| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626299G>C | CA258825 | COL4A5 | c.3196G>C (p.Gly1066Arg) n.2652G>C c.429G>C c.2872G>C (p.Gly958Arg) c.769G>C (p.Gly257Arg) c.3211G>C (p.Gly1071Arg) c.1531G>C (p.Gly511Arg) | dbSNP |
| X | g.108626299G>T | CA10489043 | COL4A5 | c.3196G>T (p.Gly1066Cys) n.2652G>T c.429G>T c.2872G>T (p.Gly958Cys) c.769G>T (p.Gly257Cys) c.3211G>T (p.Gly1071Cys) c.1531G>T (p.Gly511Cys) | dbSNP ExAC |
| X | g.108626299G>A | CA258827 | COL4A5 | c.3196G>A (p.Gly1066Ser) n.2652G>A c.429G>A c.2872G>A (p.Gly958Ser) c.769G>A (p.Gly257Ser) c.3211G>A (p.Gly1071Ser) c.1531G>A (p.Gly511Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |