Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38543816T>ACA405662852RYR1c.363T>A
c.345T>A
c.11953T>A (p.Trp3985Arg)
c.11938T>A (p.Trp3980Arg)
c.11935T>A (p.Trp3979Arg)
c.562T>A
c.5322T>A
c.11920T>A (p.Trp3974Arg)
c.11950T>A (p.Trp3984Arg)
19g.38543816T>CCA023949RYR1c.363T>C
c.345T>C
c.11953T>C (p.Trp3985Arg)
c.11938T>C (p.Trp3980Arg)
c.11935T>C (p.Trp3979Arg)
c.562T>C
c.5322T>C
c.11920T>C (p.Trp3974Arg)
c.11950T>C (p.Trp3984Arg)
 ClinVar dbSNP gnomAD v4
19g.38543816T>GCA405662851RYR1c.363T>G
c.345T>G
c.11953T>G (p.Trp3985Gly)
c.11938T>G (p.Trp3980Gly)
c.11935T>G (p.Trp3979Gly)
c.562T>G
c.5322T>G
c.11920T>G (p.Trp3974Gly)
c.11950T>G (p.Trp3984Gly)
19g.38543816T=CA2335074538RYR1c.363T=
c.345T=
c.11953T= (p.Trp3985=)
c.11938T= (p.Trp3980=)
c.11935T= (p.Trp3979=)
c.562T=
c.5322T=
c.11920T= (p.Trp3974=)
c.11950T= (p.Trp3984=)
19g.38543817G>ACA405662853RYR1c.364G>A
c.346G>A
c.11954G>A (p.Trp3985Ter)
c.11939G>A (p.Trp3980Ter)
c.11936G>A (p.Trp3979Ter)
c.563G>A
c.5323G>A
c.11921G>A (p.Trp3974Ter)
c.11951G>A (p.Trp3984Ter)
 gnomAD v4
19g.38543817G>CCA405662854RYR1c.364G>C
c.346G>C
c.11954G>C (p.Trp3985Ser)
c.11939G>C (p.Trp3980Ser)
c.11936G>C (p.Trp3979Ser)
c.563G>C
c.5323G>C
c.11921G>C (p.Trp3974Ser)
c.11951G>C (p.Trp3984Ser)
19g.38543817G>TCA405662855RYR1c.364G>T
c.346G>T
c.11954G>T (p.Trp3985Leu)
c.11939G>T (p.Trp3980Leu)
c.11936G>T (p.Trp3979Leu)
c.563G>T
c.5323G>T
c.11921G>T (p.Trp3974Leu)
c.11951G>T (p.Trp3984Leu)
19g.38543819delCA2739276752RYR1c.366del
c.348del
c.11956del (p.Asp3986ThrfsTer13)
c.11941del (p.Asp3981ThrfsTer13)
c.11938del (p.Asp3980ThrfsTer13)
c.565del
c.5325del
c.11923del (p.Asp3975ThrfsTer13)
c.11953del (p.Asp3985ThrfsTer13)
 ClinVar
19g.38543818G>ACA405662856RYR1c.365G>A
c.347G>A
c.11955G>A (p.Trp3985Ter)
c.11940G>A (p.Trp3980Ter)
c.11937G>A (p.Trp3979Ter)
c.564G>A
c.5324G>A
c.11922G>A (p.Trp3974Ter)
c.11952G>A (p.Trp3984Ter)
19g.38543818G>CCA405662857RYR1c.365G>C
c.347G>C
c.11955G>C (p.Trp3985Cys)
c.11940G>C (p.Trp3980Cys)
c.11937G>C (p.Trp3979Cys)
c.564G>C
c.5324G>C
c.11922G>C (p.Trp3974Cys)
c.11952G>C (p.Trp3984Cys)
 dbSNP
19g.38543818G=CA2335074539RYR1c.365G=
c.347G=
c.11955G= (p.Trp3985=)
c.11940G= (p.Trp3980=)
c.11937G= (p.Trp3979=)
c.564G=
c.5324G=
c.11922G= (p.Trp3974=)
c.11952G= (p.Trp3984=)
19g.38543818G>TCA405662858RYR1c.365G>T
c.347G>T
c.11955G>T (p.Trp3985Cys)
c.11940G>T (p.Trp3980Cys)
c.11937G>T (p.Trp3979Cys)
c.564G>T
c.5324G>T
c.11922G>T (p.Trp3974Cys)
c.11952G>T (p.Trp3984Cys)
19g.38543819G>ACA405662859RYR1c.366G>A
c.348G>A
c.11956G>A (p.Asp3986Asn)
c.11941G>A (p.Asp3981Asn)
c.11938G>A (p.Asp3980Asn)
c.565G>A
c.5325G>A
c.11923G>A (p.Asp3975Asn)
c.11953G>A (p.Asp3985Asn)
19g.38543819G>CCA080497RYR1c.366G>C
c.348G>C
c.11956G>C (p.Asp3986His)
c.11941G>C (p.Asp3981His)
c.11938G>C (p.Asp3980His)
c.565G>C
c.5325G>C
c.11923G>C (p.Asp3975His)
c.11953G>C (p.Asp3985His)
19g.38543819G>TCA405662860RYR1c.366G>T
c.348G>T
c.11956G>T (p.Asp3986Tyr)
c.11941G>T (p.Asp3981Tyr)
c.11938G>T (p.Asp3980Tyr)
c.565G>T
c.5325G>T
c.11923G>T (p.Asp3975Tyr)
c.11953G>T (p.Asp3985Tyr)
19g.38543820A>CCA405662861RYR1c.367A>C
c.349A>C
c.11957A>C (p.Asp3986Ala)
c.11942A>C (p.Asp3981Ala)
c.11939A>C (p.Asp3980Ala)
c.566A>C
c.5326A>C
c.11924A>C (p.Asp3975Ala)
c.11954A>C (p.Asp3985Ala)
19g.38543820A>GCA405662862RYR1c.367A>G
c.349A>G
c.11957A>G (p.Asp3986Gly)
c.11942A>G (p.Asp3981Gly)
c.11939A>G (p.Asp3980Gly)
c.566A>G
c.5326A>G
c.11924A>G (p.Asp3975Gly)
c.11954A>G (p.Asp3985Gly)
19g.38543820A>TCA405662863RYR1c.367A>T
c.349A>T
c.11957A>T (p.Asp3986Val)
c.11942A>T (p.Asp3981Val)
c.11939A>T (p.Asp3980Val)
c.566A>T
c.5326A>T
c.11924A>T (p.Asp3975Val)
c.11954A>T (p.Asp3985Val)
19g.38543821C>ACA405662864RYR1c.368C>A
c.350C>A
c.11958C>A (p.Asp3986Glu)
c.11943C>A (p.Asp3981Glu)
c.11940C>A (p.Asp3980Glu)
c.567C>A
c.5327C>A
c.11925C>A (p.Asp3975Glu)
c.11955C>A (p.Asp3985Glu)
19g.38543821C=CA2335074540RYR1c.368C=
c.350C=
c.11958C= (p.Asp3986=)
c.11943C= (p.Asp3981=)
c.11940C= (p.Asp3980=)
c.567C=
c.5327C=
c.11925C= (p.Asp3975=)
c.11955C= (p.Asp3985=)
19g.38543821C>GCA023951RYR1c.368C>G
c.350C>G
c.11958C>G (p.Asp3986Glu)
c.11943C>G (p.Asp3981Glu)
c.11940C>G (p.Asp3980Glu)
c.567C>G
c.5327C>G
c.11925C>G (p.Asp3975Glu)
c.11955C>G (p.Asp3985Glu)
 ClinVar dbSNP gnomAD v4
19g.38543821C>TCA507242642RYR1c.368C>T
c.350C>T
c.11958C>T (p.Asp3986=)
c.11943C>T (p.Asp3981=)
c.11940C>T (p.Asp3980=)
c.567C>T
c.5327C>T
c.11925C>T (p.Asp3975=)
c.11955C>T (p.Asp3985=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543822G>ACA405662865RYR1c.369G>A
c.351G>A
c.11959G>A (p.Ala3987Thr)
c.11944G>A (p.Ala3982Thr)
c.11941G>A (p.Ala3981Thr)
c.568G>A
c.5328G>A
c.11926G>A (p.Ala3976Thr)
c.11956G>A (p.Ala3986Thr)
19g.38543822G>CCA405662866RYR1c.369G>C
c.351G>C
c.11959G>C (p.Ala3987Pro)
c.11944G>C (p.Ala3982Pro)
c.11941G>C (p.Ala3981Pro)
c.568G>C
c.5328G>C
c.11926G>C (p.Ala3976Pro)
c.11956G>C (p.Ala3986Pro)
19g.38543822G>TCA405662867RYR1c.369G>T
c.351G>T
c.11959G>T (p.Ala3987Ser)
c.11944G>T (p.Ala3982Ser)
c.11941G>T (p.Ala3981Ser)
c.568G>T
c.5328G>T
c.11926G>T (p.Ala3976Ser)
c.11956G>T (p.Ala3986Ser)
19g.38543823C>ACA405662868RYR1c.370C>A
c.352C>A
c.11960C>A (p.Ala3987Glu)
c.11945C>A (p.Ala3982Glu)
c.11942C>A (p.Ala3981Glu)
c.569C>A
c.5329C>A
c.11927C>A (p.Ala3976Glu)
c.11957C>A (p.Ala3986Glu)
19g.38543823C>GCA405662869RYR1c.370C>G
c.352C>G
c.11960C>G (p.Ala3987Gly)
c.11945C>G (p.Ala3982Gly)
c.11942C>G (p.Ala3981Gly)
c.569C>G
c.5329C>G
c.11927C>G (p.Ala3976Gly)
c.11957C>G (p.Ala3986Gly)
19g.38543823C>TCA080502RYR1c.370C>T
c.352C>T
c.11960C>T (p.Ala3987Val)
c.11945C>T (p.Ala3982Val)
c.11942C>T (p.Ala3981Val)
c.569C>T
c.5329C>T
c.11927C>T (p.Ala3976Val)
c.11957C>T (p.Ala3986Val)
19g.38543824A>CCA507242643RYR1c.371A>C
c.353A>C
c.11961A>C (p.Ala3987=)
c.11946A>C (p.Ala3982=)
c.11943A>C (p.Ala3981=)
c.570A>C
c.5330A>C
c.11928A>C (p.Ala3976=)
c.11958A>C (p.Ala3986=)
 ClinVar
19g.38543824A>GCA507242644RYR1c.371A>G
c.353A>G
c.11961A>G (p.Ala3987=)
c.11946A>G (p.Ala3982=)
c.11943A>G (p.Ala3981=)
c.570A>G
c.5330A>G
c.11928A>G (p.Ala3976=)
c.11958A>G (p.Ala3986=)
19g.38543824A>TCA507242645RYR1c.371A>T
c.353A>T
c.11961A>T (p.Ala3987=)
c.11946A>T (p.Ala3982=)
c.11943A>T (p.Ala3981=)
c.570A>T
c.5330A>T
c.11928A>T (p.Ala3976=)
c.11958A>T (p.Ala3986=)
19g.38543825G>ACA405662870RYR1c.372G>A
c.354G>A
c.11962G>A (p.Val3988Met)
c.11947G>A (p.Val3983Met)
c.11944G>A (p.Val3982Met)
c.571G>A
c.5331G>A
c.11929G>A (p.Val3977Met)
c.11959G>A (p.Val3987Met)
19g.38543825G>CCA405662871RYR1c.372G>C
c.354G>C
c.11962G>C (p.Val3988Leu)
c.11947G>C (p.Val3983Leu)
c.11944G>C (p.Val3982Leu)
c.571G>C
c.5331G>C
c.11929G>C (p.Val3977Leu)
c.11959G>C (p.Val3987Leu)
19g.38543825G>TCA405662872RYR1c.372G>T
c.354G>T
c.11962G>T (p.Val3988Leu)
c.11947G>T (p.Val3983Leu)
c.11944G>T (p.Val3982Leu)
c.571G>T
c.5331G>T
c.11929G>T (p.Val3977Leu)
c.11959G>T (p.Val3987Leu)
19g.38543826T>ACA405662873RYR1c.373T>A
c.355T>A
c.11963T>A (p.Val3988Glu)
c.11948T>A (p.Val3983Glu)
c.11945T>A (p.Val3982Glu)
c.572T>A
c.5332T>A
c.11930T>A (p.Val3977Glu)
c.11960T>A (p.Val3987Glu)
19g.38543826T>CCA405662874RYR1c.373T>C
c.355T>C
c.11963T>C (p.Val3988Ala)
c.11948T>C (p.Val3983Ala)
c.11945T>C (p.Val3982Ala)
c.572T>C
c.5332T>C
c.11930T>C (p.Val3977Ala)
c.11960T>C (p.Val3987Ala)
19g.38543826T>GCA405662875RYR1c.373T>G
c.355T>G
c.11963T>G (p.Val3988Gly)
c.11948T>G (p.Val3983Gly)
c.11945T>G (p.Val3982Gly)
c.572T>G
c.5332T>G
c.11930T>G (p.Val3977Gly)
c.11960T>G (p.Val3987Gly)
19g.38543827G>ACA507242651RYR1c.374G>A
c.356G>A
c.11964G>A (p.Val3988=)
c.11949G>A (p.Val3983=)
c.11946G>A (p.Val3982=)
c.573G>A
c.5333G>A
c.11931G>A (p.Val3977=)
c.11961G>A (p.Val3987=)
19g.38543827G>CCA507242649RYR1c.374G>C
c.356G>C
c.11964G>C (p.Val3988=)
c.11949G>C (p.Val3983=)
c.11946G>C (p.Val3982=)
c.573G>C
c.5333G>C
c.11931G>C (p.Val3977=)
c.11961G>C (p.Val3987=)
19g.38543827G>TCA507242650RYR1c.374G>T
c.356G>T
c.11964G>T (p.Val3988=)
c.11949G>T (p.Val3983=)
c.11946G>T (p.Val3982=)
c.573G>T
c.5333G>T
c.11931G>T (p.Val3977=)
c.11961G>T (p.Val3987=)
19g.38543828G>ACA057954RYR1c.375G>A
c.357G>A
c.11965G>A (p.Val3989Met)
c.11950G>A (p.Val3984Met)
c.11947G>A (p.Val3983Met)
c.574G>A
c.5334G>A
c.11932G>A (p.Val3978Met)
c.11962G>A (p.Val3988Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543828G>CCA405662877RYR1c.375G>C
c.357G>C
c.11965G>C (p.Val3989Leu)
c.11950G>C (p.Val3984Leu)
c.11947G>C (p.Val3983Leu)
c.574G>C
c.5334G>C
c.11932G>C (p.Val3978Leu)
c.11962G>C (p.Val3988Leu)
19g.38543828G=CA2335074541RYR1c.375G=
c.357G=
c.11965G= (p.Val3989=)
c.11950G= (p.Val3984=)
c.11947G= (p.Val3983=)
c.574G=
c.5334G=
c.11932G= (p.Val3978=)
c.11962G= (p.Val3988=)
19g.38543828G>TCA405662876RYR1c.375G>T
c.357G>T
c.11965G>T (p.Val3989Leu)
c.11950G>T (p.Val3984Leu)
c.11947G>T (p.Val3983Leu)
c.574G>T
c.5334G>T
c.11932G>T (p.Val3978Leu)
c.11962G>T (p.Val3988Leu)
19g.38543829T>ACA405662878RYR1c.376T>A
c.358T>A
c.11966T>A (p.Val3989Glu)
c.11951T>A (p.Val3984Glu)
c.11948T>A (p.Val3983Glu)
c.575T>A
c.5335T>A
c.11933T>A (p.Val3978Glu)
c.11963T>A (p.Val3988Glu)
19g.38543829T>CCA405662881RYR1c.376T>C
c.358T>C
c.11966T>C (p.Val3989Ala)
c.11951T>C (p.Val3984Ala)
c.11948T>C (p.Val3983Ala)
c.575T>C
c.5335T>C
c.11933T>C (p.Val3978Ala)
c.11963T>C (p.Val3988Ala)
19g.38543829T>GCA405662879RYR1c.376T>G
c.358T>G
c.11966T>G (p.Val3989Gly)
c.11951T>G (p.Val3984Gly)
c.11948T>G (p.Val3983Gly)
c.575T>G
c.5335T>G
c.11933T>G (p.Val3978Gly)
c.11963T>G (p.Val3988Gly)
19g.38543830G>ACA507242653RYR1c.377G>A
c.359G>A
c.11967G>A (p.Val3989=)
c.11952G>A (p.Val3984=)
c.11949G>A (p.Val3983=)
c.576G>A
c.5336G>A
c.11934G>A (p.Val3978=)
c.11964G>A (p.Val3988=)
19g.38543830G>CCA507242654RYR1c.377G>C
c.359G>C
c.11967G>C (p.Val3989=)
c.11952G>C (p.Val3984=)
c.11949G>C (p.Val3983=)
c.576G>C
c.5336G>C
c.11934G>C (p.Val3978=)
c.11964G>C (p.Val3988=)
19g.38543830G>TCA507242655RYR1c.377G>T
c.359G>T
c.11967G>T (p.Val3989=)
c.11952G>T (p.Val3984=)
c.11949G>T (p.Val3983=)
c.576G>T
c.5336G>T
c.11934G>T (p.Val3978=)
c.11964G>T (p.Val3988=)
19g.38543831G>ACA080542RYR1c.378G>A
c.360G>A
c.11968G>A (p.Gly3990Arg)
c.11953G>A (p.Gly3985Arg)
c.11950G>A (p.Gly3984Arg)
c.577G>A
c.5337G>A
c.11935G>A (p.Gly3979Arg)
c.11965G>A (p.Gly3989Arg)
19g.38543831G>CCA405662885RYR1c.378G>C
c.360G>C
c.11968G>C (p.Gly3990Arg)
c.11953G>C (p.Gly3985Arg)
c.11950G>C (p.Gly3984Arg)
c.577G>C
c.5337G>C
c.11935G>C (p.Gly3979Arg)
c.11965G>C (p.Gly3989Arg)
19g.38543831G>TCA405662884RYR1c.378G>T
c.360G>T
c.11968G>T (p.Gly3990Ter)
c.11953G>T (p.Gly3985Ter)
c.11950G>T (p.Gly3984Ter)
c.577G>T
c.5337G>T
c.11935G>T (p.Gly3979Ter)
c.11965G>T (p.Gly3989Ter)
19g.38543832G>ACA405662887RYR1c.379G>A
c.361G>A
c.11969G>A (p.Gly3990Glu)
c.11954G>A (p.Gly3985Glu)
c.11951G>A (p.Gly3984Glu)
c.578G>A
c.5338G>A
c.11936G>A (p.Gly3979Glu)
c.11966G>A (p.Gly3989Glu)
19g.38543832G>CCA405662889RYR1c.379G>C
c.361G>C
c.11969G>C (p.Gly3990Ala)
c.11954G>C (p.Gly3985Ala)
c.11951G>C (p.Gly3984Ala)
c.578G>C
c.5338G>C
c.11936G>C (p.Gly3979Ala)
c.11966G>C (p.Gly3989Ala)
 ClinVar dbSNP gnomAD v4
19g.38543832G=CA2335074542RYR1c.379G=
c.361G=
c.11969G= (p.Gly3990=)
c.11954G= (p.Gly3985=)
c.11951G= (p.Gly3984=)
c.578G=
c.5338G=
c.11936G= (p.Gly3979=)
c.11966G= (p.Gly3989=)
19g.38543832G>TCA023953RYR1c.379G>T
c.361G>T
c.11969G>T (p.Gly3990Val)
c.11954G>T (p.Gly3985Val)
c.11951G>T (p.Gly3984Val)
c.578G>T
c.5338G>T
c.11936G>T (p.Gly3979Val)
c.11966G>T (p.Gly3989Val)
 ClinVar dbSNP gnomAD v4
19g.38543833A>CCA507242661RYR1c.380A>C
c.362A>C
c.11970A>C (p.Gly3990=)
c.11955A>C (p.Gly3985=)
c.11952A>C (p.Gly3984=)
c.579A>C
c.5339A>C
c.11937A>C (p.Gly3979=)
c.11967A>C (p.Gly3989=)
19g.38543833A>GCA507242659RYR1c.380A>G
c.362A>G
c.11970A>G (p.Gly3990=)
c.11955A>G (p.Gly3985=)
c.11952A>G (p.Gly3984=)
c.579A>G
c.5339A>G
c.11937A>G (p.Gly3979=)
c.11967A>G (p.Gly3989=)
19g.38543833A>TCA507242662RYR1c.380A>T
c.362A>T
c.11970A>T (p.Gly3990=)
c.11955A>T (p.Gly3985=)
c.11952A>T (p.Gly3984=)
c.579A>T
c.5339A>T
c.11937A>T (p.Gly3979=)
c.11967A>T (p.Gly3989=)
19g.38543834T>ACA405662891RYR1c.381T>A
c.363T>A
c.11971T>A (p.Phe3991Ile)
c.11956T>A (p.Phe3986Ile)
c.11953T>A (p.Phe3985Ile)
c.580T>A
c.5340T>A
c.11938T>A (p.Phe3980Ile)
c.11968T>A (p.Phe3990Ile)
19g.38543834T>CCA405662893RYR1c.381T>C
c.363T>C
c.11971T>C (p.Phe3991Leu)
c.11956T>C (p.Phe3986Leu)
c.11953T>C (p.Phe3985Leu)
c.580T>C
c.5340T>C
c.11938T>C (p.Phe3980Leu)
c.11968T>C (p.Phe3990Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.38543834T>GCA405662895RYR1c.381T>G
c.363T>G
c.11971T>G (p.Phe3991Val)
c.11956T>G (p.Phe3986Val)
c.11953T>G (p.Phe3985Val)
c.580T>G
c.5340T>G
c.11938T>G (p.Phe3980Val)
c.11968T>G (p.Phe3990Val)
19g.38543834T=CA2335074543RYR1c.381T=
c.363T=
c.11971T= (p.Phe3991=)
c.11956T= (p.Phe3986=)
c.11953T= (p.Phe3985=)
c.580T=
c.5340T=
c.11938T= (p.Phe3980=)
c.11968T= (p.Phe3990=)
19g.38543835T>ACA405662897RYR1c.382T>A
c.364T>A
c.11972T>A (p.Phe3991Tyr)
c.11957T>A (p.Phe3986Tyr)
c.11954T>A (p.Phe3985Tyr)
c.581T>A
c.5341T>A
c.11939T>A (p.Phe3980Tyr)
c.11969T>A (p.Phe3990Tyr)
19g.38543835T>CCA405662898RYR1c.382T>C
c.364T>C
c.11972T>C (p.Phe3991Ser)
c.11957T>C (p.Phe3986Ser)
c.11954T>C (p.Phe3985Ser)
c.581T>C
c.5341T>C
c.11939T>C (p.Phe3980Ser)
c.11969T>C (p.Phe3990Ser)
 gnomAD v4
19g.38543835T>GCA405662900RYR1c.382T>G
c.364T>G
c.11972T>G (p.Phe3991Cys)
c.11957T>G (p.Phe3986Cys)
c.11954T>G (p.Phe3985Cys)
c.581T>G
c.5341T>G
c.11939T>G (p.Phe3980Cys)
c.11969T>G (p.Phe3990Cys)
19g.38543836C>ACA405662902RYR1c.383C>A
c.365C>A
c.11973C>A (p.Phe3991Leu)
c.11958C>A (p.Phe3986Leu)
c.11955C>A (p.Phe3985Leu)
c.582C>A
c.5342C>A
c.11940C>A (p.Phe3980Leu)
c.11970C>A (p.Phe3990Leu)
19g.38543836C>GCA405662903RYR1c.383C>G
c.365C>G
c.11973C>G (p.Phe3991Leu)
c.11958C>G (p.Phe3986Leu)
c.11955C>G (p.Phe3985Leu)
c.582C>G
c.5342C>G
c.11940C>G (p.Phe3980Leu)
c.11970C>G (p.Phe3990Leu)
19g.38543836C>TCA507242666RYR1c.383C>T
c.365C>T
c.11973C>T (p.Phe3991=)
c.11958C>T (p.Phe3986=)
c.11955C>T (p.Phe3985=)
c.582C>T
c.5342C>T
c.11940C>T (p.Phe3980=)
c.11970C>T (p.Phe3990=)
19g.38543837C>ACA405662905RYR1c.384C>A
c.366C>A
c.11974C>A (p.Leu3992Met)
c.11959C>A (p.Leu3987Met)
c.11956C>A (p.Leu3986Met)
c.583C>A
c.5343C>A
c.11941C>A (p.Leu3981Met)
c.11971C>A (p.Leu3991Met)
19g.38543837C>GCA405662904RYR1c.384C>G
c.366C>G
c.11974C>G (p.Leu3992Val)
c.11959C>G (p.Leu3987Val)
c.11956C>G (p.Leu3986Val)
c.583C>G
c.5343C>G
c.11941C>G (p.Leu3981Val)
c.11971C>G (p.Leu3991Val)
19g.38543837C>TCA507242670RYR1c.384C>T
c.366C>T
c.11974C>T (p.Leu3992=)
c.11959C>T (p.Leu3987=)
c.11956C>T (p.Leu3986=)
c.583C>T
c.5343C>T
c.11941C>T (p.Leu3981=)
c.11971C>T (p.Leu3991=)
 COSMIC
19g.38543838T>ACA405662906RYR1c.385T>A
c.367T>A
c.11975T>A (p.Leu3992Gln)
c.11960T>A (p.Leu3987Gln)
c.11957T>A (p.Leu3986Gln)
c.584T>A
c.5344T>A
c.11942T>A (p.Leu3981Gln)
c.11972T>A (p.Leu3991Gln)
19g.38543838T>CCA405662908RYR1c.385T>C
c.367T>C
c.11975T>C (p.Leu3992Pro)
c.11960T>C (p.Leu3987Pro)
c.11957T>C (p.Leu3986Pro)
c.584T>C
c.5344T>C
c.11942T>C (p.Leu3981Pro)
c.11972T>C (p.Leu3991Pro)
19g.38543838T>GCA405662910RYR1c.385T>G
c.367T>G
c.11975T>G (p.Leu3992Arg)
c.11960T>G (p.Leu3987Arg)
c.11957T>G (p.Leu3986Arg)
c.584T>G
c.5344T>G
c.11942T>G (p.Leu3981Arg)
c.11972T>G (p.Leu3991Arg)
19g.38543839G>ACA507242671RYR1c.386G>A
c.368G>A
c.11976G>A (p.Leu3992=)
c.11961G>A (p.Leu3987=)
c.11958G>A (p.Leu3986=)
c.585G>A
c.5345G>A
c.11943G>A (p.Leu3981=)
c.11973G>A (p.Leu3991=)
 gnomAD v4
19g.38543839G>CCA507242672RYR1c.386G>C
c.368G>C
c.11976G>C (p.Leu3992=)
c.11961G>C (p.Leu3987=)
c.11958G>C (p.Leu3986=)
c.585G>C
c.5345G>C
c.11943G>C (p.Leu3981=)
c.11973G>C (p.Leu3991=)
19g.38543839G>TCA507242673RYR1c.386G>T
c.368G>T
c.11976G>T (p.Leu3992=)
c.11961G>T (p.Leu3987=)
c.11958G>T (p.Leu3986=)
c.585G>T
c.5345G>T
c.11943G>T (p.Leu3981=)
c.11973G>T (p.Leu3991=)
19g.38543840C>ACA405662912RYR1c.387C>A
c.369C>A
c.11977C>A (p.His3993Asn)
c.11962C>A (p.His3988Asn)
c.11959C>A (p.His3987Asn)
c.586C>A
c.5346C>A
c.11944C>A (p.His3982Asn)
c.11974C>A (p.His3992Asn)
19g.38543840C>GCA405662913RYR1c.387C>G
c.369C>G
c.11977C>G (p.His3993Asp)
c.11962C>G (p.His3988Asp)
c.11959C>G (p.His3987Asp)
c.586C>G
c.5346C>G
c.11944C>G (p.His3982Asp)
c.11974C>G (p.His3992Asp)
19g.38543840C>TCA405662915RYR1c.387C>T
c.369C>T
c.11977C>T (p.His3993Tyr)
c.11962C>T (p.His3988Tyr)
c.11959C>T (p.His3987Tyr)
c.586C>T
c.5346C>T
c.11944C>T (p.His3982Tyr)
c.11974C>T (p.His3992Tyr)
19g.38543841A>CCA405662917RYR1c.388A>C
c.370A>C
c.11978A>C (p.His3993Pro)
c.11963A>C (p.His3988Pro)
c.11960A>C (p.His3987Pro)
c.587A>C
c.5347A>C
c.11945A>C (p.His3982Pro)
c.11975A>C (p.His3992Pro)
19g.38543841A>GCA405662919RYR1c.388A>G
c.370A>G
c.11978A>G (p.His3993Arg)
c.11963A>G (p.His3988Arg)
c.11960A>G (p.His3987Arg)
c.587A>G
c.5347A>G
c.11945A>G (p.His3982Arg)
c.11975A>G (p.His3992Arg)
19g.38543841A>TCA405662920RYR1c.388A>T
c.370A>T
c.11978A>T (p.His3993Leu)
c.11963A>T (p.His3988Leu)
c.11960A>T (p.His3987Leu)
c.587A>T
c.5347A>T
c.11945A>T (p.His3982Leu)
c.11975A>T (p.His3992Leu)
19g.38543842C>ACA405662921RYR1c.389C>A
c.371C>A
c.11979C>A (p.His3993Gln)
c.11964C>A (p.His3988Gln)
c.11961C>A (p.His3987Gln)
c.588C>A
c.5348C>A
c.11946C>A (p.His3982Gln)
c.11976C>A (p.His3992Gln)
 gnomAD v4
19g.38543842C=CA2335074544RYR1c.389C=
c.371C=
c.11979C= (p.His3993=)
c.11964C= (p.His3988=)
c.11961C= (p.His3987=)
c.588C=
c.5348C=
c.11946C= (p.His3982=)
c.11976C= (p.His3992=)
19g.38543842C>GCA405662923RYR1c.389C>G
c.371C>G
c.11979C>G (p.His3993Gln)
c.11964C>G (p.His3988Gln)
c.11961C>G (p.His3987Gln)
c.588C>G
c.5348C>G
c.11946C>G (p.His3982Gln)
c.11976C>G (p.His3992Gln)
19g.38543842C>TCA507242677RYR1c.389C>T
c.371C>T
c.11979C>T (p.His3993=)
c.11964C>T (p.His3988=)
c.11961C>T (p.His3987=)
c.588C>T
c.5348C>T
c.11946C>T (p.His3982=)
c.11976C>T (p.His3992=)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38543843G>ACA405662927RYR1c.390G>A
c.372G>A
c.11980G>A (p.Val3994Met)
c.11965G>A (p.Val3989Met)
c.11962G>A (p.Val3988Met)
c.589G>A
c.5349G>A
c.11947G>A (p.Val3983Met)
c.11977G>A (p.Val3993Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543843G>CCA405662928RYR1c.390G>C
c.372G>C
c.11980G>C (p.Val3994Leu)
c.11965G>C (p.Val3989Leu)
c.11962G>C (p.Val3988Leu)
c.589G>C
c.5349G>C
c.11947G>C (p.Val3983Leu)
c.11977G>C (p.Val3993Leu)
19g.38543843G=CA2335074545RYR1c.390G=
c.372G=
c.11980G= (p.Val3994=)
c.11965G= (p.Val3989=)
c.11962G= (p.Val3988=)
c.589G=
c.5349G=
c.11947G= (p.Val3983=)
c.11977G= (p.Val3993=)
19g.38543843G>TCA405662925RYR1c.390G>T
c.372G>T
c.11980G>T (p.Val3994Leu)
c.11965G>T (p.Val3989Leu)
c.11962G>T (p.Val3988Leu)
c.589G>T
c.5349G>T
c.11947G>T (p.Val3983Leu)
c.11977G>T (p.Val3993Leu)
19g.38543844T>ACA405662930RYR1c.391T>A
c.373T>A
c.11981T>A (p.Val3994Glu)
c.11966T>A (p.Val3989Glu)
c.11963T>A (p.Val3988Glu)
c.590T>A
c.5350T>A
c.11948T>A (p.Val3983Glu)
c.11978T>A (p.Val3993Glu)
19g.38543844T>CCA405662932RYR1c.391T>C
c.373T>C
c.11981T>C (p.Val3994Ala)
c.11966T>C (p.Val3989Ala)
c.11963T>C (p.Val3988Ala)
c.590T>C
c.5350T>C
c.11948T>C (p.Val3983Ala)
c.11978T>C (p.Val3993Ala)
 dbSNP
19g.38543844T>GCA405662934RYR1c.391T>G
c.373T>G
c.11981T>G (p.Val3994Gly)
c.11966T>G (p.Val3989Gly)
c.11963T>G (p.Val3988Gly)
c.590T>G
c.5350T>G
c.11948T>G (p.Val3983Gly)
c.11978T>G (p.Val3993Gly)
19g.38543844T=CA2335074546RYR1c.391T=
c.373T=
c.11981T= (p.Val3994=)
c.11966T= (p.Val3989=)
c.11963T= (p.Val3988=)
c.590T=
c.5350T=
c.11948T= (p.Val3983=)
c.11978T= (p.Val3993=)
19g.38543845G>ACA507242684RYR1c.392G>A
c.374G>A
c.11982G>A (p.Val3994=)
c.11967G>A (p.Val3989=)
c.11964G>A (p.Val3988=)
c.591G>A
c.5351G>A
c.11949G>A (p.Val3983=)
c.11979G>A (p.Val3993=)
 gnomAD v4
19g.38543845G>CCA507242685RYR1c.392G>C
c.374G>C
c.11982G>C (p.Val3994=)
c.11967G>C (p.Val3989=)
c.11964G>C (p.Val3988=)
c.591G>C
c.5351G>C
c.11949G>C (p.Val3983=)
c.11979G>C (p.Val3993=)
19g.38543845G>TCA507242686RYR1c.392G>T
c.374G>T
c.11982G>T (p.Val3994=)
c.11967G>T (p.Val3989=)
c.11964G>T (p.Val3988=)
c.591G>T
c.5351G>T
c.11949G>T (p.Val3983=)
c.11979G>T (p.Val3993=)
19g.38543846T>ACA405662936RYR1c.393T>A
c.375T>A
c.11983T>A (p.Phe3995Ile)
c.11968T>A (p.Phe3990Ile)
c.11965T>A (p.Phe3989Ile)
c.592T>A
c.5352T>A
c.11950T>A (p.Phe3984Ile)
c.11980T>A (p.Phe3994Ile)
19g.38543846T>CCA405662938RYR1c.393T>C
c.375T>C
c.11983T>C (p.Phe3995Leu)
c.11968T>C (p.Phe3990Leu)
c.11965T>C (p.Phe3989Leu)
c.592T>C
c.5352T>C
c.11950T>C (p.Phe3984Leu)
c.11980T>C (p.Phe3994Leu)
19g.38543846T>GCA405662940RYR1c.393T>G
c.375T>G
c.11983T>G (p.Phe3995Val)
c.11968T>G (p.Phe3990Val)
c.11965T>G (p.Phe3989Val)
c.592T>G
c.5352T>G
c.11950T>G (p.Phe3984Val)
c.11980T>G (p.Phe3994Val)
19g.38543847T>ACA405662945RYR1c.394T>A
c.376T>A
c.11984T>A (p.Phe3995Tyr)
c.11969T>A (p.Phe3990Tyr)
c.11966T>A (p.Phe3989Tyr)
c.593T>A
c.5353T>A
c.11951T>A (p.Phe3984Tyr)
c.11981T>A (p.Phe3994Tyr)
19g.38543847T>CCA405662942RYR1c.394T>C
c.376T>C
c.11984T>C (p.Phe3995Ser)
c.11969T>C (p.Phe3990Ser)
c.11966T>C (p.Phe3989Ser)
c.593T>C
c.5353T>C
c.11951T>C (p.Phe3984Ser)
c.11981T>C (p.Phe3994Ser)
19g.38543847T>GCA405662943RYR1c.394T>G
c.376T>G
c.11984T>G (p.Phe3995Cys)
c.11969T>G (p.Phe3990Cys)
c.11966T>G (p.Phe3989Cys)
c.593T>G
c.5353T>G
c.11951T>G (p.Phe3984Cys)
c.11981T>G (p.Phe3994Cys)
19g.38543848C>ACA405662948RYR1c.395C>A
c.377C>A
c.11985C>A (p.Phe3995Leu)
c.11970C>A (p.Phe3990Leu)
c.11967C>A (p.Phe3989Leu)
c.594C>A
c.5354C>A
c.11952C>A (p.Phe3984Leu)
c.11982C>A (p.Phe3994Leu)
 COSMIC
19g.38543848C=CA2335074547RYR1c.395C=
c.377C=
c.11985C= (p.Phe3995=)
c.11970C= (p.Phe3990=)
c.11967C= (p.Phe3989=)
c.594C=
c.5354C=
c.11952C= (p.Phe3984=)
c.11982C= (p.Phe3994=)
19g.38543848C>GCA057962RYR1c.395C>G
c.377C>G
c.11985C>G (p.Phe3995Leu)
c.11970C>G (p.Phe3990Leu)
c.11967C>G (p.Phe3989Leu)
c.594C>G
c.5354C>G
c.11952C>G (p.Phe3984Leu)
c.11982C>G (p.Phe3994Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543848C>TCA16608147RYR1c.395C>T
c.377C>T
c.11985C>T (p.Phe3995=)
c.11970C>T (p.Phe3990=)
c.11967C>T (p.Phe3989=)
c.594C>T
c.5354C>T
c.11952C>T (p.Phe3984=)
c.11982C>T (p.Phe3994=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543849G>ACA405662951RYR1c.396G>A
c.378G>A
c.11986G>A (p.Ala3996Thr)
c.11971G>A (p.Ala3991Thr)
c.11968G>A (p.Ala3990Thr)
c.595G>A
c.5355G>A
c.11953G>A (p.Ala3985Thr)
c.11983G>A (p.Ala3995Thr)
 gnomAD v4
19g.38543849G>CCA405662952RYR1c.396G>C
c.378G>C
c.11986G>C (p.Ala3996Pro)
c.11971G>C (p.Ala3991Pro)
c.11968G>C (p.Ala3990Pro)
c.595G>C
c.5355G>C
c.11953G>C (p.Ala3985Pro)
c.11983G>C (p.Ala3995Pro)
19g.38543849G=CA2335074548RYR1c.396G=
c.378G=
c.11986G= (p.Ala3996=)
c.11971G= (p.Ala3991=)
c.11968G= (p.Ala3990=)
c.595G=
c.5355G=
c.11953G= (p.Ala3985=)
c.11983G= (p.Ala3995=)
19g.38543849G>TCA405662954RYR1c.396G>T
c.378G>T
c.11986G>T (p.Ala3996Ser)
c.11971G>T (p.Ala3991Ser)
c.11968G>T (p.Ala3990Ser)
c.595G>T
c.5355G>T
c.11953G>T (p.Ala3985Ser)
c.11983G>T (p.Ala3995Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.38543850C>ACA405662956RYR1c.397C>A
c.379C>A
c.11987C>A (p.Ala3996Asp)
c.11972C>A (p.Ala3991Asp)
c.11969C>A (p.Ala3990Asp)
c.596C>A
c.5356C>A
c.11954C>A (p.Ala3985Asp)
c.11984C>A (p.Ala3995Asp)
19g.38543850C=CA2335074549RYR1c.397C=
c.379C=
c.11987C= (p.Ala3996=)
c.11972C= (p.Ala3991=)
c.11969C= (p.Ala3990=)
c.596C=
c.5356C=
c.11954C= (p.Ala3985=)
c.11984C= (p.Ala3995=)
19g.38543850C>GCA405662962RYR1c.397C>G
c.379C>G
c.11987C>G (p.Ala3996Gly)
c.11972C>G (p.Ala3991Gly)
c.11969C>G (p.Ala3990Gly)
c.596C>G
c.5356C>G
c.11954C>G (p.Ala3985Gly)
c.11984C>G (p.Ala3995Gly)
19g.38543850C>TCA405662960RYR1c.397C>T
c.379C>T
c.11987C>T (p.Ala3996Val)
c.11972C>T (p.Ala3991Val)
c.11969C>T (p.Ala3990Val)
c.596C>T
c.5356C>T
c.11954C>T (p.Ala3985Val)
c.11984C>T (p.Ala3995Val)
 dbSNP gnomAD v4
19g.38543851C>ACA507242699RYR1c.398C>A
c.380C>A
c.11988C>A (p.Ala3996=)
c.11973C>A (p.Ala3991=)
c.11970C>A (p.Ala3990=)
c.597C>A
c.5357C>A
c.11955C>A (p.Ala3985=)
c.11985C>A (p.Ala3995=)
 gnomAD v4
19g.38543851C>GCA080543RYR1c.398C>G
c.380C>G
c.11988C>G (p.Ala3996=)
c.11973C>G (p.Ala3991=)
c.11970C>G (p.Ala3990=)
c.597C>G
c.5357C>G
c.11955C>G (p.Ala3985=)
c.11985C>G (p.Ala3995=)
19g.38543851C>TCA507242700RYR1c.398C>T
c.380C>T
c.11988C>T (p.Ala3996=)
c.11973C>T (p.Ala3991=)
c.11970C>T (p.Ala3990=)
c.597C>T
c.5357C>T
c.11955C>T (p.Ala3985=)
c.11985C>T (p.Ala3995=)
 ClinVar
19g.38543852C>ACA405662964RYR1c.399C>A
c.381C>A
c.11989C>A (p.His3997Asn)
c.11974C>A (p.His3992Asn)
c.11971C>A (p.His3991Asn)
c.598C>A
c.5358C>A
c.11956C>A (p.His3986Asn)
c.11986C>A (p.His3996Asn)
19g.38543852C=CA2335074550RYR1c.399C=
c.381C=
c.11989C= (p.His3997=)
c.11974C= (p.His3992=)
c.11971C= (p.His3991=)
c.598C=
c.5358C=
c.11956C= (p.His3986=)
c.11986C= (p.His3996=)
19g.38543852C>GCA405662966RYR1c.399C>G
c.381C>G
c.11989C>G (p.His3997Asp)
c.11974C>G (p.His3992Asp)
c.11971C>G (p.His3991Asp)
c.598C>G
c.5358C>G
c.11956C>G (p.His3986Asp)
c.11986C>G (p.His3996Asp)
19g.38543852C>TCA405662967RYR1c.399C>T
c.381C>T
c.11989C>T (p.His3997Tyr)
c.11974C>T (p.His3992Tyr)
c.11971C>T (p.His3991Tyr)
c.598C>T
c.5358C>T
c.11956C>T (p.His3986Tyr)
c.11986C>T (p.His3996Tyr)
 dbSNP gnomAD v4
19g.38543853A>CCA405662970RYR1c.400A>C
c.382A>C
c.11990A>C (p.His3997Pro)
c.11975A>C (p.His3992Pro)
c.11972A>C (p.His3991Pro)
c.599A>C
c.5359A>C
c.11957A>C (p.His3986Pro)
c.11987A>C (p.His3996Pro)
19g.38543853A>GCA405662971RYR1c.400A>G
c.382A>G
c.11990A>G (p.His3997Arg)
c.11975A>G (p.His3992Arg)
c.11972A>G (p.His3991Arg)
c.599A>G
c.5359A>G
c.11957A>G (p.His3986Arg)
c.11987A>G (p.His3996Arg)
 gnomAD v4
19g.38543853A>TCA405662973RYR1c.400A>T
c.382A>T
c.11990A>T (p.His3997Leu)
c.11975A>T (p.His3992Leu)
c.11972A>T (p.His3991Leu)
c.599A>T
c.5359A>T
c.11957A>T (p.His3986Leu)
c.11987A>T (p.His3996Leu)
19g.38543854C>ACA405662975RYR1c.401C>A
c.383C>A
c.11991C>A (p.His3997Gln)
c.11976C>A (p.His3992Gln)
c.11973C>A (p.His3991Gln)
c.600C>A
c.5360C>A
c.11958C>A (p.His3986Gln)
c.11988C>A (p.His3996Gln)
19g.38543854C>GCA405662977RYR1c.401C>G
c.383C>G
c.11991C>G (p.His3997Gln)
c.11976C>G (p.His3992Gln)
c.11973C>G (p.His3991Gln)
c.600C>G
c.5360C>G
c.11958C>G (p.His3986Gln)
c.11988C>G (p.His3996Gln)
19g.38543854C>TCA507242704RYR1c.401C>T
c.383C>T
c.11991C>T (p.His3997=)
c.11976C>T (p.His3992=)
c.11973C>T (p.His3991=)
c.600C>T
c.5360C>T
c.11958C>T (p.His3986=)
c.11988C>T (p.His3996=)
19g.38543855A=CA2335074551RYR1c.402A=
c.384A=
c.11992A= (p.Met3998=)
c.11977A= (p.Met3993=)
c.11974A= (p.Met3992=)
c.601A=
c.5361A=
c.11959A= (p.Met3987=)
c.11989A= (p.Met3997=)
19g.38543855A>CCA405662979RYR1c.402A>C
c.384A>C
c.11992A>C (p.Met3998Leu)
c.11977A>C (p.Met3993Leu)
c.11974A>C (p.Met3992Leu)
c.601A>C
c.5361A>C
c.11959A>C (p.Met3987Leu)
c.11989A>C (p.Met3997Leu)
19g.38543855A>GCA405662981RYR1c.402A>G
c.384A>G
c.11992A>G (p.Met3998Val)
c.11977A>G (p.Met3993Val)
c.11974A>G (p.Met3992Val)
c.601A>G
c.5361A>G
c.11959A>G (p.Met3987Val)
c.11989A>G (p.Met3997Val)
 dbSNP gnomAD v2 gnomAD v4
19g.38543855A>TCA405662982RYR1c.402A>T
c.384A>T
c.11992A>T (p.Met3998Leu)
c.11977A>T (p.Met3993Leu)
c.11974A>T (p.Met3992Leu)
c.601A>T
c.5361A>T
c.11959A>T (p.Met3987Leu)
c.11989A>T (p.Met3997Leu)
19g.38543855dupCA2740096889RYR1c.402dup
c.384dup
c.11992dup (p.Met3998AsnfsTer?)
c.11977dup (p.Met3993AsnfsTer?)
c.11974dup (p.Met3992AsnfsTer?)
c.601dup
c.5361dup
c.11959dup (p.Met3987AsnfsTer?)
c.11989dup (p.Met3997AsnfsTer?)
 ClinVar
19g.38543862_38543864delCA2580613115RYR1c.409_411del
c.391_393del
c.11999_12001del (p.Met4000del)
c.11984_11986del (p.Met3995del)
c.11981_11983del (p.Met3994del)
c.608_610del
c.5368_5370del
c.11966_11968del (p.Met3989del)
c.11996_11998del (p.Met3999del)
 ClinVar dbSNP
19g.38543856T>ACA405662988RYR1c.403T>A
c.385T>A
c.11993T>A (p.Met3998Lys)
c.11978T>A (p.Met3993Lys)
c.11975T>A (p.Met3992Lys)
c.602T>A
c.5362T>A
c.11960T>A (p.Met3987Lys)
c.11990T>A (p.Met3997Lys)
19g.38543856T>CCA405662986RYR1c.403T>C
c.385T>C
c.11993T>C (p.Met3998Thr)
c.11978T>C (p.Met3993Thr)
c.11975T>C (p.Met3992Thr)
c.602T>C
c.5362T>C
c.11960T>C (p.Met3987Thr)
c.11990T>C (p.Met3997Thr)
19g.38543856T>GCA405662984RYR1c.403T>G
c.385T>G
c.11993T>G (p.Met3998Arg)
c.11978T>G (p.Met3993Arg)
c.11975T>G (p.Met3992Arg)
c.602T>G
c.5362T>G
c.11960T>G (p.Met3987Arg)
c.11990T>G (p.Met3997Arg)
 gnomAD v4
19g.38543857G>ACA405662989RYR1c.404G>A
c.386G>A
c.11994G>A (p.Met3998Ile)
c.11979G>A (p.Met3993Ile)
c.11976G>A (p.Met3992Ile)
c.603G>A
c.5363G>A
c.11961G>A (p.Met3987Ile)
c.11991G>A (p.Met3997Ile)
19g.38543857G>CCA405662993RYR1c.404G>C
c.386G>C
c.11994G>C (p.Met3998Ile)
c.11979G>C (p.Met3993Ile)
c.11976G>C (p.Met3992Ile)
c.603G>C
c.5363G>C
c.11961G>C (p.Met3987Ile)
c.11991G>C (p.Met3997Ile)
19g.38543857G>TCA405662991RYR1c.404G>T
c.386G>T
c.11994G>T (p.Met3998Ile)
c.11979G>T (p.Met3993Ile)
c.11976G>T (p.Met3992Ile)
c.603G>T
c.5363G>T
c.11961G>T (p.Met3987Ile)
c.11991G>T (p.Met3997Ile)
19g.38543858A>CCA405662995RYR1c.405A>C
c.387A>C
c.11995A>C (p.Met3999Leu)
c.11980A>C (p.Met3994Leu)
c.11977A>C (p.Met3993Leu)
c.604A>C
c.5364A>C
c.11962A>C (p.Met3988Leu)
c.11992A>C (p.Met3998Leu)
19g.38543858A>GCA405662996RYR1c.405A>G
c.387A>G
c.11995A>G (p.Met3999Val)
c.11980A>G (p.Met3994Val)
c.11977A>G (p.Met3993Val)
c.604A>G
c.5364A>G
c.11962A>G (p.Met3988Val)
c.11992A>G (p.Met3998Val)
19g.38543858A>TCA405662997RYR1c.405A>T
c.387A>T
c.11995A>T (p.Met3999Leu)
c.11980A>T (p.Met3994Leu)
c.11977A>T (p.Met3993Leu)
c.604A>T
c.5364A>T
c.11962A>T (p.Met3988Leu)
c.11992A>T (p.Met3998Leu)
19g.38543859T>ACA405662999RYR1c.406T>A
c.388T>A
c.11996T>A (p.Met3999Lys)
c.11981T>A (p.Met3994Lys)
c.11978T>A (p.Met3993Lys)
c.605T>A
c.5365T>A
c.11963T>A (p.Met3988Lys)
c.11993T>A (p.Met3998Lys)
19g.38543859T>CCA405663001RYR1c.406T>C
c.388T>C
c.11996T>C (p.Met3999Thr)
c.11981T>C (p.Met3994Thr)
c.11978T>C (p.Met3993Thr)
c.605T>C
c.5365T>C
c.11963T>C (p.Met3988Thr)
c.11993T>C (p.Met3998Thr)
19g.38543859T>GCA405663003RYR1c.406T>G
c.388T>G
c.11996T>G (p.Met3999Arg)
c.11981T>G (p.Met3994Arg)
c.11978T>G (p.Met3993Arg)
c.605T>G
c.5365T>G
c.11963T>G (p.Met3988Arg)
c.11993T>G (p.Met3998Arg)
19g.38543860G>ACA405663005RYR1c.407G>A
c.389G>A
c.11997G>A (p.Met3999Ile)
c.11982G>A (p.Met3994Ile)
c.11979G>A (p.Met3993Ile)
c.606G>A
c.5366G>A
c.11964G>A (p.Met3988Ile)
c.11994G>A (p.Met3998Ile)
 gnomAD v4
19g.38543860G>CCA405663007RYR1c.407G>C
c.389G>C
c.11997G>C (p.Met3999Ile)
c.11982G>C (p.Met3994Ile)
c.11979G>C (p.Met3993Ile)
c.606G>C
c.5366G>C
c.11964G>C (p.Met3988Ile)
c.11994G>C (p.Met3998Ile)
19g.38543860G>TCA405663008RYR1c.407G>T
c.389G>T
c.11997G>T (p.Met3999Ile)
c.11982G>T (p.Met3994Ile)
c.11979G>T (p.Met3993Ile)
c.606G>T
c.5366G>T
c.11964G>T (p.Met3988Ile)
c.11994G>T (p.Met3998Ile)
19g.38543861A=CA2335074552RYR1c.408A=
c.390A=
c.11998A= (p.Met4000=)
c.11983A= (p.Met3995=)
c.11980A= (p.Met3994=)
c.607A=
c.5367A=
c.11965A= (p.Met3989=)
c.11995A= (p.Met3999=)
19g.38543861A>CCA405663009RYR1c.408A>C
c.390A>C
c.11998A>C (p.Met4000Leu)
c.11983A>C (p.Met3995Leu)
c.11980A>C (p.Met3994Leu)
c.607A>C
c.5367A>C
c.11965A>C (p.Met3989Leu)
c.11995A>C (p.Met3999Leu)
19g.38543861A>GCA057977RYR1c.408A>G
c.390A>G
c.11998A>G (p.Met4000Val)
c.11983A>G (p.Met3995Val)
c.11980A>G (p.Met3994Val)
c.607A>G
c.5367A>G
c.11965A>G (p.Met3989Val)
c.11995A>G (p.Met3999Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543861A>TCA405663011RYR1c.408A>T
c.390A>T
c.11998A>T (p.Met4000Leu)
c.11983A>T (p.Met3995Leu)
c.11980A>T (p.Met3994Leu)
c.607A>T
c.5367A>T
c.11965A>T (p.Met3989Leu)
c.11995A>T (p.Met3999Leu)
19g.38543862T>ACA405663015RYR1c.409T>A
c.391T>A
c.11999T>A (p.Met4000Lys)
c.11984T>A (p.Met3995Lys)
c.11981T>A (p.Met3994Lys)
c.608T>A
c.5368T>A
c.11966T>A (p.Met3989Lys)
c.11996T>A (p.Met3999Lys)
19g.38543862T>CCA405663013RYR1c.409T>C
c.391T>C
c.11999T>C (p.Met4000Thr)
c.11984T>C (p.Met3995Thr)
c.11981T>C (p.Met3994Thr)
c.608T>C
c.5368T>C
c.11966T>C (p.Met3989Thr)
c.11996T>C (p.Met3999Thr)
19g.38543862T>GCA405663014RYR1c.409T>G
c.391T>G
c.11999T>G (p.Met4000Arg)
c.11984T>G (p.Met3995Arg)
c.11981T>G (p.Met3994Arg)
c.608T>G
c.5368T>G
c.11966T>G (p.Met3989Arg)
c.11996T>G (p.Met3999Arg)
19g.38543863G>ACA405663017RYR1c.410G>A
c.392G>A
c.12000G>A (p.Met4000Ile)
c.11985G>A (p.Met3995Ile)
c.11982G>A (p.Met3994Ile)
c.609G>A
c.5369G>A
c.11967G>A (p.Met3989Ile)
c.11997G>A (p.Met3999Ile)
 ClinVar dbSNP
19g.38543863G>CCA405663018RYR1c.410G>C
c.392G>C
c.12000G>C (p.Met4000Ile)
c.11985G>C (p.Met3995Ile)
c.11982G>C (p.Met3994Ile)
c.609G>C
c.5369G>C
c.11967G>C (p.Met3989Ile)
c.11997G>C (p.Met3999Ile)
19g.38543863G=CA2335074553RYR1c.410G=
c.392G=
c.12000G= (p.Met4000=)
c.11985G= (p.Met3995=)
c.11982G= (p.Met3994=)
c.609G=
c.5369G=
c.11967G= (p.Met3989=)
c.11997G= (p.Met3999=)
19g.38543863G>TCA405663020RYR1c.410G>T
c.392G>T
c.12000G>T (p.Met4000Ile)
c.11985G>T (p.Met3995Ile)
c.11982G>T (p.Met3994Ile)
c.609G>T
c.5369G>T
c.11967G>T (p.Met3989Ile)
c.11997G>T (p.Met3999Ile)
19g.38543864A>CCA405663022RYR1c.411A>C
c.393A>C
c.12001A>C (p.Lys4001Gln)
c.11986A>C (p.Lys3996Gln)
c.11983A>C (p.Lys3995Gln)
c.610A>C
c.5370A>C
c.11968A>C (p.Lys3990Gln)
c.11998A>C (p.Lys4000Gln)
19g.38543864A>GCA080544RYR1c.411A>G
c.393A>G
c.12001A>G (p.Lys4001Glu)
c.11986A>G (p.Lys3996Glu)
c.11983A>G (p.Lys3995Glu)
c.610A>G
c.5370A>G
c.11968A>G (p.Lys3990Glu)
c.11998A>G (p.Lys4000Glu)
19g.38543864A>TCA405663024RYR1c.411A>T
c.393A>T
c.12001A>T (p.Lys4001Ter)
c.11986A>T (p.Lys3996Ter)
c.11983A>T (p.Lys3995Ter)
c.610A>T
c.5370A>T
c.11968A>T (p.Lys3990Ter)
c.11998A>T (p.Lys4000Ter)
19g.38543865A=CA2335074554RYR1c.412A=
c.394A=
c.12002A= (p.Lys4001=)
c.11987A= (p.Lys3996=)
c.11984A= (p.Lys3995=)
c.611A=
c.5371A=
c.11969A= (p.Lys3990=)
c.11999A= (p.Lys4000=)
19g.38543865A>CCA405663026RYR1c.412A>C
c.394A>C
c.12002A>C (p.Lys4001Thr)
c.11987A>C (p.Lys3996Thr)
c.11984A>C (p.Lys3995Thr)
c.611A>C
c.5371A>C
c.11969A>C (p.Lys3990Thr)
c.11999A>C (p.Lys4000Thr)
19g.38543865A>GCA405663028RYR1c.412A>G
c.394A>G
c.12002A>G (p.Lys4001Arg)
c.11987A>G (p.Lys3996Arg)
c.11984A>G (p.Lys3995Arg)
c.611A>G
c.5371A>G
c.11969A>G (p.Lys3990Arg)
c.11999A>G (p.Lys4000Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543865A>TCA405663030RYR1c.412A>T
c.394A>T
c.12002A>T (p.Lys4001Met)
c.11987A>T (p.Lys3996Met)
c.11984A>T (p.Lys3995Met)
c.611A>T
c.5371A>T
c.11969A>T (p.Lys3990Met)
c.11999A>T (p.Lys4000Met)
19g.38543866G>ACA507242718RYR1c.413G>A
c.395G>A
c.12003G>A (p.Lys4001=)
c.11988G>A (p.Lys3996=)
c.11985G>A (p.Lys3995=)
c.612G>A
c.5372G>A
c.11970G>A (p.Lys3990=)
c.12000G>A (p.Lys4000=)
19g.38543866G>CCA405663032RYR1c.413G>C
c.395G>C
c.12003G>C (p.Lys4001Asn)
c.11988G>C (p.Lys3996Asn)
c.11985G>C (p.Lys3995Asn)
c.612G>C
c.5372G>C
c.11970G>C (p.Lys3990Asn)
c.12000G>C (p.Lys4000Asn)
19g.38543866G>TCA405663033RYR1c.413G>T
c.395G>T
c.12003G>T (p.Lys4001Asn)
c.11988G>T (p.Lys3996Asn)
c.11985G>T (p.Lys3995Asn)
c.612G>T
c.5372G>T
c.11970G>T (p.Lys3990Asn)
c.12000G>T (p.Lys4000Asn)
19g.38543867C>ACA405663037RYR1c.414C>A
c.396C>A
c.12004C>A (p.Leu4002Ile)
c.11989C>A (p.Leu3997Ile)
c.11986C>A (p.Leu3996Ile)
c.613C>A
c.5373C>A
c.11971C>A (p.Leu3991Ile)
c.12001C>A (p.Leu4001Ile)
19g.38543867C>GCA405663036RYR1c.414C>G
c.396C>G
c.12004C>G (p.Leu4002Val)
c.11989C>G (p.Leu3997Val)
c.11986C>G (p.Leu3996Val)
c.613C>G
c.5373C>G
c.11971C>G (p.Leu3991Val)
c.12001C>G (p.Leu4001Val)
19g.38543867C>TCA405663035RYR1c.414C>T
c.396C>T
c.12004C>T (p.Leu4002Phe)
c.11989C>T (p.Leu3997Phe)
c.11986C>T (p.Leu3996Phe)
c.613C>T
c.5373C>T
c.11971C>T (p.Leu3991Phe)
c.12001C>T (p.Leu4001Phe)
 gnomAD v4
19g.38543868T>ACA405663039RYR1c.415T>A
c.397T>A
c.12005T>A (p.Leu4002His)
c.11990T>A (p.Leu3997His)
c.11987T>A (p.Leu3996His)
c.614T>A
c.5374T>A
c.11972T>A (p.Leu3991His)
c.12002T>A (p.Leu4001His)
19g.38543868T>CCA405663041RYR1c.415T>C
c.397T>C
c.12005T>C (p.Leu4002Pro)
c.11990T>C (p.Leu3997Pro)
c.11987T>C (p.Leu3996Pro)
c.614T>C
c.5374T>C
c.11972T>C (p.Leu3991Pro)
c.12002T>C (p.Leu4001Pro)
19g.38543868T>GCA405663043RYR1c.415T>G
c.397T>G
c.12005T>G (p.Leu4002Arg)
c.11990T>G (p.Leu3997Arg)
c.11987T>G (p.Leu3996Arg)
c.614T>G
c.5374T>G
c.11972T>G (p.Leu3991Arg)
c.12002T>G (p.Leu4001Arg)
19g.38543869C>ACA507242722RYR1c.416C>A
c.398C>A
c.12006C>A (p.Leu4002=)
c.11991C>A (p.Leu3997=)
c.11988C>A (p.Leu3996=)
c.615C>A
c.5375C>A
c.11973C>A (p.Leu3991=)
c.12003C>A (p.Leu4001=)
19g.38543869C=CA2335074555RYR1c.416C=
c.398C=
c.12006C= (p.Leu4002=)
c.11991C= (p.Leu3997=)
c.11988C= (p.Leu3996=)
c.615C=
c.5375C=
c.11973C= (p.Leu3991=)
c.12003C= (p.Leu4001=)
19g.38543869C>GCA507242721RYR1c.416C>G
c.398C>G
c.12006C>G (p.Leu4002=)
c.11991C>G (p.Leu3997=)
c.11988C>G (p.Leu3996=)
c.615C>G
c.5375C>G
c.11973C>G (p.Leu3991=)
c.12003C>G (p.Leu4001=)
19g.38543869C>TCA308092423RYR1c.416C>T
c.398C>T
c.12006C>T (p.Leu4002=)
c.11991C>T (p.Leu3997=)
c.11988C>T (p.Leu3996=)
c.615C>T
c.5375C>T
c.11973C>T (p.Leu3991=)
c.12003C>T (p.Leu4001=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543870G>ACA405663045RYR1c.417G>A
c.399G>A
c.12007G>A (p.Ala4003Thr)
c.11992G>A (p.Ala3998Thr)
c.11989G>A (p.Ala3997Thr)
c.616G>A
c.5376G>A
c.11974G>A (p.Ala3992Thr)
c.12004G>A (p.Ala4002Thr)
 dbSNP
19g.38543870G>CCA405663046RYR1c.417G>C
c.399G>C
c.12007G>C (p.Ala4003Pro)
c.11992G>C (p.Ala3998Pro)
c.11989G>C (p.Ala3997Pro)
c.616G>C
c.5376G>C
c.11974G>C (p.Ala3992Pro)
c.12004G>C (p.Ala4002Pro)
19g.38543870G=CA2335074556RYR1c.417G=
c.399G=
c.12007G= (p.Ala4003=)
c.11992G= (p.Ala3998=)
c.11989G= (p.Ala3997=)
c.616G=
c.5376G=
c.11974G= (p.Ala3992=)
c.12004G= (p.Ala4002=)
19g.38543870G>TCA405663048RYR1c.417G>T
c.399G>T
c.12007G>T (p.Ala4003Ser)
c.11992G>T (p.Ala3998Ser)
c.11989G>T (p.Ala3997Ser)
c.616G>T
c.5376G>T
c.11974G>T (p.Ala3992Ser)
c.12004G>T (p.Ala4002Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543871C>ACA405663049RYR1c.418C>A
c.400C>A
c.12008C>A (p.Ala4003Asp)
c.11993C>A (p.Ala3998Asp)
c.11990C>A (p.Ala3997Asp)
c.617C>A
c.5377C>A
c.11975C>A (p.Ala3992Asp)
c.12005C>A (p.Ala4002Asp)
19g.38543871C>GCA405663050RYR1c.418C>G
c.400C>G
c.12008C>G (p.Ala4003Gly)
c.11993C>G (p.Ala3998Gly)
c.11990C>G (p.Ala3997Gly)
c.617C>G
c.5377C>G
c.11975C>G (p.Ala3992Gly)
c.12005C>G (p.Ala4002Gly)
19g.38543871C>TCA405663052RYR1c.418C>T
c.400C>T
c.12008C>T (p.Ala4003Val)
c.11993C>T (p.Ala3998Val)
c.11990C>T (p.Ala3997Val)
c.617C>T
c.5377C>T
c.11975C>T (p.Ala3992Val)
c.12005C>T (p.Ala4002Val)
 COSMIC
19g.38543872T>ACA507242723RYR1c.419T>A
c.401T>A
c.12009T>A (p.Ala4003=)
c.11994T>A (p.Ala3998=)
c.11991T>A (p.Ala3997=)
c.618T>A
c.5378T>A
c.11976T>A (p.Ala3992=)
c.12006T>A (p.Ala4002=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543872T>CCA507242725RYR1c.419T>C
c.401T>C
c.12009T>C (p.Ala4003=)
c.11994T>C (p.Ala3998=)
c.11991T>C (p.Ala3997=)
c.618T>C
c.5378T>C
c.11976T>C (p.Ala3992=)
c.12006T>C (p.Ala4002=)
19g.38543872T>GCA507242727RYR1c.419T>G
c.401T>G
c.12009T>G (p.Ala4003=)
c.11994T>G (p.Ala3998=)
c.11991T>G (p.Ala3997=)
c.618T>G
c.5378T>G
c.11976T>G (p.Ala3992=)
c.12006T>G (p.Ala4002=)
19g.38543872T=CA2335074557RYR1c.419T=
c.401T=
c.12009T= (p.Ala4003=)
c.11994T= (p.Ala3998=)
c.11991T= (p.Ala3997=)
c.618T=
c.5378T=
c.11976T= (p.Ala3992=)
c.12006T= (p.Ala4002=)
19g.38543873C>ACA405663054RYR1c.420C>A
c.402C>A
c.12010C>A (p.Gln4004Lys)
c.11995C>A (p.Gln3999Lys)
c.11992C>A (p.Gln3998Lys)
c.619C>A
c.5379C>A
c.11977C>A (p.Gln3993Lys)
c.12007C>A (p.Gln4003Lys)
19g.38543873C=CA2335074558RYR1c.420C=
c.402C=
c.12010C= (p.Gln4004=)
c.11995C= (p.Gln3999=)
c.11992C= (p.Gln3998=)
c.619C=
c.5379C=
c.11977C= (p.Gln3993=)
c.12007C= (p.Gln4003=)
19g.38543873C>GCA405663056RYR1c.420C>G
c.402C>G
c.12010C>G (p.Gln4004Glu)
c.11995C>G (p.Gln3999Glu)
c.11992C>G (p.Gln3998Glu)
c.619C>G
c.5379C>G
c.11977C>G (p.Gln3993Glu)
c.12007C>G (p.Gln4003Glu)
 ClinVar dbSNP gnomAD v4
19g.38543873C>TCA405663057RYR1c.420C>T
c.402C>T
c.12010C>T (p.Gln4004Ter)
c.11995C>T (p.Gln3999Ter)
c.11992C>T (p.Gln3998Ter)
c.619C>T
c.5379C>T
c.11977C>T (p.Gln3993Ter)
c.12007C>T (p.Gln4003Ter)
 ClinVar
19g.38543874A>CCA405663061RYR1c.421A>C
c.403A>C
c.12011A>C (p.Gln4004Pro)
c.11996A>C (p.Gln3999Pro)
c.11993A>C (p.Gln3998Pro)
c.620A>C
c.5380A>C
c.11978A>C (p.Gln3993Pro)
c.12008A>C (p.Gln4003Pro)
19g.38543874A>GCA405663063RYR1c.421A>G
c.403A>G
c.12011A>G (p.Gln4004Arg)
c.11996A>G (p.Gln3999Arg)
c.11993A>G (p.Gln3998Arg)
c.620A>G
c.5380A>G
c.11978A>G (p.Gln3993Arg)
c.12008A>G (p.Gln4003Arg)
19g.38543874A>TCA405663059RYR1c.421A>T
c.403A>T
c.12011A>T (p.Gln4004Leu)
c.11996A>T (p.Gln3999Leu)
c.11993A>T (p.Gln3998Leu)
c.620A>T
c.5380A>T
c.11978A>T (p.Gln3993Leu)
c.12008A>T (p.Gln4003Leu)
19g.38543875G>ACA507242730RYR1c.422G>A
c.404G>A
c.12012G>A (p.Gln4004=)
c.11997G>A (p.Gln3999=)
c.11994G>A (p.Gln3998=)
c.621G>A
c.5381G>A
c.11979G>A (p.Gln3993=)
c.12009G>A (p.Gln4003=)
 ClinVar dbSNP gnomAD v4
19g.38543875G>CCA405663064RYR1c.422G>C
c.404G>C
c.12012G>C (p.Gln4004His)
c.11997G>C (p.Gln3999His)
c.11994G>C (p.Gln3998His)
c.621G>C
c.5381G>C
c.11979G>C (p.Gln3993His)
c.12009G>C (p.Gln4003His)
19g.38543875G=CA2335074559RYR1c.422G=
c.404G=
c.12012G= (p.Gln4004=)
c.11997G= (p.Gln3999=)
c.11994G= (p.Gln3998=)
c.621G=
c.5381G=
c.11979G= (p.Gln3993=)
c.12009G= (p.Gln4003=)
19g.38543875G>TCA405663066RYR1c.422G>T
c.404G>T
c.12012G>T (p.Gln4004His)
c.11997G>T (p.Gln3999His)
c.11994G>T (p.Gln3998His)
c.621G>T
c.5381G>T
c.11979G>T (p.Gln3993His)
c.12009G>T (p.Gln4003His)
 dbSNP gnomAD v2
19g.38543876G>ACA405663068RYR1c.422+1G>A
c.404+1G>A
c.12012+1G>A (n.12012+1G>A)
c.11997+1G>A (n.11997+1G>A)
c.11994+1G>A (n.11994+1G>A)
c.621+1G>A
c.5381+1G>A
c.11979+1G>A (n.11979+1G>A)
c.12009+1G>A (n.12009+1G>A)
19g.38543876G>CCA405663069RYR1c.422+1G>C
c.404+1G>C
c.12012+1G>C (n.12012+1G>C)
c.11997+1G>C (n.11997+1G>C)
c.11994+1G>C (n.11994+1G>C)
c.621+1G>C
c.5381+1G>C
c.11979+1G>C (n.11979+1G>C)
c.12009+1G>C (n.12009+1G>C)
19g.38543876G>TCA405663071RYR1c.422+1G>T
c.404+1G>T
c.12012+1G>T (n.12012+1G>T)
c.11997+1G>T (n.11997+1G>T)
c.11994+1G>T (n.11994+1G>T)
c.621+1G>T
c.5381+1G>T
c.11979+1G>T (n.11979+1G>T)
c.12009+1G>T (n.12009+1G>T)
19g.38543877T>ACA308092431RYR1c.422+2T>A
c.404+2T>A
c.12012+2T>A (n.12012+2T>A)
c.11997+2T>A (n.11997+2T>A)
c.11994+2T>A (n.11994+2T>A)
c.621+2T>A
c.5381+2T>A
c.11979+2T>A (n.11979+2T>A)
c.12009+2T>A (n.12009+2T>A)
 dbSNP
19g.38543877T>CCA405663073RYR1c.422+2T>C
c.404+2T>C
c.12012+2T>C (n.12012+2T>C)
c.11997+2T>C (n.11997+2T>C)
c.11994+2T>C (n.11994+2T>C)
c.621+2T>C
c.5381+2T>C
c.11979+2T>C (n.11979+2T>C)
c.12009+2T>C (n.12009+2T>C)
19g.38543877T>GCA405663075RYR1c.422+2T>G
c.404+2T>G
c.12012+2T>G (n.12012+2T>G)
c.11997+2T>G (n.11997+2T>G)
c.11994+2T>G (n.11994+2T>G)
c.621+2T>G
c.5381+2T>G
c.11979+2T>G (n.11979+2T>G)
c.12009+2T>G (n.12009+2T>G)
19g.38543877T=CA2335074560RYR1c.422+2T=
c.404+2T=
c.12012+2T= (n.12012+2T=)
c.11997+2T= (n.11997+2T=)
c.11994+2T= (n.11994+2T=)
c.621+2T=
c.5381+2T=
c.11979+2T= (n.11979+2T=)
c.12009+2T= (n.12009+2T=)
19g.38543879C>ACA2584908144RYR1c.422+4C>A
c.404+4C>A
c.12012+4C>A (n.12012+4C>A)
c.11997+4C>A (n.11997+4C>A)
c.11994+4C>A (n.11994+4C>A)
c.621+4C>A
c.5381+4C>A
c.11979+4C>A (n.11979+4C>A)
c.12009+4C>A (n.12009+4C>A)
 gnomAD v4
19g.38543879C>TCA2584908143RYR1c.422+4C>T
c.404+4C>T
c.12012+4C>T (n.12012+4C>T)
c.11997+4C>T (n.11997+4C>T)
c.11994+4C>T (n.11994+4C>T)
c.621+4C>T
c.5381+4C>T
c.11979+4C>T (n.11979+4C>T)
c.12009+4C>T (n.12009+4C>T)
 gnomAD v4
19g.38543880G>CCA632869741RYR1c.422+5G>C
c.404+5G>C
c.12012+5G>C (n.12012+5G>C)
c.11997+5G>C (n.11997+5G>C)
c.11994+5G>C (n.11994+5G>C)
c.621+5G>C
c.5381+5G>C
c.11979+5G>C (n.11979+5G>C)
c.12009+5G>C (n.12009+5G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.38543880G=CA2335074561RYR1c.422+5G=
c.404+5G=
c.12012+5G= (n.12012+5G=)
c.11997+5G= (n.11997+5G=)
c.11994+5G= (n.11994+5G=)
c.621+5G=
c.5381+5G=
c.11979+5G= (n.11979+5G=)
c.12009+5G= (n.12009+5G=)
19g.38543882G>ACA058051RYR1c.422+7G>A
c.404+7G>A
c.12012+7G>A (n.12012+7G>A)
c.11997+7G>A (n.11997+7G>A)
c.11994+7G>A (n.11994+7G>A)
c.621+7G>A
c.5381+7G>A
c.11979+7G>A (n.11979+7G>A)
c.12009+7G>A (n.12009+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543882G=CA2335074562RYR1c.422+7G=
c.404+7G=
c.12012+7G= (n.12012+7G=)
c.11997+7G= (n.11997+7G=)
c.11994+7G= (n.11994+7G=)
c.621+7G=
c.5381+7G=
c.11979+7G= (n.11979+7G=)
c.12009+7G= (n.12009+7G=)
19g.38543882_38543891delCA2739276753RYR1c.422+7_422+16del
c.404+7_404+16del
c.12012+7_12012+16del (n.12012+7_12012+16del)
c.11997+7_11997+16del (n.11997+7_11997+16del)
c.11994+7_11994+16del (n.11994+7_11994+16del)
c.621+7_621+16del
c.5381+7_5381+16del
c.11979+7_11979+16del (n.11979+7_11979+16del)
c.12009+7_12009+16del (n.12009+7_12009+16del)
 ClinVar
19g.38543883C>TCA2584908145RYR1c.422+8C>T
c.404+8C>T
c.12012+8C>T (n.12012+8C>T)
c.11997+8C>T (n.11997+8C>T)
c.11994+8C>T (n.11994+8C>T)
c.621+8C>T
c.5381+8C>T
c.11979+8C>T (n.11979+8C>T)
c.12009+8C>T (n.12009+8C>T)
 gnomAD v4
19g.38543885C=CA2335074563RYR1c.422+10C=
c.404+10C=
c.12012+10C= (n.12012+10C=)
c.11997+10C= (n.11997+10C=)
c.11994+10C= (n.11994+10C=)
c.621+10C=
c.5381+10C=
c.11979+10C= (n.11979+10C=)
c.12009+10C= (n.12009+10C=)
19g.38543885C>TCA2335074564RYR1c.422+10C>T
c.404+10C>T
c.12012+10C>T (n.12012+10C>T)
c.11997+10C>T (n.11997+10C>T)
c.11994+10C>T (n.11994+10C>T)
c.621+10C>T
c.5381+10C>T
c.11979+10C>T (n.11979+10C>T)
c.12009+10C>T (n.12009+10C>T)
 dbSNP gnomAD v4
19g.38543886C>ACA057982RYR1c.422+11C>A
c.404+11C>A
c.12012+11C>A (n.12012+11C>A)
c.11997+11C>A (n.11997+11C>A)
c.11994+11C>A (n.11994+11C>A)
c.621+11C>A
c.5381+11C>A
c.11979+11C>A (n.11979+11C>A)
c.12009+11C>A (n.12009+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543886C=CA2335074565RYR1c.422+11C=
c.404+11C=
c.12012+11C= (n.12012+11C=)
c.11997+11C= (n.11997+11C=)
c.11994+11C= (n.11994+11C=)
c.621+11C=
c.5381+11C=
c.11979+11C= (n.11979+11C=)
c.12009+11C= (n.12009+11C=)
19g.38543886C>GCA2576804847RYR1c.422+11C>G
c.404+11C>G
c.12012+11C>G (n.12012+11C>G)
c.11997+11C>G (n.11997+11C>G)
c.11994+11C>G (n.11994+11C>G)
c.621+11C>G
c.5381+11C>G
c.11979+11C>G (n.11979+11C>G)
c.12009+11C>G (n.12009+11C>G)
 gnomAD v4
19g.38543886C>TCA057985RYR1c.422+11C>T
c.404+11C>T
c.12012+11C>T (n.12012+11C>T)
c.11997+11C>T (n.11997+11C>T)
c.11994+11C>T (n.11994+11C>T)
c.621+11C>T
c.5381+11C>T
c.11979+11C>T (n.11979+11C>T)
c.12009+11C>T (n.12009+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543887T>GCA2573156329RYR1c.422+12T>G
c.404+12T>G
c.12012+12T>G (n.12012+12T>G)
c.11997+12T>G (n.11997+12T>G)
c.11994+12T>G (n.11994+12T>G)
c.621+12T>G
c.5381+12T>G
c.11979+12T>G (n.11979+12T>G)
c.12009+12T>G (n.12009+12T>G)
 ClinVar dbSNP
19g.38543888C>ACA2573156331RYR1c.422+13C>A
c.404+13C>A
c.12012+13C>A (n.12012+13C>A)
c.11997+13C>A (n.11997+13C>A)
c.11994+13C>A (n.11994+13C>A)
c.621+13C>A
c.5381+13C>A
c.11979+13C>A (n.11979+13C>A)
c.12009+13C>A (n.12009+13C>A)
 ClinVar dbSNP
19g.38543888C=CA2335074566RYR1c.422+13C=
c.404+13C=
c.12012+13C= (n.12012+13C=)
c.11997+13C= (n.11997+13C=)
c.11994+13C= (n.11994+13C=)
c.621+13C=
c.5381+13C=
c.11979+13C= (n.11979+13C=)
c.12009+13C= (n.12009+13C=)
19g.38543888C>TCA882061006RYR1c.422+13C>T
c.404+13C>T
c.12012+13C>T (n.12012+13C>T)
c.11997+13C>T (n.11997+13C>T)
c.11994+13C>T (n.11994+13C>T)
c.621+13C>T
c.5381+13C>T
c.11979+13C>T (n.11979+13C>T)
c.12009+13C>T (n.12009+13C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543889T>GCA632869742RYR1c.422+14T>G
c.404+14T>G
c.12012+14T>G (n.12012+14T>G)
c.11997+14T>G (n.11997+14T>G)
c.11994+14T>G (n.11994+14T>G)
c.621+14T>G
c.5381+14T>G
c.11979+14T>G (n.11979+14T>G)
c.12009+14T>G (n.12009+14T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543889T=CA2335074567RYR1c.422+14T=
c.404+14T=
c.12012+14T= (n.12012+14T=)
c.11997+14T= (n.11997+14T=)
c.11994+14T= (n.11994+14T=)
c.621+14T=
c.5381+14T=
c.11979+14T= (n.11979+14T=)
c.12009+14T= (n.12009+14T=)
19g.38543890G>TCA2584908146RYR1c.422+15G>T
c.404+15G>T
c.12012+15G>T (n.12012+15G>T)
c.11997+15G>T (n.11997+15G>T)
c.11994+15G>T (n.11994+15G>T)
c.621+15G>T
c.5381+15G>T
c.11979+15G>T (n.11979+15G>T)
c.12009+15G>T (n.12009+15G>T)
 gnomAD v4
19g.38543891G>ACA995728870RYR1c.422+16G>A
c.404+16G>A
c.12012+16G>A (n.12012+16G>A)
c.11997+16G>A (n.11997+16G>A)
c.11994+16G>A (n.11994+16G>A)
c.621+16G>A
c.5381+16G>A
c.11979+16G>A (n.11979+16G>A)
c.12009+16G>A (n.12009+16G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.38543891G>CCA2740096890RYR1c.422+16G>C
c.404+16G>C
c.12012+16G>C (n.12012+16G>C)
c.11997+16G>C (n.11997+16G>C)
c.11994+16G>C (n.11994+16G>C)
c.621+16G>C
c.5381+16G>C
c.11979+16G>C (n.11979+16G>C)
c.12009+16G>C (n.12009+16G>C)
 ClinVar
19g.38543891G=CA2335074568RYR1c.422+16G=
c.404+16G=
c.12012+16G= (n.12012+16G=)
c.11997+16G= (n.11997+16G=)
c.11994+16G= (n.11994+16G=)
c.621+16G=
c.5381+16G=
c.11979+16G= (n.11979+16G=)
c.12009+16G= (n.12009+16G=)
19g.38543891G>TCA2584908147RYR1c.422+16G>T
c.404+16G>T
c.12012+16G>T (n.12012+16G>T)
c.11997+16G>T (n.11997+16G>T)
c.11994+16G>T (n.11994+16G>T)
c.621+16G>T
c.5381+16G>T
c.11979+16G>T (n.11979+16G>T)
c.12009+16G>T (n.12009+16G>T)
 gnomAD v4
19g.38543892T>ACA882061009RYR1c.422+17T>A
c.404+17T>A
c.12012+17T>A (n.12012+17T>A)
c.11997+17T>A (n.11997+17T>A)
c.11994+17T>A (n.11994+17T>A)
c.621+17T>A
c.5381+17T>A
c.11979+17T>A (n.11979+17T>A)
c.12009+17T>A (n.12009+17T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.38543892T>CCA308092467RYR1c.422+17T>C
c.404+17T>C
c.12012+17T>C (n.12012+17T>C)
c.11997+17T>C (n.11997+17T>C)
c.11994+17T>C (n.11994+17T>C)
c.621+17T>C
c.5381+17T>C
c.11979+17T>C (n.11979+17T>C)
c.12009+17T>C (n.12009+17T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543892T=CA2335074569RYR1c.422+17T=
c.404+17T=
c.12012+17T= (n.12012+17T=)
c.11997+17T= (n.11997+17T=)
c.11994+17T= (n.11994+17T=)
c.621+17T=
c.5381+17T=
c.11979+17T= (n.11979+17T=)
c.12009+17T= (n.12009+17T=)
19g.38543893C>ACA057992RYR1c.422+18C>A
c.404+18C>A
c.12012+18C>A (n.12012+18C>A)
c.11997+18C>A (n.11997+18C>A)
c.11994+18C>A (n.11994+18C>A)
c.621+18C>A
c.5381+18C>A
c.11979+18C>A (n.11979+18C>A)
c.12009+18C>A (n.12009+18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543893C=CA2335074570RYR1c.422+18C=
c.404+18C=
c.12012+18C= (n.12012+18C=)
c.11997+18C= (n.11997+18C=)
c.11994+18C= (n.11994+18C=)
c.621+18C=
c.5381+18C=
c.11979+18C= (n.11979+18C=)
c.12009+18C= (n.12009+18C=)
19g.38543893C>GCA2581382554RYR1c.422+18C>G
c.404+18C>G
c.12012+18C>G (n.12012+18C>G)
c.11997+18C>G (n.11997+18C>G)
c.11994+18C>G (n.11994+18C>G)
c.621+18C>G
c.5381+18C>G
c.11979+18C>G (n.11979+18C>G)
c.12009+18C>G (n.12009+18C>G)
19g.38543893C>TCA2581382555RYR1c.422+18C>T
c.404+18C>T
c.12012+18C>T (n.12012+18C>T)
c.11997+18C>T (n.11997+18C>T)
c.11994+18C>T (n.11994+18C>T)
c.621+18C>T
c.5381+18C>T
c.11979+18C>T (n.11979+18C>T)
c.12009+18C>T (n.12009+18C>T)
19g.38543894T>CCA057994RYR1c.422+19T>C
c.404+19T>C
c.12012+19T>C (n.12012+19T>C)
c.11997+19T>C (n.11997+19T>C)
c.11994+19T>C (n.11994+19T>C)
c.621+19T>C
c.5381+19T>C
c.11979+19T>C (n.11979+19T>C)
c.12009+19T>C (n.12009+19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543894T=CA2335074571RYR1c.422+19T=
c.404+19T=
c.12012+19T= (n.12012+19T=)
c.11997+19T= (n.11997+19T=)
c.11994+19T= (n.11994+19T=)
c.621+19T=
c.5381+19T=
c.11979+19T= (n.11979+19T=)
c.12009+19T= (n.12009+19T=)
19g.38543895C>ACA2584908148RYR1c.422+20C>A
c.404+20C>A
c.12012+20C>A (n.12012+20C>A)
c.11997+20C>A (n.11997+20C>A)
c.11994+20C>A (n.11994+20C>A)
c.621+20C>A
c.5381+20C>A
c.11979+20C>A (n.11979+20C>A)
c.12009+20C>A (n.12009+20C>A)
 gnomAD v4
19g.38543895C>TCA2814346272RYR1c.422+20C>T
c.404+20C>T
c.12012+20C>T (n.12012+20C>T)
c.11997+20C>T (n.11997+20C>T)
c.11994+20C>T (n.11994+20C>T)
c.621+20C>T
c.5381+20C>T
c.11979+20C>T (n.11979+20C>T)
c.12009+20C>T (n.12009+20C>T)
19g.38543896C=CA2335074572RYR1c.422+21C=
c.404+21C=
c.12012+21C= (n.12012+21C=)
c.11997+21C= (n.11997+21C=)
c.11994+21C= (n.11994+21C=)
c.621+21C=
c.5381+21C=
c.11979+21C= (n.11979+21C=)
c.12009+21C= (n.12009+21C=)
19g.38543896C>TCA995728871RYR1c.422+21C>T
c.404+21C>T
c.12012+21C>T (n.12012+21C>T)
c.11997+21C>T (n.11997+21C>T)
c.11994+21C>T (n.11994+21C>T)
c.621+21C>T
c.5381+21C>T
c.11979+21C>T (n.11979+21C>T)
c.12009+21C>T (n.12009+21C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543897A>GCA2584908149RYR1c.422+22A>G
c.404+22A>G
c.12012+22A>G (n.12012+22A>G)
c.11997+22A>G (n.11997+22A>G)
c.11994+22A>G (n.11994+22A>G)
c.621+22A>G
c.5381+22A>G
c.11979+22A>G (n.11979+22A>G)
c.12009+22A>G (n.12009+22A>G)
 gnomAD v4
19g.38543898T>CCA2584908150RYR1c.422+23T>C
c.404+23T>C
c.12012+23T>C (n.12012+23T>C)
c.11997+23T>C (n.11997+23T>C)
c.11994+23T>C (n.11994+23T>C)
c.621+23T>C
c.5381+23T>C
c.11979+23T>C (n.11979+23T>C)
c.12009+23T>C (n.12009+23T>C)
 gnomAD v4
19g.38543899C>ACA2584908151RYR1c.422+24C>A
c.404+24C>A
c.12012+24C>A (n.12012+24C>A)
c.11997+24C>A (n.11997+24C>A)
c.11994+24C>A (n.11994+24C>A)
c.621+24C>A
c.5381+24C>A
c.11979+24C>A (n.11979+24C>A)
c.12009+24C>A (n.12009+24C>A)
 gnomAD v4
19g.38543900C>TCA2584908152RYR1c.422+25C>T
c.404+25C>T
c.12012+25C>T (n.12012+25C>T)
c.11997+25C>T (n.11997+25C>T)
c.11994+25C>T (n.11994+25C>T)
c.621+25C>T
c.5381+25C>T
c.11979+25C>T (n.11979+25C>T)
c.12009+25C>T (n.12009+25C>T)
 gnomAD v4
19g.38543902C>ACA2584908153RYR1c.422+27C>A
c.404+27C>A
c.12012+27C>A (n.12012+27C>A)
c.11997+27C>A (n.11997+27C>A)
c.11994+27C>A (n.11994+27C>A)
c.621+27C>A
c.5381+27C>A
c.11979+27C>A (n.11979+27C>A)
c.12009+27C>A (n.12009+27C>A)
 gnomAD v4
19g.38543902C>GCA657534946RYR1c.422+27C>G
c.404+27C>G
c.12012+27C>G (n.12012+27C>G)
c.11997+27C>G (n.11997+27C>G)
c.11994+27C>G (n.11994+27C>G)
c.621+27C>G
c.5381+27C>G
c.11979+27C>G (n.11979+27C>G)
c.12009+27C>G (n.12009+27C>G)
 COSMIC
19g.38543902C>TCA2584908154RYR1c.422+27C>T
c.404+27C>T
c.12012+27C>T (n.12012+27C>T)
c.11997+27C>T (n.11997+27C>T)
c.11994+27C>T (n.11994+27C>T)
c.621+27C>T
c.5381+27C>T
c.11979+27C>T (n.11979+27C>T)
c.12009+27C>T (n.12009+27C>T)
 gnomAD v4
19g.38543903C>ACA2576804848RYR1c.422+28C>A
c.404+28C>A
c.12012+28C>A (n.12012+28C>A)
c.11997+28C>A (n.11997+28C>A)
c.11994+28C>A (n.11994+28C>A)
c.621+28C>A
c.5381+28C>A
c.11979+28C>A (n.11979+28C>A)
c.12009+28C>A (n.12009+28C>A)
 gnomAD v4
19g.38543903C=CA2335074573RYR1c.422+28C=
c.404+28C=
c.12012+28C= (n.12012+28C=)
c.11997+28C= (n.11997+28C=)
c.11994+28C= (n.11994+28C=)
c.621+28C=
c.5381+28C=
c.11979+28C= (n.11979+28C=)
c.12009+28C= (n.12009+28C=)
19g.38543903C>GCA632869743RYR1c.422+28C>G
c.404+28C>G
c.12012+28C>G (n.12012+28C>G)
c.11997+28C>G (n.11997+28C>G)
c.11994+28C>G (n.11994+28C>G)
c.621+28C>G
c.5381+28C>G
c.11979+28C>G (n.11979+28C>G)
c.12009+28C>G (n.12009+28C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.38543903C>TCA2576804849RYR1c.422+28C>T
c.404+28C>T
c.12012+28C>T (n.12012+28C>T)
c.11997+28C>T (n.11997+28C>T)
c.11994+28C>T (n.11994+28C>T)
c.621+28C>T
c.5381+28C>T
c.11979+28C>T (n.11979+28C>T)
c.12009+28C>T (n.12009+28C>T)
19g.38543904T>CCA2584908155RYR1c.422+29T>C
c.404+29T>C
c.12012+29T>C (n.12012+29T>C)
c.11997+29T>C (n.11997+29T>C)
c.11994+29T>C (n.11994+29T>C)
c.621+29T>C
c.5381+29T>C
c.11979+29T>C (n.11979+29T>C)
c.12009+29T>C (n.12009+29T>C)
 gnomAD v4
19g.38543909C>TCA2584908156RYR1c.422+34C>T
c.404+34C>T
c.12012+34C>T (n.12012+34C>T)
c.11997+34C>T (n.11997+34C>T)
c.11994+34C>T (n.11994+34C>T)
c.621+34C>T
c.5381+34C>T
c.11979+34C>T (n.11979+34C>T)
c.12009+34C>T (n.12009+34C>T)
 gnomAD v4
19g.38543910C>ACA2576804850RYR1c.422+35C>A
c.404+35C>A
c.12012+35C>A (n.12012+35C>A)
c.11997+35C>A (n.11997+35C>A)
c.11994+35C>A (n.11994+35C>A)
c.621+35C>A
c.5381+35C>A
c.11979+35C>A (n.11979+35C>A)
c.12009+35C>A (n.12009+35C>A)
 gnomAD v4
19g.38543910C=CA2335074574RYR1c.422+35C=
c.404+35C=
c.12012+35C= (n.12012+35C=)
c.11997+35C= (n.11997+35C=)
c.11994+35C= (n.11994+35C=)
c.621+35C=
c.5381+35C=
c.11979+35C= (n.11979+35C=)
c.12009+35C= (n.12009+35C=)
19g.38543910C>TCA058001RYR1c.422+35C>T
c.404+35C>T
c.12012+35C>T (n.12012+35C>T)
c.11997+35C>T (n.11997+35C>T)
c.11994+35C>T (n.11994+35C>T)
c.621+35C>T
c.5381+35C>T
c.11979+35C>T (n.11979+35C>T)
c.12009+35C>T (n.12009+35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543911G>ACA058009RYR1c.422+36G>A
c.404+36G>A
c.12012+36G>A (n.12012+36G>A)
c.11997+36G>A (n.11997+36G>A)
c.11994+36G>A (n.11994+36G>A)
c.621+36G>A
c.5381+36G>A
c.11979+36G>A (n.11979+36G>A)
c.12009+36G>A (n.12009+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543911G=CA2335074575RYR1c.422+36G=
c.404+36G=
c.12012+36G= (n.12012+36G=)
c.11997+36G= (n.11997+36G=)
c.11994+36G= (n.11994+36G=)
c.621+36G=
c.5381+36G=
c.11979+36G= (n.11979+36G=)
c.12009+36G= (n.12009+36G=)
19g.38543911G>TCA2584908157RYR1c.422+36G>T
c.404+36G>T
c.12012+36G>T (n.12012+36G>T)
c.11997+36G>T (n.11997+36G>T)
c.11994+36G>T (n.11994+36G>T)
c.621+36G>T
c.5381+36G>T
c.11979+36G>T (n.11979+36G>T)
c.12009+36G>T (n.12009+36G>T)
 gnomAD v4
19g.38543912G>ACA632869744RYR1c.422+37G>A
c.404+37G>A
c.12012+37G>A (n.12012+37G>A)
c.11997+37G>A (n.11997+37G>A)
c.11994+37G>A (n.11994+37G>A)
c.621+37G>A
c.5381+37G>A
c.11979+37G>A (n.11979+37G>A)
c.12009+37G>A (n.12009+37G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.38543912G=CA2335074576RYR1c.422+37G=
c.404+37G=
c.12012+37G= (n.12012+37G=)
c.11997+37G= (n.11997+37G=)
c.11994+37G= (n.11994+37G=)
c.621+37G=
c.5381+37G=
c.11979+37G= (n.11979+37G=)
c.12009+37G= (n.12009+37G=)
19g.38543912G>TCA2584908158RYR1c.422+37G>T
c.404+37G>T
c.12012+37G>T (n.12012+37G>T)
c.11997+37G>T (n.11997+37G>T)
c.11994+37G>T (n.11994+37G>T)
c.621+37G>T
c.5381+37G>T
c.11979+37G>T (n.11979+37G>T)
c.12009+37G>T (n.12009+37G>T)
 gnomAD v4
19g.38543913G>CCA2584908159RYR1c.422+38G>C
c.404+38G>C
c.12012+38G>C (n.12012+38G>C)
c.11997+38G>C (n.11997+38G>C)
c.11994+38G>C (n.11994+38G>C)
c.621+38G>C
c.5381+38G>C
c.11979+38G>C (n.11979+38G>C)
c.12009+38G>C (n.12009+38G>C)
 gnomAD v4
19g.38543913G>TCA2584908160RYR1c.422+38G>T
c.404+38G>T
c.12012+38G>T (n.12012+38G>T)
c.11997+38G>T (n.11997+38G>T)
c.11994+38G>T (n.11994+38G>T)
c.621+38G>T
c.5381+38G>T
c.11979+38G>T (n.11979+38G>T)
c.12009+38G>T (n.12009+38G>T)
 gnomAD v4
19g.38543914C>ACA2584908161RYR1c.422+39C>A
c.404+39C>A
c.12012+39C>A (n.12012+39C>A)
c.11997+39C>A (n.11997+39C>A)
c.11994+39C>A (n.11994+39C>A)
c.621+39C>A
c.5381+39C>A
c.11979+39C>A (n.11979+39C>A)
c.12009+39C>A (n.12009+39C>A)
 gnomAD v4
19g.38543914C=CA2335074577RYR1c.422+39C=
c.404+39C=
c.12012+39C= (n.12012+39C=)
c.11997+39C= (n.11997+39C=)
c.11994+39C= (n.11994+39C=)
c.621+39C=
c.5381+39C=
c.11979+39C= (n.11979+39C=)
c.12009+39C= (n.12009+39C=)
19g.38543914C>TCA058015RYR1c.422+39C>T
c.404+39C>T
c.12012+39C>T (n.12012+39C>T)
c.11997+39C>T (n.11997+39C>T)
c.11994+39C>T (n.11994+39C>T)
c.621+39C>T
c.5381+39C>T
c.11979+39C>T (n.11979+39C>T)
c.12009+39C>T (n.12009+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543915G>ACA058022RYR1c.422+40G>A
c.404+40G>A
c.12012+40G>A (n.12012+40G>A)
c.11997+40G>A (n.11997+40G>A)
c.11994+40G>A (n.11994+40G>A)
c.621+40G>A
c.5381+40G>A
c.11979+40G>A (n.11979+40G>A)
c.12009+40G>A (n.12009+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38543915G=CA2335074578RYR1c.422+40G=
c.404+40G=
c.12012+40G= (n.12012+40G=)
c.11997+40G= (n.11997+40G=)
c.11994+40G= (n.11994+40G=)
c.621+40G=
c.5381+40G=
c.11979+40G= (n.11979+40G=)
c.12009+40G= (n.12009+40G=)
19g.38543915G>TCA2584908162RYR1c.422+40G>T
c.404+40G>T
c.12012+40G>T (n.12012+40G>T)
c.11997+40G>T (n.11997+40G>T)
c.11994+40G>T (n.11994+40G>T)
c.621+40G>T
c.5381+40G>T
c.11979+40G>T (n.11979+40G>T)
c.12009+40G>T (n.12009+40G>T)
 gnomAD v4
19g.38543916T>CCA2576804851RYR1c.422+41T>C
c.404+41T>C
c.12012+41T>C (n.12012+41T>C)
c.11997+41T>C (n.11997+41T>C)
c.11994+41T>C (n.11994+41T>C)
c.621+41T>C
c.5381+41T>C
c.11979+41T>C (n.11979+41T>C)
c.12009+41T>C (n.12009+41T>C)

Number of alleles fetched