Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
1-8663821-G-A | RERE | c.522+10799C>T | - | IntronicSNV | - | 4/22 |
20-33867697-A-G | EIF6 | c.546+48T>C | - | IntronicSNV | - | 5/6 |
11-71169547-G-C | NADSYN1 | c.220G>C | p.Val74Leu | Missense | 3/21 | - |
11-71169547-G-A | NADSYN1 | c.220G>A | p.Val74Met | Missense | 3/21 | - |
15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
15-28443658-G-T | HERC2 | c.7886-9C>A | - | IntronicSNV | - | 49/92 |
6-31856070-G-A | EHMT2 | c.1510-17C>T | - | IntronicSNV | - | 12/27 |
4-38894380-A-G | FAM114A1 | c.436+929A>G | - | IntronicSNV | - | 4/14 |