| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784314A>G | CA007638 | RYR2 | c.*3694A>G (n.*3694A>G) c.12590A>G (p.Gln4197Arg) c.12623A>G (p.Gln4208Arg) c.4779A>G c.12602A>G (p.Gln4201Arg) c.2655A>G c.12554A>G (p.Gln4185Arg) n.3797A>G c.12656A>G (p.Gln4219Arg) c.12653A>G (p.Gln4218Arg) c.12632A>G (p.Gln4211Arg) c.12626A>G (p.Gln4209Arg) c.12620A>G (p.Gln4207Arg) c.12596A>G (p.Gln4199Arg) c.12419A>G (p.Gln4140Arg) c.12563A>G (p.Gln4188Arg) c.12635A>G (p.Gln4212Arg) | ClinVar dbSNP |
| 1 | g.237784314A= | CA1141581501 | RYR2 | c.*3694A= (n.*3694A=) c.12590A= (p.Gln4197=) c.12623A= (p.Gln4208=) c.4779A= c.12602A= (p.Gln4201=) c.2655A= c.12554A= (p.Gln4185=) n.3797A= c.12656A= (p.Gln4219=) c.12653A= (p.Gln4218=) c.12632A= (p.Gln4211=) c.12626A= (p.Gln4209=) c.12620A= (p.Gln4207=) c.12596A= (p.Gln4199=) c.12419A= (p.Gln4140=) c.12563A= (p.Gln4188=) c.12635A= (p.Gln4212=) | dbSNP |