Recessive RYR1 Mutations DX F* c.9847C>T (p.Arg3283Stop),M* c.14601C>A (p.Ser4867Arg)P MmD G* c.9847C>T (p.Arg3283Stop), M* c.14601C>A (p.Ser4867Arg)P MmD + H c.2966A>G (p.Gln989Gly),P c.6806dupG (p.Ser2270LeufsStop13),M c.11314C>T (p.Arg3772Trp)a, P MmD + K c.9989A>G (p.Asp3330Gly), c.14690G>A (p.Gly4897Asp) CCD L c.5120G>A (p.Arg1707His),M c.12063_12064dupCA (p.Met4022ThrfsStop4)P RRM O* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD P* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD S c.6617C>T (p.Thr2206Met) (homozygous) AR MD W c.2122G>A. | slideum.com

Recessive RYR1 Mutations DX F* c.9847C>T (p.Arg3283Stop),M* c.14601C>A (p.Ser4867Arg)P MmD G* c.9847C>T (p.Arg3283Stop), M* c.14601C>A (p.Ser4867Arg)P MmD + H c.2966A>G (p.Gln989Gly),P c.6806dupG (p.Ser2270LeufsStop13),M c.11314C>T (p.Arg3772Trp)a, P MmD + K c.9989A>G (p.Asp3330Gly), c.14690G>A (p.Gly4897Asp) CCD L c.5120G>A (p.Arg1707His),M c.12063_12064dupCA (p.Met4022ThrfsStop4)P RRM O* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD P* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD S c.6617C>T (p.Thr2206Met) (homozygous) AR MD W c.2122G>A.

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Transcript Recessive RYR1 Mutations DX F* c.9847C>T (p.Arg3283Stop),M* c.14601C>A (p.Ser4867Arg)P MmD G* c.9847C>T (p.Arg3283Stop), M* c.14601C>A (p.Ser4867Arg)P MmD + H c.2966A>G (p.Gln989Gly),P c.6806dupG (p.Ser2270LeufsStop13),M c.11314C>T (p.Arg3772Trp)a, P MmD + K c.9989A>G (p.Asp3330Gly), c.14690G>A (p.Gly4897Asp) CCD L c.5120G>A (p.Arg1707His),M c.12063_12064dupCA (p.Met4022ThrfsStop4)P RRM O* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD P* c.2119G>A (p.Gly707Ser), c.3800C>G (p.Pro1267Arg) MmD S c.6617C>T (p.Thr2206Met) (homozygous) AR MD W c.2122G>A.