Table 2. Presumed nonpathogenic variants found in this study.
Gene | Exon | Nucleotide change | Codon | SNP |
---|---|---|---|---|
AIPL1 |
Exon3 |
c.276–10 A>C |
rs12453262 |
|
c.300A>G |
p. L100L |
rs8075035 |
||
PITPNM3 |
Exon4 |
IVS3+56G>T |
rs11656015 |
|
Exon6 |
c.477C>T |
p.S159S |
rs145362623 |
|
GUCY2D |
Exon3 |
c.741C>T |
p.H243H |
rs3829789 |
Exon10 | c.2100C>T | p.P700P | rs34598902 |