| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108621803G>T | CA261082 | COL4A5 | c.2678G>T (p.Gly893Val) n.2134G>T c.2354G>T (p.Gly785Val) c.251G>T (p.Gly84Val) c.2693G>T (p.Gly898Val) c.1013G>T (p.Gly338Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108621803G>C | CA413851841 | COL4A5 | c.2678G>C (p.Gly893Ala) n.2134G>C c.2354G>C (p.Gly785Ala) c.251G>C (p.Gly84Ala) c.2693G>C (p.Gly898Ala) c.1013G>C (p.Gly338Ala) | ClinVar dbSNP |