| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110179298C>T | CA16606390 | COL4A1 | c.2317G>A (p.Gly773Arg) n.2447G>A c.2125G>A (p.Gly709Arg) | ClinVar dbSNP |
| 13 | g.110179298C>G | CA273011 | COL4A1 | c.2317G>C (p.Gly773Arg) n.2447G>C c.2125G>C (p.Gly709Arg) | ClinVar dbSNP |
| 13 | g.110179298C= | CA2118732850 | COL4A1 | c.2317G= (p.Gly773=) n.2447G= c.2125G= (p.Gly709=) | dbSNP |