| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 6-396321-C-T | IRF4 | c.492+386C>T | - | IntronicSNV | - | 4/8 |
| 7-111718012-T-A | DOCK4 | c.38-73826A>T | - | IntronicSNV | - | 1/51 |
| 7-111718012-T-C | DOCK4 | c.38-73826A>G | - | IntronicSNV | - | 1/51 |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 7-104402709-G-A | LHFPL3 | c.682+25351G>A | - | IntronicSNV | - | 2/2 |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 7-55086755-G-C | EGFR | c.1-216G>C | - | 5-UTRSNV | 1/28 | - |
| 7-55086755-G-T | EGFR | c.1-216G>T | - | 5-UTRSNV | 1/28 | - |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 2-212409848-C-A | ERBB4 | c.2487+16780G>T | - | IntronicSNV | - | 20/26 |
| 5-56111582-A-T | MAP3K1 | c.182A>T | p.Gln61Leu | Missense | 1/20 | - |
| 22-30351473-T-C | MTMR3 | c.1-15576T>C | - | IntronicSNV | - | 1/19 |
| 19-2109157-T-G | AP3D1 | c.3400A>C | p.Ile1134Leu | Missense | 30/32 | - |
| 5-56210923-G-A | SETD9 | c.812+130G>A | - | IntronicSNV | - | 5/5 |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 22-38563471-C-T | PLA2G6 | c.209+1754G>A | - | IntronicSNV | - | 2/15 |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 7-104382873-T-C | LHFPL3 | c.682+5515T>C | - | IntronicSNV | - | 2/2 |
| 19-2109157-T-C | AP3D1 | c.3400A>G | p.Ile1134Val | Missense | 30/32 | - |
| 22-39358037-A-C | APOBEC3A | c.470-66A>C | - | IntronicSNV | - | 3/4 |
| 7-55251593-A-G | EGFR | c.2469+2422A>G | - | IntronicSNV | - | 20/27 |
| 20-54961541-A-T | AURKA | c.91T>A | p.Phe31Ile | Missense | 3/9 | - |
| 5-56111582-A-G | MAP3K1 | c.182A>G | p.Gln61Arg | Missense | 1/20 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |