cDNA position* Site of variant Variant name^ Consequence Patient rs number
c.297C >T exon 5 p.Thr99= synonymous PF4 rs11539873
c.399-35G >A intron 5     PF2 rs11591594
c.507+61C >G intron 6     PF1, PF4 rs1886728
c.636C >T exon 7 p.Leu212= synonymous PF1, PF3 rs1801287
c.937+78C >T intron 10     PF4 rs1061134
c.937+88C >T intron 10     PF4 rs34533614
c.1187delC exon 13 p.Q397SfsX1 frameshift PF1  
c.1315C >T exon 13 p.R439X stop codon PF1  
c.1335+48G >A intron 13     PF4 rs41317034
c.1397+7G >C intron 14     PF3 rs2296432
c.1397+8G >C intron 14     PF3 rs2296433
c.1472C >G exon 15 p.Pro491Arg nonsynonymous PF4 rs2296434
c.1808A >G exon 18 p.Gln603Arg nonsynonymous PF4 rs2296436
*based on accesion number NM_000195.3
^based on accesion number NP_000186.2
Table 2: Identified variants in HPS1 gene.