Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237819093A>CCA345426167RYR2c.*5583A>C (n.*5583A>C)
c.14473A>C (p.Ile4825Leu)
c.14512A>C (p.Ile4838Leu)
c.6662A>C
c.14491A>C (p.Ile4831Leu)
c.14440A>C (p.Ile4814Leu)
n.1002A>C
c.14545A>C (p.Ile4849Leu)
c.14542A>C (p.Ile4848Leu)
c.14521A>C (p.Ile4841Leu)
c.14515A>C (p.Ile4839Leu)
c.14509A>C (p.Ile4837Leu)
c.14485A>C (p.Ile4829Leu)
c.14308A>C (p.Ile4770Leu)
c.14452A>C (p.Ile4818Leu)
c.14524A>C (p.Ile4842Leu)
1g.237819093A>GCA345426169RYR2c.*5583A>G (n.*5583A>G)
c.14473A>G (p.Ile4825Val)
c.14512A>G (p.Ile4838Val)
c.6662A>G
c.14491A>G (p.Ile4831Val)
c.14440A>G (p.Ile4814Val)
n.1002A>G
c.14545A>G (p.Ile4849Val)
c.14542A>G (p.Ile4848Val)
c.14521A>G (p.Ile4841Val)
c.14515A>G (p.Ile4839Val)
c.14509A>G (p.Ile4837Val)
c.14485A>G (p.Ile4829Val)
c.14308A>G (p.Ile4770Val)
c.14452A>G (p.Ile4818Val)
c.14524A>G (p.Ile4842Val)
1g.237819093A>TCA345426170RYR2c.*5583A>T (n.*5583A>T)
c.14473A>T (p.Ile4825Phe)
c.14512A>T (p.Ile4838Phe)
c.6662A>T
c.14491A>T (p.Ile4831Phe)
c.14440A>T (p.Ile4814Phe)
n.1002A>T
c.14545A>T (p.Ile4849Phe)
c.14542A>T (p.Ile4848Phe)
c.14521A>T (p.Ile4841Phe)
c.14515A>T (p.Ile4839Phe)
c.14509A>T (p.Ile4837Phe)
c.14485A>T (p.Ile4829Phe)
c.14308A>T (p.Ile4770Phe)
c.14452A>T (p.Ile4818Phe)
c.14524A>T (p.Ile4842Phe)
 gnomAD v4
1g.237819094T>ACA345426172RYR2c.*5584T>A (n.*5584T>A)
c.14474T>A (p.Ile4825Asn)
c.14513T>A (p.Ile4838Asn)
c.6663T>A
c.14492T>A (p.Ile4831Asn)
c.14441T>A (p.Ile4814Asn)
n.1003T>A
c.14546T>A (p.Ile4849Asn)
c.14543T>A (p.Ile4848Asn)
c.14522T>A (p.Ile4841Asn)
c.14516T>A (p.Ile4839Asn)
c.14510T>A (p.Ile4837Asn)
c.14486T>A (p.Ile4829Asn)
c.14309T>A (p.Ile4770Asn)
c.14453T>A (p.Ile4818Asn)
c.14525T>A (p.Ile4842Asn)
1g.237819094T>CCA345426174RYR2c.*5584T>C (n.*5584T>C)
c.14474T>C (p.Ile4825Thr)
c.14513T>C (p.Ile4838Thr)
c.6663T>C
c.14492T>C (p.Ile4831Thr)
c.14441T>C (p.Ile4814Thr)
n.1003T>C
c.14546T>C (p.Ile4849Thr)
c.14543T>C (p.Ile4848Thr)
c.14522T>C (p.Ile4841Thr)
c.14516T>C (p.Ile4839Thr)
c.14510T>C (p.Ile4837Thr)
c.14486T>C (p.Ile4829Thr)
c.14309T>C (p.Ile4770Thr)
c.14453T>C (p.Ile4818Thr)
c.14525T>C (p.Ile4842Thr)
1g.237819094T>GCA345426173RYR2c.*5584T>G (n.*5584T>G)
c.14474T>G (p.Ile4825Ser)
c.14513T>G (p.Ile4838Ser)
c.6663T>G
c.14492T>G (p.Ile4831Ser)
c.14441T>G (p.Ile4814Ser)
n.1003T>G
c.14546T>G (p.Ile4849Ser)
c.14543T>G (p.Ile4848Ser)
c.14522T>G (p.Ile4841Ser)
c.14516T>G (p.Ile4839Ser)
c.14510T>G (p.Ile4837Ser)
c.14486T>G (p.Ile4829Ser)
c.14309T>G (p.Ile4770Ser)
c.14453T>G (p.Ile4818Ser)
c.14525T>G (p.Ile4842Ser)
1g.237819095C>ACA424051791RYR2c.*5585C>A (n.*5585C>A)
c.14475C>A (p.Ile4825=)
c.14514C>A (p.Ile4838=)
c.6664C>A
c.14493C>A (p.Ile4831=)
c.14442C>A (p.Ile4814=)
n.1004C>A
c.14547C>A (p.Ile4849=)
c.14544C>A (p.Ile4848=)
c.14523C>A (p.Ile4841=)
c.14517C>A (p.Ile4839=)
c.14511C>A (p.Ile4837=)
c.14487C>A (p.Ile4829=)
c.14310C>A (p.Ile4770=)
c.14454C>A (p.Ile4818=)
c.14526C>A (p.Ile4842=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237819095C=CA1144061935RYR2c.*5585C= (n.*5585C=)
c.14475C= (p.Ile4825=)
c.14514C= (p.Ile4838=)
c.6664C=
c.14493C= (p.Ile4831=)
c.14442C= (p.Ile4814=)
n.1004C=
c.14547C= (p.Ile4849=)
c.14544C= (p.Ile4848=)
c.14523C= (p.Ile4841=)
c.14517C= (p.Ile4839=)
c.14511C= (p.Ile4837=)
c.14487C= (p.Ile4829=)
c.14310C= (p.Ile4770=)
c.14454C= (p.Ile4818=)
c.14526C= (p.Ile4842=)
1g.237819095C>GCA085667RYR2c.*5585C>G (n.*5585C>G)
c.14475C>G (p.Ile4825Met)
c.14514C>G (p.Ile4838Met)
c.6664C>G
c.14493C>G (p.Ile4831Met)
c.14442C>G (p.Ile4814Met)
n.1004C>G
c.14547C>G (p.Ile4849Met)
c.14544C>G (p.Ile4848Met)
c.14523C>G (p.Ile4841Met)
c.14517C>G (p.Ile4839Met)
c.14511C>G (p.Ile4837Met)
c.14487C>G (p.Ile4829Met)
c.14310C>G (p.Ile4770Met)
c.14454C>G (p.Ile4818Met)
c.14526C>G (p.Ile4842Met)
 dbSNP ExAC gnomAD v2
1g.237819095C>TCA085668RYR2c.*5585C>T (n.*5585C>T)
c.14475C>T (p.Ile4825=)
c.14514C>T (p.Ile4838=)
c.6664C>T
c.14493C>T (p.Ile4831=)
c.14442C>T (p.Ile4814=)
n.1004C>T
c.14547C>T (p.Ile4849=)
c.14544C>T (p.Ile4848=)
c.14523C>T (p.Ile4841=)
c.14517C>T (p.Ile4839=)
c.14511C>T (p.Ile4837=)
c.14487C>T (p.Ile4829=)
c.14310C>T (p.Ile4770=)
c.14454C>T (p.Ile4818=)
c.14526C>T (p.Ile4842=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237819095_237819096delCA2542223939RYR2c.*5585_*5586del (n.*5585_*5586del)
c.14475_14476del (p.Glu4826ArgfsTer6)
c.14514_14515del (p.Glu4839ArgfsTer6)
c.6664_6665del
c.14493_14494del (p.Glu4832ArgfsTer6)
c.14442_14443del (p.Glu4815ArgfsTer6)
n.1004_1005del
c.14547_14548del (p.Glu4850ArgfsTer6)
c.14544_14545del (p.Glu4849ArgfsTer6)
c.14523_14524del (p.Glu4842ArgfsTer6)
c.14517_14518del (p.Glu4840ArgfsTer6)
c.14511_14512del (p.Glu4838ArgfsTer6)
c.14487_14488del (p.Glu4830ArgfsTer6)
c.14310_14311del (p.Glu4771ArgfsTer6)
c.14454_14455del (p.Glu4819ArgfsTer6)
c.14526_14527del (p.Glu4843ArgfsTer6)
1g.237819096G>ACA345426184RYR2c.*5586G>A (n.*5586G>A)
c.14476G>A (p.Glu4826Lys)
c.14515G>A (p.Glu4839Lys)
c.6665G>A
c.14494G>A (p.Glu4832Lys)
c.14443G>A (p.Glu4815Lys)
n.1005G>A
c.14548G>A (p.Glu4850Lys)
c.14545G>A (p.Glu4849Lys)
c.14524G>A (p.Glu4842Lys)
c.14518G>A (p.Glu4840Lys)
c.14512G>A (p.Glu4838Lys)
c.14488G>A (p.Glu4830Lys)
c.14311G>A (p.Glu4771Lys)
c.14455G>A (p.Glu4819Lys)
c.14527G>A (p.Glu4843Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237819096G>CCA345426188RYR2c.*5586G>C (n.*5586G>C)
c.14476G>C (p.Glu4826Gln)
c.14515G>C (p.Glu4839Gln)
c.6665G>C
c.14494G>C (p.Glu4832Gln)
c.14443G>C (p.Glu4815Gln)
n.1005G>C
c.14548G>C (p.Glu4850Gln)
c.14545G>C (p.Glu4849Gln)
c.14524G>C (p.Glu4842Gln)
c.14518G>C (p.Glu4840Gln)
c.14512G>C (p.Glu4838Gln)
c.14488G>C (p.Glu4830Gln)
c.14311G>C (p.Glu4771Gln)
c.14455G>C (p.Glu4819Gln)
c.14527G>C (p.Glu4843Gln)
1g.237819096G=CA2487497582RYR2c.*5586G= (n.*5586G=)
c.14476G= (p.Glu4826=)
c.14515G= (p.Glu4839=)
c.6665G=
c.14494G= (p.Glu4832=)
c.14443G= (p.Glu4815=)
n.1005G=
c.14548G= (p.Glu4850=)
c.14545G= (p.Glu4849=)
c.14524G= (p.Glu4842=)
c.14518G= (p.Glu4840=)
c.14512G= (p.Glu4838=)
c.14488G= (p.Glu4830=)
c.14311G= (p.Glu4771=)
c.14455G= (p.Glu4819=)
c.14527G= (p.Glu4843=)
1g.237819096G>TCA345426186RYR2c.*5586G>T (n.*5586G>T)
c.14476G>T (p.Glu4826Ter)
c.14515G>T (p.Glu4839Ter)
c.6665G>T
c.14494G>T (p.Glu4832Ter)
c.14443G>T (p.Glu4815Ter)
n.1005G>T
c.14548G>T (p.Glu4850Ter)
c.14545G>T (p.Glu4849Ter)
c.14524G>T (p.Glu4842Ter)
c.14518G>T (p.Glu4840Ter)
c.14512G>T (p.Glu4838Ter)
c.14488G>T (p.Glu4830Ter)
c.14311G>T (p.Glu4771Ter)
c.14455G>T (p.Glu4819Ter)
c.14527G>T (p.Glu4843Ter)
1g.237819096_237819097insCATCTTATTGTTTAAACCCTAACA2748281245RYR2c.*5586_*5587insCATCTTATTGTTTAAACCCTAA (n.*5586_*5587insCATCTTATTGTTTAAACCCTAA)
c.14476_14477insCATCTTATTGTTTAAACCCTAA (p.Glu4826AlafsTer14)
c.14515_14516insCATCTTATTGTTTAAACCCTAA (p.Glu4839AlafsTer14)
c.6665_6666insCATCTTATTGTTTAAACCCTAA
c.14494_14495insCATCTTATTGTTTAAACCCTAA (p.Glu4832AlafsTer14)
c.14443_14444insCATCTTATTGTTTAAACCCTAA (p.Glu4815AlafsTer14)
n.1005_1006insCATCTTATTGTTTAAACCCTAA
c.14548_14549insCATCTTATTGTTTAAACCCTAA (p.Glu4850AlafsTer14)
c.14545_14546insCATCTTATTGTTTAAACCCTAA (p.Glu4849AlafsTer14)
c.14524_14525insCATCTTATTGTTTAAACCCTAA (p.Glu4842AlafsTer14)
c.14518_14519insCATCTTATTGTTTAAACCCTAA (p.Glu4840AlafsTer14)
c.14512_14513insCATCTTATTGTTTAAACCCTAA (p.Glu4838AlafsTer14)
c.14488_14489insCATCTTATTGTTTAAACCCTAA (p.Glu4830AlafsTer14)
c.14311_14312insCATCTTATTGTTTAAACCCTAA (p.Glu4771AlafsTer14)
c.14455_14456insCATCTTATTGTTTAAACCCTAA (p.Glu4819AlafsTer14)
c.14527_14528insCATCTTATTGTTTAAACCCTAA (p.Glu4843AlafsTer14)
1g.237819097A>CCA345426190RYR2c.*5587A>C (n.*5587A>C)
c.14477A>C (p.Glu4826Ala)
c.14516A>C (p.Glu4839Ala)
c.6666A>C
c.14495A>C (p.Glu4832Ala)
c.14444A>C (p.Glu4815Ala)
n.1006A>C
c.14549A>C (p.Glu4850Ala)
c.14546A>C (p.Glu4849Ala)
c.14525A>C (p.Glu4842Ala)
c.14519A>C (p.Glu4840Ala)
c.14513A>C (p.Glu4838Ala)
c.14489A>C (p.Glu4830Ala)
c.14312A>C (p.Glu4771Ala)
c.14456A>C (p.Glu4819Ala)
c.14528A>C (p.Glu4843Ala)
1g.237819097A>GCA345426192RYR2c.*5587A>G (n.*5587A>G)
c.14477A>G (p.Glu4826Gly)
c.14516A>G (p.Glu4839Gly)
c.6666A>G
c.14495A>G (p.Glu4832Gly)
c.14444A>G (p.Glu4815Gly)
n.1006A>G
c.14549A>G (p.Glu4850Gly)
c.14546A>G (p.Glu4849Gly)
c.14525A>G (p.Glu4842Gly)
c.14519A>G (p.Glu4840Gly)
c.14513A>G (p.Glu4838Gly)
c.14489A>G (p.Glu4830Gly)
c.14312A>G (p.Glu4771Gly)
c.14456A>G (p.Glu4819Gly)
c.14528A>G (p.Glu4843Gly)
1g.237819097A>TCA345426191RYR2c.*5587A>T (n.*5587A>T)
c.14477A>T (p.Glu4826Val)
c.14516A>T (p.Glu4839Val)
c.6666A>T
c.14495A>T (p.Glu4832Val)
c.14444A>T (p.Glu4815Val)
n.1006A>T
c.14549A>T (p.Glu4850Val)
c.14546A>T (p.Glu4849Val)
c.14525A>T (p.Glu4842Val)
c.14519A>T (p.Glu4840Val)
c.14513A>T (p.Glu4838Val)
c.14489A>T (p.Glu4830Val)
c.14312A>T (p.Glu4771Val)
c.14456A>T (p.Glu4819Val)
c.14528A>T (p.Glu4843Val)
1g.237819098A>CCA345426194RYR2c.*5588A>C (n.*5588A>C)
c.14478A>C (p.Glu4826Asp)
c.14517A>C (p.Glu4839Asp)
c.6667A>C
c.14496A>C (p.Glu4832Asp)
c.14445A>C (p.Glu4815Asp)
n.1007A>C
c.14550A>C (p.Glu4850Asp)
c.14547A>C (p.Glu4849Asp)
c.14526A>C (p.Glu4842Asp)
c.14520A>C (p.Glu4840Asp)
c.14514A>C (p.Glu4838Asp)
c.14490A>C (p.Glu4830Asp)
c.14313A>C (p.Glu4771Asp)
c.14457A>C (p.Glu4819Asp)
c.14529A>C (p.Glu4843Asp)
1g.237819098A>GCA424051792RYR2c.*5588A>G (n.*5588A>G)
c.14478A>G (p.Glu4826=)
c.14517A>G (p.Glu4839=)
c.6667A>G
c.14496A>G (p.Glu4832=)
c.14445A>G (p.Glu4815=)
n.1007A>G
c.14550A>G (p.Glu4850=)
c.14547A>G (p.Glu4849=)
c.14526A>G (p.Glu4842=)
c.14520A>G (p.Glu4840=)
c.14514A>G (p.Glu4838=)
c.14490A>G (p.Glu4830=)
c.14313A>G (p.Glu4771=)
c.14457A>G (p.Glu4819=)
c.14529A>G (p.Glu4843=)
1g.237819098A>TCA345426196RYR2c.*5588A>T (n.*5588A>T)
c.14478A>T (p.Glu4826Asp)
c.14517A>T (p.Glu4839Asp)
c.6667A>T
c.14496A>T (p.Glu4832Asp)
c.14445A>T (p.Glu4815Asp)
n.1007A>T
c.14550A>T (p.Glu4850Asp)
c.14547A>T (p.Glu4849Asp)
c.14526A>T (p.Glu4842Asp)
c.14520A>T (p.Glu4840Asp)
c.14514A>T (p.Glu4838Asp)
c.14490A>T (p.Glu4830Asp)
c.14313A>T (p.Glu4771Asp)
c.14457A>T (p.Glu4819Asp)
c.14529A>T (p.Glu4843Asp)
1g.237819099G>ACA345426198RYR2c.*5589G>A (n.*5589G>A)
c.14479G>A (p.Asp4827Asn)
c.14518G>A (p.Asp4840Asn)
c.6668G>A
c.14497G>A (p.Asp4833Asn)
c.14446G>A (p.Asp4816Asn)
n.1008G>A
c.14551G>A (p.Asp4851Asn)
c.14548G>A (p.Asp4850Asn)
c.14527G>A (p.Asp4843Asn)
c.14521G>A (p.Asp4841Asn)
c.14515G>A (p.Asp4839Asn)
c.14491G>A (p.Asp4831Asn)
c.14314G>A (p.Asp4772Asn)
c.14458G>A (p.Asp4820Asn)
c.14530G>A (p.Asp4844Asn)
1g.237819099G>CCA345426200RYR2c.*5589G>C (n.*5589G>C)
c.14479G>C (p.Asp4827His)
c.14518G>C (p.Asp4840His)
c.6668G>C
c.14497G>C (p.Asp4833His)
c.14446G>C (p.Asp4816His)
n.1008G>C
c.14551G>C (p.Asp4851His)
c.14548G>C (p.Asp4850His)
c.14527G>C (p.Asp4843His)
c.14521G>C (p.Asp4841His)
c.14515G>C (p.Asp4839His)
c.14491G>C (p.Asp4831His)
c.14314G>C (p.Asp4772His)
c.14458G>C (p.Asp4820His)
c.14530G>C (p.Asp4844His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237819099G=CA2487497583RYR2c.*5589G= (n.*5589G=)
c.14479G= (p.Asp4827=)
c.14518G= (p.Asp4840=)
c.6668G=
c.14497G= (p.Asp4833=)
c.14446G= (p.Asp4816=)
n.1008G=
c.14551G= (p.Asp4851=)
c.14548G= (p.Asp4850=)
c.14527G= (p.Asp4843=)
c.14521G= (p.Asp4841=)
c.14515G= (p.Asp4839=)
c.14491G= (p.Asp4831=)
c.14314G= (p.Asp4772=)
c.14458G= (p.Asp4820=)
c.14530G= (p.Asp4844=)
1g.237819099G>TCA345426202RYR2c.*5589G>T (n.*5589G>T)
c.14479G>T (p.Asp4827Tyr)
c.14518G>T (p.Asp4840Tyr)
c.6668G>T
c.14497G>T (p.Asp4833Tyr)
c.14446G>T (p.Asp4816Tyr)
n.1008G>T
c.14551G>T (p.Asp4851Tyr)
c.14548G>T (p.Asp4850Tyr)
c.14527G>T (p.Asp4843Tyr)
c.14521G>T (p.Asp4841Tyr)
c.14515G>T (p.Asp4839Tyr)
c.14491G>T (p.Asp4831Tyr)
c.14314G>T (p.Asp4772Tyr)
c.14458G>T (p.Asp4820Tyr)
c.14530G>T (p.Asp4844Tyr)
1g.237819100A>CCA345426205RYR2c.*5590A>C (n.*5590A>C)
c.14480A>C (p.Asp4827Ala)
c.14519A>C (p.Asp4840Ala)
c.6669A>C
c.14498A>C (p.Asp4833Ala)
c.14447A>C (p.Asp4816Ala)
n.1009A>C
c.14552A>C (p.Asp4851Ala)
c.14549A>C (p.Asp4850Ala)
c.14528A>C (p.Asp4843Ala)
c.14522A>C (p.Asp4841Ala)
c.14516A>C (p.Asp4839Ala)
c.14492A>C (p.Asp4831Ala)
c.14315A>C (p.Asp4772Ala)
c.14459A>C (p.Asp4820Ala)
c.14531A>C (p.Asp4844Ala)
1g.237819100A>GCA345426207RYR2c.*5590A>G (n.*5590A>G)
c.14480A>G (p.Asp4827Gly)
c.14519A>G (p.Asp4840Gly)
c.6669A>G
c.14498A>G (p.Asp4833Gly)
c.14447A>G (p.Asp4816Gly)
n.1009A>G
c.14552A>G (p.Asp4851Gly)
c.14549A>G (p.Asp4850Gly)
c.14528A>G (p.Asp4843Gly)
c.14522A>G (p.Asp4841Gly)
c.14516A>G (p.Asp4839Gly)
c.14492A>G (p.Asp4831Gly)
c.14315A>G (p.Asp4772Gly)
c.14459A>G (p.Asp4820Gly)
c.14531A>G (p.Asp4844Gly)
1g.237819100A>TCA345426208RYR2c.*5590A>T (n.*5590A>T)
c.14480A>T (p.Asp4827Val)
c.14519A>T (p.Asp4840Val)
c.6669A>T
c.14498A>T (p.Asp4833Val)
c.14447A>T (p.Asp4816Val)
n.1009A>T
c.14552A>T (p.Asp4851Val)
c.14549A>T (p.Asp4850Val)
c.14528A>T (p.Asp4843Val)
c.14522A>T (p.Asp4841Val)
c.14516A>T (p.Asp4839Val)
c.14492A>T (p.Asp4831Val)
c.14315A>T (p.Asp4772Val)
c.14459A>T (p.Asp4820Val)
c.14531A>T (p.Asp4844Val)
1g.237819101C>ACA345426210RYR2c.*5591C>A (n.*5591C>A)
c.14481C>A (p.Asp4827Glu)
c.14520C>A (p.Asp4840Glu)
c.6670C>A
c.14499C>A (p.Asp4833Glu)
c.14448C>A (p.Asp4816Glu)
n.1010C>A
c.14553C>A (p.Asp4851Glu)
c.14550C>A (p.Asp4850Glu)
c.14529C>A (p.Asp4843Glu)
c.14523C>A (p.Asp4841Glu)
c.14517C>A (p.Asp4839Glu)
c.14493C>A (p.Asp4831Glu)
c.14316C>A (p.Asp4772Glu)
c.14460C>A (p.Asp4820Glu)
c.14532C>A (p.Asp4844Glu)
1g.237819101C>GCA345426212RYR2c.*5591C>G (n.*5591C>G)
c.14481C>G (p.Asp4827Glu)
c.14520C>G (p.Asp4840Glu)
c.6670C>G
c.14499C>G (p.Asp4833Glu)
c.14448C>G (p.Asp4816Glu)
n.1010C>G
c.14553C>G (p.Asp4851Glu)
c.14550C>G (p.Asp4850Glu)
c.14529C>G (p.Asp4843Glu)
c.14523C>G (p.Asp4841Glu)
c.14517C>G (p.Asp4839Glu)
c.14493C>G (p.Asp4831Glu)
c.14316C>G (p.Asp4772Glu)
c.14460C>G (p.Asp4820Glu)
c.14532C>G (p.Asp4844Glu)
1g.237819101C>TCA424051793RYR2c.*5591C>T (n.*5591C>T)
c.14481C>T (p.Asp4827=)
c.14520C>T (p.Asp4840=)
c.6670C>T
c.14499C>T (p.Asp4833=)
c.14448C>T (p.Asp4816=)
n.1010C>T
c.14553C>T (p.Asp4851=)
c.14550C>T (p.Asp4850=)
c.14529C>T (p.Asp4843=)
c.14523C>T (p.Asp4841=)
c.14517C>T (p.Asp4839=)
c.14493C>T (p.Asp4831=)
c.14316C>T (p.Asp4772=)
c.14460C>T (p.Asp4820=)
c.14532C>T (p.Asp4844=)
 COSMIC COSMIC
1g.237819102C>ACA345426215RYR2c.*5592C>A (n.*5592C>A)
c.14482C>A (p.Pro4828Thr)
c.14521C>A (p.Pro4841Thr)
c.6671C>A
c.14500C>A (p.Pro4834Thr)
c.14449C>A (p.Pro4817Thr)
n.1011C>A
c.14554C>A (p.Pro4852Thr)
c.14551C>A (p.Pro4851Thr)
c.14530C>A (p.Pro4844Thr)
c.14524C>A (p.Pro4842Thr)
c.14518C>A (p.Pro4840Thr)
c.14494C>A (p.Pro4832Thr)
c.14317C>A (p.Pro4773Thr)
c.14461C>A (p.Pro4821Thr)
c.14533C>A (p.Pro4845Thr)
1g.237819102C>GCA345426217RYR2c.*5592C>G (n.*5592C>G)
c.14482C>G (p.Pro4828Ala)
c.14521C>G (p.Pro4841Ala)
c.6671C>G
c.14500C>G (p.Pro4834Ala)
c.14449C>G (p.Pro4817Ala)
n.1011C>G
c.14554C>G (p.Pro4852Ala)
c.14551C>G (p.Pro4851Ala)
c.14530C>G (p.Pro4844Ala)
c.14524C>G (p.Pro4842Ala)
c.14518C>G (p.Pro4840Ala)
c.14494C>G (p.Pro4832Ala)
c.14317C>G (p.Pro4773Ala)
c.14461C>G (p.Pro4821Ala)
c.14533C>G (p.Pro4845Ala)
1g.237819102C>TCA345426219RYR2c.*5592C>T (n.*5592C>T)
c.14482C>T (p.Pro4828Ser)
c.14521C>T (p.Pro4841Ser)
c.6671C>T
c.14500C>T (p.Pro4834Ser)
c.14449C>T (p.Pro4817Ser)
n.1011C>T
c.14554C>T (p.Pro4852Ser)
c.14551C>T (p.Pro4851Ser)
c.14530C>T (p.Pro4844Ser)
c.14524C>T (p.Pro4842Ser)
c.14518C>T (p.Pro4840Ser)
c.14494C>T (p.Pro4832Ser)
c.14317C>T (p.Pro4773Ser)
c.14461C>T (p.Pro4821Ser)
c.14533C>T (p.Pro4845Ser)
1g.237819103C>ACA345426224RYR2c.*5593C>A (n.*5593C>A)
c.14483C>A (p.Pro4828Gln)
c.14522C>A (p.Pro4841Gln)
c.6672C>A
c.14501C>A (p.Pro4834Gln)
c.14450C>A (p.Pro4817Gln)
n.1012C>A
c.14555C>A (p.Pro4852Gln)
c.14552C>A (p.Pro4851Gln)
c.14531C>A (p.Pro4844Gln)
c.14525C>A (p.Pro4842Gln)
c.14519C>A (p.Pro4840Gln)
c.14495C>A (p.Pro4832Gln)
c.14318C>A (p.Pro4773Gln)
c.14462C>A (p.Pro4821Gln)
c.14534C>A (p.Pro4845Gln)
1g.237819103C>GCA345426223RYR2c.*5593C>G (n.*5593C>G)
c.14483C>G (p.Pro4828Arg)
c.14522C>G (p.Pro4841Arg)
c.6672C>G
c.14501C>G (p.Pro4834Arg)
c.14450C>G (p.Pro4817Arg)
n.1012C>G
c.14555C>G (p.Pro4852Arg)
c.14552C>G (p.Pro4851Arg)
c.14531C>G (p.Pro4844Arg)
c.14525C>G (p.Pro4842Arg)
c.14519C>G (p.Pro4840Arg)
c.14495C>G (p.Pro4832Arg)
c.14318C>G (p.Pro4773Arg)
c.14462C>G (p.Pro4821Arg)
c.14534C>G (p.Pro4845Arg)
1g.237819103C>TCA345426222RYR2c.*5593C>T (n.*5593C>T)
c.14483C>T (p.Pro4828Leu)
c.14522C>T (p.Pro4841Leu)
c.6672C>T
c.14501C>T (p.Pro4834Leu)
c.14450C>T (p.Pro4817Leu)
n.1012C>T
c.14555C>T (p.Pro4852Leu)
c.14552C>T (p.Pro4851Leu)
c.14531C>T (p.Pro4844Leu)
c.14525C>T (p.Pro4842Leu)
c.14519C>T (p.Pro4840Leu)
c.14495C>T (p.Pro4832Leu)
c.14318C>T (p.Pro4773Leu)
c.14462C>T (p.Pro4821Leu)
c.14534C>T (p.Pro4845Leu)
1g.237819104A=CA1143599687RYR2c.*5594A= (n.*5594A=)
c.14484A= (p.Pro4828=)
c.14523A= (p.Pro4841=)
c.6673A=
c.14502A= (p.Pro4834=)
c.14451A= (p.Pro4817=)
n.1013A=
c.14556A= (p.Pro4852=)
c.14553A= (p.Pro4851=)
c.14532A= (p.Pro4844=)
c.14526A= (p.Pro4842=)
c.14520A= (p.Pro4840=)
c.14496A= (p.Pro4832=)
c.14319A= (p.Pro4773=)
c.14463A= (p.Pro4821=)
c.14535A= (p.Pro4845=)
1g.237819104A>CCA424051795RYR2c.*5594A>C (n.*5594A>C)
c.14484A>C (p.Pro4828=)
c.14523A>C (p.Pro4841=)
c.6673A>C
c.14502A>C (p.Pro4834=)
c.14451A>C (p.Pro4817=)
n.1013A>C
c.14556A>C (p.Pro4852=)
c.14553A>C (p.Pro4851=)
c.14532A>C (p.Pro4844=)
c.14526A>C (p.Pro4842=)
c.14520A>C (p.Pro4840=)
c.14496A>C (p.Pro4832=)
c.14319A>C (p.Pro4773=)
c.14463A>C (p.Pro4821=)
c.14535A>C (p.Pro4845=)
1g.237819104A>GCA085669RYR2c.*5594A>G (n.*5594A>G)
c.14484A>G (p.Pro4828=)
c.14523A>G (p.Pro4841=)
c.6673A>G
c.14502A>G (p.Pro4834=)
c.14451A>G (p.Pro4817=)
n.1013A>G
c.14556A>G (p.Pro4852=)
c.14553A>G (p.Pro4851=)
c.14532A>G (p.Pro4844=)
c.14526A>G (p.Pro4842=)
c.14520A>G (p.Pro4840=)
c.14496A>G (p.Pro4832=)
c.14319A>G (p.Pro4773=)
c.14463A>G (p.Pro4821=)
c.14535A>G (p.Pro4845=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237819104A>TCA424051794RYR2c.*5594A>T (n.*5594A>T)
c.14484A>T (p.Pro4828=)
c.14523A>T (p.Pro4841=)
c.6673A>T
c.14502A>T (p.Pro4834=)
c.14451A>T (p.Pro4817=)
n.1013A>T
c.14556A>T (p.Pro4852=)
c.14553A>T (p.Pro4851=)
c.14532A>T (p.Pro4844=)
c.14526A>T (p.Pro4842=)
c.14520A>T (p.Pro4840=)
c.14496A>T (p.Pro4832=)
c.14319A>T (p.Pro4773=)
c.14463A>T (p.Pro4821=)
c.14535A>T (p.Pro4845=)
1g.237819105G>ACA345426225RYR2c.*5595G>A (n.*5595G>A)
c.14485G>A (p.Ala4829Thr)
c.14524G>A (p.Ala4842Thr)
c.6674G>A
c.14503G>A (p.Ala4835Thr)
c.14452G>A (p.Ala4818Thr)
n.1014G>A
c.14557G>A (p.Ala4853Thr)
c.14554G>A (p.Ala4852Thr)
c.14533G>A (p.Ala4845Thr)
c.14527G>A (p.Ala4843Thr)
c.14521G>A (p.Ala4841Thr)
c.14497G>A (p.Ala4833Thr)
c.14320G>A (p.Ala4774Thr)
c.14464G>A (p.Ala4822Thr)
c.14536G>A (p.Ala4846Thr)
1g.237819105G>CCA345426226RYR2c.*5595G>C (n.*5595G>C)
c.14485G>C (p.Ala4829Pro)
c.14524G>C (p.Ala4842Pro)
c.6674G>C
c.14503G>C (p.Ala4835Pro)
c.14452G>C (p.Ala4818Pro)
n.1014G>C
c.14557G>C (p.Ala4853Pro)
c.14554G>C (p.Ala4852Pro)
c.14533G>C (p.Ala4845Pro)
c.14527G>C (p.Ala4843Pro)
c.14521G>C (p.Ala4841Pro)
c.14497G>C (p.Ala4833Pro)
c.14320G>C (p.Ala4774Pro)
c.14464G>C (p.Ala4822Pro)
c.14536G>C (p.Ala4846Pro)
1g.237819105G>TCA345426228RYR2c.*5595G>T (n.*5595G>T)
c.14485G>T (p.Ala4829Ser)
c.14524G>T (p.Ala4842Ser)
c.6674G>T
c.14503G>T (p.Ala4835Ser)
c.14452G>T (p.Ala4818Ser)
n.1014G>T
c.14557G>T (p.Ala4853Ser)
c.14554G>T (p.Ala4852Ser)
c.14533G>T (p.Ala4845Ser)
c.14527G>T (p.Ala4843Ser)
c.14521G>T (p.Ala4841Ser)
c.14497G>T (p.Ala4833Ser)
c.14320G>T (p.Ala4774Ser)
c.14464G>T (p.Ala4822Ser)
c.14536G>T (p.Ala4846Ser)
1g.237819106C>ACA345426229RYR2c.*5596C>A (n.*5596C>A)
c.14486C>A (p.Ala4829Glu)
c.14525C>A (p.Ala4842Glu)
c.6675C>A
c.14504C>A (p.Ala4835Glu)
c.14453C>A (p.Ala4818Glu)
n.1015C>A
c.14558C>A (p.Ala4853Glu)
c.14555C>A (p.Ala4852Glu)
c.14534C>A (p.Ala4845Glu)
c.14528C>A (p.Ala4843Glu)
c.14522C>A (p.Ala4841Glu)
c.14498C>A (p.Ala4833Glu)
c.14321C>A (p.Ala4774Glu)
c.14465C>A (p.Ala4822Glu)
c.14537C>A (p.Ala4846Glu)
1g.237819106C>GCA345426230RYR2c.*5596C>G (n.*5596C>G)
c.14486C>G (p.Ala4829Gly)
c.14525C>G (p.Ala4842Gly)
c.6675C>G
c.14504C>G (p.Ala4835Gly)
c.14453C>G (p.Ala4818Gly)
n.1015C>G
c.14558C>G (p.Ala4853Gly)
c.14555C>G (p.Ala4852Gly)
c.14534C>G (p.Ala4845Gly)
c.14528C>G (p.Ala4843Gly)
c.14522C>G (p.Ala4841Gly)
c.14498C>G (p.Ala4833Gly)
c.14321C>G (p.Ala4774Gly)
c.14465C>G (p.Ala4822Gly)
c.14537C>G (p.Ala4846Gly)
1g.237819106C>TCA345426231RYR2c.*5596C>T (n.*5596C>T)
c.14486C>T (p.Ala4829Val)
c.14525C>T (p.Ala4842Val)
c.6675C>T
c.14504C>T (p.Ala4835Val)
c.14453C>T (p.Ala4818Val)
n.1015C>T
c.14558C>T (p.Ala4853Val)
c.14555C>T (p.Ala4852Val)
c.14534C>T (p.Ala4845Val)
c.14528C>T (p.Ala4843Val)
c.14522C>T (p.Ala4841Val)
c.14498C>T (p.Ala4833Val)
c.14321C>T (p.Ala4774Val)
c.14465C>T (p.Ala4822Val)
c.14537C>T (p.Ala4846Val)
1g.237819107A>CCA424051796RYR2c.*5597A>C (n.*5597A>C)
c.14487A>C (p.Ala4829=)
c.14526A>C (p.Ala4842=)
c.6676A>C
c.14505A>C (p.Ala4835=)
c.14454A>C (p.Ala4818=)
n.1016A>C
c.14559A>C (p.Ala4853=)
c.14556A>C (p.Ala4852=)
c.14535A>C (p.Ala4845=)
c.14529A>C (p.Ala4843=)
c.14523A>C (p.Ala4841=)
c.14499A>C (p.Ala4833=)
c.14322A>C (p.Ala4774=)
c.14466A>C (p.Ala4822=)
c.14538A>C (p.Ala4846=)
 gnomAD v4
1g.237819107A>GCA424051797RYR2c.*5597A>G (n.*5597A>G)
c.14487A>G (p.Ala4829=)
c.14526A>G (p.Ala4842=)
c.6676A>G
c.14505A>G (p.Ala4835=)
c.14454A>G (p.Ala4818=)
n.1016A>G
c.14559A>G (p.Ala4853=)
c.14556A>G (p.Ala4852=)
c.14535A>G (p.Ala4845=)
c.14529A>G (p.Ala4843=)
c.14523A>G (p.Ala4841=)
c.14499A>G (p.Ala4833=)
c.14322A>G (p.Ala4774=)
c.14466A>G (p.Ala4822=)
c.14538A>G (p.Ala4846=)
1g.237819107A>TCA424051798RYR2c.*5597A>T (n.*5597A>T)
c.14487A>T (p.Ala4829=)
c.14526A>T (p.Ala4842=)
c.6676A>T
c.14505A>T (p.Ala4835=)
c.14454A>T (p.Ala4818=)
n.1016A>T
c.14559A>T (p.Ala4853=)
c.14556A>T (p.Ala4852=)
c.14535A>T (p.Ala4845=)
c.14529A>T (p.Ala4843=)
c.14523A>T (p.Ala4841=)
c.14499A>T (p.Ala4833=)
c.14322A>T (p.Ala4774=)
c.14466A>T (p.Ala4822=)
c.14538A>T (p.Ala4846=)
 gnomAD v4
1g.237819108G>ACA345426232RYR2c.*5598G>A (n.*5598G>A)
c.14488G>A (p.Gly4830Arg)
c.14527G>A (p.Gly4843Arg)
c.6677G>A
c.14506G>A (p.Gly4836Arg)
c.14455G>A (p.Gly4819Arg)
n.1017G>A
c.14560G>A (p.Gly4854Arg)
c.14557G>A (p.Gly4853Arg)
c.14536G>A (p.Gly4846Arg)
c.14530G>A (p.Gly4844Arg)
c.14524G>A (p.Gly4842Arg)
c.14500G>A (p.Gly4834Arg)
c.14323G>A (p.Gly4775Arg)
c.14467G>A (p.Gly4823Arg)
c.14539G>A (p.Gly4847Arg)
 ClinVar
1g.237819108G>CCA345426233RYR2c.*5598G>C (n.*5598G>C)
c.14488G>C (p.Gly4830Arg)
c.14527G>C (p.Gly4843Arg)
c.6677G>C
c.14506G>C (p.Gly4836Arg)
c.14455G>C (p.Gly4819Arg)
n.1017G>C
c.14560G>C (p.Gly4854Arg)
c.14557G>C (p.Gly4853Arg)
c.14536G>C (p.Gly4846Arg)
c.14530G>C (p.Gly4844Arg)
c.14524G>C (p.Gly4842Arg)
c.14500G>C (p.Gly4834Arg)
c.14323G>C (p.Gly4775Arg)
c.14467G>C (p.Gly4823Arg)
c.14539G>C (p.Gly4847Arg)
1g.237819108G>TCA345426234RYR2c.*5598G>T (n.*5598G>T)
c.14488G>T (p.Gly4830Ter)
c.14527G>T (p.Gly4843Ter)
c.6677G>T
c.14506G>T (p.Gly4836Ter)
c.14455G>T (p.Gly4819Ter)
n.1017G>T
c.14560G>T (p.Gly4854Ter)
c.14557G>T (p.Gly4853Ter)
c.14536G>T (p.Gly4846Ter)
c.14530G>T (p.Gly4844Ter)
c.14524G>T (p.Gly4842Ter)
c.14500G>T (p.Gly4834Ter)
c.14323G>T (p.Gly4775Ter)
c.14467G>T (p.Gly4823Ter)
c.14539G>T (p.Gly4847Ter)
1g.237819109G>ACA345426237RYR2c.*5599G>A (n.*5599G>A)
c.14489G>A (p.Gly4830Glu)
c.14528G>A (p.Gly4843Glu)
c.6678G>A
c.14507G>A (p.Gly4836Glu)
c.14456G>A (p.Gly4819Glu)
n.1018G>A
c.14561G>A (p.Gly4854Glu)
c.14558G>A (p.Gly4853Glu)
c.14537G>A (p.Gly4846Glu)
c.14531G>A (p.Gly4844Glu)
c.14525G>A (p.Gly4842Glu)
c.14501G>A (p.Gly4834Glu)
c.14324G>A (p.Gly4775Glu)
c.14468G>A (p.Gly4823Glu)
c.14540G>A (p.Gly4847Glu)
1g.237819109G>CCA068376RYR2c.*5599G>C (n.*5599G>C)
c.14489G>C (p.Gly4830Ala)
c.14528G>C (p.Gly4843Ala)
c.6678G>C
c.14507G>C (p.Gly4836Ala)
c.14456G>C (p.Gly4819Ala)
n.1018G>C
c.14561G>C (p.Gly4854Ala)
c.14558G>C (p.Gly4853Ala)
c.14537G>C (p.Gly4846Ala)
c.14531G>C (p.Gly4844Ala)
c.14525G>C (p.Gly4842Ala)
c.14501G>C (p.Gly4834Ala)
c.14324G>C (p.Gly4775Ala)
c.14468G>C (p.Gly4823Ala)
c.14540G>C (p.Gly4847Ala)
1g.237819109G>TCA345426252RYR2c.*5599G>T (n.*5599G>T)
c.14489G>T (p.Gly4830Val)
c.14528G>T (p.Gly4843Val)
c.6678G>T
c.14507G>T (p.Gly4836Val)
c.14456G>T (p.Gly4819Val)
n.1018G>T
c.14561G>T (p.Gly4854Val)
c.14558G>T (p.Gly4853Val)
c.14537G>T (p.Gly4846Val)
c.14531G>T (p.Gly4844Val)
c.14525G>T (p.Gly4842Val)
c.14501G>T (p.Gly4834Val)
c.14324G>T (p.Gly4775Val)
c.14468G>T (p.Gly4823Val)
c.14540G>T (p.Gly4847Val)
1g.237819110A>CCA424051800RYR2c.*5600A>C (n.*5600A>C)
c.14490A>C (p.Gly4830=)
c.14529A>C (p.Gly4843=)
c.6679A>C
c.14508A>C (p.Gly4836=)
c.14457A>C (p.Gly4819=)
n.1019A>C
c.14562A>C (p.Gly4854=)
c.14559A>C (p.Gly4853=)
c.14538A>C (p.Gly4846=)
c.14532A>C (p.Gly4844=)
c.14526A>C (p.Gly4842=)
c.14502A>C (p.Gly4834=)
c.14325A>C (p.Gly4775=)
c.14469A>C (p.Gly4823=)
c.14541A>C (p.Gly4847=)
 dbSNP
1g.237819110A>GCA424051799RYR2c.*5600A>G (n.*5600A>G)
c.14490A>G (p.Gly4830=)
c.14529A>G (p.Gly4843=)
c.6679A>G
c.14508A>G (p.Gly4836=)
c.14457A>G (p.Gly4819=)
n.1019A>G
c.14562A>G (p.Gly4854=)
c.14559A>G (p.Gly4853=)
c.14538A>G (p.Gly4846=)
c.14532A>G (p.Gly4844=)
c.14526A>G (p.Gly4842=)
c.14502A>G (p.Gly4834=)
c.14325A>G (p.Gly4775=)
c.14469A>G (p.Gly4823=)
c.14541A>G (p.Gly4847=)
1g.237819110A>TCA424051801RYR2c.*5600A>T (n.*5600A>T)
c.14490A>T (p.Gly4830=)
c.14529A>T (p.Gly4843=)
c.6679A>T
c.14508A>T (p.Gly4836=)
c.14457A>T (p.Gly4819=)
n.1019A>T
c.14562A>T (p.Gly4854=)
c.14559A>T (p.Gly4853=)
c.14538A>T (p.Gly4846=)
c.14532A>T (p.Gly4844=)
c.14526A>T (p.Gly4842=)
c.14502A>T (p.Gly4834=)
c.14325A>T (p.Gly4775=)
c.14469A>T (p.Gly4823=)
c.14541A>T (p.Gly4847=)
 COSMIC COSMIC
1g.237819111G>ACA345426258RYR2c.*5601G>A (n.*5601G>A)
c.14491G>A (p.Asp4831Asn)
c.14530G>A (p.Asp4844Asn)
c.6680G>A
c.14509G>A (p.Asp4837Asn)
c.14458G>A (p.Asp4820Asn)
n.1020G>A
c.14563G>A (p.Asp4855Asn)
c.14560G>A (p.Asp4854Asn)
c.14539G>A (p.Asp4847Asn)
c.14533G>A (p.Asp4845Asn)
c.14527G>A (p.Asp4843Asn)
c.14503G>A (p.Asp4835Asn)
c.14326G>A (p.Asp4776Asn)
c.14470G>A (p.Asp4824Asn)
c.14542G>A (p.Asp4848Asn)
 gnomAD v4
1g.237819111G>CCA345426257RYR2c.*5601G>C (n.*5601G>C)
c.14491G>C (p.Asp4831His)
c.14530G>C (p.Asp4844His)
c.6680G>C
c.14509G>C (p.Asp4837His)
c.14458G>C (p.Asp4820His)
n.1020G>C
c.14563G>C (p.Asp4855His)
c.14560G>C (p.Asp4854His)
c.14539G>C (p.Asp4847His)
c.14533G>C (p.Asp4845His)
c.14527G>C (p.Asp4843His)
c.14503G>C (p.Asp4835His)
c.14326G>C (p.Asp4776His)
c.14470G>C (p.Asp4824His)
c.14542G>C (p.Asp4848His)
1g.237819111G>TCA345426256RYR2c.*5601G>T (n.*5601G>T)
c.14491G>T (p.Asp4831Tyr)
c.14530G>T (p.Asp4844Tyr)
c.6680G>T
c.14509G>T (p.Asp4837Tyr)
c.14458G>T (p.Asp4820Tyr)
n.1020G>T
c.14563G>T (p.Asp4855Tyr)
c.14560G>T (p.Asp4854Tyr)
c.14539G>T (p.Asp4847Tyr)
c.14533G>T (p.Asp4845Tyr)
c.14527G>T (p.Asp4843Tyr)
c.14503G>T (p.Asp4835Tyr)
c.14326G>T (p.Asp4776Tyr)
c.14470G>T (p.Asp4824Tyr)
c.14542G>T (p.Asp4848Tyr)
1g.237819112A>CCA345426268RYR2c.*5602A>C (n.*5602A>C)
c.14492A>C (p.Asp4831Ala)
c.14531A>C (p.Asp4844Ala)
c.6681A>C
c.14510A>C (p.Asp4837Ala)
c.14459A>C (p.Asp4820Ala)
n.1021A>C
c.14564A>C (p.Asp4855Ala)
c.14561A>C (p.Asp4854Ala)
c.14540A>C (p.Asp4847Ala)
c.14534A>C (p.Asp4845Ala)
c.14528A>C (p.Asp4843Ala)
c.14504A>C (p.Asp4835Ala)
c.14327A>C (p.Asp4776Ala)
c.14471A>C (p.Asp4824Ala)
c.14543A>C (p.Asp4848Ala)
1g.237819112A>GCA345426260RYR2c.*5602A>G (n.*5602A>G)
c.14492A>G (p.Asp4831Gly)
c.14531A>G (p.Asp4844Gly)
c.6681A>G
c.14510A>G (p.Asp4837Gly)
c.14459A>G (p.Asp4820Gly)
n.1021A>G
c.14564A>G (p.Asp4855Gly)
c.14561A>G (p.Asp4854Gly)
c.14540A>G (p.Asp4847Gly)
c.14534A>G (p.Asp4845Gly)
c.14528A>G (p.Asp4843Gly)
c.14504A>G (p.Asp4835Gly)
c.14327A>G (p.Asp4776Gly)
c.14471A>G (p.Asp4824Gly)
c.14543A>G (p.Asp4848Gly)
1g.237819112A>TCA345426263RYR2c.*5602A>T (n.*5602A>T)
c.14492A>T (p.Asp4831Val)
c.14531A>T (p.Asp4844Val)
c.6681A>T
c.14510A>T (p.Asp4837Val)
c.14459A>T (p.Asp4820Val)
n.1021A>T
c.14564A>T (p.Asp4855Val)
c.14561A>T (p.Asp4854Val)
c.14540A>T (p.Asp4847Val)
c.14534A>T (p.Asp4845Val)
c.14528A>T (p.Asp4843Val)
c.14504A>T (p.Asp4835Val)
c.14327A>T (p.Asp4776Val)
c.14471A>T (p.Asp4824Val)
c.14543A>T (p.Asp4848Val)
1g.237819113T>ACA345426269RYR2c.*5603T>A (n.*5603T>A)
c.14493T>A (p.Asp4831Glu)
c.14532T>A (p.Asp4844Glu)
c.6682T>A
c.14511T>A (p.Asp4837Glu)
c.14460T>A (p.Asp4820Glu)
n.1022T>A
c.14565T>A (p.Asp4855Glu)
c.14562T>A (p.Asp4854Glu)
c.14541T>A (p.Asp4847Glu)
c.14535T>A (p.Asp4845Glu)
c.14529T>A (p.Asp4843Glu)
c.14505T>A (p.Asp4835Glu)
c.14328T>A (p.Asp4776Glu)
c.14472T>A (p.Asp4824Glu)
c.14544T>A (p.Asp4848Glu)
 gnomAD v4
1g.237819113T>CCA424051802RYR2c.*5603T>C (n.*5603T>C)
c.14493T>C (p.Asp4831=)
c.14532T>C (p.Asp4844=)
c.6682T>C
c.14511T>C (p.Asp4837=)
c.14460T>C (p.Asp4820=)
n.1022T>C
c.14565T>C (p.Asp4855=)
c.14562T>C (p.Asp4854=)
c.14541T>C (p.Asp4847=)
c.14535T>C (p.Asp4845=)
c.14529T>C (p.Asp4843=)
c.14505T>C (p.Asp4835=)
c.14328T>C (p.Asp4776=)
c.14472T>C (p.Asp4824=)
c.14544T>C (p.Asp4848=)
 ClinVar dbSNP
1g.237819113T>GCA345426270RYR2c.*5603T>G (n.*5603T>G)
c.14493T>G (p.Asp4831Glu)
c.14532T>G (p.Asp4844Glu)
c.6682T>G
c.14511T>G (p.Asp4837Glu)
c.14460T>G (p.Asp4820Glu)
n.1022T>G
c.14565T>G (p.Asp4855Glu)
c.14562T>G (p.Asp4854Glu)
c.14541T>G (p.Asp4847Glu)
c.14535T>G (p.Asp4845Glu)
c.14529T>G (p.Asp4843Glu)
c.14505T>G (p.Asp4835Glu)
c.14328T>G (p.Asp4776Glu)
c.14472T>G (p.Asp4824Glu)
c.14544T>G (p.Asp4848Glu)
1g.237819114G>ACA345426271RYR2c.*5604G>A (n.*5604G>A)
c.14494G>A (p.Glu4832Lys)
c.14533G>A (p.Glu4845Lys)
c.6683G>A
c.14512G>A (p.Glu4838Lys)
c.14461G>A (p.Glu4821Lys)
n.1023G>A
c.14566G>A (p.Glu4856Lys)
c.14563G>A (p.Glu4855Lys)
c.14542G>A (p.Glu4848Lys)
c.14536G>A (p.Glu4846Lys)
c.14530G>A (p.Glu4844Lys)
c.14506G>A (p.Glu4836Lys)
c.14329G>A (p.Glu4777Lys)
c.14473G>A (p.Glu4825Lys)
c.14545G>A (p.Glu4849Lys)
1g.237819114G>CCA345426272RYR2c.*5604G>C (n.*5604G>C)
c.14494G>C (p.Glu4832Gln)
c.14533G>C (p.Glu4845Gln)
c.6683G>C
c.14512G>C (p.Glu4838Gln)
c.14461G>C (p.Glu4821Gln)
n.1023G>C
c.14566G>C (p.Glu4856Gln)
c.14563G>C (p.Glu4855Gln)
c.14542G>C (p.Glu4848Gln)
c.14536G>C (p.Glu4846Gln)
c.14530G>C (p.Glu4844Gln)
c.14506G>C (p.Glu4836Gln)
c.14329G>C (p.Glu4777Gln)
c.14473G>C (p.Glu4825Gln)
c.14545G>C (p.Glu4849Gln)
1g.237819114G>TCA345426273RYR2c.*5604G>T (n.*5604G>T)
c.14494G>T (p.Glu4832Ter)
c.14533G>T (p.Glu4845Ter)
c.6683G>T
c.14512G>T (p.Glu4838Ter)
c.14461G>T (p.Glu4821Ter)
n.1023G>T
c.14566G>T (p.Glu4856Ter)
c.14563G>T (p.Glu4855Ter)
c.14542G>T (p.Glu4848Ter)
c.14536G>T (p.Glu4846Ter)
c.14530G>T (p.Glu4844Ter)
c.14506G>T (p.Glu4836Ter)
c.14329G>T (p.Glu4777Ter)
c.14473G>T (p.Glu4825Ter)
c.14545G>T (p.Glu4849Ter)
1g.237819115A=CA2487497584RYR2c.*5605A= (n.*5605A=)
c.14495A= (p.Glu4832=)
c.14534A= (p.Glu4845=)
c.6684A=
c.14513A= (p.Glu4838=)
c.14462A= (p.Glu4821=)
n.1024A=
c.14567A= (p.Glu4856=)
c.14564A= (p.Glu4855=)
c.14543A= (p.Glu4848=)
c.14537A= (p.Glu4846=)
c.14531A= (p.Glu4844=)
c.14507A= (p.Glu4836=)
c.14330A= (p.Glu4777=)
c.14474A= (p.Glu4825=)
c.14546A= (p.Glu4849=)
1g.237819115A>CCA345426274RYR2c.*5605A>C (n.*5605A>C)
c.14495A>C (p.Glu4832Ala)
c.14534A>C (p.Glu4845Ala)
c.6684A>C
c.14513A>C (p.Glu4838Ala)
c.14462A>C (p.Glu4821Ala)
n.1024A>C
c.14567A>C (p.Glu4856Ala)
c.14564A>C (p.Glu4855Ala)
c.14543A>C (p.Glu4848Ala)
c.14537A>C (p.Glu4846Ala)
c.14531A>C (p.Glu4844Ala)
c.14507A>C (p.Glu4836Ala)
c.14330A>C (p.Glu4777Ala)
c.14474A>C (p.Glu4825Ala)
c.14546A>C (p.Glu4849Ala)
1g.237819115A>GCA085670RYR2c.*5605A>G (n.*5605A>G)
c.14495A>G (p.Glu4832Gly)
c.14534A>G (p.Glu4845Gly)
c.6684A>G
c.14513A>G (p.Glu4838Gly)
c.14462A>G (p.Glu4821Gly)
n.1024A>G
c.14567A>G (p.Glu4856Gly)
c.14564A>G (p.Glu4855Gly)
c.14543A>G (p.Glu4848Gly)
c.14537A>G (p.Glu4846Gly)
c.14531A>G (p.Glu4844Gly)
c.14507A>G (p.Glu4836Gly)
c.14330A>G (p.Glu4777Gly)
c.14474A>G (p.Glu4825Gly)
c.14546A>G (p.Glu4849Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.237819115A>TCA345426277RYR2c.*5605A>T (n.*5605A>T)
c.14495A>T (p.Glu4832Val)
c.14534A>T (p.Glu4845Val)
c.6684A>T
c.14513A>T (p.Glu4838Val)
c.14462A>T (p.Glu4821Val)
n.1024A>T
c.14567A>T (p.Glu4856Val)
c.14564A>T (p.Glu4855Val)
c.14543A>T (p.Glu4848Val)
c.14537A>T (p.Glu4846Val)
c.14531A>T (p.Glu4844Val)
c.14507A>T (p.Glu4836Val)
c.14330A>T (p.Glu4777Val)
c.14474A>T (p.Glu4825Val)
c.14546A>T (p.Glu4849Val)
 gnomAD v4
1g.237819116A>CCA345426278RYR2c.*5606A>C (n.*5606A>C)
c.14496A>C (p.Glu4832Asp)
c.14535A>C (p.Glu4845Asp)
c.6685A>C
c.14514A>C (p.Glu4838Asp)
c.14463A>C (p.Glu4821Asp)
n.1025A>C
c.14568A>C (p.Glu4856Asp)
c.14565A>C (p.Glu4855Asp)
c.14544A>C (p.Glu4848Asp)
c.14538A>C (p.Glu4846Asp)
c.14532A>C (p.Glu4844Asp)
c.14508A>C (p.Glu4836Asp)
c.14331A>C (p.Glu4777Asp)
c.14475A>C (p.Glu4825Asp)
c.14547A>C (p.Glu4849Asp)
1g.237819116A>GCA424051803RYR2c.*5606A>G (n.*5606A>G)
c.14496A>G (p.Glu4832=)
c.14535A>G (p.Glu4845=)
c.6685A>G
c.14514A>G (p.Glu4838=)
c.14463A>G (p.Glu4821=)
n.1025A>G
c.14568A>G (p.Glu4856=)
c.14565A>G (p.Glu4855=)
c.14544A>G (p.Glu4848=)
c.14538A>G (p.Glu4846=)
c.14532A>G (p.Glu4844=)
c.14508A>G (p.Glu4836=)
c.14331A>G (p.Glu4777=)
c.14475A>G (p.Glu4825=)
c.14547A>G (p.Glu4849=)
1g.237819116A>TCA345426279RYR2c.*5606A>T (n.*5606A>T)
c.14496A>T (p.Glu4832Asp)
c.14535A>T (p.Glu4845Asp)
c.6685A>T
c.14514A>T (p.Glu4838Asp)
c.14463A>T (p.Glu4821Asp)
n.1025A>T
c.14568A>T (p.Glu4856Asp)
c.14565A>T (p.Glu4855Asp)
c.14544A>T (p.Glu4848Asp)
c.14538A>T (p.Glu4846Asp)
c.14532A>T (p.Glu4844Asp)
c.14508A>T (p.Glu4836Asp)
c.14331A>T (p.Glu4777Asp)
c.14475A>T (p.Glu4825Asp)
c.14547A>T (p.Glu4849Asp)
1g.237819117T>ACA345426284RYR2c.*5607T>A (n.*5607T>A)
c.14497T>A (p.Tyr4833Asn)
c.14536T>A (p.Tyr4846Asn)
c.6686T>A
c.14515T>A (p.Tyr4839Asn)
c.14464T>A (p.Tyr4822Asn)
n.1026T>A
c.14569T>A (p.Tyr4857Asn)
c.14566T>A (p.Tyr4856Asn)
c.14545T>A (p.Tyr4849Asn)
c.14539T>A (p.Tyr4847Asn)
c.14533T>A (p.Tyr4845Asn)
c.14509T>A (p.Tyr4837Asn)
c.14332T>A (p.Tyr4778Asn)
c.14476T>A (p.Tyr4826Asn)
c.14548T>A (p.Tyr4850Asn)
1g.237819117T>CCA345426283RYR2c.*5607T>C (n.*5607T>C)
c.14497T>C (p.Tyr4833His)
c.14536T>C (p.Tyr4846His)
c.6686T>C
c.14515T>C (p.Tyr4839His)
c.14464T>C (p.Tyr4822His)
n.1026T>C
c.14569T>C (p.Tyr4857His)
c.14566T>C (p.Tyr4856His)
c.14545T>C (p.Tyr4849His)
c.14539T>C (p.Tyr4847His)
c.14533T>C (p.Tyr4845His)
c.14509T>C (p.Tyr4837His)
c.14332T>C (p.Tyr4778His)
c.14476T>C (p.Tyr4826His)
c.14548T>C (p.Tyr4850His)
1g.237819117T>GCA345426280RYR2c.*5607T>G (n.*5607T>G)
c.14497T>G (p.Tyr4833Asp)
c.14536T>G (p.Tyr4846Asp)
c.6686T>G
c.14515T>G (p.Tyr4839Asp)
c.14464T>G (p.Tyr4822Asp)
n.1026T>G
c.14569T>G (p.Tyr4857Asp)
c.14566T>G (p.Tyr4856Asp)
c.14545T>G (p.Tyr4849Asp)
c.14539T>G (p.Tyr4847Asp)
c.14533T>G (p.Tyr4845Asp)
c.14509T>G (p.Tyr4837Asp)
c.14332T>G (p.Tyr4778Asp)
c.14476T>G (p.Tyr4826Asp)
c.14548T>G (p.Tyr4850Asp)
1g.237819118A>CCA345426285RYR2c.*5608A>C (n.*5608A>C)
c.14498A>C (p.Tyr4833Ser)
c.14537A>C (p.Tyr4846Ser)
c.6687A>C
c.14516A>C (p.Tyr4839Ser)
c.14465A>C (p.Tyr4822Ser)
n.1027A>C
c.14570A>C (p.Tyr4857Ser)
c.14567A>C (p.Tyr4856Ser)
c.14546A>C (p.Tyr4849Ser)
c.14540A>C (p.Tyr4847Ser)
c.14534A>C (p.Tyr4845Ser)
c.14510A>C (p.Tyr4837Ser)
c.14333A>C (p.Tyr4778Ser)
c.14477A>C (p.Tyr4826Ser)
c.14549A>C (p.Tyr4850Ser)
1g.237819118A>GCA345426286RYR2c.*5608A>G (n.*5608A>G)
c.14498A>G (p.Tyr4833Cys)
c.14537A>G (p.Tyr4846Cys)
c.6687A>G
c.14516A>G (p.Tyr4839Cys)
c.14465A>G (p.Tyr4822Cys)
n.1027A>G
c.14570A>G (p.Tyr4857Cys)
c.14567A>G (p.Tyr4856Cys)
c.14546A>G (p.Tyr4849Cys)
c.14540A>G (p.Tyr4847Cys)
c.14534A>G (p.Tyr4845Cys)
c.14510A>G (p.Tyr4837Cys)
c.14333A>G (p.Tyr4778Cys)
c.14477A>G (p.Tyr4826Cys)
c.14549A>G (p.Tyr4850Cys)
1g.237819118A>TCA345426289RYR2c.*5608A>T (n.*5608A>T)
c.14498A>T (p.Tyr4833Phe)
c.14537A>T (p.Tyr4846Phe)
c.6687A>T
c.14516A>T (p.Tyr4839Phe)
c.14465A>T (p.Tyr4822Phe)
n.1027A>T
c.14570A>T (p.Tyr4857Phe)
c.14567A>T (p.Tyr4856Phe)
c.14546A>T (p.Tyr4849Phe)
c.14540A>T (p.Tyr4847Phe)
c.14534A>T (p.Tyr4845Phe)
c.14510A>T (p.Tyr4837Phe)
c.14333A>T (p.Tyr4778Phe)
c.14477A>T (p.Tyr4826Phe)
c.14549A>T (p.Tyr4850Phe)
1g.237819119T>ACA345426305RYR2c.*5609T>A (n.*5609T>A)
c.14499T>A (p.Tyr4833Ter)
c.14538T>A (p.Tyr4846Ter)
c.6688T>A
c.14517T>A (p.Tyr4839Ter)
c.14466T>A (p.Tyr4822Ter)
n.1028T>A
c.14571T>A (p.Tyr4857Ter)
c.14568T>A (p.Tyr4856Ter)
c.14547T>A (p.Tyr4849Ter)
c.14541T>A (p.Tyr4847Ter)
c.14535T>A (p.Tyr4845Ter)
c.14511T>A (p.Tyr4837Ter)
c.14334T>A (p.Tyr4778Ter)
c.14478T>A (p.Tyr4826Ter)
c.14550T>A (p.Tyr4850Ter)
1g.237819119T>CCA424051804RYR2c.*5609T>C (n.*5609T>C)
c.14499T>C (p.Tyr4833=)
c.14538T>C (p.Tyr4846=)
c.6688T>C
c.14517T>C (p.Tyr4839=)
c.14466T>C (p.Tyr4822=)
n.1028T>C
c.14571T>C (p.Tyr4857=)
c.14568T>C (p.Tyr4856=)
c.14547T>C (p.Tyr4849=)
c.14541T>C (p.Tyr4847=)
c.14535T>C (p.Tyr4845=)
c.14511T>C (p.Tyr4837=)
c.14334T>C (p.Tyr4778=)
c.14478T>C (p.Tyr4826=)
c.14550T>C (p.Tyr4850=)
 ClinVar dbSNP
1g.237819119T>GCA345426307RYR2c.*5609T>G (n.*5609T>G)
c.14499T>G (p.Tyr4833Ter)
c.14538T>G (p.Tyr4846Ter)
c.6688T>G
c.14517T>G (p.Tyr4839Ter)
c.14466T>G (p.Tyr4822Ter)
n.1028T>G
c.14571T>G (p.Tyr4857Ter)
c.14568T>G (p.Tyr4856Ter)
c.14547T>G (p.Tyr4849Ter)
c.14541T>G (p.Tyr4847Ter)
c.14535T>G (p.Tyr4845Ter)
c.14511T>G (p.Tyr4837Ter)
c.14334T>G (p.Tyr4778Ter)
c.14478T>G (p.Tyr4826Ter)
c.14550T>G (p.Tyr4850Ter)
 gnomAD v4
1g.237819120G>ACA345426309RYR2c.*5610G>A (n.*5610G>A)
c.14500G>A (p.Glu4834Lys)
c.14539G>A (p.Glu4847Lys)
c.6689G>A
c.14518G>A (p.Glu4840Lys)
c.14467G>A (p.Glu4823Lys)
n.1029G>A
c.14572G>A (p.Glu4858Lys)
c.14569G>A (p.Glu4857Lys)
c.14548G>A (p.Glu4850Lys)
c.14542G>A (p.Glu4848Lys)
c.14536G>A (p.Glu4846Lys)
c.14512G>A (p.Glu4838Lys)
c.14335G>A (p.Glu4779Lys)
c.14479G>A (p.Glu4827Lys)
c.14551G>A (p.Glu4851Lys)
 gnomAD v4
1g.237819120G>CCA345426311RYR2c.*5610G>C (n.*5610G>C)
c.14500G>C (p.Glu4834Gln)
c.14539G>C (p.Glu4847Gln)
c.6689G>C
c.14518G>C (p.Glu4840Gln)
c.14467G>C (p.Glu4823Gln)
n.1029G>C
c.14572G>C (p.Glu4858Gln)
c.14569G>C (p.Glu4857Gln)
c.14548G>C (p.Glu4850Gln)
c.14542G>C (p.Glu4848Gln)
c.14536G>C (p.Glu4846Gln)
c.14512G>C (p.Glu4838Gln)
c.14335G>C (p.Glu4779Gln)
c.14479G>C (p.Glu4827Gln)
c.14551G>C (p.Glu4851Gln)
1g.237819120G>TCA345426313RYR2c.*5610G>T (n.*5610G>T)
c.14500G>T (p.Glu4834Ter)
c.14539G>T (p.Glu4847Ter)
c.6689G>T
c.14518G>T (p.Glu4840Ter)
c.14467G>T (p.Glu4823Ter)
n.1029G>T
c.14572G>T (p.Glu4858Ter)
c.14569G>T (p.Glu4857Ter)
c.14548G>T (p.Glu4850Ter)
c.14542G>T (p.Glu4848Ter)
c.14536G>T (p.Glu4846Ter)
c.14512G>T (p.Glu4838Ter)
c.14335G>T (p.Glu4779Ter)
c.14479G>T (p.Glu4827Ter)
c.14551G>T (p.Glu4851Ter)
1g.237819121A>CCA345426315RYR2c.*5611A>C (n.*5611A>C)
c.14501A>C (p.Glu4834Ala)
c.14540A>C (p.Glu4847Ala)
c.6690A>C
c.14519A>C (p.Glu4840Ala)
c.14468A>C (p.Glu4823Ala)
n.1030A>C
c.14573A>C (p.Glu4858Ala)
c.14570A>C (p.Glu4857Ala)
c.14549A>C (p.Glu4850Ala)
c.14543A>C (p.Glu4848Ala)
c.14537A>C (p.Glu4846Ala)
c.14513A>C (p.Glu4838Ala)
c.14336A>C (p.Glu4779Ala)
c.14480A>C (p.Glu4827Ala)
c.14552A>C (p.Glu4851Ala)
1g.237819121A>GCA345426316RYR2c.*5611A>G (n.*5611A>G)
c.14501A>G (p.Glu4834Gly)
c.14540A>G (p.Glu4847Gly)
c.6690A>G
c.14519A>G (p.Glu4840Gly)
c.14468A>G (p.Glu4823Gly)
n.1030A>G
c.14573A>G (p.Glu4858Gly)
c.14570A>G (p.Glu4857Gly)
c.14549A>G (p.Glu4850Gly)
c.14543A>G (p.Glu4848Gly)
c.14537A>G (p.Glu4846Gly)
c.14513A>G (p.Glu4838Gly)
c.14336A>G (p.Glu4779Gly)
c.14480A>G (p.Glu4827Gly)
c.14552A>G (p.Glu4851Gly)
1g.237819121A>TCA345426317RYR2c.*5611A>T (n.*5611A>T)
c.14501A>T (p.Glu4834Val)
c.14540A>T (p.Glu4847Val)
c.6690A>T
c.14519A>T (p.Glu4840Val)
c.14468A>T (p.Glu4823Val)
n.1030A>T
c.14573A>T (p.Glu4858Val)
c.14570A>T (p.Glu4857Val)
c.14549A>T (p.Glu4850Val)
c.14543A>T (p.Glu4848Val)
c.14537A>T (p.Glu4846Val)
c.14513A>T (p.Glu4838Val)
c.14336A>T (p.Glu4779Val)
c.14480A>T (p.Glu4827Val)
c.14552A>T (p.Glu4851Val)
1g.237819122G>ACA424051805RYR2c.*5612G>A (n.*5612G>A)
c.14502G>A (p.Glu4834=)
c.14541G>A (p.Glu4847=)
c.6691G>A
c.14520G>A (p.Glu4840=)
c.14469G>A (p.Glu4823=)
n.1031G>A
c.14574G>A (p.Glu4858=)
c.14571G>A (p.Glu4857=)
c.14550G>A (p.Glu4850=)
c.14544G>A (p.Glu4848=)
c.14538G>A (p.Glu4846=)
c.14514G>A (p.Glu4838=)
c.14337G>A (p.Glu4779=)
c.14481G>A (p.Glu4827=)
c.14553G>A (p.Glu4851=)
 dbSNP
1g.237819122G>CCA345426318RYR2c.*5612G>C (n.*5612G>C)
c.14502G>C (p.Glu4834Asp)
c.14541G>C (p.Glu4847Asp)
c.6691G>C
c.14520G>C (p.Glu4840Asp)
c.14469G>C (p.Glu4823Asp)
n.1031G>C
c.14574G>C (p.Glu4858Asp)
c.14571G>C (p.Glu4857Asp)
c.14550G>C (p.Glu4850Asp)
c.14544G>C (p.Glu4848Asp)
c.14538G>C (p.Glu4846Asp)
c.14514G>C (p.Glu4838Asp)
c.14337G>C (p.Glu4779Asp)
c.14481G>C (p.Glu4827Asp)
c.14553G>C (p.Glu4851Asp)
1g.237819122G=CA2487497585RYR2c.*5612G= (n.*5612G=)
c.14502G= (p.Glu4834=)
c.14541G= (p.Glu4847=)
c.6691G=
c.14520G= (p.Glu4840=)
c.14469G= (p.Glu4823=)
n.1031G=
c.14574G= (p.Glu4858=)
c.14571G= (p.Glu4857=)
c.14550G= (p.Glu4850=)
c.14544G= (p.Glu4848=)
c.14538G= (p.Glu4846=)
c.14514G= (p.Glu4838=)
c.14337G= (p.Glu4779=)
c.14481G= (p.Glu4827=)
c.14553G= (p.Glu4851=)
1g.237819122G>TCA345426319RYR2c.*5612G>T (n.*5612G>T)
c.14502G>T (p.Glu4834Asp)
c.14541G>T (p.Glu4847Asp)
c.6691G>T
c.14520G>T (p.Glu4840Asp)
c.14469G>T (p.Glu4823Asp)
n.1031G>T
c.14574G>T (p.Glu4858Asp)
c.14571G>T (p.Glu4857Asp)
c.14550G>T (p.Glu4850Asp)
c.14544G>T (p.Glu4848Asp)
c.14538G>T (p.Glu4846Asp)
c.14514G>T (p.Glu4838Asp)
c.14337G>T (p.Glu4779Asp)
c.14481G>T (p.Glu4827Asp)
c.14553G>T (p.Glu4851Asp)
1g.237819123A>CCA345426324RYR2c.*5613A>C (n.*5613A>C)
c.14503A>C (p.Ile4835Leu)
c.14542A>C (p.Ile4848Leu)
c.6692A>C
c.14521A>C (p.Ile4841Leu)
c.14470A>C (p.Ile4824Leu)
n.1032A>C
c.14575A>C (p.Ile4859Leu)
c.14572A>C (p.Ile4858Leu)
c.14551A>C (p.Ile4851Leu)
c.14545A>C (p.Ile4849Leu)
c.14539A>C (p.Ile4847Leu)
c.14515A>C (p.Ile4839Leu)
c.14338A>C (p.Ile4780Leu)
c.14482A>C (p.Ile4828Leu)
c.14554A>C (p.Ile4852Leu)
1g.237819123A>GCA345426329RYR2c.*5613A>G (n.*5613A>G)
c.14503A>G (p.Ile4835Val)
c.14542A>G (p.Ile4848Val)
c.6692A>G
c.14521A>G (p.Ile4841Val)
c.14470A>G (p.Ile4824Val)
n.1032A>G
c.14575A>G (p.Ile4859Val)
c.14572A>G (p.Ile4858Val)
c.14551A>G (p.Ile4851Val)
c.14545A>G (p.Ile4849Val)
c.14539A>G (p.Ile4847Val)
c.14515A>G (p.Ile4839Val)
c.14338A>G (p.Ile4780Val)
c.14482A>G (p.Ile4828Val)
c.14554A>G (p.Ile4852Val)
1g.237819123A>TCA345426321RYR2c.*5613A>T (n.*5613A>T)
c.14503A>T (p.Ile4835Phe)
c.14542A>T (p.Ile4848Phe)
c.6692A>T
c.14521A>T (p.Ile4841Phe)
c.14470A>T (p.Ile4824Phe)
n.1032A>T
c.14575A>T (p.Ile4859Phe)
c.14572A>T (p.Ile4858Phe)
c.14551A>T (p.Ile4851Phe)
c.14545A>T (p.Ile4849Phe)
c.14539A>T (p.Ile4847Phe)
c.14515A>T (p.Ile4839Phe)
c.14338A>T (p.Ile4780Phe)
c.14482A>T (p.Ile4828Phe)
c.14554A>T (p.Ile4852Phe)
1g.237819124T>ACA345426332RYR2c.*5614T>A (n.*5614T>A)
c.14504T>A (p.Ile4835Asn)
c.14543T>A (p.Ile4848Asn)
c.6693T>A
c.14522T>A (p.Ile4841Asn)
c.14471T>A (p.Ile4824Asn)
n.1033T>A
c.14576T>A (p.Ile4859Asn)
c.14573T>A (p.Ile4858Asn)
c.14552T>A (p.Ile4851Asn)
c.14546T>A (p.Ile4849Asn)
c.14540T>A (p.Ile4847Asn)
c.14516T>A (p.Ile4839Asn)
c.14339T>A (p.Ile4780Asn)
c.14483T>A (p.Ile4828Asn)
c.14555T>A (p.Ile4852Asn)
 gnomAD v4
1g.237819124T>CCA345426339RYR2c.*5614T>C (n.*5614T>C)
c.14504T>C (p.Ile4835Thr)
c.14543T>C (p.Ile4848Thr)
c.6693T>C
c.14522T>C (p.Ile4841Thr)
c.14471T>C (p.Ile4824Thr)
n.1033T>C
c.14576T>C (p.Ile4859Thr)
c.14573T>C (p.Ile4858Thr)
c.14552T>C (p.Ile4851Thr)
c.14546T>C (p.Ile4849Thr)
c.14540T>C (p.Ile4847Thr)
c.14516T>C (p.Ile4839Thr)
c.14339T>C (p.Ile4780Thr)
c.14483T>C (p.Ile4828Thr)
c.14555T>C (p.Ile4852Thr)
 ClinVar
1g.237819124T>GCA345426336RYR2c.*5614T>G (n.*5614T>G)
c.14504T>G (p.Ile4835Ser)
c.14543T>G (p.Ile4848Ser)
c.6693T>G
c.14522T>G (p.Ile4841Ser)
c.14471T>G (p.Ile4824Ser)
n.1033T>G
c.14576T>G (p.Ile4859Ser)
c.14573T>G (p.Ile4858Ser)
c.14552T>G (p.Ile4851Ser)
c.14546T>G (p.Ile4849Ser)
c.14540T>G (p.Ile4847Ser)
c.14516T>G (p.Ile4839Ser)
c.14339T>G (p.Ile4780Ser)
c.14483T>G (p.Ile4828Ser)
c.14555T>G (p.Ile4852Ser)
1g.237819124_237819125delinsTCCA2487497586RYR2c.*5614_*5615delinsTC (n.*5614_*5615delinsTC)
c.14504_14505delinsTC (p.Ile4835=)
c.14543_14544delinsTC (p.Ile4848=)
c.6693_6694delinsTC
c.14522_14523delinsTC (p.Ile4841=)
c.14471_14472delinsTC (p.Ile4824=)
n.1033_1034delinsTC
c.14576_14577delinsTC (p.Ile4859=)
c.14573_14574delinsTC (p.Ile4858=)
c.14552_14553delinsTC (p.Ile4851=)
c.14546_14547delinsTC (p.Ile4849=)
c.14540_14541delinsTC (p.Ile4847=)
c.14516_14517delinsTC (p.Ile4839=)
c.14339_14340delinsTC (p.Ile4780=)
c.14483_14484delinsTC (p.Ile4828=)
c.14555_14556delinsTC (p.Ile4852=)
1g.237819125delCA1013753191RYR2c.*5615del (n.*5615del)
c.14505del (p.Tyr4836IlefsTer20)
c.14544del (p.Tyr4849IlefsTer20)
c.6694del
c.14523del (p.Tyr4842IlefsTer20)
c.14472del (p.Tyr4825IlefsTer20)
n.1034del
c.14577del (p.Tyr4860IlefsTer20)
c.14574del (p.Tyr4859IlefsTer20)
c.14553del (p.Tyr4852IlefsTer20)
c.14547del (p.Tyr4850IlefsTer20)
c.14541del (p.Tyr4848IlefsTer20)
c.14517del (p.Tyr4840IlefsTer20)
c.14340del (p.Tyr4781IlefsTer20)
c.14484del (p.Tyr4829IlefsTer20)
c.14556del (p.Tyr4853IlefsTer20)
 dbSNP gnomAD v3 gnomAD v4
1g.237819125C>ACA424051807RYR2c.*5615C>A (n.*5615C>A)
c.14505C>A (p.Ile4835=)
c.14544C>A (p.Ile4848=)
c.6694C>A
c.14523C>A (p.Ile4841=)
c.14472C>A (p.Ile4824=)
n.1034C>A
c.14577C>A (p.Ile4859=)
c.14574C>A (p.Ile4858=)
c.14553C>A (p.Ile4851=)
c.14547C>A (p.Ile4849=)
c.14541C>A (p.Ile4847=)
c.14517C>A (p.Ile4839=)
c.14340C>A (p.Ile4780=)
c.14484C>A (p.Ile4828=)
c.14556C>A (p.Ile4852=)
1g.237819125C>GCA068365RYR2c.*5615C>G (n.*5615C>G)
c.14505C>G (p.Ile4835Met)
c.14544C>G (p.Ile4848Met)
c.6694C>G
c.14523C>G (p.Ile4841Met)
c.14472C>G (p.Ile4824Met)
n.1034C>G
c.14577C>G (p.Ile4859Met)
c.14574C>G (p.Ile4858Met)
c.14553C>G (p.Ile4851Met)
c.14547C>G (p.Ile4849Met)
c.14541C>G (p.Ile4847Met)
c.14517C>G (p.Ile4839Met)
c.14340C>G (p.Ile4780Met)
c.14484C>G (p.Ile4828Met)
c.14556C>G (p.Ile4852Met)
1g.237819125C>TCA424051806RYR2c.*5615C>T (n.*5615C>T)
c.14505C>T (p.Ile4835=)
c.14544C>T (p.Ile4848=)
c.6694C>T
c.14523C>T (p.Ile4841=)
c.14472C>T (p.Ile4824=)
n.1034C>T
c.14577C>T (p.Ile4859=)
c.14574C>T (p.Ile4858=)
c.14553C>T (p.Ile4851=)
c.14547C>T (p.Ile4849=)
c.14541C>T (p.Ile4847=)
c.14517C>T (p.Ile4839=)
c.14340C>T (p.Ile4780=)
c.14484C>T (p.Ile4828=)
c.14556C>T (p.Ile4852=)
 gnomAD v4 COSMIC COSMIC
1g.237819126T>ACA345426347RYR2c.*5616T>A (n.*5616T>A)
c.14506T>A (p.Tyr4836Asn)
c.14545T>A (p.Tyr4849Asn)
c.6695T>A
c.14524T>A (p.Tyr4842Asn)
c.14473T>A (p.Tyr4825Asn)
n.1035T>A
c.14578T>A (p.Tyr4860Asn)
c.14575T>A (p.Tyr4859Asn)
c.14554T>A (p.Tyr4852Asn)
c.14548T>A (p.Tyr4850Asn)
c.14542T>A (p.Tyr4848Asn)
c.14518T>A (p.Tyr4840Asn)
c.14341T>A (p.Tyr4781Asn)
c.14485T>A (p.Tyr4829Asn)
c.14557T>A (p.Tyr4853Asn)
1g.237819126T>CCA345426350RYR2c.*5616T>C (n.*5616T>C)
c.14506T>C (p.Tyr4836His)
c.14545T>C (p.Tyr4849His)
c.6695T>C
c.14524T>C (p.Tyr4842His)
c.14473T>C (p.Tyr4825His)
n.1035T>C
c.14578T>C (p.Tyr4860His)
c.14575T>C (p.Tyr4859His)
c.14554T>C (p.Tyr4852His)
c.14548T>C (p.Tyr4850His)
c.14542T>C (p.Tyr4848His)
c.14518T>C (p.Tyr4840His)
c.14341T>C (p.Tyr4781His)
c.14485T>C (p.Tyr4829His)
c.14557T>C (p.Tyr4853His)
1g.237819126T>GCA345426356RYR2c.*5616T>G (n.*5616T>G)
c.14506T>G (p.Tyr4836Asp)
c.14545T>G (p.Tyr4849Asp)
c.6695T>G
c.14524T>G (p.Tyr4842Asp)
c.14473T>G (p.Tyr4825Asp)
n.1035T>G
c.14578T>G (p.Tyr4860Asp)
c.14575T>G (p.Tyr4859Asp)
c.14554T>G (p.Tyr4852Asp)
c.14548T>G (p.Tyr4850Asp)
c.14542T>G (p.Tyr4848Asp)
c.14518T>G (p.Tyr4840Asp)
c.14341T>G (p.Tyr4781Asp)
c.14485T>G (p.Tyr4829Asp)
c.14557T>G (p.Tyr4853Asp)
1g.237819127A>CCA345426364RYR2c.*5617A>C (n.*5617A>C)
c.14507A>C (p.Tyr4836Ser)
c.14546A>C (p.Tyr4849Ser)
c.6696A>C
c.14525A>C (p.Tyr4842Ser)
c.14474A>C (p.Tyr4825Ser)
n.1036A>C
c.14579A>C (p.Tyr4860Ser)
c.14576A>C (p.Tyr4859Ser)
c.14555A>C (p.Tyr4852Ser)
c.14549A>C (p.Tyr4850Ser)
c.14543A>C (p.Tyr4848Ser)
c.14519A>C (p.Tyr4840Ser)
c.14342A>C (p.Tyr4781Ser)
c.14486A>C (p.Tyr4829Ser)
c.14558A>C (p.Tyr4853Ser)
1g.237819127A>GCA345426386RYR2c.*5617A>G (n.*5617A>G)
c.14507A>G (p.Tyr4836Cys)
c.14546A>G (p.Tyr4849Cys)
c.6696A>G
c.14525A>G (p.Tyr4842Cys)
c.14474A>G (p.Tyr4825Cys)
n.1036A>G
c.14579A>G (p.Tyr4860Cys)
c.14576A>G (p.Tyr4859Cys)
c.14555A>G (p.Tyr4852Cys)
c.14549A>G (p.Tyr4850Cys)
c.14543A>G (p.Tyr4848Cys)
c.14519A>G (p.Tyr4840Cys)
c.14342A>G (p.Tyr4781Cys)
c.14486A>G (p.Tyr4829Cys)
c.14558A>G (p.Tyr4853Cys)
 gnomAD v4
1g.237819127A>TCA345426394RYR2c.*5617A>T (n.*5617A>T)
c.14507A>T (p.Tyr4836Phe)
c.14546A>T (p.Tyr4849Phe)
c.6696A>T
c.14525A>T (p.Tyr4842Phe)
c.14474A>T (p.Tyr4825Phe)
n.1036A>T
c.14579A>T (p.Tyr4860Phe)
c.14576A>T (p.Tyr4859Phe)
c.14555A>T (p.Tyr4852Phe)
c.14549A>T (p.Tyr4850Phe)
c.14543A>T (p.Tyr4848Phe)
c.14519A>T (p.Tyr4840Phe)
c.14342A>T (p.Tyr4781Phe)
c.14486A>T (p.Tyr4829Phe)
c.14558A>T (p.Tyr4853Phe)
1g.237819128T>ACA345426398RYR2c.*5618T>A (n.*5618T>A)
c.14508T>A (p.Tyr4836Ter)
c.14547T>A (p.Tyr4849Ter)
c.6697T>A
c.14526T>A (p.Tyr4842Ter)
c.14475T>A (p.Tyr4825Ter)
n.1037T>A
c.14580T>A (p.Tyr4860Ter)
c.14577T>A (p.Tyr4859Ter)
c.14556T>A (p.Tyr4852Ter)
c.14550T>A (p.Tyr4850Ter)
c.14544T>A (p.Tyr4848Ter)
c.14520T>A (p.Tyr4840Ter)
c.14343T>A (p.Tyr4781Ter)
c.14487T>A (p.Tyr4829Ter)
c.14559T>A (p.Tyr4853Ter)
1g.237819128T>CCA424051808RYR2c.*5618T>C (n.*5618T>C)
c.14508T>C (p.Tyr4836=)
c.14547T>C (p.Tyr4849=)
c.6697T>C
c.14526T>C (p.Tyr4842=)
c.14475T>C (p.Tyr4825=)
n.1037T>C
c.14580T>C (p.Tyr4860=)
c.14577T>C (p.Tyr4859=)
c.14556T>C (p.Tyr4852=)
c.14550T>C (p.Tyr4850=)
c.14544T>C (p.Tyr4848=)
c.14520T>C (p.Tyr4840=)
c.14343T>C (p.Tyr4781=)
c.14487T>C (p.Tyr4829=)
c.14559T>C (p.Tyr4853=)
 dbSNP gnomAD v3 gnomAD v4
1g.237819128T>GCA345426400RYR2c.*5618T>G (n.*5618T>G)
c.14508T>G (p.Tyr4836Ter)
c.14547T>G (p.Tyr4849Ter)
c.6697T>G
c.14526T>G (p.Tyr4842Ter)
c.14475T>G (p.Tyr4825Ter)
n.1037T>G
c.14580T>G (p.Tyr4860Ter)
c.14577T>G (p.Tyr4859Ter)
c.14556T>G (p.Tyr4852Ter)
c.14550T>G (p.Tyr4850Ter)
c.14544T>G (p.Tyr4848Ter)
c.14520T>G (p.Tyr4840Ter)
c.14343T>G (p.Tyr4781Ter)
c.14487T>G (p.Tyr4829Ter)
c.14559T>G (p.Tyr4853Ter)
1g.237819128T=CA2487497587RYR2c.*5618T= (n.*5618T=)
c.14508T= (p.Tyr4836=)
c.14547T= (p.Tyr4849=)
c.6697T=
c.14526T= (p.Tyr4842=)
c.14475T= (p.Tyr4825=)
n.1037T=
c.14580T= (p.Tyr4860=)
c.14577T= (p.Tyr4859=)
c.14556T= (p.Tyr4852=)
c.14550T= (p.Tyr4850=)
c.14544T= (p.Tyr4848=)
c.14520T= (p.Tyr4840=)
c.14343T= (p.Tyr4781=)
c.14487T= (p.Tyr4829=)
c.14559T= (p.Tyr4853=)
1g.237819129C>ACA424051809RYR2c.*5619C>A (n.*5619C>A)
c.14509C>A (p.Arg4837=)
c.14548C>A (p.Arg4850=)
c.6698C>A
c.14527C>A (p.Arg4843=)
c.14476C>A (p.Arg4826=)
n.1038C>A
c.14581C>A (p.Arg4861=)
c.14578C>A (p.Arg4860=)
c.14557C>A (p.Arg4853=)
c.14551C>A (p.Arg4851=)
c.14545C>A (p.Arg4849=)
c.14521C>A (p.Arg4841=)
c.14344C>A (p.Arg4782=)
c.14488C>A (p.Arg4830=)
c.14560C>A (p.Arg4854=)
 ClinVar dbSNP gnomAD v4
1g.237819129C=CA2487497588RYR2c.*5619C= (n.*5619C=)
c.14509C= (p.Arg4837=)
c.14548C= (p.Arg4850=)
c.6698C=
c.14527C= (p.Arg4843=)
c.14476C= (p.Arg4826=)
n.1038C=
c.14581C= (p.Arg4861=)
c.14578C= (p.Arg4860=)
c.14557C= (p.Arg4853=)
c.14551C= (p.Arg4851=)
c.14545C= (p.Arg4849=)
c.14521C= (p.Arg4841=)
c.14344C= (p.Arg4782=)
c.14488C= (p.Arg4830=)
c.14560C= (p.Arg4854=)
1g.237819129C>GCA345426411RYR2c.*5619C>G (n.*5619C>G)
c.14509C>G (p.Arg4837Gly)
c.14548C>G (p.Arg4850Gly)
c.6698C>G
c.14527C>G (p.Arg4843Gly)
c.14476C>G (p.Arg4826Gly)
n.1038C>G
c.14581C>G (p.Arg4861Gly)
c.14578C>G (p.Arg4860Gly)
c.14557C>G (p.Arg4853Gly)
c.14551C>G (p.Arg4851Gly)
c.14545C>G (p.Arg4849Gly)
c.14521C>G (p.Arg4841Gly)
c.14344C>G (p.Arg4782Gly)
c.14488C>G (p.Arg4830Gly)
c.14560C>G (p.Arg4854Gly)
1g.237819129C>TCA345426421RYR2c.*5619C>T (n.*5619C>T)
c.14509C>T (p.Arg4837Ter)
c.14548C>T (p.Arg4850Ter)
c.6698C>T
c.14527C>T (p.Arg4843Ter)
c.14476C>T (p.Arg4826Ter)
n.1038C>T
c.14581C>T (p.Arg4861Ter)
c.14578C>T (p.Arg4860Ter)
c.14557C>T (p.Arg4853Ter)
c.14551C>T (p.Arg4851Ter)
c.14545C>T (p.Arg4849Ter)
c.14521C>T (p.Arg4841Ter)
c.14344C>T (p.Arg4782Ter)
c.14488C>T (p.Arg4830Ter)
c.14560C>T (p.Arg4854Ter)
 gnomAD v4 COSMIC COSMIC
1g.237819130G>ACA345426425RYR2c.*5620G>A (n.*5620G>A)
c.14510G>A (p.Arg4837Gln)
c.14549G>A (p.Arg4850Gln)
c.6699G>A
c.14528G>A (p.Arg4843Gln)
c.14477G>A (p.Arg4826Gln)
n.1039G>A
c.14582G>A (p.Arg4861Gln)
c.14579G>A (p.Arg4860Gln)
c.14558G>A (p.Arg4853Gln)
c.14552G>A (p.Arg4851Gln)
c.14546G>A (p.Arg4849Gln)
c.14522G>A (p.Arg4841Gln)
c.14345G>A (p.Arg4782Gln)
c.14489G>A (p.Arg4830Gln)
c.14561G>A (p.Arg4854Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237819130G>CCA345426423RYR2c.*5620G>C (n.*5620G>C)
c.14510G>C (p.Arg4837Pro)
c.14549G>C (p.Arg4850Pro)
c.6699G>C
c.14528G>C (p.Arg4843Pro)
c.14477G>C (p.Arg4826Pro)
n.1039G>C
c.14582G>C (p.Arg4861Pro)
c.14579G>C (p.Arg4860Pro)
c.14558G>C (p.Arg4853Pro)
c.14552G>C (p.Arg4851Pro)
c.14546G>C (p.Arg4849Pro)
c.14522G>C (p.Arg4841Pro)
c.14345G>C (p.Arg4782Pro)
c.14489G>C (p.Arg4830Pro)
c.14561G>C (p.Arg4854Pro)
1g.237819130G=CA2487497589RYR2c.*5620G= (n.*5620G=)
c.14510G= (p.Arg4837=)
c.14549G= (p.Arg4850=)
c.6699G=
c.14528G= (p.Arg4843=)
c.14477G= (p.Arg4826=)
n.1039G=
c.14582G= (p.Arg4861=)
c.14579G= (p.Arg4860=)
c.14558G= (p.Arg4853=)
c.14552G= (p.Arg4851=)
c.14546G= (p.Arg4849=)
c.14522G= (p.Arg4841=)
c.14345G= (p.Arg4782=)
c.14489G= (p.Arg4830=)
c.14561G= (p.Arg4854=)
1g.237819130G>TCA345426424RYR2c.*5620G>T (n.*5620G>T)
c.14510G>T (p.Arg4837Leu)
c.14549G>T (p.Arg4850Leu)
c.6699G>T
c.14528G>T (p.Arg4843Leu)
c.14477G>T (p.Arg4826Leu)
n.1039G>T
c.14582G>T (p.Arg4861Leu)
c.14579G>T (p.Arg4860Leu)
c.14558G>T (p.Arg4853Leu)
c.14552G>T (p.Arg4851Leu)
c.14546G>T (p.Arg4849Leu)
c.14522G>T (p.Arg4841Leu)
c.14345G>T (p.Arg4782Leu)
c.14489G>T (p.Arg4830Leu)
c.14561G>T (p.Arg4854Leu)
1g.237819131A>CCA424051810RYR2c.*5621A>C (n.*5621A>C)
c.14511A>C (p.Arg4837=)
c.14550A>C (p.Arg4850=)
c.6700A>C
c.14529A>C (p.Arg4843=)
c.14478A>C (p.Arg4826=)
n.1040A>C
c.14583A>C (p.Arg4861=)
c.14580A>C (p.Arg4860=)
c.14559A>C (p.Arg4853=)
c.14553A>C (p.Arg4851=)
c.14547A>C (p.Arg4849=)
c.14523A>C (p.Arg4841=)
c.14346A>C (p.Arg4782=)
c.14490A>C (p.Arg4830=)
c.14562A>C (p.Arg4854=)
1g.237819131A>GCA424051811RYR2c.*5621A>G (n.*5621A>G)
c.14511A>G (p.Arg4837=)
c.14550A>G (p.Arg4850=)
c.6700A>G
c.14529A>G (p.Arg4843=)
c.14478A>G (p.Arg4826=)
n.1040A>G
c.14583A>G (p.Arg4861=)
c.14580A>G (p.Arg4860=)
c.14559A>G (p.Arg4853=)
c.14553A>G (p.Arg4851=)
c.14547A>G (p.Arg4849=)
c.14523A>G (p.Arg4841=)
c.14346A>G (p.Arg4782=)
c.14490A>G (p.Arg4830=)
c.14562A>G (p.Arg4854=)
1g.237819131A>TCA424051812RYR2c.*5621A>T (n.*5621A>T)
c.14511A>T (p.Arg4837=)
c.14550A>T (p.Arg4850=)
c.6700A>T
c.14529A>T (p.Arg4843=)
c.14478A>T (p.Arg4826=)
n.1040A>T
c.14583A>T (p.Arg4861=)
c.14580A>T (p.Arg4860=)
c.14559A>T (p.Arg4853=)
c.14553A>T (p.Arg4851=)
c.14547A>T (p.Arg4849=)
c.14523A>T (p.Arg4841=)
c.14346A>T (p.Arg4782=)
c.14490A>T (p.Arg4830=)
c.14562A>T (p.Arg4854=)
1g.237819132A>CCA345426426RYR2c.*5622A>C (n.*5622A>C)
c.14512A>C (p.Ile4838Leu)
c.14551A>C (p.Ile4851Leu)
c.6701A>C
c.14530A>C (p.Ile4844Leu)
c.14479A>C (p.Ile4827Leu)
n.1041A>C
c.14584A>C (p.Ile4862Leu)
c.14581A>C (p.Ile4861Leu)
c.14560A>C (p.Ile4854Leu)
c.14554A>C (p.Ile4852Leu)
c.14548A>C (p.Ile4850Leu)
c.14524A>C (p.Ile4842Leu)
c.14347A>C (p.Ile4783Leu)
c.14491A>C (p.Ile4831Leu)
c.14563A>C (p.Ile4855Leu)
1g.237819132A>GCA345426427RYR2c.*5622A>G (n.*5622A>G)
c.14512A>G (p.Ile4838Val)
c.14551A>G (p.Ile4851Val)
c.6701A>G
c.14530A>G (p.Ile4844Val)
c.14479A>G (p.Ile4827Val)
n.1041A>G
c.14584A>G (p.Ile4862Val)
c.14581A>G (p.Ile4861Val)
c.14560A>G (p.Ile4854Val)
c.14554A>G (p.Ile4852Val)
c.14548A>G (p.Ile4850Val)
c.14524A>G (p.Ile4842Val)
c.14347A>G (p.Ile4783Val)
c.14491A>G (p.Ile4831Val)
c.14563A>G (p.Ile4855Val)
1g.237819132A>TCA345426429RYR2c.*5622A>T (n.*5622A>T)
c.14512A>T (p.Ile4838Phe)
c.14551A>T (p.Ile4851Phe)
c.6701A>T
c.14530A>T (p.Ile4844Phe)
c.14479A>T (p.Ile4827Phe)
n.1041A>T
c.14584A>T (p.Ile4862Phe)
c.14581A>T (p.Ile4861Phe)
c.14560A>T (p.Ile4854Phe)
c.14554A>T (p.Ile4852Phe)
c.14548A>T (p.Ile4850Phe)
c.14524A>T (p.Ile4842Phe)
c.14347A>T (p.Ile4783Phe)
c.14491A>T (p.Ile4831Phe)
c.14563A>T (p.Ile4855Phe)
 gnomAD v4
1g.237819133T>ACA345426431RYR2c.*5623T>A (n.*5623T>A)
c.14513T>A (p.Ile4838Asn)
c.14552T>A (p.Ile4851Asn)
c.6702T>A
c.14531T>A (p.Ile4844Asn)
c.14480T>A (p.Ile4827Asn)
n.1042T>A
c.14585T>A (p.Ile4862Asn)
c.14582T>A (p.Ile4861Asn)
c.14561T>A (p.Ile4854Asn)
c.14555T>A (p.Ile4852Asn)
c.14549T>A (p.Ile4850Asn)
c.14525T>A (p.Ile4842Asn)
c.14348T>A (p.Ile4783Asn)
c.14492T>A (p.Ile4831Asn)
c.14564T>A (p.Ile4855Asn)
1g.237819133T>CCA345426438RYR2c.*5623T>C (n.*5623T>C)
c.14513T>C (p.Ile4838Thr)
c.14552T>C (p.Ile4851Thr)
c.6702T>C
c.14531T>C (p.Ile4844Thr)
c.14480T>C (p.Ile4827Thr)
n.1042T>C
c.14585T>C (p.Ile4862Thr)
c.14582T>C (p.Ile4861Thr)
c.14561T>C (p.Ile4854Thr)
c.14555T>C (p.Ile4852Thr)
c.14549T>C (p.Ile4850Thr)
c.14525T>C (p.Ile4842Thr)
c.14348T>C (p.Ile4783Thr)
c.14492T>C (p.Ile4831Thr)
c.14564T>C (p.Ile4855Thr)
1g.237819133T>GCA345426439RYR2c.*5623T>G (n.*5623T>G)
c.14513T>G (p.Ile4838Ser)
c.14552T>G (p.Ile4851Ser)
c.6702T>G
c.14531T>G (p.Ile4844Ser)
c.14480T>G (p.Ile4827Ser)
n.1042T>G
c.14585T>G (p.Ile4862Ser)
c.14582T>G (p.Ile4861Ser)
c.14561T>G (p.Ile4854Ser)
c.14555T>G (p.Ile4852Ser)
c.14549T>G (p.Ile4850Ser)
c.14525T>G (p.Ile4842Ser)
c.14348T>G (p.Ile4783Ser)
c.14492T>G (p.Ile4831Ser)
c.14564T>G (p.Ile4855Ser)
1g.237819134C>ACA424051813RYR2c.*5624C>A (n.*5624C>A)
c.14514C>A (p.Ile4838=)
c.14553C>A (p.Ile4851=)
c.6703C>A
c.14532C>A (p.Ile4844=)
c.14481C>A (p.Ile4827=)
n.1043C>A
c.14586C>A (p.Ile4862=)
c.14583C>A (p.Ile4861=)
c.14562C>A (p.Ile4854=)
c.14556C>A (p.Ile4852=)
c.14550C>A (p.Ile4850=)
c.14526C>A (p.Ile4842=)
c.14349C>A (p.Ile4783=)
c.14493C>A (p.Ile4831=)
c.14565C>A (p.Ile4855=)
1g.237819134C>GCA345426444RYR2c.*5624C>G (n.*5624C>G)
c.14514C>G (p.Ile4838Met)
c.14553C>G (p.Ile4851Met)
c.6703C>G
c.14532C>G (p.Ile4844Met)
c.14481C>G (p.Ile4827Met)
n.1043C>G
c.14586C>G (p.Ile4862Met)
c.14583C>G (p.Ile4861Met)
c.14562C>G (p.Ile4854Met)
c.14556C>G (p.Ile4852Met)
c.14550C>G (p.Ile4850Met)
c.14526C>G (p.Ile4842Met)
c.14349C>G (p.Ile4783Met)
c.14493C>G (p.Ile4831Met)
c.14565C>G (p.Ile4855Met)
1g.237819134C>TCA424051814RYR2c.*5624C>T (n.*5624C>T)
c.14514C>T (p.Ile4838=)
c.14553C>T (p.Ile4851=)
c.6703C>T
c.14532C>T (p.Ile4844=)
c.14481C>T (p.Ile4827=)
n.1043C>T
c.14586C>T (p.Ile4862=)
c.14583C>T (p.Ile4861=)
c.14562C>T (p.Ile4854=)
c.14556C>T (p.Ile4852=)
c.14550C>T (p.Ile4850=)
c.14526C>T (p.Ile4842=)
c.14349C>T (p.Ile4783=)
c.14493C>T (p.Ile4831=)
c.14565C>T (p.Ile4855=)
1g.237819135A>CCA345426447RYR2c.*5625A>C (n.*5625A>C)
c.14515A>C (p.Ile4839Leu)
c.14554A>C (p.Ile4852Leu)
c.6704A>C
c.14533A>C (p.Ile4845Leu)
c.14482A>C (p.Ile4828Leu)
n.1044A>C
c.14587A>C (p.Ile4863Leu)
c.14584A>C (p.Ile4862Leu)
c.14563A>C (p.Ile4855Leu)
c.14557A>C (p.Ile4853Leu)
c.14551A>C (p.Ile4851Leu)
c.14527A>C (p.Ile4843Leu)
c.14350A>C (p.Ile4784Leu)
c.14494A>C (p.Ile4832Leu)
c.14566A>C (p.Ile4856Leu)
1g.237819135A>GCA345426450RYR2c.*5625A>G (n.*5625A>G)
c.14515A>G (p.Ile4839Val)
c.14554A>G (p.Ile4852Val)
c.6704A>G
c.14533A>G (p.Ile4845Val)
c.14482A>G (p.Ile4828Val)
n.1044A>G
c.14587A>G (p.Ile4863Val)
c.14584A>G (p.Ile4862Val)
c.14563A>G (p.Ile4855Val)
c.14557A>G (p.Ile4853Val)
c.14551A>G (p.Ile4851Val)
c.14527A>G (p.Ile4843Val)
c.14350A>G (p.Ile4784Val)
c.14494A>G (p.Ile4832Val)
c.14566A>G (p.Ile4856Val)
1g.237819135A>TCA345426454RYR2c.*5625A>T (n.*5625A>T)
c.14515A>T (p.Ile4839Phe)
c.14554A>T (p.Ile4852Phe)
c.6704A>T
c.14533A>T (p.Ile4845Phe)
c.14482A>T (p.Ile4828Phe)
n.1044A>T
c.14587A>T (p.Ile4863Phe)
c.14584A>T (p.Ile4862Phe)
c.14563A>T (p.Ile4855Phe)
c.14557A>T (p.Ile4853Phe)
c.14551A>T (p.Ile4851Phe)
c.14527A>T (p.Ile4843Phe)
c.14350A>T (p.Ile4784Phe)
c.14494A>T (p.Ile4832Phe)
c.14566A>T (p.Ile4856Phe)
1g.237819136T>ACA345426463RYR2c.*5626T>A (n.*5626T>A)
c.14516T>A (p.Ile4839Asn)
c.14555T>A (p.Ile4852Asn)
c.6705T>A
c.14534T>A (p.Ile4845Asn)
c.14483T>A (p.Ile4828Asn)
n.1045T>A
c.14588T>A (p.Ile4863Asn)
c.14585T>A (p.Ile4862Asn)
c.14564T>A (p.Ile4855Asn)
c.14558T>A (p.Ile4853Asn)
c.14552T>A (p.Ile4851Asn)
c.14528T>A (p.Ile4843Asn)
c.14351T>A (p.Ile4784Asn)
c.14495T>A (p.Ile4832Asn)
c.14567T>A (p.Ile4856Asn)
1g.237819136T>CCA345426467RYR2c.*5626T>C (n.*5626T>C)
c.14516T>C (p.Ile4839Thr)
c.14555T>C (p.Ile4852Thr)
c.6705T>C
c.14534T>C (p.Ile4845Thr)
c.14483T>C (p.Ile4828Thr)
n.1045T>C
c.14588T>C (p.Ile4863Thr)
c.14585T>C (p.Ile4862Thr)
c.14564T>C (p.Ile4855Thr)
c.14558T>C (p.Ile4853Thr)
c.14552T>C (p.Ile4851Thr)
c.14528T>C (p.Ile4843Thr)
c.14351T>C (p.Ile4784Thr)
c.14495T>C (p.Ile4832Thr)
c.14567T>C (p.Ile4856Thr)
 gnomAD v4
1g.237819136T>GCA345426457RYR2c.*5626T>G (n.*5626T>G)
c.14516T>G (p.Ile4839Ser)
c.14555T>G (p.Ile4852Ser)
c.6705T>G
c.14534T>G (p.Ile4845Ser)
c.14483T>G (p.Ile4828Ser)
n.1045T>G
c.14588T>G (p.Ile4863Ser)
c.14585T>G (p.Ile4862Ser)
c.14564T>G (p.Ile4855Ser)
c.14558T>G (p.Ile4853Ser)
c.14552T>G (p.Ile4851Ser)
c.14528T>G (p.Ile4843Ser)
c.14351T>G (p.Ile4784Ser)
c.14495T>G (p.Ile4832Ser)
c.14567T>G (p.Ile4856Ser)
1g.237819137C>ACA424051815RYR2c.*5627C>A (n.*5627C>A)
c.14517C>A (p.Ile4839=)
c.14556C>A (p.Ile4852=)
c.6706C>A
c.14535C>A (p.Ile4845=)
c.14484C>A (p.Ile4828=)
n.1046C>A
c.14589C>A (p.Ile4863=)
c.14586C>A (p.Ile4862=)
c.14565C>A (p.Ile4855=)
c.14559C>A (p.Ile4853=)
c.14553C>A (p.Ile4851=)
c.14529C>A (p.Ile4843=)
c.14352C>A (p.Ile4784=)
c.14496C>A (p.Ile4832=)
c.14568C>A (p.Ile4856=)
1g.237819137C>GCA345426469RYR2c.*5627C>G (n.*5627C>G)
c.14517C>G (p.Ile4839Met)
c.14556C>G (p.Ile4852Met)
c.6706C>G
c.14535C>G (p.Ile4845Met)
c.14484C>G (p.Ile4828Met)
n.1046C>G
c.14589C>G (p.Ile4863Met)
c.14586C>G (p.Ile4862Met)
c.14565C>G (p.Ile4855Met)
c.14559C>G (p.Ile4853Met)
c.14553C>G (p.Ile4851Met)
c.14529C>G (p.Ile4843Met)
c.14352C>G (p.Ile4784Met)
c.14496C>G (p.Ile4832Met)
c.14568C>G (p.Ile4856Met)
1g.237819137C>TCA424051816RYR2c.*5627C>T (n.*5627C>T)
c.14517C>T (p.Ile4839=)
c.14556C>T (p.Ile4852=)
c.6706C>T
c.14535C>T (p.Ile4845=)
c.14484C>T (p.Ile4828=)
n.1046C>T
c.14589C>T (p.Ile4863=)
c.14586C>T (p.Ile4862=)
c.14565C>T (p.Ile4855=)
c.14559C>T (p.Ile4853=)
c.14553C>T (p.Ile4851=)
c.14529C>T (p.Ile4843=)
c.14352C>T (p.Ile4784=)
c.14496C>T (p.Ile4832=)
c.14568C>T (p.Ile4856=)
1g.237819138T>ACA345426475RYR2c.*5628T>A (n.*5628T>A)
c.14518T>A (p.Phe4840Ile)
c.14557T>A (p.Phe4853Ile)
c.6707T>A
c.14536T>A (p.Phe4846Ile)
c.14485T>A (p.Phe4829Ile)
n.1047T>A
c.14590T>A (p.Phe4864Ile)
c.14587T>A (p.Phe4863Ile)
c.14566T>A (p.Phe4856Ile)
c.14560T>A (p.Phe4854Ile)
c.14554T>A (p.Phe4852Ile)
c.14530T>A (p.Phe4844Ile)
c.14353T>A (p.Phe4785Ile)
c.14497T>A (p.Phe4833Ile)
c.14569T>A (p.Phe4857Ile)
1g.237819138T>CCA345426478RYR2c.*5628T>C (n.*5628T>C)
c.14518T>C (p.Phe4840Leu)
c.14557T>C (p.Phe4853Leu)
c.6707T>C
c.14536T>C (p.Phe4846Leu)
c.14485T>C (p.Phe4829Leu)
n.1047T>C
c.14590T>C (p.Phe4864Leu)
c.14587T>C (p.Phe4863Leu)
c.14566T>C (p.Phe4856Leu)
c.14560T>C (p.Phe4854Leu)
c.14554T>C (p.Phe4852Leu)
c.14530T>C (p.Phe4844Leu)
c.14353T>C (p.Phe4785Leu)
c.14497T>C (p.Phe4833Leu)
c.14569T>C (p.Phe4857Leu)
1g.237819138T>GCA345426479RYR2c.*5628T>G (n.*5628T>G)
c.14518T>G (p.Phe4840Val)
c.14557T>G (p.Phe4853Val)
c.6707T>G
c.14536T>G (p.Phe4846Val)
c.14485T>G (p.Phe4829Val)
n.1047T>G
c.14590T>G (p.Phe4864Val)
c.14587T>G (p.Phe4863Val)
c.14566T>G (p.Phe4856Val)
c.14560T>G (p.Phe4854Val)
c.14554T>G (p.Phe4852Val)
c.14530T>G (p.Phe4844Val)
c.14353T>G (p.Phe4785Val)
c.14497T>G (p.Phe4833Val)
c.14569T>G (p.Phe4857Val)
1g.237819139T>ACA345426480RYR2c.*5629T>A (n.*5629T>A)
c.14519T>A (p.Phe4840Tyr)
c.14558T>A (p.Phe4853Tyr)
c.6708T>A
c.14537T>A (p.Phe4846Tyr)
c.14486T>A (p.Phe4829Tyr)
n.1048T>A
c.14591T>A (p.Phe4864Tyr)
c.14588T>A (p.Phe4863Tyr)
c.14567T>A (p.Phe4856Tyr)
c.14561T>A (p.Phe4854Tyr)
c.14555T>A (p.Phe4852Tyr)
c.14531T>A (p.Phe4844Tyr)
c.14354T>A (p.Phe4785Tyr)
c.14498T>A (p.Phe4833Tyr)
c.14570T>A (p.Phe4857Tyr)
1g.237819139T>CCA345426481RYR2c.*5629T>C (n.*5629T>C)
c.14519T>C (p.Phe4840Ser)
c.14558T>C (p.Phe4853Ser)
c.6708T>C
c.14537T>C (p.Phe4846Ser)
c.14486T>C (p.Phe4829Ser)
n.1048T>C
c.14591T>C (p.Phe4864Ser)
c.14588T>C (p.Phe4863Ser)
c.14567T>C (p.Phe4856Ser)
c.14561T>C (p.Phe4854Ser)
c.14555T>C (p.Phe4852Ser)
c.14531T>C (p.Phe4844Ser)
c.14354T>C (p.Phe4785Ser)
c.14498T>C (p.Phe4833Ser)
c.14570T>C (p.Phe4857Ser)
1g.237819139T>GCA345426482RYR2c.*5629T>G (n.*5629T>G)
c.14519T>G (p.Phe4840Cys)
c.14558T>G (p.Phe4853Cys)
c.6708T>G
c.14537T>G (p.Phe4846Cys)
c.14486T>G (p.Phe4829Cys)
n.1048T>G
c.14591T>G (p.Phe4864Cys)
c.14588T>G (p.Phe4863Cys)
c.14567T>G (p.Phe4856Cys)
c.14561T>G (p.Phe4854Cys)
c.14555T>G (p.Phe4852Cys)
c.14531T>G (p.Phe4844Cys)
c.14354T>G (p.Phe4785Cys)
c.14498T>G (p.Phe4833Cys)
c.14570T>G (p.Phe4857Cys)
1g.237819140T>ACA345426483RYR2c.*5630T>A (n.*5630T>A)
c.14520T>A (p.Phe4840Leu)
c.14559T>A (p.Phe4853Leu)
c.6709T>A
c.14538T>A (p.Phe4846Leu)
c.14487T>A (p.Phe4829Leu)
n.1049T>A
c.14592T>A (p.Phe4864Leu)
c.14589T>A (p.Phe4863Leu)
c.14568T>A (p.Phe4856Leu)
c.14562T>A (p.Phe4854Leu)
c.14556T>A (p.Phe4852Leu)
c.14532T>A (p.Phe4844Leu)
c.14355T>A (p.Phe4785Leu)
c.14499T>A (p.Phe4833Leu)
c.14571T>A (p.Phe4857Leu)
1g.237819140T>CCA424051817RYR2c.*5630T>C (n.*5630T>C)
c.14520T>C (p.Phe4840=)
c.14559T>C (p.Phe4853=)
c.6709T>C
c.14538T>C (p.Phe4846=)
c.14487T>C (p.Phe4829=)
n.1049T>C
c.14592T>C (p.Phe4864=)
c.14589T>C (p.Phe4863=)
c.14568T>C (p.Phe4856=)
c.14562T>C (p.Phe4854=)
c.14556T>C (p.Phe4852=)
c.14532T>C (p.Phe4844=)
c.14355T>C (p.Phe4785=)
c.14499T>C (p.Phe4833=)
c.14571T>C (p.Phe4857=)
 COSMIC COSMIC
1g.237819140T>GCA345426486RYR2c.*5630T>G (n.*5630T>G)
c.14520T>G (p.Phe4840Leu)
c.14559T>G (p.Phe4853Leu)
c.6709T>G
c.14538T>G (p.Phe4846Leu)
c.14487T>G (p.Phe4829Leu)
n.1049T>G
c.14592T>G (p.Phe4864Leu)
c.14589T>G (p.Phe4863Leu)
c.14568T>G (p.Phe4856Leu)
c.14562T>G (p.Phe4854Leu)
c.14556T>G (p.Phe4852Leu)
c.14532T>G (p.Phe4844Leu)
c.14355T>G (p.Phe4785Leu)
c.14499T>G (p.Phe4833Leu)
c.14571T>G (p.Phe4857Leu)
1g.237819141G>ACA345426488RYR2c.*5631G>A (n.*5631G>A)
c.14521G>A (p.Asp4841Asn)
c.14560G>A (p.Asp4854Asn)
c.6710G>A
c.14539G>A (p.Asp4847Asn)
c.14488G>A (p.Asp4830Asn)
n.1050G>A
c.14593G>A (p.Asp4865Asn)
c.14590G>A (p.Asp4864Asn)
c.14569G>A (p.Asp4857Asn)
c.14563G>A (p.Asp4855Asn)
c.14557G>A (p.Asp4853Asn)
c.14533G>A (p.Asp4845Asn)
c.14356G>A (p.Asp4786Asn)
c.14500G>A (p.Asp4834Asn)
c.14572G>A (p.Asp4858Asn)
1g.237819141G>CCA345426491RYR2c.*5631G>C (n.*5631G>C)
c.14521G>C (p.Asp4841His)
c.14560G>C (p.Asp4854His)
c.6710G>C
c.14539G>C (p.Asp4847His)
c.14488G>C (p.Asp4830His)
n.1050G>C
c.14593G>C (p.Asp4865His)
c.14590G>C (p.Asp4864His)
c.14569G>C (p.Asp4857His)
c.14563G>C (p.Asp4855His)
c.14557G>C (p.Asp4853His)
c.14533G>C (p.Asp4845His)
c.14356G>C (p.Asp4786His)
c.14500G>C (p.Asp4834His)
c.14572G>C (p.Asp4858His)
1g.237819141G>TCA345426494RYR2c.*5631G>T (n.*5631G>T)
c.14521G>T (p.Asp4841Tyr)
c.14560G>T (p.Asp4854Tyr)
c.6710G>T
c.14539G>T (p.Asp4847Tyr)
c.14488G>T (p.Asp4830Tyr)
n.1050G>T
c.14593G>T (p.Asp4865Tyr)
c.14590G>T (p.Asp4864Tyr)
c.14569G>T (p.Asp4857Tyr)
c.14563G>T (p.Asp4855Tyr)
c.14557G>T (p.Asp4853Tyr)
c.14533G>T (p.Asp4845Tyr)
c.14356G>T (p.Asp4786Tyr)
c.14500G>T (p.Asp4834Tyr)
c.14572G>T (p.Asp4858Tyr)
1g.237819142A>CCA345426502RYR2c.*5632A>C (n.*5632A>C)
c.14522A>C (p.Asp4841Ala)
c.14561A>C (p.Asp4854Ala)
c.6711A>C
c.14540A>C (p.Asp4847Ala)
c.14489A>C (p.Asp4830Ala)
n.1051A>C
c.14594A>C (p.Asp4865Ala)
c.14591A>C (p.Asp4864Ala)
c.14570A>C (p.Asp4857Ala)
c.14564A>C (p.Asp4855Ala)
c.14558A>C (p.Asp4853Ala)
c.14534A>C (p.Asp4845Ala)
c.14357A>C (p.Asp4786Ala)
c.14501A>C (p.Asp4834Ala)
c.14573A>C (p.Asp4858Ala)
1g.237819142A>GCA345426497RYR2c.*5632A>G (n.*5632A>G)
c.14522A>G (p.Asp4841Gly)
c.14561A>G (p.Asp4854Gly)
c.6711A>G
c.14540A>G (p.Asp4847Gly)
c.14489A>G (p.Asp4830Gly)
n.1051A>G
c.14594A>G (p.Asp4865Gly)
c.14591A>G (p.Asp4864Gly)
c.14570A>G (p.Asp4857Gly)
c.14564A>G (p.Asp4855Gly)
c.14558A>G (p.Asp4853Gly)
c.14534A>G (p.Asp4845Gly)
c.14357A>G (p.Asp4786Gly)
c.14501A>G (p.Asp4834Gly)
c.14573A>G (p.Asp4858Gly)
1g.237819142A>TCA345426499RYR2c.*5632A>T (n.*5632A>T)
c.14522A>T (p.Asp4841Val)
c.14561A>T (p.Asp4854Val)
c.6711A>T
c.14540A>T (p.Asp4847Val)
c.14489A>T (p.Asp4830Val)
n.1051A>T
c.14594A>T (p.Asp4865Val)
c.14591A>T (p.Asp4864Val)
c.14570A>T (p.Asp4857Val)
c.14564A>T (p.Asp4855Val)
c.14558A>T (p.Asp4853Val)
c.14534A>T (p.Asp4845Val)
c.14357A>T (p.Asp4786Val)
c.14501A>T (p.Asp4834Val)
c.14573A>T (p.Asp4858Val)
1g.237819143C>ACA345426506RYR2c.*5633C>A (n.*5633C>A)
c.14523C>A (p.Asp4841Glu)
c.14562C>A (p.Asp4854Glu)
c.6712C>A
c.14541C>A (p.Asp4847Glu)
c.14490C>A (p.Asp4830Glu)
n.1052C>A
c.14595C>A (p.Asp4865Glu)
c.14592C>A (p.Asp4864Glu)
c.14571C>A (p.Asp4857Glu)
c.14565C>A (p.Asp4855Glu)
c.14559C>A (p.Asp4853Glu)
c.14535C>A (p.Asp4845Glu)
c.14358C>A (p.Asp4786Glu)
c.14502C>A (p.Asp4834Glu)
c.14574C>A (p.Asp4858Glu)
1g.237819143C>GCA345426510RYR2c.*5633C>G (n.*5633C>G)
c.14523C>G (p.Asp4841Glu)
c.14562C>G (p.Asp4854Glu)
c.6712C>G
c.14541C>G (p.Asp4847Glu)
c.14490C>G (p.Asp4830Glu)
n.1052C>G
c.14595C>G (p.Asp4865Glu)
c.14592C>G (p.Asp4864Glu)
c.14571C>G (p.Asp4857Glu)
c.14565C>G (p.Asp4855Glu)
c.14559C>G (p.Asp4853Glu)
c.14535C>G (p.Asp4845Glu)
c.14358C>G (p.Asp4786Glu)
c.14502C>G (p.Asp4834Glu)
c.14574C>G (p.Asp4858Glu)
1g.237819143C>TCA424051818RYR2c.*5633C>T (n.*5633C>T)
c.14523C>T (p.Asp4841=)
c.14562C>T (p.Asp4854=)
c.6712C>T
c.14541C>T (p.Asp4847=)
c.14490C>T (p.Asp4830=)
n.1052C>T
c.14595C>T (p.Asp4865=)
c.14592C>T (p.Asp4864=)
c.14571C>T (p.Asp4857=)
c.14565C>T (p.Asp4855=)
c.14559C>T (p.Asp4853=)
c.14535C>T (p.Asp4845=)
c.14358C>T (p.Asp4786=)
c.14502C>T (p.Asp4834=)
c.14574C>T (p.Asp4858=)
1g.237819144A=CA2487497590RYR2c.*5634A= (n.*5634A=)
c.14524A= (p.Ile4842=)
c.14563A= (p.Ile4855=)
c.6713A=
c.14542A= (p.Ile4848=)
c.14491A= (p.Ile4831=)
n.1053A=
c.14596A= (p.Ile4866=)
c.14593A= (p.Ile4865=)
c.14572A= (p.Ile4858=)
c.14566A= (p.Ile4856=)
c.14560A= (p.Ile4854=)
c.14536A= (p.Ile4846=)
c.14359A= (p.Ile4787=)
c.14503A= (p.Ile4835=)
c.14575A= (p.Ile4859=)
1g.237819144A>CCA345426511RYR2c.*5634A>C (n.*5634A>C)
c.14524A>C (p.Ile4842Leu)
c.14563A>C (p.Ile4855Leu)
c.6713A>C
c.14542A>C (p.Ile4848Leu)
c.14491A>C (p.Ile4831Leu)
n.1053A>C
c.14596A>C (p.Ile4866Leu)
c.14593A>C (p.Ile4865Leu)
c.14572A>C (p.Ile4858Leu)
c.14566A>C (p.Ile4856Leu)
c.14560A>C (p.Ile4854Leu)
c.14536A>C (p.Ile4846Leu)
c.14359A>C (p.Ile4787Leu)
c.14503A>C (p.Ile4835Leu)
c.14575A>C (p.Ile4859Leu)
1g.237819144A>GCA345426512RYR2c.*5634A>G (n.*5634A>G)
c.14524A>G (p.Ile4842Val)
c.14563A>G (p.Ile4855Val)
c.6713A>G
c.14542A>G (p.Ile4848Val)
c.14491A>G (p.Ile4831Val)
n.1053A>G
c.14596A>G (p.Ile4866Val)
c.14593A>G (p.Ile4865Val)
c.14572A>G (p.Ile4858Val)
c.14566A>G (p.Ile4856Val)
c.14560A>G (p.Ile4854Val)
c.14536A>G (p.Ile4846Val)
c.14359A>G (p.Ile4787Val)
c.14503A>G (p.Ile4835Val)
c.14575A>G (p.Ile4859Val)
 ClinVar dbSNP
1g.237819144A>TCA345426513RYR2c.*5634A>T (n.*5634A>T)
c.14524A>T (p.Ile4842Phe)
c.14563A>T (p.Ile4855Phe)
c.6713A>T
c.14542A>T (p.Ile4848Phe)
c.14491A>T (p.Ile4831Phe)
n.1053A>T
c.14596A>T (p.Ile4866Phe)
c.14593A>T (p.Ile4865Phe)
c.14572A>T (p.Ile4858Phe)
c.14566A>T (p.Ile4856Phe)
c.14560A>T (p.Ile4854Phe)
c.14536A>T (p.Ile4846Phe)
c.14359A>T (p.Ile4787Phe)
c.14503A>T (p.Ile4835Phe)
c.14575A>T (p.Ile4859Phe)
1g.237819145T>ACA345426514RYR2c.*5635T>A (n.*5635T>A)
c.14525T>A (p.Ile4842Asn)
c.14564T>A (p.Ile4855Asn)
c.6714T>A
c.14543T>A (p.Ile4848Asn)
c.14492T>A (p.Ile4831Asn)
n.1054T>A
c.14597T>A (p.Ile4866Asn)
c.14594T>A (p.Ile4865Asn)
c.14573T>A (p.Ile4858Asn)
c.14567T>A (p.Ile4856Asn)
c.14561T>A (p.Ile4854Asn)
c.14537T>A (p.Ile4846Asn)
c.14360T>A (p.Ile4787Asn)
c.14504T>A (p.Ile4835Asn)
c.14576T>A (p.Ile4859Asn)
1g.237819145T>CCA068373RYR2c.*5635T>C (n.*5635T>C)
c.14525T>C (p.Ile4842Thr)
c.14564T>C (p.Ile4855Thr)
c.6714T>C
c.14543T>C (p.Ile4848Thr)
c.14492T>C (p.Ile4831Thr)
n.1054T>C
c.14597T>C (p.Ile4866Thr)
c.14594T>C (p.Ile4865Thr)
c.14573T>C (p.Ile4858Thr)
c.14567T>C (p.Ile4856Thr)
c.14561T>C (p.Ile4854Thr)
c.14537T>C (p.Ile4846Thr)
c.14360T>C (p.Ile4787Thr)
c.14504T>C (p.Ile4835Thr)
c.14576T>C (p.Ile4859Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.237819145T>GCA345426518RYR2c.*5635T>G (n.*5635T>G)
c.14525T>G (p.Ile4842Ser)
c.14564T>G (p.Ile4855Ser)
c.6714T>G
c.14543T>G (p.Ile4848Ser)
c.14492T>G (p.Ile4831Ser)
n.1054T>G
c.14597T>G (p.Ile4866Ser)
c.14594T>G (p.Ile4865Ser)
c.14573T>G (p.Ile4858Ser)
c.14567T>G (p.Ile4856Ser)
c.14561T>G (p.Ile4854Ser)
c.14537T>G (p.Ile4846Ser)
c.14360T>G (p.Ile4787Ser)
c.14504T>G (p.Ile4835Ser)
c.14576T>G (p.Ile4859Ser)
1g.237819145T=CA2487497591RYR2c.*5635T= (n.*5635T=)
c.14525T= (p.Ile4842=)
c.14564T= (p.Ile4855=)
c.6714T=
c.14543T= (p.Ile4848=)
c.14492T= (p.Ile4831=)
n.1054T=
c.14597T= (p.Ile4866=)
c.14594T= (p.Ile4865=)
c.14573T= (p.Ile4858=)
c.14567T= (p.Ile4856=)
c.14561T= (p.Ile4854=)
c.14537T= (p.Ile4846=)
c.14360T= (p.Ile4787=)
c.14504T= (p.Ile4835=)
c.14576T= (p.Ile4859=)
1g.237819146C>ACA424051820RYR2c.*5636C>A (n.*5636C>A)
c.14526C>A (p.Ile4842=)
c.14565C>A (p.Ile4855=)
c.6715C>A
c.14544C>A (p.Ile4848=)
c.14493C>A (p.Ile4831=)
n.1055C>A
c.14598C>A (p.Ile4866=)
c.14595C>A (p.Ile4865=)
c.14574C>A (p.Ile4858=)
c.14568C>A (p.Ile4856=)
c.14562C>A (p.Ile4854=)
c.14538C>A (p.Ile4846=)
c.14361C>A (p.Ile4787=)
c.14505C>A (p.Ile4835=)
c.14577C>A (p.Ile4859=)
1g.237819146C>GCA345426522RYR2c.*5636C>G (n.*5636C>G)
c.14526C>G (p.Ile4842Met)
c.14565C>G (p.Ile4855Met)
c.6715C>G
c.14544C>G (p.Ile4848Met)
c.14493C>G (p.Ile4831Met)
n.1055C>G
c.14598C>G (p.Ile4866Met)
c.14595C>G (p.Ile4865Met)
c.14574C>G (p.Ile4858Met)
c.14568C>G (p.Ile4856Met)
c.14562C>G (p.Ile4854Met)
c.14538C>G (p.Ile4846Met)
c.14361C>G (p.Ile4787Met)
c.14505C>G (p.Ile4835Met)
c.14577C>G (p.Ile4859Met)
1g.237819146C>TCA424051819RYR2c.*5636C>T (n.*5636C>T)
c.14526C>T (p.Ile4842=)
c.14565C>T (p.Ile4855=)
c.6715C>T
c.14544C>T (p.Ile4848=)
c.14493C>T (p.Ile4831=)
n.1055C>T
c.14598C>T (p.Ile4866=)
c.14595C>T (p.Ile4865=)
c.14574C>T (p.Ile4858=)
c.14568C>T (p.Ile4856=)
c.14562C>T (p.Ile4854=)
c.14538C>T (p.Ile4846=)
c.14361C>T (p.Ile4787=)
c.14505C>T (p.Ile4835=)
c.14577C>T (p.Ile4859=)
 gnomAD v4
1g.237819147A>CCA345426525RYR2c.*5637A>C (n.*5637A>C)
c.14527A>C (p.Thr4843Pro)
c.14566A>C (p.Thr4856Pro)
c.6716A>C
c.14545A>C (p.Thr4849Pro)
c.14494A>C (p.Thr4832Pro)
n.1056A>C
c.14599A>C (p.Thr4867Pro)
c.14596A>C (p.Thr4866Pro)
c.14575A>C (p.Thr4859Pro)
c.14569A>C (p.Thr4857Pro)
c.14563A>C (p.Thr4855Pro)
c.14539A>C (p.Thr4847Pro)
c.14362A>C (p.Thr4788Pro)
c.14506A>C (p.Thr4836Pro)
c.14578A>C (p.Thr4860Pro)
1g.237819147A>GCA345426526RYR2c.*5637A>G (n.*5637A>G)
c.14527A>G (p.Thr4843Ala)
c.14566A>G (p.Thr4856Ala)
c.6716A>G
c.14545A>G (p.Thr4849Ala)
c.14494A>G (p.Thr4832Ala)
n.1056A>G
c.14599A>G (p.Thr4867Ala)
c.14596A>G (p.Thr4866Ala)
c.14575A>G (p.Thr4859Ala)
c.14569A>G (p.Thr4857Ala)
c.14563A>G (p.Thr4855Ala)
c.14539A>G (p.Thr4847Ala)
c.14362A>G (p.Thr4788Ala)
c.14506A>G (p.Thr4836Ala)
c.14578A>G (p.Thr4860Ala)
1g.237819147A>TCA345426527RYR2c.*5637A>T (n.*5637A>T)
c.14527A>T (p.Thr4843Ser)
c.14566A>T (p.Thr4856Ser)
c.6716A>T
c.14545A>T (p.Thr4849Ser)
c.14494A>T (p.Thr4832Ser)
n.1056A>T
c.14599A>T (p.Thr4867Ser)
c.14596A>T (p.Thr4866Ser)
c.14575A>T (p.Thr4859Ser)
c.14569A>T (p.Thr4857Ser)
c.14563A>T (p.Thr4855Ser)
c.14539A>T (p.Thr4847Ser)
c.14362A>T (p.Thr4788Ser)
c.14506A>T (p.Thr4836Ser)
c.14578A>T (p.Thr4860Ser)
1g.237819148C>ACA345426536RYR2c.*5638C>A (n.*5638C>A)
c.14528C>A (p.Thr4843Asn)
c.14567C>A (p.Thr4856Asn)
c.6717C>A
c.14546C>A (p.Thr4849Asn)
c.14495C>A (p.Thr4832Asn)
n.1057C>A
c.14600C>A (p.Thr4867Asn)
c.14597C>A (p.Thr4866Asn)
c.14576C>A (p.Thr4859Asn)
c.14570C>A (p.Thr4857Asn)
c.14564C>A (p.Thr4855Asn)
c.14540C>A (p.Thr4847Asn)
c.14363C>A (p.Thr4788Asn)
c.14507C>A (p.Thr4836Asn)
c.14579C>A (p.Thr4860Asn)
1g.237819148C>GCA345426534RYR2c.*5638C>G (n.*5638C>G)
c.14528C>G (p.Thr4843Ser)
c.14567C>G (p.Thr4856Ser)
c.6717C>G
c.14546C>G (p.Thr4849Ser)
c.14495C>G (p.Thr4832Ser)
n.1057C>G
c.14600C>G (p.Thr4867Ser)
c.14597C>G (p.Thr4866Ser)
c.14576C>G (p.Thr4859Ser)
c.14570C>G (p.Thr4857Ser)
c.14564C>G (p.Thr4855Ser)
c.14540C>G (p.Thr4847Ser)
c.14363C>G (p.Thr4788Ser)
c.14507C>G (p.Thr4836Ser)
c.14579C>G (p.Thr4860Ser)
1g.237819148C>TCA345426531RYR2c.*5638C>T (n.*5638C>T)
c.14528C>T (p.Thr4843Ile)
c.14567C>T (p.Thr4856Ile)
c.6717C>T
c.14546C>T (p.Thr4849Ile)
c.14495C>T (p.Thr4832Ile)
n.1057C>T
c.14600C>T (p.Thr4867Ile)
c.14597C>T (p.Thr4866Ile)
c.14576C>T (p.Thr4859Ile)
c.14570C>T (p.Thr4857Ile)
c.14564C>T (p.Thr4855Ile)
c.14540C>T (p.Thr4847Ile)
c.14363C>T (p.Thr4788Ile)
c.14507C>T (p.Thr4836Ile)
c.14579C>T (p.Thr4860Ile)
 ClinVar dbSNP
1g.237819149T>ACA424051821RYR2c.*5639T>A (n.*5639T>A)
c.14529T>A (p.Thr4843=)
c.14568T>A (p.Thr4856=)
c.6718T>A
c.14547T>A (p.Thr4849=)
c.14496T>A (p.Thr4832=)
n.1058T>A
c.14601T>A (p.Thr4867=)
c.14598T>A (p.Thr4866=)
c.14577T>A (p.Thr4859=)
c.14571T>A (p.Thr4857=)
c.14565T>A (p.Thr4855=)
c.14541T>A (p.Thr4847=)
c.14364T>A (p.Thr4788=)
c.14508T>A (p.Thr4836=)
c.14580T>A (p.Thr4860=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237819149T>CCA424051822RYR2c.*5639T>C (n.*5639T>C)
c.14529T>C (p.Thr4843=)
c.14568T>C (p.Thr4856=)
c.6718T>C
c.14547T>C (p.Thr4849=)
c.14496T>C (p.Thr4832=)
n.1058T>C
c.14601T>C (p.Thr4867=)
c.14598T>C (p.Thr4866=)
c.14577T>C (p.Thr4859=)
c.14571T>C (p.Thr4857=)
c.14565T>C (p.Thr4855=)
c.14541T>C (p.Thr4847=)
c.14364T>C (p.Thr4788=)
c.14508T>C (p.Thr4836=)
c.14580T>C (p.Thr4860=)
1g.237819149T>GCA424051823RYR2c.*5639T>G (n.*5639T>G)
c.14529T>G (p.Thr4843=)
c.14568T>G (p.Thr4856=)
c.6718T>G
c.14547T>G (p.Thr4849=)
c.14496T>G (p.Thr4832=)
n.1058T>G
c.14601T>G (p.Thr4867=)
c.14598T>G (p.Thr4866=)
c.14577T>G (p.Thr4859=)
c.14571T>G (p.Thr4857=)
c.14565T>G (p.Thr4855=)
c.14541T>G (p.Thr4847=)
c.14364T>G (p.Thr4788=)
c.14508T>G (p.Thr4836=)
c.14580T>G (p.Thr4860=)
1g.237819149T=CA2487497592RYR2c.*5639T= (n.*5639T=)
c.14529T= (p.Thr4843=)
c.14568T= (p.Thr4856=)
c.6718T=
c.14547T= (p.Thr4849=)
c.14496T= (p.Thr4832=)
n.1058T=
c.14601T= (p.Thr4867=)
c.14598T= (p.Thr4866=)
c.14577T= (p.Thr4859=)
c.14571T= (p.Thr4857=)
c.14565T= (p.Thr4855=)
c.14541T= (p.Thr4847=)
c.14364T= (p.Thr4788=)
c.14508T= (p.Thr4836=)
c.14580T= (p.Thr4860=)
1g.237819150T>ACA345426539RYR2c.*5640T>A (n.*5640T>A)
c.14530T>A (p.Phe4844Ile)
c.14569T>A (p.Phe4857Ile)
c.6719T>A
c.14548T>A (p.Phe4850Ile)
c.14497T>A (p.Phe4833Ile)
n.1059T>A
c.14602T>A (p.Phe4868Ile)
c.14599T>A (p.Phe4867Ile)
c.14578T>A (p.Phe4860Ile)
c.14572T>A (p.Phe4858Ile)
c.14566T>A (p.Phe4856Ile)
c.14542T>A (p.Phe4848Ile)
c.14365T>A (p.Phe4789Ile)
c.14509T>A (p.Phe4837Ile)
c.14581T>A (p.Phe4861Ile)
1g.237819150T>CCA345426561RYR2c.*5640T>C (n.*5640T>C)
c.14530T>C (p.Phe4844Leu)
c.14569T>C (p.Phe4857Leu)
c.6719T>C
c.14548T>C (p.Phe4850Leu)
c.14497T>C (p.Phe4833Leu)
n.1059T>C
c.14602T>C (p.Phe4868Leu)
c.14599T>C (p.Phe4867Leu)
c.14578T>C (p.Phe4860Leu)
c.14572T>C (p.Phe4858Leu)
c.14566T>C (p.Phe4856Leu)
c.14542T>C (p.Phe4848Leu)
c.14365T>C (p.Phe4789Leu)
c.14509T>C (p.Phe4837Leu)
c.14581T>C (p.Phe4861Leu)
1g.237819150T>GCA345426543RYR2c.*5640T>G (n.*5640T>G)
c.14530T>G (p.Phe4844Val)
c.14569T>G (p.Phe4857Val)
c.6719T>G
c.14548T>G (p.Phe4850Val)
c.14497T>G (p.Phe4833Val)
n.1059T>G
c.14602T>G (p.Phe4868Val)
c.14599T>G (p.Phe4867Val)
c.14578T>G (p.Phe4860Val)
c.14572T>G (p.Phe4858Val)
c.14566T>G (p.Phe4856Val)
c.14542T>G (p.Phe4848Val)
c.14365T>G (p.Phe4789Val)
c.14509T>G (p.Phe4837Val)
c.14581T>G (p.Phe4861Val)
1g.237819158_237819160delCA2697547706RYR2c.*5648_*5650del (n.*5648_*5650del)
c.14538_14540del (p.Phe4847del)
c.14577_14579del (p.Phe4860del)
c.6727_6729del
c.14556_14558del (p.Phe4853del)
c.14505_14507del (p.Phe4836del)
n.1067_1069del
c.14610_14612del (p.Phe4871del)
c.14607_14609del (p.Phe4870del)
c.14586_14588del (p.Phe4863del)
c.14580_14582del (p.Phe4861del)
c.14574_14576del (p.Phe4859del)
c.14550_14552del (p.Phe4851del)
c.14373_14375del (p.Phe4792del)
c.14517_14519del (p.Phe4840del)
c.14589_14591del (p.Phe4864del)
 ClinVar
1g.237819151T>ACA345426564RYR2c.*5641T>A (n.*5641T>A)
c.14531T>A (p.Phe4844Tyr)
c.14570T>A (p.Phe4857Tyr)
c.6720T>A
c.14549T>A (p.Phe4850Tyr)
c.14498T>A (p.Phe4833Tyr)
n.1060T>A
c.14603T>A (p.Phe4868Tyr)
c.14600T>A (p.Phe4867Tyr)
c.14579T>A (p.Phe4860Tyr)
c.14573T>A (p.Phe4858Tyr)
c.14567T>A (p.Phe4856Tyr)
c.14543T>A (p.Phe4848Tyr)
c.14366T>A (p.Phe4789Tyr)
c.14510T>A (p.Phe4837Tyr)
c.14582T>A (p.Phe4861Tyr)
1g.237819151T>CCA345426567RYR2c.*5641T>C (n.*5641T>C)
c.14531T>C (p.Phe4844Ser)
c.14570T>C (p.Phe4857Ser)
c.6720T>C
c.14549T>C (p.Phe4850Ser)
c.14498T>C (p.Phe4833Ser)
n.1060T>C
c.14603T>C (p.Phe4868Ser)
c.14600T>C (p.Phe4867Ser)
c.14579T>C (p.Phe4860Ser)
c.14573T>C (p.Phe4858Ser)
c.14567T>C (p.Phe4856Ser)
c.14543T>C (p.Phe4848Ser)
c.14366T>C (p.Phe4789Ser)
c.14510T>C (p.Phe4837Ser)
c.14582T>C (p.Phe4861Ser)
1g.237819151T>GCA345426569RYR2c.*5641T>G (n.*5641T>G)
c.14531T>G (p.Phe4844Cys)
c.14570T>G (p.Phe4857Cys)
c.6720T>G
c.14549T>G (p.Phe4850Cys)
c.14498T>G (p.Phe4833Cys)
n.1060T>G
c.14603T>G (p.Phe4868Cys)
c.14600T>G (p.Phe4867Cys)
c.14579T>G (p.Phe4860Cys)
c.14573T>G (p.Phe4858Cys)
c.14567T>G (p.Phe4856Cys)
c.14543T>G (p.Phe4848Cys)
c.14366T>G (p.Phe4789Cys)
c.14510T>G (p.Phe4837Cys)
c.14582T>G (p.Phe4861Cys)
1g.237819152C>ACA068409RYR2c.*5642C>A (n.*5642C>A)
c.14532C>A (p.Phe4844Leu)
c.14571C>A (p.Phe4857Leu)
c.6721C>A
c.14550C>A (p.Phe4850Leu)
c.14499C>A (p.Phe4833Leu)
n.1061C>A
c.14604C>A (p.Phe4868Leu)
c.14601C>A (p.Phe4867Leu)
c.14580C>A (p.Phe4860Leu)
c.14574C>A (p.Phe4858Leu)
c.14568C>A (p.Phe4856Leu)
c.14544C>A (p.Phe4848Leu)
c.14367C>A (p.Phe4789Leu)
c.14511C>A (p.Phe4837Leu)
c.14583C>A (p.Phe4861Leu)
1g.237819152C>GCA345426576RYR2c.*5642C>G (n.*5642C>G)
c.14532C>G (p.Phe4844Leu)
c.14571C>G (p.Phe4857Leu)
c.6721C>G
c.14550C>G (p.Phe4850Leu)
c.14499C>G (p.Phe4833Leu)
n.1061C>G
c.14604C>G (p.Phe4868Leu)
c.14601C>G (p.Phe4867Leu)
c.14580C>G (p.Phe4860Leu)
c.14574C>G (p.Phe4858Leu)
c.14568C>G (p.Phe4856Leu)
c.14544C>G (p.Phe4848Leu)
c.14367C>G (p.Phe4789Leu)
c.14511C>G (p.Phe4837Leu)
c.14583C>G (p.Phe4861Leu)
1g.237819152C>TCA068415RYR2c.*5642C>T (n.*5642C>T)
c.14532C>T (p.Phe4844=)
c.14571C>T (p.Phe4857=)
c.6721C>T
c.14550C>T (p.Phe4850=)
c.14499C>T (p.Phe4833=)
n.1061C>T
c.14604C>T (p.Phe4868=)
c.14601C>T (p.Phe4867=)
c.14580C>T (p.Phe4860=)
c.14574C>T (p.Phe4858=)
c.14568C>T (p.Phe4856=)
c.14544C>T (p.Phe4848=)
c.14367C>T (p.Phe4789=)
c.14511C>T (p.Phe4837=)
c.14583C>T (p.Phe4861=)
1g.237819153T>ACA345426580RYR2c.*5643T>A (n.*5643T>A)
c.14533T>A (p.Phe4845Ile)
c.14572T>A (p.Phe4858Ile)
c.6722T>A
c.14551T>A (p.Phe4851Ile)
c.14500T>A (p.Phe4834Ile)
n.1062T>A
c.14605T>A (p.Phe4869Ile)
c.14602T>A (p.Phe4868Ile)
c.14581T>A (p.Phe4861Ile)
c.14575T>A (p.Phe4859Ile)
c.14569T>A (p.Phe4857Ile)
c.14545T>A (p.Phe4849Ile)
c.14368T>A (p.Phe4790Ile)
c.14512T>A (p.Phe4838Ile)
c.14584T>A (p.Phe4862Ile)
1g.237819153T>CCA345426582RYR2c.*5643T>C (n.*5643T>C)
c.14533T>C (p.Phe4845Leu)
c.14572T>C (p.Phe4858Leu)
c.6722T>C
c.14551T>C (p.Phe4851Leu)
c.14500T>C (p.Phe4834Leu)
n.1062T>C
c.14605T>C (p.Phe4869Leu)
c.14602T>C (p.Phe4868Leu)
c.14581T>C (p.Phe4861Leu)
c.14575T>C (p.Phe4859Leu)
c.14569T>C (p.Phe4857Leu)
c.14545T>C (p.Phe4849Leu)
c.14368T>C (p.Phe4790Leu)
c.14512T>C (p.Phe4838Leu)
c.14584T>C (p.Phe4862Leu)
1g.237819153T>GCA345426584RYR2c.*5643T>G (n.*5643T>G)
c.14533T>G (p.Phe4845Val)
c.14572T>G (p.Phe4858Val)
c.6722T>G
c.14551T>G (p.Phe4851Val)
c.14500T>G (p.Phe4834Val)
n.1062T>G
c.14605T>G (p.Phe4869Val)
c.14602T>G (p.Phe4868Val)
c.14581T>G (p.Phe4861Val)
c.14575T>G (p.Phe4859Val)
c.14569T>G (p.Phe4857Val)
c.14545T>G (p.Phe4849Val)
c.14368T>G (p.Phe4790Val)
c.14512T>G (p.Phe4838Val)
c.14584T>G (p.Phe4862Val)
1g.237819154T>ACA345426586RYR2c.*5644T>A (n.*5644T>A)
c.14534T>A (p.Phe4845Tyr)
c.14573T>A (p.Phe4858Tyr)
c.6723T>A
c.14552T>A (p.Phe4851Tyr)
c.14501T>A (p.Phe4834Tyr)
n.1063T>A
c.14606T>A (p.Phe4869Tyr)
c.14603T>A (p.Phe4868Tyr)
c.14582T>A (p.Phe4861Tyr)
c.14576T>A (p.Phe4859Tyr)
c.14570T>A (p.Phe4857Tyr)
c.14546T>A (p.Phe4849Tyr)
c.14369T>A (p.Phe4790Tyr)
c.14513T>A (p.Phe4838Tyr)
c.14585T>A (p.Phe4862Tyr)
1g.237819154T>CCA345426588RYR2c.*5644T>C (n.*5644T>C)
c.14534T>C (p.Phe4845Ser)
c.14573T>C (p.Phe4858Ser)
c.6723T>C
c.14552T>C (p.Phe4851Ser)
c.14501T>C (p.Phe4834Ser)
n.1063T>C
c.14606T>C (p.Phe4869Ser)
c.14603T>C (p.Phe4868Ser)
c.14582T>C (p.Phe4861Ser)
c.14576T>C (p.Phe4859Ser)
c.14570T>C (p.Phe4857Ser)
c.14546T>C (p.Phe4849Ser)
c.14369T>C (p.Phe4790Ser)
c.14513T>C (p.Phe4838Ser)
c.14585T>C (p.Phe4862Ser)
1g.237819154T>GCA345426592RYR2c.*5644T>G (n.*5644T>G)
c.14534T>G (p.Phe4845Cys)
c.14573T>G (p.Phe4858Cys)
c.6723T>G
c.14552T>G (p.Phe4851Cys)
c.14501T>G (p.Phe4834Cys)
n.1063T>G
c.14606T>G (p.Phe4869Cys)
c.14603T>G (p.Phe4868Cys)
c.14582T>G (p.Phe4861Cys)
c.14576T>G (p.Phe4859Cys)
c.14570T>G (p.Phe4857Cys)
c.14546T>G (p.Phe4849Cys)
c.14369T>G (p.Phe4790Cys)
c.14513T>G (p.Phe4838Cys)
c.14585T>G (p.Phe4862Cys)
 dbSNP
1g.237819154T=CA2487497593RYR2c.*5644T= (n.*5644T=)
c.14534T= (p.Phe4845=)
c.14573T= (p.Phe4858=)
c.6723T=
c.14552T= (p.Phe4851=)
c.14501T= (p.Phe4834=)
n.1063T=
c.14606T= (p.Phe4869=)
c.14603T= (p.Phe4868=)
c.14582T= (p.Phe4861=)
c.14576T= (p.Phe4859=)
c.14570T= (p.Phe4857=)
c.14546T= (p.Phe4849=)
c.14369T= (p.Phe4790=)
c.14513T= (p.Phe4838=)
c.14585T= (p.Phe4862=)
1g.237819155C>ACA345426597RYR2c.*5645C>A (n.*5645C>A)
c.14535C>A (p.Phe4845Leu)
c.14574C>A (p.Phe4858Leu)
c.6724C>A
c.14553C>A (p.Phe4851Leu)
c.14502C>A (p.Phe4834Leu)
n.1064C>A
c.14607C>A (p.Phe4869Leu)
c.14604C>A (p.Phe4868Leu)
c.14583C>A (p.Phe4861Leu)
c.14577C>A (p.Phe4859Leu)
c.14571C>A (p.Phe4857Leu)
c.14547C>A (p.Phe4849Leu)
c.14370C>A (p.Phe4790Leu)
c.14514C>A (p.Phe4838Leu)
c.14586C>A (p.Phe4862Leu)
 ClinVar dbSNP
1g.237819155C=CA2487497594RYR2c.*5645C= (n.*5645C=)
c.14535C= (p.Phe4845=)
c.14574C= (p.Phe4858=)
c.6724C=
c.14553C= (p.Phe4851=)
c.14502C= (p.Phe4834=)
n.1064C=
c.14607C= (p.Phe4869=)
c.14604C= (p.Phe4868=)
c.14583C= (p.Phe4861=)
c.14577C= (p.Phe4859=)
c.14571C= (p.Phe4857=)
c.14547C= (p.Phe4849=)
c.14370C= (p.Phe4790=)
c.14514C= (p.Phe4838=)
c.14586C= (p.Phe4862=)
1g.237819155C>GCA345426598RYR2c.*5645C>G (n.*5645C>G)
c.14535C>G (p.Phe4845Leu)
c.14574C>G (p.Phe4858Leu)
c.6724C>G
c.14553C>G (p.Phe4851Leu)
c.14502C>G (p.Phe4834Leu)
n.1064C>G
c.14607C>G (p.Phe4869Leu)
c.14604C>G (p.Phe4868Leu)
c.14583C>G (p.Phe4861Leu)
c.14577C>G (p.Phe4859Leu)
c.14571C>G (p.Phe4857Leu)
c.14547C>G (p.Phe4849Leu)
c.14370C>G (p.Phe4790Leu)
c.14514C>G (p.Phe4838Leu)
c.14586C>G (p.Phe4862Leu)
1g.237819155C>TCA424051824RYR2c.*5645C>T (n.*5645C>T)
c.14535C>T (p.Phe4845=)
c.14574C>T (p.Phe4858=)
c.6724C>T
c.14553C>T (p.Phe4851=)
c.14502C>T (p.Phe4834=)
n.1064C>T
c.14607C>T (p.Phe4869=)
c.14604C>T (p.Phe4868=)
c.14583C>T (p.Phe4861=)
c.14577C>T (p.Phe4859=)
c.14571C>T (p.Phe4857=)
c.14547C>T (p.Phe4849=)
c.14370C>T (p.Phe4790=)
c.14514C>T (p.Phe4838=)
c.14586C>T (p.Phe4862=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237819156T>ACA345426600RYR2c.*5646T>A (n.*5646T>A)
c.14536T>A (p.Phe4846Ile)
c.14575T>A (p.Phe4859Ile)
c.6725T>A
c.14554T>A (p.Phe4852Ile)
c.14503T>A (p.Phe4835Ile)
n.1065T>A
c.14608T>A (p.Phe4870Ile)
c.14605T>A (p.Phe4869Ile)
c.14584T>A (p.Phe4862Ile)
c.14578T>A (p.Phe4860Ile)
c.14572T>A (p.Phe4858Ile)
c.14548T>A (p.Phe4850Ile)
c.14371T>A (p.Phe4791Ile)
c.14515T>A (p.Phe4839Ile)
c.14587T>A (p.Phe4863Ile)
1g.237819156T>CCA345426603RYR2c.*5646T>C (n.*5646T>C)
c.14536T>C (p.Phe4846Leu)
c.14575T>C (p.Phe4859Leu)
c.6725T>C
c.14554T>C (p.Phe4852Leu)
c.14503T>C (p.Phe4835Leu)
n.1065T>C
c.14608T>C (p.Phe4870Leu)
c.14605T>C (p.Phe4869Leu)
c.14584T>C (p.Phe4862Leu)
c.14578T>C (p.Phe4860Leu)
c.14572T>C (p.Phe4858Leu)
c.14548T>C (p.Phe4850Leu)
c.14371T>C (p.Phe4791Leu)
c.14515T>C (p.Phe4839Leu)
c.14587T>C (p.Phe4863Leu)
1g.237819156T>GCA345426601RYR2c.*5646T>G (n.*5646T>G)
c.14536T>G (p.Phe4846Val)
c.14575T>G (p.Phe4859Val)
c.6725T>G
c.14554T>G (p.Phe4852Val)
c.14503T>G (p.Phe4835Val)
n.1065T>G
c.14608T>G (p.Phe4870Val)
c.14605T>G (p.Phe4869Val)
c.14584T>G (p.Phe4862Val)
c.14578T>G (p.Phe4860Val)
c.14572T>G (p.Phe4858Val)
c.14548T>G (p.Phe4850Val)
c.14371T>G (p.Phe4791Val)
c.14515T>G (p.Phe4839Val)
c.14587T>G (p.Phe4863Val)
1g.237819158_237819161delCA2573132884RYR2c.*5648_*5651del (n.*5648_*5651del)
c.14538_14541del (p.Phe4846LeufsTer9)
c.14577_14580del (p.Phe4859LeufsTer9)
c.6727_6730del
c.14556_14559del (p.Phe4852LeufsTer9)
c.14505_14508del (p.Phe4835LeufsTer9)
n.1067_1070del
c.14610_14613del (p.Phe4870LeufsTer9)
c.14607_14610del (p.Phe4869LeufsTer9)
c.14586_14589del (p.Phe4862LeufsTer9)
c.14580_14583del (p.Phe4860LeufsTer9)
c.14574_14577del (p.Phe4858LeufsTer9)
c.14550_14553del (p.Phe4850LeufsTer9)
c.14373_14376del (p.Phe4791LeufsTer9)
c.14517_14520del (p.Phe4839LeufsTer9)
c.14589_14592del (p.Phe4863LeufsTer9)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237819157T>ACA345426608RYR2c.*5647T>A (n.*5647T>A)
c.14537T>A (p.Phe4846Tyr)
c.14576T>A (p.Phe4859Tyr)
c.6726T>A
c.14555T>A (p.Phe4852Tyr)
c.14504T>A (p.Phe4835Tyr)
n.1066T>A
c.14609T>A (p.Phe4870Tyr)
c.14606T>A (p.Phe4869Tyr)
c.14585T>A (p.Phe4862Tyr)
c.14579T>A (p.Phe4860Tyr)
c.14573T>A (p.Phe4858Tyr)
c.14549T>A (p.Phe4850Tyr)
c.14372T>A (p.Phe4791Tyr)
c.14516T>A (p.Phe4839Tyr)
c.14588T>A (p.Phe4863Tyr)
1g.237819157T>CCA345426610RYR2c.*5647T>C (n.*5647T>C)
c.14537T>C (p.Phe4846Ser)
c.14576T>C (p.Phe4859Ser)
c.6726T>C
c.14555T>C (p.Phe4852Ser)
c.14504T>C (p.Phe4835Ser)
n.1066T>C
c.14609T>C (p.Phe4870Ser)
c.14606T>C (p.Phe4869Ser)
c.14585T>C (p.Phe4862Ser)
c.14579T>C (p.Phe4860Ser)
c.14573T>C (p.Phe4858Ser)
c.14549T>C (p.Phe4850Ser)
c.14372T>C (p.Phe4791Ser)
c.14516T>C (p.Phe4839Ser)
c.14588T>C (p.Phe4863Ser)
1g.237819157T>GCA345426613RYR2c.*5647T>G (n.*5647T>G)
c.14537T>G (p.Phe4846Cys)
c.14576T>G (p.Phe4859Cys)
c.6726T>G
c.14555T>G (p.Phe4852Cys)
c.14504T>G (p.Phe4835Cys)
n.1066T>G
c.14609T>G (p.Phe4870Cys)
c.14606T>G (p.Phe4869Cys)
c.14585T>G (p.Phe4862Cys)
c.14579T>G (p.Phe4860Cys)
c.14573T>G (p.Phe4858Cys)
c.14549T>G (p.Phe4850Cys)
c.14372T>G (p.Phe4791Cys)
c.14516T>G (p.Phe4839Cys)
c.14588T>G (p.Phe4863Cys)
1g.237819158delCA2651217203RYR2c.*5648del (n.*5648del)
c.14538del (p.Phe4847LeufsTer9)
c.14577del (p.Phe4860LeufsTer9)
c.6727del
c.14556del (p.Phe4853LeufsTer9)
c.14505del (p.Phe4836LeufsTer9)
n.1067del
c.14610del (p.Phe4871LeufsTer9)
c.14607del (p.Phe4870LeufsTer9)
c.14586del (p.Phe4863LeufsTer9)
c.14580del (p.Phe4861LeufsTer9)
c.14574del (p.Phe4859LeufsTer9)
c.14550del (p.Phe4851LeufsTer9)
c.14373del (p.Phe4792LeufsTer9)
c.14517del (p.Phe4840LeufsTer9)
c.14589del (p.Phe4864LeufsTer9)
 gnomAD v4
1g.237819158C>ACA345426618RYR2c.*5648C>A (n.*5648C>A)
c.14538C>A (p.Phe4846Leu)
c.14577C>A (p.Phe4859Leu)
c.6727C>A
c.14556C>A (p.Phe4852Leu)
c.14505C>A (p.Phe4835Leu)
n.1067C>A
c.14610C>A (p.Phe4870Leu)
c.14607C>A (p.Phe4869Leu)
c.14586C>A (p.Phe4862Leu)
c.14580C>A (p.Phe4860Leu)
c.14574C>A (p.Phe4858Leu)
c.14550C>A (p.Phe4850Leu)
c.14373C>A (p.Phe4791Leu)
c.14517C>A (p.Phe4839Leu)
c.14589C>A (p.Phe4863Leu)
1g.237819158C>GCA345426619RYR2c.*5648C>G (n.*5648C>G)
c.14538C>G (p.Phe4846Leu)
c.14577C>G (p.Phe4859Leu)
c.6727C>G
c.14556C>G (p.Phe4852Leu)
c.14505C>G (p.Phe4835Leu)
n.1067C>G
c.14610C>G (p.Phe4870Leu)
c.14607C>G (p.Phe4869Leu)
c.14586C>G (p.Phe4862Leu)
c.14580C>G (p.Phe4860Leu)
c.14574C>G (p.Phe4858Leu)
c.14550C>G (p.Phe4850Leu)
c.14373C>G (p.Phe4791Leu)
c.14517C>G (p.Phe4839Leu)
c.14589C>G (p.Phe4863Leu)
1g.237819158C>TCA424051825RYR2c.*5648C>T (n.*5648C>T)
c.14538C>T (p.Phe4846=)
c.14577C>T (p.Phe4859=)
c.6727C>T
c.14556C>T (p.Phe4852=)
c.14505C>T (p.Phe4835=)
n.1067C>T
c.14610C>T (p.Phe4870=)
c.14607C>T (p.Phe4869=)
c.14586C>T (p.Phe4862=)
c.14580C>T (p.Phe4860=)
c.14574C>T (p.Phe4858=)
c.14550C>T (p.Phe4850=)
c.14373C>T (p.Phe4791=)
c.14517C>T (p.Phe4839=)
c.14589C>T (p.Phe4863=)
 COSMIC
1g.237819158_237819161delinsCTTTCA2487497595RYR2c.*5648_*5651delinsCTTT (n.*5648_*5651delinsCTTT)
c.14538_14541delinsCTTT (p.Phe4846=)
c.14577_14580delinsCTTT (p.Phe4859=)
c.6727_6730delinsCTTT
c.14556_14559delinsCTTT (p.Phe4852=)
c.14505_14508delinsCTTT (p.Phe4835=)
n.1067_1070delinsCTTT
c.14610_14613delinsCTTT (p.Phe4870=)
c.14607_14610delinsCTTT (p.Phe4869=)
c.14586_14589delinsCTTT (p.Phe4862=)
c.14580_14583delinsCTTT (p.Phe4860=)
c.14574_14577delinsCTTT (p.Phe4858=)
c.14550_14553delinsCTTT (p.Phe4850=)
c.14373_14376delinsCTTT (p.Phe4791=)
c.14517_14520delinsCTTT (p.Phe4839=)
c.14589_14592delinsCTTT (p.Phe4863=)
1g.237819159T>ACA345426620RYR2c.*5649T>A (n.*5649T>A)
c.14539T>A (p.Phe4847Ile)
c.14578T>A (p.Phe4860Ile)
c.6728T>A
c.14557T>A (p.Phe4853Ile)
c.14506T>A (p.Phe4836Ile)
n.1068T>A
c.14611T>A (p.Phe4871Ile)
c.14608T>A (p.Phe4870Ile)
c.14587T>A (p.Phe4863Ile)
c.14581T>A (p.Phe4861Ile)
c.14575T>A (p.Phe4859Ile)
c.14551T>A (p.Phe4851Ile)
c.14374T>A (p.Phe4792Ile)
c.14518T>A (p.Phe4840Ile)
c.14590T>A (p.Phe4864Ile)
 COSMIC COSMIC
1g.237819159T>CCA345426621RYR2c.*5649T>C (n.*5649T>C)
c.14539T>C (p.Phe4847Leu)
c.14578T>C (p.Phe4860Leu)
c.6728T>C
c.14557T>C (p.Phe4853Leu)
c.14506T>C (p.Phe4836Leu)
n.1068T>C
c.14611T>C (p.Phe4871Leu)
c.14608T>C (p.Phe4870Leu)
c.14587T>C (p.Phe4863Leu)
c.14581T>C (p.Phe4861Leu)
c.14575T>C (p.Phe4859Leu)
c.14551T>C (p.Phe4851Leu)
c.14374T>C (p.Phe4792Leu)
c.14518T>C (p.Phe4840Leu)
c.14590T>C (p.Phe4864Leu)
1g.237819159T>GCA345426622RYR2c.*5649T>G (n.*5649T>G)
c.14539T>G (p.Phe4847Val)
c.14578T>G (p.Phe4860Val)
c.6728T>G
c.14557T>G (p.Phe4853Val)
c.14506T>G (p.Phe4836Val)
n.1068T>G
c.14611T>G (p.Phe4871Val)
c.14608T>G (p.Phe4870Val)
c.14587T>G (p.Phe4863Val)
c.14581T>G (p.Phe4861Val)
c.14575T>G (p.Phe4859Val)
c.14551T>G (p.Phe4851Val)
c.14374T>G (p.Phe4792Val)
c.14518T>G (p.Phe4840Val)
c.14590T>G (p.Phe4864Val)
1g.237819159_237819161delCA645293934RYR2c.*5649_*5651del (n.*5649_*5651del)
c.14539_14541del (p.Phe4847del)
c.14578_14580del (p.Phe4860del)
c.6728_6730del
c.14557_14559del (p.Phe4853del)
c.14506_14508del (p.Phe4836del)
n.1068_1070del
c.14611_14613del (p.Phe4871del)
c.14608_14610del (p.Phe4870del)
c.14587_14589del (p.Phe4863del)
c.14581_14583del (p.Phe4861del)
c.14575_14577del (p.Phe4859del)
c.14551_14553del (p.Phe4851del)
c.14374_14376del (p.Phe4792del)
c.14518_14520del (p.Phe4840del)
c.14590_14592del (p.Phe4864del)
 ClinVar dbSNP
1g.237819160T>ACA345426623RYR2c.*5650T>A (n.*5650T>A)
c.14540T>A (p.Phe4847Tyr)
c.14579T>A (p.Phe4860Tyr)
c.6729T>A
c.14558T>A (p.Phe4853Tyr)
c.14507T>A (p.Phe4836Tyr)
n.1069T>A
c.14612T>A (p.Phe4871Tyr)
c.14609T>A (p.Phe4870Tyr)
c.14588T>A (p.Phe4863Tyr)
c.14582T>A (p.Phe4861Tyr)
c.14576T>A (p.Phe4859Tyr)
c.14552T>A (p.Phe4851Tyr)
c.14375T>A (p.Phe4792Tyr)
c.14519T>A (p.Phe4840Tyr)
c.14591T>A (p.Phe4864Tyr)
1g.237819160T>CCA345426624RYR2c.*5650T>C (n.*5650T>C)
c.14540T>C (p.Phe4847Ser)
c.14579T>C (p.Phe4860Ser)
c.6729T>C
c.14558T>C (p.Phe4853Ser)
c.14507T>C (p.Phe4836Ser)
n.1069T>C
c.14612T>C (p.Phe4871Ser)
c.14609T>C (p.Phe4870Ser)
c.14588T>C (p.Phe4863Ser)
c.14582T>C (p.Phe4861Ser)
c.14576T>C (p.Phe4859Ser)
c.14552T>C (p.Phe4851Ser)
c.14375T>C (p.Phe4792Ser)
c.14519T>C (p.Phe4840Ser)
c.14591T>C (p.Phe4864Ser)
1g.237819160T>GCA345426627RYR2c.*5650T>G (n.*5650T>G)
c.14540T>G (p.Phe4847Cys)
c.14579T>G (p.Phe4860Cys)
c.6729T>G
c.14558T>G (p.Phe4853Cys)
c.14507T>G (p.Phe4836Cys)
n.1069T>G
c.14612T>G (p.Phe4871Cys)
c.14609T>G (p.Phe4870Cys)
c.14588T>G (p.Phe4863Cys)
c.14582T>G (p.Phe4861Cys)
c.14576T>G (p.Phe4859Cys)
c.14552T>G (p.Phe4851Cys)
c.14375T>G (p.Phe4792Cys)
c.14519T>G (p.Phe4840Cys)
c.14591T>G (p.Phe4864Cys)
1g.237819161T>ACA345426633RYR2c.*5651T>A (n.*5651T>A)
c.14541T>A (p.Phe4847Leu)
c.14580T>A (p.Phe4860Leu)
c.6730T>A
c.14559T>A (p.Phe4853Leu)
c.14508T>A (p.Phe4836Leu)
n.1070T>A
c.14613T>A (p.Phe4871Leu)
c.14610T>A (p.Phe4870Leu)
c.14589T>A (p.Phe4863Leu)
c.14583T>A (p.Phe4861Leu)
c.14577T>A (p.Phe4859Leu)
c.14553T>A (p.Phe4851Leu)
c.14376T>A (p.Phe4792Leu)
c.14520T>A (p.Phe4840Leu)
c.14592T>A (p.Phe4864Leu)
1g.237819161T>CCA424051826RYR2c.*5651T>C (n.*5651T>C)
c.14541T>C (p.Phe4847=)
c.14580T>C (p.Phe4860=)
c.6730T>C
c.14559T>C (p.Phe4853=)
c.14508T>C (p.Phe4836=)
n.1070T>C
c.14613T>C (p.Phe4871=)
c.14610T>C (p.Phe4870=)
c.14589T>C (p.Phe4863=)
c.14583T>C (p.Phe4861=)
c.14577T>C (p.Phe4859=)
c.14553T>C (p.Phe4851=)
c.14376T>C (p.Phe4792=)
c.14520T>C (p.Phe4840=)
c.14592T>C (p.Phe4864=)
1g.237819161T>GCA345426630RYR2c.*5651T>G (n.*5651T>G)
c.14541T>G (p.Phe4847Leu)
c.14580T>G (p.Phe4860Leu)
c.6730T>G
c.14559T>G (p.Phe4853Leu)
c.14508T>G (p.Phe4836Leu)
n.1070T>G
c.14613T>G (p.Phe4871Leu)
c.14610T>G (p.Phe4870Leu)
c.14589T>G (p.Phe4863Leu)
c.14583T>G (p.Phe4861Leu)
c.14577T>G (p.Phe4859Leu)
c.14553T>G (p.Phe4851Leu)
c.14376T>G (p.Phe4792Leu)
c.14520T>G (p.Phe4840Leu)
c.14592T>G (p.Phe4864Leu)
 COSMIC
1g.237819162G>ACA345426639RYR2c.*5652G>A (n.*5652G>A)
c.14542G>A (p.Val4848Ile)
c.14581G>A (p.Val4861Ile)
c.6731G>A
c.14560G>A (p.Val4854Ile)
c.14509G>A (p.Val4837Ile)
n.1071G>A
c.14614G>A (p.Val4872Ile)
c.14611G>A (p.Val4871Ile)
c.14590G>A (p.Val4864Ile)
c.14584G>A (p.Val4862Ile)
c.14578G>A (p.Val4860Ile)
c.14554G>A (p.Val4852Ile)
c.14377G>A (p.Val4793Ile)
c.14521G>A (p.Val4841Ile)
c.14593G>A (p.Val4865Ile)
1g.237819162G>CCA345426640RYR2c.*5652G>C (n.*5652G>C)
c.14542G>C (p.Val4848Leu)
c.14581G>C (p.Val4861Leu)
c.6731G>C
c.14560G>C (p.Val4854Leu)
c.14509G>C (p.Val4837Leu)
n.1071G>C
c.14614G>C (p.Val4872Leu)
c.14611G>C (p.Val4871Leu)
c.14590G>C (p.Val4864Leu)
c.14584G>C (p.Val4862Leu)
c.14578G>C (p.Val4860Leu)
c.14554G>C (p.Val4852Leu)
c.14377G>C (p.Val4793Leu)
c.14521G>C (p.Val4841Leu)
c.14593G>C (p.Val4865Leu)
1g.237819162G>TCA345426642RYR2c.*5652G>T (n.*5652G>T)
c.14542G>T (p.Val4848Phe)
c.14581G>T (p.Val4861Phe)
c.6731G>T
c.14560G>T (p.Val4854Phe)
c.14509G>T (p.Val4837Phe)
n.1071G>T
c.14614G>T (p.Val4872Phe)
c.14611G>T (p.Val4871Phe)
c.14590G>T (p.Val4864Phe)
c.14584G>T (p.Val4862Phe)
c.14578G>T (p.Val4860Phe)
c.14554G>T (p.Val4852Phe)
c.14377G>T (p.Val4793Phe)
c.14521G>T (p.Val4841Phe)
c.14593G>T (p.Val4865Phe)
1g.237819163T>ACA345426650RYR2c.*5653T>A (n.*5653T>A)
c.14543T>A (p.Val4848Asp)
c.14582T>A (p.Val4861Asp)
c.6732T>A
c.14561T>A (p.Val4854Asp)
c.14510T>A (p.Val4837Asp)
n.1072T>A
c.14615T>A (p.Val4872Asp)
c.14612T>A (p.Val4871Asp)
c.14591T>A (p.Val4864Asp)
c.14585T>A (p.Val4862Asp)
c.14579T>A (p.Val4860Asp)
c.14555T>A (p.Val4852Asp)
c.14378T>A (p.Val4793Asp)
c.14522T>A (p.Val4841Asp)
c.14594T>A (p.Val4865Asp)
1g.237819163T>CCA345426654RYR2c.*5653T>C (n.*5653T>C)
c.14543T>C (p.Val4848Ala)
c.14582T>C (p.Val4861Ala)
c.6732T>C
c.14561T>C (p.Val4854Ala)
c.14510T>C (p.Val4837Ala)
n.1072T>C
c.14615T>C (p.Val4872Ala)
c.14612T>C (p.Val4871Ala)
c.14591T>C (p.Val4864Ala)
c.14585T>C (p.Val4862Ala)
c.14579T>C (p.Val4860Ala)
c.14555T>C (p.Val4852Ala)
c.14378T>C (p.Val4793Ala)
c.14522T>C (p.Val4841Ala)
c.14594T>C (p.Val4865Ala)
1g.237819163T>GCA345426671RYR2c.*5653T>G (n.*5653T>G)
c.14543T>G (p.Val4848Gly)
c.14582T>G (p.Val4861Gly)
c.6732T>G
c.14561T>G (p.Val4854Gly)
c.14510T>G (p.Val4837Gly)
n.1072T>G
c.14615T>G (p.Val4872Gly)
c.14612T>G (p.Val4871Gly)
c.14591T>G (p.Val4864Gly)
c.14585T>G (p.Val4862Gly)
c.14579T>G (p.Val4860Gly)
c.14555T>G (p.Val4852Gly)
c.14378T>G (p.Val4793Gly)
c.14522T>G (p.Val4841Gly)
c.14594T>G (p.Val4865Gly)
1g.237819164T>ACA424051827RYR2c.*5654T>A (n.*5654T>A)
c.14544T>A (p.Val4848=)
c.14583T>A (p.Val4861=)
c.6733T>A
c.14562T>A (p.Val4854=)
c.14511T>A (p.Val4837=)
n.1073T>A
c.14616T>A (p.Val4872=)
c.14613T>A (p.Val4871=)
c.14592T>A (p.Val4864=)
c.14586T>A (p.Val4862=)
c.14580T>A (p.Val4860=)
c.14556T>A (p.Val4852=)
c.14379T>A (p.Val4793=)
c.14523T>A (p.Val4841=)
c.14595T>A (p.Val4865=)
1g.237819164T>CCA424051828RYR2c.*5654T>C (n.*5654T>C)
c.14544T>C (p.Val4848=)
c.14583T>C (p.Val4861=)
c.6733T>C
c.14562T>C (p.Val4854=)
c.14511T>C (p.Val4837=)
n.1073T>C
c.14616T>C (p.Val4872=)
c.14613T>C (p.Val4871=)
c.14592T>C (p.Val4864=)
c.14586T>C (p.Val4862=)
c.14580T>C (p.Val4860=)
c.14556T>C (p.Val4852=)
c.14379T>C (p.Val4793=)
c.14523T>C (p.Val4841=)
c.14595T>C (p.Val4865=)
1g.237819164T>GCA424051829RYR2c.*5654T>G (n.*5654T>G)
c.14544T>G (p.Val4848=)
c.14583T>G (p.Val4861=)
c.6733T>G
c.14562T>G (p.Val4854=)
c.14511T>G (p.Val4837=)
n.1073T>G
c.14616T>G (p.Val4872=)
c.14613T>G (p.Val4871=)
c.14592T>G (p.Val4864=)
c.14586T>G (p.Val4862=)
c.14580T>G (p.Val4860=)
c.14556T>G (p.Val4852=)
c.14379T>G (p.Val4793=)
c.14523T>G (p.Val4841=)
c.14595T>G (p.Val4865=)
1g.237819165A=CA2487497596RYR2c.*5655A= (n.*5655A=)
c.14545A= (p.Ile4849=)
c.14584A= (p.Ile4862=)
c.6734A=
c.14563A= (p.Ile4855=)
c.14512A= (p.Ile4838=)
n.1074A=
c.14617A= (p.Ile4873=)
c.14614A= (p.Ile4872=)
c.14593A= (p.Ile4865=)
c.14587A= (p.Ile4863=)
c.14581A= (p.Ile4861=)
c.14557A= (p.Ile4853=)
c.14380A= (p.Ile4794=)
c.14524A= (p.Ile4842=)
c.14596A= (p.Ile4866=)
1g.237819165A>CCA345426674RYR2c.*5655A>C (n.*5655A>C)
c.14545A>C (p.Ile4849Leu)
c.14584A>C (p.Ile4862Leu)
c.6734A>C
c.14563A>C (p.Ile4855Leu)
c.14512A>C (p.Ile4838Leu)
n.1074A>C
c.14617A>C (p.Ile4873Leu)
c.14614A>C (p.Ile4872Leu)
c.14593A>C (p.Ile4865Leu)
c.14587A>C (p.Ile4863Leu)
c.14581A>C (p.Ile4861Leu)
c.14557A>C (p.Ile4853Leu)
c.14380A>C (p.Ile4794Leu)
c.14524A>C (p.Ile4842Leu)
c.14596A>C (p.Ile4866Leu)
1g.237819165A>GCA085672RYR2c.*5655A>G (n.*5655A>G)
c.14545A>G (p.Ile4849Val)
c.14584A>G (p.Ile4862Val)
c.6734A>G
c.14563A>G (p.Ile4855Val)
c.14512A>G (p.Ile4838Val)
n.1074A>G
c.14617A>G (p.Ile4873Val)
c.14614A>G (p.Ile4872Val)
c.14593A>G (p.Ile4865Val)
c.14587A>G (p.Ile4863Val)
c.14581A>G (p.Ile4861Val)
c.14557A>G (p.Ile4853Val)
c.14380A>G (p.Ile4794Val)
c.14524A>G (p.Ile4842Val)
c.14596A>G (p.Ile4866Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237819165A>TCA345426678RYR2c.*5655A>T (n.*5655A>T)
c.14545A>T (p.Ile4849Phe)
c.14584A>T (p.Ile4862Phe)
c.6734A>T
c.14563A>T (p.Ile4855Phe)
c.14512A>T (p.Ile4838Phe)
n.1074A>T
c.14617A>T (p.Ile4873Phe)
c.14614A>T (p.Ile4872Phe)
c.14593A>T (p.Ile4865Phe)
c.14587A>T (p.Ile4863Phe)
c.14581A>T (p.Ile4861Phe)
c.14557A>T (p.Ile4853Phe)
c.14380A>T (p.Ile4794Phe)
c.14524A>T (p.Ile4842Phe)
c.14596A>T (p.Ile4866Phe)
1g.237819166T>ACA345426681RYR2c.*5656T>A (n.*5656T>A)
c.14546T>A (p.Ile4849Asn)
c.14585T>A (p.Ile4862Asn)
c.6735T>A
c.14564T>A (p.Ile4855Asn)
c.14513T>A (p.Ile4838Asn)
n.1075T>A
c.14618T>A (p.Ile4873Asn)
c.14615T>A (p.Ile4872Asn)
c.14594T>A (p.Ile4865Asn)
c.14588T>A (p.Ile4863Asn)
c.14582T>A (p.Ile4861Asn)
c.14558T>A (p.Ile4853Asn)
c.14381T>A (p.Ile4794Asn)
c.14525T>A (p.Ile4842Asn)
c.14597T>A (p.Ile4866Asn)
1g.237819166T>CCA345426684RYR2c.*5656T>C (n.*5656T>C)
c.14546T>C (p.Ile4849Thr)
c.14585T>C (p.Ile4862Thr)
c.6735T>C
c.14564T>C (p.Ile4855Thr)
c.14513T>C (p.Ile4838Thr)
n.1075T>C
c.14618T>C (p.Ile4873Thr)
c.14615T>C (p.Ile4872Thr)
c.14594T>C (p.Ile4865Thr)
c.14588T>C (p.Ile4863Thr)
c.14582T>C (p.Ile4861Thr)
c.14558T>C (p.Ile4853Thr)
c.14381T>C (p.Ile4794Thr)
c.14525T>C (p.Ile4842Thr)
c.14597T>C (p.Ile4866Thr)
 ClinVar dbSNP
1g.237819166T>GCA345426689RYR2c.*5656T>G (n.*5656T>G)
c.14546T>G (p.Ile4849Ser)
c.14585T>G (p.Ile4862Ser)
c.6735T>G
c.14564T>G (p.Ile4855Ser)
c.14513T>G (p.Ile4838Ser)
n.1075T>G
c.14618T>G (p.Ile4873Ser)
c.14615T>G (p.Ile4872Ser)
c.14594T>G (p.Ile4865Ser)
c.14588T>G (p.Ile4863Ser)
c.14582T>G (p.Ile4861Ser)
c.14558T>G (p.Ile4853Ser)
c.14381T>G (p.Ile4794Ser)
c.14525T>G (p.Ile4842Ser)
c.14597T>G (p.Ile4866Ser)
1g.237819167T>ACA424051830RYR2c.*5657T>A (n.*5657T>A)
c.14547T>A (p.Ile4849=)
c.14586T>A (p.Ile4862=)
c.6736T>A
c.14565T>A (p.Ile4855=)
c.14514T>A (p.Ile4838=)
n.1076T>A
c.14619T>A (p.Ile4873=)
c.14616T>A (p.Ile4872=)
c.14595T>A (p.Ile4865=)
c.14589T>A (p.Ile4863=)
c.14583T>A (p.Ile4861=)
c.14559T>A (p.Ile4853=)
c.14382T>A (p.Ile4794=)
c.14526T>A (p.Ile4842=)
c.14598T>A (p.Ile4866=)
1g.237819167T>CCA424051831RYR2c.*5657T>C (n.*5657T>C)
c.14547T>C (p.Ile4849=)
c.14586T>C (p.Ile4862=)
c.6736T>C
c.14565T>C (p.Ile4855=)
c.14514T>C (p.Ile4838=)
n.1076T>C
c.14619T>C (p.Ile4873=)
c.14616T>C (p.Ile4872=)
c.14595T>C (p.Ile4865=)
c.14589T>C (p.Ile4863=)
c.14583T>C (p.Ile4861=)
c.14559T>C (p.Ile4853=)
c.14382T>C (p.Ile4794=)
c.14526T>C (p.Ile4842=)
c.14598T>C (p.Ile4866=)
 dbSNP
1g.237819167T>GCA008301RYR2c.*5657T>G (n.*5657T>G)
c.14547T>G (p.Ile4849Met)
c.14586T>G (p.Ile4862Met)
c.6736T>G
c.14565T>G (p.Ile4855Met)
c.14514T>G (p.Ile4838Met)
n.1076T>G
c.14619T>G (p.Ile4873Met)
c.14616T>G (p.Ile4872Met)
c.14595T>G (p.Ile4865Met)
c.14589T>G (p.Ile4863Met)
c.14583T>G (p.Ile4861Met)
c.14559T>G (p.Ile4853Met)
c.14382T>G (p.Ile4794Met)
c.14526T>G (p.Ile4842Met)
c.14598T>G (p.Ile4866Met)
 ClinVar dbSNP
1g.237819167T=CA1148225095RYR2c.*5657T= (n.*5657T=)
c.14547T= (p.Ile4849=)
c.14586T= (p.Ile4862=)
c.6736T=
c.14565T= (p.Ile4855=)
c.14514T= (p.Ile4838=)
n.1076T=
c.14619T= (p.Ile4873=)
c.14616T= (p.Ile4872=)
c.14595T= (p.Ile4865=)
c.14589T= (p.Ile4863=)
c.14583T= (p.Ile4861=)
c.14559T= (p.Ile4853=)
c.14382T= (p.Ile4794=)
c.14526T= (p.Ile4842=)
c.14598T= (p.Ile4866=)
1g.237819168G>ACA345426705RYR2c.*5658G>A (n.*5658G>A)
c.14548G>A (p.Val4850Ile)
c.14587G>A (p.Val4863Ile)
c.6737G>A
c.14566G>A (p.Val4856Ile)
c.14515G>A (p.Val4839Ile)
n.1077G>A
c.14620G>A (p.Val4874Ile)
c.14617G>A (p.Val4873Ile)
c.14596G>A (p.Val4866Ile)
c.14590G>A (p.Val4864Ile)
c.14584G>A (p.Val4862Ile)
c.14560G>A (p.Val4854Ile)
c.14383G>A (p.Val4795Ile)
c.14527G>A (p.Val4843Ile)
c.14599G>A (p.Val4867Ile)
 gnomAD v4 COSMIC
1g.237819168G>CCA345426703RYR2c.*5658G>C (n.*5658G>C)
c.14548G>C (p.Val4850Leu)
c.14587G>C (p.Val4863Leu)
c.6737G>C
c.14566G>C (p.Val4856Leu)
c.14515G>C (p.Val4839Leu)
n.1077G>C
c.14620G>C (p.Val4874Leu)
c.14617G>C (p.Val4873Leu)
c.14596G>C (p.Val4866Leu)
c.14590G>C (p.Val4864Leu)
c.14584G>C (p.Val4862Leu)
c.14560G>C (p.Val4854Leu)
c.14383G>C (p.Val4795Leu)
c.14527G>C (p.Val4843Leu)
c.14599G>C (p.Val4867Leu)
1g.237819168G>TCA345426694RYR2c.*5658G>T (n.*5658G>T)
c.14548G>T (p.Val4850Phe)
c.14587G>T (p.Val4863Phe)
c.6737G>T
c.14566G>T (p.Val4856Phe)
c.14515G>T (p.Val4839Phe)
n.1077G>T
c.14620G>T (p.Val4874Phe)
c.14617G>T (p.Val4873Phe)
c.14596G>T (p.Val4866Phe)
c.14590G>T (p.Val4864Phe)
c.14584G>T (p.Val4862Phe)
c.14560G>T (p.Val4854Phe)
c.14383G>T (p.Val4795Phe)
c.14527G>T (p.Val4843Phe)
c.14599G>T (p.Val4867Phe)
1g.237819169T>ACA345426711RYR2c.*5659T>A (n.*5659T>A)
c.14549T>A (p.Val4850Asp)
c.14588T>A (p.Val4863Asp)
c.6738T>A
c.14567T>A (p.Val4856Asp)
c.14516T>A (p.Val4839Asp)
n.1078T>A
c.14621T>A (p.Val4874Asp)
c.14618T>A (p.Val4873Asp)
c.14597T>A (p.Val4866Asp)
c.14591T>A (p.Val4864Asp)
c.14585T>A (p.Val4862Asp)
c.14561T>A (p.Val4854Asp)
c.14384T>A (p.Val4795Asp)
c.14528T>A (p.Val4843Asp)
c.14600T>A (p.Val4867Asp)
1g.237819169T>CCA345426717RYR2c.*5659T>C (n.*5659T>C)
c.14549T>C (p.Val4850Ala)
c.14588T>C (p.Val4863Ala)
c.6738T>C
c.14567T>C (p.Val4856Ala)
c.14516T>C (p.Val4839Ala)
n.1078T>C
c.14621T>C (p.Val4874Ala)
c.14618T>C (p.Val4873Ala)
c.14597T>C (p.Val4866Ala)
c.14591T>C (p.Val4864Ala)
c.14585T>C (p.Val4862Ala)
c.14561T>C (p.Val4854Ala)
c.14384T>C (p.Val4795Ala)
c.14528T>C (p.Val4843Ala)
c.14600T>C (p.Val4867Ala)
 ClinVar dbSNP
1g.237819169T>GCA345426719RYR2c.*5659T>G (n.*5659T>G)
c.14549T>G (p.Val4850Gly)
c.14588T>G (p.Val4863Gly)
c.6738T>G
c.14567T>G (p.Val4856Gly)
c.14516T>G (p.Val4839Gly)
n.1078T>G
c.14621T>G (p.Val4874Gly)
c.14618T>G (p.Val4873Gly)
c.14597T>G (p.Val4866Gly)
c.14591T>G (p.Val4864Gly)
c.14585T>G (p.Val4862Gly)
c.14561T>G (p.Val4854Gly)
c.14384T>G (p.Val4795Gly)
c.14528T>G (p.Val4843Gly)
c.14600T>G (p.Val4867Gly)
1g.237819170C>ACA424051832RYR2c.*5660C>A (n.*5660C>A)
c.14550C>A (p.Val4850=)
c.14589C>A (p.Val4863=)
c.6739C>A
c.14568C>A (p.Val4856=)
c.14517C>A (p.Val4839=)
n.1079C>A
c.14622C>A (p.Val4874=)
c.14619C>A (p.Val4873=)
c.14598C>A (p.Val4866=)
c.14592C>A (p.Val4864=)
c.14586C>A (p.Val4862=)
c.14562C>A (p.Val4854=)
c.14385C>A (p.Val4795=)
c.14529C>A (p.Val4843=)
c.14601C>A (p.Val4867=)
1g.237819170C>GCA424051833RYR2c.*5660C>G (n.*5660C>G)
c.14550C>G (p.Val4850=)
c.14589C>G (p.Val4863=)
c.6739C>G
c.14568C>G (p.Val4856=)
c.14517C>G (p.Val4839=)
n.1079C>G
c.14622C>G (p.Val4874=)
c.14619C>G (p.Val4873=)
c.14598C>G (p.Val4866=)
c.14592C>G (p.Val4864=)
c.14586C>G (p.Val4862=)
c.14562C>G (p.Val4854=)
c.14385C>G (p.Val4795=)
c.14529C>G (p.Val4843=)
c.14601C>G (p.Val4867=)
 gnomAD v4
1g.237819170C>TCA424051834RYR2c.*5660C>T (n.*5660C>T)
c.14550C>T (p.Val4850=)
c.14589C>T (p.Val4863=)
c.6739C>T
c.14568C>T (p.Val4856=)
c.14517C>T (p.Val4839=)
n.1079C>T
c.14622C>T (p.Val4874=)
c.14619C>T (p.Val4873=)
c.14598C>T (p.Val4866=)
c.14592C>T (p.Val4864=)
c.14586C>T (p.Val4862=)
c.14562C>T (p.Val4854=)
c.14385C>T (p.Val4795=)
c.14529C>T (p.Val4843=)
c.14601C>T (p.Val4867=)
 COSMIC COSMIC
1g.237819171A=CA2487497597RYR2c.*5661A= (n.*5661A=)
c.14551A= (p.Ile4851=)
c.14590A= (p.Ile4864=)
c.6740A=
c.14569A= (p.Ile4857=)
c.14518A= (p.Ile4840=)
n.1080A=
c.14623A= (p.Ile4875=)
c.14620A= (p.Ile4874=)
c.14599A= (p.Ile4867=)
c.14593A= (p.Ile4865=)
c.14587A= (p.Ile4863=)
c.14563A= (p.Ile4855=)
c.14386A= (p.Ile4796=)
c.14530A= (p.Ile4844=)
c.14602A= (p.Ile4868=)
1g.237819171A>CCA345426722RYR2c.*5661A>C (n.*5661A>C)
c.14551A>C (p.Ile4851Leu)
c.14590A>C (p.Ile4864Leu)
c.6740A>C
c.14569A>C (p.Ile4857Leu)
c.14518A>C (p.Ile4840Leu)
n.1080A>C
c.14623A>C (p.Ile4875Leu)
c.14620A>C (p.Ile4874Leu)
c.14599A>C (p.Ile4867Leu)
c.14593A>C (p.Ile4865Leu)
c.14587A>C (p.Ile4863Leu)
c.14563A>C (p.Ile4855Leu)
c.14386A>C (p.Ile4796Leu)
c.14530A>C (p.Ile4844Leu)
c.14602A>C (p.Ile4868Leu)
1g.237819171A>GCA345426727RYR2c.*5661A>G (n.*5661A>G)
c.14551A>G (p.Ile4851Val)
c.14590A>G (p.Ile4864Val)
c.6740A>G
c.14569A>G (p.Ile4857Val)
c.14518A>G (p.Ile4840Val)
n.1080A>G
c.14623A>G (p.Ile4875Val)
c.14620A>G (p.Ile4874Val)
c.14599A>G (p.Ile4867Val)
c.14593A>G (p.Ile4865Val)
c.14587A>G (p.Ile4863Val)
c.14563A>G (p.Ile4855Val)
c.14386A>G (p.Ile4796Val)
c.14530A>G (p.Ile4844Val)
c.14602A>G (p.Ile4868Val)
 ClinVar dbSNP COSMIC COSMIC
1g.237819171A>TCA345426730RYR2c.*5661A>T (n.*5661A>T)
c.14551A>T (p.Ile4851Phe)
c.14590A>T (p.Ile4864Phe)
c.6740A>T
c.14569A>T (p.Ile4857Phe)
c.14518A>T (p.Ile4840Phe)
n.1080A>T
c.14623A>T (p.Ile4875Phe)
c.14620A>T (p.Ile4874Phe)
c.14599A>T (p.Ile4867Phe)
c.14593A>T (p.Ile4865Phe)
c.14587A>T (p.Ile4863Phe)
c.14563A>T (p.Ile4855Phe)
c.14386A>T (p.Ile4796Phe)
c.14530A>T (p.Ile4844Phe)
c.14602A>T (p.Ile4868Phe)
1g.237819172T>ACA345426732RYR2c.*5662T>A (n.*5662T>A)
c.14552T>A (p.Ile4851Asn)
c.14591T>A (p.Ile4864Asn)
c.6741T>A
c.14570T>A (p.Ile4857Asn)
c.14519T>A (p.Ile4840Asn)
n.1081T>A
c.14624T>A (p.Ile4875Asn)
c.14621T>A (p.Ile4874Asn)
c.14600T>A (p.Ile4867Asn)
c.14594T>A (p.Ile4865Asn)
c.14588T>A (p.Ile4863Asn)
c.14564T>A (p.Ile4855Asn)
c.14387T>A (p.Ile4796Asn)
c.14531T>A (p.Ile4844Asn)
c.14603T>A (p.Ile4868Asn)
1g.237819172T>CCA345426735RYR2c.*5662T>C (n.*5662T>C)
c.14552T>C (p.Ile4851Thr)
c.14591T>C (p.Ile4864Thr)
c.6741T>C
c.14570T>C (p.Ile4857Thr)
c.14519T>C (p.Ile4840Thr)
n.1081T>C
c.14624T>C (p.Ile4875Thr)
c.14621T>C (p.Ile4874Thr)
c.14600T>C (p.Ile4867Thr)
c.14594T>C (p.Ile4865Thr)
c.14588T>C (p.Ile4863Thr)
c.14564T>C (p.Ile4855Thr)
c.14387T>C (p.Ile4796Thr)
c.14531T>C (p.Ile4844Thr)
c.14603T>C (p.Ile4868Thr)
1g.237819172T>GCA345426738RYR2c.*5662T>G (n.*5662T>G)
c.14552T>G (p.Ile4851Ser)
c.14591T>G (p.Ile4864Ser)
c.6741T>G
c.14570T>G (p.Ile4857Ser)
c.14519T>G (p.Ile4840Ser)
n.1081T>G
c.14624T>G (p.Ile4875Ser)
c.14621T>G (p.Ile4874Ser)
c.14600T>G (p.Ile4867Ser)
c.14594T>G (p.Ile4865Ser)
c.14588T>G (p.Ile4863Ser)
c.14564T>G (p.Ile4855Ser)
c.14387T>G (p.Ile4796Ser)
c.14531T>G (p.Ile4844Ser)
c.14603T>G (p.Ile4868Ser)
1g.237819173T>ACA424051835RYR2c.*5663T>A (n.*5663T>A)
c.14553T>A (p.Ile4851=)
c.14592T>A (p.Ile4864=)
c.6742T>A
c.14571T>A (p.Ile4857=)
c.14520T>A (p.Ile4840=)
n.1082T>A
c.14625T>A (p.Ile4875=)
c.14622T>A (p.Ile4874=)
c.14601T>A (p.Ile4867=)
c.14595T>A (p.Ile4865=)
c.14589T>A (p.Ile4863=)
c.14565T>A (p.Ile4855=)
c.14388T>A (p.Ile4796=)
c.14532T>A (p.Ile4844=)
c.14604T>A (p.Ile4868=)
1g.237819173T>CCA424051836RYR2c.*5663T>C (n.*5663T>C)
c.14553T>C (p.Ile4851=)
c.14592T>C (p.Ile4864=)
c.6742T>C
c.14571T>C (p.Ile4857=)
c.14520T>C (p.Ile4840=)
n.1082T>C
c.14625T>C (p.Ile4875=)
c.14622T>C (p.Ile4874=)
c.14601T>C (p.Ile4867=)
c.14595T>C (p.Ile4865=)
c.14589T>C (p.Ile4863=)
c.14565T>C (p.Ile4855=)
c.14388T>C (p.Ile4796=)
c.14532T>C (p.Ile4844=)
c.14604T>C (p.Ile4868=)
 ClinVar dbSNP gnomAD v4
1g.237819173T>GCA345426742RYR2c.*5663T>G (n.*5663T>G)
c.14553T>G (p.Ile4851Met)
c.14592T>G (p.Ile4864Met)
c.6742T>G
c.14571T>G (p.Ile4857Met)
c.14520T>G (p.Ile4840Met)
n.1082T>G
c.14625T>G (p.Ile4875Met)
c.14622T>G (p.Ile4874Met)
c.14601T>G (p.Ile4867Met)
c.14595T>G (p.Ile4865Met)
c.14589T>G (p.Ile4863Met)
c.14565T>G (p.Ile4855Met)
c.14388T>G (p.Ile4796Met)
c.14532T>G (p.Ile4844Met)
c.14604T>G (p.Ile4868Met)
1g.237819173T=CA2487497598RYR2c.*5663T= (n.*5663T=)
c.14553T= (p.Ile4851=)
c.14592T= (p.Ile4864=)
c.6742T=
c.14571T= (p.Ile4857=)
c.14520T= (p.Ile4840=)
n.1082T=
c.14625T= (p.Ile4875=)
c.14622T= (p.Ile4874=)
c.14601T= (p.Ile4867=)
c.14595T= (p.Ile4865=)
c.14589T= (p.Ile4863=)
c.14565T= (p.Ile4855=)
c.14388T= (p.Ile4796=)
c.14532T= (p.Ile4844=)
c.14604T= (p.Ile4868=)
1g.237819174C>ACA345426744RYR2c.*5664C>A (n.*5664C>A)
c.14554C>A (p.Leu4852Ile)
c.14593C>A (p.Leu4865Ile)
c.6743C>A
c.14572C>A (p.Leu4858Ile)
c.14521C>A (p.Leu4841Ile)
n.1083C>A
c.14626C>A (p.Leu4876Ile)
c.14623C>A (p.Leu4875Ile)
c.14602C>A (p.Leu4868Ile)
c.14596C>A (p.Leu4866Ile)
c.14590C>A (p.Leu4864Ile)
c.14566C>A (p.Leu4856Ile)
c.14389C>A (p.Leu4797Ile)
c.14533C>A (p.Leu4845Ile)
c.14605C>A (p.Leu4869Ile)
 COSMIC COSMIC
1g.237819174C>GCA345426752RYR2c.*5664C>G (n.*5664C>G)
c.14554C>G (p.Leu4852Val)
c.14593C>G (p.Leu4865Val)
c.6743C>G
c.14572C>G (p.Leu4858Val)
c.14521C>G (p.Leu4841Val)
n.1083C>G
c.14626C>G (p.Leu4876Val)
c.14623C>G (p.Leu4875Val)
c.14602C>G (p.Leu4868Val)
c.14596C>G (p.Leu4866Val)
c.14590C>G (p.Leu4864Val)
c.14566C>G (p.Leu4856Val)
c.14389C>G (p.Leu4797Val)
c.14533C>G (p.Leu4845Val)
c.14605C>G (p.Leu4869Val)
 COSMIC COSMIC
1g.237819174C>TCA345426753RYR2c.*5664C>T (n.*5664C>T)
c.14554C>T (p.Leu4852Phe)
c.14593C>T (p.Leu4865Phe)
c.6743C>T
c.14572C>T (p.Leu4858Phe)
c.14521C>T (p.Leu4841Phe)
n.1083C>T
c.14626C>T (p.Leu4876Phe)
c.14623C>T (p.Leu4875Phe)
c.14602C>T (p.Leu4868Phe)
c.14596C>T (p.Leu4866Phe)
c.14590C>T (p.Leu4864Phe)
c.14566C>T (p.Leu4856Phe)
c.14389C>T (p.Leu4797Phe)
c.14533C>T (p.Leu4845Phe)
c.14605C>T (p.Leu4869Phe)
1g.237819175T>ACA345426756RYR2c.*5665T>A (n.*5665T>A)
c.14555T>A (p.Leu4852His)
c.14594T>A (p.Leu4865His)
c.6744T>A
c.14573T>A (p.Leu4858His)
c.14522T>A (p.Leu4841His)
n.1084T>A
c.14627T>A (p.Leu4876His)
c.14624T>A (p.Leu4875His)
c.14603T>A (p.Leu4868His)
c.14597T>A (p.Leu4866His)
c.14591T>A (p.Leu4864His)
c.14567T>A (p.Leu4856His)
c.14390T>A (p.Leu4797His)
c.14534T>A (p.Leu4845His)
c.14606T>A (p.Leu4869His)
1g.237819175T>CCA345426758RYR2c.*5665T>C (n.*5665T>C)
c.14555T>C (p.Leu4852Pro)
c.14594T>C (p.Leu4865Pro)
c.6744T>C
c.14573T>C (p.Leu4858Pro)
c.14522T>C (p.Leu4841Pro)
n.1084T>C
c.14627T>C (p.Leu4876Pro)
c.14624T>C (p.Leu4875Pro)
c.14603T>C (p.Leu4868Pro)
c.14597T>C (p.Leu4866Pro)
c.14591T>C (p.Leu4864Pro)
c.14567T>C (p.Leu4856Pro)
c.14390T>C (p.Leu4797Pro)
c.14534T>C (p.Leu4845Pro)
c.14606T>C (p.Leu4869Pro)
1g.237819175T>GCA345426755RYR2c.*5665T>G (n.*5665T>G)
c.14555T>G (p.Leu4852Arg)
c.14594T>G (p.Leu4865Arg)
c.6744T>G
c.14573T>G (p.Leu4858Arg)
c.14522T>G (p.Leu4841Arg)
n.1084T>G
c.14627T>G (p.Leu4876Arg)
c.14624T>G (p.Leu4875Arg)
c.14603T>G (p.Leu4868Arg)
c.14597T>G (p.Leu4866Arg)
c.14591T>G (p.Leu4864Arg)
c.14567T>G (p.Leu4856Arg)
c.14390T>G (p.Leu4797Arg)
c.14534T>G (p.Leu4845Arg)
c.14606T>G (p.Leu4869Arg)
1g.237819176C>ACA424051839RYR2c.*5666C>A (n.*5666C>A)
c.14556C>A (p.Leu4852=)
c.14595C>A (p.Leu4865=)
c.6745C>A
c.14574C>A (p.Leu4858=)
c.14523C>A (p.Leu4841=)
n.1085C>A
c.14628C>A (p.Leu4876=)
c.14625C>A (p.Leu4875=)
c.14604C>A (p.Leu4868=)
c.14598C>A (p.Leu4866=)
c.14592C>A (p.Leu4864=)
c.14568C>A (p.Leu4856=)
c.14391C>A (p.Leu4797=)
c.14535C>A (p.Leu4845=)
c.14607C>A (p.Leu4869=)
1g.237819176C>GCA424051838RYR2c.*5666C>G (n.*5666C>G)
c.14556C>G (p.Leu4852=)
c.14595C>G (p.Leu4865=)
c.6745C>G
c.14574C>G (p.Leu4858=)
c.14523C>G (p.Leu4841=)
n.1085C>G
c.14628C>G (p.Leu4876=)
c.14625C>G (p.Leu4875=)
c.14604C>G (p.Leu4868=)
c.14598C>G (p.Leu4866=)
c.14592C>G (p.Leu4864=)
c.14568C>G (p.Leu4856=)
c.14391C>G (p.Leu4797=)
c.14535C>G (p.Leu4845=)
c.14607C>G (p.Leu4869=)
1g.237819176C>TCA424051837RYR2c.*5666C>T (n.*5666C>T)
c.14556C>T (p.Leu4852=)
c.14595C>T (p.Leu4865=)
c.6745C>T
c.14574C>T (p.Leu4858=)
c.14523C>T (p.Leu4841=)
n.1085C>T
c.14628C>T (p.Leu4876=)
c.14625C>T (p.Leu4875=)
c.14604C>T (p.Leu4868=)
c.14598C>T (p.Leu4866=)
c.14592C>T (p.Leu4864=)
c.14568C>T (p.Leu4856=)
c.14391C>T (p.Leu4797=)
c.14535C>T (p.Leu4845=)
c.14607C>T (p.Leu4869=)
 gnomAD v4
1g.237819177T>ACA345426760RYR2c.*5667T>A (n.*5667T>A)
c.14557T>A (p.Leu4853Met)
c.14596T>A (p.Leu4866Met)
c.6746T>A
c.14575T>A (p.Leu4859Met)
c.14524T>A (p.Leu4842Met)
n.1086T>A
c.14629T>A (p.Leu4877Met)
c.14626T>A (p.Leu4876Met)
c.14605T>A (p.Leu4869Met)
c.14599T>A (p.Leu4867Met)
c.14593T>A (p.Leu4865Met)
c.14569T>A (p.Leu4857Met)
c.14392T>A (p.Leu4798Met)
c.14536T>A (p.Leu4846Met)
c.14608T>A (p.Leu4870Met)
1g.237819177T>CCA424051840RYR2c.*5667T>C (n.*5667T>C)
c.14557T>C (p.Leu4853=)
c.14596T>C (p.Leu4866=)
c.6746T>C
c.14575T>C (p.Leu4859=)
c.14524T>C (p.Leu4842=)
n.1086T>C
c.14629T>C (p.Leu4877=)
c.14626T>C (p.Leu4876=)
c.14605T>C (p.Leu4869=)
c.14599T>C (p.Leu4867=)
c.14593T>C (p.Leu4865=)
c.14569T>C (p.Leu4857=)
c.14392T>C (p.Leu4798=)
c.14536T>C (p.Leu4846=)
c.14608T>C (p.Leu4870=)
1g.237819177T>GCA345426762RYR2c.*5667T>G (n.*5667T>G)
c.14557T>G (p.Leu4853Val)
c.14596T>G (p.Leu4866Val)
c.6746T>G
c.14575T>G (p.Leu4859Val)
c.14524T>G (p.Leu4842Val)
n.1086T>G
c.14629T>G (p.Leu4877Val)
c.14626T>G (p.Leu4876Val)
c.14605T>G (p.Leu4869Val)
c.14599T>G (p.Leu4867Val)
c.14593T>G (p.Leu4865Val)
c.14569T>G (p.Leu4857Val)
c.14392T>G (p.Leu4798Val)
c.14536T>G (p.Leu4846Val)
c.14608T>G (p.Leu4870Val)
1g.237819178T>ACA345426764RYR2c.*5668T>A (n.*5668T>A)
c.14558T>A (p.Leu4853Ter)
c.14597T>A (p.Leu4866Ter)
c.6747T>A
c.14576T>A (p.Leu4859Ter)
c.14525T>A (p.Leu4842Ter)
n.1087T>A
c.14630T>A (p.Leu4877Ter)
c.14627T>A (p.Leu4876Ter)
c.14606T>A (p.Leu4869Ter)
c.14600T>A (p.Leu4867Ter)
c.14594T>A (p.Leu4865Ter)
c.14570T>A (p.Leu4857Ter)
c.14393T>A (p.Leu4798Ter)
c.14537T>A (p.Leu4846Ter)
c.14609T>A (p.Leu4870Ter)
1g.237819178T>CCA345426768RYR2c.*5668T>C (n.*5668T>C)
c.14558T>C (p.Leu4853Ser)
c.14597T>C (p.Leu4866Ser)
c.6747T>C
c.14576T>C (p.Leu4859Ser)
c.14525T>C (p.Leu4842Ser)
n.1087T>C
c.14630T>C (p.Leu4877Ser)
c.14627T>C (p.Leu4876Ser)
c.14606T>C (p.Leu4869Ser)
c.14600T>C (p.Leu4867Ser)
c.14594T>C (p.Leu4865Ser)
c.14570T>C (p.Leu4857Ser)
c.14393T>C (p.Leu4798Ser)
c.14537T>C (p.Leu4846Ser)
c.14609T>C (p.Leu4870Ser)
1g.237819178T>GCA345426770RYR2c.*5668T>G (n.*5668T>G)
c.14558T>G (p.Leu4853Trp)
c.14597T>G (p.Leu4866Trp)
c.6747T>G
c.14576T>G (p.Leu4859Trp)
c.14525T>G (p.Leu4842Trp)
n.1087T>G
c.14630T>G (p.Leu4877Trp)
c.14627T>G (p.Leu4876Trp)
c.14606T>G (p.Leu4869Trp)
c.14600T>G (p.Leu4867Trp)
c.14594T>G (p.Leu4865Trp)
c.14570T>G (p.Leu4857Trp)
c.14393T>G (p.Leu4798Trp)
c.14537T>G (p.Leu4846Trp)
c.14609T>G (p.Leu4870Trp)
1g.237819179G>ACA424051841RYR2c.*5669G>A (n.*5669G>A)
c.14559G>A (p.Leu4853=)
c.14598G>A (p.Leu4866=)
c.6748G>A
c.14577G>A (p.Leu4859=)
c.14526G>A (p.Leu4842=)
n.1088G>A
c.14631G>A (p.Leu4877=)
c.14628G>A (p.Leu4876=)
c.14607G>A (p.Leu4869=)
c.14601G>A (p.Leu4867=)
c.14595G>A (p.Leu4865=)
c.14571G>A (p.Leu4857=)
c.14394G>A (p.Leu4798=)
c.14538G>A (p.Leu4846=)
c.14610G>A (p.Leu4870=)
 ClinVar dbSNP gnomAD v4
1g.237819179G>CCA345426772RYR2c.*5669G>C (n.*5669G>C)
c.14559G>C (p.Leu4853Phe)
c.14598G>C (p.Leu4866Phe)
c.6748G>C
c.14577G>C (p.Leu4859Phe)
c.14526G>C (p.Leu4842Phe)
n.1088G>C
c.14631G>C (p.Leu4877Phe)
c.14628G>C (p.Leu4876Phe)
c.14607G>C (p.Leu4869Phe)
c.14601G>C (p.Leu4867Phe)
c.14595G>C (p.Leu4865Phe)
c.14571G>C (p.Leu4857Phe)
c.14394G>C (p.Leu4798Phe)
c.14538G>C (p.Leu4846Phe)
c.14610G>C (p.Leu4870Phe)
1g.237819179G=CA2487497599RYR2c.*5669G= (n.*5669G=)
c.14559G= (p.Leu4853=)
c.14598G= (p.Leu4866=)
c.6748G=
c.14577G= (p.Leu4859=)
c.14526G= (p.Leu4842=)
n.1088G=
c.14631G= (p.Leu4877=)
c.14628G= (p.Leu4876=)
c.14607G= (p.Leu4869=)
c.14601G= (p.Leu4867=)
c.14595G= (p.Leu4865=)
c.14571G= (p.Leu4857=)
c.14394G= (p.Leu4798=)
c.14538G= (p.Leu4846=)
c.14610G= (p.Leu4870=)
1g.237819179G>TCA345426775RYR2c.*5669G>T (n.*5669G>T)
c.14559G>T (p.Leu4853Phe)
c.14598G>T (p.Leu4866Phe)
c.6748G>T
c.14577G>T (p.Leu4859Phe)
c.14526G>T (p.Leu4842Phe)
n.1088G>T
c.14631G>T (p.Leu4877Phe)
c.14628G>T (p.Leu4876Phe)
c.14607G>T (p.Leu4869Phe)
c.14601G>T (p.Leu4867Phe)
c.14595G>T (p.Leu4865Phe)
c.14571G>T (p.Leu4857Phe)
c.14394G>T (p.Leu4798Phe)
c.14538G>T (p.Leu4846Phe)
c.14610G>T (p.Leu4870Phe)
1g.237819180G>ACA345426779RYR2c.*5670G>A (n.*5670G>A)
c.14560G>A (p.Ala4854Thr)
c.14599G>A (p.Ala4867Thr)
c.6749G>A
c.14578G>A (p.Ala4860Thr)
c.14527G>A (p.Ala4843Thr)
n.1089G>A
c.14632G>A (p.Ala4878Thr)
c.14629G>A (p.Ala4877Thr)
c.14608G>A (p.Ala4870Thr)
c.14602G>A (p.Ala4868Thr)
c.14596G>A (p.Ala4866Thr)
c.14572G>A (p.Ala4858Thr)
c.14395G>A (p.Ala4799Thr)
c.14539G>A (p.Ala4847Thr)
c.14611G>A (p.Ala4871Thr)
1g.237819180G>CCA345426783RYR2c.*5670G>C (n.*5670G>C)
c.14560G>C (p.Ala4854Pro)
c.14599G>C (p.Ala4867Pro)
c.6749G>C
c.14578G>C (p.Ala4860Pro)
c.14527G>C (p.Ala4843Pro)
n.1089G>C
c.14632G>C (p.Ala4878Pro)
c.14629G>C (p.Ala4877Pro)
c.14608G>C (p.Ala4870Pro)
c.14602G>C (p.Ala4868Pro)
c.14596G>C (p.Ala4866Pro)
c.14572G>C (p.Ala4858Pro)
c.14395G>C (p.Ala4799Pro)
c.14539G>C (p.Ala4847Pro)
c.14611G>C (p.Ala4871Pro)
1g.237819180G>TCA345426784RYR2c.*5670G>T (n.*5670G>T)
c.14560G>T (p.Ala4854Ser)
c.14599G>T (p.Ala4867Ser)
c.6749G>T
c.14578G>T (p.Ala4860Ser)
c.14527G>T (p.Ala4843Ser)
n.1089G>T
c.14632G>T (p.Ala4878Ser)
c.14629G>T (p.Ala4877Ser)
c.14608G>T (p.Ala4870Ser)
c.14602G>T (p.Ala4868Ser)
c.14596G>T (p.Ala4866Ser)
c.14572G>T (p.Ala4858Ser)
c.14395G>T (p.Ala4799Ser)
c.14539G>T (p.Ala4847Ser)
c.14611G>T (p.Ala4871Ser)
1g.237819181C>ACA345426786RYR2c.*5671C>A (n.*5671C>A)
c.14561C>A (p.Ala4854Asp)
c.14600C>A (p.Ala4867Asp)
c.6750C>A
c.14579C>A (p.Ala4860Asp)
c.14528C>A (p.Ala4843Asp)
n.1090C>A
c.14633C>A (p.Ala4878Asp)
c.14630C>A (p.Ala4877Asp)
c.14609C>A (p.Ala4870Asp)
c.14603C>A (p.Ala4868Asp)
c.14597C>A (p.Ala4866Asp)
c.14573C>A (p.Ala4858Asp)
c.14396C>A (p.Ala4799Asp)
c.14540C>A (p.Ala4847Asp)
c.14612C>A (p.Ala4871Asp)
1g.237819181C=CA1141581398RYR2c.*5671C= (n.*5671C=)
c.14561C= (p.Ala4854=)
c.14600C= (p.Ala4867=)
c.6750C=
c.14579C= (p.Ala4860=)
c.14528C= (p.Ala4843=)
n.1090C=
c.14633C= (p.Ala4878=)
c.14630C= (p.Ala4877=)
c.14609C= (p.Ala4870=)
c.14603C= (p.Ala4868=)
c.14597C= (p.Ala4866=)
c.14573C= (p.Ala4858=)
c.14396C= (p.Ala4799=)
c.14540C= (p.Ala4847=)
c.14612C= (p.Ala4871=)
1g.237819181C>GCA008311RYR2c.*5671C>G (n.*5671C>G)
c.14561C>G (p.Ala4854Gly)
c.14600C>G (p.Ala4867Gly)
c.6750C>G
c.14579C>G (p.Ala4860Gly)
c.14528C>G (p.Ala4843Gly)
n.1090C>G
c.14633C>G (p.Ala4878Gly)
c.14630C>G (p.Ala4877Gly)
c.14609C>G (p.Ala4870Gly)
c.14603C>G (p.Ala4868Gly)
c.14597C>G (p.Ala4866Gly)
c.14573C>G (p.Ala4858Gly)
c.14396C>G (p.Ala4799Gly)
c.14540C>G (p.Ala4847Gly)
c.14612C>G (p.Ala4871Gly)
 ClinVar dbSNP
1g.237819181C>TCA345426792RYR2c.*5671C>T (n.*5671C>T)
c.14561C>T (p.Ala4854Val)
c.14600C>T (p.Ala4867Val)
c.6750C>T
c.14579C>T (p.Ala4860Val)
c.14528C>T (p.Ala4843Val)
n.1090C>T
c.14633C>T (p.Ala4878Val)
c.14630C>T (p.Ala4877Val)
c.14609C>T (p.Ala4870Val)
c.14603C>T (p.Ala4868Val)
c.14597C>T (p.Ala4866Val)
c.14573C>T (p.Ala4858Val)
c.14396C>T (p.Ala4799Val)
c.14540C>T (p.Ala4847Val)
c.14612C>T (p.Ala4871Val)
1g.237819182C>ACA424051842RYR2c.*5672C>A (n.*5672C>A)
c.14562C>A (p.Ala4854=)
c.14601C>A (p.Ala4867=)
c.6751C>A
c.14580C>A (p.Ala4860=)
c.14529C>A (p.Ala4843=)
n.1091C>A
c.14634C>A (p.Ala4878=)
c.14631C>A (p.Ala4877=)
c.14610C>A (p.Ala4870=)
c.14604C>A (p.Ala4868=)
c.14598C>A (p.Ala4866=)
c.14574C>A (p.Ala4858=)
c.14397C>A (p.Ala4799=)
c.14541C>A (p.Ala4847=)
c.14613C>A (p.Ala4871=)
1g.237819182C>GCA424051843RYR2c.*5672C>G (n.*5672C>G)
c.14562C>G (p.Ala4854=)
c.14601C>G (p.Ala4867=)
c.6751C>G
c.14580C>G (p.Ala4860=)
c.14529C>G (p.Ala4843=)
n.1091C>G
c.14634C>G (p.Ala4878=)
c.14631C>G (p.Ala4877=)
c.14610C>G (p.Ala4870=)
c.14604C>G (p.Ala4868=)
c.14598C>G (p.Ala4866=)
c.14574C>G (p.Ala4858=)
c.14397C>G (p.Ala4799=)
c.14541C>G (p.Ala4847=)
c.14613C>G (p.Ala4871=)
1g.237819182C>TCA424051844RYR2c.*5672C>T (n.*5672C>T)
c.14562C>T (p.Ala4854=)
c.14601C>T (p.Ala4867=)
c.6751C>T
c.14580C>T (p.Ala4860=)
c.14529C>T (p.Ala4843=)
n.1091C>T
c.14634C>T (p.Ala4878=)
c.14631C>T (p.Ala4877=)
c.14610C>T (p.Ala4870=)
c.14604C>T (p.Ala4868=)
c.14598C>T (p.Ala4866=)
c.14574C>T (p.Ala4858=)
c.14397C>T (p.Ala4799=)
c.14541C>T (p.Ala4847=)
c.14613C>T (p.Ala4871=)
1g.237819183A>CCA345426805RYR2c.*5673A>C (n.*5673A>C)
c.14563A>C (p.Ile4855Leu)
c.14602A>C (p.Ile4868Leu)
c.6752A>C
c.14581A>C (p.Ile4861Leu)
c.14530A>C (p.Ile4844Leu)
n.1092A>C
c.14635A>C (p.Ile4879Leu)
c.14632A>C (p.Ile4878Leu)
c.14611A>C (p.Ile4871Leu)
c.14605A>C (p.Ile4869Leu)
c.14599A>C (p.Ile4867Leu)
c.14575A>C (p.Ile4859Leu)
c.14398A>C (p.Ile4800Leu)
c.14542A>C (p.Ile4848Leu)
c.14614A>C (p.Ile4872Leu)
1g.237819183A>GCA345426796RYR2c.*5673A>G (n.*5673A>G)
c.14563A>G (p.Ile4855Val)
c.14602A>G (p.Ile4868Val)
c.6752A>G
c.14581A>G (p.Ile4861Val)
c.14530A>G (p.Ile4844Val)
n.1092A>G
c.14635A>G (p.Ile4879Val)
c.14632A>G (p.Ile4878Val)
c.14611A>G (p.Ile4871Val)
c.14605A>G (p.Ile4869Val)
c.14599A>G (p.Ile4867Val)
c.14575A>G (p.Ile4859Val)
c.14398A>G (p.Ile4800Val)
c.14542A>G (p.Ile4848Val)
c.14614A>G (p.Ile4872Val)
1g.237819183A>TCA345426803RYR2c.*5673A>T (n.*5673A>T)
c.14563A>T (p.Ile4855Leu)
c.14602A>T (p.Ile4868Leu)
c.6752A>T
c.14581A>T (p.Ile4861Leu)
c.14530A>T (p.Ile4844Leu)
n.1092A>T
c.14635A>T (p.Ile4879Leu)
c.14632A>T (p.Ile4878Leu)
c.14611A>T (p.Ile4871Leu)
c.14605A>T (p.Ile4869Leu)
c.14599A>T (p.Ile4867Leu)
c.14575A>T (p.Ile4859Leu)
c.14398A>T (p.Ile4800Leu)
c.14542A>T (p.Ile4848Leu)
c.14614A>T (p.Ile4872Leu)
1g.237819184T>ACA345426810RYR2c.*5674T>A (n.*5674T>A)
c.14564T>A (p.Ile4855Lys)
c.14603T>A (p.Ile4868Lys)
c.6753T>A
c.14582T>A (p.Ile4861Lys)
c.14531T>A (p.Ile4844Lys)
n.1093T>A
c.14636T>A (p.Ile4879Lys)
c.14633T>A (p.Ile4878Lys)
c.14612T>A (p.Ile4871Lys)
c.14606T>A (p.Ile4869Lys)
c.14600T>A (p.Ile4867Lys)
c.14576T>A (p.Ile4859Lys)
c.14399T>A (p.Ile4800Lys)
c.14543T>A (p.Ile4848Lys)
c.14615T>A (p.Ile4872Lys)
1g.237819184T>CCA345426813RYR2c.*5674T>C (n.*5674T>C)
c.14564T>C (p.Ile4855Thr)
c.14603T>C (p.Ile4868Thr)
c.6753T>C
c.14582T>C (p.Ile4861Thr)
c.14531T>C (p.Ile4844Thr)
n.1093T>C
c.14636T>C (p.Ile4879Thr)
c.14633T>C (p.Ile4878Thr)
c.14612T>C (p.Ile4871Thr)
c.14606T>C (p.Ile4869Thr)
c.14600T>C (p.Ile4867Thr)
c.14576T>C (p.Ile4859Thr)
c.14399T>C (p.Ile4800Thr)
c.14543T>C (p.Ile4848Thr)
c.14615T>C (p.Ile4872Thr)
 COSMIC COSMIC
1g.237819184T>GCA345426816RYR2c.*5674T>G (n.*5674T>G)
c.14564T>G (p.Ile4855Arg)
c.14603T>G (p.Ile4868Arg)
c.6753T>G
c.14582T>G (p.Ile4861Arg)
c.14531T>G (p.Ile4844Arg)
n.1093T>G
c.14636T>G (p.Ile4879Arg)
c.14633T>G (p.Ile4878Arg)
c.14612T>G (p.Ile4871Arg)
c.14606T>G (p.Ile4869Arg)
c.14600T>G (p.Ile4867Arg)
c.14576T>G (p.Ile4859Arg)
c.14399T>G (p.Ile4800Arg)
c.14543T>G (p.Ile4848Arg)
c.14615T>G (p.Ile4872Arg)
1g.237819185A>CCA424051845RYR2c.*5675A>C (n.*5675A>C)
c.14565A>C (p.Ile4855=)
c.14604A>C (p.Ile4868=)
c.6754A>C
c.14583A>C (p.Ile4861=)
c.14532A>C (p.Ile4844=)
n.1094A>C
c.14637A>C (p.Ile4879=)
c.14634A>C (p.Ile4878=)
c.14613A>C (p.Ile4871=)
c.14607A>C (p.Ile4869=)
c.14601A>C (p.Ile4867=)
c.14577A>C (p.Ile4859=)
c.14400A>C (p.Ile4800=)
c.14544A>C (p.Ile4848=)
c.14616A>C (p.Ile4872=)
1g.237819185A>GCA345426818RYR2c.*5675A>G (n.*5675A>G)
c.14565A>G (p.Ile4855Met)
c.14604A>G (p.Ile4868Met)
c.6754A>G
c.14583A>G (p.Ile4861Met)
c.14532A>G (p.Ile4844Met)
n.1094A>G
c.14637A>G (p.Ile4879Met)
c.14634A>G (p.Ile4878Met)
c.14613A>G (p.Ile4871Met)
c.14607A>G (p.Ile4869Met)
c.14601A>G (p.Ile4867Met)
c.14577A>G (p.Ile4859Met)
c.14400A>G (p.Ile4800Met)
c.14544A>G (p.Ile4848Met)
c.14616A>G (p.Ile4872Met)
1g.237819185A>TCA424051846RYR2c.*5675A>T (n.*5675A>T)
c.14565A>T (p.Ile4855=)
c.14604A>T (p.Ile4868=)
c.6754A>T
c.14583A>T (p.Ile4861=)
c.14532A>T (p.Ile4844=)
n.1094A>T
c.14637A>T (p.Ile4879=)
c.14634A>T (p.Ile4878=)
c.14613A>T (p.Ile4871=)
c.14607A>T (p.Ile4869=)
c.14601A>T (p.Ile4867=)
c.14577A>T (p.Ile4859=)
c.14400A>T (p.Ile4800=)
c.14544A>T (p.Ile4848=)
c.14616A>T (p.Ile4872=)
1g.237819186A>CCA345426824RYR2c.*5676A>C (n.*5676A>C)
c.14566A>C (p.Ile4856Leu)
c.14605A>C (p.Ile4869Leu)
c.6755A>C
c.14584A>C (p.Ile4862Leu)
c.14533A>C (p.Ile4845Leu)
n.1095A>C
c.14638A>C (p.Ile4880Leu)
c.14635A>C (p.Ile4879Leu)
c.14614A>C (p.Ile4872Leu)
c.14608A>C (p.Ile4870Leu)
c.14602A>C (p.Ile4868Leu)
c.14578A>C (p.Ile4860Leu)
c.14401A>C (p.Ile4801Leu)
c.14545A>C (p.Ile4849Leu)
c.14617A>C (p.Ile4873Leu)
1g.237819186A>GCA345426827RYR2c.*5676A>G (n.*5676A>G)
c.14566A>G (p.Ile4856Val)
c.14605A>G (p.Ile4869Val)
c.6755A>G
c.14584A>G (p.Ile4862Val)
c.14533A>G (p.Ile4845Val)
n.1095A>G
c.14638A>G (p.Ile4880Val)
c.14635A>G (p.Ile4879Val)
c.14614A>G (p.Ile4872Val)
c.14608A>G (p.Ile4870Val)
c.14602A>G (p.Ile4868Val)
c.14578A>G (p.Ile4860Val)
c.14401A>G (p.Ile4801Val)
c.14545A>G (p.Ile4849Val)
c.14617A>G (p.Ile4873Val)
1g.237819186A>TCA345426830RYR2c.*5676A>T (n.*5676A>T)
c.14566A>T (p.Ile4856Leu)
c.14605A>T (p.Ile4869Leu)
c.6755A>T
c.14584A>T (p.Ile4862Leu)
c.14533A>T (p.Ile4845Leu)
n.1095A>T
c.14638A>T (p.Ile4880Leu)
c.14635A>T (p.Ile4879Leu)
c.14614A>T (p.Ile4872Leu)
c.14608A>T (p.Ile4870Leu)
c.14602A>T (p.Ile4868Leu)
c.14578A>T (p.Ile4860Leu)
c.14401A>T (p.Ile4801Leu)
c.14545A>T (p.Ile4849Leu)
c.14617A>T (p.Ile4873Leu)
1g.237819187T>ACA345426833RYR2c.*5677T>A (n.*5677T>A)
c.14567T>A (p.Ile4856Lys)
c.14606T>A (p.Ile4869Lys)
c.6756T>A
c.14585T>A (p.Ile4862Lys)
c.14534T>A (p.Ile4845Lys)
n.1096T>A
c.14639T>A (p.Ile4880Lys)
c.14636T>A (p.Ile4879Lys)
c.14615T>A (p.Ile4872Lys)
c.14609T>A (p.Ile4870Lys)
c.14603T>A (p.Ile4868Lys)
c.14579T>A (p.Ile4860Lys)
c.14402T>A (p.Ile4801Lys)
c.14546T>A (p.Ile4849Lys)
c.14618T>A (p.Ile4873Lys)
1g.237819187T>CCA345426834RYR2c.*5677T>C (n.*5677T>C)
c.14567T>C (p.Ile4856Thr)
c.14606T>C (p.Ile4869Thr)
c.6756T>C
c.14585T>C (p.Ile4862Thr)
c.14534T>C (p.Ile4845Thr)
n.1096T>C
c.14639T>C (p.Ile4880Thr)
c.14636T>C (p.Ile4879Thr)
c.14615T>C (p.Ile4872Thr)
c.14609T>C (p.Ile4870Thr)
c.14603T>C (p.Ile4868Thr)
c.14579T>C (p.Ile4860Thr)
c.14402T>C (p.Ile4801Thr)
c.14546T>C (p.Ile4849Thr)
c.14618T>C (p.Ile4873Thr)
 ClinVar dbSNP
1g.237819187T>GCA345426844RYR2c.*5677T>G (n.*5677T>G)
c.14567T>G (p.Ile4856Arg)
c.14606T>G (p.Ile4869Arg)
c.6756T>G
c.14585T>G (p.Ile4862Arg)
c.14534T>G (p.Ile4845Arg)
n.1096T>G
c.14639T>G (p.Ile4880Arg)
c.14636T>G (p.Ile4879Arg)
c.14615T>G (p.Ile4872Arg)
c.14609T>G (p.Ile4870Arg)
c.14603T>G (p.Ile4868Arg)
c.14579T>G (p.Ile4860Arg)
c.14402T>G (p.Ile4801Arg)
c.14546T>G (p.Ile4849Arg)
c.14618T>G (p.Ile4873Arg)
1g.237819187T=CA2487497600RYR2c.*5677T= (n.*5677T=)
c.14567T= (p.Ile4856=)
c.14606T= (p.Ile4869=)
c.6756T=
c.14585T= (p.Ile4862=)
c.14534T= (p.Ile4845=)
n.1096T=
c.14639T= (p.Ile4880=)
c.14636T= (p.Ile4879=)
c.14615T= (p.Ile4872=)
c.14609T= (p.Ile4870=)
c.14603T= (p.Ile4868=)
c.14579T= (p.Ile4860=)
c.14402T= (p.Ile4801=)
c.14546T= (p.Ile4849=)
c.14618T= (p.Ile4873=)
1g.237819188A=CA2487497601RYR2c.*5678A= (n.*5678A=)
c.14568A= (p.Ile4856=)
c.14607A= (p.Ile4869=)
c.6757A=
c.14586A= (p.Ile4862=)
c.14535A= (p.Ile4845=)
n.1097A=
c.14640A= (p.Ile4880=)
c.14637A= (p.Ile4879=)
c.14616A= (p.Ile4872=)
c.14610A= (p.Ile4870=)
c.14604A= (p.Ile4868=)
c.14580A= (p.Ile4860=)
c.14403A= (p.Ile4801=)
c.14547A= (p.Ile4849=)
c.14619A= (p.Ile4873=)
1g.237819188A>CCA424051847RYR2c.*5678A>C (n.*5678A>C)
c.14568A>C (p.Ile4856=)
c.14607A>C (p.Ile4869=)
c.6757A>C
c.14586A>C (p.Ile4862=)
c.14535A>C (p.Ile4845=)
n.1097A>C
c.14640A>C (p.Ile4880=)
c.14637A>C (p.Ile4879=)
c.14616A>C (p.Ile4872=)
c.14610A>C (p.Ile4870=)
c.14604A>C (p.Ile4868=)
c.14580A>C (p.Ile4860=)
c.14403A>C (p.Ile4801=)
c.14547A>C (p.Ile4849=)
c.14619A>C (p.Ile4873=)
1g.237819188A>GCA345426847RYR2c.*5678A>G (n.*5678A>G)
c.14568A>G (p.Ile4856Met)
c.14607A>G (p.Ile4869Met)
c.6757A>G
c.14586A>G (p.Ile4862Met)
c.14535A>G (p.Ile4845Met)
n.1097A>G
c.14640A>G (p.Ile4880Met)
c.14637A>G (p.Ile4879Met)
c.14616A>G (p.Ile4872Met)
c.14610A>G (p.Ile4870Met)
c.14604A>G (p.Ile4868Met)
c.14580A>G (p.Ile4860Met)
c.14403A>G (p.Ile4801Met)
c.14547A>G (p.Ile4849Met)
c.14619A>G (p.Ile4873Met)
 ClinVar dbSNP
1g.237819188A>TCA424051848RYR2c.*5678A>T (n.*5678A>T)
c.14568A>T (p.Ile4856=)
c.14607A>T (p.Ile4869=)
c.6757A>T
c.14586A>T (p.Ile4862=)
c.14535A>T (p.Ile4845=)
n.1097A>T
c.14640A>T (p.Ile4880=)
c.14637A>T (p.Ile4879=)
c.14616A>T (p.Ile4872=)
c.14610A>T (p.Ile4870=)
c.14604A>T (p.Ile4868=)
c.14580A>T (p.Ile4860=)
c.14403A>T (p.Ile4801=)
c.14547A>T (p.Ile4849=)
c.14619A>T (p.Ile4873=)
 gnomAD v4
1g.237819189C>ACA345426852RYR2c.*5679C>A (n.*5679C>A)
c.14569C>A (p.Gln4857Lys)
c.14608C>A (p.Gln4870Lys)
c.6758C>A
c.14587C>A (p.Gln4863Lys)
c.14536C>A (p.Gln4846Lys)
n.1098C>A
c.14641C>A (p.Gln4881Lys)
c.14638C>A (p.Gln4880Lys)
c.14617C>A (p.Gln4873Lys)
c.14611C>A (p.Gln4871Lys)
c.14605C>A (p.Gln4869Lys)
c.14581C>A (p.Gln4861Lys)
c.14404C>A (p.Gln4802Lys)
c.14548C>A (p.Gln4850Lys)
c.14620C>A (p.Gln4874Lys)
1g.237819189C>GCA345426859RYR2c.*5679C>G (n.*5679C>G)
c.14569C>G (p.Gln4857Glu)
c.14608C>G (p.Gln4870Glu)
c.6758C>G
c.14587C>G (p.Gln4863Glu)
c.14536C>G (p.Gln4846Glu)
n.1098C>G
c.14641C>G (p.Gln4881Glu)
c.14638C>G (p.Gln4880Glu)
c.14617C>G (p.Gln4873Glu)
c.14611C>G (p.Gln4871Glu)
c.14605C>G (p.Gln4869Glu)
c.14581C>G (p.Gln4861Glu)
c.14404C>G (p.Gln4802Glu)
c.14548C>G (p.Gln4850Glu)
c.14620C>G (p.Gln4874Glu)
1g.237819189C>TCA345426851RYR2c.*5679C>T (n.*5679C>T)
c.14569C>T (p.Gln4857Ter)
c.14608C>T (p.Gln4870Ter)
c.6758C>T
c.14587C>T (p.Gln4863Ter)
c.14536C>T (p.Gln4846Ter)
n.1098C>T
c.14641C>T (p.Gln4881Ter)
c.14638C>T (p.Gln4880Ter)
c.14617C>T (p.Gln4873Ter)
c.14611C>T (p.Gln4871Ter)
c.14605C>T (p.Gln4869Ter)
c.14581C>T (p.Gln4861Ter)
c.14404C>T (p.Gln4802Ter)
c.14548C>T (p.Gln4850Ter)
c.14620C>T (p.Gln4874Ter)
1g.237819190A>CCA345426861RYR2c.*5680A>C (n.*5680A>C)
c.14570A>C (p.Gln4857Pro)
c.14609A>C (p.Gln4870Pro)
c.6759A>C
c.14588A>C (p.Gln4863Pro)
c.14537A>C (p.Gln4846Pro)
n.1099A>C
c.14642A>C (p.Gln4881Pro)
c.14639A>C (p.Gln4880Pro)
c.14618A>C (p.Gln4873Pro)
c.14612A>C (p.Gln4871Pro)
c.14606A>C (p.Gln4869Pro)
c.14582A>C (p.Gln4861Pro)
c.14405A>C (p.Gln4802Pro)
c.14549A>C (p.Gln4850Pro)
c.14621A>C (p.Gln4874Pro)
1g.237819190A>GCA345426864RYR2c.*5680A>G (n.*5680A>G)
c.14570A>G (p.Gln4857Arg)
c.14609A>G (p.Gln4870Arg)
c.6759A>G
c.14588A>G (p.Gln4863Arg)
c.14537A>G (p.Gln4846Arg)
n.1099A>G
c.14642A>G (p.Gln4881Arg)
c.14639A>G (p.Gln4880Arg)
c.14618A>G (p.Gln4873Arg)
c.14612A>G (p.Gln4871Arg)
c.14606A>G (p.Gln4869Arg)
c.14582A>G (p.Gln4861Arg)
c.14405A>G (p.Gln4802Arg)
c.14549A>G (p.Gln4850Arg)
c.14621A>G (p.Gln4874Arg)
1g.237819190A>TCA345426871RYR2c.*5680A>T (n.*5680A>T)
c.14570A>T (p.Gln4857Leu)
c.14609A>T (p.Gln4870Leu)
c.6759A>T
c.14588A>T (p.Gln4863Leu)
c.14537A>T (p.Gln4846Leu)
n.1099A>T
c.14642A>T (p.Gln4881Leu)
c.14639A>T (p.Gln4880Leu)
c.14618A>T (p.Gln4873Leu)
c.14612A>T (p.Gln4871Leu)
c.14606A>T (p.Gln4869Leu)
c.14582A>T (p.Gln4861Leu)
c.14405A>T (p.Gln4802Leu)
c.14549A>T (p.Gln4850Leu)
c.14621A>T (p.Gln4874Leu)
1g.237819191A>CCA345426875RYR2c.*5681A>C (n.*5681A>C)
c.14571A>C (p.Gln4857His)
c.14610A>C (p.Gln4870His)
c.6760A>C
c.14589A>C (p.Gln4863His)
c.14538A>C (p.Gln4846His)
n.1100A>C
c.14643A>C (p.Gln4881His)
c.14640A>C (p.Gln4880His)
c.14619A>C (p.Gln4873His)
c.14613A>C (p.Gln4871His)
c.14607A>C (p.Gln4869His)
c.14583A>C (p.Gln4861His)
c.14406A>C (p.Gln4802His)
c.14550A>C (p.Gln4850His)
c.14622A>C (p.Gln4874His)
1g.237819191A>GCA424051849RYR2c.*5681A>G (n.*5681A>G)
c.14571A>G (p.Gln4857=)
c.14610A>G (p.Gln4870=)
c.6760A>G
c.14589A>G (p.Gln4863=)
c.14538A>G (p.Gln4846=)
n.1100A>G
c.14643A>G (p.Gln4881=)
c.14640A>G (p.Gln4880=)
c.14619A>G (p.Gln4873=)
c.14613A>G (p.Gln4871=)
c.14607A>G (p.Gln4869=)
c.14583A>G (p.Gln4861=)
c.14406A>G (p.Gln4802=)
c.14550A>G (p.Gln4850=)
c.14622A>G (p.Gln4874=)
 gnomAD v4
1g.237819191A>TCA345426885RYR2c.*5681A>T (n.*5681A>T)
c.14571A>T (p.Gln4857His)
c.14610A>T (p.Gln4870His)
c.6760A>T
c.14589A>T (p.Gln4863His)
c.14538A>T (p.Gln4846His)
n.1100A>T
c.14643A>T (p.Gln4881His)
c.14640A>T (p.Gln4880His)
c.14619A>T (p.Gln4873His)
c.14613A>T (p.Gln4871His)
c.14607A>T (p.Gln4869His)
c.14583A>T (p.Gln4861His)
c.14406A>T (p.Gln4802His)
c.14550A>T (p.Gln4850His)
c.14622A>T (p.Gln4874His)
1g.237819192G>ACA345426886RYR2c.*5682G>A (n.*5682G>A)
c.14572G>A (p.Gly4858Ser)
c.14611G>A (p.Gly4871Ser)
c.6761G>A
c.14590G>A (p.Gly4864Ser)
c.14539G>A (p.Gly4847Ser)
n.1101G>A
c.14644G>A (p.Gly4882Ser)
c.14641G>A (p.Gly4881Ser)
c.14620G>A (p.Gly4874Ser)
c.14614G>A (p.Gly4872Ser)
c.14608G>A (p.Gly4870Ser)
c.14584G>A (p.Gly4862Ser)
c.14407G>A (p.Gly4803Ser)
c.14551G>A (p.Gly4851Ser)
c.14623G>A (p.Gly4875Ser)
1g.237819192G>CCA345426887RYR2c.*5682G>C (n.*5682G>C)
c.14572G>C (p.Gly4858Arg)
c.14611G>C (p.Gly4871Arg)
c.6761G>C
c.14590G>C (p.Gly4864Arg)
c.14539G>C (p.Gly4847Arg)
n.1101G>C
c.14644G>C (p.Gly4882Arg)
c.14641G>C (p.Gly4881Arg)
c.14620G>C (p.Gly4874Arg)
c.14614G>C (p.Gly4872Arg)
c.14608G>C (p.Gly4870Arg)
c.14584G>C (p.Gly4862Arg)
c.14407G>C (p.Gly4803Arg)
c.14551G>C (p.Gly4851Arg)
c.14623G>C (p.Gly4875Arg)
1g.237819192G=CA2487497602RYR2c.*5682G= (n.*5682G=)
c.14572G= (p.Gly4858=)
c.14611G= (p.Gly4871=)
c.6761G=
c.14590G= (p.Gly4864=)
c.14539G= (p.Gly4847=)
n.1101G=
c.14644G= (p.Gly4882=)
c.14641G= (p.Gly4881=)
c.14620G= (p.Gly4874=)
c.14614G= (p.Gly4872=)
c.14608G= (p.Gly4870=)
c.14584G= (p.Gly4862=)
c.14407G= (p.Gly4803=)
c.14551G= (p.Gly4851=)
c.14623G= (p.Gly4875=)
1g.237819192G>TCA345426888RYR2c.*5682G>T (n.*5682G>T)
c.14572G>T (p.Gly4858Cys)
c.14611G>T (p.Gly4871Cys)
c.6761G>T
c.14590G>T (p.Gly4864Cys)
c.14539G>T (p.Gly4847Cys)
n.1101G>T
c.14644G>T (p.Gly4882Cys)
c.14641G>T (p.Gly4881Cys)
c.14620G>T (p.Gly4874Cys)
c.14614G>T (p.Gly4872Cys)
c.14608G>T (p.Gly4870Cys)
c.14584G>T (p.Gly4862Cys)
c.14407G>T (p.Gly4803Cys)
c.14551G>T (p.Gly4851Cys)
c.14623G>T (p.Gly4875Cys)
 ClinVar dbSNP
1g.237819193G>ACA345426889RYR2c.*5682+1G>A (n.*5682+1G>A)
c.14572+1G>A (n.14572+1G>A)
c.14611+1G>A (n.14611+1G>A)
c.6761+1G>A
c.14590+1G>A (n.14590+1G>A)
c.14539+1G>A (n.14539+1G>A)
n.1101+1G>A
c.14644+1G>A (n.14644+1G>A)
c.14641+1G>A (n.14641+1G>A)
c.14620+1G>A (n.14620+1G>A)
c.14614+1G>A (n.14614+1G>A)
c.14608+1G>A (n.14608+1G>A)
c.14584+1G>A (n.14584+1G>A)
c.14407+1G>A (n.14407+1G>A)
c.14551+1G>A (n.14551+1G>A)
c.14623+1G>A (n.14623+1G>A)
 gnomAD v4
1g.237819193G>CCA345426892RYR2c.*5682+1G>C (n.*5682+1G>C)
c.14572+1G>C (n.14572+1G>C)
c.14611+1G>C (n.14611+1G>C)
c.6761+1G>C
c.14590+1G>C (n.14590+1G>C)
c.14539+1G>C (n.14539+1G>C)
n.1101+1G>C
c.14644+1G>C (n.14644+1G>C)
c.14641+1G>C (n.14641+1G>C)
c.14620+1G>C (n.14620+1G>C)
c.14614+1G>C (n.14614+1G>C)
c.14608+1G>C (n.14608+1G>C)
c.14584+1G>C (n.14584+1G>C)
c.14407+1G>C (n.14407+1G>C)
c.14551+1G>C (n.14551+1G>C)
c.14623+1G>C (n.14623+1G>C)
1g.237819193G>TCA345426895RYR2c.*5682+1G>T (n.*5682+1G>T)
c.14572+1G>T (n.14572+1G>T)
c.14611+1G>T (n.14611+1G>T)
c.6761+1G>T
c.14590+1G>T (n.14590+1G>T)
c.14539+1G>T (n.14539+1G>T)
n.1101+1G>T
c.14644+1G>T (n.14644+1G>T)
c.14641+1G>T (n.14641+1G>T)
c.14620+1G>T (n.14620+1G>T)
c.14614+1G>T (n.14614+1G>T)
c.14608+1G>T (n.14608+1G>T)
c.14584+1G>T (n.14584+1G>T)
c.14407+1G>T (n.14407+1G>T)
c.14551+1G>T (n.14551+1G>T)
c.14623+1G>T (n.14623+1G>T)

Number of alleles fetched