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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237640884A>C | CA2651205277 | RYR2 | c.7116-13A>C (n.7116-13A>C) c.7068-13A>C (n.7068-13A>C) c.7146-13A>C (n.7146-13A>C) c.7143-13A>C (n.7143-13A>C) c.7113-13A>C (n.7113-13A>C) n.7427-13A>C c.7125-13A>C (n.7125-13A>C) n.7460-13A>C | gnomAD v4 |
| 1 | g.237640885C= | CA2487423557 | RYR2 | c.7116-12C= (n.7116-12C=) c.7068-12C= (n.7068-12C=) c.7146-12C= (n.7146-12C=) c.7143-12C= (n.7143-12C=) c.7113-12C= (n.7113-12C=) n.7427-12C= c.7125-12C= (n.7125-12C=) n.7460-12C= | |
| 1 | g.237640885C>T | CA087299 | RYR2 | c.7116-12C>T (n.7116-12C>T) c.7068-12C>T (n.7068-12C>T) c.7146-12C>T (n.7146-12C>T) c.7143-12C>T (n.7143-12C>T) c.7113-12C>T (n.7113-12C>T) n.7427-12C>T c.7125-12C>T (n.7125-12C>T) n.7460-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640886A= | CA2487423558 | RYR2 | c.7116-11A= (n.7116-11A=) c.7068-11A= (n.7068-11A=) c.7146-11A= (n.7146-11A=) c.7143-11A= (n.7143-11A=) c.7113-11A= (n.7113-11A=) n.7427-11A= c.7125-11A= (n.7125-11A=) n.7460-11A= | |
| 1 | g.237640886A>C | CA39789506 | RYR2 | c.7116-11A>C (n.7116-11A>C) c.7068-11A>C (n.7068-11A>C) c.7146-11A>C (n.7146-11A>C) c.7143-11A>C (n.7143-11A>C) c.7113-11A>C (n.7113-11A>C) n.7427-11A>C c.7125-11A>C (n.7125-11A>C) n.7460-11A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640886A>G | CA2580062400 | RYR2 | c.7116-11A>G (n.7116-11A>G) c.7068-11A>G (n.7068-11A>G) c.7146-11A>G (n.7146-11A>G) c.7143-11A>G (n.7143-11A>G) c.7113-11A>G (n.7113-11A>G) n.7427-11A>G c.7125-11A>G (n.7125-11A>G) n.7460-11A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640886A>T | CA2487423559 | RYR2 | c.7116-11A>T (n.7116-11A>T) c.7068-11A>T (n.7068-11A>T) c.7146-11A>T (n.7146-11A>T) c.7143-11A>T (n.7143-11A>T) c.7113-11A>T (n.7113-11A>T) n.7427-11A>T c.7125-11A>T (n.7125-11A>T) n.7460-11A>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640887T>C | CA529545588 | RYR2 | c.7116-10T>C (n.7116-10T>C) c.7068-10T>C (n.7068-10T>C) c.7146-10T>C (n.7146-10T>C) c.7143-10T>C (n.7143-10T>C) c.7113-10T>C (n.7113-10T>C) n.7427-10T>C c.7125-10T>C (n.7125-10T>C) n.7460-10T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237640887T>G | CA2651205278 | RYR2 | c.7116-10T>G (n.7116-10T>G) c.7068-10T>G (n.7068-10T>G) c.7146-10T>G (n.7146-10T>G) c.7143-10T>G (n.7143-10T>G) c.7113-10T>G (n.7113-10T>G) n.7427-10T>G c.7125-10T>G (n.7125-10T>G) n.7460-10T>G | gnomAD v4 |
| 1 | g.237640887T= | CA2487423560 | RYR2 | c.7116-10T= (n.7116-10T=) c.7068-10T= (n.7068-10T=) c.7146-10T= (n.7146-10T=) c.7143-10T= (n.7143-10T=) c.7113-10T= (n.7113-10T=) n.7427-10T= c.7125-10T= (n.7125-10T=) n.7460-10T= | |
| 1 | g.237640888T>C | CA658795634 | RYR2 | c.7116-9T>C (n.7116-9T>C) c.7068-9T>C (n.7068-9T>C) c.7146-9T>C (n.7146-9T>C) c.7143-9T>C (n.7143-9T>C) c.7113-9T>C (n.7113-9T>C) n.7427-9T>C c.7125-9T>C (n.7125-9T>C) n.7460-9T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640888T= | CA2487423561 | RYR2 | c.7116-9T= (n.7116-9T=) c.7068-9T= (n.7068-9T=) c.7146-9T= (n.7146-9T=) c.7143-9T= (n.7143-9T=) c.7113-9T= (n.7113-9T=) n.7427-9T= c.7125-9T= (n.7125-9T=) n.7460-9T= | |
| 1 | g.237640889C>A | CA2651205279 | RYR2 | c.7116-8C>A (n.7116-8C>A) c.7068-8C>A (n.7068-8C>A) c.7146-8C>A (n.7146-8C>A) c.7143-8C>A (n.7143-8C>A) c.7113-8C>A (n.7113-8C>A) n.7427-8C>A c.7125-8C>A (n.7125-8C>A) n.7460-8C>A | gnomAD v4 |
| 1 | g.237640889C>T | CA2651205280 | RYR2 | c.7116-8C>T (n.7116-8C>T) c.7068-8C>T (n.7068-8C>T) c.7146-8C>T (n.7146-8C>T) c.7143-8C>T (n.7143-8C>T) c.7113-8C>T (n.7113-8C>T) n.7427-8C>T c.7125-8C>T (n.7125-8C>T) n.7460-8C>T | gnomAD v4 |
| 1 | g.237640890A>G | CA2651205281 | RYR2 | c.7116-7A>G (n.7116-7A>G) c.7068-7A>G (n.7068-7A>G) c.7146-7A>G (n.7146-7A>G) c.7143-7A>G (n.7143-7A>G) c.7113-7A>G (n.7113-7A>G) n.7427-7A>G c.7125-7A>G (n.7125-7A>G) n.7460-7A>G | gnomAD v4 |
| 1 | g.237640890_237640891delinsAT | CA2487423562 | RYR2 | c.7116-7_7116-6delinsAT (n.7116-7_7116-6delinsAT) c.7068-7_7068-6delinsAT (n.7068-7_7068-6delinsAT) c.7146-7_7146-6delinsAT (n.7146-7_7146-6delinsAT) c.7143-7_7143-6delinsAT (n.7143-7_7143-6delinsAT) c.7113-7_7113-6delinsAT (n.7113-7_7113-6delinsAT) n.7427-7_7427-6delinsAT c.7125-7_7125-6delinsAT (n.7125-7_7125-6delinsAT) n.7460-7_7460-6delinsAT | |
| 1 | g.237640891del | CA087304 | RYR2 | c.7116-6del (n.7116-6del) c.7068-6del (n.7068-6del) c.7146-6del (n.7146-6del) c.7143-6del (n.7143-6del) c.7113-6del (n.7113-6del) n.7427-6del c.7125-6del (n.7125-6del) n.7460-6del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640894A>C | CA2651205282 | RYR2 | c.7116-3A>C (n.7116-3A>C) c.7068-3A>C (n.7068-3A>C) c.7146-3A>C (n.7146-3A>C) c.7143-3A>C (n.7143-3A>C) c.7113-3A>C (n.7113-3A>C) n.7427-3A>C c.7125-3A>C (n.7125-3A>C) n.7460-3A>C | gnomAD v4 |
| 1 | g.237640894A>G | CA075541 | RYR2 | c.7116-3A>G (n.7116-3A>G) c.7068-3A>G (n.7068-3A>G) c.7146-3A>G (n.7146-3A>G) c.7143-3A>G (n.7143-3A>G) c.7113-3A>G (n.7113-3A>G) n.7427-3A>G c.7125-3A>G (n.7125-3A>G) n.7460-3A>G | |
| 1 | g.237640895A>C | CA345396487 | RYR2 | c.7116-2A>C (n.7116-2A>C) c.7068-2A>C (n.7068-2A>C) c.7146-2A>C (n.7146-2A>C) c.7143-2A>C (n.7143-2A>C) c.7113-2A>C (n.7113-2A>C) n.7427-2A>C c.7125-2A>C (n.7125-2A>C) n.7460-2A>C | |
| 1 | g.237640895A>G | CA345396490 | RYR2 | c.7116-2A>G (n.7116-2A>G) c.7068-2A>G (n.7068-2A>G) c.7146-2A>G (n.7146-2A>G) c.7143-2A>G (n.7143-2A>G) c.7113-2A>G (n.7113-2A>G) n.7427-2A>G c.7125-2A>G (n.7125-2A>G) n.7460-2A>G | ClinVar dbSNP |
| 1 | g.237640895A>T | CA345396489 | RYR2 | c.7116-2A>T (n.7116-2A>T) c.7068-2A>T (n.7068-2A>T) c.7146-2A>T (n.7146-2A>T) c.7143-2A>T (n.7143-2A>T) c.7113-2A>T (n.7113-2A>T) n.7427-2A>T c.7125-2A>T (n.7125-2A>T) n.7460-2A>T | |
| 1 | g.237640896G>A | CA345396492 | RYR2 | c.7116-1G>A (n.7116-1G>A) c.7068-1G>A (n.7068-1G>A) c.7146-1G>A (n.7146-1G>A) c.7143-1G>A (n.7143-1G>A) c.7113-1G>A (n.7113-1G>A) n.7427-1G>A c.7125-1G>A (n.7125-1G>A) n.7460-1G>A | ClinVar dbSNP |
| 1 | g.237640896G>C | CA345396494 | RYR2 | c.7116-1G>C (n.7116-1G>C) c.7068-1G>C (n.7068-1G>C) c.7146-1G>C (n.7146-1G>C) c.7143-1G>C (n.7143-1G>C) c.7113-1G>C (n.7113-1G>C) n.7427-1G>C c.7125-1G>C (n.7125-1G>C) n.7460-1G>C | |
| 1 | g.237640896G>T | CA345396496 | RYR2 | c.7116-1G>T (n.7116-1G>T) c.7068-1G>T (n.7068-1G>T) c.7146-1G>T (n.7146-1G>T) c.7143-1G>T (n.7143-1G>T) c.7113-1G>T (n.7113-1G>T) n.7427-1G>T c.7125-1G>T (n.7125-1G>T) n.7460-1G>T | |
| 1 | g.237640897T>A | CA423819269 | RYR2 | c.7116T>A (p.Leu2372=) c.7068T>A (p.Leu2356=) c.7146T>A (p.Leu2382=) c.7143T>A (p.Leu2381=) c.7113T>A (p.Leu2371=) n.7427T>A c.7125T>A (p.Leu2375=) n.7460T>A | |
| 1 | g.237640897T>C | CA423819270 | RYR2 | c.7116T>C (p.Leu2372=) c.7068T>C (p.Leu2356=) c.7146T>C (p.Leu2382=) c.7143T>C (p.Leu2381=) c.7113T>C (p.Leu2371=) n.7427T>C c.7125T>C (p.Leu2375=) n.7460T>C | |
| 1 | g.237640897T>G | CA423819271 | RYR2 | c.7116T>G (p.Leu2372=) c.7068T>G (p.Leu2356=) c.7146T>G (p.Leu2382=) c.7143T>G (p.Leu2381=) c.7113T>G (p.Leu2371=) n.7427T>G c.7125T>G (p.Leu2375=) n.7460T>G | COSMIC COSMIC |
| 1 | g.237640898G>A | CA345396497 | RYR2 | c.7117G>A (p.Asp2373Asn) c.7069G>A (p.Asp2357Asn) c.7147G>A (p.Asp2383Asn) c.7144G>A (p.Asp2382Asn) c.7114G>A (p.Asp2372Asn) n.7428G>A c.7126G>A (p.Asp2376Asn) n.7461G>A | |
| 1 | g.237640898G>C | CA345396499 | RYR2 | c.7117G>C (p.Asp2373His) c.7069G>C (p.Asp2357His) c.7147G>C (p.Asp2383His) c.7144G>C (p.Asp2382His) c.7114G>C (p.Asp2372His) n.7428G>C c.7126G>C (p.Asp2376His) n.7461G>C | |
| 1 | g.237640898G= | CA1144229285 | RYR2 | c.7117G= (p.Asp2373=) c.7069G= (p.Asp2357=) c.7147G= (p.Asp2383=) c.7144G= (p.Asp2382=) c.7114G= (p.Asp2372=) n.7428G= c.7126G= (p.Asp2376=) n.7461G= | |
| 1 | g.237640898G>T | CA010545 | RYR2 | c.7117G>T (p.Asp2373Tyr) c.7069G>T (p.Asp2357Tyr) c.7147G>T (p.Asp2383Tyr) c.7144G>T (p.Asp2382Tyr) c.7114G>T (p.Asp2372Tyr) n.7428G>T c.7126G>T (p.Asp2376Tyr) n.7461G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640899A= | CA2487423563 | RYR2 | c.7118A= (p.Asp2373=) c.7070A= (p.Asp2357=) c.7148A= (p.Asp2383=) c.7145A= (p.Asp2382=) c.7115A= (p.Asp2372=) n.7429A= c.7127A= (p.Asp2376=) n.7462A= | |
| 1 | g.237640899A>C | CA345396504 | RYR2 | c.7118A>C (p.Asp2373Ala) c.7070A>C (p.Asp2357Ala) c.7148A>C (p.Asp2383Ala) c.7145A>C (p.Asp2382Ala) c.7115A>C (p.Asp2372Ala) n.7429A>C c.7127A>C (p.Asp2376Ala) n.7462A>C | |
| 1 | g.237640899A>G | CA087305 | RYR2 | c.7118A>G (p.Asp2373Gly) c.7070A>G (p.Asp2357Gly) c.7148A>G (p.Asp2383Gly) c.7145A>G (p.Asp2382Gly) c.7115A>G (p.Asp2372Gly) n.7429A>G c.7127A>G (p.Asp2376Gly) n.7462A>G | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 1 | g.237640899A>T | CA345396502 | RYR2 | c.7118A>T (p.Asp2373Val) c.7070A>T (p.Asp2357Val) c.7148A>T (p.Asp2383Val) c.7145A>T (p.Asp2382Val) c.7115A>T (p.Asp2372Val) n.7429A>T c.7127A>T (p.Asp2376Val) n.7462A>T | |
| 1 | g.237640900C>A | CA345396506 | RYR2 | c.7119C>A (p.Asp2373Glu) c.7071C>A (p.Asp2357Glu) c.7149C>A (p.Asp2383Glu) c.7146C>A (p.Asp2382Glu) c.7116C>A (p.Asp2372Glu) n.7430C>A c.7128C>A (p.Asp2376Glu) n.7463C>A | |
| 1 | g.237640900C>G | CA345396508 | RYR2 | c.7119C>G (p.Asp2373Glu) c.7071C>G (p.Asp2357Glu) c.7149C>G (p.Asp2383Glu) c.7146C>G (p.Asp2382Glu) c.7116C>G (p.Asp2372Glu) n.7430C>G c.7128C>G (p.Asp2376Glu) n.7463C>G | |
| 1 | g.237640900C>T | CA423819275 | RYR2 | c.7119C>T (p.Asp2373=) c.7071C>T (p.Asp2357=) c.7149C>T (p.Asp2383=) c.7146C>T (p.Asp2382=) c.7116C>T (p.Asp2372=) n.7430C>T c.7128C>T (p.Asp2376=) n.7463C>T | dbSNP |
| 1 | g.237640901A>C | CA345396509 | RYR2 | c.7120A>C (p.Thr2374Pro) c.7072A>C (p.Thr2358Pro) c.7150A>C (p.Thr2384Pro) c.7147A>C (p.Thr2383Pro) c.7117A>C (p.Thr2373Pro) n.7431A>C c.7129A>C (p.Thr2377Pro) n.7464A>C | |
| 1 | g.237640901A>G | CA345396511 | RYR2 | c.7120A>G (p.Thr2374Ala) c.7072A>G (p.Thr2358Ala) c.7150A>G (p.Thr2384Ala) c.7147A>G (p.Thr2383Ala) c.7117A>G (p.Thr2373Ala) n.7431A>G c.7129A>G (p.Thr2377Ala) n.7464A>G | |
| 1 | g.237640901A>T | CA345396513 | RYR2 | c.7120A>T (p.Thr2374Ser) c.7072A>T (p.Thr2358Ser) c.7150A>T (p.Thr2384Ser) c.7147A>T (p.Thr2383Ser) c.7117A>T (p.Thr2373Ser) n.7431A>T c.7129A>T (p.Thr2377Ser) n.7464A>T | |
| 1 | g.237640902C>A | CA345396515 | RYR2 | c.7121C>A (p.Thr2374Lys) c.7073C>A (p.Thr2358Lys) c.7151C>A (p.Thr2384Lys) c.7148C>A (p.Thr2383Lys) c.7118C>A (p.Thr2373Lys) n.7432C>A c.7130C>A (p.Thr2377Lys) n.7465C>A | |
| 1 | g.237640902C>G | CA345396518 | RYR2 | c.7121C>G (p.Thr2374Arg) c.7073C>G (p.Thr2358Arg) c.7151C>G (p.Thr2384Arg) c.7148C>G (p.Thr2383Arg) c.7118C>G (p.Thr2373Arg) n.7432C>G c.7130C>G (p.Thr2377Arg) n.7465C>G | |
| 1 | g.237640902C>T | CA345396516 | RYR2 | c.7121C>T (p.Thr2374Ile) c.7073C>T (p.Thr2358Ile) c.7151C>T (p.Thr2384Ile) c.7148C>T (p.Thr2383Ile) c.7118C>T (p.Thr2373Ile) n.7432C>T c.7130C>T (p.Thr2377Ile) n.7465C>T | |
| 1 | g.237640903A= | CA2487423564 | RYR2 | c.7122A= (p.Thr2374=) c.7074A= (p.Thr2358=) c.7152A= (p.Thr2384=) c.7149A= (p.Thr2383=) c.7119A= (p.Thr2373=) n.7433A= c.7131A= (p.Thr2377=) n.7466A= | |
| 1 | g.237640903A>C | CA423819281 | RYR2 | c.7122A>C (p.Thr2374=) c.7074A>C (p.Thr2358=) c.7152A>C (p.Thr2384=) c.7149A>C (p.Thr2383=) c.7119A>C (p.Thr2373=) n.7433A>C c.7131A>C (p.Thr2377=) n.7466A>C | |
| 1 | g.237640903A>G | CA423819280 | RYR2 | c.7122A>G (p.Thr2374=) c.7074A>G (p.Thr2358=) c.7152A>G (p.Thr2384=) c.7149A>G (p.Thr2383=) c.7119A>G (p.Thr2373=) n.7433A>G c.7131A>G (p.Thr2377=) n.7466A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237640903A>T | CA423819279 | RYR2 | c.7122A>T (p.Thr2374=) c.7074A>T (p.Thr2358=) c.7152A>T (p.Thr2384=) c.7149A>T (p.Thr2383=) c.7119A>T (p.Thr2373=) n.7433A>T c.7131A>T (p.Thr2377=) n.7466A>T | |
| 1 | g.237640904G>A | CA087308 | RYR2 | c.7123G>A (p.Glu2375Lys) c.7075G>A (p.Glu2359Lys) c.7153G>A (p.Glu2385Lys) c.7150G>A (p.Glu2384Lys) c.7120G>A (p.Glu2374Lys) n.7434G>A c.7132G>A (p.Glu2378Lys) n.7467G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640904G>C | CA345396520 | RYR2 | c.7123G>C (p.Glu2375Gln) c.7075G>C (p.Glu2359Gln) c.7153G>C (p.Glu2385Gln) c.7150G>C (p.Glu2384Gln) c.7120G>C (p.Glu2374Gln) n.7434G>C c.7132G>C (p.Glu2378Gln) n.7467G>C | COSMIC COSMIC |
| 1 | g.237640904G= | CA2487423565 | RYR2 | c.7123G= (p.Glu2375=) c.7075G= (p.Glu2359=) c.7153G= (p.Glu2385=) c.7150G= (p.Glu2384=) c.7120G= (p.Glu2374=) n.7434G= c.7132G= (p.Glu2378=) n.7467G= | |
| 1 | g.237640904G>T | CA345396521 | RYR2 | c.7123G>T (p.Glu2375Ter) c.7075G>T (p.Glu2359Ter) c.7153G>T (p.Glu2385Ter) c.7150G>T (p.Glu2384Ter) c.7120G>T (p.Glu2374Ter) n.7434G>T c.7132G>T (p.Glu2378Ter) n.7467G>T | |
| 1 | g.237640912_237640914del | CA2651205283 | RYR2 | c.7131_7133del (p.Glu2378del) c.7083_7085del (p.Glu2362del) c.7161_7163del (p.Glu2388del) c.7158_7160del (p.Glu2387del) c.7128_7130del (p.Glu2377del) n.7442_7444del c.7140_7142del (p.Glu2381del) n.7475_7477del | gnomAD v4 |
| 1 | g.237640905A= | CA2487423566 | RYR2 | c.7124A= (p.Glu2375=) c.7076A= (p.Glu2359=) c.7154A= (p.Glu2385=) c.7151A= (p.Glu2384=) c.7121A= (p.Glu2374=) n.7435A= c.7133A= (p.Glu2378=) n.7468A= | |
| 1 | g.237640905A>C | CA345396523 | RYR2 | c.7124A>C (p.Glu2375Ala) c.7076A>C (p.Glu2359Ala) c.7154A>C (p.Glu2385Ala) c.7151A>C (p.Glu2384Ala) c.7121A>C (p.Glu2374Ala) n.7435A>C c.7133A>C (p.Glu2378Ala) n.7468A>C | |
| 1 | g.237640905A>G | CA345396525 | RYR2 | c.7124A>G (p.Glu2375Gly) c.7076A>G (p.Glu2359Gly) c.7154A>G (p.Glu2385Gly) c.7151A>G (p.Glu2384Gly) c.7121A>G (p.Glu2374Gly) n.7435A>G c.7133A>G (p.Glu2378Gly) n.7468A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640905A>T | CA345396526 | RYR2 | c.7124A>T (p.Glu2375Val) c.7076A>T (p.Glu2359Val) c.7154A>T (p.Glu2385Val) c.7151A>T (p.Glu2384Val) c.7121A>T (p.Glu2374Val) n.7435A>T c.7133A>T (p.Glu2378Val) n.7468A>T | |
| 1 | g.237640906G>A | CA423819283 | RYR2 | c.7125G>A (p.Glu2375=) c.7077G>A (p.Glu2359=) c.7155G>A (p.Glu2385=) c.7152G>A (p.Glu2384=) c.7122G>A (p.Glu2374=) n.7436G>A c.7134G>A (p.Glu2378=) n.7469G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640906G>C | CA345396528 | RYR2 | c.7125G>C (p.Glu2375Asp) c.7077G>C (p.Glu2359Asp) c.7155G>C (p.Glu2385Asp) c.7152G>C (p.Glu2384Asp) c.7122G>C (p.Glu2374Asp) n.7436G>C c.7134G>C (p.Glu2378Asp) n.7469G>C | |
| 1 | g.237640906G= | CA2487423567 | RYR2 | c.7125G= (p.Glu2375=) c.7077G= (p.Glu2359=) c.7155G= (p.Glu2385=) c.7152G= (p.Glu2384=) c.7122G= (p.Glu2374=) n.7436G= c.7134G= (p.Glu2378=) n.7469G= | |
| 1 | g.237640906G>T | CA345396529 | RYR2 | c.7125G>T (p.Glu2375Asp) c.7077G>T (p.Glu2359Asp) c.7155G>T (p.Glu2385Asp) c.7152G>T (p.Glu2384Asp) c.7122G>T (p.Glu2374Asp) n.7436G>T c.7134G>T (p.Glu2378Asp) n.7469G>T | gnomAD v4 |
| 1 | g.237640907G>A | CA075539 | RYR2 | c.7126G>A (p.Glu2376Lys) c.7078G>A (p.Glu2360Lys) c.7156G>A (p.Glu2386Lys) c.7153G>A (p.Glu2385Lys) c.7123G>A (p.Glu2375Lys) n.7437G>A c.7135G>A (p.Glu2379Lys) n.7470G>A | gnomAD v4 |
| 1 | g.237640907G>C | CA345396532 | RYR2 | c.7126G>C (p.Glu2376Gln) c.7078G>C (p.Glu2360Gln) c.7156G>C (p.Glu2386Gln) c.7153G>C (p.Glu2385Gln) c.7123G>C (p.Glu2375Gln) n.7437G>C c.7135G>C (p.Glu2379Gln) n.7470G>C | |
| 1 | g.237640907G>T | CA345396533 | RYR2 | c.7126G>T (p.Glu2376Ter) c.7078G>T (p.Glu2360Ter) c.7156G>T (p.Glu2386Ter) c.7153G>T (p.Glu2385Ter) c.7123G>T (p.Glu2375Ter) n.7437G>T c.7135G>T (p.Glu2379Ter) n.7470G>T | |
| 1 | g.237640908A>C | CA345396535 | RYR2 | c.7127A>C (p.Glu2376Ala) c.7079A>C (p.Glu2360Ala) c.7157A>C (p.Glu2386Ala) c.7154A>C (p.Glu2385Ala) c.7124A>C (p.Glu2375Ala) n.7438A>C c.7136A>C (p.Glu2379Ala) n.7471A>C | |
| 1 | g.237640908A>G | CA345396539 | RYR2 | c.7127A>G (p.Glu2376Gly) c.7079A>G (p.Glu2360Gly) c.7157A>G (p.Glu2386Gly) c.7154A>G (p.Glu2385Gly) c.7124A>G (p.Glu2375Gly) n.7438A>G c.7136A>G (p.Glu2379Gly) n.7471A>G | |
| 1 | g.237640908A>T | CA345396537 | RYR2 | c.7127A>T (p.Glu2376Val) c.7079A>T (p.Glu2360Val) c.7157A>T (p.Glu2386Val) c.7154A>T (p.Glu2385Val) c.7124A>T (p.Glu2375Val) n.7438A>T c.7136A>T (p.Glu2379Val) n.7471A>T | |
| 1 | g.237640909G>A | CA423819286 | RYR2 | c.7128G>A (p.Glu2376=) c.7080G>A (p.Glu2360=) c.7158G>A (p.Glu2386=) c.7155G>A (p.Glu2385=) c.7125G>A (p.Glu2375=) n.7439G>A c.7137G>A (p.Glu2379=) n.7472G>A | |
| 1 | g.237640909G>C | CA345396540 | RYR2 | c.7128G>C (p.Glu2376Asp) c.7080G>C (p.Glu2360Asp) c.7158G>C (p.Glu2386Asp) c.7155G>C (p.Glu2385Asp) c.7125G>C (p.Glu2375Asp) n.7439G>C c.7137G>C (p.Glu2379Asp) n.7472G>C | |
| 1 | g.237640909G>T | CA345396541 | RYR2 | c.7128G>T (p.Glu2376Asp) c.7080G>T (p.Glu2360Asp) c.7158G>T (p.Glu2386Asp) c.7155G>T (p.Glu2385Asp) c.7125G>T (p.Glu2375Asp) n.7439G>T c.7137G>T (p.Glu2379Asp) n.7472G>T | |
| 1 | g.237640910G>A | CA345396543 | RYR2 | c.7129G>A (p.Glu2377Lys) c.7081G>A (p.Glu2361Lys) c.7159G>A (p.Glu2387Lys) c.7156G>A (p.Glu2386Lys) c.7126G>A (p.Glu2376Lys) n.7440G>A c.7138G>A (p.Glu2380Lys) n.7473G>A | ClinVar dbSNP |
| 1 | g.237640910G>C | CA345396545 | RYR2 | c.7129G>C (p.Glu2377Gln) c.7081G>C (p.Glu2361Gln) c.7159G>C (p.Glu2387Gln) c.7156G>C (p.Glu2386Gln) c.7126G>C (p.Glu2376Gln) n.7440G>C c.7138G>C (p.Glu2380Gln) n.7473G>C | |
| 1 | g.237640910G= | CA2487423568 | RYR2 | c.7129G= (p.Glu2377=) c.7081G= (p.Glu2361=) c.7159G= (p.Glu2387=) c.7156G= (p.Glu2386=) c.7126G= (p.Glu2376=) n.7440G= c.7138G= (p.Glu2380=) n.7473G= | |
| 1 | g.237640910G>T | CA345396546 | RYR2 | c.7129G>T (p.Glu2377Ter) c.7081G>T (p.Glu2361Ter) c.7159G>T (p.Glu2387Ter) c.7156G>T (p.Glu2386Ter) c.7126G>T (p.Glu2376Ter) n.7440G>T c.7138G>T (p.Glu2380Ter) n.7473G>T | |
| 1 | g.237640911A>C | CA345396548 | RYR2 | c.7130A>C (p.Glu2377Ala) c.7082A>C (p.Glu2361Ala) c.7160A>C (p.Glu2387Ala) c.7157A>C (p.Glu2386Ala) c.7127A>C (p.Glu2376Ala) n.7441A>C c.7139A>C (p.Glu2380Ala) n.7474A>C | |
| 1 | g.237640911A>G | CA345396550 | RYR2 | c.7130A>G (p.Glu2377Gly) c.7082A>G (p.Glu2361Gly) c.7160A>G (p.Glu2387Gly) c.7157A>G (p.Glu2386Gly) c.7127A>G (p.Glu2376Gly) n.7441A>G c.7139A>G (p.Glu2380Gly) n.7474A>G | gnomAD v4 |
| 1 | g.237640911A>T | CA345396552 | RYR2 | c.7130A>T (p.Glu2377Val) c.7082A>T (p.Glu2361Val) c.7160A>T (p.Glu2387Val) c.7157A>T (p.Glu2386Val) c.7127A>T (p.Glu2376Val) n.7441A>T c.7139A>T (p.Glu2380Val) n.7474A>T | |
| 1 | g.237640912G>A | CA423819290 | RYR2 | c.7131G>A (p.Glu2377=) c.7083G>A (p.Glu2361=) c.7161G>A (p.Glu2387=) c.7158G>A (p.Glu2386=) c.7128G>A (p.Glu2376=) n.7442G>A c.7140G>A (p.Glu2380=) n.7475G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237640912G>C | CA345396553 | RYR2 | c.7131G>C (p.Glu2377Asp) c.7083G>C (p.Glu2361Asp) c.7161G>C (p.Glu2387Asp) c.7158G>C (p.Glu2386Asp) c.7128G>C (p.Glu2376Asp) n.7442G>C c.7140G>C (p.Glu2380Asp) n.7475G>C | |
| 1 | g.237640912G= | CA2487423569 | RYR2 | c.7131G= (p.Glu2377=) c.7083G= (p.Glu2361=) c.7161G= (p.Glu2387=) c.7158G= (p.Glu2386=) c.7128G= (p.Glu2376=) n.7442G= c.7140G= (p.Glu2380=) n.7475G= | |
| 1 | g.237640912G>T | CA345396554 | RYR2 | c.7131G>T (p.Glu2377Asp) c.7083G>T (p.Glu2361Asp) c.7161G>T (p.Glu2387Asp) c.7158G>T (p.Glu2386Asp) c.7128G>T (p.Glu2376Asp) n.7442G>T c.7140G>T (p.Glu2380Asp) n.7475G>T | gnomAD v4 COSMIC |
| 1 | g.237640913G>A | CA345396556 | RYR2 | c.7132G>A (p.Glu2378Lys) c.7084G>A (p.Glu2362Lys) c.7162G>A (p.Glu2388Lys) c.7159G>A (p.Glu2387Lys) c.7129G>A (p.Glu2377Lys) n.7443G>A c.7141G>A (p.Glu2381Lys) n.7476G>A | |
| 1 | g.237640913G>C | CA345396558 | RYR2 | c.7132G>C (p.Glu2378Gln) c.7084G>C (p.Glu2362Gln) c.7162G>C (p.Glu2388Gln) c.7159G>C (p.Glu2387Gln) c.7129G>C (p.Glu2377Gln) n.7443G>C c.7141G>C (p.Glu2381Gln) n.7476G>C | |
| 1 | g.237640913G>T | CA345396560 | RYR2 | c.7132G>T (p.Glu2378Ter) c.7084G>T (p.Glu2362Ter) c.7162G>T (p.Glu2388Ter) c.7159G>T (p.Glu2387Ter) c.7129G>T (p.Glu2377Ter) n.7443G>T c.7141G>T (p.Glu2381Ter) n.7476G>T | |
| 1 | g.237640914A>C | CA345396562 | RYR2 | c.7133A>C (p.Glu2378Ala) c.7085A>C (p.Glu2362Ala) c.7163A>C (p.Glu2388Ala) c.7160A>C (p.Glu2387Ala) c.7130A>C (p.Glu2377Ala) n.7444A>C c.7142A>C (p.Glu2381Ala) n.7477A>C | |
| 1 | g.237640914A>G | CA345396564 | RYR2 | c.7133A>G (p.Glu2378Gly) c.7085A>G (p.Glu2362Gly) c.7163A>G (p.Glu2388Gly) c.7160A>G (p.Glu2387Gly) c.7130A>G (p.Glu2377Gly) n.7444A>G c.7142A>G (p.Glu2381Gly) n.7477A>G | COSMIC |
| 1 | g.237640914A>T | CA345396565 | RYR2 | c.7133A>T (p.Glu2378Val) c.7085A>T (p.Glu2362Val) c.7163A>T (p.Glu2388Val) c.7160A>T (p.Glu2387Val) c.7130A>T (p.Glu2377Val) n.7444A>T c.7142A>T (p.Glu2381Val) n.7477A>T | |
| 1 | g.237640915A= | CA2487423570 | RYR2 | c.7134A= (p.Glu2378=) c.7086A= (p.Glu2362=) c.7164A= (p.Glu2388=) c.7161A= (p.Glu2387=) c.7131A= (p.Glu2377=) n.7445A= c.7143A= (p.Glu2381=) n.7478A= | |
| 1 | g.237640915A>C | CA345396567 | RYR2 | c.7134A>C (p.Glu2378Asp) c.7086A>C (p.Glu2362Asp) c.7164A>C (p.Glu2388Asp) c.7161A>C (p.Glu2387Asp) c.7131A>C (p.Glu2377Asp) n.7445A>C c.7143A>C (p.Glu2381Asp) n.7478A>C | |
| 1 | g.237640915A>G | CA423819294 | RYR2 | c.7134A>G (p.Glu2378=) c.7086A>G (p.Glu2362=) c.7164A>G (p.Glu2388=) c.7161A>G (p.Glu2387=) c.7131A>G (p.Glu2377=) n.7445A>G c.7143A>G (p.Glu2381=) n.7478A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237640915A>T | CA345396569 | RYR2 | c.7134A>T (p.Glu2378Asp) c.7086A>T (p.Glu2362Asp) c.7164A>T (p.Glu2388Asp) c.7161A>T (p.Glu2387Asp) c.7131A>T (p.Glu2377Asp) n.7445A>T c.7143A>T (p.Glu2381Asp) n.7478A>T | ClinVar |
| 1 | g.237640916G>A | CA345396571 | RYR2 | c.7135G>A (p.Asp2379Asn) c.7087G>A (p.Asp2363Asn) c.7165G>A (p.Asp2389Asn) c.7162G>A (p.Asp2388Asn) c.7132G>A (p.Asp2378Asn) n.7446G>A c.7144G>A (p.Asp2382Asn) n.7479G>A | |
| 1 | g.237640916G>C | CA345396572 | RYR2 | c.7135G>C (p.Asp2379His) c.7087G>C (p.Asp2363His) c.7165G>C (p.Asp2389His) c.7162G>C (p.Asp2388His) c.7132G>C (p.Asp2378His) n.7446G>C c.7144G>C (p.Asp2382His) n.7479G>C | |
| 1 | g.237640916G>T | CA345396574 | RYR2 | c.7135G>T (p.Asp2379Tyr) c.7087G>T (p.Asp2363Tyr) c.7165G>T (p.Asp2389Tyr) c.7162G>T (p.Asp2388Tyr) c.7132G>T (p.Asp2378Tyr) n.7446G>T c.7144G>T (p.Asp2382Tyr) n.7479G>T | |
| 1 | g.237640917A= | CA2487423571 | RYR2 | c.7136A= (p.Asp2379=) c.7088A= (p.Asp2363=) c.7166A= (p.Asp2389=) c.7163A= (p.Asp2388=) c.7133A= (p.Asp2378=) n.7447A= c.7145A= (p.Asp2382=) n.7480A= | |
| 1 | g.237640917A>C | CA345396576 | RYR2 | c.7136A>C (p.Asp2379Ala) c.7088A>C (p.Asp2363Ala) c.7166A>C (p.Asp2389Ala) c.7163A>C (p.Asp2388Ala) c.7133A>C (p.Asp2378Ala) n.7447A>C c.7145A>C (p.Asp2382Ala) n.7480A>C | |
| 1 | g.237640917A>G | CA075469 | RYR2 | c.7136A>G (p.Asp2379Gly) c.7088A>G (p.Asp2363Gly) c.7166A>G (p.Asp2389Gly) c.7163A>G (p.Asp2388Gly) c.7133A>G (p.Asp2378Gly) n.7447A>G c.7145A>G (p.Asp2382Gly) n.7480A>G | dbSNP gnomAD v4 |
| 1 | g.237640917A>T | CA345396578 | RYR2 | c.7136A>T (p.Asp2379Val) c.7088A>T (p.Asp2363Val) c.7166A>T (p.Asp2389Val) c.7163A>T (p.Asp2388Val) c.7133A>T (p.Asp2378Val) n.7447A>T c.7145A>T (p.Asp2382Val) n.7480A>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237640918T>A | CA345396580 | RYR2 | c.7137T>A (p.Asp2379Glu) c.7089T>A (p.Asp2363Glu) c.7167T>A (p.Asp2389Glu) c.7164T>A (p.Asp2388Glu) c.7134T>A (p.Asp2378Glu) n.7448T>A c.7146T>A (p.Asp2382Glu) n.7481T>A | |
| 1 | g.237640918T>C | CA075472 | RYR2 | c.7137T>C (p.Asp2379=) c.7089T>C (p.Asp2363=) c.7167T>C (p.Asp2389=) c.7164T>C (p.Asp2388=) c.7134T>C (p.Asp2378=) n.7448T>C c.7146T>C (p.Asp2382=) n.7481T>C | |
| 1 | g.237640918T>G | CA075475 | RYR2 | c.7137T>G (p.Asp2379Glu) c.7089T>G (p.Asp2363Glu) c.7167T>G (p.Asp2389Glu) c.7164T>G (p.Asp2388Glu) c.7134T>G (p.Asp2378Glu) n.7448T>G c.7146T>G (p.Asp2382Glu) n.7481T>G | |
| 1 | g.237640919G>A | CA345396582 | RYR2 | c.7138G>A (p.Asp2380Asn) c.7090G>A (p.Asp2364Asn) c.7168G>A (p.Asp2390Asn) c.7165G>A (p.Asp2389Asn) c.7135G>A (p.Asp2379Asn) n.7449G>A c.7147G>A (p.Asp2383Asn) n.7482G>A | |
| 1 | g.237640919G>C | CA345396584 | RYR2 | c.7138G>C (p.Asp2380His) c.7090G>C (p.Asp2364His) c.7168G>C (p.Asp2390His) c.7165G>C (p.Asp2389His) c.7135G>C (p.Asp2379His) n.7449G>C c.7147G>C (p.Asp2383His) n.7482G>C | |
| 1 | g.237640919G>T | CA345396585 | RYR2 | c.7138G>T (p.Asp2380Tyr) c.7090G>T (p.Asp2364Tyr) c.7168G>T (p.Asp2390Tyr) c.7165G>T (p.Asp2389Tyr) c.7135G>T (p.Asp2379Tyr) n.7449G>T c.7147G>T (p.Asp2383Tyr) n.7482G>T | |
| 1 | g.237640920A= | CA2487423572 | RYR2 | c.7139A= (p.Asp2380=) c.7091A= (p.Asp2364=) c.7169A= (p.Asp2390=) c.7166A= (p.Asp2389=) c.7136A= (p.Asp2379=) n.7450A= c.7148A= (p.Asp2383=) n.7483A= | |
| 1 | g.237640920A>C | CA345396591 | RYR2 | c.7139A>C (p.Asp2380Ala) c.7091A>C (p.Asp2364Ala) c.7169A>C (p.Asp2390Ala) c.7166A>C (p.Asp2389Ala) c.7136A>C (p.Asp2379Ala) n.7450A>C c.7148A>C (p.Asp2383Ala) n.7483A>C | |
| 1 | g.237640920A>G | CA345396589 | RYR2 | c.7139A>G (p.Asp2380Gly) c.7091A>G (p.Asp2364Gly) c.7169A>G (p.Asp2390Gly) c.7166A>G (p.Asp2389Gly) c.7136A>G (p.Asp2379Gly) n.7450A>G c.7148A>G (p.Asp2383Gly) n.7483A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237640920A>T | CA345396588 | RYR2 | c.7139A>T (p.Asp2380Val) c.7091A>T (p.Asp2364Val) c.7169A>T (p.Asp2390Val) c.7166A>T (p.Asp2389Val) c.7136A>T (p.Asp2379Val) n.7450A>T c.7148A>T (p.Asp2383Val) n.7483A>T | |
| 1 | g.237640921C>A | CA345396592 | RYR2 | c.7140C>A (p.Asp2380Glu) c.7092C>A (p.Asp2364Glu) c.7170C>A (p.Asp2390Glu) c.7167C>A (p.Asp2389Glu) c.7137C>A (p.Asp2379Glu) n.7451C>A c.7149C>A (p.Asp2383Glu) n.7484C>A | |
| 1 | g.237640921C>G | CA345396594 | RYR2 | c.7140C>G (p.Asp2380Glu) c.7092C>G (p.Asp2364Glu) c.7170C>G (p.Asp2390Glu) c.7167C>G (p.Asp2389Glu) c.7137C>G (p.Asp2379Glu) n.7451C>G c.7149C>G (p.Asp2383Glu) n.7484C>G | |
| 1 | g.237640921C>T | CA075479 | RYR2 | c.7140C>T (p.Asp2380=) c.7092C>T (p.Asp2364=) c.7170C>T (p.Asp2390=) c.7167C>T (p.Asp2389=) c.7137C>T (p.Asp2379=) n.7451C>T c.7149C>T (p.Asp2383=) n.7484C>T | ClinVar dbSNP |
| 1 | g.237640922A>C | CA345396596 | RYR2 | c.7141A>C (p.Thr2381Pro) c.7093A>C (p.Thr2365Pro) c.7171A>C (p.Thr2391Pro) c.7168A>C (p.Thr2390Pro) c.7138A>C (p.Thr2380Pro) n.7452A>C c.7150A>C (p.Thr2384Pro) n.7485A>C | |
| 1 | g.237640922A>G | CA345396597 | RYR2 | c.7141A>G (p.Thr2381Ala) c.7093A>G (p.Thr2365Ala) c.7171A>G (p.Thr2391Ala) c.7168A>G (p.Thr2390Ala) c.7138A>G (p.Thr2380Ala) n.7452A>G c.7150A>G (p.Thr2384Ala) n.7485A>G | ClinVar gnomAD v4 |
| 1 | g.237640922A>T | CA345396599 | RYR2 | c.7141A>T (p.Thr2381Ser) c.7093A>T (p.Thr2365Ser) c.7171A>T (p.Thr2391Ser) c.7168A>T (p.Thr2390Ser) c.7138A>T (p.Thr2380Ser) n.7452A>T c.7150A>T (p.Thr2384Ser) n.7485A>T | |
| 1 | g.237640923C>A | CA345396600 | RYR2 | c.7142C>A (p.Thr2381Asn) c.7094C>A (p.Thr2365Asn) c.7172C>A (p.Thr2391Asn) c.7169C>A (p.Thr2390Asn) c.7139C>A (p.Thr2380Asn) n.7453C>A c.7151C>A (p.Thr2384Asn) n.7486C>A | |
| 1 | g.237640923C= | CA2487423573 | RYR2 | c.7142C= (p.Thr2381=) c.7094C= (p.Thr2365=) c.7172C= (p.Thr2391=) c.7169C= (p.Thr2390=) c.7139C= (p.Thr2380=) n.7453C= c.7151C= (p.Thr2384=) n.7486C= | |
| 1 | g.237640923C>G | CA345396602 | RYR2 | c.7142C>G (p.Thr2381Ser) c.7094C>G (p.Thr2365Ser) c.7172C>G (p.Thr2391Ser) c.7169C>G (p.Thr2390Ser) c.7139C>G (p.Thr2380Ser) n.7453C>G c.7151C>G (p.Thr2384Ser) n.7486C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237640923C>T | CA345396603 | RYR2 | c.7142C>T (p.Thr2381Ile) c.7094C>T (p.Thr2365Ile) c.7172C>T (p.Thr2391Ile) c.7169C>T (p.Thr2390Ile) c.7139C>T (p.Thr2380Ile) n.7453C>T c.7151C>T (p.Thr2384Ile) n.7486C>T | |
| 1 | g.237640924T>A | CA423819299 | RYR2 | c.7143T>A (p.Thr2381=) c.7095T>A (p.Thr2365=) c.7173T>A (p.Thr2391=) c.7170T>A (p.Thr2390=) c.7140T>A (p.Thr2380=) n.7454T>A c.7152T>A (p.Thr2384=) n.7487T>A | |
| 1 | g.237640924T>C | CA087309 | RYR2 | c.7143T>C (p.Thr2381=) c.7095T>C (p.Thr2365=) c.7173T>C (p.Thr2391=) c.7170T>C (p.Thr2390=) c.7140T>C (p.Thr2380=) n.7454T>C c.7152T>C (p.Thr2384=) n.7487T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640924T>G | CA423819300 | RYR2 | c.7143T>G (p.Thr2381=) c.7095T>G (p.Thr2365=) c.7173T>G (p.Thr2391=) c.7170T>G (p.Thr2390=) c.7140T>G (p.Thr2380=) n.7454T>G c.7152T>G (p.Thr2384=) n.7487T>G | |
| 1 | g.237640924T= | CA1146441034 | RYR2 | c.7143T= (p.Thr2381=) c.7095T= (p.Thr2365=) c.7173T= (p.Thr2391=) c.7170T= (p.Thr2390=) c.7140T= (p.Thr2380=) n.7454T= c.7152T= (p.Thr2384=) n.7487T= | |
| 1 | g.237640925A= | CA2487423574 | RYR2 | c.7144A= (p.Ile2382=) c.7096A= (p.Ile2366=) c.7174A= (p.Ile2392=) c.7171A= (p.Ile2391=) c.7141A= (p.Ile2381=) n.7455A= c.7153A= (p.Ile2385=) n.7488A= | |
| 1 | g.237640925A>C | CA345396604 | RYR2 | c.7144A>C (p.Ile2382Leu) c.7096A>C (p.Ile2366Leu) c.7174A>C (p.Ile2392Leu) c.7171A>C (p.Ile2391Leu) c.7141A>C (p.Ile2381Leu) n.7455A>C c.7153A>C (p.Ile2385Leu) n.7488A>C | |
| 1 | g.237640925A>G | CA345396606 | RYR2 | c.7144A>G (p.Ile2382Val) c.7096A>G (p.Ile2366Val) c.7174A>G (p.Ile2392Val) c.7171A>G (p.Ile2391Val) c.7141A>G (p.Ile2381Val) n.7455A>G c.7153A>G (p.Ile2385Val) n.7488A>G | ClinVar dbSNP |
| 1 | g.237640925A>T | CA345396608 | RYR2 | c.7144A>T (p.Ile2382Phe) c.7096A>T (p.Ile2366Phe) c.7174A>T (p.Ile2392Phe) c.7171A>T (p.Ile2391Phe) c.7141A>T (p.Ile2381Phe) n.7455A>T c.7153A>T (p.Ile2385Phe) n.7488A>T | |
| 1 | g.237640926T>A | CA345396612 | RYR2 | c.7145T>A (p.Ile2382Asn) c.7097T>A (p.Ile2366Asn) c.7175T>A (p.Ile2392Asn) c.7172T>A (p.Ile2391Asn) c.7142T>A (p.Ile2381Asn) n.7456T>A c.7154T>A (p.Ile2385Asn) n.7489T>A | |
| 1 | g.237640926T>C | CA345396614 | RYR2 | c.7145T>C (p.Ile2382Thr) c.7097T>C (p.Ile2366Thr) c.7175T>C (p.Ile2392Thr) c.7172T>C (p.Ile2391Thr) c.7142T>C (p.Ile2381Thr) n.7456T>C c.7154T>C (p.Ile2385Thr) n.7489T>C | gnomAD v4 |
| 1 | g.237640926T>G | CA345396610 | RYR2 | c.7145T>G (p.Ile2382Ser) c.7097T>G (p.Ile2366Ser) c.7175T>G (p.Ile2392Ser) c.7172T>G (p.Ile2391Ser) c.7142T>G (p.Ile2381Ser) n.7456T>G c.7154T>G (p.Ile2385Ser) n.7489T>G | |
| 1 | g.237640927C>A | CA423819303 | RYR2 | c.7146C>A (p.Ile2382=) c.7098C>A (p.Ile2366=) c.7176C>A (p.Ile2392=) c.7173C>A (p.Ile2391=) c.7143C>A (p.Ile2381=) n.7457C>A c.7155C>A (p.Ile2385=) n.7490C>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640927C= | CA2487423575 | RYR2 | c.7146C= (p.Ile2382=) c.7098C= (p.Ile2366=) c.7176C= (p.Ile2392=) c.7173C= (p.Ile2391=) c.7143C= (p.Ile2381=) n.7457C= c.7155C= (p.Ile2385=) n.7490C= | |
| 1 | g.237640927C>G | CA345396616 | RYR2 | c.7146C>G (p.Ile2382Met) c.7098C>G (p.Ile2366Met) c.7176C>G (p.Ile2392Met) c.7173C>G (p.Ile2391Met) c.7143C>G (p.Ile2381Met) n.7457C>G c.7155C>G (p.Ile2385Met) n.7490C>G | |
| 1 | g.237640927C>T | CA075534 | RYR2 | c.7146C>T (p.Ile2382=) c.7098C>T (p.Ile2366=) c.7176C>T (p.Ile2392=) c.7173C>T (p.Ile2391=) c.7143C>T (p.Ile2381=) n.7457C>T c.7155C>T (p.Ile2385=) n.7490C>T | dbSNP |
| 1 | g.237640928C>A | CA345396617 | RYR2 | c.7147C>A (p.His2383Asn) c.7099C>A (p.His2367Asn) c.7177C>A (p.His2393Asn) c.7174C>A (p.His2392Asn) c.7144C>A (p.His2382Asn) n.7458C>A c.7156C>A (p.His2386Asn) n.7491C>A | |
| 1 | g.237640928C>G | CA345396619 | RYR2 | c.7147C>G (p.His2383Asp) c.7099C>G (p.His2367Asp) c.7177C>G (p.His2393Asp) c.7174C>G (p.His2392Asp) c.7144C>G (p.His2382Asp) n.7458C>G c.7156C>G (p.His2386Asp) n.7491C>G | |
| 1 | g.237640928C>T | CA345396621 | RYR2 | c.7147C>T (p.His2383Tyr) c.7099C>T (p.His2367Tyr) c.7177C>T (p.His2393Tyr) c.7174C>T (p.His2392Tyr) c.7144C>T (p.His2382Tyr) n.7458C>T c.7156C>T (p.His2386Tyr) n.7491C>T | ClinVar dbSNP |
| 1 | g.237640929A>C | CA345396624 | RYR2 | c.7148A>C (p.His2383Pro) c.7100A>C (p.His2367Pro) c.7178A>C (p.His2393Pro) c.7175A>C (p.His2392Pro) c.7145A>C (p.His2382Pro) n.7459A>C c.7157A>C (p.His2386Pro) n.7492A>C | |
| 1 | g.237640929A>G | CA345396623 | RYR2 | c.7148A>G (p.His2383Arg) c.7100A>G (p.His2367Arg) c.7178A>G (p.His2393Arg) c.7175A>G (p.His2392Arg) c.7145A>G (p.His2382Arg) n.7459A>G c.7157A>G (p.His2386Arg) n.7492A>G | |
| 1 | g.237640929A>T | CA345396622 | RYR2 | c.7148A>T (p.His2383Leu) c.7100A>T (p.His2367Leu) c.7178A>T (p.His2393Leu) c.7175A>T (p.His2392Leu) c.7145A>T (p.His2382Leu) n.7459A>T c.7157A>T (p.His2386Leu) n.7492A>T | |
| 1 | g.237640930C>A | CA345396625 | RYR2 | c.7149C>A (p.His2383Gln) c.7101C>A (p.His2367Gln) c.7179C>A (p.His2393Gln) c.7176C>A (p.His2392Gln) c.7146C>A (p.His2382Gln) n.7460C>A c.7158C>A (p.His2386Gln) n.7493C>A | |
| 1 | g.237640930C= | CA1142637990 | RYR2 | c.7149C= (p.His2383=) c.7101C= (p.His2367=) c.7179C= (p.His2393=) c.7176C= (p.His2392=) c.7146C= (p.His2382=) n.7460C= c.7158C= (p.His2386=) n.7493C= | |
| 1 | g.237640930C>G | CA345396626 | RYR2 | c.7149C>G (p.His2383Gln) c.7101C>G (p.His2367Gln) c.7179C>G (p.His2393Gln) c.7176C>G (p.His2392Gln) c.7146C>G (p.His2382Gln) n.7460C>G c.7158C>G (p.His2386Gln) n.7493C>G | |
| 1 | g.237640930C>T | CA087310 | RYR2 | c.7149C>T (p.His2383=) c.7101C>T (p.His2367=) c.7179C>T (p.His2393=) c.7176C>T (p.His2392=) c.7146C>T (p.His2382=) n.7460C>T c.7158C>T (p.His2386=) n.7493C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640931A>C | CA345396627 | RYR2 | c.7150A>C (p.Met2384Leu) c.7102A>C (p.Met2368Leu) c.7180A>C (p.Met2394Leu) c.7177A>C (p.Met2393Leu) c.7147A>C (p.Met2383Leu) n.7461A>C c.7159A>C (p.Met2387Leu) n.7494A>C | |
| 1 | g.237640931A>G | CA075485 | RYR2 | c.7150A>G (p.Met2384Val) c.7102A>G (p.Met2368Val) c.7180A>G (p.Met2394Val) c.7177A>G (p.Met2393Val) c.7147A>G (p.Met2383Val) n.7461A>G c.7159A>G (p.Met2387Val) n.7494A>G | ClinVar gnomAD v4 |
| 1 | g.237640931A>T | CA345396628 | RYR2 | c.7150A>T (p.Met2384Leu) c.7102A>T (p.Met2368Leu) c.7180A>T (p.Met2394Leu) c.7177A>T (p.Met2393Leu) c.7147A>T (p.Met2383Leu) n.7461A>T c.7159A>T (p.Met2387Leu) n.7494A>T | |
| 1 | g.237640932T>A | CA345396629 | RYR2 | c.7151T>A (p.Met2384Lys) c.7103T>A (p.Met2368Lys) c.7181T>A (p.Met2394Lys) c.7178T>A (p.Met2393Lys) c.7148T>A (p.Met2383Lys) n.7462T>A c.7160T>A (p.Met2387Lys) n.7495T>A | |
| 1 | g.237640932T>C | CA345396632 | RYR2 | c.7151T>C (p.Met2384Thr) c.7103T>C (p.Met2368Thr) c.7181T>C (p.Met2394Thr) c.7178T>C (p.Met2393Thr) c.7148T>C (p.Met2383Thr) n.7462T>C c.7160T>C (p.Met2387Thr) n.7495T>C | gnomAD v4 |
| 1 | g.237640932T>G | CA345396631 | RYR2 | c.7151T>G (p.Met2384Arg) c.7103T>G (p.Met2368Arg) c.7181T>G (p.Met2394Arg) c.7178T>G (p.Met2393Arg) c.7148T>G (p.Met2383Arg) n.7462T>G c.7160T>G (p.Met2387Arg) n.7495T>G | |
| 1 | g.237640933G>A | CA345396633 | RYR2 | c.7152G>A (p.Met2384Ile) c.7104G>A (p.Met2368Ile) c.7182G>A (p.Met2394Ile) c.7179G>A (p.Met2393Ile) c.7149G>A (p.Met2383Ile) n.7463G>A c.7161G>A (p.Met2387Ile) n.7496G>A | |
| 1 | g.237640933G>C | CA345396635 | RYR2 | c.7152G>C (p.Met2384Ile) c.7104G>C (p.Met2368Ile) c.7182G>C (p.Met2394Ile) c.7179G>C (p.Met2393Ile) c.7149G>C (p.Met2383Ile) n.7463G>C c.7161G>C (p.Met2387Ile) n.7496G>C | |
| 1 | g.237640933G>T | CA345396634 | RYR2 | c.7152G>T (p.Met2384Ile) c.7104G>T (p.Met2368Ile) c.7182G>T (p.Met2394Ile) c.7179G>T (p.Met2393Ile) c.7149G>T (p.Met2383Ile) n.7463G>T c.7161G>T (p.Met2387Ile) n.7496G>T | |
| 1 | g.237640934G>A | CA345396637 | RYR2 | c.7153G>A (p.Gly2385Arg) c.7105G>A (p.Gly2369Arg) c.7183G>A (p.Gly2395Arg) c.7180G>A (p.Gly2394Arg) c.7150G>A (p.Gly2384Arg) n.7464G>A c.7162G>A (p.Gly2388Arg) n.7497G>A | |
| 1 | g.237640934G>C | CA39789549 | RYR2 | c.7153G>C (p.Gly2385Arg) c.7105G>C (p.Gly2369Arg) c.7183G>C (p.Gly2395Arg) c.7180G>C (p.Gly2394Arg) c.7150G>C (p.Gly2384Arg) n.7464G>C c.7162G>C (p.Gly2388Arg) n.7497G>C | dbSNP |
| 1 | g.237640934G= | CA2487423576 | RYR2 | c.7153G= (p.Gly2385=) c.7105G= (p.Gly2369=) c.7183G= (p.Gly2395=) c.7180G= (p.Gly2394=) c.7150G= (p.Gly2384=) n.7464G= c.7162G= (p.Gly2388=) n.7497G= | |
| 1 | g.237640934G>T | CA345396639 | RYR2 | c.7153G>T (p.Gly2385Trp) c.7105G>T (p.Gly2369Trp) c.7183G>T (p.Gly2395Trp) c.7180G>T (p.Gly2394Trp) c.7150G>T (p.Gly2384Trp) n.7464G>T c.7162G>T (p.Gly2388Trp) n.7497G>T | |
| 1 | g.237640935G>A | CA345396641 | RYR2 | c.7154G>A (p.Gly2385Glu) c.7106G>A (p.Gly2369Glu) c.7184G>A (p.Gly2395Glu) c.7181G>A (p.Gly2394Glu) c.7151G>A (p.Gly2384Glu) n.7465G>A c.7163G>A (p.Gly2388Glu) n.7498G>A | |
| 1 | g.237640935G>C | CA345396643 | RYR2 | c.7154G>C (p.Gly2385Ala) c.7106G>C (p.Gly2369Ala) c.7184G>C (p.Gly2395Ala) c.7181G>C (p.Gly2394Ala) c.7151G>C (p.Gly2384Ala) n.7465G>C c.7163G>C (p.Gly2388Ala) n.7498G>C | |
| 1 | g.237640935G>T | CA345396645 | RYR2 | c.7154G>T (p.Gly2385Val) c.7106G>T (p.Gly2369Val) c.7184G>T (p.Gly2395Val) c.7181G>T (p.Gly2394Val) c.7151G>T (p.Gly2384Val) n.7465G>T c.7163G>T (p.Gly2388Val) n.7498G>T | |
| 1 | g.237640936G>A | CA423819310 | RYR2 | c.7155G>A (p.Gly2385=) c.7107G>A (p.Gly2369=) c.7185G>A (p.Gly2395=) c.7182G>A (p.Gly2394=) c.7152G>A (p.Gly2384=) n.7466G>A c.7164G>A (p.Gly2388=) n.7499G>A | |
| 1 | g.237640936G>C | CA423819311 | RYR2 | c.7155G>C (p.Gly2385=) c.7107G>C (p.Gly2369=) c.7185G>C (p.Gly2395=) c.7182G>C (p.Gly2394=) c.7152G>C (p.Gly2384=) n.7466G>C c.7164G>C (p.Gly2388=) n.7499G>C | ClinVar dbSNP |
| 1 | g.237640936G= | CA2487423577 | RYR2 | c.7155G= (p.Gly2385=) c.7107G= (p.Gly2369=) c.7185G= (p.Gly2395=) c.7182G= (p.Gly2394=) c.7152G= (p.Gly2384=) n.7466G= c.7164G= (p.Gly2388=) n.7499G= | |
| 1 | g.237640936G>T | CA010555 | RYR2 | c.7155G>T (p.Gly2385=) c.7107G>T (p.Gly2369=) c.7185G>T (p.Gly2395=) c.7182G>T (p.Gly2394=) c.7152G>T (p.Gly2384=) n.7466G>T c.7164G>T (p.Gly2388=) n.7499G>T | ClinVar dbSNP |
| 1 | g.237640937A= | CA2487423578 | RYR2 | c.7156A= (p.Asn2386=) c.7108A= (p.Asn2370=) c.7186A= (p.Asn2396=) c.7183A= (p.Asn2395=) c.7153A= (p.Asn2385=) n.7467A= c.7165A= (p.Asn2389=) n.7500A= | |
| 1 | g.237640937A>C | CA345396647 | RYR2 | c.7156A>C (p.Asn2386His) c.7108A>C (p.Asn2370His) c.7186A>C (p.Asn2396His) c.7183A>C (p.Asn2395His) c.7153A>C (p.Asn2385His) n.7467A>C c.7165A>C (p.Asn2389His) n.7500A>C | |
| 1 | g.237640937A>G | CA345396648 | RYR2 | c.7156A>G (p.Asn2386Asp) c.7108A>G (p.Asn2370Asp) c.7186A>G (p.Asn2396Asp) c.7183A>G (p.Asn2395Asp) c.7153A>G (p.Asn2385Asp) n.7467A>G c.7165A>G (p.Asn2389Asp) n.7500A>G | ClinVar dbSNP |
| 1 | g.237640937A>T | CA345396651 | RYR2 | c.7156A>T (p.Asn2386Tyr) c.7108A>T (p.Asn2370Tyr) c.7186A>T (p.Asn2396Tyr) c.7183A>T (p.Asn2395Tyr) c.7153A>T (p.Asn2385Tyr) n.7467A>T c.7165A>T (p.Asn2389Tyr) n.7500A>T | |
| 1 | g.237640938A= | CA1141581463 | RYR2 | c.7157A= (p.Asn2386=) c.7109A= (p.Asn2370=) c.7187A= (p.Asn2396=) c.7184A= (p.Asn2395=) c.7154A= (p.Asn2385=) n.7468A= c.7166A= (p.Asn2389=) n.7501A= | |
| 1 | g.237640938A>C | CA345396653 | RYR2 | c.7157A>C (p.Asn2386Thr) c.7109A>C (p.Asn2370Thr) c.7187A>C (p.Asn2396Thr) c.7184A>C (p.Asn2395Thr) c.7154A>C (p.Asn2385Thr) n.7468A>C c.7166A>C (p.Asn2389Thr) n.7501A>C | |
| 1 | g.237640938A>G | CA345396654 | RYR2 | c.7157A>G (p.Asn2386Ser) c.7109A>G (p.Asn2370Ser) c.7187A>G (p.Asn2396Ser) c.7184A>G (p.Asn2395Ser) c.7154A>G (p.Asn2385Ser) n.7468A>G c.7166A>G (p.Asn2389Ser) n.7501A>G | |
| 1 | g.237640938A>T | CA010563 | RYR2 | c.7157A>T (p.Asn2386Ile) c.7109A>T (p.Asn2370Ile) c.7187A>T (p.Asn2396Ile) c.7184A>T (p.Asn2395Ile) c.7154A>T (p.Asn2385Ile) n.7468A>T c.7166A>T (p.Asn2389Ile) n.7501A>T | ClinVar dbSNP |
| 1 | g.237640939C>A | CA345396659 | RYR2 | c.7158C>A (p.Asn2386Lys) c.7110C>A (p.Asn2370Lys) c.7188C>A (p.Asn2396Lys) c.7185C>A (p.Asn2395Lys) c.7155C>A (p.Asn2385Lys) n.7469C>A c.7167C>A (p.Asn2389Lys) n.7502C>A | ClinVar dbSNP |
| 1 | g.237640939C= | CA1144101545 | RYR2 | c.7158C= (p.Asn2386=) c.7110C= (p.Asn2370=) c.7188C= (p.Asn2396=) c.7185C= (p.Asn2395=) c.7155C= (p.Asn2385=) n.7469C= c.7167C= (p.Asn2389=) n.7502C= | |
| 1 | g.237640939C>G | CA345396658 | RYR2 | c.7158C>G (p.Asn2386Lys) c.7110C>G (p.Asn2370Lys) c.7188C>G (p.Asn2396Lys) c.7185C>G (p.Asn2395Lys) c.7155C>G (p.Asn2385Lys) n.7469C>G c.7167C>G (p.Asn2389Lys) n.7502C>G | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237640939C>T | CA087311 | RYR2 | c.7158C>T (p.Asn2386=) c.7110C>T (p.Asn2370=) c.7188C>T (p.Asn2396=) c.7185C>T (p.Asn2395=) c.7155C>T (p.Asn2385=) n.7469C>T c.7167C>T (p.Asn2389=) n.7502C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640940G>A | CA010573 | RYR2 | c.7159G>A (p.Ala2387Thr) c.7111G>A (p.Ala2371Thr) c.7189G>A (p.Ala2397Thr) c.7186G>A (p.Ala2396Thr) c.7156G>A (p.Ala2386Thr) n.7470G>A c.7168G>A (p.Ala2390Thr) n.7503G>A | ClinVar dbSNP |
| 1 | g.237640940G>C | CA345396661 | RYR2 | c.7159G>C (p.Ala2387Pro) c.7111G>C (p.Ala2371Pro) c.7189G>C (p.Ala2397Pro) c.7186G>C (p.Ala2396Pro) c.7156G>C (p.Ala2386Pro) n.7470G>C c.7168G>C (p.Ala2390Pro) n.7503G>C | dbSNP |
| 1 | g.237640940G= | CA2487423579 | RYR2 | c.7159G= (p.Ala2387=) c.7111G= (p.Ala2371=) c.7189G= (p.Ala2397=) c.7186G= (p.Ala2396=) c.7156G= (p.Ala2386=) n.7470G= c.7168G= (p.Ala2390=) n.7503G= | |
| 1 | g.237640940G>T | CA075549 | RYR2 | c.7159G>T (p.Ala2387Ser) c.7111G>T (p.Ala2371Ser) c.7189G>T (p.Ala2397Ser) c.7186G>T (p.Ala2396Ser) c.7156G>T (p.Ala2386Ser) n.7470G>T c.7168G>T (p.Ala2390Ser) n.7503G>T | |
| 1 | g.237640941C>A | CA345396662 | RYR2 | c.7160C>A (p.Ala2387Glu) c.7112C>A (p.Ala2371Glu) c.7190C>A (p.Ala2397Glu) c.7187C>A (p.Ala2396Glu) c.7157C>A (p.Ala2386Glu) n.7471C>A c.7169C>A (p.Ala2390Glu) n.7504C>A | |
| 1 | g.237640941C= | CA2487423580 | RYR2 | c.7160C= (p.Ala2387=) c.7112C= (p.Ala2371=) c.7190C= (p.Ala2397=) c.7187C= (p.Ala2396=) c.7157C= (p.Ala2386=) n.7471C= c.7169C= (p.Ala2390=) n.7504C= | |
| 1 | g.237640941C>G | CA345396663 | RYR2 | c.7160C>G (p.Ala2387Gly) c.7112C>G (p.Ala2371Gly) c.7190C>G (p.Ala2397Gly) c.7187C>G (p.Ala2396Gly) c.7157C>G (p.Ala2386Gly) n.7471C>G c.7169C>G (p.Ala2390Gly) n.7504C>G | |
| 1 | g.237640941C>T | CA010582 | RYR2 | c.7160C>T (p.Ala2387Val) c.7112C>T (p.Ala2371Val) c.7190C>T (p.Ala2397Val) c.7187C>T (p.Ala2396Val) c.7157C>T (p.Ala2386Val) n.7471C>T c.7169C>T (p.Ala2390Val) n.7504C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.237640942G>A | CA010591 | RYR2 | c.7161G>A (p.Ala2387=) c.7113G>A (p.Ala2371=) c.7191G>A (p.Ala2397=) c.7188G>A (p.Ala2396=) c.7158G>A (p.Ala2386=) n.7472G>A c.7170G>A (p.Ala2390=) n.7505G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640942G>C | CA087312 | RYR2 | c.7161G>C (p.Ala2387=) c.7113G>C (p.Ala2371=) c.7191G>C (p.Ala2397=) c.7188G>C (p.Ala2396=) c.7158G>C (p.Ala2386=) n.7472G>C c.7170G>C (p.Ala2390=) n.7505G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640942G= | CA1143804329 | RYR2 | c.7161G= (p.Ala2387=) c.7113G= (p.Ala2371=) c.7191G= (p.Ala2397=) c.7188G= (p.Ala2396=) c.7158G= (p.Ala2386=) n.7472G= c.7170G= (p.Ala2390=) n.7505G= | |
| 1 | g.237640942G>T | CA423819314 | RYR2 | c.7161G>T (p.Ala2387=) c.7113G>T (p.Ala2371=) c.7191G>T (p.Ala2397=) c.7188G>T (p.Ala2396=) c.7158G>T (p.Ala2386=) n.7472G>T c.7170G>T (p.Ala2390=) n.7505G>T | |
| 1 | g.237640943A>C | CA345396666 | RYR2 | c.7162A>C (p.Ile2388Leu) c.7114A>C (p.Ile2372Leu) c.7192A>C (p.Ile2398Leu) c.7189A>C (p.Ile2397Leu) c.7159A>C (p.Ile2387Leu) n.7473A>C c.7171A>C (p.Ile2391Leu) n.7506A>C | |
| 1 | g.237640943A>G | CA345396668 | RYR2 | c.7162A>G (p.Ile2388Val) c.7114A>G (p.Ile2372Val) c.7192A>G (p.Ile2398Val) c.7189A>G (p.Ile2397Val) c.7159A>G (p.Ile2387Val) n.7473A>G c.7171A>G (p.Ile2391Val) n.7506A>G | |
| 1 | g.237640943A>T | CA345396670 | RYR2 | c.7162A>T (p.Ile2388Phe) c.7114A>T (p.Ile2372Phe) c.7192A>T (p.Ile2398Phe) c.7189A>T (p.Ile2397Phe) c.7159A>T (p.Ile2387Phe) n.7473A>T c.7171A>T (p.Ile2391Phe) n.7506A>T | |
| 1 | g.237640944T>A | CA345396673 | RYR2 | c.7163T>A (p.Ile2388Asn) c.7115T>A (p.Ile2372Asn) c.7193T>A (p.Ile2398Asn) c.7190T>A (p.Ile2397Asn) c.7160T>A (p.Ile2387Asn) n.7474T>A c.7172T>A (p.Ile2391Asn) n.7507T>A | |
| 1 | g.237640944T>C | CA345396676 | RYR2 | c.7163T>C (p.Ile2388Thr) c.7115T>C (p.Ile2372Thr) c.7193T>C (p.Ile2398Thr) c.7190T>C (p.Ile2397Thr) c.7160T>C (p.Ile2387Thr) n.7474T>C c.7172T>C (p.Ile2391Thr) n.7507T>C | |
| 1 | g.237640944T>G | CA345396672 | RYR2 | c.7163T>G (p.Ile2388Ser) c.7115T>G (p.Ile2372Ser) c.7193T>G (p.Ile2398Ser) c.7190T>G (p.Ile2397Ser) c.7160T>G (p.Ile2387Ser) n.7474T>G c.7172T>G (p.Ile2391Ser) n.7507T>G | |
| 1 | g.237640945C>A | CA423819316 | RYR2 | c.7164C>A (p.Ile2388=) c.7116C>A (p.Ile2372=) c.7194C>A (p.Ile2398=) c.7191C>A (p.Ile2397=) c.7161C>A (p.Ile2387=) n.7475C>A c.7173C>A (p.Ile2391=) n.7508C>A | |
| 1 | g.237640945C>G | CA345396677 | RYR2 | c.7164C>G (p.Ile2388Met) c.7116C>G (p.Ile2372Met) c.7194C>G (p.Ile2398Met) c.7191C>G (p.Ile2397Met) c.7161C>G (p.Ile2387Met) n.7475C>G c.7173C>G (p.Ile2391Met) n.7508C>G | |
| 1 | g.237640945C>T | CA423819317 | RYR2 | c.7164C>T (p.Ile2388=) c.7116C>T (p.Ile2372=) c.7194C>T (p.Ile2398=) c.7191C>T (p.Ile2397=) c.7161C>T (p.Ile2387=) n.7475C>T c.7173C>T (p.Ile2391=) n.7508C>T | |
| 1 | g.237640946A= | CA1148280428 | RYR2 | c.7165A= (p.Met2389=) c.7117A= (p.Met2373=) c.7195A= (p.Met2399=) c.7192A= (p.Met2398=) c.7162A= (p.Met2388=) n.7476A= c.7174A= (p.Met2392=) n.7509A= | |
| 1 | g.237640946A>C | CA087313 | RYR2 | c.7165A>C (p.Met2389Leu) c.7117A>C (p.Met2373Leu) c.7195A>C (p.Met2399Leu) c.7192A>C (p.Met2398Leu) c.7162A>C (p.Met2388Leu) n.7476A>C c.7174A>C (p.Met2392Leu) n.7509A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640946A>G | CA345396680 | RYR2 | c.7165A>G (p.Met2389Val) c.7117A>G (p.Met2373Val) c.7195A>G (p.Met2399Val) c.7192A>G (p.Met2398Val) c.7162A>G (p.Met2388Val) n.7476A>G c.7174A>G (p.Met2392Val) n.7509A>G | dbSNP |
| 1 | g.237640946A>T | CA345396681 | RYR2 | c.7165A>T (p.Met2389Leu) c.7117A>T (p.Met2373Leu) c.7195A>T (p.Met2399Leu) c.7192A>T (p.Met2398Leu) c.7162A>T (p.Met2388Leu) n.7476A>T c.7174A>T (p.Met2392Leu) n.7509A>T | gnomAD v4 |
| 1 | g.237640947T>A | CA345396687 | RYR2 | c.7166T>A (p.Met2389Lys) c.7118T>A (p.Met2373Lys) c.7196T>A (p.Met2399Lys) c.7193T>A (p.Met2398Lys) c.7163T>A (p.Met2388Lys) n.7477T>A c.7175T>A (p.Met2392Lys) n.7510T>A | |
| 1 | g.237640947T>C | CA345396685 | RYR2 | c.7166T>C (p.Met2389Thr) c.7118T>C (p.Met2373Thr) c.7196T>C (p.Met2399Thr) c.7193T>C (p.Met2398Thr) c.7163T>C (p.Met2388Thr) n.7477T>C c.7175T>C (p.Met2392Thr) n.7510T>C | |
| 1 | g.237640947T>G | CA345396683 | RYR2 | c.7166T>G (p.Met2389Arg) c.7118T>G (p.Met2373Arg) c.7196T>G (p.Met2399Arg) c.7193T>G (p.Met2398Arg) c.7163T>G (p.Met2388Arg) n.7477T>G c.7175T>G (p.Met2392Arg) n.7510T>G | |
| 1 | g.237640948G>A | CA345396689 | RYR2 | c.7167G>A (p.Met2389Ile) c.7119G>A (p.Met2373Ile) c.7197G>A (p.Met2399Ile) c.7194G>A (p.Met2398Ile) c.7164G>A (p.Met2388Ile) n.7478G>A c.7176G>A (p.Met2392Ile) n.7511G>A | dbSNP |
| 1 | g.237640948G>C | CA345396691 | RYR2 | c.7167G>C (p.Met2389Ile) c.7119G>C (p.Met2373Ile) c.7197G>C (p.Met2399Ile) c.7194G>C (p.Met2398Ile) c.7164G>C (p.Met2388Ile) n.7478G>C c.7176G>C (p.Met2392Ile) n.7511G>C | |
| 1 | g.237640948G= | CA2487423581 | RYR2 | c.7167G= (p.Met2389=) c.7119G= (p.Met2373=) c.7197G= (p.Met2399=) c.7194G= (p.Met2398=) c.7164G= (p.Met2388=) n.7478G= c.7176G= (p.Met2392=) n.7511G= | |
| 1 | g.237640948G>T | CA345396692 | RYR2 | c.7167G>T (p.Met2389Ile) c.7119G>T (p.Met2373Ile) c.7197G>T (p.Met2399Ile) c.7194G>T (p.Met2398Ile) c.7164G>T (p.Met2388Ile) n.7478G>T c.7176G>T (p.Met2392Ile) n.7511G>T | |
| 1 | g.237640949A>C | CA345396694 | RYR2 | c.7168A>C (p.Thr2390Pro) c.7120A>C (p.Thr2374Pro) c.7198A>C (p.Thr2400Pro) c.7195A>C (p.Thr2399Pro) c.7165A>C (p.Thr2389Pro) n.7479A>C c.7177A>C (p.Thr2393Pro) n.7512A>C | |
| 1 | g.237640949A>G | CA345396696 | RYR2 | c.7168A>G (p.Thr2390Ala) c.7120A>G (p.Thr2374Ala) c.7198A>G (p.Thr2400Ala) c.7195A>G (p.Thr2399Ala) c.7165A>G (p.Thr2389Ala) n.7479A>G c.7177A>G (p.Thr2393Ala) n.7512A>G | |
| 1 | g.237640949A>T | CA345396697 | RYR2 | c.7168A>T (p.Thr2390Ser) c.7120A>T (p.Thr2374Ser) c.7198A>T (p.Thr2400Ser) c.7195A>T (p.Thr2399Ser) c.7165A>T (p.Thr2389Ser) n.7479A>T c.7177A>T (p.Thr2393Ser) n.7512A>T | |
| 1 | g.237640950C>A | CA39789555 | RYR2 | c.7169C>A (p.Thr2390Asn) c.7121C>A (p.Thr2374Asn) c.7199C>A (p.Thr2400Asn) c.7196C>A (p.Thr2399Asn) c.7166C>A (p.Thr2389Asn) n.7480C>A c.7178C>A (p.Thr2393Asn) n.7513C>A | dbSNP |
| 1 | g.237640950C= | CA2487423582 | RYR2 | c.7169C= (p.Thr2390=) c.7121C= (p.Thr2374=) c.7199C= (p.Thr2400=) c.7196C= (p.Thr2399=) c.7166C= (p.Thr2389=) n.7480C= c.7178C= (p.Thr2393=) n.7513C= | |
| 1 | g.237640950C>G | CA345396701 | RYR2 | c.7169C>G (p.Thr2390Ser) c.7121C>G (p.Thr2374Ser) c.7199C>G (p.Thr2400Ser) c.7196C>G (p.Thr2399Ser) c.7166C>G (p.Thr2389Ser) n.7480C>G c.7178C>G (p.Thr2393Ser) n.7513C>G | |
| 1 | g.237640950C>T | CA345396699 | RYR2 | c.7169C>T (p.Thr2390Ile) c.7121C>T (p.Thr2374Ile) c.7199C>T (p.Thr2400Ile) c.7196C>T (p.Thr2399Ile) c.7166C>T (p.Thr2389Ile) n.7480C>T c.7178C>T (p.Thr2393Ile) n.7513C>T | |
| 1 | g.237640951C>A | CA423819321 | RYR2 | c.7170C>A (p.Thr2390=) c.7122C>A (p.Thr2374=) c.7200C>A (p.Thr2400=) c.7197C>A (p.Thr2399=) c.7167C>A (p.Thr2389=) n.7481C>A c.7179C>A (p.Thr2393=) n.7514C>A | |
| 1 | g.237640951C>G | CA423819322 | RYR2 | c.7170C>G (p.Thr2390=) c.7122C>G (p.Thr2374=) c.7200C>G (p.Thr2400=) c.7197C>G (p.Thr2399=) c.7167C>G (p.Thr2389=) n.7481C>G c.7179C>G (p.Thr2393=) n.7514C>G | |
| 1 | g.237640951C>T | CA423819323 | RYR2 | c.7170C>T (p.Thr2390=) c.7122C>T (p.Thr2374=) c.7200C>T (p.Thr2400=) c.7197C>T (p.Thr2399=) c.7167C>T (p.Thr2389=) n.7481C>T c.7179C>T (p.Thr2393=) n.7514C>T | |
| 1 | g.237640952T>A | CA345396702 | RYR2 | c.7171T>A (p.Phe2391Ile) c.7123T>A (p.Phe2375Ile) c.7201T>A (p.Phe2401Ile) c.7198T>A (p.Phe2400Ile) c.7168T>A (p.Phe2390Ile) n.7482T>A c.7180T>A (p.Phe2394Ile) n.7515T>A | |
| 1 | g.237640952T>C | CA345396704 | RYR2 | c.7171T>C (p.Phe2391Leu) c.7123T>C (p.Phe2375Leu) c.7201T>C (p.Phe2401Leu) c.7198T>C (p.Phe2400Leu) c.7168T>C (p.Phe2390Leu) n.7482T>C c.7180T>C (p.Phe2394Leu) n.7515T>C | |
| 1 | g.237640952T>G | CA345396705 | RYR2 | c.7171T>G (p.Phe2391Val) c.7123T>G (p.Phe2375Val) c.7201T>G (p.Phe2401Val) c.7198T>G (p.Phe2400Val) c.7168T>G (p.Phe2390Val) n.7482T>G c.7180T>G (p.Phe2394Val) n.7515T>G | |
| 1 | g.237640953T>A | CA345396707 | RYR2 | c.7172T>A (p.Phe2391Tyr) c.7124T>A (p.Phe2375Tyr) c.7202T>A (p.Phe2401Tyr) c.7199T>A (p.Phe2400Tyr) c.7169T>A (p.Phe2390Tyr) n.7483T>A c.7181T>A (p.Phe2394Tyr) n.7516T>A | |
| 1 | g.237640953T>C | CA345396708 | RYR2 | c.7172T>C (p.Phe2391Ser) c.7124T>C (p.Phe2375Ser) c.7202T>C (p.Phe2401Ser) c.7199T>C (p.Phe2400Ser) c.7169T>C (p.Phe2390Ser) n.7483T>C c.7181T>C (p.Phe2394Ser) n.7516T>C | |
| 1 | g.237640953T>G | CA345396710 | RYR2 | c.7172T>G (p.Phe2391Cys) c.7124T>G (p.Phe2375Cys) c.7202T>G (p.Phe2401Cys) c.7199T>G (p.Phe2400Cys) c.7169T>G (p.Phe2390Cys) n.7483T>G c.7181T>G (p.Phe2394Cys) n.7516T>G | |
| 1 | g.237640954C>A | CA345396711 | RYR2 | c.7173C>A (p.Phe2391Leu) c.7125C>A (p.Phe2375Leu) c.7203C>A (p.Phe2401Leu) c.7200C>A (p.Phe2400Leu) c.7170C>A (p.Phe2390Leu) n.7484C>A c.7182C>A (p.Phe2394Leu) n.7517C>A | |
| 1 | g.237640954C>G | CA345396712 | RYR2 | c.7173C>G (p.Phe2391Leu) c.7125C>G (p.Phe2375Leu) c.7203C>G (p.Phe2401Leu) c.7200C>G (p.Phe2400Leu) c.7170C>G (p.Phe2390Leu) n.7484C>G c.7182C>G (p.Phe2394Leu) n.7517C>G | |
| 1 | g.237640954C>T | CA423819327 | RYR2 | c.7173C>T (p.Phe2391=) c.7125C>T (p.Phe2375=) c.7203C>T (p.Phe2401=) c.7200C>T (p.Phe2400=) c.7170C>T (p.Phe2390=) n.7484C>T c.7182C>T (p.Phe2394=) n.7517C>T | ClinVar gnomAD v4 |
| 1 | g.237640955T>A | CA345396713 | RYR2 | c.7174T>A (p.Tyr2392Asn) c.7126T>A (p.Tyr2376Asn) c.7204T>A (p.Tyr2402Asn) c.7201T>A (p.Tyr2401Asn) c.7171T>A (p.Tyr2391Asn) n.7485T>A c.7183T>A (p.Tyr2395Asn) n.7518T>A | |
| 1 | g.237640955T>C | CA345396715 | RYR2 | c.7174T>C (p.Tyr2392His) c.7126T>C (p.Tyr2376His) c.7204T>C (p.Tyr2402His) c.7201T>C (p.Tyr2401His) c.7171T>C (p.Tyr2391His) n.7485T>C c.7183T>C (p.Tyr2395His) n.7518T>C | |
| 1 | g.237640955T>G | CA345396717 | RYR2 | c.7174T>G (p.Tyr2392Asp) c.7126T>G (p.Tyr2376Asp) c.7204T>G (p.Tyr2402Asp) c.7201T>G (p.Tyr2401Asp) c.7171T>G (p.Tyr2391Asp) n.7485T>G c.7183T>G (p.Tyr2395Asp) n.7518T>G | |
| 1 | g.237640956A= | CA2487423583 | RYR2 | c.7175A= (p.Tyr2392=) c.7127A= (p.Tyr2376=) c.7205A= (p.Tyr2402=) c.7202A= (p.Tyr2401=) c.7172A= (p.Tyr2391=) n.7486A= c.7184A= (p.Tyr2395=) n.7519A= | |
| 1 | g.237640956A>C | CA345396721 | RYR2 | c.7175A>C (p.Tyr2392Ser) c.7127A>C (p.Tyr2376Ser) c.7205A>C (p.Tyr2402Ser) c.7202A>C (p.Tyr2401Ser) c.7172A>C (p.Tyr2391Ser) n.7486A>C c.7184A>C (p.Tyr2395Ser) n.7519A>C | |
| 1 | g.237640956A>G | CA087314 | RYR2 | c.7175A>G (p.Tyr2392Cys) c.7127A>G (p.Tyr2376Cys) c.7205A>G (p.Tyr2402Cys) c.7202A>G (p.Tyr2401Cys) c.7172A>G (p.Tyr2391Cys) n.7486A>G c.7184A>G (p.Tyr2395Cys) n.7519A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237640956A>T | CA345396719 | RYR2 | c.7175A>T (p.Tyr2392Phe) c.7127A>T (p.Tyr2376Phe) c.7205A>T (p.Tyr2402Phe) c.7202A>T (p.Tyr2401Phe) c.7172A>T (p.Tyr2391Phe) n.7486A>T c.7184A>T (p.Tyr2395Phe) n.7519A>T | |
| 1 | g.237640957T>A | CA345396722 | RYR2 | c.7176T>A (p.Tyr2392Ter) c.7128T>A (p.Tyr2376Ter) c.7206T>A (p.Tyr2402Ter) c.7203T>A (p.Tyr2401Ter) c.7173T>A (p.Tyr2391Ter) n.7487T>A c.7185T>A (p.Tyr2395Ter) n.7520T>A | |
| 1 | g.237640957T>C | CA423819330 | RYR2 | c.7176T>C (p.Tyr2392=) c.7128T>C (p.Tyr2376=) c.7206T>C (p.Tyr2402=) c.7203T>C (p.Tyr2401=) c.7173T>C (p.Tyr2391=) n.7487T>C c.7185T>C (p.Tyr2395=) n.7520T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237640957T>G | CA345396724 | RYR2 | c.7176T>G (p.Tyr2392Ter) c.7128T>G (p.Tyr2376Ter) c.7206T>G (p.Tyr2402Ter) c.7203T>G (p.Tyr2401Ter) c.7173T>G (p.Tyr2391Ter) n.7487T>G c.7185T>G (p.Tyr2395Ter) n.7520T>G | |
| 1 | g.237640957T= | CA2487423584 | RYR2 | c.7176T= (p.Tyr2392=) c.7128T= (p.Tyr2376=) c.7206T= (p.Tyr2402=) c.7203T= (p.Tyr2401=) c.7173T= (p.Tyr2391=) n.7487T= c.7185T= (p.Tyr2395=) n.7520T= | |
| 1 | g.237640958T>A | CA345396725 | RYR2 | c.7177T>A (p.Ser2393Thr) c.7129T>A (p.Ser2377Thr) c.7207T>A (p.Ser2403Thr) c.7204T>A (p.Ser2402Thr) c.7174T>A (p.Ser2392Thr) n.7488T>A c.7186T>A (p.Ser2396Thr) n.7521T>A | |
| 1 | g.237640958T>C | CA345396726 | RYR2 | c.7177T>C (p.Ser2393Pro) c.7129T>C (p.Ser2377Pro) c.7207T>C (p.Ser2403Pro) c.7204T>C (p.Ser2402Pro) c.7174T>C (p.Ser2392Pro) n.7488T>C c.7186T>C (p.Ser2396Pro) n.7521T>C | ClinVar dbSNP |
| 1 | g.237640958T>G | CA345396727 | RYR2 | c.7177T>G (p.Ser2393Ala) c.7129T>G (p.Ser2377Ala) c.7207T>G (p.Ser2403Ala) c.7204T>G (p.Ser2402Ala) c.7174T>G (p.Ser2392Ala) n.7488T>G c.7186T>G (p.Ser2396Ala) n.7521T>G | gnomAD v4 |
| 1 | g.237640958T= | CA2487423585 | RYR2 | c.7177T= (p.Ser2393=) c.7129T= (p.Ser2377=) c.7207T= (p.Ser2403=) c.7204T= (p.Ser2402=) c.7174T= (p.Ser2392=) n.7488T= c.7186T= (p.Ser2396=) n.7521T= | |
| 1 | g.237640959C>A | CA345396729 | RYR2 | c.7178C>A (p.Ser2393Ter) c.7130C>A (p.Ser2377Ter) c.7208C>A (p.Ser2403Ter) c.7205C>A (p.Ser2402Ter) c.7175C>A (p.Ser2392Ter) n.7489C>A c.7187C>A (p.Ser2396Ter) n.7522C>A | |
| 1 | g.237640959C>G | CA075510 | RYR2 | c.7178C>G (p.Ser2393Ter) c.7130C>G (p.Ser2377Ter) c.7208C>G (p.Ser2403Ter) c.7205C>G (p.Ser2402Ter) c.7175C>G (p.Ser2392Ter) n.7489C>G c.7187C>G (p.Ser2396Ter) n.7522C>G | |
| 1 | g.237640959C>T | CA345396731 | RYR2 | c.7178C>T (p.Ser2393Leu) c.7130C>T (p.Ser2377Leu) c.7208C>T (p.Ser2403Leu) c.7205C>T (p.Ser2402Leu) c.7175C>T (p.Ser2392Leu) n.7489C>T c.7187C>T (p.Ser2396Leu) n.7522C>T | |
| 1 | g.237640960A= | CA2487423586 | RYR2 | c.7179A= (p.Ser2393=) c.7131A= (p.Ser2377=) c.7209A= (p.Ser2403=) c.7206A= (p.Ser2402=) c.7176A= (p.Ser2392=) n.7490A= c.7188A= (p.Ser2396=) n.7523A= | |
| 1 | g.237640960A>C | CA423819332 | RYR2 | c.7179A>C (p.Ser2393=) c.7131A>C (p.Ser2377=) c.7209A>C (p.Ser2403=) c.7206A>C (p.Ser2402=) c.7176A>C (p.Ser2392=) n.7490A>C c.7188A>C (p.Ser2396=) n.7523A>C | |
| 1 | g.237640960A>G | CA087315 | RYR2 | c.7179A>G (p.Ser2393=) c.7131A>G (p.Ser2377=) c.7209A>G (p.Ser2403=) c.7206A>G (p.Ser2402=) c.7176A>G (p.Ser2392=) n.7490A>G c.7188A>G (p.Ser2396=) n.7523A>G | dbSNP ExAC gnomAD v2 |
| 1 | g.237640960A>T | CA423819333 | RYR2 | c.7179A>T (p.Ser2393=) c.7131A>T (p.Ser2377=) c.7209A>T (p.Ser2403=) c.7206A>T (p.Ser2402=) c.7176A>T (p.Ser2392=) n.7490A>T c.7188A>T (p.Ser2396=) n.7523A>T | |
| 1 | g.237640961G>A | CA345396732 | RYR2 | c.7180G>A (p.Ala2394Thr) c.7132G>A (p.Ala2378Thr) c.7210G>A (p.Ala2404Thr) c.7207G>A (p.Ala2403Thr) c.7177G>A (p.Ala2393Thr) n.7491G>A c.7189G>A (p.Ala2397Thr) n.7524G>A | |
| 1 | g.237640961G>C | CA345396733 | RYR2 | c.7180G>C (p.Ala2394Pro) c.7132G>C (p.Ala2378Pro) c.7210G>C (p.Ala2404Pro) c.7207G>C (p.Ala2403Pro) c.7177G>C (p.Ala2393Pro) n.7491G>C c.7189G>C (p.Ala2397Pro) n.7524G>C | |
| 1 | g.237640961G>T | CA345396734 | RYR2 | c.7180G>T (p.Ala2394Ser) c.7132G>T (p.Ala2378Ser) c.7210G>T (p.Ala2404Ser) c.7207G>T (p.Ala2403Ser) c.7177G>T (p.Ala2393Ser) n.7491G>T c.7189G>T (p.Ala2397Ser) n.7524G>T | |
| 1 | g.237640962C>A | CA345396737 | RYR2 | c.7181C>A (p.Ala2394Asp) c.7133C>A (p.Ala2378Asp) c.7211C>A (p.Ala2404Asp) c.7208C>A (p.Ala2403Asp) c.7178C>A (p.Ala2393Asp) n.7492C>A c.7190C>A (p.Ala2397Asp) n.7525C>A | |
| 1 | g.237640962C= | CA2487423587 | RYR2 | c.7181C= (p.Ala2394=) c.7133C= (p.Ala2378=) c.7211C= (p.Ala2404=) c.7208C= (p.Ala2403=) c.7178C= (p.Ala2393=) n.7492C= c.7190C= (p.Ala2397=) n.7525C= | |
| 1 | g.237640962C>G | CA345396738 | RYR2 | c.7181C>G (p.Ala2394Gly) c.7133C>G (p.Ala2378Gly) c.7211C>G (p.Ala2404Gly) c.7208C>G (p.Ala2403Gly) c.7178C>G (p.Ala2393Gly) n.7492C>G c.7190C>G (p.Ala2397Gly) n.7525C>G | dbSNP |
| 1 | g.237640962C>T | CA345396739 | RYR2 | c.7181C>T (p.Ala2394Val) c.7133C>T (p.Ala2378Val) c.7211C>T (p.Ala2404Val) c.7208C>T (p.Ala2403Val) c.7178C>T (p.Ala2393Val) n.7492C>T c.7190C>T (p.Ala2397Val) n.7525C>T | |
| 1 | g.237640963T>A | CA423819335 | RYR2 | c.7182T>A (p.Ala2394=) c.7134T>A (p.Ala2378=) c.7212T>A (p.Ala2404=) c.7209T>A (p.Ala2403=) c.7179T>A (p.Ala2393=) n.7493T>A c.7191T>A (p.Ala2397=) n.7526T>A | |
| 1 | g.237640963T>C | CA423819336 | RYR2 | c.7182T>C (p.Ala2394=) c.7134T>C (p.Ala2378=) c.7212T>C (p.Ala2404=) c.7209T>C (p.Ala2403=) c.7179T>C (p.Ala2393=) n.7493T>C c.7191T>C (p.Ala2397=) n.7526T>C | |
| 1 | g.237640963T>G | CA423819337 | RYR2 | c.7182T>G (p.Ala2394=) c.7134T>G (p.Ala2378=) c.7212T>G (p.Ala2404=) c.7209T>G (p.Ala2403=) c.7179T>G (p.Ala2393=) n.7493T>G c.7191T>G (p.Ala2397=) n.7526T>G | |
| 1 | g.237640964T>A | CA087316 | RYR2 | c.7183T>A (p.Leu2395Met) c.7135T>A (p.Leu2379Met) c.7213T>A (p.Leu2405Met) c.7210T>A (p.Leu2404Met) c.7180T>A (p.Leu2394Met) n.7494T>A c.7192T>A (p.Leu2398Met) n.7527T>A | dbSNP ExAC gnomAD v2 |
| 1 | g.237640964T>C | CA423819339 | RYR2 | c.7183T>C (p.Leu2395=) c.7135T>C (p.Leu2379=) c.7213T>C (p.Leu2405=) c.7210T>C (p.Leu2404=) c.7180T>C (p.Leu2394=) n.7494T>C c.7192T>C (p.Leu2398=) n.7527T>C | |
| 1 | g.237640964T>G | CA345396742 | RYR2 | c.7183T>G (p.Leu2395Val) c.7135T>G (p.Leu2379Val) c.7213T>G (p.Leu2405Val) c.7210T>G (p.Leu2404Val) c.7180T>G (p.Leu2394Val) n.7494T>G c.7192T>G (p.Leu2398Val) n.7527T>G | |
| 1 | g.237640964T= | CA1144010841 | RYR2 | c.7183T= (p.Leu2395=) c.7135T= (p.Leu2379=) c.7213T= (p.Leu2405=) c.7210T= (p.Leu2404=) c.7180T= (p.Leu2394=) n.7494T= c.7192T= (p.Leu2398=) n.7527T= | |
| 1 | g.237640965T>A | CA345396744 | RYR2 | c.7184T>A (p.Leu2395Ter) c.7136T>A (p.Leu2379Ter) c.7214T>A (p.Leu2405Ter) c.7211T>A (p.Leu2404Ter) c.7181T>A (p.Leu2394Ter) n.7495T>A c.7193T>A (p.Leu2398Ter) n.7528T>A | |
| 1 | g.237640965T>C | CA345396746 | RYR2 | c.7184T>C (p.Leu2395Ser) c.7136T>C (p.Leu2379Ser) c.7214T>C (p.Leu2405Ser) c.7211T>C (p.Leu2404Ser) c.7181T>C (p.Leu2394Ser) n.7495T>C c.7193T>C (p.Leu2398Ser) n.7528T>C | |
| 1 | g.237640965T>G | CA345396748 | RYR2 | c.7184T>G (p.Leu2395Trp) c.7136T>G (p.Leu2379Trp) c.7214T>G (p.Leu2405Trp) c.7211T>G (p.Leu2404Trp) c.7181T>G (p.Leu2394Trp) n.7495T>G c.7193T>G (p.Leu2398Trp) n.7528T>G | |
| 1 | g.237640966G>A | CA075522 | RYR2 | c.7185G>A (p.Leu2395=) c.7137G>A (p.Leu2379=) c.7215G>A (p.Leu2405=) c.7212G>A (p.Leu2404=) c.7182G>A (p.Leu2394=) n.7496G>A c.7194G>A (p.Leu2398=) n.7529G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237640966G>C | CA345396750 | RYR2 | c.7185G>C (p.Leu2395Phe) c.7137G>C (p.Leu2379Phe) c.7215G>C (p.Leu2405Phe) c.7212G>C (p.Leu2404Phe) c.7182G>C (p.Leu2394Phe) n.7496G>C c.7194G>C (p.Leu2398Phe) n.7529G>C | |
| 1 | g.237640966G= | CA2487423588 | RYR2 | c.7185G= (p.Leu2395=) c.7137G= (p.Leu2379=) c.7215G= (p.Leu2405=) c.7212G= (p.Leu2404=) c.7182G= (p.Leu2394=) n.7496G= c.7194G= (p.Leu2398=) n.7529G= | |
| 1 | g.237640966G>T | CA345396752 | RYR2 | c.7185G>T (p.Leu2395Phe) c.7137G>T (p.Leu2379Phe) c.7215G>T (p.Leu2405Phe) c.7212G>T (p.Leu2404Phe) c.7182G>T (p.Leu2394Phe) n.7496G>T c.7194G>T (p.Leu2398Phe) n.7529G>T | |
| 1 | g.237640967A>C | CA345396753 | RYR2 | c.7186A>C (p.Ile2396Leu) c.7138A>C (p.Ile2380Leu) c.7216A>C (p.Ile2406Leu) c.7213A>C (p.Ile2405Leu) c.7183A>C (p.Ile2395Leu) n.7497A>C c.7195A>C (p.Ile2399Leu) n.7530A>C | |
| 1 | g.237640967A>G | CA345396755 | RYR2 | c.7186A>G (p.Ile2396Val) c.7138A>G (p.Ile2380Val) c.7216A>G (p.Ile2406Val) c.7213A>G (p.Ile2405Val) c.7183A>G (p.Ile2395Val) n.7497A>G c.7195A>G (p.Ile2399Val) n.7530A>G | |
| 1 | g.237640967A>T | CA345396756 | RYR2 | c.7186A>T (p.Ile2396Phe) c.7138A>T (p.Ile2380Phe) c.7216A>T (p.Ile2406Phe) c.7213A>T (p.Ile2405Phe) c.7183A>T (p.Ile2395Phe) n.7497A>T c.7195A>T (p.Ile2399Phe) n.7530A>T | |
| 1 | g.237640968T>A | CA345396759 | RYR2 | c.7187T>A (p.Ile2396Asn) c.7139T>A (p.Ile2380Asn) c.7217T>A (p.Ile2406Asn) c.7214T>A (p.Ile2405Asn) c.7184T>A (p.Ile2395Asn) n.7498T>A c.7196T>A (p.Ile2399Asn) n.7531T>A | |
| 1 | g.237640968T>C | CA345396761 | RYR2 | c.7187T>C (p.Ile2396Thr) c.7139T>C (p.Ile2380Thr) c.7217T>C (p.Ile2406Thr) c.7214T>C (p.Ile2405Thr) c.7184T>C (p.Ile2395Thr) n.7498T>C c.7196T>C (p.Ile2399Thr) n.7531T>C | gnomAD v4 |
| 1 | g.237640968T>G | CA345396762 | RYR2 | c.7187T>G (p.Ile2396Ser) c.7139T>G (p.Ile2380Ser) c.7217T>G (p.Ile2406Ser) c.7214T>G (p.Ile2405Ser) c.7184T>G (p.Ile2395Ser) n.7498T>G c.7196T>G (p.Ile2399Ser) n.7531T>G | dbSNP COSMIC COSMIC |
| 1 | g.237640968T= | CA2487423589 | RYR2 | c.7187T= (p.Ile2396=) c.7139T= (p.Ile2380=) c.7217T= (p.Ile2406=) c.7214T= (p.Ile2405=) c.7184T= (p.Ile2395=) n.7498T= c.7196T= (p.Ile2399=) n.7531T= | |
| 1 | g.237640969T>A | CA423819343 | RYR2 | c.7188T>A (p.Ile2396=) c.7140T>A (p.Ile2380=) c.7218T>A (p.Ile2406=) c.7215T>A (p.Ile2405=) c.7185T>A (p.Ile2395=) n.7499T>A c.7197T>A (p.Ile2399=) n.7532T>A | |
| 1 | g.237640969T>C | CA423819344 | RYR2 | c.7188T>C (p.Ile2396=) c.7140T>C (p.Ile2380=) c.7218T>C (p.Ile2406=) c.7215T>C (p.Ile2405=) c.7185T>C (p.Ile2395=) n.7499T>C c.7197T>C (p.Ile2399=) n.7532T>C | |
| 1 | g.237640969T>G | CA345396763 | RYR2 | c.7188T>G (p.Ile2396Met) c.7140T>G (p.Ile2380Met) c.7218T>G (p.Ile2406Met) c.7215T>G (p.Ile2405Met) c.7185T>G (p.Ile2395Met) n.7499T>G c.7197T>G (p.Ile2399Met) n.7532T>G | |
| 1 | g.237640970G>A | CA345396764 | RYR2 | c.7189G>A (p.Asp2397Asn) c.7141G>A (p.Asp2381Asn) c.7219G>A (p.Asp2407Asn) c.7216G>A (p.Asp2406Asn) c.7186G>A (p.Asp2396Asn) n.7500G>A c.7198G>A (p.Asp2400Asn) n.7533G>A | |
| 1 | g.237640970G>C | CA345396765 | RYR2 | c.7189G>C (p.Asp2397His) c.7141G>C (p.Asp2381His) c.7219G>C (p.Asp2407His) c.7216G>C (p.Asp2406His) c.7186G>C (p.Asp2396His) n.7500G>C c.7198G>C (p.Asp2400His) n.7533G>C | |
| 1 | g.237640970G= | CA2487423590 | RYR2 | c.7189G= (p.Asp2397=) c.7141G= (p.Asp2381=) c.7219G= (p.Asp2407=) c.7216G= (p.Asp2406=) c.7186G= (p.Asp2396=) n.7500G= c.7198G= (p.Asp2400=) n.7533G= | |
| 1 | g.237640970G>T | CA010599 | RYR2 | c.7189G>T (p.Asp2397Tyr) c.7141G>T (p.Asp2381Tyr) c.7219G>T (p.Asp2407Tyr) c.7216G>T (p.Asp2406Tyr) c.7186G>T (p.Asp2396Tyr) n.7500G>T c.7198G>T (p.Asp2400Tyr) n.7533G>T | ClinVar dbSNP |
| 1 | g.237640971A>C | CA345396766 | RYR2 | c.7190A>C (p.Asp2397Ala) c.7142A>C (p.Asp2381Ala) c.7220A>C (p.Asp2407Ala) c.7217A>C (p.Asp2406Ala) c.7187A>C (p.Asp2396Ala) n.7501A>C c.7199A>C (p.Asp2400Ala) n.7534A>C | COSMIC COSMIC |
| 1 | g.237640971A>G | CA345396767 | RYR2 | c.7190A>G (p.Asp2397Gly) c.7142A>G (p.Asp2381Gly) c.7220A>G (p.Asp2407Gly) c.7217A>G (p.Asp2406Gly) c.7187A>G (p.Asp2396Gly) n.7501A>G c.7199A>G (p.Asp2400Gly) n.7534A>G | |
| 1 | g.237640971A>T | CA345396768 | RYR2 | c.7190A>T (p.Asp2397Val) c.7142A>T (p.Asp2381Val) c.7220A>T (p.Asp2407Val) c.7217A>T (p.Asp2406Val) c.7187A>T (p.Asp2396Val) n.7501A>T c.7199A>T (p.Asp2400Val) n.7534A>T | |
| 1 | g.237640972C>A | CA345396769 | RYR2 | c.7191C>A (p.Asp2397Glu) c.7143C>A (p.Asp2381Glu) c.7221C>A (p.Asp2407Glu) c.7218C>A (p.Asp2406Glu) c.7188C>A (p.Asp2396Glu) n.7502C>A c.7200C>A (p.Asp2400Glu) n.7535C>A | |
| 1 | g.237640972C= | CA2487423591 | RYR2 | c.7191C= (p.Asp2397=) c.7143C= (p.Asp2381=) c.7221C= (p.Asp2407=) c.7218C= (p.Asp2406=) c.7188C= (p.Asp2396=) n.7502C= c.7200C= (p.Asp2400=) n.7535C= | |
| 1 | g.237640972C>G | CA345396770 | RYR2 | c.7191C>G (p.Asp2397Glu) c.7143C>G (p.Asp2381Glu) c.7221C>G (p.Asp2407Glu) c.7218C>G (p.Asp2406Glu) c.7188C>G (p.Asp2396Glu) n.7502C>G c.7200C>G (p.Asp2400Glu) n.7535C>G | |
| 1 | g.237640972C>T | CA075524 | RYR2 | c.7191C>T (p.Asp2397=) c.7143C>T (p.Asp2381=) c.7221C>T (p.Asp2407=) c.7218C>T (p.Asp2406=) c.7188C>T (p.Asp2396=) n.7502C>T c.7200C>T (p.Asp2400=) n.7535C>T | dbSNP gnomAD v4 |
| 1 | g.237640973C>A | CA345396771 | RYR2 | c.7192C>A (p.Leu2398Ile) c.7144C>A (p.Leu2382Ile) c.7222C>A (p.Leu2408Ile) c.7219C>A (p.Leu2407Ile) c.7189C>A (p.Leu2397Ile) n.7503C>A c.7201C>A (p.Leu2401Ile) n.7536C>A | |
| 1 | g.237640973C>G | CA345396772 | RYR2 | c.7192C>G (p.Leu2398Val) c.7144C>G (p.Leu2382Val) c.7222C>G (p.Leu2408Val) c.7219C>G (p.Leu2407Val) c.7189C>G (p.Leu2397Val) n.7503C>G c.7201C>G (p.Leu2401Val) n.7536C>G | |
| 1 | g.237640973C>T | CA345396773 | RYR2 | c.7192C>T (p.Leu2398Phe) c.7144C>T (p.Leu2382Phe) c.7222C>T (p.Leu2408Phe) c.7219C>T (p.Leu2407Phe) c.7189C>T (p.Leu2397Phe) n.7503C>T c.7201C>T (p.Leu2401Phe) n.7536C>T | gnomAD v4 |
| 1 | g.237640974T>A | CA345396774 | RYR2 | c.7193T>A (p.Leu2398His) c.7145T>A (p.Leu2382His) c.7223T>A (p.Leu2408His) c.7220T>A (p.Leu2407His) c.7190T>A (p.Leu2397His) n.7504T>A c.7202T>A (p.Leu2401His) n.7537T>A | |
| 1 | g.237640974T>C | CA345396775 | RYR2 | c.7193T>C (p.Leu2398Pro) c.7145T>C (p.Leu2382Pro) c.7223T>C (p.Leu2408Pro) c.7220T>C (p.Leu2407Pro) c.7190T>C (p.Leu2397Pro) n.7504T>C c.7202T>C (p.Leu2401Pro) n.7537T>C | COSMIC COSMIC |
| 1 | g.237640974T>G | CA345396776 | RYR2 | c.7193T>G (p.Leu2398Arg) c.7145T>G (p.Leu2382Arg) c.7223T>G (p.Leu2408Arg) c.7220T>G (p.Leu2407Arg) c.7190T>G (p.Leu2397Arg) n.7504T>G c.7202T>G (p.Leu2401Arg) n.7537T>G | |
| 1 | g.237640975C>A | CA423819351 | RYR2 | c.7194C>A (p.Leu2398=) c.7146C>A (p.Leu2382=) c.7224C>A (p.Leu2408=) c.7221C>A (p.Leu2407=) c.7191C>A (p.Leu2397=) n.7505C>A c.7203C>A (p.Leu2401=) n.7538C>A | |
| 1 | g.237640975C= | CA1143537426 | RYR2 | c.7194C= (p.Leu2398=) c.7146C= (p.Leu2382=) c.7224C= (p.Leu2408=) c.7221C= (p.Leu2407=) c.7191C= (p.Leu2397=) n.7505C= c.7203C= (p.Leu2401=) n.7538C= | |
| 1 | g.237640975C>G | CA423819352 | RYR2 | c.7194C>G (p.Leu2398=) c.7146C>G (p.Leu2382=) c.7224C>G (p.Leu2408=) c.7221C>G (p.Leu2407=) c.7191C>G (p.Leu2397=) n.7505C>G c.7203C>G (p.Leu2401=) n.7538C>G | dbSNP |
| 1 | g.237640975C>T | CA39789580 | RYR2 | c.7194C>T (p.Leu2398=) c.7146C>T (p.Leu2382=) c.7224C>T (p.Leu2408=) c.7221C>T (p.Leu2407=) c.7191C>T (p.Leu2397=) n.7505C>T c.7203C>T (p.Leu2401=) n.7538C>T | dbSNP |
| 1 | g.237640976T>A | CA345396778 | RYR2 | c.7195T>A (p.Leu2399Met) c.7147T>A (p.Leu2383Met) c.7225T>A (p.Leu2409Met) c.7222T>A (p.Leu2408Met) c.7192T>A (p.Leu2398Met) n.7506T>A c.7204T>A (p.Leu2402Met) n.7539T>A | |
| 1 | g.237640976T>C | CA423819354 | RYR2 | c.7195T>C (p.Leu2399=) c.7147T>C (p.Leu2383=) c.7225T>C (p.Leu2409=) c.7222T>C (p.Leu2408=) c.7192T>C (p.Leu2398=) n.7506T>C c.7204T>C (p.Leu2402=) n.7539T>C | |
| 1 | g.237640976T>G | CA345396777 | RYR2 | c.7195T>G (p.Leu2399Val) c.7147T>G (p.Leu2383Val) c.7225T>G (p.Leu2409Val) c.7222T>G (p.Leu2408Val) c.7192T>G (p.Leu2398Val) n.7506T>G c.7204T>G (p.Leu2402Val) n.7539T>G | ClinVar dbSNP |
| 1 | g.237640976T= | CA2487423592 | RYR2 | c.7195T= (p.Leu2399=) c.7147T= (p.Leu2383=) c.7225T= (p.Leu2409=) c.7222T= (p.Leu2408=) c.7192T= (p.Leu2398=) n.7506T= c.7204T= (p.Leu2402=) n.7539T= | |
| 1 | g.237640977T>A | CA345396779 | RYR2 | c.7196T>A (p.Leu2399Ter) c.7148T>A (p.Leu2383Ter) c.7226T>A (p.Leu2409Ter) c.7223T>A (p.Leu2408Ter) c.7193T>A (p.Leu2398Ter) n.7507T>A c.7205T>A (p.Leu2402Ter) n.7540T>A | ClinVar dbSNP |
| 1 | g.237640977T>C | CA345396780 | RYR2 | c.7196T>C (p.Leu2399Ser) c.7148T>C (p.Leu2383Ser) c.7226T>C (p.Leu2409Ser) c.7223T>C (p.Leu2408Ser) c.7193T>C (p.Leu2398Ser) n.7507T>C c.7205T>C (p.Leu2402Ser) n.7540T>C | |
| 1 | g.237640977T>G | CA345396781 | RYR2 | c.7196T>G (p.Leu2399Trp) c.7148T>G (p.Leu2383Trp) c.7226T>G (p.Leu2409Trp) c.7223T>G (p.Leu2408Trp) c.7193T>G (p.Leu2398Trp) n.7507T>G c.7205T>G (p.Leu2402Trp) n.7540T>G | |
| 1 | g.237640977T= | CA2487423593 | RYR2 | c.7196T= (p.Leu2399=) c.7148T= (p.Leu2383=) c.7226T= (p.Leu2409=) c.7223T= (p.Leu2408=) c.7193T= (p.Leu2398=) n.7507T= c.7205T= (p.Leu2402=) n.7540T= | |
| 1 | g.237640978G>A | CA423819357 | RYR2 | c.7197G>A (p.Leu2399=) c.7149G>A (p.Leu2383=) c.7227G>A (p.Leu2409=) c.7224G>A (p.Leu2408=) c.7194G>A (p.Leu2398=) n.7508G>A c.7206G>A (p.Leu2402=) n.7541G>A | gnomAD v4 |
| 1 | g.237640978G>C | CA345396782 | RYR2 | c.7197G>C (p.Leu2399Phe) c.7149G>C (p.Leu2383Phe) c.7227G>C (p.Leu2409Phe) c.7224G>C (p.Leu2408Phe) c.7194G>C (p.Leu2398Phe) n.7508G>C c.7206G>C (p.Leu2402Phe) n.7541G>C | gnomAD v4 |
| 1 | g.237640978G>T | CA345396783 | RYR2 | c.7197G>T (p.Leu2399Phe) c.7149G>T (p.Leu2383Phe) c.7227G>T (p.Leu2409Phe) c.7224G>T (p.Leu2408Phe) c.7194G>T (p.Leu2398Phe) n.7508G>T c.7206G>T (p.Leu2402Phe) n.7541G>T | |
| 1 | g.237640979G>A | CA345396784 | RYR2 | c.7198G>A (p.Gly2400Arg) c.7150G>A (p.Gly2384Arg) c.7228G>A (p.Gly2410Arg) c.7225G>A (p.Gly2409Arg) c.7195G>A (p.Gly2399Arg) n.7509G>A c.7207G>A (p.Gly2403Arg) n.7542G>A | |
| 1 | g.237640979G>C | CA345396785 | RYR2 | c.7198G>C (p.Gly2400Arg) c.7150G>C (p.Gly2384Arg) c.7228G>C (p.Gly2410Arg) c.7225G>C (p.Gly2409Arg) c.7195G>C (p.Gly2399Arg) n.7509G>C c.7207G>C (p.Gly2403Arg) n.7542G>C | |
| 1 | g.237640979G>T | CA345396786 | RYR2 | c.7198G>T (p.Gly2400Ter) c.7150G>T (p.Gly2384Ter) c.7228G>T (p.Gly2410Ter) c.7225G>T (p.Gly2409Ter) c.7195G>T (p.Gly2399Ter) n.7509G>T c.7207G>T (p.Gly2403Ter) n.7542G>T | |
| 1 | g.237640980G>A | CA345396787 | RYR2 | c.7199G>A (p.Gly2400Glu) c.7151G>A (p.Gly2384Glu) c.7229G>A (p.Gly2410Glu) c.7226G>A (p.Gly2409Glu) c.7196G>A (p.Gly2399Glu) n.7510G>A c.7208G>A (p.Gly2403Glu) n.7543G>A | ClinVar dbSNP |
| 1 | g.237640980G>C | CA345396788 | RYR2 | c.7199G>C (p.Gly2400Ala) c.7151G>C (p.Gly2384Ala) c.7229G>C (p.Gly2410Ala) c.7226G>C (p.Gly2409Ala) c.7196G>C (p.Gly2399Ala) n.7510G>C c.7208G>C (p.Gly2403Ala) n.7543G>C | |
| 1 | g.237640980G= | CA2487423594 | RYR2 | c.7199G= (p.Gly2400=) c.7151G= (p.Gly2384=) c.7229G= (p.Gly2410=) c.7226G= (p.Gly2409=) c.7196G= (p.Gly2399=) n.7510G= c.7208G= (p.Gly2403=) n.7543G= | |
| 1 | g.237640980G>T | CA345396789 | RYR2 | c.7199G>T (p.Gly2400Val) c.7151G>T (p.Gly2384Val) c.7229G>T (p.Gly2410Val) c.7226G>T (p.Gly2409Val) c.7196G>T (p.Gly2399Val) n.7510G>T c.7208G>T (p.Gly2403Val) n.7543G>T | COSMIC |
| 1 | g.237640981A= | CA2487423595 | RYR2 | c.7200A= (p.Gly2400=) c.7152A= (p.Gly2384=) c.7230A= (p.Gly2410=) c.7227A= (p.Gly2409=) c.7197A= (p.Gly2399=) n.7511A= c.7209A= (p.Gly2403=) n.7544A= | |
| 1 | g.237640981A>C | CA423819360 | RYR2 | c.7200A>C (p.Gly2400=) c.7152A>C (p.Gly2384=) c.7230A>C (p.Gly2410=) c.7227A>C (p.Gly2409=) c.7197A>C (p.Gly2399=) n.7511A>C c.7209A>C (p.Gly2403=) n.7544A>C | |
| 1 | g.237640981A>G | CA423819361 | RYR2 | c.7200A>G (p.Gly2400=) c.7152A>G (p.Gly2384=) c.7230A>G (p.Gly2410=) c.7227A>G (p.Gly2409=) c.7197A>G (p.Gly2399=) n.7511A>G c.7209A>G (p.Gly2403=) n.7544A>G | |
| 1 | g.237640981A>T | CA075570 | RYR2 | c.7200A>T (p.Gly2400=) c.7152A>T (p.Gly2384=) c.7230A>T (p.Gly2410=) c.7227A>T (p.Gly2409=) c.7197A>T (p.Gly2399=) n.7511A>T c.7209A>T (p.Gly2403=) n.7544A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237640982C>A | CA345396792 | RYR2 | c.7201C>A (p.Arg2401Ser) c.7153C>A (p.Arg2385Ser) c.7231C>A (p.Arg2411Ser) c.7228C>A (p.Arg2410Ser) c.7198C>A (p.Arg2400Ser) n.7512C>A c.7210C>A (p.Arg2404Ser) n.7545C>A | gnomAD v4 |
| 1 | g.237640982C= | CA2487423596 | RYR2 | c.7201C= (p.Arg2401=) c.7153C= (p.Arg2385=) c.7231C= (p.Arg2411=) c.7228C= (p.Arg2410=) c.7198C= (p.Arg2400=) n.7512C= c.7210C= (p.Arg2404=) n.7545C= | |
| 1 | g.237640982C>G | CA345396791 | RYR2 | c.7201C>G (p.Arg2401Gly) c.7153C>G (p.Arg2385Gly) c.7231C>G (p.Arg2411Gly) c.7228C>G (p.Arg2410Gly) c.7198C>G (p.Arg2400Gly) n.7512C>G c.7210C>G (p.Arg2404Gly) n.7545C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237640982C>T | CA345396790 | RYR2 | c.7201C>T (p.Arg2401Cys) c.7153C>T (p.Arg2385Cys) c.7231C>T (p.Arg2411Cys) c.7228C>T (p.Arg2410Cys) c.7198C>T (p.Arg2400Cys) n.7512C>T c.7210C>T (p.Arg2404Cys) n.7545C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237640983G>A | CA010625 | RYR2 | c.7202G>A (p.Arg2401His) c.7154G>A (p.Arg2385His) c.7232G>A (p.Arg2411His) c.7229G>A (p.Arg2410His) c.7199G>A (p.Arg2400His) n.7513G>A c.7211G>A (p.Arg2404His) n.7546G>A | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237640983G>C | CA345396793 | RYR2 | c.7202G>C (p.Arg2401Pro) c.7154G>C (p.Arg2385Pro) c.7232G>C (p.Arg2411Pro) c.7229G>C (p.Arg2410Pro) c.7199G>C (p.Arg2400Pro) n.7513G>C c.7211G>C (p.Arg2404Pro) n.7546G>C | dbSNP |
| 1 | g.237640983G= | CA2487423597 | RYR2 | c.7202G= (p.Arg2401=) c.7154G= (p.Arg2385=) c.7232G= (p.Arg2411=) c.7229G= (p.Arg2410=) c.7199G= (p.Arg2400=) n.7513G= c.7211G= (p.Arg2404=) n.7546G= | |
| 1 | g.237640983G>T | CA010635 | RYR2 | c.7202G>T (p.Arg2401Leu) c.7154G>T (p.Arg2385Leu) c.7232G>T (p.Arg2411Leu) c.7229G>T (p.Arg2410Leu) c.7199G>T (p.Arg2400Leu) n.7513G>T c.7211G>T (p.Arg2404Leu) n.7546G>T | ClinVar dbSNP |