| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.25843883C>T | CA513904206 | MYO18B | c.3357C>T (p.His1119=) c.3360C>T (p.His1120=) n.1928C>T c.*815C>T (n.*815C>T) c.3486C>T (p.His1162=) c.3483C>T (p.His1161=) c.3003C>T (p.His1001=) c.822C>T (p.His274=) c.819C>T (p.His273=) | dbSNP |
| 22 | g.25843883C>A | CA10160531 | MYO18B | c.3357C>A (p.His1119Gln) c.3360C>A (p.His1120Gln) n.1928C>A c.*815C>A (n.*815C>A) c.3486C>A (p.His1162Gln) c.3483C>A (p.His1161Gln) c.3003C>A (p.His1001Gln) c.822C>A (p.His274Gln) c.819C>A (p.His273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.25843883C>G | CA410998098 | MYO18B | c.3357C>G (p.His1119Gln) c.3360C>G (p.His1120Gln) n.1928C>G c.*815C>G (n.*815C>G) c.3486C>G (p.His1162Gln) c.3483C>G (p.His1161Gln) c.3003C>G (p.His1001Gln) c.822C>G (p.His274Gln) c.819C>G (p.His273Gln) | dbSNP gnomAD v2 gnomAD v4 |