Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
21-39819830-C-T | ERG | c.19-2286G>A | - | IntronicSNV | - | 1/9 |
12-57534470-G-A | LRP1 | c.191-687G>A | - | IntronicSNV | - | 2/88 |
12-57534470-G-C | LRP1 | c.191-687G>C | - | IntronicSNV | - | 2/88 |
21-39819830-C-A | ERG | c.19-2286G>T | - | IntronicSNV | - | 1/9 |
2-20878820-T-A | GDF7 | c.*7635T>A | - | IntergenicSNV | 2/2 | - |
2-20878820-T-C | GDF7 | c.*7635T>C | - | IntergenicSNV | 2/2 | - |
7-150696111-T-A | NOS3 | c.894T>A | p.D298E | Missense | 8/27 | - |
7-150696111-T-G | NOS3 | c.894T>G | p.D298E | Missense | 8/27 | - |
3-52256697-C-A | TLR9 | c.1635G>T | p.P545= | Synonymous | 2/2 | - |
3-52256697-C-G | TLR9 | c.1635G>C | p.P545= | Synonymous | 2/2 | - |
3-52256697-C-T | TLR9 | c.1635G>A | p.P545= | Synonymous | 2/2 | - |
9-107620867-C-T | ABCA1 | c.656G>A | p.R219K | Missense | 7/50 | - |
7-73470714-G-A | ELN | c.1264G>A | p.G422S | Missense | 20/33 | - |
7-73470714-G-C | ELN | c.1264G>C | p.G422R | Missense | 20/33 | - |
3-148459395-C-T | AGTR1 | c.573C>T | p.L191= | Synonymous | 3/3 | - |
1-55505647-G-A | PCSK9 | c.137G>A | p.R46H | Missense | 1/12 | - |
1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
4-187004217-C-T | TLR3 | c.1377C>T | p.F459= | Synonymous | 4/5 | - |
9-101883808-A-G | TGFBR1 | c.98-7329A>G | - | IntronicSNV | - | 1/8 |
4-187004217-C-A | TLR3 | c.1377C>A | p.F459L | Missense | 4/5 | - |
19-51323473-C-G | KLK1 | c.433G>C | p.E145Q | Missense | 3/5 | - |
9-101883808-A-T | TGFBR1 | c.98-7329A>T | - | IntronicSNV | - | 1/8 |