| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45509554C>T | CA16043568 | COL18A1,SLC19A1 | c.3988C>T (p.Arg1330Ter) c.3448C>T (p.Arg1150Ter) c.1492C>T (p.Arg498Ter) c.4693C>T (p.Arg1565Ter) c.498-10942G>A c.402C>T n.1774C>T c.1294-10942G>A (n.1294-10942G>A) c.3979C>T (p.Arg1327Ter) c.4684C>T (p.Arg1562Ter) c.3439C>T (p.Arg1147Ter) c.1585-6585G>A (n.1585-6585G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45509554C>G | CA410501122 | COL18A1,SLC19A1 | c.3988C>G (p.Arg1330Gly) c.3448C>G (p.Arg1150Gly) c.1492C>G (p.Arg498Gly) c.4693C>G (p.Arg1565Gly) c.498-10942G>C c.402C>G n.1774C>G c.1294-10942G>C (n.1294-10942G>C) c.3979C>G (p.Arg1327Gly) c.4684C>G (p.Arg1562Gly) c.3439C>G (p.Arg1147Gly) c.1585-6585G>C (n.1585-6585G>C) | dbSNP gnomAD v4 |