| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155300271C>T | CA115036 | PKLR | c.110G>A (p.Gly37Glu) c.-21-62G>A (n.-21-62G>A) c.17G>A (p.Gly6Glu) c.77-62G>A (n.77-62G>A) c.269G>A (p.Gly90Glu) c.-83G>A (n.-83G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155300271C>A | CA1144447 | PKLR | c.110G>T (p.Gly37Val) c.-21-62G>T (n.-21-62G>T) c.17G>T (p.Gly6Val) c.77-62G>T (n.77-62G>T) c.269G>T (p.Gly90Val) c.-83G>T (n.-83G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |