| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543816T>A | CA405662852 | RYR1 | c.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) | |
| 19 | g.38543816T>C | CA023949 | RYR1 | c.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 |
| 19 | g.38543816T>G | CA405662851 | RYR1 | c.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) | |
| 19 | g.38543816T= | CA2335074538 | RYR1 | c.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=) | |
| 19 | g.38543817G>A | CA405662853 | RYR1 | c.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 |
| 19 | g.38543817G>C | CA405662854 | RYR1 | c.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) | |
| 19 | g.38543817G>T | CA405662855 | RYR1 | c.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) | |
| 19 | g.38543819del | CA2739276752 | RYR1 | c.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 |
| 19 | g.38543818G>A | CA405662856 | RYR1 | c.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) | |
| 19 | g.38543818G>C | CA405662857 | RYR1 | c.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 |
| 19 | g.38543818G= | CA2335074539 | RYR1 | c.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=) | |
| 19 | g.38543818G>T | CA405662858 | RYR1 | c.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) | |
| 19 | g.38543819G>A | CA405662859 | RYR1 | c.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) | |
| 19 | g.38543819G>C | CA080497 | RYR1 | c.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) | |
| 19 | g.38543819G>T | CA405662860 | RYR1 | c.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) | |
| 19 | g.38543820A>C | CA405662861 | RYR1 | c.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) | |
| 19 | g.38543820A>G | CA405662862 | RYR1 | c.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) | |
| 19 | g.38543820A>T | CA405662863 | RYR1 | c.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) | |
| 19 | g.38543821C>A | CA405662864 | RYR1 | c.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) | |
| 19 | g.38543821C= | CA2335074540 | RYR1 | c.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=) | |
| 19 | g.38543821C>G | CA023951 | RYR1 | c.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 |
| 19 | g.38543821C>T | CA507242642 | RYR1 | c.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 |
| 19 | g.38543822G>A | CA405662865 | RYR1 | c.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) | |
| 19 | g.38543822G>C | CA405662866 | RYR1 | c.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) | |
| 19 | g.38543822G>T | CA405662867 | RYR1 | c.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) | |
| 19 | g.38543823C>A | CA405662868 | RYR1 | c.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) | |
| 19 | g.38543823C>G | CA405662869 | RYR1 | c.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) | |
| 19 | g.38543823C>T | CA080502 | RYR1 | c.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) | |
| 19 | g.38543824A>C | CA507242643 | RYR1 | c.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 |
| 19 | g.38543824A>G | CA507242644 | RYR1 | c.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=) | |
| 19 | g.38543824A>T | CA507242645 | RYR1 | c.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=) | |
| 19 | g.38543825G>A | CA405662870 | RYR1 | c.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) | |
| 19 | g.38543825G>C | CA405662871 | RYR1 | c.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) | |
| 19 | g.38543825G>T | CA405662872 | RYR1 | c.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) | |
| 19 | g.38543826T>A | CA405662873 | RYR1 | c.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) | |
| 19 | g.38543826T>C | CA405662874 | RYR1 | c.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) | |
| 19 | g.38543826T>G | CA405662875 | RYR1 | c.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) | |
| 19 | g.38543827G>A | CA507242651 | RYR1 | c.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=) | |
| 19 | g.38543827G>C | CA507242649 | RYR1 | c.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=) | |
| 19 | g.38543827G>T | CA507242650 | RYR1 | c.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=) | |
| 19 | g.38543828G>A | CA057954 | RYR1 | c.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 |
| 19 | g.38543828G>C | CA405662877 | RYR1 | c.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) | |
| 19 | g.38543828G= | CA2335074541 | RYR1 | c.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=) | |
| 19 | g.38543828G>T | CA405662876 | RYR1 | c.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) | |
| 19 | g.38543829T>A | CA405662878 | RYR1 | c.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) | |
| 19 | g.38543829T>C | CA405662881 | RYR1 | c.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) | |
| 19 | g.38543829T>G | CA405662879 | RYR1 | c.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) | |
| 19 | g.38543830G>A | CA507242653 | RYR1 | c.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=) | |
| 19 | g.38543830G>C | CA507242654 | RYR1 | c.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=) | |
| 19 | g.38543830G>T | CA507242655 | RYR1 | c.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=) |