| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89805261-A-G | FANCA | c.4260+29T>C | - | IntronicSNV | - | 42/42 |
| 16-89805261-A-C | FANCA | c.4260+29T>G | - | IntronicSNV | - | 42/42 |
| 16-89869761-T-C | FANCA | c.710-12A>G | - | IntronicSNV | - | 7/42 |
| 15-28526228-G-A | HERC2 | c.323-795C>T | - | IntronicSNV | - | 4/92 |
| 15-28181981-T-G | OCA2 | c.1952-10581A>C | - | IntronicSNV | - | 18/23 |
| 15-28181981-T-A | OCA2 | c.1952-10581A>T | - | IntronicSNV | - | 18/23 |
| 16-89385561-C-T | ANKRD11 | c.1-2134G>A | - | IntronicSNV | - | 2/12 |
| 16-89712889-C-G | CHMP1A | c.569+46G>C | - | IntronicSNV | - | 6/6 |
| 16-89712889-C-T | CHMP1A | c.569+46G>A | - | IntronicSNV | - | 6/6 |
| 16-89836323-C-T | FANCA | c.2426G>A | p.Gly809Asp | Missense | 26/43 | - |
| 15-28535266-A-C | HERC2 | c.322+2768T>G | - | IntronicSNV | - | 4/92 |
| 16-89726484-G-A | SPATA33 | c.208+1655G>A | - | IntronicSNV | - | 2/2 |
| 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 |
| 16-89386808-A-G | ANKRD11 | c.1-3381T>C | - | IntronicSNV | - | 2/12 |
| 15-28520506-A-G | HERC2 | c.543-355T>C | - | IntronicSNV | - | 5/92 |
| 16-89814807-T-C | FANCA | c.3348+260A>G | - | IntronicSNV | - | 33/42 |
| 16-89692298-A-T | DPEP1 | c.1-4521A>T | - | IntronicSNV | - | 1/10 |
| 16-89692298-A-G | DPEP1 | c.1-4521A>G | - | IntronicSNV | - | 1/10 |
| 6-535839-G-T | EXOC2 | c.2239-3229C>A | - | IntronicSNV | - | 22/27 |
| 16-89730827-T-G | SPATA33 | c.209-4867T>G | - | IntronicSNV | - | 2/2 |
| 16-89730827-T-C | SPATA33 | c.209-4867T>C | - | IntronicSNV | - | 2/2 |
| 16-89875710-A-C | FANCA | c.523-935T>G | - | IntronicSNV | - | 5/42 |
| 16-89869761-T-G | FANCA | c.710-12A>C | - | IntronicSNV | - | 7/42 |
| 16-90037828-G-A | CENPBD1 | c.503C>T | p.Thr168Ile | Missense | 1/1 | - |
| 16-90037828-G-C | CENPBD1 | c.503C>G | p.Thr168Arg | Missense | 1/1 | - |
| 5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
| 16-89648580-C-T | CPNE7 | c.498-1272C>T | - | IntronicSNV | - | 3/16 |
| 6-518078-G-A | EXOC2 | c.2380+14391C>T | - | IntronicSNV | - | 23/27 |
| 15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
| 16-89352678-G-C | ANKRD11 | c.745-84C>G | - | IntronicSNV | - | 7/12 |
| 16-89755903-A-T | CDK10 | c.-54+171A>T | - | intron_variant | - | 2/12 |
| 16-89344477-C-T | ANKRD11 | c.7470+1003G>A | - | IntronicSNV | - | 9/12 |
| 6-535839-G-A | EXOC2 | c.2239-3229C>T | - | IntronicSNV | - | 22/27 |
| 15-28221138-G-A | OCA2 | c.1503+7353C>T | - | IntronicSNV | - | 14/23 |
| 5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
| 16-89352678-G-A | ANKRD11 | c.745-84C>T | - | IntronicSNV | - | 7/12 |
| 15-28513364-T-C | HERC2 | c.1598+247A>G | - | IntronicSNV | - | 12/92 |
| 16-89764549-G-A | SPATA2L | c.468C>T | p.Phe156Phe | Synonymous | 3/3 | - |
| 16-89344477-C-G | ANKRD11 | c.7470+1003G>C | - | IntronicSNV | - | 9/12 |
| 15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
| 15-28513364-T-G | HERC2 | c.1598+247A>C | - | IntronicSNV | - | 12/92 |
| 15-28516084-C-T | HERC2 | c.1084-70G>A | - | IntronicSNV | - | 9/92 |
| 15-28386626-C-T | HERC2 | c.11967G>A | p.Gln3989Gln | Synonymous | 78/93 | - |
| 15-28494032-G-A | HERC2 | c.3051-150C>T | - | IntronicSNV | - | 20/92 |
| 15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
| 16-90130136-C-T | PRDM7 | c.392G>A | p.Arg131Lys | Missense | 5/10 | - |
| 14-92801203-G-A | SLC24A4 | c.241+8881G>A | - | IntronicSNV | - | 2/16 |
| 15-28199853-C-A | OCA2 | c.1842+451G>T | - | IntronicSNV | - | 17/23 |
| 16-89755903-A-G | CDK10 | c.-54+171A>G | - | intron_variant | - | 2/12 |
| 15-28157259-G-T | OCA2 | c.2079+14014C>A | - | IntronicSNV | - | 19/23 |
| 16-90024202-G-A | DEF8 | c.555+134G>A | - | IntronicSNV | - | 5/12 |
| 15-28365733-C-A | HERC2 | c.13272+759G>T | - | IntronicSNV | - | 86/92 |
| 16-89851033-C-G | FANCA | c.1470+229G>C | - | IntronicSNV | - | 15/42 |
| 16-89603586-A-G | SPG7 | c.1324+4542A>G | - | IntronicSNV | - | 9/16 |
| 16-89851033-C-T | FANCA | c.1470+229G>A | - | IntronicSNV | - | 15/42 |
| 16-89656251-T-C | CPNE7 | c.1287-54T>C | - | IntronicSNV | - | 12/16 |
| 16-89920025-C-T | SPIRE2 | c.646-669C>T | - | IntronicSNV | - | 3/14 |
| 5-33986409-C-G | AMACR | c.*2789G>C | - | IntergenicSNV | 5/5 | - |
| 5-33986409-C-T | AMACR | c.*2789G>A | - | IntergenicSNV | 5/5 | - |
| 5-33955673-T-C | SLC45A2 | c.889-1064A>G | - | IntronicSNV | - | 3/6 |
| 6-542159-A-G | EXOC2 | c.2238+7016T>C | - | IntronicSNV | - | 22/27 |
| 16-89355278-A-G | ANKRD11 | c.602-200T>C | - | IntronicSNV | - | 6/12 |
| 16-89294439-G-T | ZNF778 | c.1659G>T | p.Gln553His | Missense | 6/6 | - |
| 16-89294439-G-A | ZNF778 | c.1659G>A | p.Gln553Gln | Synonymous | 6/6 | - |
| 15-28328765-G-A | OCA2 | c.1-1745C>T | - | IntronicSNV | - | 1/23 |
| 15-28199305-A-C | OCA2 | c.1842+999T>G | - | IntronicSNV | - | 17/23 |
| 16-89795485-C-T | ZNF276 | c.861-158C>T | - | IntronicSNV | - | 5/10 |
| 15-28488888-T-C | HERC2 | c.3577+2139A>G | - | IntronicSNV | - | 23/92 |
| 16-89754255-T-G | CDK10 | c.-127+1088T>G | - | intron_variant | - | 1/12 |