Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
15-28526228-G-A | HERC2 | c.323-795C>T | - | IntronicSNV | - | 4/92 |
16-90024202-G-A | DEF8 | c.555+134G>A | - | IntronicSNV | - | 5/12 |
15-28365733-C-A | HERC2 | c.13272+759G>T | - | IntronicSNV | - | 86/92 |
15-28535266-A-C | HERC2 | c.322+2768T>G | - | IntronicSNV | - | 4/92 |
15-28199305-A-C | OCA2 | c.1842+999T>G | - | IntronicSNV | - | 17/23 |
16-89836323-C-T | FANCA | c.2426G>A | p.Gly809Asp | Missense | 26/43 | - |
5-33986409-C-T | AMACR | c.*2789G>A | - | IntergenicSNV | 5/5 | - |
16-90141477-T-G | PRDM7 | c.194-46A>C | - | IntronicSNV | - | 2/9 |
15-28488888-T-C | HERC2 | c.3577+2139A>G | - | IntronicSNV | - | 23/92 |
16-89726484-G-T | SPATA33 | c.208+1655G>T | - | IntronicSNV | - | 2/2 |
16-90141477-T-A | PRDM7 | c.194-46A>T | - | IntronicSNV | - | 2/9 |
16-89692298-A-G | DPEP1 | c.1-4521A>G | - | IntronicSNV | - | 1/10 |
15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
5-33986409-C-G | AMACR | c.*2789G>C | - | IntergenicSNV | 5/5 | - |
16-89692298-A-T | DPEP1 | c.1-4521A>T | - | IntronicSNV | - | 1/10 |
5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
5-33963870-C-T | SLC45A2 | c.814G>A | p.Glu272Lys | Missense | 3/7 | - |
6-518078-G-A | EXOC2 | c.2380+14391C>T | - | IntronicSNV | - | 23/27 |
5-33955673-T-C | SLC45A2 | c.889-1064A>G | - | IntronicSNV | - | 3/6 |
6-542159-A-G | EXOC2 | c.2238+7016T>C | - | IntronicSNV | - | 22/27 |
16-89755903-A-T | CDK10 | c.-54+171A>T | - | intron_variant | - | 2/12 |
16-89755903-A-G | CDK10 | c.-54+171A>G | - | intron_variant | - | 2/12 |
15-28328765-G-A | OCA2 | c.1-1745C>T | - | IntronicSNV | - | 1/23 |
16-89726484-G-A | SPATA33 | c.208+1655G>A | - | IntronicSNV | - | 2/2 |
16-89795485-C-T | ZNF276 | c.861-158C>T | - | IntronicSNV | - | 5/10 |
6-535839-G-A | EXOC2 | c.2239-3229C>T | - | IntronicSNV | - | 22/27 |
6-535839-G-T | EXOC2 | c.2239-3229C>A | - | IntronicSNV | - | 22/27 |
16-89385561-C-T | ANKRD11 | c.1-2134G>A | - | IntronicSNV | - | 2/12 |
15-28516084-C-T | HERC2 | c.1084-70G>A | - | IntronicSNV | - | 9/92 |
11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
15-28513364-T-C | HERC2 | c.1598+247A>G | - | IntronicSNV | - | 12/92 |
15-28513364-T-G | HERC2 | c.1598+247A>C | - | IntronicSNV | - | 12/92 |
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 |
15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |