Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499649_38499651delCA024679RYR1c.7042_7044del (p.Glu2348del)
c.7039_7041del (p.Glu2347del)
c.494_496del
n.7125_7127del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499649G>ACA082310RYR1c.7042G>A (p.Glu2348Lys)
c.7039G>A (p.Glu2347Lys)
c.494G>A
n.7125G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38499649G>CCA405667794RYR1c.7042G>C (p.Glu2348Gln)
c.7039G>C (p.Glu2347Gln)
c.494G>C
n.7125G>C
19g.38499649G=CA2335052850RYR1c.7042G= (p.Glu2348=)
c.7039G= (p.Glu2347=)
c.494G=
n.7125G=
19g.38499649G>TCA405667793RYR1c.7042G>T (p.Glu2348Ter)
c.7039G>T (p.Glu2347Ter)
c.494G>T
n.7125G>T
 gnomAD v4
19g.38499650A=CA2335052851RYR1c.7043A= (p.Glu2348=)
c.7040A= (p.Glu2347=)
c.495A=
n.7126A=
19g.38499650A>CCA082311RYR1c.7043A>C (p.Glu2348Ala)
c.7040A>C (p.Glu2347Ala)
c.495A>C
n.7126A>C
19g.38499650A>GCA024686RYR1c.7043A>G (p.Glu2348Gly)
c.7040A>G (p.Glu2347Gly)
c.495A>G
n.7126A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499650A>TCA405667795RYR1c.7043A>T (p.Glu2348Val)
c.7040A>T (p.Glu2347Val)
c.495A>T
n.7126A>T
19g.38499651G>ACA507353799RYR1c.7044G>A (p.Glu2348=)
c.7041G>A (p.Glu2347=)
c.496G>A
n.7127G>A
 gnomAD v4
19g.38499651G>CCA405667796RYR1c.7044G>C (p.Glu2348Asp)
c.7041G>C (p.Glu2347Asp)
c.496G>C
n.7127G>C
19g.38499651G=CA2335052852RYR1c.7044G= (p.Glu2348=)
c.7041G= (p.Glu2347=)
c.496G=
n.7127G=
19g.38499651G>TCA405667797RYR1c.7044G>T (p.Glu2348Asp)
c.7041G>T (p.Glu2347Asp)
c.496G>T
n.7127G>T
 dbSNP gnomAD v4
19g.38499652A=CA2335052853RYR1c.7045A= (p.Asn2349=)
c.7042A= (p.Asn2348=)
c.497A=
n.7128A=
19g.38499652A>CCA405667799RYR1c.7045A>C (p.Asn2349His)
c.7042A>C (p.Asn2348His)
c.497A>C
n.7128A>C
 dbSNP
19g.38499652A>GCA405667801RYR1c.7045A>G (p.Asn2349Asp)
c.7042A>G (p.Asn2348Asp)
c.497A>G
n.7128A>G
 COSMIC
19g.38499652A>TCA069069RYR1c.7045A>T (p.Asn2349Tyr)
c.7042A>T (p.Asn2348Tyr)
c.497A>T
n.7128A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499653A>CCA405667805RYR1c.7046A>C (p.Asn2349Thr)
c.7043A>C (p.Asn2348Thr)
c.498A>C
n.7129A>C
19g.38499653A>GCA405667807RYR1c.7046A>G (p.Asn2349Ser)
c.7043A>G (p.Asn2348Ser)
c.498A>G
n.7129A>G
19g.38499653A>TCA405667809RYR1c.7046A>T (p.Asn2349Ile)
c.7043A>T (p.Asn2348Ile)
c.498A>T
n.7129A>T
19g.38499654C>ACA405667813RYR1c.7047C>A (p.Asn2349Lys)
c.7044C>A (p.Asn2348Lys)
c.499C>A
n.7130C>A
19g.38499654C=CA2335052854RYR1c.7047C= (p.Asn2349=)
c.7044C= (p.Asn2348=)
c.499C=
n.7130C=
19g.38499654C>GCA405667815RYR1c.7047C>G (p.Asn2349Lys)
c.7044C>G (p.Asn2348Lys)
c.499C>G
n.7130C>G
19g.38499654C>TCA069073RYR1c.7047C>T (p.Asn2349=)
c.7044C>T (p.Asn2348=)
c.499C>T
n.7130C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
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

Number of alleles fetched