| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49365794T>G | CA9571760 | DKKL1 | c.326T>G (p.Met109Arg) c.-10+3888T>G (n.-10+3888T>G) c.101T>G (p.Met34Arg) c.324+145T>G (n.324+145T>G) c.100+1040T>G c.371T>G (p.Met124Arg) c.341T>G (p.Met114Arg) c.395T>G (p.Met132Arg) c.347T>G (p.Met116Arg) c.393+145T>G (n.393+145T>G) c.252+1040T>G (n.252+1040T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49365794T= | CA2340367689 | DKKL1 | c.326T= (p.Met109=) c.-10+3888T= (n.-10+3888T=) c.101T= (p.Met34=) c.324+145T= (n.324+145T=) c.100+1040T= c.371T= (p.Met124=) c.341T= (p.Met114=) c.395T= (p.Met132=) c.347T= (p.Met116=) c.393+145T= (n.393+145T=) c.252+1040T= (n.252+1040T=) | dbSNP |