Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499702_38499714delCA2576771077RYR1c.7095_7107del (p.Pro2366ValfsTer?)
c.7092_7104del (p.Pro2365ValfsTer?)
c.547_559del
n.7178_7190del
19g.38499702_38499709delCA2584900036RYR1c.7095_7102del (p.Pro2366AlafsTer3)
c.7092_7099del (p.Pro2365AlafsTer3)
c.547_554del
n.7178_7185del
 gnomAD v4
19g.38499708C>ACA082328RYR1c.7101C>A (p.Ala2367=)
c.7098C>A (p.Ala2366=)
c.553C>A
n.7184C>A
19g.38499708C=CA2335052890RYR1c.7101C= (p.Ala2367=)
c.7098C= (p.Ala2366=)
c.553C=
n.7184C=
19g.38499708C>GCA507353853RYR1c.7101C>G (p.Ala2367=)
c.7098C>G (p.Ala2366=)
c.553C>G
n.7184C>G
19g.38499708C>TCA082329RYR1c.7101C>T (p.Ala2367=)
c.7098C>T (p.Ala2366=)
c.553C>T
n.7184C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38499709C>ACA405668055RYR1c.7102C>A (p.Leu2368Met)
c.7099C>A (p.Leu2367Met)
c.554C>A
n.7185C>A
 gnomAD v4
19g.38499709C=CA2335052891RYR1c.7102C= (p.Leu2368=)
c.7099C= (p.Leu2367=)
c.554C=
n.7185C=
19g.38499709C>GCA069148RYR1c.7102C>G (p.Leu2368Val)
c.7099C>G (p.Leu2367Val)
c.554C>G
n.7185C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499709C>TCA024715RYR1c.7102C>T (p.Leu2368=)
c.7099C>T (p.Leu2367=)
c.554C>T
n.7185C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499710T>ACA405668067RYR1c.7103T>A (p.Leu2368Gln)
c.7100T>A (p.Leu2367Gln)
c.555T>A
n.7186T>A
19g.38499710T>CCA405668074RYR1c.7103T>C (p.Leu2368Pro)
c.7100T>C (p.Leu2367Pro)
c.555T>C
n.7186T>C
 dbSNP
19g.38499710T>GCA405668073RYR1c.7103T>G (p.Leu2368Arg)
c.7100T>G (p.Leu2367Arg)
c.555T>G
n.7186T>G
19g.38499710T=CA2335052892RYR1c.7103T= (p.Leu2368=)
c.7100T= (p.Leu2367=)
c.555T=
n.7186T=
19g.38499711G>ACA507353854RYR1c.7104G>A (p.Leu2368=)
c.7101G>A (p.Leu2367=)
c.556G>A
n.7187G>A
 gnomAD v4
19g.38499711G>CCA507353855RYR1c.7104G>C (p.Leu2368=)
c.7101G>C (p.Leu2367=)
c.556G>C
n.7187G>C
19g.38499711G>TCA507353856RYR1c.7104G>T (p.Leu2368=)
c.7101G>T (p.Leu2367=)
c.556G>T
n.7187G>T
 gnomAD v4
19g.38499712_38499721delCA995715538RYR1c.7105_7114del (p.Arg2369ValfsTer?)
c.7102_7111del (p.Arg2368ValfsTer?)
c.557_566del
n.7188_7197del
 gnomAD v3 gnomAD v4
19g.38499712C>ACA069152RYR1c.7105C>A (p.Arg2369=)
c.7102C>A (p.Arg2368=)
c.557C>A
n.7188C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499712C=CA2335052893RYR1c.7105C= (p.Arg2369=)
c.7102C= (p.Arg2368=)
c.557C=
n.7188C=
19g.38499712C>GCA082332RYR1c.7105C>G (p.Arg2369Gly)
c.7102C>G (p.Arg2368Gly)
c.557C>G
n.7188C>G
 gnomAD v4
19g.38499712C>TCA405668091RYR1c.7105C>T (p.Arg2369Trp)
c.7102C>T (p.Arg2368Trp)
c.557C>T
n.7188C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38499713G>ACA069158RYR1c.7106G>A (p.Arg2369Gln)
c.7103G>A (p.Arg2368Gln)
c.558G>A
n.7189G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499713G>CCA405668104RYR1c.7106G>C (p.Arg2369Pro)
c.7103G>C (p.Arg2368Pro)
c.558G>C
n.7189G>C
19g.38499713G=CA2335052894RYR1c.7106G= (p.Arg2369=)
c.7103G= (p.Arg2368=)
c.558G=
n.7189G=
19g.38499713G>TCA405668100RYR1c.7106G>T (p.Arg2369Leu)
c.7103G>T (p.Arg2368Leu)
c.558G>T
n.7189G>T
 dbSNP gnomAD v4
19g.38499716delCA2584900037RYR1c.7109del (p.Gly2370ValfsTer?)
c.7106del (p.Gly2369ValfsTer?)
c.561del
n.7192del
 gnomAD v4
19g.38499714G>ACA507353857RYR1c.7107G>A (p.Arg2369=)
c.7104G>A (p.Arg2368=)
c.559G>A
n.7190G>A
 ClinVar dbSNP gnomAD v4
19g.38499714G>CCA507353858RYR1c.7107G>C (p.Arg2369=)
c.7104G>C (p.Arg2368=)
c.559G>C
n.7190G>C
19g.38499714G>TCA507353859RYR1c.7107G>T (p.Arg2369=)
c.7104G>T (p.Arg2368=)
c.559G>T
n.7190G>T
 gnomAD v4
19g.38499715G>ACA308109549RYR1c.7108G>A (p.Gly2370Ser)
c.7105G>A (p.Gly2369Ser)
c.560G>A
n.7191G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499715G>CCA405668121RYR1c.7108G>C (p.Gly2370Arg)
c.7105G>C (p.Gly2369Arg)
c.560G>C
n.7191G>C
19g.38499715G=CA2335052895RYR1c.7108G= (p.Gly2370=)
c.7105G= (p.Gly2369=)
c.560G=
n.7191G=
19g.38499715G>TCA405668126RYR1c.7108G>T (p.Gly2370Cys)
c.7105G>T (p.Gly2369Cys)
c.560G>T
n.7191G>T
 gnomAD v4
19g.38499716G>ACA082334RYR1c.7109G>A (p.Gly2370Asp)
c.7106G>A (p.Gly2369Asp)
c.561G>A
n.7192G>A
 gnomAD v4
19g.38499716G>CCA405668129RYR1c.7109G>C (p.Gly2370Ala)
c.7106G>C (p.Gly2369Ala)
c.561G>C
n.7192G>C
19g.38499716G=CA2335052896RYR1c.7109G= (p.Gly2370=)
c.7106G= (p.Gly2369=)
c.561G=
n.7192G=
19g.38499716G>TCA405668130RYR1c.7109G>T (p.Gly2370Val)
c.7106G>T (p.Gly2369Val)
c.561G>T
n.7192G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499717T>ACA507353860RYR1c.7110T>A (p.Gly2370=)
c.7107T>A (p.Gly2369=)
c.562T>A
n.7193T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499717T>CCA507353861RYR1c.7110T>C (p.Gly2370=)
c.7107T>C (p.Gly2369=)
c.562T>C
n.7193T>C
 gnomAD v4
19g.38499717T>GCA507353862RYR1c.7110T>G (p.Gly2370=)
c.7107T>G (p.Gly2369=)
c.562T>G
n.7193T>G
19g.38499717T=CA2335052897RYR1c.7110T= (p.Gly2370=)
c.7107T= (p.Gly2369=)
c.562T=
n.7193T=
19g.38499718G>ACA16043555RYR1c.7111G>A (p.Glu2371Lys)
c.7108G>A (p.Glu2370Lys)
c.563G>A
n.7194G>A
 ClinVar dbSNP
19g.38499718G>CCA405668151RYR1c.7111G>C (p.Glu2371Gln)
c.7108G>C (p.Glu2370Gln)
c.563G>C
n.7194G>C
19g.38499718G=CA2335052898RYR1c.7111G= (p.Glu2371=)
c.7108G= (p.Glu2370=)
c.563G=
n.7194G=
19g.38499718G>TCA405668153RYR1c.7111G>T (p.Glu2371Ter)
c.7108G>T (p.Glu2370Ter)
c.563G>T
n.7194G>T
 gnomAD v4
19g.38499719A>CCA405668162RYR1c.7112A>C (p.Glu2371Ala)
c.7109A>C (p.Glu2370Ala)
c.564A>C
n.7195A>C
19g.38499719A>GCA405668159RYR1c.7112A>G (p.Glu2371Gly)
c.7109A>G (p.Glu2370Gly)
c.564A>G
n.7195A>G
 ClinVar dbSNP gnomAD v4
19g.38499719A>TCA405668158RYR1c.7112A>T (p.Glu2371Val)
c.7109A>T (p.Glu2370Val)
c.564A>T
n.7195A>T
19g.38499720G>ACA507353863RYR1c.7113G>A (p.Glu2371=)
c.7110G>A (p.Glu2370=)
c.565G>A
n.7196G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499720G>CCA405668165RYR1c.7113G>C (p.Glu2371Asp)
c.7110G>C (p.Glu2370Asp)
c.565G>C
n.7196G>C
19g.38499720G=CA2335052899RYR1c.7113G= (p.Glu2371=)
c.7110G= (p.Glu2370=)
c.565G=
n.7196G=
19g.38499720G>TCA405668168RYR1c.7113G>T (p.Glu2371Asp)
c.7110G>T (p.Glu2370Asp)
c.565G>T
n.7196G>T
 gnomAD v4
19g.38499721G>ACA405668170RYR1c.7114G>A (p.Gly2372Ser)
c.7111G>A (p.Gly2371Ser)
c.566G>A
n.7197G>A
 dbSNP
19g.38499721G>CCA405668172RYR1c.7114G>C (p.Gly2372Arg)
c.7111G>C (p.Gly2371Arg)
c.566G>C
n.7197G>C
 ClinVar dbSNP
19g.38499721G=CA2335052900RYR1c.7114G= (p.Gly2372=)
c.7111G= (p.Gly2371=)
c.566G=
n.7197G=
19g.38499721G>TCA405668174RYR1c.7114G>T (p.Gly2372Cys)
c.7111G>T (p.Gly2371Cys)
c.566G>T
n.7197G>T
 gnomAD v4
19g.38499722G>ACA405668178RYR1c.7115G>A (p.Gly2372Asp)
c.7112G>A (p.Gly2371Asp)
c.567G>A
n.7198G>A
19g.38499722G>CCA069161RYR1c.7115G>C (p.Gly2372Ala)
c.7112G>C (p.Gly2371Ala)
c.567G>C
n.7198G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499722G=CA2335052901RYR1c.7115G= (p.Gly2372=)
c.7112G= (p.Gly2371=)
c.567G=
n.7198G=
19g.38499722G>TCA405668181RYR1c.7115G>T (p.Gly2372Val)
c.7112G>T (p.Gly2371Val)
c.567G>T
n.7198G>T
 gnomAD v4
19g.38499723T>ACA507353864RYR1c.7116T>A (p.Gly2372=)
c.7113T>A (p.Gly2371=)
c.568T>A
n.7199T>A
19g.38499723T>CCA507353865RYR1c.7116T>C (p.Gly2372=)
c.7113T>C (p.Gly2371=)
c.568T>C
n.7199T>C
19g.38499723T>GCA507353866RYR1c.7116T>G (p.Gly2372=)
c.7113T>G (p.Gly2371=)
c.568T>G
n.7199T>G
19g.38499724G>ACA405668188RYR1c.7117G>A (p.Gly2373Ser)
c.7114G>A (p.Gly2372Ser)
c.569G>A
n.7200G>A
 ClinVar dbSNP gnomAD v2
19g.38499724G>CCA405668189RYR1c.7117G>C (p.Gly2373Arg)
c.7114G>C (p.Gly2372Arg)
c.569G>C
n.7200G>C
 gnomAD v3 gnomAD v4
19g.38499724G=CA2335052902RYR1c.7117G= (p.Gly2373=)
c.7114G= (p.Gly2372=)
c.569G=
n.7200G=
19g.38499724G>TCA405668192RYR1c.7117G>T (p.Gly2373Cys)
c.7114G>T (p.Gly2372Cys)
c.569G>T
n.7200G>T
 gnomAD v4
19g.38499725G>ACA405668211RYR1c.7118G>A (p.Gly2373Asp)
c.7115G>A (p.Gly2372Asp)
c.570G>A
n.7201G>A
 gnomAD v4
19g.38499725G>CCA082335RYR1c.7118G>C (p.Gly2373Ala)
c.7115G>C (p.Gly2372Ala)
c.570G>C
n.7201G>C
19g.38499725G>TCA405668197RYR1c.7118G>T (p.Gly2373Val)
c.7115G>T (p.Gly2372Val)
c.570G>T
n.7201G>T
 gnomAD v4
19g.38499726C>ACA507353867RYR1c.7119C>A (p.Gly2373=)
c.7116C>A (p.Gly2372=)
c.571C>A
n.7202C>A
19g.38499726C>GCA507353868RYR1c.7119C>G (p.Gly2373=)
c.7116C>G (p.Gly2372=)
c.571C>G
n.7202C>G
19g.38499726C>TCA507353869RYR1c.7119C>T (p.Gly2373=)
c.7116C>T (p.Gly2372=)
c.571C>T
n.7202C>T
 gnomAD v4
19g.38499726_38499727insCGCA2584900038RYR1c.7119_7120insCG (p.Ser2374ArgfsTer?)
c.7116_7117insCG (p.Ser2373ArgfsTer?)
c.571_572insCG
n.7202_7203insCG
 gnomAD v4
19g.38499727T>ACA405668216RYR1c.7120T>A (p.Ser2374Thr)
c.7117T>A (p.Ser2373Thr)
c.572T>A
n.7203T>A
19g.38499727T>CCA405668220RYR1c.7120T>C (p.Ser2374Pro)
c.7117T>C (p.Ser2373Pro)
c.572T>C
n.7203T>C
19g.38499727T>GCA405668228RYR1c.7120T>G (p.Ser2374Ala)
c.7117T>G (p.Ser2373Ala)
c.572T>G
n.7203T>G
19g.38499727_38499728insATCATTAAAAAACA2584900039RYR1c.7120_7121insATCATTAAAAAA (p.Ser2374TyrfsTer3)
c.7117_7118insATCATTAAAAAA (p.Ser2373TyrfsTer3)
c.572_573insATCATTAAAAAA
n.7203_7204insATCATTAAAAAA
 gnomAD v4
19g.38499728C>ACA405668234RYR1c.7121C>A (p.Ser2374Ter)
c.7118C>A (p.Ser2373Ter)
c.573C>A
n.7204C>A
19g.38499728C=CA2335052903RYR1c.7121C= (p.Ser2374=)
c.7118C= (p.Ser2373=)
c.573C=
n.7204C=
19g.38499728C>GCA405668236RYR1c.7121C>G (p.Ser2374Ter)
c.7118C>G (p.Ser2373Ter)
c.573C>G
n.7204C>G
 gnomAD v4 COSMIC
19g.38499728C>TCA405668238RYR1c.7121C>T (p.Ser2374Leu)
c.7118C>T (p.Ser2373Leu)
c.573C>T
n.7204C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499729A=CA2335052905RYR1c.7122A= (p.Ser2374=)
c.7119A= (p.Ser2373=)
c.574A=
n.7205A=
19g.38499729A>CCA507353870RYR1c.7122A>C (p.Ser2374=)
c.7119A>C (p.Ser2373=)
c.574A>C
n.7205A>C
19g.38499729A>GCA507353871RYR1c.7122A>G (p.Ser2374=)
c.7119A>G (p.Ser2373=)
c.574A>G
n.7205A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499729A>TCA507353872RYR1c.7122A>T (p.Ser2374=)
c.7119A>T (p.Ser2373=)
c.574A>T
n.7205A>T
19g.38499729_38499730delinsAGCA2335052904RYR1c.7122_7123delinsAG (p.Ser2374=)
c.7119_7120delinsAG (p.Ser2373=)
c.574_575delinsAG
n.7205_7206delinsAG
19g.38499730G>ACA405668242RYR1c.7123G>A (p.Gly2375Arg)
c.7120G>A (p.Gly2374Arg)
c.575G>A
n.7206G>A
 ClinVar dbSNP
19g.38499730G>CCA405668243RYR1c.7123G>C (p.Gly2375Arg)
c.7120G>C (p.Gly2374Arg)
c.575G>C
n.7206G>C
 ClinVar dbSNP
19g.38499730G=CA2335052906RYR1c.7123G= (p.Gly2375=)
c.7120G= (p.Gly2374=)
c.575G=
n.7206G=
19g.38499730G>TCA405668246RYR1c.7123G>T (p.Gly2375Trp)
c.7120G>T (p.Gly2374Trp)
c.575G>T
n.7206G>T
 gnomAD v4
19g.38499732delCA633066147RYR1c.7125del (p.Leu2376CysfsTer?)
c.7122del (p.Leu2375CysfsTer?)
c.577del
n.7208del
 dbSNP gnomAD v2 gnomAD v4
19g.38499731G>ACA405668249RYR1c.7124G>A (p.Gly2375Glu)
c.7121G>A (p.Gly2374Glu)
c.576G>A
n.7207G>A
 ClinVar dbSNP
19g.38499731G>CCA024718RYR1c.7124G>C (p.Gly2375Ala)
c.7121G>C (p.Gly2374Ala)
c.576G>C
n.7207G>C
 ClinVar dbSNP
19g.38499731G=CA2335052907RYR1c.7124G= (p.Gly2375=)
c.7121G= (p.Gly2374=)
c.576G=
n.7207G=
19g.38499731G>TCA405668250RYR1c.7124G>T (p.Gly2375Val)
c.7121G>T (p.Gly2374Val)
c.576G>T
n.7207G>T
 gnomAD v4
19g.38499732G>ACA507353873RYR1c.7125G>A (p.Gly2375=)
c.7122G>A (p.Gly2374=)
c.577G>A
n.7208G>A
 ClinVar dbSNP gnomAD v4
19g.38499732G>CCA507353875RYR1c.7125G>C (p.Gly2375=)
c.7122G>C (p.Gly2374=)
c.577G>C
n.7208G>C
19g.38499732G=CA2335052908RYR1c.7125G= (p.Gly2375=)
c.7122G= (p.Gly2374=)
c.577G=
n.7208G=
19g.38499732G>TCA507353874RYR1c.7125G>T (p.Gly2375=)
c.7122G>T (p.Gly2374=)
c.577G>T
n.7208G>T
 gnomAD v4
19g.38499733C>ACA405668254RYR1c.7126C>A (p.Leu2376Met)
c.7123C>A (p.Leu2375Met)
c.578C>A
n.7209C>A
 gnomAD v4
19g.38499733C>GCA405668252RYR1c.7126C>G (p.Leu2376Val)
c.7123C>G (p.Leu2375Val)
c.578C>G
n.7209C>G
19g.38499733C>TCA507353876RYR1c.7126C>T (p.Leu2376=)
c.7123C>T (p.Leu2375=)
c.578C>T
n.7209C>T
 gnomAD v4
19g.38499734T>ACA405668256RYR1c.7127T>A (p.Leu2376Gln)
c.7124T>A (p.Leu2375Gln)
c.579T>A
n.7210T>A
19g.38499734T>CCA405668258RYR1c.7127T>C (p.Leu2376Pro)
c.7124T>C (p.Leu2375Pro)
c.579T>C
n.7210T>C
19g.38499734T>GCA405668259RYR1c.7127T>G (p.Leu2376Arg)
c.7124T>G (p.Leu2375Arg)
c.579T>G
n.7210T>G
 gnomAD v4
19g.38499735G>ACA507353877RYR1c.7128G>A (p.Leu2376=)
c.7125G>A (p.Leu2375=)
c.580G>A
n.7211G>A
 gnomAD v4
19g.38499735G>CCA507353878RYR1c.7128G>C (p.Leu2376=)
c.7125G>C (p.Leu2375=)
c.580G>C
n.7211G>C
19g.38499735G>TCA507353879RYR1c.7128G>T (p.Leu2376=)
c.7125G>T (p.Leu2375=)
c.580G>T
n.7211G>T
 gnomAD v4
19g.38499736C>ACA405668261RYR1c.7129C>A (p.Leu2377Met)
c.7126C>A (p.Leu2376Met)
c.581C>A
n.7212C>A
 gnomAD v4
19g.38499736C>GCA405668262RYR1c.7129C>G (p.Leu2377Val)
c.7126C>G (p.Leu2376Val)
c.581C>G
n.7212C>G
19g.38499736C>TCA507353880RYR1c.7129C>T (p.Leu2377=)
c.7126C>T (p.Leu2376=)
c.581C>T
n.7212C>T
 gnomAD v4
19g.38499737T>ACA405668265RYR1c.7130T>A (p.Leu2377Gln)
c.7127T>A (p.Leu2376Gln)
c.582T>A
n.7213T>A
19g.38499737T>CCA405668266RYR1c.7130T>C (p.Leu2377Pro)
c.7127T>C (p.Leu2376Pro)
c.582T>C
n.7213T>C
 ClinVar dbSNP
19g.38499737T>GCA405668268RYR1c.7130T>G (p.Leu2377Arg)
c.7127T>G (p.Leu2376Arg)
c.582T>G
n.7213T>G
 dbSNP
19g.38499737T=CA2335052909RYR1c.7130T= (p.Leu2377=)
c.7127T= (p.Leu2376=)
c.582T=
n.7213T=
19g.38499738G>ACA507353881RYR1c.7131G>A (p.Leu2377=)
c.7128G>A (p.Leu2376=)
c.583G>A
n.7214G>A
 ClinVar gnomAD v4
19g.38499738G>CCA507353883RYR1c.7131G>C (p.Leu2377=)
c.7128G>C (p.Leu2376=)
c.583G>C
n.7214G>C
19g.38499738G>TCA507353882RYR1c.7131G>T (p.Leu2377=)
c.7128G>T (p.Leu2376=)
c.583G>T
n.7214G>T
 gnomAD v4
19g.38499739G>ACA069169RYR1c.7132G>A (p.Ala2378Thr)
c.7129G>A (p.Ala2377Thr)
c.584G>A
n.7215G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499739G>CCA405668270RYR1c.7132G>C (p.Ala2378Pro)
c.7129G>C (p.Ala2377Pro)
c.584G>C
n.7215G>C
 gnomAD v4
19g.38499739G=CA2335052910RYR1c.7132G= (p.Ala2378=)
c.7129G= (p.Ala2377=)
c.584G=
n.7215G=
19g.38499739G>TCA405668273RYR1c.7132G>T (p.Ala2378Ser)
c.7129G>T (p.Ala2377Ser)
c.584G>T
n.7215G>T
 gnomAD v4
19g.38499740C>ACA405668281RYR1c.7133C>A (p.Ala2378Asp)
c.7130C>A (p.Ala2377Asp)
c.585C>A
n.7216C>A
19g.38499740C>GCA405668284RYR1c.7133C>G (p.Ala2378Gly)
c.7130C>G (p.Ala2377Gly)
c.585C>G
n.7216C>G
19g.38499740C>TCA405668286RYR1c.7133C>T (p.Ala2378Val)
c.7130C>T (p.Ala2377Val)
c.585C>T
n.7216C>T
 gnomAD v4
19g.38499741T>ACA507353884RYR1c.7134T>A (p.Ala2378=)
c.7131T>A (p.Ala2377=)
c.586T>A
n.7217T>A
19g.38499741T>CCA507353885RYR1c.7134T>C (p.Ala2378=)
c.7131T>C (p.Ala2377=)
c.586T>C
n.7217T>C
19g.38499741T>GCA507353886RYR1c.7134T>G (p.Ala2378=)
c.7131T>G (p.Ala2377=)
c.586T>G
n.7217T>G
19g.38499742G>ACA082336RYR1c.7135G>A (p.Ala2379Thr)
c.7132G>A (p.Ala2378Thr)
c.587G>A
n.7218G>A
 gnomAD v4
19g.38499742G>CCA405668287RYR1c.7135G>C (p.Ala2379Pro)
c.7132G>C (p.Ala2378Pro)
c.587G>C
n.7218G>C
19g.38499742G=CA2335052911RYR1c.7135G= (p.Ala2379=)
c.7132G= (p.Ala2378=)
c.587G=
n.7218G=
19g.38499742G>TCA308109556RYR1c.7135G>T (p.Ala2379Ser)
c.7132G>T (p.Ala2378Ser)
c.587G>T
n.7218G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499743C>ACA10651854RYR1c.7136C>A (p.Ala2379Asp)
c.7133C>A (p.Ala2378Asp)
c.588C>A
n.7219C>A
 ClinVar dbSNP gnomAD v4
19g.38499743C=CA2335052912RYR1c.7136C= (p.Ala2379=)
c.7133C= (p.Ala2378=)
c.588C=
n.7219C=
19g.38499743C>GCA405668288RYR1c.7136C>G (p.Ala2379Gly)
c.7133C>G (p.Ala2378Gly)
c.588C>G
n.7219C>G
 gnomAD v4
19g.38499743C>TCA405668289RYR1c.7136C>T (p.Ala2379Val)
c.7133C>T (p.Ala2378Val)
c.588C>T
n.7219C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499744C>ACA507353887RYR1c.7137C>A (p.Ala2379=)
c.7134C>A (p.Ala2378=)
c.589C>A
n.7220C>A
19g.38499744C>GCA507353888RYR1c.7137C>G (p.Ala2379=)
c.7134C>G (p.Ala2378=)
c.589C>G
n.7220C>G
19g.38499744C>TCA507353889RYR1c.7137C>T (p.Ala2379=)
c.7134C>T (p.Ala2378=)
c.589C>T
n.7220C>T
 ClinVar COSMIC
19g.38499745A>CCA405668292RYR1c.7138A>C (p.Ile2380Leu)
c.7135A>C (p.Ile2379Leu)
c.590A>C
n.7221A>C
19g.38499745A>GCA405668296RYR1c.7138A>G (p.Ile2380Val)
c.7135A>G (p.Ile2379Val)
c.590A>G
n.7221A>G
19g.38499745A>TCA405668300RYR1c.7138A>T (p.Ile2380Phe)
c.7135A>T (p.Ile2379Phe)
c.590A>T
n.7221A>T
19g.38499746T>ACA405668308RYR1c.7139T>A (p.Ile2380Asn)
c.7136T>A (p.Ile2379Asn)
c.591T>A
n.7222T>A
19g.38499746T>CCA405668303RYR1c.7139T>C (p.Ile2380Thr)
c.7136T>C (p.Ile2379Thr)
c.591T>C
n.7222T>C
19g.38499746T>GCA405668305RYR1c.7139T>G (p.Ile2380Ser)
c.7136T>G (p.Ile2379Ser)
c.591T>G
n.7222T>G
19g.38499747C>ACA507353890RYR1c.7140C>A (p.Ile2380=)
c.7137C>A (p.Ile2379=)
c.592C>A
n.7223C>A
 gnomAD v4
19g.38499747C=CA2335052913RYR1c.7140C= (p.Ile2380=)
c.7137C= (p.Ile2379=)
c.592C=
n.7223C=
19g.38499747C>GCA069173RYR1c.7140C>G (p.Ile2380Met)
c.7137C>G (p.Ile2379Met)
c.592C>G
n.7223C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499747C>TCA069177RYR1c.7140C>T (p.Ile2380=)
c.7137C>T (p.Ile2379=)
c.592C>T
n.7223C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499748G>ACA069181RYR1c.7141G>A (p.Glu2381Lys)
c.7138G>A (p.Glu2380Lys)
c.593G>A
n.7224G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499748G>CCA405668319RYR1c.7141G>C (p.Glu2381Gln)
c.7138G>C (p.Glu2380Gln)
c.593G>C
n.7224G>C
19g.38499748G=CA2335052914RYR1c.7141G= (p.Glu2381=)
c.7138G= (p.Glu2380=)
c.593G=
n.7224G=
19g.38499748G>TCA405668323RYR1c.7141G>T (p.Glu2381Ter)
c.7138G>T (p.Glu2380Ter)
c.593G>T
n.7224G>T
 gnomAD v4
19g.38499749A>CCA405668336RYR1c.7142A>C (p.Glu2381Ala)
c.7139A>C (p.Glu2380Ala)
c.594A>C
n.7225A>C
19g.38499749A>GCA405668325RYR1c.7142A>G (p.Glu2381Gly)
c.7139A>G (p.Glu2380Gly)
c.594A>G
n.7225A>G
19g.38499749A>TCA405668330RYR1c.7142A>T (p.Glu2381Val)
c.7139A>T (p.Glu2380Val)
c.594A>T
n.7225A>T
19g.38499750A>CCA405668339RYR1c.7143A>C (p.Glu2381Asp)
c.7140A>C (p.Glu2380Asp)
c.595A>C
n.7226A>C
19g.38499750A>GCA507353891RYR1c.7143A>G (p.Glu2381=)
c.7140A>G (p.Glu2380=)
c.595A>G
n.7226A>G
19g.38499750A>TCA405668340RYR1c.7143A>T (p.Glu2381Asp)
c.7140A>T (p.Glu2380Asp)
c.595A>T
n.7226A>T
19g.38499751delCA2739276775RYR1c.7144del (p.Glu2382ArgfsTer?)
c.7141del (p.Glu2381ArgfsTer?)
c.596del
n.7227del
 ClinVar
19g.38499751G>ACA082339RYR1c.7144G>A (p.Glu2382Lys)
c.7141G>A (p.Glu2381Lys)
c.596G>A
n.7227G>A
 ClinVar dbSNP gnomAD v4
19g.38499751G>CCA405668350RYR1c.7144G>C (p.Glu2382Gln)
c.7141G>C (p.Glu2381Gln)
c.596G>C
n.7227G>C
19g.38499751G=CA2335052915RYR1c.7144G= (p.Glu2382=)
c.7141G= (p.Glu2381=)
c.596G=
n.7227G=
19g.38499751G>TCA405668361RYR1c.7144G>T (p.Glu2382Ter)
c.7141G>T (p.Glu2381Ter)
c.596G>T
n.7227G>T
 gnomAD v4
19g.38499752A>CCA405668364RYR1c.7145A>C (p.Glu2382Ala)
c.7142A>C (p.Glu2381Ala)
c.597A>C
n.7228A>C
19g.38499752A>GCA405668367RYR1c.7145A>G (p.Glu2382Gly)
c.7142A>G (p.Glu2381Gly)
c.597A>G
n.7228A>G
19g.38499752A>TCA405668371RYR1c.7145A>T (p.Glu2382Val)
c.7142A>T (p.Glu2381Val)
c.597A>T
n.7228A>T
19g.38499753G>ACA507353892RYR1c.7146G>A (p.Glu2382=)
c.7143G>A (p.Glu2381=)
c.598G>A
n.7229G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499753G>CCA405668377RYR1c.7146G>C (p.Glu2382Asp)
c.7143G>C (p.Glu2381Asp)
c.598G>C
n.7229G>C
19g.38499753G=CA2335052916RYR1c.7146G= (p.Glu2382=)
c.7143G= (p.Glu2381=)
c.598G=
n.7229G=
19g.38499753G>TCA405668379RYR1c.7146G>T (p.Glu2382Asp)
c.7143G>T (p.Glu2381Asp)
c.598G>T
n.7229G>T
19g.38499754G>ACA405668380RYR1c.7147G>A (p.Ala2383Thr)
c.7144G>A (p.Ala2382Thr)
c.599G>A
n.7230G>A
19g.38499754G>CCA405668383RYR1c.7147G>C (p.Ala2383Pro)
c.7144G>C (p.Ala2382Pro)
c.599G>C
n.7230G>C
19g.38499754G=CA2335052917RYR1c.7147G= (p.Ala2383=)
c.7144G= (p.Ala2382=)
c.599G=
n.7230G=
19g.38499754G>TCA405668384RYR1c.7147G>T (p.Ala2383Ser)
c.7144G>T (p.Ala2382Ser)
c.599G>T
n.7230G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499755C>ACA405668386RYR1c.7148C>A (p.Ala2383Asp)
c.7145C>A (p.Ala2382Asp)
c.600C>A
n.7231C>A
 gnomAD v4
19g.38499755C>GCA405668392RYR1c.7148C>G (p.Ala2383Gly)
c.7145C>G (p.Ala2382Gly)
c.600C>G
n.7231C>G
19g.38499755C>TCA405668387RYR1c.7148C>T (p.Ala2383Val)
c.7145C>T (p.Ala2382Val)
c.600C>T
n.7231C>T
 gnomAD v4
19g.38499756C>ACA507353893RYR1c.7149C>A (p.Ala2383=)
c.7146C>A (p.Ala2382=)
c.601C>A
n.7232C>A
 ClinVar gnomAD v4
19g.38499756C=CA2335052918RYR1c.7149C= (p.Ala2383=)
c.7146C= (p.Ala2382=)
c.601C=
n.7232C=
19g.38499756C>GCA507353894RYR1c.7149C>G (p.Ala2383=)
c.7146C>G (p.Ala2382=)
c.601C>G
n.7232C>G
19g.38499756C>TCA507353895RYR1c.7149C>T (p.Ala2383=)
c.7146C>T (p.Ala2382=)
c.601C>T
n.7232C>T
 ClinVar dbSNP gnomAD v4
19g.38499757A>CCA405668402RYR1c.7150A>C (p.Ile2384Leu)
c.7147A>C (p.Ile2383Leu)
c.602A>C
n.7233A>C
19g.38499757A>GCA405668404RYR1c.7150A>G (p.Ile2384Val)
c.7147A>G (p.Ile2383Val)
c.602A>G
n.7233A>G
19g.38499757A>TCA405668405RYR1c.7150A>T (p.Ile2384Phe)
c.7147A>T (p.Ile2383Phe)
c.602A>T
n.7233A>T
19g.38499758T>ACA405668408RYR1c.7151T>A (p.Ile2384Asn)
c.7148T>A (p.Ile2383Asn)
c.603T>A
n.7234T>A
 COSMIC
19g.38499758T>CCA405668410RYR1c.7151T>C (p.Ile2384Thr)
c.7148T>C (p.Ile2383Thr)
c.603T>C
n.7234T>C
19g.38499758T>GCA405668414RYR1c.7151T>G (p.Ile2384Ser)
c.7148T>G (p.Ile2383Ser)
c.603T>G
n.7234T>G
19g.38499759C>ACA507353896RYR1c.7152C>A (p.Ile2384=)
c.7149C>A (p.Ile2383=)
c.604C>A
n.7235C>A
 gnomAD v4
19g.38499759C=CA2335052919RYR1c.7152C= (p.Ile2384=)
c.7149C= (p.Ile2383=)
c.604C=
n.7235C=
19g.38499759C>GCA405668428RYR1c.7152C>G (p.Ile2384Met)
c.7149C>G (p.Ile2383Met)
c.604C>G
n.7235C>G
19g.38499759C>TCA069182RYR1c.7152C>T (p.Ile2384=)
c.7149C>T (p.Ile2383=)
c.604C>T
n.7235C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499760C>ACA405668430RYR1c.7153C>A (p.Arg2385Ser)
c.7150C>A (p.Arg2384Ser)
c.605C>A
n.7236C>A
 gnomAD v4
19g.38499760C=CA2335052920RYR1c.7153C= (p.Arg2385=)
c.7150C= (p.Arg2384=)
c.605C=
n.7236C=
19g.38499760C>GCA405668432RYR1c.7153C>G (p.Arg2385Gly)
c.7150C>G (p.Arg2384Gly)
c.605C>G
n.7236C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499760C>TCA069185RYR1c.7153C>T (p.Arg2385Cys)
c.7150C>T (p.Arg2384Cys)
c.605C>T
n.7236C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499761G>ACA069189RYR1c.7154G>A (p.Arg2385His)
c.7151G>A (p.Arg2384His)
c.606G>A
n.7237G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499761G>CCA405668439RYR1c.7154G>C (p.Arg2385Pro)
c.7151G>C (p.Arg2384Pro)
c.606G>C
n.7237G>C
19g.38499761G=CA2335052921RYR1c.7154G= (p.Arg2385=)
c.7151G= (p.Arg2384=)
c.606G=
n.7237G=
19g.38499761G>TCA405668442RYR1c.7154G>T (p.Arg2385Leu)
c.7151G>T (p.Arg2384Leu)
c.606G>T
n.7237G>T
 gnomAD v4
19g.38499762C>ACA507353897RYR1c.7155C>A (p.Arg2385=)
c.7152C>A (p.Arg2384=)
c.607C>A
n.7238C>A
19g.38499762C>GCA507353898RYR1c.7155C>G (p.Arg2385=)
c.7152C>G (p.Arg2384=)
c.607C>G
n.7238C>G
19g.38499762C>TCA082340RYR1c.7155C>T (p.Arg2385=)
c.7152C>T (p.Arg2384=)
c.607C>T
n.7238C>T
19g.38499762dupCA2335052922RYR1c.7155dup (p.Ile2386HisfsTer23)
c.7152dup (p.Ile2385HisfsTer23)
c.607dup
n.7238dup
 dbSNP
19g.38499763A>CCA405668444RYR1c.7156A>C (p.Ile2386Leu)
c.7153A>C (p.Ile2385Leu)
c.608A>C
n.7239A>C
19g.38499763A>GCA405668450RYR1c.7156A>G (p.Ile2386Val)
c.7153A>G (p.Ile2385Val)
c.608A>G
n.7239A>G
19g.38499763A>TCA405668446RYR1c.7156A>T (p.Ile2386Phe)
c.7153A>T (p.Ile2385Phe)
c.608A>T
n.7239A>T
19g.38499764T>ACA082342RYR1c.7157T>A (p.Ile2386Asn)
c.7154T>A (p.Ile2385Asn)
c.609T>A
n.7240T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499764T>CCA405668460RYR1c.7157T>C (p.Ile2386Thr)
c.7154T>C (p.Ile2385Thr)
c.609T>C
n.7240T>C
19g.38499764T>GCA405668463RYR1c.7157T>G (p.Ile2386Ser)
c.7154T>G (p.Ile2385Ser)
c.609T>G
n.7240T>G
19g.38499764T=CA2335052923RYR1c.7157T= (p.Ile2386=)
c.7154T= (p.Ile2385=)
c.609T=
n.7240T=
19g.38499765C>ACA069193RYR1c.7158C>A (p.Ile2386=)
c.7155C>A (p.Ile2385=)
c.610C>A
n.7241C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499765C=CA2335052924RYR1c.7158C= (p.Ile2386=)
c.7155C= (p.Ile2385=)
c.610C=
n.7241C=
19g.38499765C>GCA405668479RYR1c.7158C>G (p.Ile2386Met)
c.7155C>G (p.Ile2385Met)
c.610C>G
n.7241C>G
19g.38499765C>TCA507353899RYR1c.7158C>T (p.Ile2386=)
c.7155C>T (p.Ile2385=)
c.610C>T
n.7241C>T
19g.38499766T>ACA405668485RYR1c.7159T>A (p.Ser2387Thr)
c.7156T>A (p.Ser2386Thr)
c.611T>A
n.7242T>A
 gnomAD v4
19g.38499766T>CCA405668487RYR1c.7159T>C (p.Ser2387Pro)
c.7156T>C (p.Ser2386Pro)
c.611T>C
n.7242T>C
19g.38499766T>GCA405668491RYR1c.7159T>G (p.Ser2387Ala)
c.7156T>G (p.Ser2386Ala)
c.611T>G
n.7242T>G
19g.38499767C>ACA405668495RYR1c.7160C>A (p.Ser2387Tyr)
c.7157C>A (p.Ser2386Tyr)
c.612C>A
n.7243C>A
19g.38499767C>GCA405668502RYR1c.7160C>G (p.Ser2387Cys)
c.7157C>G (p.Ser2386Cys)
c.612C>G
n.7243C>G
19g.38499767C>TCA405668505RYR1c.7160C>T (p.Ser2387Phe)
c.7157C>T (p.Ser2386Phe)
c.612C>T
n.7243C>T
 COSMIC
19g.38499768C>ACA082344RYR1c.7161C>A (p.Ser2387=)
c.7158C>A (p.Ser2386=)
c.613C>A
n.7244C>A
19g.38499768C=CA2335052925RYR1c.7161C= (p.Ser2387=)
c.7158C= (p.Ser2386=)
c.613C=
n.7244C=
19g.38499768C>GCA507353900RYR1c.7161C>G (p.Ser2387=)
c.7158C>G (p.Ser2386=)
c.613C>G
n.7244C>G
19g.38499768C>TCA069197RYR1c.7161C>T (p.Ser2387=)
c.7158C>T (p.Ser2386=)
c.613C>T
n.7244C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499773_38499783delCA2584900040RYR1c.7166_7176del (p.Asp2389GlyfsTer16)
c.7163_7173del (p.Asp2388GlyfsTer16)
c.618_628del
n.7249_7259del
 gnomAD v4
19g.38499769G>ACA069201RYR1c.7162G>A (p.Glu2388Lys)
c.7159G>A (p.Glu2387Lys)
c.614G>A
n.7245G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499769G>CCA405668521RYR1c.7162G>C (p.Glu2388Gln)
c.7159G>C (p.Glu2387Gln)
c.614G>C
n.7245G>C
19g.38499769G=CA2335052926RYR1c.7162G= (p.Glu2388=)
c.7159G= (p.Glu2387=)
c.614G=
n.7245G=
19g.38499769G>TCA405668524RYR1c.7162G>T (p.Glu2388Ter)
c.7159G>T (p.Glu2387Ter)
c.614G>T
n.7245G>T
 gnomAD v4
19g.38499770A>CCA405668527RYR1c.7163A>C (p.Glu2388Ala)
c.7160A>C (p.Glu2387Ala)
c.615A>C
n.7246A>C
19g.38499770A>GCA405668533RYR1c.7163A>G (p.Glu2388Gly)
c.7160A>G (p.Glu2387Gly)
c.615A>G
n.7246A>G
19g.38499770A>TCA405668529RYR1c.7163A>T (p.Glu2388Val)
c.7160A>T (p.Glu2387Val)
c.615A>T
n.7246A>T
19g.38499771G>ACA507353901RYR1c.7164G>A (p.Glu2388=)
c.7161G>A (p.Glu2387=)
c.616G>A
n.7247G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499771G>CCA405668538RYR1c.7164G>C (p.Glu2388Asp)
c.7161G>C (p.Glu2387Asp)
c.616G>C
n.7247G>C
19g.38499771G=CA2335052927RYR1c.7164G= (p.Glu2388=)
c.7161G= (p.Glu2387=)
c.616G=
n.7247G=
19g.38499771G>TCA405668539RYR1c.7164G>T (p.Glu2388Asp)
c.7161G>T (p.Glu2387Asp)
c.616G>T
n.7247G>T
19g.38499772G>ACA082346RYR1c.7165G>A (p.Asp2389Asn)
c.7162G>A (p.Asp2388Asn)
c.617G>A
n.7248G>A
 gnomAD v4
19g.38499772G>CCA405668542RYR1c.7165G>C (p.Asp2389His)
c.7162G>C (p.Asp2388His)
c.617G>C
n.7248G>C
19g.38499772G>TCA405668545RYR1c.7165G>T (p.Asp2389Tyr)
c.7162G>T (p.Asp2388Tyr)
c.617G>T
n.7248G>T
 gnomAD v4
19g.38499773A>CCA405668546RYR1c.7166A>C (p.Asp2389Ala)
c.7163A>C (p.Asp2388Ala)
c.618A>C
n.7249A>C
19g.38499773A>GCA405668547RYR1c.7166A>G (p.Asp2389Gly)
c.7163A>G (p.Asp2388Gly)
c.618A>G
n.7249A>G
 ClinVar
19g.38499773A>TCA405668554RYR1c.7166A>T (p.Asp2389Val)
c.7163A>T (p.Asp2388Val)
c.618A>T
n.7249A>T
19g.38499774C>ACA405668559RYR1c.7167C>A (p.Asp2389Glu)
c.7164C>A (p.Asp2388Glu)
c.619C>A
n.7250C>A
 gnomAD v4
19g.38499774C>GCA405668563RYR1c.7167C>G (p.Asp2389Glu)
c.7164C>G (p.Asp2388Glu)
c.619C>G
n.7250C>G
19g.38499774C>TCA507353902RYR1c.7167C>T (p.Asp2389=)
c.7164C>T (p.Asp2388=)
c.619C>T
n.7250C>T
19g.38499775C>ACA405668573RYR1c.7168C>A (p.Pro2390Thr)
c.7165C>A (p.Pro2389Thr)
c.620C>A
n.7251C>A
19g.38499775C=CA2335052928RYR1c.7168C= (p.Pro2390=)
c.7165C= (p.Pro2389=)
c.620C=
n.7251C=
19g.38499775C>GCA069202RYR1c.7168C>G (p.Pro2390Ala)
c.7165C>G (p.Pro2389Ala)
c.620C>G
n.7251C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499775C>TCA405668589RYR1c.7168C>T (p.Pro2390Ser)
c.7165C>T (p.Pro2389Ser)
c.620C>T
n.7251C>T
 gnomAD v4
19g.38499776C>ACA405668598RYR1c.7169C>A (p.Pro2390His)
c.7166C>A (p.Pro2389His)
c.621C>A
n.7252C>A
19g.38499776C>GCA405668600RYR1c.7169C>G (p.Pro2390Arg)
c.7166C>G (p.Pro2389Arg)
c.621C>G
n.7252C>G
19g.38499776C>TCA405668599RYR1c.7169C>T (p.Pro2390Leu)
c.7166C>T (p.Pro2389Leu)
c.621C>T
n.7252C>T
 gnomAD v4
19g.38499777T>ACA507353903RYR1c.7170T>A (p.Pro2390=)
c.7167T>A (p.Pro2389=)
c.622T>A
n.7253T>A
19g.38499777T>CCA507353904RYR1c.7170T>C (p.Pro2390=)
c.7167T>C (p.Pro2389=)
c.622T>C
n.7253T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38499777T>GCA507353905RYR1c.7170T>G (p.Pro2390=)
c.7167T>G (p.Pro2389=)
c.622T>G
n.7253T>G
19g.38499777T=CA2335052929RYR1c.7170T= (p.Pro2390=)
c.7167T= (p.Pro2389=)
c.622T=
n.7253T=
19g.38499778G>ACA405668602RYR1c.7171G>A (p.Ala2391Thr)
c.7168G>A (p.Ala2390Thr)
c.623G>A
n.7254G>A
19g.38499778G>CCA405668608RYR1c.7171G>C (p.Ala2391Pro)
c.7168G>C (p.Ala2390Pro)
c.623G>C
n.7254G>C
19g.38499778G>TCA405668610RYR1c.7171G>T (p.Ala2391Ser)
c.7168G>T (p.Ala2390Ser)
c.623G>T
n.7254G>T
 gnomAD v4
19g.38499779C>ACA405668614RYR1c.7172C>A (p.Ala2391Glu)
c.7169C>A (p.Ala2390Glu)
c.624C>A
n.7255C>A
19g.38499779C=CA2335052930RYR1c.7172C= (p.Ala2391=)
c.7169C= (p.Ala2390=)
c.624C=
n.7255C=
19g.38499779C>GCA405668617RYR1c.7172C>G (p.Ala2391Gly)
c.7169C>G (p.Ala2390Gly)
c.624C>G
n.7255C>G
19g.38499779C>TCA069207RYR1c.7172C>T (p.Ala2391Val)
c.7169C>T (p.Ala2390Val)
c.624C>T
n.7255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499780G>ACA069210RYR1c.7173G>A (p.Ala2391=)
c.7170G>A (p.Ala2390=)
c.625G>A
n.7256G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499780G>CCA507353907RYR1c.7173G>C (p.Ala2391=)
c.7170G>C (p.Ala2390=)
c.625G>C
n.7256G>C
19g.38499780G=CA2335052931RYR1c.7173G= (p.Ala2391=)
c.7170G= (p.Ala2390=)
c.625G=
n.7256G=
19g.38499780G>TCA507353906RYR1c.7173G>T (p.Ala2391=)
c.7170G>T (p.Ala2390=)
c.625G>T
n.7256G>T
 gnomAD v4
19g.38499781A>CCA507353908RYR1c.7174A>C (p.Arg2392=)
c.7171A>C (p.Arg2391=)
c.626A>C
n.7257A>C
19g.38499781A>GCA405668631RYR1c.7174A>G (p.Arg2392Gly)
c.7171A>G (p.Arg2391Gly)
c.626A>G
n.7257A>G
19g.38499781A>TCA405668634RYR1c.7174A>T (p.Arg2392Trp)
c.7171A>T (p.Arg2391Trp)
c.626A>T
n.7257A>T
19g.38499782G>ACA405668640RYR1c.7175G>A (p.Arg2392Lys)
c.7172G>A (p.Arg2391Lys)
c.627G>A
n.7258G>A
 dbSNP gnomAD v2
19g.38499782G>CCA405668639RYR1c.7175G>C (p.Arg2392Thr)
c.7172G>C (p.Arg2391Thr)
c.627G>C
n.7258G>C
19g.38499782G=CA2335052932RYR1c.7175G= (p.Arg2392=)
c.7172G= (p.Arg2391=)
c.627G=
n.7258G=
19g.38499782G>TCA405668637RYR1c.7175G>T (p.Arg2392Met)
c.7172G>T (p.Arg2391Met)
c.627G>T
n.7258G>T
 gnomAD v4
19g.38499784delCA2584900041RYR1c.7177del (p.Asp2393MetfsTer?)
c.7174del (p.Asp2392MetfsTer?)
c.629del
n.7260del
 gnomAD v4
19g.38499783G>ACA082349RYR1c.7176G>A (p.Arg2392=)
c.7173G>A (p.Arg2391=)
c.628G>A
n.7259G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499783G>CCA405668641RYR1c.7176G>C (p.Arg2392Ser)
c.7173G>C (p.Arg2391Ser)
c.628G>C
n.7259G>C
19g.38499783G=CA2335052933RYR1c.7176G= (p.Arg2392=)
c.7173G= (p.Arg2391=)
c.628G=
n.7259G=
19g.38499783G>TCA405668642RYR1c.7176G>T (p.Arg2392Ser)
c.7173G>T (p.Arg2391Ser)
c.628G>T
n.7259G>T
 gnomAD v4
19g.38499784G>ACA405668643RYR1c.7177G>A (p.Asp2393Asn)
c.7174G>A (p.Asp2392Asn)
c.629G>A
n.7260G>A
19g.38499784G>CCA405668645RYR1c.7177G>C (p.Asp2393His)
c.7174G>C (p.Asp2392His)
c.629G>C
n.7260G>C
19g.38499784G=CA2335052934RYR1c.7177G= (p.Asp2393=)
c.7174G= (p.Asp2392=)
c.629G=
n.7260G=
19g.38499784G>TCA405668647RYR1c.7177G>T (p.Asp2393Tyr)
c.7174G>T (p.Asp2392Tyr)
c.629G>T
n.7260G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499785A=CA2335052935RYR1c.7178A= (p.Asp2393=)
c.7175A= (p.Asp2392=)
c.630A=
n.7261A=
19g.38499785A>CCA069214RYR1c.7178A>C (p.Asp2393Ala)
c.7175A>C (p.Asp2392Ala)
c.630A>C
n.7261A>C
 ClinVar dbSNP ExAC gnomAD v4
19g.38499785A>GCA405668651RYR1c.7178A>G (p.Asp2393Gly)
c.7175A>G (p.Asp2392Gly)
c.630A>G
n.7261A>G
 gnomAD v4
19g.38499785A>TCA405668661RYR1c.7178A>T (p.Asp2393Val)
c.7175A>T (p.Asp2392Val)
c.630A>T
n.7261A>T
19g.38499786T>ACA405668664RYR1c.7179T>A (p.Asp2393Glu)
c.7176T>A (p.Asp2392Glu)
c.631T>A
n.7262T>A
19g.38499786T>CCA507353909RYR1c.7179T>C (p.Asp2393=)
c.7176T>C (p.Asp2392=)
c.631T>C
n.7262T>C
 gnomAD v4
19g.38499786T>GCA405668665RYR1c.7179T>G (p.Asp2393Glu)
c.7176T>G (p.Asp2392Glu)
c.631T>G
n.7262T>G
19g.38499787G>ACA405668677RYR1c.7180G>A (p.Gly2394Ser)
c.7177G>A (p.Gly2393Ser)
c.632G>A
n.7263G>A
 dbSNP gnomAD v4
19g.38499787G>CCA405668680RYR1c.7180G>C (p.Gly2394Arg)
c.7177G>C (p.Gly2393Arg)
c.632G>C
n.7263G>C
19g.38499787G=CA2335052936RYR1c.7180G= (p.Gly2394=)
c.7177G= (p.Gly2393=)
c.632G=
n.7263G=
19g.38499787G>TCA405668682RYR1c.7180G>T (p.Gly2394Cys)
c.7177G>T (p.Gly2393Cys)
c.632G>T
n.7263G>T
 ClinVar
19g.38499788G>ACA405668700RYR1c.7181G>A (p.Gly2394Asp)
c.7178G>A (p.Gly2393Asp)
c.633G>A
n.7264G>A
 gnomAD v4
19g.38499788G>CCA405668690RYR1c.7181G>C (p.Gly2394Ala)
c.7178G>C (p.Gly2393Ala)
c.633G>C
n.7264G>C
19g.38499788G>TCA405668694RYR1c.7181G>T (p.Gly2394Val)
c.7178G>T (p.Gly2393Val)
c.633G>T
n.7264G>T
 gnomAD v4
19g.38499789C>ACA507353912RYR1c.7182C>A (p.Gly2394=)
c.7179C>A (p.Gly2393=)
c.634C>A
n.7265C>A
19g.38499789C>GCA507353910RYR1c.7182C>G (p.Gly2394=)
c.7179C>G (p.Gly2393=)
c.634C>G
n.7265C>G
19g.38499789C>TCA507353911RYR1c.7182C>T (p.Gly2394=)
c.7179C>T (p.Gly2393=)
c.634C>T
n.7265C>T
 gnomAD v4
19g.38499790C>ACA405668703RYR1c.7183C>A (p.Pro2395Thr)
c.7180C>A (p.Pro2394Thr)
c.635C>A
n.7266C>A
19g.38499790C>GCA405668704RYR1c.7183C>G (p.Pro2395Ala)
c.7180C>G (p.Pro2394Ala)
c.635C>G
n.7266C>G
 gnomAD v4
19g.38499790C>TCA405668714RYR1c.7183C>T (p.Pro2395Ser)
c.7180C>T (p.Pro2394Ser)
c.635C>T
n.7266C>T
19g.38499791C>ACA405668717RYR1c.7184C>A (p.Pro2395Gln)
c.7181C>A (p.Pro2394Gln)
c.636C>A
n.7267C>A
 gnomAD v4
19g.38499791C>GCA405668720RYR1c.7184C>G (p.Pro2395Arg)
c.7181C>G (p.Pro2394Arg)
c.636C>G
n.7267C>G
19g.38499791C>TCA405668724RYR1c.7184C>T (p.Pro2395Leu)
c.7181C>T (p.Pro2394Leu)
c.636C>T
n.7267C>T
 gnomAD v4
19g.38499792A>CCA507353913RYR1c.7185A>C (p.Pro2395=)
c.7182A>C (p.Pro2394=)
c.637A>C
n.7268A>C
19g.38499792A>GCA507353914RYR1c.7185A>G (p.Pro2395=)
c.7182A>G (p.Pro2394=)
c.637A>G
n.7268A>G
 ClinVar
19g.38499792A>TCA507353915RYR1c.7185A>T (p.Pro2395=)
c.7182A>T (p.Pro2394=)
c.637A>T
n.7268A>T
19g.38499793G>ACA405668727RYR1c.7186G>A (p.Gly2396Ser)
c.7183G>A (p.Gly2395Ser)
c.638G>A
n.7269G>A
19g.38499793G>CCA405668731RYR1c.7186G>C (p.Gly2396Arg)
c.7183G>C (p.Gly2395Arg)
c.638G>C
n.7269G>C
19g.38499793G>TCA405668736RYR1c.7186G>T (p.Gly2396Cys)
c.7183G>T (p.Gly2395Cys)
c.638G>T
n.7269G>T
 gnomAD v4
19g.38499794G>ACA069215RYR1c.7187G>A (p.Gly2396Asp)
c.7184G>A (p.Gly2395Asp)
c.639G>A
n.7270G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499794G>CCA405668745RYR1c.7187G>C (p.Gly2396Ala)
c.7184G>C (p.Gly2395Ala)
c.639G>C
n.7270G>C
 ClinVar
19g.38499794G=CA2335052937RYR1c.7187G= (p.Gly2396=)
c.7184G= (p.Gly2395=)
c.639G=
n.7270G=
19g.38499794G>TCA405668750RYR1c.7187G>T (p.Gly2396Val)
c.7184G>T (p.Gly2395Val)
c.639G>T
n.7270G>T
 gnomAD v4
19g.38499795C>ACA507353918RYR1c.7188C>A (p.Gly2396=)
c.7185C>A (p.Gly2395=)
c.640C>A
n.7271C>A
19g.38499795C>GCA507353916RYR1c.7188C>G (p.Gly2396=)
c.7185C>G (p.Gly2395=)
c.640C>G
n.7271C>G
19g.38499795C>TCA507353917RYR1c.7188C>T (p.Gly2396=)
c.7185C>T (p.Gly2395=)
c.640C>T
n.7271C>T
19g.38499796A>CCA405668755RYR1c.7189A>C (p.Ile2397Leu)
c.7186A>C (p.Ile2396Leu)
c.641A>C
n.7272A>C
19g.38499796A>GCA405668754RYR1c.7189A>G (p.Ile2397Val)
c.7186A>G (p.Ile2396Val)
c.641A>G
n.7272A>G
 ClinVar gnomAD v4
19g.38499796A>TCA405668753RYR1c.7189A>T (p.Ile2397Phe)
c.7186A>T (p.Ile2396Phe)
c.641A>T
n.7272A>T
19g.38499797T>ACA405668757RYR1c.7190T>A (p.Ile2397Asn)
c.7187T>A (p.Ile2396Asn)
c.642T>A
n.7273T>A
 gnomAD v4
19g.38499797T>CCA405668756RYR1c.7190T>C (p.Ile2397Thr)
c.7187T>C (p.Ile2396Thr)
c.642T>C
n.7273T>C
19g.38499797T>GCA405668758RYR1c.7190T>G (p.Ile2397Ser)
c.7187T>G (p.Ile2396Ser)
c.642T>G
n.7273T>G
19g.38499798C>ACA507353919RYR1c.7191C>A (p.Ile2397=)
c.7188C>A (p.Ile2396=)
c.643C>A
n.7274C>A
19g.38499798C>GCA405668761RYR1c.7191C>G (p.Ile2397Met)
c.7188C>G (p.Ile2396Met)
c.643C>G
n.7274C>G
19g.38499798C>TCA507353920RYR1c.7191C>T (p.Ile2397=)
c.7188C>T (p.Ile2396=)
c.643C>T
n.7274C>T
 ClinVar gnomAD v4
19g.38499799C>ACA405668762RYR1c.7192C>A (p.Arg2398Ser)
c.7189C>A (p.Arg2397Ser)
c.644C>A
n.7275C>A
 gnomAD v4
19g.38499799C=CA2335052938RYR1c.7192C= (p.Arg2398=)
c.7189C= (p.Arg2397=)
c.644C=
n.7275C=
19g.38499799C>GCA405668763RYR1c.7192C>G (p.Arg2398Gly)
c.7189C>G (p.Arg2397Gly)
c.644C>G
n.7275C>G
19g.38499799C>TCA069218RYR1c.7192C>T (p.Arg2398Cys)
c.7189C>T (p.Arg2397Cys)
c.644C>T
n.7275C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499800G>ACA069224RYR1c.7193G>A (p.Arg2398His)
c.7190G>A (p.Arg2397His)
c.645G>A
n.7276G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499800G>CCA405668765RYR1c.7193G>C (p.Arg2398Pro)
c.7190G>C (p.Arg2397Pro)
c.645G>C
n.7276G>C
19g.38499800G=CA2335052939RYR1c.7193G= (p.Arg2398=)
c.7190G= (p.Arg2397=)
c.645G=
n.7276G=
19g.38499800G>TCA405668766RYR1c.7193G>T (p.Arg2398Leu)
c.7190G>T (p.Arg2397Leu)
c.645G>T
n.7276G>T
 gnomAD v4
19g.38499801C>ACA507353921RYR1c.7194C>A (p.Arg2398=)
c.7191C>A (p.Arg2397=)
c.646C>A
n.7277C>A
19g.38499801C=CA2335052940RYR1c.7194C= (p.Arg2398=)
c.7191C= (p.Arg2397=)
c.646C=
n.7277C=
19g.38499801C>GCA507353922RYR1c.7194C>G (p.Arg2398=)
c.7191C>G (p.Arg2397=)
c.646C>G
n.7277C>G
19g.38499801C>TCA308109635RYR1c.7194C>T (p.Arg2398=)
c.7191C>T (p.Arg2397=)
c.646C>T
n.7277C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499802A>CCA507353923RYR1c.7195A>C (p.Arg2399=)
c.7192A>C (p.Arg2398=)
c.647A>C
n.7278A>C
19g.38499802A>GCA405668782RYR1c.7195A>G (p.Arg2399Gly)
c.7192A>G (p.Arg2398Gly)
c.647A>G
n.7278A>G
 gnomAD v4
19g.38499802A>TCA405668785RYR1c.7195A>T (p.Arg2399Trp)
c.7192A>T (p.Arg2398Trp)
c.647A>T
n.7278A>T
19g.38499802_38499803delinsAGCA2335052941RYR1c.7195_7196delinsAG (p.Arg2399=)
c.7192_7193delinsAG (p.Arg2398=)
c.647_648delinsAG
n.7278_7279delinsAG
19g.38499803G>ACA082353RYR1c.7196G>A (p.Arg2399Lys)
c.7193G>A (p.Arg2398Lys)
c.648G>A
n.7279G>A
19g.38499803G>CCA405668799RYR1c.7196G>C (p.Arg2399Thr)
c.7193G>C (p.Arg2398Thr)
c.648G>C
n.7279G>C
19g.38499803G>TCA405668802RYR1c.7196G>T (p.Arg2399Met)
c.7193G>T (p.Arg2398Met)
c.648G>T
n.7279G>T
19g.38499805delCA069225RYR1c.7198del (p.Asp2400ThrfsTer30)
c.7195del (p.Asp2399ThrfsTer30)
c.650del
n.7281del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499804G>ACA507353924RYR1c.7197G>A (p.Arg2399=)
c.7194G>A (p.Arg2398=)
c.649G>A
n.7280G>A
 dbSNP
19g.38499804G>CCA405668807RYR1c.7197G>C (p.Arg2399Ser)
c.7194G>C (p.Arg2398Ser)
c.649G>C
n.7280G>C
19g.38499804G=CA2335052942RYR1c.7197G= (p.Arg2399=)
c.7194G= (p.Arg2398=)
c.649G=
n.7280G=
19g.38499804G>TCA405668810RYR1c.7197G>T (p.Arg2399Ser)
c.7194G>T (p.Arg2398Ser)
c.649G>T
n.7280G>T
 gnomAD v4
19g.38499805G>ACA405668817RYR1c.7198G>A (p.Asp2400Asn)
c.7195G>A (p.Asp2399Asn)
c.650G>A
n.7281G>A
 gnomAD v4
19g.38499805G>CCA405668819RYR1c.7198G>C (p.Asp2400His)
c.7195G>C (p.Asp2399His)
c.650G>C
n.7281G>C
19g.38499805G>TCA405668822RYR1c.7198G>T (p.Asp2400Tyr)
c.7195G>T (p.Asp2399Tyr)
c.650G>T
n.7281G>T
19g.38499806A=CA2335052943RYR1c.7199A= (p.Asp2400=)
c.7196A= (p.Asp2399=)
c.651A=
n.7282A=
19g.38499806A>CCA405668826RYR1c.7199A>C (p.Asp2400Ala)
c.7196A>C (p.Asp2399Ala)
c.651A>C
n.7282A>C
19g.38499806A>GCA308109644RYR1c.7199A>G (p.Asp2400Gly)
c.7196A>G (p.Asp2399Gly)
c.651A>G
n.7282A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499806A>TCA405668828RYR1c.7199A>T (p.Asp2400Val)
c.7196A>T (p.Asp2399Val)
c.651A>T
n.7282A>T
19g.38499806_38499830delinsACCGGCGGCGCGAGCAGTGAGTCTCCA2335052944RYR1c.7199_7214+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.7196_7211+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.651_666+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
n.7282_7297+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
19g.38499807C>ACA405668830RYR1c.7200C>A (p.Asp2400Glu)
c.7197C>A (p.Asp2399Glu)
c.652C>A
n.7283C>A
 gnomAD v4
19g.38499807C=CA2335052945RYR1c.7200C= (p.Asp2400=)
c.7197C= (p.Asp2399=)
c.652C=
n.7283C=
19g.38499807C>GCA405668832RYR1c.7200C>G (p.Asp2400Glu)
c.7197C>G (p.Asp2399Glu)
c.652C>G
n.7283C>G
19g.38499807C>TCA069228RYR1c.7200C>T (p.Asp2400=)
c.7197C>T (p.Asp2399=)
c.652C>T
n.7283C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499812_38499835delCA633066148RYR1c.7205_7214+14del
c.7202_7211+14del
c.657_666+14del
n.7288_7297+14del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499808C>ACA507353925RYR1c.7201C>A (p.Arg2401=)
c.7198C>A (p.Arg2400=)
c.653C>A
n.7284C>A
 gnomAD v4
19g.38499808C=CA2335052946RYR1c.7201C= (p.Arg2401=)
c.7198C= (p.Arg2400=)
c.653C=
n.7284C=
19g.38499808C>GCA405668834RYR1c.7201C>G (p.Arg2401Gly)
c.7198C>G (p.Arg2400Gly)
c.653C>G
n.7284C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499808C>TCA405668836RYR1c.7201C>T (p.Arg2401Trp)
c.7198C>T (p.Arg2400Trp)
c.653C>T
n.7284C>T
 dbSNP gnomAD v4

Number of alleles fetched