| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132134369G>A | CA148176 | KCNQ3 | c.1720C>T (p.Pro574Ser) c.1360C>T (p.Pro454Ser) c.1393C>T (p.Pro465Ser) c.*344C>T (n.*344C>T) n.2448C>T c.1357C>T (p.Pro453Ser) c.475C>T (p.Pro159Ser) c.1012C>T (p.Pro338Ser) c.1498C>T (p.Pro500Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132134369G>T | CA315619 | KCNQ3 | c.1720C>A (p.Pro574Thr) c.1360C>A (p.Pro454Thr) c.1393C>A (p.Pro465Thr) c.*344C>A (n.*344C>A) n.2448C>A c.1357C>A (p.Pro453Thr) c.475C>A (p.Pro159Thr) c.1012C>A (p.Pro338Thr) c.1498C>A (p.Pro500Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132134369G= | CA1820653864 | KCNQ3 | c.1720C= (p.Pro574=) c.1360C= (p.Pro454=) c.1393C= (p.Pro465=) c.*344C= (n.*344C=) n.2448C= c.1357C= (p.Pro453=) c.475C= (p.Pro159=) c.1012C= (p.Pro338=) c.1498C= (p.Pro500=) | dbSNP |
| 8 | g.132134369G>C | CA372218656 | KCNQ3 | c.1720C>G (p.Pro574Ala) c.1360C>G (p.Pro454Ala) c.1393C>G (p.Pro465Ala) c.*344C>G (n.*344C>G) n.2448C>G c.1357C>G (p.Pro453Ala) c.475C>G (p.Pro159Ala) c.1012C>G (p.Pro338Ala) c.1498C>G (p.Pro500Ala) | dbSNP gnomAD v4 |