Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
15-28200408-T-C | OCA2 | c.1785-47A>G | - | IntronicSNV | - | 16/23 |
15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
15-28356859-C-T | HERC2 | c.*50G>A | - | 3-UTRSNV | 93/93 | - |
16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |