| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.38828729A>G | CA2889907 | TLR1,TLR6 | c.745T>C (p.Ser249Pro) c.-352-23536T>C (n.-352-23536T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.38828729A>C | CA356616955 | TLR1,TLR6 | c.745T>G (p.Ser249Ala) c.-352-23536T>G (n.-352-23536T>G) | ClinVar dbSNP |
| 4 | g.38828729A>T | CA356616956 | TLR1,TLR6 | c.745T>A (p.Ser249Thr) c.-352-23536T>A (n.-352-23536T>A) | dbSNP gnomAD v4 |