Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499712_38499721delCA995715538RYR1c.7105_7114del (p.Arg2369ValfsTer?)
c.7102_7111del (p.Arg2368ValfsTer?)
c.557_566del
n.7188_7197del
 gnomAD v3 gnomAD v4
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
 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
 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

Number of alleles fetched