| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 20-33576989-C-G | MYH7B | c.1714-554C>G | - | IntronicSNV | - | 19/44 |
| 16-89692298-A-G | DPEP1 | c.1-4521A>G | - | IntronicSNV | - | 1/10 |
| 5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
| 5-33986409-C-G | AMACR | c.*2789G>C | - | IntergenicSNV | 5/5 | - |
| 16-89692298-A-T | DPEP1 | c.1-4521A>T | - | IntronicSNV | - | 1/10 |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 16-89755903-A-G | CDK10 | c.-54+171A>G | - | intron_variant | - | 2/12 |
| 16-89755903-A-T | CDK10 | c.-54+171A>T | - | intron_variant | - | 2/12 |
| 6-542159-A-G | EXOC2 | c.2238+7016T>C | - | IntronicSNV | - | 22/27 |
| 20-33171772-G-A | PIGU | c.926+1469C>T | - | IntronicSNV | - | 9/11 |
| 15-28328765-G-A | OCA2 | c.1-1745C>T | - | IntronicSNV | - | 1/23 |
| 11-68855363-G-A | TPCN2 | c.2201G>A | p.Gly734Glu | Missense | 25/25 | - |
| 16-89726484-G-A | SPATA33 | c.208+1655G>A | - | IntronicSNV | - | 2/2 |
| 12-52913668-C-T | KRT5 | c.413G>A | p.Gly138Glu | Missense | 1/9 | - |
| 20-33355046-G-A | NCOA6 | c.514+1221C>T | - | IntronicSNV | - | 5/14 |
| 16-89385561-C-T | ANKRD11 | c.1-2134G>A | - | IntronicSNV | - | 2/12 |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 16-89795485-C-T | ZNF276 | c.861-158C>T | - | IntronicSNV | - | 5/10 |
| 20-33171772-G-C | PIGU | c.926+1469C>G | - | IntronicSNV | - | 9/11 |
| 15-28516084-C-T | HERC2 | c.1084-70G>A | - | IntronicSNV | - | 9/92 |
| 20-32856998-A-G | ASIP | c.*25A>G | - | 3-UTRSNV | 3/3 | - |
| 12-52912909-G-T | KRT5 | c.591C>A | p.Asp197Glu | Missense | 2/9 | - |
| 11-88911696-C-A | TYR | c.575C>A | p.Ser192Tyr | Missense | 1/5 | - |
| 9-21816528-A-G | MTAP | c.121-185A>G | - | IntronicSNV | - | 2/7 |
| 11-89017961-G-A | TYR | c.1205G>A | p.Arg402Gln | Missense | 4/5 | - |
| 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 |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 15-28488888-T-C | HERC2 | c.3577+2139A>G | - | IntronicSNV | - | 23/92 |
| 11-68846399-A-C | TPCN2 | c.1450A>C | p.Met484Leu | Missense | 16/25 | - |
| 11-68846399-A-T | TPCN2 | c.1450A>T | p.Met484Leu | Missense | 16/25 | - |
| 16-90024202-G-A | DEF8 | c.555+134G>A | - | IntronicSNV | - | 5/12 |
| 12-52912909-G-C | KRT5 | c.591C>G | p.Asp197Glu | Missense | 2/9 | - |
| 5-33986409-C-T | AMACR | c.*2789G>A | - | IntergenicSNV | 5/5 | - |
| 1-17722363-G-A | PADI6 | c.1618+204G>A | - | intron_variant | - | 14/16 |
| 15-28199305-A-C | OCA2 | c.1842+999T>G | - | IntronicSNV | - | 17/23 |
| 15-28365733-C-A | HERC2 | c.13272+759G>T | - | IntronicSNV | - | 86/92 |
| 16-89836323-C-T | FANCA | c.2426G>A | p.Gly809Asp | Missense | 26/43 | - |
| 16-90141477-T-G | PRDM7 | c.194-46A>C | - | IntronicSNV | - | 2/9 |
| 16-89726484-G-T | SPATA33 | c.208+1655G>T | - | IntronicSNV | - | 2/2 |
| 16-90141477-T-A | PRDM7 | c.194-46A>T | - | IntronicSNV | - | 2/9 |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |