Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237784144C>A | CA424032184 | RYR2 | c.*3524C>A (n.*3524C>A) c.12420C>A (p.Arg4140=) c.12453C>A (p.Arg4151=) c.4609C>A c.12432C>A (p.Arg4144=) c.2485C>A c.12384C>A (p.Arg4128=) n.3627C>A c.12486C>A (p.Arg4162=) c.12483C>A (p.Arg4161=) c.12462C>A (p.Arg4154=) c.12456C>A (p.Arg4152=) c.12450C>A (p.Arg4150=) c.12426C>A (p.Arg4142=) c.12249C>A (p.Arg4083=) c.12393C>A (p.Arg4131=) c.12465C>A (p.Arg4155=) | |
1 | g.237784144C>G | CA424032185 | RYR2 | c.*3524C>G (n.*3524C>G) c.12420C>G (p.Arg4140=) c.12453C>G (p.Arg4151=) c.4609C>G c.12432C>G (p.Arg4144=) c.2485C>G c.12384C>G (p.Arg4128=) n.3627C>G c.12486C>G (p.Arg4162=) c.12483C>G (p.Arg4161=) c.12462C>G (p.Arg4154=) c.12456C>G (p.Arg4152=) c.12450C>G (p.Arg4150=) c.12426C>G (p.Arg4142=) c.12249C>G (p.Arg4083=) c.12393C>G (p.Arg4131=) c.12465C>G (p.Arg4155=) | |
1 | g.237784144C>T | CA424032187 | RYR2 | c.*3524C>T (n.*3524C>T) c.12420C>T (p.Arg4140=) c.12453C>T (p.Arg4151=) c.4609C>T c.12432C>T (p.Arg4144=) c.2485C>T c.12384C>T (p.Arg4128=) n.3627C>T c.12486C>T (p.Arg4162=) c.12483C>T (p.Arg4161=) c.12462C>T (p.Arg4154=) c.12456C>T (p.Arg4152=) c.12450C>T (p.Arg4150=) c.12426C>T (p.Arg4142=) c.12249C>T (p.Arg4083=) c.12393C>T (p.Arg4131=) c.12465C>T (p.Arg4155=) | |
1 | g.237784145A>C | CA345413237 | RYR2 | c.*3525A>C (n.*3525A>C) c.12421A>C (p.Ile4141Leu) c.12454A>C (p.Ile4152Leu) c.4610A>C c.12433A>C (p.Ile4145Leu) c.2486A>C c.12385A>C (p.Ile4129Leu) n.3628A>C c.12487A>C (p.Ile4163Leu) c.12484A>C (p.Ile4162Leu) c.12463A>C (p.Ile4155Leu) c.12457A>C (p.Ile4153Leu) c.12451A>C (p.Ile4151Leu) c.12427A>C (p.Ile4143Leu) c.12250A>C (p.Ile4084Leu) c.12394A>C (p.Ile4132Leu) c.12466A>C (p.Ile4156Leu) | |
1 | g.237784145A>G | CA345413239 | RYR2 | c.*3525A>G (n.*3525A>G) c.12421A>G (p.Ile4141Val) c.12454A>G (p.Ile4152Val) c.4610A>G c.12433A>G (p.Ile4145Val) c.2486A>G c.12385A>G (p.Ile4129Val) n.3628A>G c.12487A>G (p.Ile4163Val) c.12484A>G (p.Ile4162Val) c.12463A>G (p.Ile4155Val) c.12457A>G (p.Ile4153Val) c.12451A>G (p.Ile4151Val) c.12427A>G (p.Ile4143Val) c.12250A>G (p.Ile4084Val) c.12394A>G (p.Ile4132Val) c.12466A>G (p.Ile4156Val) | |
1 | g.237784145A>T | CA345413236 | RYR2 | c.*3525A>T (n.*3525A>T) c.12421A>T (p.Ile4141Phe) c.12454A>T (p.Ile4152Phe) c.4610A>T c.12433A>T (p.Ile4145Phe) c.2486A>T c.12385A>T (p.Ile4129Phe) n.3628A>T c.12487A>T (p.Ile4163Phe) c.12484A>T (p.Ile4162Phe) c.12463A>T (p.Ile4155Phe) c.12457A>T (p.Ile4153Phe) c.12451A>T (p.Ile4151Phe) c.12427A>T (p.Ile4143Phe) c.12250A>T (p.Ile4084Phe) c.12394A>T (p.Ile4132Phe) c.12466A>T (p.Ile4156Phe) | |
1 | g.237784146T>A | CA345413240 | RYR2 | c.*3526T>A (n.*3526T>A) c.12422T>A (p.Ile4141Asn) c.12455T>A (p.Ile4152Asn) c.4611T>A c.12434T>A (p.Ile4145Asn) c.2487T>A c.12386T>A (p.Ile4129Asn) n.3629T>A c.12488T>A (p.Ile4163Asn) c.12485T>A (p.Ile4162Asn) c.12464T>A (p.Ile4155Asn) c.12458T>A (p.Ile4153Asn) c.12452T>A (p.Ile4151Asn) c.12428T>A (p.Ile4143Asn) c.12251T>A (p.Ile4084Asn) c.12395T>A (p.Ile4132Asn) c.12467T>A (p.Ile4156Asn) | |
1 | g.237784146T>C | CA345413241 | RYR2 | c.*3526T>C (n.*3526T>C) c.12422T>C (p.Ile4141Thr) c.12455T>C (p.Ile4152Thr) c.4611T>C c.12434T>C (p.Ile4145Thr) c.2487T>C c.12386T>C (p.Ile4129Thr) n.3629T>C c.12488T>C (p.Ile4163Thr) c.12485T>C (p.Ile4162Thr) c.12464T>C (p.Ile4155Thr) c.12458T>C (p.Ile4153Thr) c.12452T>C (p.Ile4151Thr) c.12428T>C (p.Ile4143Thr) c.12251T>C (p.Ile4084Thr) c.12395T>C (p.Ile4132Thr) c.12467T>C (p.Ile4156Thr) | |
1 | g.237784146T>G | CA345413243 | RYR2 | c.*3526T>G (n.*3526T>G) c.12422T>G (p.Ile4141Ser) c.12455T>G (p.Ile4152Ser) c.4611T>G c.12434T>G (p.Ile4145Ser) c.2487T>G c.12386T>G (p.Ile4129Ser) n.3629T>G c.12488T>G (p.Ile4163Ser) c.12485T>G (p.Ile4162Ser) c.12464T>G (p.Ile4155Ser) c.12458T>G (p.Ile4153Ser) c.12452T>G (p.Ile4151Ser) c.12428T>G (p.Ile4143Ser) c.12251T>G (p.Ile4084Ser) c.12395T>G (p.Ile4132Ser) c.12467T>G (p.Ile4156Ser) | |
1 | g.237784147C>A | CA424032191 | RYR2 | c.*3527C>A (n.*3527C>A) c.12423C>A (p.Ile4141=) c.12456C>A (p.Ile4152=) c.4612C>A c.12435C>A (p.Ile4145=) c.2488C>A c.12387C>A (p.Ile4129=) n.3630C>A c.12489C>A (p.Ile4163=) c.12486C>A (p.Ile4162=) c.12465C>A (p.Ile4155=) c.12459C>A (p.Ile4153=) c.12453C>A (p.Ile4151=) c.12429C>A (p.Ile4143=) c.12252C>A (p.Ile4084=) c.12396C>A (p.Ile4132=) c.12468C>A (p.Ile4156=) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784147C= | CA2487482402 | RYR2 | c.*3527C= (n.*3527C=) c.12423C= (p.Ile4141=) c.12456C= (p.Ile4152=) c.4612C= c.12435C= (p.Ile4145=) c.2488C= c.12387C= (p.Ile4129=) n.3630C= c.12489C= (p.Ile4163=) c.12486C= (p.Ile4162=) c.12465C= (p.Ile4155=) c.12459C= (p.Ile4153=) c.12453C= (p.Ile4151=) c.12429C= (p.Ile4143=) c.12252C= (p.Ile4084=) c.12396C= (p.Ile4132=) c.12468C= (p.Ile4156=) | |
1 | g.237784147C>G | CA345413245 | RYR2 | c.*3527C>G (n.*3527C>G) c.12423C>G (p.Ile4141Met) c.12456C>G (p.Ile4152Met) c.4612C>G c.12435C>G (p.Ile4145Met) c.2488C>G c.12387C>G (p.Ile4129Met) n.3630C>G c.12489C>G (p.Ile4163Met) c.12486C>G (p.Ile4162Met) c.12465C>G (p.Ile4155Met) c.12459C>G (p.Ile4153Met) c.12453C>G (p.Ile4151Met) c.12429C>G (p.Ile4143Met) c.12252C>G (p.Ile4084Met) c.12396C>G (p.Ile4132Met) c.12468C>G (p.Ile4156Met) | |
1 | g.237784147C>T | CA39827635 | RYR2 | c.*3527C>T (n.*3527C>T) c.12423C>T (p.Ile4141=) c.12456C>T (p.Ile4152=) c.4612C>T c.12435C>T (p.Ile4145=) c.2488C>T c.12387C>T (p.Ile4129=) n.3630C>T c.12489C>T (p.Ile4163=) c.12486C>T (p.Ile4162=) c.12465C>T (p.Ile4155=) c.12459C>T (p.Ile4153=) c.12453C>T (p.Ile4151=) c.12429C>T (p.Ile4143=) c.12252C>T (p.Ile4084=) c.12396C>T (p.Ile4132=) c.12468C>T (p.Ile4156=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784147_237784149delinsCGA | CA2487482403 | RYR2 | c.*3527_*3529delinsCGA (n.*3527_*3529delinsCGA) c.12423_12425delinsCGA (p.Ile4141=) c.12456_12458delinsCGA (p.Ile4152=) c.4612_4614delinsCGA c.12435_12437delinsCGA (p.Ile4145=) c.2488_2490delinsCGA c.12387_12389delinsCGA (p.Ile4129=) n.3630_3632delinsCGA c.12489_12491delinsCGA (p.Ile4163=) c.12486_12488delinsCGA (p.Ile4162=) c.12465_12467delinsCGA (p.Ile4155=) c.12459_12461delinsCGA (p.Ile4153=) c.12453_12455delinsCGA (p.Ile4151=) c.12429_12431delinsCGA (p.Ile4143=) c.12252_12254delinsCGA (p.Ile4084=) c.12396_12398delinsCGA (p.Ile4132=) c.12468_12470delinsCGA (p.Ile4156=) | |
1 | g.237784148G>A | CA345413247 | RYR2 | c.*3528G>A (n.*3528G>A) c.12424G>A (p.Glu4142Lys) c.12457G>A (p.Glu4153Lys) c.4613G>A c.12436G>A (p.Glu4146Lys) c.2489G>A c.12388G>A (p.Glu4130Lys) n.3631G>A c.12490G>A (p.Glu4164Lys) c.12487G>A (p.Glu4163Lys) c.12466G>A (p.Glu4156Lys) c.12460G>A (p.Glu4154Lys) c.12454G>A (p.Glu4152Lys) c.12430G>A (p.Glu4144Lys) c.12253G>A (p.Glu4085Lys) c.12397G>A (p.Glu4133Lys) c.12469G>A (p.Glu4157Lys) | dbSNP |
1 | g.237784148G>C | CA345413248 | RYR2 | c.*3528G>C (n.*3528G>C) c.12424G>C (p.Glu4142Gln) c.12457G>C (p.Glu4153Gln) c.4613G>C c.12436G>C (p.Glu4146Gln) c.2489G>C c.12388G>C (p.Glu4130Gln) n.3631G>C c.12490G>C (p.Glu4164Gln) c.12487G>C (p.Glu4163Gln) c.12466G>C (p.Glu4156Gln) c.12460G>C (p.Glu4154Gln) c.12454G>C (p.Glu4152Gln) c.12430G>C (p.Glu4144Gln) c.12253G>C (p.Glu4085Gln) c.12397G>C (p.Glu4133Gln) c.12469G>C (p.Glu4157Gln) | |
1 | g.237784148G= | CA2487482404 | RYR2 | c.*3528G= (n.*3528G=) c.12424G= (p.Glu4142=) c.12457G= (p.Glu4153=) c.4613G= c.12436G= (p.Glu4146=) c.2489G= c.12388G= (p.Glu4130=) n.3631G= c.12490G= (p.Glu4164=) c.12487G= (p.Glu4163=) c.12466G= (p.Glu4156=) c.12460G= (p.Glu4154=) c.12454G= (p.Glu4152=) c.12430G= (p.Glu4144=) c.12253G= (p.Glu4085=) c.12397G= (p.Glu4133=) c.12469G= (p.Glu4157=) | |
1 | g.237784148G>T | CA345413250 | RYR2 | c.*3528G>T (n.*3528G>T) c.12424G>T (p.Glu4142Ter) c.12457G>T (p.Glu4153Ter) c.4613G>T c.12436G>T (p.Glu4146Ter) c.2489G>T c.12388G>T (p.Glu4130Ter) n.3631G>T c.12490G>T (p.Glu4164Ter) c.12487G>T (p.Glu4163Ter) c.12466G>T (p.Glu4156Ter) c.12460G>T (p.Glu4154Ter) c.12454G>T (p.Glu4152Ter) c.12430G>T (p.Glu4144Ter) c.12253G>T (p.Glu4085Ter) c.12397G>T (p.Glu4133Ter) c.12469G>T (p.Glu4157Ter) | COSMIC COSMIC |
1 | g.237784151_237784152del | CA1013748110 | RYR2 | c.*3531_*3532del (n.*3531_*3532del) c.12427_12428del (p.Arg4143GlyfsTer4) c.12460_12461del (p.Arg4154GlyfsTer4) c.4616_4617del c.12439_12440del (p.Arg4147GlyfsTer4) c.2492_2493del c.12391_12392del (p.Arg4131GlyfsTer4) n.3634_3635del c.12493_12494del (p.Arg4165GlyfsTer4) c.12490_12491del (p.Arg4164GlyfsTer4) c.12469_12470del (p.Arg4157GlyfsTer4) c.12463_12464del (p.Arg4155GlyfsTer4) c.12457_12458del (p.Arg4153GlyfsTer4) c.12433_12434del (p.Arg4145GlyfsTer4) c.12256_12257del (p.Arg4086GlyfsTer4) c.12400_12401del (p.Arg4134GlyfsTer4) c.12472_12473del (p.Arg4158GlyfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784149A= | CA2487482405 | RYR2 | c.*3529A= (n.*3529A=) c.12425A= (p.Glu4142=) c.12458A= (p.Glu4153=) c.4614A= c.12437A= (p.Glu4146=) c.2490A= c.12389A= (p.Glu4130=) n.3632A= c.12491A= (p.Glu4164=) c.12488A= (p.Glu4163=) c.12467A= (p.Glu4156=) c.12461A= (p.Glu4154=) c.12455A= (p.Glu4152=) c.12431A= (p.Glu4144=) c.12254A= (p.Glu4085=) c.12398A= (p.Glu4133=) c.12470A= (p.Glu4157=) | |
1 | g.237784149A>C | CA345413252 | RYR2 | c.*3529A>C (n.*3529A>C) c.12425A>C (p.Glu4142Ala) c.12458A>C (p.Glu4153Ala) c.4614A>C c.12437A>C (p.Glu4146Ala) c.2490A>C c.12389A>C (p.Glu4130Ala) n.3632A>C c.12491A>C (p.Glu4164Ala) c.12488A>C (p.Glu4163Ala) c.12467A>C (p.Glu4156Ala) c.12461A>C (p.Glu4154Ala) c.12455A>C (p.Glu4152Ala) c.12431A>C (p.Glu4144Ala) c.12254A>C (p.Glu4085Ala) c.12398A>C (p.Glu4133Ala) c.12470A>C (p.Glu4157Ala) | |
1 | g.237784149A>G | CA345413254 | RYR2 | c.*3529A>G (n.*3529A>G) c.12425A>G (p.Glu4142Gly) c.12458A>G (p.Glu4153Gly) c.4614A>G c.12437A>G (p.Glu4146Gly) c.2490A>G c.12389A>G (p.Glu4130Gly) n.3632A>G c.12491A>G (p.Glu4164Gly) c.12488A>G (p.Glu4163Gly) c.12467A>G (p.Glu4156Gly) c.12461A>G (p.Glu4154Gly) c.12455A>G (p.Glu4152Gly) c.12431A>G (p.Glu4144Gly) c.12254A>G (p.Glu4085Gly) c.12398A>G (p.Glu4133Gly) c.12470A>G (p.Glu4157Gly) | ClinVar dbSNP |
1 | g.237784149A>T | CA345413253 | RYR2 | c.*3529A>T (n.*3529A>T) c.12425A>T (p.Glu4142Val) c.12458A>T (p.Glu4153Val) c.4614A>T c.12437A>T (p.Glu4146Val) c.2490A>T c.12389A>T (p.Glu4130Val) n.3632A>T c.12491A>T (p.Glu4164Val) c.12488A>T (p.Glu4163Val) c.12467A>T (p.Glu4156Val) c.12461A>T (p.Glu4154Val) c.12455A>T (p.Glu4152Val) c.12431A>T (p.Glu4144Val) c.12254A>T (p.Glu4085Val) c.12398A>T (p.Glu4133Val) c.12470A>T (p.Glu4157Val) | |
1 | g.237784150G>A | CA424032193 | RYR2 | c.*3530G>A (n.*3530G>A) c.12426G>A (p.Glu4142=) c.12459G>A (p.Glu4153=) c.4615G>A c.12438G>A (p.Glu4146=) c.2491G>A c.12390G>A (p.Glu4130=) n.3633G>A c.12492G>A (p.Glu4164=) c.12489G>A (p.Glu4163=) c.12468G>A (p.Glu4156=) c.12462G>A (p.Glu4154=) c.12456G>A (p.Glu4152=) c.12432G>A (p.Glu4144=) c.12255G>A (p.Glu4085=) c.12399G>A (p.Glu4133=) c.12471G>A (p.Glu4157=) | |
1 | g.237784150G>C | CA204285 | RYR2 | c.*3530G>C (n.*3530G>C) c.12426G>C (p.Glu4142Asp) c.12459G>C (p.Glu4153Asp) c.4615G>C c.12438G>C (p.Glu4146Asp) c.2491G>C c.12390G>C (p.Glu4130Asp) n.3633G>C c.12492G>C (p.Glu4164Asp) c.12489G>C (p.Glu4163Asp) c.12468G>C (p.Glu4156Asp) c.12462G>C (p.Glu4154Asp) c.12456G>C (p.Glu4152Asp) c.12432G>C (p.Glu4144Asp) c.12255G>C (p.Glu4085Asp) c.12399G>C (p.Glu4133Asp) c.12471G>C (p.Glu4157Asp) | ClinVar dbSNP |
1 | g.237784150G= | CA2487482406 | RYR2 | c.*3530G= (n.*3530G=) c.12426G= (p.Glu4142=) c.12459G= (p.Glu4153=) c.4615G= c.12438G= (p.Glu4146=) c.2491G= c.12390G= (p.Glu4130=) n.3633G= c.12492G= (p.Glu4164=) c.12489G= (p.Glu4163=) c.12468G= (p.Glu4156=) c.12462G= (p.Glu4154=) c.12456G= (p.Glu4152=) c.12432G= (p.Glu4144=) c.12255G= (p.Glu4085=) c.12399G= (p.Glu4133=) c.12471G= (p.Glu4157=) | |
1 | g.237784150G>T | CA345413255 | RYR2 | c.*3530G>T (n.*3530G>T) c.12426G>T (p.Glu4142Asp) c.12459G>T (p.Glu4153Asp) c.4615G>T c.12438G>T (p.Glu4146Asp) c.2491G>T c.12390G>T (p.Glu4130Asp) n.3633G>T c.12492G>T (p.Glu4164Asp) c.12489G>T (p.Glu4163Asp) c.12468G>T (p.Glu4156Asp) c.12462G>T (p.Glu4154Asp) c.12456G>T (p.Glu4152Asp) c.12432G>T (p.Glu4144Asp) c.12255G>T (p.Glu4085Asp) c.12399G>T (p.Glu4133Asp) c.12471G>T (p.Glu4157Asp) | |
1 | g.237784151A>C | CA424032194 | RYR2 | c.*3531A>C (n.*3531A>C) c.12427A>C (p.Arg4143=) c.12460A>C (p.Arg4154=) c.4616A>C c.12439A>C (p.Arg4147=) c.2492A>C c.12391A>C (p.Arg4131=) n.3634A>C c.12493A>C (p.Arg4165=) c.12490A>C (p.Arg4164=) c.12469A>C (p.Arg4157=) c.12463A>C (p.Arg4155=) c.12457A>C (p.Arg4153=) c.12433A>C (p.Arg4145=) c.12256A>C (p.Arg4086=) c.12400A>C (p.Arg4134=) c.12472A>C (p.Arg4158=) | |
1 | g.237784151A>G | CA345413256 | RYR2 | c.*3531A>G (n.*3531A>G) c.12427A>G (p.Arg4143Gly) c.12460A>G (p.Arg4154Gly) c.4616A>G c.12439A>G (p.Arg4147Gly) c.2492A>G c.12391A>G (p.Arg4131Gly) n.3634A>G c.12493A>G (p.Arg4165Gly) c.12490A>G (p.Arg4164Gly) c.12469A>G (p.Arg4157Gly) c.12463A>G (p.Arg4155Gly) c.12457A>G (p.Arg4153Gly) c.12433A>G (p.Arg4145Gly) c.12256A>G (p.Arg4086Gly) c.12400A>G (p.Arg4134Gly) c.12472A>G (p.Arg4158Gly) | |
1 | g.237784151A>T | CA345413257 | RYR2 | c.*3531A>T (n.*3531A>T) c.12427A>T (p.Arg4143Trp) c.12460A>T (p.Arg4154Trp) c.4616A>T c.12439A>T (p.Arg4147Trp) c.2492A>T c.12391A>T (p.Arg4131Trp) n.3634A>T c.12493A>T (p.Arg4165Trp) c.12490A>T (p.Arg4164Trp) c.12469A>T (p.Arg4157Trp) c.12463A>T (p.Arg4155Trp) c.12457A>T (p.Arg4153Trp) c.12433A>T (p.Arg4145Trp) c.12256A>T (p.Arg4086Trp) c.12400A>T (p.Arg4134Trp) c.12472A>T (p.Arg4158Trp) | |
1 | g.237784151dup | CA2698436138 | RYR2 | c.*3531dup (n.*3531dup) c.12427dup (p.Arg4143LysfsTer5) c.12460dup (p.Arg4154LysfsTer5) c.4616dup c.12439dup (p.Arg4147LysfsTer5) c.2492dup c.12391dup (p.Arg4131LysfsTer5) n.3634dup c.12493dup (p.Arg4165LysfsTer5) c.12490dup (p.Arg4164LysfsTer5) c.12469dup (p.Arg4157LysfsTer5) c.12463dup (p.Arg4155LysfsTer5) c.12457dup (p.Arg4153LysfsTer5) c.12433dup (p.Arg4145LysfsTer5) c.12256dup (p.Arg4086LysfsTer5) c.12400dup (p.Arg4134LysfsTer5) c.12472dup (p.Arg4158LysfsTer5) | dbSNP |
1 | g.237784152G>A | CA345413259 | RYR2 | c.*3532G>A (n.*3532G>A) c.12428G>A (p.Arg4143Lys) c.12461G>A (p.Arg4154Lys) c.4617G>A c.12440G>A (p.Arg4147Lys) c.2493G>A c.12392G>A (p.Arg4131Lys) n.3635G>A c.12494G>A (p.Arg4165Lys) c.12491G>A (p.Arg4164Lys) c.12470G>A (p.Arg4157Lys) c.12464G>A (p.Arg4155Lys) c.12458G>A (p.Arg4153Lys) c.12434G>A (p.Arg4145Lys) c.12257G>A (p.Arg4086Lys) c.12401G>A (p.Arg4134Lys) c.12473G>A (p.Arg4158Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784152G>C | CA345413262 | RYR2 | c.*3532G>C (n.*3532G>C) c.12428G>C (p.Arg4143Thr) c.12461G>C (p.Arg4154Thr) c.4617G>C c.12440G>C (p.Arg4147Thr) c.2493G>C c.12392G>C (p.Arg4131Thr) n.3635G>C c.12494G>C (p.Arg4165Thr) c.12491G>C (p.Arg4164Thr) c.12470G>C (p.Arg4157Thr) c.12464G>C (p.Arg4155Thr) c.12458G>C (p.Arg4153Thr) c.12434G>C (p.Arg4145Thr) c.12257G>C (p.Arg4086Thr) c.12401G>C (p.Arg4134Thr) c.12473G>C (p.Arg4158Thr) | gnomAD v4 |
1 | g.237784152G= | CA2487482407 | RYR2 | c.*3532G= (n.*3532G=) c.12428G= (p.Arg4143=) c.12461G= (p.Arg4154=) c.4617G= c.12440G= (p.Arg4147=) c.2493G= c.12392G= (p.Arg4131=) n.3635G= c.12494G= (p.Arg4165=) c.12491G= (p.Arg4164=) c.12470G= (p.Arg4157=) c.12464G= (p.Arg4155=) c.12458G= (p.Arg4153=) c.12434G= (p.Arg4145=) c.12257G= (p.Arg4086=) c.12401G= (p.Arg4134=) c.12473G= (p.Arg4158=) | |
1 | g.237784152G>T | CA345413260 | RYR2 | c.*3532G>T (n.*3532G>T) c.12428G>T (p.Arg4143Met) c.12461G>T (p.Arg4154Met) c.4617G>T c.12440G>T (p.Arg4147Met) c.2493G>T c.12392G>T (p.Arg4131Met) n.3635G>T c.12494G>T (p.Arg4165Met) c.12491G>T (p.Arg4164Met) c.12470G>T (p.Arg4157Met) c.12464G>T (p.Arg4155Met) c.12458G>T (p.Arg4153Met) c.12434G>T (p.Arg4145Met) c.12257G>T (p.Arg4086Met) c.12401G>T (p.Arg4134Met) c.12473G>T (p.Arg4158Met) | |
1 | g.237784153G>A | CA424032197 | RYR2 | c.*3533G>A (n.*3533G>A) c.12429G>A (p.Arg4143=) c.12462G>A (p.Arg4154=) c.4618G>A c.12441G>A (p.Arg4147=) c.2494G>A c.12393G>A (p.Arg4131=) n.3636G>A c.12495G>A (p.Arg4165=) c.12492G>A (p.Arg4164=) c.12471G>A (p.Arg4157=) c.12465G>A (p.Arg4155=) c.12459G>A (p.Arg4153=) c.12435G>A (p.Arg4145=) c.12258G>A (p.Arg4086=) c.12402G>A (p.Arg4134=) c.12474G>A (p.Arg4158=) | dbSNP COSMIC COSMIC |
1 | g.237784153G>C | CA345413264 | RYR2 | c.*3533G>C (n.*3533G>C) c.12429G>C (p.Arg4143Ser) c.12462G>C (p.Arg4154Ser) c.4618G>C c.12441G>C (p.Arg4147Ser) c.2494G>C c.12393G>C (p.Arg4131Ser) n.3636G>C c.12495G>C (p.Arg4165Ser) c.12492G>C (p.Arg4164Ser) c.12471G>C (p.Arg4157Ser) c.12465G>C (p.Arg4155Ser) c.12459G>C (p.Arg4153Ser) c.12435G>C (p.Arg4145Ser) c.12258G>C (p.Arg4086Ser) c.12402G>C (p.Arg4134Ser) c.12474G>C (p.Arg4158Ser) | COSMIC COSMIC |
1 | g.237784153G>T | CA345413266 | RYR2 | c.*3533G>T (n.*3533G>T) c.12429G>T (p.Arg4143Ser) c.12462G>T (p.Arg4154Ser) c.4618G>T c.12441G>T (p.Arg4147Ser) c.2494G>T c.12393G>T (p.Arg4131Ser) n.3636G>T c.12495G>T (p.Arg4165Ser) c.12492G>T (p.Arg4164Ser) c.12471G>T (p.Arg4157Ser) c.12465G>T (p.Arg4155Ser) c.12459G>T (p.Arg4153Ser) c.12435G>T (p.Arg4145Ser) c.12258G>T (p.Arg4086Ser) c.12402G>T (p.Arg4134Ser) c.12474G>T (p.Arg4158Ser) | |
1 | g.237784154G>A | CA345413268 | RYR2 | c.*3534G>A (n.*3534G>A) c.12430G>A (p.Val4144Ile) c.12463G>A (p.Val4155Ile) c.4619G>A c.12442G>A (p.Val4148Ile) c.2495G>A c.12394G>A (p.Val4132Ile) n.3637G>A c.12496G>A (p.Val4166Ile) c.12493G>A (p.Val4165Ile) c.12472G>A (p.Val4158Ile) c.12466G>A (p.Val4156Ile) c.12460G>A (p.Val4154Ile) c.12436G>A (p.Val4146Ile) c.12259G>A (p.Val4087Ile) c.12403G>A (p.Val4135Ile) c.12475G>A (p.Val4159Ile) | |
1 | g.237784154G>C | CA345413270 | RYR2 | c.*3534G>C (n.*3534G>C) c.12430G>C (p.Val4144Leu) c.12463G>C (p.Val4155Leu) c.4619G>C c.12442G>C (p.Val4148Leu) c.2495G>C c.12394G>C (p.Val4132Leu) n.3637G>C c.12496G>C (p.Val4166Leu) c.12493G>C (p.Val4165Leu) c.12472G>C (p.Val4158Leu) c.12466G>C (p.Val4156Leu) c.12460G>C (p.Val4154Leu) c.12436G>C (p.Val4146Leu) c.12259G>C (p.Val4087Leu) c.12403G>C (p.Val4135Leu) c.12475G>C (p.Val4159Leu) | |
1 | g.237784154G>T | CA345413271 | RYR2 | c.*3534G>T (n.*3534G>T) c.12430G>T (p.Val4144Phe) c.12463G>T (p.Val4155Phe) c.4619G>T c.12442G>T (p.Val4148Phe) c.2495G>T c.12394G>T (p.Val4132Phe) n.3637G>T c.12496G>T (p.Val4166Phe) c.12493G>T (p.Val4165Phe) c.12472G>T (p.Val4158Phe) c.12466G>T (p.Val4156Phe) c.12460G>T (p.Val4154Phe) c.12436G>T (p.Val4146Phe) c.12259G>T (p.Val4087Phe) c.12403G>T (p.Val4135Phe) c.12475G>T (p.Val4159Phe) | |
1 | g.237784155T>A | CA345413274 | RYR2 | c.*3535T>A (n.*3535T>A) c.12431T>A (p.Val4144Asp) c.12464T>A (p.Val4155Asp) c.4620T>A c.12443T>A (p.Val4148Asp) c.2496T>A c.12395T>A (p.Val4132Asp) n.3638T>A c.12497T>A (p.Val4166Asp) c.12494T>A (p.Val4165Asp) c.12473T>A (p.Val4158Asp) c.12467T>A (p.Val4156Asp) c.12461T>A (p.Val4154Asp) c.12437T>A (p.Val4146Asp) c.12260T>A (p.Val4087Asp) c.12404T>A (p.Val4135Asp) c.12476T>A (p.Val4159Asp) | |
1 | g.237784155T>C | CA345413279 | RYR2 | c.*3535T>C (n.*3535T>C) c.12431T>C (p.Val4144Ala) c.12464T>C (p.Val4155Ala) c.4620T>C c.12443T>C (p.Val4148Ala) c.2496T>C c.12395T>C (p.Val4132Ala) n.3638T>C c.12497T>C (p.Val4166Ala) c.12494T>C (p.Val4165Ala) c.12473T>C (p.Val4158Ala) c.12467T>C (p.Val4156Ala) c.12461T>C (p.Val4154Ala) c.12437T>C (p.Val4146Ala) c.12260T>C (p.Val4087Ala) c.12404T>C (p.Val4135Ala) c.12476T>C (p.Val4159Ala) | |
1 | g.237784155T>G | CA345413280 | RYR2 | c.*3535T>G (n.*3535T>G) c.12431T>G (p.Val4144Gly) c.12464T>G (p.Val4155Gly) c.4620T>G c.12443T>G (p.Val4148Gly) c.2496T>G c.12395T>G (p.Val4132Gly) n.3638T>G c.12497T>G (p.Val4166Gly) c.12494T>G (p.Val4165Gly) c.12473T>G (p.Val4158Gly) c.12467T>G (p.Val4156Gly) c.12461T>G (p.Val4154Gly) c.12437T>G (p.Val4146Gly) c.12260T>G (p.Val4087Gly) c.12404T>G (p.Val4135Gly) c.12476T>G (p.Val4159Gly) | |
1 | g.237784156C>A | CA424032199 | RYR2 | c.*3536C>A (n.*3536C>A) c.12432C>A (p.Val4144=) c.12465C>A (p.Val4155=) c.4621C>A c.12444C>A (p.Val4148=) c.2497C>A c.12396C>A (p.Val4132=) n.3639C>A c.12498C>A (p.Val4166=) c.12495C>A (p.Val4165=) c.12474C>A (p.Val4158=) c.12468C>A (p.Val4156=) c.12462C>A (p.Val4154=) c.12438C>A (p.Val4146=) c.12261C>A (p.Val4087=) c.12405C>A (p.Val4135=) c.12477C>A (p.Val4159=) | COSMIC COSMIC |
1 | g.237784156C>G | CA424032200 | RYR2 | c.*3536C>G (n.*3536C>G) c.12432C>G (p.Val4144=) c.12465C>G (p.Val4155=) c.4621C>G c.12444C>G (p.Val4148=) c.2497C>G c.12396C>G (p.Val4132=) n.3639C>G c.12498C>G (p.Val4166=) c.12495C>G (p.Val4165=) c.12474C>G (p.Val4158=) c.12468C>G (p.Val4156=) c.12462C>G (p.Val4154=) c.12438C>G (p.Val4146=) c.12261C>G (p.Val4087=) c.12405C>G (p.Val4135=) c.12477C>G (p.Val4159=) | |
1 | g.237784156C>T | CA424032201 | RYR2 | c.*3536C>T (n.*3536C>T) c.12432C>T (p.Val4144=) c.12465C>T (p.Val4155=) c.4621C>T c.12444C>T (p.Val4148=) c.2497C>T c.12396C>T (p.Val4132=) n.3639C>T c.12498C>T (p.Val4166=) c.12495C>T (p.Val4165=) c.12474C>T (p.Val4158=) c.12468C>T (p.Val4156=) c.12462C>T (p.Val4154=) c.12438C>T (p.Val4146=) c.12261C>T (p.Val4087=) c.12405C>T (p.Val4135=) c.12477C>T (p.Val4159=) | gnomAD v4 |
1 | g.237784157T>A | CA345413281 | RYR2 | c.*3537T>A (n.*3537T>A) c.12433T>A (p.Tyr4145Asn) c.12466T>A (p.Tyr4156Asn) c.4622T>A c.12445T>A (p.Tyr4149Asn) c.2498T>A c.12397T>A (p.Tyr4133Asn) n.3640T>A c.12499T>A (p.Tyr4167Asn) c.12496T>A (p.Tyr4166Asn) c.12475T>A (p.Tyr4159Asn) c.12469T>A (p.Tyr4157Asn) c.12463T>A (p.Tyr4155Asn) c.12439T>A (p.Tyr4147Asn) c.12262T>A (p.Tyr4088Asn) c.12406T>A (p.Tyr4136Asn) c.12478T>A (p.Tyr4160Asn) | |
1 | g.237784157T>C | CA345413282 | RYR2 | c.*3537T>C (n.*3537T>C) c.12433T>C (p.Tyr4145His) c.12466T>C (p.Tyr4156His) c.4622T>C c.12445T>C (p.Tyr4149His) c.2498T>C c.12397T>C (p.Tyr4133His) n.3640T>C c.12499T>C (p.Tyr4167His) c.12496T>C (p.Tyr4166His) c.12475T>C (p.Tyr4159His) c.12469T>C (p.Tyr4157His) c.12463T>C (p.Tyr4155His) c.12439T>C (p.Tyr4147His) c.12262T>C (p.Tyr4088His) c.12406T>C (p.Tyr4136His) c.12478T>C (p.Tyr4160His) | |
1 | g.237784157T>G | CA345413283 | RYR2 | c.*3537T>G (n.*3537T>G) c.12433T>G (p.Tyr4145Asp) c.12466T>G (p.Tyr4156Asp) c.4622T>G c.12445T>G (p.Tyr4149Asp) c.2498T>G c.12397T>G (p.Tyr4133Asp) n.3640T>G c.12499T>G (p.Tyr4167Asp) c.12496T>G (p.Tyr4166Asp) c.12475T>G (p.Tyr4159Asp) c.12469T>G (p.Tyr4157Asp) c.12463T>G (p.Tyr4155Asp) c.12439T>G (p.Tyr4147Asp) c.12262T>G (p.Tyr4088Asp) c.12406T>G (p.Tyr4136Asp) c.12478T>G (p.Tyr4160Asp) | |
1 | g.237784158A= | CA2487482408 | RYR2 | c.*3538A= (n.*3538A=) c.12434A= (p.Tyr4145=) c.12467A= (p.Tyr4156=) c.4623A= c.12446A= (p.Tyr4149=) c.2499A= c.12398A= (p.Tyr4133=) n.3641A= c.12500A= (p.Tyr4167=) c.12497A= (p.Tyr4166=) c.12476A= (p.Tyr4159=) c.12470A= (p.Tyr4157=) c.12464A= (p.Tyr4155=) c.12440A= (p.Tyr4147=) c.12263A= (p.Tyr4088=) c.12407A= (p.Tyr4136=) c.12479A= (p.Tyr4160=) | |
1 | g.237784158A>C | CA345413284 | RYR2 | c.*3538A>C (n.*3538A>C) c.12434A>C (p.Tyr4145Ser) c.12467A>C (p.Tyr4156Ser) c.4623A>C c.12446A>C (p.Tyr4149Ser) c.2499A>C c.12398A>C (p.Tyr4133Ser) n.3641A>C c.12500A>C (p.Tyr4167Ser) c.12497A>C (p.Tyr4166Ser) c.12476A>C (p.Tyr4159Ser) c.12470A>C (p.Tyr4157Ser) c.12464A>C (p.Tyr4155Ser) c.12440A>C (p.Tyr4147Ser) c.12263A>C (p.Tyr4088Ser) c.12407A>C (p.Tyr4136Ser) c.12479A>C (p.Tyr4160Ser) | |
1 | g.237784158A>G | CA345413286 | RYR2 | c.*3538A>G (n.*3538A>G) c.12434A>G (p.Tyr4145Cys) c.12467A>G (p.Tyr4156Cys) c.4623A>G c.12446A>G (p.Tyr4149Cys) c.2499A>G c.12398A>G (p.Tyr4133Cys) n.3641A>G c.12500A>G (p.Tyr4167Cys) c.12497A>G (p.Tyr4166Cys) c.12476A>G (p.Tyr4159Cys) c.12470A>G (p.Tyr4157Cys) c.12464A>G (p.Tyr4155Cys) c.12440A>G (p.Tyr4147Cys) c.12263A>G (p.Tyr4088Cys) c.12407A>G (p.Tyr4136Cys) c.12479A>G (p.Tyr4160Cys) | ClinVar dbSNP |
1 | g.237784158A>T | CA345413285 | RYR2 | c.*3538A>T (n.*3538A>T) c.12434A>T (p.Tyr4145Phe) c.12467A>T (p.Tyr4156Phe) c.4623A>T c.12446A>T (p.Tyr4149Phe) c.2499A>T c.12398A>T (p.Tyr4133Phe) n.3641A>T c.12500A>T (p.Tyr4167Phe) c.12497A>T (p.Tyr4166Phe) c.12476A>T (p.Tyr4159Phe) c.12470A>T (p.Tyr4157Phe) c.12464A>T (p.Tyr4155Phe) c.12440A>T (p.Tyr4147Phe) c.12263A>T (p.Tyr4088Phe) c.12407A>T (p.Tyr4136Phe) c.12479A>T (p.Tyr4160Phe) | |
1 | g.237784159T>A | CA345413287 | RYR2 | c.*3539T>A (n.*3539T>A) c.12435T>A (p.Tyr4145Ter) c.12468T>A (p.Tyr4156Ter) c.4624T>A c.12447T>A (p.Tyr4149Ter) c.2500T>A c.12399T>A (p.Tyr4133Ter) n.3642T>A c.12501T>A (p.Tyr4167Ter) c.12498T>A (p.Tyr4166Ter) c.12477T>A (p.Tyr4159Ter) c.12471T>A (p.Tyr4157Ter) c.12465T>A (p.Tyr4155Ter) c.12441T>A (p.Tyr4147Ter) c.12264T>A (p.Tyr4088Ter) c.12408T>A (p.Tyr4136Ter) c.12480T>A (p.Tyr4160Ter) | |
1 | g.237784159T>C | CA424032204 | RYR2 | c.*3539T>C (n.*3539T>C) c.12435T>C (p.Tyr4145=) c.12468T>C (p.Tyr4156=) c.4624T>C c.12447T>C (p.Tyr4149=) c.2500T>C c.12399T>C (p.Tyr4133=) n.3642T>C c.12501T>C (p.Tyr4167=) c.12498T>C (p.Tyr4166=) c.12477T>C (p.Tyr4159=) c.12471T>C (p.Tyr4157=) c.12465T>C (p.Tyr4155=) c.12441T>C (p.Tyr4147=) c.12264T>C (p.Tyr4088=) c.12408T>C (p.Tyr4136=) c.12480T>C (p.Tyr4160=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784159T>G | CA345413288 | RYR2 | c.*3539T>G (n.*3539T>G) c.12435T>G (p.Tyr4145Ter) c.12468T>G (p.Tyr4156Ter) c.4624T>G c.12447T>G (p.Tyr4149Ter) c.2500T>G c.12399T>G (p.Tyr4133Ter) n.3642T>G c.12501T>G (p.Tyr4167Ter) c.12498T>G (p.Tyr4166Ter) c.12477T>G (p.Tyr4159Ter) c.12471T>G (p.Tyr4157Ter) c.12465T>G (p.Tyr4155Ter) c.12441T>G (p.Tyr4147Ter) c.12264T>G (p.Tyr4088Ter) c.12408T>G (p.Tyr4136Ter) c.12480T>G (p.Tyr4160Ter) | |
1 | g.237784160T>A | CA345413291 | RYR2 | c.*3540T>A (n.*3540T>A) c.12436T>A (p.Phe4146Ile) c.12469T>A (p.Phe4157Ile) c.4625T>A c.12448T>A (p.Phe4150Ile) c.2501T>A c.12400T>A (p.Phe4134Ile) n.3643T>A c.12502T>A (p.Phe4168Ile) c.12499T>A (p.Phe4167Ile) c.12478T>A (p.Phe4160Ile) c.12472T>A (p.Phe4158Ile) c.12466T>A (p.Phe4156Ile) c.12442T>A (p.Phe4148Ile) c.12265T>A (p.Phe4089Ile) c.12409T>A (p.Phe4137Ile) c.12481T>A (p.Phe4161Ile) | |
1 | g.237784160T>C | CA345413293 | RYR2 | c.*3540T>C (n.*3540T>C) c.12436T>C (p.Phe4146Leu) c.12469T>C (p.Phe4157Leu) c.4625T>C c.12448T>C (p.Phe4150Leu) c.2501T>C c.12400T>C (p.Phe4134Leu) n.3643T>C c.12502T>C (p.Phe4168Leu) c.12499T>C (p.Phe4167Leu) c.12478T>C (p.Phe4160Leu) c.12472T>C (p.Phe4158Leu) c.12466T>C (p.Phe4156Leu) c.12442T>C (p.Phe4148Leu) c.12265T>C (p.Phe4089Leu) c.12409T>C (p.Phe4137Leu) c.12481T>C (p.Phe4161Leu) | gnomAD v4 |
1 | g.237784160T>G | CA345413295 | RYR2 | c.*3540T>G (n.*3540T>G) c.12436T>G (p.Phe4146Val) c.12469T>G (p.Phe4157Val) c.4625T>G c.12448T>G (p.Phe4150Val) c.2501T>G c.12400T>G (p.Phe4134Val) n.3643T>G c.12502T>G (p.Phe4168Val) c.12499T>G (p.Phe4167Val) c.12478T>G (p.Phe4160Val) c.12472T>G (p.Phe4158Val) c.12466T>G (p.Phe4156Val) c.12442T>G (p.Phe4148Val) c.12265T>G (p.Phe4089Val) c.12409T>G (p.Phe4137Val) c.12481T>G (p.Phe4161Val) | |
1 | g.237784161T>A | CA345413297 | RYR2 | c.*3541T>A (n.*3541T>A) c.12437T>A (p.Phe4146Tyr) c.12470T>A (p.Phe4157Tyr) c.4626T>A c.12449T>A (p.Phe4150Tyr) c.2502T>A c.12401T>A (p.Phe4134Tyr) n.3644T>A c.12503T>A (p.Phe4168Tyr) c.12500T>A (p.Phe4167Tyr) c.12479T>A (p.Phe4160Tyr) c.12473T>A (p.Phe4158Tyr) c.12467T>A (p.Phe4156Tyr) c.12443T>A (p.Phe4148Tyr) c.12266T>A (p.Phe4089Tyr) c.12410T>A (p.Phe4137Tyr) c.12482T>A (p.Phe4161Tyr) | |
1 | g.237784161T>C | CA345413298 | RYR2 | c.*3541T>C (n.*3541T>C) c.12437T>C (p.Phe4146Ser) c.12470T>C (p.Phe4157Ser) c.4626T>C c.12449T>C (p.Phe4150Ser) c.2502T>C c.12401T>C (p.Phe4134Ser) n.3644T>C c.12503T>C (p.Phe4168Ser) c.12500T>C (p.Phe4167Ser) c.12479T>C (p.Phe4160Ser) c.12473T>C (p.Phe4158Ser) c.12467T>C (p.Phe4156Ser) c.12443T>C (p.Phe4148Ser) c.12266T>C (p.Phe4089Ser) c.12410T>C (p.Phe4137Ser) c.12482T>C (p.Phe4161Ser) | |
1 | g.237784161T>G | CA345413300 | RYR2 | c.*3541T>G (n.*3541T>G) c.12437T>G (p.Phe4146Cys) c.12470T>G (p.Phe4157Cys) c.4626T>G c.12449T>G (p.Phe4150Cys) c.2502T>G c.12401T>G (p.Phe4134Cys) n.3644T>G c.12503T>G (p.Phe4168Cys) c.12500T>G (p.Phe4167Cys) c.12479T>G (p.Phe4160Cys) c.12473T>G (p.Phe4158Cys) c.12467T>G (p.Phe4156Cys) c.12443T>G (p.Phe4148Cys) c.12266T>G (p.Phe4089Cys) c.12410T>G (p.Phe4137Cys) c.12482T>G (p.Phe4161Cys) | |
1 | g.237784162T>A | CA345413302 | RYR2 | c.*3542T>A (n.*3542T>A) c.12438T>A (p.Phe4146Leu) c.12471T>A (p.Phe4157Leu) c.4627T>A c.12450T>A (p.Phe4150Leu) c.2503T>A c.12402T>A (p.Phe4134Leu) n.3645T>A c.12504T>A (p.Phe4168Leu) c.12501T>A (p.Phe4167Leu) c.12480T>A (p.Phe4160Leu) c.12474T>A (p.Phe4158Leu) c.12468T>A (p.Phe4156Leu) c.12444T>A (p.Phe4148Leu) c.12267T>A (p.Phe4089Leu) c.12411T>A (p.Phe4137Leu) c.12483T>A (p.Phe4161Leu) | |
1 | g.237784162T>C | CA424032206 | RYR2 | c.*3542T>C (n.*3542T>C) c.12438T>C (p.Phe4146=) c.12471T>C (p.Phe4157=) c.4627T>C c.12450T>C (p.Phe4150=) c.2503T>C c.12402T>C (p.Phe4134=) n.3645T>C c.12504T>C (p.Phe4168=) c.12501T>C (p.Phe4167=) c.12480T>C (p.Phe4160=) c.12474T>C (p.Phe4158=) c.12468T>C (p.Phe4156=) c.12444T>C (p.Phe4148=) c.12267T>C (p.Phe4089=) c.12411T>C (p.Phe4137=) c.12483T>C (p.Phe4161=) | |
1 | g.237784162T>G | CA345413304 | RYR2 | c.*3542T>G (n.*3542T>G) c.12438T>G (p.Phe4146Leu) c.12471T>G (p.Phe4157Leu) c.4627T>G c.12450T>G (p.Phe4150Leu) c.2503T>G c.12402T>G (p.Phe4134Leu) n.3645T>G c.12504T>G (p.Phe4168Leu) c.12501T>G (p.Phe4167Leu) c.12480T>G (p.Phe4160Leu) c.12474T>G (p.Phe4158Leu) c.12468T>G (p.Phe4156Leu) c.12444T>G (p.Phe4148Leu) c.12267T>G (p.Phe4089Leu) c.12411T>G (p.Phe4137Leu) c.12483T>G (p.Phe4161Leu) | |
1 | g.237784163G>A | CA345413307 | RYR2 | c.*3543G>A (n.*3543G>A) c.12439G>A (p.Glu4147Lys) c.12472G>A (p.Glu4158Lys) c.4628G>A c.12451G>A (p.Glu4151Lys) c.2504G>A c.12403G>A (p.Glu4135Lys) n.3646G>A c.12505G>A (p.Glu4169Lys) c.12502G>A (p.Glu4168Lys) c.12481G>A (p.Glu4161Lys) c.12475G>A (p.Glu4159Lys) c.12469G>A (p.Glu4157Lys) c.12445G>A (p.Glu4149Lys) c.12268G>A (p.Glu4090Lys) c.12412G>A (p.Glu4138Lys) c.12484G>A (p.Glu4162Lys) | |
1 | g.237784163G>C | CA345413308 | RYR2 | c.*3543G>C (n.*3543G>C) c.12439G>C (p.Glu4147Gln) c.12472G>C (p.Glu4158Gln) c.4628G>C c.12451G>C (p.Glu4151Gln) c.2504G>C c.12403G>C (p.Glu4135Gln) n.3646G>C c.12505G>C (p.Glu4169Gln) c.12502G>C (p.Glu4168Gln) c.12481G>C (p.Glu4161Gln) c.12475G>C (p.Glu4159Gln) c.12469G>C (p.Glu4157Gln) c.12445G>C (p.Glu4149Gln) c.12268G>C (p.Glu4090Gln) c.12412G>C (p.Glu4138Gln) c.12484G>C (p.Glu4162Gln) | |
1 | g.237784163G>T | CA345413309 | RYR2 | c.*3543G>T (n.*3543G>T) c.12439G>T (p.Glu4147Ter) c.12472G>T (p.Glu4158Ter) c.4628G>T c.12451G>T (p.Glu4151Ter) c.2504G>T c.12403G>T (p.Glu4135Ter) n.3646G>T c.12505G>T (p.Glu4169Ter) c.12502G>T (p.Glu4168Ter) c.12481G>T (p.Glu4161Ter) c.12475G>T (p.Glu4159Ter) c.12469G>T (p.Glu4157Ter) c.12445G>T (p.Glu4149Ter) c.12268G>T (p.Glu4090Ter) c.12412G>T (p.Glu4138Ter) c.12484G>T (p.Glu4162Ter) | gnomAD v4 |
1 | g.237784163_237784164delinsGA | CA2487482409 | RYR2 | c.*3543_*3544delinsGA (n.*3543_*3544delinsGA) c.12439_12440delinsGA (p.Glu4147=) c.12472_12473delinsGA (p.Glu4158=) c.4628_4629delinsGA c.12451_12452delinsGA (p.Glu4151=) c.2504_2505delinsGA c.12403_12404delinsGA (p.Glu4135=) n.3646_3647delinsGA c.12505_12506delinsGA (p.Glu4169=) c.12502_12503delinsGA (p.Glu4168=) c.12481_12482delinsGA (p.Glu4161=) c.12475_12476delinsGA (p.Glu4159=) c.12469_12470delinsGA (p.Glu4157=) c.12445_12446delinsGA (p.Glu4149=) c.12268_12269delinsGA (p.Glu4090=) c.12412_12413delinsGA (p.Glu4138=) c.12484_12485delinsGA (p.Glu4162=) | |
1 | g.237784164A>C | CA345413313 | RYR2 | c.*3544A>C (n.*3544A>C) c.12440A>C (p.Glu4147Ala) c.12473A>C (p.Glu4158Ala) c.4629A>C c.12452A>C (p.Glu4151Ala) c.2505A>C c.12404A>C (p.Glu4135Ala) n.3647A>C c.12506A>C (p.Glu4169Ala) c.12503A>C (p.Glu4168Ala) c.12482A>C (p.Glu4161Ala) c.12476A>C (p.Glu4159Ala) c.12470A>C (p.Glu4157Ala) c.12446A>C (p.Glu4149Ala) c.12269A>C (p.Glu4090Ala) c.12413A>C (p.Glu4138Ala) c.12485A>C (p.Glu4162Ala) | |
1 | g.237784164A>G | CA345413311 | RYR2 | c.*3544A>G (n.*3544A>G) c.12440A>G (p.Glu4147Gly) c.12473A>G (p.Glu4158Gly) c.4629A>G c.12452A>G (p.Glu4151Gly) c.2505A>G c.12404A>G (p.Glu4135Gly) n.3647A>G c.12506A>G (p.Glu4169Gly) c.12503A>G (p.Glu4168Gly) c.12482A>G (p.Glu4161Gly) c.12476A>G (p.Glu4159Gly) c.12470A>G (p.Glu4157Gly) c.12446A>G (p.Glu4149Gly) c.12269A>G (p.Glu4090Gly) c.12413A>G (p.Glu4138Gly) c.12485A>G (p.Glu4162Gly) | |
1 | g.237784164A>T | CA345413310 | RYR2 | c.*3544A>T (n.*3544A>T) c.12440A>T (p.Glu4147Val) c.12473A>T (p.Glu4158Val) c.4629A>T c.12452A>T (p.Glu4151Val) c.2505A>T c.12404A>T (p.Glu4135Val) n.3647A>T c.12506A>T (p.Glu4169Val) c.12503A>T (p.Glu4168Val) c.12482A>T (p.Glu4161Val) c.12476A>T (p.Glu4159Val) c.12470A>T (p.Glu4157Val) c.12446A>T (p.Glu4149Val) c.12269A>T (p.Glu4090Val) c.12413A>T (p.Glu4138Val) c.12485A>T (p.Glu4162Val) | |
1 | g.237784166del | CA2487482410 | RYR2 | c.*3546del (n.*3546del) c.12442del (p.Ile4148SerfsTer?) c.12475del (p.Ile4159SerfsTer?) c.4631del c.12454del (p.Ile4152SerfsTer?) c.2507del c.12406del (p.Ile4136SerfsTer?) n.3649del c.12508del (p.Ile4170SerfsTer?) c.12505del (p.Ile4169SerfsTer?) c.12484del (p.Ile4162SerfsTer?) c.12478del (p.Ile4160SerfsTer?) c.12472del (p.Ile4158SerfsTer?) c.12448del (p.Ile4150SerfsTer?) c.12271del (p.Ile4091SerfsTer?) c.12415del (p.Ile4139SerfsTer?) c.12487del (p.Ile4163SerfsTer?) | dbSNP |
1 | g.237784165A>C | CA345413315 | RYR2 | c.*3545A>C (n.*3545A>C) c.12441A>C (p.Glu4147Asp) c.12474A>C (p.Glu4158Asp) c.4630A>C c.12453A>C (p.Glu4151Asp) c.2506A>C c.12405A>C (p.Glu4135Asp) n.3648A>C c.12507A>C (p.Glu4169Asp) c.12504A>C (p.Glu4168Asp) c.12483A>C (p.Glu4161Asp) c.12477A>C (p.Glu4159Asp) c.12471A>C (p.Glu4157Asp) c.12447A>C (p.Glu4149Asp) c.12270A>C (p.Glu4090Asp) c.12414A>C (p.Glu4138Asp) c.12486A>C (p.Glu4162Asp) | |
1 | g.237784165A>G | CA424032207 | RYR2 | c.*3545A>G (n.*3545A>G) c.12441A>G (p.Glu4147=) c.12474A>G (p.Glu4158=) c.4630A>G c.12453A>G (p.Glu4151=) c.2506A>G c.12405A>G (p.Glu4135=) n.3648A>G c.12507A>G (p.Glu4169=) c.12504A>G (p.Glu4168=) c.12483A>G (p.Glu4161=) c.12477A>G (p.Glu4159=) c.12471A>G (p.Glu4157=) c.12447A>G (p.Glu4149=) c.12270A>G (p.Glu4090=) c.12414A>G (p.Glu4138=) c.12486A>G (p.Glu4162=) | |
1 | g.237784165A>T | CA345413317 | RYR2 | c.*3545A>T (n.*3545A>T) c.12441A>T (p.Glu4147Asp) c.12474A>T (p.Glu4158Asp) c.4630A>T c.12453A>T (p.Glu4151Asp) c.2506A>T c.12405A>T (p.Glu4135Asp) n.3648A>T c.12507A>T (p.Glu4169Asp) c.12504A>T (p.Glu4168Asp) c.12483A>T (p.Glu4161Asp) c.12477A>T (p.Glu4159Asp) c.12471A>T (p.Glu4157Asp) c.12447A>T (p.Glu4149Asp) c.12270A>T (p.Glu4090Asp) c.12414A>T (p.Glu4138Asp) c.12486A>T (p.Glu4162Asp) | |
1 | g.237784166A>C | CA345413320 | RYR2 | c.*3546A>C (n.*3546A>C) c.12442A>C (p.Ile4148Leu) c.12475A>C (p.Ile4159Leu) c.4631A>C c.12454A>C (p.Ile4152Leu) c.2507A>C c.12406A>C (p.Ile4136Leu) n.3649A>C c.12508A>C (p.Ile4170Leu) c.12505A>C (p.Ile4169Leu) c.12484A>C (p.Ile4162Leu) c.12478A>C (p.Ile4160Leu) c.12472A>C (p.Ile4158Leu) c.12448A>C (p.Ile4150Leu) c.12271A>C (p.Ile4091Leu) c.12415A>C (p.Ile4139Leu) c.12487A>C (p.Ile4163Leu) | ClinVar dbSNP |
1 | g.237784166A>G | CA345413321 | RYR2 | c.*3546A>G (n.*3546A>G) c.12442A>G (p.Ile4148Val) c.12475A>G (p.Ile4159Val) c.4631A>G c.12454A>G (p.Ile4152Val) c.2507A>G c.12406A>G (p.Ile4136Val) n.3649A>G c.12508A>G (p.Ile4170Val) c.12505A>G (p.Ile4169Val) c.12484A>G (p.Ile4162Val) c.12478A>G (p.Ile4160Val) c.12472A>G (p.Ile4158Val) c.12448A>G (p.Ile4150Val) c.12271A>G (p.Ile4091Val) c.12415A>G (p.Ile4139Val) c.12487A>G (p.Ile4163Val) | gnomAD v4 |
1 | g.237784166A>T | CA345413322 | RYR2 | c.*3546A>T (n.*3546A>T) c.12442A>T (p.Ile4148Phe) c.12475A>T (p.Ile4159Phe) c.4631A>T c.12454A>T (p.Ile4152Phe) c.2507A>T c.12406A>T (p.Ile4136Phe) n.3649A>T c.12508A>T (p.Ile4170Phe) c.12505A>T (p.Ile4169Phe) c.12484A>T (p.Ile4162Phe) c.12478A>T (p.Ile4160Phe) c.12472A>T (p.Ile4158Phe) c.12448A>T (p.Ile4150Phe) c.12271A>T (p.Ile4091Phe) c.12415A>T (p.Ile4139Phe) c.12487A>T (p.Ile4163Phe) | |
1 | g.237784167T>A | CA345413323 | RYR2 | c.*3547T>A (n.*3547T>A) c.12443T>A (p.Ile4148Asn) c.12476T>A (p.Ile4159Asn) c.4632T>A c.12455T>A (p.Ile4152Asn) c.2508T>A c.12407T>A (p.Ile4136Asn) n.3650T>A c.12509T>A (p.Ile4170Asn) c.12506T>A (p.Ile4169Asn) c.12485T>A (p.Ile4162Asn) c.12479T>A (p.Ile4160Asn) c.12473T>A (p.Ile4158Asn) c.12449T>A (p.Ile4150Asn) c.12272T>A (p.Ile4091Asn) c.12416T>A (p.Ile4139Asn) c.12488T>A (p.Ile4163Asn) | ClinVar dbSNP |
1 | g.237784167T>C | CA345413324 | RYR2 | c.*3547T>C (n.*3547T>C) c.12443T>C (p.Ile4148Thr) c.12476T>C (p.Ile4159Thr) c.4632T>C c.12455T>C (p.Ile4152Thr) c.2508T>C c.12407T>C (p.Ile4136Thr) n.3650T>C c.12509T>C (p.Ile4170Thr) c.12506T>C (p.Ile4169Thr) c.12485T>C (p.Ile4162Thr) c.12479T>C (p.Ile4160Thr) c.12473T>C (p.Ile4158Thr) c.12449T>C (p.Ile4150Thr) c.12272T>C (p.Ile4091Thr) c.12416T>C (p.Ile4139Thr) c.12488T>C (p.Ile4163Thr) | |
1 | g.237784167T>G | CA345413326 | RYR2 | c.*3547T>G (n.*3547T>G) c.12443T>G (p.Ile4148Ser) c.12476T>G (p.Ile4159Ser) c.4632T>G c.12455T>G (p.Ile4152Ser) c.2508T>G c.12407T>G (p.Ile4136Ser) n.3650T>G c.12509T>G (p.Ile4170Ser) c.12506T>G (p.Ile4169Ser) c.12485T>G (p.Ile4162Ser) c.12479T>G (p.Ile4160Ser) c.12473T>G (p.Ile4158Ser) c.12449T>G (p.Ile4150Ser) c.12272T>G (p.Ile4091Ser) c.12416T>G (p.Ile4139Ser) c.12488T>G (p.Ile4163Ser) | |
1 | g.237784167T= | CA2487482411 | RYR2 | c.*3547T= (n.*3547T=) c.12443T= (p.Ile4148=) c.12476T= (p.Ile4159=) c.4632T= c.12455T= (p.Ile4152=) c.2508T= c.12407T= (p.Ile4136=) n.3650T= c.12509T= (p.Ile4170=) c.12506T= (p.Ile4169=) c.12485T= (p.Ile4162=) c.12479T= (p.Ile4160=) c.12473T= (p.Ile4158=) c.12449T= (p.Ile4150=) c.12272T= (p.Ile4091=) c.12416T= (p.Ile4139=) c.12488T= (p.Ile4163=) | |
1 | g.237784168C>A | CA424032211 | RYR2 | c.*3548C>A (n.*3548C>A) c.12444C>A (p.Ile4148=) c.12477C>A (p.Ile4159=) c.4633C>A c.12456C>A (p.Ile4152=) c.2509C>A c.12408C>A (p.Ile4136=) n.3651C>A c.12510C>A (p.Ile4170=) c.12507C>A (p.Ile4169=) c.12486C>A (p.Ile4162=) c.12480C>A (p.Ile4160=) c.12474C>A (p.Ile4158=) c.12450C>A (p.Ile4150=) c.12273C>A (p.Ile4091=) c.12417C>A (p.Ile4139=) c.12489C>A (p.Ile4163=) | COSMIC COSMIC |
1 | g.237784168C>G | CA345413329 | RYR2 | c.*3548C>G (n.*3548C>G) c.12444C>G (p.Ile4148Met) c.12477C>G (p.Ile4159Met) c.4633C>G c.12456C>G (p.Ile4152Met) c.2509C>G c.12408C>G (p.Ile4136Met) n.3651C>G c.12510C>G (p.Ile4170Met) c.12507C>G (p.Ile4169Met) c.12486C>G (p.Ile4162Met) c.12480C>G (p.Ile4160Met) c.12474C>G (p.Ile4158Met) c.12450C>G (p.Ile4150Met) c.12273C>G (p.Ile4091Met) c.12417C>G (p.Ile4139Met) c.12489C>G (p.Ile4163Met) | |
1 | g.237784168C>T | CA424032212 | RYR2 | c.*3548C>T (n.*3548C>T) c.12444C>T (p.Ile4148=) c.12477C>T (p.Ile4159=) c.4633C>T c.12456C>T (p.Ile4152=) c.2509C>T c.12408C>T (p.Ile4136=) n.3651C>T c.12510C>T (p.Ile4170=) c.12507C>T (p.Ile4169=) c.12486C>T (p.Ile4162=) c.12480C>T (p.Ile4160=) c.12474C>T (p.Ile4158=) c.12450C>T (p.Ile4150=) c.12273C>T (p.Ile4091=) c.12417C>T (p.Ile4139=) c.12489C>T (p.Ile4163=) | ClinVar COSMIC COSMIC |
1 | g.237784169A= | CA2487482412 | RYR2 | c.*3549A= (n.*3549A=) c.12445A= (p.Ser4149=) c.12478A= (p.Ser4160=) c.4634A= c.12457A= (p.Ser4153=) c.2510A= c.12409A= (p.Ser4137=) n.3652A= c.12511A= (p.Ser4171=) c.12508A= (p.Ser4170=) c.12487A= (p.Ser4163=) c.12481A= (p.Ser4161=) c.12475A= (p.Ser4159=) c.12451A= (p.Ser4151=) c.12274A= (p.Ser4092=) c.12418A= (p.Ser4140=) c.12490A= (p.Ser4164=) | |
1 | g.237784169A>C | CA345413330 | RYR2 | c.*3549A>C (n.*3549A>C) c.12445A>C (p.Ser4149Arg) c.12478A>C (p.Ser4160Arg) c.4634A>C c.12457A>C (p.Ser4153Arg) c.2510A>C c.12409A>C (p.Ser4137Arg) n.3652A>C c.12511A>C (p.Ser4171Arg) c.12508A>C (p.Ser4170Arg) c.12487A>C (p.Ser4163Arg) c.12481A>C (p.Ser4161Arg) c.12475A>C (p.Ser4159Arg) c.12451A>C (p.Ser4151Arg) c.12274A>C (p.Ser4092Arg) c.12418A>C (p.Ser4140Arg) c.12490A>C (p.Ser4164Arg) | dbSNP gnomAD v4 |
1 | g.237784169A>G | CA345413335 | RYR2 | c.*3549A>G (n.*3549A>G) c.12445A>G (p.Ser4149Gly) c.12478A>G (p.Ser4160Gly) c.4634A>G c.12457A>G (p.Ser4153Gly) c.2510A>G c.12409A>G (p.Ser4137Gly) n.3652A>G c.12511A>G (p.Ser4171Gly) c.12508A>G (p.Ser4170Gly) c.12487A>G (p.Ser4163Gly) c.12481A>G (p.Ser4161Gly) c.12475A>G (p.Ser4159Gly) c.12451A>G (p.Ser4151Gly) c.12274A>G (p.Ser4092Gly) c.12418A>G (p.Ser4140Gly) c.12490A>G (p.Ser4164Gly) | |
1 | g.237784169A>T | CA345413337 | RYR2 | c.*3549A>T (n.*3549A>T) c.12445A>T (p.Ser4149Cys) c.12478A>T (p.Ser4160Cys) c.4634A>T c.12457A>T (p.Ser4153Cys) c.2510A>T c.12409A>T (p.Ser4137Cys) n.3652A>T c.12511A>T (p.Ser4171Cys) c.12508A>T (p.Ser4170Cys) c.12487A>T (p.Ser4163Cys) c.12481A>T (p.Ser4161Cys) c.12475A>T (p.Ser4159Cys) c.12451A>T (p.Ser4151Cys) c.12274A>T (p.Ser4092Cys) c.12418A>T (p.Ser4140Cys) c.12490A>T (p.Ser4164Cys) | |
1 | g.237784170G>A | CA345413342 | RYR2 | c.*3550G>A (n.*3550G>A) c.12446G>A (p.Ser4149Asn) c.12479G>A (p.Ser4160Asn) c.4635G>A c.12458G>A (p.Ser4153Asn) c.2511G>A c.12410G>A (p.Ser4137Asn) n.3653G>A c.12512G>A (p.Ser4171Asn) c.12509G>A (p.Ser4170Asn) c.12488G>A (p.Ser4163Asn) c.12482G>A (p.Ser4161Asn) c.12476G>A (p.Ser4159Asn) c.12452G>A (p.Ser4151Asn) c.12275G>A (p.Ser4092Asn) c.12419G>A (p.Ser4140Asn) c.12491G>A (p.Ser4164Asn) | dbSNP COSMIC COSMIC |
1 | g.237784170G>C | CA39827643 | RYR2 | c.*3550G>C (n.*3550G>C) c.12446G>C (p.Ser4149Thr) c.12479G>C (p.Ser4160Thr) c.4635G>C c.12458G>C (p.Ser4153Thr) c.2511G>C c.12410G>C (p.Ser4137Thr) n.3653G>C c.12512G>C (p.Ser4171Thr) c.12509G>C (p.Ser4170Thr) c.12488G>C (p.Ser4163Thr) c.12482G>C (p.Ser4161Thr) c.12476G>C (p.Ser4159Thr) c.12452G>C (p.Ser4151Thr) c.12275G>C (p.Ser4092Thr) c.12419G>C (p.Ser4140Thr) c.12491G>C (p.Ser4164Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.237784170G= | CA2487482413 | RYR2 | c.*3550G= (n.*3550G=) c.12446G= (p.Ser4149=) c.12479G= (p.Ser4160=) c.4635G= c.12458G= (p.Ser4153=) c.2511G= c.12410G= (p.Ser4137=) n.3653G= c.12512G= (p.Ser4171=) c.12509G= (p.Ser4170=) c.12488G= (p.Ser4163=) c.12482G= (p.Ser4161=) c.12476G= (p.Ser4159=) c.12452G= (p.Ser4151=) c.12275G= (p.Ser4092=) c.12419G= (p.Ser4140=) c.12491G= (p.Ser4164=) | |
1 | g.237784170G>T | CA345413339 | RYR2 | c.*3550G>T (n.*3550G>T) c.12446G>T (p.Ser4149Ile) c.12479G>T (p.Ser4160Ile) c.4635G>T c.12458G>T (p.Ser4153Ile) c.2511G>T c.12410G>T (p.Ser4137Ile) n.3653G>T c.12512G>T (p.Ser4171Ile) c.12509G>T (p.Ser4170Ile) c.12488G>T (p.Ser4163Ile) c.12482G>T (p.Ser4161Ile) c.12476G>T (p.Ser4159Ile) c.12452G>T (p.Ser4151Ile) c.12275G>T (p.Ser4092Ile) c.12419G>T (p.Ser4140Ile) c.12491G>T (p.Ser4164Ile) | ClinVar dbSNP COSMIC |
1 | g.237784171T>A | CA345413344 | RYR2 | c.*3551T>A (n.*3551T>A) c.12447T>A (p.Ser4149Arg) c.12480T>A (p.Ser4160Arg) c.4636T>A c.12459T>A (p.Ser4153Arg) c.2512T>A c.12411T>A (p.Ser4137Arg) n.3654T>A c.12513T>A (p.Ser4171Arg) c.12510T>A (p.Ser4170Arg) c.12489T>A (p.Ser4163Arg) c.12483T>A (p.Ser4161Arg) c.12477T>A (p.Ser4159Arg) c.12453T>A (p.Ser4151Arg) c.12276T>A (p.Ser4092Arg) c.12420T>A (p.Ser4140Arg) c.12492T>A (p.Ser4164Arg) | |
1 | g.237784171T>C | CA424032213 | RYR2 | c.*3551T>C (n.*3551T>C) c.12447T>C (p.Ser4149=) c.12480T>C (p.Ser4160=) c.4636T>C c.12459T>C (p.Ser4153=) c.2512T>C c.12411T>C (p.Ser4137=) n.3654T>C c.12513T>C (p.Ser4171=) c.12510T>C (p.Ser4170=) c.12489T>C (p.Ser4163=) c.12483T>C (p.Ser4161=) c.12477T>C (p.Ser4159=) c.12453T>C (p.Ser4151=) c.12276T>C (p.Ser4092=) c.12420T>C (p.Ser4140=) c.12492T>C (p.Ser4164=) | |
1 | g.237784171T>G | CA345413345 | RYR2 | c.*3551T>G (n.*3551T>G) c.12447T>G (p.Ser4149Arg) c.12480T>G (p.Ser4160Arg) c.4636T>G c.12459T>G (p.Ser4153Arg) c.2512T>G c.12411T>G (p.Ser4137Arg) n.3654T>G c.12513T>G (p.Ser4171Arg) c.12510T>G (p.Ser4170Arg) c.12489T>G (p.Ser4163Arg) c.12483T>G (p.Ser4161Arg) c.12477T>G (p.Ser4159Arg) c.12453T>G (p.Ser4151Arg) c.12276T>G (p.Ser4092Arg) c.12420T>G (p.Ser4140Arg) c.12492T>G (p.Ser4164Arg) | |
1 | g.237784172G>A | CA345413347 | RYR2 | c.*3552G>A (n.*3552G>A) c.12448G>A (p.Glu4150Lys) c.12481G>A (p.Glu4161Lys) c.4637G>A c.12460G>A (p.Glu4154Lys) c.2513G>A c.12412G>A (p.Glu4138Lys) n.3655G>A c.12514G>A (p.Glu4172Lys) c.12511G>A (p.Glu4171Lys) c.12490G>A (p.Glu4164Lys) c.12484G>A (p.Glu4162Lys) c.12478G>A (p.Glu4160Lys) c.12454G>A (p.Glu4152Lys) c.12277G>A (p.Glu4093Lys) c.12421G>A (p.Glu4141Lys) c.12493G>A (p.Glu4165Lys) | |
1 | g.237784172G>C | CA345413350 | RYR2 | c.*3552G>C (n.*3552G>C) c.12448G>C (p.Glu4150Gln) c.12481G>C (p.Glu4161Gln) c.4637G>C c.12460G>C (p.Glu4154Gln) c.2513G>C c.12412G>C (p.Glu4138Gln) n.3655G>C c.12514G>C (p.Glu4172Gln) c.12511G>C (p.Glu4171Gln) c.12490G>C (p.Glu4164Gln) c.12484G>C (p.Glu4162Gln) c.12478G>C (p.Glu4160Gln) c.12454G>C (p.Glu4152Gln) c.12277G>C (p.Glu4093Gln) c.12421G>C (p.Glu4141Gln) c.12493G>C (p.Glu4165Gln) | |
1 | g.237784172G>T | CA345413351 | RYR2 | c.*3552G>T (n.*3552G>T) c.12448G>T (p.Glu4150Ter) c.12481G>T (p.Glu4161Ter) c.4637G>T c.12460G>T (p.Glu4154Ter) c.2513G>T c.12412G>T (p.Glu4138Ter) n.3655G>T c.12514G>T (p.Glu4172Ter) c.12511G>T (p.Glu4171Ter) c.12490G>T (p.Glu4164Ter) c.12484G>T (p.Glu4162Ter) c.12478G>T (p.Glu4160Ter) c.12454G>T (p.Glu4152Ter) c.12277G>T (p.Glu4093Ter) c.12421G>T (p.Glu4141Ter) c.12493G>T (p.Glu4165Ter) | |
1 | g.237784173A>C | CA345413361 | RYR2 | c.*3553A>C (n.*3553A>C) c.12449A>C (p.Glu4150Ala) c.12482A>C (p.Glu4161Ala) c.4638A>C c.12461A>C (p.Glu4154Ala) c.2514A>C c.12413A>C (p.Glu4138Ala) n.3656A>C c.12515A>C (p.Glu4172Ala) c.12512A>C (p.Glu4171Ala) c.12491A>C (p.Glu4164Ala) c.12485A>C (p.Glu4162Ala) c.12479A>C (p.Glu4160Ala) c.12455A>C (p.Glu4152Ala) c.12278A>C (p.Glu4093Ala) c.12422A>C (p.Glu4141Ala) c.12494A>C (p.Glu4165Ala) | |
1 | g.237784173A>G | CA345413357 | RYR2 | c.*3553A>G (n.*3553A>G) c.12449A>G (p.Glu4150Gly) c.12482A>G (p.Glu4161Gly) c.4638A>G c.12461A>G (p.Glu4154Gly) c.2514A>G c.12413A>G (p.Glu4138Gly) n.3656A>G c.12515A>G (p.Glu4172Gly) c.12512A>G (p.Glu4171Gly) c.12491A>G (p.Glu4164Gly) c.12485A>G (p.Glu4162Gly) c.12479A>G (p.Glu4160Gly) c.12455A>G (p.Glu4152Gly) c.12278A>G (p.Glu4093Gly) c.12422A>G (p.Glu4141Gly) c.12494A>G (p.Glu4165Gly) | |
1 | g.237784173A>T | CA345413355 | RYR2 | c.*3553A>T (n.*3553A>T) c.12449A>T (p.Glu4150Val) c.12482A>T (p.Glu4161Val) c.4638A>T c.12461A>T (p.Glu4154Val) c.2514A>T c.12413A>T (p.Glu4138Val) n.3656A>T c.12515A>T (p.Glu4172Val) c.12512A>T (p.Glu4171Val) c.12491A>T (p.Glu4164Val) c.12485A>T (p.Glu4162Val) c.12479A>T (p.Glu4160Val) c.12455A>T (p.Glu4152Val) c.12278A>T (p.Glu4093Val) c.12422A>T (p.Glu4141Val) c.12494A>T (p.Glu4165Val) | |
1 | g.237784174G>A | CA085185 | RYR2 | c.*3554G>A (n.*3554G>A) c.12450G>A (p.Glu4150=) c.12483G>A (p.Glu4161=) c.4639G>A c.12462G>A (p.Glu4154=) c.2515G>A c.12414G>A (p.Glu4138=) n.3657G>A c.12516G>A (p.Glu4172=) c.12513G>A (p.Glu4171=) c.12492G>A (p.Glu4164=) c.12486G>A (p.Glu4162=) c.12480G>A (p.Glu4160=) c.12456G>A (p.Glu4152=) c.12279G>A (p.Glu4093=) c.12423G>A (p.Glu4141=) c.12495G>A (p.Glu4165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784174G>C | CA345413364 | RYR2 | c.*3554G>C (n.*3554G>C) c.12450G>C (p.Glu4150Asp) c.12483G>C (p.Glu4161Asp) c.4639G>C c.12462G>C (p.Glu4154Asp) c.2515G>C c.12414G>C (p.Glu4138Asp) n.3657G>C c.12516G>C (p.Glu4172Asp) c.12513G>C (p.Glu4171Asp) c.12492G>C (p.Glu4164Asp) c.12486G>C (p.Glu4162Asp) c.12480G>C (p.Glu4160Asp) c.12456G>C (p.Glu4152Asp) c.12279G>C (p.Glu4093Asp) c.12423G>C (p.Glu4141Asp) c.12495G>C (p.Glu4165Asp) | |
1 | g.237784174G= | CA2487482414 | RYR2 | c.*3554G= (n.*3554G=) c.12450G= (p.Glu4150=) c.12483G= (p.Glu4161=) c.4639G= c.12462G= (p.Glu4154=) c.2515G= c.12414G= (p.Glu4138=) n.3657G= c.12516G= (p.Glu4172=) c.12513G= (p.Glu4171=) c.12492G= (p.Glu4164=) c.12486G= (p.Glu4162=) c.12480G= (p.Glu4160=) c.12456G= (p.Glu4152=) c.12279G= (p.Glu4093=) c.12423G= (p.Glu4141=) c.12495G= (p.Glu4165=) | |
1 | g.237784174G>T | CA345413365 | RYR2 | c.*3554G>T (n.*3554G>T) c.12450G>T (p.Glu4150Asp) c.12483G>T (p.Glu4161Asp) c.4639G>T c.12462G>T (p.Glu4154Asp) c.2515G>T c.12414G>T (p.Glu4138Asp) n.3657G>T c.12516G>T (p.Glu4172Asp) c.12513G>T (p.Glu4171Asp) c.12492G>T (p.Glu4164Asp) c.12486G>T (p.Glu4162Asp) c.12480G>T (p.Glu4160Asp) c.12456G>T (p.Glu4152Asp) c.12279G>T (p.Glu4093Asp) c.12423G>T (p.Glu4141Asp) c.12495G>T (p.Glu4165Asp) | |
1 | g.237784175T>A | CA16610026 | RYR2 | c.*3555T>A (n.*3555T>A) c.12451T>A (p.Ser4151Thr) c.12484T>A (p.Ser4162Thr) c.4640T>A c.12463T>A (p.Ser4155Thr) c.2516T>A c.12415T>A (p.Ser4139Thr) n.3658T>A c.12517T>A (p.Ser4173Thr) c.12514T>A (p.Ser4172Thr) c.12493T>A (p.Ser4165Thr) c.12487T>A (p.Ser4163Thr) c.12481T>A (p.Ser4161Thr) c.12457T>A (p.Ser4153Thr) c.12280T>A (p.Ser4094Thr) c.12424T>A (p.Ser4142Thr) c.12496T>A (p.Ser4166Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784175T>C | CA345413368 | RYR2 | c.*3555T>C (n.*3555T>C) c.12451T>C (p.Ser4151Pro) c.12484T>C (p.Ser4162Pro) c.4640T>C c.12463T>C (p.Ser4155Pro) c.2516T>C c.12415T>C (p.Ser4139Pro) n.3658T>C c.12517T>C (p.Ser4173Pro) c.12514T>C (p.Ser4172Pro) c.12493T>C (p.Ser4165Pro) c.12487T>C (p.Ser4163Pro) c.12481T>C (p.Ser4161Pro) c.12457T>C (p.Ser4153Pro) c.12280T>C (p.Ser4094Pro) c.12424T>C (p.Ser4142Pro) c.12496T>C (p.Ser4166Pro) | dbSNP |
1 | g.237784175T>G | CA345413373 | RYR2 | c.*3555T>G (n.*3555T>G) c.12451T>G (p.Ser4151Ala) c.12484T>G (p.Ser4162Ala) c.4640T>G c.12463T>G (p.Ser4155Ala) c.2516T>G c.12415T>G (p.Ser4139Ala) n.3658T>G c.12517T>G (p.Ser4173Ala) c.12514T>G (p.Ser4172Ala) c.12493T>G (p.Ser4165Ala) c.12487T>G (p.Ser4163Ala) c.12481T>G (p.Ser4161Ala) c.12457T>G (p.Ser4153Ala) c.12280T>G (p.Ser4094Ala) c.12424T>G (p.Ser4142Ala) c.12496T>G (p.Ser4166Ala) | |
1 | g.237784175T= | CA2487482415 | RYR2 | c.*3555T= (n.*3555T=) c.12451T= (p.Ser4151=) c.12484T= (p.Ser4162=) c.4640T= c.12463T= (p.Ser4155=) c.2516T= c.12415T= (p.Ser4139=) n.3658T= c.12517T= (p.Ser4173=) c.12514T= (p.Ser4172=) c.12493T= (p.Ser4165=) c.12487T= (p.Ser4163=) c.12481T= (p.Ser4161=) c.12457T= (p.Ser4153=) c.12280T= (p.Ser4094=) c.12424T= (p.Ser4142=) c.12496T= (p.Ser4166=) | |
1 | g.237784176C>A | CA345413376 | RYR2 | c.*3556C>A (n.*3556C>A) c.12452C>A (p.Ser4151Tyr) c.12485C>A (p.Ser4162Tyr) c.4641C>A c.12464C>A (p.Ser4155Tyr) c.2517C>A c.12416C>A (p.Ser4139Tyr) n.3659C>A c.12518C>A (p.Ser4173Tyr) c.12515C>A (p.Ser4172Tyr) c.12494C>A (p.Ser4165Tyr) c.12488C>A (p.Ser4163Tyr) c.12482C>A (p.Ser4161Tyr) c.12458C>A (p.Ser4153Tyr) c.12281C>A (p.Ser4094Tyr) c.12425C>A (p.Ser4142Tyr) c.12497C>A (p.Ser4166Tyr) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784176C>G | CA345413381 | RYR2 | c.*3556C>G (n.*3556C>G) c.12452C>G (p.Ser4151Cys) c.12485C>G (p.Ser4162Cys) c.4641C>G c.12464C>G (p.Ser4155Cys) c.2517C>G c.12416C>G (p.Ser4139Cys) n.3659C>G c.12518C>G (p.Ser4173Cys) c.12515C>G (p.Ser4172Cys) c.12494C>G (p.Ser4165Cys) c.12488C>G (p.Ser4163Cys) c.12482C>G (p.Ser4161Cys) c.12458C>G (p.Ser4153Cys) c.12281C>G (p.Ser4094Cys) c.12425C>G (p.Ser4142Cys) c.12497C>G (p.Ser4166Cys) | |
1 | g.237784176C>T | CA345413378 | RYR2 | c.*3556C>T (n.*3556C>T) c.12452C>T (p.Ser4151Phe) c.12485C>T (p.Ser4162Phe) c.4641C>T c.12464C>T (p.Ser4155Phe) c.2517C>T c.12416C>T (p.Ser4139Phe) n.3659C>T c.12518C>T (p.Ser4173Phe) c.12515C>T (p.Ser4172Phe) c.12494C>T (p.Ser4165Phe) c.12488C>T (p.Ser4163Phe) c.12482C>T (p.Ser4161Phe) c.12458C>T (p.Ser4153Phe) c.12281C>T (p.Ser4094Phe) c.12425C>T (p.Ser4142Phe) c.12497C>T (p.Ser4166Phe) | |
1 | g.237784177C>A | CA424032218 | RYR2 | c.*3557C>A (n.*3557C>A) c.12453C>A (p.Ser4151=) c.12486C>A (p.Ser4162=) c.4642C>A c.12465C>A (p.Ser4155=) c.2518C>A c.12417C>A (p.Ser4139=) n.3660C>A c.12519C>A (p.Ser4173=) c.12516C>A (p.Ser4172=) c.12495C>A (p.Ser4165=) c.12489C>A (p.Ser4163=) c.12483C>A (p.Ser4161=) c.12459C>A (p.Ser4153=) c.12282C>A (p.Ser4094=) c.12426C>A (p.Ser4142=) c.12498C>A (p.Ser4166=) | |
1 | g.237784177C>G | CA424032219 | RYR2 | c.*3557C>G (n.*3557C>G) c.12453C>G (p.Ser4151=) c.12486C>G (p.Ser4162=) c.4642C>G c.12465C>G (p.Ser4155=) c.2518C>G c.12417C>G (p.Ser4139=) n.3660C>G c.12519C>G (p.Ser4173=) c.12516C>G (p.Ser4172=) c.12495C>G (p.Ser4165=) c.12489C>G (p.Ser4163=) c.12483C>G (p.Ser4161=) c.12459C>G (p.Ser4153=) c.12282C>G (p.Ser4094=) c.12426C>G (p.Ser4142=) c.12498C>G (p.Ser4166=) | |
1 | g.237784177C>T | CA424032220 | RYR2 | c.*3557C>T (n.*3557C>T) c.12453C>T (p.Ser4151=) c.12486C>T (p.Ser4162=) c.4642C>T c.12465C>T (p.Ser4155=) c.2518C>T c.12417C>T (p.Ser4139=) n.3660C>T c.12519C>T (p.Ser4173=) c.12516C>T (p.Ser4172=) c.12495C>T (p.Ser4165=) c.12489C>T (p.Ser4163=) c.12483C>T (p.Ser4161=) c.12459C>T (p.Ser4153=) c.12282C>T (p.Ser4094=) c.12426C>T (p.Ser4142=) c.12498C>T (p.Ser4166=) | gnomAD v4 |
1 | g.237784178A>C | CA345413383 | RYR2 | c.*3558A>C (n.*3558A>C) c.12454A>C (p.Ser4152Arg) c.12487A>C (p.Ser4163Arg) c.4643A>C c.12466A>C (p.Ser4156Arg) c.2519A>C c.12418A>C (p.Ser4140Arg) n.3661A>C c.12520A>C (p.Ser4174Arg) c.12517A>C (p.Ser4173Arg) c.12496A>C (p.Ser4166Arg) c.12490A>C (p.Ser4164Arg) c.12484A>C (p.Ser4162Arg) c.12460A>C (p.Ser4154Arg) c.12283A>C (p.Ser4095Arg) c.12427A>C (p.Ser4143Arg) c.12499A>C (p.Ser4167Arg) | COSMIC COSMIC |
1 | g.237784178A>G | CA345413388 | RYR2 | c.*3558A>G (n.*3558A>G) c.12454A>G (p.Ser4152Gly) c.12487A>G (p.Ser4163Gly) c.4643A>G c.12466A>G (p.Ser4156Gly) c.2519A>G c.12418A>G (p.Ser4140Gly) n.3661A>G c.12520A>G (p.Ser4174Gly) c.12517A>G (p.Ser4173Gly) c.12496A>G (p.Ser4166Gly) c.12490A>G (p.Ser4164Gly) c.12484A>G (p.Ser4162Gly) c.12460A>G (p.Ser4154Gly) c.12283A>G (p.Ser4095Gly) c.12427A>G (p.Ser4143Gly) c.12499A>G (p.Ser4167Gly) | |
1 | g.237784178A>T | CA345413390 | RYR2 | c.*3558A>T (n.*3558A>T) c.12454A>T (p.Ser4152Cys) c.12487A>T (p.Ser4163Cys) c.4643A>T c.12466A>T (p.Ser4156Cys) c.2519A>T c.12418A>T (p.Ser4140Cys) n.3661A>T c.12520A>T (p.Ser4174Cys) c.12517A>T (p.Ser4173Cys) c.12496A>T (p.Ser4166Cys) c.12490A>T (p.Ser4164Cys) c.12484A>T (p.Ser4162Cys) c.12460A>T (p.Ser4154Cys) c.12283A>T (p.Ser4095Cys) c.12427A>T (p.Ser4143Cys) c.12499A>T (p.Ser4167Cys) | |
1 | g.237784179G>A | CA345413393 | RYR2 | c.*3559G>A (n.*3559G>A) c.12455G>A (p.Ser4152Asn) c.12488G>A (p.Ser4163Asn) c.4644G>A c.12467G>A (p.Ser4156Asn) c.2520G>A c.12419G>A (p.Ser4140Asn) n.3662G>A c.12521G>A (p.Ser4174Asn) c.12518G>A (p.Ser4173Asn) c.12497G>A (p.Ser4166Asn) c.12491G>A (p.Ser4164Asn) c.12485G>A (p.Ser4162Asn) c.12461G>A (p.Ser4154Asn) c.12284G>A (p.Ser4095Asn) c.12428G>A (p.Ser4143Asn) c.12500G>A (p.Ser4167Asn) | |
1 | g.237784179G>C | CA345413396 | RYR2 | c.*3559G>C (n.*3559G>C) c.12455G>C (p.Ser4152Thr) c.12488G>C (p.Ser4163Thr) c.4644G>C c.12467G>C (p.Ser4156Thr) c.2520G>C c.12419G>C (p.Ser4140Thr) n.3662G>C c.12521G>C (p.Ser4174Thr) c.12518G>C (p.Ser4173Thr) c.12497G>C (p.Ser4166Thr) c.12491G>C (p.Ser4164Thr) c.12485G>C (p.Ser4162Thr) c.12461G>C (p.Ser4154Thr) c.12284G>C (p.Ser4095Thr) c.12428G>C (p.Ser4143Thr) c.12500G>C (p.Ser4167Thr) | |
1 | g.237784179G>T | CA345413397 | RYR2 | c.*3559G>T (n.*3559G>T) c.12455G>T (p.Ser4152Ile) c.12488G>T (p.Ser4163Ile) c.4644G>T c.12467G>T (p.Ser4156Ile) c.2520G>T c.12419G>T (p.Ser4140Ile) n.3662G>T c.12521G>T (p.Ser4174Ile) c.12518G>T (p.Ser4173Ile) c.12497G>T (p.Ser4166Ile) c.12491G>T (p.Ser4164Ile) c.12485G>T (p.Ser4162Ile) c.12461G>T (p.Ser4154Ile) c.12284G>T (p.Ser4095Ile) c.12428G>T (p.Ser4143Ile) c.12500G>T (p.Ser4167Ile) | |
1 | g.237784180C>A | CA16622167 | RYR2 | c.*3560C>A (n.*3560C>A) c.12456C>A (p.Ser4152Arg) c.12489C>A (p.Ser4163Arg) c.4645C>A c.12468C>A (p.Ser4156Arg) c.2521C>A c.12420C>A (p.Ser4140Arg) n.3663C>A c.12522C>A (p.Ser4174Arg) c.12519C>A (p.Ser4173Arg) c.12498C>A (p.Ser4166Arg) c.12492C>A (p.Ser4164Arg) c.12486C>A (p.Ser4162Arg) c.12462C>A (p.Ser4154Arg) c.12285C>A (p.Ser4095Arg) c.12429C>A (p.Ser4143Arg) c.12501C>A (p.Ser4167Arg) | gnomAD v4 |
1 | g.237784180C= | CA2487482416 | RYR2 | c.*3560C= (n.*3560C=) c.12456C= (p.Ser4152=) c.12489C= (p.Ser4163=) c.4645C= c.12468C= (p.Ser4156=) c.2521C= c.12420C= (p.Ser4140=) n.3663C= c.12522C= (p.Ser4174=) c.12519C= (p.Ser4173=) c.12498C= (p.Ser4166=) c.12492C= (p.Ser4164=) c.12486C= (p.Ser4162=) c.12462C= (p.Ser4154=) c.12285C= (p.Ser4095=) c.12429C= (p.Ser4143=) c.12501C= (p.Ser4167=) | |
1 | g.237784180C>G | CA345413401 | RYR2 | c.*3560C>G (n.*3560C>G) c.12456C>G (p.Ser4152Arg) c.12489C>G (p.Ser4163Arg) c.4645C>G c.12468C>G (p.Ser4156Arg) c.2521C>G c.12420C>G (p.Ser4140Arg) n.3663C>G c.12522C>G (p.Ser4174Arg) c.12519C>G (p.Ser4173Arg) c.12498C>G (p.Ser4166Arg) c.12492C>G (p.Ser4164Arg) c.12486C>G (p.Ser4162Arg) c.12462C>G (p.Ser4154Arg) c.12285C>G (p.Ser4095Arg) c.12429C>G (p.Ser4143Arg) c.12501C>G (p.Ser4167Arg) | |
1 | g.237784180C>T | CA424032223 | RYR2 | c.*3560C>T (n.*3560C>T) c.12456C>T (p.Ser4152=) c.12489C>T (p.Ser4163=) c.4645C>T c.12468C>T (p.Ser4156=) c.2521C>T c.12420C>T (p.Ser4140=) n.3663C>T c.12522C>T (p.Ser4174=) c.12519C>T (p.Ser4173=) c.12498C>T (p.Ser4166=) c.12492C>T (p.Ser4164=) c.12486C>T (p.Ser4162=) c.12462C>T (p.Ser4154=) c.12285C>T (p.Ser4095=) c.12429C>T (p.Ser4143=) c.12501C>T (p.Ser4167=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784181C>A | CA424032224 | RYR2 | c.*3561C>A (n.*3561C>A) c.12457C>A (p.Arg4153=) c.12490C>A (p.Arg4164=) c.4646C>A c.12469C>A (p.Arg4157=) c.2522C>A c.12421C>A (p.Arg4141=) n.3664C>A c.12523C>A (p.Arg4175=) c.12520C>A (p.Arg4174=) c.12499C>A (p.Arg4167=) c.12493C>A (p.Arg4165=) c.12487C>A (p.Arg4163=) c.12463C>A (p.Arg4155=) c.12286C>A (p.Arg4096=) c.12430C>A (p.Arg4144=) c.12502C>A (p.Arg4168=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784181C= | CA2487482417 | RYR2 | c.*3561C= (n.*3561C=) c.12457C= (p.Arg4153=) c.12490C= (p.Arg4164=) c.4646C= c.12469C= (p.Arg4157=) c.2522C= c.12421C= (p.Arg4141=) n.3664C= c.12523C= (p.Arg4175=) c.12520C= (p.Arg4174=) c.12499C= (p.Arg4167=) c.12493C= (p.Arg4165=) c.12487C= (p.Arg4163=) c.12463C= (p.Arg4155=) c.12286C= (p.Arg4096=) c.12430C= (p.Arg4144=) c.12502C= (p.Arg4168=) | |
1 | g.237784181C>G | CA345413402 | RYR2 | c.*3561C>G (n.*3561C>G) c.12457C>G (p.Arg4153Gly) c.12490C>G (p.Arg4164Gly) c.4646C>G c.12469C>G (p.Arg4157Gly) c.2522C>G c.12421C>G (p.Arg4141Gly) n.3664C>G c.12523C>G (p.Arg4175Gly) c.12520C>G (p.Arg4174Gly) c.12499C>G (p.Arg4167Gly) c.12493C>G (p.Arg4165Gly) c.12487C>G (p.Arg4163Gly) c.12463C>G (p.Arg4155Gly) c.12286C>G (p.Arg4096Gly) c.12430C>G (p.Arg4144Gly) c.12502C>G (p.Arg4168Gly) | |
1 | g.237784181C>T | CA066453 | RYR2 | c.*3561C>T (n.*3561C>T) c.12457C>T (p.Arg4153Ter) c.12490C>T (p.Arg4164Ter) c.4646C>T c.12469C>T (p.Arg4157Ter) c.2522C>T c.12421C>T (p.Arg4141Ter) n.3664C>T c.12523C>T (p.Arg4175Ter) c.12520C>T (p.Arg4174Ter) c.12499C>T (p.Arg4167Ter) c.12493C>T (p.Arg4165Ter) c.12487C>T (p.Arg4163Ter) c.12463C>T (p.Arg4155Ter) c.12286C>T (p.Arg4096Ter) c.12430C>T (p.Arg4144Ter) c.12502C>T (p.Arg4168Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784182G>A | CA007532 | RYR2 | c.*3562G>A (n.*3562G>A) c.12458G>A (p.Arg4153Gln) c.12491G>A (p.Arg4164Gln) c.4647G>A c.12470G>A (p.Arg4157Gln) c.2523G>A c.12422G>A (p.Arg4141Gln) n.3665G>A c.12524G>A (p.Arg4175Gln) c.12521G>A (p.Arg4174Gln) c.12500G>A (p.Arg4167Gln) c.12494G>A (p.Arg4165Gln) c.12488G>A (p.Arg4163Gln) c.12464G>A (p.Arg4155Gln) c.12287G>A (p.Arg4096Gln) c.12431G>A (p.Arg4144Gln) c.12503G>A (p.Arg4168Gln) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784182G>C | CA345413404 | RYR2 | c.*3562G>C (n.*3562G>C) c.12458G>C (p.Arg4153Pro) c.12491G>C (p.Arg4164Pro) c.4647G>C c.12470G>C (p.Arg4157Pro) c.2523G>C c.12422G>C (p.Arg4141Pro) n.3665G>C c.12524G>C (p.Arg4175Pro) c.12521G>C (p.Arg4174Pro) c.12500G>C (p.Arg4167Pro) c.12494G>C (p.Arg4165Pro) c.12488G>C (p.Arg4163Pro) c.12464G>C (p.Arg4155Pro) c.12287G>C (p.Arg4096Pro) c.12431G>C (p.Arg4144Pro) c.12503G>C (p.Arg4168Pro) | |
1 | g.237784182G= | CA2487482418 | RYR2 | c.*3562G= (n.*3562G=) c.12458G= (p.Arg4153=) c.12491G= (p.Arg4164=) c.4647G= c.12470G= (p.Arg4157=) c.2523G= c.12422G= (p.Arg4141=) n.3665G= c.12524G= (p.Arg4175=) c.12521G= (p.Arg4174=) c.12500G= (p.Arg4167=) c.12494G= (p.Arg4165=) c.12488G= (p.Arg4163=) c.12464G= (p.Arg4155=) c.12287G= (p.Arg4096=) c.12431G= (p.Arg4144=) c.12503G= (p.Arg4168=) | |
1 | g.237784182G>T | CA345413403 | RYR2 | c.*3562G>T (n.*3562G>T) c.12458G>T (p.Arg4153Leu) c.12491G>T (p.Arg4164Leu) c.4647G>T c.12470G>T (p.Arg4157Leu) c.2523G>T c.12422G>T (p.Arg4141Leu) n.3665G>T c.12524G>T (p.Arg4175Leu) c.12521G>T (p.Arg4174Leu) c.12500G>T (p.Arg4167Leu) c.12494G>T (p.Arg4165Leu) c.12488G>T (p.Arg4163Leu) c.12464G>T (p.Arg4155Leu) c.12287G>T (p.Arg4096Leu) c.12431G>T (p.Arg4144Leu) c.12503G>T (p.Arg4168Leu) | |
1 | g.237784183A= | CA2487482419 | RYR2 | c.*3563A= (n.*3563A=) c.12459A= (p.Arg4153=) c.12492A= (p.Arg4164=) c.4648A= c.12471A= (p.Arg4157=) c.2524A= c.12423A= (p.Arg4141=) n.3666A= c.12525A= (p.Arg4175=) c.12522A= (p.Arg4174=) c.12501A= (p.Arg4167=) c.12495A= (p.Arg4165=) c.12489A= (p.Arg4163=) c.12465A= (p.Arg4155=) c.12288A= (p.Arg4096=) c.12432A= (p.Arg4144=) c.12504A= (p.Arg4168=) | |
1 | g.237784183A>C | CA424032225 | RYR2 | c.*3563A>C (n.*3563A>C) c.12459A>C (p.Arg4153=) c.12492A>C (p.Arg4164=) c.4648A>C c.12471A>C (p.Arg4157=) c.2524A>C c.12423A>C (p.Arg4141=) n.3666A>C c.12525A>C (p.Arg4175=) c.12522A>C (p.Arg4174=) c.12501A>C (p.Arg4167=) c.12495A>C (p.Arg4165=) c.12489A>C (p.Arg4163=) c.12465A>C (p.Arg4155=) c.12288A>C (p.Arg4096=) c.12432A>C (p.Arg4144=) c.12504A>C (p.Arg4168=) | |
1 | g.237784183A>G | CA085186 | RYR2 | c.*3563A>G (n.*3563A>G) c.12459A>G (p.Arg4153=) c.12492A>G (p.Arg4164=) c.4648A>G c.12471A>G (p.Arg4157=) c.2524A>G c.12423A>G (p.Arg4141=) n.3666A>G c.12525A>G (p.Arg4175=) c.12522A>G (p.Arg4174=) c.12501A>G (p.Arg4167=) c.12495A>G (p.Arg4165=) c.12489A>G (p.Arg4163=) c.12465A>G (p.Arg4155=) c.12288A>G (p.Arg4096=) c.12432A>G (p.Arg4144=) c.12504A>G (p.Arg4168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784183A>T | CA424032229 | RYR2 | c.*3563A>T (n.*3563A>T) c.12459A>T (p.Arg4153=) c.12492A>T (p.Arg4164=) c.4648A>T c.12471A>T (p.Arg4157=) c.2524A>T c.12423A>T (p.Arg4141=) n.3666A>T c.12525A>T (p.Arg4175=) c.12522A>T (p.Arg4174=) c.12501A>T (p.Arg4167=) c.12495A>T (p.Arg4165=) c.12489A>T (p.Arg4163=) c.12465A>T (p.Arg4155=) c.12288A>T (p.Arg4096=) c.12432A>T (p.Arg4144=) c.12504A>T (p.Arg4168=) | |
1 | g.237784184A= | CA2487482420 | RYR2 | c.*3564A= (n.*3564A=) c.12460A= (p.Thr4154=) c.12493A= (p.Thr4165=) c.4649A= c.12472A= (p.Thr4158=) c.2525A= c.12424A= (p.Thr4142=) n.3667A= c.12526A= (p.Thr4176=) c.12523A= (p.Thr4175=) c.12502A= (p.Thr4168=) c.12496A= (p.Thr4166=) c.12490A= (p.Thr4164=) c.12466A= (p.Thr4156=) c.12289A= (p.Thr4097=) c.12433A= (p.Thr4145=) c.12505A= (p.Thr4169=) | |
1 | g.237784184A>C | CA345413410 | RYR2 | c.*3564A>C (n.*3564A>C) c.12460A>C (p.Thr4154Pro) c.12493A>C (p.Thr4165Pro) c.4649A>C c.12472A>C (p.Thr4158Pro) c.2525A>C c.12424A>C (p.Thr4142Pro) n.3667A>C c.12526A>C (p.Thr4176Pro) c.12523A>C (p.Thr4175Pro) c.12502A>C (p.Thr4168Pro) c.12496A>C (p.Thr4166Pro) c.12490A>C (p.Thr4164Pro) c.12466A>C (p.Thr4156Pro) c.12289A>C (p.Thr4097Pro) c.12433A>C (p.Thr4145Pro) c.12505A>C (p.Thr4169Pro) | dbSNP |
1 | g.237784184A>G | CA345413409 | RYR2 | c.*3564A>G (n.*3564A>G) c.12460A>G (p.Thr4154Ala) c.12493A>G (p.Thr4165Ala) c.4649A>G c.12472A>G (p.Thr4158Ala) c.2525A>G c.12424A>G (p.Thr4142Ala) n.3667A>G c.12526A>G (p.Thr4176Ala) c.12523A>G (p.Thr4175Ala) c.12502A>G (p.Thr4168Ala) c.12496A>G (p.Thr4166Ala) c.12490A>G (p.Thr4164Ala) c.12466A>G (p.Thr4156Ala) c.12289A>G (p.Thr4097Ala) c.12433A>G (p.Thr4145Ala) c.12505A>G (p.Thr4169Ala) | dbSNP gnomAD v4 |
1 | g.237784184A>T | CA345413411 | RYR2 | c.*3564A>T (n.*3564A>T) c.12460A>T (p.Thr4154Ser) c.12493A>T (p.Thr4165Ser) c.4649A>T c.12472A>T (p.Thr4158Ser) c.2525A>T c.12424A>T (p.Thr4142Ser) n.3667A>T c.12526A>T (p.Thr4176Ser) c.12523A>T (p.Thr4175Ser) c.12502A>T (p.Thr4168Ser) c.12496A>T (p.Thr4166Ser) c.12490A>T (p.Thr4164Ser) c.12466A>T (p.Thr4156Ser) c.12289A>T (p.Thr4097Ser) c.12433A>T (p.Thr4145Ser) c.12505A>T (p.Thr4169Ser) | dbSNP |
1 | g.237784185C>A | CA345413412 | RYR2 | c.*3565C>A (n.*3565C>A) c.12461C>A (p.Thr4154Asn) c.12494C>A (p.Thr4165Asn) c.4650C>A c.12473C>A (p.Thr4158Asn) c.2526C>A c.12425C>A (p.Thr4142Asn) n.3668C>A c.12527C>A (p.Thr4176Asn) c.12524C>A (p.Thr4175Asn) c.12503C>A (p.Thr4168Asn) c.12497C>A (p.Thr4166Asn) c.12491C>A (p.Thr4164Asn) c.12467C>A (p.Thr4156Asn) c.12290C>A (p.Thr4097Asn) c.12434C>A (p.Thr4145Asn) c.12506C>A (p.Thr4169Asn) | |
1 | g.237784185C>G | CA345413414 | RYR2 | c.*3565C>G (n.*3565C>G) c.12461C>G (p.Thr4154Ser) c.12494C>G (p.Thr4165Ser) c.4650C>G c.12473C>G (p.Thr4158Ser) c.2526C>G c.12425C>G (p.Thr4142Ser) n.3668C>G c.12527C>G (p.Thr4176Ser) c.12524C>G (p.Thr4175Ser) c.12503C>G (p.Thr4168Ser) c.12497C>G (p.Thr4166Ser) c.12491C>G (p.Thr4164Ser) c.12467C>G (p.Thr4156Ser) c.12290C>G (p.Thr4097Ser) c.12434C>G (p.Thr4145Ser) c.12506C>G (p.Thr4169Ser) | |
1 | g.237784185C>T | CA345413413 | RYR2 | c.*3565C>T (n.*3565C>T) c.12461C>T (p.Thr4154Ile) c.12494C>T (p.Thr4165Ile) c.4650C>T c.12473C>T (p.Thr4158Ile) c.2526C>T c.12425C>T (p.Thr4142Ile) n.3668C>T c.12527C>T (p.Thr4176Ile) c.12524C>T (p.Thr4175Ile) c.12503C>T (p.Thr4168Ile) c.12497C>T (p.Thr4166Ile) c.12491C>T (p.Thr4164Ile) c.12467C>T (p.Thr4156Ile) c.12290C>T (p.Thr4097Ile) c.12434C>T (p.Thr4145Ile) c.12506C>T (p.Thr4169Ile) | |
1 | g.237784186C>A | CA424032233 | RYR2 | c.*3566C>A (n.*3566C>A) c.12462C>A (p.Thr4154=) c.12495C>A (p.Thr4165=) c.4651C>A c.12474C>A (p.Thr4158=) c.2527C>A c.12426C>A (p.Thr4142=) n.3669C>A c.12528C>A (p.Thr4176=) c.12525C>A (p.Thr4175=) c.12504C>A (p.Thr4168=) c.12498C>A (p.Thr4166=) c.12492C>A (p.Thr4164=) c.12468C>A (p.Thr4156=) c.12291C>A (p.Thr4097=) c.12435C>A (p.Thr4145=) c.12507C>A (p.Thr4169=) | |
1 | g.237784186C= | CA2487482421 | RYR2 | c.*3566C= (n.*3566C=) c.12462C= (p.Thr4154=) c.12495C= (p.Thr4165=) c.4651C= c.12474C= (p.Thr4158=) c.2527C= c.12426C= (p.Thr4142=) n.3669C= c.12528C= (p.Thr4176=) c.12525C= (p.Thr4175=) c.12504C= (p.Thr4168=) c.12498C= (p.Thr4166=) c.12492C= (p.Thr4164=) c.12468C= (p.Thr4156=) c.12291C= (p.Thr4097=) c.12435C= (p.Thr4145=) c.12507C= (p.Thr4169=) | |
1 | g.237784186C>G | CA085187 | RYR2 | c.*3566C>G (n.*3566C>G) c.12462C>G (p.Thr4154=) c.12495C>G (p.Thr4165=) c.4651C>G c.12474C>G (p.Thr4158=) c.2527C>G c.12426C>G (p.Thr4142=) n.3669C>G c.12528C>G (p.Thr4176=) c.12525C>G (p.Thr4175=) c.12504C>G (p.Thr4168=) c.12498C>G (p.Thr4166=) c.12492C>G (p.Thr4164=) c.12468C>G (p.Thr4156=) c.12291C>G (p.Thr4097=) c.12435C>G (p.Thr4145=) c.12507C>G (p.Thr4169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784186C>T | CA424032231 | RYR2 | c.*3566C>T (n.*3566C>T) c.12462C>T (p.Thr4154=) c.12495C>T (p.Thr4165=) c.4651C>T c.12474C>T (p.Thr4158=) c.2527C>T c.12426C>T (p.Thr4142=) n.3669C>T c.12528C>T (p.Thr4176=) c.12525C>T (p.Thr4175=) c.12504C>T (p.Thr4168=) c.12498C>T (p.Thr4166=) c.12492C>T (p.Thr4164=) c.12468C>T (p.Thr4156=) c.12291C>T (p.Thr4097=) c.12435C>T (p.Thr4145=) c.12507C>T (p.Thr4169=) | gnomAD v4 |
1 | g.237784187C>A | CA345413416 | RYR2 | c.*3567C>A (n.*3567C>A) c.12463C>A (p.Gln4155Lys) c.12496C>A (p.Gln4166Lys) c.4652C>A c.12475C>A (p.Gln4159Lys) c.2528C>A c.12427C>A (p.Gln4143Lys) n.3670C>A c.12529C>A (p.Gln4177Lys) c.12526C>A (p.Gln4176Lys) c.12505C>A (p.Gln4169Lys) c.12499C>A (p.Gln4167Lys) c.12493C>A (p.Gln4165Lys) c.12469C>A (p.Gln4157Lys) c.12292C>A (p.Gln4098Lys) c.12436C>A (p.Gln4146Lys) c.12508C>A (p.Gln4170Lys) | ClinVar |
1 | g.237784187C>G | CA345413415 | RYR2 | c.*3567C>G (n.*3567C>G) c.12463C>G (p.Gln4155Glu) c.12496C>G (p.Gln4166Glu) c.4652C>G c.12475C>G (p.Gln4159Glu) c.2528C>G c.12427C>G (p.Gln4143Glu) n.3670C>G c.12529C>G (p.Gln4177Glu) c.12526C>G (p.Gln4176Glu) c.12505C>G (p.Gln4169Glu) c.12499C>G (p.Gln4167Glu) c.12493C>G (p.Gln4165Glu) c.12469C>G (p.Gln4157Glu) c.12292C>G (p.Gln4098Glu) c.12436C>G (p.Gln4146Glu) c.12508C>G (p.Gln4170Glu) | |
1 | g.237784187C>T | CA345413417 | RYR2 | c.*3567C>T (n.*3567C>T) c.12463C>T (p.Gln4155Ter) c.12496C>T (p.Gln4166Ter) c.4652C>T c.12475C>T (p.Gln4159Ter) c.2528C>T c.12427C>T (p.Gln4143Ter) n.3670C>T c.12529C>T (p.Gln4177Ter) c.12526C>T (p.Gln4176Ter) c.12505C>T (p.Gln4169Ter) c.12499C>T (p.Gln4167Ter) c.12493C>T (p.Gln4165Ter) c.12469C>T (p.Gln4157Ter) c.12292C>T (p.Gln4098Ter) c.12436C>T (p.Gln4146Ter) c.12508C>T (p.Gln4170Ter) | |
1 | g.237784188A= | CA2487482422 | RYR2 | c.*3568A= (n.*3568A=) c.12464A= (p.Gln4155=) c.12497A= (p.Gln4166=) c.4653A= c.12476A= (p.Gln4159=) c.2529A= c.12428A= (p.Gln4143=) n.3671A= c.12530A= (p.Gln4177=) c.12527A= (p.Gln4176=) c.12506A= (p.Gln4169=) c.12500A= (p.Gln4167=) c.12494A= (p.Gln4165=) c.12470A= (p.Gln4157=) c.12293A= (p.Gln4098=) c.12437A= (p.Gln4146=) c.12509A= (p.Gln4170=) | |
1 | g.237784188A>C | CA345413418 | RYR2 | c.*3568A>C (n.*3568A>C) c.12464A>C (p.Gln4155Pro) c.12497A>C (p.Gln4166Pro) c.4653A>C c.12476A>C (p.Gln4159Pro) c.2529A>C c.12428A>C (p.Gln4143Pro) n.3671A>C c.12530A>C (p.Gln4177Pro) c.12527A>C (p.Gln4176Pro) c.12506A>C (p.Gln4169Pro) c.12500A>C (p.Gln4167Pro) c.12494A>C (p.Gln4165Pro) c.12470A>C (p.Gln4157Pro) c.12293A>C (p.Gln4098Pro) c.12437A>C (p.Gln4146Pro) c.12509A>C (p.Gln4170Pro) | dbSNP |
1 | g.237784188A>G | CA345413420 | RYR2 | c.*3568A>G (n.*3568A>G) c.12464A>G (p.Gln4155Arg) c.12497A>G (p.Gln4166Arg) c.4653A>G c.12476A>G (p.Gln4159Arg) c.2529A>G c.12428A>G (p.Gln4143Arg) n.3671A>G c.12530A>G (p.Gln4177Arg) c.12527A>G (p.Gln4176Arg) c.12506A>G (p.Gln4169Arg) c.12500A>G (p.Gln4167Arg) c.12494A>G (p.Gln4165Arg) c.12470A>G (p.Gln4157Arg) c.12293A>G (p.Gln4098Arg) c.12437A>G (p.Gln4146Arg) c.12509A>G (p.Gln4170Arg) | |
1 | g.237784188A>T | CA345413419 | RYR2 | c.*3568A>T (n.*3568A>T) c.12464A>T (p.Gln4155Leu) c.12497A>T (p.Gln4166Leu) c.4653A>T c.12476A>T (p.Gln4159Leu) c.2529A>T c.12428A>T (p.Gln4143Leu) n.3671A>T c.12530A>T (p.Gln4177Leu) c.12527A>T (p.Gln4176Leu) c.12506A>T (p.Gln4169Leu) c.12500A>T (p.Gln4167Leu) c.12494A>T (p.Gln4165Leu) c.12470A>T (p.Gln4157Leu) c.12293A>T (p.Gln4098Leu) c.12437A>T (p.Gln4146Leu) c.12509A>T (p.Gln4170Leu) | |
1 | g.237784189G>A | CA424032234 | RYR2 | c.*3569G>A (n.*3569G>A) c.12465G>A (p.Gln4155=) c.12498G>A (p.Gln4166=) c.4654G>A c.12477G>A (p.Gln4159=) c.2530G>A c.12429G>A (p.Gln4143=) n.3672G>A c.12531G>A (p.Gln4177=) c.12528G>A (p.Gln4176=) c.12507G>A (p.Gln4169=) c.12501G>A (p.Gln4167=) c.12495G>A (p.Gln4165=) c.12471G>A (p.Gln4157=) c.12294G>A (p.Gln4098=) c.12438G>A (p.Gln4146=) c.12510G>A (p.Gln4170=) | |
1 | g.237784189G>C | CA345413421 | RYR2 | c.*3569G>C (n.*3569G>C) c.12465G>C (p.Gln4155His) c.12498G>C (p.Gln4166His) c.4654G>C c.12477G>C (p.Gln4159His) c.2530G>C c.12429G>C (p.Gln4143His) n.3672G>C c.12531G>C (p.Gln4177His) c.12528G>C (p.Gln4176His) c.12507G>C (p.Gln4169His) c.12501G>C (p.Gln4167His) c.12495G>C (p.Gln4165His) c.12471G>C (p.Gln4157His) c.12294G>C (p.Gln4098His) c.12438G>C (p.Gln4146His) c.12510G>C (p.Gln4170His) | |
1 | g.237784189G= | CA2487482423 | RYR2 | c.*3569G= (n.*3569G=) c.12465G= (p.Gln4155=) c.12498G= (p.Gln4166=) c.4654G= c.12477G= (p.Gln4159=) c.2530G= c.12429G= (p.Gln4143=) n.3672G= c.12531G= (p.Gln4177=) c.12528G= (p.Gln4176=) c.12507G= (p.Gln4169=) c.12501G= (p.Gln4167=) c.12495G= (p.Gln4165=) c.12471G= (p.Gln4157=) c.12294G= (p.Gln4098=) c.12438G= (p.Gln4146=) c.12510G= (p.Gln4170=) | |
1 | g.237784189G>T | CA345413422 | RYR2 | c.*3569G>T (n.*3569G>T) c.12465G>T (p.Gln4155His) c.12498G>T (p.Gln4166His) c.4654G>T c.12477G>T (p.Gln4159His) c.2530G>T c.12429G>T (p.Gln4143His) n.3672G>T c.12531G>T (p.Gln4177His) c.12528G>T (p.Gln4176His) c.12507G>T (p.Gln4169His) c.12501G>T (p.Gln4167His) c.12495G>T (p.Gln4165His) c.12471G>T (p.Gln4157His) c.12294G>T (p.Gln4098His) c.12438G>T (p.Gln4146His) c.12510G>T (p.Gln4170His) | ClinVar dbSNP |
1 | g.237784190T>A | CA345413423 | RYR2 | c.*3570T>A (n.*3570T>A) c.12466T>A (p.Trp4156Arg) c.12499T>A (p.Trp4167Arg) c.4655T>A c.12478T>A (p.Trp4160Arg) c.2531T>A c.12430T>A (p.Trp4144Arg) n.3673T>A c.12532T>A (p.Trp4178Arg) c.12529T>A (p.Trp4177Arg) c.12508T>A (p.Trp4170Arg) c.12502T>A (p.Trp4168Arg) c.12496T>A (p.Trp4166Arg) c.12472T>A (p.Trp4158Arg) c.12295T>A (p.Trp4099Arg) c.12439T>A (p.Trp4147Arg) c.12511T>A (p.Trp4171Arg) | |
1 | g.237784190T>C | CA345413424 | RYR2 | c.*3570T>C (n.*3570T>C) c.12466T>C (p.Trp4156Arg) c.12499T>C (p.Trp4167Arg) c.4655T>C c.12478T>C (p.Trp4160Arg) c.2531T>C c.12430T>C (p.Trp4144Arg) n.3673T>C c.12532T>C (p.Trp4178Arg) c.12529T>C (p.Trp4177Arg) c.12508T>C (p.Trp4170Arg) c.12502T>C (p.Trp4168Arg) c.12496T>C (p.Trp4166Arg) c.12472T>C (p.Trp4158Arg) c.12295T>C (p.Trp4099Arg) c.12439T>C (p.Trp4147Arg) c.12511T>C (p.Trp4171Arg) | |
1 | g.237784190T>G | CA345413425 | RYR2 | c.*3570T>G (n.*3570T>G) c.12466T>G (p.Trp4156Gly) c.12499T>G (p.Trp4167Gly) c.4655T>G c.12478T>G (p.Trp4160Gly) c.2531T>G c.12430T>G (p.Trp4144Gly) n.3673T>G c.12532T>G (p.Trp4178Gly) c.12529T>G (p.Trp4177Gly) c.12508T>G (p.Trp4170Gly) c.12502T>G (p.Trp4168Gly) c.12496T>G (p.Trp4166Gly) c.12472T>G (p.Trp4158Gly) c.12295T>G (p.Trp4099Gly) c.12439T>G (p.Trp4147Gly) c.12511T>G (p.Trp4171Gly) | |
1 | g.237784191G>A | CA345413426 | RYR2 | c.*3571G>A (n.*3571G>A) c.12467G>A (p.Trp4156Ter) c.12500G>A (p.Trp4167Ter) c.4656G>A c.12479G>A (p.Trp4160Ter) c.2532G>A c.12431G>A (p.Trp4144Ter) n.3674G>A c.12533G>A (p.Trp4178Ter) c.12530G>A (p.Trp4177Ter) c.12509G>A (p.Trp4170Ter) c.12503G>A (p.Trp4168Ter) c.12497G>A (p.Trp4166Ter) c.12473G>A (p.Trp4158Ter) c.12296G>A (p.Trp4099Ter) c.12440G>A (p.Trp4147Ter) c.12512G>A (p.Trp4171Ter) | |
1 | g.237784191G>C | CA345413427 | RYR2 | c.*3571G>C (n.*3571G>C) c.12467G>C (p.Trp4156Ser) c.12500G>C (p.Trp4167Ser) c.4656G>C c.12479G>C (p.Trp4160Ser) c.2532G>C c.12431G>C (p.Trp4144Ser) n.3674G>C c.12533G>C (p.Trp4178Ser) c.12530G>C (p.Trp4177Ser) c.12509G>C (p.Trp4170Ser) c.12503G>C (p.Trp4168Ser) c.12497G>C (p.Trp4166Ser) c.12473G>C (p.Trp4158Ser) c.12296G>C (p.Trp4099Ser) c.12440G>C (p.Trp4147Ser) c.12512G>C (p.Trp4171Ser) | |
1 | g.237784191G>T | CA345413428 | RYR2 | c.*3571G>T (n.*3571G>T) c.12467G>T (p.Trp4156Leu) c.12500G>T (p.Trp4167Leu) c.4656G>T c.12479G>T (p.Trp4160Leu) c.2532G>T c.12431G>T (p.Trp4144Leu) n.3674G>T c.12533G>T (p.Trp4178Leu) c.12530G>T (p.Trp4177Leu) c.12509G>T (p.Trp4170Leu) c.12503G>T (p.Trp4168Leu) c.12497G>T (p.Trp4166Leu) c.12473G>T (p.Trp4158Leu) c.12296G>T (p.Trp4099Leu) c.12440G>T (p.Trp4147Leu) c.12512G>T (p.Trp4171Leu) | |
1 | g.237784192G>A | CA345413429 | RYR2 | c.*3572G>A (n.*3572G>A) c.12468G>A (p.Trp4156Ter) c.12501G>A (p.Trp4167Ter) c.4657G>A c.12480G>A (p.Trp4160Ter) c.2533G>A c.12432G>A (p.Trp4144Ter) n.3675G>A c.12534G>A (p.Trp4178Ter) c.12531G>A (p.Trp4177Ter) c.12510G>A (p.Trp4170Ter) c.12504G>A (p.Trp4168Ter) c.12498G>A (p.Trp4166Ter) c.12474G>A (p.Trp4158Ter) c.12297G>A (p.Trp4099Ter) c.12441G>A (p.Trp4147Ter) c.12513G>A (p.Trp4171Ter) | gnomAD v4 |
1 | g.237784192G>C | CA345413430 | RYR2 | c.*3572G>C (n.*3572G>C) c.12468G>C (p.Trp4156Cys) c.12501G>C (p.Trp4167Cys) c.4657G>C c.12480G>C (p.Trp4160Cys) c.2533G>C c.12432G>C (p.Trp4144Cys) n.3675G>C c.12534G>C (p.Trp4178Cys) c.12531G>C (p.Trp4177Cys) c.12510G>C (p.Trp4170Cys) c.12504G>C (p.Trp4168Cys) c.12498G>C (p.Trp4166Cys) c.12474G>C (p.Trp4158Cys) c.12297G>C (p.Trp4099Cys) c.12441G>C (p.Trp4147Cys) c.12513G>C (p.Trp4171Cys) | |
1 | g.237784192G>T | CA345413431 | RYR2 | c.*3572G>T (n.*3572G>T) c.12468G>T (p.Trp4156Cys) c.12501G>T (p.Trp4167Cys) c.4657G>T c.12480G>T (p.Trp4160Cys) c.2533G>T c.12432G>T (p.Trp4144Cys) n.3675G>T c.12534G>T (p.Trp4178Cys) c.12531G>T (p.Trp4177Cys) c.12510G>T (p.Trp4170Cys) c.12504G>T (p.Trp4168Cys) c.12498G>T (p.Trp4166Cys) c.12474G>T (p.Trp4158Cys) c.12297G>T (p.Trp4099Cys) c.12441G>T (p.Trp4147Cys) c.12513G>T (p.Trp4171Cys) | COSMIC COSMIC |
1 | g.237784193G>A | CA345413434 | RYR2 | c.*3573G>A (n.*3573G>A) c.12469G>A (p.Glu4157Lys) c.12502G>A (p.Glu4168Lys) c.4658G>A c.12481G>A (p.Glu4161Lys) c.2534G>A c.12433G>A (p.Glu4145Lys) n.3676G>A c.12535G>A (p.Glu4179Lys) c.12532G>A (p.Glu4178Lys) c.12511G>A (p.Glu4171Lys) c.12505G>A (p.Glu4169Lys) c.12499G>A (p.Glu4167Lys) c.12475G>A (p.Glu4159Lys) c.12298G>A (p.Glu4100Lys) c.12442G>A (p.Glu4148Lys) c.12514G>A (p.Glu4172Lys) | ClinVar |
1 | g.237784193G>C | CA345413432 | RYR2 | c.*3573G>C (n.*3573G>C) c.12469G>C (p.Glu4157Gln) c.12502G>C (p.Glu4168Gln) c.4658G>C c.12481G>C (p.Glu4161Gln) c.2534G>C c.12433G>C (p.Glu4145Gln) n.3676G>C c.12535G>C (p.Glu4179Gln) c.12532G>C (p.Glu4178Gln) c.12511G>C (p.Glu4171Gln) c.12505G>C (p.Glu4169Gln) c.12499G>C (p.Glu4167Gln) c.12475G>C (p.Glu4159Gln) c.12298G>C (p.Glu4100Gln) c.12442G>C (p.Glu4148Gln) c.12514G>C (p.Glu4172Gln) | dbSNP |
1 | g.237784193G= | CA2487482424 | RYR2 | c.*3573G= (n.*3573G=) c.12469G= (p.Glu4157=) c.12502G= (p.Glu4168=) c.4658G= c.12481G= (p.Glu4161=) c.2534G= c.12433G= (p.Glu4145=) n.3676G= c.12535G= (p.Glu4179=) c.12532G= (p.Glu4178=) c.12511G= (p.Glu4171=) c.12505G= (p.Glu4169=) c.12499G= (p.Glu4167=) c.12475G= (p.Glu4159=) c.12298G= (p.Glu4100=) c.12442G= (p.Glu4148=) c.12514G= (p.Glu4172=) | |
1 | g.237784193G>T | CA345413433 | RYR2 | c.*3573G>T (n.*3573G>T) c.12469G>T (p.Glu4157Ter) c.12502G>T (p.Glu4168Ter) c.4658G>T c.12481G>T (p.Glu4161Ter) c.2534G>T c.12433G>T (p.Glu4145Ter) n.3676G>T c.12535G>T (p.Glu4179Ter) c.12532G>T (p.Glu4178Ter) c.12511G>T (p.Glu4171Ter) c.12505G>T (p.Glu4169Ter) c.12499G>T (p.Glu4167Ter) c.12475G>T (p.Glu4159Ter) c.12298G>T (p.Glu4100Ter) c.12442G>T (p.Glu4148Ter) c.12514G>T (p.Glu4172Ter) | gnomAD v4 |
1 | g.237784194A>C | CA345413435 | RYR2 | c.*3574A>C (n.*3574A>C) c.12470A>C (p.Glu4157Ala) c.12503A>C (p.Glu4168Ala) c.4659A>C c.12482A>C (p.Glu4161Ala) c.2535A>C c.12434A>C (p.Glu4145Ala) n.3677A>C c.12536A>C (p.Glu4179Ala) c.12533A>C (p.Glu4178Ala) c.12512A>C (p.Glu4171Ala) c.12506A>C (p.Glu4169Ala) c.12500A>C (p.Glu4167Ala) c.12476A>C (p.Glu4159Ala) c.12299A>C (p.Glu4100Ala) c.12443A>C (p.Glu4148Ala) c.12515A>C (p.Glu4172Ala) | |
1 | g.237784194A>G | CA345413436 | RYR2 | c.*3574A>G (n.*3574A>G) c.12470A>G (p.Glu4157Gly) c.12503A>G (p.Glu4168Gly) c.4659A>G c.12482A>G (p.Glu4161Gly) c.2535A>G c.12434A>G (p.Glu4145Gly) n.3677A>G c.12536A>G (p.Glu4179Gly) c.12533A>G (p.Glu4178Gly) c.12512A>G (p.Glu4171Gly) c.12506A>G (p.Glu4169Gly) c.12500A>G (p.Glu4167Gly) c.12476A>G (p.Glu4159Gly) c.12299A>G (p.Glu4100Gly) c.12443A>G (p.Glu4148Gly) c.12515A>G (p.Glu4172Gly) | gnomAD v4 COSMIC |
1 | g.237784194A>T | CA345413437 | RYR2 | c.*3574A>T (n.*3574A>T) c.12470A>T (p.Glu4157Val) c.12503A>T (p.Glu4168Val) c.4659A>T c.12482A>T (p.Glu4161Val) c.2535A>T c.12434A>T (p.Glu4145Val) n.3677A>T c.12536A>T (p.Glu4179Val) c.12533A>T (p.Glu4178Val) c.12512A>T (p.Glu4171Val) c.12506A>T (p.Glu4169Val) c.12500A>T (p.Glu4167Val) c.12476A>T (p.Glu4159Val) c.12299A>T (p.Glu4100Val) c.12443A>T (p.Glu4148Val) c.12515A>T (p.Glu4172Val) | |
1 | g.237784195G>A | CA424032248 | RYR2 | c.*3575G>A (n.*3575G>A) c.12471G>A (p.Glu4157=) c.12504G>A (p.Glu4168=) c.4660G>A c.12483G>A (p.Glu4161=) c.2536G>A c.12435G>A (p.Glu4145=) n.3678G>A c.12537G>A (p.Glu4179=) c.12534G>A (p.Glu4178=) c.12513G>A (p.Glu4171=) c.12507G>A (p.Glu4169=) c.12501G>A (p.Glu4167=) c.12477G>A (p.Glu4159=) c.12300G>A (p.Glu4100=) c.12444G>A (p.Glu4148=) c.12516G>A (p.Glu4172=) | dbSNP gnomAD v4 |
1 | g.237784195G>C | CA345413438 | RYR2 | c.*3575G>C (n.*3575G>C) c.12471G>C (p.Glu4157Asp) c.12504G>C (p.Glu4168Asp) c.4660G>C c.12483G>C (p.Glu4161Asp) c.2536G>C c.12435G>C (p.Glu4145Asp) n.3678G>C c.12537G>C (p.Glu4179Asp) c.12534G>C (p.Glu4178Asp) c.12513G>C (p.Glu4171Asp) c.12507G>C (p.Glu4169Asp) c.12501G>C (p.Glu4167Asp) c.12477G>C (p.Glu4159Asp) c.12300G>C (p.Glu4100Asp) c.12444G>C (p.Glu4148Asp) c.12516G>C (p.Glu4172Asp) | |
1 | g.237784195G>T | CA345413439 | RYR2 | c.*3575G>T (n.*3575G>T) c.12471G>T (p.Glu4157Asp) c.12504G>T (p.Glu4168Asp) c.4660G>T c.12483G>T (p.Glu4161Asp) c.2536G>T c.12435G>T (p.Glu4145Asp) n.3678G>T c.12537G>T (p.Glu4179Asp) c.12534G>T (p.Glu4178Asp) c.12513G>T (p.Glu4171Asp) c.12507G>T (p.Glu4169Asp) c.12501G>T (p.Glu4167Asp) c.12477G>T (p.Glu4159Asp) c.12300G>T (p.Glu4100Asp) c.12444G>T (p.Glu4148Asp) c.12516G>T (p.Glu4172Asp) | |
1 | g.237784196A>C | CA345413440 | RYR2 | c.*3576A>C (n.*3576A>C) c.12472A>C (p.Lys4158Gln) c.12505A>C (p.Lys4169Gln) c.4661A>C c.12484A>C (p.Lys4162Gln) c.2537A>C c.12436A>C (p.Lys4146Gln) n.3679A>C c.12538A>C (p.Lys4180Gln) c.12535A>C (p.Lys4179Gln) c.12514A>C (p.Lys4172Gln) c.12508A>C (p.Lys4170Gln) c.12502A>C (p.Lys4168Gln) c.12478A>C (p.Lys4160Gln) c.12301A>C (p.Lys4101Gln) c.12445A>C (p.Lys4149Gln) c.12517A>C (p.Lys4173Gln) | |
1 | g.237784196A>G | CA345413441 | RYR2 | c.*3576A>G (n.*3576A>G) c.12472A>G (p.Lys4158Glu) c.12505A>G (p.Lys4169Glu) c.4661A>G c.12484A>G (p.Lys4162Glu) c.2537A>G c.12436A>G (p.Lys4146Glu) n.3679A>G c.12538A>G (p.Lys4180Glu) c.12535A>G (p.Lys4179Glu) c.12514A>G (p.Lys4172Glu) c.12508A>G (p.Lys4170Glu) c.12502A>G (p.Lys4168Glu) c.12478A>G (p.Lys4160Glu) c.12301A>G (p.Lys4101Glu) c.12445A>G (p.Lys4149Glu) c.12517A>G (p.Lys4173Glu) | |
1 | g.237784196A>T | CA345413442 | RYR2 | c.*3576A>T (n.*3576A>T) c.12472A>T (p.Lys4158Ter) c.12505A>T (p.Lys4169Ter) c.4661A>T c.12484A>T (p.Lys4162Ter) c.2537A>T c.12436A>T (p.Lys4146Ter) n.3679A>T c.12538A>T (p.Lys4180Ter) c.12535A>T (p.Lys4179Ter) c.12514A>T (p.Lys4172Ter) c.12508A>T (p.Lys4170Ter) c.12502A>T (p.Lys4168Ter) c.12478A>T (p.Lys4160Ter) c.12301A>T (p.Lys4101Ter) c.12445A>T (p.Lys4149Ter) c.12517A>T (p.Lys4173Ter) | |
1 | g.237784197A>C | CA345413444 | RYR2 | c.*3577A>C (n.*3577A>C) c.12473A>C (p.Lys4158Thr) c.12506A>C (p.Lys4169Thr) c.4662A>C c.12485A>C (p.Lys4162Thr) c.2538A>C c.12437A>C (p.Lys4146Thr) n.3680A>C c.12539A>C (p.Lys4180Thr) c.12536A>C (p.Lys4179Thr) c.12515A>C (p.Lys4172Thr) c.12509A>C (p.Lys4170Thr) c.12503A>C (p.Lys4168Thr) c.12479A>C (p.Lys4160Thr) c.12302A>C (p.Lys4101Thr) c.12446A>C (p.Lys4149Thr) c.12518A>C (p.Lys4173Thr) | |
1 | g.237784197A>G | CA345413445 | RYR2 | c.*3577A>G (n.*3577A>G) c.12473A>G (p.Lys4158Arg) c.12506A>G (p.Lys4169Arg) c.4662A>G c.12485A>G (p.Lys4162Arg) c.2538A>G c.12437A>G (p.Lys4146Arg) n.3680A>G c.12539A>G (p.Lys4180Arg) c.12536A>G (p.Lys4179Arg) c.12515A>G (p.Lys4172Arg) c.12509A>G (p.Lys4170Arg) c.12503A>G (p.Lys4168Arg) c.12479A>G (p.Lys4160Arg) c.12302A>G (p.Lys4101Arg) c.12446A>G (p.Lys4149Arg) c.12518A>G (p.Lys4173Arg) | |
1 | g.237784197A>T | CA345413446 | RYR2 | c.*3577A>T (n.*3577A>T) c.12473A>T (p.Lys4158Met) c.12506A>T (p.Lys4169Met) c.4662A>T c.12485A>T (p.Lys4162Met) c.2538A>T c.12437A>T (p.Lys4146Met) n.3680A>T c.12539A>T (p.Lys4180Met) c.12536A>T (p.Lys4179Met) c.12515A>T (p.Lys4172Met) c.12509A>T (p.Lys4170Met) c.12503A>T (p.Lys4168Met) c.12479A>T (p.Lys4160Met) c.12302A>T (p.Lys4101Met) c.12446A>T (p.Lys4149Met) c.12518A>T (p.Lys4173Met) | |
1 | g.237784198G>A | CA424032250 | RYR2 | c.*3578G>A (n.*3578G>A) c.12474G>A (p.Lys4158=) c.12507G>A (p.Lys4169=) c.4663G>A c.12486G>A (p.Lys4162=) c.2539G>A c.12438G>A (p.Lys4146=) n.3681G>A c.12540G>A (p.Lys4180=) c.12537G>A (p.Lys4179=) c.12516G>A (p.Lys4172=) c.12510G>A (p.Lys4170=) c.12504G>A (p.Lys4168=) c.12480G>A (p.Lys4160=) c.12303G>A (p.Lys4101=) c.12447G>A (p.Lys4149=) c.12519G>A (p.Lys4173=) | gnomAD v4 |
1 | g.237784198G>C | CA345413448 | RYR2 | c.*3578G>C (n.*3578G>C) c.12474G>C (p.Lys4158Asn) c.12507G>C (p.Lys4169Asn) c.4663G>C c.12486G>C (p.Lys4162Asn) c.2539G>C c.12438G>C (p.Lys4146Asn) n.3681G>C c.12540G>C (p.Lys4180Asn) c.12537G>C (p.Lys4179Asn) c.12516G>C (p.Lys4172Asn) c.12510G>C (p.Lys4170Asn) c.12504G>C (p.Lys4168Asn) c.12480G>C (p.Lys4160Asn) c.12303G>C (p.Lys4101Asn) c.12447G>C (p.Lys4149Asn) c.12519G>C (p.Lys4173Asn) | |
1 | g.237784198G>T | CA345413447 | RYR2 | c.*3578G>T (n.*3578G>T) c.12474G>T (p.Lys4158Asn) c.12507G>T (p.Lys4169Asn) c.4663G>T c.12486G>T (p.Lys4162Asn) c.2539G>T c.12438G>T (p.Lys4146Asn) n.3681G>T c.12540G>T (p.Lys4180Asn) c.12537G>T (p.Lys4179Asn) c.12516G>T (p.Lys4172Asn) c.12510G>T (p.Lys4170Asn) c.12504G>T (p.Lys4168Asn) c.12480G>T (p.Lys4160Asn) c.12303G>T (p.Lys4101Asn) c.12447G>T (p.Lys4149Asn) c.12519G>T (p.Lys4173Asn) | |
1 | g.237784199C>A | CA345413449 | RYR2 | c.*3579C>A (n.*3579C>A) c.12475C>A (p.Pro4159Thr) c.12508C>A (p.Pro4170Thr) c.4664C>A c.12487C>A (p.Pro4163Thr) c.2540C>A c.12439C>A (p.Pro4147Thr) n.3682C>A c.12541C>A (p.Pro4181Thr) c.12538C>A (p.Pro4180Thr) c.12517C>A (p.Pro4173Thr) c.12511C>A (p.Pro4171Thr) c.12505C>A (p.Pro4169Thr) c.12481C>A (p.Pro4161Thr) c.12304C>A (p.Pro4102Thr) c.12448C>A (p.Pro4150Thr) c.12520C>A (p.Pro4174Thr) | dbSNP |
1 | g.237784199C= | CA2487482425 | RYR2 | c.*3579C= (n.*3579C=) c.12475C= (p.Pro4159=) c.12508C= (p.Pro4170=) c.4664C= c.12487C= (p.Pro4163=) c.2540C= c.12439C= (p.Pro4147=) n.3682C= c.12541C= (p.Pro4181=) c.12538C= (p.Pro4180=) c.12517C= (p.Pro4173=) c.12511C= (p.Pro4171=) c.12505C= (p.Pro4169=) c.12481C= (p.Pro4161=) c.12304C= (p.Pro4102=) c.12448C= (p.Pro4150=) c.12520C= (p.Pro4174=) | |
1 | g.237784199C>G | CA345413450 | RYR2 | c.*3579C>G (n.*3579C>G) c.12475C>G (p.Pro4159Ala) c.12508C>G (p.Pro4170Ala) c.4664C>G c.12487C>G (p.Pro4163Ala) c.2540C>G c.12439C>G (p.Pro4147Ala) n.3682C>G c.12541C>G (p.Pro4181Ala) c.12538C>G (p.Pro4180Ala) c.12517C>G (p.Pro4173Ala) c.12511C>G (p.Pro4171Ala) c.12505C>G (p.Pro4169Ala) c.12481C>G (p.Pro4161Ala) c.12304C>G (p.Pro4102Ala) c.12448C>G (p.Pro4150Ala) c.12520C>G (p.Pro4174Ala) | ClinVar |
1 | g.237784199C>T | CA345413451 | RYR2 | c.*3579C>T (n.*3579C>T) c.12475C>T (p.Pro4159Ser) c.12508C>T (p.Pro4170Ser) c.4664C>T c.12487C>T (p.Pro4163Ser) c.2540C>T c.12439C>T (p.Pro4147Ser) n.3682C>T c.12541C>T (p.Pro4181Ser) c.12538C>T (p.Pro4180Ser) c.12517C>T (p.Pro4173Ser) c.12511C>T (p.Pro4171Ser) c.12505C>T (p.Pro4169Ser) c.12481C>T (p.Pro4161Ser) c.12304C>T (p.Pro4102Ser) c.12448C>T (p.Pro4150Ser) c.12520C>T (p.Pro4174Ser) | |
1 | g.237784200C>A | CA345413452 | RYR2 | c.*3580C>A (n.*3580C>A) c.12476C>A (p.Pro4159His) c.12509C>A (p.Pro4170His) c.4665C>A c.12488C>A (p.Pro4163His) c.2541C>A c.12440C>A (p.Pro4147His) n.3683C>A c.12542C>A (p.Pro4181His) c.12539C>A (p.Pro4180His) c.12518C>A (p.Pro4173His) c.12512C>A (p.Pro4171His) c.12506C>A (p.Pro4169His) c.12482C>A (p.Pro4161His) c.12305C>A (p.Pro4102His) c.12449C>A (p.Pro4150His) c.12521C>A (p.Pro4174His) | |
1 | g.237784200C>G | CA345413453 | RYR2 | c.*3580C>G (n.*3580C>G) c.12476C>G (p.Pro4159Arg) c.12509C>G (p.Pro4170Arg) c.4665C>G c.12488C>G (p.Pro4163Arg) c.2541C>G c.12440C>G (p.Pro4147Arg) n.3683C>G c.12542C>G (p.Pro4181Arg) c.12539C>G (p.Pro4180Arg) c.12518C>G (p.Pro4173Arg) c.12512C>G (p.Pro4171Arg) c.12506C>G (p.Pro4169Arg) c.12482C>G (p.Pro4161Arg) c.12305C>G (p.Pro4102Arg) c.12449C>G (p.Pro4150Arg) c.12521C>G (p.Pro4174Arg) | |
1 | g.237784200C>T | CA345413454 | RYR2 | c.*3580C>T (n.*3580C>T) c.12476C>T (p.Pro4159Leu) c.12509C>T (p.Pro4170Leu) c.4665C>T c.12488C>T (p.Pro4163Leu) c.2541C>T c.12440C>T (p.Pro4147Leu) n.3683C>T c.12542C>T (p.Pro4181Leu) c.12539C>T (p.Pro4180Leu) c.12518C>T (p.Pro4173Leu) c.12512C>T (p.Pro4171Leu) c.12506C>T (p.Pro4169Leu) c.12482C>T (p.Pro4161Leu) c.12305C>T (p.Pro4102Leu) c.12449C>T (p.Pro4150Leu) c.12521C>T (p.Pro4174Leu) | COSMIC COSMIC |
1 | g.237784201C>A | CA424032254 | RYR2 | c.*3581C>A (n.*3581C>A) c.12477C>A (p.Pro4159=) c.12510C>A (p.Pro4170=) c.4666C>A c.12489C>A (p.Pro4163=) c.2542C>A c.12441C>A (p.Pro4147=) n.3684C>A c.12543C>A (p.Pro4181=) c.12540C>A (p.Pro4180=) c.12519C>A (p.Pro4173=) c.12513C>A (p.Pro4171=) c.12507C>A (p.Pro4169=) c.12483C>A (p.Pro4161=) c.12306C>A (p.Pro4102=) c.12450C>A (p.Pro4150=) c.12522C>A (p.Pro4174=) | |
1 | g.237784201C= | CA2487482426 | RYR2 | c.*3581C= (n.*3581C=) c.12477C= (p.Pro4159=) c.12510C= (p.Pro4170=) c.4666C= c.12489C= (p.Pro4163=) c.2542C= c.12441C= (p.Pro4147=) n.3684C= c.12543C= (p.Pro4181=) c.12540C= (p.Pro4180=) c.12519C= (p.Pro4173=) c.12513C= (p.Pro4171=) c.12507C= (p.Pro4169=) c.12483C= (p.Pro4161=) c.12306C= (p.Pro4102=) c.12450C= (p.Pro4150=) c.12522C= (p.Pro4174=) | |
1 | g.237784201C>G | CA424032253 | RYR2 | c.*3581C>G (n.*3581C>G) c.12477C>G (p.Pro4159=) c.12510C>G (p.Pro4170=) c.4666C>G c.12489C>G (p.Pro4163=) c.2542C>G c.12441C>G (p.Pro4147=) n.3684C>G c.12543C>G (p.Pro4181=) c.12540C>G (p.Pro4180=) c.12519C>G (p.Pro4173=) c.12513C>G (p.Pro4171=) c.12507C>G (p.Pro4169=) c.12483C>G (p.Pro4161=) c.12306C>G (p.Pro4102=) c.12450C>G (p.Pro4150=) c.12522C>G (p.Pro4174=) | |
1 | g.237784201C>T | CA085188 | RYR2 | c.*3581C>T (n.*3581C>T) c.12477C>T (p.Pro4159=) c.12510C>T (p.Pro4170=) c.4666C>T c.12489C>T (p.Pro4163=) c.2542C>T c.12441C>T (p.Pro4147=) n.3684C>T c.12543C>T (p.Pro4181=) c.12540C>T (p.Pro4180=) c.12519C>T (p.Pro4173=) c.12513C>T (p.Pro4171=) c.12507C>T (p.Pro4169=) c.12483C>T (p.Pro4161=) c.12306C>T (p.Pro4102=) c.12450C>T (p.Pro4150=) c.12522C>T (p.Pro4174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784202C>A | CA345413458 | RYR2 | c.*3582C>A (n.*3582C>A) c.12478C>A (p.Gln4160Lys) c.12511C>A (p.Gln4171Lys) c.4667C>A c.12490C>A (p.Gln4164Lys) c.2543C>A c.12442C>A (p.Gln4148Lys) n.3685C>A c.12544C>A (p.Gln4182Lys) c.12541C>A (p.Gln4181Lys) c.12520C>A (p.Gln4174Lys) c.12514C>A (p.Gln4172Lys) c.12508C>A (p.Gln4170Lys) c.12484C>A (p.Gln4162Lys) c.12307C>A (p.Gln4103Lys) c.12451C>A (p.Gln4151Lys) c.12523C>A (p.Gln4175Lys) | |
1 | g.237784202C>G | CA345413459 | RYR2 | c.*3582C>G (n.*3582C>G) c.12478C>G (p.Gln4160Glu) c.12511C>G (p.Gln4171Glu) c.4667C>G c.12490C>G (p.Gln4164Glu) c.2543C>G c.12442C>G (p.Gln4148Glu) n.3685C>G c.12544C>G (p.Gln4182Glu) c.12541C>G (p.Gln4181Glu) c.12520C>G (p.Gln4174Glu) c.12514C>G (p.Gln4172Glu) c.12508C>G (p.Gln4170Glu) c.12484C>G (p.Gln4162Glu) c.12307C>G (p.Gln4103Glu) c.12451C>G (p.Gln4151Glu) c.12523C>G (p.Gln4175Glu) | |
1 | g.237784202C>T | CA345413460 | RYR2 | c.*3582C>T (n.*3582C>T) c.12478C>T (p.Gln4160Ter) c.12511C>T (p.Gln4171Ter) c.4667C>T c.12490C>T (p.Gln4164Ter) c.2543C>T c.12442C>T (p.Gln4148Ter) n.3685C>T c.12544C>T (p.Gln4182Ter) c.12541C>T (p.Gln4181Ter) c.12520C>T (p.Gln4174Ter) c.12514C>T (p.Gln4172Ter) c.12508C>T (p.Gln4170Ter) c.12484C>T (p.Gln4162Ter) c.12307C>T (p.Gln4103Ter) c.12451C>T (p.Gln4151Ter) c.12523C>T (p.Gln4175Ter) | |
1 | g.237784203A>C | CA345413461 | RYR2 | c.*3583A>C (n.*3583A>C) c.12479A>C (p.Gln4160Pro) c.12512A>C (p.Gln4171Pro) c.4668A>C c.12491A>C (p.Gln4164Pro) c.2544A>C c.12443A>C (p.Gln4148Pro) n.3686A>C c.12545A>C (p.Gln4182Pro) c.12542A>C (p.Gln4181Pro) c.12521A>C (p.Gln4174Pro) c.12515A>C (p.Gln4172Pro) c.12509A>C (p.Gln4170Pro) c.12485A>C (p.Gln4162Pro) c.12308A>C (p.Gln4103Pro) c.12452A>C (p.Gln4151Pro) c.12524A>C (p.Gln4175Pro) | |
1 | g.237784203A>G | CA345413462 | RYR2 | c.*3583A>G (n.*3583A>G) c.12479A>G (p.Gln4160Arg) c.12512A>G (p.Gln4171Arg) c.4668A>G c.12491A>G (p.Gln4164Arg) c.2544A>G c.12443A>G (p.Gln4148Arg) n.3686A>G c.12545A>G (p.Gln4182Arg) c.12542A>G (p.Gln4181Arg) c.12521A>G (p.Gln4174Arg) c.12515A>G (p.Gln4172Arg) c.12509A>G (p.Gln4170Arg) c.12485A>G (p.Gln4162Arg) c.12308A>G (p.Gln4103Arg) c.12452A>G (p.Gln4151Arg) c.12524A>G (p.Gln4175Arg) | |
1 | g.237784203A>T | CA345413463 | RYR2 | c.*3583A>T (n.*3583A>T) c.12479A>T (p.Gln4160Leu) c.12512A>T (p.Gln4171Leu) c.4668A>T c.12491A>T (p.Gln4164Leu) c.2544A>T c.12443A>T (p.Gln4148Leu) n.3686A>T c.12545A>T (p.Gln4182Leu) c.12542A>T (p.Gln4181Leu) c.12521A>T (p.Gln4174Leu) c.12515A>T (p.Gln4172Leu) c.12509A>T (p.Gln4170Leu) c.12485A>T (p.Gln4162Leu) c.12308A>T (p.Gln4103Leu) c.12452A>T (p.Gln4151Leu) c.12524A>T (p.Gln4175Leu) | |
1 | g.237784204G>A | CA007543 | RYR2 | c.*3584G>A (n.*3584G>A) c.12480G>A (p.Gln4160=) c.12513G>A (p.Gln4171=) c.4669G>A c.12492G>A (p.Gln4164=) c.2545G>A c.12444G>A (p.Gln4148=) n.3687G>A c.12546G>A (p.Gln4182=) c.12543G>A (p.Gln4181=) c.12522G>A (p.Gln4174=) c.12516G>A (p.Gln4172=) c.12510G>A (p.Gln4170=) c.12486G>A (p.Gln4162=) c.12309G>A (p.Gln4103=) c.12453G>A (p.Gln4151=) c.12525G>A (p.Gln4175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.237784204G>C | CA345413464 | RYR2 | c.*3584G>C (n.*3584G>C) c.12480G>C (p.Gln4160His) c.12513G>C (p.Gln4171His) c.4669G>C c.12492G>C (p.Gln4164His) c.2545G>C c.12444G>C (p.Gln4148His) n.3687G>C c.12546G>C (p.Gln4182His) c.12543G>C (p.Gln4181His) c.12522G>C (p.Gln4174His) c.12516G>C (p.Gln4172His) c.12510G>C (p.Gln4170His) c.12486G>C (p.Gln4162His) c.12309G>C (p.Gln4103His) c.12453G>C (p.Gln4151His) c.12525G>C (p.Gln4175His) | |
1 | g.237784204G= | CA1144183738 | RYR2 | c.*3584G= (n.*3584G=) c.12480G= (p.Gln4160=) c.12513G= (p.Gln4171=) c.4669G= c.12492G= (p.Gln4164=) c.2545G= c.12444G= (p.Gln4148=) n.3687G= c.12546G= (p.Gln4182=) c.12543G= (p.Gln4181=) c.12522G= (p.Gln4174=) c.12516G= (p.Gln4172=) c.12510G= (p.Gln4170=) c.12486G= (p.Gln4162=) c.12309G= (p.Gln4103=) c.12453G= (p.Gln4151=) c.12525G= (p.Gln4175=) | |
1 | g.237784204G>T | CA345413465 | RYR2 | c.*3584G>T (n.*3584G>T) c.12480G>T (p.Gln4160His) c.12513G>T (p.Gln4171His) c.4669G>T c.12492G>T (p.Gln4164His) c.2545G>T c.12444G>T (p.Gln4148His) n.3687G>T c.12546G>T (p.Gln4182His) c.12543G>T (p.Gln4181His) c.12522G>T (p.Gln4174His) c.12516G>T (p.Gln4172His) c.12510G>T (p.Gln4170His) c.12486G>T (p.Gln4162His) c.12309G>T (p.Gln4103His) c.12453G>T (p.Gln4151His) c.12525G>T (p.Gln4175His) | COSMIC COSMIC |
1 | g.237784205G>A | CA345413466 | RYR2 | c.*3585G>A (n.*3585G>A) c.12481G>A (p.Val4161Ile) c.12514G>A (p.Val4172Ile) c.4670G>A c.12493G>A (p.Val4165Ile) c.2546G>A c.12445G>A (p.Val4149Ile) n.3688G>A c.12547G>A (p.Val4183Ile) c.12544G>A (p.Val4182Ile) c.12523G>A (p.Val4175Ile) c.12517G>A (p.Val4173Ile) c.12511G>A (p.Val4171Ile) c.12487G>A (p.Val4163Ile) c.12310G>A (p.Val4104Ile) c.12454G>A (p.Val4152Ile) c.12526G>A (p.Val4176Ile) | |
1 | g.237784205G>C | CA345413467 | RYR2 | c.*3585G>C (n.*3585G>C) c.12481G>C (p.Val4161Leu) c.12514G>C (p.Val4172Leu) c.4670G>C c.12493G>C (p.Val4165Leu) c.2546G>C c.12445G>C (p.Val4149Leu) n.3688G>C c.12547G>C (p.Val4183Leu) c.12544G>C (p.Val4182Leu) c.12523G>C (p.Val4175Leu) c.12517G>C (p.Val4173Leu) c.12511G>C (p.Val4171Leu) c.12487G>C (p.Val4163Leu) c.12310G>C (p.Val4104Leu) c.12454G>C (p.Val4152Leu) c.12526G>C (p.Val4176Leu) | |
1 | g.237784205G>T | CA345413468 | RYR2 | c.*3585G>T (n.*3585G>T) c.12481G>T (p.Val4161Phe) c.12514G>T (p.Val4172Phe) c.4670G>T c.12493G>T (p.Val4165Phe) c.2546G>T c.12445G>T (p.Val4149Phe) n.3688G>T c.12547G>T (p.Val4183Phe) c.12544G>T (p.Val4182Phe) c.12523G>T (p.Val4175Phe) c.12517G>T (p.Val4173Phe) c.12511G>T (p.Val4171Phe) c.12487G>T (p.Val4163Phe) c.12310G>T (p.Val4104Phe) c.12454G>T (p.Val4152Phe) c.12526G>T (p.Val4176Phe) | |
1 | g.237784206T>A | CA345413469 | RYR2 | c.*3586T>A (n.*3586T>A) c.12482T>A (p.Val4161Asp) c.12515T>A (p.Val4172Asp) c.4671T>A c.12494T>A (p.Val4165Asp) c.2547T>A c.12446T>A (p.Val4149Asp) n.3689T>A c.12548T>A (p.Val4183Asp) c.12545T>A (p.Val4182Asp) c.12524T>A (p.Val4175Asp) c.12518T>A (p.Val4173Asp) c.12512T>A (p.Val4171Asp) c.12488T>A (p.Val4163Asp) c.12311T>A (p.Val4104Asp) c.12455T>A (p.Val4152Asp) c.12527T>A (p.Val4176Asp) | |
1 | g.237784206T>C | CA345413470 | RYR2 | c.*3586T>C (n.*3586T>C) c.12482T>C (p.Val4161Ala) c.12515T>C (p.Val4172Ala) c.4671T>C c.12494T>C (p.Val4165Ala) c.2547T>C c.12446T>C (p.Val4149Ala) n.3689T>C c.12548T>C (p.Val4183Ala) c.12545T>C (p.Val4182Ala) c.12524T>C (p.Val4175Ala) c.12518T>C (p.Val4173Ala) c.12512T>C (p.Val4171Ala) c.12488T>C (p.Val4163Ala) c.12311T>C (p.Val4104Ala) c.12455T>C (p.Val4152Ala) c.12527T>C (p.Val4176Ala) | ClinVar |
1 | g.237784206T>G | CA345413471 | RYR2 | c.*3586T>G (n.*3586T>G) c.12482T>G (p.Val4161Gly) c.12515T>G (p.Val4172Gly) c.4671T>G c.12494T>G (p.Val4165Gly) c.2547T>G c.12446T>G (p.Val4149Gly) n.3689T>G c.12548T>G (p.Val4183Gly) c.12545T>G (p.Val4182Gly) c.12524T>G (p.Val4175Gly) c.12518T>G (p.Val4173Gly) c.12512T>G (p.Val4171Gly) c.12488T>G (p.Val4163Gly) c.12311T>G (p.Val4104Gly) c.12455T>G (p.Val4152Gly) c.12527T>G (p.Val4176Gly) | |
1 | g.237784207C>A | CA424032260 | RYR2 | c.*3587C>A (n.*3587C>A) c.12483C>A (p.Val4161=) c.12516C>A (p.Val4172=) c.4672C>A c.12495C>A (p.Val4165=) c.2548C>A c.12447C>A (p.Val4149=) n.3690C>A c.12549C>A (p.Val4183=) c.12546C>A (p.Val4182=) c.12525C>A (p.Val4175=) c.12519C>A (p.Val4173=) c.12513C>A (p.Val4171=) c.12489C>A (p.Val4163=) c.12312C>A (p.Val4104=) c.12456C>A (p.Val4152=) c.12528C>A (p.Val4176=) | |
1 | g.237784207C>G | CA424032262 | RYR2 | c.*3587C>G (n.*3587C>G) c.12483C>G (p.Val4161=) c.12516C>G (p.Val4172=) c.4672C>G c.12495C>G (p.Val4165=) c.2548C>G c.12447C>G (p.Val4149=) n.3690C>G c.12549C>G (p.Val4183=) c.12546C>G (p.Val4182=) c.12525C>G (p.Val4175=) c.12519C>G (p.Val4173=) c.12513C>G (p.Val4171=) c.12489C>G (p.Val4163=) c.12312C>G (p.Val4104=) c.12456C>G (p.Val4152=) c.12528C>G (p.Val4176=) | COSMIC |
1 | g.237784207C>T | CA424032261 | RYR2 | c.*3587C>T (n.*3587C>T) c.12483C>T (p.Val4161=) c.12516C>T (p.Val4172=) c.4672C>T c.12495C>T (p.Val4165=) c.2548C>T c.12447C>T (p.Val4149=) n.3690C>T c.12549C>T (p.Val4183=) c.12546C>T (p.Val4182=) c.12525C>T (p.Val4175=) c.12519C>T (p.Val4173=) c.12513C>T (p.Val4171=) c.12489C>T (p.Val4163=) c.12312C>T (p.Val4104=) c.12456C>T (p.Val4152=) c.12528C>T (p.Val4176=) | |
1 | g.237784208A>C | CA345413472 | RYR2 | c.*3588A>C (n.*3588A>C) c.12484A>C (p.Lys4162Gln) c.12517A>C (p.Lys4173Gln) c.4673A>C c.12496A>C (p.Lys4166Gln) c.2549A>C c.12448A>C (p.Lys4150Gln) n.3691A>C c.12550A>C (p.Lys4184Gln) c.12547A>C (p.Lys4183Gln) c.12526A>C (p.Lys4176Gln) c.12520A>C (p.Lys4174Gln) c.12514A>C (p.Lys4172Gln) c.12490A>C (p.Lys4164Gln) c.12313A>C (p.Lys4105Gln) c.12457A>C (p.Lys4153Gln) c.12529A>C (p.Lys4177Gln) | |
1 | g.237784208A>G | CA345413473 | RYR2 | c.*3588A>G (n.*3588A>G) c.12484A>G (p.Lys4162Glu) c.12517A>G (p.Lys4173Glu) c.4673A>G c.12496A>G (p.Lys4166Glu) c.2549A>G c.12448A>G (p.Lys4150Glu) n.3691A>G c.12550A>G (p.Lys4184Glu) c.12547A>G (p.Lys4183Glu) c.12526A>G (p.Lys4176Glu) c.12520A>G (p.Lys4174Glu) c.12514A>G (p.Lys4172Glu) c.12490A>G (p.Lys4164Glu) c.12313A>G (p.Lys4105Glu) c.12457A>G (p.Lys4153Glu) c.12529A>G (p.Lys4177Glu) | |
1 | g.237784208A>T | CA345413474 | RYR2 | c.*3588A>T (n.*3588A>T) c.12484A>T (p.Lys4162Ter) c.12517A>T (p.Lys4173Ter) c.4673A>T c.12496A>T (p.Lys4166Ter) c.2549A>T c.12448A>T (p.Lys4150Ter) n.3691A>T c.12550A>T (p.Lys4184Ter) c.12547A>T (p.Lys4183Ter) c.12526A>T (p.Lys4176Ter) c.12520A>T (p.Lys4174Ter) c.12514A>T (p.Lys4172Ter) c.12490A>T (p.Lys4164Ter) c.12313A>T (p.Lys4105Ter) c.12457A>T (p.Lys4153Ter) c.12529A>T (p.Lys4177Ter) | |
1 | g.237784209A= | CA2487482427 | RYR2 | c.*3589A= (n.*3589A=) c.12485A= (p.Lys4162=) c.12518A= (p.Lys4173=) c.4674A= c.12497A= (p.Lys4166=) c.2550A= c.12449A= (p.Lys4150=) n.3692A= c.12551A= (p.Lys4184=) c.12548A= (p.Lys4183=) c.12527A= (p.Lys4176=) c.12521A= (p.Lys4174=) c.12515A= (p.Lys4172=) c.12491A= (p.Lys4164=) c.12314A= (p.Lys4105=) c.12458A= (p.Lys4153=) c.12530A= (p.Lys4177=) | |
1 | g.237784209A>C | CA345413475 | RYR2 | c.*3589A>C (n.*3589A>C) c.12485A>C (p.Lys4162Thr) c.12518A>C (p.Lys4173Thr) c.4674A>C c.12497A>C (p.Lys4166Thr) c.2550A>C c.12449A>C (p.Lys4150Thr) n.3692A>C c.12551A>C (p.Lys4184Thr) c.12548A>C (p.Lys4183Thr) c.12527A>C (p.Lys4176Thr) c.12521A>C (p.Lys4174Thr) c.12515A>C (p.Lys4172Thr) c.12491A>C (p.Lys4164Thr) c.12314A>C (p.Lys4105Thr) c.12458A>C (p.Lys4153Thr) c.12530A>C (p.Lys4177Thr) | |
1 | g.237784209A>G | CA345413476 | RYR2 | c.*3589A>G (n.*3589A>G) c.12485A>G (p.Lys4162Arg) c.12518A>G (p.Lys4173Arg) c.4674A>G c.12497A>G (p.Lys4166Arg) c.2550A>G c.12449A>G (p.Lys4150Arg) n.3692A>G c.12551A>G (p.Lys4184Arg) c.12548A>G (p.Lys4183Arg) c.12527A>G (p.Lys4176Arg) c.12521A>G (p.Lys4174Arg) c.12515A>G (p.Lys4172Arg) c.12491A>G (p.Lys4164Arg) c.12314A>G (p.Lys4105Arg) c.12458A>G (p.Lys4153Arg) c.12530A>G (p.Lys4177Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784209A>T | CA345413477 | RYR2 | c.*3589A>T (n.*3589A>T) c.12485A>T (p.Lys4162Met) c.12518A>T (p.Lys4173Met) c.4674A>T c.12497A>T (p.Lys4166Met) c.2550A>T c.12449A>T (p.Lys4150Met) n.3692A>T c.12551A>T (p.Lys4184Met) c.12548A>T (p.Lys4183Met) c.12527A>T (p.Lys4176Met) c.12521A>T (p.Lys4174Met) c.12515A>T (p.Lys4172Met) c.12491A>T (p.Lys4164Met) c.12314A>T (p.Lys4105Met) c.12458A>T (p.Lys4153Met) c.12530A>T (p.Lys4177Met) | |
1 | g.237784210G>A | CA085190 | RYR2 | c.*3590G>A (n.*3590G>A) c.12486G>A (p.Lys4162=) c.12519G>A (p.Lys4173=) c.4675G>A c.12498G>A (p.Lys4166=) c.2551G>A c.12450G>A (p.Lys4150=) n.3693G>A c.12552G>A (p.Lys4184=) c.12549G>A (p.Lys4183=) c.12528G>A (p.Lys4176=) c.12522G>A (p.Lys4174=) c.12516G>A (p.Lys4172=) c.12492G>A (p.Lys4164=) c.12315G>A (p.Lys4105=) c.12459G>A (p.Lys4153=) c.12531G>A (p.Lys4177=) | dbSNP ExAC |
1 | g.237784210G>C | CA345413479 | RYR2 | c.*3590G>C (n.*3590G>C) c.12486G>C (p.Lys4162Asn) c.12519G>C (p.Lys4173Asn) c.4675G>C c.12498G>C (p.Lys4166Asn) c.2551G>C c.12450G>C (p.Lys4150Asn) n.3693G>C c.12552G>C (p.Lys4184Asn) c.12549G>C (p.Lys4183Asn) c.12528G>C (p.Lys4176Asn) c.12522G>C (p.Lys4174Asn) c.12516G>C (p.Lys4172Asn) c.12492G>C (p.Lys4164Asn) c.12315G>C (p.Lys4105Asn) c.12459G>C (p.Lys4153Asn) c.12531G>C (p.Lys4177Asn) | |
1 | g.237784210G= | CA2487482428 | RYR2 | c.*3590G= (n.*3590G=) c.12486G= (p.Lys4162=) c.12519G= (p.Lys4173=) c.4675G= c.12498G= (p.Lys4166=) c.2551G= c.12450G= (p.Lys4150=) n.3693G= c.12552G= (p.Lys4184=) c.12549G= (p.Lys4183=) c.12528G= (p.Lys4176=) c.12522G= (p.Lys4174=) c.12516G= (p.Lys4172=) c.12492G= (p.Lys4164=) c.12315G= (p.Lys4105=) c.12459G= (p.Lys4153=) c.12531G= (p.Lys4177=) | |
1 | g.237784210G>T | CA345413478 | RYR2 | c.*3590G>T (n.*3590G>T) c.12486G>T (p.Lys4162Asn) c.12519G>T (p.Lys4173Asn) c.4675G>T c.12498G>T (p.Lys4166Asn) c.2551G>T c.12450G>T (p.Lys4150Asn) n.3693G>T c.12552G>T (p.Lys4184Asn) c.12549G>T (p.Lys4183Asn) c.12528G>T (p.Lys4176Asn) c.12522G>T (p.Lys4174Asn) c.12516G>T (p.Lys4172Asn) c.12492G>T (p.Lys4164Asn) c.12315G>T (p.Lys4105Asn) c.12459G>T (p.Lys4153Asn) c.12531G>T (p.Lys4177Asn) | |
1 | g.237784211G>A | CA345413480 | RYR2 | c.*3591G>A (n.*3591G>A) c.12487G>A (p.Glu4163Lys) c.12520G>A (p.Glu4174Lys) c.4676G>A c.12499G>A (p.Glu4167Lys) c.2552G>A c.12451G>A (p.Glu4151Lys) n.3694G>A c.12553G>A (p.Glu4185Lys) c.12550G>A (p.Glu4184Lys) c.12529G>A (p.Glu4177Lys) c.12523G>A (p.Glu4175Lys) c.12517G>A (p.Glu4173Lys) c.12493G>A (p.Glu4165Lys) c.12316G>A (p.Glu4106Lys) c.12460G>A (p.Glu4154Lys) c.12532G>A (p.Glu4178Lys) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784211G>C | CA345413482 | RYR2 | c.*3591G>C (n.*3591G>C) c.12487G>C (p.Glu4163Gln) c.12520G>C (p.Glu4174Gln) c.4676G>C c.12499G>C (p.Glu4167Gln) c.2552G>C c.12451G>C (p.Glu4151Gln) n.3694G>C c.12553G>C (p.Glu4185Gln) c.12550G>C (p.Glu4184Gln) c.12529G>C (p.Glu4177Gln) c.12523G>C (p.Glu4175Gln) c.12517G>C (p.Glu4173Gln) c.12493G>C (p.Glu4165Gln) c.12316G>C (p.Glu4106Gln) c.12460G>C (p.Glu4154Gln) c.12532G>C (p.Glu4178Gln) | |
1 | g.237784211G= | CA2487482429 | RYR2 | c.*3591G= (n.*3591G=) c.12487G= (p.Glu4163=) c.12520G= (p.Glu4174=) c.4676G= c.12499G= (p.Glu4167=) c.2552G= c.12451G= (p.Glu4151=) n.3694G= c.12553G= (p.Glu4185=) c.12550G= (p.Glu4184=) c.12529G= (p.Glu4177=) c.12523G= (p.Glu4175=) c.12517G= (p.Glu4173=) c.12493G= (p.Glu4165=) c.12316G= (p.Glu4106=) c.12460G= (p.Glu4154=) c.12532G= (p.Glu4178=) | |
1 | g.237784211G>T | CA345413481 | RYR2 | c.*3591G>T (n.*3591G>T) c.12487G>T (p.Glu4163Ter) c.12520G>T (p.Glu4174Ter) c.4676G>T c.12499G>T (p.Glu4167Ter) c.2552G>T c.12451G>T (p.Glu4151Ter) n.3694G>T c.12553G>T (p.Glu4185Ter) c.12550G>T (p.Glu4184Ter) c.12529G>T (p.Glu4177Ter) c.12523G>T (p.Glu4175Ter) c.12517G>T (p.Glu4173Ter) c.12493G>T (p.Glu4165Ter) c.12316G>T (p.Glu4106Ter) c.12460G>T (p.Glu4154Ter) c.12532G>T (p.Glu4178Ter) | gnomAD v4 |
1 | g.237784212A>C | CA345413483 | RYR2 | c.*3592A>C (n.*3592A>C) c.12488A>C (p.Glu4163Ala) c.12521A>C (p.Glu4174Ala) c.4677A>C c.12500A>C (p.Glu4167Ala) c.2553A>C c.12452A>C (p.Glu4151Ala) n.3695A>C c.12554A>C (p.Glu4185Ala) c.12551A>C (p.Glu4184Ala) c.12530A>C (p.Glu4177Ala) c.12524A>C (p.Glu4175Ala) c.12518A>C (p.Glu4173Ala) c.12494A>C (p.Glu4165Ala) c.12317A>C (p.Glu4106Ala) c.12461A>C (p.Glu4154Ala) c.12533A>C (p.Glu4178Ala) | |
1 | g.237784212A>G | CA345413484 | RYR2 | c.*3592A>G (n.*3592A>G) c.12488A>G (p.Glu4163Gly) c.12521A>G (p.Glu4174Gly) c.4677A>G c.12500A>G (p.Glu4167Gly) c.2553A>G c.12452A>G (p.Glu4151Gly) n.3695A>G c.12554A>G (p.Glu4185Gly) c.12551A>G (p.Glu4184Gly) c.12530A>G (p.Glu4177Gly) c.12524A>G (p.Glu4175Gly) c.12518A>G (p.Glu4173Gly) c.12494A>G (p.Glu4165Gly) c.12317A>G (p.Glu4106Gly) c.12461A>G (p.Glu4154Gly) c.12533A>G (p.Glu4178Gly) | |
1 | g.237784212A>T | CA345413485 | RYR2 | c.*3592A>T (n.*3592A>T) c.12488A>T (p.Glu4163Val) c.12521A>T (p.Glu4174Val) c.4677A>T c.12500A>T (p.Glu4167Val) c.2553A>T c.12452A>T (p.Glu4151Val) n.3695A>T c.12554A>T (p.Glu4185Val) c.12551A>T (p.Glu4184Val) c.12530A>T (p.Glu4177Val) c.12524A>T (p.Glu4175Val) c.12518A>T (p.Glu4173Val) c.12494A>T (p.Glu4165Val) c.12317A>T (p.Glu4106Val) c.12461A>T (p.Glu4154Val) c.12533A>T (p.Glu4178Val) | |
1 | g.237784213G>A | CA424032265 | RYR2 | c.*3593G>A (n.*3593G>A) c.12489G>A (p.Glu4163=) c.12522G>A (p.Glu4174=) c.4678G>A c.12501G>A (p.Glu4167=) c.2554G>A c.12453G>A (p.Glu4151=) n.3696G>A c.12555G>A (p.Glu4185=) c.12552G>A (p.Glu4184=) c.12531G>A (p.Glu4177=) c.12525G>A (p.Glu4175=) c.12519G>A (p.Glu4173=) c.12495G>A (p.Glu4165=) c.12318G>A (p.Glu4106=) c.12462G>A (p.Glu4154=) c.12534G>A (p.Glu4178=) | gnomAD v4 |
1 | g.237784213G>C | CA345413486 | RYR2 | c.*3593G>C (n.*3593G>C) c.12489G>C (p.Glu4163Asp) c.12522G>C (p.Glu4174Asp) c.4678G>C c.12501G>C (p.Glu4167Asp) c.2554G>C c.12453G>C (p.Glu4151Asp) n.3696G>C c.12555G>C (p.Glu4185Asp) c.12552G>C (p.Glu4184Asp) c.12531G>C (p.Glu4177Asp) c.12525G>C (p.Glu4175Asp) c.12519G>C (p.Glu4173Asp) c.12495G>C (p.Glu4165Asp) c.12318G>C (p.Glu4106Asp) c.12462G>C (p.Glu4154Asp) c.12534G>C (p.Glu4178Asp) | |
1 | g.237784213G>T | CA345413487 | RYR2 | c.*3593G>T (n.*3593G>T) c.12489G>T (p.Glu4163Asp) c.12522G>T (p.Glu4174Asp) c.4678G>T c.12501G>T (p.Glu4167Asp) c.2554G>T c.12453G>T (p.Glu4151Asp) n.3696G>T c.12555G>T (p.Glu4185Asp) c.12552G>T (p.Glu4184Asp) c.12531G>T (p.Glu4177Asp) c.12525G>T (p.Glu4175Asp) c.12519G>T (p.Glu4173Asp) c.12495G>T (p.Glu4165Asp) c.12318G>T (p.Glu4106Asp) c.12462G>T (p.Glu4154Asp) c.12534G>T (p.Glu4178Asp) | |
1 | g.237784214T>A | CA345413488 | RYR2 | c.*3594T>A (n.*3594T>A) c.12490T>A (p.Ser4164Thr) c.12523T>A (p.Ser4175Thr) c.4679T>A c.12502T>A (p.Ser4168Thr) c.2555T>A c.12454T>A (p.Ser4152Thr) n.3697T>A c.12556T>A (p.Ser4186Thr) c.12553T>A (p.Ser4185Thr) c.12532T>A (p.Ser4178Thr) c.12526T>A (p.Ser4176Thr) c.12520T>A (p.Ser4174Thr) c.12496T>A (p.Ser4166Thr) c.12319T>A (p.Ser4107Thr) c.12463T>A (p.Ser4155Thr) c.12535T>A (p.Ser4179Thr) | |
1 | g.237784214T>C | CA345413489 | RYR2 | c.*3594T>C (n.*3594T>C) c.12490T>C (p.Ser4164Pro) c.12523T>C (p.Ser4175Pro) c.4679T>C c.12502T>C (p.Ser4168Pro) c.2555T>C c.12454T>C (p.Ser4152Pro) n.3697T>C c.12556T>C (p.Ser4186Pro) c.12553T>C (p.Ser4185Pro) c.12532T>C (p.Ser4178Pro) c.12526T>C (p.Ser4176Pro) c.12520T>C (p.Ser4174Pro) c.12496T>C (p.Ser4166Pro) c.12319T>C (p.Ser4107Pro) c.12463T>C (p.Ser4155Pro) c.12535T>C (p.Ser4179Pro) | |
1 | g.237784214T>G | CA345413490 | RYR2 | c.*3594T>G (n.*3594T>G) c.12490T>G (p.Ser4164Ala) c.12523T>G (p.Ser4175Ala) c.4679T>G c.12502T>G (p.Ser4168Ala) c.2555T>G c.12454T>G (p.Ser4152Ala) n.3697T>G c.12556T>G (p.Ser4186Ala) c.12553T>G (p.Ser4185Ala) c.12532T>G (p.Ser4178Ala) c.12526T>G (p.Ser4176Ala) c.12520T>G (p.Ser4174Ala) c.12496T>G (p.Ser4166Ala) c.12319T>G (p.Ser4107Ala) c.12463T>G (p.Ser4155Ala) c.12535T>G (p.Ser4179Ala) | |
1 | g.237784215C>A | CA345413491 | RYR2 | c.*3595C>A (n.*3595C>A) c.12491C>A (p.Ser4164Tyr) c.12524C>A (p.Ser4175Tyr) c.4680C>A c.12503C>A (p.Ser4168Tyr) c.2556C>A c.12455C>A (p.Ser4152Tyr) n.3698C>A c.12557C>A (p.Ser4186Tyr) c.12554C>A (p.Ser4185Tyr) c.12533C>A (p.Ser4178Tyr) c.12527C>A (p.Ser4176Tyr) c.12521C>A (p.Ser4174Tyr) c.12497C>A (p.Ser4166Tyr) c.12320C>A (p.Ser4107Tyr) c.12464C>A (p.Ser4155Tyr) c.12536C>A (p.Ser4179Tyr) | COSMIC |
1 | g.237784215C>G | CA345413492 | RYR2 | c.*3595C>G (n.*3595C>G) c.12491C>G (p.Ser4164Cys) c.12524C>G (p.Ser4175Cys) c.4680C>G c.12503C>G (p.Ser4168Cys) c.2556C>G c.12455C>G (p.Ser4152Cys) n.3698C>G c.12557C>G (p.Ser4186Cys) c.12554C>G (p.Ser4185Cys) c.12533C>G (p.Ser4178Cys) c.12527C>G (p.Ser4176Cys) c.12521C>G (p.Ser4174Cys) c.12497C>G (p.Ser4166Cys) c.12320C>G (p.Ser4107Cys) c.12464C>G (p.Ser4155Cys) c.12536C>G (p.Ser4179Cys) | |
1 | g.237784215C>T | CA345413493 | RYR2 | c.*3595C>T (n.*3595C>T) c.12491C>T (p.Ser4164Phe) c.12524C>T (p.Ser4175Phe) c.4680C>T c.12503C>T (p.Ser4168Phe) c.2556C>T c.12455C>T (p.Ser4152Phe) n.3698C>T c.12557C>T (p.Ser4186Phe) c.12554C>T (p.Ser4185Phe) c.12533C>T (p.Ser4178Phe) c.12527C>T (p.Ser4176Phe) c.12521C>T (p.Ser4174Phe) c.12497C>T (p.Ser4166Phe) c.12320C>T (p.Ser4107Phe) c.12464C>T (p.Ser4155Phe) c.12536C>T (p.Ser4179Phe) | |
1 | g.237784216C>A | CA424032269 | RYR2 | c.*3596C>A (n.*3596C>A) c.12492C>A (p.Ser4164=) c.12525C>A (p.Ser4175=) c.4681C>A c.12504C>A (p.Ser4168=) c.2557C>A c.12456C>A (p.Ser4152=) n.3699C>A c.12558C>A (p.Ser4186=) c.12555C>A (p.Ser4185=) c.12534C>A (p.Ser4178=) c.12528C>A (p.Ser4176=) c.12522C>A (p.Ser4174=) c.12498C>A (p.Ser4166=) c.12321C>A (p.Ser4107=) c.12465C>A (p.Ser4155=) c.12537C>A (p.Ser4179=) | |
1 | g.237784216C= | CA2487482430 | RYR2 | c.*3596C= (n.*3596C=) c.12492C= (p.Ser4164=) c.12525C= (p.Ser4175=) c.4681C= c.12504C= (p.Ser4168=) c.2557C= c.12456C= (p.Ser4152=) n.3699C= c.12558C= (p.Ser4186=) c.12555C= (p.Ser4185=) c.12534C= (p.Ser4178=) c.12528C= (p.Ser4176=) c.12522C= (p.Ser4174=) c.12498C= (p.Ser4166=) c.12321C= (p.Ser4107=) c.12465C= (p.Ser4155=) c.12537C= (p.Ser4179=) | |
1 | g.237784216C>G | CA424032270 | RYR2 | c.*3596C>G (n.*3596C>G) c.12492C>G (p.Ser4164=) c.12525C>G (p.Ser4175=) c.4681C>G c.12504C>G (p.Ser4168=) c.2557C>G c.12456C>G (p.Ser4152=) n.3699C>G c.12558C>G (p.Ser4186=) c.12555C>G (p.Ser4185=) c.12534C>G (p.Ser4178=) c.12528C>G (p.Ser4176=) c.12522C>G (p.Ser4174=) c.12498C>G (p.Ser4166=) c.12321C>G (p.Ser4107=) c.12465C>G (p.Ser4155=) c.12537C>G (p.Ser4179=) | |
1 | g.237784216C>T | CA085192 | RYR2 | c.*3596C>T (n.*3596C>T) c.12492C>T (p.Ser4164=) c.12525C>T (p.Ser4175=) c.4681C>T c.12504C>T (p.Ser4168=) c.2557C>T c.12456C>T (p.Ser4152=) n.3699C>T c.12558C>T (p.Ser4186=) c.12555C>T (p.Ser4185=) c.12534C>T (p.Ser4178=) c.12528C>T (p.Ser4176=) c.12522C>T (p.Ser4174=) c.12498C>T (p.Ser4166=) c.12321C>T (p.Ser4107=) c.12465C>T (p.Ser4155=) c.12537C>T (p.Ser4179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784217A>C | CA345413494 | RYR2 | c.*3597A>C (n.*3597A>C) c.12493A>C (p.Lys4165Gln) c.12526A>C (p.Lys4176Gln) c.4682A>C c.12505A>C (p.Lys4169Gln) c.2558A>C c.12457A>C (p.Lys4153Gln) n.3700A>C c.12559A>C (p.Lys4187Gln) c.12556A>C (p.Lys4186Gln) c.12535A>C (p.Lys4179Gln) c.12529A>C (p.Lys4177Gln) c.12523A>C (p.Lys4175Gln) c.12499A>C (p.Lys4167Gln) c.12322A>C (p.Lys4108Gln) c.12466A>C (p.Lys4156Gln) c.12538A>C (p.Lys4180Gln) | |
1 | g.237784217A>G | CA345413496 | RYR2 | c.*3597A>G (n.*3597A>G) c.12493A>G (p.Lys4165Glu) c.12526A>G (p.Lys4176Glu) c.4682A>G c.12505A>G (p.Lys4169Glu) c.2558A>G c.12457A>G (p.Lys4153Glu) n.3700A>G c.12559A>G (p.Lys4187Glu) c.12556A>G (p.Lys4186Glu) c.12535A>G (p.Lys4179Glu) c.12529A>G (p.Lys4177Glu) c.12523A>G (p.Lys4175Glu) c.12499A>G (p.Lys4167Glu) c.12322A>G (p.Lys4108Glu) c.12466A>G (p.Lys4156Glu) c.12538A>G (p.Lys4180Glu) | |
1 | g.237784217A>T | CA345413495 | RYR2 | c.*3597A>T (n.*3597A>T) c.12493A>T (p.Lys4165Ter) c.12526A>T (p.Lys4176Ter) c.4682A>T c.12505A>T (p.Lys4169Ter) c.2558A>T c.12457A>T (p.Lys4153Ter) n.3700A>T c.12559A>T (p.Lys4187Ter) c.12556A>T (p.Lys4186Ter) c.12535A>T (p.Lys4179Ter) c.12529A>T (p.Lys4177Ter) c.12523A>T (p.Lys4175Ter) c.12499A>T (p.Lys4167Ter) c.12322A>T (p.Lys4108Ter) c.12466A>T (p.Lys4156Ter) c.12538A>T (p.Lys4180Ter) | |
1 | g.237784218A>C | CA345413497 | RYR2 | c.*3598A>C (n.*3598A>C) c.12494A>C (p.Lys4165Thr) c.12527A>C (p.Lys4176Thr) c.4683A>C c.12506A>C (p.Lys4169Thr) c.2559A>C c.12458A>C (p.Lys4153Thr) n.3701A>C c.12560A>C (p.Lys4187Thr) c.12557A>C (p.Lys4186Thr) c.12536A>C (p.Lys4179Thr) c.12530A>C (p.Lys4177Thr) c.12524A>C (p.Lys4175Thr) c.12500A>C (p.Lys4167Thr) c.12323A>C (p.Lys4108Thr) c.12467A>C (p.Lys4156Thr) c.12539A>C (p.Lys4180Thr) | |
1 | g.237784218A>G | CA345413498 | RYR2 | c.*3598A>G (n.*3598A>G) c.12494A>G (p.Lys4165Arg) c.12527A>G (p.Lys4176Arg) c.4683A>G c.12506A>G (p.Lys4169Arg) c.2559A>G c.12458A>G (p.Lys4153Arg) n.3701A>G c.12560A>G (p.Lys4187Arg) c.12557A>G (p.Lys4186Arg) c.12536A>G (p.Lys4179Arg) c.12530A>G (p.Lys4177Arg) c.12524A>G (p.Lys4175Arg) c.12500A>G (p.Lys4167Arg) c.12323A>G (p.Lys4108Arg) c.12467A>G (p.Lys4156Arg) c.12539A>G (p.Lys4180Arg) | |
1 | g.237784218A>T | CA345413499 | RYR2 | c.*3598A>T (n.*3598A>T) c.12494A>T (p.Lys4165Ile) c.12527A>T (p.Lys4176Ile) c.4683A>T c.12506A>T (p.Lys4169Ile) c.2559A>T c.12458A>T (p.Lys4153Ile) n.3701A>T c.12560A>T (p.Lys4187Ile) c.12557A>T (p.Lys4186Ile) c.12536A>T (p.Lys4179Ile) c.12530A>T (p.Lys4177Ile) c.12524A>T (p.Lys4175Ile) c.12500A>T (p.Lys4167Ile) c.12323A>T (p.Lys4108Ile) c.12467A>T (p.Lys4156Ile) c.12539A>T (p.Lys4180Ile) | |
1 | g.237784219A= | CA2487482431 | RYR2 | c.*3599A= (n.*3599A=) c.12495A= (p.Lys4165=) c.12528A= (p.Lys4176=) c.4684A= c.12507A= (p.Lys4169=) c.2560A= c.12459A= (p.Lys4153=) n.3702A= c.12561A= (p.Lys4187=) c.12558A= (p.Lys4186=) c.12537A= (p.Lys4179=) c.12531A= (p.Lys4177=) c.12525A= (p.Lys4175=) c.12501A= (p.Lys4167=) c.12324A= (p.Lys4108=) c.12468A= (p.Lys4156=) c.12540A= (p.Lys4180=) | |
1 | g.237784219A>C | CA345413500 | RYR2 | c.*3599A>C (n.*3599A>C) c.12495A>C (p.Lys4165Asn) c.12528A>C (p.Lys4176Asn) c.4684A>C c.12507A>C (p.Lys4169Asn) c.2560A>C c.12459A>C (p.Lys4153Asn) n.3702A>C c.12561A>C (p.Lys4187Asn) c.12558A>C (p.Lys4186Asn) c.12537A>C (p.Lys4179Asn) c.12531A>C (p.Lys4177Asn) c.12525A>C (p.Lys4175Asn) c.12501A>C (p.Lys4167Asn) c.12324A>C (p.Lys4108Asn) c.12468A>C (p.Lys4156Asn) c.12540A>C (p.Lys4180Asn) | |
1 | g.237784219A>G | CA424032274 | RYR2 | c.*3599A>G (n.*3599A>G) c.12495A>G (p.Lys4165=) c.12528A>G (p.Lys4176=) c.4684A>G c.12507A>G (p.Lys4169=) c.2560A>G c.12459A>G (p.Lys4153=) n.3702A>G c.12561A>G (p.Lys4187=) c.12558A>G (p.Lys4186=) c.12537A>G (p.Lys4179=) c.12531A>G (p.Lys4177=) c.12525A>G (p.Lys4175=) c.12501A>G (p.Lys4167=) c.12324A>G (p.Lys4108=) c.12468A>G (p.Lys4156=) c.12540A>G (p.Lys4180=) | |
1 | g.237784219A>T | CA345413501 | RYR2 | c.*3599A>T (n.*3599A>T) c.12495A>T (p.Lys4165Asn) c.12528A>T (p.Lys4176Asn) c.4684A>T c.12507A>T (p.Lys4169Asn) c.2560A>T c.12459A>T (p.Lys4153Asn) n.3702A>T c.12561A>T (p.Lys4187Asn) c.12558A>T (p.Lys4186Asn) c.12537A>T (p.Lys4179Asn) c.12531A>T (p.Lys4177Asn) c.12525A>T (p.Lys4175Asn) c.12501A>T (p.Lys4167Asn) c.12324A>T (p.Lys4108Asn) c.12468A>T (p.Lys4156Asn) c.12540A>T (p.Lys4180Asn) | |
1 | g.237784220A= | CA2487482432 | RYR2 | c.*3600A= (n.*3600A=) c.12496A= (p.Arg4166=) c.12529A= (p.Arg4177=) c.4685A= c.12508A= (p.Arg4170=) c.2561A= c.12460A= (p.Arg4154=) n.3703A= c.12562A= (p.Arg4188=) c.12559A= (p.Arg4187=) c.12538A= (p.Arg4180=) c.12532A= (p.Arg4178=) c.12526A= (p.Arg4176=) c.12502A= (p.Arg4168=) c.12325A= (p.Arg4109=) c.12469A= (p.Arg4157=) c.12541A= (p.Arg4181=) | |
1 | g.237784220A>C | CA424032275 | RYR2 | c.*3600A>C (n.*3600A>C) c.12496A>C (p.Arg4166=) c.12529A>C (p.Arg4177=) c.4685A>C c.12508A>C (p.Arg4170=) c.2561A>C c.12460A>C (p.Arg4154=) n.3703A>C c.12562A>C (p.Arg4188=) c.12559A>C (p.Arg4187=) c.12538A>C (p.Arg4180=) c.12532A>C (p.Arg4178=) c.12526A>C (p.Arg4176=) c.12502A>C (p.Arg4168=) c.12325A>C (p.Arg4109=) c.12469A>C (p.Arg4157=) c.12541A>C (p.Arg4181=) | |
1 | g.237784220A>G | CA345413502 | RYR2 | c.*3600A>G (n.*3600A>G) c.12496A>G (p.Arg4166Gly) c.12529A>G (p.Arg4177Gly) c.4685A>G c.12508A>G (p.Arg4170Gly) c.2561A>G c.12460A>G (p.Arg4154Gly) n.3703A>G c.12562A>G (p.Arg4188Gly) c.12559A>G (p.Arg4187Gly) c.12538A>G (p.Arg4180Gly) c.12532A>G (p.Arg4178Gly) c.12526A>G (p.Arg4176Gly) c.12502A>G (p.Arg4168Gly) c.12325A>G (p.Arg4109Gly) c.12469A>G (p.Arg4157Gly) c.12541A>G (p.Arg4181Gly) | dbSNP |
1 | g.237784220A>T | CA345413503 | RYR2 | c.*3600A>T (n.*3600A>T) c.12496A>T (p.Arg4166Ter) c.12529A>T (p.Arg4177Ter) c.4685A>T c.12508A>T (p.Arg4170Ter) c.2561A>T c.12460A>T (p.Arg4154Ter) n.3703A>T c.12562A>T (p.Arg4188Ter) c.12559A>T (p.Arg4187Ter) c.12538A>T (p.Arg4180Ter) c.12532A>T (p.Arg4178Ter) c.12526A>T (p.Arg4176Ter) c.12502A>T (p.Arg4168Ter) c.12325A>T (p.Arg4109Ter) c.12469A>T (p.Arg4157Ter) c.12541A>T (p.Arg4181Ter) | |
1 | g.237784222_237784225dup | CA658655635 | RYR2 | c.*3602_*3605dup (n.*3602_*3605dup) c.12498_12501dup (p.Phe4168ThrfsTer5) c.12531_12534dup (p.Phe4179ThrfsTer5) c.4687_4690dup c.12510_12513dup (p.Phe4172ThrfsTer5) c.2563_2566dup c.12462_12465dup (p.Phe4156ThrfsTer5) n.3705_3708dup c.12564_12567dup (p.Phe4190ThrfsTer5) c.12561_12564dup (p.Phe4189ThrfsTer5) c.12540_12543dup (p.Phe4182ThrfsTer5) c.12534_12537dup (p.Phe4180ThrfsTer5) c.12528_12531dup (p.Phe4178ThrfsTer5) c.12504_12507dup (p.Phe4170ThrfsTer5) c.12327_12330dup (p.Phe4111ThrfsTer5) c.12471_12474dup (p.Phe4159ThrfsTer5) c.12543_12546dup (p.Phe4183ThrfsTer5) | ClinVar dbSNP |
1 | g.237784221G>A | CA345413504 | RYR2 | c.*3601G>A (n.*3601G>A) c.12497G>A (p.Arg4166Lys) c.12530G>A (p.Arg4177Lys) c.4686G>A c.12509G>A (p.Arg4170Lys) c.2562G>A c.12461G>A (p.Arg4154Lys) n.3704G>A c.12563G>A (p.Arg4188Lys) c.12560G>A (p.Arg4187Lys) c.12539G>A (p.Arg4180Lys) c.12533G>A (p.Arg4178Lys) c.12527G>A (p.Arg4176Lys) c.12503G>A (p.Arg4168Lys) c.12326G>A (p.Arg4109Lys) c.12470G>A (p.Arg4157Lys) c.12542G>A (p.Arg4181Lys) | |
1 | g.237784221G>C | CA345413505 | RYR2 | c.*3601G>C (n.*3601G>C) c.12497G>C (p.Arg4166Thr) c.12530G>C (p.Arg4177Thr) c.4686G>C c.12509G>C (p.Arg4170Thr) c.2562G>C c.12461G>C (p.Arg4154Thr) n.3704G>C c.12563G>C (p.Arg4188Thr) c.12560G>C (p.Arg4187Thr) c.12539G>C (p.Arg4180Thr) c.12533G>C (p.Arg4178Thr) c.12527G>C (p.Arg4176Thr) c.12503G>C (p.Arg4168Thr) c.12326G>C (p.Arg4109Thr) c.12470G>C (p.Arg4157Thr) c.12542G>C (p.Arg4181Thr) | |
1 | g.237784221G>T | CA345413506 | RYR2 | c.*3601G>T (n.*3601G>T) c.12497G>T (p.Arg4166Ile) c.12530G>T (p.Arg4177Ile) c.4686G>T c.12509G>T (p.Arg4170Ile) c.2562G>T c.12461G>T (p.Arg4154Ile) n.3704G>T c.12563G>T (p.Arg4188Ile) c.12560G>T (p.Arg4187Ile) c.12539G>T (p.Arg4180Ile) c.12533G>T (p.Arg4178Ile) c.12527G>T (p.Arg4176Ile) c.12503G>T (p.Arg4168Ile) c.12326G>T (p.Arg4109Ile) c.12470G>T (p.Arg4157Ile) c.12542G>T (p.Arg4181Ile) | |
1 | g.237784222A= | CA2487482433 | RYR2 | c.*3602A= (n.*3602A=) c.12498A= (p.Arg4166=) c.12531A= (p.Arg4177=) c.4687A= c.12510A= (p.Arg4170=) c.2563A= c.12462A= (p.Arg4154=) n.3705A= c.12564A= (p.Arg4188=) c.12561A= (p.Arg4187=) c.12540A= (p.Arg4180=) c.12534A= (p.Arg4178=) c.12528A= (p.Arg4176=) c.12504A= (p.Arg4168=) c.12327A= (p.Arg4109=) c.12471A= (p.Arg4157=) c.12543A= (p.Arg4181=) | |
1 | g.237784222A>C | CA345413508 | RYR2 | c.*3602A>C (n.*3602A>C) c.12498A>C (p.Arg4166Ser) c.12531A>C (p.Arg4177Ser) c.4687A>C c.12510A>C (p.Arg4170Ser) c.2563A>C c.12462A>C (p.Arg4154Ser) n.3705A>C c.12564A>C (p.Arg4188Ser) c.12561A>C (p.Arg4187Ser) c.12540A>C (p.Arg4180Ser) c.12534A>C (p.Arg4178Ser) c.12528A>C (p.Arg4176Ser) c.12504A>C (p.Arg4168Ser) c.12327A>C (p.Arg4109Ser) c.12471A>C (p.Arg4157Ser) c.12543A>C (p.Arg4181Ser) | |
1 | g.237784222A>G | CA424032279 | RYR2 | c.*3602A>G (n.*3602A>G) c.12498A>G (p.Arg4166=) c.12531A>G (p.Arg4177=) c.4687A>G c.12510A>G (p.Arg4170=) c.2563A>G c.12462A>G (p.Arg4154=) n.3705A>G c.12564A>G (p.Arg4188=) c.12561A>G (p.Arg4187=) c.12540A>G (p.Arg4180=) c.12534A>G (p.Arg4178=) c.12528A>G (p.Arg4176=) c.12504A>G (p.Arg4168=) c.12327A>G (p.Arg4109=) c.12471A>G (p.Arg4157=) c.12543A>G (p.Arg4181=) | |
1 | g.237784222A>T | CA345413507 | RYR2 | c.*3602A>T (n.*3602A>T) c.12498A>T (p.Arg4166Ser) c.12531A>T (p.Arg4177Ser) c.4687A>T c.12510A>T (p.Arg4170Ser) c.2563A>T c.12462A>T (p.Arg4154Ser) n.3705A>T c.12564A>T (p.Arg4188Ser) c.12561A>T (p.Arg4187Ser) c.12540A>T (p.Arg4180Ser) c.12534A>T (p.Arg4178Ser) c.12528A>T (p.Arg4176Ser) c.12504A>T (p.Arg4168Ser) c.12327A>T (p.Arg4109Ser) c.12471A>T (p.Arg4157Ser) c.12543A>T (p.Arg4181Ser) | ClinVar dbSNP |
1 | g.237784223C>A | CA345413509 | RYR2 | c.*3603C>A (n.*3603C>A) c.12499C>A (p.Gln4167Lys) c.12532C>A (p.Gln4178Lys) c.4688C>A c.12511C>A (p.Gln4171Lys) c.2564C>A c.12463C>A (p.Gln4155Lys) n.3706C>A c.12565C>A (p.Gln4189Lys) c.12562C>A (p.Gln4188Lys) c.12541C>A (p.Gln4181Lys) c.12535C>A (p.Gln4179Lys) c.12529C>A (p.Gln4177Lys) c.12505C>A (p.Gln4169Lys) c.12328C>A (p.Gln4110Lys) c.12472C>A (p.Gln4158Lys) c.12544C>A (p.Gln4182Lys) | |
1 | g.237784223C>G | CA345413510 | RYR2 | c.*3603C>G (n.*3603C>G) c.12499C>G (p.Gln4167Glu) c.12532C>G (p.Gln4178Glu) c.4688C>G c.12511C>G (p.Gln4171Glu) c.2564C>G c.12463C>G (p.Gln4155Glu) n.3706C>G c.12565C>G (p.Gln4189Glu) c.12562C>G (p.Gln4188Glu) c.12541C>G (p.Gln4181Glu) c.12535C>G (p.Gln4179Glu) c.12529C>G (p.Gln4177Glu) c.12505C>G (p.Gln4169Glu) c.12328C>G (p.Gln4110Glu) c.12472C>G (p.Gln4158Glu) c.12544C>G (p.Gln4182Glu) | ClinVar |
1 | g.237784223C>T | CA345413511 | RYR2 | c.*3603C>T (n.*3603C>T) c.12499C>T (p.Gln4167Ter) c.12532C>T (p.Gln4178Ter) c.4688C>T c.12511C>T (p.Gln4171Ter) c.2564C>T c.12463C>T (p.Gln4155Ter) n.3706C>T c.12565C>T (p.Gln4189Ter) c.12562C>T (p.Gln4188Ter) c.12541C>T (p.Gln4181Ter) c.12535C>T (p.Gln4179Ter) c.12529C>T (p.Gln4177Ter) c.12505C>T (p.Gln4169Ter) c.12328C>T (p.Gln4110Ter) c.12472C>T (p.Gln4158Ter) c.12544C>T (p.Gln4182Ter) | |
1 | g.237784224A>C | CA345413512 | RYR2 | c.*3604A>C (n.*3604A>C) c.12500A>C (p.Gln4167Pro) c.12533A>C (p.Gln4178Pro) c.4689A>C c.12512A>C (p.Gln4171Pro) c.2565A>C c.12464A>C (p.Gln4155Pro) n.3707A>C c.12566A>C (p.Gln4189Pro) c.12563A>C (p.Gln4188Pro) c.12542A>C (p.Gln4181Pro) c.12536A>C (p.Gln4179Pro) c.12530A>C (p.Gln4177Pro) c.12506A>C (p.Gln4169Pro) c.12329A>C (p.Gln4110Pro) c.12473A>C (p.Gln4158Pro) c.12545A>C (p.Gln4182Pro) | |
1 | g.237784224A>G | CA345413513 | RYR2 | c.*3604A>G (n.*3604A>G) c.12500A>G (p.Gln4167Arg) c.12533A>G (p.Gln4178Arg) c.4689A>G c.12512A>G (p.Gln4171Arg) c.2565A>G c.12464A>G (p.Gln4155Arg) n.3707A>G c.12566A>G (p.Gln4189Arg) c.12563A>G (p.Gln4188Arg) c.12542A>G (p.Gln4181Arg) c.12536A>G (p.Gln4179Arg) c.12530A>G (p.Gln4177Arg) c.12506A>G (p.Gln4169Arg) c.12329A>G (p.Gln4110Arg) c.12473A>G (p.Gln4158Arg) c.12545A>G (p.Gln4182Arg) | |
1 | g.237784224A>T | CA345413514 | RYR2 | c.*3604A>T (n.*3604A>T) c.12500A>T (p.Gln4167Leu) c.12533A>T (p.Gln4178Leu) c.4689A>T c.12512A>T (p.Gln4171Leu) c.2565A>T c.12464A>T (p.Gln4155Leu) n.3707A>T c.12566A>T (p.Gln4189Leu) c.12563A>T (p.Gln4188Leu) c.12542A>T (p.Gln4181Leu) c.12536A>T (p.Gln4179Leu) c.12530A>T (p.Gln4177Leu) c.12506A>T (p.Gln4169Leu) c.12329A>T (p.Gln4110Leu) c.12473A>T (p.Gln4158Leu) c.12545A>T (p.Gln4182Leu) | |
1 | g.237784225G>A | CA424032280 | RYR2 | c.*3605G>A (n.*3605G>A) c.12501G>A (p.Gln4167=) c.12534G>A (p.Gln4178=) c.4690G>A c.12513G>A (p.Gln4171=) c.2566G>A c.12465G>A (p.Gln4155=) n.3708G>A c.12567G>A (p.Gln4189=) c.12564G>A (p.Gln4188=) c.12543G>A (p.Gln4181=) c.12537G>A (p.Gln4179=) c.12531G>A (p.Gln4177=) c.12507G>A (p.Gln4169=) c.12330G>A (p.Gln4110=) c.12474G>A (p.Gln4158=) c.12546G>A (p.Gln4182=) | |
1 | g.237784225G>C | CA345413515 | RYR2 | c.*3605G>C (n.*3605G>C) c.12501G>C (p.Gln4167His) c.12534G>C (p.Gln4178His) c.4690G>C c.12513G>C (p.Gln4171His) c.2566G>C c.12465G>C (p.Gln4155His) n.3708G>C c.12567G>C (p.Gln4189His) c.12564G>C (p.Gln4188His) c.12543G>C (p.Gln4181His) c.12537G>C (p.Gln4179His) c.12531G>C (p.Gln4177His) c.12507G>C (p.Gln4169His) c.12330G>C (p.Gln4110His) c.12474G>C (p.Gln4158His) c.12546G>C (p.Gln4182His) | |
1 | g.237784225G>T | CA345413516 | RYR2 | c.*3605G>T (n.*3605G>T) c.12501G>T (p.Gln4167His) c.12534G>T (p.Gln4178His) c.4690G>T c.12513G>T (p.Gln4171His) c.2566G>T c.12465G>T (p.Gln4155His) n.3708G>T c.12567G>T (p.Gln4189His) c.12564G>T (p.Gln4188His) c.12543G>T (p.Gln4181His) c.12537G>T (p.Gln4179His) c.12531G>T (p.Gln4177His) c.12507G>T (p.Gln4169His) c.12330G>T (p.Gln4110His) c.12474G>T (p.Gln4158His) c.12546G>T (p.Gln4182His) | |
1 | g.237784226T>A | CA345413517 | RYR2 | c.*3606T>A (n.*3606T>A) c.12502T>A (p.Phe4168Ile) c.12535T>A (p.Phe4179Ile) c.4691T>A c.12514T>A (p.Phe4172Ile) c.2567T>A c.12466T>A (p.Phe4156Ile) n.3709T>A c.12568T>A (p.Phe4190Ile) c.12565T>A (p.Phe4189Ile) c.12544T>A (p.Phe4182Ile) c.12538T>A (p.Phe4180Ile) c.12532T>A (p.Phe4178Ile) c.12508T>A (p.Phe4170Ile) c.12331T>A (p.Phe4111Ile) c.12475T>A (p.Phe4159Ile) c.12547T>A (p.Phe4183Ile) | |
1 | g.237784226T>C | CA345413518 | RYR2 | c.*3606T>C (n.*3606T>C) c.12502T>C (p.Phe4168Leu) c.12535T>C (p.Phe4179Leu) c.4691T>C c.12514T>C (p.Phe4172Leu) c.2567T>C c.12466T>C (p.Phe4156Leu) n.3709T>C c.12568T>C (p.Phe4190Leu) c.12565T>C (p.Phe4189Leu) c.12544T>C (p.Phe4182Leu) c.12538T>C (p.Phe4180Leu) c.12532T>C (p.Phe4178Leu) c.12508T>C (p.Phe4170Leu) c.12331T>C (p.Phe4111Leu) c.12475T>C (p.Phe4159Leu) c.12547T>C (p.Phe4183Leu) | |
1 | g.237784226T>G | CA345413519 | RYR2 | c.*3606T>G (n.*3606T>G) c.12502T>G (p.Phe4168Val) c.12535T>G (p.Phe4179Val) c.4691T>G c.12514T>G (p.Phe4172Val) c.2567T>G c.12466T>G (p.Phe4156Val) n.3709T>G c.12568T>G (p.Phe4190Val) c.12565T>G (p.Phe4189Val) c.12544T>G (p.Phe4182Val) c.12538T>G (p.Phe4180Val) c.12532T>G (p.Phe4178Val) c.12508T>G (p.Phe4170Val) c.12331T>G (p.Phe4111Val) c.12475T>G (p.Phe4159Val) c.12547T>G (p.Phe4183Val) | |
1 | g.237784227T>A | CA345413520 | RYR2 | c.*3607T>A (n.*3607T>A) c.12503T>A (p.Phe4168Tyr) c.12536T>A (p.Phe4179Tyr) c.4692T>A c.12515T>A (p.Phe4172Tyr) c.2568T>A c.12467T>A (p.Phe4156Tyr) n.3710T>A c.12569T>A (p.Phe4190Tyr) c.12566T>A (p.Phe4189Tyr) c.12545T>A (p.Phe4182Tyr) c.12539T>A (p.Phe4180Tyr) c.12533T>A (p.Phe4178Tyr) c.12509T>A (p.Phe4170Tyr) c.12332T>A (p.Phe4111Tyr) c.12476T>A (p.Phe4159Tyr) c.12548T>A (p.Phe4183Tyr) | |
1 | g.237784227T>C | CA345413521 | RYR2 | c.*3607T>C (n.*3607T>C) c.12503T>C (p.Phe4168Ser) c.12536T>C (p.Phe4179Ser) c.4692T>C c.12515T>C (p.Phe4172Ser) c.2568T>C c.12467T>C (p.Phe4156Ser) n.3710T>C c.12569T>C (p.Phe4190Ser) c.12566T>C (p.Phe4189Ser) c.12545T>C (p.Phe4182Ser) c.12539T>C (p.Phe4180Ser) c.12533T>C (p.Phe4178Ser) c.12509T>C (p.Phe4170Ser) c.12332T>C (p.Phe4111Ser) c.12476T>C (p.Phe4159Ser) c.12548T>C (p.Phe4183Ser) | |
1 | g.237784227T>G | CA345413522 | RYR2 | c.*3607T>G (n.*3607T>G) c.12503T>G (p.Phe4168Cys) c.12536T>G (p.Phe4179Cys) c.4692T>G c.12515T>G (p.Phe4172Cys) c.2568T>G c.12467T>G (p.Phe4156Cys) n.3710T>G c.12569T>G (p.Phe4190Cys) c.12566T>G (p.Phe4189Cys) c.12545T>G (p.Phe4182Cys) c.12539T>G (p.Phe4180Cys) c.12533T>G (p.Phe4178Cys) c.12509T>G (p.Phe4170Cys) c.12332T>G (p.Phe4111Cys) c.12476T>G (p.Phe4159Cys) c.12548T>G (p.Phe4183Cys) | |
1 | g.237784228C>A | CA345413523 | RYR2 | c.*3608C>A (n.*3608C>A) c.12504C>A (p.Phe4168Leu) c.12537C>A (p.Phe4179Leu) c.4693C>A c.12516C>A (p.Phe4172Leu) c.2569C>A c.12468C>A (p.Phe4156Leu) n.3711C>A c.12570C>A (p.Phe4190Leu) c.12567C>A (p.Phe4189Leu) c.12546C>A (p.Phe4182Leu) c.12540C>A (p.Phe4180Leu) c.12534C>A (p.Phe4178Leu) c.12510C>A (p.Phe4170Leu) c.12333C>A (p.Phe4111Leu) c.12477C>A (p.Phe4159Leu) c.12549C>A (p.Phe4183Leu) | |
1 | g.237784228C>G | CA345413524 | RYR2 | c.*3608C>G (n.*3608C>G) c.12504C>G (p.Phe4168Leu) c.12537C>G (p.Phe4179Leu) c.4693C>G c.12516C>G (p.Phe4172Leu) c.2569C>G c.12468C>G (p.Phe4156Leu) n.3711C>G c.12570C>G (p.Phe4190Leu) c.12567C>G (p.Phe4189Leu) c.12546C>G (p.Phe4182Leu) c.12540C>G (p.Phe4180Leu) c.12534C>G (p.Phe4178Leu) c.12510C>G (p.Phe4170Leu) c.12333C>G (p.Phe4111Leu) c.12477C>G (p.Phe4159Leu) c.12549C>G (p.Phe4183Leu) | |
1 | g.237784228C>T | CA424032283 | RYR2 | c.*3608C>T (n.*3608C>T) c.12504C>T (p.Phe4168=) c.12537C>T (p.Phe4179=) c.4693C>T c.12516C>T (p.Phe4172=) c.2569C>T c.12468C>T (p.Phe4156=) n.3711C>T c.12570C>T (p.Phe4190=) c.12567C>T (p.Phe4189=) c.12546C>T (p.Phe4182=) c.12540C>T (p.Phe4180=) c.12534C>T (p.Phe4178=) c.12510C>T (p.Phe4170=) c.12333C>T (p.Phe4111=) c.12477C>T (p.Phe4159=) c.12549C>T (p.Phe4183=) | COSMIC COSMIC |
1 | g.237784229A>C | CA345413527 | RYR2 | c.*3609A>C (n.*3609A>C) c.12505A>C (p.Ile4169Leu) c.12538A>C (p.Ile4180Leu) c.4694A>C c.12517A>C (p.Ile4173Leu) c.2570A>C c.12469A>C (p.Ile4157Leu) n.3712A>C c.12571A>C (p.Ile4191Leu) c.12568A>C (p.Ile4190Leu) c.12547A>C (p.Ile4183Leu) c.12541A>C (p.Ile4181Leu) c.12535A>C (p.Ile4179Leu) c.12511A>C (p.Ile4171Leu) c.12334A>C (p.Ile4112Leu) c.12478A>C (p.Ile4160Leu) c.12550A>C (p.Ile4184Leu) | |
1 | g.237784229A>G | CA345413529 | RYR2 | c.*3609A>G (n.*3609A>G) c.12505A>G (p.Ile4169Val) c.12538A>G (p.Ile4180Val) c.4694A>G c.12517A>G (p.Ile4173Val) c.2570A>G c.12469A>G (p.Ile4157Val) n.3712A>G c.12571A>G (p.Ile4191Val) c.12568A>G (p.Ile4190Val) c.12547A>G (p.Ile4183Val) c.12541A>G (p.Ile4181Val) c.12535A>G (p.Ile4179Val) c.12511A>G (p.Ile4171Val) c.12334A>G (p.Ile4112Val) c.12478A>G (p.Ile4160Val) c.12550A>G (p.Ile4184Val) | |
1 | g.237784229A>T | CA345413530 | RYR2 | c.*3609A>T (n.*3609A>T) c.12505A>T (p.Ile4169Leu) c.12538A>T (p.Ile4180Leu) c.4694A>T c.12517A>T (p.Ile4173Leu) c.2570A>T c.12469A>T (p.Ile4157Leu) n.3712A>T c.12571A>T (p.Ile4191Leu) c.12568A>T (p.Ile4190Leu) c.12547A>T (p.Ile4183Leu) c.12541A>T (p.Ile4181Leu) c.12535A>T (p.Ile4179Leu) c.12511A>T (p.Ile4171Leu) c.12334A>T (p.Ile4112Leu) c.12478A>T (p.Ile4160Leu) c.12550A>T (p.Ile4184Leu) | |
1 | g.237784230T>A | CA345413531 | RYR2 | c.*3610T>A (n.*3610T>A) c.12506T>A (p.Ile4169Lys) c.12539T>A (p.Ile4180Lys) c.4695T>A c.12518T>A (p.Ile4173Lys) c.2571T>A c.12470T>A (p.Ile4157Lys) n.3713T>A c.12572T>A (p.Ile4191Lys) c.12569T>A (p.Ile4190Lys) c.12548T>A (p.Ile4183Lys) c.12542T>A (p.Ile4181Lys) c.12536T>A (p.Ile4179Lys) c.12512T>A (p.Ile4171Lys) c.12335T>A (p.Ile4112Lys) c.12479T>A (p.Ile4160Lys) c.12551T>A (p.Ile4184Lys) | |
1 | g.237784230T>C | CA345413532 | RYR2 | c.*3610T>C (n.*3610T>C) c.12506T>C (p.Ile4169Thr) c.12539T>C (p.Ile4180Thr) c.4695T>C c.12518T>C (p.Ile4173Thr) c.2571T>C c.12470T>C (p.Ile4157Thr) n.3713T>C c.12572T>C (p.Ile4191Thr) c.12569T>C (p.Ile4190Thr) c.12548T>C (p.Ile4183Thr) c.12542T>C (p.Ile4181Thr) c.12536T>C (p.Ile4179Thr) c.12512T>C (p.Ile4171Thr) c.12335T>C (p.Ile4112Thr) c.12479T>C (p.Ile4160Thr) c.12551T>C (p.Ile4184Thr) | |
1 | g.237784230T>G | CA345413533 | RYR2 | c.*3610T>G (n.*3610T>G) c.12506T>G (p.Ile4169Arg) c.12539T>G (p.Ile4180Arg) c.4695T>G c.12518T>G (p.Ile4173Arg) c.2571T>G c.12470T>G (p.Ile4157Arg) n.3713T>G c.12572T>G (p.Ile4191Arg) c.12569T>G (p.Ile4190Arg) c.12548T>G (p.Ile4183Arg) c.12542T>G (p.Ile4181Arg) c.12536T>G (p.Ile4179Arg) c.12512T>G (p.Ile4171Arg) c.12335T>G (p.Ile4112Arg) c.12479T>G (p.Ile4160Arg) c.12551T>G (p.Ile4184Arg) | dbSNP |
1 | g.237784230T= | CA2487482434 | RYR2 | c.*3610T= (n.*3610T=) c.12506T= (p.Ile4169=) c.12539T= (p.Ile4180=) c.4695T= c.12518T= (p.Ile4173=) c.2571T= c.12470T= (p.Ile4157=) n.3713T= c.12572T= (p.Ile4191=) c.12569T= (p.Ile4190=) c.12548T= (p.Ile4183=) c.12542T= (p.Ile4181=) c.12536T= (p.Ile4179=) c.12512T= (p.Ile4171=) c.12335T= (p.Ile4112=) c.12479T= (p.Ile4160=) c.12551T= (p.Ile4184=) | |
1 | g.237784231A= | CA2487482435 | RYR2 | c.*3611A= (n.*3611A=) c.12507A= (p.Ile4169=) c.12540A= (p.Ile4180=) c.4696A= c.12519A= (p.Ile4173=) c.2572A= c.12471A= (p.Ile4157=) n.3714A= c.12573A= (p.Ile4191=) c.12570A= (p.Ile4190=) c.12549A= (p.Ile4183=) c.12543A= (p.Ile4181=) c.12537A= (p.Ile4179=) c.12513A= (p.Ile4171=) c.12336A= (p.Ile4112=) c.12480A= (p.Ile4160=) c.12552A= (p.Ile4184=) | |
1 | g.237784231A>C | CA424032284 | RYR2 | c.*3611A>C (n.*3611A>C) c.12507A>C (p.Ile4169=) c.12540A>C (p.Ile4180=) c.4696A>C c.12519A>C (p.Ile4173=) c.2572A>C c.12471A>C (p.Ile4157=) n.3714A>C c.12573A>C (p.Ile4191=) c.12570A>C (p.Ile4190=) c.12549A>C (p.Ile4183=) c.12543A>C (p.Ile4181=) c.12537A>C (p.Ile4179=) c.12513A>C (p.Ile4171=) c.12336A>C (p.Ile4112=) c.12480A>C (p.Ile4160=) c.12552A>C (p.Ile4184=) | |
1 | g.237784231A>G | CA345413534 | RYR2 | c.*3611A>G (n.*3611A>G) c.12507A>G (p.Ile4169Met) c.12540A>G (p.Ile4180Met) c.4696A>G c.12519A>G (p.Ile4173Met) c.2572A>G c.12471A>G (p.Ile4157Met) n.3714A>G c.12573A>G (p.Ile4191Met) c.12570A>G (p.Ile4190Met) c.12549A>G (p.Ile4183Met) c.12543A>G (p.Ile4181Met) c.12537A>G (p.Ile4179Met) c.12513A>G (p.Ile4171Met) c.12336A>G (p.Ile4112Met) c.12480A>G (p.Ile4160Met) c.12552A>G (p.Ile4184Met) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784231A>T | CA424032285 | RYR2 | c.*3611A>T (n.*3611A>T) c.12507A>T (p.Ile4169=) c.12540A>T (p.Ile4180=) c.4696A>T c.12519A>T (p.Ile4173=) c.2572A>T c.12471A>T (p.Ile4157=) n.3714A>T c.12573A>T (p.Ile4191=) c.12570A>T (p.Ile4190=) c.12549A>T (p.Ile4183=) c.12543A>T (p.Ile4181=) c.12537A>T (p.Ile4179=) c.12513A>T (p.Ile4171=) c.12336A>T (p.Ile4112=) c.12480A>T (p.Ile4160=) c.12552A>T (p.Ile4184=) | |
1 | g.237784232T>A | CA345413535 | RYR2 | c.*3612T>A (n.*3612T>A) c.12508T>A (p.Phe4170Ile) c.12541T>A (p.Phe4181Ile) c.4697T>A c.12520T>A (p.Phe4174Ile) c.2573T>A c.12472T>A (p.Phe4158Ile) n.3715T>A c.12574T>A (p.Phe4192Ile) c.12571T>A (p.Phe4191Ile) c.12550T>A (p.Phe4184Ile) c.12544T>A (p.Phe4182Ile) c.12538T>A (p.Phe4180Ile) c.12514T>A (p.Phe4172Ile) c.12337T>A (p.Phe4113Ile) c.12481T>A (p.Phe4161Ile) c.12553T>A (p.Phe4185Ile) | |
1 | g.237784232T>C | CA345413536 | RYR2 | c.*3612T>C (n.*3612T>C) c.12508T>C (p.Phe4170Leu) c.12541T>C (p.Phe4181Leu) c.4697T>C c.12520T>C (p.Phe4174Leu) c.2573T>C c.12472T>C (p.Phe4158Leu) n.3715T>C c.12574T>C (p.Phe4192Leu) c.12571T>C (p.Phe4191Leu) c.12550T>C (p.Phe4184Leu) c.12544T>C (p.Phe4182Leu) c.12538T>C (p.Phe4180Leu) c.12514T>C (p.Phe4172Leu) c.12337T>C (p.Phe4113Leu) c.12481T>C (p.Phe4161Leu) c.12553T>C (p.Phe4185Leu) | |
1 | g.237784232T>G | CA345413537 | RYR2 | c.*3612T>G (n.*3612T>G) c.12508T>G (p.Phe4170Val) c.12541T>G (p.Phe4181Val) c.4697T>G c.12520T>G (p.Phe4174Val) c.2573T>G c.12472T>G (p.Phe4158Val) n.3715T>G c.12574T>G (p.Phe4192Val) c.12571T>G (p.Phe4191Val) c.12550T>G (p.Phe4184Val) c.12544T>G (p.Phe4182Val) c.12538T>G (p.Phe4180Val) c.12514T>G (p.Phe4172Val) c.12337T>G (p.Phe4113Val) c.12481T>G (p.Phe4161Val) c.12553T>G (p.Phe4185Val) | |
1 | g.237784233T>A | CA345413538 | RYR2 | c.*3613T>A (n.*3613T>A) c.12509T>A (p.Phe4170Tyr) c.12542T>A (p.Phe4181Tyr) c.4698T>A c.12521T>A (p.Phe4174Tyr) c.2574T>A c.12473T>A (p.Phe4158Tyr) n.3716T>A c.12575T>A (p.Phe4192Tyr) c.12572T>A (p.Phe4191Tyr) c.12551T>A (p.Phe4184Tyr) c.12545T>A (p.Phe4182Tyr) c.12539T>A (p.Phe4180Tyr) c.12515T>A (p.Phe4172Tyr) c.12338T>A (p.Phe4113Tyr) c.12482T>A (p.Phe4161Tyr) c.12554T>A (p.Phe4185Tyr) | ClinVar |
1 | g.237784233T>C | CA345413539 | RYR2 | c.*3613T>C (n.*3613T>C) c.12509T>C (p.Phe4170Ser) c.12542T>C (p.Phe4181Ser) c.4698T>C c.12521T>C (p.Phe4174Ser) c.2574T>C c.12473T>C (p.Phe4158Ser) n.3716T>C c.12575T>C (p.Phe4192Ser) c.12572T>C (p.Phe4191Ser) c.12551T>C (p.Phe4184Ser) c.12545T>C (p.Phe4182Ser) c.12539T>C (p.Phe4180Ser) c.12515T>C (p.Phe4172Ser) c.12338T>C (p.Phe4113Ser) c.12482T>C (p.Phe4161Ser) c.12554T>C (p.Phe4185Ser) | |
1 | g.237784233T>G | CA345413540 | RYR2 | c.*3613T>G (n.*3613T>G) c.12509T>G (p.Phe4170Cys) c.12542T>G (p.Phe4181Cys) c.4698T>G c.12521T>G (p.Phe4174Cys) c.2574T>G c.12473T>G (p.Phe4158Cys) n.3716T>G c.12575T>G (p.Phe4192Cys) c.12572T>G (p.Phe4191Cys) c.12551T>G (p.Phe4184Cys) c.12545T>G (p.Phe4182Cys) c.12539T>G (p.Phe4180Cys) c.12515T>G (p.Phe4172Cys) c.12338T>G (p.Phe4113Cys) c.12482T>G (p.Phe4161Cys) c.12554T>G (p.Phe4185Cys) | ClinVar |
1 | g.237784234T>A | CA345413541 | RYR2 | c.*3614T>A (n.*3614T>A) c.12510T>A (p.Phe4170Leu) c.12543T>A (p.Phe4181Leu) c.4699T>A c.12522T>A (p.Phe4174Leu) c.2575T>A c.12474T>A (p.Phe4158Leu) n.3717T>A c.12576T>A (p.Phe4192Leu) c.12573T>A (p.Phe4191Leu) c.12552T>A (p.Phe4184Leu) c.12546T>A (p.Phe4182Leu) c.12540T>A (p.Phe4180Leu) c.12516T>A (p.Phe4172Leu) c.12339T>A (p.Phe4113Leu) c.12483T>A (p.Phe4161Leu) c.12555T>A (p.Phe4185Leu) | |
1 | g.237784234T>C | CA424032289 | RYR2 | c.*3614T>C (n.*3614T>C) c.12510T>C (p.Phe4170=) c.12543T>C (p.Phe4181=) c.4699T>C c.12522T>C (p.Phe4174=) c.2575T>C c.12474T>C (p.Phe4158=) n.3717T>C c.12576T>C (p.Phe4192=) c.12573T>C (p.Phe4191=) c.12552T>C (p.Phe4184=) c.12546T>C (p.Phe4182=) c.12540T>C (p.Phe4180=) c.12516T>C (p.Phe4172=) c.12339T>C (p.Phe4113=) c.12483T>C (p.Phe4161=) c.12555T>C (p.Phe4185=) | |
1 | g.237784234T>G | CA345413542 | RYR2 | c.*3614T>G (n.*3614T>G) c.12510T>G (p.Phe4170Leu) c.12543T>G (p.Phe4181Leu) c.4699T>G c.12522T>G (p.Phe4174Leu) c.2575T>G c.12474T>G (p.Phe4158Leu) n.3717T>G c.12576T>G (p.Phe4192Leu) c.12573T>G (p.Phe4191Leu) c.12552T>G (p.Phe4184Leu) c.12546T>G (p.Phe4182Leu) c.12540T>G (p.Phe4180Leu) c.12516T>G (p.Phe4172Leu) c.12339T>G (p.Phe4113Leu) c.12483T>G (p.Phe4161Leu) c.12555T>G (p.Phe4185Leu) | |
1 | g.237784235G>A | CA345413543 | RYR2 | c.*3615G>A (n.*3615G>A) c.12511G>A (p.Asp4171Asn) c.12544G>A (p.Asp4182Asn) c.4700G>A c.12523G>A (p.Asp4175Asn) c.2576G>A c.12475G>A (p.Asp4159Asn) n.3718G>A c.12577G>A (p.Asp4193Asn) c.12574G>A (p.Asp4192Asn) c.12553G>A (p.Asp4185Asn) c.12547G>A (p.Asp4183Asn) c.12541G>A (p.Asp4181Asn) c.12517G>A (p.Asp4173Asn) c.12340G>A (p.Asp4114Asn) c.12484G>A (p.Asp4162Asn) c.12556G>A (p.Asp4186Asn) | |
1 | g.237784235G>C | CA345413545 | RYR2 | c.*3615G>C (n.*3615G>C) c.12511G>C (p.Asp4171His) c.12544G>C (p.Asp4182His) c.4700G>C c.12523G>C (p.Asp4175His) c.2576G>C c.12475G>C (p.Asp4159His) n.3718G>C c.12577G>C (p.Asp4193His) c.12574G>C (p.Asp4192His) c.12553G>C (p.Asp4185His) c.12547G>C (p.Asp4183His) c.12541G>C (p.Asp4181His) c.12517G>C (p.Asp4173His) c.12340G>C (p.Asp4114His) c.12484G>C (p.Asp4162His) c.12556G>C (p.Asp4186His) | |
1 | g.237784235G>T | CA345413544 | RYR2 | c.*3615G>T (n.*3615G>T) c.12511G>T (p.Asp4171Tyr) c.12544G>T (p.Asp4182Tyr) c.4700G>T c.12523G>T (p.Asp4175Tyr) c.2576G>T c.12475G>T (p.Asp4159Tyr) n.3718G>T c.12577G>T (p.Asp4193Tyr) c.12574G>T (p.Asp4192Tyr) c.12553G>T (p.Asp4185Tyr) c.12547G>T (p.Asp4183Tyr) c.12541G>T (p.Asp4181Tyr) c.12517G>T (p.Asp4173Tyr) c.12340G>T (p.Asp4114Tyr) c.12484G>T (p.Asp4162Tyr) c.12556G>T (p.Asp4186Tyr) | |
1 | g.237784236A>C | CA345413546 | RYR2 | c.*3616A>C (n.*3616A>C) c.12512A>C (p.Asp4171Ala) c.12545A>C (p.Asp4182Ala) c.4701A>C c.12524A>C (p.Asp4175Ala) c.2577A>C c.12476A>C (p.Asp4159Ala) n.3719A>C c.12578A>C (p.Asp4193Ala) c.12575A>C (p.Asp4192Ala) c.12554A>C (p.Asp4185Ala) c.12548A>C (p.Asp4183Ala) c.12542A>C (p.Asp4181Ala) c.12518A>C (p.Asp4173Ala) c.12341A>C (p.Asp4114Ala) c.12485A>C (p.Asp4162Ala) c.12557A>C (p.Asp4186Ala) | |
1 | g.237784236A>G | CA345413548 | RYR2 | c.*3616A>G (n.*3616A>G) c.12512A>G (p.Asp4171Gly) c.12545A>G (p.Asp4182Gly) c.4701A>G c.12524A>G (p.Asp4175Gly) c.2577A>G c.12476A>G (p.Asp4159Gly) n.3719A>G c.12578A>G (p.Asp4193Gly) c.12575A>G (p.Asp4192Gly) c.12554A>G (p.Asp4185Gly) c.12548A>G (p.Asp4183Gly) c.12542A>G (p.Asp4181Gly) c.12518A>G (p.Asp4173Gly) c.12341A>G (p.Asp4114Gly) c.12485A>G (p.Asp4162Gly) c.12557A>G (p.Asp4186Gly) | |
1 | g.237784236A>T | CA345413547 | RYR2 | c.*3616A>T (n.*3616A>T) c.12512A>T (p.Asp4171Val) c.12545A>T (p.Asp4182Val) c.4701A>T c.12524A>T (p.Asp4175Val) c.2577A>T c.12476A>T (p.Asp4159Val) n.3719A>T c.12578A>T (p.Asp4193Val) c.12575A>T (p.Asp4192Val) c.12554A>T (p.Asp4185Val) c.12548A>T (p.Asp4183Val) c.12542A>T (p.Asp4181Val) c.12518A>T (p.Asp4173Val) c.12341A>T (p.Asp4114Val) c.12485A>T (p.Asp4162Val) c.12557A>T (p.Asp4186Val) | |
1 | g.237784237C>A | CA345413549 | RYR2 | c.*3617C>A (n.*3617C>A) c.12513C>A (p.Asp4171Glu) c.12546C>A (p.Asp4182Glu) c.4702C>A c.12525C>A (p.Asp4175Glu) c.2578C>A c.12477C>A (p.Asp4159Glu) n.3720C>A c.12579C>A (p.Asp4193Glu) c.12576C>A (p.Asp4192Glu) c.12555C>A (p.Asp4185Glu) c.12549C>A (p.Asp4183Glu) c.12543C>A (p.Asp4181Glu) c.12519C>A (p.Asp4173Glu) c.12342C>A (p.Asp4114Glu) c.12486C>A (p.Asp4162Glu) c.12558C>A (p.Asp4186Glu) | ClinVar dbSNP |
1 | g.237784237C= | CA2487482436 | RYR2 | c.*3617C= (n.*3617C=) c.12513C= (p.Asp4171=) c.12546C= (p.Asp4182=) c.4702C= c.12525C= (p.Asp4175=) c.2578C= c.12477C= (p.Asp4159=) n.3720C= c.12579C= (p.Asp4193=) c.12576C= (p.Asp4192=) c.12555C= (p.Asp4185=) c.12549C= (p.Asp4183=) c.12543C= (p.Asp4181=) c.12519C= (p.Asp4173=) c.12342C= (p.Asp4114=) c.12486C= (p.Asp4162=) c.12558C= (p.Asp4186=) | |
1 | g.237784237C>G | CA345413550 | RYR2 | c.*3617C>G (n.*3617C>G) c.12513C>G (p.Asp4171Glu) c.12546C>G (p.Asp4182Glu) c.4702C>G c.12525C>G (p.Asp4175Glu) c.2578C>G c.12477C>G (p.Asp4159Glu) n.3720C>G c.12579C>G (p.Asp4193Glu) c.12576C>G (p.Asp4192Glu) c.12555C>G (p.Asp4185Glu) c.12549C>G (p.Asp4183Glu) c.12543C>G (p.Asp4181Glu) c.12519C>G (p.Asp4173Glu) c.12342C>G (p.Asp4114Glu) c.12486C>G (p.Asp4162Glu) c.12558C>G (p.Asp4186Glu) | |
1 | g.237784237C>T | CA424032290 | RYR2 | c.*3617C>T (n.*3617C>T) c.12513C>T (p.Asp4171=) c.12546C>T (p.Asp4182=) c.4702C>T c.12525C>T (p.Asp4175=) c.2578C>T c.12477C>T (p.Asp4159=) n.3720C>T c.12579C>T (p.Asp4193=) c.12576C>T (p.Asp4192=) c.12555C>T (p.Asp4185=) c.12549C>T (p.Asp4183=) c.12543C>T (p.Asp4181=) c.12519C>T (p.Asp4173=) c.12342C>T (p.Asp4114=) c.12486C>T (p.Asp4162=) c.12558C>T (p.Asp4186=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784238G>A | CA007563 | RYR2 | c.*3618G>A (n.*3618G>A) c.12514G>A (p.Val4172Met) c.12547G>A (p.Val4183Met) c.4703G>A c.12526G>A (p.Val4176Met) c.2579G>A c.12478G>A (p.Val4160Met) n.3721G>A c.12580G>A (p.Val4194Met) c.12577G>A (p.Val4193Met) c.12556G>A (p.Val4186Met) c.12550G>A (p.Val4184Met) c.12544G>A (p.Val4182Met) c.12520G>A (p.Val4174Met) c.12343G>A (p.Val4115Met) c.12487G>A (p.Val4163Met) c.12559G>A (p.Val4187Met) | ClinVar dbSNP gnomAD v4 |
1 | g.237784238G>C | CA345413551 | RYR2 | c.*3618G>C (n.*3618G>C) c.12514G>C (p.Val4172Leu) c.12547G>C (p.Val4183Leu) c.4703G>C c.12526G>C (p.Val4176Leu) c.2579G>C c.12478G>C (p.Val4160Leu) n.3721G>C c.12580G>C (p.Val4194Leu) c.12577G>C (p.Val4193Leu) c.12556G>C (p.Val4186Leu) c.12550G>C (p.Val4184Leu) c.12544G>C (p.Val4182Leu) c.12520G>C (p.Val4174Leu) c.12343G>C (p.Val4115Leu) c.12487G>C (p.Val4163Leu) c.12559G>C (p.Val4187Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784238G= | CA2487482437 | RYR2 | c.*3618G= (n.*3618G=) c.12514G= (p.Val4172=) c.12547G= (p.Val4183=) c.4703G= c.12526G= (p.Val4176=) c.2579G= c.12478G= (p.Val4160=) n.3721G= c.12580G= (p.Val4194=) c.12577G= (p.Val4193=) c.12556G= (p.Val4186=) c.12550G= (p.Val4184=) c.12544G= (p.Val4182=) c.12520G= (p.Val4174=) c.12343G= (p.Val4115=) c.12487G= (p.Val4163=) c.12559G= (p.Val4187=) | |
1 | g.237784238G>T | CA345413552 | RYR2 | c.*3618G>T (n.*3618G>T) c.12514G>T (p.Val4172Leu) c.12547G>T (p.Val4183Leu) c.4703G>T c.12526G>T (p.Val4176Leu) c.2579G>T c.12478G>T (p.Val4160Leu) n.3721G>T c.12580G>T (p.Val4194Leu) c.12577G>T (p.Val4193Leu) c.12556G>T (p.Val4186Leu) c.12550G>T (p.Val4184Leu) c.12544G>T (p.Val4182Leu) c.12520G>T (p.Val4174Leu) c.12343G>T (p.Val4115Leu) c.12487G>T (p.Val4163Leu) c.12559G>T (p.Val4187Leu) | |
1 | g.237784239T>A | CA345413553 | RYR2 | c.*3619T>A (n.*3619T>A) c.12515T>A (p.Val4172Glu) c.12548T>A (p.Val4183Glu) c.4704T>A c.12527T>A (p.Val4176Glu) c.2580T>A c.12479T>A (p.Val4160Glu) n.3722T>A c.12581T>A (p.Val4194Glu) c.12578T>A (p.Val4193Glu) c.12557T>A (p.Val4186Glu) c.12551T>A (p.Val4184Glu) c.12545T>A (p.Val4182Glu) c.12521T>A (p.Val4174Glu) c.12344T>A (p.Val4115Glu) c.12488T>A (p.Val4163Glu) c.12560T>A (p.Val4187Glu) | |
1 | g.237784239T>C | CA345413554 | RYR2 | c.*3619T>C (n.*3619T>C) c.12515T>C (p.Val4172Ala) c.12548T>C (p.Val4183Ala) c.4704T>C c.12527T>C (p.Val4176Ala) c.2580T>C c.12479T>C (p.Val4160Ala) n.3722T>C c.12581T>C (p.Val4194Ala) c.12578T>C (p.Val4193Ala) c.12557T>C (p.Val4186Ala) c.12551T>C (p.Val4184Ala) c.12545T>C (p.Val4182Ala) c.12521T>C (p.Val4174Ala) c.12344T>C (p.Val4115Ala) c.12488T>C (p.Val4163Ala) c.12560T>C (p.Val4187Ala) | COSMIC COSMIC |
1 | g.237784239T>G | CA345413555 | RYR2 | c.*3619T>G (n.*3619T>G) c.12515T>G (p.Val4172Gly) c.12548T>G (p.Val4183Gly) c.4704T>G c.12527T>G (p.Val4176Gly) c.2580T>G c.12479T>G (p.Val4160Gly) n.3722T>G c.12581T>G (p.Val4194Gly) c.12578T>G (p.Val4193Gly) c.12557T>G (p.Val4186Gly) c.12551T>G (p.Val4184Gly) c.12545T>G (p.Val4182Gly) c.12521T>G (p.Val4174Gly) c.12344T>G (p.Val4115Gly) c.12488T>G (p.Val4163Gly) c.12560T>G (p.Val4187Gly) | |
1 | g.237784240G>A | CA066489 | RYR2 | c.*3620G>A (n.*3620G>A) c.12516G>A (p.Val4172=) c.12549G>A (p.Val4183=) c.4705G>A c.12528G>A (p.Val4176=) c.2581G>A c.12480G>A (p.Val4160=) n.3723G>A c.12582G>A (p.Val4194=) c.12579G>A (p.Val4193=) c.12558G>A (p.Val4186=) c.12552G>A (p.Val4184=) c.12546G>A (p.Val4182=) c.12522G>A (p.Val4174=) c.12345G>A (p.Val4115=) c.12489G>A (p.Val4163=) c.12561G>A (p.Val4187=) | |
1 | g.237784240G>C | CA424032295 | RYR2 | c.*3620G>C (n.*3620G>C) c.12516G>C (p.Val4172=) c.12549G>C (p.Val4183=) c.4705G>C c.12528G>C (p.Val4176=) c.2581G>C c.12480G>C (p.Val4160=) n.3723G>C c.12582G>C (p.Val4194=) c.12579G>C (p.Val4193=) c.12558G>C (p.Val4186=) c.12552G>C (p.Val4184=) c.12546G>C (p.Val4182=) c.12522G>C (p.Val4174=) c.12345G>C (p.Val4115=) c.12489G>C (p.Val4163=) c.12561G>C (p.Val4187=) | |
1 | g.237784240G>T | CA424032294 | RYR2 | c.*3620G>T (n.*3620G>T) c.12516G>T (p.Val4172=) c.12549G>T (p.Val4183=) c.4705G>T c.12528G>T (p.Val4176=) c.2581G>T c.12480G>T (p.Val4160=) n.3723G>T c.12582G>T (p.Val4194=) c.12579G>T (p.Val4193=) c.12558G>T (p.Val4186=) c.12552G>T (p.Val4184=) c.12546G>T (p.Val4182=) c.12522G>T (p.Val4174=) c.12345G>T (p.Val4115=) c.12489G>T (p.Val4163=) c.12561G>T (p.Val4187=) | |
1 | g.237784241G>A | CA345413556 | RYR2 | c.*3621G>A (n.*3621G>A) c.12517G>A (p.Val4173Ile) c.12550G>A (p.Val4184Ile) c.4706G>A c.12529G>A (p.Val4177Ile) c.2582G>A c.12481G>A (p.Val4161Ile) n.3724G>A c.12583G>A (p.Val4195Ile) c.12580G>A (p.Val4194Ile) c.12559G>A (p.Val4187Ile) c.12553G>A (p.Val4185Ile) c.12547G>A (p.Val4183Ile) c.12523G>A (p.Val4175Ile) c.12346G>A (p.Val4116Ile) c.12490G>A (p.Val4164Ile) c.12562G>A (p.Val4188Ile) | COSMIC COSMIC |
1 | g.237784241G>C | CA345413557 | RYR2 | c.*3621G>C (n.*3621G>C) c.12517G>C (p.Val4173Leu) c.12550G>C (p.Val4184Leu) c.4706G>C c.12529G>C (p.Val4177Leu) c.2582G>C c.12481G>C (p.Val4161Leu) n.3724G>C c.12583G>C (p.Val4195Leu) c.12580G>C (p.Val4194Leu) c.12559G>C (p.Val4187Leu) c.12553G>C (p.Val4185Leu) c.12547G>C (p.Val4183Leu) c.12523G>C (p.Val4175Leu) c.12346G>C (p.Val4116Leu) c.12490G>C (p.Val4164Leu) c.12562G>C (p.Val4188Leu) | |
1 | g.237784241G>T | CA345413558 | RYR2 | c.*3621G>T (n.*3621G>T) c.12517G>T (p.Val4173Phe) c.12550G>T (p.Val4184Phe) c.4706G>T c.12529G>T (p.Val4177Phe) c.2582G>T c.12481G>T (p.Val4161Phe) n.3724G>T c.12583G>T (p.Val4195Phe) c.12580G>T (p.Val4194Phe) c.12559G>T (p.Val4187Phe) c.12553G>T (p.Val4185Phe) c.12547G>T (p.Val4183Phe) c.12523G>T (p.Val4175Phe) c.12346G>T (p.Val4116Phe) c.12490G>T (p.Val4164Phe) c.12562G>T (p.Val4188Phe) | |
1 | g.237784242T>A | CA345413561 | RYR2 | c.*3622T>A (n.*3622T>A) c.12518T>A (p.Val4173Asp) c.12551T>A (p.Val4184Asp) c.4707T>A c.12530T>A (p.Val4177Asp) c.2583T>A c.12482T>A (p.Val4161Asp) n.3725T>A c.12584T>A (p.Val4195Asp) c.12581T>A (p.Val4194Asp) c.12560T>A (p.Val4187Asp) c.12554T>A (p.Val4185Asp) c.12548T>A (p.Val4183Asp) c.12524T>A (p.Val4175Asp) c.12347T>A (p.Val4116Asp) c.12491T>A (p.Val4164Asp) c.12563T>A (p.Val4188Asp) | ClinVar dbSNP |
1 | g.237784242T>C | CA345413560 | RYR2 | c.*3622T>C (n.*3622T>C) c.12518T>C (p.Val4173Ala) c.12551T>C (p.Val4184Ala) c.4707T>C c.12530T>C (p.Val4177Ala) c.2583T>C c.12482T>C (p.Val4161Ala) n.3725T>C c.12584T>C (p.Val4195Ala) c.12581T>C (p.Val4194Ala) c.12560T>C (p.Val4187Ala) c.12554T>C (p.Val4185Ala) c.12548T>C (p.Val4183Ala) c.12524T>C (p.Val4175Ala) c.12347T>C (p.Val4116Ala) c.12491T>C (p.Val4164Ala) c.12563T>C (p.Val4188Ala) | ClinVar dbSNP |
1 | g.237784242T>G | CA345413559 | RYR2 | c.*3622T>G (n.*3622T>G) c.12518T>G (p.Val4173Gly) c.12551T>G (p.Val4184Gly) c.4707T>G c.12530T>G (p.Val4177Gly) c.2583T>G c.12482T>G (p.Val4161Gly) n.3725T>G c.12584T>G (p.Val4195Gly) c.12581T>G (p.Val4194Gly) c.12560T>G (p.Val4187Gly) c.12554T>G (p.Val4185Gly) c.12548T>G (p.Val4183Gly) c.12524T>G (p.Val4175Gly) c.12347T>G (p.Val4116Gly) c.12491T>G (p.Val4164Gly) c.12563T>G (p.Val4188Gly) | |
1 | g.237784242T= | CA2487482438 | RYR2 | c.*3622T= (n.*3622T=) c.12518T= (p.Val4173=) c.12551T= (p.Val4184=) c.4707T= c.12530T= (p.Val4177=) c.2583T= c.12482T= (p.Val4161=) n.3725T= c.12584T= (p.Val4195=) c.12581T= (p.Val4194=) c.12560T= (p.Val4187=) c.12554T= (p.Val4185=) c.12548T= (p.Val4183=) c.12524T= (p.Val4175=) c.12347T= (p.Val4116=) c.12491T= (p.Val4164=) c.12563T= (p.Val4188=) | |
1 | g.237784243C>A | CA424032296 | RYR2 | c.*3623C>A (n.*3623C>A) c.12519C>A (p.Val4173=) c.12552C>A (p.Val4184=) c.4708C>A c.12531C>A (p.Val4177=) c.2584C>A c.12483C>A (p.Val4161=) n.3726C>A c.12585C>A (p.Val4195=) c.12582C>A (p.Val4194=) c.12561C>A (p.Val4187=) c.12555C>A (p.Val4185=) c.12549C>A (p.Val4183=) c.12525C>A (p.Val4175=) c.12348C>A (p.Val4116=) c.12492C>A (p.Val4164=) c.12564C>A (p.Val4188=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784243C= | CA2487482439 | RYR2 | c.*3623C= (n.*3623C=) c.12519C= (p.Val4173=) c.12552C= (p.Val4184=) c.4708C= c.12531C= (p.Val4177=) c.2584C= c.12483C= (p.Val4161=) n.3726C= c.12585C= (p.Val4195=) c.12582C= (p.Val4194=) c.12561C= (p.Val4187=) c.12555C= (p.Val4185=) c.12549C= (p.Val4183=) c.12525C= (p.Val4175=) c.12348C= (p.Val4116=) c.12492C= (p.Val4164=) c.12564C= (p.Val4188=) | |
1 | g.237784243C>G | CA424032297 | RYR2 | c.*3623C>G (n.*3623C>G) c.12519C>G (p.Val4173=) c.12552C>G (p.Val4184=) c.4708C>G c.12531C>G (p.Val4177=) c.2584C>G c.12483C>G (p.Val4161=) n.3726C>G c.12585C>G (p.Val4195=) c.12582C>G (p.Val4194=) c.12561C>G (p.Val4187=) c.12555C>G (p.Val4185=) c.12549C>G (p.Val4183=) c.12525C>G (p.Val4175=) c.12348C>G (p.Val4116=) c.12492C>G (p.Val4164=) c.12564C>G (p.Val4188=) | |
1 | g.237784243C>T | CA424032298 | RYR2 | c.*3623C>T (n.*3623C>T) c.12519C>T (p.Val4173=) c.12552C>T (p.Val4184=) c.4708C>T c.12531C>T (p.Val4177=) c.2584C>T c.12483C>T (p.Val4161=) n.3726C>T c.12585C>T (p.Val4195=) c.12582C>T (p.Val4194=) c.12561C>T (p.Val4187=) c.12555C>T (p.Val4185=) c.12549C>T (p.Val4183=) c.12525C>T (p.Val4175=) c.12348C>T (p.Val4116=) c.12492C>T (p.Val4164=) c.12564C>T (p.Val4188=) | |
1 | g.237784244A= | CA2487482440 | RYR2 | c.*3624A= (n.*3624A=) c.12520A= (p.Asn4174=) c.12553A= (p.Asn4185=) c.4709A= c.12532A= (p.Asn4178=) c.2585A= c.12484A= (p.Asn4162=) n.3727A= c.12586A= (p.Asn4196=) c.12583A= (p.Asn4195=) c.12562A= (p.Asn4188=) c.12556A= (p.Asn4186=) c.12550A= (p.Asn4184=) c.12526A= (p.Asn4176=) c.12349A= (p.Asn4117=) c.12493A= (p.Asn4165=) c.12565A= (p.Asn4189=) | |
1 | g.237784244A>C | CA345413562 | RYR2 | c.*3624A>C (n.*3624A>C) c.12520A>C (p.Asn4174His) c.12553A>C (p.Asn4185His) c.4709A>C c.12532A>C (p.Asn4178His) c.2585A>C c.12484A>C (p.Asn4162His) n.3727A>C c.12586A>C (p.Asn4196His) c.12583A>C (p.Asn4195His) c.12562A>C (p.Asn4188His) c.12556A>C (p.Asn4186His) c.12550A>C (p.Asn4184His) c.12526A>C (p.Asn4176His) c.12349A>C (p.Asn4117His) c.12493A>C (p.Asn4165His) c.12565A>C (p.Asn4189His) | |
1 | g.237784244A>G | CA345413563 | RYR2 | c.*3624A>G (n.*3624A>G) c.12520A>G (p.Asn4174Asp) c.12553A>G (p.Asn4185Asp) c.4709A>G c.12532A>G (p.Asn4178Asp) c.2585A>G c.12484A>G (p.Asn4162Asp) n.3727A>G c.12586A>G (p.Asn4196Asp) c.12583A>G (p.Asn4195Asp) c.12562A>G (p.Asn4188Asp) c.12556A>G (p.Asn4186Asp) c.12550A>G (p.Asn4184Asp) c.12526A>G (p.Asn4176Asp) c.12349A>G (p.Asn4117Asp) c.12493A>G (p.Asn4165Asp) c.12565A>G (p.Asn4189Asp) | |
1 | g.237784244A>T | CA345413564 | RYR2 | c.*3624A>T (n.*3624A>T) c.12520A>T (p.Asn4174Tyr) c.12553A>T (p.Asn4185Tyr) c.4709A>T c.12532A>T (p.Asn4178Tyr) c.2585A>T c.12484A>T (p.Asn4162Tyr) n.3727A>T c.12586A>T (p.Asn4196Tyr) c.12583A>T (p.Asn4195Tyr) c.12562A>T (p.Asn4188Tyr) c.12556A>T (p.Asn4186Tyr) c.12550A>T (p.Asn4184Tyr) c.12526A>T (p.Asn4176Tyr) c.12349A>T (p.Asn4117Tyr) c.12493A>T (p.Asn4165Tyr) c.12565A>T (p.Asn4189Tyr) | ClinVar dbSNP |