Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499655G>ACA024690RYR1c.7048G>A (p.Ala2350Thr)
c.7045G>A (p.Ala2349Thr)
c.500G>A
n.7131G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499655G>CCA405667817RYR1c.7048G>C (p.Ala2350Pro)
c.7045G>C (p.Ala2349Pro)
c.500G>C
n.7131G>C
19g.38499655G=CA2335052855RYR1c.7048G= (p.Ala2350=)
c.7045G= (p.Ala2349=)
c.500G=
n.7131G=
19g.38499655G>TCA405667818RYR1c.7048G>T (p.Ala2350Ser)
c.7045G>T (p.Ala2349Ser)
c.500G>T
n.7131G>T
 gnomAD v4
19g.38499656C>ACA405667822RYR1c.7049C>A (p.Ala2350Asp)
c.7046C>A (p.Ala2349Asp)
c.501C>A
n.7132C>A
19g.38499656C>GCA405667825RYR1c.7049C>G (p.Ala2350Gly)
c.7046C>G (p.Ala2349Gly)
c.501C>G
n.7132C>G
 COSMIC
19g.38499656C>TCA405667826RYR1c.7049C>T (p.Ala2350Val)
c.7046C>T (p.Ala2349Val)
c.501C>T
n.7132C>T
 gnomAD v4
19g.38499657C>ACA507353813RYR1c.7050C>A (p.Ala2350=)
c.7047C>A (p.Ala2349=)
c.502C>A
n.7133C>A
19g.38499657C>GCA507353814RYR1c.7050C>G (p.Ala2350=)
c.7047C>G (p.Ala2349=)
c.502C>G
n.7133C>G
19g.38499657C>TCA082313RYR1c.7050C>T (p.Ala2350=)
c.7047C>T (p.Ala2349=)
c.502C>T
n.7133C>T
 gnomAD v4
19g.38499658A=CA2335052856RYR1c.7051A= (p.Asn2351=)
c.7048A= (p.Asn2350=)
c.503A=
n.7134A=
19g.38499658A>CCA069074RYR1c.7051A>C (p.Asn2351His)
c.7048A>C (p.Asn2350His)
c.503A>C
n.7134A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499658A>GCA405667830RYR1c.7051A>G (p.Asn2351Asp)
c.7048A>G (p.Asn2350Asp)
c.503A>G
n.7134A>G
 dbSNP gnomAD v4
19g.38499658A>TCA405667829RYR1c.7051A>T (p.Asn2351Tyr)
c.7048A>T (p.Asn2350Tyr)
c.503A>T
n.7134A>T
19g.38499659A=CA2335052857RYR1c.7052A= (p.Asn2351=)
c.7049A= (p.Asn2350=)
c.504A=
n.7135A=
19g.38499659A>CCA405667831RYR1c.7052A>C (p.Asn2351Thr)
c.7049A>C (p.Asn2350Thr)
c.504A>C
n.7135A>C
19g.38499659A>GCA069078RYR1c.7052A>G (p.Asn2351Ser)
c.7049A>G (p.Asn2350Ser)
c.504A>G
n.7135A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499659A>TCA405667832RYR1c.7052A>T (p.Asn2351Ile)
c.7049A>T (p.Asn2350Ile)
c.504A>T
n.7135A>T
19g.38499660T>ACA405667833RYR1c.7053T>A (p.Asn2351Lys)
c.7050T>A (p.Asn2350Lys)
c.505T>A
n.7136T>A
19g.38499660T>CCA069079RYR1c.7053T>C (p.Asn2351=)
c.7050T>C (p.Asn2350=)
c.505T>C
n.7136T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499660T>GCA405667836RYR1c.7053T>G (p.Asn2351Lys)
c.7050T>G (p.Asn2350Lys)
c.505T>G
n.7136T>G
19g.38499660T=CA2335052858RYR1c.7053T= (p.Asn2351=)
c.7050T= (p.Asn2350=)
c.505T=
n.7136T=
19g.38499661G>ACA405667843RYR1c.7054G>A (p.Val2352Met)
c.7051G>A (p.Val2351Met)
c.506G>A
n.7137G>A
 gnomAD v4
19g.38499661G>CCA405667839RYR1c.7054G>C (p.Val2352Leu)
c.7051G>C (p.Val2351Leu)
c.506G>C
n.7137G>C
19g.38499661G=CA2335052859RYR1c.7054G= (p.Val2352=)
c.7051G= (p.Val2351=)
c.506G=
n.7137G=
19g.38499661G>TCA405667841RYR1c.7054G>T (p.Val2352Leu)
c.7051G>T (p.Val2351Leu)
c.506G>T
n.7137G>T
 ClinVar dbSNP gnomAD v4
19g.38499667_38499669delCA2695228665RYR1c.7060_7062del (p.Val2354del)
c.7057_7059del (p.Val2353del)
c.512_514del
n.7143_7145del
19g.38499662T>ACA405667845RYR1c.7055T>A (p.Val2352Glu)
c.7052T>A (p.Val2351Glu)
c.507T>A
n.7138T>A
 gnomAD v4
19g.38499662T>CCA405667848RYR1c.7055T>C (p.Val2352Ala)
c.7052T>C (p.Val2351Ala)
c.507T>C
n.7138T>C
19g.38499662T>GCA405667850RYR1c.7055T>G (p.Val2352Gly)
c.7052T>G (p.Val2351Gly)
c.507T>G
n.7138T>G
19g.38499663G>ACA507353818RYR1c.7056G>A (p.Val2352=)
c.7053G>A (p.Val2351=)
c.508G>A
n.7139G>A
 ClinVar dbSNP gnomAD v4
19g.38499663G>CCA507353820RYR1c.7056G>C (p.Val2352=)
c.7053G>C (p.Val2351=)
c.508G>C
n.7139G>C
19g.38499663G=CA2335052860RYR1c.7056G= (p.Val2352=)
c.7053G= (p.Val2351=)
c.508G=
n.7139G=
19g.38499663G>TCA507353821RYR1c.7056G>T (p.Val2352=)
c.7053G>T (p.Val2351=)
c.508G>T
n.7139G>T
 gnomAD v4
19g.38499663_38499664insTACA082287RYR1c.7056_7057insTA (p.Val2353Ter)
c.7053_7054insTA (p.Val2352Ter)
c.508_509insTA
n.7139_7140insTA
19g.38499664G>ACA069083RYR1c.7057G>A (p.Val2353Met)
c.7054G>A (p.Val2352Met)
c.509G>A
n.7140G>A
 dbSNP ExAC gnomAD v2
19g.38499664G>CCA405667854RYR1c.7057G>C (p.Val2353Leu)
c.7054G>C (p.Val2352Leu)
c.509G>C
n.7140G>C
19g.38499664G=CA2335052861RYR1c.7057G= (p.Val2353=)
c.7054G= (p.Val2352=)
c.509G=
n.7140G=
19g.38499664G>TCA405667856RYR1c.7057G>T (p.Val2353Leu)
c.7054G>T (p.Val2352Leu)
c.509G>T
n.7140G>T
 gnomAD v4
19g.38499665T>ACA405667858RYR1c.7058T>A (p.Val2353Glu)
c.7055T>A (p.Val2352Glu)
c.510T>A
n.7141T>A
19g.38499665T>CCA405667859RYR1c.7058T>C (p.Val2353Ala)
c.7055T>C (p.Val2352Ala)
c.510T>C
n.7141T>C
 dbSNP gnomAD v4
19g.38499665T>GCA405667862RYR1c.7058T>G (p.Val2353Gly)
c.7055T>G (p.Val2352Gly)
c.510T>G
n.7141T>G
19g.38499666G>ACA507353825RYR1c.7059G>A (p.Val2353=)
c.7056G>A (p.Val2352=)
c.511G>A
n.7142G>A
 gnomAD v4
19g.38499666G>CCA507353826RYR1c.7059G>C (p.Val2353=)
c.7056G>C (p.Val2352=)
c.511G>C
n.7142G>C
19g.38499666G=CA2335052862RYR1c.7059G= (p.Val2353=)
c.7056G= (p.Val2352=)
c.511G=
n.7142G=
19g.38499666G>TCA069089RYR1c.7059G>T (p.Val2353=)
c.7056G>T (p.Val2352=)
c.511G>T
n.7142G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499667G>ACA082317RYR1c.7060G>A (p.Val2354Met)
c.7057G>A (p.Val2353Met)
c.512G>A
n.7143G>A
 ClinVar dbSNP gnomAD v4
19g.38499667G>CCA405667878RYR1c.7060G>C (p.Val2354Leu)
c.7057G>C (p.Val2353Leu)
c.512G>C
n.7143G>C
 gnomAD v4
19g.38499667G=CA2335052863RYR1c.7060G= (p.Val2354=)
c.7057G= (p.Val2353=)
c.512G=
n.7143G=
19g.38499667G>TCA069094RYR1c.7060G>T (p.Val2354Leu)
c.7057G>T (p.Val2353Leu)
c.512G>T
n.7143G>T
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched