| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108606812G>A | CA258656 | COL4A5 | c.2315G>A (p.Gly772Asp) n.1771G>A c.1991G>A (p.Gly664Asp) c.-33+3751G>A (n.-33+3751G>A) c.2330G>A (p.Gly777Asp) c.650G>A (p.Gly217Asp) | dbSNP |
| X | g.108606812G>C | CA258658 | COL4A5 | c.2315G>C (p.Gly772Ala) n.1771G>C c.1991G>C (p.Gly664Ala) c.-33+3751G>C (n.-33+3751G>C) c.2330G>C (p.Gly777Ala) c.650G>C (p.Gly217Ala) | ClinVar dbSNP |
| X | g.108606812G>T | CA413848967 | COL4A5 | c.2315G>T (p.Gly772Val) n.1771G>T c.1991G>T (p.Gly664Val) c.-33+3751G>T (n.-33+3751G>T) c.2330G>T (p.Gly777Val) c.650G>T (p.Gly217Val) | ClinVar dbSNP |