| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110155300C>T | CA388655536 | COL4A1 | c.4738G>A (p.Gly1580Ser) n.906G>A c.894G>A c.4546G>A (p.Gly1516Ser) | ClinVar dbSNP |
| 13 | g.110155300C>G | CA341460 | COL4A1 | c.4738G>C (p.Gly1580Arg) n.906G>C c.894G>C c.4546G>C (p.Gly1516Arg) | ClinVar dbSNP |
| 13 | g.110155300C= | CA2118725495 | COL4A1 | c.4738G= (p.Gly1580=) n.906G= c.894G= c.4546G= (p.Gly1516=) | dbSNP |