| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.30171922G>A | CA3695999 | TRIM15 | c.971G>A (p.Ser324Asn) c.305-642G>A (n.305-642G>A) c.458G>A c.764G>A (p.Ser255Asn) c.656G>A (p.Ser219Asn) c.350G>A (p.Ser117Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.30171922G>C | CA363058659 | TRIM15 | c.971G>C (p.Ser324Thr) c.305-642G>C (n.305-642G>C) c.458G>C c.764G>C (p.Ser255Thr) c.656G>C (p.Ser219Thr) c.350G>C (p.Ser117Thr) | dbSNP gnomAD v4 |
| 6 | g.30171922G>T | CA363058658 | TRIM15 | c.971G>T (p.Ser324Ile) c.305-642G>T (n.305-642G>T) c.458G>T c.764G>T (p.Ser255Ile) c.656G>T (p.Ser219Ile) c.350G>T (p.Ser117Ile) | dbSNP gnomAD v4 |
| 6 | g.30171922G= | CA1618618932 | TRIM15 | c.971G= (p.Ser324=) c.305-642G= (n.305-642G=) c.458G= c.764G= (p.Ser255=) c.656G= (p.Ser219=) c.350G= (p.Ser117=) | dbSNP |