Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422319G>ACA406012982BCKDHAc.802G>A (p.Gly268Ser)
c.736G>A (p.Gly246Ser)
n.431G>A
c.904G>A (p.Gly302Ser)
c.715G>A (p.Gly239Ser)
n.430G>A
19g.41422319G>CCA406012983BCKDHAc.802G>C (p.Gly268Arg)
c.736G>C (p.Gly246Arg)
n.431G>C
c.904G>C (p.Gly302Arg)
c.715G>C (p.Gly239Arg)
n.430G>C
19g.41422319G>TCA406012984BCKDHAc.802G>T (p.Gly268Cys)
c.736G>T (p.Gly246Cys)
n.431G>T
c.904G>T (p.Gly302Cys)
c.715G>T (p.Gly239Cys)
n.430G>T
19g.41422320G>ACA406012985BCKDHAc.803G>A (p.Gly268Asp)
c.737G>A (p.Gly246Asp)
n.432G>A
c.905G>A (p.Gly302Asp)
c.716G>A (p.Gly239Asp)
n.431G>A
19g.41422320G>CCA406012986BCKDHAc.803G>C (p.Gly268Ala)
c.737G>C (p.Gly246Ala)
n.432G>C
c.905G>C (p.Gly302Ala)
c.716G>C (p.Gly239Ala)
n.431G>C
19g.41422320G>TCA406012987BCKDHAc.803G>T (p.Gly268Val)
c.737G>T (p.Gly246Val)
n.432G>T
c.905G>T (p.Gly302Val)
c.716G>T (p.Gly239Val)
n.431G>T
19g.41422321C>ACA507690629BCKDHAc.804C>A (p.Gly268=)
c.738C>A (p.Gly246=)
n.433C>A
c.906C>A (p.Gly302=)
c.717C>A (p.Gly239=)
n.432C>A
19g.41422321C>GCA507690630BCKDHAc.804C>G (p.Gly268=)
c.738C>G (p.Gly246=)
n.433C>G
c.906C>G (p.Gly302=)
c.717C>G (p.Gly239=)
n.432C>G
19g.41422321C>TCA507690631BCKDHAc.804C>T (p.Gly268=)
c.738C>T (p.Gly246=)
n.433C>T
c.906C>T (p.Gly302=)
c.717C>T (p.Gly239=)
n.432C>T
19g.41422322T>ACA406012988BCKDHAc.805T>A (p.Tyr269Asn)
c.739T>A (p.Tyr247Asn)
n.434T>A
c.907T>A (p.Tyr303Asn)
c.718T>A (p.Tyr240Asn)
n.433T>A
19g.41422322T>CCA406012989BCKDHAc.805T>C (p.Tyr269His)
c.739T>C (p.Tyr247His)
n.434T>C
c.907T>C (p.Tyr303His)
c.718T>C (p.Tyr240His)
n.433T>C
19g.41422322T>GCA406012990BCKDHAc.805T>G (p.Tyr269Asp)
c.739T>G (p.Tyr247Asp)
n.434T>G
c.907T>G (p.Tyr303Asp)
c.718T>G (p.Tyr240Asp)
n.433T>G
19g.41422323A>CCA406012991BCKDHAc.806A>C (p.Tyr269Ser)
c.740A>C (p.Tyr247Ser)
n.435A>C
c.908A>C (p.Tyr303Ser)
c.719A>C (p.Tyr240Ser)
n.434A>C
19g.41422323A>GCA406012992BCKDHAc.806A>G (p.Tyr269Cys)
c.740A>G (p.Tyr247Cys)
n.435A>G
c.908A>G (p.Tyr303Cys)
c.719A>G (p.Tyr240Cys)
n.434A>G
19g.41422323A>TCA406012993BCKDHAc.806A>T (p.Tyr269Phe)
c.740A>T (p.Tyr247Phe)
n.435A>T
c.908A>T (p.Tyr303Phe)
c.719A>T (p.Tyr240Phe)
n.434A>T
19g.41422324C>ACA9461261BCKDHAc.807C>A (p.Tyr269Ter)
c.741C>A (p.Tyr247Ter)
n.436C>A
c.909C>A (p.Tyr303Ter)
c.720C>A (p.Tyr240Ter)
n.435C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422324C=CA2336459062BCKDHAc.807C= (p.Tyr269=)
c.741C= (p.Tyr247=)
n.436C=
c.909C= (p.Tyr303=)
c.720C= (p.Tyr240=)
n.435C=
19g.41422324C>GCA406012994BCKDHAc.807C>G (p.Tyr269Ter)
c.741C>G (p.Tyr247Ter)
n.436C>G
c.909C>G (p.Tyr303Ter)
c.720C>G (p.Tyr240Ter)
n.435C>G
19g.41422324C>TCA9461262BCKDHAc.807C>T (p.Tyr269=)
c.741C>T (p.Tyr247=)
n.436C>T
c.909C>T (p.Tyr303=)
c.720C>T (p.Tyr240=)
n.435C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422325G>ACA9461263BCKDHAc.808G>A (p.Ala270Thr)
c.742G>A (p.Ala248Thr)
n.437G>A
c.910G>A (p.Ala304Thr)
c.721G>A (p.Ala241Thr)
n.436G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422325G>CCA406012996BCKDHAc.808G>C (p.Ala270Pro)
c.742G>C (p.Ala248Pro)
n.437G>C
c.910G>C (p.Ala304Pro)
c.721G>C (p.Ala241Pro)
n.436G>C
19g.41422325G=CA2336459063BCKDHAc.808G= (p.Ala270=)
c.742G= (p.Ala248=)
n.437G=
c.910G= (p.Ala304=)
c.721G= (p.Ala241=)
n.436G=
19g.41422325G>TCA406012998BCKDHAc.808G>T (p.Ala270Ser)
c.742G>T (p.Ala248Ser)
n.437G>T
c.910G>T (p.Ala304Ser)
c.721G>T (p.Ala241Ser)
n.436G>T
19g.41422326C>ACA406012999BCKDHAc.809C>A (p.Ala270Asp)
c.743C>A (p.Ala248Asp)
n.438C>A
c.911C>A (p.Ala304Asp)
c.722C>A (p.Ala241Asp)
n.437C>A
19g.41422326C>GCA406013000BCKDHAc.809C>G (p.Ala270Gly)
c.743C>G (p.Ala248Gly)
n.438C>G
c.911C>G (p.Ala304Gly)
c.722C>G (p.Ala241Gly)
n.437C>G
19g.41422326C>TCA406013001BCKDHAc.809C>T (p.Ala270Val)
c.743C>T (p.Ala248Val)
n.438C>T
c.911C>T (p.Ala304Val)
c.722C>T (p.Ala241Val)
n.437C>T
19g.41422327C>ACA507690635BCKDHAc.810C>A (p.Ala270=)
c.744C>A (p.Ala248=)
n.439C>A
c.912C>A (p.Ala304=)
c.723C>A (p.Ala241=)
n.438C>A
19g.41422327C=CA2336459064BCKDHAc.810C= (p.Ala270=)
c.744C= (p.Ala248=)
n.439C=
c.912C= (p.Ala304=)
c.723C= (p.Ala241=)
n.438C=
19g.41422327C>GCA507690636BCKDHAc.810C>G (p.Ala270=)
c.744C>G (p.Ala248=)
n.439C>G
c.912C>G (p.Ala304=)
c.723C>G (p.Ala241=)
n.438C>G
19g.41422327C>TCA507690637BCKDHAc.810C>T (p.Ala270=)
c.744C>T (p.Ala248=)
n.439C>T
c.912C>T (p.Ala304=)
c.723C>T (p.Ala241=)
n.438C>T
 ClinVar dbSNP
19g.41422328A>CCA406013002BCKDHAc.811A>C (p.Ile271Leu)
c.745A>C (p.Ile249Leu)
n.440A>C
c.913A>C (p.Ile305Leu)
c.724A>C (p.Ile242Leu)
n.439A>C
19g.41422328A>GCA406013003BCKDHAc.811A>G (p.Ile271Val)
c.745A>G (p.Ile249Val)
n.440A>G
c.913A>G (p.Ile305Val)
c.724A>G (p.Ile242Val)
n.439A>G
19g.41422328A>TCA406013004BCKDHAc.811A>T (p.Ile271Phe)
c.745A>T (p.Ile249Phe)
n.440A>T
c.913A>T (p.Ile305Phe)
c.724A>T (p.Ile242Phe)
n.439A>T
19g.41422329T>ACA406013006BCKDHAc.812T>A (p.Ile271Asn)
c.746T>A (p.Ile249Asn)
n.441T>A
c.914T>A (p.Ile305Asn)
c.725T>A (p.Ile242Asn)
n.440T>A
19g.41422329T>CCA406013007BCKDHAc.812T>C (p.Ile271Thr)
c.746T>C (p.Ile249Thr)
n.441T>C
c.914T>C (p.Ile305Thr)
c.725T>C (p.Ile242Thr)
n.440T>C
19g.41422329T>GCA406013005BCKDHAc.812T>G (p.Ile271Ser)
c.746T>G (p.Ile249Ser)
n.441T>G
c.914T>G (p.Ile305Ser)
c.725T>G (p.Ile242Ser)
n.440T>G
19g.41422330C>ACA507690638BCKDHAc.813C>A (p.Ile271=)
c.747C>A (p.Ile249=)
n.442C>A
c.915C>A (p.Ile305=)
c.726C>A (p.Ile242=)
n.441C>A
 gnomAD v4
19g.41422330C>GCA406013008BCKDHAc.813C>G (p.Ile271Met)
c.747C>G (p.Ile249Met)
n.442C>G
c.915C>G (p.Ile305Met)
c.726C>G (p.Ile242Met)
n.441C>G
19g.41422330C>TCA507690639BCKDHAc.813C>T (p.Ile271=)
c.747C>T (p.Ile249=)
n.442C>T
c.915C>T (p.Ile305=)
c.726C>T (p.Ile242=)
n.441C>T
19g.41422331T>ACA406013009BCKDHAc.814T>A (p.Ser272Thr)
c.748T>A (p.Ser250Thr)
n.443T>A
c.916T>A (p.Ser306Thr)
c.727T>A (p.Ser243Thr)
n.442T>A
19g.41422331T>CCA406013010BCKDHAc.814T>C (p.Ser272Pro)
c.748T>C (p.Ser250Pro)
n.443T>C
c.916T>C (p.Ser306Pro)
c.727T>C (p.Ser243Pro)
n.442T>C
19g.41422331T>GCA406013011BCKDHAc.814T>G (p.Ser272Ala)
c.748T>G (p.Ser250Ala)
n.443T>G
c.916T>G (p.Ser306Ala)
c.727T>G (p.Ser243Ala)
n.442T>G
19g.41422332C>ACA406013012BCKDHAc.815C>A (p.Ser272Tyr)
c.749C>A (p.Ser250Tyr)
n.444C>A
c.917C>A (p.Ser306Tyr)
c.728C>A (p.Ser243Tyr)
n.443C>A
19g.41422332C>GCA406013013BCKDHAc.815C>G (p.Ser272Cys)
c.749C>G (p.Ser250Cys)
n.444C>G
c.917C>G (p.Ser306Cys)
c.728C>G (p.Ser243Cys)
n.443C>G
19g.41422332C>TCA406013014BCKDHAc.815C>T (p.Ser272Phe)
c.749C>T (p.Ser250Phe)
n.444C>T
c.917C>T (p.Ser306Phe)
c.728C>T (p.Ser243Phe)
n.443C>T
 COSMIC
19g.41422333C>ACA507690644BCKDHAc.816C>A (p.Ser272=)
c.750C>A (p.Ser250=)
n.445C>A
c.918C>A (p.Ser306=)
c.729C>A (p.Ser243=)
n.444C>A
19g.41422333C>GCA507690642BCKDHAc.816C>G (p.Ser272=)
c.750C>G (p.Ser250=)
n.445C>G
c.918C>G (p.Ser306=)
c.729C>G (p.Ser243=)
n.444C>G
 ClinVar
19g.41422333C>TCA507690643BCKDHAc.816C>T (p.Ser272=)
c.750C>T (p.Ser250=)
n.445C>T
c.918C>T (p.Ser306=)
c.729C>T (p.Ser243=)
n.444C>T
 gnomAD v4
19g.41422334A=CA2336459065BCKDHAc.817A= (p.Thr273=)
c.751A= (p.Thr251=)
n.446A=
c.919A= (p.Thr307=)
c.730A= (p.Thr244=)
n.445A=
19g.41422334A>CCA406013015BCKDHAc.817A>C (p.Thr273Pro)
c.751A>C (p.Thr251Pro)
n.446A>C
c.919A>C (p.Thr307Pro)
c.730A>C (p.Thr244Pro)
n.445A>C
 gnomAD v4
19g.41422334A>GCA221217BCKDHAc.817A>G (p.Thr273Ala)
c.751A>G (p.Thr251Ala)
n.446A>G
c.919A>G (p.Thr307Ala)
c.730A>G (p.Thr244Ala)
n.445A>G
 ClinVar dbSNP
19g.41422334A>TCA406013016BCKDHAc.817A>T (p.Thr273Ser)
c.751A>T (p.Thr251Ser)
n.446A>T
c.919A>T (p.Thr307Ser)
c.730A>T (p.Thr244Ser)
n.445A>T
 gnomAD v4
19g.41422335C>ACA406013017BCKDHAc.818C>A (p.Thr273Lys)
c.752C>A (p.Thr251Lys)
n.447C>A
c.920C>A (p.Thr307Lys)
c.731C>A (p.Thr244Lys)
n.446C>A
19g.41422335C=CA2336459066BCKDHAc.818C= (p.Thr273=)
c.752C= (p.Thr251=)
n.447C=
c.920C= (p.Thr307=)
c.731C= (p.Thr244=)
n.446C=
19g.41422335C>GCA406013018BCKDHAc.818C>G (p.Thr273Arg)
c.752C>G (p.Thr251Arg)
n.447C>G
c.920C>G (p.Thr307Arg)
c.731C>G (p.Thr244Arg)
n.446C>G
19g.41422335C>TCA406013019BCKDHAc.818C>T (p.Thr273Met)
c.752C>T (p.Thr251Met)
n.447C>T
c.920C>T (p.Thr307Met)
c.731C>T (p.Thr244Met)
n.446C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422336G>ACA9461265BCKDHAc.819G>A (p.Thr273=)
c.753G>A (p.Thr251=)
n.448G>A
c.921G>A (p.Thr307=)
c.732G>A (p.Thr244=)
n.447G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41422336G>CCA507690645BCKDHAc.819G>C (p.Thr273=)
c.753G>C (p.Thr251=)
n.448G>C
c.921G>C (p.Thr307=)
c.732G>C (p.Thr244=)
n.447G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422336G=CA2336459067BCKDHAc.819G= (p.Thr273=)
c.753G= (p.Thr251=)
n.448G=
c.921G= (p.Thr307=)
c.732G= (p.Thr244=)
n.447G=
19g.41422336G>TCA9461264BCKDHAc.819G>T (p.Thr273=)
c.753G>T (p.Thr251=)
n.448G>T
c.921G>T (p.Thr307=)
c.732G>T (p.Thr244=)
n.447G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422337C>ACA406013020BCKDHAc.820C>A (p.Pro274Thr)
c.754C>A (p.Pro252Thr)
n.449C>A
c.922C>A (p.Pro308Thr)
c.733C>A (p.Pro245Thr)
n.448C>A
19g.41422337C>GCA406013021BCKDHAc.820C>G (p.Pro274Ala)
c.754C>G (p.Pro252Ala)
n.449C>G
c.922C>G (p.Pro308Ala)
c.733C>G (p.Pro245Ala)
n.448C>G
19g.41422337C>TCA406013022BCKDHAc.820C>T (p.Pro274Ser)
c.754C>T (p.Pro252Ser)
n.449C>T
c.922C>T (p.Pro308Ser)
c.733C>T (p.Pro245Ser)
n.448C>T
19g.41422338C>ACA406013023BCKDHAc.821C>A (p.Pro274His)
c.755C>A (p.Pro252His)
n.450C>A
c.923C>A (p.Pro308His)
c.734C>A (p.Pro245His)
n.449C>A
19g.41422338C>GCA406013024BCKDHAc.821C>G (p.Pro274Arg)
c.755C>G (p.Pro252Arg)
n.450C>G
c.923C>G (p.Pro308Arg)
c.734C>G (p.Pro245Arg)
n.449C>G
19g.41422338C>TCA406013025BCKDHAc.821C>T (p.Pro274Leu)
c.755C>T (p.Pro252Leu)
n.450C>T
c.923C>T (p.Pro308Leu)
c.734C>T (p.Pro245Leu)
n.449C>T
 gnomAD v4
19g.41422339C>ACA507690647BCKDHAc.822C>A (p.Pro274=)
c.756C>A (p.Pro252=)
n.451C>A
c.924C>A (p.Pro308=)
c.735C>A (p.Pro245=)
n.450C>A
19g.41422339C>GCA507690648BCKDHAc.822C>G (p.Pro274=)
c.756C>G (p.Pro252=)
n.451C>G
c.924C>G (p.Pro308=)
c.735C>G (p.Pro245=)
n.450C>G
19g.41422339C>TCA507690649BCKDHAc.822C>T (p.Pro274=)
c.756C>T (p.Pro252=)
n.451C>T
c.924C>T (p.Pro308=)
c.735C>T (p.Pro245=)
n.450C>T
 ClinVar dbSNP
19g.41422340A>CCA406013027BCKDHAc.823A>C (p.Thr275Pro)
c.757A>C (p.Thr253Pro)
n.452A>C
c.925A>C (p.Thr309Pro)
c.736A>C (p.Thr246Pro)
n.451A>C
19g.41422340A>GCA406013028BCKDHAc.823A>G (p.Thr275Ala)
c.757A>G (p.Thr253Ala)
n.452A>G
c.925A>G (p.Thr309Ala)
c.736A>G (p.Thr246Ala)
n.451A>G
19g.41422340A>TCA406013029BCKDHAc.823A>T (p.Thr275Ser)
c.757A>T (p.Thr253Ser)
n.452A>T
c.925A>T (p.Thr309Ser)
c.736A>T (p.Thr246Ser)
n.451A>T
19g.41422341C>ACA406013030BCKDHAc.824C>A (p.Thr275Asn)
c.758C>A (p.Thr253Asn)
n.453C>A
c.926C>A (p.Thr309Asn)
c.737C>A (p.Thr246Asn)
n.452C>A
19g.41422341C>GCA406013031BCKDHAc.824C>G (p.Thr275Ser)
c.758C>G (p.Thr253Ser)
n.453C>G
c.926C>G (p.Thr309Ser)
c.737C>G (p.Thr246Ser)
n.452C>G
19g.41422341C>TCA406013032BCKDHAc.824C>T (p.Thr275Ile)
c.758C>T (p.Thr253Ile)
n.453C>T
c.926C>T (p.Thr309Ile)
c.737C>T (p.Thr246Ile)
n.452C>T
 gnomAD v4
19g.41422342C>ACA507690651BCKDHAc.825C>A (p.Thr275=)
c.759C>A (p.Thr253=)
n.454C>A
c.927C>A (p.Thr309=)
c.738C>A (p.Thr246=)
n.453C>A
19g.41422342C=CA2336459068BCKDHAc.825C= (p.Thr275=)
c.759C= (p.Thr253=)
n.454C=
c.927C= (p.Thr309=)
c.738C= (p.Thr246=)
n.453C=
19g.41422342C>GCA507690652BCKDHAc.825C>G (p.Thr275=)
c.759C>G (p.Thr253=)
n.454C>G
c.927C>G (p.Thr309=)
c.738C>G (p.Thr246=)
n.453C>G
19g.41422342C>TCA507690653BCKDHAc.825C>T (p.Thr275=)
c.759C>T (p.Thr253=)
n.454C>T
c.927C>T (p.Thr309=)
c.738C>T (p.Thr246=)
n.453C>T
 ClinVar dbSNP
19g.41422343T>ACA406013034BCKDHAc.826T>A (p.Ser276Thr)
c.760T>A (p.Ser254Thr)
n.455T>A
c.928T>A (p.Ser310Thr)
c.739T>A (p.Ser247Thr)
n.454T>A
19g.41422343T>CCA406013035BCKDHAc.826T>C (p.Ser276Pro)
c.760T>C (p.Ser254Pro)
n.455T>C
c.928T>C (p.Ser310Pro)
c.739T>C (p.Ser247Pro)
n.454T>C
19g.41422343T>GCA406013033BCKDHAc.826T>G (p.Ser276Ala)
c.760T>G (p.Ser254Ala)
n.455T>G
c.928T>G (p.Ser310Ala)
c.739T>G (p.Ser247Ala)
n.454T>G
19g.41422344C>ACA406013038BCKDHAc.827C>A (p.Ser276Tyr)
c.761C>A (p.Ser254Tyr)
n.456C>A
c.929C>A (p.Ser310Tyr)
c.740C>A (p.Ser247Tyr)
n.455C>A
19g.41422344C>GCA406013036BCKDHAc.827C>G (p.Ser276Cys)
c.761C>G (p.Ser254Cys)
n.456C>G
c.929C>G (p.Ser310Cys)
c.740C>G (p.Ser247Cys)
n.455C>G
19g.41422344C>TCA406013037BCKDHAc.827C>T (p.Ser276Phe)
c.761C>T (p.Ser254Phe)
n.456C>T
c.929C>T (p.Ser310Phe)
c.740C>T (p.Ser247Phe)
n.455C>T
19g.41422345T>ACA507690654BCKDHAc.828T>A (p.Ser276=)
c.762T>A (p.Ser254=)
n.457T>A
c.930T>A (p.Ser310=)
c.741T>A (p.Ser247=)
n.456T>A
19g.41422345T>CCA507690655BCKDHAc.828T>C (p.Ser276=)
c.762T>C (p.Ser254=)
n.457T>C
c.930T>C (p.Ser310=)
c.741T>C (p.Ser247=)
n.456T>C
 dbSNP
19g.41422345T>GCA507690656BCKDHAc.828T>G (p.Ser276=)
c.762T>G (p.Ser254=)
n.457T>G
c.930T>G (p.Ser310=)
c.741T>G (p.Ser247=)
n.456T>G
 ClinVar dbSNP gnomAD v4
19g.41422345T=CA2336459069BCKDHAc.828T= (p.Ser276=)
c.762T= (p.Ser254=)
n.457T=
c.930T= (p.Ser310=)
c.741T= (p.Ser247=)
n.456T=
19g.41422346G>ACA406013039BCKDHAc.829G>A (p.Glu277Lys)
c.763G>A (p.Glu255Lys)
n.458G>A
c.931G>A (p.Glu311Lys)
c.742G>A (p.Glu248Lys)
n.457G>A
19g.41422346G>CCA406013040BCKDHAc.829G>C (p.Glu277Gln)
c.763G>C (p.Glu255Gln)
n.458G>C
c.931G>C (p.Glu311Gln)
c.742G>C (p.Glu248Gln)
n.457G>C
19g.41422346G>TCA406013041BCKDHAc.829G>T (p.Glu277Ter)
c.763G>T (p.Glu255Ter)
n.458G>T
c.931G>T (p.Glu311Ter)
c.742G>T (p.Glu248Ter)
n.457G>T
19g.41422347A=CA2336459070BCKDHAc.830A= (p.Glu277=)
c.764A= (p.Glu255=)
n.459A=
c.932A= (p.Glu311=)
c.743A= (p.Glu248=)
n.458A=
19g.41422347A>CCA406013042BCKDHAc.830A>C (p.Glu277Ala)
c.764A>C (p.Glu255Ala)
n.459A>C
c.932A>C (p.Glu311Ala)
c.743A>C (p.Glu248Ala)
n.458A>C
19g.41422347A>GCA406013043BCKDHAc.830A>G (p.Glu277Gly)
c.764A>G (p.Glu255Gly)
n.459A>G
c.932A>G (p.Glu311Gly)
c.743A>G (p.Glu248Gly)
n.458A>G
 dbSNP gnomAD v2 gnomAD v4
19g.41422347A>TCA406013045BCKDHAc.830A>T (p.Glu277Val)
c.764A>T (p.Glu255Val)
n.459A>T
c.932A>T (p.Glu311Val)
c.743A>T (p.Glu248Val)
n.458A>T
19g.41422348G>ACA507690657BCKDHAc.831G>A (p.Glu277=)
c.765G>A (p.Glu255=)
n.460G>A
c.933G>A (p.Glu311=)
c.744G>A (p.Glu248=)
n.459G>A
 gnomAD v4
19g.41422348G>CCA406013047BCKDHAc.831G>C (p.Glu277Asp)
c.765G>C (p.Glu255Asp)
n.460G>C
c.933G>C (p.Glu311Asp)
c.744G>C (p.Glu248Asp)
n.459G>C
19g.41422348G>TCA406013048BCKDHAc.831G>T (p.Glu277Asp)
c.765G>T (p.Glu255Asp)
n.460G>T
c.933G>T (p.Glu311Asp)
c.744G>T (p.Glu248Asp)
n.459G>T
19g.41422349C>ACA406013049BCKDHAc.832C>A (p.Gln278Lys)
c.766C>A (p.Gln256Lys)
n.461C>A
c.934C>A (p.Gln312Lys)
c.745C>A (p.Gln249Lys)
n.460C>A
19g.41422349C>GCA406013050BCKDHAc.832C>G (p.Gln278Glu)
c.766C>G (p.Gln256Glu)
n.461C>G
c.934C>G (p.Gln312Glu)
c.745C>G (p.Gln249Glu)
n.460C>G
19g.41422349C>TCA406013051BCKDHAc.832C>T (p.Gln278Ter)
c.766C>T (p.Gln256Ter)
n.461C>T
c.934C>T (p.Gln312Ter)
c.745C>T (p.Gln249Ter)
n.460C>T
 gnomAD v4
19g.41422350A>CCA406013054BCKDHAc.833A>C (p.Gln278Pro)
c.767A>C (p.Gln256Pro)
n.462A>C
c.935A>C (p.Gln312Pro)
c.746A>C (p.Gln249Pro)
n.461A>C
19g.41422350A>GCA406013052BCKDHAc.833A>G (p.Gln278Arg)
c.767A>G (p.Gln256Arg)
n.462A>G
c.935A>G (p.Gln312Arg)
c.746A>G (p.Gln249Arg)
n.461A>G
 gnomAD v4
19g.41422350A>TCA406013053BCKDHAc.833A>T (p.Gln278Leu)
c.767A>T (p.Gln256Leu)
n.462A>T
c.935A>T (p.Gln312Leu)
c.746A>T (p.Gln249Leu)
n.461A>T
19g.41422351G>ACA507690659BCKDHAc.834G>A (p.Gln278=)
c.768G>A (p.Gln256=)
n.463G>A
c.936G>A (p.Gln312=)
c.747G>A (p.Gln249=)
n.462G>A
 dbSNP
19g.41422351G>CCA406013055BCKDHAc.834G>C (p.Gln278His)
c.768G>C (p.Gln256His)
n.463G>C
c.936G>C (p.Gln312His)
c.747G>C (p.Gln249His)
n.462G>C
19g.41422351G=CA2336459072BCKDHAc.834G= (p.Gln278=)
c.768G= (p.Gln256=)
n.463G=
c.936G= (p.Gln312=)
c.747G= (p.Gln249=)
n.462G=
19g.41422351G>TCA406013056BCKDHAc.834G>T (p.Gln278His)
c.768G>T (p.Gln256His)
n.463G>T
c.936G>T (p.Gln312His)
c.747G>T (p.Gln249His)
n.462G>T
19g.41422351_41422352delinsGTCA2336459071BCKDHAc.834_835delinsGT (p.Gln278=)
c.768_769delinsGT (p.Gln256=)
n.463_464delinsGT
c.936_937delinsGT (p.Gln312=)
c.747_748delinsGT (p.Gln249=)
n.462_463delinsGT
19g.41422352delCA9461266BCKDHAc.835del (p.Tyr279IlefsTer?)
c.769del (p.Tyr257IlefsTer?)
n.464del
c.937del (p.Tyr313IlefsTer?)
c.748del (p.Tyr250IlefsTer?)
n.463del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422352T>ACA406013057BCKDHAc.835T>A (p.Tyr279Asn)
c.769T>A (p.Tyr257Asn)
n.464T>A
c.937T>A (p.Tyr313Asn)
c.748T>A (p.Tyr250Asn)
n.463T>A
19g.41422352T>CCA406013058BCKDHAc.835T>C (p.Tyr279His)
c.769T>C (p.Tyr257His)
n.464T>C
c.937T>C (p.Tyr313His)
c.748T>C (p.Tyr250His)
n.463T>C
19g.41422352T>GCA406013059BCKDHAc.835T>G (p.Tyr279Asp)
c.769T>G (p.Tyr257Asp)
n.464T>G
c.937T>G (p.Tyr313Asp)
c.748T>G (p.Tyr250Asp)
n.463T>G
19g.41422353delCA406013062BCKDHAc.836del (p.Tyr279PhefsTer?)
c.770del (p.Tyr257PhefsTer?)
n.465del
c.938del (p.Tyr313PhefsTer?)
c.749del (p.Tyr250PhefsTer?)
n.464del
19g.41422353A=CA2336459073BCKDHAc.836A= (p.Tyr279=)
c.770A= (p.Tyr257=)
n.465A=
c.938A= (p.Tyr313=)
c.749A= (p.Tyr250=)
n.464A=
19g.41422353A>CCA406013060BCKDHAc.836A>C (p.Tyr279Ser)
c.770A>C (p.Tyr257Ser)
n.465A>C
c.938A>C (p.Tyr313Ser)
c.749A>C (p.Tyr250Ser)
n.464A>C
19g.41422353A>GCA9461267BCKDHAc.836A>G (p.Tyr279Cys)
c.770A>G (p.Tyr257Cys)
n.465A>G
c.938A>G (p.Tyr313Cys)
c.749A>G (p.Tyr250Cys)
n.464A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422353A>TCA406013061BCKDHAc.836A>T (p.Tyr279Phe)
c.770A>T (p.Tyr257Phe)
n.465A>T
c.938A>T (p.Tyr313Phe)
c.749A>T (p.Tyr250Phe)
n.464A>T
19g.41422354T>ACA406013063BCKDHAc.837T>A (p.Tyr279Ter)
c.771T>A (p.Tyr257Ter)
n.466T>A
c.939T>A (p.Tyr313Ter)
c.750T>A (p.Tyr250Ter)
n.465T>A
19g.41422354T>CCA507690662BCKDHAc.837T>C (p.Tyr279=)
c.771T>C (p.Tyr257=)
n.466T>C
c.939T>C (p.Tyr313=)
c.750T>C (p.Tyr250=)
n.465T>C
19g.41422354T>GCA406013064BCKDHAc.837T>G (p.Tyr279Ter)
c.771T>G (p.Tyr257Ter)
n.466T>G
c.939T>G (p.Tyr313Ter)
c.750T>G (p.Tyr250Ter)
n.465T>G
19g.41422355C>ACA308524454BCKDHAc.838C>A (p.Arg280Ser)
c.772C>A (p.Arg258Ser)
n.467C>A
c.940C>A (p.Arg314Ser)
c.751C>A (p.Arg251Ser)
n.466C>A
 dbSNP
19g.41422355C=CA2336459074BCKDHAc.838C= (p.Arg280=)
c.772C= (p.Arg258=)
n.467C=
c.940C= (p.Arg314=)
c.751C= (p.Arg251=)
n.466C=
19g.41422355C>GCA406013065BCKDHAc.838C>G (p.Arg280Gly)
c.772C>G (p.Arg258Gly)
n.467C>G
c.940C>G (p.Arg314Gly)
c.751C>G (p.Arg251Gly)
n.466C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422355C>TCA9461268BCKDHAc.838C>T (p.Arg280Cys)
c.772C>T (p.Arg258Cys)
n.467C>T
c.940C>T (p.Arg314Cys)
c.751C>T (p.Arg251Cys)
n.466C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422356G>ACA308524460BCKDHAc.839G>A (p.Arg280His)
c.773G>A (p.Arg258His)
n.468G>A
c.941G>A (p.Arg314His)
c.752G>A (p.Arg251His)
n.467G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422356G>CCA406013066BCKDHAc.839G>C (p.Arg280Pro)
c.773G>C (p.Arg258Pro)
n.468G>C
c.941G>C (p.Arg314Pro)
c.752G>C (p.Arg251Pro)
n.467G>C
19g.41422356G=CA2336459075BCKDHAc.839G= (p.Arg280=)
c.773G= (p.Arg258=)
n.468G=
c.941G= (p.Arg314=)
c.752G= (p.Arg251=)
n.467G=
19g.41422356G>TCA406013067BCKDHAc.839G>T (p.Arg280Leu)
c.773G>T (p.Arg258Leu)
n.468G>T
c.941G>T (p.Arg314Leu)
c.752G>T (p.Arg251Leu)
n.467G>T
 gnomAD v4
19g.41422357C>ACA507690664BCKDHAc.840C>A (p.Arg280=)
c.774C>A (p.Arg258=)
n.469C>A
c.942C>A (p.Arg314=)
c.753C>A (p.Arg251=)
n.468C>A
19g.41422357C=CA2336459076BCKDHAc.840C= (p.Arg280=)
c.774C= (p.Arg258=)
n.469C=
c.942C= (p.Arg314=)
c.753C= (p.Arg251=)
n.468C=
19g.41422357C>GCA507690665BCKDHAc.840C>G (p.Arg280=)
c.774C>G (p.Arg258=)
n.469C>G
c.942C>G (p.Arg314=)
c.753C>G (p.Arg251=)
n.468C>G
19g.41422357C>TCA9461269BCKDHAc.840C>T (p.Arg280=)
c.774C>T (p.Arg258=)
n.469C>T
c.942C>T (p.Arg314=)
c.753C>T (p.Arg251=)
n.468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422358G>ACA9461270BCKDHAc.841G>A (p.Gly281Ser)
c.775G>A (p.Gly259Ser)
n.470G>A
c.943G>A (p.Gly315Ser)
c.754G>A (p.Gly252Ser)
n.469G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422358G>CCA406013068BCKDHAc.841G>C (p.Gly281Arg)
c.775G>C (p.Gly259Arg)
n.470G>C
c.943G>C (p.Gly315Arg)
c.754G>C (p.Gly252Arg)
n.469G>C
19g.41422358G=CA2336459077BCKDHAc.841G= (p.Gly281=)
c.775G= (p.Gly259=)
n.470G=
c.943G= (p.Gly315=)
c.754G= (p.Gly252=)
n.469G=
19g.41422358G>TCA406013069BCKDHAc.841G>T (p.Gly281Cys)
c.775G>T (p.Gly259Cys)
n.470G>T
c.943G>T (p.Gly315Cys)
c.754G>T (p.Gly252Cys)
n.469G>T
19g.41422359G>ACA406013070BCKDHAc.842G>A (p.Gly281Asp)
c.776G>A (p.Gly259Asp)
n.471G>A
c.944G>A (p.Gly315Asp)
c.755G>A (p.Gly252Asp)
n.470G>A
19g.41422359G>CCA406013071BCKDHAc.842G>C (p.Gly281Ala)
c.776G>C (p.Gly259Ala)
n.471G>C
c.944G>C (p.Gly315Ala)
c.755G>C (p.Gly252Ala)
n.470G>C
19g.41422359G=CA2336459078BCKDHAc.842G= (p.Gly281=)
c.776G= (p.Gly259=)
n.471G=
c.944G= (p.Gly315=)
c.755G= (p.Gly252=)
n.470G=
19g.41422359G>TCA10648755BCKDHAc.842G>T (p.Gly281Val)
c.776G>T (p.Gly259Val)
n.471G>T
c.944G>T (p.Gly315Val)
c.755G>T (p.Gly252Val)
n.470G>T
 ClinVar dbSNP gnomAD v4
19g.41422360C>ACA507690666BCKDHAc.843C>A (p.Gly281=)
c.777C>A (p.Gly259=)
n.472C>A
c.945C>A (p.Gly315=)
c.756C>A (p.Gly252=)
n.471C>A
19g.41422360C=CA2336459079BCKDHAc.843C= (p.Gly281=)
c.777C= (p.Gly259=)
n.472C=
c.945C= (p.Gly315=)
c.756C= (p.Gly252=)
n.471C=
19g.41422360C>GCA507690667BCKDHAc.843C>G (p.Gly281=)
c.777C>G (p.Gly259=)
n.472C>G
c.945C>G (p.Gly315=)
c.756C>G (p.Gly252=)
n.471C>G
 gnomAD v4
19g.41422360C>TCA9461271BCKDHAc.843C>T (p.Gly281=)
c.777C>T (p.Gly259=)
n.472C>T
c.945C>T (p.Gly315=)
c.756C>T (p.Gly252=)
n.471C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422361G>ACA406013072BCKDHAc.844G>A (p.Asp282Asn)
c.778G>A (p.Asp260Asn)
n.473G>A
c.946G>A (p.Asp316Asn)
c.757G>A (p.Asp253Asn)
n.472G>A
 dbSNP gnomAD v4 COSMIC
19g.41422361G>CCA354918BCKDHAc.844G>C (p.Asp282His)
c.778G>C (p.Asp260His)
n.473G>C
c.946G>C (p.Asp316His)
c.757G>C (p.Asp253His)
n.472G>C
 ClinVar dbSNP gnomAD v4
19g.41422361G=CA2336459080BCKDHAc.844G= (p.Asp282=)
c.778G= (p.Asp260=)
n.473G=
c.946G= (p.Asp316=)
c.757G= (p.Asp253=)
n.472G=
19g.41422361G>TCA406013073BCKDHAc.844G>T (p.Asp282Tyr)
c.778G>T (p.Asp260Tyr)
n.473G>T
c.946G>T (p.Asp316Tyr)
c.757G>T (p.Asp253Tyr)
n.472G>T
19g.41422362A>CCA406013074BCKDHAc.845A>C (p.Asp282Ala)
c.779A>C (p.Asp260Ala)
n.474A>C
c.947A>C (p.Asp316Ala)
c.758A>C (p.Asp253Ala)
n.473A>C
19g.41422362A>GCA406013076BCKDHAc.845A>G (p.Asp282Gly)
c.779A>G (p.Asp260Gly)
n.474A>G
c.947A>G (p.Asp316Gly)
c.758A>G (p.Asp253Gly)
n.473A>G
 gnomAD v4
19g.41422362A>TCA406013075BCKDHAc.845A>T (p.Asp282Val)
c.779A>T (p.Asp260Val)
n.474A>T
c.947A>T (p.Asp316Val)
c.758A>T (p.Asp253Val)
n.473A>T
19g.41422363T>ACA406013077BCKDHAc.846T>A (p.Asp282Glu)
c.780T>A (p.Asp260Glu)
n.475T>A
c.948T>A (p.Asp316Glu)
c.759T>A (p.Asp253Glu)
n.474T>A
19g.41422363T>CCA507690670BCKDHAc.846T>C (p.Asp282=)
c.780T>C (p.Asp260=)
n.475T>C
c.948T>C (p.Asp316=)
c.759T>C (p.Asp253=)
n.474T>C
 gnomAD v4
19g.41422363T>GCA406013078BCKDHAc.846T>G (p.Asp282Glu)
c.780T>G (p.Asp260Glu)
n.475T>G
c.948T>G (p.Asp316Glu)
c.759T>G (p.Asp253Glu)
n.474T>G
19g.41422364G>ACA406013079BCKDHAc.847G>A (p.Gly283Ser)
c.781G>A (p.Gly261Ser)
n.476G>A
c.949G>A (p.Gly317Ser)
c.760G>A (p.Gly254Ser)
n.475G>A
19g.41422364G>CCA406013080BCKDHAc.847G>C (p.Gly283Arg)
c.781G>C (p.Gly261Arg)
n.476G>C
c.949G>C (p.Gly317Arg)
c.760G>C (p.Gly254Arg)
n.475G>C
19g.41422364G>TCA406013081BCKDHAc.847G>T (p.Gly283Cys)
c.781G>T (p.Gly261Cys)
n.476G>T
c.949G>T (p.Gly317Cys)
c.760G>T (p.Gly254Cys)
n.475G>T
19g.41422365G>ACA406013082BCKDHAc.848G>A (p.Gly283Asp)
c.782G>A (p.Gly261Asp)
n.477G>A
c.950G>A (p.Gly317Asp)
c.761G>A (p.Gly254Asp)
n.476G>A
19g.41422365G>CCA406013083BCKDHAc.848G>C (p.Gly283Ala)
c.782G>C (p.Gly261Ala)
n.477G>C
c.950G>C (p.Gly317Ala)
c.761G>C (p.Gly254Ala)
n.476G>C
19g.41422365G>TCA406013084BCKDHAc.848G>T (p.Gly283Val)
c.782G>T (p.Gly261Val)
n.477G>T
c.950G>T (p.Gly317Val)
c.761G>T (p.Gly254Val)
n.476G>T
19g.41422366C>ACA507690671BCKDHAc.849C>A (p.Gly283=)
c.783C>A (p.Gly261=)
n.478C>A
c.951C>A (p.Gly317=)
c.762C>A (p.Gly254=)
n.477C>A
19g.41422366C>GCA507690672BCKDHAc.849C>G (p.Gly283=)
c.783C>G (p.Gly261=)
n.478C>G
c.951C>G (p.Gly317=)
c.762C>G (p.Gly254=)
n.477C>G
19g.41422366C>TCA507690673BCKDHAc.849C>T (p.Gly283=)
c.783C>T (p.Gly261=)
n.478C>T
c.951C>T (p.Gly317=)
c.762C>T (p.Gly254=)
n.477C>T
19g.41422367A>CCA406013085BCKDHAc.850A>C (p.Ile284Leu)
c.784A>C (p.Ile262Leu)
n.479A>C
c.952A>C (p.Ile318Leu)
c.763A>C (p.Ile255Leu)
n.478A>C
19g.41422367A>GCA406013086BCKDHAc.850A>G (p.Ile284Val)
c.784A>G (p.Ile262Val)
n.479A>G
c.952A>G (p.Ile318Val)
c.763A>G (p.Ile255Val)
n.478A>G
19g.41422367A>TCA406013087BCKDHAc.850A>T (p.Ile284Phe)
c.784A>T (p.Ile262Phe)
n.479A>T
c.952A>T (p.Ile318Phe)
c.763A>T (p.Ile255Phe)
n.478A>T
19g.41422368T>ACA406013090BCKDHAc.851T>A (p.Ile284Asn)
c.785T>A (p.Ile262Asn)
n.480T>A
c.953T>A (p.Ile318Asn)
c.764T>A (p.Ile255Asn)
n.479T>A
19g.41422368T>CCA406013089BCKDHAc.851T>C (p.Ile284Thr)
c.785T>C (p.Ile262Thr)
n.480T>C
c.953T>C (p.Ile318Thr)
c.764T>C (p.Ile255Thr)
n.479T>C
19g.41422368T>GCA406013088BCKDHAc.851T>G (p.Ile284Ser)
c.785T>G (p.Ile262Ser)
n.480T>G
c.953T>G (p.Ile318Ser)
c.764T>G (p.Ile255Ser)
n.479T>G
19g.41422369T>ACA507690675BCKDHAc.852T>A (p.Ile284=)
c.786T>A (p.Ile262=)
n.481T>A
c.954T>A (p.Ile318=)
c.765T>A (p.Ile255=)
n.480T>A
 gnomAD v4
19g.41422369T>CCA507690676BCKDHAc.852T>C (p.Ile284=)
c.786T>C (p.Ile262=)
n.481T>C
c.954T>C (p.Ile318=)
c.765T>C (p.Ile255=)
n.480T>C
19g.41422369T>GCA406013092BCKDHAc.852T>G (p.Ile284Met)
c.786T>G (p.Ile262Met)
n.481T>G
c.954T>G (p.Ile318Met)
c.765T>G (p.Ile255Met)
n.480T>G
19g.41422370G>ACA406013096BCKDHAc.853G>A (p.Ala285Thr)
c.787G>A (p.Ala263Thr)
n.482G>A
c.955G>A (p.Ala319Thr)
c.766G>A (p.Ala256Thr)
n.481G>A
19g.41422370G>CCA221220BCKDHAc.853G>C (p.Ala285Pro)
c.787G>C (p.Ala263Pro)
n.482G>C
c.955G>C (p.Ala319Pro)
c.766G>C (p.Ala256Pro)
n.481G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422370G=CA2336459081BCKDHAc.853G= (p.Ala285=)
c.787G= (p.Ala263=)
n.482G=
c.955G= (p.Ala319=)
c.766G= (p.Ala256=)
n.481G=
19g.41422370G>TCA406013099BCKDHAc.853G>T (p.Ala285Ser)
c.787G>T (p.Ala263Ser)
n.482G>T
c.955G>T (p.Ala319Ser)
c.766G>T (p.Ala256Ser)
n.481G>T
 gnomAD v4
19g.41422371delCA2695228767BCKDHAc.853+1del
c.787+1del
n.482+1del
c.955+1del
c.766+1del
n.481+1del
19g.41422371G>ACA406013102BCKDHAc.853+1G>A (n.853+1G>A)
c.787+1G>A (n.787+1G>A)
n.482+1G>A
c.955+1G>A (n.955+1G>A)
c.766+1G>A (n.766+1G>A)
n.481+1G>A
19g.41422371G>CCA406013106BCKDHAc.853+1G>C (n.853+1G>C)
c.787+1G>C (n.787+1G>C)
n.482+1G>C
c.955+1G>C (n.955+1G>C)
c.766+1G>C (n.766+1G>C)
n.481+1G>C
 ClinVar
19g.41422371G=CA2336459082BCKDHAc.853+1G= (n.853+1G=)
c.787+1G= (n.787+1G=)
n.482+1G=
c.955+1G= (n.955+1G=)
c.766+1G= (n.766+1G=)
n.481+1G=
19g.41422371G>TCA406013104BCKDHAc.853+1G>T (n.853+1G>T)
c.787+1G>T (n.787+1G>T)
n.482+1G>T
c.955+1G>T (n.955+1G>T)
c.766+1G>T (n.766+1G>T)
n.481+1G>T
 ClinVar dbSNP
19g.41422372T>ACA406013109BCKDHAc.853+2T>A (n.853+2T>A)
c.787+2T>A (n.787+2T>A)
n.482+2T>A
c.955+2T>A (n.955+2T>A)
c.766+2T>A (n.766+2T>A)
n.481+2T>A
19g.41422372T>CCA9461272BCKDHAc.853+2T>C (n.853+2T>C)
c.787+2T>C (n.787+2T>C)
n.482+2T>C
c.955+2T>C (n.955+2T>C)
c.766+2T>C (n.766+2T>C)
n.481+2T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422372T>GCA406013113BCKDHAc.853+2T>G (n.853+2T>G)
c.787+2T>G (n.787+2T>G)
n.482+2T>G
c.955+2T>G (n.955+2T>G)
c.766+2T>G (n.766+2T>G)
n.481+2T>G
19g.41422372T=CA2336459083BCKDHAc.853+2T= (n.853+2T=)
c.787+2T= (n.787+2T=)
n.482+2T=
c.955+2T= (n.955+2T=)
c.766+2T= (n.766+2T=)
n.481+2T=
19g.41422375G>ACA9461273BCKDHAc.853+5G>A (n.853+5G>A)
c.787+5G>A (n.787+5G>A)
n.482+5G>A
c.955+5G>A (n.955+5G>A)
c.766+5G>A (n.766+5G>A)
n.481+5G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422375G=CA2336459084BCKDHAc.853+5G= (n.853+5G=)
c.787+5G= (n.787+5G=)
n.482+5G=
c.955+5G= (n.955+5G=)
c.766+5G= (n.766+5G=)
n.481+5G=
19g.41422377delCA2814427430BCKDHAc.853+7del (n.853+7del)
c.787+7del (n.787+7del)
n.482+7del
c.955+7del (n.955+7del)
c.766+7del (n.766+7del)
n.481+7del
19g.41422377G>CCA2336459086BCKDHAc.853+7G>C (n.853+7G>C)
c.787+7G>C (n.787+7G>C)
n.482+7G>C
c.955+7G>C (n.955+7G>C)
c.766+7G>C (n.766+7G>C)
n.481+7G>C
 dbSNP
19g.41422377G=CA2336459085BCKDHAc.853+7G= (n.853+7G=)
c.787+7G= (n.787+7G=)
n.482+7G=
c.955+7G= (n.955+7G=)
c.766+7G= (n.766+7G=)
n.481+7G=
19g.41422378C>TCA2580097295BCKDHAc.853+8C>T (n.853+8C>T)
c.787+8C>T (n.787+8C>T)
n.482+8C>T
c.955+8C>T (n.955+8C>T)
c.766+8C>T (n.766+8C>T)
n.481+8C>T
 ClinVar
19g.41422380C=CA2336459087BCKDHAc.853+10C= (n.853+10C=)
c.787+10C= (n.787+10C=)
n.482+10C=
c.955+10C= (n.955+10C=)
c.766+10C= (n.766+10C=)
n.481+10C=
19g.41422380C>TCA633470381BCKDHAc.853+10C>T (n.853+10C>T)
c.787+10C>T (n.787+10C>T)
n.482+10C>T
c.955+10C>T (n.955+10C>T)
c.766+10C>T (n.766+10C>T)
n.481+10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422381T>CCA658799239BCKDHAc.853+11T>C (n.853+11T>C)
c.787+11T>C (n.787+11T>C)
n.482+11T>C
c.955+11T>C (n.955+11T>C)
c.766+11T>C (n.766+11T>C)
n.481+11T>C
 ClinVar dbSNP
19g.41422381T=CA2336459088BCKDHAc.853+11T= (n.853+11T=)
c.787+11T= (n.787+11T=)
n.482+11T=
c.955+11T= (n.955+11T=)
c.766+11T= (n.766+11T=)
n.481+11T=
19g.41422382G>ACA633470382BCKDHAc.853+12G>A (n.853+12G>A)
c.787+12G>A (n.787+12G>A)
n.482+12G>A
c.955+12G>A (n.955+12G>A)
c.766+12G>A (n.766+12G>A)
n.481+12G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422382G=CA2336459089BCKDHAc.853+12G= (n.853+12G=)
c.787+12G= (n.787+12G=)
n.482+12G=
c.955+12G= (n.955+12G=)
c.766+12G= (n.766+12G=)
n.481+12G=
19g.41422383C=CA2336459090BCKDHAc.853+13C= (n.853+13C=)
c.787+13C= (n.787+13C=)
n.482+13C=
c.955+13C= (n.955+13C=)
c.766+13C= (n.766+13C=)
n.481+13C=
19g.41422383C>TCA633470383BCKDHAc.853+13C>T (n.853+13C>T)
c.787+13C>T (n.787+13C>T)
n.482+13C>T
c.955+13C>T (n.955+13C>T)
c.766+13C>T (n.766+13C>T)
n.481+13C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422383_41422384delCA2576793827BCKDHAc.853+13_853+14del (n.853+13_853+14del)
c.787+13_787+14del (n.787+13_787+14del)
n.482+13_482+14del
c.955+13_955+14del (n.955+13_955+14del)
c.766+13_766+14del (n.766+13_766+14del)
n.481+13_481+14del
19g.41422387C>ACA221219BCKDHAc.853+17C>A (n.853+17C>A)
c.787+17C>A (n.787+17C>A)
n.482+17C>A
c.955+17C>A (n.955+17C>A)
c.766+17C>A (n.766+17C>A)
n.481+17C>A
 ClinVar dbSNP
19g.41422387C=CA2336459091BCKDHAc.853+17C= (n.853+17C=)
c.787+17C= (n.787+17C=)
n.482+17C=
c.955+17C= (n.955+17C=)
c.766+17C= (n.766+17C=)
n.481+17C=
19g.41422387C>GCA2585307996BCKDHAc.853+17C>G (n.853+17C>G)
c.787+17C>G (n.787+17C>G)
n.482+17C>G
c.955+17C>G (n.955+17C>G)
c.766+17C>G (n.766+17C>G)
n.481+17C>G
 gnomAD v4
19g.41422387C>TCA2576793828BCKDHAc.853+17C>T (n.853+17C>T)
c.787+17C>T (n.787+17C>T)
n.482+17C>T
c.955+17C>T (n.955+17C>T)
c.766+17C>T (n.766+17C>T)
n.481+17C>T
19g.41422389G>ACA9461274BCKDHAc.853+19G>A (n.853+19G>A)
c.787+19G>A (n.787+19G>A)
n.482+19G>A
c.955+19G>A (n.955+19G>A)
c.766+19G>A (n.766+19G>A)
n.481+19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422389G=CA2336459092BCKDHAc.853+19G= (n.853+19G=)
c.787+19G= (n.787+19G=)
n.482+19G=
c.955+19G= (n.955+19G=)
c.766+19G= (n.766+19G=)
n.481+19G=
19g.41422389G>TCA657349423BCKDHAc.853+19G>T (n.853+19G>T)
c.787+19G>T (n.787+19G>T)
n.482+19G>T
c.955+19G>T (n.955+19G>T)
c.766+19G>T (n.766+19G>T)
n.481+19G>T
 ClinVar gnomAD v4 COSMIC
19g.41422390C=CA2336459093BCKDHAc.853+20C= (n.853+20C=)
c.787+20C= (n.787+20C=)
n.482+20C=
c.955+20C= (n.955+20C=)
c.766+20C= (n.766+20C=)
n.481+20C=
19g.41422390C>TCA9461275BCKDHAc.853+20C>T (n.853+20C>T)
c.787+20C>T (n.787+20C>T)
n.482+20C>T
c.955+20C>T (n.955+20C>T)
c.766+20C>T (n.766+20C>T)
n.481+20C>T
 ClinVar dbSNP ExAC gnomAD v4
19g.41422391T>CCA2585307997BCKDHAc.853+21T>C (n.853+21T>C)
c.787+21T>C (n.787+21T>C)
n.482+21T>C
c.955+21T>C (n.955+21T>C)
c.766+21T>C (n.766+21T>C)
n.481+21T>C
 gnomAD v4
19g.41422391T>GCA2585307998BCKDHAc.853+21T>G (n.853+21T>G)
c.787+21T>G (n.787+21T>G)
n.482+21T>G
c.955+21T>G (n.955+21T>G)
c.766+21T>G (n.766+21T>G)
n.481+21T>G
 gnomAD v4
19g.41422392C>ACA2585307999BCKDHAc.853+22C>A (n.853+22C>A)
c.787+22C>A (n.787+22C>A)
n.482+22C>A
c.955+22C>A (n.955+22C>A)
c.766+22C>A (n.766+22C>A)
n.481+22C>A
 gnomAD v4
19g.41422395delCA2576793829BCKDHAc.853+25del (n.853+25del)
c.787+25del (n.787+25del)
n.482+25del
c.955+25del (n.955+25del)
c.766+25del (n.766+25del)
n.481+25del
19g.41422394C>ACA633470342BCKDHAc.853+24C>A (n.853+24C>A)
c.787+24C>A (n.787+24C>A)
n.482+24C>A
c.955+24C>A (n.955+24C>A)
c.766+24C>A (n.766+24C>A)
n.481+24C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422394C=CA2336459094BCKDHAc.853+24C= (n.853+24C=)
c.787+24C= (n.787+24C=)
n.482+24C=
c.955+24C= (n.955+24C=)
c.766+24C= (n.766+24C=)
n.481+24C=
19g.41422395C>ACA2336459096BCKDHAc.853+25C>A (n.853+25C>A)
c.787+25C>A (n.787+25C>A)
n.482+25C>A
c.955+25C>A (n.955+25C>A)
c.766+25C>A (n.766+25C>A)
n.481+25C>A
 dbSNP
19g.41422395C=CA2336459095BCKDHAc.853+25C= (n.853+25C=)
c.787+25C= (n.787+25C=)
n.482+25C=
c.955+25C= (n.955+25C=)
c.766+25C= (n.766+25C=)
n.481+25C=
19g.41422395C>TCA9461276BCKDHAc.853+25C>T (n.853+25C>T)
c.787+25C>T (n.787+25C>T)
n.482+25C>T
c.955+25C>T (n.955+25C>T)
c.766+25C>T (n.766+25C>T)
n.481+25C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422396A=CA2336459097BCKDHAc.853+26A= (n.853+26A=)
c.787+26A= (n.787+26A=)
n.482+26A=
c.955+26A= (n.955+26A=)
c.766+26A= (n.766+26A=)
n.481+26A=
19g.41422396A>CCA995976542BCKDHAc.853+26A>C (n.853+26A>C)
c.787+26A>C (n.787+26A>C)
n.482+26A>C
c.955+26A>C (n.955+26A>C)
c.766+26A>C (n.766+26A>C)
n.481+26A>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422397C=CA2336459098BCKDHAc.853+27C= (n.853+27C=)
c.787+27C= (n.787+27C=)
n.482+27C=
c.955+27C= (n.955+27C=)
c.766+27C= (n.766+27C=)
n.481+27C=
19g.41422397C>TCA882349548BCKDHAc.853+27C>T (n.853+27C>T)
c.787+27C>T (n.787+27C>T)
n.482+27C>T
c.955+27C>T (n.955+27C>T)
c.766+27C>T (n.766+27C>T)
n.481+27C>T
 dbSNP gnomAD v4
19g.41422400delCA2576793830BCKDHAc.853+30del (n.853+30del)
c.787+30del (n.787+30del)
n.482+30del
c.955+30del (n.955+30del)
c.766+30del (n.766+30del)
n.481+30del
 gnomAD v4
19g.41422398C>ACA633470344BCKDHAc.853+28C>A (n.853+28C>A)
c.787+28C>A (n.787+28C>A)
n.482+28C>A
c.955+28C>A (n.955+28C>A)
c.766+28C>A (n.766+28C>A)
n.481+28C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422398C=CA2336459099BCKDHAc.853+28C= (n.853+28C=)
c.787+28C= (n.787+28C=)
n.482+28C=
c.955+28C= (n.955+28C=)
c.766+28C= (n.766+28C=)
n.481+28C=
19g.41422398C>TCA633470343BCKDHAc.853+28C>T (n.853+28C>T)
c.787+28C>T (n.787+28C>T)
n.482+28C>T
c.955+28C>T (n.955+28C>T)
c.766+28C>T (n.766+28C>T)
n.481+28C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422399C>ACA2576793831BCKDHAc.853+29C>A (n.853+29C>A)
c.787+29C>A (n.787+29C>A)
n.482+29C>A
c.955+29C>A (n.955+29C>A)
c.766+29C>A (n.766+29C>A)
n.481+29C>A
 gnomAD v4
19g.41422400C>ACA2585308000BCKDHAc.853+30C>A (n.853+30C>A)
c.787+30C>A (n.787+30C>A)
n.482+30C>A
c.955+30C>A (n.955+30C>A)
c.766+30C>A (n.766+30C>A)
n.481+30C>A
 gnomAD v4
19g.41422400C=CA2336459100BCKDHAc.853+30C= (n.853+30C=)
c.787+30C= (n.787+30C=)
n.482+30C=
c.955+30C= (n.955+30C=)
c.766+30C= (n.766+30C=)
n.481+30C=
19g.41422400C>TCA9461277BCKDHAc.853+30C>T (n.853+30C>T)
c.787+30C>T (n.787+30C>T)
n.482+30C>T
c.955+30C>T (n.955+30C>T)
c.766+30C>T (n.766+30C>T)
n.481+30C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422401G>ACA9461278BCKDHAc.853+31G>A (n.853+31G>A)
c.787+31G>A (n.787+31G>A)
n.482+31G>A
c.955+31G>A (n.955+31G>A)
c.766+31G>A (n.766+31G>A)
n.481+31G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422401G=CA2336459101BCKDHAc.853+31G= (n.853+31G=)
c.787+31G= (n.787+31G=)
n.482+31G=
c.955+31G= (n.955+31G=)
c.766+31G= (n.766+31G=)
n.481+31G=
19g.41422401G>TCA507690564BCKDHAc.853+31G>T (n.853+31G>T)
c.787+31G>T (n.787+31G>T)
n.482+31G>T
c.955+31G>T (n.955+31G>T)
c.766+31G>T (n.766+31G>T)
n.481+31G>T
 gnomAD v4
19g.41422402C>ACA2585308001BCKDHAc.853+32C>A (n.853+32C>A)
c.787+32C>A (n.787+32C>A)
n.482+32C>A
c.955+32C>A (n.955+32C>A)
c.766+32C>A (n.766+32C>A)
n.481+32C>A
 gnomAD v4
19g.41422403T=CA2336459102BCKDHAc.853+33T= (n.853+33T=)
c.787+33T= (n.787+33T=)
n.482+33T=
c.955+33T= (n.955+33T=)
c.766+33T= (n.766+33T=)
n.481+33T=
19g.41422404G>ACA308524527BCKDHAc.853+34G>A (n.853+34G>A)
c.787+34G>A (n.787+34G>A)
n.482+34G>A
c.955+34G>A (n.955+34G>A)
c.766+34G>A (n.766+34G>A)
n.481+34G>A
 dbSNP gnomAD v4
19g.41422404G=CA2336459103BCKDHAc.853+34G= (n.853+34G=)
c.787+34G= (n.787+34G=)
n.482+34G=
c.955+34G= (n.955+34G=)
c.766+34G= (n.766+34G=)
n.481+34G=
19g.41422406dupCA882349554BCKDHAc.853+36dup (n.853+36dup)
c.787+36dup (n.787+36dup)
n.482+36dup
c.955+36dup (n.955+36dup)
c.766+36dup (n.766+36dup)
n.481+36dup
 dbSNP
19g.41422406G>ACA2336459105BCKDHAc.853+36G>A (n.853+36G>A)
c.787+36G>A (n.787+36G>A)
n.482+36G>A
c.955+36G>A (n.955+36G>A)
c.766+36G>A (n.766+36G>A)
n.481+36G>A
 dbSNP gnomAD v4
19g.41422406G>CCA2585308002BCKDHAc.853+36G>C (n.853+36G>C)
c.787+36G>C (n.787+36G>C)
n.482+36G>C
c.955+36G>C (n.955+36G>C)
c.766+36G>C (n.766+36G>C)
n.481+36G>C
 gnomAD v4
19g.41422406G=CA2336459104BCKDHAc.853+36G= (n.853+36G=)
c.787+36G= (n.787+36G=)
n.482+36G=
c.955+36G= (n.955+36G=)
c.766+36G= (n.766+36G=)
n.481+36G=
19g.41422409C>ACA2585308003BCKDHAc.853+39C>A (n.853+39C>A)
c.787+39C>A (n.787+39C>A)
n.482+39C>A
c.955+39C>A (n.955+39C>A)
c.766+39C>A (n.766+39C>A)
n.481+39C>A
 gnomAD v4
19g.41422411T>CCA9461279BCKDHAc.853+41T>C (n.853+41T>C)
c.787+41T>C (n.787+41T>C)
n.482+41T>C
c.955+41T>C (n.955+41T>C)
c.766+41T>C (n.766+41T>C)
n.481+41T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422411T=CA2336459106BCKDHAc.853+41T= (n.853+41T=)
c.787+41T= (n.787+41T=)
n.482+41T=
c.955+41T= (n.955+41T=)
c.766+41T= (n.766+41T=)
n.481+41T=
19g.41422411_41422414delinsTCTCCA2336459107BCKDHAc.853+41_853+44delinsTCTC (n.853+41_853+44delinsTCTC)
c.787+41_787+44delinsTCTC (n.787+41_787+44delinsTCTC)
n.482+41_482+44delinsTCTC
c.955+41_955+44delinsTCTC (n.955+41_955+44delinsTCTC)
c.766+41_766+44delinsTCTC (n.766+41_766+44delinsTCTC)
n.481+41_481+44delinsTCTC
19g.41422412C=CA2336459109BCKDHAc.853+42C= (n.853+42C=)
c.787+42C= (n.787+42C=)
n.482+42C=
c.955+42C= (n.955+42C=)
c.766+42C= (n.766+42C=)
n.481+42C=
19g.41422412C>TCA995976547BCKDHAc.853+42C>T (n.853+42C>T)
c.787+42C>T (n.787+42C>T)
n.482+42C>T
c.955+42C>T (n.955+42C>T)
c.766+42C>T (n.766+42C>T)
n.481+42C>T
 dbSNP gnomAD v3 gnomAD v4
19g.41422414_41422416delCA2336459108BCKDHAc.853+44_853+46del (n.853+44_853+46del)
c.787+44_787+46del (n.787+44_787+46del)
n.482+44_482+46del
c.955+44_955+46del (n.955+44_955+46del)
c.766+44_766+46del (n.766+44_766+46del)
n.481+44_481+46del
 dbSNP gnomAD v4
19g.41422413T>CCA2585308004BCKDHAc.853+43T>C (n.853+43T>C)
c.787+43T>C (n.787+43T>C)
n.482+43T>C
c.955+43T>C (n.955+43T>C)
c.766+43T>C (n.766+43T>C)
n.481+43T>C
 gnomAD v4
19g.41422414C=CA2336459110BCKDHAc.853+44C= (n.853+44C=)
c.787+44C= (n.787+44C=)
n.482+44C=
c.955+44C= (n.955+44C=)
c.766+44C= (n.766+44C=)
n.481+44C=
19g.41422414C>TCA9461280BCKDHAc.853+44C>T (n.853+44C>T)
c.787+44C>T (n.787+44C>T)
n.482+44C>T
c.955+44C>T (n.955+44C>T)
c.766+44C>T (n.766+44C>T)
n.481+44C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422415C>TCA2585308005BCKDHAc.853+45C>T (n.853+45C>T)
c.787+45C>T (n.787+45C>T)
n.482+45C>T
c.955+45C>T (n.955+45C>T)
c.766+45C>T (n.766+45C>T)
n.481+45C>T
 gnomAD v4
19g.41422416T>GCA2585308006BCKDHAc.853+46T>G (n.853+46T>G)
c.787+46T>G (n.787+46T>G)
n.482+46T>G
c.955+46T>G (n.955+46T>G)
c.766+46T>G (n.766+46T>G)
n.481+46T>G
 gnomAD v4
19g.41422418C>ACA2814427442BCKDHAc.853+48C>A (n.853+48C>A)
c.787+48C>A (n.787+48C>A)
n.482+48C>A
c.955+48C>A (n.955+48C>A)
c.766+48C>A (n.766+48C>A)
n.481+48C>A

Number of alleles fetched