| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986383-C-G | MC1R | c.717C>G | p.G239= | Synonymous | 1/1 | - |
| 16-89987359-A-T | MC1R | c.*739A>T | - | 3-UTRSNV | 1/1 | - |
| 16-89985553-G-A | MC1R | c.1-114G>A | - | 5-UTRSNV | 1/1 | - |
| 15-28356859-C-T | HERC2 | c.*50G>A | - | 3-UTRSNV | 93/93 | - |
| 16-89985557-A-C | MC1R | c.1-110A>C | - | 5-UTRSNV | 1/1 | - |
| 16-89985557-A-T | MC1R | c.1-110A>T | - | 5-UTRSNV | 1/1 | - |
| 9-12709305-C-A | TYRP1 | c.*123C>A | - | 3-UTRSNV | 8/8 | - |
| 14-92801203-G-A | SLC24A4 | c.241+8881G>A | - | IntronicSNV | - | 2/16 |
| 16-89818732-C-G | FANCA | c.2982-102G>C | - | IntronicSNV | - | 30/42 |
| 16-89985311-A-G | MC1R | c.1-356A>G | - | 5-UTRSNV | 1/1 | - |
| 16-89987201-A-G | MC1R | c.*581A>G | - | 3-UTRSNV | 1/1 | - |
| 20-33218090-G-A | PIGU | c.529+4329C>T | - | IntronicSNV | - | 6/11 |
| 16-89986752-T-C | MC1R | c.*132T>C | - | 3-UTRSNV | 1/1 | - |
| 5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 15-28335820-A-G | OCA2 | c.-22+8550T>C | - | intron_variant | - | 1/23 |
| 15-28335820-A-T | OCA2 | c.-22+8550T>A | - | intron_variant | - | 1/23 |
| 16-89986546-G-C | MC1R | c.880G>C | p.D294H | Missense | 1/1 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.R142H | Missense | 1/1 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.D84E | Missense | 1/1 | - |
| 16-89986144-C-T | MC1R | c.478C>T | p.R160W | Missense | 1/1 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.I155T | Missense | 1/1 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.V60L | Missense | 1/1 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.R163Q | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.V92M | Missense | 1/1 | - |
| 16-89986181-G-T | MC1R | c.515G>T | p.S172I | Missense | 1/1 | - |
| 15-28260053-G-A | OCA2 | c.913C>T | p.R305W | Missense | 9/24 | - |
| 15-28230318-C-T | OCA2 | c.1256G>A | p.R419Q | Missense | 13/24 | - |
| 11-88911696-C-A | TYR | c.575C>A | p.S192Y | Missense | 1/5 | - |
| 16-89986303-C-G | MC1R | c.637C>G | p.R213G | Missense | 1/1 | - |
| 16-89986303-C-T | MC1R | c.637C>T | p.R213W | Missense | 1/1 | - |
| 16-89986221-C-T | MC1R | c.555C>T | p.H185= | Synonymous | 1/1 | - |
| 16-89986158-C-T | MC1R | c.492C>T | p.A164= | Synonymous | 1/1 | - |
| 16-89986181-G-A | MC1R | c.515G>A | p.S172N | Missense | 1/1 | - |
| 16-89986383-C-T | MC1R | c.717C>T | p.G239= | Synonymous | 1/1 | - |
| 16-89985778-G-A | MC1R | c.112G>A | p.V38M | Missense | 1/1 | - |
| 16-89985913-T-C | MC1R | c.247T>C | p.S83P | Missense | 1/1 | - |
| 16-89986122-C-A | MC1R | c.456C>A | p.Y152* | Nonsense | 1/1 | - |
| 16-89986503-C-A | MC1R | c.837C>A | p.N279K | Missense | 1/1 | - |
| 16-89986583-G-A | MC1R | c.917G>A | p.R306H | Missense | 1/1 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.T314= | Synonymous | 1/1 | - |
| 16-89986111-G-A | MC1R | c.445G>A | p.A149T | Missense | 1/1 | - |
| 16-89985950-C-T | MC1R | c.284C>T | p.T95M | Missense | 1/1 | - |
| 11-68846399-A-C | TPCN2 | c.1450A>C | p.M484L | Missense | 16/25 | - |
| 11-68846399-A-T | TPCN2 | c.1450A>T | p.M484L | Missense | 16/25 | - |
| 16-89985750-C-CA | MC1R | c.86_86dup | p.N29Kfs*14 | Frameshift | 1/1 | - |
| 16-89986202-T-TC | MC1R | c.537_537dup | p.I180Hfs*59 | Frameshift | 1/1 | - |