| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.38797027C>G | CA356609653 | TLR1 | c.1805G>C (p.Ser602Thr) n.235+3830G>C n.2079G>C c.205+3830G>C (n.205+3830G>C) | dbSNP |
| 4 | g.38797027C>A | CA119551 | TLR1 | c.1805G>T (p.Ser602Ile) n.235+3830G>T n.2079G>T c.205+3830G>T (n.205+3830G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.38797027C= | CA1451822465 | TLR1 | c.1805G= (p.Ser602=) n.235+3830G= n.2079G= c.205+3830G= (n.205+3830G=) | dbSNP |