Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-226564691-T-C | PARP1 | c.1941+118A>G | - | IntronicSNV | - | 13/22 |
15-28182715-C-T | OCA2 | c.1952-11315G>A | - | IntronicSNV | - | 18/23 |
20-32588095-T-C | RALY | c.-93+6158T>C | - | intron_variant | - | 1/8 |
20-32588095-T-G | RALY | c.-93+6158T>G | - | intron_variant | - | 1/8 |
9-21816528-A-G | MTAP | c.121-185A>G | - | IntronicSNV | - | 2/7 |
15-28538411-G-A | HERC2 | c.188-243C>T | - | IntronicSNV | - | 3/92 |
15-28530359-G-A | HERC2 | c.323-4926C>T | - | IntronicSNV | - | 4/92 |
15-28182715-C-G | OCA2 | c.1952-11315G>C | - | IntronicSNV | - | 18/23 |
11-68828929-G-T | TPCN2 | c.547-1423G>T | - | IntronicSNV | - | 5/24 |
15-28356859-C-T | HERC2 | c.*50G>A | - | 3-UTRSNV | 93/93 | - |
15-28475936-A-T | HERC2 | c.4676-290T>A | - | IntronicSNV | - | 30/92 |
5-1322087-C-T | CLPTM1L | c.1316-153G>A | - | IntronicSNV | - | 13/16 |
13-100020212-G-A | UBAC2 | c.822+52G>A | - | IntronicSNV | - | 6/6 |
21-42746081-C-T | MX2 | c.1-2753C>T | - | IntronicSNV | - | 1/13 |
15-28186985-G-A | OCA2 | c.1951+9945C>T | - | IntronicSNV | - | 18/23 |
15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
16-89755903-A-T | CDK10 | c.-54+171A>T | - | intron_variant | - | 2/12 |
11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
15-28186985-G-C | OCA2 | c.1951+9945C>G | - | IntronicSNV | - | 18/23 |
11-88930377-A-G | TYR | c.1036+5791A>G | - | IntronicSNV | - | 2/4 |
15-28494032-G-A | HERC2 | c.3051-150C>T | - | IntronicSNV | - | 20/92 |
1-226561064-C-A | PARP1 | c.2070+863G>T | - | IntronicSNV | - | 14/22 |
15-28529071-G-T | HERC2 | c.323-3638C>A | - | IntronicSNV | - | 4/92 |
15-28513364-T-G | HERC2 | c.1598+247A>C | - | IntronicSNV | - | 12/92 |
15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
1-226561064-C-T | PARP1 | c.2070+863G>A | - | IntronicSNV | - | 14/22 |
11-88911696-C-A | TYR | c.575C>A | p.Ser192Tyr | Missense | 1/5 | - |
15-28513364-T-C | HERC2 | c.1598+247A>G | - | IntronicSNV | - | 12/92 |
15-28386626-C-T | HERC2 | c.11967G>A | p.Gln3989Gln | Synonymous | 78/93 | - |
22-38545619-A-G | PLA2G6 | c.210-3959T>C | - | IntronicSNV | - | 2/15 |
15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
20-33171772-G-C | PIGU | c.926+1469C>G | - | IntronicSNV | - | 9/11 |
15-28186985-G-T | OCA2 | c.1951+9945C>A | - | IntronicSNV | - | 18/23 |
16-89755903-A-G | CDK10 | c.-54+171A>G | - | intron_variant | - | 2/12 |
11-68828929-G-A | TPCN2 | c.547-1423G>A | - | IntronicSNV | - | 5/24 |
15-28180137-C-T | OCA2 | c.1952-8737G>A | - | IntronicSNV | - | 18/23 |
15-28335820-A-G | OCA2 | c.-22+8550T>C | - | intron_variant | - | 1/23 |
15-28536119-C-G | HERC2 | c.322+1915G>C | - | IntronicSNV | - | 4/92 |
20-32622608-A-G | RALY | c.-10+3198A>G | - | intron_variant | - | 2/8 |
15-28455749-C-A | HERC2 | c.7069+399G>T | - | IntronicSNV | - | 44/92 |
15-28335820-A-T | OCA2 | c.-22+8550T>A | - | intron_variant | - | 1/23 |
22-38544298-A-G | PLA2G6 | c.210-2638T>C | - | IntronicSNV | - | 2/15 |
15-28455749-C-G | HERC2 | c.7069+399G>C | - | IntronicSNV | - | 44/92 |
20-33171772-G-A | PIGU | c.926+1469C>T | - | IntronicSNV | - | 9/11 |
11-68840160-A-G | TPCN2 | c.1127A>G | p.Lys376Arg | Missense | 12/25 | - |
15-28488888-T-C | HERC2 | c.3577+2139A>G | - | IntronicSNV | - | 23/92 |
5-1320247-G-A | CLPTM1L | c.1532+484C>T | - | IntronicSNV | - | 16/16 |
15-28185038-G-A | OCA2 | c.1951+11892C>T | - | IntronicSNV | - | 18/23 |
15-28185038-G-C | OCA2 | c.1951+11892C>G | - | IntronicSNV | - | 18/23 |
15-28538411-G-C | HERC2 | c.188-243C>G | - | IntronicSNV | - | 3/92 |