Table 2

Differences in the number of alleles reported in gnomAD and in our database for the most frequent pathogenic variants

Pathogenic variantALMSDBgnomAD
p.(Arg2722Ter)/p.(Arg2720Ter)284
p.(Gln3495Ter)/p.(Gln3493Ter)2211
p.(Thr3592LysfsTer6)/p.(Thr3590LysfsTer6)1414
p.(Glu3773TrpfsTer18)/p.(Glu3771TrpfsTer18)116
p.(Pro3911GlnfsTer16)100
  • The differences in nomenclature are due to the Mutalyzer software using RefSeq (NM_015120.4) as a reference, while gnomAD uses Ensembl (ENST00000264448.6). ALMSDB: Alström syndrome database.