| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687641G>C | CA259048 | COL4A5 | c.4475G>C (p.Gly1492Ala) c.4457G>C (p.Gly1486Ala) n.969G>C c.271G>C c.4466G>C (p.Gly1489Ala) c.4151G>C (p.Gly1384Ala) c.2048G>C (p.Gly683Ala) c.4490G>C (p.Gly1497Ala) c.4481G>C (p.Gly1494Ala) c.4472G>C (p.Gly1491Ala) c.2810G>C (p.Gly937Ala) | ClinVar dbSNP |
| X | g.108687641G>T | CA413854609 | COL4A5 | c.4475G>T (p.Gly1492Val) c.4457G>T (p.Gly1486Val) n.969G>T c.271G>T c.4466G>T (p.Gly1489Val) c.4151G>T (p.Gly1384Val) c.2048G>T (p.Gly683Val) c.4490G>T (p.Gly1497Val) c.4481G>T (p.Gly1494Val) c.4472G>T (p.Gly1491Val) c.2810G>T (p.Gly937Val) | ClinVar dbSNP gnomAD v4 |