Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41422211_41422213delCA2585307993BCKDHAc.694_696del (p.Val232del)
c.628_630del (p.Val210del)
n.323_325del
c.796_798del (p.Val266del)
c.594_596del
c.607_609del (p.Val203del)
n.322_324del
 gnomAD v4
19g.41422209T>ACA406012742BCKDHAc.692T>A (p.Val231Asp)
c.626T>A (p.Val209Asp)
n.321T>A
c.794T>A (p.Val265Asp)
c.592T>A
c.605T>A (p.Val202Asp)
n.320T>A
19g.41422209T>CCA406012743BCKDHAc.692T>C (p.Val231Ala)
c.626T>C (p.Val209Ala)
n.321T>C
c.794T>C (p.Val265Ala)
c.592T>C
c.605T>C (p.Val202Ala)
n.320T>C
19g.41422209T>GCA406012744BCKDHAc.692T>G (p.Val231Gly)
c.626T>G (p.Val209Gly)
n.321T>G
c.794T>G (p.Val265Gly)
c.592T>G
c.605T>G (p.Val202Gly)
n.320T>G
 dbSNP
19g.41422209T=CA2336459004BCKDHAc.692T= (p.Val231=)
c.626T= (p.Val209=)
n.321T=
c.794T= (p.Val265=)
c.592T=
c.605T= (p.Val202=)
n.320T=
19g.41422210C>ACA507690408BCKDHAc.693C>A (p.Val231=)
c.627C>A (p.Val209=)
n.322C>A
c.795C>A (p.Val265=)
c.593C>A
c.606C>A (p.Val202=)
n.321C>A
19g.41422210C=CA2336459005BCKDHAc.693C= (p.Val231=)
c.627C= (p.Val209=)
n.322C=
c.795C= (p.Val265=)
c.593C=
c.606C= (p.Val202=)
n.321C=
19g.41422210C>GCA507690411BCKDHAc.693C>G (p.Val231=)
c.627C>G (p.Val209=)
n.322C>G
c.795C>G (p.Val265=)
c.593C>G
c.606C>G (p.Val202=)
n.321C>G
 gnomAD v4
19g.41422210C>TCA9461245BCKDHAc.693C>T (p.Val231=)
c.627C>T (p.Val209=)
n.322C>T
c.795C>T (p.Val265=)
c.593C>T
c.606C>T (p.Val202=)
n.321C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422211G>ACA308524145BCKDHAc.694G>A (p.Val232Ile)
c.628G>A (p.Val210Ile)
n.323G>A
c.796G>A (p.Val266Ile)
c.594G>A
c.607G>A (p.Val203Ile)
n.322G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422211G>CCA406012745BCKDHAc.694G>C (p.Val232Leu)
c.628G>C (p.Val210Leu)
n.323G>C
c.796G>C (p.Val266Leu)
c.594G>C
c.607G>C (p.Val203Leu)
n.322G>C
19g.41422211G=CA2336459006BCKDHAc.694G= (p.Val232=)
c.628G= (p.Val210=)
n.323G=
c.796G= (p.Val266=)
c.594G=
c.607G= (p.Val203=)
n.322G=
19g.41422211G>TCA406012746BCKDHAc.694G>T (p.Val232Phe)
c.628G>T (p.Val210Phe)
n.323G>T
c.796G>T (p.Val266Phe)
c.594G>T
c.607G>T (p.Val203Phe)
n.322G>T
19g.41422212T>ACA406012747BCKDHAc.695T>A (p.Val232Asp)
c.629T>A (p.Val210Asp)
n.324T>A
c.797T>A (p.Val266Asp)
c.595T>A
c.608T>A (p.Val203Asp)
n.323T>A
19g.41422212T>CCA406012748BCKDHAc.695T>C (p.Val232Ala)
c.629T>C (p.Val210Ala)
n.324T>C
c.797T>C (p.Val266Ala)
c.595T>C
c.608T>C (p.Val203Ala)
n.323T>C
 gnomAD v4
19g.41422212T>GCA406012749BCKDHAc.695T>G (p.Val232Gly)
c.629T>G (p.Val210Gly)
n.324T>G
c.797T>G (p.Val266Gly)
c.595T>G
c.608T>G (p.Val203Gly)
n.323T>G
19g.41422212_41422213delCA2580097291BCKDHAc.695_696del (p.Val232AspfsTer11)
c.629_630del (p.Val210AspfsTer11)
n.324_325del
c.797_798del (p.Val266AspfsTer11)
c.595_596del
c.608_609del (p.Val203AspfsTer11)
n.323_324del
 ClinVar
19g.41422213C>ACA507690423BCKDHAc.696C>A (p.Val232=)
c.630C>A (p.Val210=)
n.325C>A
c.798C>A (p.Val266=)
c.596C>A
c.609C>A (p.Val203=)
n.324C>A
19g.41422213C>GCA507690417BCKDHAc.696C>G (p.Val232=)
c.630C>G (p.Val210=)
n.325C>G
c.798C>G (p.Val266=)
c.596C>G
c.609C>G (p.Val203=)
n.324C>G
19g.41422213C>TCA507690420BCKDHAc.696C>T (p.Val232=)
c.630C>T (p.Val210=)
n.325C>T
c.798C>T (p.Val266=)
c.596C>T
c.609C>T (p.Val203=)
n.324C>T
 gnomAD v4
19g.41422214A>CCA406012750BCKDHAc.697A>C (p.Ile233Leu)
c.631A>C (p.Ile211Leu)
n.326A>C
c.799A>C (p.Ile267Leu)
c.597A>C
c.610A>C (p.Ile204Leu)
n.325A>C
19g.41422214A>GCA406012751BCKDHAc.697A>G (p.Ile233Val)
c.631A>G (p.Ile211Val)
n.326A>G
c.799A>G (p.Ile267Val)
c.597A>G
c.610A>G (p.Ile204Val)
n.325A>G
 gnomAD v4
19g.41422214A>TCA406012752BCKDHAc.697A>T (p.Ile233Phe)
c.631A>T (p.Ile211Phe)
n.326A>T
c.799A>T (p.Ile267Phe)
c.597A>T
c.610A>T (p.Ile204Phe)
n.325A>T
19g.41422215T>ACA406012753BCKDHAc.698T>A (p.Ile233Asn)
c.632T>A (p.Ile211Asn)
n.327T>A
c.800T>A (p.Ile267Asn)
c.598T>A
c.611T>A (p.Ile204Asn)
n.326T>A
19g.41422215T>CCA406012754BCKDHAc.698T>C (p.Ile233Thr)
c.632T>C (p.Ile211Thr)
n.327T>C
c.800T>C (p.Ile267Thr)
c.598T>C
c.611T>C (p.Ile204Thr)
n.326T>C
19g.41422215T>GCA406012755BCKDHAc.698T>G (p.Ile233Ser)
c.632T>G (p.Ile211Ser)
n.327T>G
c.800T>G (p.Ile267Ser)
c.598T>G
c.611T>G (p.Ile204Ser)
n.326T>G
19g.41422216_41422217delCA2580097292BCKDHAc.699_700del (p.Ile233MetfsTer10)
c.633_634del (p.Ile211MetfsTer10)
n.328_329del
c.801_802del (p.Ile267MetfsTer10)
c.599_600del
c.612_613del (p.Ile204MetfsTer10)
n.327_328del
 ClinVar gnomAD v4
19g.41422216C>ACA507690429BCKDHAc.699C>A (p.Ile233=)
c.633C>A (p.Ile211=)
n.328C>A
c.801C>A (p.Ile267=)
c.599C>A
c.612C>A (p.Ile204=)
n.327C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422216C=CA2336459007BCKDHAc.699C= (p.Ile233=)
c.633C= (p.Ile211=)
n.328C=
c.801C= (p.Ile267=)
c.599C=
c.612C= (p.Ile204=)
n.327C=
19g.41422216C>GCA406012756BCKDHAc.699C>G (p.Ile233Met)
c.633C>G (p.Ile211Met)
n.328C>G
c.801C>G (p.Ile267Met)
c.599C>G
c.612C>G (p.Ile204Met)
n.327C>G
19g.41422216C>TCA507690430BCKDHAc.699C>T (p.Ile233=)
c.633C>T (p.Ile211=)
n.328C>T
c.801C>T (p.Ile267=)
c.599C>T
c.612C>T (p.Ile204=)
n.327C>T
 dbSNP gnomAD v4
19g.41422217T>ACA406012757BCKDHAc.700T>A (p.Cys234Ser)
c.634T>A (p.Cys212Ser)
n.329T>A
c.802T>A (p.Cys268Ser)
c.600T>A
c.613T>A (p.Cys205Ser)
n.328T>A
19g.41422217T>CCA406012758BCKDHAc.700T>C (p.Cys234Arg)
c.634T>C (p.Cys212Arg)
n.329T>C
c.802T>C (p.Cys268Arg)
c.600T>C
c.613T>C (p.Cys205Arg)
n.328T>C
19g.41422217T>GCA406012759BCKDHAc.700T>G (p.Cys234Gly)
c.634T>G (p.Cys212Gly)
n.329T>G
c.802T>G (p.Cys268Gly)
c.600T>G
c.613T>G (p.Cys205Gly)
n.328T>G
19g.41422218_41422219delCA2499225496BCKDHAc.701_702del (p.Cys234LeufsTer9)
c.635_636del (p.Cys212LeufsTer9)
n.330_331del
c.803_804del (p.Cys268LeufsTer9)
c.601_602del
c.614_615del (p.Cys205LeufsTer9)
n.329_330del
 ClinVar dbSNP
19g.41422218G>ACA406012762BCKDHAc.701G>A (p.Cys234Tyr)
c.635G>A (p.Cys212Tyr)
n.330G>A
c.803G>A (p.Cys268Tyr)
c.601G>A
c.614G>A (p.Cys205Tyr)
n.329G>A
19g.41422218G>CCA406012761BCKDHAc.701G>C (p.Cys234Ser)
c.635G>C (p.Cys212Ser)
n.330G>C
c.803G>C (p.Cys268Ser)
c.601G>C
c.614G>C (p.Cys205Ser)
n.329G>C
19g.41422218G>TCA406012760BCKDHAc.701G>T (p.Cys234Phe)
c.635G>T (p.Cys212Phe)
n.330G>T
c.803G>T (p.Cys268Phe)
c.601G>T
c.614G>T (p.Cys205Phe)
n.329G>T
19g.41422219T>ACA406012763BCKDHAc.702T>A (p.Cys234Ter)
c.636T>A (p.Cys212Ter)
n.331T>A
c.804T>A (p.Cys268Ter)
c.602T>A
c.615T>A (p.Cys205Ter)
n.330T>A
19g.41422219T>CCA507690437BCKDHAc.702T>C (p.Cys234=)
c.636T>C (p.Cys212=)
n.331T>C
c.804T>C (p.Cys268=)
c.602T>C
c.615T>C (p.Cys205=)
n.330T>C
19g.41422219T>GCA406012764BCKDHAc.702T>G (p.Cys234Trp)
c.636T>G (p.Cys212Trp)
n.331T>G
c.804T>G (p.Cys268Trp)
c.602T>G
c.615T>G (p.Cys205Trp)
n.330T>G
19g.41422220delCA2695228766BCKDHAc.703del (p.Tyr235ThrfsTer?)
c.637del (p.Tyr213ThrfsTer?)
n.332del
c.805del (p.Tyr269ThrfsTer?)
c.603del
c.616del (p.Tyr206ThrfsTer?)
n.331del
19g.41422220T>ACA406012765BCKDHAc.703T>A (p.Tyr235Asn)
c.637T>A (p.Tyr213Asn)
n.332T>A
c.805T>A (p.Tyr269Asn)
c.603T>A
c.616T>A (p.Tyr206Asn)
n.331T>A
19g.41422220T>CCA406012766BCKDHAc.703T>C (p.Tyr235His)
c.637T>C (p.Tyr213His)
n.332T>C
c.805T>C (p.Tyr269His)
c.603T>C
c.616T>C (p.Tyr206His)
n.331T>C
19g.41422220T>GCA406012767BCKDHAc.703T>G (p.Tyr235Asp)
c.637T>G (p.Tyr213Asp)
n.332T>G
c.805T>G (p.Tyr269Asp)
c.603T>G
c.616T>G (p.Tyr206Asp)
n.331T>G
19g.41422221A>CCA406012768BCKDHAc.704A>C (p.Tyr235Ser)
c.638A>C (p.Tyr213Ser)
n.333A>C
c.806A>C (p.Tyr269Ser)
c.604A>C
c.617A>C (p.Tyr206Ser)
n.332A>C
19g.41422221A>GCA406012769BCKDHAc.704A>G (p.Tyr235Cys)
c.638A>G (p.Tyr213Cys)
n.333A>G
c.806A>G (p.Tyr269Cys)
c.604A>G
c.617A>G (p.Tyr206Cys)
n.332A>G
19g.41422221A>TCA406012770BCKDHAc.704A>T (p.Tyr235Phe)
c.638A>T (p.Tyr213Phe)
n.333A>T
c.806A>T (p.Tyr269Phe)
c.604A>T
c.617A>T (p.Tyr206Phe)
n.332A>T
19g.41422222C>ACA406012771BCKDHAc.705C>A (p.Tyr235Ter)
c.639C>A (p.Tyr213Ter)
n.334C>A
c.807C>A (p.Tyr269Ter)
c.605C>A
c.618C>A (p.Tyr206Ter)
n.333C>A
 dbSNP gnomAD v4
19g.41422222C=CA2336459008BCKDHAc.705C= (p.Tyr235=)
c.639C= (p.Tyr213=)
n.334C=
c.807C= (p.Tyr269=)
c.605C=
c.618C= (p.Tyr206=)
n.333C=
19g.41422222C>GCA406012772BCKDHAc.705C>G (p.Tyr235Ter)
c.639C>G (p.Tyr213Ter)
n.334C>G
c.807C>G (p.Tyr269Ter)
c.605C>G
c.618C>G (p.Tyr206Ter)
n.333C>G
19g.41422222C>TCA507690443BCKDHAc.705C>T (p.Tyr235=)
c.639C>T (p.Tyr213=)
n.334C>T
c.807C>T (p.Tyr269=)
c.605C>T
c.618C>T (p.Tyr206=)
n.333C>T
 ClinVar dbSNP gnomAD v4
19g.41422223T>ACA406012773BCKDHAc.706T>A (p.Phe236Ile)
c.640T>A (p.Phe214Ile)
n.335T>A
c.808T>A (p.Phe270Ile)
c.606T>A
c.619T>A (p.Phe207Ile)
n.334T>A
19g.41422223T>CCA406012774BCKDHAc.706T>C (p.Phe236Leu)
c.640T>C (p.Phe214Leu)
n.335T>C
c.808T>C (p.Phe270Leu)
c.606T>C
c.619T>C (p.Phe207Leu)
n.334T>C
19g.41422223T>GCA406012775BCKDHAc.706T>G (p.Phe236Val)
c.640T>G (p.Phe214Val)
n.335T>G
c.808T>G (p.Phe270Val)
c.606T>G
c.619T>G (p.Phe207Val)
n.334T>G
19g.41422224T>ACA406012777BCKDHAc.707T>A (p.Phe236Tyr)
c.641T>A (p.Phe214Tyr)
n.336T>A
c.809T>A (p.Phe270Tyr)
c.607T>A
c.620T>A (p.Phe207Tyr)
n.335T>A
19g.41422224T>CCA406012778BCKDHAc.707T>C (p.Phe236Ser)
c.641T>C (p.Phe214Ser)
n.336T>C
c.809T>C (p.Phe270Ser)
c.607T>C
c.620T>C (p.Phe207Ser)
n.335T>C
19g.41422224T>GCA406012776BCKDHAc.707T>G (p.Phe236Cys)
c.641T>G (p.Phe214Cys)
n.336T>G
c.809T>G (p.Phe270Cys)
c.607T>G
c.620T>G (p.Phe207Cys)
n.335T>G
19g.41422225C>ACA406012779BCKDHAc.708C>A (p.Phe236Leu)
c.642C>A (p.Phe214Leu)
n.337C>A
c.810C>A (p.Phe270Leu)
c.608C>A
c.621C>A (p.Phe207Leu)
n.336C>A
19g.41422225C=CA2336459009BCKDHAc.708C= (p.Phe236=)
c.642C= (p.Phe214=)
n.337C=
c.810C= (p.Phe270=)
c.608C=
c.621C= (p.Phe207=)
n.336C=
19g.41422225C>GCA406012780BCKDHAc.708C>G (p.Phe236Leu)
c.642C>G (p.Phe214Leu)
n.337C>G
c.810C>G (p.Phe270Leu)
c.608C>G
c.621C>G (p.Phe207Leu)
n.336C>G
19g.41422225C>TCA221210BCKDHAc.708C>T (p.Phe236=)
c.642C>T (p.Phe214=)
n.337C>T
c.810C>T (p.Phe270=)
c.608C>T
c.621C>T (p.Phe207=)
n.336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422226G>ACA406012781BCKDHAc.709G>A (p.Gly237Ser)
c.643G>A (p.Gly215Ser)
n.338G>A
c.811G>A (p.Gly271Ser)
c.609G>A
c.622G>A (p.Gly208Ser)
n.337G>A
 ClinVar gnomAD v4
19g.41422226G>CCA406012782BCKDHAc.709G>C (p.Gly237Arg)
c.643G>C (p.Gly215Arg)
n.338G>C
c.811G>C (p.Gly271Arg)
c.609G>C
c.622G>C (p.Gly208Arg)
n.337G>C
19g.41422226G>TCA406012783BCKDHAc.709G>T (p.Gly237Cys)
c.643G>T (p.Gly215Cys)
n.338G>T
c.811G>T (p.Gly271Cys)
c.609G>T
c.622G>T (p.Gly208Cys)
n.337G>T
19g.41422227G>ACA406012784BCKDHAc.710G>A (p.Gly237Asp)
c.644G>A (p.Gly215Asp)
n.339G>A
c.812G>A (p.Gly271Asp)
c.610G>A
c.623G>A (p.Gly208Asp)
n.338G>A
19g.41422227G>CCA406012785BCKDHAc.710G>C (p.Gly237Ala)
c.644G>C (p.Gly215Ala)
n.339G>C
c.812G>C (p.Gly271Ala)
c.610G>C
c.623G>C (p.Gly208Ala)
n.338G>C
19g.41422227G>TCA406012786BCKDHAc.710G>T (p.Gly237Val)
c.644G>T (p.Gly215Val)
n.339G>T
c.812G>T (p.Gly271Val)
c.610G>T
c.623G>T (p.Gly208Val)
n.338G>T
19g.41422228C>ACA507690455BCKDHAc.711C>A (p.Gly237=)
c.645C>A (p.Gly215=)
n.340C>A
c.813C>A (p.Gly271=)
c.611C>A
c.624C>A (p.Gly208=)
n.339C>A
19g.41422228C=CA2336459010BCKDHAc.711C= (p.Gly237=)
c.645C= (p.Gly215=)
n.340C=
c.813C= (p.Gly271=)
c.611C=
c.624C= (p.Gly208=)
n.339C=
19g.41422228C>GCA507690457BCKDHAc.711C>G (p.Gly237=)
c.645C>G (p.Gly215=)
n.340C>G
c.813C>G (p.Gly271=)
c.611C>G
c.624C>G (p.Gly208=)
n.339C>G
19g.41422228C>TCA308524153BCKDHAc.711C>T (p.Gly237=)
c.645C>T (p.Gly215=)
n.340C>T
c.813C>T (p.Gly271=)
c.611C>T
c.624C>T (p.Gly208=)
n.339C>T
 dbSNP gnomAD v4
19g.41422229G>ACA406012787BCKDHAc.712G>A (p.Glu238Lys)
c.646G>A (p.Glu216Lys)
n.341G>A
c.814G>A (p.Glu272Lys)
c.612G>A
c.625G>A (p.Glu209Lys)
n.340G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422229G>CCA406012788BCKDHAc.712G>C (p.Glu238Gln)
c.646G>C (p.Glu216Gln)
n.341G>C
c.814G>C (p.Glu272Gln)
c.612G>C
c.625G>C (p.Glu209Gln)
n.340G>C
19g.41422229G=CA2336459011BCKDHAc.712G= (p.Glu238=)
c.646G= (p.Glu216=)
n.341G=
c.814G= (p.Glu272=)
c.612G=
c.625G= (p.Glu209=)
n.340G=
19g.41422229G>TCA406012789BCKDHAc.712G>T (p.Glu238Ter)
c.646G>T (p.Glu216Ter)
n.341G>T
c.814G>T (p.Glu272Ter)
c.612G>T
c.625G>T (p.Glu209Ter)
n.340G>T
 ClinVar dbSNP gnomAD v4
19g.41422230_41422231delCA913016475BCKDHAc.713_714del (p.Glu238GlyfsTer5)
c.647_648del (p.Glu216GlyfsTer5)
n.342_343del
c.815_816del (p.Glu272GlyfsTer5)
c.613_614del
c.626_627del (p.Glu209GlyfsTer5)
n.341_342del
19g.41422230A=CA2336459013BCKDHAc.713A= (p.Glu238=)
c.647A= (p.Glu216=)
n.342A=
c.815A= (p.Glu272=)
c.613A=
c.626A= (p.Glu209=)
n.341A=
19g.41422230A>CCA406012792BCKDHAc.713A>C (p.Glu238Ala)
c.647A>C (p.Glu216Ala)
n.342A>C
c.815A>C (p.Glu272Ala)
c.613A>C
c.626A>C (p.Glu209Ala)
n.341A>C
19g.41422230A>GCA406012790BCKDHAc.713A>G (p.Glu238Gly)
c.647A>G (p.Glu216Gly)
n.342A>G
c.815A>G (p.Glu272Gly)
c.613A>G
c.626A>G (p.Glu209Gly)
n.341A>G
 dbSNP
19g.41422230A>TCA406012791BCKDHAc.713A>T (p.Glu238Val)
c.647A>T (p.Glu216Val)
n.342A>T
c.815A>T (p.Glu272Val)
c.613A>T
c.626A>T (p.Glu209Val)
n.341A>T
19g.41422230_41422231delinsAGCA2336459012BCKDHAc.713_714delinsAG (p.Glu238=)
c.647_648delinsAG (p.Glu216=)
n.342_343delinsAG
c.815_816delinsAG (p.Glu272=)
c.613_614delinsAG
c.626_627delinsAG (p.Glu209=)
n.341_342delinsAG
19g.41422231G>ACA507690460BCKDHAc.714G>A (p.Glu238=)
c.648G>A (p.Glu216=)
n.343G>A
c.816G>A (p.Glu272=)
c.614G>A
c.627G>A (p.Glu209=)
n.342G>A
19g.41422231G>CCA308524156BCKDHAc.714G>C (p.Glu238Asp)
c.648G>C (p.Glu216Asp)
n.343G>C
c.816G>C (p.Glu272Asp)
c.614G>C
c.627G>C (p.Glu209Asp)
n.342G>C
 dbSNP
19g.41422231G=CA2336459014BCKDHAc.714G= (p.Glu238=)
c.648G= (p.Glu216=)
n.343G=
c.816G= (p.Glu272=)
c.614G=
c.627G= (p.Glu209=)
n.342G=
19g.41422231G>TCA406012793BCKDHAc.714G>T (p.Glu238Asp)
c.648G>T (p.Glu216Asp)
n.343G>T
c.816G>T (p.Glu272Asp)
c.614G>T
c.627G>T (p.Glu209Asp)
n.342G>T
19g.41422235dupCA2814427392BCKDHAc.718dup (p.Ala240GlyfsTer4)
c.652dup (p.Ala218GlyfsTer4)
n.347dup
c.820dup (p.Ala274GlyfsTer4)
c.618dup
c.631dup (p.Ala211GlyfsTer4)
n.346dup
19g.41422235delCA658820749BCKDHAc.718del (p.Ala240GlnfsTer?)
c.652del (p.Ala218GlnfsTer?)
n.347del
c.820del (p.Ala274GlnfsTer?)
c.618del
c.631del (p.Ala211GlnfsTer?)
n.346del
 ClinVar dbSNP gnomAD v4
19g.41422232G>ACA406012794BCKDHAc.715G>A (p.Gly239Arg)
c.649G>A (p.Gly217Arg)
n.344G>A
c.817G>A (p.Gly273Arg)
c.615G>A
c.628G>A (p.Gly210Arg)
n.343G>A
 gnomAD v4
19g.41422232G>CCA406012795BCKDHAc.715G>C (p.Gly239Arg)
c.649G>C (p.Gly217Arg)
n.344G>C
c.817G>C (p.Gly273Arg)
c.615G>C
c.628G>C (p.Gly210Arg)
n.343G>C
19g.41422232G>TCA406012796BCKDHAc.715G>T (p.Gly239Trp)
c.649G>T (p.Gly217Trp)
n.344G>T
c.817G>T (p.Gly273Trp)
c.615G>T
c.628G>T (p.Gly210Trp)
n.343G>T
19g.41422233G>ACA406012797BCKDHAc.716G>A (p.Gly239Glu)
c.650G>A (p.Gly217Glu)
n.345G>A
c.818G>A (p.Gly273Glu)
c.616G>A
c.629G>A (p.Gly210Glu)
n.344G>A
 gnomAD v4
19g.41422233G>CCA406012798BCKDHAc.716G>C (p.Gly239Ala)
c.650G>C (p.Gly217Ala)
n.345G>C
c.818G>C (p.Gly273Ala)
c.616G>C
c.629G>C (p.Gly210Ala)
n.344G>C
19g.41422233G>TCA406012799BCKDHAc.716G>T (p.Gly239Val)
c.650G>T (p.Gly217Val)
n.345G>T
c.818G>T (p.Gly273Val)
c.616G>T
c.629G>T (p.Gly210Val)
n.344G>T
19g.41422234G>ACA507690472BCKDHAc.717G>A (p.Gly239=)
c.651G>A (p.Gly217=)
n.346G>A
c.819G>A (p.Gly273=)
c.617G>A
c.630G>A (p.Gly210=)
n.345G>A
 gnomAD v4
19g.41422234G>CCA507690470BCKDHAc.717G>C (p.Gly239=)
c.651G>C (p.Gly217=)
n.346G>C
c.819G>C (p.Gly273=)
c.617G>C
c.630G>C (p.Gly210=)
n.345G>C
19g.41422234G>TCA507690471BCKDHAc.717G>T (p.Gly239=)
c.651G>T (p.Gly217=)
n.346G>T
c.819G>T (p.Gly273=)
c.617G>T
c.630G>T (p.Gly210=)
n.345G>T
19g.41422235G>ACA406012800BCKDHAc.718G>A (p.Ala240Thr)
c.652G>A (p.Ala218Thr)
n.347G>A
c.820G>A (p.Ala274Thr)
c.618G>A
c.631G>A (p.Ala211Thr)
n.346G>A
 gnomAD v4
19g.41422235G>CCA406012801BCKDHAc.718G>C (p.Ala240Pro)
c.652G>C (p.Ala218Pro)
n.347G>C
c.820G>C (p.Ala274Pro)
c.618G>C
c.631G>C (p.Ala211Pro)
n.346G>C
19g.41422235G>TCA406012802BCKDHAc.718G>T (p.Ala240Ser)
c.652G>T (p.Ala218Ser)
n.347G>T
c.820G>T (p.Ala274Ser)
c.618G>T
c.631G>T (p.Ala211Ser)
n.346G>T
19g.41422236C>ACA406012804BCKDHAc.719C>A (p.Ala240Glu)
c.653C>A (p.Ala218Glu)
n.348C>A
c.821C>A (p.Ala274Glu)
c.619C>A
c.632C>A (p.Ala211Glu)
n.347C>A
 gnomAD v4
19g.41422236C=CA2336459015BCKDHAc.719C= (p.Ala240=)
c.653C= (p.Ala218=)
n.348C=
c.821C= (p.Ala274=)
c.619C=
c.632C= (p.Ala211=)
n.347C=
19g.41422236C>GCA406012805BCKDHAc.719C>G (p.Ala240Gly)
c.653C>G (p.Ala218Gly)
n.348C>G
c.821C>G (p.Ala274Gly)
c.619C>G
c.632C>G (p.Ala211Gly)
n.347C>G
19g.41422236C>TCA406012803BCKDHAc.719C>T (p.Ala240Val)
c.653C>T (p.Ala218Val)
n.348C>T
c.821C>T (p.Ala274Val)
c.619C>T
c.632C>T (p.Ala211Val)
n.347C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422237A>CCA507690476BCKDHAc.720A>C (p.Ala240=)
c.654A>C (p.Ala218=)
n.349A>C
c.822A>C (p.Ala274=)
c.620A>C
c.633A>C (p.Ala211=)
n.348A>C
19g.41422237A>GCA507690477BCKDHAc.720A>G (p.Ala240=)
c.654A>G (p.Ala218=)
n.349A>G
c.822A>G (p.Ala274=)
c.620A>G
c.633A>G (p.Ala211=)
n.348A>G
 gnomAD v4
19g.41422237A>TCA507690479BCKDHAc.720A>T (p.Ala240=)
c.654A>T (p.Ala218=)
n.349A>T
c.822A>T (p.Ala274=)
c.620A>T
c.633A>T (p.Ala211=)
n.348A>T
19g.41422238G>ACA9461246BCKDHAc.721G>A (p.Ala241Thr)
c.655G>A (p.Ala219Thr)
n.350G>A
c.823G>A (p.Ala275Thr)
c.621G>A
c.634G>A (p.Ala212Thr)
n.349G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422238G>CCA406012806BCKDHAc.721G>C (p.Ala241Pro)
c.655G>C (p.Ala219Pro)
n.350G>C
c.823G>C (p.Ala275Pro)
c.621G>C
c.634G>C (p.Ala212Pro)
n.349G>C
19g.41422238G=CA2336459016BCKDHAc.721G= (p.Ala241=)
c.655G= (p.Ala219=)
n.350G=
c.823G= (p.Ala275=)
c.621G=
c.634G= (p.Ala212=)
n.349G=
19g.41422238G>TCA406012807BCKDHAc.721G>T (p.Ala241Ser)
c.655G>T (p.Ala219Ser)
n.350G>T
c.823G>T (p.Ala275Ser)
c.621G>T
c.634G>T (p.Ala212Ser)
n.349G>T
19g.41422239C>ACA406012808BCKDHAc.722C>A (p.Ala241Asp)
c.656C>A (p.Ala219Asp)
n.351C>A
c.824C>A (p.Ala275Asp)
c.622C>A
c.635C>A (p.Ala212Asp)
n.350C>A
19g.41422239C>GCA406012809BCKDHAc.722C>G (p.Ala241Gly)
c.656C>G (p.Ala219Gly)
n.351C>G
c.824C>G (p.Ala275Gly)
c.622C>G
c.635C>G (p.Ala212Gly)
n.350C>G
19g.41422239C>TCA406012810BCKDHAc.722C>T (p.Ala241Val)
c.656C>T (p.Ala219Val)
n.351C>T
c.824C>T (p.Ala275Val)
c.622C>T
c.635C>T (p.Ala212Val)
n.350C>T
19g.41422240C>ACA507690482BCKDHAc.723C>A (p.Ala241=)
c.657C>A (p.Ala219=)
n.352C>A
c.825C>A (p.Ala275=)
c.623C>A
c.636C>A (p.Ala212=)
n.351C>A
19g.41422240C>GCA507690483BCKDHAc.723C>G (p.Ala241=)
c.657C>G (p.Ala219=)
n.352C>G
c.825C>G (p.Ala275=)
c.623C>G
c.636C>G (p.Ala212=)
n.351C>G
19g.41422240C>TCA507690484BCKDHAc.723C>T (p.Ala241=)
c.657C>T (p.Ala219=)
n.352C>T
c.825C>T (p.Ala275=)
c.623C>T
c.636C>T (p.Ala212=)
n.351C>T
 ClinVar dbSNP gnomAD v4
19g.41422241A=CA2336459017BCKDHAc.724A= (p.Ser242=)
c.658A= (p.Ser220=)
n.353A=
c.826A= (p.Ser276=)
c.624A=
c.637A= (p.Ser213=)
n.352A=
19g.41422241A>CCA406012812BCKDHAc.724A>C (p.Ser242Arg)
c.658A>C (p.Ser220Arg)
n.353A>C
c.826A>C (p.Ser276Arg)
c.624A>C
c.637A>C (p.Ser213Arg)
n.352A>C
19g.41422241A>GCA9461247BCKDHAc.724A>G (p.Ser242Gly)
c.658A>G (p.Ser220Gly)
n.353A>G
c.826A>G (p.Ser276Gly)
c.624A>G
c.637A>G (p.Ser213Gly)
n.352A>G
 dbSNP ExAC gnomAD v2
19g.41422241A>TCA406012811BCKDHAc.724A>T (p.Ser242Cys)
c.658A>T (p.Ser220Cys)
n.353A>T
c.826A>T (p.Ser276Cys)
c.624A>T
c.637A>T (p.Ser213Cys)
n.352A>T
19g.41422242G>ACA406012813BCKDHAc.725G>A (p.Ser242Asn)
c.659G>A (p.Ser220Asn)
n.354G>A
c.827G>A (p.Ser276Asn)
c.625G>A
c.638G>A (p.Ser213Asn)
n.353G>A
19g.41422242G>CCA406012814BCKDHAc.725G>C (p.Ser242Thr)
c.659G>C (p.Ser220Thr)
n.354G>C
c.827G>C (p.Ser276Thr)
c.625G>C
c.638G>C (p.Ser213Thr)
n.353G>C
19g.41422242G>TCA406012815BCKDHAc.725G>T (p.Ser242Ile)
c.659G>T (p.Ser220Ile)
n.354G>T
c.827G>T (p.Ser276Ile)
c.625G>T
c.638G>T (p.Ser213Ile)
n.353G>T
19g.41422243T>ACA406012816BCKDHAc.726T>A (p.Ser242Arg)
c.660T>A (p.Ser220Arg)
n.355T>A
c.828T>A (p.Ser276Arg)
c.626T>A
c.639T>A (p.Ser213Arg)
n.354T>A
19g.41422243T>CCA9461248BCKDHAc.726T>C (p.Ser242=)
c.660T>C (p.Ser220=)
n.355T>C
c.828T>C (p.Ser276=)
c.626T>C
c.639T>C (p.Ser213=)
n.354T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422243T>GCA406012817BCKDHAc.726T>G (p.Ser242Arg)
c.660T>G (p.Ser220Arg)
n.355T>G
c.828T>G (p.Ser276Arg)
c.626T>G
c.639T>G (p.Ser213Arg)
n.354T>G
19g.41422243T=CA2336459018BCKDHAc.726T= (p.Ser242=)
c.660T= (p.Ser220=)
n.355T=
c.828T= (p.Ser276=)
c.626T=
c.639T= (p.Ser213=)
n.354T=
19g.41422244G>ACA406012818BCKDHAc.727G>A (p.Glu243Lys)
c.661G>A (p.Glu221Lys)
n.356G>A
c.829G>A (p.Glu277Lys)
c.627G>A
c.640G>A (p.Glu214Lys)
n.355G>A
19g.41422244G>CCA406012820BCKDHAc.727G>C (p.Glu243Gln)
c.661G>C (p.Glu221Gln)
n.356G>C
c.829G>C (p.Glu277Gln)
c.627G>C
c.640G>C (p.Glu214Gln)
n.355G>C
19g.41422244G>TCA406012819BCKDHAc.727G>T (p.Glu243Ter)
c.661G>T (p.Glu221Ter)
n.356G>T
c.829G>T (p.Glu277Ter)
c.627G>T
c.640G>T (p.Glu214Ter)
n.355G>T
19g.41422245A=CA2336459019BCKDHAc.728A= (p.Glu243=)
c.662A= (p.Glu221=)
n.357A=
c.830A= (p.Glu277=)
c.628A=
c.641A= (p.Glu214=)
n.356A=
19g.41422245A>CCA406012821BCKDHAc.728A>C (p.Glu243Ala)
c.662A>C (p.Glu221Ala)
n.357A>C
c.830A>C (p.Glu277Ala)
c.628A>C
c.641A>C (p.Glu214Ala)
n.356A>C
 dbSNP gnomAD v2 gnomAD v4
19g.41422245A>GCA406012822BCKDHAc.728A>G (p.Glu243Gly)
c.662A>G (p.Glu221Gly)
n.357A>G
c.830A>G (p.Glu277Gly)
c.628A>G
c.641A>G (p.Glu214Gly)
n.356A>G
19g.41422245A>TCA406012823BCKDHAc.728A>T (p.Glu243Val)
c.662A>T (p.Glu221Val)
n.357A>T
c.830A>T (p.Glu277Val)
c.628A>T
c.641A>T (p.Glu214Val)
n.356A>T
19g.41422246G>ACA9461249BCKDHAc.729G>A (p.Glu243=)
c.663G>A (p.Glu221=)
n.358G>A
c.831G>A (p.Glu277=)
c.629G>A
c.642G>A (p.Glu214=)
n.357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422246G>CCA406012824BCKDHAc.729G>C (p.Glu243Asp)
c.663G>C (p.Glu221Asp)
n.358G>C
c.831G>C (p.Glu277Asp)
c.629G>C
c.642G>C (p.Glu214Asp)
n.357G>C
19g.41422246G=CA2336459020BCKDHAc.729G= (p.Glu243=)
c.663G= (p.Glu221=)
n.358G=
c.831G= (p.Glu277=)
c.629G=
c.642G= (p.Glu214=)
n.357G=
19g.41422246G>TCA406012825BCKDHAc.729G>T (p.Glu243Asp)
c.663G>T (p.Glu221Asp)
n.358G>T
c.831G>T (p.Glu277Asp)
c.629G>T
c.642G>T (p.Glu214Asp)
n.357G>T
19g.41422250dupCA2814427397BCKDHAc.733dup (p.Asp245GlyfsTer13)
c.667dup (p.Asp223GlyfsTer13)
n.362dup
c.835dup (p.Asp279GlyfsTer13)
c.646dup (p.Asp216GlyfsTer13)
n.361dup
19g.41422247G>ACA406012826BCKDHAc.730G>A (p.Gly244Arg)
c.664G>A (p.Gly222Arg)
n.359G>A
c.832G>A (p.Gly278Arg)
c.630G>A
c.643G>A (p.Gly215Arg)
n.358G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422247G>CCA406012827BCKDHAc.730G>C (p.Gly244Arg)
c.664G>C (p.Gly222Arg)
n.359G>C
c.832G>C (p.Gly278Arg)
c.630G>C
c.643G>C (p.Gly215Arg)
n.358G>C
19g.41422247G=CA2336459021BCKDHAc.730G= (p.Gly244=)
c.664G= (p.Gly222=)
n.359G=
c.832G= (p.Gly278=)
c.630G=
c.643G= (p.Gly215=)
n.358G=
19g.41422247G>TCA406012828BCKDHAc.730G>T (p.Gly244Trp)
c.664G>T (p.Gly222Trp)
n.359G>T
c.832G>T (p.Gly278Trp)
c.630G>T
c.643G>T (p.Gly215Trp)
n.358G>T
19g.41422248G>ACA406012829BCKDHAc.731G>A (p.Gly244Glu)
c.665G>A (p.Gly222Glu)
n.360G>A
c.833G>A (p.Gly278Glu)
c.631G>A
c.644G>A (p.Gly215Glu)
n.359G>A
 dbSNP gnomAD v2 gnomAD v4
19g.41422248G>CCA406012830BCKDHAc.731G>C (p.Gly244Ala)
c.665G>C (p.Gly222Ala)
n.360G>C
c.833G>C (p.Gly278Ala)
c.631G>C
c.644G>C (p.Gly215Ala)
n.359G>C
19g.41422248G=CA2336459022BCKDHAc.731G= (p.Gly244=)
c.665G= (p.Gly222=)
n.360G=
c.833G= (p.Gly278=)
c.631G=
c.644G= (p.Gly215=)
n.359G=
19g.41422248G>TCA406012831BCKDHAc.731G>T (p.Gly244Val)
c.665G>T (p.Gly222Val)
n.360G>T
c.833G>T (p.Gly278Val)
c.631G>T
c.644G>T (p.Gly215Val)
n.359G>T
 ClinVar
19g.41422249G>ACA507690502BCKDHAc.732G>A (p.Gly244=)
c.666G>A (p.Gly222=)
n.361G>A
c.834G>A (p.Gly278=)
c.632G>A
c.645G>A (p.Gly215=)
n.360G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422249G>CCA507690500BCKDHAc.732G>C (p.Gly244=)
c.666G>C (p.Gly222=)
n.361G>C
c.834G>C (p.Gly278=)
c.632G>C
c.645G>C (p.Gly215=)
n.360G>C
19g.41422249G=CA2336459023BCKDHAc.732G= (p.Gly244=)
c.666G= (p.Gly222=)
n.361G=
c.834G= (p.Gly278=)
c.632G=
c.645G= (p.Gly215=)
n.360G=
19g.41422249G>TCA507690501BCKDHAc.732G>T (p.Gly244=)
c.666G>T (p.Gly222=)
n.361G>T
c.834G>T (p.Gly278=)
c.632G>T
c.645G>T (p.Gly215=)
n.360G>T
 gnomAD v4
19g.41422250G>ACA406012832BCKDHAc.733G>A (p.Asp245Asn)
c.667G>A (p.Asp223Asn)
n.362G>A
c.835G>A (p.Asp279Asn)
c.646G>A (p.Asp216Asn)
n.361G>A
19g.41422250G>CCA406012834BCKDHAc.733G>C (p.Asp245His)
c.667G>C (p.Asp223His)
n.362G>C
c.835G>C (p.Asp279His)
c.646G>C (p.Asp216His)
n.361G>C
19g.41422250G>TCA406012833BCKDHAc.733G>T (p.Asp245Tyr)
c.667G>T (p.Asp223Tyr)
n.362G>T
c.835G>T (p.Asp279Tyr)
c.646G>T (p.Asp216Tyr)
n.361G>T
19g.41422251A>CCA406012835BCKDHAc.734A>C (p.Asp245Ala)
c.668A>C (p.Asp223Ala)
n.363A>C
c.836A>C (p.Asp279Ala)
c.647A>C (p.Asp216Ala)
n.362A>C
19g.41422251A>GCA406012836BCKDHAc.734A>G (p.Asp245Gly)
c.668A>G (p.Asp223Gly)
n.363A>G
c.836A>G (p.Asp279Gly)
c.647A>G (p.Asp216Gly)
n.362A>G
19g.41422251A>TCA406012837BCKDHAc.734A>T (p.Asp245Val)
c.668A>T (p.Asp223Val)
n.363A>T
c.836A>T (p.Asp279Val)
c.647A>T (p.Asp216Val)
n.362A>T
19g.41422252C>ACA406012838BCKDHAc.735C>A (p.Asp245Glu)
c.669C>A (p.Asp223Glu)
n.364C>A
c.837C>A (p.Asp279Glu)
c.648C>A (p.Asp216Glu)
n.363C>A
19g.41422252C=CA2336459024BCKDHAc.735C= (p.Asp245=)
c.669C= (p.Asp223=)
n.364C=
c.837C= (p.Asp279=)
c.648C= (p.Asp216=)
n.363C=
19g.41422252C>GCA406012839BCKDHAc.735C>G (p.Asp245Glu)
c.669C>G (p.Asp223Glu)
n.364C>G
c.837C>G (p.Asp279Glu)
c.648C>G (p.Asp216Glu)
n.363C>G
19g.41422252C>TCA9461250BCKDHAc.735C>T (p.Asp245=)
c.669C>T (p.Asp223=)
n.364C>T
c.837C>T (p.Asp279=)
c.648C>T (p.Asp216=)
n.363C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422253G>ACA9461251BCKDHAc.736G>A (p.Ala246Thr)
c.670G>A (p.Ala224Thr)
n.365G>A
c.838G>A (p.Ala280Thr)
c.649G>A (p.Ala217Thr)
n.364G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422253G>CCA406012840BCKDHAc.736G>C (p.Ala246Pro)
c.670G>C (p.Ala224Pro)
n.365G>C
c.838G>C (p.Ala280Pro)
c.649G>C (p.Ala217Pro)
n.364G>C
19g.41422253G=CA2336459025BCKDHAc.736G= (p.Ala246=)
c.670G= (p.Ala224=)
n.365G=
c.838G= (p.Ala280=)
c.649G= (p.Ala217=)
n.364G=
19g.41422253G>TCA406012841BCKDHAc.736G>T (p.Ala246Ser)
c.670G>T (p.Ala224Ser)
n.365G>T
c.838G>T (p.Ala280Ser)
c.649G>T (p.Ala217Ser)
n.364G>T
19g.41422254C>ACA406012842BCKDHAc.737C>A (p.Ala246Asp)
c.671C>A (p.Ala224Asp)
n.366C>A
c.839C>A (p.Ala280Asp)
c.650C>A (p.Ala217Asp)
n.365C>A
19g.41422254C=CA2336459026BCKDHAc.737C= (p.Ala246=)
c.671C= (p.Ala224=)
n.366C=
c.839C= (p.Ala280=)
c.650C= (p.Ala217=)
n.365C=
19g.41422254C>GCA406012843BCKDHAc.737C>G (p.Ala246Gly)
c.671C>G (p.Ala224Gly)
n.366C>G
c.839C>G (p.Ala280Gly)
c.650C>G (p.Ala217Gly)
n.365C>G
 dbSNP
19g.41422254C>TCA406012844BCKDHAc.737C>T (p.Ala246Val)
c.671C>T (p.Ala224Val)
n.366C>T
c.839C>T (p.Ala280Val)
c.650C>T (p.Ala217Val)
n.365C>T
19g.41422255C>ACA507690515BCKDHAc.738C>A (p.Ala246=)
c.672C>A (p.Ala224=)
n.367C>A
c.840C>A (p.Ala280=)
c.651C>A (p.Ala217=)
n.366C>A
 dbSNP
19g.41422255C=CA2336459027BCKDHAc.738C= (p.Ala246=)
c.672C= (p.Ala224=)
n.367C=
c.840C= (p.Ala280=)
c.651C= (p.Ala217=)
n.366C=
19g.41422255C>GCA507690512BCKDHAc.738C>G (p.Ala246=)
c.672C>G (p.Ala224=)
n.367C>G
c.840C>G (p.Ala280=)
c.651C>G (p.Ala217=)
n.366C>G
19g.41422255C>TCA507690514BCKDHAc.738C>T (p.Ala246=)
c.672C>T (p.Ala224=)
n.367C>T
c.840C>T (p.Ala280=)
c.651C>T (p.Ala217=)
n.366C>T
19g.41422256C>ACA406012846BCKDHAc.739C>A (p.His247Asn)
c.673C>A (p.His225Asn)
n.368C>A
c.841C>A (p.His281Asn)
c.652C>A (p.His218Asn)
n.367C>A
19g.41422256C>GCA406012847BCKDHAc.739C>G (p.His247Asp)
c.673C>G (p.His225Asp)
n.368C>G
c.841C>G (p.His281Asp)
c.652C>G (p.His218Asp)
n.367C>G
19g.41422256C>TCA406012845BCKDHAc.739C>T (p.His247Tyr)
c.673C>T (p.His225Tyr)
n.368C>T
c.841C>T (p.His281Tyr)
c.652C>T (p.His218Tyr)
n.367C>T
19g.41422257A=CA2336459028BCKDHAc.740A= (p.His247=)
c.674A= (p.His225=)
n.369A=
c.842A= (p.His281=)
c.653A= (p.His218=)
n.368A=
19g.41422257A>CCA406012848BCKDHAc.740A>C (p.His247Pro)
c.674A>C (p.His225Pro)
n.369A>C
c.842A>C (p.His281Pro)
c.653A>C (p.His218Pro)
n.368A>C
19g.41422257A>GCA406012849BCKDHAc.740A>G (p.His247Arg)
c.674A>G (p.His225Arg)
n.369A>G
c.842A>G (p.His281Arg)
c.653A>G (p.His218Arg)
n.368A>G
 ClinVar dbSNP gnomAD v4
19g.41422257A>TCA406012850BCKDHAc.740A>T (p.His247Leu)
c.674A>T (p.His225Leu)
n.369A>T
c.842A>T (p.His281Leu)
c.653A>T (p.His218Leu)
n.368A>T
19g.41422258T>ACA406012851BCKDHAc.741T>A (p.His247Gln)
c.675T>A (p.His225Gln)
n.370T>A
c.843T>A (p.His281Gln)
c.654T>A (p.His218Gln)
n.369T>A
 dbSNP
19g.41422258T>CCA507690521BCKDHAc.741T>C (p.His247=)
c.675T>C (p.His225=)
n.370T>C
c.843T>C (p.His281=)
c.654T>C (p.His218=)
n.369T>C
19g.41422258T>GCA406012852BCKDHAc.741T>G (p.His247Gln)
c.675T>G (p.His225Gln)
n.370T>G
c.843T>G (p.His281Gln)
c.654T>G (p.His218Gln)
n.369T>G
19g.41422258T=CA2336459029BCKDHAc.741T= (p.His247=)
c.675T= (p.His225=)
n.370T=
c.843T= (p.His281=)
c.654T= (p.His218=)
n.369T=
19g.41422258dupCA221212BCKDHAc.741dup (p.Ala248CysfsTer10)
c.675dup (p.Ala226CysfsTer10)
n.370dup
c.843dup (p.Ala282CysfsTer10)
c.654dup (p.Ala219CysfsTer10)
n.369dup
 ClinVar dbSNP
19g.41422259G>ACA406012853BCKDHAc.742G>A (p.Ala248Thr)
c.676G>A (p.Ala226Thr)
n.371G>A
c.844G>A (p.Ala282Thr)
c.655G>A (p.Ala219Thr)
n.370G>A
19g.41422259G>CCA406012855BCKDHAc.742G>C (p.Ala248Pro)
c.676G>C (p.Ala226Pro)
n.371G>C
c.844G>C (p.Ala282Pro)
c.655G>C (p.Ala219Pro)
n.370G>C
19g.41422259G>TCA406012854BCKDHAc.742G>T (p.Ala248Ser)
c.676G>T (p.Ala226Ser)
n.371G>T
c.844G>T (p.Ala282Ser)
c.655G>T (p.Ala219Ser)
n.370G>T
19g.41422260C>ACA406012856BCKDHAc.743C>A (p.Ala248Asp)
c.677C>A (p.Ala226Asp)
n.372C>A
c.845C>A (p.Ala282Asp)
c.656C>A (p.Ala219Asp)
n.371C>A
19g.41422260C=CA2336459030BCKDHAc.743C= (p.Ala248=)
c.677C= (p.Ala226=)
n.372C=
c.845C= (p.Ala282=)
c.656C= (p.Ala219=)
n.371C=
19g.41422260C>GCA406012857BCKDHAc.743C>G (p.Ala248Gly)
c.677C>G (p.Ala226Gly)
n.372C>G
c.845C>G (p.Ala282Gly)
c.656C>G (p.Ala219Gly)
n.371C>G
19g.41422260C>TCA308524255BCKDHAc.743C>T (p.Ala248Val)
c.677C>T (p.Ala226Val)
n.372C>T
c.845C>T (p.Ala282Val)
c.656C>T (p.Ala219Val)
n.371C>T
 ClinVar dbSNP
19g.41422261C>ACA507690525BCKDHAc.744C>A (p.Ala248=)
c.678C>A (p.Ala226=)
n.373C>A
c.846C>A (p.Ala282=)
c.657C>A (p.Ala219=)
n.372C>A
 dbSNP gnomAD v4
19g.41422261C=CA2336459031BCKDHAc.744C= (p.Ala248=)
c.678C= (p.Ala226=)
n.373C=
c.846C= (p.Ala282=)
c.657C= (p.Ala219=)
n.372C=
19g.41422261C>GCA507690527BCKDHAc.744C>G (p.Ala248=)
c.678C>G (p.Ala226=)
n.373C>G
c.846C>G (p.Ala282=)
c.657C>G (p.Ala219=)
n.372C>G
 gnomAD v4
19g.41422261C>TCA9461252BCKDHAc.744C>T (p.Ala248=)
c.678C>T (p.Ala226=)
n.373C>T
c.846C>T (p.Ala282=)
c.657C>T (p.Ala219=)
n.372C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>ACA115515BCKDHAc.745G>A (p.Gly249Ser)
c.679G>A (p.Gly227Ser)
n.374G>A
c.847G>A (p.Gly283Ser)
c.658G>A (p.Gly220Ser)
n.373G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422262G>CCA406012859BCKDHAc.745G>C (p.Gly249Arg)
c.679G>C (p.Gly227Arg)
n.374G>C
c.847G>C (p.Gly283Arg)
c.658G>C (p.Gly220Arg)
n.373G>C
19g.41422262G=CA2336459032BCKDHAc.745G= (p.Gly249=)
c.679G= (p.Gly227=)
n.374G=
c.847G= (p.Gly283=)
c.658G= (p.Gly220=)
n.373G=
19g.41422262G>TCA406012858BCKDHAc.745G>T (p.Gly249Cys)
c.679G>T (p.Gly227Cys)
n.374G>T
c.847G>T (p.Gly283Cys)
c.658G>T (p.Gly220Cys)
n.373G>T
 ClinVar dbSNP
19g.41422263G>ACA406012860BCKDHAc.746G>A (p.Gly249Asp)
c.680G>A (p.Gly227Asp)
n.375G>A
c.848G>A (p.Gly283Asp)
c.659G>A (p.Gly220Asp)
n.374G>A
19g.41422263G>CCA312362BCKDHAc.746G>C (p.Gly249Ala)
c.680G>C (p.Gly227Ala)
n.375G>C
c.848G>C (p.Gly283Ala)
c.659G>C (p.Gly220Ala)
n.374G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422263G=CA2336459033BCKDHAc.746G= (p.Gly249=)
c.680G= (p.Gly227=)
n.375G=
c.848G= (p.Gly283=)
c.659G= (p.Gly220=)
n.374G=
19g.41422263G>TCA406012861BCKDHAc.746G>T (p.Gly249Val)
c.680G>T (p.Gly227Val)
n.375G>T
c.848G>T (p.Gly283Val)
c.659G>T (p.Gly220Val)
n.374G>T
 ClinVar
19g.41422263_41422264delCA2695198206BCKDHAc.746_747del (p.Gly249ValfsTer8)
c.680_681del (p.Gly227ValfsTer8)
n.375_376del
c.848_849del (p.Gly283ValfsTer8)
c.659_660del (p.Gly220ValfsTer8)
n.374_375del
 ClinVar
19g.41422264C>ACA507690530BCKDHAc.747C>A (p.Gly249=)
c.681C>A (p.Gly227=)
n.376C>A
c.849C>A (p.Gly283=)
c.660C>A (p.Gly220=)
n.375C>A
19g.41422264C>GCA507690531BCKDHAc.747C>G (p.Gly249=)
c.681C>G (p.Gly227=)
n.376C>G
c.849C>G (p.Gly283=)
c.660C>G (p.Gly220=)
n.375C>G
19g.41422264C>TCA507690529BCKDHAc.747C>T (p.Gly249=)
c.681C>T (p.Gly227=)
n.376C>T
c.849C>T (p.Gly283=)
c.660C>T (p.Gly220=)
n.375C>T
19g.41422265T>ACA406012862BCKDHAc.748T>A (p.Phe250Ile)
c.682T>A (p.Phe228Ile)
n.377T>A
c.850T>A (p.Phe284Ile)
c.661T>A (p.Phe221Ile)
n.376T>A
19g.41422265T>CCA406012864BCKDHAc.748T>C (p.Phe250Leu)
c.682T>C (p.Phe228Leu)
n.377T>C
c.850T>C (p.Phe284Leu)
c.661T>C (p.Phe221Leu)
n.376T>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422265T>GCA406012863BCKDHAc.748T>G (p.Phe250Val)
c.682T>G (p.Phe228Val)
n.377T>G
c.850T>G (p.Phe284Val)
c.661T>G (p.Phe221Val)
n.376T>G
19g.41422265T=CA2336459034BCKDHAc.748T= (p.Phe250=)
c.682T= (p.Phe228=)
n.377T=
c.850T= (p.Phe284=)
c.661T= (p.Phe221=)
n.376T=
19g.41422266T>ACA406012865BCKDHAc.749T>A (p.Phe250Tyr)
c.683T>A (p.Phe228Tyr)
n.378T>A
c.851T>A (p.Phe284Tyr)
c.662T>A (p.Phe221Tyr)
n.377T>A
19g.41422266T>CCA406012867BCKDHAc.749T>C (p.Phe250Ser)
c.683T>C (p.Phe228Ser)
n.378T>C
c.851T>C (p.Phe284Ser)
c.662T>C (p.Phe221Ser)
n.377T>C
19g.41422266T>GCA406012866BCKDHAc.749T>G (p.Phe250Cys)
c.683T>G (p.Phe228Cys)
n.378T>G
c.851T>G (p.Phe284Cys)
c.662T>G (p.Phe221Cys)
n.377T>G
19g.41422267C>ACA406012868BCKDHAc.750C>A (p.Phe250Leu)
c.684C>A (p.Phe228Leu)
n.379C>A
c.852C>A (p.Phe284Leu)
c.663C>A (p.Phe221Leu)
n.378C>A
 COSMIC
19g.41422267C>GCA406012869BCKDHAc.750C>G (p.Phe250Leu)
c.684C>G (p.Phe228Leu)
n.379C>G
c.852C>G (p.Phe284Leu)
c.663C>G (p.Phe221Leu)
n.378C>G
19g.41422267C>TCA507690535BCKDHAc.750C>T (p.Phe250=)
c.684C>T (p.Phe228=)
n.379C>T
c.852C>T (p.Phe284=)
c.663C>T (p.Phe221=)
n.378C>T
19g.41422268A>CCA406012870BCKDHAc.751A>C (p.Asn251His)
c.685A>C (p.Asn229His)
n.380A>C
c.853A>C (p.Asn285His)
c.664A>C (p.Asn222His)
n.379A>C
19g.41422268A>GCA406012871BCKDHAc.751A>G (p.Asn251Asp)
c.685A>G (p.Asn229Asp)
n.380A>G
c.853A>G (p.Asn285Asp)
c.664A>G (p.Asn222Asp)
n.379A>G
 gnomAD v4
19g.41422268A>TCA406012872BCKDHAc.751A>T (p.Asn251Tyr)
c.685A>T (p.Asn229Tyr)
n.380A>T
c.853A>T (p.Asn285Tyr)
c.664A>T (p.Asn222Tyr)
n.379A>T
19g.41422269A=CA2336459035BCKDHAc.752A= (p.Asn251=)
c.686A= (p.Asn229=)
n.381A=
c.854A= (p.Asn285=)
c.665A= (p.Asn222=)
n.380A=
19g.41422269A>CCA406012873BCKDHAc.752A>C (p.Asn251Thr)
c.686A>C (p.Asn229Thr)
n.381A>C
c.854A>C (p.Asn285Thr)
c.665A>C (p.Asn222Thr)
n.380A>C
19g.41422269A>GCA9461253BCKDHAc.752A>G (p.Asn251Ser)
c.686A>G (p.Asn229Ser)
n.381A>G
c.854A>G (p.Asn285Ser)
c.665A>G (p.Asn222Ser)
n.380A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422269A>TCA406012874BCKDHAc.752A>T (p.Asn251Ile)
c.686A>T (p.Asn229Ile)
n.381A>T
c.854A>T (p.Asn285Ile)
c.665A>T (p.Asn222Ile)
n.380A>T
19g.41422270C>ACA406012877BCKDHAc.753C>A (p.Asn251Lys)
c.687C>A (p.Asn229Lys)
n.382C>A
c.855C>A (p.Asn285Lys)
c.666C>A (p.Asn222Lys)
n.381C>A
19g.41422270C=CA2336459036BCKDHAc.753C= (p.Asn251=)
c.687C= (p.Asn229=)
n.382C=
c.855C= (p.Asn285=)
c.666C= (p.Asn222=)
n.381C=
19g.41422270C>GCA406012875BCKDHAc.753C>G (p.Asn251Lys)
c.687C>G (p.Asn229Lys)
n.382C>G
c.855C>G (p.Asn285Lys)
c.666C>G (p.Asn222Lys)
n.381C>G
 dbSNP gnomAD v4
19g.41422270C>TCA507690542BCKDHAc.753C>T (p.Asn251=)
c.687C>T (p.Asn229=)
n.382C>T
c.855C>T (p.Asn285=)
c.666C>T (p.Asn222=)
n.381C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422271T>ACA406012878BCKDHAc.754T>A (p.Phe252Ile)
c.688T>A (p.Phe230Ile)
n.383T>A
c.856T>A (p.Phe286Ile)
c.667T>A (p.Phe223Ile)
n.382T>A
19g.41422271T>CCA406012879BCKDHAc.754T>C (p.Phe252Leu)
c.688T>C (p.Phe230Leu)
n.383T>C
c.856T>C (p.Phe286Leu)
c.667T>C (p.Phe223Leu)
n.382T>C
19g.41422271T>GCA406012880BCKDHAc.754T>G (p.Phe252Val)
c.688T>G (p.Phe230Val)
n.383T>G
c.856T>G (p.Phe286Val)
c.667T>G (p.Phe223Val)
n.382T>G
19g.41422272T>ACA406012881BCKDHAc.755T>A (p.Phe252Tyr)
c.689T>A (p.Phe230Tyr)
n.384T>A
c.857T>A (p.Phe286Tyr)
c.668T>A (p.Phe223Tyr)
n.383T>A
19g.41422272T>CCA406012882BCKDHAc.755T>C (p.Phe252Ser)
c.689T>C (p.Phe230Ser)
n.384T>C
c.857T>C (p.Phe286Ser)
c.668T>C (p.Phe223Ser)
n.383T>C
19g.41422272T>GCA406012883BCKDHAc.755T>G (p.Phe252Cys)
c.689T>G (p.Phe230Cys)
n.384T>G
c.857T>G (p.Phe286Cys)
c.668T>G (p.Phe223Cys)
n.383T>G
19g.41422272T=CA2336459037BCKDHAc.755T= (p.Phe252=)
c.689T= (p.Phe230=)
n.384T=
c.857T= (p.Phe286=)
c.668T= (p.Phe223=)
n.383T=
19g.41422272_41422273insACA2336459038BCKDHAc.755_756insA (p.Phe252LeufsTer6)
c.689_690insA (p.Phe230LeufsTer6)
n.384_385insA
c.857_858insA (p.Phe286LeufsTer6)
c.668_669insA (p.Phe223LeufsTer6)
n.383_384insA
 ClinVar dbSNP
19g.41422273C>ACA406012885BCKDHAc.756C>A (p.Phe252Leu)
c.690C>A (p.Phe230Leu)
n.385C>A
c.858C>A (p.Phe286Leu)
c.669C>A (p.Phe223Leu)
n.384C>A
19g.41422273C=CA2336459039BCKDHAc.756C= (p.Phe252=)
c.690C= (p.Phe230=)
n.385C=
c.858C= (p.Phe286=)
c.669C= (p.Phe223=)
n.384C=
19g.41422273C>GCA406012884BCKDHAc.756C>G (p.Phe252Leu)
c.690C>G (p.Phe230Leu)
n.385C>G
c.858C>G (p.Phe286Leu)
c.669C>G (p.Phe223Leu)
n.384C>G
 gnomAD v4
19g.41422273C>TCA9461254BCKDHAc.756C>T (p.Phe252=)
c.690C>T (p.Phe230=)
n.385C>T
c.858C>T (p.Phe286=)
c.669C>T (p.Phe223=)
n.384C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41422274G>ACA9461255BCKDHAc.757G>A (p.Ala253Thr)
c.691G>A (p.Ala231Thr)
n.386G>A
c.859G>A (p.Ala287Thr)
c.670G>A (p.Ala224Thr)
n.385G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422274G>CCA406012886BCKDHAc.757G>C (p.Ala253Pro)
c.691G>C (p.Ala231Pro)
n.386G>C
c.859G>C (p.Ala287Pro)
c.670G>C (p.Ala224Pro)
n.385G>C
19g.41422274G=CA2336459040BCKDHAc.757G= (p.Ala253=)
c.691G= (p.Ala231=)
n.386G=
c.859G= (p.Ala287=)
c.670G= (p.Ala224=)
n.385G=
19g.41422274G>TCA406012887BCKDHAc.757G>T (p.Ala253Ser)
c.691G>T (p.Ala231Ser)
n.386G>T
c.859G>T (p.Ala287Ser)
c.670G>T (p.Ala224Ser)
n.385G>T
 COSMIC
19g.41422275C>ACA406012888BCKDHAc.758C>A (p.Ala253Asp)
c.692C>A (p.Ala231Asp)
n.387C>A
c.860C>A (p.Ala287Asp)
c.671C>A (p.Ala224Asp)
n.386C>A
19g.41422275C=CA2336459041BCKDHAc.758C= (p.Ala253=)
c.692C= (p.Ala231=)
n.387C=
c.860C= (p.Ala287=)
c.671C= (p.Ala224=)
n.386C=
19g.41422275C>GCA406012889BCKDHAc.758C>G (p.Ala253Gly)
c.692C>G (p.Ala231Gly)
n.387C>G
c.860C>G (p.Ala287Gly)
c.671C>G (p.Ala224Gly)
n.386C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422275C>TCA406012890BCKDHAc.758C>T (p.Ala253Val)
c.692C>T (p.Ala231Val)
n.387C>T
c.860C>T (p.Ala287Val)
c.671C>T (p.Ala224Val)
n.386C>T
19g.41422276T>ACA507690554BCKDHAc.759T>A (p.Ala253=)
c.693T>A (p.Ala231=)
n.388T>A
c.861T>A (p.Ala287=)
c.672T>A (p.Ala224=)
n.387T>A
19g.41422276T>CCA507690556BCKDHAc.759T>C (p.Ala253=)
c.693T>C (p.Ala231=)
n.388T>C
c.861T>C (p.Ala287=)
c.672T>C (p.Ala224=)
n.387T>C
19g.41422276T>GCA507690555BCKDHAc.759T>G (p.Ala253=)
c.693T>G (p.Ala231=)
n.388T>G
c.861T>G (p.Ala287=)
c.672T>G (p.Ala224=)
n.387T>G
19g.41422277G>ACA406012891BCKDHAc.760G>A (p.Ala254Thr)
c.694G>A (p.Ala232Thr)
n.389G>A
c.862G>A (p.Ala288Thr)
c.673G>A (p.Ala225Thr)
n.388G>A
19g.41422277G>CCA406012892BCKDHAc.760G>C (p.Ala254Pro)
c.694G>C (p.Ala232Pro)
n.389G>C
c.862G>C (p.Ala288Pro)
c.673G>C (p.Ala225Pro)
n.388G>C
19g.41422277G>TCA406012893BCKDHAc.760G>T (p.Ala254Ser)
c.694G>T (p.Ala232Ser)
n.389G>T
c.862G>T (p.Ala288Ser)
c.673G>T (p.Ala225Ser)
n.388G>T
19g.41422278C>ACA221213BCKDHAc.761C>A (p.Ala254Asp)
c.695C>A (p.Ala232Asp)
n.390C>A
c.863C>A (p.Ala288Asp)
c.674C>A (p.Ala225Asp)
n.389C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41422278C=CA2336459042BCKDHAc.761C= (p.Ala254=)
c.695C= (p.Ala232=)
n.390C=
c.863C= (p.Ala288=)
c.674C= (p.Ala225=)
n.389C=
19g.41422278C>GCA406012894BCKDHAc.761C>G (p.Ala254Gly)
c.695C>G (p.Ala232Gly)
n.390C>G
c.863C>G (p.Ala288Gly)
c.674C>G (p.Ala225Gly)
n.389C>G
 dbSNP gnomAD v3 gnomAD v4
19g.41422278C>TCA406012895BCKDHAc.761C>T (p.Ala254Val)
c.695C>T (p.Ala232Val)
n.390C>T
c.863C>T (p.Ala288Val)
c.674C>T (p.Ala225Val)
n.389C>T
19g.41422279C>ACA507690557BCKDHAc.762C>A (p.Ala254=)
c.696C>A (p.Ala232=)
n.391C>A
c.864C>A (p.Ala288=)
c.675C>A (p.Ala225=)
n.390C>A
19g.41422279C=CA2336459043BCKDHAc.762C= (p.Ala254=)
c.696C= (p.Ala232=)
n.391C=
c.864C= (p.Ala288=)
c.675C= (p.Ala225=)
n.390C=
19g.41422279C>GCA507690558BCKDHAc.762C>G (p.Ala254=)
c.696C>G (p.Ala232=)
n.391C>G
c.864C>G (p.Ala288=)
c.675C>G (p.Ala225=)
n.390C>G
19g.41422279C>TCA507690559BCKDHAc.762C>T (p.Ala254=)
c.696C>T (p.Ala232=)
n.391C>T
c.864C>T (p.Ala288=)
c.675C>T (p.Ala225=)
n.390C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422280A>CCA406012896BCKDHAc.763A>C (p.Thr255Pro)
c.697A>C (p.Thr233Pro)
n.392A>C
c.865A>C (p.Thr289Pro)
c.676A>C (p.Thr226Pro)
n.391A>C
19g.41422280A>GCA406012898BCKDHAc.763A>G (p.Thr255Ala)
c.697A>G (p.Thr233Ala)
n.392A>G
c.865A>G (p.Thr289Ala)
c.676A>G (p.Thr226Ala)
n.391A>G
19g.41422280A>TCA406012897BCKDHAc.763A>T (p.Thr255Ser)
c.697A>T (p.Thr233Ser)
n.392A>T
c.865A>T (p.Thr289Ser)
c.676A>T (p.Thr226Ser)
n.391A>T
 gnomAD v4
19g.41422281C>ACA406012899BCKDHAc.764C>A (p.Thr255Lys)
c.698C>A (p.Thr233Lys)
n.393C>A
c.866C>A (p.Thr289Lys)
c.677C>A (p.Thr226Lys)
n.392C>A
19g.41422281C>GCA406012900BCKDHAc.764C>G (p.Thr255Arg)
c.698C>G (p.Thr233Arg)
n.393C>G
c.866C>G (p.Thr289Arg)
c.677C>G (p.Thr226Arg)
n.392C>G
19g.41422281C>TCA406012901BCKDHAc.764C>T (p.Thr255Ile)
c.698C>T (p.Thr233Ile)
n.393C>T
c.866C>T (p.Thr289Ile)
c.677C>T (p.Thr226Ile)
n.392C>T
 gnomAD v4
19g.41422282A=CA2336459044BCKDHAc.765A= (p.Thr255=)
c.699A= (p.Thr233=)
n.394A=
c.867A= (p.Thr289=)
c.678A= (p.Thr226=)
n.393A=
19g.41422282A>CCA507690565BCKDHAc.765A>C (p.Thr255=)
c.699A>C (p.Thr233=)
n.394A>C
c.867A>C (p.Thr289=)
c.678A>C (p.Thr226=)
n.393A>C
19g.41422282A>GCA507690566BCKDHAc.765A>G (p.Thr255=)
c.699A>G (p.Thr233=)
n.394A>G
c.867A>G (p.Thr289=)
c.678A>G (p.Thr226=)
n.393A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41422282A>TCA507690568BCKDHAc.765A>T (p.Thr255=)
c.699A>T (p.Thr233=)
n.394A>T
c.867A>T (p.Thr289=)
c.678A>T (p.Thr226=)
n.393A>T
19g.41422283C>ACA406012902BCKDHAc.766C>A (p.Leu256Ile)
c.700C>A (p.Leu234Ile)
n.395C>A
c.868C>A (p.Leu290Ile)
c.679C>A (p.Leu227Ile)
n.394C>A
19g.41422283C>GCA406012903BCKDHAc.766C>G (p.Leu256Val)
c.700C>G (p.Leu234Val)
n.395C>G
c.868C>G (p.Leu290Val)
c.679C>G (p.Leu227Val)
n.394C>G
19g.41422283C>TCA406012904BCKDHAc.766C>T (p.Leu256Phe)
c.700C>T (p.Leu234Phe)
n.395C>T
c.868C>T (p.Leu290Phe)
c.679C>T (p.Leu227Phe)
n.394C>T
19g.41422284T>ACA406012905BCKDHAc.767T>A (p.Leu256His)
c.701T>A (p.Leu234His)
n.396T>A
c.869T>A (p.Leu290His)
c.680T>A (p.Leu227His)
n.395T>A
19g.41422284T>CCA406012906BCKDHAc.767T>C (p.Leu256Pro)
c.701T>C (p.Leu234Pro)
n.396T>C
c.869T>C (p.Leu290Pro)
c.680T>C (p.Leu227Pro)
n.395T>C
 gnomAD v4
19g.41422284T>GCA406012907BCKDHAc.767T>G (p.Leu256Arg)
c.701T>G (p.Leu234Arg)
n.396T>G
c.869T>G (p.Leu290Arg)
c.680T>G (p.Leu227Arg)
n.395T>G
19g.41422285T>ACA507690570BCKDHAc.768T>A (p.Leu256=)
c.702T>A (p.Leu234=)
n.397T>A
c.870T>A (p.Leu290=)
c.681T>A (p.Leu227=)
n.396T>A
19g.41422285T>CCA507690571BCKDHAc.768T>C (p.Leu256=)
c.702T>C (p.Leu234=)
n.397T>C
c.870T>C (p.Leu290=)
c.681T>C (p.Leu227=)
n.396T>C
 dbSNP gnomAD v3 gnomAD v4
19g.41422285T>GCA507690572BCKDHAc.768T>G (p.Leu256=)
c.702T>G (p.Leu234=)
n.397T>G
c.870T>G (p.Leu290=)
c.681T>G (p.Leu227=)
n.396T>G
19g.41422285T=CA2336459045BCKDHAc.768T= (p.Leu256=)
c.702T= (p.Leu234=)
n.397T=
c.870T= (p.Leu290=)
c.681T= (p.Leu227=)
n.396T=
19g.41422286G>ACA406012908BCKDHAc.769G>A (p.Glu257Lys)
c.703G>A (p.Glu235Lys)
n.398G>A
c.871G>A (p.Glu291Lys)
c.682G>A (p.Glu228Lys)
n.397G>A
19g.41422286G>CCA406012909BCKDHAc.769G>C (p.Glu257Gln)
c.703G>C (p.Glu235Gln)
n.398G>C
c.871G>C (p.Glu291Gln)
c.682G>C (p.Glu228Gln)
n.397G>C
19g.41422286G>TCA406012910BCKDHAc.769G>T (p.Glu257Ter)
c.703G>T (p.Glu235Ter)
n.398G>T
c.871G>T (p.Glu291Ter)
c.682G>T (p.Glu228Ter)
n.397G>T
19g.41422286dupCA2585307994BCKDHAc.769dup (p.Glu257GlyfsTer21)
c.703dup (p.Glu235GlyfsTer21)
n.398dup
c.871dup (p.Glu291GlyfsTer21)
c.682dup (p.Glu228GlyfsTer21)
n.397dup
 gnomAD v4
19g.41422287A>CCA406012913BCKDHAc.770A>C (p.Glu257Ala)
c.704A>C (p.Glu235Ala)
n.399A>C
c.872A>C (p.Glu291Ala)
c.683A>C (p.Glu228Ala)
n.398A>C
19g.41422287A>GCA406012911BCKDHAc.770A>G (p.Glu257Gly)
c.704A>G (p.Glu235Gly)
n.399A>G
c.872A>G (p.Glu291Gly)
c.683A>G (p.Glu228Gly)
n.398A>G
19g.41422287A>TCA406012912BCKDHAc.770A>T (p.Glu257Val)
c.704A>T (p.Glu235Val)
n.399A>T
c.872A>T (p.Glu291Val)
c.683A>T (p.Glu228Val)
n.398A>T
19g.41422288G>ACA507690578BCKDHAc.771G>A (p.Glu257=)
c.705G>A (p.Glu235=)
n.400G>A
c.873G>A (p.Glu291=)
c.684G>A (p.Glu228=)
n.399G>A
 gnomAD v4
19g.41422288G>CCA406012914BCKDHAc.771G>C (p.Glu257Asp)
c.705G>C (p.Glu235Asp)
n.400G>C
c.873G>C (p.Glu291Asp)
c.684G>C (p.Glu228Asp)
n.399G>C
19g.41422288G>TCA406012915BCKDHAc.771G>T (p.Glu257Asp)
c.705G>T (p.Glu235Asp)
n.400G>T
c.873G>T (p.Glu291Asp)
c.684G>T (p.Glu228Asp)
n.399G>T
19g.41422289T>ACA406012916BCKDHAc.772T>A (p.Cys258Ser)
c.706T>A (p.Cys236Ser)
n.401T>A
c.874T>A (p.Cys292Ser)
c.685T>A (p.Cys229Ser)
n.400T>A
19g.41422289T>CCA406012917BCKDHAc.772T>C (p.Cys258Arg)
c.706T>C (p.Cys236Arg)
n.401T>C
c.874T>C (p.Cys292Arg)
c.685T>C (p.Cys229Arg)
n.400T>C
19g.41422289T>GCA406012918BCKDHAc.772T>G (p.Cys258Gly)
c.706T>G (p.Cys236Gly)
n.401T>G
c.874T>G (p.Cys292Gly)
c.685T>G (p.Cys229Gly)
n.400T>G
19g.41422290G>ACA406012919BCKDHAc.773G>A (p.Cys258Tyr)
c.707G>A (p.Cys236Tyr)
n.402G>A
c.875G>A (p.Cys292Tyr)
c.686G>A (p.Cys229Tyr)
n.401G>A
19g.41422290G>CCA406012920BCKDHAc.773G>C (p.Cys258Ser)
c.707G>C (p.Cys236Ser)
n.402G>C
c.875G>C (p.Cys292Ser)
c.686G>C (p.Cys229Ser)
n.401G>C
19g.41422290G>TCA406012921BCKDHAc.773G>T (p.Cys258Phe)
c.707G>T (p.Cys236Phe)
n.402G>T
c.875G>T (p.Cys292Phe)
c.686G>T (p.Cys229Phe)
n.401G>T
19g.41422290_41422291delinsAACA2573054776BCKDHAc.773_774delinsAA (p.Cys258Ter)
c.707_708delinsAA (p.Cys236Ter)
n.402_403delinsAA
c.875_876delinsAA (p.Cys292Ter)
c.686_687delinsAA (p.Cys229Ter)
n.401_402delinsAA
 ClinVar dbSNP
19g.41422291C>ACA406012922BCKDHAc.774C>A (p.Cys258Ter)
c.708C>A (p.Cys236Ter)
n.403C>A
c.876C>A (p.Cys292Ter)
c.687C>A (p.Cys229Ter)
n.402C>A
 ClinVar dbSNP
19g.41422291C=CA2336459046BCKDHAc.774C= (p.Cys258=)
c.708C= (p.Cys236=)
n.403C=
c.876C= (p.Cys292=)
c.687C= (p.Cys229=)
n.402C=
19g.41422291C>GCA406012923BCKDHAc.774C>G (p.Cys258Trp)
c.708C>G (p.Cys236Trp)
n.403C>G
c.876C>G (p.Cys292Trp)
c.687C>G (p.Cys229Trp)
n.402C>G
19g.41422291C>TCA507690579BCKDHAc.774C>T (p.Cys258=)
c.708C>T (p.Cys236=)
n.403C>T
c.876C>T (p.Cys292=)
c.687C>T (p.Cys229=)
n.402C>T
19g.41422292C>ACA406012926BCKDHAc.775C>A (p.Pro259Thr)
c.709C>A (p.Pro237Thr)
n.404C>A
c.877C>A (p.Pro293Thr)
c.688C>A (p.Pro230Thr)
n.403C>A
19g.41422292C>GCA406012925BCKDHAc.775C>G (p.Pro259Ala)
c.709C>G (p.Pro237Ala)
n.404C>G
c.877C>G (p.Pro293Ala)
c.688C>G (p.Pro230Ala)
n.403C>G
19g.41422292C>TCA406012924BCKDHAc.775C>T (p.Pro259Ser)
c.709C>T (p.Pro237Ser)
n.404C>T
c.877C>T (p.Pro293Ser)
c.688C>T (p.Pro230Ser)
n.403C>T
19g.41422293C>ACA406012927BCKDHAc.776C>A (p.Pro259His)
c.710C>A (p.Pro237His)
n.405C>A
c.878C>A (p.Pro293His)
c.689C>A (p.Pro230His)
n.404C>A
19g.41422293C>GCA406012928BCKDHAc.776C>G (p.Pro259Arg)
c.710C>G (p.Pro237Arg)
n.405C>G
c.878C>G (p.Pro293Arg)
c.689C>G (p.Pro230Arg)
n.404C>G
19g.41422293C>TCA406012929BCKDHAc.776C>T (p.Pro259Leu)
c.710C>T (p.Pro237Leu)
n.405C>T
c.878C>T (p.Pro293Leu)
c.689C>T (p.Pro230Leu)
n.404C>T
 ClinVar dbSNP gnomAD v4
19g.41422294C>ACA507690582BCKDHAc.777C>A (p.Pro259=)
c.711C>A (p.Pro237=)
n.406C>A
c.879C>A (p.Pro293=)
c.690C>A (p.Pro230=)
n.405C>A
19g.41422294C>GCA507690583BCKDHAc.777C>G (p.Pro259=)
c.711C>G (p.Pro237=)
n.406C>G
c.879C>G (p.Pro293=)
c.690C>G (p.Pro230=)
n.405C>G
19g.41422294C>TCA507690585BCKDHAc.777C>T (p.Pro259=)
c.711C>T (p.Pro237=)
n.406C>T
c.879C>T (p.Pro293=)
c.690C>T (p.Pro230=)
n.405C>T
 ClinVar
19g.41422298_41422300delCA2585307995BCKDHAc.781_783del (p.Ile261del)
c.715_717del (p.Ile239del)
n.410_412del
c.883_885del (p.Ile295del)
c.694_696del (p.Ile232del)
n.409_411del
 gnomAD v4
19g.41422295A>CCA406012930BCKDHAc.778A>C (p.Ile260Leu)
c.712A>C (p.Ile238Leu)
n.407A>C
c.880A>C (p.Ile294Leu)
c.691A>C (p.Ile231Leu)
n.406A>C
19g.41422295A>GCA406012931BCKDHAc.778A>G (p.Ile260Val)
c.712A>G (p.Ile238Val)
n.407A>G
c.880A>G (p.Ile294Val)
c.691A>G (p.Ile231Val)
n.406A>G
19g.41422295A>TCA406012932BCKDHAc.778A>T (p.Ile260Phe)
c.712A>T (p.Ile238Phe)
n.407A>T
c.880A>T (p.Ile294Phe)
c.691A>T (p.Ile231Phe)
n.406A>T
19g.41422296T>ACA406012933BCKDHAc.779T>A (p.Ile260Asn)
c.713T>A (p.Ile238Asn)
n.408T>A
c.881T>A (p.Ile294Asn)
c.692T>A (p.Ile231Asn)
n.407T>A
19g.41422296T>CCA406012934BCKDHAc.779T>C (p.Ile260Thr)
c.713T>C (p.Ile238Thr)
n.408T>C
c.881T>C (p.Ile294Thr)
c.692T>C (p.Ile231Thr)
n.407T>C
19g.41422296T>GCA406012935BCKDHAc.779T>G (p.Ile260Ser)
c.713T>G (p.Ile238Ser)
n.408T>G
c.881T>G (p.Ile294Ser)
c.692T>G (p.Ile231Ser)
n.407T>G
19g.41422297C>ACA507690591BCKDHAc.780C>A (p.Ile260=)
c.714C>A (p.Ile238=)
n.409C>A
c.882C>A (p.Ile294=)
c.693C>A (p.Ile231=)
n.408C>A
19g.41422297C=CA2336459047BCKDHAc.780C= (p.Ile260=)
c.714C= (p.Ile238=)
n.409C=
c.882C= (p.Ile294=)
c.693C= (p.Ile231=)
n.408C=
19g.41422297C>GCA406012936BCKDHAc.780C>G (p.Ile260Met)
c.714C>G (p.Ile238Met)
n.409C>G
c.882C>G (p.Ile294Met)
c.693C>G (p.Ile231Met)
n.408C>G
 dbSNP
19g.41422297C>TCA507690589BCKDHAc.780C>T (p.Ile260=)
c.714C>T (p.Ile238=)
n.409C>T
c.882C>T (p.Ile294=)
c.693C>T (p.Ile231=)
n.408C>T
19g.41422298A=CA2336459048BCKDHAc.781A= (p.Ile261=)
c.715A= (p.Ile239=)
n.410A=
c.883A= (p.Ile295=)
c.694A= (p.Ile232=)
n.409A=
19g.41422298A>CCA406012937BCKDHAc.781A>C (p.Ile261Leu)
c.715A>C (p.Ile239Leu)
n.410A>C
c.883A>C (p.Ile295Leu)
c.694A>C (p.Ile232Leu)
n.409A>C
19g.41422298A>GCA308524317BCKDHAc.781A>G (p.Ile261Val)
c.715A>G (p.Ile239Val)
n.410A>G
c.883A>G (p.Ile295Val)
c.694A>G (p.Ile232Val)
n.409A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422298A>TCA406012938BCKDHAc.781A>T (p.Ile261Phe)
c.715A>T (p.Ile239Phe)
n.410A>T
c.883A>T (p.Ile295Phe)
c.694A>T (p.Ile232Phe)
n.409A>T
19g.41422298_41422301delinsATCTCA2336459049BCKDHAc.781_784delinsATCT (p.Ile261=)
c.715_718delinsATCT (p.Ile239=)
n.410_413delinsATCT
c.883_886delinsATCT (p.Ile295=)
c.694_697delinsATCT (p.Ile232=)
n.409_412delinsATCT
19g.41422299T>ACA406012942BCKDHAc.782T>A (p.Ile261Asn)
c.716T>A (p.Ile239Asn)
n.411T>A
c.884T>A (p.Ile295Asn)
c.695T>A (p.Ile232Asn)
n.410T>A
19g.41422299T>CCA406012941BCKDHAc.782T>C (p.Ile261Thr)
c.716T>C (p.Ile239Thr)
n.411T>C
c.884T>C (p.Ile295Thr)
c.695T>C (p.Ile232Thr)
n.410T>C
19g.41422299T>GCA406012940BCKDHAc.782T>G (p.Ile261Ser)
c.716T>G (p.Ile239Ser)
n.411T>G
c.884T>G (p.Ile295Ser)
c.695T>G (p.Ile232Ser)
n.410T>G
19g.41422305_41422307delCA221215BCKDHAc.788_790del (p.Phe263del)
c.722_724del (p.Phe241del)
n.417_419del
c.890_892del (p.Phe297del)
c.701_703del (p.Phe234del)
n.416_418del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41422300C>ACA507690599BCKDHAc.783C>A (p.Ile261=)
c.717C>A (p.Ile239=)
n.412C>A
c.885C>A (p.Ile295=)
c.696C>A (p.Ile232=)
n.411C>A
 dbSNP gnomAD v4
19g.41422300C=CA2336459050BCKDHAc.783C= (p.Ile261=)
c.717C= (p.Ile239=)
n.412C=
c.885C= (p.Ile295=)
c.696C= (p.Ile232=)
n.411C=
19g.41422300C>GCA406012943BCKDHAc.783C>G (p.Ile261Met)
c.717C>G (p.Ile239Met)
n.412C>G
c.885C>G (p.Ile295Met)
c.696C>G (p.Ile232Met)
n.411C>G
19g.41422300C>TCA507690601BCKDHAc.783C>T (p.Ile261=)
c.717C>T (p.Ile239=)
n.412C>T
c.885C>T (p.Ile295=)
c.696C>T (p.Ile232=)
n.411C>T
 dbSNP gnomAD v4
19g.41422301T>ACA9461256BCKDHAc.784T>A (p.Phe262Ile)
c.718T>A (p.Phe240Ile)
n.413T>A
c.886T>A (p.Phe296Ile)
c.697T>A (p.Phe233Ile)
n.412T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422301T>CCA406012944BCKDHAc.784T>C (p.Phe262Leu)
c.718T>C (p.Phe240Leu)
n.413T>C
c.886T>C (p.Phe296Leu)
c.697T>C (p.Phe233Leu)
n.412T>C
19g.41422301T>GCA406012945BCKDHAc.784T>G (p.Phe262Val)
c.718T>G (p.Phe240Val)
n.413T>G
c.886T>G (p.Phe296Val)
c.697T>G (p.Phe233Val)
n.412T>G
19g.41422301T=CA2336459051BCKDHAc.784T= (p.Phe262=)
c.718T= (p.Phe240=)
n.413T=
c.886T= (p.Phe296=)
c.697T= (p.Phe233=)
n.412T=
19g.41422302T>ACA406012946BCKDHAc.785T>A (p.Phe262Tyr)
c.719T>A (p.Phe240Tyr)
n.414T>A
c.887T>A (p.Phe296Tyr)
c.698T>A (p.Phe233Tyr)
n.413T>A
19g.41422302T>CCA406012947BCKDHAc.785T>C (p.Phe262Ser)
c.719T>C (p.Phe240Ser)
n.414T>C
c.887T>C (p.Phe296Ser)
c.698T>C (p.Phe233Ser)
n.413T>C
19g.41422302T>GCA406012948BCKDHAc.785T>G (p.Phe262Cys)
c.719T>G (p.Phe240Cys)
n.414T>G
c.887T>G (p.Phe296Cys)
c.698T>G (p.Phe233Cys)
n.413T>G
19g.41422303C>ACA406012949BCKDHAc.786C>A (p.Phe262Leu)
c.720C>A (p.Phe240Leu)
n.415C>A
c.888C>A (p.Phe296Leu)
c.699C>A (p.Phe233Leu)
n.414C>A
19g.41422303C>GCA406012950BCKDHAc.786C>G (p.Phe262Leu)
c.720C>G (p.Phe240Leu)
n.415C>G
c.888C>G (p.Phe296Leu)
c.699C>G (p.Phe233Leu)
n.414C>G
19g.41422303C>TCA507690608BCKDHAc.786C>T (p.Phe262=)
c.720C>T (p.Phe240=)
n.415C>T
c.888C>T (p.Phe296=)
c.699C>T (p.Phe233=)
n.414C>T
 COSMIC
19g.41422304T>ACA406012951BCKDHAc.787T>A (p.Phe263Ile)
c.721T>A (p.Phe241Ile)
n.416T>A
c.889T>A (p.Phe297Ile)
c.700T>A (p.Phe234Ile)
n.415T>A
19g.41422304T>CCA308524322BCKDHAc.787T>C (p.Phe263Leu)
c.721T>C (p.Phe241Leu)
n.416T>C
c.889T>C (p.Phe297Leu)
c.700T>C (p.Phe234Leu)
n.415T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41422304T>GCA9461257BCKDHAc.787T>G (p.Phe263Val)
c.721T>G (p.Phe241Val)
n.416T>G
c.889T>G (p.Phe297Val)
c.700T>G (p.Phe234Val)
n.415T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41422304T=CA2336459052BCKDHAc.787T= (p.Phe263=)
c.721T= (p.Phe241=)
n.416T=
c.889T= (p.Phe297=)
c.700T= (p.Phe234=)
n.415T=
19g.41422305T>ACA406012952BCKDHAc.788T>A (p.Phe263Tyr)
c.722T>A (p.Phe241Tyr)
n.417T>A
c.890T>A (p.Phe297Tyr)
c.701T>A (p.Phe234Tyr)
n.416T>A
19g.41422305T>CCA406012953BCKDHAc.788T>C (p.Phe263Ser)
c.722T>C (p.Phe241Ser)
n.417T>C
c.890T>C (p.Phe297Ser)
c.701T>C (p.Phe234Ser)
n.416T>C
19g.41422305T>GCA406012954BCKDHAc.788T>G (p.Phe263Cys)
c.722T>G (p.Phe241Cys)
n.417T>G
c.890T>G (p.Phe297Cys)
c.701T>G (p.Phe234Cys)
n.416T>G
19g.41422306C>ACA406012955BCKDHAc.789C>A (p.Phe263Leu)
c.723C>A (p.Phe241Leu)
n.418C>A
c.891C>A (p.Phe297Leu)
c.702C>A (p.Phe234Leu)
n.417C>A
19g.41422306C>GCA406012956BCKDHAc.789C>G (p.Phe263Leu)
c.723C>G (p.Phe241Leu)
n.418C>G
c.891C>G (p.Phe297Leu)
c.702C>G (p.Phe234Leu)
n.417C>G
19g.41422306C>TCA507690610BCKDHAc.789C>T (p.Phe263=)
c.723C>T (p.Phe241=)
n.418C>T
c.891C>T (p.Phe297=)
c.702C>T (p.Phe234=)
n.417C>T
 ClinVar
19g.41422307T>ACA406012957BCKDHAc.790T>A (p.Cys264Ser)
c.724T>A (p.Cys242Ser)
n.419T>A
c.892T>A (p.Cys298Ser)
c.703T>A (p.Cys235Ser)
n.418T>A
19g.41422307T>CCA406012958BCKDHAc.790T>C (p.Cys264Arg)
c.724T>C (p.Cys242Arg)
n.419T>C
c.892T>C (p.Cys298Arg)
c.703T>C (p.Cys235Arg)
n.418T>C
19g.41422307T>GCA406012959BCKDHAc.790T>G (p.Cys264Gly)
c.724T>G (p.Cys242Gly)
n.419T>G
c.892T>G (p.Cys298Gly)
c.703T>G (p.Cys235Gly)
n.418T>G
19g.41422308G>ACA406012960BCKDHAc.791G>A (p.Cys264Tyr)
c.725G>A (p.Cys242Tyr)
n.420G>A
c.893G>A (p.Cys298Tyr)
c.704G>A (p.Cys235Tyr)
n.419G>A
19g.41422308G>CCA406012961BCKDHAc.791G>C (p.Cys264Ser)
c.725G>C (p.Cys242Ser)
n.420G>C
c.893G>C (p.Cys298Ser)
c.704G>C (p.Cys235Ser)
n.419G>C
19g.41422308G>TCA406012962BCKDHAc.791G>T (p.Cys264Phe)
c.725G>T (p.Cys242Phe)
n.420G>T
c.893G>T (p.Cys298Phe)
c.704G>T (p.Cys235Phe)
n.419G>T
19g.41422309C>ACA406012963BCKDHAc.792C>A (p.Cys264Ter)
c.726C>A (p.Cys242Ter)
n.421C>A
c.894C>A (p.Cys298Ter)
c.705C>A (p.Cys235Ter)
n.420C>A
19g.41422309C=CA2336459053BCKDHAc.792C= (p.Cys264=)
c.726C= (p.Cys242=)
n.421C=
c.894C= (p.Cys298=)
c.705C= (p.Cys235=)
n.420C=
19g.41422309C>GCA115521BCKDHAc.792C>G (p.Cys264Trp)
c.726C>G (p.Cys242Trp)
n.421C>G
c.894C>G (p.Cys298Trp)
c.705C>G (p.Cys235Trp)
n.420C>G
 ClinVar dbSNP gnomAD v4
19g.41422309C>TCA507690615BCKDHAc.792C>T (p.Cys264=)
c.726C>T (p.Cys242=)
n.421C>T
c.894C>T (p.Cys298=)
c.705C>T (p.Cys235=)
n.420C>T

Number of alleles fetched