Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
19 | g.38543831G>A | CA080542 | RYR1 | c.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) | |
19 | g.38543831G>C | CA405662885 | RYR1 | c.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) | |
19 | g.38543831G>T | CA405662884 | RYR1 | c.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) | |
19 | g.38543832G>A | CA405662887 | RYR1 | c.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) | |
19 | g.38543832G>C | CA405662889 | RYR1 | c.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 |
19 | g.38543832G= | CA2335074542 | RYR1 | c.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=) | |
19 | g.38543832G>T | CA023953 | RYR1 | c.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 |
19 | g.38543833A>C | CA507242661 | RYR1 | c.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=) | |
19 | g.38543833A>G | CA507242659 | RYR1 | c.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=) | |
19 | g.38543833A>T | CA507242662 | RYR1 | c.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=) | |
19 | g.38543834T>A | CA405662891 | RYR1 | c.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) | |
19 | g.38543834T>C | CA405662893 | RYR1 | c.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 |
19 | g.38543834T>G | CA405662895 | RYR1 | c.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) | |
19 | g.38543834T= | CA2335074543 | RYR1 | c.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=) | |
19 | g.38543835T>A | CA405662897 | RYR1 | c.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) | |
19 | g.38543835T>C | CA405662898 | RYR1 | c.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 |
19 | g.38543835T>G | CA405662900 | RYR1 | c.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) | |
19 | g.38543836C>A | CA405662902 | RYR1 | c.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) | |
19 | g.38543836C>G | CA405662903 | RYR1 | c.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) | |
19 | g.38543836C>T | CA507242666 | RYR1 | c.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=) | |
19 | g.38543837C>A | CA405662905 | RYR1 | c.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) | |
19 | g.38543837C>G | CA405662904 | RYR1 | c.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) | |
19 | g.38543837C>T | CA507242670 | RYR1 | c.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 |
19 | g.38543838T>A | CA405662906 | RYR1 | c.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) | |
19 | g.38543838T>C | CA405662908 | RYR1 | c.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) | |
19 | g.38543838T>G | CA405662910 | RYR1 | c.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) | |
19 | g.38543839G>A | CA507242671 | RYR1 | c.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 |
19 | g.38543839G>C | CA507242672 | RYR1 | c.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=) | |
19 | g.38543839G>T | CA507242673 | RYR1 | c.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=) | |
19 | g.38543840C>A | CA405662912 | RYR1 | c.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) | |
19 | g.38543840C>G | CA405662913 | RYR1 | c.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) | |
19 | g.38543840C>T | CA405662915 | RYR1 | c.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) | |
19 | g.38543841A>C | CA405662917 | RYR1 | c.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) | |
19 | g.38543841A>G | CA405662919 | RYR1 | c.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) | |
19 | g.38543841A>T | CA405662920 | RYR1 | c.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) | |
19 | g.38543842C>A | CA405662921 | RYR1 | c.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 |
19 | g.38543842C= | CA2335074544 | RYR1 | c.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=) | |
19 | g.38543842C>G | CA405662923 | RYR1 | c.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) | |
19 | g.38543842C>T | CA507242677 | RYR1 | c.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 |
19 | g.38543843G>A | CA405662927 | RYR1 | c.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 |
19 | g.38543843G>C | CA405662928 | RYR1 | c.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) | |
19 | g.38543843G= | CA2335074545 | RYR1 | c.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=) | |
19 | g.38543843G>T | CA405662925 | RYR1 | c.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) | |
19 | g.38543844T>A | CA405662930 | RYR1 | c.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) | |
19 | g.38543844T>C | CA405662932 | RYR1 | c.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 |
19 | g.38543844T>G | CA405662934 | RYR1 | c.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) | |
19 | g.38543844T= | CA2335074546 | RYR1 | c.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=) | |
19 | g.38543845G>A | CA507242684 | RYR1 | c.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 |
19 | g.38543845G>C | CA507242685 | RYR1 | c.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=) | |
19 | g.38543845G>T | CA507242686 | RYR1 | c.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=) | |
19 | g.38543846T>A | CA405662936 | RYR1 | c.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) | |
19 | g.38543846T>C | CA405662938 | RYR1 | c.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) | |
19 | g.38543846T>G | CA405662940 | RYR1 | c.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) | |
19 | g.38543847T>A | CA405662945 | RYR1 | c.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) | |
19 | g.38543847T>C | CA405662942 | RYR1 | c.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) | |
19 | g.38543847T>G | CA405662943 | RYR1 | c.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) | |
19 | g.38543848C>A | CA405662948 | RYR1 | c.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 |
19 | g.38543848C= | CA2335074547 | RYR1 | c.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=) | |
19 | g.38543848C>G | CA057962 | RYR1 | c.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 |
19 | g.38543848C>T | CA16608147 | RYR1 | c.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 |
19 | g.38543849G>A | CA405662951 | RYR1 | c.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 |
19 | g.38543849G>C | CA405662952 | RYR1 | c.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) | |
19 | g.38543849G= | CA2335074548 | RYR1 | c.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=) | |
19 | g.38543849G>T | CA405662954 | RYR1 | c.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 |
19 | g.38543850C>A | CA405662956 | RYR1 | c.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) | |
19 | g.38543850C= | CA2335074549 | RYR1 | c.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=) | |
19 | g.38543850C>G | CA405662962 | RYR1 | c.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) | |
19 | g.38543850C>T | CA405662960 | RYR1 | c.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 |
19 | g.38543851C>A | CA507242699 | RYR1 | c.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 |
19 | g.38543851C>G | CA080543 | RYR1 | c.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=) | |
19 | g.38543851C>T | CA507242700 | RYR1 | c.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 |
19 | g.38543852C>A | CA405662964 | RYR1 | c.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) | |
19 | g.38543852C= | CA2335074550 | RYR1 | c.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=) | |
19 | g.38543852C>G | CA405662966 | RYR1 | c.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) | |
19 | g.38543852C>T | CA405662967 | RYR1 | c.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 |
19 | g.38543853A>C | CA405662970 | RYR1 | c.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) | |
19 | g.38543853A>G | CA405662971 | RYR1 | c.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 |
19 | g.38543853A>T | CA405662973 | RYR1 | c.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) | |
19 | g.38543854C>A | CA405662975 | RYR1 | c.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) | |
19 | g.38543854C>G | CA405662977 | RYR1 | c.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) | |
19 | g.38543854C>T | CA507242704 | RYR1 | c.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=) | |
19 | g.38543855A= | CA2335074551 | RYR1 | c.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=) | |
19 | g.38543855A>C | CA405662979 | RYR1 | c.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) | |
19 | g.38543855A>G | CA405662981 | RYR1 | c.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 |
19 | g.38543855A>T | CA405662982 | RYR1 | c.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) | |
19 | g.38543855dup | CA2740096889 | RYR1 | c.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 |
19 | g.38543862_38543864del | CA2580613115 | RYR1 | c.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 |
19 | g.38543856T>A | CA405662988 | RYR1 | c.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) | |
19 | g.38543856T>C | CA405662986 | RYR1 | c.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) | |
19 | g.38543856T>G | CA405662984 | RYR1 | c.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 |
19 | g.38543857G>A | CA405662989 | RYR1 | c.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) | |
19 | g.38543857G>C | CA405662993 | RYR1 | c.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) | |
19 | g.38543857G>T | CA405662991 | RYR1 | c.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) | |
19 | g.38543858A>C | CA405662995 | RYR1 | c.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) | |
19 | g.38543858A>G | CA405662996 | RYR1 | c.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) | |
19 | g.38543858A>T | CA405662997 | RYR1 | c.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) | |
19 | g.38543859T>A | CA405662999 | RYR1 | c.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) | |
19 | g.38543859T>C | CA405663001 | RYR1 | c.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) | |
19 | g.38543859T>G | CA405663003 | RYR1 | c.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) | |
19 | g.38543860G>A | CA405663005 | RYR1 | c.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 |
19 | g.38543860G>C | CA405663007 | RYR1 | c.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) | |
19 | g.38543860G>T | CA405663008 | RYR1 | c.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) | |
19 | g.38543861A= | CA2335074552 | RYR1 | c.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=) | |
19 | g.38543861A>C | CA405663009 | RYR1 | c.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) | |
19 | g.38543861A>G | CA057977 | RYR1 | c.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 |
19 | g.38543861A>T | CA405663011 | RYR1 | c.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) | |
19 | g.38543862T>A | CA405663015 | RYR1 | c.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) | |
19 | g.38543862T>C | CA405663013 | RYR1 | c.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) | |
19 | g.38543862T>G | CA405663014 | RYR1 | c.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) | |
19 | g.38543863G>A | CA405663017 | RYR1 | c.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 |
19 | g.38543863G>C | CA405663018 | RYR1 | c.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) | |
19 | g.38543863G= | CA2335074553 | RYR1 | c.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=) | |
19 | g.38543863G>T | CA405663020 | RYR1 | c.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) | |
19 | g.38543864A>C | CA405663022 | RYR1 | c.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) | |
19 | g.38543864A>G | CA080544 | RYR1 | c.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) | |
19 | g.38543864A>T | CA405663024 | RYR1 | c.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) | |
19 | g.38543865A= | CA2335074554 | RYR1 | c.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=) | |
19 | g.38543865A>C | CA405663026 | RYR1 | c.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) | |
19 | g.38543865A>G | CA405663028 | RYR1 | c.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 |
19 | g.38543865A>T | CA405663030 | RYR1 | c.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) | |
19 | g.38543866G>A | CA507242718 | RYR1 | c.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=) | |
19 | g.38543866G>C | CA405663032 | RYR1 | c.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) | |
19 | g.38543866G>T | CA405663033 | RYR1 | c.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) | |
19 | g.38543867C>A | CA405663037 | RYR1 | c.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) | |
19 | g.38543867C>G | CA405663036 | RYR1 | c.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) | |
19 | g.38543867C>T | CA405663035 | RYR1 | c.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 |
19 | g.38543868T>A | CA405663039 | RYR1 | c.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) | |
19 | g.38543868T>C | CA405663041 | RYR1 | c.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) | |
19 | g.38543868T>G | CA405663043 | RYR1 | c.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) | |
19 | g.38543869C>A | CA507242722 | RYR1 | c.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=) | |
19 | g.38543869C= | CA2335074555 | RYR1 | c.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=) | |
19 | g.38543869C>G | CA507242721 | RYR1 | c.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=) | |
19 | g.38543869C>T | CA308092423 | RYR1 | c.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 |
19 | g.38543870G>A | CA405663045 | RYR1 | c.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 |
19 | g.38543870G>C | CA405663046 | RYR1 | c.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) | |
19 | g.38543870G= | CA2335074556 | RYR1 | c.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=) | |
19 | g.38543870G>T | CA405663048 | RYR1 | c.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 |
19 | g.38543871C>A | CA405663049 | RYR1 | c.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) | |
19 | g.38543871C>G | CA405663050 | RYR1 | c.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) | |
19 | g.38543871C>T | CA405663052 | RYR1 | c.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 |
19 | g.38543872T>A | CA507242723 | RYR1 | c.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 |
19 | g.38543872T>C | CA507242725 | RYR1 | c.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=) | |
19 | g.38543872T>G | CA507242727 | RYR1 | c.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=) | |
19 | g.38543872T= | CA2335074557 | RYR1 | c.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=) | |
19 | g.38543873C>A | CA405663054 | RYR1 | c.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) | |
19 | g.38543873C= | CA2335074558 | RYR1 | c.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=) | |
19 | g.38543873C>G | CA405663056 | RYR1 | c.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 |
19 | g.38543873C>T | CA405663057 | RYR1 | c.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 |
19 | g.38543874A>C | CA405663061 | RYR1 | c.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) | |
19 | g.38543874A>G | CA405663063 | RYR1 | c.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) | |
19 | g.38543874A>T | CA405663059 | RYR1 | c.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) | |
19 | g.38543875G>A | CA507242730 | RYR1 | c.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 |
19 | g.38543875G>C | CA405663064 | RYR1 | c.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) | |
19 | g.38543875G= | CA2335074559 | RYR1 | c.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=) | |
19 | g.38543875G>T | CA405663066 | RYR1 | c.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 |
19 | g.38543876G>A | CA405663068 | RYR1 | c.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) | |
19 | g.38543876G>C | CA405663069 | RYR1 | c.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) | |
19 | g.38543876G>T | CA405663071 | RYR1 | c.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) | |
19 | g.38543877T>A | CA308092431 | RYR1 | c.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 |
19 | g.38543877T>C | CA405663073 | RYR1 | c.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) | |
19 | g.38543877T>G | CA405663075 | RYR1 | c.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) | |
19 | g.38543877T= | CA2335074560 | RYR1 | c.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=) | |
19 | g.38543879C>A | CA2584908144 | RYR1 | c.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 |
19 | g.38543879C>T | CA2584908143 | RYR1 | c.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 |
19 | g.38543880G>C | CA632869741 | RYR1 | c.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 |
19 | g.38543880G= | CA2335074561 | RYR1 | c.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=) | |
19 | g.38543882G>A | CA058051 | RYR1 | c.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 |
19 | g.38543882G= | CA2335074562 | RYR1 | c.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=) | |
19 | g.38543882_38543891del | CA2739276753 | RYR1 | c.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 |
19 | g.38543883C>T | CA2584908145 | RYR1 | c.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 |
19 | g.38543885C= | CA2335074563 | RYR1 | c.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=) | |
19 | g.38543885C>T | CA2335074564 | RYR1 | c.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 |
19 | g.38543886C>A | CA057982 | RYR1 | c.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 |
19 | g.38543886C= | CA2335074565 | RYR1 | c.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=) | |
19 | g.38543886C>G | CA2576804847 | RYR1 | c.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 |
19 | g.38543886C>T | CA057985 | RYR1 | c.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 |
19 | g.38543887T>G | CA2573156329 | RYR1 | c.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 |
19 | g.38543888C>A | CA2573156331 | RYR1 | c.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 |
19 | g.38543888C= | CA2335074566 | RYR1 | c.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=) | |
19 | g.38543888C>T | CA882061006 | RYR1 | c.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 |
19 | g.38543889T>G | CA632869742 | RYR1 | c.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 |
19 | g.38543889T= | CA2335074567 | RYR1 | c.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=) | |
19 | g.38543890G>T | CA2584908146 | RYR1 | c.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 |
19 | g.38543891G>A | CA995728870 | RYR1 | c.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 |
19 | g.38543891G>C | CA2740096890 | RYR1 | c.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 |
19 | g.38543891G= | CA2335074568 | RYR1 | c.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=) | |
19 | g.38543891G>T | CA2584908147 | RYR1 | c.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 |
19 | g.38543892T>A | CA882061009 | RYR1 | c.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 |
19 | g.38543892T>C | CA308092467 | RYR1 | c.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 |
19 | g.38543892T= | CA2335074569 | RYR1 | c.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=) | |
19 | g.38543893C>A | CA057992 | RYR1 | c.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 |
19 | g.38543893C= | CA2335074570 | RYR1 | c.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=) | |
19 | g.38543893C>G | CA2581382554 | RYR1 | c.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) | |
19 | g.38543893C>T | CA2581382555 | RYR1 | c.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) | |
19 | g.38543894T>C | CA057994 | RYR1 | c.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 |
19 | g.38543894T= | CA2335074571 | RYR1 | c.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=) | |
19 | g.38543895C>A | CA2584908148 | RYR1 | c.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 |
19 | g.38543895C>T | CA2814346272 | RYR1 | c.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) | |
19 | g.38543896C= | CA2335074572 | RYR1 | c.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=) | |
19 | g.38543896C>T | CA995728871 | RYR1 | c.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 |
19 | g.38543897A>G | CA2584908149 | RYR1 | c.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 |
19 | g.38543898T>C | CA2584908150 | RYR1 | c.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 |
19 | g.38543899C>A | CA2584908151 | RYR1 | c.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 |
19 | g.38543900C>T | CA2584908152 | RYR1 | c.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 |
19 | g.38543902C>A | CA2584908153 | RYR1 | c.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 |
19 | g.38543902C>G | CA657534946 | RYR1 | c.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 |
19 | g.38543902C>T | CA2584908154 | RYR1 | c.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 |
19 | g.38543903C>A | CA2576804848 | RYR1 | c.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 |
19 | g.38543903C= | CA2335074573 | RYR1 | c.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=) | |
19 | g.38543903C>G | CA632869743 | RYR1 | c.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 |
19 | g.38543903C>T | CA2576804849 | RYR1 | c.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) | |
19 | g.38543904T>C | CA2584908155 | RYR1 | c.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 |
19 | g.38543909C>T | CA2584908156 | RYR1 | c.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 |
19 | g.38543910C>A | CA2576804850 | RYR1 | c.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 |
19 | g.38543910C= | CA2335074574 | RYR1 | c.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=) | |
19 | g.38543910C>T | CA058001 | RYR1 | c.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 |
19 | g.38543911G>A | CA058009 | RYR1 | c.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 |
19 | g.38543911G= | CA2335074575 | RYR1 | c.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=) | |
19 | g.38543911G>T | CA2584908157 | RYR1 | c.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 |
19 | g.38543912G>A | CA632869744 | RYR1 | c.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 |
19 | g.38543912G= | CA2335074576 | RYR1 | c.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=) | |
19 | g.38543912G>T | CA2584908158 | RYR1 | c.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 |
19 | g.38543913G>C | CA2584908159 | RYR1 | c.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 |
19 | g.38543913G>T | CA2584908160 | RYR1 | c.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 |
19 | g.38543914C>A | CA2584908161 | RYR1 | c.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 |
19 | g.38543914C= | CA2335074577 | RYR1 | c.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=) | |
19 | g.38543914C>T | CA058015 | RYR1 | c.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 |
19 | g.38543915G>A | CA058022 | RYR1 | c.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 |
19 | g.38543915G= | CA2335074578 | RYR1 | c.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=) | |
19 | g.38543915G>T | CA2584908162 | RYR1 | c.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 |
19 | g.38543916T>C | CA2576804851 | RYR1 | c.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) | |
19 | g.38543917C>A | CA882061036 | RYR1 | c.422+42C>A c.404+42C>A c.12012+42C>A (n.12012+42C>A) c.11997+42C>A (n.11997+42C>A) c.11994+42C>A (n.11994+42C>A) c.621+42C>A c.5381+42C>A c.11979+42C>A (n.11979+42C>A) c.12009+42C>A (n.12009+42C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543917C= | CA2335074579 | RYR1 | c.422+42C= c.404+42C= c.12012+42C= (n.12012+42C=) c.11997+42C= (n.11997+42C=) c.11994+42C= (n.11994+42C=) c.621+42C= c.5381+42C= c.11979+42C= (n.11979+42C=) c.12009+42C= (n.12009+42C=) | |
19 | g.38543917C>T | CA632869745 | RYR1 | c.422+42C>T c.404+42C>T c.12012+42C>T (n.12012+42C>T) c.11997+42C>T (n.11997+42C>T) c.11994+42C>T (n.11994+42C>T) c.621+42C>T c.5381+42C>T c.11979+42C>T (n.11979+42C>T) c.12009+42C>T (n.12009+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543921dup | CA2584908163 | RYR1 | c.422+46dup c.404+46dup c.12012+46dup (n.12012+46dup) c.11997+46dup (n.11997+46dup) c.11994+46dup (n.11994+46dup) c.621+46dup c.5381+46dup c.11979+46dup (n.11979+46dup) c.12009+46dup (n.12009+46dup) | gnomAD v4 |
19 | g.38543921del | CA2576804852 | RYR1 | c.422+46del c.404+46del c.12012+46del (n.12012+46del) c.11997+46del (n.11997+46del) c.11994+46del (n.11994+46del) c.621+46del c.5381+46del c.11979+46del (n.11979+46del) c.12009+46del (n.12009+46del) | gnomAD v4 |
19 | g.38543918C>A | CA2576804853 | RYR1 | c.422+43C>A c.404+43C>A c.12012+43C>A (n.12012+43C>A) c.11997+43C>A (n.11997+43C>A) c.11994+43C>A (n.11994+43C>A) c.621+43C>A c.5381+43C>A c.11979+43C>A (n.11979+43C>A) c.12009+43C>A (n.12009+43C>A) | gnomAD v4 |
19 | g.38543918C>T | CA2584908164 | RYR1 | c.422+43C>T c.404+43C>T c.12012+43C>T (n.12012+43C>T) c.11997+43C>T (n.11997+43C>T) c.11994+43C>T (n.11994+43C>T) c.621+43C>T c.5381+43C>T c.11979+43C>T (n.11979+43C>T) c.12009+43C>T (n.12009+43C>T) | gnomAD v4 |
19 | g.38543919C>A | CA2584908165 | RYR1 | c.422+44C>A c.404+44C>A c.12012+44C>A (n.12012+44C>A) c.11997+44C>A (n.11997+44C>A) c.11994+44C>A (n.11994+44C>A) c.621+44C>A c.5381+44C>A c.11979+44C>A (n.11979+44C>A) c.12009+44C>A (n.12009+44C>A) | gnomAD v4 |
19 | g.38543920C>A | CA058028 | RYR1 | c.422+45C>A c.404+45C>A c.12012+45C>A (n.12012+45C>A) c.11997+45C>A (n.11997+45C>A) c.11994+45C>A (n.11994+45C>A) c.621+45C>A c.5381+45C>A c.11979+45C>A (n.11979+45C>A) c.12009+45C>A (n.12009+45C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543920C= | CA2335074580 | RYR1 | c.422+45C= c.404+45C= c.12012+45C= (n.12012+45C=) c.11997+45C= (n.11997+45C=) c.11994+45C= (n.11994+45C=) c.621+45C= c.5381+45C= c.11979+45C= (n.11979+45C=) c.12009+45C= (n.12009+45C=) | |
19 | g.38543920C>G | CA058030 | RYR1 | c.422+45C>G c.404+45C>G c.12012+45C>G (n.12012+45C>G) c.11997+45C>G (n.11997+45C>G) c.11994+45C>G (n.11994+45C>G) c.621+45C>G c.5381+45C>G c.11979+45C>G (n.11979+45C>G) c.12009+45C>G (n.12009+45C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543920C>T | CA058035 | RYR1 | c.422+45C>T c.404+45C>T c.12012+45C>T (n.12012+45C>T) c.11997+45C>T (n.11997+45C>T) c.11994+45C>T (n.11994+45C>T) c.621+45C>T c.5381+45C>T c.11979+45C>T (n.11979+45C>T) c.12009+45C>T (n.12009+45C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543921C>A | CA2576804854 | RYR1 | c.422+46C>A c.404+46C>A c.12012+46C>A (n.12012+46C>A) c.11997+46C>A (n.11997+46C>A) c.11994+46C>A (n.11994+46C>A) c.621+46C>A c.5381+46C>A c.11979+46C>A (n.11979+46C>A) c.12009+46C>A (n.12009+46C>A) | gnomAD v4 |
19 | g.38543922A>G | CA2582145632 | RYR1 | c.422+47A>G c.404+47A>G c.12012+47A>G (n.12012+47A>G) c.11997+47A>G (n.11997+47A>G) c.11994+47A>G (n.11994+47A>G) c.621+47A>G c.5381+47A>G c.11979+47A>G (n.11979+47A>G) c.12009+47A>G (n.12009+47A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543923A= | CA2335074581 | RYR1 | c.422+48A= c.404+48A= c.12012+48A= (n.12012+48A=) c.11997+48A= (n.11997+48A=) c.11994+48A= (n.11994+48A=) c.621+48A= c.5381+48A= c.11979+48A= (n.11979+48A=) c.12009+48A= (n.12009+48A=) | |
19 | g.38543923A>C | CA2584908166 | RYR1 | c.422+48A>C c.404+48A>C c.12012+48A>C (n.12012+48A>C) c.11997+48A>C (n.11997+48A>C) c.11994+48A>C (n.11994+48A>C) c.621+48A>C c.5381+48A>C c.11979+48A>C (n.11979+48A>C) c.12009+48A>C (n.12009+48A>C) | gnomAD v4 |
19 | g.38543923A>G | CA058040 | RYR1 | c.422+48A>G c.404+48A>G c.12012+48A>G (n.12012+48A>G) c.11997+48A>G (n.11997+48A>G) c.11994+48A>G (n.11994+48A>G) c.621+48A>G c.5381+48A>G c.11979+48A>G (n.11979+48A>G) c.12009+48A>G (n.12009+48A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543924G>A | CA2576804855 | RYR1 | c.422+49G>A c.404+49G>A c.12012+49G>A (n.12012+49G>A) c.11997+49G>A (n.11997+49G>A) c.11994+49G>A (n.11994+49G>A) c.621+49G>A c.5381+49G>A c.11979+49G>A (n.11979+49G>A) c.12009+49G>A (n.12009+49G>A) | gnomAD v4 |
19 | g.38543924G>T | CA2584908167 | RYR1 | c.422+49G>T c.404+49G>T c.12012+49G>T (n.12012+49G>T) c.11997+49G>T (n.11997+49G>T) c.11994+49G>T (n.11994+49G>T) c.621+49G>T c.5381+49G>T c.11979+49G>T (n.11979+49G>T) c.12009+49G>T (n.12009+49G>T) | gnomAD v4 |
19 | g.38543926G>T | CA2584908168 | RYR1 | c.422+51G>T c.404+51G>T c.12012+51G>T (n.12012+51G>T) c.11997+51G>T (n.11997+51G>T) c.11994+51G>T (n.11994+51G>T) c.621+51G>T c.5381+51G>T c.11979+51G>T (n.11979+51G>T) c.12009+51G>T (n.12009+51G>T) | gnomAD v4 |
19 | g.38543927G>A | CA2814346278 | RYR1 | c.422+52G>A c.404+52G>A c.12012+52G>A (n.12012+52G>A) c.11997+52G>A (n.11997+52G>A) c.11994+52G>A (n.11994+52G>A) c.621+52G>A c.5381+52G>A c.11979+52G>A (n.11979+52G>A) c.12009+52G>A (n.12009+52G>A) | |
19 | g.38543927G>C | CA308092505 | RYR1 | c.422+52G>C c.404+52G>C c.12012+52G>C (n.12012+52G>C) c.11997+52G>C (n.11997+52G>C) c.11994+52G>C (n.11994+52G>C) c.621+52G>C c.5381+52G>C c.11979+52G>C (n.11979+52G>C) c.12009+52G>C (n.12009+52G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543927G= | CA2335074582 | RYR1 | c.422+52G= c.404+52G= c.12012+52G= (n.12012+52G=) c.11997+52G= (n.11997+52G=) c.11994+52G= (n.11994+52G=) c.621+52G= c.5381+52G= c.11979+52G= (n.11979+52G=) c.12009+52G= (n.12009+52G=) | |
19 | g.38543927G>T | CA2584908169 | RYR1 | c.422+52G>T c.404+52G>T c.12012+52G>T (n.12012+52G>T) c.11997+52G>T (n.11997+52G>T) c.11994+52G>T (n.11994+52G>T) c.621+52G>T c.5381+52G>T c.11979+52G>T (n.11979+52G>T) c.12009+52G>T (n.12009+52G>T) | gnomAD v4 |