| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543832G>T | CA023953 | RYR1 | c.379G>T c.361G>T c.11969G>T (p.Gly3990Val) c.11954G>T (p.Gly3985Val) c.11951G>T (p.Gly3984Val) c.578G>T c.5338G>T c.11936G>T (p.Gly3979Val) c.11966G>T (p.Gly3989Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543832G>C | CA405662889 | RYR1 | c.379G>C c.361G>C c.11969G>C (p.Gly3990Ala) c.11954G>C (p.Gly3985Ala) c.11951G>C (p.Gly3984Ala) c.578G>C c.5338G>C c.11936G>C (p.Gly3979Ala) c.11966G>C (p.Gly3989Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543832G= | CA2335074542 | RYR1 | c.379G= c.361G= c.11969G= (p.Gly3990=) c.11954G= (p.Gly3985=) c.11951G= (p.Gly3984=) c.578G= c.5338G= c.11936G= (p.Gly3979=) c.11966G= (p.Gly3989=) | dbSNP |