| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225699G>T | CA125343 | HBB | c.343C>A (p.Leu115Met) n.275C>A c.*159C>A (n.*159C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225699G>A | CA472638516 | HBB | c.343C>T (p.Leu115=) n.275C>T c.*159C>T (n.*159C>T) | ClinVar dbSNP COSMIC |
| 11 | g.5225699G= | CA1949565072 | HBB | c.343C= (p.Leu115=) n.275C= c.*159C= (n.*159C=) | dbSNP |
| 11 | g.5225699G>C | CA379273730 | HBB | c.343C>G (p.Leu115Val) n.275C>G c.*159C>G (n.*159C>G) | dbSNP |