| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32949767C>A | CA363596651 | HLA-DMA | c.496G>T (p.Val166Phe) c.394G>T (p.Val132Phe) c.211G>T (p.Val71Phe) c.397G>T (p.Val133Phe) c.88+3182G>T (n.88+3182G>T) c.586G>T (p.Val196Phe) n.423G>T n.1197G>T | dbSNP gnomAD v4 |
| 6 | g.32949767C>T | CA3747728 | HLA-DMA | c.496G>A (p.Val166Ile) c.394G>A (p.Val132Ile) c.211G>A (p.Val71Ile) c.397G>A (p.Val133Ile) c.88+3182G>A (n.88+3182G>A) c.586G>A (p.Val196Ile) n.423G>A n.1197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |