| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108187279C>T | CA10487762 | COL4A6 | c.1768G>A (p.Gly590Ser) c.1771G>A (p.Gly591Ser) c.1687G>A (p.Gly563Ser) n.1893G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108187279C= | CA2450551431 | COL4A6 | c.1768G= (p.Gly590=) c.1771G= (p.Gly591=) c.1687G= (p.Gly563=) n.1893G= | dbSNP |