| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.48728228G>T | CA288227 | HOXB13 | c.366C>A (p.Ser122Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.48728228G>A | CA8633998 | HOXB13 | c.366C>T (p.Ser122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.48728228G= | CA2263242516 | HOXB13 | c.366C= (p.Ser122=) | dbSNP |
| 17 | g.48728228G>C | CA400107610 | HOXB13 | c.366C>G (p.Ser122Arg) | dbSNP |