| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110166251T>G | CA202933 | COL4A1 | c.4002A>C (p.Gln1334His) c.158A>C c.3810A>C (p.Gln1270His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110166251T>A | CA7047070 | COL4A1 | c.4002A>T (p.Gln1334His) c.158A>T c.3810A>T (p.Gln1270His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |