Gene Symbol | Individual | Sex | Nucleotide changea | Amino acid change | Exon (zygosity, segregation) | Amino acid sequence conservationb | dbSNPc | gnomADd | PP2e | MTf | PROVEANg | SIFTh |
---|---|---|---|---|---|---|---|---|---|---|---|---|
WFS1 | 30–22 | F | c.2419A > C | p.Ser807Arg | 8 (het, Mo) | M. musculus, G. gallus, X. tropicalis, D. rerio | ND | ND | Possibly Dam (0.890) | DC (0.999) | Del (−2.75) | Dam (0.012) |