Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7837073A>GCA568784PER3c.3473A>G (p.His1158Arg)
c.3446A>G (p.His1149Arg)
n.266A>G
c.3416A>G (p.His1139Arg)
c.3395A>G (p.His1132Arg)
c.2513A>G (p.His838Arg)
c.3470A>G (p.His1157Arg)
c.3452A>G (p.His1151Arg)
c.2948A>G (p.His983Arg)
c.3449A>G (p.His1150Arg)
c.3305A>G (p.His1102Arg)
c.3125A>G (p.His1042Arg)
c.3110A>G (p.His1037Arg)
c.3467A>G (p.His1156Arg)
c.3122A>G (p.His1041Arg)
c.3101A>G (p.His1034Arg)
c.3104A>G (p.His1035Arg)
c.2945A>G (p.His982Arg)
c.2081A>G (p.His694Arg)
c.2078A>G (p.His693Arg)
c.2927A>G (p.His976Arg)
c.2924A>G (p.His975Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837073A=CA1140186316PER3c.3473A= (p.His1158=)
c.3446A= (p.His1149=)
n.266A=
c.3416A= (p.His1139=)
c.3395A= (p.His1132=)
c.2513A= (p.His838=)
c.3470A= (p.His1157=)
c.3452A= (p.His1151=)
c.2948A= (p.His983=)
c.3449A= (p.His1150=)
c.3305A= (p.His1102=)
c.3125A= (p.His1042=)
c.3110A= (p.His1037=)
c.3467A= (p.His1156=)
c.3122A= (p.His1041=)
c.3101A= (p.His1034=)
c.3104A= (p.His1035=)
c.2945A= (p.His982=)
c.2081A= (p.His694=)
c.2078A= (p.His693=)
c.2927A= (p.His976=)
c.2924A= (p.His975=)
dbSNP
1g.7837073A>CCA338156673PER3c.3473A>C (p.His1158Pro)
c.3446A>C (p.His1149Pro)
n.266A>C
c.3416A>C (p.His1139Pro)
c.3395A>C (p.His1132Pro)
c.2513A>C (p.His838Pro)
c.3470A>C (p.His1157Pro)
c.3452A>C (p.His1151Pro)
c.2948A>C (p.His983Pro)
c.3449A>C (p.His1150Pro)
c.3305A>C (p.His1102Pro)
c.3125A>C (p.His1042Pro)
c.3110A>C (p.His1037Pro)
c.3467A>C (p.His1156Pro)
c.3122A>C (p.His1041Pro)
c.3101A>C (p.His1034Pro)
c.3104A>C (p.His1035Pro)
c.2945A>C (p.His982Pro)
c.2081A>C (p.His694Pro)
c.2078A>C (p.His693Pro)
c.2927A>C (p.His976Pro)
c.2924A>C (p.His975Pro)
dbSNP gnomAD v4

Number of alleles fetched