Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
4-47633117-T-C | CORIN | c.1887-4579A>G | - | IntronicSNV | - | 14/19 |
4-47592650-G-A | ATP10D | c.3942-409G>A | - | IntronicSNV | - | 22/22 |
15-28530182-C-T | HERC2 | c.323-4749G>A | - | IntronicSNV | - | 4/92 |
4-47619803-G-A | CORIN | c.2228+5785C>T | - | IntronicSNV | - | 17/19 |
15-28530182-C-A | HERC2 | c.323-4749G>T | - | IntronicSNV | - | 4/92 |
2-69978290-T-A | ANXA4 | c.-47+8983T>A | - | intron_variant | - | 1/12 |
7-100466441-G-T | TRIP6 | c.688G>T | p.Val230Phe | Missense | 4/9 | - |
7-100466441-G-A | TRIP6 | c.688G>A | p.Val230Ile | Missense | 4/9 | - |
2-69978290-T-G | ANXA4 | c.-47+8983T>G | - | intron_variant | - | 1/12 |
4-38776491-T-G | TLR10 | c.721A>C | p.Asn241His | Missense | 2/2 | - |
5-40681840-C-T | PTGER4 | c.745C>T | p.Pro249Ser | Missense | 2/3 | - |
4-38830350-A-G | TLR6 | c.745T>C | p.Ser249Pro | Missense | 2/2 | - |
5-33958959-C-A | SLC45A2 | c.889-4350G>T | - | IntronicSNV | - | 3/6 |
12-53086645-G-A | KRT77 | c.1100C>T | p.Thr367Met | Missense | 6/9 | - |