Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410880C>ACA2525417320BCKDHAc.289-43C>A (n.289-43C>A)
c.223-43C>A (n.223-43C>A)
n.372C>A
c.391-43C>A (n.391-43C>A)
c.96-43C>A
c.288+64C>A (n.288+64C>A)
19g.41410880C=CA2336453886BCKDHAc.289-43C= (n.289-43C=)
c.223-43C= (n.223-43C=)
n.372C=
c.391-43C= (n.391-43C=)
c.96-43C=
c.288+64C= (n.288+64C=)
19g.41410880C>GCA9461065BCKDHAc.289-43C>G (n.289-43C>G)
c.223-43C>G (n.223-43C>G)
n.372C>G
c.391-43C>G (n.391-43C>G)
c.96-43C>G
c.288+64C>G (n.288+64C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410880C>TCA308515588BCKDHAc.289-43C>T (n.289-43C>T)
c.223-43C>T (n.223-43C>T)
n.372C>T
c.391-43C>T (n.391-43C>T)
c.96-43C>T
c.288+64C>T (n.288+64C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41410881T>ACA633165029BCKDHAc.289-42T>A (n.289-42T>A)
c.223-42T>A (n.223-42T>A)
n.373T>A
c.391-42T>A (n.391-42T>A)
c.96-42T>A
c.288+65T>A (n.288+65T>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41410881T>CCA2585306827BCKDHAc.289-42T>C (n.289-42T>C)
c.223-42T>C (n.223-42T>C)
n.373T>C
c.391-42T>C (n.391-42T>C)
c.96-42T>C
c.288+65T>C (n.288+65T>C)
 gnomAD v4
19g.41410881T=CA2336453887BCKDHAc.289-42T= (n.289-42T=)
c.223-42T= (n.223-42T=)
n.373T=
c.391-42T= (n.391-42T=)
c.96-42T=
c.288+65T= (n.288+65T=)
19g.41410882G>CCA9461066BCKDHAc.289-41G>C (n.289-41G>C)
c.223-41G>C (n.223-41G>C)
n.374G>C
c.391-41G>C (n.391-41G>C)
c.96-41G>C
c.288+66G>C (n.288+66G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410882G=CA2336453888BCKDHAc.289-41G= (n.289-41G=)
c.223-41G= (n.223-41G=)
n.374G=
c.391-41G= (n.391-41G=)
c.96-41G=
c.288+66G= (n.288+66G=)
19g.41410883G>ACA2585306828BCKDHAc.289-40G>A (n.289-40G>A)
c.223-40G>A (n.223-40G>A)
n.375G>A
c.391-40G>A (n.391-40G>A)
c.96-40G>A
c.288+67G>A (n.288+67G>A)
 gnomAD v4
19g.41410883G>CCA2336453890BCKDHAc.289-40G>C (n.289-40G>C)
c.223-40G>C (n.223-40G>C)
n.375G>C
c.391-40G>C (n.391-40G>C)
c.96-40G>C
c.288+67G>C (n.288+67G>C)
 dbSNP gnomAD v4
19g.41410883G=CA2336453889BCKDHAc.289-40G= (n.289-40G=)
c.223-40G= (n.223-40G=)
n.375G=
c.391-40G= (n.391-40G=)
c.96-40G=
c.288+67G= (n.288+67G=)
19g.41410885C=CA2336453891BCKDHAc.289-38C= (n.289-38C=)
c.223-38C= (n.223-38C=)
n.377C=
c.391-38C= (n.391-38C=)
c.96-38C=
c.288+69C= (n.288+69C=)
19g.41410885C>TCA633165030BCKDHAc.289-38C>T (n.289-38C>T)
c.223-38C>T (n.223-38C>T)
n.377C>T
c.391-38C>T (n.391-38C>T)
c.96-38C>T
c.288+69C>T (n.288+69C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41410886C>TCA2576793741BCKDHAc.289-37C>T (n.289-37C>T)
c.223-37C>T (n.223-37C>T)
n.378C>T
c.391-37C>T (n.391-37C>T)
c.96-37C>T
c.288+70C>T (n.288+70C>T)
19g.41410886_41410887insATGGTGTTAAGCAGTGTCA2814435381BCKDHAc.289-37_289-36insATGGTGTTAAGCAGTGT (n.289-37_289-36insATGGTGTTAAGCAGTGT)
c.223-37_223-36insATGGTGTTAAGCAGTGT (n.223-37_223-36insATGGTGTTAAGCAGTGT)
n.378_379insATGGTGTTAAGCAGTGT
c.391-37_391-36insATGGTGTTAAGCAGTGT (n.391-37_391-36insATGGTGTTAAGCAGTGT)
c.96-37_96-36insATGGTGTTAAGCAGTGT
c.288+70_288+71insATGGTGTTAAGCAGTGT (n.288+70_288+71insATGGTGTTAAGCAGTGT)
19g.41410887C=CA2336453892BCKDHAc.289-36C= (n.289-36C=)
c.223-36C= (n.223-36C=)
n.379C=
c.391-36C= (n.391-36C=)
c.96-36C=
c.288+71C= (n.288+71C=)
19g.41410889dupCA9461067BCKDHAc.289-34dup (n.289-34dup)
c.223-34dup (n.223-34dup)
n.381dup
c.391-34dup (n.391-34dup)
c.96-34dup
c.288+73dup (n.288+73dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410889A=CA2336453893BCKDHAc.289-34A= (n.289-34A=)
c.223-34A= (n.223-34A=)
n.381A=
c.391-34A= (n.391-34A=)
c.96-34A=
c.288+73A= (n.288+73A=)
19g.41410889A>CCA9461069BCKDHAc.289-34A>C (n.289-34A>C)
c.223-34A>C (n.223-34A>C)
n.381A>C
c.391-34A>C (n.391-34A>C)
c.96-34A>C
c.288+73A>C (n.288+73A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410889A>GCA9461068BCKDHAc.289-34A>G (n.289-34A>G)
c.223-34A>G (n.223-34A>G)
n.381A>G
c.391-34A>G (n.391-34A>G)
c.96-34A>G
c.288+73A>G (n.288+73A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410890C>GCA2585306829BCKDHAc.289-33C>G (n.289-33C>G)
c.223-33C>G (n.223-33C>G)
n.382C>G
c.391-33C>G (n.391-33C>G)
c.96-33C>G
c.288+74C>G (n.288+74C>G)
 gnomAD v4
19g.41410890C>TCA2585306830BCKDHAc.289-33C>T (n.289-33C>T)
c.223-33C>T (n.223-33C>T)
n.382C>T
c.391-33C>T (n.391-33C>T)
c.96-33C>T
c.288+74C>T (n.288+74C>T)
 gnomAD v4
19g.41410891T>CCA2735979404BCKDHAc.289-32T>C (n.289-32T>C)
c.223-32T>C (n.223-32T>C)
n.383T>C
c.391-32T>C (n.391-32T>C)
c.96-32T>C
c.288+75T>C (n.288+75T>C)
 dbSNP
19g.41410892G>ACA9461070BCKDHAc.289-31G>A (n.289-31G>A)
c.223-31G>A (n.223-31G>A)
n.384G>A
c.391-31G>A (n.391-31G>A)
c.96-31G>A
c.288+76G>A (n.288+76G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410892G=CA2336453894BCKDHAc.289-31G= (n.289-31G=)
c.223-31G= (n.223-31G=)
n.384G=
c.391-31G= (n.391-31G=)
c.96-31G=
c.288+76G= (n.288+76G=)
19g.41410894C>TCA2585306831BCKDHAc.289-29C>T (n.289-29C>T)
c.223-29C>T (n.223-29C>T)
n.386C>T
c.391-29C>T (n.391-29C>T)
c.96-29C>T
c.288+78C>T (n.288+78C>T)
 gnomAD v4
19g.41410895C=CA2336453895BCKDHAc.289-28C= (n.289-28C=)
c.223-28C= (n.223-28C=)
n.387C=
c.391-28C= (n.391-28C=)
c.96-28C=
c.288+79C= (n.288+79C=)
19g.41410895C>GCA2585306832BCKDHAc.289-28C>G (n.289-28C>G)
c.223-28C>G (n.223-28C>G)
n.387C>G
c.391-28C>G (n.391-28C>G)
c.96-28C>G
c.288+79C>G (n.288+79C>G)
 gnomAD v4
19g.41410895C>TCA9461071BCKDHAc.289-28C>T (n.289-28C>T)
c.223-28C>T (n.223-28C>T)
n.387C>T
c.391-28C>T (n.391-28C>T)
c.96-28C>T
c.288+79C>T (n.288+79C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410898C>ACA633165032BCKDHAc.289-25C>A (n.289-25C>A)
c.223-25C>A (n.223-25C>A)
n.390C>A
c.391-25C>A (n.391-25C>A)
c.96-25C>A
c.288+82C>A (n.288+82C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41410898C=CA2336453896BCKDHAc.289-25C= (n.289-25C=)
c.223-25C= (n.223-25C=)
n.390C=
c.391-25C= (n.391-25C=)
c.96-25C=
c.288+82C= (n.288+82C=)
19g.41410898C>GCA633165031BCKDHAc.289-25C>G (n.289-25C>G)
c.223-25C>G (n.223-25C>G)
n.390C>G
c.391-25C>G (n.391-25C>G)
c.96-25C>G
c.288+82C>G (n.288+82C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.41410898C>TCA9461072BCKDHAc.289-25C>T (n.289-25C>T)
c.223-25C>T (n.223-25C>T)
n.390C>T
c.391-25C>T (n.391-25C>T)
c.96-25C>T
c.288+82C>T (n.288+82C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410899G>ACA9461073BCKDHAc.289-24G>A (n.289-24G>A)
c.223-24G>A (n.223-24G>A)
n.391G>A
c.391-24G>A (n.391-24G>A)
c.96-24G>A
c.288+83G>A (n.288+83G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410899G>CCA9461074BCKDHAc.289-24G>C (n.289-24G>C)
c.223-24G>C (n.223-24G>C)
n.391G>C
c.391-24G>C (n.391-24G>C)
c.96-24G>C
c.288+83G>C (n.288+83G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410899G=CA2336453897BCKDHAc.289-24G= (n.289-24G=)
c.223-24G= (n.223-24G=)
n.391G=
c.391-24G= (n.391-24G=)
c.96-24G=
c.288+83G= (n.288+83G=)
19g.41410903A=CA2336453898BCKDHAc.289-20A= (n.289-20A=)
c.223-20A= (n.223-20A=)
n.395A=
c.391-20A= (n.391-20A=)
c.96-20A=
c.288+87A= (n.288+87A=)
19g.41410903A>GCA633165033BCKDHAc.289-20A>G (n.289-20A>G)
c.223-20A>G (n.223-20A>G)
n.395A>G
c.391-20A>G (n.391-20A>G)
c.96-20A>G
c.288+87A>G (n.288+87A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410903A>TCA2585306833BCKDHAc.289-20A>T (n.289-20A>T)
c.223-20A>T (n.223-20A>T)
n.395A>T
c.391-20A>T (n.391-20A>T)
c.96-20A>T
c.288+87A>T (n.288+87A>T)
 gnomAD v4
19g.41410905C=CA2336453899BCKDHAc.289-18C= (n.289-18C=)
c.223-18C= (n.223-18C=)
n.397C=
c.391-18C= (n.391-18C=)
c.96-18C=
c.288+89C= (n.288+89C=)
19g.41410905C>TCA633165034BCKDHAc.289-18C>T (n.289-18C>T)
c.223-18C>T (n.223-18C>T)
n.397C>T
c.391-18C>T (n.391-18C>T)
c.96-18C>T
c.288+89C>T (n.288+89C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41410906T>GCA308515659BCKDHAc.289-17T>G (n.289-17T>G)
c.223-17T>G (n.223-17T>G)
n.398T>G
c.391-17T>G (n.391-17T>G)
c.96-17T>G
c.288+90T>G (n.288+90T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410906T=CA2336453900BCKDHAc.289-17T= (n.289-17T=)
c.223-17T= (n.223-17T=)
n.398T=
c.391-17T= (n.391-17T=)
c.96-17T=
c.288+90T= (n.288+90T=)
19g.41410907G>ACA2585306834BCKDHAc.289-16G>A (n.289-16G>A)
c.223-16G>A (n.223-16G>A)
n.399G>A
c.391-16G>A (n.391-16G>A)
c.96-16G>A
c.288+91G>A (n.288+91G>A)
 gnomAD v4
19g.41410908T>CCA9461075BCKDHAc.289-15T>C (n.289-15T>C)
c.223-15T>C (n.223-15T>C)
n.400T>C
c.391-15T>C (n.391-15T>C)
c.96-15T>C
c.288+92T>C (n.288+92T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410908T=CA2336453901BCKDHAc.289-15T= (n.289-15T=)
c.223-15T= (n.223-15T=)
n.400T=
c.391-15T= (n.391-15T=)
c.96-15T=
c.288+92T= (n.288+92T=)
19g.41410911C=CA2336453902BCKDHAc.289-12C= (n.289-12C=)
c.223-12C= (n.223-12C=)
n.403C=
c.391-12C= (n.391-12C=)
c.96-12C=
c.288+95C= (n.288+95C=)
19g.41410911C>TCA308515673BCKDHAc.289-12C>T (n.289-12C>T)
c.223-12C>T (n.223-12C>T)
n.403C>T
c.391-12C>T (n.391-12C>T)
c.96-12C>T
c.288+95C>T (n.288+95C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410912T>CCA2585306835BCKDHAc.289-11T>C (n.289-11T>C)
c.223-11T>C (n.223-11T>C)
n.404T>C
c.391-11T>C (n.391-11T>C)
c.96-11T>C
c.288+96T>C (n.288+96T>C)
 gnomAD v4
19g.41410913C>TCA2573156387BCKDHAc.289-10C>T (n.289-10C>T)
c.223-10C>T (n.223-10C>T)
n.405C>T
c.391-10C>T (n.391-10C>T)
c.96-10C>T
c.288+97C>T (n.288+97C>T)
 ClinVar dbSNP
19g.41410914C=CA2336453903BCKDHAc.289-9C= (n.289-9C=)
c.223-9C= (n.223-9C=)
n.406C=
c.391-9C= (n.391-9C=)
c.96-9C=
c.288+98C= (n.288+98C=)
19g.41410914C>TCA2336453904BCKDHAc.289-9C>T (n.289-9C>T)
c.223-9C>T (n.223-9C>T)
n.406C>T
c.391-9C>T (n.391-9C>T)
c.96-9C>T
c.288+98C>T (n.288+98C>T)
 dbSNP gnomAD v4
19g.41410915A=CA2336453905BCKDHAc.289-8A= (n.289-8A=)
c.223-8A= (n.223-8A=)
n.407A=
c.391-8A= (n.391-8A=)
c.96-8A=
c.288+99A= (n.288+99A=)
19g.41410915A>CCA2336453906BCKDHAc.289-8A>C (n.289-8A>C)
c.223-8A>C (n.223-8A>C)
n.407A>C
c.391-8A>C (n.391-8A>C)
c.96-8A>C
c.288+99A>C (n.288+99A>C)
 ClinVar dbSNP
19g.41410916C>ACA2739276852BCKDHAc.289-7C>A (n.289-7C>A)
c.223-7C>A (n.223-7C>A)
n.408C>A
c.391-7C>A (n.391-7C>A)
c.96-7C>A
c.288+100C>A (n.288+100C>A)
 ClinVar
19g.41410916C=CA2336453907BCKDHAc.289-7C= (n.289-7C=)
c.223-7C= (n.223-7C=)
n.408C=
c.391-7C= (n.391-7C=)
c.96-7C=
c.288+100C= (n.288+100C=)
19g.41410916C>TCA633165035BCKDHAc.289-7C>T (n.289-7C>T)
c.223-7C>T (n.223-7C>T)
n.408C>T
c.391-7C>T (n.391-7C>T)
c.96-7C>T
c.288+100C>T (n.288+100C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41410917C>ACA2585306836BCKDHAc.289-6C>A (n.289-6C>A)
c.223-6C>A (n.223-6C>A)
n.409C>A
c.391-6C>A (n.391-6C>A)
c.96-6C>A
c.288+101C>A (n.288+101C>A)
 gnomAD v4
19g.41410917C=CA2336453908BCKDHAc.289-6C= (n.289-6C=)
c.223-6C= (n.223-6C=)
n.409C=
c.391-6C= (n.391-6C=)
c.96-6C=
c.288+101C= (n.288+101C=)
19g.41410917C>GCA633165036BCKDHAc.289-6C>G (n.289-6C>G)
c.223-6C>G (n.223-6C>G)
n.409C>G
c.391-6C>G (n.391-6C>G)
c.96-6C>G
c.288+101C>G (n.288+101C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41410917C>TCA2585306837BCKDHAc.289-6C>T (n.289-6C>T)
c.223-6C>T (n.223-6C>T)
n.409C>T
c.391-6C>T (n.391-6C>T)
c.96-6C>T
c.288+101C>T (n.288+101C>T)
 dbSNP gnomAD v4
19g.41410918C=CA2336453909BCKDHAc.289-5C= (n.289-5C=)
c.223-5C= (n.223-5C=)
n.410C=
c.391-5C= (n.391-5C=)
c.96-5C=
c.288+102C= (n.288+102C=)
19g.41410918C>TCA9461076BCKDHAc.289-5C>T (n.289-5C>T)
c.223-5C>T (n.223-5C>T)
n.410C>T
c.391-5C>T (n.391-5C>T)
c.96-5C>T
c.288+102C>T (n.288+102C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G>ACA9461078BCKDHAc.289-4G>A (n.289-4G>A)
c.223-4G>A (n.223-4G>A)
n.411G>A
c.391-4G>A (n.391-4G>A)
c.96-4G>A
c.288+103G>A (n.288+103G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G>CCA9461077BCKDHAc.289-4G>C (n.289-4G>C)
c.223-4G>C (n.223-4G>C)
n.411G>C
c.391-4G>C (n.391-4G>C)
c.96-4G>C
c.288+103G>C (n.288+103G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410919G=CA2336453910BCKDHAc.289-4G= (n.289-4G=)
c.223-4G= (n.223-4G=)
n.411G=
c.391-4G= (n.391-4G=)
c.96-4G=
c.288+103G= (n.288+103G=)
19g.41410919G>TCA2585306838BCKDHAc.289-4G>T (n.289-4G>T)
c.223-4G>T (n.223-4G>T)
n.411G>T
c.391-4G>T (n.391-4G>T)
c.96-4G>T
c.288+103G>T (n.288+103G>T)
 gnomAD v4
19g.41410921A>CCA406005235BCKDHAc.289-2A>C (n.289-2A>C)
c.223-2A>C (n.223-2A>C)
n.413A>C
c.391-2A>C (n.391-2A>C)
c.96-2A>C
c.288+105A>C (n.288+105A>C)
19g.41410921A>GCA406005229BCKDHAc.289-2A>G (n.289-2A>G)
c.223-2A>G (n.223-2A>G)
n.413A>G
c.391-2A>G (n.391-2A>G)
c.96-2A>G
c.288+105A>G (n.288+105A>G)
19g.41410921A>TCA406005232BCKDHAc.289-2A>T (n.289-2A>T)
c.223-2A>T (n.223-2A>T)
n.413A>T
c.391-2A>T (n.391-2A>T)
c.96-2A>T
c.288+105A>T (n.288+105A>T)
19g.41410922G>ACA9461079BCKDHAc.289-1G>A (n.289-1G>A)
c.223-1G>A (n.223-1G>A)
n.414G>A
c.391-1G>A (n.391-1G>A)
c.96-1G>A
c.288+106G>A (n.288+106G>A)
 dbSNP ExAC gnomAD v2
19g.41410922G>CCA406005239BCKDHAc.289-1G>C (n.289-1G>C)
c.223-1G>C (n.223-1G>C)
n.414G>C
c.391-1G>C (n.391-1G>C)
c.96-1G>C
c.288+106G>C (n.288+106G>C)
19g.41410922G=CA2336453911BCKDHAc.289-1G= (n.289-1G=)
c.223-1G= (n.223-1G=)
n.414G=
c.391-1G= (n.391-1G=)
c.96-1G=
c.288+106G= (n.288+106G=)
19g.41410922G>TCA406005242BCKDHAc.289-1G>T (n.289-1G>T)
c.223-1G>T (n.223-1G>T)
n.414G>T
c.391-1G>T (n.391-1G>T)
c.96-1G>T
c.288+106G>T (n.288+106G>T)
19g.41410923C>ACA406005245BCKDHAc.289C>A (p.Leu97Met)
c.223C>A (p.Leu75Met)
n.415C>A
c.391C>A (p.Leu131Met)
c.96C>A
c.288+107C>A (n.288+107C>A)
19g.41410923C>GCA406005247BCKDHAc.289C>G (p.Leu97Val)
c.223C>G (p.Leu75Val)
n.415C>G
c.391C>G (p.Leu131Val)
c.96C>G
c.288+107C>G (n.288+107C>G)
19g.41410923C>TCA507555623BCKDHAc.289C>T (p.Leu97=)
c.223C>T (p.Leu75=)
n.415C>T
c.391C>T (p.Leu131=)
c.96C>T
c.288+107C>T (n.288+107C>T)
19g.41410924T>ACA406005251BCKDHAc.290T>A (p.Leu97Gln)
c.224T>A (p.Leu75Gln)
n.416T>A
c.392T>A (p.Leu131Gln)
c.97T>A
c.288+108T>A (n.288+108T>A)
 gnomAD v4
19g.41410924T>CCA406005257BCKDHAc.290T>C (p.Leu97Pro)
c.224T>C (p.Leu75Pro)
n.416T>C
c.392T>C (p.Leu131Pro)
c.97T>C
c.288+108T>C (n.288+108T>C)
19g.41410924T>GCA406005254BCKDHAc.290T>G (p.Leu97Arg)
c.224T>G (p.Leu75Arg)
n.416T>G
c.392T>G (p.Leu131Arg)
c.97T>G
c.288+108T>G (n.288+108T>G)
19g.41410925G>ACA507555626BCKDHAc.291G>A (p.Leu97=)
c.225G>A (p.Leu75=)
n.417G>A
c.393G>A (p.Leu131=)
c.98G>A
c.288+109G>A (n.288+109G>A)
 ClinVar
19g.41410925G>CCA308515686BCKDHAc.291G>C (p.Leu97=)
c.225G>C (p.Leu75=)
n.417G>C
c.393G>C (p.Leu131=)
c.98G>C
c.288+109G>C (n.288+109G>C)
19g.41410925G>TCA507555625BCKDHAc.291G>T (p.Leu97=)
c.225G>T (p.Leu75=)
n.417G>T
c.393G>T (p.Leu131=)
c.98G>T
c.288+109G>T (n.288+109G>T)
19g.41410926C>ACA406005263BCKDHAc.292C>A (p.Pro98Thr)
c.226C>A (p.Pro76Thr)
n.418C>A
c.394C>A (p.Pro132Thr)
c.99C>A
c.288+110C>A (n.288+110C>A)
19g.41410926C>GCA406005264BCKDHAc.292C>G (p.Pro98Ala)
c.226C>G (p.Pro76Ala)
n.418C>G
c.394C>G (p.Pro132Ala)
c.99C>G
c.288+110C>G (n.288+110C>G)
19g.41410926C>TCA406005265BCKDHAc.292C>T (p.Pro98Ser)
c.226C>T (p.Pro76Ser)
n.418C>T
c.394C>T (p.Pro132Ser)
c.99C>T
c.288+110C>T (n.288+110C>T)
 gnomAD v4
19g.41410926_41410927delCA2580097285BCKDHAc.292_293del (p.Pro98GlufsTer15)
c.226_227del (p.Pro76GlufsTer15)
n.418_419del
c.394_395del (p.Pro132GlufsTer15)
c.99_100del
c.288+110_288+111del (n.288+110_288+111del)
 ClinVar
19g.41410927C>ACA406005267BCKDHAc.293C>A (p.Pro98Gln)
c.227C>A (p.Pro76Gln)
n.419C>A
c.395C>A (p.Pro132Gln)
c.100C>A
c.288+111C>A (n.288+111C>A)
19g.41410927C=CA2336453912BCKDHAc.293C= (p.Pro98=)
c.227C= (p.Pro76=)
n.419C=
c.395C= (p.Pro132=)
c.100C=
c.288+111C= (n.288+111C=)
19g.41410927C>GCA406005268BCKDHAc.293C>G (p.Pro98Arg)
c.227C>G (p.Pro76Arg)
n.419C>G
c.395C>G (p.Pro132Arg)
c.100C>G
c.288+111C>G (n.288+111C>G)
 gnomAD v4
19g.41410927C>TCA9461080BCKDHAc.293C>T (p.Pro98Leu)
c.227C>T (p.Pro76Leu)
n.419C>T
c.395C>T (p.Pro132Leu)
c.100C>T
c.288+111C>T (n.288+111C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410928G>ACA9461081BCKDHAc.294G>A (p.Pro98=)
c.228G>A (p.Pro76=)
n.420G>A
c.396G>A (p.Pro132=)
c.101G>A
c.288+112G>A (n.288+112G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410928G>CCA507555628BCKDHAc.294G>C (p.Pro98=)
c.228G>C (p.Pro76=)
n.420G>C
c.396G>C (p.Pro132=)
c.101G>C
c.288+112G>C (n.288+112G>C)
 ClinVar dbSNP gnomAD v4
19g.41410928G=CA2336453913BCKDHAc.294G= (p.Pro98=)
c.228G= (p.Pro76=)
n.420G=
c.396G= (p.Pro132=)
c.101G=
c.288+112G= (n.288+112G=)
19g.41410928G>TCA507555627BCKDHAc.294G>T (p.Pro98=)
c.228G>T (p.Pro76=)
n.420G>T
c.396G>T (p.Pro132=)
c.101G>T
c.288+112G>T (n.288+112G>T)
19g.41410929A>CCA406005274BCKDHAc.295A>C (p.Lys99Gln)
c.229A>C (p.Lys77Gln)
n.421A>C
c.397A>C (p.Lys133Gln)
c.102A>C
c.288+113A>C (n.288+113A>C)
19g.41410929A>GCA406005275BCKDHAc.295A>G (p.Lys99Glu)
c.229A>G (p.Lys77Glu)
n.421A>G
c.397A>G (p.Lys133Glu)
c.102A>G
c.288+113A>G (n.288+113A>G)
 gnomAD v4
19g.41410929A>TCA406005277BCKDHAc.295A>T (p.Lys99Ter)
c.229A>T (p.Lys77Ter)
n.421A>T
c.397A>T (p.Lys133Ter)
c.102A>T
c.288+113A>T (n.288+113A>T)
19g.41410930A>CCA406005286BCKDHAc.296A>C (p.Lys99Thr)
c.230A>C (p.Lys77Thr)
n.422A>C
c.398A>C (p.Lys133Thr)
c.103A>C
c.288+114A>C (n.288+114A>C)
19g.41410930A>GCA406005282BCKDHAc.296A>G (p.Lys99Arg)
c.230A>G (p.Lys77Arg)
n.422A>G
c.398A>G (p.Lys133Arg)
c.103A>G
c.288+114A>G (n.288+114A>G)
19g.41410930A>TCA406005281BCKDHAc.296A>T (p.Lys99Met)
c.230A>T (p.Lys77Met)
n.422A>T
c.398A>T (p.Lys133Met)
c.103A>T
c.288+114A>T (n.288+114A>T)
19g.41410931G>ACA507555630BCKDHAc.297G>A (p.Lys99=)
c.231G>A (p.Lys77=)
n.423G>A
c.399G>A (p.Lys133=)
c.104G>A
c.288+115G>A (n.288+115G>A)
19g.41410931G>CCA406005293BCKDHAc.297G>C (p.Lys99Asn)
c.231G>C (p.Lys77Asn)
n.423G>C
c.399G>C (p.Lys133Asn)
c.104G>C
c.288+115G>C (n.288+115G>C)
19g.41410931G=CA2336453914BCKDHAc.297G= (p.Lys99=)
c.231G= (p.Lys77=)
n.423G=
c.399G= (p.Lys133=)
c.104G=
c.288+115G= (n.288+115G=)
19g.41410931G>TCA406005289BCKDHAc.297G>T (p.Lys99Asn)
c.231G>T (p.Lys77Asn)
n.423G>T
c.399G>T (p.Lys133Asn)
c.104G>T
c.288+115G>T (n.288+115G>T)
 ClinVar dbSNP
19g.41410932G>ACA406005306BCKDHAc.298G>A (p.Glu100Lys)
c.232G>A (p.Glu78Lys)
n.424G>A
c.400G>A (p.Glu134Lys)
c.105G>A
c.288+116G>A (n.288+116G>A)
 gnomAD v4
19g.41410932G>CCA406005307BCKDHAc.298G>C (p.Glu100Gln)
c.232G>C (p.Glu78Gln)
n.424G>C
c.400G>C (p.Glu134Gln)
c.105G>C
c.288+116G>C (n.288+116G>C)
19g.41410932G>TCA406005308BCKDHAc.298G>T (p.Glu100Ter)
c.232G>T (p.Glu78Ter)
n.424G>T
c.400G>T (p.Glu134Ter)
c.105G>T
c.288+116G>T (n.288+116G>T)
19g.41410933A=CA2336453915BCKDHAc.299A= (p.Glu100=)
c.233A= (p.Glu78=)
n.425A=
c.401A= (p.Glu134=)
c.106A=
c.288+117A= (n.288+117A=)
19g.41410933A>CCA406005311BCKDHAc.299A>C (p.Glu100Ala)
c.233A>C (p.Glu78Ala)
n.425A>C
c.401A>C (p.Glu134Ala)
c.106A>C
c.288+117A>C (n.288+117A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41410933A>GCA406005313BCKDHAc.299A>G (p.Glu100Gly)
c.233A>G (p.Glu78Gly)
n.425A>G
c.401A>G (p.Glu134Gly)
c.106A>G
c.288+117A>G (n.288+117A>G)
19g.41410933A>TCA406005320BCKDHAc.299A>T (p.Glu100Val)
c.233A>T (p.Glu78Val)
n.425A>T
c.401A>T (p.Glu134Val)
c.106A>T
c.288+117A>T (n.288+117A>T)
19g.41410934G>ACA507555632BCKDHAc.300G>A (p.Glu100=)
c.234G>A (p.Glu78=)
n.426G>A
c.402G>A (p.Glu134=)
c.107G>A
c.288+118G>A (n.288+118G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41410934G>CCA406005326BCKDHAc.300G>C (p.Glu100Asp)
c.234G>C (p.Glu78Asp)
n.426G>C
c.402G>C (p.Glu134Asp)
c.107G>C
c.288+118G>C (n.288+118G>C)
19g.41410934G=CA2336453916BCKDHAc.300G= (p.Glu100=)
c.234G= (p.Glu78=)
n.426G=
c.402G= (p.Glu134=)
c.107G=
c.288+118G= (n.288+118G=)
19g.41410934G>TCA406005331BCKDHAc.300G>T (p.Glu100Asp)
c.234G>T (p.Glu78Asp)
n.426G>T
c.402G>T (p.Glu134Asp)
c.107G>T
c.288+118G>T (n.288+118G>T)
19g.41410935A>CCA406005340BCKDHAc.301A>C (p.Lys101Gln)
c.235A>C (p.Lys79Gln)
n.427A>C
c.403A>C (p.Lys135Gln)
c.108A>C
c.288+119A>C (n.288+119A>C)
19g.41410935A>GCA406005351BCKDHAc.301A>G (p.Lys101Glu)
c.235A>G (p.Lys79Glu)
n.427A>G
c.403A>G (p.Lys135Glu)
c.108A>G
c.288+119A>G (n.288+119A>G)
 gnomAD v4
19g.41410935A>TCA406005372BCKDHAc.301A>T (p.Lys101Ter)
c.235A>T (p.Lys79Ter)
n.427A>T
c.403A>T (p.Lys135Ter)
c.108A>T
c.288+119A>T (n.288+119A>T)
19g.41410936A>CCA406005381BCKDHAc.302A>C (p.Lys101Thr)
c.236A>C (p.Lys79Thr)
n.428A>C
c.404A>C (p.Lys135Thr)
c.109A>C
c.288+120A>C (n.288+120A>C)
19g.41410936A>GCA406005385BCKDHAc.302A>G (p.Lys101Arg)
c.236A>G (p.Lys79Arg)
n.428A>G
c.404A>G (p.Lys135Arg)
c.109A>G
c.288+120A>G (n.288+120A>G)
19g.41410936A>TCA406005378BCKDHAc.302A>T (p.Lys101Met)
c.236A>T (p.Lys79Met)
n.428A>T
c.404A>T (p.Lys135Met)
c.109A>T
c.288+120A>T (n.288+120A>T)
19g.41410937G>ACA507555634BCKDHAc.303G>A (p.Lys101=)
c.237G>A (p.Lys79=)
n.429G>A
c.405G>A (p.Lys135=)
c.110G>A
c.288+121G>A (n.288+121G>A)
19g.41410937G>CCA406005390BCKDHAc.303G>C (p.Lys101Asn)
c.237G>C (p.Lys79Asn)
n.429G>C
c.405G>C (p.Lys135Asn)
c.110G>C
c.288+121G>C (n.288+121G>C)
 ClinVar gnomAD v4
19g.41410937G>TCA406005392BCKDHAc.303G>T (p.Lys101Asn)
c.237G>T (p.Lys79Asn)
n.429G>T
c.405G>T (p.Lys135Asn)
c.110G>T
c.288+121G>T (n.288+121G>T)
19g.41410938G>ACA406005399BCKDHAc.304G>A (p.Val102Met)
c.238G>A (p.Val80Met)
n.430G>A
c.406G>A (p.Val136Met)
c.111G>A
c.288+122G>A (n.288+122G>A)
 dbSNP
19g.41410938G>CCA406005400BCKDHAc.304G>C (p.Val102Leu)
c.238G>C (p.Val80Leu)
n.430G>C
c.406G>C (p.Val136Leu)
c.111G>C
c.288+122G>C (n.288+122G>C)
19g.41410938G=CA2336453917BCKDHAc.304G= (p.Val102=)
c.238G= (p.Val80=)
n.430G=
c.406G= (p.Val136=)
c.111G=
c.288+122G= (n.288+122G=)
19g.41410938G>TCA308515701BCKDHAc.304G>T (p.Val102Leu)
c.238G>T (p.Val80Leu)
n.430G>T
c.406G>T (p.Val136Leu)
c.111G>T
c.288+122G>T (n.288+122G>T)
 dbSNP
19g.41410939T>ACA406005411BCKDHAc.305T>A (p.Val102Glu)
c.239T>A (p.Val80Glu)
n.431T>A
c.407T>A (p.Val136Glu)
c.112T>A
c.288+123T>A (n.288+123T>A)
19g.41410939T>CCA406005404BCKDHAc.305T>C (p.Val102Ala)
c.239T>C (p.Val80Ala)
n.431T>C
c.407T>C (p.Val136Ala)
c.112T>C
c.288+123T>C (n.288+123T>C)
 dbSNP
19g.41410939T>GCA406005407BCKDHAc.305T>G (p.Val102Gly)
c.239T>G (p.Val80Gly)
n.431T>G
c.407T>G (p.Val136Gly)
c.112T>G
c.288+123T>G (n.288+123T>G)
19g.41410939T=CA2336453918BCKDHAc.305T= (p.Val102=)
c.239T= (p.Val80=)
n.431T=
c.407T= (p.Val136=)
c.112T=
c.288+123T= (n.288+123T=)
19g.41410940G>ACA9461082BCKDHAc.306G>A (p.Val102=)
c.240G>A (p.Val80=)
n.432G>A
c.408G>A (p.Val136=)
c.113G>A
c.288+124G>A (n.288+124G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410940G>CCA507555637BCKDHAc.306G>C (p.Val102=)
c.240G>C (p.Val80=)
n.432G>C
c.408G>C (p.Val136=)
c.113G>C
c.288+124G>C (n.288+124G>C)
19g.41410940G=CA2336453919BCKDHAc.306G= (p.Val102=)
c.240G= (p.Val80=)
n.432G=
c.408G= (p.Val136=)
c.113G=
c.288+124G= (n.288+124G=)
19g.41410940G>TCA507555638BCKDHAc.306G>T (p.Val102=)
c.240G>T (p.Val80=)
n.432G>T
c.408G>T (p.Val136=)
c.113G>T
c.288+124G>T (n.288+124G>T)
19g.41410941C>ACA406005426BCKDHAc.307C>A (p.Leu103Met)
c.241C>A (p.Leu81Met)
n.433C>A
c.409C>A (p.Leu137Met)
c.114C>A
c.288+125C>A (n.288+125C>A)
19g.41410941C>GCA406005433BCKDHAc.307C>G (p.Leu103Val)
c.241C>G (p.Leu81Val)
n.433C>G
c.409C>G (p.Leu137Val)
c.114C>G
c.288+125C>G (n.288+125C>G)
19g.41410941C>TCA507555640BCKDHAc.307C>T (p.Leu103=)
c.241C>T (p.Leu81=)
n.433C>T
c.409C>T (p.Leu137=)
c.114C>T
c.288+125C>T (n.288+125C>T)
19g.41410942T>ACA406005436BCKDHAc.308T>A (p.Leu103Gln)
c.242T>A (p.Leu81Gln)
n.434T>A
c.410T>A (p.Leu137Gln)
c.115T>A
c.288+126T>A (n.288+126T>A)
19g.41410942T>CCA406005439BCKDHAc.308T>C (p.Leu103Pro)
c.242T>C (p.Leu81Pro)
n.434T>C
c.410T>C (p.Leu137Pro)
c.115T>C
c.288+126T>C (n.288+126T>C)
 ClinVar
19g.41410942T>GCA406005441BCKDHAc.308T>G (p.Leu103Arg)
c.242T>G (p.Leu81Arg)
n.434T>G
c.410T>G (p.Leu137Arg)
c.115T>G
c.288+126T>G (n.288+126T>G)
19g.41410943G>ACA507555643BCKDHAc.309G>A (p.Leu103=)
c.243G>A (p.Leu81=)
n.435G>A
c.411G>A (p.Leu137=)
c.116G>A
c.288+127G>A (n.288+127G>A)
 ClinVar dbSNP
19g.41410943G>CCA507555642BCKDHAc.309G>C (p.Leu103=)
c.243G>C (p.Leu81=)
n.435G>C
c.411G>C (p.Leu137=)
c.116G>C
c.288+127G>C (n.288+127G>C)
19g.41410943G=CA2336453920BCKDHAc.309G= (p.Leu103=)
c.243G= (p.Leu81=)
n.435G=
c.411G= (p.Leu137=)
c.116G=
c.288+127G= (n.288+127G=)
19g.41410943G>TCA507555641BCKDHAc.309G>T (p.Leu103=)
c.243G>T (p.Leu81=)
n.435G>T
c.411G>T (p.Leu137=)
c.116G>T
c.288+127G>T (n.288+127G>T)
19g.41410944A>CCA406005449BCKDHAc.310A>C (p.Lys104Gln)
c.244A>C (p.Lys82Gln)
n.436A>C
c.412A>C (p.Lys138Gln)
c.117A>C
c.288+128A>C (n.288+128A>C)
19g.41410944A>GCA406005453BCKDHAc.310A>G (p.Lys104Glu)
c.244A>G (p.Lys82Glu)
n.436A>G
c.412A>G (p.Lys138Glu)
c.117A>G
c.288+128A>G (n.288+128A>G)
19g.41410944A>TCA406005446BCKDHAc.310A>T (p.Lys104Ter)
c.244A>T (p.Lys82Ter)
n.436A>T
c.412A>T (p.Lys138Ter)
c.117A>T
c.288+128A>T (n.288+128A>T)
19g.41410945A>CCA406005454BCKDHAc.311A>C (p.Lys104Thr)
c.245A>C (p.Lys82Thr)
n.437A>C
c.413A>C (p.Lys138Thr)
c.118A>C
c.288+129A>C (n.288+129A>C)
19g.41410945A>GCA406005455BCKDHAc.311A>G (p.Lys104Arg)
c.245A>G (p.Lys82Arg)
n.437A>G
c.413A>G (p.Lys138Arg)
c.118A>G
c.288+129A>G (n.288+129A>G)
19g.41410945A>TCA406005459BCKDHAc.311A>T (p.Lys104Met)
c.245A>T (p.Lys82Met)
n.437A>T
c.413A>T (p.Lys138Met)
c.118A>T
c.288+129A>T (n.288+129A>T)
19g.41410946G>ACA507555644BCKDHAc.312G>A (p.Lys104=)
c.246G>A (p.Lys82=)
n.438G>A
c.414G>A (p.Lys138=)
c.119G>A
c.288+130G>A (n.288+130G>A)
 dbSNP
19g.41410946G>CCA406005464BCKDHAc.312G>C (p.Lys104Asn)
c.246G>C (p.Lys82Asn)
n.438G>C
c.414G>C (p.Lys138Asn)
c.119G>C
c.288+130G>C (n.288+130G>C)
19g.41410946G=CA2336453921BCKDHAc.312G= (p.Lys104=)
c.246G= (p.Lys82=)
n.438G=
c.414G= (p.Lys138=)
c.119G=
c.288+130G= (n.288+130G=)
19g.41410946G>TCA406005466BCKDHAc.312G>T (p.Lys104Asn)
c.246G>T (p.Lys82Asn)
n.438G>T
c.414G>T (p.Lys138Asn)
c.119G>T
c.288+130G>T (n.288+130G>T)
19g.41410947C>ACA406005479BCKDHAc.313C>A (p.Leu105Ile)
c.247C>A (p.Leu83Ile)
n.439C>A
c.415C>A (p.Leu139Ile)
c.120C>A
c.288+131C>A (n.288+131C>A)
19g.41410947C=CA2336453922BCKDHAc.313C= (p.Leu105=)
c.247C= (p.Leu83=)
n.439C=
c.415C= (p.Leu139=)
c.120C=
c.288+131C= (n.288+131C=)
19g.41410947C>GCA406005472BCKDHAc.313C>G (p.Leu105Val)
c.247C>G (p.Leu83Val)
n.439C>G
c.415C>G (p.Leu139Val)
c.120C>G
c.288+131C>G (n.288+131C>G)
19g.41410947C>TCA9461083BCKDHAc.313C>T (p.Leu105Phe)
c.247C>T (p.Leu83Phe)
n.439C>T
c.415C>T (p.Leu139Phe)
c.120C>T
c.288+131C>T (n.288+131C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410948T>ACA406005484BCKDHAc.314T>A (p.Leu105His)
c.248T>A (p.Leu83His)
n.440T>A
c.416T>A (p.Leu139His)
c.121T>A
c.288+132T>A (n.288+132T>A)
19g.41410948T>CCA406005485BCKDHAc.314T>C (p.Leu105Pro)
c.248T>C (p.Leu83Pro)
n.440T>C
c.416T>C (p.Leu139Pro)
c.121T>C
c.288+132T>C (n.288+132T>C)
19g.41410948T>GCA406005487BCKDHAc.314T>G (p.Leu105Arg)
c.248T>G (p.Leu83Arg)
n.440T>G
c.416T>G (p.Leu139Arg)
c.121T>G
c.288+132T>G (n.288+132T>G)
19g.41410949C>ACA507555647BCKDHAc.315C>A (p.Leu105=)
c.249C>A (p.Leu83=)
n.441C>A
c.417C>A (p.Leu139=)
c.122C>A
c.288+133C>A (n.288+133C>A)
19g.41410949C>GCA507555646BCKDHAc.315C>G (p.Leu105=)
c.249C>G (p.Leu83=)
n.441C>G
c.417C>G (p.Leu139=)
c.122C>G
c.288+133C>G (n.288+133C>G)
19g.41410949C>TCA507555645BCKDHAc.315C>T (p.Leu105=)
c.249C>T (p.Leu83=)
n.441C>T
c.417C>T (p.Leu139=)
c.122C>T
c.288+133C>T (n.288+133C>T)
 ClinVar
19g.41410950T>ACA406005490BCKDHAc.316T>A (p.Tyr106Asn)
c.250T>A (p.Tyr84Asn)
n.442T>A
c.418T>A (p.Tyr140Asn)
c.123T>A
c.288+134T>A (n.288+134T>A)
19g.41410950T>CCA406005504BCKDHAc.316T>C (p.Tyr106His)
c.250T>C (p.Tyr84His)
n.442T>C
c.418T>C (p.Tyr140His)
c.123T>C
c.288+134T>C (n.288+134T>C)
19g.41410950T>GCA406005507BCKDHAc.316T>G (p.Tyr106Asp)
c.250T>G (p.Tyr84Asp)
n.442T>G
c.418T>G (p.Tyr140Asp)
c.123T>G
c.288+134T>G (n.288+134T>G)
19g.41410951A>CCA406005521BCKDHAc.317A>C (p.Tyr106Ser)
c.251A>C (p.Tyr84Ser)
n.443A>C
c.419A>C (p.Tyr140Ser)
c.124A>C
c.288+135A>C (n.288+135A>C)
19g.41410951A>GCA406005513BCKDHAc.317A>G (p.Tyr106Cys)
c.251A>G (p.Tyr84Cys)
n.443A>G
c.419A>G (p.Tyr140Cys)
c.124A>G
c.288+135A>G (n.288+135A>G)
 gnomAD v4 COSMIC
19g.41410951A>TCA406005517BCKDHAc.317A>T (p.Tyr106Phe)
c.251A>T (p.Tyr84Phe)
n.443A>T
c.419A>T (p.Tyr140Phe)
c.124A>T
c.288+135A>T (n.288+135A>T)
19g.41410952C>ACA406005527BCKDHAc.318C>A (p.Tyr106Ter)
c.252C>A (p.Tyr84Ter)
n.444C>A
c.420C>A (p.Tyr140Ter)
c.125C>A
c.288+136C>A (n.288+136C>A)
 ClinVar
19g.41410952C>GCA406005532BCKDHAc.318C>G (p.Tyr106Ter)
c.252C>G (p.Tyr84Ter)
n.444C>G
c.420C>G (p.Tyr140Ter)
c.125C>G
c.288+136C>G (n.288+136C>G)
 ClinVar
19g.41410952C>TCA507555649BCKDHAc.318C>T (p.Tyr106=)
c.252C>T (p.Tyr84=)
n.444C>T
c.420C>T (p.Tyr140=)
c.125C>T
c.288+136C>T (n.288+136C>T)
 ClinVar
19g.41410953A=CA2336453923BCKDHAc.319A= (p.Lys107=)
c.253A= (p.Lys85=)
n.445A=
c.421A= (p.Lys141=)
c.126A=
c.288+137A= (n.288+137A=)
19g.41410953A>CCA406005537BCKDHAc.319A>C (p.Lys107Gln)
c.253A>C (p.Lys85Gln)
n.445A>C
c.421A>C (p.Lys141Gln)
c.126A>C
c.288+137A>C (n.288+137A>C)
19g.41410953A>GCA9461084BCKDHAc.319A>G (p.Lys107Glu)
c.253A>G (p.Lys85Glu)
n.445A>G
c.421A>G (p.Lys141Glu)
c.126A>G
c.288+137A>G (n.288+137A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410953A>TCA406005545BCKDHAc.319A>T (p.Lys107Ter)
c.253A>T (p.Lys85Ter)
n.445A>T
c.421A>T (p.Lys141Ter)
c.126A>T
c.288+137A>T (n.288+137A>T)
 ClinVar
19g.41410954A>CCA406005549BCKDHAc.320A>C (p.Lys107Thr)
c.254A>C (p.Lys85Thr)
n.446A>C
c.422A>C (p.Lys141Thr)
c.127A>C
c.288+138A>C (n.288+138A>C)
19g.41410954A>GCA406005554BCKDHAc.320A>G (p.Lys107Arg)
c.254A>G (p.Lys85Arg)
n.446A>G
c.422A>G (p.Lys141Arg)
c.127A>G
c.288+138A>G (n.288+138A>G)
19g.41410954A>TCA406005558BCKDHAc.320A>T (p.Lys107Met)
c.254A>T (p.Lys85Met)
n.446A>T
c.422A>T (p.Lys141Met)
c.127A>T
c.288+138A>T (n.288+138A>T)
19g.41410955G>ACA507555651BCKDHAc.321G>A (p.Lys107=)
c.255G>A (p.Lys85=)
n.447G>A
c.423G>A (p.Lys141=)
c.128G>A
c.288+139G>A (n.288+139G>A)
19g.41410955G>CCA406005563BCKDHAc.321G>C (p.Lys107Asn)
c.255G>C (p.Lys85Asn)
n.447G>C
c.423G>C (p.Lys141Asn)
c.128G>C
c.288+139G>C (n.288+139G>C)
19g.41410955G>TCA406005568BCKDHAc.321G>T (p.Lys107Asn)
c.255G>T (p.Lys85Asn)
n.447G>T
c.423G>T (p.Lys141Asn)
c.128G>T
c.288+139G>T (n.288+139G>T)
19g.41410956A=CA2336453924BCKDHAc.322A= (p.Ser108=)
c.256A= (p.Ser86=)
n.448A=
c.424A= (p.Ser142=)
c.129A=
c.288+140A= (n.288+140A=)
19g.41410956A>CCA406005571BCKDHAc.322A>C (p.Ser108Arg)
c.256A>C (p.Ser86Arg)
n.448A>C
c.424A>C (p.Ser142Arg)
c.129A>C
c.288+140A>C (n.288+140A>C)
19g.41410956A>GCA9461085BCKDHAc.322A>G (p.Ser108Gly)
c.256A>G (p.Ser86Gly)
n.448A>G
c.424A>G (p.Ser142Gly)
c.129A>G
c.288+140A>G (n.288+140A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410956A>TCA406005576BCKDHAc.322A>T (p.Ser108Cys)
c.256A>T (p.Ser86Cys)
n.448A>T
c.424A>T (p.Ser142Cys)
c.129A>T
c.288+140A>T (n.288+140A>T)
19g.41410957G>ACA406005583BCKDHAc.323G>A (p.Ser108Asn)
c.257G>A (p.Ser86Asn)
n.449G>A
c.425G>A (p.Ser142Asn)
c.130G>A
c.288+141G>A (n.288+141G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41410957G>CCA406005592BCKDHAc.323G>C (p.Ser108Thr)
c.257G>C (p.Ser86Thr)
n.449G>C
c.425G>C (p.Ser142Thr)
c.130G>C
c.288+141G>C (n.288+141G>C)
19g.41410957G=CA2336453925BCKDHAc.323G= (p.Ser108=)
c.257G= (p.Ser86=)
n.449G=
c.425G= (p.Ser142=)
c.130G=
c.288+141G= (n.288+141G=)
19g.41410957G>TCA406005586BCKDHAc.323G>T (p.Ser108Ile)
c.257G>T (p.Ser86Ile)
n.449G>T
c.425G>T (p.Ser142Ile)
c.130G>T
c.288+141G>T (n.288+141G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41410958C>ACA406005605BCKDHAc.324C>A (p.Ser108Arg)
c.258C>A (p.Ser86Arg)
n.450C>A
c.426C>A (p.Ser142Arg)
c.131C>A
c.288+142C>A (n.288+142C>A)
19g.41410958C=CA2336453926BCKDHAc.324C= (p.Ser108=)
c.258C= (p.Ser86=)
n.450C=
c.426C= (p.Ser142=)
c.131C=
c.288+142C= (n.288+142C=)
19g.41410958C>GCA406005610BCKDHAc.324C>G (p.Ser108Arg)
c.258C>G (p.Ser86Arg)
n.450C>G
c.426C>G (p.Ser142Arg)
c.131C>G
c.288+142C>G (n.288+142C>G)
19g.41410958C>TCA9461086BCKDHAc.324C>T (p.Ser108=)
c.258C>T (p.Ser86=)
n.450C>T
c.426C>T (p.Ser142=)
c.131C>T
c.288+142C>T (n.288+142C>T)
 ClinVar dbSNP ExAC gnomAD v2
19g.41410959A=CA2336453927BCKDHAc.325A= (p.Met109=)
c.259A= (p.Met87=)
n.451A=
c.427A= (p.Met143=)
c.132A=
c.288+143A= (n.288+143A=)
19g.41410959A>CCA406005621BCKDHAc.325A>C (p.Met109Leu)
c.259A>C (p.Met87Leu)
n.451A>C
c.427A>C (p.Met143Leu)
c.132A>C
c.288+143A>C (n.288+143A>C)
19g.41410959A>GCA406005626BCKDHAc.325A>G (p.Met109Val)
c.259A>G (p.Met87Val)
n.451A>G
c.427A>G (p.Met143Val)
c.132A>G
c.288+143A>G (n.288+143A>G)
 dbSNP gnomAD v4
19g.41410959A>TCA406005630BCKDHAc.325A>T (p.Met109Leu)
c.259A>T (p.Met87Leu)
n.451A>T
c.427A>T (p.Met143Leu)
c.132A>T
c.288+143A>T (n.288+143A>T)
19g.41410960T>ACA9461087BCKDHAc.326T>A (p.Met109Lys)
c.260T>A (p.Met87Lys)
n.452T>A
c.428T>A (p.Met143Lys)
c.133T>A
c.288+144T>A (n.288+144T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410960T>CCA406005641BCKDHAc.326T>C (p.Met109Thr)
c.260T>C (p.Met87Thr)
n.452T>C
c.428T>C (p.Met143Thr)
c.133T>C
c.288+144T>C (n.288+144T>C)
19g.41410960T>GCA406005645BCKDHAc.326T>G (p.Met109Arg)
c.260T>G (p.Met87Arg)
n.452T>G
c.428T>G (p.Met143Arg)
c.133T>G
c.288+144T>G (n.288+144T>G)
19g.41410960T=CA2336453928BCKDHAc.326T= (p.Met109=)
c.260T= (p.Met87=)
n.452T=
c.428T= (p.Met143=)
c.133T=
c.288+144T= (n.288+144T=)
19g.41410961G>ACA406005646BCKDHAc.327G>A (p.Met109Ile)
c.261G>A (p.Met87Ile)
n.453G>A
c.429G>A (p.Met143Ile)
c.134G>A
c.288+145G>A (n.288+145G>A)
 COSMIC
19g.41410961G>CCA406005647BCKDHAc.327G>C (p.Met109Ile)
c.261G>C (p.Met87Ile)
n.453G>C
c.429G>C (p.Met143Ile)
c.134G>C
c.288+145G>C (n.288+145G>C)
19g.41410961G>TCA406005648BCKDHAc.327G>T (p.Met109Ile)
c.261G>T (p.Met87Ile)
n.453G>T
c.429G>T (p.Met143Ile)
c.134G>T
c.288+145G>T (n.288+145G>T)
 gnomAD v4
19g.41410962A=CA2336453929BCKDHAc.328A= (p.Thr110=)
c.262A= (p.Thr88=)
n.454A=
c.430A= (p.Thr144=)
c.135A=
c.288+146A= (n.288+146A=)
19g.41410962A>CCA406005654BCKDHAc.328A>C (p.Thr110Pro)
c.262A>C (p.Thr88Pro)
n.454A>C
c.430A>C (p.Thr144Pro)
c.135A>C
c.288+146A>C (n.288+146A>C)
19g.41410962A>GCA406005653BCKDHAc.328A>G (p.Thr110Ala)
c.262A>G (p.Thr88Ala)
n.454A>G
c.430A>G (p.Thr144Ala)
c.135A>G
c.288+146A>G (n.288+146A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.41410962A>TCA406005652BCKDHAc.328A>T (p.Thr110Ser)
c.262A>T (p.Thr88Ser)
n.454A>T
c.430A>T (p.Thr144Ser)
c.135A>T
c.288+146A>T (n.288+146A>T)
 gnomAD v4
19g.41410963C>ACA406005658BCKDHAc.329C>A (p.Thr110Lys)
c.263C>A (p.Thr88Lys)
n.455C>A
c.431C>A (p.Thr144Lys)
c.136C>A
c.288+147C>A (n.288+147C>A)
19g.41410963C=CA2336453930BCKDHAc.329C= (p.Thr110=)
c.263C= (p.Thr88=)
n.455C=
c.431C= (p.Thr144=)
c.136C=
c.288+147C= (n.288+147C=)
19g.41410963C>GCA406005660BCKDHAc.329C>G (p.Thr110Arg)
c.263C>G (p.Thr88Arg)
n.455C>G
c.431C>G (p.Thr144Arg)
c.136C>G
c.288+147C>G (n.288+147C>G)
19g.41410963C>TCA308515736BCKDHAc.329C>T (p.Thr110Ile)
c.263C>T (p.Thr88Ile)
n.455C>T
c.431C>T (p.Thr144Ile)
c.136C>T
c.288+147C>T (n.288+147C>T)
 dbSNP gnomAD v4
19g.41410964A=CA2336453931BCKDHAc.330A= (p.Thr110=)
c.264A= (p.Thr88=)
n.456A=
c.432A= (p.Thr144=)
c.137A=
c.288+148A= (n.288+148A=)
19g.41410964A>CCA507555652BCKDHAc.330A>C (p.Thr110=)
c.264A>C (p.Thr88=)
n.456A>C
c.432A>C (p.Thr144=)
c.137A>C
c.288+148A>C (n.288+148A>C)
19g.41410964A>GCA507555653BCKDHAc.330A>G (p.Thr110=)
c.264A>G (p.Thr88=)
n.456A>G
c.432A>G (p.Thr144=)
c.137A>G
c.288+148A>G (n.288+148A>G)
 ClinVar gnomAD v4
19g.41410964A>TCA9461088BCKDHAc.330A>T (p.Thr110=)
c.264A>T (p.Thr88=)
n.456A>T
c.432A>T (p.Thr144=)
c.137A>T
c.288+148A>T (n.288+148A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410965C>ACA406005672BCKDHAc.331C>A (p.Leu111Met)
c.265C>A (p.Leu89Met)
n.457C>A
c.433C>A (p.Leu145Met)
c.138C>A
c.288+149C>A (n.288+149C>A)
19g.41410965C=CA2336453932BCKDHAc.331C= (p.Leu111=)
c.265C= (p.Leu89=)
n.457C=
c.433C= (p.Leu145=)
c.138C=
c.288+149C= (n.288+149C=)
19g.41410965C>GCA406005674BCKDHAc.331C>G (p.Leu111Val)
c.265C>G (p.Leu89Val)
n.457C>G
c.433C>G (p.Leu145Val)
c.138C>G
c.288+149C>G (n.288+149C>G)
19g.41410965C>TCA507555654BCKDHAc.331C>T (p.Leu111=)
c.265C>T (p.Leu89=)
n.457C>T
c.433C>T (p.Leu145=)
c.138C>T
c.288+149C>T (n.288+149C>T)
 dbSNP gnomAD v4
19g.41410966T>ACA406005680BCKDHAc.332T>A (p.Leu111Gln)
c.266T>A (p.Leu89Gln)
n.458T>A
c.434T>A (p.Leu145Gln)
c.139T>A
c.288+150T>A (n.288+150T>A)
 gnomAD v4
19g.41410966T>CCA406005684BCKDHAc.332T>C (p.Leu111Pro)
c.266T>C (p.Leu89Pro)
n.458T>C
c.434T>C (p.Leu145Pro)
c.139T>C
c.288+150T>C (n.288+150T>C)
 ClinVar dbSNP gnomAD v4
19g.41410966T>GCA406005689BCKDHAc.332T>G (p.Leu111Arg)
c.266T>G (p.Leu89Arg)
n.458T>G
c.434T>G (p.Leu145Arg)
c.139T>G
c.288+150T>G (n.288+150T>G)
19g.41410966T=CA2336453933BCKDHAc.332T= (p.Leu111=)
c.266T= (p.Leu89=)
n.458T=
c.434T= (p.Leu145=)
c.139T=
c.288+150T= (n.288+150T=)
19g.41410967G>ACA507555655BCKDHAc.333G>A (p.Leu111=)
c.267G>A (p.Leu89=)
n.459G>A
c.435G>A (p.Leu145=)
c.140G>A
c.288+151G>A (n.288+151G>A)
19g.41410967G>CCA507555657BCKDHAc.333G>C (p.Leu111=)
c.267G>C (p.Leu89=)
n.459G>C
c.435G>C (p.Leu145=)
c.140G>C
c.288+151G>C (n.288+151G>C)
19g.41410967G>TCA507555656BCKDHAc.333G>T (p.Leu111=)
c.267G>T (p.Leu89=)
n.459G>T
c.435G>T (p.Leu145=)
c.140G>T
c.288+151G>T (n.288+151G>T)
19g.41410968C>ACA406005694BCKDHAc.334C>A (p.Leu112Ile)
c.268C>A (p.Leu90Ile)
n.460C>A
c.436C>A (p.Leu146Ile)
c.141C>A
c.288+152C>A (n.288+152C>A)
 dbSNP
19g.41410968C=CA2336453934BCKDHAc.334C= (p.Leu112=)
c.268C= (p.Leu90=)
n.460C=
c.436C= (p.Leu146=)
c.141C=
c.288+152C= (n.288+152C=)
19g.41410968C>GCA406005696BCKDHAc.334C>G (p.Leu112Val)
c.268C>G (p.Leu90Val)
n.460C>G
c.436C>G (p.Leu146Val)
c.141C>G
c.288+152C>G (n.288+152C>G)
19g.41410968C>TCA406005699BCKDHAc.334C>T (p.Leu112Phe)
c.268C>T (p.Leu90Phe)
n.460C>T
c.436C>T (p.Leu146Phe)
c.141C>T
c.288+152C>T (n.288+152C>T)
19g.41410969T>ACA406005705BCKDHAc.335T>A (p.Leu112His)
c.269T>A (p.Leu90His)
n.461T>A
c.437T>A (p.Leu146His)
c.142T>A
c.288+153T>A (n.288+153T>A)
19g.41410969T>CCA406005707BCKDHAc.335T>C (p.Leu112Pro)
c.269T>C (p.Leu90Pro)
n.461T>C
c.437T>C (p.Leu146Pro)
c.142T>C
c.288+153T>C (n.288+153T>C)
 ClinVar dbSNP
19g.41410969T>GCA406005706BCKDHAc.335T>G (p.Leu112Arg)
c.269T>G (p.Leu90Arg)
n.461T>G
c.437T>G (p.Leu146Arg)
c.142T>G
c.288+153T>G (n.288+153T>G)
19g.41410969T=CA2336453935BCKDHAc.335T= (p.Leu112=)
c.269T= (p.Leu90=)
n.461T=
c.437T= (p.Leu146=)
c.142T=
c.288+153T= (n.288+153T=)
19g.41410970T>ACA507555663BCKDHAc.336T>A (p.Leu112=)
c.270T>A (p.Leu90=)
n.462T>A
c.438T>A (p.Leu146=)
c.143T>A
c.288+154T>A (n.288+154T>A)
 ClinVar dbSNP
19g.41410970T>CCA507555664BCKDHAc.336T>C (p.Leu112=)
c.270T>C (p.Leu90=)
n.462T>C
c.438T>C (p.Leu146=)
c.143T>C
c.288+154T>C (n.288+154T>C)
19g.41410970T>GCA9461089BCKDHAc.336T>G (p.Leu112=)
c.270T>G (p.Leu90=)
n.462T>G
c.438T>G (p.Leu146=)
c.143T>G
c.288+154T>G (n.288+154T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410970T=CA2336453936BCKDHAc.336T= (p.Leu112=)
c.270T= (p.Leu90=)
n.462T=
c.438T= (p.Leu146=)
c.143T=
c.288+154T= (n.288+154T=)
19g.41410971A>CCA406005723BCKDHAc.337A>C (p.Asn113His)
c.271A>C (p.Asn91His)
n.463A>C
c.439A>C (p.Asn147His)
c.144A>C
c.288+155A>C (n.288+155A>C)
19g.41410971A>GCA406005715BCKDHAc.337A>G (p.Asn113Asp)
c.271A>G (p.Asn91Asp)
n.463A>G
c.439A>G (p.Asn147Asp)
c.144A>G
c.288+155A>G (n.288+155A>G)
19g.41410971A>TCA406005718BCKDHAc.337A>T (p.Asn113Tyr)
c.271A>T (p.Asn91Tyr)
n.463A>T
c.439A>T (p.Asn147Tyr)
c.144A>T
c.288+155A>T (n.288+155A>T)
19g.41410972A>CCA406005727BCKDHAc.338A>C (p.Asn113Thr)
c.272A>C (p.Asn91Thr)
n.464A>C
c.440A>C (p.Asn147Thr)
c.145A>C
c.288+156A>C (n.288+156A>C)
19g.41410972A>GCA406005731BCKDHAc.338A>G (p.Asn113Ser)
c.272A>G (p.Asn91Ser)
n.464A>G
c.440A>G (p.Asn147Ser)
c.145A>G
c.288+156A>G (n.288+156A>G)
19g.41410972A>TCA406005736BCKDHAc.338A>T (p.Asn113Ile)
c.272A>T (p.Asn91Ile)
n.464A>T
c.440A>T (p.Asn147Ile)
c.145A>T
c.288+156A>T (n.288+156A>T)
19g.41410973C>ACA406005752BCKDHAc.339C>A (p.Asn113Lys)
c.273C>A (p.Asn91Lys)
n.465C>A
c.441C>A (p.Asn147Lys)
c.146C>A
c.288+157C>A (n.288+157C>A)
19g.41410973C=CA2336453937BCKDHAc.339C= (p.Asn113=)
c.273C= (p.Asn91=)
n.465C=
c.441C= (p.Asn147=)
c.146C=
c.288+157C= (n.288+157C=)
19g.41410973C>GCA406005744BCKDHAc.339C>G (p.Asn113Lys)
c.273C>G (p.Asn91Lys)
n.465C>G
c.441C>G (p.Asn147Lys)
c.146C>G
c.288+157C>G (n.288+157C>G)
19g.41410973C>TCA9461090BCKDHAc.339C>T (p.Asn113=)
c.273C>T (p.Asn91=)
n.465C>T
c.441C>T (p.Asn147=)
c.146C>T
c.288+157C>T (n.288+157C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410974A>CCA406005756BCKDHAc.340A>C (p.Thr114Pro)
c.274A>C (p.Thr92Pro)
n.466A>C
c.442A>C (p.Thr148Pro)
c.147A>C
c.288+158A>C (n.288+158A>C)
19g.41410974A>GCA406005760BCKDHAc.340A>G (p.Thr114Ala)
c.274A>G (p.Thr92Ala)
n.466A>G
c.442A>G (p.Thr148Ala)
c.147A>G
c.288+158A>G (n.288+158A>G)
19g.41410974A>TCA406005761BCKDHAc.340A>T (p.Thr114Ser)
c.274A>T (p.Thr92Ser)
n.466A>T
c.442A>T (p.Thr148Ser)
c.147A>T
c.288+158A>T (n.288+158A>T)
19g.41410975C>ACA406005763BCKDHAc.341C>A (p.Thr114Asn)
c.275C>A (p.Thr92Asn)
n.467C>A
c.443C>A (p.Thr148Asn)
c.148C>A
c.288+159C>A (n.288+159C>A)
19g.41410975C=CA2336453938BCKDHAc.341C= (p.Thr114=)
c.275C= (p.Thr92=)
n.467C=
c.443C= (p.Thr148=)
c.148C=
c.288+159C= (n.288+159C=)
19g.41410975C>GCA9461091BCKDHAc.341C>G (p.Thr114Ser)
c.275C>G (p.Thr92Ser)
n.467C>G
c.443C>G (p.Thr148Ser)
c.148C>G
c.288+159C>G (n.288+159C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41410975C>TCA406005767BCKDHAc.341C>T (p.Thr114Ile)
c.275C>T (p.Thr92Ile)
n.467C>T
c.443C>T (p.Thr148Ile)
c.148C>T
c.288+159C>T (n.288+159C>T)
19g.41410976C>ACA507555683BCKDHAc.342C>A (p.Thr114=)
c.276C>A (p.Thr92=)
n.468C>A
c.444C>A (p.Thr148=)
c.149C>A
c.288+160C>A (n.288+160C>A)
19g.41410976C>GCA507555684BCKDHAc.342C>G (p.Thr114=)
c.276C>G (p.Thr92=)
n.468C>G
c.444C>G (p.Thr148=)
c.149C>G
c.288+160C>G (n.288+160C>G)
19g.41410976C>TCA507555685BCKDHAc.342C>T (p.Thr114=)
c.276C>T (p.Thr92=)
n.468C>T
c.444C>T (p.Thr148=)
c.149C>T
c.288+160C>T (n.288+160C>T)
 ClinVar
19g.41410977A>CCA406005768BCKDHAc.343A>C (p.Met115Leu)
c.277A>C (p.Met93Leu)
n.469A>C
c.445A>C (p.Met149Leu)
c.150A>C
c.288+161A>C (n.288+161A>C)
19g.41410977A>GCA406005773BCKDHAc.343A>G (p.Met115Val)
c.277A>G (p.Met93Val)
n.469A>G
c.445A>G (p.Met149Val)
c.150A>G
c.288+161A>G (n.288+161A>G)
19g.41410977A>TCA406005771BCKDHAc.343A>T (p.Met115Leu)
c.277A>T (p.Met93Leu)
n.469A>T
c.445A>T (p.Met149Leu)
c.150A>T
c.288+161A>T (n.288+161A>T)
19g.41410978T>ACA406005776BCKDHAc.344T>A (p.Met115Lys)
c.278T>A (p.Met93Lys)
n.470T>A
c.446T>A (p.Met149Lys)
c.151T>A
c.288+162T>A (n.288+162T>A)
19g.41410978T>CCA406005779BCKDHAc.344T>C (p.Met115Thr)
c.278T>C (p.Met93Thr)
n.470T>C
c.446T>C (p.Met149Thr)
c.151T>C
c.288+162T>C (n.288+162T>C)
19g.41410978T>GCA406005783BCKDHAc.344T>G (p.Met115Arg)
c.278T>G (p.Met93Arg)
n.470T>G
c.446T>G (p.Met149Arg)
c.151T>G
c.288+162T>G (n.288+162T>G)
19g.41410979G>ACA406005786BCKDHAc.345G>A (p.Met115Ile)
c.279G>A (p.Met93Ile)
n.471G>A
c.447G>A (p.Met149Ile)
c.152G>A
c.288+163G>A (n.288+163G>A)
19g.41410979G>CCA406005790BCKDHAc.345G>C (p.Met115Ile)
c.279G>C (p.Met93Ile)
n.471G>C
c.447G>C (p.Met149Ile)
c.152G>C
c.288+163G>C (n.288+163G>C)
19g.41410979G>TCA406005794BCKDHAc.345G>T (p.Met115Ile)
c.279G>T (p.Met93Ile)
n.471G>T
c.447G>T (p.Met149Ile)
c.152G>T
c.288+163G>T (n.288+163G>T)
19g.41410979_41410980delinsAACA645614572BCKDHAc.345_346delinsAA (p.Met115_Asp116delinsIleAsn)
c.279_280delinsAA (p.Met93_Asp94delinsIleAsn)
n.471_472delinsAA
c.447_448delinsAA (p.Met149_Asp150delinsIleAsn)
c.152_153delinsAA
c.288+163_288+164delinsAA (n.288+163_288+164delinsAA)
 COSMIC
19g.41410980G>ACA406005800BCKDHAc.346G>A (p.Asp116Asn)
c.280G>A (p.Asp94Asn)
n.472G>A
c.448G>A (p.Asp150Asn)
c.153G>A
c.288+164G>A (n.288+164G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41410980G>CCA406005802BCKDHAc.346G>C (p.Asp116His)
c.280G>C (p.Asp94His)
n.472G>C
c.448G>C (p.Asp150His)
c.153G>C
c.288+164G>C (n.288+164G>C)
19g.41410980G=CA2336453939BCKDHAc.346G= (p.Asp116=)
c.280G= (p.Asp94=)
n.472G=
c.448G= (p.Asp150=)
c.153G=
c.288+164G= (n.288+164G=)
19g.41410980G>TCA406005810BCKDHAc.346G>T (p.Asp116Tyr)
c.280G>T (p.Asp94Tyr)
n.472G>T
c.448G>T (p.Asp150Tyr)
c.153G>T
c.288+164G>T (n.288+164G>T)

Number of alleles fetched