Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.11285628G>ACA885652485UBIAD1c.530-16G>A (n.530-16G>A)
c.530-9245G>A (n.530-9245G>A)
c.128-16G>A (n.128-16G>A)
c.173-16G>A (n.173-16G>A)
n.864-16G>A
 dbSNP
1g.11285628G=CA1153600432UBIAD1c.530-16G= (n.530-16G=)
c.530-9245G= (n.530-9245G=)
c.128-16G= (n.128-16G=)
c.173-16G= (n.173-16G=)
n.864-16G=
1g.11285628_11285629delCA2592753744UBIAD1c.530-16_530-15del (n.530-16_530-15del)
c.530-9245_530-9244del (n.530-9245_530-9244del)
c.128-16_128-15del (n.128-16_128-15del)
c.173-16_173-15del (n.173-16_173-15del)
n.864-16_864-15del
 gnomAD v3 gnomAD v4
1g.11285629A>TCA2643252682UBIAD1c.530-15A>T (n.530-15A>T)
c.530-9244A>T (n.530-9244A>T)
c.128-15A>T (n.128-15A>T)
c.173-15A>T (n.173-15A>T)
n.864-15A>T
 gnomAD v4
1g.11285629_11285630delinsATCA1153600435UBIAD1c.530-15_530-14delinsAT (n.530-15_530-14delinsAT)
c.530-9244_530-9243delinsAT (n.530-9244_530-9243delinsAT)
c.128-15_128-14delinsAT (n.128-15_128-14delinsAT)
c.173-15_173-14delinsAT (n.173-15_173-14delinsAT)
n.864-15_864-14delinsAT
1g.11285633delCA591178UBIAD1c.530-11del (n.530-11del)
c.530-9240del (n.530-9240del)
c.128-11del (n.128-11del)
c.173-11del (n.173-11del)
n.864-11del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285632T>CCA2643252688UBIAD1c.530-12T>C (n.530-12T>C)
c.530-9241T>C (n.530-9241T>C)
c.128-12T>C (n.128-12T>C)
c.173-12T>C (n.173-12T>C)
n.864-12T>C
 gnomAD v4
1g.11285634C>GCA2574212289UBIAD1c.530-10C>G (n.530-10C>G)
c.530-9239C>G (n.530-9239C>G)
c.128-10C>G (n.128-10C>G)
c.173-10C>G (n.173-10C>G)
n.864-10C>G
1g.11285637G=CA1153600442UBIAD1c.530-7G= (n.530-7G=)
c.530-9236G= (n.530-9236G=)
c.128-7G= (n.128-7G=)
c.173-7G= (n.173-7G=)
n.864-7G=
1g.11285637G>TCA521464613UBIAD1c.530-7G>T (n.530-7G>T)
c.530-9236G>T (n.530-9236G>T)
c.128-7G>T (n.128-7G>T)
c.173-7G>T (n.173-7G>T)
n.864-7G>T
 dbSNP gnomAD v2 gnomAD v4
1g.11285638C>TCA2742465132UBIAD1c.530-6C>T (n.530-6C>T)
c.530-9235C>T (n.530-9235C>T)
c.128-6C>T (n.128-6C>T)
c.173-6C>T (n.173-6C>T)
n.864-6C>T
1g.11285639C=CA1153600447UBIAD1c.530-5C= (n.530-5C=)
c.530-9234C= (n.530-9234C=)
c.128-5C= (n.128-5C=)
c.173-5C= (n.173-5C=)
n.864-5C=
1g.11285639C>TCA591179UBIAD1c.530-5C>T (n.530-5C>T)
c.530-9234C>T (n.530-9234C>T)
c.128-5C>T (n.128-5C>T)
c.173-5C>T (n.173-5C>T)
n.864-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285640G>ACA591180UBIAD1c.530-4G>A (n.530-4G>A)
c.530-9233G>A (n.530-9233G>A)
c.128-4G>A (n.128-4G>A)
c.173-4G>A (n.173-4G>A)
n.864-4G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285640G=CA1153600451UBIAD1c.530-4G= (n.530-4G=)
c.530-9233G= (n.530-9233G=)
c.128-4G= (n.128-4G=)
c.173-4G= (n.173-4G=)
n.864-4G=
1g.11285640G>TCA2643252697UBIAD1c.530-4G>T (n.530-4G>T)
c.530-9233G>T (n.530-9233G>T)
c.128-4G>T (n.128-4G>T)
c.173-4G>T (n.173-4G>T)
n.864-4G>T
 gnomAD v4
1g.11285641C=CA1153600456UBIAD1c.530-3C= (n.530-3C=)
c.530-9232C= (n.530-9232C=)
c.128-3C= (n.128-3C=)
c.173-3C= (n.173-3C=)
n.864-3C=
1g.11285641C>TCA18416920UBIAD1c.530-3C>T (n.530-3C>T)
c.530-9232C>T (n.530-9232C>T)
c.128-3C>T (n.128-3C>T)
c.173-3C>T (n.173-3C>T)
n.864-3C>T
 dbSNP gnomAD v2 gnomAD v4
1g.11285642A>CCA338691715UBIAD1c.530-2A>C (n.530-2A>C)
c.530-9231A>C (n.530-9231A>C)
c.128-2A>C (n.128-2A>C)
c.173-2A>C (n.173-2A>C)
n.864-2A>C
 gnomAD v4
1g.11285642A>GCA338691716UBIAD1c.530-2A>G (n.530-2A>G)
c.530-9231A>G (n.530-9231A>G)
c.128-2A>G (n.128-2A>G)
c.173-2A>G (n.173-2A>G)
n.864-2A>G
 gnomAD v4
1g.11285642A>TCA338691717UBIAD1c.530-2A>T (n.530-2A>T)
c.530-9231A>T (n.530-9231A>T)
c.128-2A>T (n.128-2A>T)
c.173-2A>T (n.173-2A>T)
n.864-2A>T
1g.11285643G>ACA338691718UBIAD1c.530-1G>A (n.530-1G>A)
c.530-9230G>A (n.530-9230G>A)
c.128-1G>A (n.128-1G>A)
c.173-1G>A (n.173-1G>A)
n.864-1G>A
1g.11285643G>CCA338691719UBIAD1c.530-1G>C (n.530-1G>C)
c.530-9230G>C (n.530-9230G>C)
c.128-1G>C (n.128-1G>C)
c.173-1G>C (n.173-1G>C)
n.864-1G>C
1g.11285643G>TCA338691720UBIAD1c.530-1G>T (n.530-1G>T)
c.530-9230G>T (n.530-9230G>T)
c.128-1G>T (n.128-1G>T)
c.173-1G>T (n.173-1G>T)
n.864-1G>T
1g.11285644G>ACA130837UBIAD1c.530G>A (p.Gly177Glu)
c.530-9229G>A (n.530-9229G>A)
c.128G>A (p.Gly43Glu)
c.173G>A (p.Gly58Glu)
n.864G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.11285644G>CCA338691722UBIAD1c.530G>C (p.Gly177Ala)
c.530-9229G>C (n.530-9229G>C)
c.128G>C (p.Gly43Ala)
c.173G>C (p.Gly58Ala)
n.864G>C
1g.11285644G=CA1144228672UBIAD1c.530G= (p.Gly177=)
c.530-9229G= (n.530-9229G=)
c.128G= (p.Gly43=)
c.173G= (p.Gly58=)
n.864G=
1g.11285644G>TCA338691721UBIAD1c.530G>T (p.Gly177Val)
c.530-9229G>T (n.530-9229G>T)
c.128G>T (p.Gly43Val)
c.173G>T (p.Gly58Val)
n.864G>T
1g.11285645A>CCA416045195UBIAD1c.531A>C (p.Gly177=)
c.530-9228A>C (n.530-9228A>C)
c.129A>C (p.Gly43=)
c.174A>C (p.Gly58=)
n.865A>C
1g.11285645A>GCA416045197UBIAD1c.531A>G (p.Gly177=)
c.530-9228A>G (n.530-9228A>G)
c.129A>G (p.Gly43=)
c.174A>G (p.Gly58=)
n.865A>G
1g.11285645A>TCA416045198UBIAD1c.531A>T (p.Gly177=)
c.530-9228A>T (n.530-9228A>T)
c.129A>T (p.Gly43=)
c.174A>T (p.Gly58=)
n.865A>T
1g.11285646A=CA1153600467UBIAD1c.532A= (p.Ile178=)
c.530-9227A= (n.530-9227A=)
c.130A= (p.Ile44=)
c.175A= (p.Ile59=)
n.866A=
1g.11285646A>CCA338691723UBIAD1c.532A>C (p.Ile178Leu)
c.530-9227A>C (n.530-9227A>C)
c.130A>C (p.Ile44Leu)
c.175A>C (p.Ile59Leu)
n.866A>C
1g.11285646A>GCA18416921UBIAD1c.532A>G (p.Ile178Val)
c.530-9227A>G (n.530-9227A>G)
c.130A>G (p.Ile44Val)
c.175A>G (p.Ile59Val)
n.866A>G
 dbSNP gnomAD v4
1g.11285646A>TCA338691724UBIAD1c.532A>T (p.Ile178Phe)
c.530-9227A>T (n.530-9227A>T)
c.130A>T (p.Ile44Phe)
c.175A>T (p.Ile59Phe)
n.866A>T
 COSMIC
1g.11285647T>ACA338691725UBIAD1c.533T>A (p.Ile178Asn)
c.530-9226T>A (n.530-9226T>A)
c.131T>A (p.Ile44Asn)
c.176T>A (p.Ile59Asn)
n.867T>A
1g.11285647T>CCA338691726UBIAD1c.533T>C (p.Ile178Thr)
c.530-9226T>C (n.530-9226T>C)
c.131T>C (p.Ile44Thr)
c.176T>C (p.Ile59Thr)
n.867T>C
 gnomAD v4
1g.11285647T>GCA338691727UBIAD1c.533T>G (p.Ile178Ser)
c.530-9226T>G (n.530-9226T>G)
c.131T>G (p.Ile44Ser)
c.176T>G (p.Ile59Ser)
n.867T>G
1g.11285648T>ACA416045201UBIAD1c.534T>A (p.Ile178=)
c.530-9225T>A (n.530-9225T>A)
c.132T>A (p.Ile44=)
c.177T>A (p.Ile59=)
n.868T>A
1g.11285648T>CCA416045199UBIAD1c.534T>C (p.Ile178=)
c.530-9225T>C (n.530-9225T>C)
c.132T>C (p.Ile44=)
c.177T>C (p.Ile59=)
n.868T>C
1g.11285648T>GCA338691728UBIAD1c.534T>G (p.Ile178Met)
c.530-9225T>G (n.530-9225T>G)
c.132T>G (p.Ile44Met)
c.177T>G (p.Ile59Met)
n.868T>G
1g.11285649G>ACA338691729UBIAD1c.535G>A (p.Gly179Arg)
c.530-9224G>A (n.530-9224G>A)
c.133G>A (p.Gly45Arg)
c.178G>A (p.Gly60Arg)
n.869G>A
1g.11285649G>CCA338691730UBIAD1c.535G>C (p.Gly179Arg)
c.530-9224G>C (n.530-9224G>C)
c.133G>C (p.Gly45Arg)
c.178G>C (p.Gly60Arg)
n.869G>C
1g.11285649G>TCA338691731UBIAD1c.535G>T (p.Gly179Ter)
c.530-9224G>T (n.530-9224G>T)
c.133G>T (p.Gly45Ter)
c.178G>T (p.Gly60Ter)
n.869G>T
1g.11285650G>ACA338691732UBIAD1c.536G>A (p.Gly179Glu)
c.530-9223G>A (n.530-9223G>A)
c.134G>A (p.Gly45Glu)
c.179G>A (p.Gly60Glu)
n.870G>A
1g.11285650G>CCA338691733UBIAD1c.536G>C (p.Gly179Ala)
c.530-9223G>C (n.530-9223G>C)
c.134G>C (p.Gly45Ala)
c.179G>C (p.Gly60Ala)
n.870G>C
1g.11285650G>TCA338691734UBIAD1c.536G>T (p.Gly179Val)
c.530-9223G>T (n.530-9223G>T)
c.134G>T (p.Gly45Val)
c.179G>T (p.Gly60Val)
n.870G>T
1g.11285651A>CCA416045204UBIAD1c.537A>C (p.Gly179=)
c.530-9222A>C (n.530-9222A>C)
c.135A>C (p.Gly45=)
c.180A>C (p.Gly60=)
n.871A>C
1g.11285651A>GCA416045203UBIAD1c.537A>G (p.Gly179=)
c.530-9222A>G (n.530-9222A>G)
c.135A>G (p.Gly45=)
c.180A>G (p.Gly60=)
n.871A>G
1g.11285651A>TCA416045202UBIAD1c.537A>T (p.Gly179=)
c.530-9222A>T (n.530-9222A>T)
c.135A>T (p.Gly45=)
c.180A>T (p.Gly60=)
n.871A>T
 gnomAD v4 COSMIC
1g.11285652T>ACA338691735UBIAD1c.538T>A (p.Phe180Ile)
c.530-9221T>A (n.530-9221T>A)
c.136T>A (p.Phe46Ile)
c.181T>A (p.Phe61Ile)
n.872T>A
1g.11285652T>CCA338691737UBIAD1c.538T>C (p.Phe180Leu)
c.530-9221T>C (n.530-9221T>C)
c.136T>C (p.Phe46Leu)
c.181T>C (p.Phe61Leu)
n.872T>C
1g.11285652T>GCA338691736UBIAD1c.538T>G (p.Phe180Val)
c.530-9221T>G (n.530-9221T>G)
c.136T>G (p.Phe46Val)
c.181T>G (p.Phe61Val)
n.872T>G
1g.11285653T>ACA338691738UBIAD1c.539T>A (p.Phe180Tyr)
c.530-9220T>A (n.530-9220T>A)
c.137T>A (p.Phe46Tyr)
c.182T>A (p.Phe61Tyr)
n.873T>A
1g.11285653T>CCA338691739UBIAD1c.539T>C (p.Phe180Ser)
c.530-9220T>C (n.530-9220T>C)
c.137T>C (p.Phe46Ser)
c.182T>C (p.Phe61Ser)
n.873T>C
1g.11285653T>GCA338691740UBIAD1c.539T>G (p.Phe180Cys)
c.530-9220T>G (n.530-9220T>G)
c.137T>G (p.Phe46Cys)
c.182T>G (p.Phe61Cys)
n.873T>G
 dbSNP
1g.11285653T=CA1153600468UBIAD1c.539T= (p.Phe180=)
c.530-9220T= (n.530-9220T=)
c.137T= (p.Phe46=)
c.182T= (p.Phe61=)
n.873T=
1g.11285654C>ACA338691741UBIAD1c.540C>A (p.Phe180Leu)
c.530-9219C>A (n.530-9219C>A)
c.138C>A (p.Phe46Leu)
c.183C>A (p.Phe61Leu)
n.874C>A
1g.11285654C=CA1153600471UBIAD1c.540C= (p.Phe180=)
c.530-9219C= (n.530-9219C=)
c.138C= (p.Phe46=)
c.183C= (p.Phe61=)
n.874C=
1g.11285654C>GCA338691742UBIAD1c.540C>G (p.Phe180Leu)
c.530-9219C>G (n.530-9219C>G)
c.138C>G (p.Phe46Leu)
c.183C>G (p.Phe61Leu)
n.874C>G
1g.11285654C>TCA416045205UBIAD1c.540C>T (p.Phe180=)
c.530-9219C>T (n.530-9219C>T)
c.138C>T (p.Phe46=)
c.183C>T (p.Phe61=)
n.874C>T
 dbSNP
1g.11285655A>CCA338691743UBIAD1c.541A>C (p.Lys181Gln)
c.530-9218A>C (n.530-9218A>C)
c.139A>C (p.Lys47Gln)
c.184A>C (p.Lys62Gln)
n.875A>C
1g.11285655A>GCA338691744UBIAD1c.541A>G (p.Lys181Glu)
c.530-9218A>G (n.530-9218A>G)
c.139A>G (p.Lys47Glu)
c.184A>G (p.Lys62Glu)
n.875A>G
1g.11285655A>TCA338691745UBIAD1c.541A>T (p.Lys181Ter)
c.530-9218A>T (n.530-9218A>T)
c.139A>T (p.Lys47Ter)
c.184A>T (p.Lys62Ter)
n.875A>T
1g.11285656A>CCA338691746UBIAD1c.542A>C (p.Lys181Thr)
c.530-9217A>C (n.530-9217A>C)
c.140A>C (p.Lys47Thr)
c.185A>C (p.Lys62Thr)
n.876A>C
1g.11285656A>GCA338691747UBIAD1c.542A>G (p.Lys181Arg)
c.530-9217A>G (n.530-9217A>G)
c.140A>G (p.Lys47Arg)
c.185A>G (p.Lys62Arg)
n.876A>G
 gnomAD v4
1g.11285656A>TCA338691748UBIAD1c.542A>T (p.Lys181Met)
c.530-9217A>T (n.530-9217A>T)
c.140A>T (p.Lys47Met)
c.185A>T (p.Lys62Met)
n.876A>T
 gnomAD v4
1g.11285657delCA2643252731UBIAD1c.543del (p.Lys181AsnfsTer19)
c.530-9216del (n.530-9216del)
c.141del (p.Lys47AsnfsTer19)
c.186del (p.Lys62AsnfsTer19)
n.877del
 gnomAD v4
1g.11285657G>ACA416045207UBIAD1c.543G>A (p.Lys181=)
c.530-9216G>A (n.530-9216G>A)
c.141G>A (p.Lys47=)
c.186G>A (p.Lys62=)
n.877G>A
1g.11285657G>CCA338691750UBIAD1c.543G>C (p.Lys181Asn)
c.530-9216G>C (n.530-9216G>C)
c.141G>C (p.Lys47Asn)
c.186G>C (p.Lys62Asn)
n.877G>C
1g.11285657G>TCA338691749UBIAD1c.543G>T (p.Lys181Asn)
c.530-9216G>T (n.530-9216G>T)
c.141G>T (p.Lys47Asn)
c.186G>T (p.Lys62Asn)
n.877G>T
1g.11285658T>ACA338691751UBIAD1c.544T>A (p.Tyr182Asn)
c.530-9215T>A (n.530-9215T>A)
c.142T>A (p.Tyr48Asn)
c.187T>A (p.Tyr63Asn)
n.878T>A
1g.11285658T>CCA338691753UBIAD1c.544T>C (p.Tyr182His)
c.530-9215T>C (n.530-9215T>C)
c.142T>C (p.Tyr48His)
c.187T>C (p.Tyr63His)
n.878T>C
1g.11285658T>GCA338691752UBIAD1c.544T>G (p.Tyr182Asp)
c.530-9215T>G (n.530-9215T>G)
c.142T>G (p.Tyr48Asp)
c.187T>G (p.Tyr63Asp)
n.878T>G
1g.11285659A>CCA338691754UBIAD1c.545A>C (p.Tyr182Ser)
c.530-9214A>C (n.530-9214A>C)
c.143A>C (p.Tyr48Ser)
c.188A>C (p.Tyr63Ser)
n.879A>C
1g.11285659A>GCA338691756UBIAD1c.545A>G (p.Tyr182Cys)
c.530-9214A>G (n.530-9214A>G)
c.143A>G (p.Tyr48Cys)
c.188A>G (p.Tyr63Cys)
n.879A>G
1g.11285659A>TCA338691755UBIAD1c.545A>T (p.Tyr182Phe)
c.530-9214A>T (n.530-9214A>T)
c.143A>T (p.Tyr48Phe)
c.188A>T (p.Tyr63Phe)
n.879A>T
 gnomAD v4
1g.11285660C>ACA338691757UBIAD1c.546C>A (p.Tyr182Ter)
c.530-9213C>A (n.530-9213C>A)
c.144C>A (p.Tyr48Ter)
c.189C>A (p.Tyr63Ter)
n.880C>A
1g.11285660C=CA1153600486UBIAD1c.546C= (p.Tyr182=)
c.530-9213C= (n.530-9213C=)
c.144C= (p.Tyr48=)
c.189C= (p.Tyr63=)
n.880C=
1g.11285660C>GCA338691758UBIAD1c.546C>G (p.Tyr182Ter)
c.530-9213C>G (n.530-9213C>G)
c.144C>G (p.Tyr48Ter)
c.189C>G (p.Tyr63Ter)
n.880C>G
1g.11285660C>TCA416045211UBIAD1c.546C>T (p.Tyr182=)
c.530-9213C>T (n.530-9213C>T)
c.144C>T (p.Tyr48=)
c.189C>T (p.Tyr63=)
n.880C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.11285661_11285665delCA2643252742UBIAD1c.547_551del (p.Val183SerfsTer?)
c.530-9212_530-9208del (n.530-9212_530-9208del)
c.145_149del (p.Val49SerfsTer26)
c.190_194del (p.Val64SerfsTer?)
c.547_551del (p.Val183SerfsTer26)
n.881_885del
 gnomAD v4
1g.11285661G>ACA591181UBIAD1c.547G>A (p.Val183Met)
c.530-9212G>A (n.530-9212G>A)
c.145G>A (p.Val49Met)
c.190G>A (p.Val64Met)
n.881G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.11285661G>CCA18416922UBIAD1c.547G>C (p.Val183Leu)
c.530-9212G>C (n.530-9212G>C)
c.145G>C (p.Val49Leu)
c.190G>C (p.Val64Leu)
n.881G>C
 dbSNP gnomAD v3 gnomAD v4
1g.11285661G=CA1149127347UBIAD1c.547G= (p.Val183=)
c.530-9212G= (n.530-9212G=)
c.145G= (p.Val49=)
c.190G= (p.Val64=)
n.881G=
1g.11285661G>TCA338691759UBIAD1c.547G>T (p.Val183Leu)
c.530-9212G>T (n.530-9212G>T)
c.145G>T (p.Val49Leu)
c.190G>T (p.Val64Leu)
n.881G>T
1g.11285662T>ACA338691760UBIAD1c.548T>A (p.Val183Glu)
c.530-9211T>A (n.530-9211T>A)
c.146T>A (p.Val49Glu)
c.191T>A (p.Val64Glu)
n.882T>A
1g.11285662T>CCA338691761UBIAD1c.548T>C (p.Val183Ala)
c.530-9211T>C (n.530-9211T>C)
c.146T>C (p.Val49Ala)
c.191T>C (p.Val64Ala)
n.882T>C
1g.11285662T>GCA338691762UBIAD1c.548T>G (p.Val183Gly)
c.530-9211T>G (n.530-9211T>G)
c.146T>G (p.Val49Gly)
c.191T>G (p.Val64Gly)
n.882T>G
1g.11285663G>ACA416045213UBIAD1c.549G>A (p.Val183=)
c.530-9210G>A (n.530-9210G>A)
c.147G>A (p.Val49=)
c.192G>A (p.Val64=)
n.883G>A
1g.11285663G>CCA416045214UBIAD1c.549G>C (p.Val183=)
c.530-9210G>C (n.530-9210G>C)
c.147G>C (p.Val49=)
c.192G>C (p.Val64=)
n.883G>C
1g.11285663G>TCA416045215UBIAD1c.549G>T (p.Val183=)
c.530-9210G>T (n.530-9210G>T)
c.147G>T (p.Val49=)
c.192G>T (p.Val64=)
n.883G>T
1g.11285663_11285664delCA2643252762UBIAD1c.549_550del (p.Ala184SerfsTer?)
c.530-9210_530-9209del (n.530-9210_530-9209del)
c.147_148del (p.Ala50SerfsTer26)
c.192_193del (p.Ala65SerfsTer?)
c.549_550del (p.Ala184SerfsTer26)
n.883_884del
 gnomAD v4
1g.11285664G>ACA338691763UBIAD1c.550G>A (p.Ala184Thr)
c.530-9209G>A (n.530-9209G>A)
c.148G>A (p.Ala50Thr)
c.193G>A (p.Ala65Thr)
n.884G>A
1g.11285664G>CCA338691764UBIAD1c.550G>C (p.Ala184Pro)
c.530-9209G>C (n.530-9209G>C)
c.148G>C (p.Ala50Pro)
c.193G>C (p.Ala65Pro)
n.884G>C
1g.11285664G>TCA338691765UBIAD1c.550G>T (p.Ala184Ser)
c.530-9209G>T (n.530-9209G>T)
c.148G>T (p.Ala50Ser)
c.193G>T (p.Ala65Ser)
n.884G>T
1g.11285665C>ACA338691768UBIAD1c.551C>A (p.Ala184Asp)
c.530-9208C>A (n.530-9208C>A)
c.149C>A (p.Ala50Asp)
c.194C>A (p.Ala65Asp)
n.885C>A
1g.11285665C>GCA338691767UBIAD1c.551C>G (p.Ala184Gly)
c.530-9208C>G (n.530-9208C>G)
c.149C>G (p.Ala50Gly)
c.194C>G (p.Ala65Gly)
n.885C>G
1g.11285665C>TCA338691766UBIAD1c.551C>T (p.Ala184Val)
c.530-9208C>T (n.530-9208C>T)
c.149C>T (p.Ala50Val)
c.194C>T (p.Ala65Val)
n.885C>T
1g.11285666T>ACA416045219UBIAD1c.552T>A (p.Ala184=)
c.530-9207T>A (n.530-9207T>A)
c.150T>A (p.Ala50=)
c.195T>A (p.Ala65=)
n.886T>A
1g.11285666T>CCA416045220UBIAD1c.552T>C (p.Ala184=)
c.530-9207T>C (n.530-9207T>C)
c.150T>C (p.Ala50=)
c.195T>C (p.Ala65=)
n.886T>C
1g.11285666T>GCA416045221UBIAD1c.552T>G (p.Ala184=)
c.530-9207T>G (n.530-9207T>G)
c.150T>G (p.Ala50=)
c.195T>G (p.Ala65=)
n.886T>G
1g.11285667C>ACA338691769UBIAD1c.553C>A (p.Leu185Met)
c.530-9206C>A (n.530-9206C>A)
c.151C>A (p.Leu51Met)
c.196C>A (p.Leu66Met)
n.887C>A
1g.11285667C>GCA338691770UBIAD1c.553C>G (p.Leu185Val)
c.530-9206C>G (n.530-9206C>G)
c.151C>G (p.Leu51Val)
c.196C>G (p.Leu66Val)
n.887C>G
 gnomAD v4
1g.11285667C>TCA416045222UBIAD1c.553C>T (p.Leu185=)
c.530-9206C>T (n.530-9206C>T)
c.151C>T (p.Leu51=)
c.196C>T (p.Leu66=)
n.887C>T
 gnomAD v4 COSMIC
1g.11285668T>ACA338691771UBIAD1c.554T>A (p.Leu185Gln)
c.530-9205T>A (n.530-9205T>A)
c.152T>A (p.Leu51Gln)
c.197T>A (p.Leu66Gln)
n.888T>A
1g.11285668T>CCA338691772UBIAD1c.554T>C (p.Leu185Pro)
c.530-9205T>C (n.530-9205T>C)
c.152T>C (p.Leu51Pro)
c.197T>C (p.Leu66Pro)
n.888T>C
 gnomAD v4
1g.11285668T>GCA338691773UBIAD1c.554T>G (p.Leu185Arg)
c.530-9205T>G (n.530-9205T>G)
c.152T>G (p.Leu51Arg)
c.197T>G (p.Leu66Arg)
n.888T>G
1g.11285669G>ACA416045225UBIAD1c.555G>A (p.Leu185=)
c.530-9204G>A (n.530-9204G>A)
c.153G>A (p.Leu51=)
c.198G>A (p.Leu66=)
n.889G>A
1g.11285669G>CCA416045227UBIAD1c.555G>C (p.Leu185=)
c.530-9204G>C (n.530-9204G>C)
c.153G>C (p.Leu51=)
c.198G>C (p.Leu66=)
n.889G>C
1g.11285669G>TCA416045228UBIAD1c.555G>T (p.Leu185=)
c.530-9204G>T (n.530-9204G>T)
c.153G>T (p.Leu51=)
c.198G>T (p.Leu66=)
n.889G>T
1g.11285671delCA416045226UBIAD1c.557del (p.Gly186GlufsTer14)
c.530-9202del (n.530-9202del)
c.155del (p.Gly52GlufsTer14)
c.200del (p.Gly67GlufsTer14)
n.891del
 COSMIC
1g.11285670G>ACA114582UBIAD1c.556G>A (p.Gly186Arg)
c.530-9203G>A (n.530-9203G>A)
c.154G>A (p.Gly52Arg)
c.199G>A (p.Gly67Arg)
n.890G>A
 ClinVar dbSNP
1g.11285670G>CCA338691774UBIAD1c.556G>C (p.Gly186Arg)
c.530-9203G>C (n.530-9203G>C)
c.154G>C (p.Gly52Arg)
c.199G>C (p.Gly67Arg)
n.890G>C
1g.11285670G=CA1141579590UBIAD1c.556G= (p.Gly186=)
c.530-9203G= (n.530-9203G=)
c.154G= (p.Gly52=)
c.199G= (p.Gly67=)
n.890G=
1g.11285670G>TCA338691775UBIAD1c.556G>T (p.Gly186Ter)
c.530-9203G>T (n.530-9203G>T)
c.154G>T (p.Gly52Ter)
c.199G>T (p.Gly67Ter)
n.890G>T
1g.11285671G>ACA338691776UBIAD1c.557G>A (p.Gly186Glu)
c.530-9202G>A (n.530-9202G>A)
c.155G>A (p.Gly52Glu)
c.200G>A (p.Gly67Glu)
n.891G>A
1g.11285671G>CCA338691777UBIAD1c.557G>C (p.Gly186Ala)
c.530-9202G>C (n.530-9202G>C)
c.155G>C (p.Gly52Ala)
c.200G>C (p.Gly67Ala)
n.891G>C
1g.11285671G>TCA338691778UBIAD1c.557G>T (p.Gly186Val)
c.530-9202G>T (n.530-9202G>T)
c.155G>T (p.Gly52Val)
c.200G>T (p.Gly67Val)
n.891G>T
1g.11285672A>CCA416045230UBIAD1c.558A>C (p.Gly186=)
c.530-9201A>C (n.530-9201A>C)
c.156A>C (p.Gly52=)
c.201A>C (p.Gly67=)
n.892A>C
1g.11285672A>GCA416045231UBIAD1c.558A>G (p.Gly186=)
c.530-9201A>G (n.530-9201A>G)
c.156A>G (p.Gly52=)
c.201A>G (p.Gly67=)
n.892A>G
1g.11285672A>TCA416045232UBIAD1c.558A>T (p.Gly186=)
c.530-9201A>T (n.530-9201A>T)
c.156A>T (p.Gly52=)
c.201A>T (p.Gly67=)
n.892A>T
1g.11285672_11285673insCCACA2643252777UBIAD1c.558_559insCCA (p.Gly186_Asp187insPro)
c.530-9201_530-9200insCCA (n.530-9201_530-9200insCCA)
c.156_157insCCA (p.Gly52_Asp53insPro)
c.201_202insCCA (p.Gly67_Asp68insPro)
n.892_893insCCA
 gnomAD v4
1g.11285673G>ACA338691781UBIAD1c.559G>A (p.Asp187Asn)
c.530-9200G>A (n.530-9200G>A)
c.157G>A (p.Asp53Asn)
c.202G>A (p.Asp68Asn)
n.893G>A
1g.11285673G>CCA338691780UBIAD1c.559G>C (p.Asp187His)
c.530-9200G>C (n.530-9200G>C)
c.157G>C (p.Asp53His)
c.202G>C (p.Asp68His)
n.893G>C
1g.11285673G>TCA338691779UBIAD1c.559G>T (p.Asp187Tyr)
c.530-9200G>T (n.530-9200G>T)
c.157G>T (p.Asp53Tyr)
c.202G>T (p.Asp68Tyr)
n.893G>T
1g.11285673_11285674insCCTGGCCAACATGGTGAACA2643252781UBIAD1c.559_560insCCTGGCCAACATGGTGAA (p.Asp187AlafsTer6)
c.530-9200_530-9199insCCTGGCCAACATGGTGAA (n.530-9200_530-9199insCCTGGCCAACATGGTGAA)
c.157_158insCCTGGCCAACATGGTGAA (p.Asp53AlafsTer6)
c.202_203insCCTGGCCAACATGGTGAA (p.Asp68AlafsTer6)
n.893_894insCCTGGCCAACATGGTGAA
 gnomAD v4
1g.11285674A>CCA338691782UBIAD1c.560A>C (p.Asp187Ala)
c.530-9199A>C (n.530-9199A>C)
c.158A>C (p.Asp53Ala)
c.203A>C (p.Asp68Ala)
n.894A>C
1g.11285674A>GCA338691783UBIAD1c.560A>G (p.Asp187Gly)
c.530-9199A>G (n.530-9199A>G)
c.158A>G (p.Asp53Gly)
c.203A>G (p.Asp68Gly)
n.894A>G
 gnomAD v4
1g.11285674A>TCA338691784UBIAD1c.560A>T (p.Asp187Val)
c.530-9199A>T (n.530-9199A>T)
c.158A>T (p.Asp53Val)
c.203A>T (p.Asp68Val)
n.894A>T
1g.11285675C>ACA338691785UBIAD1c.561C>A (p.Asp187Glu)
c.530-9198C>A (n.530-9198C>A)
c.159C>A (p.Asp53Glu)
c.204C>A (p.Asp68Glu)
n.895C>A
1g.11285675C>GCA338691786UBIAD1c.561C>G (p.Asp187Glu)
c.530-9198C>G (n.530-9198C>G)
c.159C>G (p.Asp53Glu)
c.204C>G (p.Asp68Glu)
n.895C>G
1g.11285675C>TCA416045234UBIAD1c.561C>T (p.Asp187=)
c.530-9198C>T (n.530-9198C>T)
c.159C>T (p.Asp53=)
c.204C>T (p.Asp68=)
n.895C>T
1g.11285676C>ACA338691787UBIAD1c.562C>A (p.Leu188Ile)
c.530-9197C>A (n.530-9197C>A)
c.160C>A (p.Leu54Ile)
c.205C>A (p.Leu69Ile)
n.896C>A
1g.11285676C>GCA338691788UBIAD1c.562C>G (p.Leu188Val)
c.530-9197C>G (n.530-9197C>G)
c.160C>G (p.Leu54Val)
c.205C>G (p.Leu69Val)
n.896C>G
1g.11285676C>TCA338691789UBIAD1c.562C>T (p.Leu188Phe)
c.530-9197C>T (n.530-9197C>T)
c.160C>T (p.Leu54Phe)
c.205C>T (p.Leu69Phe)
n.896C>T
1g.11285677T>ACA338691790UBIAD1c.563T>A (p.Leu188His)
c.530-9196T>A (n.530-9196T>A)
c.161T>A (p.Leu54His)
c.206T>A (p.Leu69His)
n.897T>A
1g.11285677T>CCA591182UBIAD1c.563T>C (p.Leu188Pro)
c.530-9196T>C (n.530-9196T>C)
c.161T>C (p.Leu54Pro)
c.206T>C (p.Leu69Pro)
n.897T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285677T>GCA338691791UBIAD1c.563T>G (p.Leu188Arg)
c.530-9196T>G (n.530-9196T>G)
c.161T>G (p.Leu54Arg)
c.206T>G (p.Leu69Arg)
n.897T>G
1g.11285677T=CA1153600497UBIAD1c.563T= (p.Leu188=)
c.530-9196T= (n.530-9196T=)
c.161T= (p.Leu54=)
c.206T= (p.Leu69=)
n.897T=
1g.11285678C>ACA416045236UBIAD1c.564C>A (p.Leu188=)
c.530-9195C>A (n.530-9195C>A)
c.162C>A (p.Leu54=)
c.207C>A (p.Leu69=)
n.898C>A
1g.11285678C=CA1153600499UBIAD1c.564C= (p.Leu188=)
c.530-9195C= (n.530-9195C=)
c.162C= (p.Leu54=)
c.207C= (p.Leu69=)
n.898C=
1g.11285678C>GCA416045237UBIAD1c.564C>G (p.Leu188=)
c.530-9195C>G (n.530-9195C>G)
c.162C>G (p.Leu54=)
c.207C>G (p.Leu69=)
n.898C>G
1g.11285678C>TCA591183UBIAD1c.564C>T (p.Leu188=)
c.530-9195C>T (n.530-9195C>T)
c.162C>T (p.Leu54=)
c.207C>T (p.Leu69=)
n.898C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285679A=CA1153600501UBIAD1c.565A= (p.Ile189=)
c.530-9194A= (n.530-9194A=)
c.163A= (p.Ile55=)
c.208A= (p.Ile70=)
n.899A=
1g.11285679A>CCA338691793UBIAD1c.565A>C (p.Ile189Leu)
c.530-9194A>C (n.530-9194A>C)
c.163A>C (p.Ile55Leu)
c.208A>C (p.Ile70Leu)
n.899A>C
1g.11285679A>GCA18416923UBIAD1c.565A>G (p.Ile189Val)
c.530-9194A>G (n.530-9194A>G)
c.163A>G (p.Ile55Val)
c.208A>G (p.Ile70Val)
n.899A>G
 dbSNP gnomAD v4
1g.11285679A>TCA338691792UBIAD1c.565A>T (p.Ile189Phe)
c.530-9194A>T (n.530-9194A>T)
c.163A>T (p.Ile55Phe)
c.208A>T (p.Ile70Phe)
n.899A>T
1g.11285680T>ACA338691794UBIAD1c.566T>A (p.Ile189Asn)
c.530-9193T>A (n.530-9193T>A)
c.164T>A (p.Ile55Asn)
c.209T>A (p.Ile70Asn)
n.900T>A
1g.11285680T>CCA338691795UBIAD1c.566T>C (p.Ile189Thr)
c.530-9193T>C (n.530-9193T>C)
c.164T>C (p.Ile55Thr)
c.209T>C (p.Ile70Thr)
n.900T>C
 gnomAD v4
1g.11285680T>GCA338691796UBIAD1c.566T>G (p.Ile189Ser)
c.530-9193T>G (n.530-9193T>G)
c.164T>G (p.Ile55Ser)
c.209T>G (p.Ile70Ser)
n.900T>G
1g.11285681C>ACA416045239UBIAD1c.567C>A (p.Ile189=)
c.530-9192C>A (n.530-9192C>A)
c.165C>A (p.Ile55=)
c.210C>A (p.Ile70=)
n.901C>A
1g.11285681C=CA1153600505UBIAD1c.567C= (p.Ile189=)
c.530-9192C= (n.530-9192C=)
c.165C= (p.Ile55=)
c.210C= (p.Ile70=)
n.901C=
1g.11285681C>GCA338691797UBIAD1c.567C>G (p.Ile189Met)
c.530-9192C>G (n.530-9192C>G)
c.165C>G (p.Ile55Met)
c.210C>G (p.Ile70Met)
n.901C>G
 gnomAD v4
1g.11285681C>TCA416045240UBIAD1c.567C>T (p.Ile189=)
c.530-9192C>T (n.530-9192C>T)
c.165C>T (p.Ile55=)
c.210C>T (p.Ile70=)
n.901C>T
 dbSNP gnomAD v4
1g.11285682A=CA1153600512UBIAD1c.568A= (p.Ile190=)
c.530-9191A= (n.530-9191A=)
c.166A= (p.Ile56=)
c.211A= (p.Ile71=)
n.902A=
1g.11285682A>CCA338691798UBIAD1c.568A>C (p.Ile190Leu)
c.530-9191A>C (n.530-9191A>C)
c.166A>C (p.Ile56Leu)
c.211A>C (p.Ile71Leu)
n.902A>C
1g.11285682A>GCA338691799UBIAD1c.568A>G (p.Ile190Val)
c.530-9191A>G (n.530-9191A>G)
c.166A>G (p.Ile56Val)
c.211A>G (p.Ile71Val)
n.902A>G
 ClinVar dbSNP gnomAD v4
1g.11285682A>TCA338691800UBIAD1c.568A>T (p.Ile190Phe)
c.530-9191A>T (n.530-9191A>T)
c.166A>T (p.Ile56Phe)
c.211A>T (p.Ile71Phe)
n.902A>T
1g.11285683T>ACA338691801UBIAD1c.569T>A (p.Ile190Asn)
c.530-9190T>A (n.530-9190T>A)
c.167T>A (p.Ile56Asn)
c.212T>A (p.Ile71Asn)
n.903T>A
1g.11285683T>CCA338691802UBIAD1c.569T>C (p.Ile190Thr)
c.530-9190T>C (n.530-9190T>C)
c.167T>C (p.Ile56Thr)
c.212T>C (p.Ile71Thr)
n.903T>C
1g.11285683T>GCA338691803UBIAD1c.569T>G (p.Ile190Ser)
c.530-9190T>G (n.530-9190T>G)
c.167T>G (p.Ile56Ser)
c.212T>G (p.Ile71Ser)
n.903T>G
1g.11285684C>ACA416045242UBIAD1c.570C>A (p.Ile190=)
c.530-9189C>A (n.530-9189C>A)
c.168C>A (p.Ile56=)
c.213C>A (p.Ile71=)
n.904C>A
1g.11285684C=CA1148714486UBIAD1c.570C= (p.Ile190=)
c.530-9189C= (n.530-9189C=)
c.168C= (p.Ile56=)
c.213C= (p.Ile71=)
n.904C=
1g.11285684C>GCA338691804UBIAD1c.570C>G (p.Ile190Met)
c.530-9189C>G (n.530-9189C>G)
c.168C>G (p.Ile56Met)
c.213C>G (p.Ile71Met)
n.904C>G
1g.11285684C>TCA591184UBIAD1c.570C>T (p.Ile190=)
c.530-9189C>T (n.530-9189C>T)
c.168C>T (p.Ile56=)
c.213C>T (p.Ile71=)
n.904C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285685C>ACA338691807UBIAD1c.571C>A (p.Leu191Ile)
c.530-9188C>A (n.530-9188C>A)
c.169C>A (p.Leu57Ile)
c.214C>A (p.Leu72Ile)
n.905C>A
1g.11285685C>GCA338691806UBIAD1c.571C>G (p.Leu191Val)
c.530-9188C>G (n.530-9188C>G)
c.169C>G (p.Leu57Val)
c.214C>G (p.Leu72Val)
n.905C>G
1g.11285685C>TCA338691805UBIAD1c.571C>T (p.Leu191Phe)
c.530-9188C>T (n.530-9188C>T)
c.169C>T (p.Leu57Phe)
c.214C>T (p.Leu72Phe)
n.905C>T
1g.11285685_11285686delinsCTCA1153600517UBIAD1c.571_572delinsCT (p.Leu191=)
c.530-9188_530-9187delinsCT (n.530-9188_530-9187delinsCT)
c.169_170delinsCT (p.Leu57=)
c.214_215delinsCT (p.Leu72=)
n.905_906delinsCT
1g.11285686delCA591185UBIAD1c.572del (p.Leu191ProfsTer9)
c.530-9187del (n.530-9187del)
c.170del (p.Leu57ProfsTer9)
c.215del (p.Leu72ProfsTer9)
n.906del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285686T>ACA338691808UBIAD1c.572T>A (p.Leu191His)
c.530-9187T>A (n.530-9187T>A)
c.170T>A (p.Leu57His)
c.215T>A (p.Leu72His)
n.906T>A
1g.11285686T>CCA338691809UBIAD1c.572T>C (p.Leu191Pro)
c.530-9187T>C (n.530-9187T>C)
c.170T>C (p.Leu57Pro)
c.215T>C (p.Leu72Pro)
n.906T>C
1g.11285686T>GCA338691810UBIAD1c.572T>G (p.Leu191Arg)
c.530-9187T>G (n.530-9187T>G)
c.170T>G (p.Leu57Arg)
c.215T>G (p.Leu72Arg)
n.906T>G
1g.11285687C>ACA416045245UBIAD1c.573C>A (p.Leu191=)
c.530-9186C>A (n.530-9186C>A)
c.171C>A (p.Leu57=)
c.216C>A (p.Leu72=)
n.907C>A
1g.11285687C>GCA416045244UBIAD1c.573C>G (p.Leu191=)
c.530-9186C>G (n.530-9186C>G)
c.171C>G (p.Leu57=)
c.216C>G (p.Leu72=)
n.907C>G
1g.11285687C>TCA416045243UBIAD1c.573C>T (p.Leu191=)
c.530-9186C>T (n.530-9186C>T)
c.171C>T (p.Leu57=)
c.216C>T (p.Leu72=)
n.907C>T
 gnomAD v4
1g.11285688A>CCA338691811UBIAD1c.574A>C (p.Ile192Leu)
c.530-9185A>C (n.530-9185A>C)
c.172A>C (p.Ile58Leu)
c.217A>C (p.Ile73Leu)
n.908A>C
1g.11285688A>GCA338691812UBIAD1c.574A>G (p.Ile192Val)
c.530-9185A>G (n.530-9185A>G)
c.172A>G (p.Ile58Val)
c.217A>G (p.Ile73Val)
n.908A>G
1g.11285688A>TCA338691813UBIAD1c.574A>T (p.Ile192Phe)
c.530-9185A>T (n.530-9185A>T)
c.172A>T (p.Ile58Phe)
c.217A>T (p.Ile73Phe)
n.908A>T
1g.11285689T>ACA338691814UBIAD1c.575T>A (p.Ile192Asn)
c.530-9184T>A (n.530-9184T>A)
c.173T>A (p.Ile58Asn)
c.218T>A (p.Ile73Asn)
n.909T>A
 gnomAD v4
1g.11285689T>CCA338691815UBIAD1c.575T>C (p.Ile192Thr)
c.530-9184T>C (n.530-9184T>C)
c.173T>C (p.Ile58Thr)
c.218T>C (p.Ile73Thr)
n.909T>C
1g.11285689T>GCA338691816UBIAD1c.575T>G (p.Ile192Ser)
c.530-9184T>G (n.530-9184T>G)
c.173T>G (p.Ile58Ser)
c.218T>G (p.Ile73Ser)
n.909T>G
1g.11285690C>ACA416045249UBIAD1c.576C>A (p.Ile192=)
c.530-9183C>A (n.530-9183C>A)
c.174C>A (p.Ile58=)
c.219C>A (p.Ile73=)
n.910C>A
1g.11285690C>GCA338691817UBIAD1c.576C>G (p.Ile192Met)
c.530-9183C>G (n.530-9183C>G)
c.174C>G (p.Ile58Met)
c.219C>G (p.Ile73Met)
n.910C>G
1g.11285690C>TCA416045248UBIAD1c.576C>T (p.Ile192=)
c.530-9183C>T (n.530-9183C>T)
c.174C>T (p.Ile58=)
c.219C>T (p.Ile73=)
n.910C>T
1g.11285691A=CA1153600523UBIAD1c.577A= (p.Thr193=)
c.530-9182A= (n.530-9182A=)
c.175A= (p.Thr59=)
c.220A= (p.Thr74=)
n.911A=
1g.11285691A>CCA338691818UBIAD1c.577A>C (p.Thr193Pro)
c.530-9182A>C (n.530-9182A>C)
c.175A>C (p.Thr59Pro)
c.220A>C (p.Thr74Pro)
n.911A>C
1g.11285691A>GCA338691819UBIAD1c.577A>G (p.Thr193Ala)
c.530-9182A>G (n.530-9182A>G)
c.175A>G (p.Thr59Ala)
c.220A>G (p.Thr74Ala)
n.911A>G
 dbSNP gnomAD v2 gnomAD v4
1g.11285691A>TCA338691820UBIAD1c.577A>T (p.Thr193Ser)
c.530-9182A>T (n.530-9182A>T)
c.175A>T (p.Thr59Ser)
c.220A>T (p.Thr74Ser)
n.911A>T
1g.11285692C>ACA338691822UBIAD1c.578C>A (p.Thr193Asn)
c.530-9181C>A (n.530-9181C>A)
c.176C>A (p.Thr59Asn)
c.221C>A (p.Thr74Asn)
n.912C>A
1g.11285692C=CA1153600527UBIAD1c.578C= (p.Thr193=)
c.530-9181C= (n.530-9181C=)
c.176C= (p.Thr59=)
c.221C= (p.Thr74=)
n.912C=
1g.11285692C>GCA18416924UBIAD1c.578C>G (p.Thr193Ser)
c.530-9181C>G (n.530-9181C>G)
c.176C>G (p.Thr59Ser)
c.221C>G (p.Thr74Ser)
n.912C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11285692C>TCA338691821UBIAD1c.578C>T (p.Thr193Ile)
c.530-9181C>T (n.530-9181C>T)
c.176C>T (p.Thr59Ile)
c.221C>T (p.Thr74Ile)
n.912C>T
 gnomAD v4
1g.11285693T>ACA416045253UBIAD1c.579T>A (p.Thr193=)
c.530-9180T>A (n.530-9180T>A)
c.177T>A (p.Thr59=)
c.222T>A (p.Thr74=)
n.913T>A
1g.11285693T>CCA416045252UBIAD1c.579T>C (p.Thr193=)
c.530-9180T>C (n.530-9180T>C)
c.177T>C (p.Thr59=)
c.222T>C (p.Thr74=)
n.913T>C
1g.11285693T>GCA416045251UBIAD1c.579T>G (p.Thr193=)
c.530-9180T>G (n.530-9180T>G)
c.177T>G (p.Thr59=)
c.222T>G (p.Thr74=)
n.913T>G
1g.11285694T>ACA338691823UBIAD1c.580T>A (p.Phe194Ile)
c.530-9179T>A (n.530-9179T>A)
c.178T>A (p.Phe60Ile)
c.223T>A (p.Phe75Ile)
n.914T>A
1g.11285694T>CCA338691824UBIAD1c.580T>C (p.Phe194Leu)
c.530-9179T>C (n.530-9179T>C)
c.178T>C (p.Phe60Leu)
c.223T>C (p.Phe75Leu)
n.914T>C
1g.11285694T>GCA338691825UBIAD1c.580T>G (p.Phe194Val)
c.530-9179T>G (n.530-9179T>G)
c.178T>G (p.Phe60Val)
c.223T>G (p.Phe75Val)
n.914T>G
1g.11285695T>ACA338691826UBIAD1c.581T>A (p.Phe194Tyr)
c.530-9178T>A (n.530-9178T>A)
c.179T>A (p.Phe60Tyr)
c.224T>A (p.Phe75Tyr)
n.915T>A
1g.11285695T>CCA338691827UBIAD1c.581T>C (p.Phe194Ser)
c.530-9178T>C (n.530-9178T>C)
c.179T>C (p.Phe60Ser)
c.224T>C (p.Phe75Ser)
n.915T>C
1g.11285695T>GCA338691828UBIAD1c.581T>G (p.Phe194Cys)
c.530-9178T>G (n.530-9178T>G)
c.179T>G (p.Phe60Cys)
c.224T>G (p.Phe75Cys)
n.915T>G
1g.11285696T>ACA338691829UBIAD1c.582T>A (p.Phe194Leu)
c.530-9177T>A (n.530-9177T>A)
c.180T>A (p.Phe60Leu)
c.225T>A (p.Phe75Leu)
n.916T>A
1g.11285696T>CCA416045257UBIAD1c.582T>C (p.Phe194=)
c.530-9177T>C (n.530-9177T>C)
c.180T>C (p.Phe60=)
c.225T>C (p.Phe75=)
n.916T>C
 gnomAD v4
1g.11285696T>GCA338691830UBIAD1c.582T>G (p.Phe194Leu)
c.530-9177T>G (n.530-9177T>G)
c.180T>G (p.Phe60Leu)
c.225T>G (p.Phe75Leu)
n.916T>G
1g.11285697G>ACA338691831UBIAD1c.583G>A (p.Gly195Ser)
c.530-9176G>A (n.530-9176G>A)
c.181G>A (p.Gly61Ser)
c.226G>A (p.Gly76Ser)
n.917G>A
1g.11285697G>CCA338691832UBIAD1c.583G>C (p.Gly195Arg)
c.530-9176G>C (n.530-9176G>C)
c.181G>C (p.Gly61Arg)
c.226G>C (p.Gly76Arg)
n.917G>C
1g.11285697G>TCA338691833UBIAD1c.583G>T (p.Gly195Cys)
c.530-9176G>T (n.530-9176G>T)
c.181G>T (p.Gly61Cys)
c.226G>T (p.Gly76Cys)
n.917G>T
1g.11285698G>ACA338691835UBIAD1c.584G>A (p.Gly195Asp)
c.530-9175G>A (n.530-9175G>A)
c.182G>A (p.Gly61Asp)
c.227G>A (p.Gly76Asp)
n.918G>A
1g.11285698G>CCA338691836UBIAD1c.584G>C (p.Gly195Ala)
c.530-9175G>C (n.530-9175G>C)
c.182G>C (p.Gly61Ala)
c.227G>C (p.Gly76Ala)
n.918G>C
1g.11285698G>TCA338691834UBIAD1c.584G>T (p.Gly195Val)
c.530-9175G>T (n.530-9175G>T)
c.182G>T (p.Gly61Val)
c.227G>T (p.Gly76Val)
n.918G>T
1g.11285699C>ACA416045258UBIAD1c.585C>A (p.Gly195=)
c.530-9174C>A (n.530-9174C>A)
c.183C>A (p.Gly61=)
c.228C>A (p.Gly76=)
n.919C>A
1g.11285699C=CA1153600531UBIAD1c.585C= (p.Gly195=)
c.530-9174C= (n.530-9174C=)
c.183C= (p.Gly61=)
c.228C= (p.Gly76=)
n.919C=
1g.11285699C>GCA416045259UBIAD1c.585C>G (p.Gly195=)
c.530-9174C>G (n.530-9174C>G)
c.183C>G (p.Gly61=)
c.228C>G (p.Gly76=)
n.919C>G
1g.11285699C>TCA591186UBIAD1c.585C>T (p.Gly195=)
c.530-9174C>T (n.530-9174C>T)
c.183C>T (p.Gly61=)
c.228C>T (p.Gly76=)
n.919C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285701delCA2695435015UBIAD1c.587del (p.Pro196ArgfsTer4)
c.530-9172del (n.530-9172del)
c.185del (p.Pro62ArgfsTer4)
c.230del (p.Pro77ArgfsTer4)
n.921del
 dbSNP
1g.11285700C>ACA338691837UBIAD1c.586C>A (p.Pro196Thr)
c.530-9173C>A (n.530-9173C>A)
c.184C>A (p.Pro62Thr)
c.229C>A (p.Pro77Thr)
n.920C>A
1g.11285700C>GCA338691838UBIAD1c.586C>G (p.Pro196Ala)
c.530-9173C>G (n.530-9173C>G)
c.184C>G (p.Pro62Ala)
c.229C>G (p.Pro77Ala)
n.920C>G
1g.11285700C>TCA338691839UBIAD1c.586C>T (p.Pro196Ser)
c.530-9173C>T (n.530-9173C>T)
c.184C>T (p.Pro62Ser)
c.229C>T (p.Pro77Ser)
n.920C>T
1g.11285701C>ACA338691840UBIAD1c.587C>A (p.Pro196Gln)
c.530-9172C>A (n.530-9172C>A)
c.185C>A (p.Pro62Gln)
c.230C>A (p.Pro77Gln)
n.921C>A
1g.11285701C=CA1153600533UBIAD1c.587C= (p.Pro196=)
c.530-9172C= (n.530-9172C=)
c.185C= (p.Pro62=)
c.230C= (p.Pro77=)
n.921C=
1g.11285701C>GCA338691841UBIAD1c.587C>G (p.Pro196Arg)
c.530-9172C>G (n.530-9172C>G)
c.185C>G (p.Pro62Arg)
c.230C>G (p.Pro77Arg)
n.921C>G
1g.11285701C>TCA338691842UBIAD1c.587C>T (p.Pro196Leu)
c.530-9172C>T (n.530-9172C>T)
c.185C>T (p.Pro62Leu)
c.230C>T (p.Pro77Leu)
n.921C>T
 dbSNP gnomAD v2 gnomAD v4
1g.11285702G>ACA416045263UBIAD1c.588G>A (p.Pro196=)
c.530-9171G>A (n.530-9171G>A)
c.186G>A (p.Pro62=)
c.231G>A (p.Pro77=)
n.922G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11285702G>CCA416045264UBIAD1c.588G>C (p.Pro196=)
c.530-9171G>C (n.530-9171G>C)
c.186G>C (p.Pro62=)
c.231G>C (p.Pro77=)
n.922G>C
 dbSNP
1g.11285702G=CA1153600538UBIAD1c.588G= (p.Pro196=)
c.530-9171G= (n.530-9171G=)
c.186G= (p.Pro62=)
c.231G= (p.Pro77=)
n.922G=
1g.11285702G>TCA416045265UBIAD1c.588G>T (p.Pro196=)
c.530-9171G>T (n.530-9171G>T)
c.186G>T (p.Pro62=)
c.231G>T (p.Pro77=)
n.922G>T
 dbSNP gnomAD v2 gnomAD v4
1g.11285703C>ACA338691843UBIAD1c.589C>A (p.Leu197Met)
c.530-9170C>A (n.530-9170C>A)
c.187C>A (p.Leu63Met)
c.232C>A (p.Leu78Met)
n.923C>A
1g.11285703C>GCA338691844UBIAD1c.589C>G (p.Leu197Val)
c.530-9170C>G (n.530-9170C>G)
c.187C>G (p.Leu63Val)
c.232C>G (p.Leu78Val)
n.923C>G
1g.11285703C>TCA416045266UBIAD1c.589C>T (p.Leu197=)
c.530-9170C>T (n.530-9170C>T)
c.187C>T (p.Leu63=)
c.232C>T (p.Leu78=)
n.923C>T
 gnomAD v4
1g.11285704T>ACA338691845UBIAD1c.590T>A (p.Leu197Gln)
c.530-9169T>A (n.530-9169T>A)
c.188T>A (p.Leu63Gln)
c.233T>A (p.Leu78Gln)
n.924T>A
1g.11285704T>CCA338691846UBIAD1c.590T>C (p.Leu197Pro)
c.530-9169T>C (n.530-9169T>C)
c.188T>C (p.Leu63Pro)
c.233T>C (p.Leu78Pro)
n.924T>C
1g.11285704T>GCA338691847UBIAD1c.590T>G (p.Leu197Arg)
c.530-9169T>G (n.530-9169T>G)
c.188T>G (p.Leu63Arg)
c.233T>G (p.Leu78Arg)
n.924T>G
1g.11285705G>ACA416045269UBIAD1c.591G>A (p.Leu197=)
c.530-9168G>A (n.530-9168G>A)
c.189G>A (p.Leu63=)
c.234G>A (p.Leu78=)
n.925G>A
1g.11285705G>CCA416045270UBIAD1c.591G>C (p.Leu197=)
c.530-9168G>C (n.530-9168G>C)
c.189G>C (p.Leu63=)
c.234G>C (p.Leu78=)
n.925G>C
1g.11285705G>TCA416045272UBIAD1c.591G>T (p.Leu197=)
c.530-9168G>T (n.530-9168G>T)
c.189G>T (p.Leu63=)
c.234G>T (p.Leu78=)
n.925G>T
1g.11285706G>ACA338691849UBIAD1c.592G>A (p.Ala198Thr)
c.530-9167G>A (n.530-9167G>A)
c.190G>A (p.Ala64Thr)
c.235G>A (p.Ala79Thr)
n.926G>A
1g.11285706G>CCA338691850UBIAD1c.592G>C (p.Ala198Pro)
c.530-9167G>C (n.530-9167G>C)
c.190G>C (p.Ala64Pro)
c.235G>C (p.Ala79Pro)
n.926G>C
1g.11285706G>TCA338691848UBIAD1c.592G>T (p.Ala198Ser)
c.530-9167G>T (n.530-9167G>T)
c.190G>T (p.Ala64Ser)
c.235G>T (p.Ala79Ser)
n.926G>T
1g.11285707C>ACA338691851UBIAD1c.593C>A (p.Ala198Asp)
c.530-9166C>A (n.530-9166C>A)
c.191C>A (p.Ala64Asp)
c.236C>A (p.Ala79Asp)
n.927C>A
1g.11285707C>GCA338691852UBIAD1c.593C>G (p.Ala198Gly)
c.530-9166C>G (n.530-9166C>G)
c.191C>G (p.Ala64Gly)
c.236C>G (p.Ala79Gly)
n.927C>G
1g.11285707C>TCA338691853UBIAD1c.593C>T (p.Ala198Val)
c.530-9166C>T (n.530-9166C>T)
c.191C>T (p.Ala64Val)
c.236C>T (p.Ala79Val)
n.927C>T
1g.11285707_11285713dupCA2643252859UBIAD1c.593_599dup (p.Met200IlefsTer?)
c.530-9166_530-9160dup (n.530-9166_530-9160dup)
c.191_197dup (p.Met66IlefsTer13)
c.236_242dup (p.Met81IlefsTer?)
c.593_599dup (p.Met200IlefsTer13)
n.927_933dup
 gnomAD v4
1g.11285708T>ACA416045273UBIAD1c.594T>A (p.Ala198=)
c.530-9165T>A (n.530-9165T>A)
c.192T>A (p.Ala64=)
c.237T>A (p.Ala79=)
n.928T>A
1g.11285708T>CCA416045274UBIAD1c.594T>C (p.Ala198=)
c.530-9165T>C (n.530-9165T>C)
c.192T>C (p.Ala64=)
c.237T>C (p.Ala79=)
n.928T>C
1g.11285708T>GCA416045275UBIAD1c.594T>G (p.Ala198=)
c.530-9165T>G (n.530-9165T>G)
c.192T>G (p.Ala64=)
c.237T>G (p.Ala79=)
n.928T>G
1g.11285709G>ACA338691854UBIAD1c.595G>A (p.Val199Met)
c.530-9164G>A (n.530-9164G>A)
c.193G>A (p.Val65Met)
c.238G>A (p.Val80Met)
n.929G>A
1g.11285709G>CCA338691855UBIAD1c.595G>C (p.Val199Leu)
c.530-9164G>C (n.530-9164G>C)
c.193G>C (p.Val65Leu)
c.238G>C (p.Val80Leu)
n.929G>C
1g.11285709G>TCA338691856UBIAD1c.595G>T (p.Val199Leu)
c.530-9164G>T (n.530-9164G>T)
c.193G>T (p.Val65Leu)
c.238G>T (p.Val80Leu)
n.929G>T
 gnomAD v4
1g.11285710T>ACA338691859UBIAD1c.596T>A (p.Val199Glu)
c.530-9163T>A (n.530-9163T>A)
c.194T>A (p.Val65Glu)
c.239T>A (p.Val80Glu)
n.930T>A
1g.11285710T>CCA338691857UBIAD1c.596T>C (p.Val199Ala)
c.530-9163T>C (n.530-9163T>C)
c.194T>C (p.Val65Ala)
c.239T>C (p.Val80Ala)
n.930T>C
1g.11285710T>GCA338691858UBIAD1c.596T>G (p.Val199Gly)
c.530-9163T>G (n.530-9163T>G)
c.194T>G (p.Val65Gly)
c.239T>G (p.Val80Gly)
n.930T>G
 dbSNP
1g.11285710T=CA1153600539UBIAD1c.596T= (p.Val199=)
c.530-9163T= (n.530-9163T=)
c.194T= (p.Val65=)
c.239T= (p.Val80=)
n.930T=
1g.11285711G>ACA416045279UBIAD1c.597G>A (p.Val199=)
c.530-9162G>A (n.530-9162G>A)
c.195G>A (p.Val65=)
c.240G>A (p.Val80=)
n.931G>A
1g.11285711G>CCA416045278UBIAD1c.597G>C (p.Val199=)
c.530-9162G>C (n.530-9162G>C)
c.195G>C (p.Val65=)
c.240G>C (p.Val80=)
n.931G>C
1g.11285711G>TCA416045277UBIAD1c.597G>T (p.Val199=)
c.530-9162G>T (n.530-9162G>T)
c.195G>T (p.Val65=)
c.240G>T (p.Val80=)
n.931G>T
1g.11285712A>CCA338691860UBIAD1c.598A>C (p.Met200Leu)
c.530-9161A>C (n.530-9161A>C)
c.196A>C (p.Met66Leu)
c.241A>C (p.Met81Leu)
n.932A>C
1g.11285712A>GCA338691861UBIAD1c.598A>G (p.Met200Val)
c.530-9161A>G (n.530-9161A>G)
c.196A>G (p.Met66Val)
c.241A>G (p.Met81Val)
n.932A>G
 gnomAD v4
1g.11285712A>TCA338691862UBIAD1c.598A>T (p.Met200Leu)
c.530-9161A>T (n.530-9161A>T)
c.196A>T (p.Met66Leu)
c.241A>T (p.Met81Leu)
n.932A>T
1g.11285713T>ACA338691863UBIAD1c.599T>A (p.Met200Lys)
c.530-9160T>A (n.530-9160T>A)
c.197T>A (p.Met66Lys)
c.242T>A (p.Met81Lys)
n.933T>A
1g.11285713T>CCA338691864UBIAD1c.599T>C (p.Met200Thr)
c.530-9160T>C (n.530-9160T>C)
c.197T>C (p.Met66Thr)
c.242T>C (p.Met81Thr)
n.933T>C
1g.11285713T>GCA338691865UBIAD1c.599T>G (p.Met200Arg)
c.530-9160T>G (n.530-9160T>G)
c.197T>G (p.Met66Arg)
c.242T>G (p.Met81Arg)
n.933T>G
1g.11285714G>ACA591187UBIAD1c.600G>A (p.Met200Ile)
c.530-9159G>A (n.530-9159G>A)
c.198G>A (p.Met66Ile)
c.243G>A (p.Met81Ile)
n.934G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285714G>CCA338691867UBIAD1c.600G>C (p.Met200Ile)
c.530-9159G>C (n.530-9159G>C)
c.198G>C (p.Met66Ile)
c.243G>C (p.Met81Ile)
n.934G>C
1g.11285714G=CA1153600542UBIAD1c.600G= (p.Met200=)
c.530-9159G= (n.530-9159G=)
c.198G= (p.Met66=)
c.243G= (p.Met81=)
n.934G=
1g.11285714G>TCA338691866UBIAD1c.600G>T (p.Met200Ile)
c.530-9159G>T (n.530-9159G>T)
c.198G>T (p.Met66Ile)
c.243G>T (p.Met81Ile)
n.934G>T
1g.11285715T>ACA338691869UBIAD1c.601T>A (p.Phe201Ile)
c.530-9158T>A (n.530-9158T>A)
c.199T>A (p.Phe67Ile)
c.244T>A (p.Phe82Ile)
n.935T>A
1g.11285715T>CCA338691868UBIAD1c.601T>C (p.Phe201Leu)
c.530-9158T>C (n.530-9158T>C)
c.199T>C (p.Phe67Leu)
c.244T>C (p.Phe82Leu)
n.935T>C
1g.11285715T>GCA338691870UBIAD1c.601T>G (p.Phe201Val)
c.530-9158T>G (n.530-9158T>G)
c.199T>G (p.Phe67Val)
c.244T>G (p.Phe82Val)
n.935T>G
1g.11285716T>ACA338691871UBIAD1c.602T>A (p.Phe201Tyr)
c.530-9157T>A (n.530-9157T>A)
c.200T>A (p.Phe67Tyr)
c.245T>A (p.Phe82Tyr)
n.936T>A
1g.11285716T>CCA338691873UBIAD1c.602T>C (p.Phe201Ser)
c.530-9157T>C (n.530-9157T>C)
c.200T>C (p.Phe67Ser)
c.245T>C (p.Phe82Ser)
n.936T>C
1g.11285716T>GCA338691872UBIAD1c.602T>G (p.Phe201Cys)
c.530-9157T>G (n.530-9157T>G)
c.200T>G (p.Phe67Cys)
c.245T>G (p.Phe82Cys)
n.936T>G
1g.11285717C>ACA338691874UBIAD1c.603C>A (p.Phe201Leu)
c.530-9156C>A (n.530-9156C>A)
c.201C>A (p.Phe67Leu)
c.246C>A (p.Phe82Leu)
n.937C>A
1g.11285717C=CA1153600544UBIAD1c.603C= (p.Phe201=)
c.530-9156C= (n.530-9156C=)
c.201C= (p.Phe67=)
c.246C= (p.Phe82=)
n.937C=
1g.11285717C>GCA338691875UBIAD1c.603C>G (p.Phe201Leu)
c.530-9156C>G (n.530-9156C>G)
c.201C>G (p.Phe67Leu)
c.246C>G (p.Phe82Leu)
n.937C>G
1g.11285717C>TCA591188UBIAD1c.603C>T (p.Phe201=)
c.530-9156C>T (n.530-9156C>T)
c.201C>T (p.Phe67=)
c.246C>T (p.Phe82=)
n.937C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285718G>ACA338691876UBIAD1c.604G>A (p.Ala202Thr)
c.530-9155G>A (n.530-9155G>A)
c.202G>A (p.Ala68Thr)
c.247G>A (p.Ala83Thr)
n.938G>A
 dbSNP gnomAD v4
1g.11285718G>CCA338691877UBIAD1c.604G>C (p.Ala202Pro)
c.530-9155G>C (n.530-9155G>C)
c.202G>C (p.Ala68Pro)
c.247G>C (p.Ala83Pro)
n.938G>C
1g.11285718G=CA1153600546UBIAD1c.604G= (p.Ala202=)
c.530-9155G= (n.530-9155G=)
c.202G= (p.Ala68=)
c.247G= (p.Ala83=)
n.938G=
1g.11285718G>TCA338691878UBIAD1c.604G>T (p.Ala202Ser)
c.530-9155G>T (n.530-9155G>T)
c.202G>T (p.Ala68Ser)
c.247G>T (p.Ala83Ser)
n.938G>T
 gnomAD v4
1g.11285719C>ACA338691879UBIAD1c.605C>A (p.Ala202Asp)
c.530-9154C>A (n.530-9154C>A)
c.203C>A (p.Ala68Asp)
c.248C>A (p.Ala83Asp)
n.939C>A
1g.11285719C>GCA338691880UBIAD1c.605C>G (p.Ala202Gly)
c.530-9154C>G (n.530-9154C>G)
c.203C>G (p.Ala68Gly)
c.248C>G (p.Ala83Gly)
n.939C>G
1g.11285719C>TCA338691881UBIAD1c.605C>T (p.Ala202Val)
c.530-9154C>T (n.530-9154C>T)
c.203C>T (p.Ala68Val)
c.248C>T (p.Ala83Val)
n.939C>T
1g.11285720C>ACA416045284UBIAD1c.606C>A (p.Ala202=)
c.530-9153C>A (n.530-9153C>A)
c.204C>A (p.Ala68=)
c.249C>A (p.Ala83=)
n.940C>A
1g.11285720C>GCA416045285UBIAD1c.606C>G (p.Ala202=)
c.530-9153C>G (n.530-9153C>G)
c.204C>G (p.Ala68=)
c.249C>G (p.Ala83=)
n.940C>G
1g.11285720C>TCA416045286UBIAD1c.606C>T (p.Ala202=)
c.530-9153C>T (n.530-9153C>T)
c.204C>T (p.Ala68=)
c.249C>T (p.Ala83=)
n.940C>T
1g.11285721T>ACA338691882UBIAD1c.607T>A (p.Tyr203Asn)
c.530-9152T>A (n.530-9152T>A)
c.205T>A (p.Tyr69Asn)
c.250T>A (p.Tyr84Asn)
n.941T>A
1g.11285721T>CCA338691883UBIAD1c.607T>C (p.Tyr203His)
c.530-9152T>C (n.530-9152T>C)
c.205T>C (p.Tyr69His)
c.250T>C (p.Tyr84His)
n.941T>C
1g.11285721T>GCA338691884UBIAD1c.607T>G (p.Tyr203Asp)
c.530-9152T>G (n.530-9152T>G)
c.205T>G (p.Tyr69Asp)
c.250T>G (p.Tyr84Asp)
n.941T>G
1g.11285722A=CA1153600547UBIAD1c.608A= (p.Tyr203=)
c.530-9151A= (n.530-9151A=)
c.206A= (p.Tyr69=)
c.251A= (p.Tyr84=)
n.942A=
1g.11285722A>CCA338691885UBIAD1c.608A>C (p.Tyr203Ser)
c.530-9151A>C (n.530-9151A>C)
c.206A>C (p.Tyr69Ser)
c.251A>C (p.Tyr84Ser)
n.942A>C
1g.11285722A>GCA338691886UBIAD1c.608A>G (p.Tyr203Cys)
c.530-9151A>G (n.530-9151A>G)
c.206A>G (p.Tyr69Cys)
c.251A>G (p.Tyr84Cys)
n.942A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.11285722A>TCA338691887UBIAD1c.608A>T (p.Tyr203Phe)
c.530-9151A>T (n.530-9151A>T)
c.206A>T (p.Tyr69Phe)
c.251A>T (p.Tyr84Phe)
n.942A>T
 dbSNP
1g.11285723C>ACA338691889UBIAD1c.609C>A (p.Tyr203Ter)
c.530-9150C>A (n.530-9150C>A)
c.207C>A (p.Tyr69Ter)
c.252C>A (p.Tyr84Ter)
n.943C>A
1g.11285723C=CA1153600549UBIAD1c.609C= (p.Tyr203=)
c.530-9150C= (n.530-9150C=)
c.207C= (p.Tyr69=)
c.252C= (p.Tyr84=)
n.943C=
1g.11285723C>GCA338691888UBIAD1c.609C>G (p.Tyr203Ter)
c.530-9150C>G (n.530-9150C>G)
c.207C>G (p.Tyr69Ter)
c.252C>G (p.Tyr84Ter)
n.943C>G
1g.11285723C>TCA591189UBIAD1c.609C>T (p.Tyr203=)
c.530-9150C>T (n.530-9150C>T)
c.207C>T (p.Tyr69=)
c.252C>T (p.Tyr84=)
n.943C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285724G>ACA591190UBIAD1c.610G>A (p.Ala204Thr)
c.530-9149G>A (n.530-9149G>A)
c.208G>A (p.Ala70Thr)
c.253G>A (p.Ala85Thr)
n.944G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.11285724G>CCA338691890UBIAD1c.610G>C (p.Ala204Pro)
c.530-9149G>C (n.530-9149G>C)
c.208G>C (p.Ala70Pro)
c.253G>C (p.Ala85Pro)
n.944G>C
1g.11285724G=CA1153600552UBIAD1c.610G= (p.Ala204=)
c.530-9149G= (n.530-9149G=)
c.208G= (p.Ala70=)
c.253G= (p.Ala85=)
n.944G=
1g.11285724G>TCA338691891UBIAD1c.610G>T (p.Ala204Ser)
c.530-9149G>T (n.530-9149G>T)
c.208G>T (p.Ala70Ser)
c.253G>T (p.Ala85Ser)
n.944G>T
1g.11285725C>ACA338691892UBIAD1c.611C>A (p.Ala204Asp)
c.530-9148C>A (n.530-9148C>A)
c.209C>A (p.Ala70Asp)
c.254C>A (p.Ala85Asp)
n.945C>A
1g.11285725C>GCA338691893UBIAD1c.611C>G (p.Ala204Gly)
c.530-9148C>G (n.530-9148C>G)
c.209C>G (p.Ala70Gly)
c.254C>G (p.Ala85Gly)
n.945C>G
1g.11285725C>TCA338691894UBIAD1c.611C>T (p.Ala204Val)
c.530-9148C>T (n.530-9148C>T)
c.209C>T (p.Ala70Val)
c.254C>T (p.Ala85Val)
n.945C>T
 gnomAD v4
1g.11285726C>ACA416045290UBIAD1c.612C>A (p.Ala204=)
c.530-9147C>A (n.530-9147C>A)
c.210C>A (p.Ala70=)
c.255C>A (p.Ala85=)
n.946C>A
1g.11285726C=CA1153600553UBIAD1c.612C= (p.Ala204=)
c.530-9147C= (n.530-9147C=)
c.210C= (p.Ala70=)
c.255C= (p.Ala85=)
n.946C=
1g.11285726C>GCA416045291UBIAD1c.612C>G (p.Ala204=)
c.530-9147C>G (n.530-9147C>G)
c.210C>G (p.Ala70=)
c.255C>G (p.Ala85=)
n.946C>G
1g.11285726C>TCA591191UBIAD1c.612C>T (p.Ala204=)
c.530-9147C>T (n.530-9147C>T)
c.210C>T (p.Ala70=)
c.255C>T (p.Ala85=)
n.946C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.11285727A=CA1153600554UBIAD1c.613A= (p.Ile205=)
c.530-9146A= (n.530-9146A=)
c.211A= (p.Ile71=)
c.256A= (p.Ile86=)
n.947A=
1g.11285727A>CCA338691895UBIAD1c.613A>C (p.Ile205Leu)
c.530-9146A>C (n.530-9146A>C)
c.211A>C (p.Ile71Leu)
c.256A>C (p.Ile86Leu)
n.947A>C
 gnomAD v4
1g.11285727A>GCA338691896UBIAD1c.613A>G (p.Ile205Val)
c.530-9146A>G (n.530-9146A>G)
c.211A>G (p.Ile71Val)
c.256A>G (p.Ile86Val)
n.947A>G
 dbSNP gnomAD v3 gnomAD v4
1g.11285727A>TCA338691897UBIAD1c.613A>T (p.Ile205Phe)
c.530-9146A>T (n.530-9146A>T)
c.211A>T (p.Ile71Phe)
c.256A>T (p.Ile86Phe)
n.947A>T
1g.11285728T>ACA338691899UBIAD1c.614T>A (p.Ile205Asn)
c.530-9145T>A (n.530-9145T>A)
c.212T>A (p.Ile71Asn)
c.257T>A (p.Ile86Asn)
n.948T>A
1g.11285728T>CCA591192UBIAD1c.614T>C (p.Ile205Thr)
c.530-9145T>C (n.530-9145T>C)
c.212T>C (p.Ile71Thr)
c.257T>C (p.Ile86Thr)
n.948T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.11285728T>GCA338691898UBIAD1c.614T>G (p.Ile205Ser)
c.530-9145T>G (n.530-9145T>G)
c.212T>G (p.Ile71Ser)
c.257T>G (p.Ile86Ser)
n.948T>G
1g.11285728T=CA1153600555UBIAD1c.614T= (p.Ile205=)
c.530-9145T= (n.530-9145T=)
c.212T= (p.Ile71=)
c.257T= (p.Ile86=)
n.948T=

Number of alleles fetched