| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50323609G>T | CA256862 | KCNC3 | c.1344C>A (p.Phe448Leu) c.-74-2825C>A (n.-74-2825C>A) n.48-2825C>A c.1116C>A (p.Phe372Leu) n.69-2825C>A | ClinVar dbSNP |
| 19 | g.50323609G>C | CA406951539 | KCNC3 | c.1344C>G (p.Phe448Leu) c.-74-2825C>G (n.-74-2825C>G) n.48-2825C>G c.1116C>G (p.Phe372Leu) n.69-2825C>G | ClinVar dbSNP |
| 19 | g.50323609G= | CA2340843093 | KCNC3 | c.1344C= (p.Phe448=) c.-74-2825C= (n.-74-2825C=) n.48-2825C= c.1116C= (p.Phe372=) n.69-2825C= | dbSNP |