Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422609C=CA2336459190BCKDHAc.854-20C= (n.854-20C=)
c.788-20C= (n.788-20C=)
n.483-20C=
c.956-20C= (n.956-20C=)
c.767-20C= (n.767-20C=)
n.482-20C=
c.854-23C= (n.854-23C=)
19g.41422609C>TCA633470353BCKDHAc.854-20C>T (n.854-20C>T)
c.788-20C>T (n.788-20C>T)
n.483-20C>T
c.956-20C>T (n.956-20C>T)
c.767-20C>T (n.767-20C>T)
n.482-20C>T
c.854-23C>T (n.854-23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422610C=CA2336459191BCKDHAc.854-19C= (n.854-19C=)
c.788-19C= (n.788-19C=)
n.483-19C=
c.956-19C= (n.956-19C=)
c.767-19C= (n.767-19C=)
n.482-19C=
c.854-22C= (n.854-22C=)
19g.41422610C>TCA633470354BCKDHAc.854-19C>T (n.854-19C>T)
c.788-19C>T (n.788-19C>T)
n.483-19C>T
c.956-19C>T (n.956-19C>T)
c.767-19C>T (n.767-19C>T)
n.482-19C>T
c.854-22C>T (n.854-22C>T)
 dbSNP gnomAD v2
19g.41422615_41422616delCA2739276837BCKDHAc.854-14_854-13del (n.854-14_854-13del)
c.788-14_788-13del (n.788-14_788-13del)
n.483-14_483-13del
c.956-14_956-13del (n.956-14_956-13del)
c.767-14_767-13del (n.767-14_767-13del)
n.482-14_482-13del
c.854-17_854-16del (n.854-17_854-16del)
 ClinVar
19g.41422613C=CA2336459192BCKDHAc.854-16C= (n.854-16C=)
c.788-16C= (n.788-16C=)
n.483-16C=
c.956-16C= (n.956-16C=)
c.767-16C= (n.767-16C=)
n.482-16C=
c.854-19C= (n.854-19C=)
19g.41422613C>TCA9461286BCKDHAc.854-16C>T (n.854-16C>T)
c.788-16C>T (n.788-16C>T)
n.483-16C>T
c.956-16C>T (n.956-16C>T)
c.767-16C>T (n.767-16C>T)
n.482-16C>T
c.854-19C>T (n.854-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422615C=CA2336459193BCKDHAc.854-14C= (n.854-14C=)
c.788-14C= (n.788-14C=)
n.483-14C=
c.956-14C= (n.956-14C=)
c.767-14C= (n.767-14C=)
n.482-14C=
c.854-17C= (n.854-17C=)
19g.41422615C>GCA9461287BCKDHAc.854-14C>G (n.854-14C>G)
c.788-14C>G (n.788-14C>G)
n.483-14C>G
c.956-14C>G (n.956-14C>G)
c.767-14C>G (n.767-14C>G)
n.482-14C>G
c.854-17C>G (n.854-17C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422615C>TCA633470355BCKDHAc.854-14C>T (n.854-14C>T)
c.788-14C>T (n.788-14C>T)
n.483-14C>T
c.956-14C>T (n.956-14C>T)
c.767-14C>T (n.767-14C>T)
n.482-14C>T
c.854-17C>T (n.854-17C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422616T>GCA633470356BCKDHAc.854-13T>G (n.854-13T>G)
c.788-13T>G (n.788-13T>G)
n.483-13T>G
c.956-13T>G (n.956-13T>G)
c.767-13T>G (n.767-13T>G)
n.482-13T>G
c.854-16T>G (n.854-16T>G)
 dbSNP gnomAD v2
19g.41422616T=CA2336459194BCKDHAc.854-13T= (n.854-13T=)
c.788-13T= (n.788-13T=)
n.483-13T=
c.956-13T= (n.956-13T=)
c.767-13T= (n.767-13T=)
n.482-13T=
c.854-16T= (n.854-16T=)
19g.41422617G>ACA2585308114BCKDHAc.854-12G>A (n.854-12G>A)
c.788-12G>A (n.788-12G>A)
n.483-12G>A
c.956-12G>A (n.956-12G>A)
c.767-12G>A (n.767-12G>A)
n.482-12G>A
c.854-15G>A (n.854-15G>A)
 gnomAD v4
19g.41422619G>ACA2585308115BCKDHAc.854-10G>A (n.854-10G>A)
c.788-10G>A (n.788-10G>A)
n.483-10G>A
c.956-10G>A (n.956-10G>A)
c.767-10G>A (n.767-10G>A)
n.482-10G>A
c.854-13G>A (n.854-13G>A)
 gnomAD v4
19g.41422619_41422632delinsGTCCCCACAGCAGCCA2336459195BCKDHAc.854-10_857delinsGTCCCCACAGCAGC
c.788-10_791delinsGTCCCCACAGCAGC
n.483-10_486delinsGTCCCCACAGCAGC
c.956-10_959delinsGTCCCCACAGCAGC
c.767-10_770delinsGTCCCCACAGCAGC
n.482-10_485delinsGTCCCCACAGCAGC
c.854-13_854delinsGTCCCCACAGCAGC
19g.41422620_41422621delinsTCCA2336459197BCKDHAc.854-9_854-8delinsTC (n.854-9_854-8delinsTC)
c.788-9_788-8delinsTC (n.788-9_788-8delinsTC)
n.483-9_483-8delinsTC
c.956-9_956-8delinsTC (n.956-9_956-8delinsTC)
c.767-9_767-8delinsTC (n.767-9_767-8delinsTC)
n.482-9_482-8delinsTC
c.854-12_854-11delinsTC (n.854-12_854-11delinsTC)
19g.41422620_41422632delCA2336459196BCKDHAc.854-9_857del
c.788-9_791del
n.483-9_486del
c.956-9_959del
c.767-9_770del
n.482-9_485del
c.854-12_854del
 dbSNP
19g.41422621C=CA2336459198BCKDHAc.854-8C= (n.854-8C=)
c.788-8C= (n.788-8C=)
n.483-8C=
c.956-8C= (n.956-8C=)
c.767-8C= (n.767-8C=)
n.482-8C=
c.854-11C= (n.854-11C=)
19g.41422621C>TCA308524656BCKDHAc.854-8C>T (n.854-8C>T)
c.788-8C>T (n.788-8C>T)
n.483-8C>T
c.956-8C>T (n.956-8C>T)
c.767-8C>T (n.767-8C>T)
n.482-8C>T
c.854-11C>T (n.854-11C>T)
 ClinVar dbSNP gnomAD v2
19g.41422624delCA633470357BCKDHAc.854-5del (n.854-5del)
c.788-5del (n.788-5del)
n.483-5del
c.956-5del (n.956-5del)
c.767-5del (n.767-5del)
n.482-5del
c.854-8del (n.854-8del)
 dbSNP gnomAD v2 gnomAD v4
19g.41422623C>ACA633470358BCKDHAc.854-6C>A (n.854-6C>A)
c.788-6C>A (n.788-6C>A)
n.483-6C>A
c.956-6C>A (n.956-6C>A)
c.767-6C>A (n.767-6C>A)
n.482-6C>A
c.854-9C>A (n.854-9C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41422623C=CA2336459199BCKDHAc.854-6C= (n.854-6C=)
c.788-6C= (n.788-6C=)
n.483-6C=
c.956-6C= (n.956-6C=)
c.767-6C= (n.767-6C=)
n.482-6C=
c.854-9C= (n.854-9C=)
19g.41422624C>TCA2585308116BCKDHAc.854-5C>T (n.854-5C>T)
c.788-5C>T (n.788-5C>T)
n.483-5C>T
c.956-5C>T (n.956-5C>T)
c.767-5C>T (n.767-5C>T)
n.482-5C>T
c.854-8C>T (n.854-8C>T)
 gnomAD v4
19g.41422625A>GCA2585308117BCKDHAc.854-4A>G (n.854-4A>G)
c.788-4A>G (n.788-4A>G)
n.483-4A>G
c.956-4A>G (n.956-4A>G)
c.767-4A>G (n.767-4A>G)
n.482-4A>G
c.854-7A>G (n.854-7A>G)
 gnomAD v4
19g.41422627A=CA2336459200BCKDHAc.854-2A= (n.854-2A=)
c.788-2A= (n.788-2A=)
n.483-2A=
c.956-2A= (n.956-2A=)
c.767-2A= (n.767-2A=)
n.482-2A=
c.854-5A= (n.854-5A=)
19g.41422627A>CCA406013166BCKDHAc.854-2A>C (n.854-2A>C)
c.788-2A>C (n.788-2A>C)
n.483-2A>C
c.956-2A>C (n.956-2A>C)
c.767-2A>C (n.767-2A>C)
n.482-2A>C
c.854-5A>C (n.854-5A>C)
19g.41422627A>GCA9461288BCKDHAc.854-2A>G (n.854-2A>G)
c.788-2A>G (n.788-2A>G)
n.483-2A>G
c.956-2A>G (n.956-2A>G)
c.767-2A>G (n.767-2A>G)
n.482-2A>G
c.854-5A>G (n.854-5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422627A>TCA406013169BCKDHAc.854-2A>T (n.854-2A>T)
c.788-2A>T (n.788-2A>T)
n.483-2A>T
c.956-2A>T (n.956-2A>T)
c.767-2A>T (n.767-2A>T)
n.482-2A>T
c.854-5A>T (n.854-5A>T)
19g.41422628G>ACA406013172BCKDHAc.854-1G>A (n.854-1G>A)
c.788-1G>A (n.788-1G>A)
n.483-1G>A
c.956-1G>A (n.956-1G>A)
c.767-1G>A (n.767-1G>A)
n.482-1G>A
c.854-4G>A (n.854-4G>A)
19g.41422628G>CCA406013177BCKDHAc.854-1G>C (n.854-1G>C)
c.788-1G>C (n.788-1G>C)
n.483-1G>C
c.956-1G>C (n.956-1G>C)
c.767-1G>C (n.767-1G>C)
n.482-1G>C
c.854-4G>C (n.854-4G>C)
19g.41422628G>TCA406013178BCKDHAc.854-1G>T (n.854-1G>T)
c.788-1G>T (n.788-1G>T)
n.483-1G>T
c.956-1G>T (n.956-1G>T)
c.767-1G>T (n.767-1G>T)
n.482-1G>T
c.854-4G>T (n.854-4G>T)
19g.41422629C>ACA406013181BCKDHAc.854C>A (p.Ala285Glu)
c.788C>A (p.Ala263Glu)
n.483C>A
c.956C>A (p.Ala319Glu)
c.767C>A (p.Ala256Glu)
n.482C>A
c.854-3C>A (n.854-3C>A)
19g.41422629C>GCA406013179BCKDHAc.854C>G (p.Ala285Gly)
c.788C>G (p.Ala263Gly)
n.483C>G
c.956C>G (p.Ala319Gly)
c.767C>G (p.Ala256Gly)
n.482C>G
c.854-3C>G (n.854-3C>G)
19g.41422629C>TCA406013180BCKDHAc.854C>T (p.Ala285Val)
c.788C>T (p.Ala263Val)
n.483C>T
c.956C>T (p.Ala319Val)
c.767C>T (p.Ala256Val)
n.482C>T
c.854-3C>T (n.854-3C>T)
19g.41422630A>CCA507690598BCKDHAc.855A>C (p.Ala285=)
c.789A>C (p.Ala263=)
n.484A>C
c.957A>C (p.Ala319=)
c.768A>C (p.Ala256=)
n.483A>C
c.854-2A>C (n.854-2A>C)
19g.41422630A>GCA507690597BCKDHAc.855A>G (p.Ala285=)
c.789A>G (p.Ala263=)
n.484A>G
c.957A>G (p.Ala319=)
c.768A>G (p.Ala256=)
n.483A>G
c.854-2A>G (n.854-2A>G)
19g.41422630A>TCA507690596BCKDHAc.855A>T (p.Ala285=)
c.789A>T (p.Ala263=)
n.484A>T
c.957A>T (p.Ala319=)
c.768A>T (p.Ala256=)
n.483A>T
c.854-2A>T (n.854-2A>T)
19g.41422631G>ACA406013184BCKDHAc.856G>A (p.Ala286Thr)
c.790G>A (p.Ala264Thr)
n.485G>A
c.958G>A (p.Ala320Thr)
c.769G>A (p.Ala257Thr)
n.484G>A
c.854-1G>A (n.854-1G>A)
19g.41422631G>CCA406013186BCKDHAc.856G>C (p.Ala286Pro)
c.790G>C (p.Ala264Pro)
n.485G>C
c.958G>C (p.Ala320Pro)
c.769G>C (p.Ala257Pro)
n.484G>C
c.854-1G>C (n.854-1G>C)
19g.41422631G>TCA406013188BCKDHAc.856G>T (p.Ala286Ser)
c.790G>T (p.Ala264Ser)
n.485G>T
c.958G>T (p.Ala320Ser)
c.769G>T (p.Ala257Ser)
n.484G>T
c.854-1G>T (n.854-1G>T)
19g.41422632C>ACA406013192BCKDHAc.857C>A (p.Ala286Glu)
c.791C>A (p.Ala264Glu)
n.486C>A
c.959C>A (p.Ala320Glu)
c.770C>A (p.Ala257Glu)
n.485C>A
c.854C>A (p.Ala285Glu)
19g.41422632C>GCA406013195BCKDHAc.857C>G (p.Ala286Gly)
c.791C>G (p.Ala264Gly)
n.486C>G
c.959C>G (p.Ala320Gly)
c.770C>G (p.Ala257Gly)
n.485C>G
c.854C>G (p.Ala285Gly)
19g.41422632C>TCA406013197BCKDHAc.857C>T (p.Ala286Val)
c.791C>T (p.Ala264Val)
n.486C>T
c.959C>T (p.Ala320Val)
c.770C>T (p.Ala257Val)
n.485C>T
c.854C>T (p.Ala285Val)
19g.41422633A>CCA507690602BCKDHAc.858A>C (p.Ala286=)
c.792A>C (p.Ala264=)
n.487A>C
c.960A>C (p.Ala320=)
c.771A>C (p.Ala257=)
n.486A>C
c.855A>C (p.Ala285=)
19g.41422633A>GCA507690604BCKDHAc.858A>G (p.Ala286=)
c.792A>G (p.Ala264=)
n.487A>G
c.960A>G (p.Ala320=)
c.771A>G (p.Ala257=)
n.486A>G
c.855A>G (p.Ala285=)
19g.41422633A>TCA507690605BCKDHAc.858A>T (p.Ala286=)
c.792A>T (p.Ala264=)
n.487A>T
c.960A>T (p.Ala320=)
c.771A>T (p.Ala257=)
n.486A>T
c.855A>T (p.Ala285=)
19g.41422633_41422641delinsACGAGGCCCCA2336459201BCKDHAc.858_866delinsACGAGGCCC (p.Ala286=)
c.792_800delinsACGAGGCCC (p.Ala264=)
n.487_495delinsACGAGGCCC
c.960_968delinsACGAGGCCC (p.Ala320=)
c.771_779delinsACGAGGCCC (p.Ala257=)
n.486_494delinsACGAGGCCC
c.855_863delinsACGAGGCCC (p.Ala285=)
19g.41422634C>ACA507690606BCKDHAc.859C>A (p.Arg287=)
c.793C>A (p.Arg265=)
n.488C>A
c.961C>A (p.Arg321=)
c.772C>A (p.Arg258=)
n.487C>A
c.856C>A (p.Arg286=)
19g.41422634C=CA2336459202BCKDHAc.859C= (p.Arg287=)
c.793C= (p.Arg265=)
n.488C=
c.961C= (p.Arg321=)
c.772C= (p.Arg258=)
n.487C=
c.856C= (p.Arg286=)
19g.41422634C>GCA9461289BCKDHAc.859C>G (p.Arg287Gly)
c.793C>G (p.Arg265Gly)
n.488C>G
c.961C>G (p.Arg321Gly)
c.772C>G (p.Arg258Gly)
n.487C>G
c.856C>G (p.Arg286Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422634C>TCA9461290BCKDHAc.859C>T (p.Arg287Ter)
c.793C>T (p.Arg265Ter)
n.488C>T
c.961C>T (p.Arg321Ter)
c.772C>T (p.Arg258Ter)
n.487C>T
c.856C>T (p.Arg286Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.41422635G>ACA9461291BCKDHAc.860G>A (p.Arg287Gln)
c.794G>A (p.Arg265Gln)
n.489G>A
c.962G>A (p.Arg321Gln)
c.773G>A (p.Arg258Gln)
n.488G>A
c.857G>A (p.Arg286Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422635G>CCA406013204BCKDHAc.860G>C (p.Arg287Pro)
c.794G>C (p.Arg265Pro)
n.489G>C
c.962G>C (p.Arg321Pro)
c.773G>C (p.Arg258Pro)
n.488G>C
c.857G>C (p.Arg286Pro)
19g.41422635G=CA2336459203BCKDHAc.860G= (p.Arg287=)
c.794G= (p.Arg265=)
n.489G=
c.962G= (p.Arg321=)
c.773G= (p.Arg258=)
n.488G=
c.857G= (p.Arg286=)
19g.41422635G>TCA406013206BCKDHAc.860G>T (p.Arg287Leu)
c.794G>T (p.Arg265Leu)
n.489G>T
c.962G>T (p.Arg321Leu)
c.773G>T (p.Arg258Leu)
n.488G>T
c.857G>T (p.Arg286Leu)
19g.41422636A>CCA507690609BCKDHAc.861A>C (p.Arg287=)
c.795A>C (p.Arg265=)
n.490A>C
c.963A>C (p.Arg321=)
c.774A>C (p.Arg258=)
n.489A>C
c.858A>C (p.Arg286=)
19g.41422636A>GCA507690611BCKDHAc.861A>G (p.Arg287=)
c.795A>G (p.Arg265=)
n.490A>G
c.963A>G (p.Arg321=)
c.774A>G (p.Arg258=)
n.489A>G
c.858A>G (p.Arg286=)
19g.41422636A>TCA507690613BCKDHAc.861A>T (p.Arg287=)
c.795A>T (p.Arg265=)
n.490A>T
c.963A>T (p.Arg321=)
c.774A>T (p.Arg258=)
n.489A>T
c.858A>T (p.Arg286=)
19g.41422637G>ACA406013212BCKDHAc.862G>A (p.Gly288Ser)
c.796G>A (p.Gly266Ser)
n.491G>A
c.964G>A (p.Gly322Ser)
c.775G>A (p.Gly259Ser)
n.490G>A
c.859G>A (p.Gly287Ser)
19g.41422637G>CCA406013214BCKDHAc.862G>C (p.Gly288Arg)
c.796G>C (p.Gly266Arg)
n.491G>C
c.964G>C (p.Gly322Arg)
c.775G>C (p.Gly259Arg)
n.490G>C
c.859G>C (p.Gly287Arg)
19g.41422637G>TCA406013210BCKDHAc.862G>T (p.Gly288Cys)
c.796G>T (p.Gly266Cys)
n.491G>T
c.964G>T (p.Gly322Cys)
c.775G>T (p.Gly259Cys)
n.490G>T
c.859G>T (p.Gly287Cys)
19g.41422638G>ACA406013220BCKDHAc.863G>A (p.Gly288Asp)
c.797G>A (p.Gly266Asp)
n.492G>A
c.965G>A (p.Gly322Asp)
c.776G>A (p.Gly259Asp)
n.491G>A
c.860G>A (p.Gly287Asp)
19g.41422638G>CCA406013216BCKDHAc.863G>C (p.Gly288Ala)
c.797G>C (p.Gly266Ala)
n.492G>C
c.965G>C (p.Gly322Ala)
c.776G>C (p.Gly259Ala)
n.491G>C
c.860G>C (p.Gly287Ala)
19g.41422638G>TCA406013218BCKDHAc.863G>T (p.Gly288Val)
c.797G>T (p.Gly266Val)
n.492G>T
c.965G>T (p.Gly322Val)
c.776G>T (p.Gly259Val)
n.491G>T
c.860G>T (p.Gly287Val)
19g.41422639C>ACA507690617BCKDHAc.864C>A (p.Gly288=)
c.798C>A (p.Gly266=)
n.493C>A
c.966C>A (p.Gly322=)
c.777C>A (p.Gly259=)
n.492C>A
c.861C>A (p.Gly287=)
19g.41422639C>GCA507690618BCKDHAc.864C>G (p.Gly288=)
c.798C>G (p.Gly266=)
n.493C>G
c.966C>G (p.Gly322=)
c.777C>G (p.Gly259=)
n.492C>G
c.861C>G (p.Gly287=)
19g.41422639C>TCA507690619BCKDHAc.864C>T (p.Gly288=)
c.798C>T (p.Gly266=)
n.493C>T
c.966C>T (p.Gly322=)
c.777C>T (p.Gly259=)
n.492C>T
c.861C>T (p.Gly287=)
19g.41422640C>ACA406013223BCKDHAc.865C>A (p.Pro289Thr)
c.799C>A (p.Pro267Thr)
n.494C>A
c.967C>A (p.Pro323Thr)
c.778C>A (p.Pro260Thr)
n.493C>A
c.862C>A (p.Pro288Thr)
19g.41422640C>GCA406013225BCKDHAc.865C>G (p.Pro289Ala)
c.799C>G (p.Pro267Ala)
n.494C>G
c.967C>G (p.Pro323Ala)
c.778C>G (p.Pro260Ala)
n.493C>G
c.862C>G (p.Pro288Ala)
19g.41422640C>TCA406013227BCKDHAc.865C>T (p.Pro289Ser)
c.799C>T (p.Pro267Ser)
n.494C>T
c.967C>T (p.Pro323Ser)
c.778C>T (p.Pro260Ser)
n.493C>T
c.862C>T (p.Pro288Ser)
19g.41422641C>ACA406013229BCKDHAc.866C>A (p.Pro289His)
c.800C>A (p.Pro267His)
n.495C>A
c.968C>A (p.Pro323His)
c.779C>A (p.Pro260His)
n.494C>A
c.863C>A (p.Pro288His)
19g.41422641C>GCA406013231BCKDHAc.866C>G (p.Pro289Arg)
c.800C>G (p.Pro267Arg)
n.495C>G
c.968C>G (p.Pro323Arg)
c.779C>G (p.Pro260Arg)
n.494C>G
c.863C>G (p.Pro288Arg)
19g.41422641C>TCA406013235BCKDHAc.866C>T (p.Pro289Leu)
c.800C>T (p.Pro267Leu)
n.495C>T
c.968C>T (p.Pro323Leu)
c.779C>T (p.Pro260Leu)
n.494C>T
c.863C>T (p.Pro288Leu)
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)

Number of alleles fetched