Pathogenic variant | ALMSDB | gnomAD |
p.(Arg2722Ter)/p.(Arg2720Ter) | 28 | 4 |
p.(Gln3495Ter)/p.(Gln3493Ter) | 22 | 11 |
p.(Thr3592LysfsTer6)/p.(Thr3590LysfsTer6) | 14 | 14 |
p.(Glu3773TrpfsTer18)/p.(Glu3771TrpfsTer18) | 11 | 6 |
p.(Pro3911GlnfsTer16) | 10 | 0 |
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.