| 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 |
| 1 | g.155293556G>T | CA342752930 | PKLR | c.1151C>A (p.Thr384Lys) c.1058C>A (p.Thr353Lys) c.1310C>A (p.Thr437Lys) c.959C>A (p.Thr320Lys) c.*19C>A (n.*19C>A) | dbSNP gnomAD v4 |
| 1 | g.155293556G= | CA1140886801 | PKLR | c.1151C= (p.Thr384=) c.1058C= (p.Thr353=) c.1310C= (p.Thr437=) c.959C= (p.Thr320=) c.*19C= (n.*19C=) | dbSNP dbSNP |