Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38485802G>ACA405653972RYR1c.5147G>A (p.Ser1716Asn)
c.5144G>A (p.Ser1715Asn)
n.5230G>A
19g.38485802G>CCA405653973RYR1c.5147G>C (p.Ser1716Thr)
c.5144G>C (p.Ser1715Thr)
n.5230G>C
 ClinVar
19g.38485802G>TCA405653975RYR1c.5147G>T (p.Ser1716Ile)
c.5144G>T (p.Ser1715Ile)
n.5230G>T
19g.38485803C>ACA405653977RYR1c.5148C>A (p.Ser1716Arg)
c.5145C>A (p.Ser1715Arg)
n.5231C>A
19g.38485803C>GCA405653979RYR1c.5148C>G (p.Ser1716Arg)
c.5145C>G (p.Ser1715Arg)
n.5231C>G
19g.38485803C>TCA507238736RYR1c.5148C>T (p.Ser1716=)
c.5145C>T (p.Ser1715=)
n.5231C>T
 ClinVar gnomAD v4
19g.38485804A>CCA405653980RYR1c.5149A>C (p.Ile1717Leu)
c.5146A>C (p.Ile1716Leu)
n.5232A>C
19g.38485804A>GCA405653981RYR1c.5149A>G (p.Ile1717Val)
c.5146A>G (p.Ile1716Val)
n.5232A>G
19g.38485804A>TCA405653983RYR1c.5149A>T (p.Ile1717Phe)
c.5146A>T (p.Ile1716Phe)
n.5232A>T
19g.38485805T>ACA405653985RYR1c.5150T>A (p.Ile1717Asn)
c.5147T>A (p.Ile1716Asn)
n.5233T>A
 dbSNP gnomAD v4
19g.38485805T>CCA405653986RYR1c.5150T>C (p.Ile1717Thr)
c.5147T>C (p.Ile1716Thr)
n.5233T>C
 dbSNP
19g.38485805T>GCA405653987RYR1c.5150T>G (p.Ile1717Ser)
c.5147T>G (p.Ile1716Ser)
n.5233T>G
 ClinVar dbSNP gnomAD v4
19g.38485805T=CA2335046248RYR1c.5150T= (p.Ile1717=)
c.5147T= (p.Ile1716=)
n.5233T=
19g.38485806C>ACA507238741RYR1c.5151C>A (p.Ile1717=)
c.5148C>A (p.Ile1716=)
n.5234C>A
19g.38485806C>GCA405653989RYR1c.5151C>G (p.Ile1717Met)
c.5148C>G (p.Ile1716Met)
n.5234C>G
19g.38485806C>TCA507238740RYR1c.5151C>T (p.Ile1717=)
c.5148C>T (p.Ile1716=)
n.5234C>T
 gnomAD v4
19g.38485807C>ACA405653991RYR1c.5152C>A (p.His1718Asn)
c.5149C>A (p.His1717Asn)
n.5235C>A
19g.38485807C>GCA405653993RYR1c.5152C>G (p.His1718Asp)
c.5149C>G (p.His1717Asp)
n.5235C>G
19g.38485807C>TCA405653994RYR1c.5152C>T (p.His1718Tyr)
c.5149C>T (p.His1717Tyr)
n.5235C>T
19g.38485808A=CA2335046249RYR1c.5153A= (p.His1718=)
c.5150A= (p.His1717=)
n.5236A=
19g.38485808A>CCA066701RYR1c.5153A>C (p.His1718Pro)
c.5150A>C (p.His1717Pro)
n.5236A>C
 dbSNP ExAC gnomAD v2
19g.38485808A>GCA405653996RYR1c.5153A>G (p.His1718Arg)
c.5150A>G (p.His1717Arg)
n.5236A>G
19g.38485808A>TCA405653998RYR1c.5153A>T (p.His1718Leu)
c.5150A>T (p.His1717Leu)
n.5236A>T
19g.38485809C>ACA405653999RYR1c.5154C>A (p.His1718Gln)
c.5151C>A (p.His1717Gln)
n.5237C>A
19g.38485809C>GCA405654000RYR1c.5154C>G (p.His1718Gln)
c.5151C>G (p.His1717Gln)
n.5237C>G
19g.38485809C>TCA507353151RYR1c.5154C>T (p.His1718=)
c.5151C>T (p.His1717=)
n.5237C>T
 gnomAD v4
19g.38485810C>ACA066705RYR1c.5155C>A (p.Leu1719Ile)
c.5152C>A (p.Leu1718Ile)
n.5238C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485810C=CA2335046251RYR1c.5155C= (p.Leu1719=)
c.5152C= (p.Leu1718=)
n.5238C=
19g.38485810C>GCA405654002RYR1c.5155C>G (p.Leu1719Val)
c.5152C>G (p.Leu1718Val)
n.5238C>G
19g.38485810C>TCA405654003RYR1c.5155C>T (p.Leu1719Phe)
c.5152C>T (p.Leu1718Phe)
n.5238C>T
19g.38485811T>ACA405654005RYR1c.5156T>A (p.Leu1719His)
c.5153T>A (p.Leu1718His)
n.5239T>A
19g.38485811T>CCA405654006RYR1c.5156T>C (p.Leu1719Pro)
c.5153T>C (p.Leu1718Pro)
n.5239T>C
19g.38485811T>GCA405654007RYR1c.5156T>G (p.Leu1719Arg)
c.5153T>G (p.Leu1718Arg)
n.5239T>G
19g.38485812C>ACA507353155RYR1c.5157C>A (p.Leu1719=)
c.5154C>A (p.Leu1718=)
n.5240C>A
19g.38485812C=CA2335046253RYR1c.5157C= (p.Leu1719=)
c.5154C= (p.Leu1718=)
n.5240C=
19g.38485812C>GCA507353156RYR1c.5157C>G (p.Leu1719=)
c.5154C>G (p.Leu1718=)
n.5240C>G
19g.38485812C>TCA066708RYR1c.5157C>T (p.Leu1719=)
c.5154C>T (p.Leu1718=)
n.5240C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485813G>ACA066711RYR1c.5158G>A (p.Glu1720Lys)
c.5155G>A (p.Glu1719Lys)
n.5241G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485813G>CCA405654009RYR1c.5158G>C (p.Glu1720Gln)
c.5155G>C (p.Glu1719Gln)
n.5241G>C
19g.38485813G=CA2335046254RYR1c.5158G= (p.Glu1720=)
c.5155G= (p.Glu1719=)
n.5241G=
19g.38485813G>TCA405654010RYR1c.5158G>T (p.Glu1720Ter)
c.5155G>T (p.Glu1719Ter)
n.5241G>T
 ClinVar gnomAD v4
19g.38485814A=CA2335046255RYR1c.5159A= (p.Glu1720=)
c.5156A= (p.Glu1719=)
n.5242A=
19g.38485814A>CCA405654011RYR1c.5159A>C (p.Glu1720Ala)
c.5156A>C (p.Glu1719Ala)
n.5242A>C
19g.38485814A>GCA405654013RYR1c.5159A>G (p.Glu1720Gly)
c.5156A>G (p.Glu1719Gly)
n.5242A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485814A>TCA405654015RYR1c.5159A>T (p.Glu1720Val)
c.5156A>T (p.Glu1719Val)
n.5242A>T
19g.38485815A=CA2335046256RYR1c.5160A= (p.Glu1720=)
c.5157A= (p.Glu1719=)
n.5243A=
19g.38485815A>CCA405654016RYR1c.5160A>C (p.Glu1720Asp)
c.5157A>C (p.Glu1719Asp)
n.5243A>C
19g.38485815A>GCA507353157RYR1c.5160A>G (p.Glu1720=)
c.5157A>G (p.Glu1719=)
n.5243A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38485815A>TCA405654017RYR1c.5160A>T (p.Glu1720Asp)
c.5157A>T (p.Glu1719Asp)
n.5243A>T
19g.38485816A>CCA405654018RYR1c.5161A>C (p.Ser1721Arg)
c.5158A>C (p.Ser1720Arg)
n.5244A>C
19g.38485816A>GCA405654019RYR1c.5161A>G (p.Ser1721Gly)
c.5158A>G (p.Ser1720Gly)
n.5244A>G
19g.38485816A>TCA405654020RYR1c.5161A>T (p.Ser1721Cys)
c.5158A>T (p.Ser1720Cys)
n.5244A>T
19g.38485817G>ACA405654021RYR1c.5162G>A (p.Ser1721Asn)
c.5159G>A (p.Ser1720Asn)
n.5245G>A
 gnomAD v4
19g.38485817G>CCA405654023RYR1c.5162G>C (p.Ser1721Thr)
c.5159G>C (p.Ser1720Thr)
n.5245G>C
 gnomAD v4
19g.38485817G>TCA405654025RYR1c.5162G>T (p.Ser1721Ile)
c.5159G>T (p.Ser1720Ile)
n.5245G>T
19g.38485818T>ACA405654027RYR1c.5163T>A (p.Ser1721Arg)
c.5160T>A (p.Ser1720Arg)
n.5246T>A
19g.38485818T>CCA507353159RYR1c.5163T>C (p.Ser1721=)
c.5160T>C (p.Ser1720=)
n.5246T>C
 dbSNP gnomAD v4
19g.38485818T>GCA405654026RYR1c.5163T>G (p.Ser1721Arg)
c.5160T>G (p.Ser1720Arg)
n.5246T>G
19g.38485818T=CA2335046257RYR1c.5163T= (p.Ser1721=)
c.5160T= (p.Ser1720=)
n.5246T=
19g.38485819G>ACA405654028RYR1c.5164G>A (p.Ala1722Thr)
c.5161G>A (p.Ala1721Thr)
n.5247G>A
 ClinVar
19g.38485819G>CCA405654029RYR1c.5164G>C (p.Ala1722Pro)
c.5161G>C (p.Ala1721Pro)
n.5247G>C
 dbSNP
19g.38485819G=CA2335046258RYR1c.5164G= (p.Ala1722=)
c.5161G= (p.Ala1721=)
n.5247G=
19g.38485819G>TCA405654031RYR1c.5164G>T (p.Ala1722Ser)
c.5161G>T (p.Ala1721Ser)
n.5247G>T
19g.38485820C>ACA405654032RYR1c.5165C>A (p.Ala1722Asp)
c.5162C>A (p.Ala1721Asp)
n.5248C>A
19g.38485820C>GCA405654033RYR1c.5165C>G (p.Ala1722Gly)
c.5162C>G (p.Ala1721Gly)
n.5248C>G
19g.38485820C>TCA405654035RYR1c.5165C>T (p.Ala1722Val)
c.5162C>T (p.Ala1721Val)
n.5248C>T
19g.38485821C>ACA507353163RYR1c.5166C>A (p.Ala1722=)
c.5163C>A (p.Ala1721=)
n.5249C>A
19g.38485821C=CA2335046259RYR1c.5166C= (p.Ala1722=)
c.5163C= (p.Ala1721=)
n.5249C=
19g.38485821C>GCA507353164RYR1c.5166C>G (p.Ala1722=)
c.5163C>G (p.Ala1721=)
n.5249C>G
19g.38485821C>TCA507353165RYR1c.5166C>T (p.Ala1722=)
c.5163C>T (p.Ala1721=)
n.5249C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485822T>ACA405654036RYR1c.5167T>A (p.Cys1723Ser)
c.5164T>A (p.Cys1722Ser)
n.5250T>A
19g.38485822T>CCA405654037RYR1c.5167T>C (p.Cys1723Arg)
c.5164T>C (p.Cys1722Arg)
n.5250T>C
19g.38485822T>GCA405654039RYR1c.5167T>G (p.Cys1723Gly)
c.5164T>G (p.Cys1722Gly)
n.5250T>G
19g.38485823G>ACA405654041RYR1c.5168G>A (p.Cys1723Tyr)
c.5165G>A (p.Cys1722Tyr)
n.5251G>A
19g.38485823G>CCA405654042RYR1c.5168G>C (p.Cys1723Ser)
c.5165G>C (p.Cys1722Ser)
n.5251G>C
19g.38485823G>TCA405654043RYR1c.5168G>T (p.Cys1723Phe)
c.5165G>T (p.Cys1722Phe)
n.5251G>T
19g.38485824C>ACA405654044RYR1c.5169C>A (p.Cys1723Ter)
c.5166C>A (p.Cys1722Ter)
n.5252C>A
19g.38485824C>GCA405654045RYR1c.5169C>G (p.Cys1723Trp)
c.5166C>G (p.Cys1722Trp)
n.5252C>G
19g.38485824C>TCA507353166RYR1c.5169C>T (p.Cys1723=)
c.5166C>T (p.Cys1722=)
n.5252C>T
19g.38485825C>ACA405654049RYR1c.5170C>A (p.Arg1724Ser)
c.5167C>A (p.Arg1723Ser)
n.5253C>A
19g.38485825C=CA2335046260RYR1c.5170C= (p.Arg1724=)
c.5167C= (p.Arg1723=)
n.5253C=
19g.38485825C>GCA405654048RYR1c.5170C>G (p.Arg1724Gly)
c.5167C>G (p.Arg1723Gly)
n.5253C>G
 ClinVar gnomAD v4
19g.38485825C>TCA066721RYR1c.5170C>T (p.Arg1724Cys)
c.5167C>T (p.Arg1723Cys)
n.5253C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485826G>ACA066725RYR1c.5171G>A (p.Arg1724His)
c.5168G>A (p.Arg1723His)
n.5254G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485826G>CCA405654051RYR1c.5171G>C (p.Arg1724Pro)
c.5168G>C (p.Arg1723Pro)
n.5254G>C
19g.38485826G=CA2335046261RYR1c.5171G= (p.Arg1724=)
c.5168G= (p.Arg1723=)
n.5254G=
19g.38485826G>TCA405654053RYR1c.5171G>T (p.Arg1724Leu)
c.5168G>T (p.Arg1723Leu)
n.5254G>T
19g.38485827C>ACA507353170RYR1c.5172C>A (p.Arg1724=)
c.5169C>A (p.Arg1723=)
n.5255C>A
19g.38485827C=CA2335046262RYR1c.5172C= (p.Arg1724=)
c.5169C= (p.Arg1723=)
n.5255C=
19g.38485827C>GCA507353171RYR1c.5172C>G (p.Arg1724=)
c.5169C>G (p.Arg1723=)
n.5255C>G
19g.38485827C>TCA507353172RYR1c.5172C>T (p.Arg1724=)
c.5169C>T (p.Arg1723=)
n.5255C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38485828A>CCA405654054RYR1c.5173A>C (p.Ser1725Arg)
c.5170A>C (p.Ser1724Arg)
n.5256A>C
 gnomAD v4
19g.38485828A>GCA405654057RYR1c.5173A>G (p.Ser1725Gly)
c.5170A>G (p.Ser1724Gly)
n.5256A>G
19g.38485828A>TCA405654056RYR1c.5173A>T (p.Ser1725Cys)
c.5170A>T (p.Ser1724Cys)
n.5256A>T
 dbSNP
19g.38485829G>ACA081723RYR1c.5174G>A (p.Ser1725Asn)
c.5171G>A (p.Ser1724Asn)
n.5257G>A
19g.38485829G>CCA405654059RYR1c.5174G>C (p.Ser1725Thr)
c.5171G>C (p.Ser1724Thr)
n.5257G>C
 dbSNP
19g.38485829G>TCA405654061RYR1c.5174G>T (p.Ser1725Ile)
c.5171G>T (p.Ser1724Ile)
n.5257G>T
 gnomAD v4
19g.38485834_38485836delCA2584898017RYR1c.5179_5181del (p.Arg1727del)
c.5176_5178del (p.Arg1726del)
n.5262_5264del
 gnomAD v4
19g.38485830C>ACA066728RYR1c.5175C>A (p.Ser1725Arg)
c.5172C>A (p.Ser1724Arg)
n.5258C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485830C=CA2335046263RYR1c.5175C= (p.Ser1725=)
c.5172C= (p.Ser1724=)
n.5258C=
19g.38485830C>GCA405654063RYR1c.5175C>G (p.Ser1725Arg)
c.5172C>G (p.Ser1724Arg)
n.5258C>G
19g.38485830C>TCA507353174RYR1c.5175C>T (p.Ser1725=)
c.5172C>T (p.Ser1724=)
n.5258C>T
19g.38485831C>ACA405654065RYR1c.5176C>A (p.Arg1726Ser)
c.5173C>A (p.Arg1725Ser)
n.5259C>A
19g.38485831C=CA2335046264RYR1c.5176C= (p.Arg1726=)
c.5173C= (p.Arg1725=)
n.5259C=
19g.38485831C>GCA405654067RYR1c.5176C>G (p.Arg1726Gly)
c.5173C>G (p.Arg1725Gly)
n.5259C>G
19g.38485831C>TCA405654069RYR1c.5176C>T (p.Arg1726Cys)
c.5173C>T (p.Arg1725Cys)
n.5259C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38485832G>ACA405654070RYR1c.5177G>A (p.Arg1726His)
c.5174G>A (p.Arg1725His)
n.5260G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38485832G>CCA405654071RYR1c.5177G>C (p.Arg1726Pro)
c.5174G>C (p.Arg1725Pro)
n.5260G>C
19g.38485832G=CA2335046265RYR1c.5177G= (p.Arg1726=)
c.5174G= (p.Arg1725=)
n.5260G=
19g.38485832G>TCA405654072RYR1c.5177G>T (p.Arg1726Leu)
c.5174G>T (p.Arg1725Leu)
n.5260G>T
 gnomAD v4
19g.38485833C>ACA081724RYR1c.5178C>A (p.Arg1726=)
c.5175C>A (p.Arg1725=)
n.5261C>A
19g.38485833C=CA2335046266RYR1c.5178C= (p.Arg1726=)
c.5175C= (p.Arg1725=)
n.5261C=
19g.38485833C>GCA507353176RYR1c.5178C>G (p.Arg1726=)
c.5175C>G (p.Arg1725=)
n.5261C>G
19g.38485833C>TCA308093281RYR1c.5178C>T (p.Arg1726=)
c.5175C>T (p.Arg1725=)
n.5261C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485834C>ACA405654075RYR1c.5179C>A (p.Arg1727Ser)
c.5176C>A (p.Arg1726Ser)
n.5262C>A
19g.38485834C=CA2335046267RYR1c.5179C= (p.Arg1727=)
c.5176C= (p.Arg1726=)
n.5262C=
19g.38485834C>GCA405654077RYR1c.5179C>G (p.Arg1727Gly)
c.5176C>G (p.Arg1726Gly)
n.5262C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485834C>TCA066734RYR1c.5179C>T (p.Arg1727Cys)
c.5176C>T (p.Arg1726Cys)
n.5262C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485835G>ACA066738RYR1c.5180G>A (p.Arg1727His)
c.5177G>A (p.Arg1726His)
n.5263G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485835G>CCA405654079RYR1c.5180G>C (p.Arg1727Pro)
c.5177G>C (p.Arg1726Pro)
n.5263G>C
19g.38485835G=CA2335046268RYR1c.5180G= (p.Arg1727=)
c.5177G= (p.Arg1726=)
n.5263G=
19g.38485835G>TCA405654081RYR1c.5180G>T (p.Arg1727Leu)
c.5177G>T (p.Arg1726Leu)
n.5263G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485836C>ACA507353178RYR1c.5181C>A (p.Arg1727=)
c.5178C>A (p.Arg1726=)
n.5264C>A
19g.38485836C=CA2335046269RYR1c.5181C= (p.Arg1727=)
c.5178C= (p.Arg1726=)
n.5264C=
19g.38485836C>GCA507353181RYR1c.5181C>G (p.Arg1727=)
c.5178C>G (p.Arg1726=)
n.5264C>G
19g.38485836C>TCA507353182RYR1c.5181C>T (p.Arg1727=)
c.5178C>T (p.Arg1726=)
n.5264C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38485837T>ACA405654084RYR1c.5182T>A (p.Ser1728Thr)
c.5179T>A (p.Ser1727Thr)
n.5265T>A
19g.38485837T>CCA024493RYR1c.5182T>C (p.Ser1728Pro)
c.5179T>C (p.Ser1727Pro)
n.5265T>C
 ClinVar dbSNP
19g.38485837T>GCA405654085RYR1c.5182T>G (p.Ser1728Ala)
c.5179T>G (p.Ser1727Ala)
n.5265T>G
19g.38485837T=CA2335046270RYR1c.5182T= (p.Ser1728=)
c.5179T= (p.Ser1727=)
n.5265T=
19g.38485838C>ACA405654086RYR1c.5183C>A (p.Ser1728Tyr)
c.5180C>A (p.Ser1727Tyr)
n.5266C>A
19g.38485838C=CA2335046271RYR1c.5183C= (p.Ser1728=)
c.5180C= (p.Ser1727=)
n.5266C=
19g.38485838C>GCA405654087RYR1c.5183C>G (p.Ser1728Cys)
c.5180C>G (p.Ser1727Cys)
n.5266C>G
19g.38485838C>TCA024494RYR1c.5183C>T (p.Ser1728Phe)
c.5180C>T (p.Ser1727Phe)
n.5266C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485839C>ACA507353189RYR1c.5184C>A (p.Ser1728=)
c.5181C>A (p.Ser1727=)
n.5267C>A
19g.38485839C>GCA507353190RYR1c.5184C>G (p.Ser1728=)
c.5181C>G (p.Ser1727=)
n.5267C>G
19g.38485839C>TCA507353191RYR1c.5184C>T (p.Ser1728=)
c.5181C>T (p.Ser1727=)
n.5267C>T
19g.38485840A>CCA405654091RYR1c.5185A>C (p.Met1729Leu)
c.5182A>C (p.Met1728Leu)
n.5268A>C
19g.38485840A>GCA405654092RYR1c.5185A>G (p.Met1729Val)
c.5182A>G (p.Met1728Val)
n.5268A>G
19g.38485840A>TCA405654089RYR1c.5185A>T (p.Met1729Leu)
c.5182A>T (p.Met1728Leu)
n.5268A>T
19g.38485841T>ACA405654093RYR1c.5186T>A (p.Met1729Lys)
c.5183T>A (p.Met1728Lys)
n.5269T>A
19g.38485841T>CCA405654094RYR1c.5186T>C (p.Met1729Thr)
c.5183T>C (p.Met1728Thr)
n.5269T>C
 gnomAD v4
19g.38485841T>GCA024497RYR1c.5186T>G (p.Met1729Arg)
c.5183T>G (p.Met1728Arg)
n.5269T>G
 ClinVar dbSNP gnomAD v4
19g.38485841T=CA2335046272RYR1c.5186T= (p.Met1729=)
c.5183T= (p.Met1728=)
n.5269T=
19g.38485842G>ACA405654097RYR1c.5187G>A (p.Met1729Ile)
c.5184G>A (p.Met1728Ile)
n.5270G>A
19g.38485842G>CCA405654098RYR1c.5187G>C (p.Met1729Ile)
c.5184G>C (p.Met1728Ile)
n.5270G>C
19g.38485842G>TCA405654100RYR1c.5187G>T (p.Met1729Ile)
c.5184G>T (p.Met1728Ile)
n.5270G>T
 gnomAD v4
19g.38485843C>ACA405654102RYR1c.5188C>A (p.Leu1730Ile)
c.5185C>A (p.Leu1729Ile)
n.5271C>A
19g.38485843C>GCA405654105RYR1c.5188C>G (p.Leu1730Val)
c.5185C>G (p.Leu1729Val)
n.5271C>G
19g.38485843C>TCA405654103RYR1c.5188C>T (p.Leu1730Phe)
c.5185C>T (p.Leu1729Phe)
n.5271C>T
19g.38485847_38485848delCA2584898018RYR1c.5192_5193del (p.Ser1731Ter)
c.5189_5190del (p.Ser1730Ter)
n.5275_5276del
 gnomAD v4
19g.38485844T>ACA405654106RYR1c.5189T>A (p.Leu1730His)
c.5186T>A (p.Leu1729His)
n.5272T>A
19g.38485844T>CCA405654108RYR1c.5189T>C (p.Leu1730Pro)
c.5186T>C (p.Leu1729Pro)
n.5272T>C
 ClinVar
19g.38485844T>GCA405654109RYR1c.5189T>G (p.Leu1730Arg)
c.5186T>G (p.Leu1729Arg)
n.5272T>G
19g.38485845C>ACA507353198RYR1c.5190C>A (p.Leu1730=)
c.5187C>A (p.Leu1729=)
n.5273C>A
19g.38485845C=CA2335046273RYR1c.5190C= (p.Leu1730=)
c.5187C= (p.Leu1729=)
n.5273C=
19g.38485845C>GCA066746RYR1c.5190C>G (p.Leu1730=)
c.5187C>G (p.Leu1729=)
n.5273C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485845C>TCA507353199RYR1c.5190C>T (p.Leu1730=)
c.5187C>T (p.Leu1729=)
n.5273C>T
19g.38485846T>ACA405654111RYR1c.5191T>A (p.Ser1731Thr)
c.5188T>A (p.Ser1730Thr)
n.5274T>A
19g.38485846T>CCA405654114RYR1c.5191T>C (p.Ser1731Pro)
c.5188T>C (p.Ser1730Pro)
n.5274T>C
19g.38485846T>GCA405654113RYR1c.5191T>G (p.Ser1731Ala)
c.5188T>G (p.Ser1730Ala)
n.5274T>G
19g.38485847C>ACA405654115RYR1c.5192C>A (p.Ser1731Tyr)
c.5189C>A (p.Ser1730Tyr)
n.5275C>A
19g.38485847C>GCA405654117RYR1c.5192C>G (p.Ser1731Cys)
c.5189C>G (p.Ser1730Cys)
n.5275C>G
19g.38485847C>TCA405654118RYR1c.5192C>T (p.Ser1731Phe)
c.5189C>T (p.Ser1730Phe)
n.5275C>T
19g.38485848T>ACA507353204RYR1c.5193T>A (p.Ser1731=)
c.5190T>A (p.Ser1730=)
n.5276T>A
19g.38485848T>CCA066750RYR1c.5193T>C (p.Ser1731=)
c.5190T>C (p.Ser1730=)
n.5276T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485848T>GCA507353205RYR1c.5193T>G (p.Ser1731=)
c.5190T>G (p.Ser1730=)
n.5276T>G
19g.38485848T=CA2335046274RYR1c.5193T= (p.Ser1731=)
c.5190T= (p.Ser1730=)
n.5276T=
19g.38485849G>ACA405654121RYR1c.5194G>A (p.Glu1732Lys)
c.5191G>A (p.Glu1731Lys)
n.5277G>A
 COSMIC
19g.38485849G>CCA066755RYR1c.5194G>C (p.Glu1732Gln)
c.5191G>C (p.Glu1731Gln)
n.5277G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485849G=CA2335046275RYR1c.5194G= (p.Glu1732=)
c.5191G= (p.Glu1731=)
n.5277G=
19g.38485849G>TCA405654122RYR1c.5194G>T (p.Glu1732Ter)
c.5191G>T (p.Glu1731Ter)
n.5277G>T
19g.38485850A=CA2335046276RYR1c.5195A= (p.Glu1732=)
c.5192A= (p.Glu1731=)
n.5278A=
19g.38485850A>CCA405654124RYR1c.5195A>C (p.Glu1732Ala)
c.5192A>C (p.Glu1731Ala)
n.5278A>C
 ClinVar dbSNP
19g.38485850A>GCA405654125RYR1c.5195A>G (p.Glu1732Gly)
c.5192A>G (p.Glu1731Gly)
n.5278A>G
19g.38485850A>TCA405654127RYR1c.5195A>T (p.Glu1732Val)
c.5192A>T (p.Glu1731Val)
n.5278A>T
19g.38485851A>CCA405654128RYR1c.5196A>C (p.Glu1732Asp)
c.5193A>C (p.Glu1731Asp)
n.5279A>C
19g.38485851A>GCA507353211RYR1c.5196A>G (p.Glu1732=)
c.5193A>G (p.Glu1731=)
n.5279A>G
19g.38485851A>TCA405654130RYR1c.5196A>T (p.Glu1732Asp)
c.5193A>T (p.Glu1731Asp)
n.5279A>T
 ClinVar dbSNP
19g.38485852T>ACA066758RYR1c.5197T>A (p.Tyr1733Asn)
c.5194T>A (p.Tyr1732Asn)
n.5280T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485852T>CCA405654134RYR1c.5197T>C (p.Tyr1733His)
c.5194T>C (p.Tyr1732His)
n.5280T>C
19g.38485852T>GCA405654132RYR1c.5197T>G (p.Tyr1733Asp)
c.5194T>G (p.Tyr1732Asp)
n.5280T>G
 gnomAD v4
19g.38485852T=CA2335046277RYR1c.5197T= (p.Tyr1733=)
c.5194T= (p.Tyr1732=)
n.5280T=
19g.38485853A=CA2335046278RYR1c.5198A= (p.Tyr1733=)
c.5195A= (p.Tyr1732=)
n.5281A=
19g.38485853A>CCA066760RYR1c.5198A>C (p.Tyr1733Ser)
c.5195A>C (p.Tyr1732Ser)
n.5281A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485853A>GCA405654136RYR1c.5198A>G (p.Tyr1733Cys)
c.5195A>G (p.Tyr1732Cys)
n.5281A>G
19g.38485853A>TCA405654137RYR1c.5198A>T (p.Tyr1733Phe)
c.5195A>T (p.Tyr1732Phe)
n.5281A>T
19g.38485854C>ACA405654138RYR1c.5199C>A (p.Tyr1733Ter)
c.5196C>A (p.Tyr1732Ter)
n.5282C>A
19g.38485854C=CA2335046279RYR1c.5199C= (p.Tyr1733=)
c.5196C= (p.Tyr1732=)
n.5282C=
19g.38485854C>GCA405654139RYR1c.5199C>G (p.Tyr1733Ter)
c.5196C>G (p.Tyr1732Ter)
n.5282C>G
19g.38485854C>TCA066764RYR1c.5199C>T (p.Tyr1733=)
c.5196C>T (p.Tyr1732=)
n.5282C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485855A>CCA405654141RYR1c.5200A>C (p.Ile1734Leu)
c.5197A>C (p.Ile1733Leu)
n.5283A>C
19g.38485855A>GCA405654143RYR1c.5200A>G (p.Ile1734Val)
c.5197A>G (p.Ile1733Val)
n.5283A>G
 gnomAD v4
19g.38485855A>TCA405654145RYR1c.5200A>T (p.Ile1734Phe)
c.5197A>T (p.Ile1733Phe)
n.5283A>T
 gnomAD v4
19g.38485856T>ACA405654146RYR1c.5201T>A (p.Ile1734Asn)
c.5198T>A (p.Ile1733Asn)
n.5284T>A
19g.38485856T>CCA405654148RYR1c.5201T>C (p.Ile1734Thr)
c.5198T>C (p.Ile1733Thr)
n.5284T>C
19g.38485856T>GCA405654150RYR1c.5201T>G (p.Ile1734Ser)
c.5198T>G (p.Ile1733Ser)
n.5284T>G
19g.38485857C>ACA308093297RYR1c.5202C>A (p.Ile1734=)
c.5199C>A (p.Ile1733=)
n.5285C>A
 ClinVar dbSNP gnomAD v4
19g.38485857C=CA2335046280RYR1c.5202C= (p.Ile1734=)
c.5199C= (p.Ile1733=)
n.5285C=
19g.38485857C>GCA405654151RYR1c.5202C>G (p.Ile1734Met)
c.5199C>G (p.Ile1733Met)
n.5285C>G
19g.38485857C>TCA081732RYR1c.5202C>T (p.Ile1734=)
c.5199C>T (p.Ile1733=)
n.5285C>T
 gnomAD v4 COSMIC
19g.38485858G>ACA405654157RYR1c.5203G>A (p.Val1735Met)
c.5200G>A (p.Val1734Met)
n.5286G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38485858G>CCA405654155RYR1c.5203G>C (p.Val1735Leu)
c.5200G>C (p.Val1734Leu)
n.5286G>C
19g.38485858G=CA2335046281RYR1c.5203G= (p.Val1735=)
c.5200G= (p.Val1734=)
n.5286G=
19g.38485858G>TCA405654153RYR1c.5203G>T (p.Val1735Leu)
c.5200G>T (p.Val1734Leu)
n.5286G>T
 gnomAD v4
19g.38485859T>ACA405654159RYR1c.5204T>A (p.Val1735Glu)
c.5201T>A (p.Val1734Glu)
n.5287T>A
19g.38485859T>CCA405654160RYR1c.5204T>C (p.Val1735Ala)
c.5201T>C (p.Val1734Ala)
n.5287T>C
19g.38485859T>GCA405654161RYR1c.5204T>G (p.Val1735Gly)
c.5201T>G (p.Val1734Gly)
n.5287T>G
19g.38485860G>ACA507353221RYR1c.5205G>A (p.Val1735=)
c.5202G>A (p.Val1734=)
n.5288G>A
 gnomAD v4 COSMIC
19g.38485860G>CCA066769RYR1c.5205G>C (p.Val1735=)
c.5202G>C (p.Val1734=)
n.5288G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485860G=CA2335046282RYR1c.5205G= (p.Val1735=)
c.5202G= (p.Val1734=)
n.5288G=
19g.38485860G>TCA507353223RYR1c.5205G>T (p.Val1735=)
c.5202G>T (p.Val1734=)
n.5288G>T
 ClinVar gnomAD v4
19g.38485861C>ACA405654164RYR1c.5206C>A (p.Pro1736Thr)
c.5203C>A (p.Pro1735Thr)
n.5289C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485861C=CA2335046283RYR1c.5206C= (p.Pro1736=)
c.5203C= (p.Pro1735=)
n.5289C=
19g.38485861C>GCA405654165RYR1c.5206C>G (p.Pro1736Ala)
c.5203C>G (p.Pro1735Ala)
n.5289C>G
 ClinVar
19g.38485861C>TCA066773RYR1c.5206C>T (p.Pro1736Ser)
c.5203C>T (p.Pro1735Ser)
n.5289C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485862C>ACA405654168RYR1c.5207C>A (p.Pro1736His)
c.5204C>A (p.Pro1735His)
n.5290C>A
19g.38485862C>GCA405654170RYR1c.5207C>G (p.Pro1736Arg)
c.5204C>G (p.Pro1735Arg)
n.5290C>G
19g.38485862C>TCA405654171RYR1c.5207C>T (p.Pro1736Leu)
c.5204C>T (p.Pro1735Leu)
n.5290C>T
 ClinVar gnomAD v4
19g.38485863C>ACA507353227RYR1c.5208C>A (p.Pro1736=)
c.5205C>A (p.Pro1735=)
n.5291C>A
 COSMIC
19g.38485863C=CA2335046284RYR1c.5208C= (p.Pro1736=)
c.5205C= (p.Pro1735=)
n.5291C=
19g.38485863C>GCA507353229RYR1c.5208C>G (p.Pro1736=)
c.5205C>G (p.Pro1735=)
n.5291C>G
19g.38485863C>TCA066777RYR1c.5208C>T (p.Pro1736=)
c.5205C>T (p.Pro1735=)
n.5291C>T
 ClinVar dbSNP ExAC gnomAD v4
19g.38485864C>ACA405654172RYR1c.5209C>A (p.Leu1737Ile)
c.5206C>A (p.Leu1736Ile)
n.5292C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38485864C=CA2335046285RYR1c.5209C= (p.Leu1737=)
c.5206C= (p.Leu1736=)
n.5292C=
19g.38485864C>GCA405654173RYR1c.5209C>G (p.Leu1737Val)
c.5206C>G (p.Leu1736Val)
n.5292C>G
19g.38485864C>TCA081734RYR1c.5209C>T (p.Leu1737Phe)
c.5206C>T (p.Leu1736Phe)
n.5292C>T
19g.38485865T>ACA405654177RYR1c.5210T>A (p.Leu1737His)
c.5207T>A (p.Leu1736His)
n.5293T>A
19g.38485865T>CCA405654179RYR1c.5210T>C (p.Leu1737Pro)
c.5207T>C (p.Leu1736Pro)
n.5293T>C
19g.38485865T>GCA405654176RYR1c.5210T>G (p.Leu1737Arg)
c.5207T>G (p.Leu1736Arg)
n.5293T>G
19g.38485866C>ACA507353237RYR1c.5211C>A (p.Leu1737=)
c.5208C>A (p.Leu1736=)
n.5294C>A
19g.38485866C>GCA507353234RYR1c.5211C>G (p.Leu1737=)
c.5208C>G (p.Leu1736=)
n.5294C>G
19g.38485866C>TCA081735RYR1c.5211C>T (p.Leu1737=)
c.5208C>T (p.Leu1736=)
n.5294C>T
 gnomAD v4
19g.38485867delCA2584898019RYR1c.5212del (p.Thr1738ArgfsTer?)
c.5209del (p.Thr1737ArgfsTer?)
n.5295del
 gnomAD v4
19g.38485867A>CCA405654181RYR1c.5212A>C (p.Thr1738Pro)
c.5209A>C (p.Thr1737Pro)
n.5295A>C
19g.38485867A>GCA405654183RYR1c.5212A>G (p.Thr1738Ala)
c.5209A>G (p.Thr1737Ala)
n.5295A>G
19g.38485867A>TCA405654184RYR1c.5212A>T (p.Thr1738Ser)
c.5209A>T (p.Thr1737Ser)
n.5295A>T
19g.38485868C>ACA405654185RYR1c.5213C>A (p.Thr1738Lys)
c.5210C>A (p.Thr1737Lys)
n.5296C>A
19g.38485868C=CA2335046286RYR1c.5213C= (p.Thr1738=)
c.5210C= (p.Thr1737=)
n.5296C=
19g.38485868C>GCA405654186RYR1c.5213C>G (p.Thr1738Arg)
c.5210C>G (p.Thr1737Arg)
n.5296C>G
19g.38485868C>TCA405654188RYR1c.5213C>T (p.Thr1738Met)
c.5210C>T (p.Thr1737Met)
n.5296C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485869G>ACA507353241RYR1c.5214G>A (p.Thr1738=)
c.5211G>A (p.Thr1737=)
n.5297G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38485869G>CCA507353243RYR1c.5214G>C (p.Thr1738=)
c.5211G>C (p.Thr1737=)
n.5297G>C
19g.38485869G=CA2335046287RYR1c.5214G= (p.Thr1738=)
c.5211G= (p.Thr1737=)
n.5297G=
19g.38485869G>TCA507353245RYR1c.5214G>T (p.Thr1738=)
c.5211G>T (p.Thr1737=)
n.5297G>T
19g.38485870C>ACA405654190RYR1c.5215C>A (p.Pro1739Thr)
c.5212C>A (p.Pro1738Thr)
n.5298C>A
19g.38485870C=CA2335046288RYR1c.5215C= (p.Pro1739=)
c.5212C= (p.Pro1738=)
n.5298C=
19g.38485870C>GCA405654191RYR1c.5215C>G (p.Pro1739Ala)
c.5212C>G (p.Pro1738Ala)
n.5298C>G
19g.38485870C>TCA405654192RYR1c.5215C>T (p.Pro1739Ser)
c.5212C>T (p.Pro1738Ser)
n.5298C>T
 dbSNP gnomAD v4
19g.38485871C>ACA405654194RYR1c.5216C>A (p.Pro1739His)
c.5213C>A (p.Pro1738His)
n.5299C>A
19g.38485871C>GCA405654196RYR1c.5216C>G (p.Pro1739Arg)
c.5213C>G (p.Pro1738Arg)
n.5299C>G
19g.38485871C>TCA405654197RYR1c.5216C>T (p.Pro1739Leu)
c.5213C>T (p.Pro1738Leu)
n.5299C>T
19g.38485872T>ACA507353249RYR1c.5217T>A (p.Pro1739=)
c.5214T>A (p.Pro1738=)
n.5300T>A
19g.38485872T>CCA507353251RYR1c.5217T>C (p.Pro1739=)
c.5214T>C (p.Pro1738=)
n.5300T>C
19g.38485872T>GCA507353253RYR1c.5217T>G (p.Pro1739=)
c.5214T>G (p.Pro1738=)
n.5300T>G
19g.38485873G>ACA405654200RYR1c.5218G>A (p.Glu1740Lys)
c.5215G>A (p.Glu1739Lys)
n.5301G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38485873G>CCA405654202RYR1c.5218G>C (p.Glu1740Gln)
c.5215G>C (p.Glu1739Gln)
n.5301G>C
19g.38485873G=CA2335046289RYR1c.5218G= (p.Glu1740=)
c.5215G= (p.Glu1739=)
n.5301G=
19g.38485873G>TCA405654199RYR1c.5218G>T (p.Glu1740Ter)
c.5215G>T (p.Glu1739Ter)
n.5301G>T
 ClinVar dbSNP
19g.38485874A>CCA405654203RYR1c.5219A>C (p.Glu1740Ala)
c.5216A>C (p.Glu1739Ala)
n.5302A>C
19g.38485874A>GCA405654205RYR1c.5219A>G (p.Glu1740Gly)
c.5216A>G (p.Glu1739Gly)
n.5302A>G
19g.38485874A>TCA405654207RYR1c.5219A>T (p.Glu1740Val)
c.5216A>T (p.Glu1739Val)
n.5302A>T
19g.38485875G>ACA507353258RYR1c.5220G>A (p.Glu1740=)
c.5217G>A (p.Glu1739=)
n.5303G>A
19g.38485875G>CCA405654208RYR1c.5220G>C (p.Glu1740Asp)
c.5217G>C (p.Glu1739Asp)
n.5303G>C
19g.38485875G>TCA405654209RYR1c.5220G>T (p.Glu1740Asp)
c.5217G>T (p.Glu1739Asp)
n.5303G>T
 gnomAD v4
19g.38485876A>CCA405654214RYR1c.5221A>C (p.Thr1741Pro)
c.5218A>C (p.Thr1740Pro)
n.5304A>C
19g.38485876A>GCA405654211RYR1c.5221A>G (p.Thr1741Ala)
c.5218A>G (p.Thr1740Ala)
n.5304A>G
19g.38485876A>TCA405654213RYR1c.5221A>T (p.Thr1741Ser)
c.5218A>T (p.Thr1740Ser)
n.5304A>T
19g.38485877C>ACA405654216RYR1c.5222C>A (p.Thr1741Asn)
c.5219C>A (p.Thr1740Asn)
n.5305C>A
19g.38485877C=CA2335046290RYR1c.5222C= (p.Thr1741=)
c.5219C= (p.Thr1740=)
n.5305C=
19g.38485877C>GCA308093321RYR1c.5222C>G (p.Thr1741Ser)
c.5219C>G (p.Thr1740Ser)
n.5305C>G
 dbSNP
19g.38485877C>TCA405654218RYR1c.5222C>T (p.Thr1741Ile)
c.5219C>T (p.Thr1740Ile)
n.5305C>T
 ClinVar
19g.38485878C>ACA507353262RYR1c.5223C>A (p.Thr1741=)
c.5220C>A (p.Thr1740=)
n.5306C>A
 dbSNP gnomAD v4
19g.38485878C=CA2335046291RYR1c.5223C= (p.Thr1741=)
c.5220C= (p.Thr1740=)
n.5306C=
19g.38485878C>GCA507353264RYR1c.5223C>G (p.Thr1741=)
c.5220C>G (p.Thr1740=)
n.5306C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485878C>TCA507353266RYR1c.5223C>T (p.Thr1741=)
c.5220C>T (p.Thr1740=)
n.5306C>T
19g.38485879C>ACA405654220RYR1c.5224C>A (p.Arg1742Ser)
c.5221C>A (p.Arg1741Ser)
n.5307C>A
19g.38485879C=CA2335046292RYR1c.5224C= (p.Arg1742=)
c.5221C= (p.Arg1741=)
n.5307C=
19g.38485879C>GCA405654222RYR1c.5224C>G (p.Arg1742Gly)
c.5221C>G (p.Arg1741Gly)
n.5307C>G
19g.38485879C>TCA405654223RYR1c.5224C>T (p.Arg1742Cys)
c.5221C>T (p.Arg1741Cys)
n.5307C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38485880G>ACA066779RYR1c.5225G>A (p.Arg1742His)
c.5222G>A (p.Arg1741His)
n.5308G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485880G>CCA405654227RYR1c.5225G>C (p.Arg1742Pro)
c.5222G>C (p.Arg1741Pro)
n.5308G>C
 gnomAD v4
19g.38485880G=CA2335046293RYR1c.5225G= (p.Arg1742=)
c.5222G= (p.Arg1741=)
n.5308G=
19g.38485880G>TCA405654225RYR1c.5225G>T (p.Arg1742Leu)
c.5222G>T (p.Arg1741Leu)
n.5308G>T
19g.38485881C>ACA507353269RYR1c.5226C>A (p.Arg1742=)
c.5223C>A (p.Arg1741=)
n.5309C>A
19g.38485881C=CA2335046294RYR1c.5226C= (p.Arg1742=)
c.5223C= (p.Arg1741=)
n.5309C=
19g.38485881C>GCA507353270RYR1c.5226C>G (p.Arg1742=)
c.5223C>G (p.Arg1741=)
n.5309C>G
19g.38485881C>TCA066782RYR1c.5226C>T (p.Arg1742=)
c.5223C>T (p.Arg1741=)
n.5309C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485882G>ACA405654230RYR1c.5227G>A (p.Ala1743Thr)
c.5224G>A (p.Ala1742Thr)
n.5310G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485882G>CCA405654229RYR1c.5227G>C (p.Ala1743Pro)
c.5224G>C (p.Ala1742Pro)
n.5310G>C
19g.38485882G=CA2335046295RYR1c.5227G= (p.Ala1743=)
c.5224G= (p.Ala1742=)
n.5310G=
19g.38485882G>TCA405654232RYR1c.5227G>T (p.Ala1743Ser)
c.5224G>T (p.Ala1742Ser)
n.5310G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485883C>ACA405654234RYR1c.5228C>A (p.Ala1743Asp)
c.5225C>A (p.Ala1742Asp)
n.5311C>A
19g.38485883C>GCA405654235RYR1c.5228C>G (p.Ala1743Gly)
c.5225C>G (p.Ala1742Gly)
n.5311C>G
 gnomAD v4
19g.38485883C>TCA405654237RYR1c.5228C>T (p.Ala1743Val)
c.5225C>T (p.Ala1742Val)
n.5311C>T
19g.38485884C>ACA507353274RYR1c.5229C>A (p.Ala1743=)
c.5226C>A (p.Ala1742=)
n.5312C>A
19g.38485884C>GCA507353276RYR1c.5229C>G (p.Ala1743=)
c.5226C>G (p.Ala1742=)
n.5312C>G
19g.38485884C>TCA081737RYR1c.5229C>T (p.Ala1743=)
c.5226C>T (p.Ala1742=)
n.5312C>T
19g.38485885A>CCA405654239RYR1c.5230A>C (p.Ile1744Leu)
c.5227A>C (p.Ile1743Leu)
n.5313A>C
19g.38485885A>GCA405654241RYR1c.5230A>G (p.Ile1744Val)
c.5227A>G (p.Ile1743Val)
n.5313A>G
 ClinVar dbSNP gnomAD v4
19g.38485885A>TCA405654242RYR1c.5230A>T (p.Ile1744Phe)
c.5227A>T (p.Ile1743Phe)
n.5313A>T
19g.38485886T>ACA405654245RYR1c.5231T>A (p.Ile1744Asn)
c.5228T>A (p.Ile1743Asn)
n.5314T>A
19g.38485886T>CCA405654246RYR1c.5231T>C (p.Ile1744Thr)
c.5228T>C (p.Ile1743Thr)
n.5314T>C
 gnomAD v4
19g.38485886T>GCA405654247RYR1c.5231T>G (p.Ile1744Ser)
c.5228T>G (p.Ile1743Ser)
n.5314T>G
19g.38485887C>ACA507353278RYR1c.5232C>A (p.Ile1744=)
c.5229C>A (p.Ile1743=)
n.5315C>A
19g.38485887C=CA2335046296RYR1c.5232C= (p.Ile1744=)
c.5229C= (p.Ile1743=)
n.5315C=
19g.38485887C>GCA405654249RYR1c.5232C>G (p.Ile1744Met)
c.5229C>G (p.Ile1743Met)
n.5315C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485887C>TCA507353279RYR1c.5232C>T (p.Ile1744=)
c.5229C>T (p.Ile1743=)
n.5315C>T
 ClinVar gnomAD v4
19g.38485888A>CCA405654250RYR1c.5233A>C (p.Thr1745Pro)
c.5230A>C (p.Thr1744Pro)
n.5316A>C
19g.38485888A>GCA405654253RYR1c.5233A>G (p.Thr1745Ala)
c.5230A>G (p.Thr1744Ala)
n.5316A>G
19g.38485888A>TCA405654254RYR1c.5233A>T (p.Thr1745Ser)
c.5230A>T (p.Thr1744Ser)
n.5316A>T
19g.38485889C>ACA405654255RYR1c.5234C>A (p.Thr1745Lys)
c.5231C>A (p.Thr1744Lys)
n.5317C>A
19g.38485889C=CA2335046297RYR1c.5234C= (p.Thr1745=)
c.5231C= (p.Thr1744=)
n.5317C=
19g.38485889C>GCA024499RYR1c.5234C>G (p.Thr1745Arg)
c.5231C>G (p.Thr1744Arg)
n.5317C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485889C>TCA066786RYR1c.5234C>T (p.Thr1745Met)
c.5231C>T (p.Thr1744Met)
n.5317C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485890G>ACA066790RYR1c.5235G>A (p.Thr1745=)
c.5232G>A (p.Thr1744=)
n.5318G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485890G>CCA507353280RYR1c.5235G>C (p.Thr1745=)
c.5232G>C (p.Thr1744=)
n.5318G>C
19g.38485890G=CA2335046298RYR1c.5235G= (p.Thr1745=)
c.5232G= (p.Thr1744=)
n.5318G=
19g.38485890G>TCA507353282RYR1c.5235G>T (p.Thr1745=)
c.5232G>T (p.Thr1744=)
n.5318G>T
19g.38485891C>ACA405654256RYR1c.5236C>A (p.Leu1746Ile)
c.5233C>A (p.Leu1745Ile)
n.5319C>A
19g.38485891C=CA2335046299RYR1c.5236C= (p.Leu1746=)
c.5233C= (p.Leu1745=)
n.5319C=
19g.38485891C>GCA405654257RYR1c.5236C>G (p.Leu1746Val)
c.5233C>G (p.Leu1745Val)
n.5319C>G
19g.38485891C>TCA066793RYR1c.5236C>T (p.Leu1746Phe)
c.5233C>T (p.Leu1745Phe)
n.5319C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485892T>ACA405654260RYR1c.5237T>A (p.Leu1746His)
c.5234T>A (p.Leu1745His)
n.5320T>A
19g.38485892T>CCA405654262RYR1c.5237T>C (p.Leu1746Pro)
c.5234T>C (p.Leu1745Pro)
n.5320T>C
 gnomAD v4
19g.38485892T>GCA405654263RYR1c.5237T>G (p.Leu1746Arg)
c.5234T>G (p.Leu1745Arg)
n.5320T>G
19g.38485893C>ACA507353284RYR1c.5238C>A (p.Leu1746=)
c.5235C>A (p.Leu1745=)
n.5321C>A
19g.38485893C=CA2335046300RYR1c.5238C= (p.Leu1746=)
c.5235C= (p.Leu1745=)
n.5321C=
19g.38485893C>GCA507353285RYR1c.5238C>G (p.Leu1746=)
c.5235C>G (p.Leu1745=)
n.5321C>G
19g.38485893C>TCA066796RYR1c.5238C>T (p.Leu1746=)
c.5235C>T (p.Leu1745=)
n.5321C>T
 ClinVar dbSNP ExAC
19g.38485894T>ACA405654264RYR1c.5239T>A (p.Phe1747Ile)
c.5236T>A (p.Phe1746Ile)
n.5322T>A
19g.38485894T>CCA405654265RYR1c.5239T>C (p.Phe1747Leu)
c.5236T>C (p.Phe1746Leu)
n.5322T>C
 gnomAD v4
19g.38485894T>GCA405654267RYR1c.5239T>G (p.Phe1747Val)
c.5236T>G (p.Phe1746Val)
n.5322T>G
19g.38485895T>ACA405654270RYR1c.5240T>A (p.Phe1747Tyr)
c.5237T>A (p.Phe1746Tyr)
n.5323T>A
19g.38485895T>CCA405654269RYR1c.5240T>C (p.Phe1747Ser)
c.5237T>C (p.Phe1746Ser)
n.5323T>C
 gnomAD v4
19g.38485895T>GCA405654268RYR1c.5240T>G (p.Phe1747Cys)
c.5237T>G (p.Phe1746Cys)
n.5323T>G
19g.38485896C>ACA405654273RYR1c.5241C>A (p.Phe1747Leu)
c.5238C>A (p.Phe1746Leu)
n.5324C>A
19g.38485896C>GCA405654272RYR1c.5241C>G (p.Phe1747Leu)
c.5238C>G (p.Phe1746Leu)
n.5324C>G
19g.38485896C>TCA081741RYR1c.5241C>T (p.Phe1747=)
c.5238C>T (p.Phe1746=)
n.5324C>T
 gnomAD v4 COSMIC
19g.38485897C>ACA405654275RYR1c.5242C>A (p.Pro1748Thr)
c.5239C>A (p.Pro1747Thr)
n.5325C>A
19g.38485897C>GCA405654276RYR1c.5242C>G (p.Pro1748Ala)
c.5239C>G (p.Pro1747Ala)
n.5325C>G
19g.38485897C>TCA405654278RYR1c.5242C>T (p.Pro1748Ser)
c.5239C>T (p.Pro1747Ser)
n.5325C>T
 ClinVar COSMIC
19g.38485898C>ACA405654280RYR1c.5243C>A (p.Pro1748His)
c.5240C>A (p.Pro1747His)
n.5326C>A
 dbSNP
19g.38485898C=CA2335046301RYR1c.5243C= (p.Pro1748=)
c.5240C= (p.Pro1747=)
n.5326C=
19g.38485898C>GCA405654281RYR1c.5243C>G (p.Pro1748Arg)
c.5240C>G (p.Pro1747Arg)
n.5326C>G
 ClinVar
19g.38485898C>TCA405654283RYR1c.5243C>T (p.Pro1748Leu)
c.5240C>T (p.Pro1747Leu)
n.5326C>T
 dbSNP
19g.38485899T>ACA507353289RYR1c.5244T>A (p.Pro1748=)
c.5241T>A (p.Pro1747=)
n.5327T>A
19g.38485899T>CCA507353290RYR1c.5244T>C (p.Pro1748=)
c.5241T>C (p.Pro1747=)
n.5327T>C
19g.38485899T>GCA507353291RYR1c.5244T>G (p.Pro1748=)
c.5241T>G (p.Pro1747=)
n.5327T>G
 gnomAD v4
19g.38485900C>ACA405654284RYR1c.5245C>A (p.Pro1749Thr)
c.5242C>A (p.Pro1748Thr)
n.5328C>A
19g.38485900C=CA2335046302RYR1c.5245C= (p.Pro1749=)
c.5242C= (p.Pro1748=)
n.5328C=
19g.38485900C>GCA405654285RYR1c.5245C>G (p.Pro1749Ala)
c.5242C>G (p.Pro1748Ala)
n.5328C>G
19g.38485900C>TCA405654287RYR1c.5245C>T (p.Pro1749Ser)
c.5242C>T (p.Pro1748Ser)
n.5328C>T
 dbSNP gnomAD v4
19g.38485901C>ACA405654288RYR1c.5246C>A (p.Pro1749His)
c.5243C>A (p.Pro1748His)
n.5329C>A
19g.38485901C=CA2335046303RYR1c.5246C= (p.Pro1749=)
c.5243C= (p.Pro1748=)
n.5329C=
19g.38485901C>GCA405654290RYR1c.5246C>G (p.Pro1749Arg)
c.5243C>G (p.Pro1748Arg)
n.5329C>G
19g.38485901C>TCA405654291RYR1c.5246C>T (p.Pro1749Leu)
c.5243C>T (p.Pro1748Leu)
n.5329C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485902T>ACA507353295RYR1c.5247T>A (p.Pro1749=)
c.5244T>A (p.Pro1748=)
n.5330T>A
19g.38485902T>CCA507353296RYR1c.5247T>C (p.Pro1749=)
c.5244T>C (p.Pro1748=)
n.5330T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485902T>GCA507353297RYR1c.5247T>G (p.Pro1749=)
c.5244T>G (p.Pro1748=)
n.5330T>G
19g.38485902T=CA2335046304RYR1c.5247T= (p.Pro1749=)
c.5244T= (p.Pro1748=)
n.5330T=

Number of alleles fetched