| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784024C>G | CA007463 | RYR2 | c.*3404C>G (n.*3404C>G) c.12300C>G (p.Asn4100Lys) c.12333C>G (p.Asn4111Lys) c.4489C>G c.12312C>G (p.Asn4104Lys) c.2365C>G c.12264C>G (p.Asn4088Lys) n.3507C>G c.12366C>G (p.Asn4122Lys) c.12363C>G (p.Asn4121Lys) c.12342C>G (p.Asn4114Lys) c.12336C>G (p.Asn4112Lys) c.12330C>G (p.Asn4110Lys) c.12306C>G (p.Asn4102Lys) c.12129C>G (p.Asn4043Lys) c.12273C>G (p.Asn4091Lys) c.12345C>G (p.Asn4115Lys) | ClinVar dbSNP |
| 1 | g.237784024C= | CA1141581350 | RYR2 | c.*3404C= (n.*3404C=) c.12300C= (p.Asn4100=) c.12333C= (p.Asn4111=) c.4489C= c.12312C= (p.Asn4104=) c.2365C= c.12264C= (p.Asn4088=) n.3507C= c.12366C= (p.Asn4122=) c.12363C= (p.Asn4121=) c.12342C= (p.Asn4114=) c.12336C= (p.Asn4112=) c.12330C= (p.Asn4110=) c.12306C= (p.Asn4102=) c.12129C= (p.Asn4043=) c.12273C= (p.Asn4091=) c.12345C= (p.Asn4115=) | dbSNP |