| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31241963A>G | CA11062293 | EHD3 | c.228-2311A>G (n.228-2311A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.31241963A>T | CA1242056767 | EHD3 | c.228-2311A>T (n.228-2311A>T) | dbSNP |
| 2 | g.31241963A>C | CA1242056766 | EHD3 | c.228-2311A>C (n.228-2311A>C) | dbSNP |