Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237784121G>A | CA39827584 | RYR2 | c.*3501G>A (n.*3501G>A) c.12397G>A (p.Glu4133Lys) c.12430G>A (p.Glu4144Lys) c.4586G>A c.12409G>A (p.Glu4137Lys) c.2462G>A c.12361G>A (p.Glu4121Lys) n.3604G>A c.12463G>A (p.Glu4155Lys) c.12460G>A (p.Glu4154Lys) c.12439G>A (p.Glu4147Lys) c.12433G>A (p.Glu4145Lys) c.12427G>A (p.Glu4143Lys) c.12403G>A (p.Glu4135Lys) c.12226G>A (p.Glu4076Lys) c.12370G>A (p.Glu4124Lys) c.12442G>A (p.Glu4148Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784121G>C | CA345413153 | RYR2 | c.*3501G>C (n.*3501G>C) c.12397G>C (p.Glu4133Gln) c.12430G>C (p.Glu4144Gln) c.4586G>C c.12409G>C (p.Glu4137Gln) c.2462G>C c.12361G>C (p.Glu4121Gln) n.3604G>C c.12463G>C (p.Glu4155Gln) c.12460G>C (p.Glu4154Gln) c.12439G>C (p.Glu4147Gln) c.12433G>C (p.Glu4145Gln) c.12427G>C (p.Glu4143Gln) c.12403G>C (p.Glu4135Gln) c.12226G>C (p.Glu4076Gln) c.12370G>C (p.Glu4124Gln) c.12442G>C (p.Glu4148Gln) | |
1 | g.237784121G= | CA1143537613 | RYR2 | c.*3501G= (n.*3501G=) c.12397G= (p.Glu4133=) c.12430G= (p.Glu4144=) c.4586G= c.12409G= (p.Glu4137=) c.2462G= c.12361G= (p.Glu4121=) n.3604G= c.12463G= (p.Glu4155=) c.12460G= (p.Glu4154=) c.12439G= (p.Glu4147=) c.12433G= (p.Glu4145=) c.12427G= (p.Glu4143=) c.12403G= (p.Glu4135=) c.12226G= (p.Glu4076=) c.12370G= (p.Glu4124=) c.12442G= (p.Glu4148=) | |
1 | g.237784121G>T | CA39827589 | RYR2 | c.*3501G>T (n.*3501G>T) c.12397G>T (p.Glu4133Ter) c.12430G>T (p.Glu4144Ter) c.4586G>T c.12409G>T (p.Glu4137Ter) c.2462G>T c.12361G>T (p.Glu4121Ter) n.3604G>T c.12463G>T (p.Glu4155Ter) c.12460G>T (p.Glu4154Ter) c.12439G>T (p.Glu4147Ter) c.12433G>T (p.Glu4145Ter) c.12427G>T (p.Glu4143Ter) c.12403G>T (p.Glu4135Ter) c.12226G>T (p.Glu4076Ter) c.12370G>T (p.Glu4124Ter) c.12442G>T (p.Glu4148Ter) | dbSNP |
1 | g.237784121dup | CA2651213123 | RYR2 | c.*3501dup (n.*3501dup) c.12397dup (p.Glu4133GlyfsTer15) c.12430dup (p.Glu4144GlyfsTer15) c.4586dup c.12409dup (p.Glu4137GlyfsTer15) c.2462dup c.12361dup (p.Glu4121GlyfsTer15) n.3604dup c.12463dup (p.Glu4155GlyfsTer15) c.12460dup (p.Glu4154GlyfsTer15) c.12439dup (p.Glu4147GlyfsTer15) c.12433dup (p.Glu4145GlyfsTer15) c.12427dup (p.Glu4143GlyfsTer15) c.12403dup (p.Glu4135GlyfsTer15) c.12226dup (p.Glu4076GlyfsTer15) c.12370dup (p.Glu4124GlyfsTer15) c.12442dup (p.Glu4148GlyfsTer15) | gnomAD v4 |
1 | g.237784122A>C | CA345413154 | RYR2 | c.*3502A>C (n.*3502A>C) c.12398A>C (p.Glu4133Ala) c.12431A>C (p.Glu4144Ala) c.4587A>C c.12410A>C (p.Glu4137Ala) c.2463A>C c.12362A>C (p.Glu4121Ala) n.3605A>C c.12464A>C (p.Glu4155Ala) c.12461A>C (p.Glu4154Ala) c.12440A>C (p.Glu4147Ala) c.12434A>C (p.Glu4145Ala) c.12428A>C (p.Glu4143Ala) c.12404A>C (p.Glu4135Ala) c.12227A>C (p.Glu4076Ala) c.12371A>C (p.Glu4124Ala) c.12443A>C (p.Glu4148Ala) | |
1 | g.237784122A>G | CA345413155 | RYR2 | c.*3502A>G (n.*3502A>G) c.12398A>G (p.Glu4133Gly) c.12431A>G (p.Glu4144Gly) c.4587A>G c.12410A>G (p.Glu4137Gly) c.2463A>G c.12362A>G (p.Glu4121Gly) n.3605A>G c.12464A>G (p.Glu4155Gly) c.12461A>G (p.Glu4154Gly) c.12440A>G (p.Glu4147Gly) c.12434A>G (p.Glu4145Gly) c.12428A>G (p.Glu4143Gly) c.12404A>G (p.Glu4135Gly) c.12227A>G (p.Glu4076Gly) c.12371A>G (p.Glu4124Gly) c.12443A>G (p.Glu4148Gly) | |
1 | g.237784122A>T | CA345413157 | RYR2 | c.*3502A>T (n.*3502A>T) c.12398A>T (p.Glu4133Val) c.12431A>T (p.Glu4144Val) c.4587A>T c.12410A>T (p.Glu4137Val) c.2463A>T c.12362A>T (p.Glu4121Val) n.3605A>T c.12464A>T (p.Glu4155Val) c.12461A>T (p.Glu4154Val) c.12440A>T (p.Glu4147Val) c.12434A>T (p.Glu4145Val) c.12428A>T (p.Glu4143Val) c.12404A>T (p.Glu4135Val) c.12227A>T (p.Glu4076Val) c.12371A>T (p.Glu4124Val) c.12443A>T (p.Glu4148Val) | |
1 | g.237784123A>C | CA345413158 | RYR2 | c.*3503A>C (n.*3503A>C) c.12399A>C (p.Glu4133Asp) c.12432A>C (p.Glu4144Asp) c.4588A>C c.12411A>C (p.Glu4137Asp) c.2464A>C c.12363A>C (p.Glu4121Asp) n.3606A>C c.12465A>C (p.Glu4155Asp) c.12462A>C (p.Glu4154Asp) c.12441A>C (p.Glu4147Asp) c.12435A>C (p.Glu4145Asp) c.12429A>C (p.Glu4143Asp) c.12405A>C (p.Glu4135Asp) c.12228A>C (p.Glu4076Asp) c.12372A>C (p.Glu4124Asp) c.12444A>C (p.Glu4148Asp) | |
1 | g.237784123A>G | CA424032154 | RYR2 | c.*3503A>G (n.*3503A>G) c.12399A>G (p.Glu4133=) c.12432A>G (p.Glu4144=) c.4588A>G c.12411A>G (p.Glu4137=) c.2464A>G c.12363A>G (p.Glu4121=) n.3606A>G c.12465A>G (p.Glu4155=) c.12462A>G (p.Glu4154=) c.12441A>G (p.Glu4147=) c.12435A>G (p.Glu4145=) c.12429A>G (p.Glu4143=) c.12405A>G (p.Glu4135=) c.12228A>G (p.Glu4076=) c.12372A>G (p.Glu4124=) c.12444A>G (p.Glu4148=) | |
1 | g.237784123A>T | CA345413159 | RYR2 | c.*3503A>T (n.*3503A>T) c.12399A>T (p.Glu4133Asp) c.12432A>T (p.Glu4144Asp) c.4588A>T c.12411A>T (p.Glu4137Asp) c.2464A>T c.12363A>T (p.Glu4121Asp) n.3606A>T c.12465A>T (p.Glu4155Asp) c.12462A>T (p.Glu4154Asp) c.12441A>T (p.Glu4147Asp) c.12435A>T (p.Glu4145Asp) c.12429A>T (p.Glu4143Asp) c.12405A>T (p.Glu4135Asp) c.12228A>T (p.Glu4076Asp) c.12372A>T (p.Glu4124Asp) c.12444A>T (p.Glu4148Asp) | |
1 | g.237784124A>C | CA345413162 | RYR2 | c.*3504A>C (n.*3504A>C) c.12400A>C (p.Ile4134Leu) c.12433A>C (p.Ile4145Leu) c.4589A>C c.12412A>C (p.Ile4138Leu) c.2465A>C c.12364A>C (p.Ile4122Leu) n.3607A>C c.12466A>C (p.Ile4156Leu) c.12463A>C (p.Ile4155Leu) c.12442A>C (p.Ile4148Leu) c.12436A>C (p.Ile4146Leu) c.12430A>C (p.Ile4144Leu) c.12406A>C (p.Ile4136Leu) c.12229A>C (p.Ile4077Leu) c.12373A>C (p.Ile4125Leu) c.12445A>C (p.Ile4149Leu) | |
1 | g.237784124A>G | CA345413163 | RYR2 | c.*3504A>G (n.*3504A>G) c.12400A>G (p.Ile4134Val) c.12433A>G (p.Ile4145Val) c.4589A>G c.12412A>G (p.Ile4138Val) c.2465A>G c.12364A>G (p.Ile4122Val) n.3607A>G c.12466A>G (p.Ile4156Val) c.12463A>G (p.Ile4155Val) c.12442A>G (p.Ile4148Val) c.12436A>G (p.Ile4146Val) c.12430A>G (p.Ile4144Val) c.12406A>G (p.Ile4136Val) c.12229A>G (p.Ile4077Val) c.12373A>G (p.Ile4125Val) c.12445A>G (p.Ile4149Val) | |
1 | g.237784124A>T | CA345413161 | RYR2 | c.*3504A>T (n.*3504A>T) c.12400A>T (p.Ile4134Phe) c.12433A>T (p.Ile4145Phe) c.4589A>T c.12412A>T (p.Ile4138Phe) c.2465A>T c.12364A>T (p.Ile4122Phe) n.3607A>T c.12466A>T (p.Ile4156Phe) c.12463A>T (p.Ile4155Phe) c.12442A>T (p.Ile4148Phe) c.12436A>T (p.Ile4146Phe) c.12430A>T (p.Ile4144Phe) c.12406A>T (p.Ile4136Phe) c.12229A>T (p.Ile4077Phe) c.12373A>T (p.Ile4125Phe) c.12445A>T (p.Ile4149Phe) | |
1 | g.237784125T>A | CA345413164 | RYR2 | c.*3505T>A (n.*3505T>A) c.12401T>A (p.Ile4134Asn) c.12434T>A (p.Ile4145Asn) c.4590T>A c.12413T>A (p.Ile4138Asn) c.2466T>A c.12365T>A (p.Ile4122Asn) n.3608T>A c.12467T>A (p.Ile4156Asn) c.12464T>A (p.Ile4155Asn) c.12443T>A (p.Ile4148Asn) c.12437T>A (p.Ile4146Asn) c.12431T>A (p.Ile4144Asn) c.12407T>A (p.Ile4136Asn) c.12230T>A (p.Ile4077Asn) c.12374T>A (p.Ile4125Asn) c.12446T>A (p.Ile4149Asn) | |
1 | g.237784125T>C | CA345413166 | RYR2 | c.*3505T>C (n.*3505T>C) c.12401T>C (p.Ile4134Thr) c.12434T>C (p.Ile4145Thr) c.4590T>C c.12413T>C (p.Ile4138Thr) c.2466T>C c.12365T>C (p.Ile4122Thr) n.3608T>C c.12467T>C (p.Ile4156Thr) c.12464T>C (p.Ile4155Thr) c.12443T>C (p.Ile4148Thr) c.12437T>C (p.Ile4146Thr) c.12431T>C (p.Ile4144Thr) c.12407T>C (p.Ile4136Thr) c.12230T>C (p.Ile4077Thr) c.12374T>C (p.Ile4125Thr) c.12446T>C (p.Ile4149Thr) | |
1 | g.237784125T>G | CA345413169 | RYR2 | c.*3505T>G (n.*3505T>G) c.12401T>G (p.Ile4134Ser) c.12434T>G (p.Ile4145Ser) c.4590T>G c.12413T>G (p.Ile4138Ser) c.2466T>G c.12365T>G (p.Ile4122Ser) n.3608T>G c.12467T>G (p.Ile4156Ser) c.12464T>G (p.Ile4155Ser) c.12443T>G (p.Ile4148Ser) c.12437T>G (p.Ile4146Ser) c.12431T>G (p.Ile4144Ser) c.12407T>G (p.Ile4136Ser) c.12230T>G (p.Ile4077Ser) c.12374T>G (p.Ile4125Ser) c.12446T>G (p.Ile4149Ser) | |
1 | g.237784126C>A | CA424032155 | RYR2 | c.*3506C>A (n.*3506C>A) c.12402C>A (p.Ile4134=) c.12435C>A (p.Ile4145=) c.4591C>A c.12414C>A (p.Ile4138=) c.2467C>A c.12366C>A (p.Ile4122=) n.3609C>A c.12468C>A (p.Ile4156=) c.12465C>A (p.Ile4155=) c.12444C>A (p.Ile4148=) c.12438C>A (p.Ile4146=) c.12432C>A (p.Ile4144=) c.12408C>A (p.Ile4136=) c.12231C>A (p.Ile4077=) c.12375C>A (p.Ile4125=) c.12447C>A (p.Ile4149=) | |
1 | g.237784126C>G | CA345413170 | RYR2 | c.*3506C>G (n.*3506C>G) c.12402C>G (p.Ile4134Met) c.12435C>G (p.Ile4145Met) c.4591C>G c.12414C>G (p.Ile4138Met) c.2467C>G c.12366C>G (p.Ile4122Met) n.3609C>G c.12468C>G (p.Ile4156Met) c.12465C>G (p.Ile4155Met) c.12444C>G (p.Ile4148Met) c.12438C>G (p.Ile4146Met) c.12432C>G (p.Ile4144Met) c.12408C>G (p.Ile4136Met) c.12231C>G (p.Ile4077Met) c.12375C>G (p.Ile4125Met) c.12447C>G (p.Ile4149Met) | |
1 | g.237784126C>T | CA424032156 | RYR2 | c.*3506C>T (n.*3506C>T) c.12402C>T (p.Ile4134=) c.12435C>T (p.Ile4145=) c.4591C>T c.12414C>T (p.Ile4138=) c.2467C>T c.12366C>T (p.Ile4122=) n.3609C>T c.12468C>T (p.Ile4156=) c.12465C>T (p.Ile4155=) c.12444C>T (p.Ile4148=) c.12438C>T (p.Ile4146=) c.12432C>T (p.Ile4144=) c.12408C>T (p.Ile4136=) c.12231C>T (p.Ile4077=) c.12375C>T (p.Ile4125=) c.12447C>T (p.Ile4149=) | |
1 | g.237784127A= | CA2487482393 | RYR2 | c.*3507A= (n.*3507A=) c.12403A= (p.Met4135=) c.12436A= (p.Met4146=) c.4592A= c.12415A= (p.Met4139=) c.2468A= c.12367A= (p.Met4123=) n.3610A= c.12469A= (p.Met4157=) c.12466A= (p.Met4156=) c.12445A= (p.Met4149=) c.12439A= (p.Met4147=) c.12433A= (p.Met4145=) c.12409A= (p.Met4137=) c.12232A= (p.Met4078=) c.12376A= (p.Met4126=) c.12448A= (p.Met4150=) | |
1 | g.237784127A>C | CA345413175 | RYR2 | c.*3507A>C (n.*3507A>C) c.12403A>C (p.Met4135Leu) c.12436A>C (p.Met4146Leu) c.4592A>C c.12415A>C (p.Met4139Leu) c.2468A>C c.12367A>C (p.Met4123Leu) n.3610A>C c.12469A>C (p.Met4157Leu) c.12466A>C (p.Met4156Leu) c.12445A>C (p.Met4149Leu) c.12439A>C (p.Met4147Leu) c.12433A>C (p.Met4145Leu) c.12409A>C (p.Met4137Leu) c.12232A>C (p.Met4078Leu) c.12376A>C (p.Met4126Leu) c.12448A>C (p.Met4150Leu) | |
1 | g.237784127A>G | CA345413174 | RYR2 | c.*3507A>G (n.*3507A>G) c.12403A>G (p.Met4135Val) c.12436A>G (p.Met4146Val) c.4592A>G c.12415A>G (p.Met4139Val) c.2468A>G c.12367A>G (p.Met4123Val) n.3610A>G c.12469A>G (p.Met4157Val) c.12466A>G (p.Met4156Val) c.12445A>G (p.Met4149Val) c.12439A>G (p.Met4147Val) c.12433A>G (p.Met4145Val) c.12409A>G (p.Met4137Val) c.12232A>G (p.Met4078Val) c.12376A>G (p.Met4126Val) c.12448A>G (p.Met4150Val) | ClinVar dbSNP gnomAD v4 |
1 | g.237784127A>T | CA345413171 | RYR2 | c.*3507A>T (n.*3507A>T) c.12403A>T (p.Met4135Leu) c.12436A>T (p.Met4146Leu) c.4592A>T c.12415A>T (p.Met4139Leu) c.2468A>T c.12367A>T (p.Met4123Leu) n.3610A>T c.12469A>T (p.Met4157Leu) c.12466A>T (p.Met4156Leu) c.12445A>T (p.Met4149Leu) c.12439A>T (p.Met4147Leu) c.12433A>T (p.Met4145Leu) c.12409A>T (p.Met4137Leu) c.12232A>T (p.Met4078Leu) c.12376A>T (p.Met4126Leu) c.12448A>T (p.Met4150Leu) | |
1 | g.237784128T>A | CA345413177 | RYR2 | c.*3508T>A (n.*3508T>A) c.12404T>A (p.Met4135Lys) c.12437T>A (p.Met4146Lys) c.4593T>A c.12416T>A (p.Met4139Lys) c.2469T>A c.12368T>A (p.Met4123Lys) n.3611T>A c.12470T>A (p.Met4157Lys) c.12467T>A (p.Met4156Lys) c.12446T>A (p.Met4149Lys) c.12440T>A (p.Met4147Lys) c.12434T>A (p.Met4145Lys) c.12410T>A (p.Met4137Lys) c.12233T>A (p.Met4078Lys) c.12377T>A (p.Met4126Lys) c.12449T>A (p.Met4150Lys) | |
1 | g.237784128T>C | CA085180 | RYR2 | c.*3508T>C (n.*3508T>C) c.12404T>C (p.Met4135Thr) c.12437T>C (p.Met4146Thr) c.4593T>C c.12416T>C (p.Met4139Thr) c.2469T>C c.12368T>C (p.Met4123Thr) n.3611T>C c.12470T>C (p.Met4157Thr) c.12467T>C (p.Met4156Thr) c.12446T>C (p.Met4149Thr) c.12440T>C (p.Met4147Thr) c.12434T>C (p.Met4145Thr) c.12410T>C (p.Met4137Thr) c.12233T>C (p.Met4078Thr) c.12377T>C (p.Met4126Thr) c.12449T>C (p.Met4150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784128T>G | CA345413179 | RYR2 | c.*3508T>G (n.*3508T>G) c.12404T>G (p.Met4135Arg) c.12437T>G (p.Met4146Arg) c.4593T>G c.12416T>G (p.Met4139Arg) c.2469T>G c.12368T>G (p.Met4123Arg) n.3611T>G c.12470T>G (p.Met4157Arg) c.12467T>G (p.Met4156Arg) c.12446T>G (p.Met4149Arg) c.12440T>G (p.Met4147Arg) c.12434T>G (p.Met4145Arg) c.12410T>G (p.Met4137Arg) c.12233T>G (p.Met4078Arg) c.12377T>G (p.Met4126Arg) c.12449T>G (p.Met4150Arg) | |
1 | g.237784128T= | CA2487482394 | RYR2 | c.*3508T= (n.*3508T=) c.12404T= (p.Met4135=) c.12437T= (p.Met4146=) c.4593T= c.12416T= (p.Met4139=) c.2469T= c.12368T= (p.Met4123=) n.3611T= c.12470T= (p.Met4157=) c.12467T= (p.Met4156=) c.12446T= (p.Met4149=) c.12440T= (p.Met4147=) c.12434T= (p.Met4145=) c.12410T= (p.Met4137=) c.12233T= (p.Met4078=) c.12377T= (p.Met4126=) c.12449T= (p.Met4150=) | |
1 | g.237784129G>A | CA345413181 | RYR2 | c.*3509G>A (n.*3509G>A) c.12405G>A (p.Met4135Ile) c.12438G>A (p.Met4146Ile) c.4594G>A c.12417G>A (p.Met4139Ile) c.2470G>A c.12369G>A (p.Met4123Ile) n.3612G>A c.12471G>A (p.Met4157Ile) c.12468G>A (p.Met4156Ile) c.12447G>A (p.Met4149Ile) c.12441G>A (p.Met4147Ile) c.12435G>A (p.Met4145Ile) c.12411G>A (p.Met4137Ile) c.12234G>A (p.Met4078Ile) c.12378G>A (p.Met4126Ile) c.12450G>A (p.Met4150Ile) | |
1 | g.237784129G>C | CA345413183 | RYR2 | c.*3509G>C (n.*3509G>C) c.12405G>C (p.Met4135Ile) c.12438G>C (p.Met4146Ile) c.4594G>C c.12417G>C (p.Met4139Ile) c.2470G>C c.12369G>C (p.Met4123Ile) n.3612G>C c.12471G>C (p.Met4157Ile) c.12468G>C (p.Met4156Ile) c.12447G>C (p.Met4149Ile) c.12441G>C (p.Met4147Ile) c.12435G>C (p.Met4145Ile) c.12411G>C (p.Met4137Ile) c.12234G>C (p.Met4078Ile) c.12378G>C (p.Met4126Ile) c.12450G>C (p.Met4150Ile) | |
1 | g.237784129G>T | CA345413185 | RYR2 | c.*3509G>T (n.*3509G>T) c.12405G>T (p.Met4135Ile) c.12438G>T (p.Met4146Ile) c.4594G>T c.12417G>T (p.Met4139Ile) c.2470G>T c.12369G>T (p.Met4123Ile) n.3612G>T c.12471G>T (p.Met4157Ile) c.12468G>T (p.Met4156Ile) c.12447G>T (p.Met4149Ile) c.12441G>T (p.Met4147Ile) c.12435G>T (p.Met4145Ile) c.12411G>T (p.Met4137Ile) c.12234G>T (p.Met4078Ile) c.12378G>T (p.Met4126Ile) c.12450G>T (p.Met4150Ile) | |
1 | g.237784131del | CA2651213124 | RYR2 | c.*3511del (n.*3511del) c.12407del (p.Gly4136GlufsTer?) c.12440del (p.Gly4147GlufsTer?) c.4596del c.12419del (p.Gly4140GlufsTer?) c.2472del c.12371del (p.Gly4124GlufsTer?) n.3614del c.12473del (p.Gly4158GlufsTer?) c.12470del (p.Gly4157GlufsTer?) c.12449del (p.Gly4150GlufsTer?) c.12443del (p.Gly4148GlufsTer?) c.12437del (p.Gly4146GlufsTer?) c.12413del (p.Gly4138GlufsTer?) c.12236del (p.Gly4079GlufsTer?) c.12380del (p.Gly4127GlufsTer?) c.12452del (p.Gly4151GlufsTer?) | gnomAD v4 |
1 | g.237784130G>A | CA345413186 | RYR2 | c.*3510G>A (n.*3510G>A) c.12406G>A (p.Gly4136Arg) c.12439G>A (p.Gly4147Arg) c.4595G>A c.12418G>A (p.Gly4140Arg) c.2471G>A c.12370G>A (p.Gly4124Arg) n.3613G>A c.12472G>A (p.Gly4158Arg) c.12469G>A (p.Gly4157Arg) c.12448G>A (p.Gly4150Arg) c.12442G>A (p.Gly4148Arg) c.12436G>A (p.Gly4146Arg) c.12412G>A (p.Gly4138Arg) c.12235G>A (p.Gly4079Arg) c.12379G>A (p.Gly4127Arg) c.12451G>A (p.Gly4151Arg) | |
1 | g.237784130G>C | CA345413190 | RYR2 | c.*3510G>C (n.*3510G>C) c.12406G>C (p.Gly4136Arg) c.12439G>C (p.Gly4147Arg) c.4595G>C c.12418G>C (p.Gly4140Arg) c.2471G>C c.12370G>C (p.Gly4124Arg) n.3613G>C c.12472G>C (p.Gly4158Arg) c.12469G>C (p.Gly4157Arg) c.12448G>C (p.Gly4150Arg) c.12442G>C (p.Gly4148Arg) c.12436G>C (p.Gly4146Arg) c.12412G>C (p.Gly4138Arg) c.12235G>C (p.Gly4079Arg) c.12379G>C (p.Gly4127Arg) c.12451G>C (p.Gly4151Arg) | |
1 | g.237784130G>T | CA345413188 | RYR2 | c.*3510G>T (n.*3510G>T) c.12406G>T (p.Gly4136Ter) c.12439G>T (p.Gly4147Ter) c.4595G>T c.12418G>T (p.Gly4140Ter) c.2471G>T c.12370G>T (p.Gly4124Ter) n.3613G>T c.12472G>T (p.Gly4158Ter) c.12469G>T (p.Gly4157Ter) c.12448G>T (p.Gly4150Ter) c.12442G>T (p.Gly4148Ter) c.12436G>T (p.Gly4146Ter) c.12412G>T (p.Gly4138Ter) c.12235G>T (p.Gly4079Ter) c.12379G>T (p.Gly4127Ter) c.12451G>T (p.Gly4151Ter) | |
1 | g.237784131G>A | CA345413192 | RYR2 | c.*3511G>A (n.*3511G>A) c.12407G>A (p.Gly4136Glu) c.12440G>A (p.Gly4147Glu) c.4596G>A c.12419G>A (p.Gly4140Glu) c.2472G>A c.12371G>A (p.Gly4124Glu) n.3614G>A c.12473G>A (p.Gly4158Glu) c.12470G>A (p.Gly4157Glu) c.12449G>A (p.Gly4150Glu) c.12443G>A (p.Gly4148Glu) c.12437G>A (p.Gly4146Glu) c.12413G>A (p.Gly4138Glu) c.12236G>A (p.Gly4079Glu) c.12380G>A (p.Gly4127Glu) c.12452G>A (p.Gly4151Glu) | |
1 | g.237784131G>C | CA345413193 | RYR2 | c.*3511G>C (n.*3511G>C) c.12407G>C (p.Gly4136Ala) c.12440G>C (p.Gly4147Ala) c.4596G>C c.12419G>C (p.Gly4140Ala) c.2472G>C c.12371G>C (p.Gly4124Ala) n.3614G>C c.12473G>C (p.Gly4158Ala) c.12470G>C (p.Gly4157Ala) c.12449G>C (p.Gly4150Ala) c.12443G>C (p.Gly4148Ala) c.12437G>C (p.Gly4146Ala) c.12413G>C (p.Gly4138Ala) c.12236G>C (p.Gly4079Ala) c.12380G>C (p.Gly4127Ala) c.12452G>C (p.Gly4151Ala) | ClinVar |
1 | g.237784131G>T | CA345413195 | RYR2 | c.*3511G>T (n.*3511G>T) c.12407G>T (p.Gly4136Val) c.12440G>T (p.Gly4147Val) c.4596G>T c.12419G>T (p.Gly4140Val) c.2472G>T c.12371G>T (p.Gly4124Val) n.3614G>T c.12473G>T (p.Gly4158Val) c.12470G>T (p.Gly4157Val) c.12449G>T (p.Gly4150Val) c.12443G>T (p.Gly4148Val) c.12437G>T (p.Gly4146Val) c.12413G>T (p.Gly4138Val) c.12236G>T (p.Gly4079Val) c.12380G>T (p.Gly4127Val) c.12452G>T (p.Gly4151Val) | |
1 | g.237784132A>C | CA424032161 | RYR2 | c.*3512A>C (n.*3512A>C) c.12408A>C (p.Gly4136=) c.12441A>C (p.Gly4147=) c.4597A>C c.12420A>C (p.Gly4140=) c.2473A>C c.12372A>C (p.Gly4124=) n.3615A>C c.12474A>C (p.Gly4158=) c.12471A>C (p.Gly4157=) c.12450A>C (p.Gly4150=) c.12444A>C (p.Gly4148=) c.12438A>C (p.Gly4146=) c.12414A>C (p.Gly4138=) c.12237A>C (p.Gly4079=) c.12381A>C (p.Gly4127=) c.12453A>C (p.Gly4151=) | |
1 | g.237784132A>G | CA424032162 | RYR2 | c.*3512A>G (n.*3512A>G) c.12408A>G (p.Gly4136=) c.12441A>G (p.Gly4147=) c.4597A>G c.12420A>G (p.Gly4140=) c.2473A>G c.12372A>G (p.Gly4124=) n.3615A>G c.12474A>G (p.Gly4158=) c.12471A>G (p.Gly4157=) c.12450A>G (p.Gly4150=) c.12444A>G (p.Gly4148=) c.12438A>G (p.Gly4146=) c.12414A>G (p.Gly4138=) c.12237A>G (p.Gly4079=) c.12381A>G (p.Gly4127=) c.12453A>G (p.Gly4151=) | |
1 | g.237784132A>T | CA424032163 | RYR2 | c.*3512A>T (n.*3512A>T) c.12408A>T (p.Gly4136=) c.12441A>T (p.Gly4147=) c.4597A>T c.12420A>T (p.Gly4140=) c.2473A>T c.12372A>T (p.Gly4124=) n.3615A>T c.12474A>T (p.Gly4158=) c.12471A>T (p.Gly4157=) c.12450A>T (p.Gly4150=) c.12444A>T (p.Gly4148=) c.12438A>T (p.Gly4146=) c.12414A>T (p.Gly4138=) c.12237A>T (p.Gly4079=) c.12381A>T (p.Gly4127=) c.12453A>T (p.Gly4151=) | |
1 | g.237784133A>C | CA345413198 | RYR2 | c.*3513A>C (n.*3513A>C) c.12409A>C (p.Ser4137Arg) c.12442A>C (p.Ser4148Arg) c.4598A>C c.12421A>C (p.Ser4141Arg) c.2474A>C c.12373A>C (p.Ser4125Arg) n.3616A>C c.12475A>C (p.Ser4159Arg) c.12472A>C (p.Ser4158Arg) c.12451A>C (p.Ser4151Arg) c.12445A>C (p.Ser4149Arg) c.12439A>C (p.Ser4147Arg) c.12415A>C (p.Ser4139Arg) c.12238A>C (p.Ser4080Arg) c.12382A>C (p.Ser4128Arg) c.12454A>C (p.Ser4152Arg) | |
1 | g.237784133A>G | CA345413199 | RYR2 | c.*3513A>G (n.*3513A>G) c.12409A>G (p.Ser4137Gly) c.12442A>G (p.Ser4148Gly) c.4598A>G c.12421A>G (p.Ser4141Gly) c.2474A>G c.12373A>G (p.Ser4125Gly) n.3616A>G c.12475A>G (p.Ser4159Gly) c.12472A>G (p.Ser4158Gly) c.12451A>G (p.Ser4151Gly) c.12445A>G (p.Ser4149Gly) c.12439A>G (p.Ser4147Gly) c.12415A>G (p.Ser4139Gly) c.12238A>G (p.Ser4080Gly) c.12382A>G (p.Ser4128Gly) c.12454A>G (p.Ser4152Gly) | |
1 | g.237784133A>T | CA345413201 | RYR2 | c.*3513A>T (n.*3513A>T) c.12409A>T (p.Ser4137Cys) c.12442A>T (p.Ser4148Cys) c.4598A>T c.12421A>T (p.Ser4141Cys) c.2474A>T c.12373A>T (p.Ser4125Cys) n.3616A>T c.12475A>T (p.Ser4159Cys) c.12472A>T (p.Ser4158Cys) c.12451A>T (p.Ser4151Cys) c.12445A>T (p.Ser4149Cys) c.12439A>T (p.Ser4147Cys) c.12415A>T (p.Ser4139Cys) c.12238A>T (p.Ser4080Cys) c.12382A>T (p.Ser4128Cys) c.12454A>T (p.Ser4152Cys) | |
1 | g.237784134G>A | CA345413203 | RYR2 | c.*3514G>A (n.*3514G>A) c.12410G>A (p.Ser4137Asn) c.12443G>A (p.Ser4148Asn) c.4599G>A c.12422G>A (p.Ser4141Asn) c.2475G>A c.12374G>A (p.Ser4125Asn) n.3617G>A c.12476G>A (p.Ser4159Asn) c.12473G>A (p.Ser4158Asn) c.12452G>A (p.Ser4151Asn) c.12446G>A (p.Ser4149Asn) c.12440G>A (p.Ser4147Asn) c.12416G>A (p.Ser4139Asn) c.12239G>A (p.Ser4080Asn) c.12383G>A (p.Ser4128Asn) c.12455G>A (p.Ser4152Asn) | |
1 | g.237784134G>C | CA345413205 | RYR2 | c.*3514G>C (n.*3514G>C) c.12410G>C (p.Ser4137Thr) c.12443G>C (p.Ser4148Thr) c.4599G>C c.12422G>C (p.Ser4141Thr) c.2475G>C c.12374G>C (p.Ser4125Thr) n.3617G>C c.12476G>C (p.Ser4159Thr) c.12473G>C (p.Ser4158Thr) c.12452G>C (p.Ser4151Thr) c.12446G>C (p.Ser4149Thr) c.12440G>C (p.Ser4147Thr) c.12416G>C (p.Ser4139Thr) c.12239G>C (p.Ser4080Thr) c.12383G>C (p.Ser4128Thr) c.12455G>C (p.Ser4152Thr) | |
1 | g.237784134G>T | CA345413206 | RYR2 | c.*3514G>T (n.*3514G>T) c.12410G>T (p.Ser4137Ile) c.12443G>T (p.Ser4148Ile) c.4599G>T c.12422G>T (p.Ser4141Ile) c.2475G>T c.12374G>T (p.Ser4125Ile) n.3617G>T c.12476G>T (p.Ser4159Ile) c.12473G>T (p.Ser4158Ile) c.12452G>T (p.Ser4151Ile) c.12446G>T (p.Ser4149Ile) c.12440G>T (p.Ser4147Ile) c.12416G>T (p.Ser4139Ile) c.12239G>T (p.Ser4080Ile) c.12383G>T (p.Ser4128Ile) c.12455G>T (p.Ser4152Ile) | |
1 | g.237784135C>A | CA345413208 | RYR2 | c.*3515C>A (n.*3515C>A) c.12411C>A (p.Ser4137Arg) c.12444C>A (p.Ser4148Arg) c.4600C>A c.12423C>A (p.Ser4141Arg) c.2476C>A c.12375C>A (p.Ser4125Arg) n.3618C>A c.12477C>A (p.Ser4159Arg) c.12474C>A (p.Ser4158Arg) c.12453C>A (p.Ser4151Arg) c.12447C>A (p.Ser4149Arg) c.12441C>A (p.Ser4147Arg) c.12417C>A (p.Ser4139Arg) c.12240C>A (p.Ser4080Arg) c.12384C>A (p.Ser4128Arg) c.12456C>A (p.Ser4152Arg) | |
1 | g.237784135C= | CA2487482395 | RYR2 | c.*3515C= (n.*3515C=) c.12411C= (p.Ser4137=) c.12444C= (p.Ser4148=) c.4600C= c.12423C= (p.Ser4141=) c.2476C= c.12375C= (p.Ser4125=) n.3618C= c.12477C= (p.Ser4159=) c.12474C= (p.Ser4158=) c.12453C= (p.Ser4151=) c.12447C= (p.Ser4149=) c.12441C= (p.Ser4147=) c.12417C= (p.Ser4139=) c.12240C= (p.Ser4080=) c.12384C= (p.Ser4128=) c.12456C= (p.Ser4152=) | |
1 | g.237784135C>G | CA345413210 | RYR2 | c.*3515C>G (n.*3515C>G) c.12411C>G (p.Ser4137Arg) c.12444C>G (p.Ser4148Arg) c.4600C>G c.12423C>G (p.Ser4141Arg) c.2476C>G c.12375C>G (p.Ser4125Arg) n.3618C>G c.12477C>G (p.Ser4159Arg) c.12474C>G (p.Ser4158Arg) c.12453C>G (p.Ser4151Arg) c.12447C>G (p.Ser4149Arg) c.12441C>G (p.Ser4147Arg) c.12417C>G (p.Ser4139Arg) c.12240C>G (p.Ser4080Arg) c.12384C>G (p.Ser4128Arg) c.12456C>G (p.Ser4152Arg) |