| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10812271G>A | CA172101 | DNM2 | n.996G>A c.1565G>A (p.Arg522His) c.1553G>A (p.Arg518His) c.839G>A (p.Arg280His) n.3064G>A n.3753G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.10812271G>T | CA16043072 | DNM2 | n.996G>T c.1565G>T (p.Arg522Leu) c.1553G>T (p.Arg518Leu) c.839G>T (p.Arg280Leu) n.3064G>T n.3753G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.10812271G= | CA2322619034 | DNM2 | n.996G= c.1565G= (p.Arg522=) c.1553G= (p.Arg518=) c.839G= (p.Arg280=) n.3064G= n.3753G= | dbSNP |