| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 15-28513364-T-C | HERC2 | c.1598+247A>G | - | IntronicSNV | - | 12/92 |
| 15-28359258-G-A | HERC2 | c.13914-434C>T | - | IntronicSNV | - | 90/92 |
| 15-28513364-T-G | HERC2 | c.1598+247A>C | - | IntronicSNV | - | 12/92 |
| 15-28386626-C-T | HERC2 | c.11967G>A | p.Gln3989Gln | Synonymous | 78/93 | - |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 2-80605790-A-G | CTNNA2 | c.1057-14546A>G | - | IntronicSNV | - | 7/17 |
| 15-28374012-T-A | HERC2 | c.12802+1297A>T | - | IntronicSNV | - | 83/92 |
| 15-28374012-T-C | HERC2 | c.12802+1297A>G | - | IntronicSNV | - | 83/92 |
| 15-28356859-C-T | HERC2 | c.*50G>A | - | 3-UTRSNV | 93/93 | - |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |