Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237783677A>C | CA007268 | RYR2 | c.*3057A>C (n.*3057A>C) c.11953A>C (p.Asn3985His) c.11986A>C (p.Asn3996His) c.4142A>C c.11965A>C (p.Asn3989His) c.2018A>C c.11917A>C (p.Asn3973His) n.3160A>C c.12019A>C (p.Asn4007His) c.12016A>C (p.Asn4006His) c.11995A>C (p.Asn3999His) c.11989A>C (p.Asn3997His) c.11983A>C (p.Asn3995His) c.11959A>C (p.Asn3987His) c.11782A>C (p.Asn3928His) c.11926A>C (p.Asn3976His) c.11998A>C (p.Asn4000His) | ClinVar dbSNP |
1 | g.237783677A>G | CA007278 | RYR2 | c.*3057A>G (n.*3057A>G) c.11953A>G (p.Asn3985Asp) c.11986A>G (p.Asn3996Asp) c.4142A>G c.11965A>G (p.Asn3989Asp) c.2018A>G c.11917A>G (p.Asn3973Asp) n.3160A>G c.12019A>G (p.Asn4007Asp) c.12016A>G (p.Asn4006Asp) c.11995A>G (p.Asn3999Asp) c.11989A>G (p.Asn3997Asp) c.11983A>G (p.Asn3995Asp) c.11959A>G (p.Asn3987Asp) c.11782A>G (p.Asn3928Asp) c.11926A>G (p.Asn3976Asp) c.11998A>G (p.Asn4000Asp) | ClinVar dbSNP |