| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108694921G>A | CA259123 | COL4A5 | c.4821G>A (p.Met1607Ile) c.4803G>A (p.Met1601Ile) n.1315G>A n.1307G>A c.219G>A (p.Met73Ile) c.325-1376G>A c.4812G>A (p.Met1604Ile) c.4497G>A (p.Met1499Ile) c.2394G>A (p.Met798Ile) c.4836G>A (p.Met1612Ile) c.4827G>A (p.Met1609Ile) c.4818G>A (p.Met1606Ile) c.3156G>A (p.Met1052Ile) | ClinVar dbSNP |
| X | g.108694921G>C | CA414132626 | COL4A5 | c.4821G>C (p.Met1607Ile) c.4803G>C (p.Met1601Ile) n.1315G>C n.1307G>C c.219G>C (p.Met73Ile) c.325-1376G>C c.4812G>C (p.Met1604Ile) c.4497G>C (p.Met1499Ile) c.2394G>C (p.Met798Ile) c.4836G>C (p.Met1612Ile) c.4827G>C (p.Met1609Ile) c.4818G>C (p.Met1606Ile) c.3156G>C (p.Met1052Ile) | ClinVar dbSNP |