| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 3-55979964-A-G | ERC2 | c.2403+4489T>C | - | IntronicSNV | - | 13/17 |
| 3-55979964-A-T | ERC2 | c.2403+4489T>A | - | IntronicSNV | - | 13/17 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 5-38868472-C-T | OSMR | c.1-675C>T | - | IntronicSNV | - | 1/17 |
| 18-53210302-G-T | TCF4 | c.145+42209C>A | - | IntronicSNV | - | 3/19 |
| 7-45932669-A-G | IGFBP1 | c.759A>G | p.Ile253Met | Missense | 4/4 | - |
| 8-11157460-T-G | MTMR9 | c.292-72T>G | - | IntronicSNV | - | 2/9 |
| 8-11281273-A-T | FAM167A | c.*609T>A | - | 3-UTRSNV | 3/3 | - |
| 10-14016290-G-A | FRMD4A | c.46-115378C>T | - | IntronicSNV | - | 2/24 |
| 8-11281273-A-G | FAM167A | c.*609T>C | - | 3-UTRSNV | 3/3 | - |
| 6-32605884-C-T | HLA-DQA1 | c.82+567C>T | - | IntronicSNV | - | 1/4 |
| 1-32501215-A-G | KHDRBS1 | c.772-1296A>G | - | IntronicSNV | - | 4/8 |
| 8-11157460-T-C | MTMR9 | c.292-72T>C | - | IntronicSNV | - | 2/9 |
| 8-10629061-G-T | PINX1 | c.472-5635C>A | - | IntronicSNV | - | 6/6 |
| 8-10629061-G-C | PINX1 | c.472-5635C>G | - | IntronicSNV | - | 6/6 |
| 3-124804204-A-C | SLC12A8 | c.1983-1308T>G | - | IntronicSNV | - | 13/13 |
| 10-14021822-G-A | FRMD4A | c.46-120910C>T | - | IntronicSNV | - | 2/24 |
| 1-67648596-G-A | IL23R | c.445G>A | p.Gly149Arg | Missense | 4/11 | - |
| 8-10632684-G-A | PINX1 | c.472-9258C>T | - | IntronicSNV | - | 6/6 |
| 3-65760342-T-C | MAGI1 | c.314-152579A>G | - | IntronicSNV | - | 1/22 |
| 15-74219582-G-T | LOXL1 | c.458G>T | p.Gly153Val | Missense | 1/7 | - |
| 15-74219582-G-C | LOXL1 | c.458G>C | p.Gly153Ala | Missense | 1/7 | - |
| 11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
| 15-74219582-G-A | LOXL1 | c.458G>A | p.Gly153Asp | Missense | 1/7 | - |
| 7-40847909-G-A | SUGCT | c.1142-52006G>A | - | IntronicSNV | - | 14/14 |
| 2-239799547-A-C | TWIST2 | c.*168+4442A>C | - | intron_variant | - | 9/9 |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 16-89986117-C-A | MC1R | c.451C>A | p.Arg151Ser | Missense | 1/1 | - |
| 16-89986117-C-G | MC1R | c.451C>G | p.Arg151Gly | Missense | 1/1 | - |
| 2-228864662-C-T | SPHKAP | c.4449-4252G>A | - | IntronicSNV | - | 7/10 |
| 15-66420236-G-T | MEGF11 | c.98+408C>A | - | IntronicSNV | - | 2/22 |
| 15-74229195-G-A | LOXL1 | c.1103-6000G>A | - | IntronicSNV | - | 1/6 |
| 20-3185123-A-T | DDRGK1 | c.91+60T>A | - | IntronicSNV | - | 1/8 |
| 20-3185123-A-C | DDRGK1 | c.91+60T>G | - | IntronicSNV | - | 1/8 |
| 5-96118866-C-G | ERAP1 | c.2174G>C | p.Arg725Pro | Missense | 15/20 | - |
| 5-96118866-C-T | ERAP1 | c.2174G>A | p.Arg725Gln | Missense | 15/20 | - |
| 10-99304801-C-T | UBTD1 | c.71-22870C>T | - | IntronicSNV | - | 1/2 |