| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543585G>A | CA507355053 | RYR1 | c.242G>A c.224G>A c.11832G>A (p.Glu3944=) c.11817G>A (p.Glu3939=) c.11814G>A (p.Glu3938=) c.441G>A c.5201G>A c.11799G>A (p.Glu3933=) c.11829G>A (p.Glu3943=) | gnomAD v4 |
| 19 | g.38543585G>C | CA405661973 | RYR1 | c.242G>C c.224G>C c.11832G>C (p.Glu3944Asp) c.11817G>C (p.Glu3939Asp) c.11814G>C (p.Glu3938Asp) c.441G>C c.5201G>C c.11799G>C (p.Glu3933Asp) c.11829G>C (p.Glu3943Asp) | |
| 19 | g.38543585G>T | CA405661974 | RYR1 | c.242G>T c.224G>T c.11832G>T (p.Glu3944Asp) c.11817G>T (p.Glu3939Asp) c.11814G>T (p.Glu3938Asp) c.441G>T c.5201G>T c.11799G>T (p.Glu3933Asp) c.11829G>T (p.Glu3943Asp) | |
| 19 | g.38543586C>A | CA405661975 | RYR1 | c.243C>A c.225C>A c.11833C>A (p.Gln3945Lys) c.11818C>A (p.Gln3940Lys) c.11815C>A (p.Gln3939Lys) c.442C>A c.5202C>A c.11800C>A (p.Gln3934Lys) c.11830C>A (p.Gln3944Lys) | |
| 19 | g.38543586C= | CA2335074425 | RYR1 | c.243C= c.225C= c.11833C= (p.Gln3945=) c.11818C= (p.Gln3940=) c.11815C= (p.Gln3939=) c.442C= c.5202C= c.11800C= (p.Gln3934=) c.11830C= (p.Gln3944=) | |
| 19 | g.38543586C>G | CA405661976 | RYR1 | c.243C>G c.225C>G c.11833C>G (p.Gln3945Glu) c.11818C>G (p.Gln3940Glu) c.11815C>G (p.Gln3939Glu) c.442C>G c.5202C>G c.11800C>G (p.Gln3934Glu) c.11830C>G (p.Gln3944Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543586C>T | CA405661977 | RYR1 | c.243C>T c.225C>T c.11833C>T (p.Gln3945Ter) c.11818C>T (p.Gln3940Ter) c.11815C>T (p.Gln3939Ter) c.442C>T c.5202C>T c.11800C>T (p.Gln3934Ter) c.11830C>T (p.Gln3944Ter) | |
| 19 | g.38543587A= | CA2335074426 | RYR1 | c.244A= c.226A= c.11834A= (p.Gln3945=) c.11819A= (p.Gln3940=) c.11816A= (p.Gln3939=) c.443A= c.5203A= c.11801A= (p.Gln3934=) c.11831A= (p.Gln3944=) | |
| 19 | g.38543587A>C | CA405661979 | RYR1 | c.244A>C c.226A>C c.11834A>C (p.Gln3945Pro) c.11819A>C (p.Gln3940Pro) c.11816A>C (p.Gln3939Pro) c.443A>C c.5203A>C c.11801A>C (p.Gln3934Pro) c.11831A>C (p.Gln3944Pro) | |
| 19 | g.38543587A>G | CA405661982 | RYR1 | c.244A>G c.226A>G c.11834A>G (p.Gln3945Arg) c.11819A>G (p.Gln3940Arg) c.11816A>G (p.Gln3939Arg) c.443A>G c.5203A>G c.11801A>G (p.Gln3934Arg) c.11831A>G (p.Gln3944Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543587A>T | CA405661987 | RYR1 | c.244A>T c.226A>T c.11834A>T (p.Gln3945Leu) c.11819A>T (p.Gln3940Leu) c.11816A>T (p.Gln3939Leu) c.443A>T c.5203A>T c.11801A>T (p.Gln3934Leu) c.11831A>T (p.Gln3944Leu) | |
| 19 | g.38543588G>A | CA507355067 | RYR1 | c.245G>A c.227G>A c.11835G>A (p.Gln3945=) c.11820G>A (p.Gln3940=) c.11817G>A (p.Gln3939=) c.444G>A c.5204G>A c.11802G>A (p.Gln3934=) c.11832G>A (p.Gln3944=) | gnomAD v4 |
| 19 | g.38543588G>C | CA405661991 | RYR1 | c.245G>C c.227G>C c.11835G>C (p.Gln3945His) c.11820G>C (p.Gln3940His) c.11817G>C (p.Gln3939His) c.444G>C c.5204G>C c.11802G>C (p.Gln3934His) c.11832G>C (p.Gln3944His) | |
| 19 | g.38543588G>T | CA405661994 | RYR1 | c.245G>T c.227G>T c.11835G>T (p.Gln3945His) c.11820G>T (p.Gln3940His) c.11817G>T (p.Gln3939His) c.444G>T c.5204G>T c.11802G>T (p.Gln3934His) c.11832G>T (p.Gln3944His) | |
| 19 | g.38543589G>A | CA405661996 | RYR1 | c.246G>A c.228G>A c.11836G>A (p.Gly3946Ser) c.11821G>A (p.Gly3941Ser) c.11818G>A (p.Gly3940Ser) c.445G>A c.5205G>A c.11803G>A (p.Gly3935Ser) c.11833G>A (p.Gly3945Ser) | dbSNP |
| 19 | g.38543589G>C | CA405662000 | RYR1 | c.246G>C c.228G>C c.11836G>C (p.Gly3946Arg) c.11821G>C (p.Gly3941Arg) c.11818G>C (p.Gly3940Arg) c.445G>C c.5205G>C c.11803G>C (p.Gly3935Arg) c.11833G>C (p.Gly3945Arg) | |
| 19 | g.38543589G= | CA2335074427 | RYR1 | c.246G= c.228G= c.11836G= (p.Gly3946=) c.11821G= (p.Gly3941=) c.11818G= (p.Gly3940=) c.445G= c.5205G= c.11803G= (p.Gly3935=) c.11833G= (p.Gly3945=) | |
| 19 | g.38543589G>T | CA405662008 | RYR1 | c.246G>T c.228G>T c.11836G>T (p.Gly3946Cys) c.11821G>T (p.Gly3941Cys) c.11818G>T (p.Gly3940Cys) c.445G>T c.5205G>T c.11803G>T (p.Gly3935Cys) c.11833G>T (p.Gly3945Cys) | |
| 19 | g.38543590G>A | CA405662011 | RYR1 | c.247G>A c.229G>A c.11837G>A (p.Gly3946Asp) c.11822G>A (p.Gly3941Asp) c.11819G>A (p.Gly3940Asp) c.446G>A c.5206G>A c.11804G>A (p.Gly3935Asp) c.11834G>A (p.Gly3945Asp) | |
| 19 | g.38543590G>C | CA405662014 | RYR1 | c.247G>C c.229G>C c.11837G>C (p.Gly3946Ala) c.11822G>C (p.Gly3941Ala) c.11819G>C (p.Gly3940Ala) c.446G>C c.5206G>C c.11804G>C (p.Gly3935Ala) c.11834G>C (p.Gly3945Ala) | |
| 19 | g.38543590G>T | CA405662020 | RYR1 | c.247G>T c.229G>T c.11837G>T (p.Gly3946Val) c.11822G>T (p.Gly3941Val) c.11819G>T (p.Gly3940Val) c.446G>T c.5206G>T c.11804G>T (p.Gly3935Val) c.11834G>T (p.Gly3945Val) | gnomAD v4 |
| 19 | g.38543591C>A | CA507355079 | RYR1 | c.248C>A c.230C>A c.11838C>A (p.Gly3946=) c.11823C>A (p.Gly3941=) c.11820C>A (p.Gly3940=) c.447C>A c.5207C>A c.11805C>A (p.Gly3935=) c.11835C>A (p.Gly3945=) | |
| 19 | g.38543591C= | CA2335074428 | RYR1 | c.248C= c.230C= c.11838C= (p.Gly3946=) c.11823C= (p.Gly3941=) c.11820C= (p.Gly3940=) c.447C= c.5207C= c.11805C= (p.Gly3935=) c.11835C= (p.Gly3945=) | |
| 19 | g.38543591C>G | CA507355077 | RYR1 | c.248C>G c.230C>G c.11838C>G (p.Gly3946=) c.11823C>G (p.Gly3941=) c.11820C>G (p.Gly3940=) c.447C>G c.5207C>G c.11805C>G (p.Gly3935=) c.11835C>G (p.Gly3945=) | |
| 19 | g.38543591C>T | CA057694 | RYR1 | c.248C>T c.230C>T c.11838C>T (p.Gly3946=) c.11823C>T (p.Gly3941=) c.11820C>T (p.Gly3940=) c.447C>T c.5207C>T c.11805C>T (p.Gly3935=) c.11835C>T (p.Gly3945=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543592A>C | CA405662028 | RYR1 | c.249A>C c.231A>C c.11839A>C (p.Lys3947Gln) c.11824A>C (p.Lys3942Gln) c.11821A>C (p.Lys3941Gln) c.448A>C c.5208A>C c.11806A>C (p.Lys3936Gln) c.11836A>C (p.Lys3946Gln) | |
| 19 | g.38543592A>G | CA405662030 | RYR1 | c.249A>G c.231A>G c.11839A>G (p.Lys3947Glu) c.11824A>G (p.Lys3942Glu) c.11821A>G (p.Lys3941Glu) c.448A>G c.5208A>G c.11806A>G (p.Lys3936Glu) c.11836A>G (p.Lys3946Glu) | |
| 19 | g.38543592A>T | CA405662031 | RYR1 | c.249A>T c.231A>T c.11839A>T (p.Lys3947Ter) c.11824A>T (p.Lys3942Ter) c.11821A>T (p.Lys3941Ter) c.448A>T c.5208A>T c.11806A>T (p.Lys3936Ter) c.11836A>T (p.Lys3946Ter) | |
| 19 | g.38543593A>C | CA405662033 | RYR1 | c.250A>C c.232A>C c.11840A>C (p.Lys3947Thr) c.11825A>C (p.Lys3942Thr) c.11822A>C (p.Lys3941Thr) c.449A>C c.5209A>C c.11807A>C (p.Lys3936Thr) c.11837A>C (p.Lys3946Thr) | gnomAD v4 |
| 19 | g.38543593A>G | CA405662035 | RYR1 | c.250A>G c.232A>G c.11840A>G (p.Lys3947Arg) c.11825A>G (p.Lys3942Arg) c.11822A>G (p.Lys3941Arg) c.449A>G c.5209A>G c.11807A>G (p.Lys3936Arg) c.11837A>G (p.Lys3946Arg) | |
| 19 | g.38543593A>T | CA405662038 | RYR1 | c.250A>T c.232A>T c.11840A>T (p.Lys3947Met) c.11825A>T (p.Lys3942Met) c.11822A>T (p.Lys3941Met) c.449A>T c.5209A>T c.11807A>T (p.Lys3936Met) c.11837A>T (p.Lys3946Met) | |
| 19 | g.38543594G>A | CA507355089 | RYR1 | c.251G>A c.233G>A c.11841G>A (p.Lys3947=) c.11826G>A (p.Lys3942=) c.11823G>A (p.Lys3941=) c.450G>A c.5210G>A c.11808G>A (p.Lys3936=) c.11838G>A (p.Lys3946=) | |
| 19 | g.38543594G>C | CA405662040 | RYR1 | c.251G>C c.233G>C c.11841G>C (p.Lys3947Asn) c.11826G>C (p.Lys3942Asn) c.11823G>C (p.Lys3941Asn) c.450G>C c.5210G>C c.11808G>C (p.Lys3936Asn) c.11838G>C (p.Lys3946Asn) | gnomAD v4 |
| 19 | g.38543594G>T | CA405662043 | RYR1 | c.251G>T c.233G>T c.11841G>T (p.Lys3947Asn) c.11826G>T (p.Lys3942Asn) c.11823G>T (p.Lys3941Asn) c.450G>T c.5210G>T c.11808G>T (p.Lys3936Asn) c.11838G>T (p.Lys3946Asn) | |
| 19 | g.38543595A= | CA2335074429 | RYR1 | c.252A= c.234A= c.11842A= (p.Arg3948=) c.11827A= (p.Arg3943=) c.11824A= (p.Arg3942=) c.451A= c.5211A= c.11809A= (p.Arg3937=) c.11839A= (p.Arg3947=) | |
| 19 | g.38543595A>C | CA507355093 | RYR1 | c.252A>C c.234A>C c.11842A>C (p.Arg3948=) c.11827A>C (p.Arg3943=) c.11824A>C (p.Arg3942=) c.451A>C c.5211A>C c.11809A>C (p.Arg3937=) c.11839A>C (p.Arg3947=) | |
| 19 | g.38543595A>G | CA057697 | RYR1 | c.252A>G c.234A>G c.11842A>G (p.Arg3948Gly) c.11827A>G (p.Arg3943Gly) c.11824A>G (p.Arg3942Gly) c.451A>G c.5211A>G c.11809A>G (p.Arg3937Gly) c.11839A>G (p.Arg3947Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543595A>T | CA405662046 | RYR1 | c.252A>T c.234A>T c.11842A>T (p.Arg3948Trp) c.11827A>T (p.Arg3943Trp) c.11824A>T (p.Arg3942Trp) c.451A>T c.5211A>T c.11809A>T (p.Arg3937Trp) c.11839A>T (p.Arg3947Trp) | |
| 19 | g.38543596G>A | CA405662049 | RYR1 | c.253G>A c.235G>A c.11843G>A (p.Arg3948Lys) c.11828G>A (p.Arg3943Lys) c.11825G>A (p.Arg3942Lys) c.452G>A c.5212G>A c.11810G>A (p.Arg3937Lys) c.11840G>A (p.Arg3947Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543596G>C | CA405662051 | RYR1 | c.253G>C c.235G>C c.11843G>C (p.Arg3948Thr) c.11828G>C (p.Arg3943Thr) c.11825G>C (p.Arg3942Thr) c.452G>C c.5212G>C c.11810G>C (p.Arg3937Thr) c.11840G>C (p.Arg3947Thr) | |
| 19 | g.38543596G= | CA2335074430 | RYR1 | c.253G= c.235G= c.11843G= (p.Arg3948=) c.11828G= (p.Arg3943=) c.11825G= (p.Arg3942=) c.452G= c.5212G= c.11810G= (p.Arg3937=) c.11840G= (p.Arg3947=) | |
| 19 | g.38543596G>T | CA405662054 | RYR1 | c.253G>T c.235G>T c.11843G>T (p.Arg3948Met) c.11828G>T (p.Arg3943Met) c.11825G>T (p.Arg3942Met) c.452G>T c.5212G>T c.11810G>T (p.Arg3937Met) c.11840G>T (p.Arg3947Met) | |
| 19 | g.38543597G>A | CA507355103 | RYR1 | c.254G>A c.236G>A c.11844G>A (p.Arg3948=) c.11829G>A (p.Arg3943=) c.11826G>A (p.Arg3942=) c.453G>A c.5213G>A c.11811G>A (p.Arg3937=) c.11841G>A (p.Arg3947=) | COSMIC |
| 19 | g.38543597G>C | CA405662056 | RYR1 | c.254G>C c.236G>C c.11844G>C (p.Arg3948Ser) c.11829G>C (p.Arg3943Ser) c.11826G>C (p.Arg3942Ser) c.453G>C c.5213G>C c.11811G>C (p.Arg3937Ser) c.11841G>C (p.Arg3947Ser) | |
| 19 | g.38543597G>T | CA405662059 | RYR1 | c.254G>T c.236G>T c.11844G>T (p.Arg3948Ser) c.11829G>T (p.Arg3943Ser) c.11826G>T (p.Arg3942Ser) c.453G>T c.5213G>T c.11811G>T (p.Arg3937Ser) c.11841G>T (p.Arg3947Ser) | |
| 19 | g.38543598A>C | CA405662066 | RYR1 | c.255A>C c.237A>C c.11845A>C (p.Asn3949His) c.11830A>C (p.Asn3944His) c.11827A>C (p.Asn3943His) c.454A>C c.5214A>C c.11812A>C (p.Asn3938His) c.11842A>C (p.Asn3948His) | |
| 19 | g.38543598A>G | CA080462 | RYR1 | c.255A>G c.237A>G c.11845A>G (p.Asn3949Asp) c.11830A>G (p.Asn3944Asp) c.11827A>G (p.Asn3943Asp) c.454A>G c.5214A>G c.11812A>G (p.Asn3938Asp) c.11842A>G (p.Asn3948Asp) | |
| 19 | g.38543598A>T | CA405662064 | RYR1 | c.255A>T c.237A>T c.11845A>T (p.Asn3949Tyr) c.11830A>T (p.Asn3944Tyr) c.11827A>T (p.Asn3943Tyr) c.454A>T c.5214A>T c.11812A>T (p.Asn3938Tyr) c.11842A>T (p.Asn3948Tyr) | gnomAD v4 |
| 19 | g.38543599A>C | CA405662069 | RYR1 | c.256A>C c.238A>C c.11846A>C (p.Asn3949Thr) c.11831A>C (p.Asn3944Thr) c.11828A>C (p.Asn3943Thr) c.455A>C c.5215A>C c.11813A>C (p.Asn3938Thr) c.11843A>C (p.Asn3948Thr) | |
| 19 | g.38543599A>G | CA405662071 | RYR1 | c.256A>G c.238A>G c.11846A>G (p.Asn3949Ser) c.11831A>G (p.Asn3944Ser) c.11828A>G (p.Asn3943Ser) c.455A>G c.5215A>G c.11813A>G (p.Asn3938Ser) c.11843A>G (p.Asn3948Ser) | |
| 19 | g.38543599A>T | CA405662073 | RYR1 | c.256A>T c.238A>T c.11846A>T (p.Asn3949Ile) c.11831A>T (p.Asn3944Ile) c.11828A>T (p.Asn3943Ile) c.455A>T c.5215A>T c.11813A>T (p.Asn3938Ile) c.11843A>T (p.Asn3948Ile) | |
| 19 | g.38543600C>A | CA405662075 | RYR1 | c.257C>A c.239C>A c.11847C>A (p.Asn3949Lys) c.11832C>A (p.Asn3944Lys) c.11829C>A (p.Asn3943Lys) c.456C>A c.5216C>A c.11814C>A (p.Asn3938Lys) c.11844C>A (p.Asn3948Lys) | |
| 19 | g.38543600C>G | CA405662081 | RYR1 | c.257C>G c.239C>G c.11847C>G (p.Asn3949Lys) c.11832C>G (p.Asn3944Lys) c.11829C>G (p.Asn3943Lys) c.456C>G c.5216C>G c.11814C>G (p.Asn3938Lys) c.11844C>G (p.Asn3948Lys) | |
| 19 | g.38543600C>T | CA507355116 | RYR1 | c.257C>T c.239C>T c.11847C>T (p.Asn3949=) c.11832C>T (p.Asn3944=) c.11829C>T (p.Asn3943=) c.456C>T c.5216C>T c.11814C>T (p.Asn3938=) c.11844C>T (p.Asn3948=) | ClinVar |
| 19 | g.38543601T>A | CA405662085 | RYR1 | c.258T>A c.240T>A c.11848T>A (p.Phe3950Ile) c.11833T>A (p.Phe3945Ile) c.11830T>A (p.Phe3944Ile) c.457T>A c.5217T>A c.11815T>A (p.Phe3939Ile) c.11845T>A (p.Phe3949Ile) | dbSNP |
| 19 | g.38543601T>C | CA405662089 | RYR1 | c.258T>C c.240T>C c.11848T>C (p.Phe3950Leu) c.11833T>C (p.Phe3945Leu) c.11830T>C (p.Phe3944Leu) c.457T>C c.5217T>C c.11815T>C (p.Phe3939Leu) c.11845T>C (p.Phe3949Leu) | |
| 19 | g.38543601T>G | CA405662087 | RYR1 | c.258T>G c.240T>G c.11848T>G (p.Phe3950Val) c.11833T>G (p.Phe3945Val) c.11830T>G (p.Phe3944Val) c.457T>G c.5217T>G c.11815T>G (p.Phe3939Val) c.11845T>G (p.Phe3949Val) | |
| 19 | g.38543601T= | CA2335074431 | RYR1 | c.258T= c.240T= c.11848T= (p.Phe3950=) c.11833T= (p.Phe3945=) c.11830T= (p.Phe3944=) c.457T= c.5217T= c.11815T= (p.Phe3939=) c.11845T= (p.Phe3949=) | |
| 19 | g.38543602T>A | CA405662092 | RYR1 | c.259T>A c.241T>A c.11849T>A (p.Phe3950Tyr) c.11834T>A (p.Phe3945Tyr) c.11831T>A (p.Phe3944Tyr) c.458T>A c.5218T>A c.11816T>A (p.Phe3939Tyr) c.11846T>A (p.Phe3949Tyr) | |
| 19 | g.38543602T>C | CA405662095 | RYR1 | c.259T>C c.241T>C c.11849T>C (p.Phe3950Ser) c.11834T>C (p.Phe3945Ser) c.11831T>C (p.Phe3944Ser) c.458T>C c.5218T>C c.11816T>C (p.Phe3939Ser) c.11846T>C (p.Phe3949Ser) | |
| 19 | g.38543602T>G | CA405662097 | RYR1 | c.259T>G c.241T>G c.11849T>G (p.Phe3950Cys) c.11834T>G (p.Phe3945Cys) c.11831T>G (p.Phe3944Cys) c.458T>G c.5218T>G c.11816T>G (p.Phe3939Cys) c.11846T>G (p.Phe3949Cys) | |
| 19 | g.38543603C>A | CA405662099 | RYR1 | c.260C>A c.242C>A c.11850C>A (p.Phe3950Leu) c.11835C>A (p.Phe3945Leu) c.11832C>A (p.Phe3944Leu) c.459C>A c.5219C>A c.11817C>A (p.Phe3939Leu) c.11847C>A (p.Phe3949Leu) | |
| 19 | g.38543603C>G | CA405662103 | RYR1 | c.260C>G c.242C>G c.11850C>G (p.Phe3950Leu) c.11835C>G (p.Phe3945Leu) c.11832C>G (p.Phe3944Leu) c.459C>G c.5219C>G c.11817C>G (p.Phe3939Leu) c.11847C>G (p.Phe3949Leu) | |
| 19 | g.38543603C>T | CA507355130 | RYR1 | c.260C>T c.242C>T c.11850C>T (p.Phe3950=) c.11835C>T (p.Phe3945=) c.11832C>T (p.Phe3944=) c.459C>T c.5219C>T c.11817C>T (p.Phe3939=) c.11847C>T (p.Phe3949=) | |
| 19 | g.38543604T>A | CA405662104 | RYR1 | c.261T>A c.243T>A c.11851T>A (p.Ser3951Thr) c.11836T>A (p.Ser3946Thr) c.11833T>A (p.Ser3945Thr) c.460T>A c.5220T>A c.11818T>A (p.Ser3940Thr) c.11848T>A (p.Ser3950Thr) | |
| 19 | g.38543604T>C | CA405662105 | RYR1 | c.261T>C c.243T>C c.11851T>C (p.Ser3951Pro) c.11836T>C (p.Ser3946Pro) c.11833T>C (p.Ser3945Pro) c.460T>C c.5220T>C c.11818T>C (p.Ser3940Pro) c.11848T>C (p.Ser3950Pro) | |
| 19 | g.38543604T>G | CA405662106 | RYR1 | c.261T>G c.243T>G c.11851T>G (p.Ser3951Ala) c.11836T>G (p.Ser3946Ala) c.11833T>G (p.Ser3945Ala) c.460T>G c.5220T>G c.11818T>G (p.Ser3940Ala) c.11848T>G (p.Ser3950Ala) | |
| 19 | g.38543605C>A | CA405662107 | RYR1 | c.262C>A c.244C>A c.11852C>A (p.Ser3951Tyr) c.11837C>A (p.Ser3946Tyr) c.11834C>A (p.Ser3945Tyr) c.461C>A c.5221C>A c.11819C>A (p.Ser3940Tyr) c.11849C>A (p.Ser3950Tyr) | |
| 19 | g.38543605C>G | CA405662108 | RYR1 | c.262C>G c.244C>G c.11852C>G (p.Ser3951Cys) c.11837C>G (p.Ser3946Cys) c.11834C>G (p.Ser3945Cys) c.461C>G c.5221C>G c.11819C>G (p.Ser3940Cys) c.11849C>G (p.Ser3950Cys) | COSMIC |
| 19 | g.38543605C>T | CA405662110 | RYR1 | c.262C>T c.244C>T c.11852C>T (p.Ser3951Phe) c.11837C>T (p.Ser3946Phe) c.11834C>T (p.Ser3945Phe) c.461C>T c.5221C>T c.11819C>T (p.Ser3940Phe) c.11849C>T (p.Ser3950Phe) | |
| 19 | g.38543606C>A | CA507355140 | RYR1 | c.263C>A c.245C>A c.11853C>A (p.Ser3951=) c.11838C>A (p.Ser3946=) c.11835C>A (p.Ser3945=) c.462C>A c.5222C>A c.11820C>A (p.Ser3940=) c.11850C>A (p.Ser3950=) | |
| 19 | g.38543606C>G | CA507355144 | RYR1 | c.263C>G c.245C>G c.11853C>G (p.Ser3951=) c.11838C>G (p.Ser3946=) c.11835C>G (p.Ser3945=) c.462C>G c.5222C>G c.11820C>G (p.Ser3940=) c.11850C>G (p.Ser3950=) | |
| 19 | g.38543606C>T | CA507355146 | RYR1 | c.263C>T c.245C>T c.11853C>T (p.Ser3951=) c.11838C>T (p.Ser3946=) c.11835C>T (p.Ser3945=) c.462C>T c.5222C>T c.11820C>T (p.Ser3940=) c.11850C>T (p.Ser3950=) | |
| 19 | g.38543607A>C | CA405662112 | RYR1 | c.264A>C c.246A>C c.11854A>C (p.Lys3952Gln) c.11839A>C (p.Lys3947Gln) c.11836A>C (p.Lys3946Gln) c.463A>C c.5223A>C c.11821A>C (p.Lys3941Gln) c.11851A>C (p.Lys3951Gln) | |
| 19 | g.38543607A>G | CA405662114 | RYR1 | c.264A>G c.246A>G c.11854A>G (p.Lys3952Glu) c.11839A>G (p.Lys3947Glu) c.11836A>G (p.Lys3946Glu) c.463A>G c.5223A>G c.11821A>G (p.Lys3941Glu) c.11851A>G (p.Lys3951Glu) | |
| 19 | g.38543607A>T | CA405662113 | RYR1 | c.264A>T c.246A>T c.11854A>T (p.Lys3952Ter) c.11839A>T (p.Lys3947Ter) c.11836A>T (p.Lys3946Ter) c.463A>T c.5223A>T c.11821A>T (p.Lys3941Ter) c.11851A>T (p.Lys3951Ter) | |
| 19 | g.38543608A>C | CA405662116 | RYR1 | c.265A>C c.247A>C c.11855A>C (p.Lys3952Thr) c.11840A>C (p.Lys3947Thr) c.11837A>C (p.Lys3946Thr) c.464A>C c.5224A>C c.11822A>C (p.Lys3941Thr) c.11852A>C (p.Lys3951Thr) | |
| 19 | g.38543608A>G | CA405662119 | RYR1 | c.265A>G c.247A>G c.11855A>G (p.Lys3952Arg) c.11840A>G (p.Lys3947Arg) c.11837A>G (p.Lys3946Arg) c.464A>G c.5224A>G c.11822A>G (p.Lys3941Arg) c.11852A>G (p.Lys3951Arg) | |
| 19 | g.38543608A>T | CA405662117 | RYR1 | c.265A>T c.247A>T c.11855A>T (p.Lys3952Ile) c.11840A>T (p.Lys3947Ile) c.11837A>T (p.Lys3946Ile) c.464A>T c.5224A>T c.11822A>T (p.Lys3941Ile) c.11852A>T (p.Lys3951Ile) | |
| 19 | g.38543609A>C | CA405662122 | RYR1 | c.266A>C c.248A>C c.11856A>C (p.Lys3952Asn) c.11841A>C (p.Lys3947Asn) c.11838A>C (p.Lys3946Asn) c.465A>C c.5225A>C c.11823A>C (p.Lys3941Asn) c.11853A>C (p.Lys3951Asn) | |
| 19 | g.38543609A>G | CA507355163 | RYR1 | c.266A>G c.248A>G c.11856A>G (p.Lys3952=) c.11841A>G (p.Lys3947=) c.11838A>G (p.Lys3946=) c.465A>G c.5225A>G c.11823A>G (p.Lys3941=) c.11853A>G (p.Lys3951=) | ClinVar |
| 19 | g.38543609A>T | CA405662124 | RYR1 | c.266A>T c.248A>T c.11856A>T (p.Lys3952Asn) c.11841A>T (p.Lys3947Asn) c.11838A>T (p.Lys3946Asn) c.465A>T c.5225A>T c.11823A>T (p.Lys3941Asn) c.11853A>T (p.Lys3951Asn) | |
| 19 | g.38543610G>A | CA405662127 | RYR1 | c.267G>A c.249G>A c.11857G>A (p.Ala3953Thr) c.11842G>A (p.Ala3948Thr) c.11839G>A (p.Ala3947Thr) c.466G>A c.5226G>A c.11824G>A (p.Ala3942Thr) c.11854G>A (p.Ala3952Thr) | |
| 19 | g.38543610G>C | CA405662129 | RYR1 | c.267G>C c.249G>C c.11857G>C (p.Ala3953Pro) c.11842G>C (p.Ala3948Pro) c.11839G>C (p.Ala3947Pro) c.466G>C c.5226G>C c.11824G>C (p.Ala3942Pro) c.11854G>C (p.Ala3952Pro) | |
| 19 | g.38543610G>T | CA405662131 | RYR1 | c.267G>T c.249G>T c.11857G>T (p.Ala3953Ser) c.11842G>T (p.Ala3948Ser) c.11839G>T (p.Ala3947Ser) c.466G>T c.5226G>T c.11824G>T (p.Ala3942Ser) c.11854G>T (p.Ala3952Ser) | |
| 19 | g.38543611C>A | CA405662135 | RYR1 | c.268C>A c.250C>A c.11858C>A (p.Ala3953Asp) c.11843C>A (p.Ala3948Asp) c.11840C>A (p.Ala3947Asp) c.467C>A c.5227C>A c.11825C>A (p.Ala3942Asp) c.11855C>A (p.Ala3952Asp) | COSMIC |
| 19 | g.38543611C>G | CA405662137 | RYR1 | c.268C>G c.250C>G c.11858C>G (p.Ala3953Gly) c.11843C>G (p.Ala3948Gly) c.11840C>G (p.Ala3947Gly) c.467C>G c.5227C>G c.11825C>G (p.Ala3942Gly) c.11855C>G (p.Ala3952Gly) | |
| 19 | g.38543611C>T | CA405662139 | RYR1 | c.268C>T c.250C>T c.11858C>T (p.Ala3953Val) c.11843C>T (p.Ala3948Val) c.11840C>T (p.Ala3947Val) c.467C>T c.5227C>T c.11825C>T (p.Ala3942Val) c.11855C>T (p.Ala3952Val) | |
| 19 | g.38543612C>A | CA507355172 | RYR1 | c.269C>A c.251C>A c.11859C>A (p.Ala3953=) c.11844C>A (p.Ala3948=) c.11841C>A (p.Ala3947=) c.468C>A c.5228C>A c.11826C>A (p.Ala3942=) c.11856C>A (p.Ala3952=) | |
| 19 | g.38543612C= | CA2335074432 | RYR1 | c.269C= c.251C= c.11859C= (p.Ala3953=) c.11844C= (p.Ala3948=) c.11841C= (p.Ala3947=) c.468C= c.5228C= c.11826C= (p.Ala3942=) c.11856C= (p.Ala3952=) | |
| 19 | g.38543612C>G | CA507355177 | RYR1 | c.269C>G c.251C>G c.11859C>G (p.Ala3953=) c.11844C>G (p.Ala3948=) c.11841C>G (p.Ala3947=) c.468C>G c.5228C>G c.11826C>G (p.Ala3942=) c.11856C>G (p.Ala3952=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543612C>T | CA507355174 | RYR1 | c.269C>T c.251C>T c.11859C>T (p.Ala3953=) c.11844C>T (p.Ala3948=) c.11841C>T (p.Ala3947=) c.468C>T c.5228C>T c.11826C>T (p.Ala3942=) c.11856C>T (p.Ala3952=) | |
| 19 | g.38543613A>C | CA405662142 | RYR1 | c.270A>C c.252A>C c.11860A>C (p.Met3954Leu) c.11845A>C (p.Met3949Leu) c.11842A>C (p.Met3948Leu) c.469A>C c.5229A>C c.11827A>C (p.Met3943Leu) c.11857A>C (p.Met3953Leu) | |
| 19 | g.38543613A>G | CA405662143 | RYR1 | c.270A>G c.252A>G c.11860A>G (p.Met3954Val) c.11845A>G (p.Met3949Val) c.11842A>G (p.Met3948Val) c.469A>G c.5229A>G c.11827A>G (p.Met3943Val) c.11857A>G (p.Met3953Val) | |
| 19 | g.38543613A>T | CA405662148 | RYR1 | c.270A>T c.252A>T c.11860A>T (p.Met3954Leu) c.11845A>T (p.Met3949Leu) c.11842A>T (p.Met3948Leu) c.469A>T c.5229A>T c.11827A>T (p.Met3943Leu) c.11857A>T (p.Met3953Leu) | |
| 19 | g.38543614T>A | CA405662155 | RYR1 | c.271T>A c.253T>A c.11861T>A (p.Met3954Lys) c.11846T>A (p.Met3949Lys) c.11843T>A (p.Met3948Lys) c.470T>A c.5230T>A c.11828T>A (p.Met3943Lys) c.11858T>A (p.Met3953Lys) | |
| 19 | g.38543614T>C | CA405662153 | RYR1 | c.271T>C c.253T>C c.11861T>C (p.Met3954Thr) c.11846T>C (p.Met3949Thr) c.11843T>C (p.Met3948Thr) c.470T>C c.5230T>C c.11828T>C (p.Met3943Thr) c.11858T>C (p.Met3953Thr) | |
| 19 | g.38543614T>G | CA405662151 | RYR1 | c.271T>G c.253T>G c.11861T>G (p.Met3954Arg) c.11846T>G (p.Met3949Arg) c.11843T>G (p.Met3948Arg) c.470T>G c.5230T>G c.11828T>G (p.Met3943Arg) c.11858T>G (p.Met3953Arg) | |
| 19 | g.38543615G>A | CA405662158 | RYR1 | c.272G>A c.254G>A c.11862G>A (p.Met3954Ile) c.11847G>A (p.Met3949Ile) c.11844G>A (p.Met3948Ile) c.471G>A c.5231G>A c.11829G>A (p.Met3943Ile) c.11859G>A (p.Met3953Ile) | |
| 19 | g.38543615G>C | CA405662159 | RYR1 | c.272G>C c.254G>C c.11862G>C (p.Met3954Ile) c.11847G>C (p.Met3949Ile) c.11844G>C (p.Met3948Ile) c.471G>C c.5231G>C c.11829G>C (p.Met3943Ile) c.11859G>C (p.Met3953Ile) | |
| 19 | g.38543615G>T | CA405662160 | RYR1 | c.272G>T c.254G>T c.11862G>T (p.Met3954Ile) c.11847G>T (p.Met3949Ile) c.11844G>T (p.Met3948Ile) c.471G>T c.5231G>T c.11829G>T (p.Met3943Ile) c.11859G>T (p.Met3953Ile) | |
| 19 | g.38543616T>A | CA405662161 | RYR1 | c.273T>A c.255T>A c.11863T>A (p.Ser3955Thr) c.11848T>A (p.Ser3950Thr) c.11845T>A (p.Ser3949Thr) c.472T>A c.5232T>A c.11830T>A (p.Ser3944Thr) c.11860T>A (p.Ser3954Thr) | |
| 19 | g.38543616T>C | CA405662162 | RYR1 | c.273T>C c.255T>C c.11863T>C (p.Ser3955Pro) c.11848T>C (p.Ser3950Pro) c.11845T>C (p.Ser3949Pro) c.472T>C c.5232T>C c.11830T>C (p.Ser3944Pro) c.11860T>C (p.Ser3954Pro) | |
| 19 | g.38543616T>G | CA405662163 | RYR1 | c.273T>G c.255T>G c.11863T>G (p.Ser3955Ala) c.11848T>G (p.Ser3950Ala) c.11845T>G (p.Ser3949Ala) c.472T>G c.5232T>G c.11830T>G (p.Ser3944Ala) c.11860T>G (p.Ser3954Ala) | gnomAD v4 |
| 19 | g.38543617C>A | CA405662165 | RYR1 | c.274C>A c.256C>A c.11864C>A (p.Ser3955Ter) c.11849C>A (p.Ser3950Ter) c.11846C>A (p.Ser3949Ter) c.473C>A c.5233C>A c.11831C>A (p.Ser3944Ter) c.11861C>A (p.Ser3954Ter) | |
| 19 | g.38543617C= | CA2335074433 | RYR1 | c.274C= c.256C= c.11864C= (p.Ser3955=) c.11849C= (p.Ser3950=) c.11846C= (p.Ser3949=) c.473C= c.5233C= c.11831C= (p.Ser3944=) c.11861C= (p.Ser3954=) | |
| 19 | g.38543617C>G | CA057706 | RYR1 | c.274C>G c.256C>G c.11864C>G (p.Ser3955Trp) c.11849C>G (p.Ser3950Trp) c.11846C>G (p.Ser3949Trp) c.473C>G c.5233C>G c.11831C>G (p.Ser3944Trp) c.11861C>G (p.Ser3954Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543617C>T | CA057714 | RYR1 | c.274C>T c.256C>T c.11864C>T (p.Ser3955Leu) c.11849C>T (p.Ser3950Leu) c.11846C>T (p.Ser3949Leu) c.473C>T c.5233C>T c.11831C>T (p.Ser3944Leu) c.11861C>T (p.Ser3954Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543618G>A | CA507355199 | RYR1 | c.275G>A c.257G>A c.11865G>A (p.Ser3955=) c.11850G>A (p.Ser3950=) c.11847G>A (p.Ser3949=) c.474G>A c.5234G>A c.11832G>A (p.Ser3944=) c.11862G>A (p.Ser3954=) | ClinVar gnomAD v4 |
| 19 | g.38543618G>C | CA507355201 | RYR1 | c.275G>C c.257G>C c.11865G>C (p.Ser3955=) c.11850G>C (p.Ser3950=) c.11847G>C (p.Ser3949=) c.474G>C c.5234G>C c.11832G>C (p.Ser3944=) c.11862G>C (p.Ser3954=) | |
| 19 | g.38543618G= | CA2335074434 | RYR1 | c.275G= c.257G= c.11865G= (p.Ser3955=) c.11850G= (p.Ser3950=) c.11847G= (p.Ser3949=) c.474G= c.5234G= c.11832G= (p.Ser3944=) c.11862G= (p.Ser3954=) | |
| 19 | g.38543618G>T | CA507355203 | RYR1 | c.275G>T c.257G>T c.11865G>T (p.Ser3955=) c.11850G>T (p.Ser3950=) c.11847G>T (p.Ser3949=) c.474G>T c.5234G>T c.11832G>T (p.Ser3944=) c.11862G>T (p.Ser3954=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543619G>A | CA405662172 | RYR1 | c.276G>A c.258G>A c.11866G>A (p.Val3956Met) c.11851G>A (p.Val3951Met) c.11848G>A (p.Val3950Met) c.475G>A c.5235G>A c.11833G>A (p.Val3945Met) c.11863G>A (p.Val3955Met) | |
| 19 | g.38543619G>C | CA405662174 | RYR1 | c.276G>C c.258G>C c.11866G>C (p.Val3956Leu) c.11851G>C (p.Val3951Leu) c.11848G>C (p.Val3950Leu) c.475G>C c.5235G>C c.11833G>C (p.Val3945Leu) c.11863G>C (p.Val3955Leu) | |
| 19 | g.38543619G>T | CA405662177 | RYR1 | c.276G>T c.258G>T c.11866G>T (p.Val3956Leu) c.11851G>T (p.Val3951Leu) c.11848G>T (p.Val3950Leu) c.475G>T c.5235G>T c.11833G>T (p.Val3945Leu) c.11863G>T (p.Val3955Leu) | COSMIC |
| 19 | g.38543620T>A | CA405662188 | RYR1 | c.277T>A c.259T>A c.11867T>A (p.Val3956Glu) c.11852T>A (p.Val3951Glu) c.11849T>A (p.Val3950Glu) c.476T>A c.5236T>A c.11834T>A (p.Val3945Glu) c.11864T>A (p.Val3955Glu) | |
| 19 | g.38543620T>C | CA405662184 | RYR1 | c.277T>C c.259T>C c.11867T>C (p.Val3956Ala) c.11852T>C (p.Val3951Ala) c.11849T>C (p.Val3950Ala) c.476T>C c.5236T>C c.11834T>C (p.Val3945Ala) c.11864T>C (p.Val3955Ala) | |
| 19 | g.38543620T>G | CA405662183 | RYR1 | c.277T>G c.259T>G c.11867T>G (p.Val3956Gly) c.11852T>G (p.Val3951Gly) c.11849T>G (p.Val3950Gly) c.476T>G c.5236T>G c.11834T>G (p.Val3945Gly) c.11864T>G (p.Val3955Gly) | |
| 19 | g.38543621G>A | CA507355214 | RYR1 | c.278G>A c.260G>A c.11868G>A (p.Val3956=) c.11853G>A (p.Val3951=) c.11850G>A (p.Val3950=) c.477G>A c.5237G>A c.11835G>A (p.Val3945=) c.11865G>A (p.Val3955=) | |
| 19 | g.38543621G>C | CA507355216 | RYR1 | c.278G>C c.260G>C c.11868G>C (p.Val3956=) c.11853G>C (p.Val3951=) c.11850G>C (p.Val3950=) c.477G>C c.5237G>C c.11835G>C (p.Val3945=) c.11865G>C (p.Val3955=) | |
| 19 | g.38543621G>T | CA507355219 | RYR1 | c.278G>T c.260G>T c.11868G>T (p.Val3956=) c.11853G>T (p.Val3951=) c.11850G>T (p.Val3950=) c.477G>T c.5237G>T c.11835G>T (p.Val3945=) c.11865G>T (p.Val3955=) | |
| 19 | g.38543622G>A | CA405662193 | RYR1 | c.279G>A c.261G>A c.11869G>A (p.Ala3957Thr) c.11854G>A (p.Ala3952Thr) c.11851G>A (p.Ala3951Thr) c.478G>A c.5238G>A c.11836G>A (p.Ala3946Thr) c.11866G>A (p.Ala3956Thr) | |
| 19 | g.38543622G>C | CA405662197 | RYR1 | c.279G>C c.261G>C c.11869G>C (p.Ala3957Pro) c.11854G>C (p.Ala3952Pro) c.11851G>C (p.Ala3951Pro) c.478G>C c.5238G>C c.11836G>C (p.Ala3946Pro) c.11866G>C (p.Ala3956Pro) | |
| 19 | g.38543622G>T | CA405662200 | RYR1 | c.279G>T c.261G>T c.11869G>T (p.Ala3957Ser) c.11854G>T (p.Ala3952Ser) c.11851G>T (p.Ala3951Ser) c.478G>T c.5238G>T c.11836G>T (p.Ala3946Ser) c.11866G>T (p.Ala3956Ser) | |
| 19 | g.38543623C>A | CA405662204 | RYR1 | c.280C>A c.262C>A c.11870C>A (p.Ala3957Asp) c.11855C>A (p.Ala3952Asp) c.11852C>A (p.Ala3951Asp) c.479C>A c.5239C>A c.11837C>A (p.Ala3946Asp) c.11867C>A (p.Ala3956Asp) | gnomAD v4 COSMIC |
| 19 | g.38543623C>G | CA405662209 | RYR1 | c.280C>G c.262C>G c.11870C>G (p.Ala3957Gly) c.11855C>G (p.Ala3952Gly) c.11852C>G (p.Ala3951Gly) c.479C>G c.5239C>G c.11837C>G (p.Ala3946Gly) c.11867C>G (p.Ala3956Gly) | |
| 19 | g.38543623C>T | CA405662212 | RYR1 | c.280C>T c.262C>T c.11870C>T (p.Ala3957Val) c.11855C>T (p.Ala3952Val) c.11852C>T (p.Ala3951Val) c.479C>T c.5239C>T c.11837C>T (p.Ala3946Val) c.11867C>T (p.Ala3956Val) | gnomAD v4 |
| 19 | g.38543624T>A | CA057725 | RYR1 | c.281T>A c.263T>A c.11871T>A (p.Ala3957=) c.11856T>A (p.Ala3952=) c.11853T>A (p.Ala3951=) c.480T>A c.5240T>A c.11838T>A (p.Ala3946=) c.11868T>A (p.Ala3956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543624T>C | CA507355230 | RYR1 | c.281T>C c.263T>C c.11871T>C (p.Ala3957=) c.11856T>C (p.Ala3952=) c.11853T>C (p.Ala3951=) c.480T>C c.5240T>C c.11838T>C (p.Ala3946=) c.11868T>C (p.Ala3956=) | |
| 19 | g.38543624T>G | CA507355231 | RYR1 | c.281T>G c.263T>G c.11871T>G (p.Ala3957=) c.11856T>G (p.Ala3952=) c.11853T>G (p.Ala3951=) c.480T>G c.5240T>G c.11838T>G (p.Ala3946=) c.11868T>G (p.Ala3956=) | |
| 19 | g.38543624T= | CA2335074435 | RYR1 | c.281T= c.263T= c.11871T= (p.Ala3957=) c.11856T= (p.Ala3952=) c.11853T= (p.Ala3951=) c.480T= c.5240T= c.11838T= (p.Ala3946=) c.11868T= (p.Ala3956=) | |
| 19 | g.38543624dup | CA2697556582 | RYR1 | c.281dup c.263dup c.11871dup (p.Lys3958Ter) c.11856dup (p.Lys3953Ter) c.11853dup (p.Lys3952Ter) c.480dup c.5240dup c.11838dup (p.Lys3947Ter) c.11868dup (p.Lys3957Ter) | ClinVar |
| 19 | g.38543625A>C | CA405662216 | RYR1 | c.282A>C c.264A>C c.11872A>C (p.Lys3958Gln) c.11857A>C (p.Lys3953Gln) c.11854A>C (p.Lys3952Gln) c.481A>C c.5241A>C c.11839A>C (p.Lys3947Gln) c.11869A>C (p.Lys3957Gln) | |
| 19 | g.38543625A>G | CA405662219 | RYR1 | c.282A>G c.264A>G c.11872A>G (p.Lys3958Glu) c.11857A>G (p.Lys3953Glu) c.11854A>G (p.Lys3952Glu) c.481A>G c.5241A>G c.11839A>G (p.Lys3947Glu) c.11869A>G (p.Lys3957Glu) | |
| 19 | g.38543625A>T | CA405662223 | RYR1 | c.282A>T c.264A>T c.11872A>T (p.Lys3958Ter) c.11857A>T (p.Lys3953Ter) c.11854A>T (p.Lys3952Ter) c.481A>T c.5241A>T c.11839A>T (p.Lys3947Ter) c.11869A>T (p.Lys3957Ter) | |
| 19 | g.38543626A>C | CA405662231 | RYR1 | c.283A>C c.265A>C c.11873A>C (p.Lys3958Thr) c.11858A>C (p.Lys3953Thr) c.11855A>C (p.Lys3952Thr) c.482A>C c.5242A>C c.11840A>C (p.Lys3947Thr) c.11870A>C (p.Lys3957Thr) | |
| 19 | g.38543626A>G | CA405662234 | RYR1 | c.283A>G c.265A>G c.11873A>G (p.Lys3958Arg) c.11858A>G (p.Lys3953Arg) c.11855A>G (p.Lys3952Arg) c.482A>G c.5242A>G c.11840A>G (p.Lys3947Arg) c.11870A>G (p.Lys3957Arg) | |
| 19 | g.38543626A>T | CA405662238 | RYR1 | c.283A>T c.265A>T c.11873A>T (p.Lys3958Met) c.11858A>T (p.Lys3953Met) c.11855A>T (p.Lys3952Met) c.482A>T c.5242A>T c.11840A>T (p.Lys3947Met) c.11870A>T (p.Lys3957Met) | |
| 19 | g.38543627G>A | CA507355240 | RYR1 | c.284G>A c.266G>A c.11874G>A (p.Lys3958=) c.11859G>A (p.Lys3953=) c.11856G>A (p.Lys3952=) c.483G>A c.5243G>A c.11841G>A (p.Lys3947=) c.11871G>A (p.Lys3957=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543627G>C | CA405662246 | RYR1 | c.284G>C c.266G>C c.11874G>C (p.Lys3958Asn) c.11859G>C (p.Lys3953Asn) c.11856G>C (p.Lys3952Asn) c.483G>C c.5243G>C c.11841G>C (p.Lys3947Asn) c.11871G>C (p.Lys3957Asn) | |
| 19 | g.38543627G= | CA2335074436 | RYR1 | c.284G= c.266G= c.11874G= (p.Lys3958=) c.11859G= (p.Lys3953=) c.11856G= (p.Lys3952=) c.483G= c.5243G= c.11841G= (p.Lys3947=) c.11871G= (p.Lys3957=) | |
| 19 | g.38543627G>T | CA405662242 | RYR1 | c.284G>T c.266G>T c.11874G>T (p.Lys3958Asn) c.11859G>T (p.Lys3953Asn) c.11856G>T (p.Lys3952Asn) c.483G>T c.5243G>T c.11841G>T (p.Lys3947Asn) c.11871G>T (p.Lys3957Asn) | |
| 19 | g.38543628C>A | CA405662255 | RYR1 | c.285C>A c.267C>A c.11875C>A (p.Gln3959Lys) c.11860C>A (p.Gln3954Lys) c.11857C>A (p.Gln3953Lys) c.484C>A c.5244C>A c.11842C>A (p.Gln3948Lys) c.11872C>A (p.Gln3958Lys) | |
| 19 | g.38543628C>G | CA405662259 | RYR1 | c.285C>G c.267C>G c.11875C>G (p.Gln3959Glu) c.11860C>G (p.Gln3954Glu) c.11857C>G (p.Gln3953Glu) c.484C>G c.5244C>G c.11842C>G (p.Gln3948Glu) c.11872C>G (p.Gln3958Glu) | |
| 19 | g.38543628C>T | CA405662263 | RYR1 | c.285C>T c.267C>T c.11875C>T (p.Gln3959Ter) c.11860C>T (p.Gln3954Ter) c.11857C>T (p.Gln3953Ter) c.484C>T c.5244C>T c.11842C>T (p.Gln3948Ter) c.11872C>T (p.Gln3958Ter) | |
| 19 | g.38543629A>C | CA405662268 | RYR1 | c.286A>C c.268A>C c.11876A>C (p.Gln3959Pro) c.11861A>C (p.Gln3954Pro) c.11858A>C (p.Gln3953Pro) c.485A>C c.5245A>C c.11843A>C (p.Gln3948Pro) c.11873A>C (p.Gln3958Pro) | |
| 19 | g.38543629A>G | CA405662271 | RYR1 | c.286A>G c.268A>G c.11876A>G (p.Gln3959Arg) c.11861A>G (p.Gln3954Arg) c.11858A>G (p.Gln3953Arg) c.485A>G c.5245A>G c.11843A>G (p.Gln3948Arg) c.11873A>G (p.Gln3958Arg) | gnomAD v4 |
| 19 | g.38543629A>T | CA405662273 | RYR1 | c.286A>T c.268A>T c.11876A>T (p.Gln3959Leu) c.11861A>T (p.Gln3954Leu) c.11858A>T (p.Gln3953Leu) c.485A>T c.5245A>T c.11843A>T (p.Gln3948Leu) c.11873A>T (p.Gln3958Leu) | |
| 19 | g.38543630G>A | CA057731 | RYR1 | c.287G>A c.269G>A c.11877G>A (p.Gln3959=) c.11862G>A (p.Gln3954=) c.11859G>A (p.Gln3953=) c.486G>A c.5246G>A c.11844G>A (p.Gln3948=) c.11874G>A (p.Gln3958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543630G>C | CA405662278 | RYR1 | c.287G>C c.269G>C c.11877G>C (p.Gln3959His) c.11862G>C (p.Gln3954His) c.11859G>C (p.Gln3953His) c.486G>C c.5246G>C c.11844G>C (p.Gln3948His) c.11874G>C (p.Gln3958His) | |
| 19 | g.38543630G= | CA2335074437 | RYR1 | c.287G= c.269G= c.11877G= (p.Gln3959=) c.11862G= (p.Gln3954=) c.11859G= (p.Gln3953=) c.486G= c.5246G= c.11844G= (p.Gln3948=) c.11874G= (p.Gln3958=) | |
| 19 | g.38543630G>T | CA405662280 | RYR1 | c.287G>T c.269G>T c.11877G>T (p.Gln3959His) c.11862G>T (p.Gln3954His) c.11859G>T (p.Gln3953His) c.486G>T c.5246G>T c.11844G>T (p.Gln3948His) c.11874G>T (p.Gln3958His) | |
| 19 | g.38543631G>A | CA405662281 | RYR1 | c.288G>A c.270G>A c.11878G>A (p.Val3960Met) c.11863G>A (p.Val3955Met) c.11860G>A (p.Val3954Met) c.487G>A c.5247G>A c.11845G>A (p.Val3949Met) c.11875G>A (p.Val3959Met) | |
| 19 | g.38543631G>C | CA16620840 | RYR1 | c.288G>C c.270G>C c.11878G>C (p.Val3960Leu) c.11863G>C (p.Val3955Leu) c.11860G>C (p.Val3954Leu) c.487G>C c.5247G>C c.11845G>C (p.Val3949Leu) c.11875G>C (p.Val3959Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543631G= | CA2335074438 | RYR1 | c.288G= c.270G= c.11878G= (p.Val3960=) c.11863G= (p.Val3955=) c.11860G= (p.Val3954=) c.487G= c.5247G= c.11845G= (p.Val3949=) c.11875G= (p.Val3959=) | |
| 19 | g.38543631G>T | CA405662293 | RYR1 | c.288G>T c.270G>T c.11878G>T (p.Val3960Leu) c.11863G>T (p.Val3955Leu) c.11860G>T (p.Val3954Leu) c.487G>T c.5247G>T c.11845G>T (p.Val3949Leu) c.11875G>T (p.Val3959Leu) | |
| 19 | g.38543632T>A | CA405662298 | RYR1 | c.289T>A c.271T>A c.11879T>A (p.Val3960Glu) c.11864T>A (p.Val3955Glu) c.11861T>A (p.Val3954Glu) c.488T>A c.5248T>A c.11846T>A (p.Val3949Glu) c.11876T>A (p.Val3959Glu) | |
| 19 | g.38543632T>C | CA405662313 | RYR1 | c.289T>C c.271T>C c.11879T>C (p.Val3960Ala) c.11864T>C (p.Val3955Ala) c.11861T>C (p.Val3954Ala) c.488T>C c.5248T>C c.11846T>C (p.Val3949Ala) c.11876T>C (p.Val3959Ala) | |
| 19 | g.38543632T>G | CA405662302 | RYR1 | c.289T>G c.271T>G c.11879T>G (p.Val3960Gly) c.11864T>G (p.Val3955Gly) c.11861T>G (p.Val3954Gly) c.488T>G c.5248T>G c.11846T>G (p.Val3949Gly) c.11876T>G (p.Val3959Gly) | |
| 19 | g.38543633G>A | CA080470 | RYR1 | c.290G>A c.272G>A c.11880G>A (p.Val3960=) c.11865G>A (p.Val3955=) c.11862G>A (p.Val3954=) c.489G>A c.5249G>A c.11847G>A (p.Val3949=) c.11877G>A (p.Val3959=) | |
| 19 | g.38543633G>C | CA507355270 | RYR1 | c.290G>C c.272G>C c.11880G>C (p.Val3960=) c.11865G>C (p.Val3955=) c.11862G>C (p.Val3954=) c.489G>C c.5249G>C c.11847G>C (p.Val3949=) c.11877G>C (p.Val3959=) | |
| 19 | g.38543633G>T | CA507355267 | RYR1 | c.290G>T c.272G>T c.11880G>T (p.Val3960=) c.11865G>T (p.Val3955=) c.11862G>T (p.Val3954=) c.489G>T c.5249G>T c.11847G>T (p.Val3949=) c.11877G>T (p.Val3959=) | |
| 19 | g.38543634T>A | CA405662318 | RYR1 | c.291T>A c.273T>A c.11881T>A (p.Phe3961Ile) c.11866T>A (p.Phe3956Ile) c.11863T>A (p.Phe3955Ile) c.490T>A c.5250T>A c.11848T>A (p.Phe3950Ile) c.11878T>A (p.Phe3960Ile) | |
| 19 | g.38543634T>C | CA405662324 | RYR1 | c.291T>C c.273T>C c.11881T>C (p.Phe3961Leu) c.11866T>C (p.Phe3956Leu) c.11863T>C (p.Phe3955Leu) c.490T>C c.5250T>C c.11848T>C (p.Phe3950Leu) c.11878T>C (p.Phe3960Leu) | |
| 19 | g.38543634T>G | CA405662322 | RYR1 | c.291T>G c.273T>G c.11881T>G (p.Phe3961Val) c.11866T>G (p.Phe3956Val) c.11863T>G (p.Phe3955Val) c.490T>G c.5250T>G c.11848T>G (p.Phe3950Val) c.11878T>G (p.Phe3960Val) | |
| 19 | g.38543635T>A | CA405662326 | RYR1 | c.292T>A c.274T>A c.11882T>A (p.Phe3961Tyr) c.11867T>A (p.Phe3956Tyr) c.11864T>A (p.Phe3955Tyr) c.491T>A c.5251T>A c.11849T>A (p.Phe3950Tyr) c.11879T>A (p.Phe3960Tyr) | |
| 19 | g.38543635T>C | CA405662327 | RYR1 | c.292T>C c.274T>C c.11882T>C (p.Phe3961Ser) c.11867T>C (p.Phe3956Ser) c.11864T>C (p.Phe3955Ser) c.491T>C c.5251T>C c.11849T>C (p.Phe3950Ser) c.11879T>C (p.Phe3960Ser) | |
| 19 | g.38543635T>G | CA405662328 | RYR1 | c.292T>G c.274T>G c.11882T>G (p.Phe3961Cys) c.11867T>G (p.Phe3956Cys) c.11864T>G (p.Phe3955Cys) c.491T>G c.5251T>G c.11849T>G (p.Phe3950Cys) c.11879T>G (p.Phe3960Cys) | gnomAD v4 |
| 19 | g.38543636C>A | CA405662329 | RYR1 | c.293C>A c.275C>A c.11883C>A (p.Phe3961Leu) c.11868C>A (p.Phe3956Leu) c.11865C>A (p.Phe3955Leu) c.492C>A c.5252C>A c.11850C>A (p.Phe3950Leu) c.11880C>A (p.Phe3960Leu) | |
| 19 | g.38543636C>G | CA405662332 | RYR1 | c.293C>G c.275C>G c.11883C>G (p.Phe3961Leu) c.11868C>G (p.Phe3956Leu) c.11865C>G (p.Phe3955Leu) c.492C>G c.5252C>G c.11850C>G (p.Phe3950Leu) c.11880C>G (p.Phe3960Leu) | |
| 19 | g.38543636C>T | CA507355280 | RYR1 | c.293C>T c.275C>T c.11883C>T (p.Phe3961=) c.11868C>T (p.Phe3956=) c.11865C>T (p.Phe3955=) c.492C>T c.5252C>T c.11850C>T (p.Phe3950=) c.11880C>T (p.Phe3960=) | |
| 19 | g.38543637A>C | CA405662334 | RYR1 | c.294A>C c.276A>C c.11884A>C (p.Asn3962His) c.11869A>C (p.Asn3957His) c.11866A>C (p.Asn3956His) c.493A>C c.5253A>C c.11851A>C (p.Asn3951His) c.11881A>C (p.Asn3961His) | |
| 19 | g.38543637A>G | CA405662338 | RYR1 | c.294A>G c.276A>G c.11884A>G (p.Asn3962Asp) c.11869A>G (p.Asn3957Asp) c.11866A>G (p.Asn3956Asp) c.493A>G c.5253A>G c.11851A>G (p.Asn3951Asp) c.11881A>G (p.Asn3961Asp) | |
| 19 | g.38543637A>T | CA405662350 | RYR1 | c.294A>T c.276A>T c.11884A>T (p.Asn3962Tyr) c.11869A>T (p.Asn3957Tyr) c.11866A>T (p.Asn3956Tyr) c.493A>T c.5253A>T c.11851A>T (p.Asn3951Tyr) c.11881A>T (p.Asn3961Tyr) | |
| 19 | g.38543638A= | CA2335074439 | RYR1 | c.295A= c.277A= c.11885A= (p.Asn3962=) c.11870A= (p.Asn3957=) c.11867A= (p.Asn3956=) c.494A= c.5254A= c.11852A= (p.Asn3951=) c.11882A= (p.Asn3961=) | |
| 19 | g.38543638A>C | CA405662354 | RYR1 | c.295A>C c.277A>C c.11885A>C (p.Asn3962Thr) c.11870A>C (p.Asn3957Thr) c.11867A>C (p.Asn3956Thr) c.494A>C c.5254A>C c.11852A>C (p.Asn3951Thr) c.11882A>C (p.Asn3961Thr) | |
| 19 | g.38543638A>G | CA308092185 | RYR1 | c.295A>G c.277A>G c.11885A>G (p.Asn3962Ser) c.11870A>G (p.Asn3957Ser) c.11867A>G (p.Asn3956Ser) c.494A>G c.5254A>G c.11852A>G (p.Asn3951Ser) c.11882A>G (p.Asn3961Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543638A>T | CA405662359 | RYR1 | c.295A>T c.277A>T c.11885A>T (p.Asn3962Ile) c.11870A>T (p.Asn3957Ile) c.11867A>T (p.Asn3956Ile) c.494A>T c.5254A>T c.11852A>T (p.Asn3951Ile) c.11882A>T (p.Asn3961Ile) | |
| 19 | g.38543639C>A | CA405662363 | RYR1 | c.296C>A c.278C>A c.11886C>A (p.Asn3962Lys) c.11871C>A (p.Asn3957Lys) c.11868C>A (p.Asn3956Lys) c.495C>A c.5255C>A c.11853C>A (p.Asn3951Lys) c.11883C>A (p.Asn3961Lys) | |
| 19 | g.38543639C>G | CA405662364 | RYR1 | c.296C>G c.278C>G c.11886C>G (p.Asn3962Lys) c.11871C>G (p.Asn3957Lys) c.11868C>G (p.Asn3956Lys) c.495C>G c.5255C>G c.11853C>G (p.Asn3951Lys) c.11883C>G (p.Asn3961Lys) | |
| 19 | g.38543639C>T | CA507355294 | RYR1 | c.296C>T c.278C>T c.11886C>T (p.Asn3962=) c.11871C>T (p.Asn3957=) c.11868C>T (p.Asn3956=) c.495C>T c.5255C>T c.11853C>T (p.Asn3951=) c.11883C>T (p.Asn3961=) | |
| 19 | g.38543640A>C | CA405662367 | RYR1 | c.297A>C c.279A>C c.11887A>C (p.Ser3963Arg) c.11872A>C (p.Ser3958Arg) c.11869A>C (p.Ser3957Arg) c.496A>C c.5256A>C c.11854A>C (p.Ser3952Arg) c.11884A>C (p.Ser3962Arg) | |
| 19 | g.38543640A>G | CA405662375 | RYR1 | c.297A>G c.279A>G c.11887A>G (p.Ser3963Gly) c.11872A>G (p.Ser3958Gly) c.11869A>G (p.Ser3957Gly) c.496A>G c.5256A>G c.11854A>G (p.Ser3952Gly) c.11884A>G (p.Ser3962Gly) | |
| 19 | g.38543640A>T | CA405662371 | RYR1 | c.297A>T c.279A>T c.11887A>T (p.Ser3963Cys) c.11872A>T (p.Ser3958Cys) c.11869A>T (p.Ser3957Cys) c.496A>T c.5256A>T c.11854A>T (p.Ser3952Cys) c.11884A>T (p.Ser3962Cys) | |
| 19 | g.38543641G>A | CA405662377 | RYR1 | c.298G>A c.280G>A c.11888G>A (p.Ser3963Asn) c.11873G>A (p.Ser3958Asn) c.11870G>A (p.Ser3957Asn) c.497G>A c.5257G>A c.11855G>A (p.Ser3952Asn) c.11885G>A (p.Ser3962Asn) | |
| 19 | g.38543641G>C | CA405662382 | RYR1 | c.298G>C c.280G>C c.11888G>C (p.Ser3963Thr) c.11873G>C (p.Ser3958Thr) c.11870G>C (p.Ser3957Thr) c.497G>C c.5257G>C c.11855G>C (p.Ser3952Thr) c.11885G>C (p.Ser3962Thr) | ClinVar dbSNP |
| 19 | g.38543641G>T | CA405662385 | RYR1 | c.298G>T c.280G>T c.11888G>T (p.Ser3963Ile) c.11873G>T (p.Ser3958Ile) c.11870G>T (p.Ser3957Ile) c.497G>T c.5257G>T c.11855G>T (p.Ser3952Ile) c.11885G>T (p.Ser3962Ile) | |
| 19 | g.38543642C>A | CA405662391 | RYR1 | c.299C>A c.281C>A c.11889C>A (p.Ser3963Arg) c.11874C>A (p.Ser3958Arg) c.11871C>A (p.Ser3957Arg) c.498C>A c.5258C>A c.11856C>A (p.Ser3952Arg) c.11886C>A (p.Ser3962Arg) | |
| 19 | g.38543642C>G | CA405662394 | RYR1 | c.299C>G c.281C>G c.11889C>G (p.Ser3963Arg) c.11874C>G (p.Ser3958Arg) c.11871C>G (p.Ser3957Arg) c.498C>G c.5258C>G c.11856C>G (p.Ser3952Arg) c.11886C>G (p.Ser3962Arg) | |
| 19 | g.38543642C>T | CA507355307 | RYR1 | c.299C>T c.281C>T c.11889C>T (p.Ser3963=) c.11874C>T (p.Ser3958=) c.11871C>T (p.Ser3957=) c.498C>T c.5258C>T c.11856C>T (p.Ser3952=) c.11886C>T (p.Ser3962=) | |
| 19 | g.38543643C>A | CA405662397 | RYR1 | c.300C>A c.282C>A c.11890C>A (p.Leu3964Ile) c.11875C>A (p.Leu3959Ile) c.11872C>A (p.Leu3958Ile) c.499C>A c.5259C>A c.11857C>A (p.Leu3953Ile) c.11887C>A (p.Leu3963Ile) | |
| 19 | g.38543643C>G | CA405662408 | RYR1 | c.300C>G c.282C>G c.11890C>G (p.Leu3964Val) c.11875C>G (p.Leu3959Val) c.11872C>G (p.Leu3958Val) c.499C>G c.5259C>G c.11857C>G (p.Leu3953Val) c.11887C>G (p.Leu3963Val) | |
| 19 | g.38543643C>T | CA405662413 | RYR1 | c.300C>T c.282C>T c.11890C>T (p.Leu3964Phe) c.11875C>T (p.Leu3959Phe) c.11872C>T (p.Leu3958Phe) c.499C>T c.5259C>T c.11857C>T (p.Leu3953Phe) c.11887C>T (p.Leu3963Phe) | |
| 19 | g.38543644T>A | CA405662421 | RYR1 | c.301T>A c.283T>A c.11891T>A (p.Leu3964His) c.11876T>A (p.Leu3959His) c.11873T>A (p.Leu3958His) c.500T>A c.5260T>A c.11858T>A (p.Leu3953His) c.11888T>A (p.Leu3963His) | |
| 19 | g.38543644T>C | CA405662434 | RYR1 | c.301T>C c.283T>C c.11891T>C (p.Leu3964Pro) c.11876T>C (p.Leu3959Pro) c.11873T>C (p.Leu3958Pro) c.500T>C c.5260T>C c.11858T>C (p.Leu3953Pro) c.11888T>C (p.Leu3963Pro) | |
| 19 | g.38543644T>G | CA405662437 | RYR1 | c.301T>G c.283T>G c.11891T>G (p.Leu3964Arg) c.11876T>G (p.Leu3959Arg) c.11873T>G (p.Leu3958Arg) c.500T>G c.5260T>G c.11858T>G (p.Leu3953Arg) c.11888T>G (p.Leu3963Arg) | |
| 19 | g.38543645C>A | CA507355311 | RYR1 | c.302C>A c.284C>A c.11892C>A (p.Leu3964=) c.11877C>A (p.Leu3959=) c.11874C>A (p.Leu3958=) c.501C>A c.5261C>A c.11859C>A (p.Leu3953=) c.11889C>A (p.Leu3963=) | |
| 19 | g.38543645C= | CA2335074440 | RYR1 | c.302C= c.284C= c.11892C= (p.Leu3964=) c.11877C= (p.Leu3959=) c.11874C= (p.Leu3958=) c.501C= c.5261C= c.11859C= (p.Leu3953=) c.11889C= (p.Leu3963=) | |
| 19 | g.38543645C>G | CA507355312 | RYR1 | c.302C>G c.284C>G c.11892C>G (p.Leu3964=) c.11877C>G (p.Leu3959=) c.11874C>G (p.Leu3958=) c.501C>G c.5261C>G c.11859C>G (p.Leu3953=) c.11889C>G (p.Leu3963=) | |
| 19 | g.38543645C>T | CA057744 | RYR1 | c.302C>T c.284C>T c.11892C>T (p.Leu3964=) c.11877C>T (p.Leu3959=) c.11874C>T (p.Leu3958=) c.501C>T c.5261C>T c.11859C>T (p.Leu3953=) c.11889C>T (p.Leu3963=) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38543646A= | CA2335074441 | RYR1 | c.303A= c.285A= c.11893A= (p.Thr3965=) c.11878A= (p.Thr3960=) c.11875A= (p.Thr3959=) c.502A= c.5262A= c.11860A= (p.Thr3954=) c.11890A= (p.Thr3964=) | |
| 19 | g.38543646A>C | CA405662455 | RYR1 | c.303A>C c.285A>C c.11893A>C (p.Thr3965Pro) c.11878A>C (p.Thr3960Pro) c.11875A>C (p.Thr3959Pro) c.502A>C c.5262A>C c.11860A>C (p.Thr3954Pro) c.11890A>C (p.Thr3964Pro) | gnomAD v4 |
| 19 | g.38543646A>G | CA405662445 | RYR1 | c.303A>G c.285A>G c.11893A>G (p.Thr3965Ala) c.11878A>G (p.Thr3960Ala) c.11875A>G (p.Thr3959Ala) c.502A>G c.5262A>G c.11860A>G (p.Thr3954Ala) c.11890A>G (p.Thr3964Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543646A>T | CA405662452 | RYR1 | c.303A>T c.285A>T c.11893A>T (p.Thr3965Ser) c.11878A>T (p.Thr3960Ser) c.11875A>T (p.Thr3959Ser) c.502A>T c.5262A>T c.11860A>T (p.Thr3954Ser) c.11890A>T (p.Thr3964Ser) | |
| 19 | g.38543647C>A | CA405662457 | RYR1 | c.304C>A c.286C>A c.11894C>A (p.Thr3965Asn) c.11879C>A (p.Thr3960Asn) c.11876C>A (p.Thr3959Asn) c.503C>A c.5263C>A c.11861C>A (p.Thr3954Asn) c.11891C>A (p.Thr3964Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543647C= | CA2335074442 | RYR1 | c.304C= c.286C= c.11894C= (p.Thr3965=) c.11879C= (p.Thr3960=) c.11876C= (p.Thr3959=) c.503C= c.5263C= c.11861C= (p.Thr3954=) c.11891C= (p.Thr3964=) | |
| 19 | g.38543647C>G | CA405662461 | RYR1 | c.304C>G c.286C>G c.11894C>G (p.Thr3965Ser) c.11879C>G (p.Thr3960Ser) c.11876C>G (p.Thr3959Ser) c.503C>G c.5263C>G c.11861C>G (p.Thr3954Ser) c.11891C>G (p.Thr3964Ser) | |
| 19 | g.38543647C>T | CA405662464 | RYR1 | c.304C>T c.286C>T c.11894C>T (p.Thr3965Ile) c.11879C>T (p.Thr3960Ile) c.11876C>T (p.Thr3959Ile) c.503C>T c.5263C>T c.11861C>T (p.Thr3954Ile) c.11891C>T (p.Thr3964Ile) | |
| 19 | g.38543648T>A | CA507355314 | RYR1 | c.305T>A c.287T>A c.11895T>A (p.Thr3965=) c.11880T>A (p.Thr3960=) c.11877T>A (p.Thr3959=) c.504T>A c.5264T>A c.11862T>A (p.Thr3954=) c.11892T>A (p.Thr3964=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38543648T>C | CA507355315 | RYR1 | c.305T>C c.287T>C c.11895T>C (p.Thr3965=) c.11880T>C (p.Thr3960=) c.11877T>C (p.Thr3959=) c.504T>C c.5264T>C c.11862T>C (p.Thr3954=) c.11892T>C (p.Thr3964=) | |
| 19 | g.38543648T>G | CA507355317 | RYR1 | c.305T>G c.287T>G c.11895T>G (p.Thr3965=) c.11880T>G (p.Thr3960=) c.11877T>G (p.Thr3959=) c.504T>G c.5264T>G c.11862T>G (p.Thr3954=) c.11892T>G (p.Thr3964=) | |
| 19 | g.38543648T= | CA2335074443 | RYR1 | c.305T= c.287T= c.11895T= (p.Thr3965=) c.11880T= (p.Thr3960=) c.11877T= (p.Thr3959=) c.504T= c.5264T= c.11862T= (p.Thr3954=) c.11892T= (p.Thr3964=) | |
| 19 | g.38543648_38543649del | CA2697556583 | RYR1 | c.305_306del c.287_288del c.11895_11896del (p.Glu3966ValfsTer?) c.11880_11881del (p.Glu3961ValfsTer?) c.11877_11878del (p.Glu3960ValfsTer?) c.504_505del c.5264_5265del c.11862_11863del (p.Glu3955ValfsTer?) c.11892_11893del (p.Glu3965ValfsTer?) | ClinVar |
| 19 | g.38543649G>A | CA405662469 | RYR1 | c.306G>A c.288G>A c.11896G>A (p.Glu3966Lys) c.11881G>A (p.Glu3961Lys) c.11878G>A (p.Glu3960Lys) c.505G>A c.5265G>A c.11863G>A (p.Glu3955Lys) c.11893G>A (p.Glu3965Lys) | |
| 19 | g.38543649G>C | CA405662477 | RYR1 | c.306G>C c.288G>C c.11896G>C (p.Glu3966Gln) c.11881G>C (p.Glu3961Gln) c.11878G>C (p.Glu3960Gln) c.505G>C c.5265G>C c.11863G>C (p.Glu3955Gln) c.11893G>C (p.Glu3965Gln) | |
| 19 | g.38543649G>T | CA405662479 | RYR1 | c.306G>T c.288G>T c.11896G>T (p.Glu3966Ter) c.11881G>T (p.Glu3961Ter) c.11878G>T (p.Glu3960Ter) c.505G>T c.5265G>T c.11863G>T (p.Glu3955Ter) c.11893G>T (p.Glu3965Ter) | |
| 19 | g.38543650A>C | CA405662483 | RYR1 | c.307A>C c.289A>C c.11897A>C (p.Glu3966Ala) c.11882A>C (p.Glu3961Ala) c.11879A>C (p.Glu3960Ala) c.506A>C c.5266A>C c.11864A>C (p.Glu3955Ala) c.11894A>C (p.Glu3965Ala) | |
| 19 | g.38543650A>G | CA405662486 | RYR1 | c.307A>G c.289A>G c.11897A>G (p.Glu3966Gly) c.11882A>G (p.Glu3961Gly) c.11879A>G (p.Glu3960Gly) c.506A>G c.5266A>G c.11864A>G (p.Glu3955Gly) c.11894A>G (p.Glu3965Gly) | |
| 19 | g.38543650A>T | CA405662490 | RYR1 | c.307A>T c.289A>T c.11897A>T (p.Glu3966Val) c.11882A>T (p.Glu3961Val) c.11879A>T (p.Glu3960Val) c.506A>T c.5266A>T c.11864A>T (p.Glu3955Val) c.11894A>T (p.Glu3965Val) | |
| 19 | g.38543651G>A | CA507355320 | RYR1 | c.308G>A c.290G>A c.11898G>A (p.Glu3966=) c.11883G>A (p.Glu3961=) c.11880G>A (p.Glu3960=) c.507G>A c.5267G>A c.11865G>A (p.Glu3955=) c.11895G>A (p.Glu3965=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543651G>C | CA405662495 | RYR1 | c.308G>C c.290G>C c.11898G>C (p.Glu3966Asp) c.11883G>C (p.Glu3961Asp) c.11880G>C (p.Glu3960Asp) c.507G>C c.5267G>C c.11865G>C (p.Glu3955Asp) c.11895G>C (p.Glu3965Asp) | |
| 19 | g.38543651G= | CA2335074444 | RYR1 | c.308G= c.290G= c.11898G= (p.Glu3966=) c.11883G= (p.Glu3961=) c.11880G= (p.Glu3960=) c.507G= c.5267G= c.11865G= (p.Glu3955=) c.11895G= (p.Glu3965=) | |
| 19 | g.38543651G>T | CA405662498 | RYR1 | c.308G>T c.290G>T c.11898G>T (p.Glu3966Asp) c.11883G>T (p.Glu3961Asp) c.11880G>T (p.Glu3960Asp) c.507G>T c.5267G>T c.11865G>T (p.Glu3955Asp) c.11895G>T (p.Glu3965Asp) | |
| 19 | g.38543652T>A | CA405662506 | RYR1 | c.309T>A c.291T>A c.11899T>A (p.Tyr3967Asn) c.11884T>A (p.Tyr3962Asn) c.11881T>A (p.Tyr3961Asn) c.508T>A c.5268T>A c.11866T>A (p.Tyr3956Asn) c.11896T>A (p.Tyr3966Asn) | |
| 19 | g.38543652T>C | CA405662502 | RYR1 | c.309T>C c.291T>C c.11899T>C (p.Tyr3967His) c.11884T>C (p.Tyr3962His) c.11881T>C (p.Tyr3961His) c.508T>C c.5268T>C c.11866T>C (p.Tyr3956His) c.11896T>C (p.Tyr3966His) | |
| 19 | g.38543652T>G | CA405662505 | RYR1 | c.309T>G c.291T>G c.11899T>G (p.Tyr3967Asp) c.11884T>G (p.Tyr3962Asp) c.11881T>G (p.Tyr3961Asp) c.508T>G c.5268T>G c.11866T>G (p.Tyr3956Asp) c.11896T>G (p.Tyr3966Asp) | |
| 19 | g.38543653A>C | CA405662507 | RYR1 | c.310A>C c.292A>C c.11900A>C (p.Tyr3967Ser) c.11885A>C (p.Tyr3962Ser) c.11882A>C (p.Tyr3961Ser) c.509A>C c.5269A>C c.11867A>C (p.Tyr3956Ser) c.11897A>C (p.Tyr3966Ser) | |
| 19 | g.38543653A>G | CA405662508 | RYR1 | c.310A>G c.292A>G c.11900A>G (p.Tyr3967Cys) c.11885A>G (p.Tyr3962Cys) c.11882A>G (p.Tyr3961Cys) c.509A>G c.5269A>G c.11867A>G (p.Tyr3956Cys) c.11897A>G (p.Tyr3966Cys) | |
| 19 | g.38543653A>T | CA405662509 | RYR1 | c.310A>T c.292A>T c.11900A>T (p.Tyr3967Phe) c.11885A>T (p.Tyr3962Phe) c.11882A>T (p.Tyr3961Phe) c.509A>T c.5269A>T c.11867A>T (p.Tyr3956Phe) c.11897A>T (p.Tyr3966Phe) | |
| 19 | g.38543654C>A | CA405662510 | RYR1 | c.311C>A c.293C>A c.11901C>A (p.Tyr3967Ter) c.11886C>A (p.Tyr3962Ter) c.11883C>A (p.Tyr3961Ter) c.510C>A c.5270C>A c.11868C>A (p.Tyr3956Ter) c.11898C>A (p.Tyr3966Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543654C= | CA2335074445 | RYR1 | c.311C= c.293C= c.11901C= (p.Tyr3967=) c.11886C= (p.Tyr3962=) c.11883C= (p.Tyr3961=) c.510C= c.5270C= c.11868C= (p.Tyr3956=) c.11898C= (p.Tyr3966=) | |
| 19 | g.38543654C>G | CA405662531 | RYR1 | c.311C>G c.293C>G c.11901C>G (p.Tyr3967Ter) c.11886C>G (p.Tyr3962Ter) c.11883C>G (p.Tyr3961Ter) c.510C>G c.5270C>G c.11868C>G (p.Tyr3956Ter) c.11898C>G (p.Tyr3966Ter) | |
| 19 | g.38543654C>T | CA507355323 | RYR1 | c.311C>T c.293C>T c.11901C>T (p.Tyr3967=) c.11886C>T (p.Tyr3962=) c.11883C>T (p.Tyr3961=) c.510C>T c.5270C>T c.11868C>T (p.Tyr3956=) c.11898C>T (p.Tyr3966=) | |
| 19 | g.38543655A= | CA2335074446 | RYR1 | c.312A= c.294A= c.11902A= (p.Ile3968=) c.11887A= (p.Ile3963=) c.11884A= (p.Ile3962=) c.511A= c.5271A= c.11869A= (p.Ile3957=) c.11899A= (p.Ile3967=) | |
| 19 | g.38543655A>C | CA057760 | RYR1 | c.312A>C c.294A>C c.11902A>C (p.Ile3968Leu) c.11887A>C (p.Ile3963Leu) c.11884A>C (p.Ile3962Leu) c.511A>C c.5271A>C c.11869A>C (p.Ile3957Leu) c.11899A>C (p.Ile3967Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543655A>G | CA405662539 | RYR1 | c.312A>G c.294A>G c.11902A>G (p.Ile3968Val) c.11887A>G (p.Ile3963Val) c.11884A>G (p.Ile3962Val) c.511A>G c.5271A>G c.11869A>G (p.Ile3957Val) c.11899A>G (p.Ile3967Val) | |
| 19 | g.38543655A>T | CA405662542 | RYR1 | c.312A>T c.294A>T c.11902A>T (p.Ile3968Phe) c.11887A>T (p.Ile3963Phe) c.11884A>T (p.Ile3962Phe) c.511A>T c.5271A>T c.11869A>T (p.Ile3957Phe) c.11899A>T (p.Ile3967Phe) | |
| 19 | g.38543656T>A | CA405662546 | RYR1 | c.313T>A c.295T>A c.11903T>A (p.Ile3968Asn) c.11888T>A (p.Ile3963Asn) c.11885T>A (p.Ile3962Asn) c.512T>A c.5272T>A c.11870T>A (p.Ile3957Asn) c.11900T>A (p.Ile3967Asn) | |
| 19 | g.38543656T>C | CA405662548 | RYR1 | c.313T>C c.295T>C c.11903T>C (p.Ile3968Thr) c.11888T>C (p.Ile3963Thr) c.11885T>C (p.Ile3962Thr) c.512T>C c.5272T>C c.11870T>C (p.Ile3957Thr) c.11900T>C (p.Ile3967Thr) | |
| 19 | g.38543656T>G | CA405662552 | RYR1 | c.313T>G c.295T>G c.11903T>G (p.Ile3968Ser) c.11888T>G (p.Ile3963Ser) c.11885T>G (p.Ile3962Ser) c.512T>G c.5272T>G c.11870T>G (p.Ile3957Ser) c.11900T>G (p.Ile3967Ser) | |
| 19 | g.38543657C>A | CA507355324 | RYR1 | c.314C>A c.296C>A c.11904C>A (p.Ile3968=) c.11889C>A (p.Ile3963=) c.11886C>A (p.Ile3962=) c.513C>A c.5273C>A c.11871C>A (p.Ile3957=) c.11901C>A (p.Ile3967=) | |
| 19 | g.38543657C>G | CA405662555 | RYR1 | c.314C>G c.296C>G c.11904C>G (p.Ile3968Met) c.11889C>G (p.Ile3963Met) c.11886C>G (p.Ile3962Met) c.513C>G c.5273C>G c.11871C>G (p.Ile3957Met) c.11901C>G (p.Ile3967Met) | gnomAD v4 |
| 19 | g.38543657C>T | CA507355325 | RYR1 | c.314C>T c.296C>T c.11904C>T (p.Ile3968=) c.11889C>T (p.Ile3963=) c.11886C>T (p.Ile3962=) c.513C>T c.5273C>T c.11871C>T (p.Ile3957=) c.11901C>T (p.Ile3967=) | gnomAD v4 |
| 19 | g.38543658C>A | CA405662559 | RYR1 | c.315C>A c.297C>A c.11905C>A (p.Gln3969Lys) c.11890C>A (p.Gln3964Lys) c.11887C>A (p.Gln3963Lys) c.514C>A c.5274C>A c.11872C>A (p.Gln3958Lys) c.11902C>A (p.Gln3968Lys) | ClinVar dbSNP |
| 19 | g.38543658C= | CA2335074447 | RYR1 | c.315C= c.297C= c.11905C= (p.Gln3969=) c.11890C= (p.Gln3964=) c.11887C= (p.Gln3963=) c.514C= c.5274C= c.11872C= (p.Gln3958=) c.11902C= (p.Gln3968=) | |
| 19 | g.38543658C>G | CA405662565 | RYR1 | c.315C>G c.297C>G c.11905C>G (p.Gln3969Glu) c.11890C>G (p.Gln3964Glu) c.11887C>G (p.Gln3963Glu) c.514C>G c.5274C>G c.11872C>G (p.Gln3958Glu) c.11902C>G (p.Gln3968Glu) | |
| 19 | g.38543658C>T | CA057763 | RYR1 | c.315C>T c.297C>T c.11905C>T (p.Gln3969Ter) c.11890C>T (p.Gln3964Ter) c.11887C>T (p.Gln3963Ter) c.514C>T c.5274C>T c.11872C>T (p.Gln3958Ter) c.11902C>T (p.Gln3968Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543659A= | CA2335074448 | RYR1 | c.316A= c.298A= c.11906A= (p.Gln3969=) c.11891A= (p.Gln3964=) c.11888A= (p.Gln3963=) c.515A= c.5275A= c.11873A= (p.Gln3958=) c.11903A= (p.Gln3968=) | |
| 19 | g.38543659A>C | CA405662566 | RYR1 | c.316A>C c.298A>C c.11906A>C (p.Gln3969Pro) c.11891A>C (p.Gln3964Pro) c.11888A>C (p.Gln3963Pro) c.515A>C c.5275A>C c.11873A>C (p.Gln3958Pro) c.11903A>C (p.Gln3968Pro) | |
| 19 | g.38543659A>G | CA405662568 | RYR1 | c.316A>G c.298A>G c.11906A>G (p.Gln3969Arg) c.11891A>G (p.Gln3964Arg) c.11888A>G (p.Gln3963Arg) c.515A>G c.5275A>G c.11873A>G (p.Gln3958Arg) c.11903A>G (p.Gln3968Arg) | ClinVar dbSNP |
| 19 | g.38543659A>T | CA405662567 | RYR1 | c.316A>T c.298A>T c.11906A>T (p.Gln3969Leu) c.11891A>T (p.Gln3964Leu) c.11888A>T (p.Gln3963Leu) c.515A>T c.5275A>T c.11873A>T (p.Gln3958Leu) c.11903A>T (p.Gln3968Leu) | |
| 19 | g.38543660G>A | CA507355326 | RYR1 | c.317G>A c.299G>A c.11907G>A (p.Gln3969=) c.11892G>A (p.Gln3964=) c.11889G>A (p.Gln3963=) c.516G>A c.5276G>A c.11874G>A (p.Gln3958=) c.11904G>A (p.Gln3968=) | gnomAD v4 |
| 19 | g.38543660G>C | CA405662570 | RYR1 | c.317G>C c.299G>C c.11907G>C (p.Gln3969His) c.11892G>C (p.Gln3964His) c.11889G>C (p.Gln3963His) c.516G>C c.5276G>C c.11874G>C (p.Gln3958His) c.11904G>C (p.Gln3968His) | |
| 19 | g.38543660G>T | CA405662572 | RYR1 | c.317G>T c.299G>T c.11907G>T (p.Gln3969His) c.11892G>T (p.Gln3964His) c.11889G>T (p.Gln3963His) c.516G>T c.5276G>T c.11874G>T (p.Gln3958His) c.11904G>T (p.Gln3968His) | |
| 19 | g.38543661G>A | CA405662574 | RYR1 | c.317+1G>A c.299+1G>A c.11907+1G>A (n.11907+1G>A) c.11892+1G>A (n.11892+1G>A) c.11889+1G>A (n.11889+1G>A) c.516+1G>A c.5276+1G>A c.11874+1G>A (n.11874+1G>A) c.11904+1G>A (n.11904+1G>A) | |
| 19 | g.38543661G>C | CA405662577 | RYR1 | c.317+1G>C c.299+1G>C c.11907+1G>C (n.11907+1G>C) c.11892+1G>C (n.11892+1G>C) c.11889+1G>C (n.11889+1G>C) c.516+1G>C c.5276+1G>C c.11874+1G>C (n.11874+1G>C) c.11904+1G>C (n.11904+1G>C) | |
| 19 | g.38543661G>T | CA405662585 | RYR1 | c.317+1G>T c.299+1G>T c.11907+1G>T (n.11907+1G>T) c.11892+1G>T (n.11892+1G>T) c.11889+1G>T (n.11889+1G>T) c.516+1G>T c.5276+1G>T c.11874+1G>T (n.11874+1G>T) c.11904+1G>T (n.11904+1G>T) | |
| 19 | g.38543662T>A | CA405662590 | RYR1 | c.317+2T>A c.299+2T>A c.11907+2T>A (n.11907+2T>A) c.11892+2T>A (n.11892+2T>A) c.11889+2T>A (n.11889+2T>A) c.516+2T>A c.5276+2T>A c.11874+2T>A (n.11874+2T>A) c.11904+2T>A (n.11904+2T>A) | |
| 19 | g.38543662T>C | CA405662593 | RYR1 | c.317+2T>C c.299+2T>C c.11907+2T>C (n.11907+2T>C) c.11892+2T>C (n.11892+2T>C) c.11889+2T>C (n.11889+2T>C) c.516+2T>C c.5276+2T>C c.11874+2T>C (n.11874+2T>C) c.11904+2T>C (n.11904+2T>C) | |
| 19 | g.38543662T>G | CA405662596 | RYR1 | c.317+2T>G c.299+2T>G c.11907+2T>G (n.11907+2T>G) c.11892+2T>G (n.11892+2T>G) c.11889+2T>G (n.11889+2T>G) c.516+2T>G c.5276+2T>G c.11874+2T>G (n.11874+2T>G) c.11904+2T>G (n.11904+2T>G) | |
| 19 | g.38543663A>G | CA2814346184 | RYR1 | c.317+3A>G c.299+3A>G c.11907+3A>G (n.11907+3A>G) c.11892+3A>G (n.11892+3A>G) c.11889+3A>G (n.11889+3A>G) c.516+3A>G c.5276+3A>G c.11874+3A>G (n.11874+3A>G) c.11904+3A>G (n.11904+3A>G) | |
| 19 | g.38543663_38543676delinsAGGGCGCTCCCCCT | CA2335074449 | RYR1 | c.317+3_317+16delinsAGGGCGCTCCCCCT c.299+3_299+16delinsAGGGCGCTCCCCCT c.11907+3_11907+16delinsAGGGCGCTCCCCCT (n.11907+3_11907+16delinsAGGGCGCTCCCCCT) c.11892+3_11892+16delinsAGGGCGCTCCCCCT (n.11892+3_11892+16delinsAGGGCGCTCCCCCT) c.11889+3_11889+16delinsAGGGCGCTCCCCCT (n.11889+3_11889+16delinsAGGGCGCTCCCCCT) c.516+3_516+16delinsAGGGCGCTCCCCCT c.5276+3_5276+16delinsAGGGCGCTCCCCCT c.11874+3_11874+16delinsAGGGCGCTCCCCCT (n.11874+3_11874+16delinsAGGGCGCTCCCCCT) c.11904+3_11904+16delinsAGGGCGCTCCCCCT (n.11904+3_11904+16delinsAGGGCGCTCCCCCT) | |
| 19 | g.38543667_38543679del | CA658799206 | RYR1 | c.317+7_317+19del c.299+7_299+19del c.11907+7_11907+19del (n.11907+7_11907+19del) c.11892+7_11892+19del (n.11892+7_11892+19del) c.11889+7_11889+19del (n.11889+7_11889+19del) c.516+7_516+19del c.5276+7_5276+19del c.11874+7_11874+19del (n.11874+7_11874+19del) c.11904+7_11904+19del (n.11904+7_11904+19del) | ClinVar dbSNP |
| 19 | g.38543665G>A | CA632869687 | RYR1 | c.317+5G>A c.299+5G>A c.11907+5G>A (n.11907+5G>A) c.11892+5G>A (n.11892+5G>A) c.11889+5G>A (n.11889+5G>A) c.516+5G>A c.5276+5G>A c.11874+5G>A (n.11874+5G>A) c.11904+5G>A (n.11904+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543665G= | CA2335074450 | RYR1 | c.317+5G= c.299+5G= c.11907+5G= (n.11907+5G=) c.11892+5G= (n.11892+5G=) c.11889+5G= (n.11889+5G=) c.516+5G= c.5276+5G= c.11874+5G= (n.11874+5G=) c.11904+5G= (n.11904+5G=) | |
| 19 | g.38543666G>T | CA2582145630 | RYR1 | c.317+6G>T c.299+6G>T c.11907+6G>T (n.11907+6G>T) c.11892+6G>T (n.11892+6G>T) c.11889+6G>T (n.11889+6G>T) c.516+6G>T c.5276+6G>T c.11874+6G>T (n.11874+6G>T) c.11904+6G>T (n.11904+6G>T) | gnomAD v3 gnomAD v4 |
| 19 | g.38543666_38543667delinsGC | CA2335074451 | RYR1 | c.317+6_317+7delinsGC c.299+6_299+7delinsGC c.11907+6_11907+7delinsGC (n.11907+6_11907+7delinsGC) c.11892+6_11892+7delinsGC (n.11892+6_11892+7delinsGC) c.11889+6_11889+7delinsGC (n.11889+6_11889+7delinsGC) c.516+6_516+7delinsGC c.5276+6_5276+7delinsGC c.11874+6_11874+7delinsGC (n.11874+6_11874+7delinsGC) c.11904+6_11904+7delinsGC (n.11904+6_11904+7delinsGC) | |
| 19 | g.38543667del | CA2335074452 | RYR1 | c.317+7del c.299+7del c.11907+7del (n.11907+7del) c.11892+7del (n.11892+7del) c.11889+7del (n.11889+7del) c.516+7del c.5276+7del c.11874+7del (n.11874+7del) c.11904+7del (n.11904+7del) | dbSNP |
| 19 | g.38543667C= | CA2335074453 | RYR1 | c.317+7C= c.299+7C= c.11907+7C= (n.11907+7C=) c.11892+7C= (n.11892+7C=) c.11889+7C= (n.11889+7C=) c.516+7C= c.5276+7C= c.11874+7C= (n.11874+7C=) c.11904+7C= (n.11904+7C=) | |
| 19 | g.38543667C>G | CA2584908117 | RYR1 | c.317+7C>G c.299+7C>G c.11907+7C>G (n.11907+7C>G) c.11892+7C>G (n.11892+7C>G) c.11889+7C>G (n.11889+7C>G) c.516+7C>G c.5276+7C>G c.11874+7C>G (n.11874+7C>G) c.11904+7C>G (n.11904+7C>G) | gnomAD v4 |
| 19 | g.38543667C>T | CA057829 | RYR1 | c.317+7C>T c.299+7C>T c.11907+7C>T (n.11907+7C>T) c.11892+7C>T (n.11892+7C>T) c.11889+7C>T (n.11889+7C>T) c.516+7C>T c.5276+7C>T c.11874+7C>T (n.11874+7C>T) c.11904+7C>T (n.11904+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543668G>A | CA10651890 | RYR1 | c.317+8G>A c.299+8G>A c.11907+8G>A (n.11907+8G>A) c.11892+8G>A (n.11892+8G>A) c.11889+8G>A (n.11889+8G>A) c.516+8G>A c.5276+8G>A c.11874+8G>A (n.11874+8G>A) c.11904+8G>A (n.11904+8G>A) | ClinVar dbSNP |
| 19 | g.38543668G= | CA2335074454 | RYR1 | c.317+8G= c.299+8G= c.11907+8G= (n.11907+8G=) c.11892+8G= (n.11892+8G=) c.11889+8G= (n.11889+8G=) c.516+8G= c.5276+8G= c.11874+8G= (n.11874+8G=) c.11904+8G= (n.11904+8G=) | |
| 19 | g.38543669C= | CA2335074455 | RYR1 | c.317+9C= c.299+9C= c.11907+9C= (n.11907+9C=) c.11892+9C= (n.11892+9C=) c.11889+9C= (n.11889+9C=) c.516+9C= c.5276+9C= c.11874+9C= (n.11874+9C=) c.11904+9C= (n.11904+9C=) | |
| 19 | g.38543669C>T | CA2335074456 | RYR1 | c.317+9C>T c.299+9C>T c.11907+9C>T (n.11907+9C>T) c.11892+9C>T (n.11892+9C>T) c.11889+9C>T (n.11889+9C>T) c.516+9C>T c.5276+9C>T c.11874+9C>T (n.11874+9C>T) c.11904+9C>T (n.11904+9C>T) | dbSNP |
| 19 | g.38543670_38543671del | CA057774 | RYR1 | c.317+10_317+11del c.299+10_299+11del c.11907+10_11907+11del (n.11907+10_11907+11del) c.11892+10_11892+11del (n.11892+10_11892+11del) c.11889+10_11889+11del (n.11889+10_11889+11del) c.516+10_516+11del c.5276+10_5276+11del c.11874+10_11874+11del (n.11874+10_11874+11del) c.11904+10_11904+11del (n.11904+10_11904+11del) | |
| 19 | g.38543670T>A | CA9415931 | RYR1 | c.317+10T>A c.299+10T>A c.11907+10T>A (n.11907+10T>A) c.11892+10T>A (n.11892+10T>A) c.11889+10T>A (n.11889+10T>A) c.516+10T>A c.5276+10T>A c.11874+10T>A (n.11874+10T>A) c.11904+10T>A (n.11904+10T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543670T>G | CA9415932 | RYR1 | c.317+10T>G c.299+10T>G c.11907+10T>G (n.11907+10T>G) c.11892+10T>G (n.11892+10T>G) c.11889+10T>G (n.11889+10T>G) c.516+10T>G c.5276+10T>G c.11874+10T>G (n.11874+10T>G) c.11904+10T>G (n.11904+10T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543670T= | CA2335074458 | RYR1 | c.317+10T= c.299+10T= c.11907+10T= (n.11907+10T=) c.11892+10T= (n.11892+10T=) c.11889+10T= (n.11889+10T=) c.516+10T= c.5276+10T= c.11874+10T= (n.11874+10T=) c.11904+10T= (n.11904+10T=) | |
| 19 | g.38543670_38543671delinsTC | CA2335074457 | RYR1 | c.317+10_317+11delinsTC c.299+10_299+11delinsTC c.11907+10_11907+11delinsTC (n.11907+10_11907+11delinsTC) c.11892+10_11892+11delinsTC (n.11892+10_11892+11delinsTC) c.11889+10_11889+11delinsTC (n.11889+10_11889+11delinsTC) c.516+10_516+11delinsTC c.5276+10_5276+11delinsTC c.11874+10_11874+11delinsTC (n.11874+10_11874+11delinsTC) c.11904+10_11904+11delinsTC (n.11904+10_11904+11delinsTC) | |
| 19 | g.38543671C>A | CA632869688 | RYR1 | c.317+11C>A c.299+11C>A c.11907+11C>A (n.11907+11C>A) c.11892+11C>A (n.11892+11C>A) c.11889+11C>A (n.11889+11C>A) c.516+11C>A c.5276+11C>A c.11874+11C>A (n.11874+11C>A) c.11904+11C>A (n.11904+11C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543671C= | CA2335074459 | RYR1 | c.317+11C= c.299+11C= c.11907+11C= (n.11907+11C=) c.11892+11C= (n.11892+11C=) c.11889+11C= (n.11889+11C=) c.516+11C= c.5276+11C= c.11874+11C= (n.11874+11C=) c.11904+11C= (n.11904+11C=) | |
| 19 | g.38543671C>T | CA2335074460 | RYR1 | c.317+11C>T c.299+11C>T c.11907+11C>T (n.11907+11C>T) c.11892+11C>T (n.11892+11C>T) c.11889+11C>T (n.11889+11C>T) c.516+11C>T c.5276+11C>T c.11874+11C>T (n.11874+11C>T) c.11904+11C>T (n.11904+11C>T) | dbSNP |
| 19 | g.38543675del | CA9415933 | RYR1 | c.317+15del c.299+15del c.11907+15del (n.11907+15del) c.11892+15del (n.11892+15del) c.11889+15del (n.11889+15del) c.516+15del c.5276+15del c.11874+15del (n.11874+15del) c.11904+15del (n.11904+15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38543673C>A | CA2335074461 | RYR1 | c.317+13C>A c.299+13C>A c.11907+13C>A (n.11907+13C>A) c.11892+13C>A (n.11892+13C>A) c.11889+13C>A (n.11889+13C>A) c.516+13C>A c.5276+13C>A c.11874+13C>A (n.11874+13C>A) c.11904+13C>A (n.11904+13C>A) | dbSNP gnomAD v4 |
| 19 | g.38543673C= | CA2335074462 | RYR1 | c.317+13C= c.299+13C= c.11907+13C= (n.11907+13C=) c.11892+13C= (n.11892+13C=) c.11889+13C= (n.11889+13C=) c.516+13C= c.5276+13C= c.11874+13C= (n.11874+13C=) c.11904+13C= (n.11904+13C=) | |
| 19 | g.38543674C= | CA2335074463 | RYR1 | c.317+14C= c.299+14C= c.11907+14C= (n.11907+14C=) c.11892+14C= (n.11892+14C=) c.11889+14C= (n.11889+14C=) c.516+14C= c.5276+14C= c.11874+14C= (n.11874+14C=) c.11904+14C= (n.11904+14C=) | |
| 19 | g.38543674C>G | CA632869689 | RYR1 | c.317+14C>G c.299+14C>G c.11907+14C>G (n.11907+14C>G) c.11892+14C>G (n.11892+14C>G) c.11889+14C>G (n.11889+14C>G) c.516+14C>G c.5276+14C>G c.11874+14C>G (n.11874+14C>G) c.11904+14C>G (n.11904+14C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543674C>T | CA2697556584 | RYR1 | c.317+14C>T c.299+14C>T c.11907+14C>T (n.11907+14C>T) c.11892+14C>T (n.11892+14C>T) c.11889+14C>T (n.11889+14C>T) c.516+14C>T c.5276+14C>T c.11874+14C>T (n.11874+14C>T) c.11904+14C>T (n.11904+14C>T) | ClinVar |
| 19 | g.38543675C>A | CA2527746465 | RYR1 | c.317+15C>A c.299+15C>A c.11907+15C>A (n.11907+15C>A) c.11892+15C>A (n.11892+15C>A) c.11889+15C>A (n.11889+15C>A) c.516+15C>A c.5276+15C>A c.11874+15C>A (n.11874+15C>A) c.11904+15C>A (n.11904+15C>A) | gnomAD v4 |
| 19 | g.38543675C= | CA2335074464 | RYR1 | c.317+15C= c.299+15C= c.11907+15C= (n.11907+15C=) c.11892+15C= (n.11892+15C=) c.11889+15C= (n.11889+15C=) c.516+15C= c.5276+15C= c.11874+15C= (n.11874+15C=) c.11904+15C= (n.11904+15C=) | |
| 19 | g.38543675C>G | CA2580097174 | RYR1 | c.317+15C>G c.299+15C>G c.11907+15C>G (n.11907+15C>G) c.11892+15C>G (n.11892+15C>G) c.11889+15C>G (n.11889+15C>G) c.516+15C>G c.5276+15C>G c.11874+15C>G (n.11874+15C>G) c.11904+15C>G (n.11904+15C>G) | ClinVar gnomAD v4 |
| 19 | g.38543675C>T | CA057781 | RYR1 | c.317+15C>T c.299+15C>T c.11907+15C>T (n.11907+15C>T) c.11892+15C>T (n.11892+15C>T) c.11889+15C>T (n.11889+15C>T) c.516+15C>T c.5276+15C>T c.11874+15C>T (n.11874+15C>T) c.11904+15C>T (n.11904+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543676T>A | CA2736031230 | RYR1 | c.317+16T>A c.299+16T>A c.11907+16T>A (n.11907+16T>A) c.11892+16T>A (n.11892+16T>A) c.11889+16T>A (n.11889+16T>A) c.516+16T>A c.5276+16T>A c.11874+16T>A (n.11874+16T>A) c.11904+16T>A (n.11904+16T>A) | dbSNP |
| 19 | g.38543678G>A | CA2697556585 | RYR1 | c.317+18G>A c.299+18G>A c.11907+18G>A (n.11907+18G>A) c.11892+18G>A (n.11892+18G>A) c.11889+18G>A (n.11889+18G>A) c.516+18G>A c.5276+18G>A c.11874+18G>A (n.11874+18G>A) c.11904+18G>A (n.11904+18G>A) | ClinVar |
| 19 | g.38543678G>C | CA308092214 | RYR1 | c.317+18G>C c.299+18G>C c.11907+18G>C (n.11907+18G>C) c.11892+18G>C (n.11892+18G>C) c.11889+18G>C (n.11889+18G>C) c.516+18G>C c.5276+18G>C c.11874+18G>C (n.11874+18G>C) c.11904+18G>C (n.11904+18G>C) | dbSNP |
| 19 | g.38543678G= | CA2335074465 | RYR1 | c.317+18G= c.299+18G= c.11907+18G= (n.11907+18G=) c.11892+18G= (n.11892+18G=) c.11889+18G= (n.11889+18G=) c.516+18G= c.5276+18G= c.11874+18G= (n.11874+18G=) c.11904+18G= (n.11904+18G=) | |
| 19 | g.38543679G>A | CA2584908118 | RYR1 | c.317+19G>A c.299+19G>A c.11907+19G>A (n.11907+19G>A) c.11892+19G>A (n.11892+19G>A) c.11889+19G>A (n.11889+19G>A) c.516+19G>A c.5276+19G>A c.11874+19G>A (n.11874+19G>A) c.11904+19G>A (n.11904+19G>A) | ClinVar gnomAD v4 |
| 19 | g.38543681C= | CA2335074466 | RYR1 | c.317+21C= c.299+21C= c.11907+21C= (n.11907+21C=) c.11892+21C= (n.11892+21C=) c.11889+21C= (n.11889+21C=) c.516+21C= c.5276+21C= c.11874+21C= (n.11874+21C=) c.11904+21C= (n.11904+21C=) | |
| 19 | g.38543681C>T | CA632869690 | RYR1 | c.317+21C>T c.299+21C>T c.11907+21C>T (n.11907+21C>T) c.11892+21C>T (n.11892+21C>T) c.11889+21C>T (n.11889+21C>T) c.516+21C>T c.5276+21C>T c.11874+21C>T (n.11874+21C>T) c.11904+21C>T (n.11904+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543682G>A | CA057785 | RYR1 | c.317+22G>A c.299+22G>A c.11907+22G>A (n.11907+22G>A) c.11892+22G>A (n.11892+22G>A) c.11889+22G>A (n.11889+22G>A) c.516+22G>A c.5276+22G>A c.11874+22G>A (n.11874+22G>A) c.11904+22G>A (n.11904+22G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543682G>C | CA2581382551 | RYR1 | c.317+22G>C c.299+22G>C c.11907+22G>C (n.11907+22G>C) c.11892+22G>C (n.11892+22G>C) c.11889+22G>C (n.11889+22G>C) c.516+22G>C c.5276+22G>C c.11874+22G>C (n.11874+22G>C) c.11904+22G>C (n.11904+22G>C) | |
| 19 | g.38543682G= | CA2335074467 | RYR1 | c.317+22G= c.299+22G= c.11907+22G= (n.11907+22G=) c.11892+22G= (n.11892+22G=) c.11889+22G= (n.11889+22G=) c.516+22G= c.5276+22G= c.11874+22G= (n.11874+22G=) c.11904+22G= (n.11904+22G=) | |
| 19 | g.38543682G>T | CA2581382550 | RYR1 | c.317+22G>T c.299+22G>T c.11907+22G>T (n.11907+22G>T) c.11892+22G>T (n.11892+22G>T) c.11889+22G>T (n.11889+22G>T) c.516+22G>T c.5276+22G>T c.11874+22G>T (n.11874+22G>T) c.11904+22G>T (n.11904+22G>T) | |
| 19 | g.38543684del | CA2584908119 | RYR1 | c.317+24del c.299+24del c.11907+24del (n.11907+24del) c.11892+24del (n.11892+24del) c.11889+24del (n.11889+24del) c.516+24del c.5276+24del c.11874+24del (n.11874+24del) c.11904+24del (n.11904+24del) | gnomAD v4 |
| 19 | g.38543684G>A | CA2335074469 | RYR1 | c.317+24G>A c.299+24G>A c.11907+24G>A (n.11907+24G>A) c.11892+24G>A (n.11892+24G>A) c.11889+24G>A (n.11889+24G>A) c.516+24G>A c.5276+24G>A c.11874+24G>A (n.11874+24G>A) c.11904+24G>A (n.11904+24G>A) | dbSNP gnomAD v4 |
| 19 | g.38543684G>C | CA2559495734 | RYR1 | c.317+24G>C c.299+24G>C c.11907+24G>C (n.11907+24G>C) c.11892+24G>C (n.11892+24G>C) c.11889+24G>C (n.11889+24G>C) c.516+24G>C c.5276+24G>C c.11874+24G>C (n.11874+24G>C) c.11904+24G>C (n.11904+24G>C) | |
| 19 | g.38543684G= | CA2335074468 | RYR1 | c.317+24G= c.299+24G= c.11907+24G= (n.11907+24G=) c.11892+24G= (n.11892+24G=) c.11889+24G= (n.11889+24G=) c.516+24G= c.5276+24G= c.11874+24G= (n.11874+24G=) c.11904+24G= (n.11904+24G=) | |
| 19 | g.38543684G>T | CA882060801 | RYR1 | c.317+24G>T c.299+24G>T c.11907+24G>T (n.11907+24G>T) c.11892+24G>T (n.11892+24G>T) c.11889+24G>T (n.11889+24G>T) c.516+24G>T c.5276+24G>T c.11874+24G>T (n.11874+24G>T) c.11904+24G>T (n.11904+24G>T) | dbSNP |