UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |