| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439671G>T | CA10654813 | KCNQ2 | c.854C>A (p.Pro285His) n.592C>A c.335C>A (p.Pro112His) c.512C>A (p.Pro171His) n.980C>A c.219C>A c.357C>A (p.Pro119=) n.679C>A c.728C>A (p.Pro243His) c.785C>A (p.Pro262His) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439671G>A | CA409652651 | KCNQ2 | c.854C>T (p.Pro285Leu) n.592C>T c.335C>T (p.Pro112Leu) c.512C>T (p.Pro171Leu) n.980C>T c.219C>T c.357C>T (p.Pro119=) n.679C>T c.728C>T (p.Pro243Leu) c.785C>T (p.Pro262Leu) | ClinVar dbSNP |
| 20 | g.63439671G= | CA2374791964 | KCNQ2 | c.854C= (p.Pro285=) n.592C= c.335C= (p.Pro112=) c.512C= (p.Pro171=) n.980C= c.219C= c.357C= (p.Pro119=) n.679C= c.728C= (p.Pro243=) c.785C= (p.Pro262=) | dbSNP |