| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43417679G>A | CA199551 | SIK1 | c.1840C>T (p.Gln614Ter) c.1693C>T (p.Gln565Ter) | ClinVar dbSNP |
| 21 | g.43417679G>C | CA410607186 | SIK1 | c.1840C>G (p.Gln614Glu) c.1693C>G (p.Gln565Glu) | dbSNP gnomAD v4 |
| 21 | g.43417679G= | CA2391216528 | SIK1 | c.1840C= (p.Gln614=) c.1693C= (p.Gln565=) | dbSNP |