| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155293556G>C | CA342752928 | PKLR | c.1151C>G (p.Thr384Arg) c.1058C>G (p.Thr353Arg) c.1310C>G (p.Thr437Arg) c.959C>G (p.Thr320Arg) c.*19C>G (n.*19C>G) | dbSNP |
| 1 | g.155293556G>A | CA215075 | PKLR | c.1151C>T (p.Thr384Met) c.1058C>T (p.Thr353Met) c.1310C>T (p.Thr437Met) c.959C>T (p.Thr320Met) c.*19C>T (n.*19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |