| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 15-48426484-A-T | SLC24A5 | c.331A>T | p.Thr111Ser | Missense | 3/9 | - |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 15-28235773-C-T | OCA2 | c.1065G>A | p.Ala355Ala | Synonymous | 10/24 | - |
| 11-5248232-T-C | HBB | c.20A>G | p.Glu7Gly | Missense | 1/3 | - |
| 17-7592168-C-G | WRAP53 | c.202C>G | p.Arg68Gly | Missense | 1/10 | - |
| 17-7592168-C-T | WRAP53 | c.202C>T | p.Arg68Trp | Missense | 1/10 | - |
| 11-5248232-T-G | HBB | c.20A>C | p.Glu7Ala | Missense | 1/3 | - |
| 15-43737188-G-C | TP53BP1 | c.3040+1397C>G | - | IntronicSNV | - | 14/27 |
| 2-136608746-C-G | MCM6 | c.1917+226G>C | - | IntronicSNV | - | 13/16 |
| 1-207782889-A-G | CR1 | c.4801A>G | p.Arg1601Gly | Missense | 29/39 | - |
| 15-43737188-G-A | TP53BP1 | c.3040+1397C>T | - | IntronicSNV | - | 14/27 |
| 5-33951693-C-G | SLC45A2 | c.1122G>C | p.Leu374Phe | Missense | 5/7 | - |
| 1-159174683-T-C | ACKR1 | c.1-67T>C | - | 5-UTRSNV | 1/2 | - |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 5-33951693-C-A | SLC45A2 | c.1122G>T | p.Leu374Phe | Missense | 5/7 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 11-68855363-G-A | TPCN2 | c.2201G>A | p.Gly734Glu | Missense | 25/25 | - |
| 15-48426484-A-G | SLC24A5 | c.331A>G | p.Thr111Ala | Missense | 3/9 | - |
| 2-136608746-C-T | MCM6 | c.1917+226G>A | - | IntronicSNV | - | 13/16 |
| 11-88911696-C-A | TYR | c.575C>A | p.Ser192Tyr | Missense | 1/5 | - |
| 11-5248232-T-A | HBB | c.20A>T | p.Glu7Val | Missense | 1/3 | - |
| 2-136608646-G-A | MCM6 | c.1917+326C>T | - | IntronicSNV | - | 13/16 |
| 20-32856998-A-G | ASIP | c.*25A>G | - | 3-UTRSNV | 3/3 | - |
| 2-136608646-G-C | MCM6 | c.1917+326C>G | - | IntronicSNV | - | 13/16 |