Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11273989C>ACA338691560UBIAD1c.458C>A (p.Ser153Tyr)
c.56C>A (p.Ser19Tyr)
c.101C>A (p.Ser34Tyr)
n.792C>A
1g.11273989C=CA1141936886UBIAD1c.458C= (p.Ser153=)
c.56C= (p.Ser19=)
c.101C= (p.Ser34=)
n.792C=
1g.11273989C>GCA338691559UBIAD1c.458C>G (p.Ser153Cys)
c.56C>G (p.Ser19Cys)
c.101C>G (p.Ser34Cys)
n.792C>G
1g.11273989C>TCA18415494UBIAD1c.458C>T (p.Ser153Phe)
c.56C>T (p.Ser19Phe)
c.101C>T (p.Ser34Phe)
n.792C>T
 dbSNP gnomAD v2 gnomAD v4
1g.11273992delCA2508804072UBIAD1c.461del (p.Pro154LeufsTer2)
c.59del (p.Pro20LeufsTer2)
c.104del (p.Pro35LeufsTer2)
n.795del
1g.11273990C>ACA591152UBIAD1c.459C>A (p.Ser153=)
c.57C>A (p.Ser19=)
c.102C>A (p.Ser34=)
n.793C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11273990C=CA1153587665UBIAD1c.459C= (p.Ser153=)
c.57C= (p.Ser19=)
c.102C= (p.Ser34=)
n.793C=
1g.11273990C>GCA416045363UBIAD1c.459C>G (p.Ser153=)
c.57C>G (p.Ser19=)
c.102C>G (p.Ser34=)
n.793C>G
1g.11273990C>TCA591151UBIAD1c.459C>T (p.Ser153=)
c.57C>T (p.Ser19=)
c.102C>T (p.Ser34=)
n.793C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.11273991C>ACA591153UBIAD1c.460C>A (p.Pro154Thr)
c.58C>A (p.Pro20Thr)
c.103C>A (p.Pro35Thr)
n.794C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11273991C=CA1153587672UBIAD1c.460C= (p.Pro154=)
c.58C= (p.Pro20=)
c.103C= (p.Pro35=)
n.794C=
1g.11273991C>GCA338691561UBIAD1c.460C>G (p.Pro154Ala)
c.58C>G (p.Pro20Ala)
c.103C>G (p.Pro35Ala)
n.794C>G
1g.11273991C>TCA338691562UBIAD1c.460C>T (p.Pro154Ser)
c.58C>T (p.Pro20Ser)
c.103C>T (p.Pro35Ser)
n.794C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.11273992C>ACA338691563UBIAD1c.461C>A (p.Pro154His)
c.59C>A (p.Pro20His)
c.104C>A (p.Pro35His)
n.795C>A
1g.11273992C=CA1153587679UBIAD1c.461C= (p.Pro154=)
c.59C= (p.Pro20=)
c.104C= (p.Pro35=)
n.795C=
1g.11273992C>GCA338691564UBIAD1c.461C>G (p.Pro154Arg)
c.59C>G (p.Pro20Arg)
c.104C>G (p.Pro35Arg)
n.795C>G
1g.11273992C>TCA338691565UBIAD1c.461C>T (p.Pro154Leu)
c.59C>T (p.Pro20Leu)
c.104C>T (p.Pro35Leu)
n.795C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11273993T>ACA416045366UBIAD1c.462T>A (p.Pro154=)
c.60T>A (p.Pro20=)
c.105T>A (p.Pro35=)
n.796T>A
1g.11273993T>CCA416045367UBIAD1c.462T>C (p.Pro154=)
c.60T>C (p.Pro20=)
c.105T>C (p.Pro35=)
n.796T>C
 dbSNP
1g.11273993T>GCA416045368UBIAD1c.462T>G (p.Pro154=)
c.60T>G (p.Pro20=)
c.105T>G (p.Pro35=)
n.796T>G
1g.11273993T=CA1153587681UBIAD1c.462T= (p.Pro154=)
c.60T= (p.Pro20=)
c.105T= (p.Pro35=)
n.796T=
1g.11273994C>ACA338691566UBIAD1c.463C>A (p.Leu155Met)
c.61C>A (p.Leu21Met)
c.106C>A (p.Leu36Met)
n.797C>A
1g.11273994C=CA1153587687UBIAD1c.463C= (p.Leu155=)
c.61C= (p.Leu21=)
c.106C= (p.Leu36=)
n.797C=
1g.11273994C>GCA338691567UBIAD1c.463C>G (p.Leu155Val)
c.61C>G (p.Leu21Val)
c.106C>G (p.Leu36Val)
n.797C>G
 dbSNP gnomAD v2 gnomAD v4
1g.11273994C>TCA416045369UBIAD1c.463C>T (p.Leu155=)
c.61C>T (p.Leu21=)
c.106C>T (p.Leu36=)
n.797C>T
 dbSNP gnomAD v3 gnomAD v4
1g.11273995T>ACA338691568UBIAD1c.464T>A (p.Leu155Gln)
c.62T>A (p.Leu21Gln)
c.107T>A (p.Leu36Gln)
n.798T>A
1g.11273995T>CCA338691569UBIAD1c.464T>C (p.Leu155Pro)
c.62T>C (p.Leu21Pro)
c.107T>C (p.Leu36Pro)
n.798T>C
 gnomAD v3 gnomAD v4
1g.11273995T>GCA338691570UBIAD1c.464T>G (p.Leu155Arg)
c.62T>G (p.Leu21Arg)
c.107T>G (p.Leu36Arg)
n.798T>G
1g.11273996G>ACA416045372UBIAD1c.465G>A (p.Leu155=)
c.63G>A (p.Leu21=)
c.108G>A (p.Leu36=)
n.799G>A
1g.11273996G>CCA416045373UBIAD1c.465G>C (p.Leu155=)
c.63G>C (p.Leu21=)
c.108G>C (p.Leu36=)
n.799G>C
1g.11273996G>TCA416045371UBIAD1c.465G>T (p.Leu155=)
c.63G>T (p.Leu21=)
c.108G>T (p.Leu36=)
n.799G>T
1g.11273997A>CCA338691571UBIAD1c.466A>C (p.Lys156Gln)
c.64A>C (p.Lys22Gln)
c.109A>C (p.Lys37Gln)
n.800A>C
1g.11273997A>GCA338691573UBIAD1c.466A>G (p.Lys156Glu)
c.64A>G (p.Lys22Glu)
c.109A>G (p.Lys37Glu)
n.800A>G
1g.11273997A>TCA338691572UBIAD1c.466A>T (p.Lys156Ter)
c.64A>T (p.Lys22Ter)
c.109A>T (p.Lys37Ter)
n.800A>T
1g.11273998A>CCA338691574UBIAD1c.467A>C (p.Lys156Thr)
c.65A>C (p.Lys22Thr)
c.110A>C (p.Lys37Thr)
n.801A>C
1g.11273998A>GCA338691575UBIAD1c.467A>G (p.Lys156Arg)
c.65A>G (p.Lys22Arg)
c.110A>G (p.Lys37Arg)
n.801A>G
1g.11273998A>TCA338691576UBIAD1c.467A>T (p.Lys156Ile)
c.65A>T (p.Lys22Ile)
c.110A>T (p.Lys37Ile)
n.801A>T
1g.11273999A>CCA338691577UBIAD1c.468A>C (p.Lys156Asn)
c.66A>C (p.Lys22Asn)
c.111A>C (p.Lys37Asn)
n.802A>C
1g.11273999A>GCA416045375UBIAD1c.468A>G (p.Lys156=)
c.66A>G (p.Lys22=)
c.111A>G (p.Lys37=)
n.802A>G
1g.11273999A>TCA338691578UBIAD1c.468A>T (p.Lys156Asn)
c.66A>T (p.Lys22Asn)
c.111A>T (p.Lys37Asn)
n.802A>T
1g.11274000C>ACA338691579UBIAD1c.469C>A (p.Leu157Met)
c.67C>A (p.Leu23Met)
c.112C>A (p.Leu38Met)
n.803C>A
1g.11274000C>GCA338691580UBIAD1c.469C>G (p.Leu157Val)
c.67C>G (p.Leu23Val)
c.112C>G (p.Leu38Val)
n.803C>G
1g.11274000C>TCA416045376UBIAD1c.469C>T (p.Leu157=)
c.67C>T (p.Leu23=)
c.112C>T (p.Leu38=)
n.803C>T
1g.11274001T>ACA338691581UBIAD1c.470T>A (p.Leu157Gln)
c.68T>A (p.Leu23Gln)
c.113T>A (p.Leu38Gln)
n.804T>A
 dbSNP
1g.11274001T>CCA338691582UBIAD1c.470T>C (p.Leu157Pro)
c.68T>C (p.Leu23Pro)
c.113T>C (p.Leu38Pro)
n.804T>C
 gnomAD v4
1g.11274001T>GCA338691583UBIAD1c.470T>G (p.Leu157Arg)
c.68T>G (p.Leu23Arg)
c.113T>G (p.Leu38Arg)
n.804T>G
1g.11274002G>ACA416045377UBIAD1c.471G>A (p.Leu157=)
c.69G>A (p.Leu23=)
c.114G>A (p.Leu38=)
n.805G>A
1g.11274002G>CCA416045379UBIAD1c.471G>C (p.Leu157=)
c.69G>C (p.Leu23=)
c.114G>C (p.Leu38=)
n.805G>C
1g.11274002G>TCA416045378UBIAD1c.471G>T (p.Leu157=)
c.69G>T (p.Leu23=)
c.114G>T (p.Leu38=)
n.805G>T
1g.11274003G>ACA338691585UBIAD1c.472G>A (p.Glu158Lys)
c.70G>A (p.Glu24Lys)
c.115G>A (p.Glu39Lys)
n.806G>A
 dbSNP gnomAD v2 gnomAD v4
1g.11274003G>CCA338691586UBIAD1c.472G>C (p.Glu158Gln)
c.70G>C (p.Glu24Gln)
c.115G>C (p.Glu39Gln)
n.806G>C
 gnomAD v4
1g.11274003G=CA1153587690UBIAD1c.472G= (p.Glu158=)
c.70G= (p.Glu24=)
c.115G= (p.Glu39=)
n.806G=
1g.11274003G>TCA338691584UBIAD1c.472G>T (p.Glu158Ter)
c.70G>T (p.Glu24Ter)
c.115G>T (p.Glu39Ter)
n.806G>T
1g.11274004A>CCA338691589UBIAD1c.473A>C (p.Glu158Ala)
c.71A>C (p.Glu24Ala)
c.116A>C (p.Glu39Ala)
n.807A>C
1g.11274004A>GCA338691587UBIAD1c.473A>G (p.Glu158Gly)
c.71A>G (p.Glu24Gly)
c.116A>G (p.Glu39Gly)
n.807A>G
 gnomAD v4
1g.11274004A>TCA338691588UBIAD1c.473A>T (p.Glu158Val)
c.71A>T (p.Glu24Val)
c.116A>T (p.Glu39Val)
n.807A>T
1g.11274005G>ACA591154UBIAD1c.474G>A (p.Glu158=)
c.72G>A (p.Glu24=)
c.117G>A (p.Glu39=)
n.808G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274005G>CCA338691590UBIAD1c.474G>C (p.Glu158Asp)
c.72G>C (p.Glu24Asp)
c.117G>C (p.Glu39Asp)
n.808G>C
1g.11274005G=CA1144076222UBIAD1c.474G= (p.Glu158=)
c.72G= (p.Glu24=)
c.117G= (p.Glu39=)
n.808G=
1g.11274005G>TCA338691591UBIAD1c.474G>T (p.Glu158Asp)
c.72G>T (p.Glu24Asp)
c.117G>T (p.Glu39Asp)
n.808G>T
 gnomAD v4
1g.11274006C>ACA338691592UBIAD1c.475C>A (p.His159Asn)
c.73C>A (p.His25Asn)
c.118C>A (p.His40Asn)
n.809C>A
1g.11274006C>GCA338691593UBIAD1c.475C>G (p.His159Asp)
c.73C>G (p.His25Asp)
c.118C>G (p.His40Asp)
n.809C>G
1g.11274006C>TCA338691594UBIAD1c.475C>T (p.His159Tyr)
c.73C>T (p.His25Tyr)
c.118C>T (p.His40Tyr)
n.809C>T
1g.11274007A>CCA338691595UBIAD1c.476A>C (p.His159Pro)
c.74A>C (p.His25Pro)
c.119A>C (p.His40Pro)
n.810A>C
1g.11274007A>GCA338691596UBIAD1c.476A>G (p.His159Arg)
c.74A>G (p.His25Arg)
c.119A>G (p.His40Arg)
n.810A>G
1g.11274007A>TCA338691597UBIAD1c.476A>T (p.His159Leu)
c.74A>T (p.His25Leu)
c.119A>T (p.His40Leu)
n.810A>T
1g.11274008C>ACA338691598UBIAD1c.477C>A (p.His159Gln)
c.75C>A (p.His25Gln)
c.120C>A (p.His40Gln)
n.811C>A
1g.11274008C=CA1153587698UBIAD1c.477C= (p.His159=)
c.75C= (p.His25=)
c.120C= (p.His40=)
n.811C=
1g.11274008C>GCA338691599UBIAD1c.477C>G (p.His159Gln)
c.75C>G (p.His25Gln)
c.120C>G (p.His40Gln)
n.811C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11274008C>TCA416045380UBIAD1c.477C>T (p.His159=)
c.75C>T (p.His25=)
c.120C>T (p.His40=)
n.811C>T
1g.11274009T>ACA338691600UBIAD1c.478T>A (p.Leu160Met)
c.76T>A (p.Leu26Met)
c.121T>A (p.Leu41Met)
n.812T>A
1g.11274009T>CCA416045381UBIAD1c.478T>C (p.Leu160=)
c.76T>C (p.Leu26=)
c.121T>C (p.Leu41=)
n.812T>C
 dbSNP gnomAD v2 gnomAD v4
1g.11274009T>GCA338691601UBIAD1c.478T>G (p.Leu160Val)
c.76T>G (p.Leu26Val)
c.121T>G (p.Leu41Val)
n.812T>G
1g.11274009T=CA1153587700UBIAD1c.478T= (p.Leu160=)
c.76T= (p.Leu26=)
c.121T= (p.Leu41=)
n.812T=
1g.11274010T>ACA338691602UBIAD1c.479T>A (p.Leu160Ter)
c.77T>A (p.Leu26Ter)
c.122T>A (p.Leu41Ter)
n.813T>A
1g.11274010T>CCA338691603UBIAD1c.479T>C (p.Leu160Ser)
c.77T>C (p.Leu26Ser)
c.122T>C (p.Leu41Ser)
n.813T>C
1g.11274010T>GCA338691604UBIAD1c.479T>G (p.Leu160Trp)
c.77T>G (p.Leu26Trp)
c.122T>G (p.Leu41Trp)
n.813T>G
1g.11274011G>ACA416045382UBIAD1c.480G>A (p.Leu160=)
c.78G>A (p.Leu26=)
c.123G>A (p.Leu41=)
n.814G>A
1g.11274011G>CCA338691605UBIAD1c.480G>C (p.Leu160Phe)
c.78G>C (p.Leu26Phe)
c.123G>C (p.Leu41Phe)
n.814G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11274011G=CA1153587702UBIAD1c.480G= (p.Leu160=)
c.78G= (p.Leu26=)
c.123G= (p.Leu41=)
n.814G=
1g.11274011G>TCA338691606UBIAD1c.480G>T (p.Leu160Phe)
c.78G>T (p.Leu26Phe)
c.123G>T (p.Leu41Phe)
n.814G>T
1g.11274012G>ACA338691607UBIAD1c.481G>A (p.Ala161Thr)
c.79G>A (p.Ala27Thr)
c.124G>A (p.Ala42Thr)
n.815G>A
1g.11274012G>CCA338691608UBIAD1c.481G>C (p.Ala161Pro)
c.79G>C (p.Ala27Pro)
c.124G>C (p.Ala42Pro)
n.815G>C
1g.11274012G>TCA338691609UBIAD1c.481G>T (p.Ala161Ser)
c.79G>T (p.Ala27Ser)
c.124G>T (p.Ala42Ser)
n.815G>T
1g.11274013C>ACA338691610UBIAD1c.482C>A (p.Ala161Asp)
c.80C>A (p.Ala27Asp)
c.125C>A (p.Ala42Asp)
n.816C>A
1g.11274013C>GCA338691611UBIAD1c.482C>G (p.Ala161Gly)
c.80C>G (p.Ala27Gly)
c.125C>G (p.Ala42Gly)
n.816C>G
1g.11274013C>TCA338691612UBIAD1c.482C>T (p.Ala161Val)
c.80C>T (p.Ala27Val)
c.125C>T (p.Ala42Val)
n.816C>T
 gnomAD v4
1g.11274014T>ACA416045383UBIAD1c.483T>A (p.Ala161=)
c.81T>A (p.Ala27=)
c.126T>A (p.Ala42=)
n.817T>A
1g.11274014T>CCA416045384UBIAD1c.483T>C (p.Ala161=)
c.81T>C (p.Ala27=)
c.126T>C (p.Ala42=)
n.817T>C
1g.11274014T>GCA416045385UBIAD1c.483T>G (p.Ala161=)
c.81T>G (p.Ala27=)
c.126T>G (p.Ala42=)
n.817T>G
1g.11274015C>ACA338691614UBIAD1c.484C>A (p.Leu162Ile)
c.82C>A (p.Leu28Ile)
c.127C>A (p.Leu43Ile)
n.818C>A
 gnomAD v4
1g.11274015C>GCA338691615UBIAD1c.484C>G (p.Leu162Val)
c.82C>G (p.Leu28Val)
c.127C>G (p.Leu43Val)
n.818C>G
1g.11274015C>TCA338691613UBIAD1c.484C>T (p.Leu162Phe)
c.82C>T (p.Leu28Phe)
c.127C>T (p.Leu43Phe)
n.818C>T
1g.11274016T>ACA338691616UBIAD1c.485T>A (p.Leu162His)
c.83T>A (p.Leu28His)
c.128T>A (p.Leu43His)
n.819T>A
1g.11274016T>CCA591155UBIAD1c.485T>C (p.Leu162Pro)
c.83T>C (p.Leu28Pro)
c.128T>C (p.Leu43Pro)
n.819T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274016T>GCA338691617UBIAD1c.485T>G (p.Leu162Arg)
c.83T>G (p.Leu28Arg)
c.128T>G (p.Leu43Arg)
n.819T>G
1g.11274016T=CA1141786016UBIAD1c.485T= (p.Leu162=)
c.83T= (p.Leu28=)
c.128T= (p.Leu43=)
n.819T=
1g.11274017T>ACA416045388UBIAD1c.486T>A (p.Leu162=)
c.84T>A (p.Leu28=)
c.129T>A (p.Leu43=)
n.820T>A
1g.11274017T>CCA416045387UBIAD1c.486T>C (p.Leu162=)
c.84T>C (p.Leu28=)
c.129T>C (p.Leu43=)
n.820T>C
1g.11274017T>GCA416045386UBIAD1c.486T>G (p.Leu162=)
c.84T>G (p.Leu28=)
c.129T>G (p.Leu43=)
n.820T>G
1g.11274018A=CA1153587704UBIAD1c.487A= (p.Ile163=)
c.85A= (p.Ile29=)
c.130A= (p.Ile44=)
n.821A=
1g.11274018A>CCA338691618UBIAD1c.487A>C (p.Ile163Leu)
c.85A>C (p.Ile29Leu)
c.130A>C (p.Ile44Leu)
n.821A>C
1g.11274018A>GCA338691619UBIAD1c.487A>G (p.Ile163Val)
c.85A>G (p.Ile29Val)
c.130A>G (p.Ile44Val)
n.821A>G
1g.11274018A>TCA591156UBIAD1c.487A>T (p.Ile163Phe)
c.85A>T (p.Ile29Phe)
c.130A>T (p.Ile44Phe)
n.821A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274019T>ACA338691621UBIAD1c.488T>A (p.Ile163Asn)
c.86T>A (p.Ile29Asn)
c.131T>A (p.Ile44Asn)
n.822T>A
 gnomAD v4
1g.11274019T>CCA591157UBIAD1c.488T>C (p.Ile163Thr)
c.86T>C (p.Ile29Thr)
c.131T>C (p.Ile44Thr)
n.822T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274019T>GCA338691620UBIAD1c.488T>G (p.Ile163Ser)
c.86T>G (p.Ile29Ser)
c.131T>G (p.Ile44Ser)
n.822T>G
1g.11274019T=CA1153587709UBIAD1c.488T= (p.Ile163=)
c.86T= (p.Ile29=)
c.131T= (p.Ile44=)
n.822T=
1g.11274020C>ACA416045389UBIAD1c.489C>A (p.Ile163=)
c.87C>A (p.Ile29=)
c.132C>A (p.Ile44=)
n.823C>A
1g.11274020C=CA1148279814UBIAD1c.489C= (p.Ile163=)
c.87C= (p.Ile29=)
c.132C= (p.Ile44=)
n.823C=
1g.11274020C>GCA338691622UBIAD1c.489C>G (p.Ile163Met)
c.87C>G (p.Ile29Met)
c.132C>G (p.Ile44Met)
n.823C>G
 dbSNP
1g.11274020C>TCA591158UBIAD1c.489C>T (p.Ile163=)
c.87C>T (p.Ile29=)
c.132C>T (p.Ile44=)
n.823C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274021T>ACA338691623UBIAD1c.490T>A (p.Tyr164Asn)
c.88T>A (p.Tyr30Asn)
c.133T>A (p.Tyr45Asn)
n.824T>A
1g.11274021T>CCA338691624UBIAD1c.490T>C (p.Tyr164His)
c.88T>C (p.Tyr30His)
c.133T>C (p.Tyr45His)
n.824T>C
1g.11274021T>GCA338691625UBIAD1c.490T>G (p.Tyr164Asp)
c.88T>G (p.Tyr30Asp)
c.133T>G (p.Tyr45Asp)
n.824T>G
1g.11274022A=CA1153587717UBIAD1c.491A= (p.Tyr164=)
c.89A= (p.Tyr30=)
c.134A= (p.Tyr45=)
n.825A=
1g.11274022A>CCA338691626UBIAD1c.491A>C (p.Tyr164Ser)
c.89A>C (p.Tyr30Ser)
c.134A>C (p.Tyr45Ser)
n.825A>C
1g.11274022A>GCA338691627UBIAD1c.491A>G (p.Tyr164Cys)
c.89A>G (p.Tyr30Cys)
c.134A>G (p.Tyr45Cys)
n.825A>G
 dbSNP gnomAD v3 gnomAD v4
1g.11274022A>TCA591159UBIAD1c.491A>T (p.Tyr164Phe)
c.89A>T (p.Tyr30Phe)
c.134A>T (p.Tyr45Phe)
n.825A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274023C>ACA338691628UBIAD1c.492C>A (p.Tyr164Ter)
c.90C>A (p.Tyr30Ter)
c.135C>A (p.Tyr45Ter)
n.826C>A
1g.11274023C=CA1153587720UBIAD1c.492C= (p.Tyr164=)
c.90C= (p.Tyr30=)
c.135C= (p.Tyr45=)
n.826C=
1g.11274023C>GCA338691629UBIAD1c.492C>G (p.Tyr164Ter)
c.90C>G (p.Tyr30Ter)
c.135C>G (p.Tyr45Ter)
n.826C>G
1g.11274023C>TCA416045390UBIAD1c.492C>T (p.Tyr164=)
c.90C>T (p.Tyr30=)
c.135C>T (p.Tyr45=)
n.826C>T
1g.11274024T>ACA338691630UBIAD1c.493T>A (p.Phe165Ile)
c.91T>A (p.Phe31Ile)
c.136T>A (p.Phe46Ile)
n.827T>A
1g.11274024T>CCA338691631UBIAD1c.493T>C (p.Phe165Leu)
c.91T>C (p.Phe31Leu)
c.136T>C (p.Phe46Leu)
n.827T>C
1g.11274024T>GCA338691632UBIAD1c.493T>G (p.Phe165Val)
c.91T>G (p.Phe31Val)
c.136T>G (p.Phe46Val)
n.827T>G
1g.11274026dupCA1153587721UBIAD1c.495dup (p.Gly166TrpfsTer?)
c.93dup (p.Gly32TrpfsTer?)
c.138dup (p.Gly47TrpfsTer?)
n.829dup
 dbSNP
1g.11274025T>ACA338691633UBIAD1c.494T>A (p.Phe165Tyr)
c.92T>A (p.Phe31Tyr)
c.137T>A (p.Phe46Tyr)
n.828T>A
1g.11274025T>CCA338691634UBIAD1c.494T>C (p.Phe165Ser)
c.92T>C (p.Phe31Ser)
c.137T>C (p.Phe46Ser)
n.828T>C
 gnomAD v4
1g.11274025T>GCA10607380UBIAD1c.494T>G (p.Phe165Cys)
c.92T>G (p.Phe31Cys)
c.137T>G (p.Phe46Cys)
n.828T>G
 ClinVar dbSNP
1g.11274025T=CA1153587726UBIAD1c.494T= (p.Phe165=)
c.92T= (p.Phe31=)
c.137T= (p.Phe46=)
n.828T=
1g.11274026T>ACA338691635UBIAD1c.495T>A (p.Phe165Leu)
c.93T>A (p.Phe31Leu)
c.138T>A (p.Phe46Leu)
n.829T>A
1g.11274026T>CCA416045391UBIAD1c.495T>C (p.Phe165=)
c.93T>C (p.Phe31=)
c.138T>C (p.Phe46=)
n.829T>C
1g.11274026T>GCA338691636UBIAD1c.495T>G (p.Phe165Leu)
c.93T>G (p.Phe31Leu)
c.138T>G (p.Phe46Leu)
n.829T>G
1g.11274027G>ACA338691637UBIAD1c.496G>A (p.Gly166Arg)
c.94G>A (p.Gly32Arg)
c.139G>A (p.Gly47Arg)
n.830G>A
1g.11274027G>CCA338691638UBIAD1c.496G>C (p.Gly166Arg)
c.94G>C (p.Gly32Arg)
c.139G>C (p.Gly47Arg)
n.830G>C
1g.11274027G>TCA338691639UBIAD1c.496G>T (p.Gly166Ter)
c.94G>T (p.Gly32Ter)
c.139G>T (p.Gly47Ter)
n.830G>T
1g.11274028G>ACA338691641UBIAD1c.497G>A (p.Gly166Glu)
c.95G>A (p.Gly32Glu)
c.140G>A (p.Gly47Glu)
n.831G>A
1g.11274028G>CCA591160UBIAD1c.497G>C (p.Gly166Ala)
c.95G>C (p.Gly32Ala)
c.140G>C (p.Gly47Ala)
n.831G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274028G=CA1153587731UBIAD1c.497G= (p.Gly166=)
c.95G= (p.Gly32=)
c.140G= (p.Gly47=)
n.831G=
1g.11274028G>TCA338691640UBIAD1c.497G>T (p.Gly166Val)
c.95G>T (p.Gly32Val)
c.140G>T (p.Gly47Val)
n.831G>T
1g.11274029A>CCA416045392UBIAD1c.498A>C (p.Gly166=)
c.96A>C (p.Gly32=)
c.141A>C (p.Gly47=)
n.832A>C
1g.11274029A>GCA416045393UBIAD1c.498A>G (p.Gly166=)
c.96A>G (p.Gly32=)
c.141A>G (p.Gly47=)
n.832A>G
1g.11274029A>TCA416045394UBIAD1c.498A>T (p.Gly166=)
c.96A>T (p.Gly32=)
c.141A>T (p.Gly47=)
n.832A>T
1g.11274030G>ACA338691644UBIAD1c.499G>A (p.Gly167Ser)
c.97G>A (p.Gly33Ser)
c.142G>A (p.Gly48Ser)
n.833G>A
1g.11274030G>CCA338691642UBIAD1c.499G>C (p.Gly167Arg)
c.97G>C (p.Gly33Arg)
c.142G>C (p.Gly48Arg)
n.833G>C
1g.11274030G>TCA338691643UBIAD1c.499G>T (p.Gly167Cys)
c.97G>T (p.Gly33Cys)
c.142G>T (p.Gly48Cys)
n.833G>T
1g.11274031G>ACA338691645UBIAD1c.500G>A (p.Gly167Asp)
c.98G>A (p.Gly33Asp)
c.143G>A (p.Gly48Asp)
n.834G>A
1g.11274031G>CCA338691646UBIAD1c.500G>C (p.Gly167Ala)
c.98G>C (p.Gly33Ala)
c.143G>C (p.Gly48Ala)
n.834G>C
1g.11274031G>TCA338691647UBIAD1c.500G>T (p.Gly167Val)
c.98G>T (p.Gly33Val)
c.143G>T (p.Gly48Val)
n.834G>T
1g.11274032C>ACA18415495UBIAD1c.501C>A (p.Gly167=)
c.99C>A (p.Gly33=)
c.144C>A (p.Gly48=)
n.835C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11274032C=CA1153587737UBIAD1c.501C= (p.Gly167=)
c.99C= (p.Gly33=)
c.144C= (p.Gly48=)
n.835C=
1g.11274032C>GCA18415496UBIAD1c.501C>G (p.Gly167=)
c.99C>G (p.Gly33=)
c.144C>G (p.Gly48=)
n.835C>G
 dbSNP gnomAD v4
1g.11274032C>TCA416045395UBIAD1c.501C>T (p.Gly167=)
c.99C>T (p.Gly33=)
c.144C>T (p.Gly48=)
n.835C>T
1g.11274033C>ACA338691648UBIAD1c.502C>A (p.Leu168Met)
c.100C>A (p.Leu34Met)
c.145C>A (p.Leu49Met)
n.836C>A
1g.11274033C=CA1153587740UBIAD1c.502C= (p.Leu168=)
c.100C= (p.Leu34=)
c.145C= (p.Leu49=)
n.836C=
1g.11274033C>GCA338691649UBIAD1c.502C>G (p.Leu168Val)
c.100C>G (p.Leu34Val)
c.145C>G (p.Leu49Val)
n.836C>G
1g.11274033C>TCA416045396UBIAD1c.502C>T (p.Leu168=)
c.100C>T (p.Leu34=)
c.145C>T (p.Leu49=)
n.836C>T
 dbSNP gnomAD v4
1g.11274034T>ACA338691650UBIAD1c.503T>A (p.Leu168Gln)
c.101T>A (p.Leu34Gln)
c.146T>A (p.Leu49Gln)
n.837T>A
1g.11274034T>CCA338691651UBIAD1c.503T>C (p.Leu168Pro)
c.101T>C (p.Leu34Pro)
c.146T>C (p.Leu49Pro)
n.837T>C
1g.11274034T>GCA338691652UBIAD1c.503T>G (p.Leu168Arg)
c.101T>G (p.Leu34Arg)
c.146T>G (p.Leu49Arg)
n.837T>G
1g.11274035G>ACA416045397UBIAD1c.504G>A (p.Leu168=)
c.102G>A (p.Leu34=)
c.147G>A (p.Leu49=)
n.838G>A
 dbSNP
1g.11274035G>CCA416045398UBIAD1c.504G>C (p.Leu168=)
c.102G>C (p.Leu34=)
c.147G>C (p.Leu49=)
n.838G>C
 gnomAD v4
1g.11274035G=CA1153587742UBIAD1c.504G= (p.Leu168=)
c.102G= (p.Leu34=)
c.147G= (p.Leu49=)
n.838G=
1g.11274035G>TCA416045399UBIAD1c.504G>T (p.Leu168=)
c.102G>T (p.Leu34=)
c.147G>T (p.Leu49=)
n.838G>T
 gnomAD v4
1g.11274036T>ACA338691653UBIAD1c.505T>A (p.Ser169Thr)
c.103T>A (p.Ser35Thr)
c.148T>A (p.Ser50Thr)
n.839T>A
1g.11274036T>CCA338691654UBIAD1c.505T>C (p.Ser169Pro)
c.103T>C (p.Ser35Pro)
c.148T>C (p.Ser50Pro)
n.839T>C
 dbSNP
1g.11274036T>GCA338691655UBIAD1c.505T>G (p.Ser169Ala)
c.103T>G (p.Ser35Ala)
c.148T>G (p.Ser50Ala)
n.839T>G
1g.11274036T=CA1153587745UBIAD1c.505T= (p.Ser169=)
c.103T= (p.Ser35=)
c.148T= (p.Ser50=)
n.839T=
1g.11274037C>ACA338691658UBIAD1c.506C>A (p.Ser169Tyr)
c.104C>A (p.Ser35Tyr)
c.149C>A (p.Ser50Tyr)
n.840C>A
1g.11274037C=CA1153587747UBIAD1c.506C= (p.Ser169=)
c.104C= (p.Ser35=)
c.149C= (p.Ser50=)
n.840C=
1g.11274037C>GCA338691657UBIAD1c.506C>G (p.Ser169Cys)
c.104C>G (p.Ser35Cys)
c.149C>G (p.Ser50Cys)
n.840C>G
1g.11274037C>TCA338691656UBIAD1c.506C>T (p.Ser169Phe)
c.104C>T (p.Ser35Phe)
c.149C>T (p.Ser50Phe)
n.840C>T
 dbSNP
1g.11274038T>ACA416045401UBIAD1c.507T>A (p.Ser169=)
c.105T>A (p.Ser35=)
c.150T>A (p.Ser50=)
n.841T>A
1g.11274038T>CCA416045402UBIAD1c.507T>C (p.Ser169=)
c.105T>C (p.Ser35=)
c.150T>C (p.Ser50=)
n.841T>C
1g.11274038T>GCA416045400UBIAD1c.507T>G (p.Ser169=)
c.105T>G (p.Ser35=)
c.150T>G (p.Ser50=)
n.841T>G
1g.11274039G>ACA338691659UBIAD1c.508G>A (p.Gly170Ser)
c.106G>A (p.Gly36Ser)
c.151G>A (p.Gly51Ser)
n.842G>A
 gnomAD v4
1g.11274039G>CCA338691660UBIAD1c.508G>C (p.Gly170Arg)
c.106G>C (p.Gly36Arg)
c.151G>C (p.Gly51Arg)
n.842G>C
1g.11274039G>TCA338691661UBIAD1c.508G>T (p.Gly170Cys)
c.106G>T (p.Gly36Cys)
c.151G>T (p.Gly51Cys)
n.842G>T
1g.11274040G>ACA338691662UBIAD1c.509G>A (p.Gly170Asp)
c.107G>A (p.Gly36Asp)
c.152G>A (p.Gly51Asp)
n.843G>A
1g.11274040G>CCA338691663UBIAD1c.509G>C (p.Gly170Ala)
c.107G>C (p.Gly36Ala)
c.152G>C (p.Gly51Ala)
n.843G>C
1g.11274040G=CA1153587753UBIAD1c.509G= (p.Gly170=)
c.107G= (p.Gly36=)
c.152G= (p.Gly51=)
n.843G=
1g.11274040G>TCA338691664UBIAD1c.509G>T (p.Gly170Val)
c.107G>T (p.Gly36Val)
c.152G>T (p.Gly51Val)
n.843G>T
 dbSNP gnomAD v2 gnomAD v4
1g.11274041C>ACA416045404UBIAD1c.510C>A (p.Gly170=)
c.108C>A (p.Gly36=)
c.153C>A (p.Gly51=)
n.844C>A
1g.11274041C=CA1149062316UBIAD1c.510C= (p.Gly170=)
c.108C= (p.Gly36=)
c.153C= (p.Gly51=)
n.844C=
1g.11274041C>GCA416045403UBIAD1c.510C>G (p.Gly170=)
c.108C>G (p.Gly36=)
c.153C>G (p.Gly51=)
n.844C>G
1g.11274041C>TCA591161UBIAD1c.510C>T (p.Gly170=)
c.108C>T (p.Gly36=)
c.153C>T (p.Gly51=)
n.844C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274042T>ACA338691665UBIAD1c.511T>A (p.Ser171Thr)
c.109T>A (p.Ser37Thr)
c.154T>A (p.Ser52Thr)
n.845T>A
1g.11274042T>CCA114581UBIAD1c.511T>C (p.Ser171Pro)
c.109T>C (p.Ser37Pro)
c.154T>C (p.Ser52Pro)
n.845T>C
 ClinVar dbSNP
1g.11274042T>GCA338691666UBIAD1c.511T>G (p.Ser171Ala)
c.109T>G (p.Ser37Ala)
c.154T>G (p.Ser52Ala)
n.845T>G
1g.11274042T=CA1141579587UBIAD1c.511T= (p.Ser171=)
c.109T= (p.Ser37=)
c.154T= (p.Ser52=)
n.845T=
1g.11274043C>ACA338691667UBIAD1c.512C>A (p.Ser171Tyr)
c.110C>A (p.Ser37Tyr)
c.155C>A (p.Ser52Tyr)
n.846C>A
1g.11274043C>GCA338691668UBIAD1c.512C>G (p.Ser171Cys)
c.110C>G (p.Ser37Cys)
c.155C>G (p.Ser52Cys)
n.846C>G
1g.11274043C>TCA338691669UBIAD1c.512C>T (p.Ser171Phe)
c.110C>T (p.Ser37Phe)
c.155C>T (p.Ser52Phe)
n.846C>T
1g.11274044C>ACA416045405UBIAD1c.513C>A (p.Ser171=)
c.111C>A (p.Ser37=)
c.156C>A (p.Ser52=)
n.847C>A
1g.11274044C>GCA416045407UBIAD1c.513C>G (p.Ser171=)
c.111C>G (p.Ser37=)
c.156C>G (p.Ser52=)
n.847C>G
1g.11274044C>TCA416045406UBIAD1c.513C>T (p.Ser171=)
c.111C>T (p.Ser37=)
c.156C>T (p.Ser52=)
n.847C>T
1g.11274045T>ACA338691671UBIAD1c.514T>A (p.Phe172Ile)
c.112T>A (p.Phe38Ile)
c.157T>A (p.Phe53Ile)
n.848T>A
1g.11274045T>CCA338691672UBIAD1c.514T>C (p.Phe172Leu)
c.112T>C (p.Phe38Leu)
c.157T>C (p.Phe53Leu)
n.848T>C
1g.11274045T>GCA338691670UBIAD1c.514T>G (p.Phe172Val)
c.112T>G (p.Phe38Val)
c.157T>G (p.Phe53Val)
n.848T>G
 gnomAD v4
1g.11274046T>ACA338691673UBIAD1c.515T>A (p.Phe172Tyr)
c.113T>A (p.Phe38Tyr)
c.158T>A (p.Phe53Tyr)
n.849T>A
1g.11274046T>CCA338691674UBIAD1c.515T>C (p.Phe172Ser)
c.113T>C (p.Phe38Ser)
c.158T>C (p.Phe53Ser)
n.849T>C
1g.11274046T>GCA338691675UBIAD1c.515T>G (p.Phe172Cys)
c.113T>G (p.Phe38Cys)
c.158T>G (p.Phe53Cys)
n.849T>G
1g.11274047T>ACA338691676UBIAD1c.516T>A (p.Phe172Leu)
c.114T>A (p.Phe38Leu)
c.159T>A (p.Phe53Leu)
n.850T>A
1g.11274047T>CCA416045408UBIAD1c.516T>C (p.Phe172=)
c.114T>C (p.Phe38=)
c.159T>C (p.Phe53=)
n.850T>C
1g.11274047T>GCA338691677UBIAD1c.516T>G (p.Phe172Leu)
c.114T>G (p.Phe38Leu)
c.159T>G (p.Phe53Leu)
n.850T>G
1g.11274048C>ACA338691678UBIAD1c.517C>A (p.Leu173Ile)
c.115C>A (p.Leu39Ile)
c.160C>A (p.Leu54Ile)
n.851C>A
1g.11274048C>GCA338691679UBIAD1c.517C>G (p.Leu173Val)
c.115C>G (p.Leu39Val)
c.160C>G (p.Leu54Val)
n.851C>G
1g.11274048C>TCA338691680UBIAD1c.517C>T (p.Leu173Phe)
c.115C>T (p.Leu39Phe)
c.160C>T (p.Leu54Phe)
n.851C>T
1g.11274049T>ACA338691681UBIAD1c.518T>A (p.Leu173His)
c.116T>A (p.Leu39His)
c.161T>A (p.Leu54His)
n.852T>A
1g.11274049T>CCA338691682UBIAD1c.518T>C (p.Leu173Pro)
c.116T>C (p.Leu39Pro)
c.161T>C (p.Leu54Pro)
n.852T>C
1g.11274049T>GCA338691683UBIAD1c.518T>G (p.Leu173Arg)
c.116T>G (p.Leu39Arg)
c.161T>G (p.Leu54Arg)
n.852T>G
1g.11274050C>ACA416045409UBIAD1c.519C>A (p.Leu173=)
c.117C>A (p.Leu39=)
c.162C>A (p.Leu54=)
n.853C>A
1g.11274050C=CA1143091150UBIAD1c.519C= (p.Leu173=)
c.117C= (p.Leu39=)
c.162C= (p.Leu54=)
n.853C=
1g.11274050C>GCA416045410UBIAD1c.519C>G (p.Leu173=)
c.117C>G (p.Leu39=)
c.162C>G (p.Leu54=)
n.853C>G
 gnomAD v4
1g.11274050C>TCA591162UBIAD1c.519C>T (p.Leu173=)
c.117C>T (p.Leu39=)
c.162C>T (p.Leu54=)
n.853C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274051T>ACA338691686UBIAD1c.520T>A (p.Tyr174Asn)
c.118T>A (p.Tyr40Asn)
c.163T>A (p.Tyr55Asn)
n.854T>A
1g.11274051T>CCA338691684UBIAD1c.520T>C (p.Tyr174His)
c.118T>C (p.Tyr40His)
c.163T>C (p.Tyr55His)
n.854T>C
 dbSNP
1g.11274051T>GCA338691685UBIAD1c.520T>G (p.Tyr174Asp)
c.118T>G (p.Tyr40Asp)
c.163T>G (p.Tyr55Asp)
n.854T>G
1g.11274051T=CA1153587770UBIAD1c.520T= (p.Tyr174=)
c.118T= (p.Tyr40=)
c.163T= (p.Tyr55=)
n.854T=
1g.11274051_11274053delinsTACCA1153587768UBIAD1c.520_522delinsTAC (p.Tyr174=)
c.118_120delinsTAC (p.Tyr40=)
c.163_165delinsTAC (p.Tyr55=)
n.854_856delinsTAC
1g.11274052A>CCA338691687UBIAD1c.521A>C (p.Tyr174Ser)
c.119A>C (p.Tyr40Ser)
c.164A>C (p.Tyr55Ser)
n.855A>C
1g.11274052A>GCA338691688UBIAD1c.521A>G (p.Tyr174Cys)
c.119A>G (p.Tyr40Cys)
c.164A>G (p.Tyr55Cys)
n.855A>G
1g.11274052A>TCA338691689UBIAD1c.521A>T (p.Tyr174Phe)
c.119A>T (p.Tyr40Phe)
c.164A>T (p.Tyr55Phe)
n.855A>T
1g.11274055_11274056delCA591163UBIAD1c.524_525del (p.Thr175ArgfsTer?)
c.524_525del (p.Thr175ArgfsTer26)
c.122_123del (p.Thr41ArgfsTer?)
c.167_168del (p.Thr56ArgfsTer?)
n.858_859del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274053C>ACA338691690UBIAD1c.522C>A (p.Tyr174Ter)
c.120C>A (p.Tyr40Ter)
c.165C>A (p.Tyr55Ter)
n.856C>A
1g.11274053C>GCA338691691UBIAD1c.522C>G (p.Tyr174Ter)
c.120C>G (p.Tyr40Ter)
c.165C>G (p.Tyr55Ter)
n.856C>G
1g.11274053C>TCA416045411UBIAD1c.522C>T (p.Tyr174=)
c.120C>T (p.Tyr40=)
c.165C>T (p.Tyr55=)
n.856C>T
1g.11274054A>CCA338691692UBIAD1c.523A>C (p.Thr175Pro)
c.121A>C (p.Thr41Pro)
c.166A>C (p.Thr56Pro)
n.857A>C
1g.11274054A>GCA338691693UBIAD1c.523A>G (p.Thr175Ala)
c.121A>G (p.Thr41Ala)
c.166A>G (p.Thr56Ala)
n.857A>G
1g.11274054A>TCA338691694UBIAD1c.523A>T (p.Thr175Ser)
c.121A>T (p.Thr41Ser)
c.166A>T (p.Thr56Ser)
n.857A>T
1g.11274055C>ACA338691695UBIAD1c.524C>A (p.Thr175Lys)
c.122C>A (p.Thr41Lys)
c.167C>A (p.Thr56Lys)
n.858C>A
1g.11274055C=CA1141579588UBIAD1c.524C= (p.Thr175=)
c.122C= (p.Thr41=)
c.167C= (p.Thr56=)
n.858C=
1g.11274055C>GCA338691696UBIAD1c.524C>G (p.Thr175Arg)
c.122C>G (p.Thr41Arg)
c.167C>G (p.Thr56Arg)
n.858C>G
1g.11274055C>TCA114578UBIAD1c.524C>T (p.Thr175Ile)
c.122C>T (p.Thr41Ile)
c.167C>T (p.Thr56Ile)
n.858C>T
 ClinVar dbSNP
1g.11274056A>CCA416045412UBIAD1c.525A>C (p.Thr175=)
c.123A>C (p.Thr41=)
c.168A>C (p.Thr56=)
n.859A>C
1g.11274056A>GCA416045413UBIAD1c.525A>G (p.Thr175=)
c.123A>G (p.Thr41=)
c.168A>G (p.Thr56=)
n.859A>G
1g.11274056A>TCA416045414UBIAD1c.525A>T (p.Thr175=)
c.123A>T (p.Thr41=)
c.168A>T (p.Thr56=)
n.859A>T
1g.11274057G>ACA338691698UBIAD1c.526G>A (p.Gly176Arg)
c.124G>A (p.Gly42Arg)
c.169G>A (p.Gly57Arg)
n.860G>A
1g.11274057G>CCA338691699UBIAD1c.526G>C (p.Gly176Arg)
c.124G>C (p.Gly42Arg)
c.169G>C (p.Gly57Arg)
n.860G>C
1g.11274057G>TCA338691697UBIAD1c.526G>T (p.Gly176Ter)
c.124G>T (p.Gly42Ter)
c.169G>T (p.Gly57Ter)
n.860G>T
1g.11274058G>ACA338691702UBIAD1c.527G>A (p.Gly176Glu)
c.125G>A (p.Gly42Glu)
c.170G>A (p.Gly57Glu)
n.861G>A
 COSMIC
1g.11274058G>CCA338691700UBIAD1c.527G>C (p.Gly176Ala)
c.125G>C (p.Gly42Ala)
c.170G>C (p.Gly57Ala)
n.861G>C
1g.11274058G>TCA338691701UBIAD1c.527G>T (p.Gly176Val)
c.125G>T (p.Gly42Val)
c.170G>T (p.Gly57Val)
n.861G>T
1g.11274059A>CCA416045416UBIAD1c.528A>C (p.Gly176=)
c.126A>C (p.Gly42=)
c.171A>C (p.Gly57=)
n.862A>C
1g.11274059A>GCA416045417UBIAD1c.528A>G (p.Gly176=)
c.126A>G (p.Gly42=)
c.171A>G (p.Gly57=)
n.862A>G
 gnomAD v4
1g.11274059A>TCA416045415UBIAD1c.528A>T (p.Gly176=)
c.126A>T (p.Gly42=)
c.171A>T (p.Gly57=)
n.862A>T
 gnomAD v4
1g.11274060G>ACA338691703UBIAD1c.529G>A (p.Gly177Arg)
c.529G>A (p.Val177Ile)
c.127G>A (p.Gly43Arg)
c.172G>A (p.Gly58Arg)
n.863G>A
1g.11274060G>CCA114576UBIAD1c.529G>C (p.Gly177Arg)
c.529G>C (p.Val177Leu)
c.127G>C (p.Gly43Arg)
c.172G>C (p.Gly58Arg)
n.863G>C
 ClinVar dbSNP
1g.11274060G=CA1141579589UBIAD1c.529G= (p.Gly177=)
c.529G= (p.Val177=)
c.127G= (p.Gly43=)
c.172G= (p.Gly58=)
n.863G=
1g.11274060G>TCA338691704UBIAD1c.529G>T (p.Gly177Ter)
c.529G>T (p.Val177Phe)
c.127G>T (p.Gly43Ter)
c.172G>T (p.Gly58Ter)
n.863G>T
1g.11274061G>ACA338691705UBIAD1c.529+1G>A (n.529+1G>A)
c.127+1G>A (n.127+1G>A)
c.172+1G>A (n.172+1G>A)
n.863+1G>A
1g.11274061G>CCA338691706UBIAD1c.529+1G>C (n.529+1G>C)
c.127+1G>C (n.127+1G>C)
c.172+1G>C (n.172+1G>C)
n.863+1G>C
1g.11274061G>TCA338691707UBIAD1c.529+1G>T (n.529+1G>T)
c.127+1G>T (n.127+1G>T)
c.172+1G>T (n.172+1G>T)
n.863+1G>T
1g.11274062T>ACA338691708UBIAD1c.529+2T>A (n.529+2T>A)
c.127+2T>A (n.127+2T>A)
c.172+2T>A (n.172+2T>A)
n.863+2T>A
1g.11274062T>CCA338691709UBIAD1c.529+2T>C (n.529+2T>C)
c.127+2T>C (n.127+2T>C)
c.172+2T>C (n.172+2T>C)
n.863+2T>C
1g.11274062T>GCA338691710UBIAD1c.529+2T>G (n.529+2T>G)
c.127+2T>G (n.127+2T>G)
c.172+2T>G (n.172+2T>G)
n.863+2T>G
 dbSNP
1g.11274062T=CA1153587777UBIAD1c.529+2T= (n.529+2T=)
c.127+2T= (n.127+2T=)
c.172+2T= (n.172+2T=)
n.863+2T=
1g.11274063A=CA1153587784UBIAD1c.529+3A= (n.529+3A=)
c.127+3A= (n.127+3A=)
c.172+3A= (n.172+3A=)
n.863+3A=
1g.11274063A>GCA1153587780UBIAD1c.529+3A>G (n.529+3A>G)
c.127+3A>G (n.127+3A>G)
c.172+3A>G (n.172+3A>G)
n.863+3A>G
 dbSNP
1g.11274065G>ACA2643253526UBIAD1c.529+5G>A (n.529+5G>A)
c.127+5G>A (n.127+5G>A)
c.172+5G>A (n.172+5G>A)
n.863+5G>A
 gnomAD v4
1g.11274069T>CCA1153587787UBIAD1c.529+9T>C (n.529+9T>C)
c.127+9T>C (n.127+9T>C)
c.172+9T>C (n.172+9T>C)
n.863+9T>C
 dbSNP
1g.11274069T=CA1153587786UBIAD1c.529+9T= (n.529+9T=)
c.127+9T= (n.127+9T=)
c.172+9T= (n.172+9T=)
n.863+9T=
1g.11274070G>ACA591164UBIAD1c.529+10G>A (n.529+10G>A)
c.127+10G>A (n.127+10G>A)
c.172+10G>A (n.172+10G>A)
n.863+10G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11274070G=CA1153587790UBIAD1c.529+10G= (n.529+10G=)
c.127+10G= (n.127+10G=)
c.172+10G= (n.172+10G=)
n.863+10G=
1g.11274073C=CA1153587795UBIAD1c.529+13C= (n.529+13C=)
c.127+13C= (n.127+13C=)
c.172+13C= (n.172+13C=)
n.863+13C=
1g.11274073C>GCA18415497UBIAD1c.529+13C>G (n.529+13C>G)
c.127+13C>G (n.127+13C>G)
c.172+13C>G (n.172+13C>G)
n.863+13C>G
 dbSNP
1g.11274073C>TCA521464596UBIAD1c.529+13C>T (n.529+13C>T)
c.127+13C>T (n.127+13C>T)
c.172+13C>T (n.172+13C>T)
n.863+13C>T
 dbSNP gnomAD v2 gnomAD v4
1g.11274073_11274074delinsCTCA1153587800UBIAD1c.529+13_529+14delinsCT (n.529+13_529+14delinsCT)
c.127+13_127+14delinsCT (n.127+13_127+14delinsCT)
c.172+13_172+14delinsCT (n.172+13_172+14delinsCT)
n.863+13_863+14delinsCT
1g.11274074delCA885581713UBIAD1c.529+14del (n.529+14del)
c.127+14del (n.127+14del)
c.172+14del (n.172+14del)
n.863+14del
 dbSNP gnomAD v3 gnomAD v4
1g.11274074T>GCA18415498UBIAD1c.529+14T>G (n.529+14T>G)
c.127+14T>G (n.127+14T>G)
c.172+14T>G (n.172+14T>G)
n.863+14T>G
 dbSNP
1g.11274074T=CA1153587801UBIAD1c.529+14T= (n.529+14T=)
c.127+14T= (n.127+14T=)
c.172+14T= (n.172+14T=)
n.863+14T=
1g.11274075G>ACA521464597UBIAD1c.529+15G>A (n.529+15G>A)
c.127+15G>A (n.127+15G>A)
c.172+15G>A (n.172+15G>A)
n.863+15G>A
 dbSNP gnomAD v2 gnomAD v4
1g.11274075G=CA1153587804UBIAD1c.529+15G= (n.529+15G=)
c.127+15G= (n.127+15G=)
c.172+15G= (n.172+15G=)
n.863+15G=
1g.11274077C>ACA2643253539UBIAD1c.529+17C>A (n.529+17C>A)
c.127+17C>A (n.127+17C>A)
c.172+17C>A (n.172+17C>A)
n.863+17C>A
 gnomAD v4
1g.11274077C=CA1153587810UBIAD1c.529+17C= (n.529+17C=)
c.127+17C= (n.127+17C=)
c.172+17C= (n.172+17C=)
n.863+17C=
1g.11274077C>GCA2643253540UBIAD1c.529+17C>G (n.529+17C>G)
c.127+17C>G (n.127+17C>G)
c.172+17C>G (n.172+17C>G)
n.863+17C>G
 gnomAD v4
1g.11274077C>TCA885581721UBIAD1c.529+17C>T (n.529+17C>T)
c.127+17C>T (n.127+17C>T)
c.172+17C>T (n.172+17C>T)
n.863+17C>T
 dbSNP gnomAD v4
1g.11274078C=CA1153587811UBIAD1c.529+18C= (n.529+18C=)
c.127+18C= (n.127+18C=)
c.172+18C= (n.172+18C=)
n.863+18C=
1g.11274078C>TCA998592205UBIAD1c.529+18C>T (n.529+18C>T)
c.127+18C>T (n.127+18C>T)
c.172+18C>T (n.172+18C>T)
n.863+18C>T
 dbSNP gnomAD v3 gnomAD v4
1g.11274079T>CCA591165UBIAD1c.529+19T>C (n.529+19T>C)
c.127+19T>C (n.127+19T>C)
c.172+19T>C (n.172+19T>C)
n.863+19T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274079T=CA1143558482UBIAD1c.529+19T= (n.529+19T=)
c.127+19T= (n.127+19T=)
c.172+19T= (n.172+19T=)
n.863+19T=
1g.11274080G>CCA591166UBIAD1c.529+20G>C (n.529+20G>C)
c.127+20G>C (n.127+20G>C)
c.172+20G>C (n.172+20G>C)
n.863+20G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274080G=CA1153587815UBIAD1c.529+20G= (n.529+20G=)
c.127+20G= (n.127+20G=)
c.172+20G= (n.172+20G=)
n.863+20G=
1g.11274081T>ACA2643253549UBIAD1c.529+21T>A (n.529+21T>A)
c.127+21T>A (n.127+21T>A)
c.172+21T>A (n.172+21T>A)
n.863+21T>A
 gnomAD v4
1g.11274081T>GCA2643253551UBIAD1c.529+21T>G (n.529+21T>G)
c.127+21T>G (n.127+21T>G)
c.172+21T>G (n.172+21T>G)
n.863+21T>G
 gnomAD v4
1g.11274082G>ACA2643253552UBIAD1c.529+22G>A (n.529+22G>A)
c.127+22G>A (n.127+22G>A)
c.172+22G>A (n.172+22G>A)
n.863+22G>A
 gnomAD v4
1g.11274085C=CA1153587817UBIAD1c.529+25C= (n.529+25C=)
c.127+25C= (n.127+25C=)
c.172+25C= (n.172+25C=)
n.863+25C=
1g.11274085C>TCA591167UBIAD1c.529+25C>T (n.529+25C>T)
c.127+25C>T (n.127+25C>T)
c.172+25C>T (n.172+25C>T)
n.863+25C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274087G>ACA2643253557UBIAD1c.529+27G>A (n.529+27G>A)
c.127+27G>A (n.127+27G>A)
c.172+27G>A (n.172+27G>A)
n.863+27G>A
 gnomAD v4
1g.11274087G=CA1153587820UBIAD1c.529+27G= (n.529+27G=)
c.127+27G= (n.127+27G=)
c.172+27G= (n.172+27G=)
n.863+27G=
1g.11274087G>TCA591168UBIAD1c.529+27G>T (n.529+27G>T)
c.127+27G>T (n.127+27G>T)
c.172+27G>T (n.172+27G>T)
n.863+27G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274088C=CA1143406165UBIAD1c.529+28C= (n.529+28C=)
c.127+28C= (n.127+28C=)
c.172+28C= (n.172+28C=)
n.863+28C=
1g.11274088C>TCA591169UBIAD1c.529+28C>T (n.529+28C>T)
c.127+28C>T (n.127+28C>T)
c.172+28C>T (n.172+28C>T)
n.863+28C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11274089A=CA1153587823UBIAD1c.529+29A= (n.529+29A=)
c.127+29A= (n.127+29A=)
c.172+29A= (n.172+29A=)
n.863+29A=
1g.11274089A>CCA2643253565UBIAD1c.529+29A>C (n.529+29A>C)
c.127+29A>C (n.127+29A>C)
c.172+29A>C (n.172+29A>C)
n.863+29A>C
 gnomAD v4
1g.11274089A>GCA1153587824UBIAD1c.529+29A>G (n.529+29A>G)
c.127+29A>G (n.127+29A>G)
c.172+29A>G (n.172+29A>G)
n.863+29A>G
 dbSNP

Number of alleles fetched