| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.12351693G>T | CA4165434 | VWDE | c.3766C>A (p.Gln1256Lys) c.379C>A (p.Gln127Lys) c.21C>A c.*530C>A (n.*530C>A) c.*2144C>A (n.*2144C>A) c.2128C>A (p.Gln710Lys) c.3904C>A (p.Gln1302Lys) n.4626C>A n.4241C>A c.3421C>A (p.Gln1141Lys) c.2956C>A (p.Gln986Lys) n.4664C>A n.4588C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.12351693G>C | CA366860596 | VWDE | c.3766C>G (p.Gln1256Glu) c.379C>G (p.Gln127Glu) c.21C>G c.*530C>G (n.*530C>G) c.*2144C>G (n.*2144C>G) c.2128C>G (p.Gln710Glu) c.3904C>G (p.Gln1302Glu) n.4626C>G n.4241C>G c.3421C>G (p.Gln1141Glu) c.2956C>G (p.Gln986Glu) n.4664C>G n.4588C>G | dbSNP |