918C>A (p.Tyr306Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422696C=CA2336459231BCKDHAc.921C= (p.Tyr307=)
c.855C= (p.Tyr285=)
n.550C=
c.1023C= (p.Tyr341=)
c.834C= (p.Tyr278=)
n.549C=
c.918C= (p.Tyr306=)
19g.41422696C>GCA406013399BCKDHAc.921C>G (p.Tyr307Ter)
c.855C>G (p.Tyr285Ter)
n.550C>G
c.1023C>G (p.Tyr341Ter)
c.834C>G (p.Tyr278Ter)
n.549C>G
c.918C>G (p.Tyr306Ter)
 gnomAD v4
19g.41422696C>TCA507690725BCKDHAc.921C>T (p.Tyr307=)
c.855C>T (p.Tyr285=)
n.550C>T
c.1023C>T (p.Tyr341=)
c.834C>T (p.Tyr278=)
n.549C>T
c.918C>T (p.Tyr306=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422697A>CCA406013402BCKDHAc.922A>C (p.Asn308His)
c.856A>C (p.Asn286His)
n.551A>C
c.1024A>C (p.Asn342His)
c.835A>C (p.Asn279His)
n.550A>C
c.922A>C (p.Thr308Pro)
c.919A>C (p.Asn307His)
19g.41422697A>GCA406013400BCKDHAc.922A>G (p.Asn308Asp)
c.856A>G (p.Asn286Asp)
n.551A>G
c.1024A>G (p.Asn342Asp)
c.835A>G (p.Asn279Asp)
n.550A>G
c.922A>G (p.Thr308Ala)
c.919A>G (p.Asn307Asp)
19g.41422697A>TCA406013401BCKDHAc.922A>T (p.Asn308Tyr)
c.856A>T (p.Asn286Tyr)
n.551A>T
c.1024A>T (p.Asn342Tyr)
c.835A>T (p.Asn279Tyr)
n.550A>T
c.922A>T (p.Thr308Ser)
c.919A>T (p.Asn307Tyr)
19g.41422698A=CA2336459232BCKDHAc.923A= (p.Asn308=)
c.857A= (p.Asn286=)
n.552A=
c.1025A= (p.Asn342=)
c.836A= (p.Asn279=)
n.551A=
c.922+1A= (n.922+1A=)
c.920A= (p.Asn307=)
19g.41422698A>CCA406013403BCKDHAc.923A>C (p.Asn308Thr)
c.857A>C (p.Asn286Thr)
n.552A>C
c.1025A>C (p.Asn342Thr)
c.836A>C (p.Asn279Thr)
n.551A>C
c.922+1A>C (n.922+1A>C)
c.920A>C (p.Asn307Thr)
19g.41422698A>GCA9461301BCKDHAc.923A>G (p.Asn308Ser)
c.857A>G (p.Asn286Ser)
n.552A>G
c.1025A>G (p.Asn342Ser)
c.836A>G (p.Asn279Ser)
n.551A>G
c.922+1A>G (n.922+1A>G)
c.920A>G (p.Asn307Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422698A>TCA406013404BCKDHAc.923A>T (p.Asn308Ile)
c.857A>T (p.Asn286Ile)
n.552A>T
c.1025A>T (p.Asn342Ile)
c.836A>T (p.Asn279Ile)
n.551A>T
c.922+1A>T (n.922+1A>T)
c.920A>T (p.Asn307Ile)
19g.41422699C>ACA406013405BCKDHAc.924C>A (p.Asn308Lys)
c.858C>A (p.Asn286Lys)
n.553C>A
c.1026C>A (p.Asn342Lys)
c.837C>A (p.Asn279Lys)
n.552C>A
c.922+2C>A (n.922+2C>A)
c.921C>A (p.Asn307Lys)
19g.41422699C=CA2336459233BCKDHAc.924C= (p.Asn308=)
c.858C= (p.Asn286=)
n.553C=
c.1026C= (p.Asn342=)
c.837C= (p.Asn279=)
n.552C=
c.922+2C= (n.922+2C=)
c.921C= (p.Asn307=)
19g.41422699C>GCA406013406BCKDHAc.924C>G (p.Asn308Lys)
c.858C>G (p.Asn286Lys)
n.553C>G
c.1026C>G (p.Asn342Lys)
c.837C>G (p.Asn279Lys)
n.552C>G
c.922+2C>G (n.922+2C>G)
c.921C>G (p.Asn307Lys)
19g.41422699C>TCA9461302BCKDHAc.924C>T (p.Asn308=)
c.858C>T (p.Asn286=)
n.553C>T
c.1026C>T (p.Asn342=)
c.837C>T (p.Asn279=)
n.552C>T
c.922+2C>T (n.922+2C>T)
c.921C>T (p.Asn307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched