Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237783985G>A | CA16610025 | RYR2 | c.*3365G>A (n.*3365G>A) c.12261G>A (p.Ala4087=) c.12294G>A (p.Ala4098=) c.4450G>A c.12273G>A (p.Ala4091=) c.2326G>A c.12225G>A (p.Ala4075=) n.3468G>A c.12327G>A (p.Ala4109=) c.12324G>A (p.Ala4108=) c.12303G>A (p.Ala4101=) c.12297G>A (p.Ala4099=) c.12291G>A (p.Ala4097=) c.12267G>A (p.Ala4089=) c.12090G>A (p.Ala4030=) c.12234G>A (p.Ala4078=) c.12306G>A (p.Ala4102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237783985G>C | CA424032087 | RYR2 | c.*3365G>C (n.*3365G>C) c.12261G>C (p.Ala4087=) c.12294G>C (p.Ala4098=) c.4450G>C c.12273G>C (p.Ala4091=) c.2326G>C c.12225G>C (p.Ala4075=) n.3468G>C c.12327G>C (p.Ala4109=) c.12324G>C (p.Ala4108=) c.12303G>C (p.Ala4101=) c.12297G>C (p.Ala4099=) c.12291G>C (p.Ala4097=) c.12267G>C (p.Ala4089=) c.12090G>C (p.Ala4030=) c.12234G>C (p.Ala4078=) c.12306G>C (p.Ala4102=) | ClinVar dbSNP |
1 | g.237783985G= | CA2487482341 | RYR2 | c.*3365G= (n.*3365G=) c.12261G= (p.Ala4087=) c.12294G= (p.Ala4098=) c.4450G= c.12273G= (p.Ala4091=) c.2326G= c.12225G= (p.Ala4075=) n.3468G= c.12327G= (p.Ala4109=) c.12324G= (p.Ala4108=) c.12303G= (p.Ala4101=) c.12297G= (p.Ala4099=) c.12291G= (p.Ala4097=) c.12267G= (p.Ala4089=) c.12090G= (p.Ala4030=) c.12234G= (p.Ala4078=) c.12306G= (p.Ala4102=) | |
1 | g.237783985G>T | CA424032088 | RYR2 | c.*3365G>T (n.*3365G>T) c.12261G>T (p.Ala4087=) c.12294G>T (p.Ala4098=) c.4450G>T c.12273G>T (p.Ala4091=) c.2326G>T c.12225G>T (p.Ala4075=) n.3468G>T c.12327G>T (p.Ala4109=) c.12324G>T (p.Ala4108=) c.12303G>T (p.Ala4101=) c.12297G>T (p.Ala4099=) c.12291G>T (p.Ala4097=) c.12267G>T (p.Ala4089=) c.12090G>T (p.Ala4030=) c.12234G>T (p.Ala4078=) c.12306G>T (p.Ala4102=) | |
1 | g.237783986A>C | CA345412859 | RYR2 | c.*3366A>C (n.*3366A>C) c.12262A>C (p.Lys4088Gln) c.12295A>C (p.Lys4099Gln) c.4451A>C c.12274A>C (p.Lys4092Gln) c.2327A>C c.12226A>C (p.Lys4076Gln) n.3469A>C c.12328A>C (p.Lys4110Gln) c.12325A>C (p.Lys4109Gln) c.12304A>C (p.Lys4102Gln) c.12298A>C (p.Lys4100Gln) c.12292A>C (p.Lys4098Gln) c.12268A>C (p.Lys4090Gln) c.12091A>C (p.Lys4031Gln) c.12235A>C (p.Lys4079Gln) c.12307A>C (p.Lys4103Gln) | |
1 | g.237783986A>G | CA345412860 | RYR2 | c.*3366A>G (n.*3366A>G) c.12262A>G (p.Lys4088Glu) c.12295A>G (p.Lys4099Glu) c.4451A>G c.12274A>G (p.Lys4092Glu) c.2327A>G c.12226A>G (p.Lys4076Glu) n.3469A>G c.12328A>G (p.Lys4110Glu) c.12325A>G (p.Lys4109Glu) c.12304A>G (p.Lys4102Glu) c.12298A>G (p.Lys4100Glu) c.12292A>G (p.Lys4098Glu) c.12268A>G (p.Lys4090Glu) c.12091A>G (p.Lys4031Glu) c.12235A>G (p.Lys4079Glu) c.12307A>G (p.Lys4103Glu) | |
1 | g.237783986A>T | CA345412861 | RYR2 | c.*3366A>T (n.*3366A>T) c.12262A>T (p.Lys4088Ter) c.12295A>T (p.Lys4099Ter) c.4451A>T c.12274A>T (p.Lys4092Ter) c.2327A>T c.12226A>T (p.Lys4076Ter) n.3469A>T c.12328A>T (p.Lys4110Ter) c.12325A>T (p.Lys4109Ter) c.12304A>T (p.Lys4102Ter) c.12298A>T (p.Lys4100Ter) c.12292A>T (p.Lys4098Ter) c.12268A>T (p.Lys4090Ter) c.12091A>T (p.Lys4031Ter) c.12235A>T (p.Lys4079Ter) c.12307A>T (p.Lys4103Ter) | |
1 | g.237783987A>C | CA345412862 | RYR2 | c.*3367A>C (n.*3367A>C) c.12263A>C (p.Lys4088Thr) c.12296A>C (p.Lys4099Thr) c.4452A>C c.12275A>C (p.Lys4092Thr) c.2328A>C c.12227A>C (p.Lys4076Thr) n.3470A>C c.12329A>C (p.Lys4110Thr) c.12326A>C (p.Lys4109Thr) c.12305A>C (p.Lys4102Thr) c.12299A>C (p.Lys4100Thr) c.12293A>C (p.Lys4098Thr) c.12269A>C (p.Lys4090Thr) c.12092A>C (p.Lys4031Thr) c.12236A>C (p.Lys4079Thr) c.12308A>C (p.Lys4103Thr) | |
1 | g.237783987A>G | CA345412863 | RYR2 | c.*3367A>G (n.*3367A>G) c.12263A>G (p.Lys4088Arg) c.12296A>G (p.Lys4099Arg) c.4452A>G c.12275A>G (p.Lys4092Arg) c.2328A>G c.12227A>G (p.Lys4076Arg) n.3470A>G c.12329A>G (p.Lys4110Arg) c.12326A>G (p.Lys4109Arg) c.12305A>G (p.Lys4102Arg) c.12299A>G (p.Lys4100Arg) c.12293A>G (p.Lys4098Arg) c.12269A>G (p.Lys4090Arg) c.12092A>G (p.Lys4031Arg) c.12236A>G (p.Lys4079Arg) c.12308A>G (p.Lys4103Arg) | |
1 | g.237783987A>T | CA345412864 | RYR2 | c.*3367A>T (n.*3367A>T) c.12263A>T (p.Lys4088Met) c.12296A>T (p.Lys4099Met) c.4452A>T c.12275A>T (p.Lys4092Met) c.2328A>T c.12227A>T (p.Lys4076Met) n.3470A>T c.12329A>T (p.Lys4110Met) c.12326A>T (p.Lys4109Met) c.12305A>T (p.Lys4102Met) c.12299A>T (p.Lys4100Met) c.12293A>T (p.Lys4098Met) c.12269A>T (p.Lys4090Met) c.12092A>T (p.Lys4031Met) c.12236A>T (p.Lys4079Met) c.12308A>T (p.Lys4103Met) | |
1 | g.237783988G>A | CA066343 | RYR2 | c.*3368G>A (n.*3368G>A) c.12264G>A (p.Lys4088=) c.12297G>A (p.Lys4099=) c.4453G>A c.12276G>A (p.Lys4092=) c.2329G>A c.12228G>A (p.Lys4076=) n.3471G>A c.12330G>A (p.Lys4110=) c.12327G>A (p.Lys4109=) c.12306G>A (p.Lys4102=) c.12300G>A (p.Lys4100=) c.12294G>A (p.Lys4098=) c.12270G>A (p.Lys4090=) c.12093G>A (p.Lys4031=) c.12237G>A (p.Lys4079=) c.12309G>A (p.Lys4103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237783988G>C | CA345412865 | RYR2 | c.*3368G>C (n.*3368G>C) c.12264G>C (p.Lys4088Asn) c.12297G>C (p.Lys4099Asn) c.4453G>C c.12276G>C (p.Lys4092Asn) c.2329G>C c.12228G>C (p.Lys4076Asn) n.3471G>C c.12330G>C (p.Lys4110Asn) c.12327G>C (p.Lys4109Asn) c.12306G>C (p.Lys4102Asn) c.12300G>C (p.Lys4100Asn) c.12294G>C (p.Lys4098Asn) c.12270G>C (p.Lys4090Asn) c.12093G>C (p.Lys4031Asn) c.12237G>C (p.Lys4079Asn) c.12309G>C (p.Lys4103Asn) | |
1 | g.237783988G= | CA2487482342 | RYR2 | c.*3368G= (n.*3368G=) c.12264G= (p.Lys4088=) c.12297G= (p.Lys4099=) c.4453G= c.12276G= (p.Lys4092=) c.2329G= c.12228G= (p.Lys4076=) n.3471G= c.12330G= (p.Lys4110=) c.12327G= (p.Lys4109=) c.12306G= (p.Lys4102=) c.12300G= (p.Lys4100=) c.12294G= (p.Lys4098=) c.12270G= (p.Lys4090=) c.12093G= (p.Lys4031=) c.12237G= (p.Lys4079=) c.12309G= (p.Lys4103=) | |
1 | g.237783988G>T | CA345412866 | RYR2 | c.*3368G>T (n.*3368G>T) c.12264G>T (p.Lys4088Asn) c.12297G>T (p.Lys4099Asn) c.4453G>T c.12276G>T (p.Lys4092Asn) c.2329G>T c.12228G>T (p.Lys4076Asn) n.3471G>T c.12330G>T (p.Lys4110Asn) c.12327G>T (p.Lys4109Asn) c.12306G>T (p.Lys4102Asn) c.12300G>T (p.Lys4100Asn) c.12294G>T (p.Lys4098Asn) c.12270G>T (p.Lys4090Asn) c.12093G>T (p.Lys4031Asn) c.12237G>T (p.Lys4079Asn) c.12309G>T (p.Lys4103Asn) | COSMIC COSMIC |
1 | g.237783989G>A | CA066347 | RYR2 | c.*3369G>A (n.*3369G>A) c.12265G>A (p.Asp4089Asn) c.12298G>A (p.Asp4100Asn) c.4454G>A c.12277G>A (p.Asp4093Asn) c.2330G>A c.12229G>A (p.Asp4077Asn) n.3472G>A c.12331G>A (p.Asp4111Asn) c.12328G>A (p.Asp4110Asn) c.12307G>A (p.Asp4103Asn) c.12301G>A (p.Asp4101Asn) c.12295G>A (p.Asp4099Asn) c.12271G>A (p.Asp4091Asn) c.12094G>A (p.Asp4032Asn) c.12238G>A (p.Asp4080Asn) c.12310G>A (p.Asp4104Asn) | |
1 | g.237783989G>C | CA345412868 | RYR2 | c.*3369G>C (n.*3369G>C) c.12265G>C (p.Asp4089His) c.12298G>C (p.Asp4100His) c.4454G>C c.12277G>C (p.Asp4093His) c.2330G>C c.12229G>C (p.Asp4077His) n.3472G>C c.12331G>C (p.Asp4111His) c.12328G>C (p.Asp4110His) c.12307G>C (p.Asp4103His) c.12301G>C (p.Asp4101His) c.12295G>C (p.Asp4099His) c.12271G>C (p.Asp4091His) c.12094G>C (p.Asp4032His) c.12238G>C (p.Asp4080His) c.12310G>C (p.Asp4104His) | |
1 | g.237783989G>T | CA345412867 | RYR2 | c.*3369G>T (n.*3369G>T) c.12265G>T (p.Asp4089Tyr) c.12298G>T (p.Asp4100Tyr) c.4454G>T c.12277G>T (p.Asp4093Tyr) c.2330G>T c.12229G>T (p.Asp4077Tyr) n.3472G>T c.12331G>T (p.Asp4111Tyr) c.12328G>T (p.Asp4110Tyr) c.12307G>T (p.Asp4103Tyr) c.12301G>T (p.Asp4101Tyr) c.12295G>T (p.Asp4099Tyr) c.12271G>T (p.Asp4091Tyr) c.12094G>T (p.Asp4032Tyr) c.12238G>T (p.Asp4080Tyr) c.12310G>T (p.Asp4104Tyr) | |
1 | g.237783990A>C | CA345412869 | RYR2 | c.*3370A>C (n.*3370A>C) c.12266A>C (p.Asp4089Ala) c.12299A>C (p.Asp4100Ala) c.4455A>C c.12278A>C (p.Asp4093Ala) c.2331A>C c.12230A>C (p.Asp4077Ala) n.3473A>C c.12332A>C (p.Asp4111Ala) c.12329A>C (p.Asp4110Ala) c.12308A>C (p.Asp4103Ala) c.12302A>C (p.Asp4101Ala) c.12296A>C (p.Asp4099Ala) c.12272A>C (p.Asp4091Ala) c.12095A>C (p.Asp4032Ala) c.12239A>C (p.Asp4080Ala) c.12311A>C (p.Asp4104Ala) | |
1 | g.237783990A>G | CA345412870 | RYR2 | c.*3370A>G (n.*3370A>G) c.12266A>G (p.Asp4089Gly) c.12299A>G (p.Asp4100Gly) c.4455A>G c.12278A>G (p.Asp4093Gly) c.2331A>G c.12230A>G (p.Asp4077Gly) n.3473A>G c.12332A>G (p.Asp4111Gly) c.12329A>G (p.Asp4110Gly) c.12308A>G (p.Asp4103Gly) c.12302A>G (p.Asp4101Gly) c.12296A>G (p.Asp4099Gly) c.12272A>G (p.Asp4091Gly) c.12095A>G (p.Asp4032Gly) c.12239A>G (p.Asp4080Gly) c.12311A>G (p.Asp4104Gly) | ClinVar dbSNP |
1 | g.237783990A>T | CA345412871 | RYR2 | c.*3370A>T (n.*3370A>T) c.12266A>T (p.Asp4089Val) c.12299A>T (p.Asp4100Val) c.4455A>T c.12278A>T (p.Asp4093Val) c.2331A>T c.12230A>T (p.Asp4077Val) n.3473A>T c.12332A>T (p.Asp4111Val) c.12329A>T (p.Asp4110Val) c.12308A>T (p.Asp4103Val) c.12302A>T (p.Asp4101Val) c.12296A>T (p.Asp4099Val) c.12272A>T (p.Asp4091Val) c.12095A>T (p.Asp4032Val) c.12239A>T (p.Asp4080Val) c.12311A>T (p.Asp4104Val) | |
1 | g.237783991C>A | CA345412873 | RYR2 | c.*3371C>A (n.*3371C>A) c.12267C>A (p.Asp4089Glu) c.12300C>A (p.Asp4100Glu) c.4456C>A c.12279C>A (p.Asp4093Glu) c.2332C>A c.12231C>A (p.Asp4077Glu) n.3474C>A c.12333C>A (p.Asp4111Glu) c.12330C>A (p.Asp4110Glu) c.12309C>A (p.Asp4103Glu) c.12303C>A (p.Asp4101Glu) c.12297C>A (p.Asp4099Glu) c.12273C>A (p.Asp4091Glu) c.12096C>A (p.Asp4032Glu) c.12240C>A (p.Asp4080Glu) c.12312C>A (p.Asp4104Glu) | |
1 | g.237783991C= | CA2487482343 | RYR2 | c.*3371C= (n.*3371C=) c.12267C= (p.Asp4089=) c.12300C= (p.Asp4100=) c.4456C= c.12279C= (p.Asp4093=) c.2332C= c.12231C= (p.Asp4077=) n.3474C= c.12333C= (p.Asp4111=) c.12330C= (p.Asp4110=) c.12309C= (p.Asp4103=) c.12303C= (p.Asp4101=) c.12297C= (p.Asp4099=) c.12273C= (p.Asp4091=) c.12096C= (p.Asp4032=) c.12240C= (p.Asp4080=) c.12312C= (p.Asp4104=) | |
1 | g.237783991C>G | CA345412874 | RYR2 | c.*3371C>G (n.*3371C>G) c.12267C>G (p.Asp4089Glu) c.12300C>G (p.Asp4100Glu) c.4456C>G c.12279C>G (p.Asp4093Glu) c.2332C>G c.12231C>G (p.Asp4077Glu) n.3474C>G c.12333C>G (p.Asp4111Glu) c.12330C>G (p.Asp4110Glu) c.12309C>G (p.Asp4103Glu) c.12303C>G (p.Asp4101Glu) c.12297C>G (p.Asp4099Glu) c.12273C>G (p.Asp4091Glu) c.12096C>G (p.Asp4032Glu) c.12240C>G (p.Asp4080Glu) c.12312C>G (p.Asp4104Glu) | ClinVar dbSNP |
1 | g.237783991C>T | CA424032098 | RYR2 | c.*3371C>T (n.*3371C>T) c.12267C>T (p.Asp4089=) c.12300C>T (p.Asp4100=) c.4456C>T c.12279C>T (p.Asp4093=) c.2332C>T c.12231C>T (p.Asp4077=) n.3474C>T c.12333C>T (p.Asp4111=) c.12330C>T (p.Asp4110=) c.12309C>T (p.Asp4103=) c.12303C>T (p.Asp4101=) c.12297C>T (p.Asp4099=) c.12273C>T (p.Asp4091=) c.12096C>T (p.Asp4032=) c.12240C>T (p.Asp4080=) c.12312C>T (p.Asp4104=) | |
1 | g.237783992A= | CA2487482344 | RYR2 | c.*3372A= (n.*3372A=) c.12268A= (p.Ile4090=) c.12301A= (p.Ile4101=) c.4457A= c.12280A= (p.Ile4094=) c.2333A= c.12232A= (p.Ile4078=) n.3475A= c.12334A= (p.Ile4112=) c.12331A= (p.Ile4111=) c.12310A= (p.Ile4104=) c.12304A= (p.Ile4102=) c.12298A= (p.Ile4100=) c.12274A= (p.Ile4092=) c.12097A= (p.Ile4033=) c.12241A= (p.Ile4081=) c.12313A= (p.Ile4105=) | |
1 | g.237783992A>C | CA345412875 | RYR2 | c.*3372A>C (n.*3372A>C) c.12268A>C (p.Ile4090Leu) c.12301A>C (p.Ile4101Leu) c.4457A>C c.12280A>C (p.Ile4094Leu) c.2333A>C c.12232A>C (p.Ile4078Leu) n.3475A>C c.12334A>C (p.Ile4112Leu) c.12331A>C (p.Ile4111Leu) c.12310A>C (p.Ile4104Leu) c.12304A>C (p.Ile4102Leu) c.12298A>C (p.Ile4100Leu) c.12274A>C (p.Ile4092Leu) c.12097A>C (p.Ile4033Leu) c.12241A>C (p.Ile4081Leu) c.12313A>C (p.Ile4105Leu) | |
1 | g.237783992A>G | CA345412876 | RYR2 | c.*3372A>G (n.*3372A>G) c.12268A>G (p.Ile4090Val) c.12301A>G (p.Ile4101Val) c.4457A>G c.12280A>G (p.Ile4094Val) c.2333A>G c.12232A>G (p.Ile4078Val) n.3475A>G c.12334A>G (p.Ile4112Val) c.12331A>G (p.Ile4111Val) c.12310A>G (p.Ile4104Val) c.12304A>G (p.Ile4102Val) c.12298A>G (p.Ile4100Val) c.12274A>G (p.Ile4092Val) c.12097A>G (p.Ile4033Val) c.12241A>G (p.Ile4081Val) c.12313A>G (p.Ile4105Val) | ClinVar dbSNP |
1 | g.237783992A>T | CA345412877 | RYR2 | c.*3372A>T (n.*3372A>T) c.12268A>T (p.Ile4090Phe) c.12301A>T (p.Ile4101Phe) c.4457A>T c.12280A>T (p.Ile4094Phe) c.2333A>T c.12232A>T (p.Ile4078Phe) n.3475A>T c.12334A>T (p.Ile4112Phe) c.12331A>T (p.Ile4111Phe) c.12310A>T (p.Ile4104Phe) c.12304A>T (p.Ile4102Phe) c.12298A>T (p.Ile4100Phe) c.12274A>T (p.Ile4092Phe) c.12097A>T (p.Ile4033Phe) c.12241A>T (p.Ile4081Phe) c.12313A>T (p.Ile4105Phe) | |
1 | g.237783993T>A | CA345412878 | RYR2 | c.*3373T>A (n.*3373T>A) c.12269T>A (p.Ile4090Asn) c.12302T>A (p.Ile4101Asn) c.4458T>A c.12281T>A (p.Ile4094Asn) c.2334T>A c.12233T>A (p.Ile4078Asn) n.3476T>A c.12335T>A (p.Ile4112Asn) c.12332T>A (p.Ile4111Asn) c.12311T>A (p.Ile4104Asn) c.12305T>A (p.Ile4102Asn) c.12299T>A (p.Ile4100Asn) c.12275T>A (p.Ile4092Asn) c.12098T>A (p.Ile4033Asn) c.12242T>A (p.Ile4081Asn) c.12314T>A (p.Ile4105Asn) | |
1 | g.237783993T>C | CA345412879 | RYR2 | c.*3373T>C (n.*3373T>C) c.12269T>C (p.Ile4090Thr) c.12302T>C (p.Ile4101Thr) c.4458T>C c.12281T>C (p.Ile4094Thr) c.2334T>C c.12233T>C (p.Ile4078Thr) n.3476T>C c.12335T>C (p.Ile4112Thr) c.12332T>C (p.Ile4111Thr) c.12311T>C (p.Ile4104Thr) c.12305T>C (p.Ile4102Thr) c.12299T>C (p.Ile4100Thr) c.12275T>C (p.Ile4092Thr) c.12098T>C (p.Ile4033Thr) c.12242T>C (p.Ile4081Thr) c.12314T>C (p.Ile4105Thr) | |
1 | g.237783993T>G | CA345412880 | RYR2 | c.*3373T>G (n.*3373T>G) c.12269T>G (p.Ile4090Ser) c.12302T>G (p.Ile4101Ser) c.4458T>G c.12281T>G (p.Ile4094Ser) c.2334T>G c.12233T>G (p.Ile4078Ser) n.3476T>G c.12335T>G (p.Ile4112Ser) c.12332T>G (p.Ile4111Ser) c.12311T>G (p.Ile4104Ser) c.12305T>G (p.Ile4102Ser) c.12299T>G (p.Ile4100Ser) c.12275T>G (p.Ile4092Ser) c.12098T>G (p.Ile4033Ser) c.12242T>G (p.Ile4081Ser) c.12314T>G (p.Ile4105Ser) | |
1 | g.237783994C>A | CA424032100 | RYR2 | c.*3374C>A (n.*3374C>A) c.12270C>A (p.Ile4090=) c.12303C>A (p.Ile4101=) c.4459C>A c.12282C>A (p.Ile4094=) c.2335C>A c.12234C>A (p.Ile4078=) n.3477C>A c.12336C>A (p.Ile4112=) c.12333C>A (p.Ile4111=) c.12312C>A (p.Ile4104=) c.12306C>A (p.Ile4102=) c.12300C>A (p.Ile4100=) c.12276C>A (p.Ile4092=) c.12099C>A (p.Ile4033=) c.12243C>A (p.Ile4081=) c.12315C>A (p.Ile4105=) | ClinVar |
1 | g.237783994C= | CA2487482345 | RYR2 | c.*3374C= (n.*3374C=) c.12270C= (p.Ile4090=) c.12303C= (p.Ile4101=) c.4459C= c.12282C= (p.Ile4094=) c.2335C= c.12234C= (p.Ile4078=) n.3477C= c.12336C= (p.Ile4112=) c.12333C= (p.Ile4111=) c.12312C= (p.Ile4104=) c.12306C= (p.Ile4102=) c.12300C= (p.Ile4100=) c.12276C= (p.Ile4092=) c.12099C= (p.Ile4033=) c.12243C= (p.Ile4081=) c.12315C= (p.Ile4105=) | |
1 | g.237783994C>G | CA345412881 | RYR2 | c.*3374C>G (n.*3374C>G) c.12270C>G (p.Ile4090Met) c.12303C>G (p.Ile4101Met) c.4459C>G c.12282C>G (p.Ile4094Met) c.2335C>G c.12234C>G (p.Ile4078Met) n.3477C>G c.12336C>G (p.Ile4112Met) c.12333C>G (p.Ile4111Met) c.12312C>G (p.Ile4104Met) c.12306C>G (p.Ile4102Met) c.12300C>G (p.Ile4100Met) c.12276C>G (p.Ile4092Met) c.12099C>G (p.Ile4033Met) c.12243C>G (p.Ile4081Met) c.12315C>G (p.Ile4105Met) | |
1 | g.237783994C>T | CA085162 | RYR2 | c.*3374C>T (n.*3374C>T) c.12270C>T (p.Ile4090=) c.12303C>T (p.Ile4101=) c.4459C>T c.12282C>T (p.Ile4094=) c.2335C>T c.12234C>T (p.Ile4078=) n.3477C>T c.12336C>T (p.Ile4112=) c.12333C>T (p.Ile4111=) c.12312C>T (p.Ile4104=) c.12306C>T (p.Ile4102=) c.12300C>T (p.Ile4100=) c.12276C>T (p.Ile4092=) c.12099C>T (p.Ile4033=) c.12243C>T (p.Ile4081=) c.12315C>T (p.Ile4105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237783995G>A | CA007426 | RYR2 | c.*3375G>A (n.*3375G>A) c.12271G>A (p.Gly4091Ser) c.12304G>A (p.Gly4102Ser) c.4460G>A c.12283G>A (p.Gly4095Ser) c.2336G>A c.12235G>A (p.Gly4079Ser) n.3478G>A c.12337G>A (p.Gly4113Ser) c.12334G>A (p.Gly4112Ser) c.12313G>A (p.Gly4105Ser) c.12307G>A (p.Gly4103Ser) c.12301G>A (p.Gly4101Ser) c.12277G>A (p.Gly4093Ser) c.12100G>A (p.Gly4034Ser) c.12244G>A (p.Gly4082Ser) c.12316G>A (p.Gly4106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237783995G>C | CA345412883 | RYR2 | c.*3375G>C (n.*3375G>C) c.12271G>C (p.Gly4091Arg) c.12304G>C (p.Gly4102Arg) c.4460G>C c.12283G>C (p.Gly4095Arg) c.2336G>C c.12235G>C (p.Gly4079Arg) n.3478G>C c.12337G>C (p.Gly4113Arg) c.12334G>C (p.Gly4112Arg) c.12313G>C (p.Gly4105Arg) c.12307G>C (p.Gly4103Arg) c.12301G>C (p.Gly4101Arg) c.12277G>C (p.Gly4093Arg) c.12100G>C (p.Gly4034Arg) c.12244G>C (p.Gly4082Arg) c.12316G>C (p.Gly4106Arg) | |
1 | g.237783995G= | CA2487482346 | RYR2 | c.*3375G= (n.*3375G=) c.12271G= (p.Gly4091=) c.12304G= (p.Gly4102=) c.4460G= c.12283G= (p.Gly4095=) c.2336G= c.12235G= (p.Gly4079=) n.3478G= c.12337G= (p.Gly4113=) c.12334G= (p.Gly4112=) c.12313G= (p.Gly4105=) c.12307G= (p.Gly4103=) c.12301G= (p.Gly4101=) c.12277G= (p.Gly4093=) c.12100G= (p.Gly4034=) c.12244G= (p.Gly4082=) c.12316G= (p.Gly4106=) | |
1 | g.237783995G>T | CA345412882 | RYR2 | c.*3375G>T (n.*3375G>T) c.12271G>T (p.Gly4091Cys) c.12304G>T (p.Gly4102Cys) c.4460G>T c.12283G>T (p.Gly4095Cys) c.2336G>T c.12235G>T (p.Gly4079Cys) n.3478G>T c.12337G>T (p.Gly4113Cys) c.12334G>T (p.Gly4112Cys) c.12313G>T (p.Gly4105Cys) c.12307G>T (p.Gly4103Cys) c.12301G>T (p.Gly4101Cys) c.12277G>T (p.Gly4093Cys) c.12100G>T (p.Gly4034Cys) c.12244G>T (p.Gly4082Cys) c.12316G>T (p.Gly4106Cys) | |
1 | g.237783996G>A | CA345412886 | RYR2 | c.*3376G>A (n.*3376G>A) c.12272G>A (p.Gly4091Asp) c.12305G>A (p.Gly4102Asp) c.4461G>A c.12284G>A (p.Gly4095Asp) c.2337G>A c.12236G>A (p.Gly4079Asp) n.3479G>A c.12338G>A (p.Gly4113Asp) c.12335G>A (p.Gly4112Asp) c.12314G>A (p.Gly4105Asp) c.12308G>A (p.Gly4103Asp) c.12302G>A (p.Gly4101Asp) c.12278G>A (p.Gly4093Asp) c.12101G>A (p.Gly4034Asp) c.12245G>A (p.Gly4082Asp) c.12317G>A (p.Gly4106Asp) | |
1 | g.237783996G>C | CA345412884 | RYR2 | c.*3376G>C (n.*3376G>C) c.12272G>C (p.Gly4091Ala) c.12305G>C (p.Gly4102Ala) c.4461G>C c.12284G>C (p.Gly4095Ala) c.2337G>C c.12236G>C (p.Gly4079Ala) n.3479G>C c.12338G>C (p.Gly4113Ala) c.12335G>C (p.Gly4112Ala) c.12314G>C (p.Gly4105Ala) c.12308G>C (p.Gly4103Ala) c.12302G>C (p.Gly4101Ala) c.12278G>C (p.Gly4093Ala) c.12101G>C (p.Gly4034Ala) c.12245G>C (p.Gly4082Ala) c.12317G>C (p.Gly4106Ala) | |
1 | g.237783996G>T | CA345412885 | RYR2 | c.*3376G>T (n.*3376G>T) c.12272G>T (p.Gly4091Val) c.12305G>T (p.Gly4102Val) c.4461G>T c.12284G>T (p.Gly4095Val) c.2337G>T c.12236G>T (p.Gly4079Val) n.3479G>T c.12338G>T (p.Gly4113Val) c.12335G>T (p.Gly4112Val) c.12314G>T (p.Gly4105Val) c.12308G>T (p.Gly4103Val) c.12302G>T (p.Gly4101Val) c.12278G>T (p.Gly4093Val) c.12101G>T (p.Gly4034Val) c.12245G>T (p.Gly4082Val) c.12317G>T (p.Gly4106Val) | |
1 | g.237783997C>A | CA424032102 | RYR2 | c.*3377C>A (n.*3377C>A) c.12273C>A (p.Gly4091=) c.12306C>A (p.Gly4102=) c.4462C>A c.12285C>A (p.Gly4095=) c.2338C>A c.12237C>A (p.Gly4079=) n.3480C>A c.12339C>A (p.Gly4113=) c.12336C>A (p.Gly4112=) c.12315C>A (p.Gly4105=) c.12309C>A (p.Gly4103=) c.12303C>A (p.Gly4101=) c.12279C>A (p.Gly4093=) c.12102C>A (p.Gly4034=) c.12246C>A (p.Gly4082=) c.12318C>A (p.Gly4106=) | |
1 | g.237783997C= | CA2487482347 | RYR2 | c.*3377C= (n.*3377C=) c.12273C= (p.Gly4091=) c.12306C= (p.Gly4102=) c.4462C= c.12285C= (p.Gly4095=) c.2338C= c.12237C= (p.Gly4079=) n.3480C= c.12339C= (p.Gly4113=) c.12336C= (p.Gly4112=) c.12315C= (p.Gly4105=) c.12309C= (p.Gly4103=) c.12303C= (p.Gly4101=) c.12279C= (p.Gly4093=) c.12102C= (p.Gly4034=) c.12246C= (p.Gly4082=) c.12318C= (p.Gly4106=) | |
1 | g.237783997C>G | CA424032104 | RYR2 | c.*3377C>G (n.*3377C>G) c.12273C>G (p.Gly4091=) c.12306C>G (p.Gly4102=) c.4462C>G c.12285C>G (p.Gly4095=) c.2338C>G c.12237C>G (p.Gly4079=) n.3480C>G c.12339C>G (p.Gly4113=) c.12336C>G (p.Gly4112=) c.12315C>G (p.Gly4105=) c.12309C>G (p.Gly4103=) c.12303C>G (p.Gly4101=) c.12279C>G (p.Gly4093=) c.12102C>G (p.Gly4034=) c.12246C>G (p.Gly4082=) c.12318C>G (p.Gly4106=) | |
1 | g.237783997C>T | CA39827394 | RYR2 | c.*3377C>T (n.*3377C>T) c.12273C>T (p.Gly4091=) c.12306C>T (p.Gly4102=) c.4462C>T c.12285C>T (p.Gly4095=) c.2338C>T c.12237C>T (p.Gly4079=) n.3480C>T c.12339C>T (p.Gly4113=) c.12336C>T (p.Gly4112=) c.12315C>T (p.Gly4105=) c.12309C>T (p.Gly4103=) c.12303C>T (p.Gly4101=) c.12279C>T (p.Gly4093=) c.12102C>T (p.Gly4034=) c.12246C>T (p.Gly4082=) c.12318C>T (p.Gly4106=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237783998T>A | CA345412887 | RYR2 | c.*3378T>A (n.*3378T>A) c.12274T>A (p.Phe4092Ile) c.12307T>A (p.Phe4103Ile) c.4463T>A c.12286T>A (p.Phe4096Ile) c.2339T>A c.12238T>A (p.Phe4080Ile) n.3481T>A c.12340T>A (p.Phe4114Ile) c.12337T>A (p.Phe4113Ile) c.12316T>A (p.Phe4106Ile) c.12310T>A (p.Phe4104Ile) c.12304T>A (p.Phe4102Ile) c.12280T>A (p.Phe4094Ile) c.12103T>A (p.Phe4035Ile) c.12247T>A (p.Phe4083Ile) c.12319T>A (p.Phe4107Ile) | |
1 | g.237783998T>C | CA345412888 | RYR2 | c.*3378T>C (n.*3378T>C) c.12274T>C (p.Phe4092Leu) c.12307T>C (p.Phe4103Leu) c.4463T>C c.12286T>C (p.Phe4096Leu) c.2339T>C c.12238T>C (p.Phe4080Leu) n.3481T>C c.12340T>C (p.Phe4114Leu) c.12337T>C (p.Phe4113Leu) c.12316T>C (p.Phe4106Leu) c.12310T>C (p.Phe4104Leu) c.12304T>C (p.Phe4102Leu) c.12280T>C (p.Phe4094Leu) c.12103T>C (p.Phe4035Leu) c.12247T>C (p.Phe4083Leu) c.12319T>C (p.Phe4107Leu) | gnomAD v4 |
1 | g.237783998T>G | CA345412889 | RYR2 | c.*3378T>G (n.*3378T>G) c.12274T>G (p.Phe4092Val) c.12307T>G (p.Phe4103Val) c.4463T>G c.12286T>G (p.Phe4096Val) c.2339T>G c.12238T>G (p.Phe4080Val) n.3481T>G c.12340T>G (p.Phe4114Val) c.12337T>G (p.Phe4113Val) c.12316T>G (p.Phe4106Val) c.12310T>G (p.Phe4104Val) c.12304T>G (p.Phe4102Val) c.12280T>G (p.Phe4094Val) c.12103T>G (p.Phe4035Val) c.12247T>G (p.Phe4083Val) c.12319T>G (p.Phe4107Val) | |
1 | g.237783999T>A | CA345412892 | RYR2 | c.*3379T>A (n.*3379T>A) c.12275T>A (p.Phe4092Tyr) c.12308T>A (p.Phe4103Tyr) c.4464T>A c.12287T>A (p.Phe4096Tyr) c.2340T>A c.12239T>A (p.Phe4080Tyr) n.3482T>A c.12341T>A (p.Phe4114Tyr) c.12338T>A (p.Phe4113Tyr) c.12317T>A (p.Phe4106Tyr) c.12311T>A (p.Phe4104Tyr) c.12305T>A (p.Phe4102Tyr) c.12281T>A (p.Phe4094Tyr) c.12104T>A (p.Phe4035Tyr) c.12248T>A (p.Phe4083Tyr) c.12320T>A (p.Phe4107Tyr) | |
1 | g.237783999T>C | CA345412891 | RYR2 | c.*3379T>C (n.*3379T>C) c.12275T>C (p.Phe4092Ser) c.12308T>C (p.Phe4103Ser) c.4464T>C c.12287T>C (p.Phe4096Ser) c.2340T>C c.12239T>C (p.Phe4080Ser) n.3482T>C c.12341T>C (p.Phe4114Ser) c.12338T>C (p.Phe4113Ser) c.12317T>C (p.Phe4106Ser) c.12311T>C (p.Phe4104Ser) c.12305T>C (p.Phe4102Ser) c.12281T>C (p.Phe4094Ser) c.12104T>C (p.Phe4035Ser) c.12248T>C (p.Phe4083Ser) c.12320T>C (p.Phe4107Ser) | |
1 | g.237783999T>G | CA345412890 | RYR2 | c.*3379T>G (n.*3379T>G) c.12275T>G (p.Phe4092Cys) c.12308T>G (p.Phe4103Cys) c.4464T>G c.12287T>G (p.Phe4096Cys) c.2340T>G c.12239T>G (p.Phe4080Cys) n.3482T>G c.12341T>G (p.Phe4114Cys) c.12338T>G (p.Phe4113Cys) c.12317T>G (p.Phe4106Cys) c.12311T>G (p.Phe4104Cys) c.12305T>G (p.Phe4102Cys) c.12281T>G (p.Phe4094Cys) c.12104T>G (p.Phe4035Cys) c.12248T>G (p.Phe4083Cys) c.12320T>G (p.Phe4107Cys) | |
1 | g.237784000C>A | CA345412893 | RYR2 | c.*3380C>A (n.*3380C>A) c.12276C>A (p.Phe4092Leu) c.12309C>A (p.Phe4103Leu) c.4465C>A c.12288C>A (p.Phe4096Leu) c.2341C>A c.12240C>A (p.Phe4080Leu) n.3483C>A c.12342C>A (p.Phe4114Leu) c.12339C>A (p.Phe4113Leu) c.12318C>A (p.Phe4106Leu) c.12312C>A (p.Phe4104Leu) c.12306C>A (p.Phe4102Leu) c.12282C>A (p.Phe4094Leu) c.12105C>A (p.Phe4035Leu) c.12249C>A (p.Phe4083Leu) c.12321C>A (p.Phe4107Leu) | |
1 | g.237784000C= | CA2487482348 | RYR2 | c.*3380C= (n.*3380C=) c.12276C= (p.Phe4092=) c.12309C= (p.Phe4103=) c.4465C= c.12288C= (p.Phe4096=) c.2341C= c.12240C= (p.Phe4080=) n.3483C= c.12342C= (p.Phe4114=) c.12339C= (p.Phe4113=) c.12318C= (p.Phe4106=) c.12312C= (p.Phe4104=) c.12306C= (p.Phe4102=) c.12282C= (p.Phe4094=) c.12105C= (p.Phe4035=) c.12249C= (p.Phe4083=) c.12321C= (p.Phe4107=) | |
1 | g.237784000C>G | CA345412894 | RYR2 | c.*3380C>G (n.*3380C>G) c.12276C>G (p.Phe4092Leu) c.12309C>G (p.Phe4103Leu) c.4465C>G c.12288C>G (p.Phe4096Leu) c.2341C>G c.12240C>G (p.Phe4080Leu) n.3483C>G c.12342C>G (p.Phe4114Leu) c.12339C>G (p.Phe4113Leu) c.12318C>G (p.Phe4106Leu) c.12312C>G (p.Phe4104Leu) c.12306C>G (p.Phe4102Leu) c.12282C>G (p.Phe4094Leu) c.12105C>G (p.Phe4035Leu) c.12249C>G (p.Phe4083Leu) c.12321C>G (p.Phe4107Leu) | |
1 | g.237784000C>T | CA085163 | RYR2 | c.*3380C>T (n.*3380C>T) c.12276C>T (p.Phe4092=) c.12309C>T (p.Phe4103=) c.4465C>T c.12288C>T (p.Phe4096=) c.2341C>T c.12240C>T (p.Phe4080=) n.3483C>T c.12342C>T (p.Phe4114=) c.12339C>T (p.Phe4113=) c.12318C>T (p.Phe4106=) c.12312C>T (p.Phe4104=) c.12306C>T (p.Phe4102=) c.12282C>T (p.Phe4094=) c.12105C>T (p.Phe4035=) c.12249C>T (p.Phe4083=) c.12321C>T (p.Phe4107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784001A= | CA2487482349 | RYR2 | c.*3381A= (n.*3381A=) c.12277A= (p.Asn4093=) c.12310A= (p.Asn4104=) c.4466A= c.12289A= (p.Asn4097=) c.2342A= c.12241A= (p.Asn4081=) n.3484A= c.12343A= (p.Asn4115=) c.12340A= (p.Asn4114=) c.12319A= (p.Asn4107=) c.12313A= (p.Asn4105=) c.12307A= (p.Asn4103=) c.12283A= (p.Asn4095=) c.12106A= (p.Asn4036=) c.12250A= (p.Asn4084=) c.12322A= (p.Asn4108=) | |
1 | g.237784001A>C | CA345412895 | RYR2 | c.*3381A>C (n.*3381A>C) c.12277A>C (p.Asn4093His) c.12310A>C (p.Asn4104His) c.4466A>C c.12289A>C (p.Asn4097His) c.2342A>C c.12241A>C (p.Asn4081His) n.3484A>C c.12343A>C (p.Asn4115His) c.12340A>C (p.Asn4114His) c.12319A>C (p.Asn4107His) c.12313A>C (p.Asn4105His) c.12307A>C (p.Asn4103His) c.12283A>C (p.Asn4095His) c.12106A>C (p.Asn4036His) c.12250A>C (p.Asn4084His) c.12322A>C (p.Asn4108His) | |
1 | g.237784001A>G | CA345412896 | RYR2 | c.*3381A>G (n.*3381A>G) c.12277A>G (p.Asn4093Asp) c.12310A>G (p.Asn4104Asp) c.4466A>G c.12289A>G (p.Asn4097Asp) c.2342A>G c.12241A>G (p.Asn4081Asp) n.3484A>G c.12343A>G (p.Asn4115Asp) c.12340A>G (p.Asn4114Asp) c.12319A>G (p.Asn4107Asp) c.12313A>G (p.Asn4105Asp) c.12307A>G (p.Asn4103Asp) c.12283A>G (p.Asn4095Asp) c.12106A>G (p.Asn4036Asp) c.12250A>G (p.Asn4084Asp) c.12322A>G (p.Asn4108Asp) | ClinVar dbSNP |
1 | g.237784001A>T | CA345412897 | RYR2 | c.*3381A>T (n.*3381A>T) c.12277A>T (p.Asn4093Tyr) c.12310A>T (p.Asn4104Tyr) c.4466A>T c.12289A>T (p.Asn4097Tyr) c.2342A>T c.12241A>T (p.Asn4081Tyr) n.3484A>T c.12343A>T (p.Asn4115Tyr) c.12340A>T (p.Asn4114Tyr) c.12319A>T (p.Asn4107Tyr) c.12313A>T (p.Asn4105Tyr) c.12307A>T (p.Asn4103Tyr) c.12283A>T (p.Asn4095Tyr) c.12106A>T (p.Asn4036Tyr) c.12250A>T (p.Asn4084Tyr) c.12322A>T (p.Asn4108Tyr) | |
1 | g.237784002A= | CA2487482350 | RYR2 | c.*3382A= (n.*3382A=) c.12278A= (p.Asn4093=) c.12311A= (p.Asn4104=) c.4467A= c.12290A= (p.Asn4097=) c.2343A= c.12242A= (p.Asn4081=) n.3485A= c.12344A= (p.Asn4115=) c.12341A= (p.Asn4114=) c.12320A= (p.Asn4107=) c.12314A= (p.Asn4105=) c.12308A= (p.Asn4103=) c.12284A= (p.Asn4095=) c.12107A= (p.Asn4036=) c.12251A= (p.Asn4084=) c.12323A= (p.Asn4108=) | |
1 | g.237784002A>C | CA345412899 | RYR2 | c.*3382A>C (n.*3382A>C) c.12278A>C (p.Asn4093Thr) c.12311A>C (p.Asn4104Thr) c.4467A>C c.12290A>C (p.Asn4097Thr) c.2343A>C c.12242A>C (p.Asn4081Thr) n.3485A>C c.12344A>C (p.Asn4115Thr) c.12341A>C (p.Asn4114Thr) c.12320A>C (p.Asn4107Thr) c.12314A>C (p.Asn4105Thr) c.12308A>C (p.Asn4103Thr) c.12284A>C (p.Asn4095Thr) c.12107A>C (p.Asn4036Thr) c.12251A>C (p.Asn4084Thr) c.12323A>C (p.Asn4108Thr) | |
1 | g.237784002A>G | CA007436 | RYR2 | c.*3382A>G (n.*3382A>G) c.12278A>G (p.Asn4093Ser) c.12311A>G (p.Asn4104Ser) c.4467A>G c.12290A>G (p.Asn4097Ser) c.2343A>G c.12242A>G (p.Asn4081Ser) n.3485A>G c.12344A>G (p.Asn4115Ser) c.12341A>G (p.Asn4114Ser) c.12320A>G (p.Asn4107Ser) c.12314A>G (p.Asn4105Ser) c.12308A>G (p.Asn4103Ser) c.12284A>G (p.Asn4095Ser) c.12107A>G (p.Asn4036Ser) c.12251A>G (p.Asn4084Ser) c.12323A>G (p.Asn4108Ser) | ClinVar dbSNP |
1 | g.237784002A>T | CA345412898 | RYR2 | c.*3382A>T (n.*3382A>T) c.12278A>T (p.Asn4093Ile) c.12311A>T (p.Asn4104Ile) c.4467A>T c.12290A>T (p.Asn4097Ile) c.2343A>T c.12242A>T (p.Asn4081Ile) n.3485A>T c.12344A>T (p.Asn4115Ile) c.12341A>T (p.Asn4114Ile) c.12320A>T (p.Asn4107Ile) c.12314A>T (p.Asn4105Ile) c.12308A>T (p.Asn4103Ile) c.12284A>T (p.Asn4095Ile) c.12107A>T (p.Asn4036Ile) c.12251A>T (p.Asn4084Ile) c.12323A>T (p.Asn4108Ile) | |
1 | g.237784003C>A | CA345412900 | RYR2 | c.*3383C>A (n.*3383C>A) c.12279C>A (p.Asn4093Lys) c.12312C>A (p.Asn4104Lys) c.4468C>A c.12291C>A (p.Asn4097Lys) c.2344C>A c.12243C>A (p.Asn4081Lys) n.3486C>A c.12345C>A (p.Asn4115Lys) c.12342C>A (p.Asn4114Lys) c.12321C>A (p.Asn4107Lys) c.12315C>A (p.Asn4105Lys) c.12309C>A (p.Asn4103Lys) c.12285C>A (p.Asn4095Lys) c.12108C>A (p.Asn4036Lys) c.12252C>A (p.Asn4084Lys) c.12324C>A (p.Asn4108Lys) | |
1 | g.237784003C= | CA1144184409 | RYR2 | c.*3383C= (n.*3383C=) c.12279C= (p.Asn4093=) c.12312C= (p.Asn4104=) c.4468C= c.12291C= (p.Asn4097=) c.2344C= c.12243C= (p.Asn4081=) n.3486C= c.12345C= (p.Asn4115=) c.12342C= (p.Asn4114=) c.12321C= (p.Asn4107=) c.12315C= (p.Asn4105=) c.12309C= (p.Asn4103=) c.12285C= (p.Asn4095=) c.12108C= (p.Asn4036=) c.12252C= (p.Asn4084=) c.12324C= (p.Asn4108=) | |
1 | g.237784003C>G | CA345412901 | RYR2 | c.*3383C>G (n.*3383C>G) c.12279C>G (p.Asn4093Lys) c.12312C>G (p.Asn4104Lys) c.4468C>G c.12291C>G (p.Asn4097Lys) c.2344C>G c.12243C>G (p.Asn4081Lys) n.3486C>G c.12345C>G (p.Asn4115Lys) c.12342C>G (p.Asn4114Lys) c.12321C>G (p.Asn4107Lys) c.12315C>G (p.Asn4105Lys) c.12309C>G (p.Asn4103Lys) c.12285C>G (p.Asn4095Lys) c.12108C>G (p.Asn4036Lys) c.12252C>G (p.Asn4084Lys) c.12324C>G (p.Asn4108Lys) | |
1 | g.237784003C>T | CA085164 | RYR2 | c.*3383C>T (n.*3383C>T) c.12279C>T (p.Asn4093=) c.12312C>T (p.Asn4104=) c.4468C>T c.12291C>T (p.Asn4097=) c.2344C>T c.12243C>T (p.Asn4081=) n.3486C>T c.12345C>T (p.Asn4115=) c.12342C>T (p.Asn4114=) c.12321C>T (p.Asn4107=) c.12315C>T (p.Asn4105=) c.12309C>T (p.Asn4103=) c.12285C>T (p.Asn4095=) c.12108C>T (p.Asn4036=) c.12252C>T (p.Asn4084=) c.12324C>T (p.Asn4108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784004G>A | CA39827403 | RYR2 | c.*3384G>A (n.*3384G>A) c.12280G>A (p.Val4094Ile) c.12313G>A (p.Val4105Ile) c.4469G>A c.12292G>A (p.Val4098Ile) c.2345G>A c.12244G>A (p.Val4082Ile) n.3487G>A c.12346G>A (p.Val4116Ile) c.12343G>A (p.Val4115Ile) c.12322G>A (p.Val4108Ile) c.12316G>A (p.Val4106Ile) c.12310G>A (p.Val4104Ile) c.12286G>A (p.Val4096Ile) c.12109G>A (p.Val4037Ile) c.12253G>A (p.Val4085Ile) c.12325G>A (p.Val4109Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784004G>C | CA345412902 | RYR2 | c.*3384G>C (n.*3384G>C) c.12280G>C (p.Val4094Leu) c.12313G>C (p.Val4105Leu) c.4469G>C c.12292G>C (p.Val4098Leu) c.2345G>C c.12244G>C (p.Val4082Leu) n.3487G>C c.12346G>C (p.Val4116Leu) c.12343G>C (p.Val4115Leu) c.12322G>C (p.Val4108Leu) c.12316G>C (p.Val4106Leu) c.12310G>C (p.Val4104Leu) c.12286G>C (p.Val4096Leu) c.12109G>C (p.Val4037Leu) c.12253G>C (p.Val4085Leu) c.12325G>C (p.Val4109Leu) | |
1 | g.237784004G= | CA2487482351 | RYR2 | c.*3384G= (n.*3384G=) c.12280G= (p.Val4094=) c.12313G= (p.Val4105=) c.4469G= c.12292G= (p.Val4098=) c.2345G= c.12244G= (p.Val4082=) n.3487G= c.12346G= (p.Val4116=) c.12343G= (p.Val4115=) c.12322G= (p.Val4108=) c.12316G= (p.Val4106=) c.12310G= (p.Val4104=) c.12286G= (p.Val4096=) c.12109G= (p.Val4037=) c.12253G= (p.Val4085=) c.12325G= (p.Val4109=) | |
1 | g.237784004G>T | CA345412903 | RYR2 | c.*3384G>T (n.*3384G>T) c.12280G>T (p.Val4094Phe) c.12313G>T (p.Val4105Phe) c.4469G>T c.12292G>T (p.Val4098Phe) c.2345G>T c.12244G>T (p.Val4082Phe) n.3487G>T c.12346G>T (p.Val4116Phe) c.12343G>T (p.Val4115Phe) c.12322G>T (p.Val4108Phe) c.12316G>T (p.Val4106Phe) c.12310G>T (p.Val4104Phe) c.12286G>T (p.Val4096Phe) c.12109G>T (p.Val4037Phe) c.12253G>T (p.Val4085Phe) c.12325G>T (p.Val4109Phe) | COSMIC |
1 | g.237784005T>A | CA345412904 | RYR2 | c.*3385T>A (n.*3385T>A) c.12281T>A (p.Val4094Asp) c.12314T>A (p.Val4105Asp) c.4470T>A c.12293T>A (p.Val4098Asp) c.2346T>A c.12245T>A (p.Val4082Asp) n.3488T>A c.12347T>A (p.Val4116Asp) c.12344T>A (p.Val4115Asp) c.12323T>A (p.Val4108Asp) c.12317T>A (p.Val4106Asp) c.12311T>A (p.Val4104Asp) c.12287T>A (p.Val4096Asp) c.12110T>A (p.Val4037Asp) c.12254T>A (p.Val4085Asp) c.12326T>A (p.Val4109Asp) | |
1 | g.237784005T>C | CA345412905 | RYR2 | c.*3385T>C (n.*3385T>C) c.12281T>C (p.Val4094Ala) c.12314T>C (p.Val4105Ala) c.4470T>C c.12293T>C (p.Val4098Ala) c.2346T>C c.12245T>C (p.Val4082Ala) n.3488T>C c.12347T>C (p.Val4116Ala) c.12344T>C (p.Val4115Ala) c.12323T>C (p.Val4108Ala) c.12317T>C (p.Val4106Ala) c.12311T>C (p.Val4104Ala) c.12287T>C (p.Val4096Ala) c.12110T>C (p.Val4037Ala) c.12254T>C (p.Val4085Ala) c.12326T>C (p.Val4109Ala) | |
1 | g.237784005T>G | CA345412906 | RYR2 | c.*3385T>G (n.*3385T>G) c.12281T>G (p.Val4094Gly) c.12314T>G (p.Val4105Gly) c.4470T>G c.12293T>G (p.Val4098Gly) c.2346T>G c.12245T>G (p.Val4082Gly) n.3488T>G c.12347T>G (p.Val4116Gly) c.12344T>G (p.Val4115Gly) c.12323T>G (p.Val4108Gly) c.12317T>G (p.Val4106Gly) c.12311T>G (p.Val4104Gly) c.12287T>G (p.Val4096Gly) c.12110T>G (p.Val4037Gly) c.12254T>G (p.Val4085Gly) c.12326T>G (p.Val4109Gly) | |
1 | g.237784006C>A | CA424032113 | RYR2 | c.*3386C>A (n.*3386C>A) c.12282C>A (p.Val4094=) c.12315C>A (p.Val4105=) c.4471C>A c.12294C>A (p.Val4098=) c.2347C>A c.12246C>A (p.Val4082=) n.3489C>A c.12348C>A (p.Val4116=) c.12345C>A (p.Val4115=) c.12324C>A (p.Val4108=) c.12318C>A (p.Val4106=) c.12312C>A (p.Val4104=) c.12288C>A (p.Val4096=) c.12111C>A (p.Val4037=) c.12255C>A (p.Val4085=) c.12327C>A (p.Val4109=) | |
1 | g.237784006C= | CA1147853892 | RYR2 | c.*3386C= (n.*3386C=) c.12282C= (p.Val4094=) c.12315C= (p.Val4105=) c.4471C= c.12294C= (p.Val4098=) c.2347C= c.12246C= (p.Val4082=) n.3489C= c.12348C= (p.Val4116=) c.12345C= (p.Val4115=) c.12324C= (p.Val4108=) c.12318C= (p.Val4106=) c.12312C= (p.Val4104=) c.12288C= (p.Val4096=) c.12111C= (p.Val4037=) c.12255C= (p.Val4085=) c.12327C= (p.Val4109=) | |
1 | g.237784006C>G | CA424032114 | RYR2 | c.*3386C>G (n.*3386C>G) c.12282C>G (p.Val4094=) c.12315C>G (p.Val4105=) c.4471C>G c.12294C>G (p.Val4098=) c.2347C>G c.12246C>G (p.Val4082=) n.3489C>G c.12348C>G (p.Val4116=) c.12345C>G (p.Val4115=) c.12324C>G (p.Val4108=) c.12318C>G (p.Val4106=) c.12312C>G (p.Val4104=) c.12288C>G (p.Val4096=) c.12111C>G (p.Val4037=) c.12255C>G (p.Val4085=) c.12327C>G (p.Val4109=) | |
1 | g.237784006C>T | CA085165 | RYR2 | c.*3386C>T (n.*3386C>T) c.12282C>T (p.Val4094=) c.12315C>T (p.Val4105=) c.4471C>T c.12294C>T (p.Val4098=) c.2347C>T c.12246C>T (p.Val4082=) n.3489C>T c.12348C>T (p.Val4116=) c.12345C>T (p.Val4115=) c.12324C>T (p.Val4108=) c.12318C>T (p.Val4106=) c.12312C>T (p.Val4104=) c.12288C>T (p.Val4096=) c.12111C>T (p.Val4037=) c.12255C>T (p.Val4085=) c.12327C>T (p.Val4109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784007G>A | CA345412907 | RYR2 | c.*3387G>A (n.*3387G>A) c.12283G>A (p.Ala4095Thr) c.12316G>A (p.Ala4106Thr) c.4472G>A c.12295G>A (p.Ala4099Thr) c.2348G>A c.12247G>A (p.Ala4083Thr) n.3490G>A c.12349G>A (p.Ala4117Thr) c.12346G>A (p.Ala4116Thr) c.12325G>A (p.Ala4109Thr) c.12319G>A (p.Ala4107Thr) c.12313G>A (p.Ala4105Thr) c.12289G>A (p.Ala4097Thr) c.12112G>A (p.Ala4038Thr) c.12256G>A (p.Ala4086Thr) c.12328G>A (p.Ala4110Thr) | gnomAD v4 |
1 | g.237784007G>C | CA345412908 | RYR2 | c.*3387G>C (n.*3387G>C) c.12283G>C (p.Ala4095Pro) c.12316G>C (p.Ala4106Pro) c.4472G>C c.12295G>C (p.Ala4099Pro) c.2348G>C c.12247G>C (p.Ala4083Pro) n.3490G>C c.12349G>C (p.Ala4117Pro) c.12346G>C (p.Ala4116Pro) c.12325G>C (p.Ala4109Pro) c.12319G>C (p.Ala4107Pro) c.12313G>C (p.Ala4105Pro) c.12289G>C (p.Ala4097Pro) c.12112G>C (p.Ala4038Pro) c.12256G>C (p.Ala4086Pro) c.12328G>C (p.Ala4110Pro) | ClinVar |
1 | g.237784007G>T | CA345412909 | RYR2 | c.*3387G>T (n.*3387G>T) c.12283G>T (p.Ala4095Ser) c.12316G>T (p.Ala4106Ser) c.4472G>T c.12295G>T (p.Ala4099Ser) c.2348G>T c.12247G>T (p.Ala4083Ser) n.3490G>T c.12349G>T (p.Ala4117Ser) c.12346G>T (p.Ala4116Ser) c.12325G>T (p.Ala4109Ser) c.12319G>T (p.Ala4107Ser) c.12313G>T (p.Ala4105Ser) c.12289G>T (p.Ala4097Ser) c.12112G>T (p.Ala4038Ser) c.12256G>T (p.Ala4086Ser) c.12328G>T (p.Ala4110Ser) | |
1 | g.237784008C>A | CA345412910 | RYR2 | c.*3388C>A (n.*3388C>A) c.12284C>A (p.Ala4095Asp) c.12317C>A (p.Ala4106Asp) c.4473C>A c.12296C>A (p.Ala4099Asp) c.2349C>A c.12248C>A (p.Ala4083Asp) n.3491C>A c.12350C>A (p.Ala4117Asp) c.12347C>A (p.Ala4116Asp) c.12326C>A (p.Ala4109Asp) c.12320C>A (p.Ala4107Asp) c.12314C>A (p.Ala4105Asp) c.12290C>A (p.Ala4097Asp) c.12113C>A (p.Ala4038Asp) c.12257C>A (p.Ala4086Asp) c.12329C>A (p.Ala4110Asp) | |
1 | g.237784008C= | CA2487482352 | RYR2 | c.*3388C= (n.*3388C=) c.12284C= (p.Ala4095=) c.12317C= (p.Ala4106=) c.4473C= c.12296C= (p.Ala4099=) c.2349C= c.12248C= (p.Ala4083=) n.3491C= c.12350C= (p.Ala4117=) c.12347C= (p.Ala4116=) c.12326C= (p.Ala4109=) c.12320C= (p.Ala4107=) c.12314C= (p.Ala4105=) c.12290C= (p.Ala4097=) c.12113C= (p.Ala4038=) c.12257C= (p.Ala4086=) c.12329C= (p.Ala4110=) | |
1 | g.237784008C>G | CA345412912 | RYR2 | c.*3388C>G (n.*3388C>G) c.12284C>G (p.Ala4095Gly) c.12317C>G (p.Ala4106Gly) c.4473C>G c.12296C>G (p.Ala4099Gly) c.2349C>G c.12248C>G (p.Ala4083Gly) n.3491C>G c.12350C>G (p.Ala4117Gly) c.12347C>G (p.Ala4116Gly) c.12326C>G (p.Ala4109Gly) c.12320C>G (p.Ala4107Gly) c.12314C>G (p.Ala4105Gly) c.12290C>G (p.Ala4097Gly) c.12113C>G (p.Ala4038Gly) c.12257C>G (p.Ala4086Gly) c.12329C>G (p.Ala4110Gly) | |
1 | g.237784008C>T | CA345412911 | RYR2 | c.*3388C>T (n.*3388C>T) c.12284C>T (p.Ala4095Val) c.12317C>T (p.Ala4106Val) c.4473C>T c.12296C>T (p.Ala4099Val) c.2349C>T c.12248C>T (p.Ala4083Val) n.3491C>T c.12350C>T (p.Ala4117Val) c.12347C>T (p.Ala4116Val) c.12326C>T (p.Ala4109Val) c.12320C>T (p.Ala4107Val) c.12314C>T (p.Ala4105Val) c.12290C>T (p.Ala4097Val) c.12113C>T (p.Ala4038Val) c.12257C>T (p.Ala4086Val) c.12329C>T (p.Ala4110Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784009C>A | CA424032118 | RYR2 | c.*3389C>A (n.*3389C>A) c.12285C>A (p.Ala4095=) c.12318C>A (p.Ala4106=) c.4474C>A c.12297C>A (p.Ala4099=) c.2350C>A c.12249C>A (p.Ala4083=) n.3492C>A c.12351C>A (p.Ala4117=) c.12348C>A (p.Ala4116=) c.12327C>A (p.Ala4109=) c.12321C>A (p.Ala4107=) c.12315C>A (p.Ala4105=) c.12291C>A (p.Ala4097=) c.12114C>A (p.Ala4038=) c.12258C>A (p.Ala4086=) c.12330C>A (p.Ala4110=) | |
1 | g.237784009C= | CA1143699438 | RYR2 | c.*3389C= (n.*3389C=) c.12285C= (p.Ala4095=) c.12318C= (p.Ala4106=) c.4474C= c.12297C= (p.Ala4099=) c.2350C= c.12249C= (p.Ala4083=) n.3492C= c.12351C= (p.Ala4117=) c.12348C= (p.Ala4116=) c.12327C= (p.Ala4109=) c.12321C= (p.Ala4107=) c.12315C= (p.Ala4105=) c.12291C= (p.Ala4097=) c.12114C= (p.Ala4038=) c.12258C= (p.Ala4086=) c.12330C= (p.Ala4110=) | |
1 | g.237784009C>G | CA424032121 | RYR2 | c.*3389C>G (n.*3389C>G) c.12285C>G (p.Ala4095=) c.12318C>G (p.Ala4106=) c.4474C>G c.12297C>G (p.Ala4099=) c.2350C>G c.12249C>G (p.Ala4083=) n.3492C>G c.12351C>G (p.Ala4117=) c.12348C>G (p.Ala4116=) c.12327C>G (p.Ala4109=) c.12321C>G (p.Ala4107=) c.12315C>G (p.Ala4105=) c.12291C>G (p.Ala4097=) c.12114C>G (p.Ala4038=) c.12258C>G (p.Ala4086=) c.12330C>G (p.Ala4110=) | ClinVar |
1 | g.237784009C>T | CA39827423 | RYR2 | c.*3389C>T (n.*3389C>T) c.12285C>T (p.Ala4095=) c.12318C>T (p.Ala4106=) c.4474C>T c.12297C>T (p.Ala4099=) c.2350C>T c.12249C>T (p.Ala4083=) n.3492C>T c.12351C>T (p.Ala4117=) c.12348C>T (p.Ala4116=) c.12327C>T (p.Ala4109=) c.12321C>T (p.Ala4107=) c.12315C>T (p.Ala4105=) c.12291C>T (p.Ala4097=) c.12114C>T (p.Ala4038=) c.12258C>T (p.Ala4086=) c.12330C>T (p.Ala4110=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.237784010G>A | CA007445 | RYR2 | c.*3390G>A (n.*3390G>A) c.12286G>A (p.Val4096Ile) c.12319G>A (p.Val4107Ile) c.4475G>A c.12298G>A (p.Val4100Ile) c.2351G>A c.12250G>A (p.Val4084Ile) n.3493G>A c.12352G>A (p.Val4118Ile) c.12349G>A (p.Val4117Ile) c.12328G>A (p.Val4110Ile) c.12322G>A (p.Val4108Ile) c.12316G>A (p.Val4106Ile) c.12292G>A (p.Val4098Ile) c.12115G>A (p.Val4039Ile) c.12259G>A (p.Val4087Ile) c.12331G>A (p.Val4111Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784010G>C | CA345412913 | RYR2 | c.*3390G>C (n.*3390G>C) c.12286G>C (p.Val4096Leu) c.12319G>C (p.Val4107Leu) c.4475G>C c.12298G>C (p.Val4100Leu) c.2351G>C c.12250G>C (p.Val4084Leu) n.3493G>C c.12352G>C (p.Val4118Leu) c.12349G>C (p.Val4117Leu) c.12328G>C (p.Val4110Leu) c.12322G>C (p.Val4108Leu) c.12316G>C (p.Val4106Leu) c.12292G>C (p.Val4098Leu) c.12115G>C (p.Val4039Leu) c.12259G>C (p.Val4087Leu) c.12331G>C (p.Val4111Leu) | |
1 | g.237784010G= | CA2487482353 | RYR2 | c.*3390G= (n.*3390G=) c.12286G= (p.Val4096=) c.12319G= (p.Val4107=) c.4475G= c.12298G= (p.Val4100=) c.2351G= c.12250G= (p.Val4084=) n.3493G= c.12352G= (p.Val4118=) c.12349G= (p.Val4117=) c.12328G= (p.Val4110=) c.12322G= (p.Val4108=) c.12316G= (p.Val4106=) c.12292G= (p.Val4098=) c.12115G= (p.Val4039=) c.12259G= (p.Val4087=) c.12331G= (p.Val4111=) | |
1 | g.237784010G>T | CA345412914 | RYR2 | c.*3390G>T (n.*3390G>T) c.12286G>T (p.Val4096Phe) c.12319G>T (p.Val4107Phe) c.4475G>T c.12298G>T (p.Val4100Phe) c.2351G>T c.12250G>T (p.Val4084Phe) n.3493G>T c.12352G>T (p.Val4118Phe) c.12349G>T (p.Val4117Phe) c.12328G>T (p.Val4110Phe) c.12322G>T (p.Val4108Phe) c.12316G>T (p.Val4106Phe) c.12292G>T (p.Val4098Phe) c.12115G>T (p.Val4039Phe) c.12259G>T (p.Val4087Phe) c.12331G>T (p.Val4111Phe) | |
1 | g.237784011T>A | CA345412915 | RYR2 | c.*3391T>A (n.*3391T>A) c.12287T>A (p.Val4096Asp) c.12320T>A (p.Val4107Asp) c.4476T>A c.12299T>A (p.Val4100Asp) c.2352T>A c.12251T>A (p.Val4084Asp) n.3494T>A c.12353T>A (p.Val4118Asp) c.12350T>A (p.Val4117Asp) c.12329T>A (p.Val4110Asp) c.12323T>A (p.Val4108Asp) c.12317T>A (p.Val4106Asp) c.12293T>A (p.Val4098Asp) c.12116T>A (p.Val4039Asp) c.12260T>A (p.Val4087Asp) c.12332T>A (p.Val4111Asp) | |
1 | g.237784011T>C | CA345412916 | RYR2 | c.*3391T>C (n.*3391T>C) c.12287T>C (p.Val4096Ala) c.12320T>C (p.Val4107Ala) c.4476T>C c.12299T>C (p.Val4100Ala) c.2352T>C c.12251T>C (p.Val4084Ala) n.3494T>C c.12353T>C (p.Val4118Ala) c.12350T>C (p.Val4117Ala) c.12329T>C (p.Val4110Ala) c.12323T>C (p.Val4108Ala) c.12317T>C (p.Val4106Ala) c.12293T>C (p.Val4098Ala) c.12116T>C (p.Val4039Ala) c.12260T>C (p.Val4087Ala) c.12332T>C (p.Val4111Ala) | |
1 | g.237784011T>G | CA345412917 | RYR2 | c.*3391T>G (n.*3391T>G) c.12287T>G (p.Val4096Gly) c.12320T>G (p.Val4107Gly) c.4476T>G c.12299T>G (p.Val4100Gly) c.2352T>G c.12251T>G (p.Val4084Gly) n.3494T>G c.12353T>G (p.Val4118Gly) c.12350T>G (p.Val4117Gly) c.12329T>G (p.Val4110Gly) c.12323T>G (p.Val4108Gly) c.12317T>G (p.Val4106Gly) c.12293T>G (p.Val4098Gly) c.12116T>G (p.Val4039Gly) c.12260T>G (p.Val4087Gly) c.12332T>G (p.Val4111Gly) | |
1 | g.237784012C>A | CA424032122 | RYR2 | c.*3392C>A (n.*3392C>A) c.12288C>A (p.Val4096=) c.12321C>A (p.Val4107=) c.4477C>A c.12300C>A (p.Val4100=) c.2353C>A c.12252C>A (p.Val4084=) n.3495C>A c.12354C>A (p.Val4118=) c.12351C>A (p.Val4117=) c.12330C>A (p.Val4110=) c.12324C>A (p.Val4108=) c.12318C>A (p.Val4106=) c.12294C>A (p.Val4098=) c.12117C>A (p.Val4039=) c.12261C>A (p.Val4087=) c.12333C>A (p.Val4111=) | |
1 | g.237784012C= | CA2487482354 | RYR2 | c.*3392C= (n.*3392C=) c.12288C= (p.Val4096=) c.12321C= (p.Val4107=) c.4477C= c.12300C= (p.Val4100=) c.2353C= c.12252C= (p.Val4084=) n.3495C= c.12354C= (p.Val4118=) c.12351C= (p.Val4117=) c.12330C= (p.Val4110=) c.12324C= (p.Val4108=) c.12318C= (p.Val4106=) c.12294C= (p.Val4098=) c.12117C= (p.Val4039=) c.12261C= (p.Val4087=) c.12333C= (p.Val4111=) | |
1 | g.237784012C>G | CA085166 | RYR2 | c.*3392C>G (n.*3392C>G) c.12288C>G (p.Val4096=) c.12321C>G (p.Val4107=) c.4477C>G c.12300C>G (p.Val4100=) c.2353C>G c.12252C>G (p.Val4084=) n.3495C>G c.12354C>G (p.Val4118=) c.12351C>G (p.Val4117=) c.12330C>G (p.Val4110=) c.12324C>G (p.Val4108=) c.12318C>G (p.Val4106=) c.12294C>G (p.Val4098=) c.12117C>G (p.Val4039=) c.12261C>G (p.Val4087=) c.12333C>G (p.Val4111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784012C>T | CA066360 | RYR2 | c.*3392C>T (n.*3392C>T) c.12288C>T (p.Val4096=) c.12321C>T (p.Val4107=) c.4477C>T c.12300C>T (p.Val4100=) c.2353C>T c.12252C>T (p.Val4084=) n.3495C>T c.12354C>T (p.Val4118=) c.12351C>T (p.Val4117=) c.12330C>T (p.Val4110=) c.12324C>T (p.Val4108=) c.12318C>T (p.Val4106=) c.12294C>T (p.Val4098=) c.12117C>T (p.Val4039=) c.12261C>T (p.Val4087=) c.12333C>T (p.Val4111=) | |
1 | g.237784013C>A | CA345412918 | RYR2 | c.*3393C>A (n.*3393C>A) c.12289C>A (p.Leu4097Ile) c.12322C>A (p.Leu4108Ile) c.4478C>A c.12301C>A (p.Leu4101Ile) c.2354C>A c.12253C>A (p.Leu4085Ile) n.3496C>A c.12355C>A (p.Leu4119Ile) c.12352C>A (p.Leu4118Ile) c.12331C>A (p.Leu4111Ile) c.12325C>A (p.Leu4109Ile) c.12319C>A (p.Leu4107Ile) c.12295C>A (p.Leu4099Ile) c.12118C>A (p.Leu4040Ile) c.12262C>A (p.Leu4088Ile) c.12334C>A (p.Leu4112Ile) | gnomAD v4 COSMIC COSMIC |
1 | g.237784013C= | CA2487482355 | RYR2 | c.*3393C= (n.*3393C=) c.12289C= (p.Leu4097=) c.12322C= (p.Leu4108=) c.4478C= c.12301C= (p.Leu4101=) c.2354C= c.12253C= (p.Leu4085=) n.3496C= c.12355C= (p.Leu4119=) c.12352C= (p.Leu4118=) c.12331C= (p.Leu4111=) c.12325C= (p.Leu4109=) c.12319C= (p.Leu4107=) c.12295C= (p.Leu4099=) c.12118C= (p.Leu4040=) c.12262C= (p.Leu4088=) c.12334C= (p.Leu4112=) | |
1 | g.237784013C>G | CA345412919 | RYR2 | c.*3393C>G (n.*3393C>G) c.12289C>G (p.Leu4097Val) c.12322C>G (p.Leu4108Val) c.4478C>G c.12301C>G (p.Leu4101Val) c.2354C>G c.12253C>G (p.Leu4085Val) n.3496C>G c.12355C>G (p.Leu4119Val) c.12352C>G (p.Leu4118Val) c.12331C>G (p.Leu4111Val) c.12325C>G (p.Leu4109Val) c.12319C>G (p.Leu4107Val) c.12295C>G (p.Leu4099Val) c.12118C>G (p.Leu4040Val) c.12262C>G (p.Leu4088Val) c.12334C>G (p.Leu4112Val) | |
1 | g.237784013C>T | CA007454 | RYR2 | c.*3393C>T (n.*3393C>T) c.12289C>T (p.Leu4097Phe) c.12322C>T (p.Leu4108Phe) c.4478C>T c.12301C>T (p.Leu4101Phe) c.2354C>T c.12253C>T (p.Leu4085Phe) n.3496C>T c.12355C>T (p.Leu4119Phe) c.12352C>T (p.Leu4118Phe) c.12331C>T (p.Leu4111Phe) c.12325C>T (p.Leu4109Phe) c.12319C>T (p.Leu4107Phe) c.12295C>T (p.Leu4099Phe) c.12118C>T (p.Leu4040Phe) c.12262C>T (p.Leu4088Phe) c.12334C>T (p.Leu4112Phe) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784014T>A | CA345412920 | RYR2 | c.*3394T>A (n.*3394T>A) c.12290T>A (p.Leu4097His) c.12323T>A (p.Leu4108His) c.4479T>A c.12302T>A (p.Leu4101His) c.2355T>A c.12254T>A (p.Leu4085His) n.3497T>A c.12356T>A (p.Leu4119His) c.12353T>A (p.Leu4118His) c.12332T>A (p.Leu4111His) c.12326T>A (p.Leu4109His) c.12320T>A (p.Leu4107His) c.12296T>A (p.Leu4099His) c.12119T>A (p.Leu4040His) c.12263T>A (p.Leu4088His) c.12335T>A (p.Leu4112His) | |
1 | g.237784014T>C | CA345412921 | RYR2 | c.*3394T>C (n.*3394T>C) c.12290T>C (p.Leu4097Pro) c.12323T>C (p.Leu4108Pro) c.4479T>C c.12302T>C (p.Leu4101Pro) c.2355T>C c.12254T>C (p.Leu4085Pro) n.3497T>C c.12356T>C (p.Leu4119Pro) c.12353T>C (p.Leu4118Pro) c.12332T>C (p.Leu4111Pro) c.12326T>C (p.Leu4109Pro) c.12320T>C (p.Leu4107Pro) c.12296T>C (p.Leu4099Pro) c.12119T>C (p.Leu4040Pro) c.12263T>C (p.Leu4088Pro) c.12335T>C (p.Leu4112Pro) | |
1 | g.237784014T>G | CA345412922 | RYR2 | c.*3394T>G (n.*3394T>G) c.12290T>G (p.Leu4097Arg) c.12323T>G (p.Leu4108Arg) c.4479T>G c.12302T>G (p.Leu4101Arg) c.2355T>G c.12254T>G (p.Leu4085Arg) n.3497T>G c.12356T>G (p.Leu4119Arg) c.12353T>G (p.Leu4118Arg) c.12332T>G (p.Leu4111Arg) c.12326T>G (p.Leu4109Arg) c.12320T>G (p.Leu4107Arg) c.12296T>G (p.Leu4099Arg) c.12119T>G (p.Leu4040Arg) c.12263T>G (p.Leu4088Arg) c.12335T>G (p.Leu4112Arg) | gnomAD v4 |
1 | g.237784015T>A | CA424032126 | RYR2 | c.*3395T>A (n.*3395T>A) c.12291T>A (p.Leu4097=) c.12324T>A (p.Leu4108=) c.4480T>A c.12303T>A (p.Leu4101=) c.2356T>A c.12255T>A (p.Leu4085=) n.3498T>A c.12357T>A (p.Leu4119=) c.12354T>A (p.Leu4118=) c.12333T>A (p.Leu4111=) c.12327T>A (p.Leu4109=) c.12321T>A (p.Leu4107=) c.12297T>A (p.Leu4099=) c.12120T>A (p.Leu4040=) c.12264T>A (p.Leu4088=) c.12336T>A (p.Leu4112=) | |
1 | g.237784015T>C | CA424032127 | RYR2 | c.*3395T>C (n.*3395T>C) c.12291T>C (p.Leu4097=) c.12324T>C (p.Leu4108=) c.4480T>C c.12303T>C (p.Leu4101=) c.2356T>C c.12255T>C (p.Leu4085=) n.3498T>C c.12357T>C (p.Leu4119=) c.12354T>C (p.Leu4118=) c.12333T>C (p.Leu4111=) c.12327T>C (p.Leu4109=) c.12321T>C (p.Leu4107=) c.12297T>C (p.Leu4099=) c.12120T>C (p.Leu4040=) c.12264T>C (p.Leu4088=) c.12336T>C (p.Leu4112=) | gnomAD v4 |
1 | g.237784015T>G | CA424032128 | RYR2 | c.*3395T>G (n.*3395T>G) c.12291T>G (p.Leu4097=) c.12324T>G (p.Leu4108=) c.4480T>G c.12303T>G (p.Leu4101=) c.2356T>G c.12255T>G (p.Leu4085=) n.3498T>G c.12357T>G (p.Leu4119=) c.12354T>G (p.Leu4118=) c.12333T>G (p.Leu4111=) c.12327T>G (p.Leu4109=) c.12321T>G (p.Leu4107=) c.12297T>G (p.Leu4099=) c.12120T>G (p.Leu4040=) c.12264T>G (p.Leu4088=) c.12336T>G (p.Leu4112=) | |
1 | g.237784016C>A | CA345412923 | RYR2 | c.*3396C>A (n.*3396C>A) c.12292C>A (p.Leu4098Met) c.12325C>A (p.Leu4109Met) c.4481C>A c.12304C>A (p.Leu4102Met) c.2357C>A c.12256C>A (p.Leu4086Met) n.3499C>A c.12358C>A (p.Leu4120Met) c.12355C>A (p.Leu4119Met) c.12334C>A (p.Leu4112Met) c.12328C>A (p.Leu4110Met) c.12322C>A (p.Leu4108Met) c.12298C>A (p.Leu4100Met) c.12121C>A (p.Leu4041Met) c.12265C>A (p.Leu4089Met) c.12337C>A (p.Leu4113Met) | |
1 | g.237784016C>G | CA345412924 | RYR2 | c.*3396C>G (n.*3396C>G) c.12292C>G (p.Leu4098Val) c.12325C>G (p.Leu4109Val) c.4481C>G c.12304C>G (p.Leu4102Val) c.2357C>G c.12256C>G (p.Leu4086Val) n.3499C>G c.12358C>G (p.Leu4120Val) c.12355C>G (p.Leu4119Val) c.12334C>G (p.Leu4112Val) c.12328C>G (p.Leu4110Val) c.12322C>G (p.Leu4108Val) c.12298C>G (p.Leu4100Val) c.12121C>G (p.Leu4041Val) c.12265C>G (p.Leu4089Val) c.12337C>G (p.Leu4113Val) | |
1 | g.237784016C>T | CA424032130 | RYR2 | c.*3396C>T (n.*3396C>T) c.12292C>T (p.Leu4098=) c.12325C>T (p.Leu4109=) c.4481C>T c.12304C>T (p.Leu4102=) c.2357C>T c.12256C>T (p.Leu4086=) n.3499C>T c.12358C>T (p.Leu4120=) c.12355C>T (p.Leu4119=) c.12334C>T (p.Leu4112=) c.12328C>T (p.Leu4110=) c.12322C>T (p.Leu4108=) c.12298C>T (p.Leu4100=) c.12121C>T (p.Leu4041=) c.12265C>T (p.Leu4089=) c.12337C>T (p.Leu4113=) | |
1 | g.237784017T>A | CA345412925 | RYR2 | c.*3397T>A (n.*3397T>A) c.12293T>A (p.Leu4098Gln) c.12326T>A (p.Leu4109Gln) c.4482T>A c.12305T>A (p.Leu4102Gln) c.2358T>A c.12257T>A (p.Leu4086Gln) n.3500T>A c.12359T>A (p.Leu4120Gln) c.12356T>A (p.Leu4119Gln) c.12335T>A (p.Leu4112Gln) c.12329T>A (p.Leu4110Gln) c.12323T>A (p.Leu4108Gln) c.12299T>A (p.Leu4100Gln) c.12122T>A (p.Leu4041Gln) c.12266T>A (p.Leu4089Gln) c.12338T>A (p.Leu4113Gln) | |
1 | g.237784017T>C | CA345412926 | RYR2 | c.*3397T>C (n.*3397T>C) c.12293T>C (p.Leu4098Pro) c.12326T>C (p.Leu4109Pro) c.4482T>C c.12305T>C (p.Leu4102Pro) c.2358T>C c.12257T>C (p.Leu4086Pro) n.3500T>C c.12359T>C (p.Leu4120Pro) c.12356T>C (p.Leu4119Pro) c.12335T>C (p.Leu4112Pro) c.12329T>C (p.Leu4110Pro) c.12323T>C (p.Leu4108Pro) c.12299T>C (p.Leu4100Pro) c.12122T>C (p.Leu4041Pro) c.12266T>C (p.Leu4089Pro) c.12338T>C (p.Leu4113Pro) | |
1 | g.237784017T>G | CA345412927 | RYR2 | c.*3397T>G (n.*3397T>G) c.12293T>G (p.Leu4098Arg) c.12326T>G (p.Leu4109Arg) c.4482T>G c.12305T>G (p.Leu4102Arg) c.2358T>G c.12257T>G (p.Leu4086Arg) n.3500T>G c.12359T>G (p.Leu4120Arg) c.12356T>G (p.Leu4119Arg) c.12335T>G (p.Leu4112Arg) c.12329T>G (p.Leu4110Arg) c.12323T>G (p.Leu4108Arg) c.12299T>G (p.Leu4100Arg) c.12122T>G (p.Leu4041Arg) c.12266T>G (p.Leu4089Arg) c.12338T>G (p.Leu4113Arg) | |
1 | g.237784018G>A | CA424032134 | RYR2 | c.*3398G>A (n.*3398G>A) c.12294G>A (p.Leu4098=) c.12327G>A (p.Leu4109=) c.4483G>A c.12306G>A (p.Leu4102=) c.2359G>A c.12258G>A (p.Leu4086=) n.3501G>A c.12360G>A (p.Leu4120=) c.12357G>A (p.Leu4119=) c.12336G>A (p.Leu4112=) c.12330G>A (p.Leu4110=) c.12324G>A (p.Leu4108=) c.12300G>A (p.Leu4100=) c.12123G>A (p.Leu4041=) c.12267G>A (p.Leu4089=) c.12339G>A (p.Leu4113=) | |
1 | g.237784018G>C | CA424032135 | RYR2 | c.*3398G>C (n.*3398G>C) c.12294G>C (p.Leu4098=) c.12327G>C (p.Leu4109=) c.4483G>C c.12306G>C (p.Leu4102=) c.2359G>C c.12258G>C (p.Leu4086=) n.3501G>C c.12360G>C (p.Leu4120=) c.12357G>C (p.Leu4119=) c.12336G>C (p.Leu4112=) c.12330G>C (p.Leu4110=) c.12324G>C (p.Leu4108=) c.12300G>C (p.Leu4100=) c.12123G>C (p.Leu4041=) c.12267G>C (p.Leu4089=) c.12339G>C (p.Leu4113=) | |
1 | g.237784018G>T | CA424032136 | RYR2 | c.*3398G>T (n.*3398G>T) c.12294G>T (p.Leu4098=) c.12327G>T (p.Leu4109=) c.4483G>T c.12306G>T (p.Leu4102=) c.2359G>T c.12258G>T (p.Leu4086=) n.3501G>T c.12360G>T (p.Leu4120=) c.12357G>T (p.Leu4119=) c.12336G>T (p.Leu4112=) c.12330G>T (p.Leu4110=) c.12324G>T (p.Leu4108=) c.12300G>T (p.Leu4100=) c.12123G>T (p.Leu4041=) c.12267G>T (p.Leu4089=) c.12339G>T (p.Leu4113=) | |
1 | g.237784019A>C | CA345412928 | RYR2 | c.*3399A>C (n.*3399A>C) c.12295A>C (p.Thr4099Pro) c.12328A>C (p.Thr4110Pro) c.4484A>C c.12307A>C (p.Thr4103Pro) c.2360A>C c.12259A>C (p.Thr4087Pro) n.3502A>C c.12361A>C (p.Thr4121Pro) c.12358A>C (p.Thr4120Pro) c.12337A>C (p.Thr4113Pro) c.12331A>C (p.Thr4111Pro) c.12325A>C (p.Thr4109Pro) c.12301A>C (p.Thr4101Pro) c.12124A>C (p.Thr4042Pro) c.12268A>C (p.Thr4090Pro) c.12340A>C (p.Thr4114Pro) | |
1 | g.237784019A>G | CA345412929 | RYR2 | c.*3399A>G (n.*3399A>G) c.12295A>G (p.Thr4099Ala) c.12328A>G (p.Thr4110Ala) c.4484A>G c.12307A>G (p.Thr4103Ala) c.2360A>G c.12259A>G (p.Thr4087Ala) n.3502A>G c.12361A>G (p.Thr4121Ala) c.12358A>G (p.Thr4120Ala) c.12337A>G (p.Thr4113Ala) c.12331A>G (p.Thr4111Ala) c.12325A>G (p.Thr4109Ala) c.12301A>G (p.Thr4101Ala) c.12124A>G (p.Thr4042Ala) c.12268A>G (p.Thr4090Ala) c.12340A>G (p.Thr4114Ala) | |
1 | g.237784019A>T | CA345412930 | RYR2 | c.*3399A>T (n.*3399A>T) c.12295A>T (p.Thr4099Ser) c.12328A>T (p.Thr4110Ser) c.4484A>T c.12307A>T (p.Thr4103Ser) c.2360A>T c.12259A>T (p.Thr4087Ser) n.3502A>T c.12361A>T (p.Thr4121Ser) c.12358A>T (p.Thr4120Ser) c.12337A>T (p.Thr4113Ser) c.12331A>T (p.Thr4111Ser) c.12325A>T (p.Thr4109Ser) c.12301A>T (p.Thr4101Ser) c.12124A>T (p.Thr4042Ser) c.12268A>T (p.Thr4090Ser) c.12340A>T (p.Thr4114Ser) | |
1 | g.237784020C>A | CA345412931 | RYR2 | c.*3400C>A (n.*3400C>A) c.12296C>A (p.Thr4099Lys) c.12329C>A (p.Thr4110Lys) c.4485C>A c.12308C>A (p.Thr4103Lys) c.2361C>A c.12260C>A (p.Thr4087Lys) n.3503C>A c.12362C>A (p.Thr4121Lys) c.12359C>A (p.Thr4120Lys) c.12338C>A (p.Thr4113Lys) c.12332C>A (p.Thr4111Lys) c.12326C>A (p.Thr4109Lys) c.12302C>A (p.Thr4101Lys) c.12125C>A (p.Thr4042Lys) c.12269C>A (p.Thr4090Lys) c.12341C>A (p.Thr4114Lys) | |
1 | g.237784020C= | CA2487482356 | RYR2 | c.*3400C= (n.*3400C=) c.12296C= (p.Thr4099=) c.12329C= (p.Thr4110=) c.4485C= c.12308C= (p.Thr4103=) c.2361C= c.12260C= (p.Thr4087=) n.3503C= c.12362C= (p.Thr4121=) c.12359C= (p.Thr4120=) c.12338C= (p.Thr4113=) c.12332C= (p.Thr4111=) c.12326C= (p.Thr4109=) c.12302C= (p.Thr4101=) c.12125C= (p.Thr4042=) c.12269C= (p.Thr4090=) c.12341C= (p.Thr4114=) | |
1 | g.237784020C>G | CA345412932 | RYR2 | c.*3400C>G (n.*3400C>G) c.12296C>G (p.Thr4099Arg) c.12329C>G (p.Thr4110Arg) c.4485C>G c.12308C>G (p.Thr4103Arg) c.2361C>G c.12260C>G (p.Thr4087Arg) n.3503C>G c.12362C>G (p.Thr4121Arg) c.12359C>G (p.Thr4120Arg) c.12338C>G (p.Thr4113Arg) c.12332C>G (p.Thr4111Arg) c.12326C>G (p.Thr4109Arg) c.12302C>G (p.Thr4101Arg) c.12125C>G (p.Thr4042Arg) c.12269C>G (p.Thr4090Arg) c.12341C>G (p.Thr4114Arg) | dbSNP gnomAD v2 |
1 | g.237784020C>T | CA345412933 | RYR2 | c.*3400C>T (n.*3400C>T) c.12296C>T (p.Thr4099Ile) c.12329C>T (p.Thr4110Ile) c.4485C>T c.12308C>T (p.Thr4103Ile) c.2361C>T c.12260C>T (p.Thr4087Ile) n.3503C>T c.12362C>T (p.Thr4121Ile) c.12359C>T (p.Thr4120Ile) c.12338C>T (p.Thr4113Ile) c.12332C>T (p.Thr4111Ile) c.12326C>T (p.Thr4109Ile) c.12302C>T (p.Thr4101Ile) c.12125C>T (p.Thr4042Ile) c.12269C>T (p.Thr4090Ile) c.12341C>T (p.Thr4114Ile) | |
1 | g.237784021A>C | CA424032138 | RYR2 | c.*3401A>C (n.*3401A>C) c.12297A>C (p.Thr4099=) c.12330A>C (p.Thr4110=) c.4486A>C c.12309A>C (p.Thr4103=) c.2362A>C c.12261A>C (p.Thr4087=) n.3504A>C c.12363A>C (p.Thr4121=) c.12360A>C (p.Thr4120=) c.12339A>C (p.Thr4113=) c.12333A>C (p.Thr4111=) c.12327A>C (p.Thr4109=) c.12303A>C (p.Thr4101=) c.12126A>C (p.Thr4042=) c.12270A>C (p.Thr4090=) c.12342A>C (p.Thr4114=) | |
1 | g.237784021A>G | CA066373 | RYR2 | c.*3401A>G (n.*3401A>G) c.12297A>G (p.Thr4099=) c.12330A>G (p.Thr4110=) c.4486A>G c.12309A>G (p.Thr4103=) c.2362A>G c.12261A>G (p.Thr4087=) n.3504A>G c.12363A>G (p.Thr4121=) c.12360A>G (p.Thr4120=) c.12339A>G (p.Thr4113=) c.12333A>G (p.Thr4111=) c.12327A>G (p.Thr4109=) c.12303A>G (p.Thr4101=) c.12126A>G (p.Thr4042=) c.12270A>G (p.Thr4090=) c.12342A>G (p.Thr4114=) | |
1 | g.237784021A>T | CA424032140 | RYR2 | c.*3401A>T (n.*3401A>T) c.12297A>T (p.Thr4099=) c.12330A>T (p.Thr4110=) c.4486A>T c.12309A>T (p.Thr4103=) c.2362A>T c.12261A>T (p.Thr4087=) n.3504A>T c.12363A>T (p.Thr4121=) c.12360A>T (p.Thr4120=) c.12339A>T (p.Thr4113=) c.12333A>T (p.Thr4111=) c.12327A>T (p.Thr4109=) c.12303A>T (p.Thr4101=) c.12126A>T (p.Thr4042=) c.12270A>T (p.Thr4090=) c.12342A>T (p.Thr4114=) | |
1 | g.237784022A>C | CA345412934 | RYR2 | c.*3402A>C (n.*3402A>C) c.12298A>C (p.Asn4100His) c.12331A>C (p.Asn4111His) c.4487A>C c.12310A>C (p.Asn4104His) c.2363A>C c.12262A>C (p.Asn4088His) n.3505A>C c.12364A>C (p.Asn4122His) c.12361A>C (p.Asn4121His) c.12340A>C (p.Asn4114His) c.12334A>C (p.Asn4112His) c.12328A>C (p.Asn4110His) c.12304A>C (p.Asn4102His) c.12127A>C (p.Asn4043His) c.12271A>C (p.Asn4091His) c.12343A>C (p.Asn4115His) | |
1 | g.237784022A>G | CA345412935 | RYR2 | c.*3402A>G (n.*3402A>G) c.12298A>G (p.Asn4100Asp) c.12331A>G (p.Asn4111Asp) c.4487A>G c.12310A>G (p.Asn4104Asp) c.2363A>G c.12262A>G (p.Asn4088Asp) n.3505A>G c.12364A>G (p.Asn4122Asp) c.12361A>G (p.Asn4121Asp) c.12340A>G (p.Asn4114Asp) c.12334A>G (p.Asn4112Asp) c.12328A>G (p.Asn4110Asp) c.12304A>G (p.Asn4102Asp) c.12127A>G (p.Asn4043Asp) c.12271A>G (p.Asn4091Asp) c.12343A>G (p.Asn4115Asp) | |
1 | g.237784022A>T | CA345412936 | RYR2 | c.*3402A>T (n.*3402A>T) c.12298A>T (p.Asn4100Tyr) c.12331A>T (p.Asn4111Tyr) c.4487A>T c.12310A>T (p.Asn4104Tyr) c.2363A>T c.12262A>T (p.Asn4088Tyr) n.3505A>T c.12364A>T (p.Asn4122Tyr) c.12361A>T (p.Asn4121Tyr) c.12340A>T (p.Asn4114Tyr) c.12334A>T (p.Asn4112Tyr) c.12328A>T (p.Asn4110Tyr) c.12304A>T (p.Asn4102Tyr) c.12127A>T (p.Asn4043Tyr) c.12271A>T (p.Asn4091Tyr) c.12343A>T (p.Asn4115Tyr) | |
1 | g.237784023A= | CA2487482357 | RYR2 | c.*3403A= (n.*3403A=) c.12299A= (p.Asn4100=) c.12332A= (p.Asn4111=) c.4488A= c.12311A= (p.Asn4104=) c.2364A= c.12263A= (p.Asn4088=) n.3506A= c.12365A= (p.Asn4122=) c.12362A= (p.Asn4121=) c.12341A= (p.Asn4114=) c.12335A= (p.Asn4112=) c.12329A= (p.Asn4110=) c.12305A= (p.Asn4102=) c.12128A= (p.Asn4043=) c.12272A= (p.Asn4091=) c.12344A= (p.Asn4115=) | |
1 | g.237784023A>C | CA345412939 | RYR2 | c.*3403A>C (n.*3403A>C) c.12299A>C (p.Asn4100Thr) c.12332A>C (p.Asn4111Thr) c.4488A>C c.12311A>C (p.Asn4104Thr) c.2364A>C c.12263A>C (p.Asn4088Thr) n.3506A>C c.12365A>C (p.Asn4122Thr) c.12362A>C (p.Asn4121Thr) c.12341A>C (p.Asn4114Thr) c.12335A>C (p.Asn4112Thr) c.12329A>C (p.Asn4110Thr) c.12305A>C (p.Asn4102Thr) c.12128A>C (p.Asn4043Thr) c.12272A>C (p.Asn4091Thr) c.12344A>C (p.Asn4115Thr) | |
1 | g.237784023A>G | CA345412938 | RYR2 | c.*3403A>G (n.*3403A>G) c.12299A>G (p.Asn4100Ser) c.12332A>G (p.Asn4111Ser) c.4488A>G c.12311A>G (p.Asn4104Ser) c.2364A>G c.12263A>G (p.Asn4088Ser) n.3506A>G c.12365A>G (p.Asn4122Ser) c.12362A>G (p.Asn4121Ser) c.12341A>G (p.Asn4114Ser) c.12335A>G (p.Asn4112Ser) c.12329A>G (p.Asn4110Ser) c.12305A>G (p.Asn4102Ser) c.12128A>G (p.Asn4043Ser) c.12272A>G (p.Asn4091Ser) c.12344A>G (p.Asn4115Ser) | |
1 | g.237784023A>T | CA345412937 | RYR2 | c.*3403A>T (n.*3403A>T) c.12299A>T (p.Asn4100Ile) c.12332A>T (p.Asn4111Ile) c.4488A>T c.12311A>T (p.Asn4104Ile) c.2364A>T c.12263A>T (p.Asn4088Ile) n.3506A>T c.12365A>T (p.Asn4122Ile) c.12362A>T (p.Asn4121Ile) c.12341A>T (p.Asn4114Ile) c.12335A>T (p.Asn4112Ile) c.12329A>T (p.Asn4110Ile) c.12305A>T (p.Asn4102Ile) c.12128A>T (p.Asn4043Ile) c.12272A>T (p.Asn4091Ile) c.12344A>T (p.Asn4115Ile) | dbSNP |
1 | g.237784024C>A | CA345412940 | RYR2 | c.*3404C>A (n.*3404C>A) c.12300C>A (p.Asn4100Lys) c.12333C>A (p.Asn4111Lys) c.4489C>A c.12312C>A (p.Asn4104Lys) c.2365C>A c.12264C>A (p.Asn4088Lys) n.3507C>A c.12366C>A (p.Asn4122Lys) c.12363C>A (p.Asn4121Lys) c.12342C>A (p.Asn4114Lys) c.12336C>A (p.Asn4112Lys) c.12330C>A (p.Asn4110Lys) c.12306C>A (p.Asn4102Lys) c.12129C>A (p.Asn4043Lys) c.12273C>A (p.Asn4091Lys) c.12345C>A (p.Asn4115Lys) | |
1 | g.237784024C= | CA1141581350 | RYR2 | c.*3404C= (n.*3404C=) c.12300C= (p.Asn4100=) c.12333C= (p.Asn4111=) c.4489C= c.12312C= (p.Asn4104=) c.2365C= c.12264C= (p.Asn4088=) n.3507C= c.12366C= (p.Asn4122=) c.12363C= (p.Asn4121=) c.12342C= (p.Asn4114=) c.12336C= (p.Asn4112=) c.12330C= (p.Asn4110=) c.12306C= (p.Asn4102=) c.12129C= (p.Asn4043=) c.12273C= (p.Asn4091=) c.12345C= (p.Asn4115=) | |
1 | g.237784024C>G | CA007463 | RYR2 | c.*3404C>G (n.*3404C>G) c.12300C>G (p.Asn4100Lys) c.12333C>G (p.Asn4111Lys) c.4489C>G c.12312C>G (p.Asn4104Lys) c.2365C>G c.12264C>G (p.Asn4088Lys) n.3507C>G c.12366C>G (p.Asn4122Lys) c.12363C>G (p.Asn4121Lys) c.12342C>G (p.Asn4114Lys) c.12336C>G (p.Asn4112Lys) c.12330C>G (p.Asn4110Lys) c.12306C>G (p.Asn4102Lys) c.12129C>G (p.Asn4043Lys) c.12273C>G (p.Asn4091Lys) c.12345C>G (p.Asn4115Lys) | ClinVar dbSNP |
1 | g.237784024C>T | CA424032143 | RYR2 | c.*3404C>T (n.*3404C>T) c.12300C>T (p.Asn4100=) c.12333C>T (p.Asn4111=) c.4489C>T c.12312C>T (p.Asn4104=) c.2365C>T c.12264C>T (p.Asn4088=) n.3507C>T c.12366C>T (p.Asn4122=) c.12363C>T (p.Asn4121=) c.12342C>T (p.Asn4114=) c.12336C>T (p.Asn4112=) c.12330C>T (p.Asn4110=) c.12306C>T (p.Asn4102=) c.12129C>T (p.Asn4043=) c.12273C>T (p.Asn4091=) c.12345C>T (p.Asn4115=) | |
1 | g.237784025C>A | CA345412941 | RYR2 | c.*3405C>A (n.*3405C>A) c.12301C>A (p.Leu4101Ile) c.12334C>A (p.Leu4112Ile) c.4490C>A c.12313C>A (p.Leu4105Ile) c.2366C>A c.12265C>A (p.Leu4089Ile) n.3508C>A c.12367C>A (p.Leu4123Ile) c.12364C>A (p.Leu4122Ile) c.12343C>A (p.Leu4115Ile) c.12337C>A (p.Leu4113Ile) c.12331C>A (p.Leu4111Ile) c.12307C>A (p.Leu4103Ile) c.12130C>A (p.Leu4044Ile) c.12274C>A (p.Leu4092Ile) c.12346C>A (p.Leu4116Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784025C= | CA2487482358 | RYR2 | c.*3405C= (n.*3405C=) c.12301C= (p.Leu4101=) c.12334C= (p.Leu4112=) c.4490C= c.12313C= (p.Leu4105=) c.2366C= c.12265C= (p.Leu4089=) n.3508C= c.12367C= (p.Leu4123=) c.12364C= (p.Leu4122=) c.12343C= (p.Leu4115=) c.12337C= (p.Leu4113=) c.12331C= (p.Leu4111=) c.12307C= (p.Leu4103=) c.12130C= (p.Leu4044=) c.12274C= (p.Leu4092=) c.12346C= (p.Leu4116=) | |
1 | g.237784025C>G | CA345412942 | RYR2 | c.*3405C>G (n.*3405C>G) c.12301C>G (p.Leu4101Val) c.12334C>G (p.Leu4112Val) c.4490C>G c.12313C>G (p.Leu4105Val) c.2366C>G c.12265C>G (p.Leu4089Val) n.3508C>G c.12367C>G (p.Leu4123Val) c.12364C>G (p.Leu4122Val) c.12343C>G (p.Leu4115Val) c.12337C>G (p.Leu4113Val) c.12331C>G (p.Leu4111Val) c.12307C>G (p.Leu4103Val) c.12130C>G (p.Leu4044Val) c.12274C>G (p.Leu4092Val) c.12346C>G (p.Leu4116Val) | |
1 | g.237784025C>T | CA345412943 | RYR2 | c.*3405C>T (n.*3405C>T) c.12301C>T (p.Leu4101Phe) c.12334C>T (p.Leu4112Phe) c.4490C>T c.12313C>T (p.Leu4105Phe) c.2366C>T c.12265C>T (p.Leu4089Phe) n.3508C>T c.12367C>T (p.Leu4123Phe) c.12364C>T (p.Leu4122Phe) c.12343C>T (p.Leu4115Phe) c.12337C>T (p.Leu4113Phe) c.12331C>T (p.Leu4111Phe) c.12307C>T (p.Leu4103Phe) c.12130C>T (p.Leu4044Phe) c.12274C>T (p.Leu4092Phe) c.12346C>T (p.Leu4116Phe) | ClinVar dbSNP |
1 | g.237784026T>A | CA345412944 | RYR2 | c.*3406T>A (n.*3406T>A) c.12302T>A (p.Leu4101His) c.12335T>A (p.Leu4112His) c.4491T>A c.12314T>A (p.Leu4105His) c.2367T>A c.12266T>A (p.Leu4089His) n.3509T>A c.12368T>A (p.Leu4123His) c.12365T>A (p.Leu4122His) c.12344T>A (p.Leu4115His) c.12338T>A (p.Leu4113His) c.12332T>A (p.Leu4111His) c.12308T>A (p.Leu4103His) c.12131T>A (p.Leu4044His) c.12275T>A (p.Leu4092His) c.12347T>A (p.Leu4116His) | |
1 | g.237784026T>C | CA345412945 | RYR2 | c.*3406T>C (n.*3406T>C) c.12302T>C (p.Leu4101Pro) c.12335T>C (p.Leu4112Pro) c.4491T>C c.12314T>C (p.Leu4105Pro) c.2367T>C c.12266T>C (p.Leu4089Pro) n.3509T>C c.12368T>C (p.Leu4123Pro) c.12365T>C (p.Leu4122Pro) c.12344T>C (p.Leu4115Pro) c.12338T>C (p.Leu4113Pro) c.12332T>C (p.Leu4111Pro) c.12308T>C (p.Leu4103Pro) c.12131T>C (p.Leu4044Pro) c.12275T>C (p.Leu4092Pro) c.12347T>C (p.Leu4116Pro) | |
1 | g.237784026T>G | CA345412946 | RYR2 | c.*3406T>G (n.*3406T>G) c.12302T>G (p.Leu4101Arg) c.12335T>G (p.Leu4112Arg) c.4491T>G c.12314T>G (p.Leu4105Arg) c.2367T>G c.12266T>G (p.Leu4089Arg) n.3509T>G c.12368T>G (p.Leu4123Arg) c.12365T>G (p.Leu4122Arg) c.12344T>G (p.Leu4115Arg) c.12338T>G (p.Leu4113Arg) c.12332T>G (p.Leu4111Arg) c.12308T>G (p.Leu4103Arg) c.12131T>G (p.Leu4044Arg) c.12275T>G (p.Leu4092Arg) c.12347T>G (p.Leu4116Arg) | |
1 | g.237784027C>A | CA066379 | RYR2 | c.*3407C>A (n.*3407C>A) c.12303C>A (p.Leu4101=) c.12336C>A (p.Leu4112=) c.4492C>A c.12315C>A (p.Leu4105=) c.2368C>A c.12267C>A (p.Leu4089=) n.3510C>A c.12369C>A (p.Leu4123=) c.12366C>A (p.Leu4122=) c.12345C>A (p.Leu4115=) c.12339C>A (p.Leu4113=) c.12333C>A (p.Leu4111=) c.12309C>A (p.Leu4103=) c.12132C>A (p.Leu4044=) c.12276C>A (p.Leu4092=) c.12348C>A (p.Leu4116=) | COSMIC COSMIC |
1 | g.237784027C= | CA1142714231 | RYR2 | c.*3407C= (n.*3407C=) c.12303C= (p.Leu4101=) c.12336C= (p.Leu4112=) c.4492C= c.12315C= (p.Leu4105=) c.2368C= c.12267C= (p.Leu4089=) n.3510C= c.12369C= (p.Leu4123=) c.12366C= (p.Leu4122=) c.12345C= (p.Leu4115=) c.12339C= (p.Leu4113=) c.12333C= (p.Leu4111=) c.12309C= (p.Leu4103=) c.12132C= (p.Leu4044=) c.12276C= (p.Leu4092=) c.12348C= (p.Leu4116=) | |
1 | g.237784027C>G | CA424032148 | RYR2 | c.*3407C>G (n.*3407C>G) c.12303C>G (p.Leu4101=) c.12336C>G (p.Leu4112=) c.4492C>G c.12315C>G (p.Leu4105=) c.2368C>G c.12267C>G (p.Leu4089=) n.3510C>G c.12369C>G (p.Leu4123=) c.12366C>G (p.Leu4122=) c.12345C>G (p.Leu4115=) c.12339C>G (p.Leu4113=) c.12333C>G (p.Leu4111=) c.12309C>G (p.Leu4103=) c.12132C>G (p.Leu4044=) c.12276C>G (p.Leu4092=) c.12348C>G (p.Leu4116=) | |
1 | g.237784027C>T | CA066382 | RYR2 | c.*3407C>T (n.*3407C>T) c.12303C>T (p.Leu4101=) c.12336C>T (p.Leu4112=) c.4492C>T c.12315C>T (p.Leu4105=) c.2368C>T c.12267C>T (p.Leu4089=) n.3510C>T c.12369C>T (p.Leu4123=) c.12366C>T (p.Leu4122=) c.12345C>T (p.Leu4115=) c.12339C>T (p.Leu4113=) c.12333C>T (p.Leu4111=) c.12309C>T (p.Leu4103=) c.12132C>T (p.Leu4044=) c.12276C>T (p.Leu4092=) c.12348C>T (p.Leu4116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784028T>A | CA345412947 | RYR2 | c.*3408T>A (n.*3408T>A) c.12304T>A (p.Ser4102Thr) c.12337T>A (p.Ser4113Thr) c.4493T>A c.12316T>A (p.Ser4106Thr) c.2369T>A c.12268T>A (p.Ser4090Thr) n.3511T>A c.12370T>A (p.Ser4124Thr) c.12367T>A (p.Ser4123Thr) c.12346T>A (p.Ser4116Thr) c.12340T>A (p.Ser4114Thr) c.12334T>A (p.Ser4112Thr) c.12310T>A (p.Ser4104Thr) c.12133T>A (p.Ser4045Thr) c.12277T>A (p.Ser4093Thr) c.12349T>A (p.Ser4117Thr) | |
1 | g.237784028T>C | CA345412948 | RYR2 | c.*3408T>C (n.*3408T>C) c.12304T>C (p.Ser4102Pro) c.12337T>C (p.Ser4113Pro) c.4493T>C c.12316T>C (p.Ser4106Pro) c.2369T>C c.12268T>C (p.Ser4090Pro) n.3511T>C c.12370T>C (p.Ser4124Pro) c.12367T>C (p.Ser4123Pro) c.12346T>C (p.Ser4116Pro) c.12340T>C (p.Ser4114Pro) c.12334T>C (p.Ser4112Pro) c.12310T>C (p.Ser4104Pro) c.12133T>C (p.Ser4045Pro) c.12277T>C (p.Ser4093Pro) c.12349T>C (p.Ser4117Pro) | gnomAD v4 |
1 | g.237784028T>G | CA345412949 | RYR2 | c.*3408T>G (n.*3408T>G) c.12304T>G (p.Ser4102Ala) c.12337T>G (p.Ser4113Ala) c.4493T>G c.12316T>G (p.Ser4106Ala) c.2369T>G c.12268T>G (p.Ser4090Ala) n.3511T>G c.12370T>G (p.Ser4124Ala) c.12367T>G (p.Ser4123Ala) c.12346T>G (p.Ser4116Ala) c.12340T>G (p.Ser4114Ala) c.12334T>G (p.Ser4112Ala) c.12310T>G (p.Ser4104Ala) c.12133T>G (p.Ser4045Ala) c.12277T>G (p.Ser4093Ala) c.12349T>G (p.Ser4117Ala) | |
1 | g.237784029C>A | CA345412950 | RYR2 | c.*3409C>A (n.*3409C>A) c.12305C>A (p.Ser4102Tyr) c.12338C>A (p.Ser4113Tyr) c.4494C>A c.12317C>A (p.Ser4106Tyr) c.2370C>A c.12269C>A (p.Ser4090Tyr) n.3512C>A c.12371C>A (p.Ser4124Tyr) c.12368C>A (p.Ser4123Tyr) c.12347C>A (p.Ser4116Tyr) c.12341C>A (p.Ser4114Tyr) c.12335C>A (p.Ser4112Tyr) c.12311C>A (p.Ser4104Tyr) c.12134C>A (p.Ser4045Tyr) c.12278C>A (p.Ser4093Tyr) c.12350C>A (p.Ser4117Tyr) | |
1 | g.237784029C>G | CA345412951 | RYR2 | c.*3409C>G (n.*3409C>G) c.12305C>G (p.Ser4102Cys) c.12338C>G (p.Ser4113Cys) c.4494C>G c.12317C>G (p.Ser4106Cys) c.2370C>G c.12269C>G (p.Ser4090Cys) n.3512C>G c.12371C>G (p.Ser4124Cys) c.12368C>G (p.Ser4123Cys) c.12347C>G (p.Ser4116Cys) c.12341C>G (p.Ser4114Cys) c.12335C>G (p.Ser4112Cys) c.12311C>G (p.Ser4104Cys) c.12134C>G (p.Ser4045Cys) c.12278C>G (p.Ser4093Cys) c.12350C>G (p.Ser4117Cys) | |
1 | g.237784029C>T | CA345412952 | RYR2 | c.*3409C>T (n.*3409C>T) c.12305C>T (p.Ser4102Phe) c.12338C>T (p.Ser4113Phe) c.4494C>T c.12317C>T (p.Ser4106Phe) c.2370C>T c.12269C>T (p.Ser4090Phe) n.3512C>T c.12371C>T (p.Ser4124Phe) c.12368C>T (p.Ser4123Phe) c.12347C>T (p.Ser4116Phe) c.12341C>T (p.Ser4114Phe) c.12335C>T (p.Ser4112Phe) c.12311C>T (p.Ser4104Phe) c.12134C>T (p.Ser4045Phe) c.12278C>T (p.Ser4093Phe) c.12350C>T (p.Ser4117Phe) | |
1 | g.237784030T>A | CA424032153 | RYR2 | c.*3410T>A (n.*3410T>A) c.12306T>A (p.Ser4102=) c.12339T>A (p.Ser4113=) c.4495T>A c.12318T>A (p.Ser4106=) c.2371T>A c.12270T>A (p.Ser4090=) n.3513T>A c.12372T>A (p.Ser4124=) c.12369T>A (p.Ser4123=) c.12348T>A (p.Ser4116=) c.12342T>A (p.Ser4114=) c.12336T>A (p.Ser4112=) c.12312T>A (p.Ser4104=) c.12135T>A (p.Ser4045=) c.12279T>A (p.Ser4093=) c.12351T>A (p.Ser4117=) | |
1 | g.237784030T>C | CA424032152 | RYR2 | c.*3410T>C (n.*3410T>C) c.12306T>C (p.Ser4102=) c.12339T>C (p.Ser4113=) c.4495T>C c.12318T>C (p.Ser4106=) c.2371T>C c.12270T>C (p.Ser4090=) n.3513T>C c.12372T>C (p.Ser4124=) c.12369T>C (p.Ser4123=) c.12348T>C (p.Ser4116=) c.12342T>C (p.Ser4114=) c.12336T>C (p.Ser4112=) c.12312T>C (p.Ser4104=) c.12135T>C (p.Ser4045=) c.12279T>C (p.Ser4093=) c.12351T>C (p.Ser4117=) | dbSNP gnomAD v2 |
1 | g.237784030T>G | CA424032151 | RYR2 | c.*3410T>G (n.*3410T>G) c.12306T>G (p.Ser4102=) c.12339T>G (p.Ser4113=) c.4495T>G c.12318T>G (p.Ser4106=) c.2371T>G c.12270T>G (p.Ser4090=) n.3513T>G c.12372T>G (p.Ser4124=) c.12369T>G (p.Ser4123=) c.12348T>G (p.Ser4116=) c.12342T>G (p.Ser4114=) c.12336T>G (p.Ser4112=) c.12312T>G (p.Ser4104=) c.12135T>G (p.Ser4045=) c.12279T>G (p.Ser4093=) c.12351T>G (p.Ser4117=) | |
1 | g.237784030T= | CA2487482359 | RYR2 | c.*3410T= (n.*3410T=) c.12306T= (p.Ser4102=) c.12339T= (p.Ser4113=) c.4495T= c.12318T= (p.Ser4106=) c.2371T= c.12270T= (p.Ser4090=) n.3513T= c.12372T= (p.Ser4124=) c.12369T= (p.Ser4123=) c.12348T= (p.Ser4116=) c.12342T= (p.Ser4114=) c.12336T= (p.Ser4112=) c.12312T= (p.Ser4104=) c.12135T= (p.Ser4045=) c.12279T= (p.Ser4093=) c.12351T= (p.Ser4117=) | |
1 | g.237784031G>A | CA345412955 | RYR2 | c.*3411G>A (n.*3411G>A) c.12307G>A (p.Glu4103Lys) c.12340G>A (p.Glu4114Lys) c.4496G>A c.12319G>A (p.Glu4107Lys) c.2372G>A c.12271G>A (p.Glu4091Lys) n.3514G>A c.12373G>A (p.Glu4125Lys) c.12370G>A (p.Glu4124Lys) c.12349G>A (p.Glu4117Lys) c.12343G>A (p.Glu4115Lys) c.12337G>A (p.Glu4113Lys) c.12313G>A (p.Glu4105Lys) c.12136G>A (p.Glu4046Lys) c.12280G>A (p.Glu4094Lys) c.12352G>A (p.Glu4118Lys) | |
1 | g.237784031G>C | CA345412953 | RYR2 | c.*3411G>C (n.*3411G>C) c.12307G>C (p.Glu4103Gln) c.12340G>C (p.Glu4114Gln) c.4496G>C c.12319G>C (p.Glu4107Gln) c.2372G>C c.12271G>C (p.Glu4091Gln) n.3514G>C c.12373G>C (p.Glu4125Gln) c.12370G>C (p.Glu4124Gln) c.12349G>C (p.Glu4117Gln) c.12343G>C (p.Glu4115Gln) c.12337G>C (p.Glu4113Gln) c.12313G>C (p.Glu4105Gln) c.12136G>C (p.Glu4046Gln) c.12280G>C (p.Glu4094Gln) c.12352G>C (p.Glu4118Gln) | |
1 | g.237784031G>T | CA345412954 | RYR2 | c.*3411G>T (n.*3411G>T) c.12307G>T (p.Glu4103Ter) c.12340G>T (p.Glu4114Ter) c.4496G>T c.12319G>T (p.Glu4107Ter) c.2372G>T c.12271G>T (p.Glu4091Ter) n.3514G>T c.12373G>T (p.Glu4125Ter) c.12370G>T (p.Glu4124Ter) c.12349G>T (p.Glu4117Ter) c.12343G>T (p.Glu4115Ter) c.12337G>T (p.Glu4113Ter) c.12313G>T (p.Glu4105Ter) c.12136G>T (p.Glu4046Ter) c.12280G>T (p.Glu4094Ter) c.12352G>T (p.Glu4118Ter) | |
1 | g.237784032A>C | CA345412956 | RYR2 | c.*3412A>C (n.*3412A>C) c.12308A>C (p.Glu4103Ala) c.12341A>C (p.Glu4114Ala) c.4497A>C c.12320A>C (p.Glu4107Ala) c.2373A>C c.12272A>C (p.Glu4091Ala) n.3515A>C c.12374A>C (p.Glu4125Ala) c.12371A>C (p.Glu4124Ala) c.12350A>C (p.Glu4117Ala) c.12344A>C (p.Glu4115Ala) c.12338A>C (p.Glu4113Ala) c.12314A>C (p.Glu4105Ala) c.12137A>C (p.Glu4046Ala) c.12281A>C (p.Glu4094Ala) c.12353A>C (p.Glu4118Ala) | ClinVar dbSNP |
1 | g.237784032A>G | CA345412957 | RYR2 | c.*3412A>G (n.*3412A>G) c.12308A>G (p.Glu4103Gly) c.12341A>G (p.Glu4114Gly) c.4497A>G c.12320A>G (p.Glu4107Gly) c.2373A>G c.12272A>G (p.Glu4091Gly) n.3515A>G c.12374A>G (p.Glu4125Gly) c.12371A>G (p.Glu4124Gly) c.12350A>G (p.Glu4117Gly) c.12344A>G (p.Glu4115Gly) c.12338A>G (p.Glu4113Gly) c.12314A>G (p.Glu4105Gly) c.12137A>G (p.Glu4046Gly) c.12281A>G (p.Glu4094Gly) c.12353A>G (p.Glu4118Gly) | |
1 | g.237784032A>T | CA345412958 | RYR2 | c.*3412A>T (n.*3412A>T) c.12308A>T (p.Glu4103Val) c.12341A>T (p.Glu4114Val) c.4497A>T c.12320A>T (p.Glu4107Val) c.2373A>T c.12272A>T (p.Glu4091Val) n.3515A>T c.12374A>T (p.Glu4125Val) c.12371A>T (p.Glu4124Val) c.12350A>T (p.Glu4117Val) c.12344A>T (p.Glu4115Val) c.12338A>T (p.Glu4113Val) c.12314A>T (p.Glu4105Val) c.12137A>T (p.Glu4046Val) c.12281A>T (p.Glu4094Val) c.12353A>T (p.Glu4118Val) | ClinVar |
1 | g.237784033G>A | CA085168 | RYR2 | c.*3413G>A (n.*3413G>A) c.12309G>A (p.Glu4103=) c.12342G>A (p.Glu4114=) c.4498G>A c.12321G>A (p.Glu4107=) c.2374G>A c.12273G>A (p.Glu4091=) n.3516G>A c.12375G>A (p.Glu4125=) c.12372G>A (p.Glu4124=) c.12351G>A (p.Glu4117=) c.12345G>A (p.Glu4115=) c.12339G>A (p.Glu4113=) c.12315G>A (p.Glu4105=) c.12138G>A (p.Glu4046=) c.12282G>A (p.Glu4094=) c.12354G>A (p.Glu4118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784033G>C | CA345412959 | RYR2 | c.*3413G>C (n.*3413G>C) c.12309G>C (p.Glu4103Asp) c.12342G>C (p.Glu4114Asp) c.4498G>C c.12321G>C (p.Glu4107Asp) c.2374G>C c.12273G>C (p.Glu4091Asp) n.3516G>C c.12375G>C (p.Glu4125Asp) c.12372G>C (p.Glu4124Asp) c.12351G>C (p.Glu4117Asp) c.12345G>C (p.Glu4115Asp) c.12339G>C (p.Glu4113Asp) c.12315G>C (p.Glu4105Asp) c.12138G>C (p.Glu4046Asp) c.12282G>C (p.Glu4094Asp) c.12354G>C (p.Glu4118Asp) | |
1 | g.237784033G= | CA1146285408 | RYR2 | c.*3413G= (n.*3413G=) c.12309G= (p.Glu4103=) c.12342G= (p.Glu4114=) c.4498G= c.12321G= (p.Glu4107=) c.2374G= c.12273G= (p.Glu4091=) n.3516G= c.12375G= (p.Glu4125=) c.12372G= (p.Glu4124=) c.12351G= (p.Glu4117=) c.12345G= (p.Glu4115=) c.12339G= (p.Glu4113=) c.12315G= (p.Glu4105=) c.12138G= (p.Glu4046=) c.12282G= (p.Glu4094=) c.12354G= (p.Glu4118=) | |
1 | g.237784033G>T | CA345412960 | RYR2 | c.*3413G>T (n.*3413G>T) c.12309G>T (p.Glu4103Asp) c.12342G>T (p.Glu4114Asp) c.4498G>T c.12321G>T (p.Glu4107Asp) c.2374G>T c.12273G>T (p.Glu4091Asp) n.3516G>T c.12375G>T (p.Glu4125Asp) c.12372G>T (p.Glu4124Asp) c.12351G>T (p.Glu4117Asp) c.12345G>T (p.Glu4115Asp) c.12339G>T (p.Glu4113Asp) c.12315G>T (p.Glu4105Asp) c.12138G>T (p.Glu4046Asp) c.12282G>T (p.Glu4094Asp) c.12354G>T (p.Glu4118Asp) | COSMIC |
1 | g.237784034C>A | CA345412961 | RYR2 | c.*3414C>A (n.*3414C>A) c.12310C>A (p.His4104Asn) c.12343C>A (p.His4115Asn) c.4499C>A c.12322C>A (p.His4108Asn) c.2375C>A c.12274C>A (p.His4092Asn) n.3517C>A c.12376C>A (p.His4126Asn) c.12373C>A (p.His4125Asn) c.12352C>A (p.His4118Asn) c.12346C>A (p.His4116Asn) c.12340C>A (p.His4114Asn) c.12316C>A (p.His4106Asn) c.12139C>A (p.His4047Asn) c.12283C>A (p.His4095Asn) c.12355C>A (p.His4119Asn) | dbSNP |
1 | g.237784034C= | CA2487482360 | RYR2 | c.*3414C= (n.*3414C=) c.12310C= (p.His4104=) c.12343C= (p.His4115=) c.4499C= c.12322C= (p.His4108=) c.2375C= c.12274C= (p.His4092=) n.3517C= c.12376C= (p.His4126=) c.12373C= (p.His4125=) c.12352C= (p.His4118=) c.12346C= (p.His4116=) c.12340C= (p.His4114=) c.12316C= (p.His4106=) c.12139C= (p.His4047=) c.12283C= (p.His4095=) c.12355C= (p.His4119=) | |
1 | g.237784034C>G | CA345412962 | RYR2 | c.*3414C>G (n.*3414C>G) c.12310C>G (p.His4104Asp) c.12343C>G (p.His4115Asp) c.4499C>G c.12322C>G (p.His4108Asp) c.2375C>G c.12274C>G (p.His4092Asp) n.3517C>G c.12376C>G (p.His4126Asp) c.12373C>G (p.His4125Asp) c.12352C>G (p.His4118Asp) c.12346C>G (p.His4116Asp) c.12340C>G (p.His4114Asp) c.12316C>G (p.His4106Asp) c.12139C>G (p.His4047Asp) c.12283C>G (p.His4095Asp) c.12355C>G (p.His4119Asp) | ClinVar dbSNP |
1 | g.237784034C>T | CA345412963 | RYR2 | c.*3414C>T (n.*3414C>T) c.12310C>T (p.His4104Tyr) c.12343C>T (p.His4115Tyr) c.4499C>T c.12322C>T (p.His4108Tyr) c.2375C>T c.12274C>T (p.His4092Tyr) n.3517C>T c.12376C>T (p.His4126Tyr) c.12373C>T (p.His4125Tyr) c.12352C>T (p.His4118Tyr) c.12346C>T (p.His4116Tyr) c.12340C>T (p.His4114Tyr) c.12316C>T (p.His4106Tyr) c.12139C>T (p.His4047Tyr) c.12283C>T (p.His4095Tyr) c.12355C>T (p.His4119Tyr) | ClinVar dbSNP gnomAD v2 |
1 | g.237784035A>C | CA345412964 | RYR2 | c.*3415A>C (n.*3415A>C) c.12311A>C (p.His4104Pro) c.12344A>C (p.His4115Pro) c.4500A>C c.12323A>C (p.His4108Pro) c.2376A>C c.12275A>C (p.His4092Pro) n.3518A>C c.12377A>C (p.His4126Pro) c.12374A>C (p.His4125Pro) c.12353A>C (p.His4118Pro) c.12347A>C (p.His4116Pro) c.12341A>C (p.His4114Pro) c.12317A>C (p.His4106Pro) c.12140A>C (p.His4047Pro) c.12284A>C (p.His4095Pro) c.12356A>C (p.His4119Pro) | |
1 | g.237784035A>G | CA345412965 | RYR2 | c.*3415A>G (n.*3415A>G) c.12311A>G (p.His4104Arg) c.12344A>G (p.His4115Arg) c.4500A>G c.12323A>G (p.His4108Arg) c.2376A>G c.12275A>G (p.His4092Arg) n.3518A>G c.12377A>G (p.His4126Arg) c.12374A>G (p.His4125Arg) c.12353A>G (p.His4118Arg) c.12347A>G (p.His4116Arg) c.12341A>G (p.His4114Arg) c.12317A>G (p.His4106Arg) c.12140A>G (p.His4047Arg) c.12284A>G (p.His4095Arg) c.12356A>G (p.His4119Arg) | gnomAD v4 COSMIC COSMIC |
1 | g.237784035A>T | CA345412966 | RYR2 | c.*3415A>T (n.*3415A>T) c.12311A>T (p.His4104Leu) c.12344A>T (p.His4115Leu) c.4500A>T c.12323A>T (p.His4108Leu) c.2376A>T c.12275A>T (p.His4092Leu) n.3518A>T c.12377A>T (p.His4126Leu) c.12374A>T (p.His4125Leu) c.12353A>T (p.His4118Leu) c.12347A>T (p.His4116Leu) c.12341A>T (p.His4114Leu) c.12317A>T (p.His4106Leu) c.12140A>T (p.His4047Leu) c.12284A>T (p.His4095Leu) c.12356A>T (p.His4119Leu) | |
1 | g.237784036C>A | CA345412968 | RYR2 | c.*3416C>A (n.*3416C>A) c.12312C>A (p.His4104Gln) c.12345C>A (p.His4115Gln) c.4501C>A c.12324C>A (p.His4108Gln) c.2377C>A c.12276C>A (p.His4092Gln) n.3519C>A c.12378C>A (p.His4126Gln) c.12375C>A (p.His4125Gln) c.12354C>A (p.His4118Gln) c.12348C>A (p.His4116Gln) c.12342C>A (p.His4114Gln) c.12318C>A (p.His4106Gln) c.12141C>A (p.His4047Gln) c.12285C>A (p.His4095Gln) c.12357C>A (p.His4119Gln) | dbSNP |
1 | g.237784036C= | CA1143052843 | RYR2 | c.*3416C= (n.*3416C=) c.12312C= (p.His4104=) c.12345C= (p.His4115=) c.4501C= c.12324C= (p.His4108=) c.2377C= c.12276C= (p.His4092=) n.3519C= c.12378C= (p.His4126=) c.12375C= (p.His4125=) c.12354C= (p.His4118=) c.12348C= (p.His4116=) c.12342C= (p.His4114=) c.12318C= (p.His4106=) c.12141C= (p.His4047=) c.12285C= (p.His4095=) c.12357C= (p.His4119=) | |
1 | g.237784036C>G | CA345412967 | RYR2 | c.*3416C>G (n.*3416C>G) c.12312C>G (p.His4104Gln) c.12345C>G (p.His4115Gln) c.4501C>G c.12324C>G (p.His4108Gln) c.2377C>G c.12276C>G (p.His4092Gln) n.3519C>G c.12378C>G (p.His4126Gln) c.12375C>G (p.His4125Gln) c.12354C>G (p.His4118Gln) c.12348C>G (p.His4116Gln) c.12342C>G (p.His4114Gln) c.12318C>G (p.His4106Gln) c.12141C>G (p.His4047Gln) c.12285C>G (p.His4095Gln) c.12357C>G (p.His4119Gln) | |
1 | g.237784036C>T | CA39827481 | RYR2 | c.*3416C>T (n.*3416C>T) c.12312C>T (p.His4104=) c.12345C>T (p.His4115=) c.4501C>T c.12324C>T (p.His4108=) c.2377C>T c.12276C>T (p.His4092=) n.3519C>T c.12378C>T (p.His4126=) c.12375C>T (p.His4125=) c.12354C>T (p.His4118=) c.12348C>T (p.His4116=) c.12342C>T (p.His4114=) c.12318C>T (p.His4106=) c.12141C>T (p.His4047=) c.12285C>T (p.His4095=) c.12357C>T (p.His4119=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784037A= | CA1148225103 | RYR2 | c.*3417A= (n.*3417A=) c.12313A= (p.Met4105=) c.12346A= (p.Met4116=) c.4502A= c.12325A= (p.Met4109=) c.2378A= c.12277A= (p.Met4093=) n.3520A= c.12379A= (p.Met4127=) c.12376A= (p.Met4126=) c.12355A= (p.Met4119=) c.12349A= (p.Met4117=) c.12343A= (p.Met4115=) c.12319A= (p.Met4107=) c.12142A= (p.Met4048=) c.12286A= (p.Met4096=) c.12358A= (p.Met4120=) | |
1 | g.237784037A>C | CA345412970 | RYR2 | c.*3417A>C (n.*3417A>C) c.12313A>C (p.Met4105Leu) c.12346A>C (p.Met4116Leu) c.4502A>C c.12325A>C (p.Met4109Leu) c.2378A>C c.12277A>C (p.Met4093Leu) n.3520A>C c.12379A>C (p.Met4127Leu) c.12376A>C (p.Met4126Leu) c.12355A>C (p.Met4119Leu) c.12349A>C (p.Met4117Leu) c.12343A>C (p.Met4115Leu) c.12319A>C (p.Met4107Leu) c.12142A>C (p.Met4048Leu) c.12286A>C (p.Met4096Leu) c.12358A>C (p.Met4120Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784037A>G | CA007471 | RYR2 | c.*3417A>G (n.*3417A>G) c.12313A>G (p.Met4105Val) c.12346A>G (p.Met4116Val) c.4502A>G c.12325A>G (p.Met4109Val) c.2378A>G c.12277A>G (p.Met4093Val) n.3520A>G c.12379A>G (p.Met4127Val) c.12376A>G (p.Met4126Val) c.12355A>G (p.Met4119Val) c.12349A>G (p.Met4117Val) c.12343A>G (p.Met4115Val) c.12319A>G (p.Met4107Val) c.12142A>G (p.Met4048Val) c.12286A>G (p.Met4096Val) c.12358A>G (p.Met4120Val) | ClinVar dbSNP |
1 | g.237784037A>T | CA345412969 | RYR2 | c.*3417A>T (n.*3417A>T) c.12313A>T (p.Met4105Leu) c.12346A>T (p.Met4116Leu) c.4502A>T c.12325A>T (p.Met4109Leu) c.2378A>T c.12277A>T (p.Met4093Leu) n.3520A>T c.12379A>T (p.Met4127Leu) c.12376A>T (p.Met4126Leu) c.12355A>T (p.Met4119Leu) c.12349A>T (p.Met4117Leu) c.12343A>T (p.Met4115Leu) c.12319A>T (p.Met4107Leu) c.12142A>T (p.Met4048Leu) c.12286A>T (p.Met4096Leu) c.12358A>T (p.Met4120Leu) | |
1 | g.237784038T>A | CA345412971 | RYR2 | c.*3418T>A (n.*3418T>A) c.12314T>A (p.Met4105Lys) c.12347T>A (p.Met4116Lys) c.4503T>A c.12326T>A (p.Met4109Lys) c.2379T>A c.12278T>A (p.Met4093Lys) n.3521T>A c.12380T>A (p.Met4127Lys) c.12377T>A (p.Met4126Lys) c.12356T>A (p.Met4119Lys) c.12350T>A (p.Met4117Lys) c.12344T>A (p.Met4115Lys) c.12320T>A (p.Met4107Lys) c.12143T>A (p.Met4048Lys) c.12287T>A (p.Met4096Lys) c.12359T>A (p.Met4120Lys) | |
1 | g.237784038T>C | CA345412972 | RYR2 | c.*3418T>C (n.*3418T>C) c.12314T>C (p.Met4105Thr) c.12347T>C (p.Met4116Thr) c.4503T>C c.12326T>C (p.Met4109Thr) c.2379T>C c.12278T>C (p.Met4093Thr) n.3521T>C c.12380T>C (p.Met4127Thr) c.12377T>C (p.Met4126Thr) c.12356T>C (p.Met4119Thr) c.12350T>C (p.Met4117Thr) c.12344T>C (p.Met4115Thr) c.12320T>C (p.Met4107Thr) c.12143T>C (p.Met4048Thr) c.12287T>C (p.Met4096Thr) c.12359T>C (p.Met4120Thr) | ClinVar dbSNP |
1 | g.237784038T>G | CA345412973 | RYR2 | c.*3418T>G (n.*3418T>G) c.12314T>G (p.Met4105Arg) c.12347T>G (p.Met4116Arg) c.4503T>G c.12326T>G (p.Met4109Arg) c.2379T>G c.12278T>G (p.Met4093Arg) n.3521T>G c.12380T>G (p.Met4127Arg) c.12377T>G (p.Met4126Arg) c.12356T>G (p.Met4119Arg) c.12350T>G (p.Met4117Arg) c.12344T>G (p.Met4115Arg) c.12320T>G (p.Met4107Arg) c.12143T>G (p.Met4048Arg) c.12287T>G (p.Met4096Arg) c.12359T>G (p.Met4120Arg) | dbSNP |
1 | g.237784038T= | CA2487482361 | RYR2 | c.*3418T= (n.*3418T=) c.12314T= (p.Met4105=) c.12347T= (p.Met4116=) c.4503T= c.12326T= (p.Met4109=) c.2379T= c.12278T= (p.Met4093=) n.3521T= c.12380T= (p.Met4127=) c.12377T= (p.Met4126=) c.12356T= (p.Met4119=) c.12350T= (p.Met4117=) c.12344T= (p.Met4115=) c.12320T= (p.Met4107=) c.12143T= (p.Met4048=) c.12287T= (p.Met4096=) c.12359T= (p.Met4120=) | |
1 | g.237784039G>A | CA345412976 | RYR2 | c.*3419G>A (n.*3419G>A) c.12315G>A (p.Met4105Ile) c.12348G>A (p.Met4116Ile) c.4504G>A c.12327G>A (p.Met4109Ile) c.2380G>A c.12279G>A (p.Met4093Ile) n.3522G>A c.12381G>A (p.Met4127Ile) c.12378G>A (p.Met4126Ile) c.12357G>A (p.Met4119Ile) c.12351G>A (p.Met4117Ile) c.12345G>A (p.Met4115Ile) c.12321G>A (p.Met4107Ile) c.12144G>A (p.Met4048Ile) c.12288G>A (p.Met4096Ile) c.12360G>A (p.Met4120Ile) | |
1 | g.237784039G>C | CA345412975 | RYR2 | c.*3419G>C (n.*3419G>C) c.12315G>C (p.Met4105Ile) c.12348G>C (p.Met4116Ile) c.4504G>C c.12327G>C (p.Met4109Ile) c.2380G>C c.12279G>C (p.Met4093Ile) n.3522G>C c.12381G>C (p.Met4127Ile) c.12378G>C (p.Met4126Ile) c.12357G>C (p.Met4119Ile) c.12351G>C (p.Met4117Ile) c.12345G>C (p.Met4115Ile) c.12321G>C (p.Met4107Ile) c.12144G>C (p.Met4048Ile) c.12288G>C (p.Met4096Ile) c.12360G>C (p.Met4120Ile) | |
1 | g.237784039G= | CA2487482362 | RYR2 | c.*3419G= (n.*3419G=) c.12315G= (p.Met4105=) c.12348G= (p.Met4116=) c.4504G= c.12327G= (p.Met4109=) c.2380G= c.12279G= (p.Met4093=) n.3522G= c.12381G= (p.Met4127=) c.12378G= (p.Met4126=) c.12357G= (p.Met4119=) c.12351G= (p.Met4117=) c.12345G= (p.Met4115=) c.12321G= (p.Met4107=) c.12144G= (p.Met4048=) c.12288G= (p.Met4096=) c.12360G= (p.Met4120=) | |
1 | g.237784039G>T | CA345412974 | RYR2 | c.*3419G>T (n.*3419G>T) c.12315G>T (p.Met4105Ile) c.12348G>T (p.Met4116Ile) c.4504G>T c.12327G>T (p.Met4109Ile) c.2380G>T c.12279G>T (p.Met4093Ile) n.3522G>T c.12381G>T (p.Met4127Ile) c.12378G>T (p.Met4126Ile) c.12357G>T (p.Met4119Ile) c.12351G>T (p.Met4117Ile) c.12345G>T (p.Met4115Ile) c.12321G>T (p.Met4107Ile) c.12144G>T (p.Met4048Ile) c.12288G>T (p.Met4096Ile) c.12360G>T (p.Met4120Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.237784040C>A | CA345412977 | RYR2 | c.*3420C>A (n.*3420C>A) c.12316C>A (p.Pro4106Thr) c.12349C>A (p.Pro4117Thr) c.4505C>A c.12328C>A (p.Pro4110Thr) c.2381C>A c.12280C>A (p.Pro4094Thr) n.3523C>A c.12382C>A (p.Pro4128Thr) c.12379C>A (p.Pro4127Thr) c.12358C>A (p.Pro4120Thr) c.12352C>A (p.Pro4118Thr) c.12346C>A (p.Pro4116Thr) c.12322C>A (p.Pro4108Thr) c.12145C>A (p.Pro4049Thr) c.12289C>A (p.Pro4097Thr) c.12361C>A (p.Pro4121Thr) | gnomAD v4 |
1 | g.237784040C>G | CA345412978 | RYR2 | c.*3420C>G (n.*3420C>G) c.12316C>G (p.Pro4106Ala) c.12349C>G (p.Pro4117Ala) c.4505C>G c.12328C>G (p.Pro4110Ala) c.2381C>G c.12280C>G (p.Pro4094Ala) n.3523C>G c.12382C>G (p.Pro4128Ala) c.12379C>G (p.Pro4127Ala) c.12358C>G (p.Pro4120Ala) c.12352C>G (p.Pro4118Ala) c.12346C>G (p.Pro4116Ala) c.12322C>G (p.Pro4108Ala) c.12145C>G (p.Pro4049Ala) c.12289C>G (p.Pro4097Ala) c.12361C>G (p.Pro4121Ala) | |
1 | g.237784040C>T | CA345412979 | RYR2 | c.*3420C>T (n.*3420C>T) c.12316C>T (p.Pro4106Ser) c.12349C>T (p.Pro4117Ser) c.4505C>T c.12328C>T (p.Pro4110Ser) c.2381C>T c.12280C>T (p.Pro4094Ser) n.3523C>T c.12382C>T (p.Pro4128Ser) c.12379C>T (p.Pro4127Ser) c.12358C>T (p.Pro4120Ser) c.12352C>T (p.Pro4118Ser) c.12346C>T (p.Pro4116Ser) c.12322C>T (p.Pro4108Ser) c.12145C>T (p.Pro4049Ser) c.12289C>T (p.Pro4097Ser) c.12361C>T (p.Pro4121Ser) | gnomAD v4 |
1 | g.237784041C>A | CA345412980 | RYR2 | c.*3421C>A (n.*3421C>A) c.12317C>A (p.Pro4106His) c.12350C>A (p.Pro4117His) c.4506C>A c.12329C>A (p.Pro4110His) c.2382C>A c.12281C>A (p.Pro4094His) n.3524C>A c.12383C>A (p.Pro4128His) c.12380C>A (p.Pro4127His) c.12359C>A (p.Pro4120His) c.12353C>A (p.Pro4118His) c.12347C>A (p.Pro4116His) c.12323C>A (p.Pro4108His) c.12146C>A (p.Pro4049His) c.12290C>A (p.Pro4097His) c.12362C>A (p.Pro4121His) | gnomAD v4 |
1 | g.237784041C>G | CA345412981 | RYR2 | c.*3421C>G (n.*3421C>G) c.12317C>G (p.Pro4106Arg) c.12350C>G (p.Pro4117Arg) c.4506C>G c.12329C>G (p.Pro4110Arg) c.2382C>G c.12281C>G (p.Pro4094Arg) n.3524C>G c.12383C>G (p.Pro4128Arg) c.12380C>G (p.Pro4127Arg) c.12359C>G (p.Pro4120Arg) c.12353C>G (p.Pro4118Arg) c.12347C>G (p.Pro4116Arg) c.12323C>G (p.Pro4108Arg) c.12146C>G (p.Pro4049Arg) c.12290C>G (p.Pro4097Arg) c.12362C>G (p.Pro4121Arg) | |
1 | g.237784041C>T | CA345412982 | RYR2 | c.*3421C>T (n.*3421C>T) c.12317C>T (p.Pro4106Leu) c.12350C>T (p.Pro4117Leu) c.4506C>T c.12329C>T (p.Pro4110Leu) c.2382C>T c.12281C>T (p.Pro4094Leu) n.3524C>T c.12383C>T (p.Pro4128Leu) c.12380C>T (p.Pro4127Leu) c.12359C>T (p.Pro4120Leu) c.12353C>T (p.Pro4118Leu) c.12347C>T (p.Pro4116Leu) c.12323C>T (p.Pro4108Leu) c.12146C>T (p.Pro4049Leu) c.12290C>T (p.Pro4097Leu) c.12362C>T (p.Pro4121Leu) | |
1 | g.237784042C>A | CA424032158 | RYR2 | c.*3422C>A (n.*3422C>A) c.12318C>A (p.Pro4106=) c.12351C>A (p.Pro4117=) c.4507C>A c.12330C>A (p.Pro4110=) c.2383C>A c.12282C>A (p.Pro4094=) n.3525C>A c.12384C>A (p.Pro4128=) c.12381C>A (p.Pro4127=) c.12360C>A (p.Pro4120=) c.12354C>A (p.Pro4118=) c.12348C>A (p.Pro4116=) c.12324C>A (p.Pro4108=) c.12147C>A (p.Pro4049=) c.12291C>A (p.Pro4097=) c.12363C>A (p.Pro4121=) | |
1 | g.237784042C= | CA2487482363 | RYR2 | c.*3422C= (n.*3422C=) c.12318C= (p.Pro4106=) c.12351C= (p.Pro4117=) c.4507C= c.12330C= (p.Pro4110=) c.2383C= c.12282C= (p.Pro4094=) n.3525C= c.12384C= (p.Pro4128=) c.12381C= (p.Pro4127=) c.12360C= (p.Pro4120=) c.12354C= (p.Pro4118=) c.12348C= (p.Pro4116=) c.12324C= (p.Pro4108=) c.12147C= (p.Pro4049=) c.12291C= (p.Pro4097=) c.12363C= (p.Pro4121=) | |
1 | g.237784042C>G | CA424032159 | RYR2 | c.*3422C>G (n.*3422C>G) c.12318C>G (p.Pro4106=) c.12351C>G (p.Pro4117=) c.4507C>G c.12330C>G (p.Pro4110=) c.2383C>G c.12282C>G (p.Pro4094=) n.3525C>G c.12384C>G (p.Pro4128=) c.12381C>G (p.Pro4127=) c.12360C>G (p.Pro4120=) c.12354C>G (p.Pro4118=) c.12348C>G (p.Pro4116=) c.12324C>G (p.Pro4108=) c.12147C>G (p.Pro4049=) c.12291C>G (p.Pro4097=) c.12363C>G (p.Pro4121=) | |
1 | g.237784042C>T | CA424032160 | RYR2 | c.*3422C>T (n.*3422C>T) c.12318C>T (p.Pro4106=) c.12351C>T (p.Pro4117=) c.4507C>T c.12330C>T (p.Pro4110=) c.2383C>T c.12282C>T (p.Pro4094=) n.3525C>T c.12384C>T (p.Pro4128=) c.12381C>T (p.Pro4127=) c.12360C>T (p.Pro4120=) c.12354C>T (p.Pro4118=) c.12348C>T (p.Pro4116=) c.12324C>T (p.Pro4108=) c.12147C>T (p.Pro4049=) c.12291C>T (p.Pro4097=) c.12363C>T (p.Pro4121=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784042_237784043insCAAACACACCCAACAC | CA2748280158 | RYR2 | c.*3422_*3423insCAAACACACCCAACAC (n.*3422_*3423insCAAACACACCCAACAC) c.12318_12319insCAAACACACCCAACAC (p.Asn4107GlnfsTer?) c.12351_12352insCAAACACACCCAACAC (p.Asn4118GlnfsTer?) c.4507_4508insCAAACACACCCAACAC c.12330_12331insCAAACACACCCAACAC (p.Asn4111GlnfsTer?) c.2383_2384insCAAACACACCCAACAC c.12282_12283insCAAACACACCCAACAC (p.Asn4095GlnfsTer?) n.3525_3526insCAAACACACCCAACAC c.12384_12385insCAAACACACCCAACAC (p.Asn4129GlnfsTer?) c.12381_12382insCAAACACACCCAACAC (p.Asn4128GlnfsTer?) c.12360_12361insCAAACACACCCAACAC (p.Asn4121GlnfsTer?) c.12354_12355insCAAACACACCCAACAC (p.Asn4119GlnfsTer?) c.12348_12349insCAAACACACCCAACAC (p.Asn4117GlnfsTer?) c.12324_12325insCAAACACACCCAACAC (p.Asn4109GlnfsTer?) c.12147_12148insCAAACACACCCAACAC (p.Asn4050GlnfsTer?) c.12291_12292insCAAACACACCCAACAC (p.Asn4098GlnfsTer?) c.12363_12364insCAAACACACCCAACAC (p.Asn4122GlnfsTer?) | |
1 | g.237784043A= | CA1143325881 | RYR2 | c.*3423A= (n.*3423A=) c.12319A= (p.Asn4107=) c.12352A= (p.Asn4118=) c.4508A= c.12331A= (p.Asn4111=) c.2384A= c.12283A= (p.Asn4095=) n.3526A= c.12385A= (p.Asn4129=) c.12382A= (p.Asn4128=) c.12361A= (p.Asn4121=) c.12355A= (p.Asn4119=) c.12349A= (p.Asn4117=) c.12325A= (p.Asn4109=) c.12148A= (p.Asn4050=) c.12292A= (p.Asn4098=) c.12364A= (p.Asn4122=) | |
1 | g.237784043A>C | CA085169 | RYR2 | c.*3423A>C (n.*3423A>C) c.12319A>C (p.Asn4107His) c.12352A>C (p.Asn4118His) c.4508A>C c.12331A>C (p.Asn4111His) c.2384A>C c.12283A>C (p.Asn4095His) n.3526A>C c.12385A>C (p.Asn4129His) c.12382A>C (p.Asn4128His) c.12361A>C (p.Asn4121His) c.12355A>C (p.Asn4119His) c.12349A>C (p.Asn4117His) c.12325A>C (p.Asn4109His) c.12148A>C (p.Asn4050His) c.12292A>C (p.Asn4098His) c.12364A>C (p.Asn4122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784043A>G | CA345412984 | RYR2 | c.*3423A>G (n.*3423A>G) c.12319A>G (p.Asn4107Asp) c.12352A>G (p.Asn4118Asp) c.4508A>G c.12331A>G (p.Asn4111Asp) c.2384A>G c.12283A>G (p.Asn4095Asp) n.3526A>G c.12385A>G (p.Asn4129Asp) c.12382A>G (p.Asn4128Asp) c.12361A>G (p.Asn4121Asp) c.12355A>G (p.Asn4119Asp) c.12349A>G (p.Asn4117Asp) c.12325A>G (p.Asn4109Asp) c.12148A>G (p.Asn4050Asp) c.12292A>G (p.Asn4098Asp) c.12364A>G (p.Asn4122Asp) | |
1 | g.237784043A>T | CA345412983 | RYR2 | c.*3423A>T (n.*3423A>T) c.12319A>T (p.Asn4107Tyr) c.12352A>T (p.Asn4118Tyr) c.4508A>T c.12331A>T (p.Asn4111Tyr) c.2384A>T c.12283A>T (p.Asn4095Tyr) n.3526A>T c.12385A>T (p.Asn4129Tyr) c.12382A>T (p.Asn4128Tyr) c.12361A>T (p.Asn4121Tyr) c.12355A>T (p.Asn4119Tyr) c.12349A>T (p.Asn4117Tyr) c.12325A>T (p.Asn4109Tyr) c.12148A>T (p.Asn4050Tyr) c.12292A>T (p.Asn4098Tyr) c.12364A>T (p.Asn4122Tyr) | |
1 | g.237784044A= | CA2487482364 | RYR2 | c.*3424A= (n.*3424A=) c.12320A= (p.Asn4107=) c.12353A= (p.Asn4118=) c.4509A= c.12332A= (p.Asn4111=) c.2385A= c.12284A= (p.Asn4095=) n.3527A= c.12386A= (p.Asn4129=) c.12383A= (p.Asn4128=) c.12362A= (p.Asn4121=) c.12356A= (p.Asn4119=) c.12350A= (p.Asn4117=) c.12326A= (p.Asn4109=) c.12149A= (p.Asn4050=) c.12293A= (p.Asn4098=) c.12365A= (p.Asn4122=) | |
1 | g.237784044A>C | CA345412985 | RYR2 | c.*3424A>C (n.*3424A>C) c.12320A>C (p.Asn4107Thr) c.12353A>C (p.Asn4118Thr) c.4509A>C c.12332A>C (p.Asn4111Thr) c.2385A>C c.12284A>C (p.Asn4095Thr) n.3527A>C c.12386A>C (p.Asn4129Thr) c.12383A>C (p.Asn4128Thr) c.12362A>C (p.Asn4121Thr) c.12356A>C (p.Asn4119Thr) c.12350A>C (p.Asn4117Thr) c.12326A>C (p.Asn4109Thr) c.12149A>C (p.Asn4050Thr) c.12293A>C (p.Asn4098Thr) c.12365A>C (p.Asn4122Thr) | |
1 | g.237784044A>G | CA345412986 | RYR2 | c.*3424A>G (n.*3424A>G) c.12320A>G (p.Asn4107Ser) c.12353A>G (p.Asn4118Ser) c.4509A>G c.12332A>G (p.Asn4111Ser) c.2385A>G c.12284A>G (p.Asn4095Ser) n.3527A>G c.12386A>G (p.Asn4129Ser) c.12383A>G (p.Asn4128Ser) c.12362A>G (p.Asn4121Ser) c.12356A>G (p.Asn4119Ser) c.12350A>G (p.Asn4117Ser) c.12326A>G (p.Asn4109Ser) c.12149A>G (p.Asn4050Ser) c.12293A>G (p.Asn4098Ser) c.12365A>G (p.Asn4122Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784044A>T | CA345412987 | RYR2 | c.*3424A>T (n.*3424A>T) c.12320A>T (p.Asn4107Ile) c.12353A>T (p.Asn4118Ile) c.4509A>T c.12332A>T (p.Asn4111Ile) c.2385A>T c.12284A>T (p.Asn4095Ile) n.3527A>T c.12386A>T (p.Asn4129Ile) c.12383A>T (p.Asn4128Ile) c.12362A>T (p.Asn4121Ile) c.12356A>T (p.Asn4119Ile) c.12350A>T (p.Asn4117Ile) c.12326A>T (p.Asn4109Ile) c.12149A>T (p.Asn4050Ile) c.12293A>T (p.Asn4098Ile) c.12365A>T (p.Asn4122Ile) | |
1 | g.237784045C>A | CA345412988 | RYR2 | c.*3425C>A (n.*3425C>A) c.12321C>A (p.Asn4107Lys) c.12354C>A (p.Asn4118Lys) c.4510C>A c.12333C>A (p.Asn4111Lys) c.2386C>A c.12285C>A (p.Asn4095Lys) n.3528C>A c.12387C>A (p.Asn4129Lys) c.12384C>A (p.Asn4128Lys) c.12363C>A (p.Asn4121Lys) c.12357C>A (p.Asn4119Lys) c.12351C>A (p.Asn4117Lys) c.12327C>A (p.Asn4109Lys) c.12150C>A (p.Asn4050Lys) c.12294C>A (p.Asn4098Lys) c.12366C>A (p.Asn4122Lys) | |
1 | g.237784045C= | CA1149037324 | RYR2 | c.*3425C= (n.*3425C=) c.12321C= (p.Asn4107=) c.12354C= (p.Asn4118=) c.4510C= c.12333C= (p.Asn4111=) c.2386C= c.12285C= (p.Asn4095=) n.3528C= c.12387C= (p.Asn4129=) c.12384C= (p.Asn4128=) c.12363C= (p.Asn4121=) c.12357C= (p.Asn4119=) c.12351C= (p.Asn4117=) c.12327C= (p.Asn4109=) c.12150C= (p.Asn4050=) c.12294C= (p.Asn4098=) c.12366C= (p.Asn4122=) | |
1 | g.237784045C>G | CA345412989 | RYR2 | c.*3425C>G (n.*3425C>G) c.12321C>G (p.Asn4107Lys) c.12354C>G (p.Asn4118Lys) c.4510C>G c.12333C>G (p.Asn4111Lys) c.2386C>G c.12285C>G (p.Asn4095Lys) n.3528C>G c.12387C>G (p.Asn4129Lys) c.12384C>G (p.Asn4128Lys) c.12363C>G (p.Asn4121Lys) c.12357C>G (p.Asn4119Lys) c.12351C>G (p.Asn4117Lys) c.12327C>G (p.Asn4109Lys) c.12150C>G (p.Asn4050Lys) c.12294C>G (p.Asn4098Lys) c.12366C>G (p.Asn4122Lys) | ClinVar |
1 | g.237784045C>T | CA085170 | RYR2 | c.*3425C>T (n.*3425C>T) c.12321C>T (p.Asn4107=) c.12354C>T (p.Asn4118=) c.4510C>T c.12333C>T (p.Asn4111=) c.2386C>T c.12285C>T (p.Asn4095=) n.3528C>T c.12387C>T (p.Asn4129=) c.12384C>T (p.Asn4128=) c.12363C>T (p.Asn4121=) c.12357C>T (p.Asn4119=) c.12351C>T (p.Asn4117=) c.12327C>T (p.Asn4109=) c.12150C>T (p.Asn4050=) c.12294C>T (p.Asn4098=) c.12366C>T (p.Asn4122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784046G>A | CA345412990 | RYR2 | c.*3426G>A (n.*3426G>A) c.12322G>A (p.Asp4108Asn) c.12355G>A (p.Asp4119Asn) c.4511G>A c.12334G>A (p.Asp4112Asn) c.2387G>A c.12286G>A (p.Asp4096Asn) n.3529G>A c.12388G>A (p.Asp4130Asn) c.12385G>A (p.Asp4129Asn) c.12364G>A (p.Asp4122Asn) c.12358G>A (p.Asp4120Asn) c.12352G>A (p.Asp4118Asn) c.12328G>A (p.Asp4110Asn) c.12151G>A (p.Asp4051Asn) c.12295G>A (p.Asp4099Asn) c.12367G>A (p.Asp4123Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784046G>C | CA345412991 | RYR2 | c.*3426G>C (n.*3426G>C) c.12322G>C (p.Asp4108His) c.12355G>C (p.Asp4119His) c.4511G>C c.12334G>C (p.Asp4112His) c.2387G>C c.12286G>C (p.Asp4096His) n.3529G>C c.12388G>C (p.Asp4130His) c.12385G>C (p.Asp4129His) c.12364G>C (p.Asp4122His) c.12358G>C (p.Asp4120His) c.12352G>C (p.Asp4118His) c.12328G>C (p.Asp4110His) c.12151G>C (p.Asp4051His) c.12295G>C (p.Asp4099His) c.12367G>C (p.Asp4123His) | |
1 | g.237784046G= | CA2487482365 | RYR2 | c.*3426G= (n.*3426G=) c.12322G= (p.Asp4108=) c.12355G= (p.Asp4119=) c.4511G= c.12334G= (p.Asp4112=) c.2387G= c.12286G= (p.Asp4096=) n.3529G= c.12388G= (p.Asp4130=) c.12385G= (p.Asp4129=) c.12364G= (p.Asp4122=) c.12358G= (p.Asp4120=) c.12352G= (p.Asp4118=) c.12328G= (p.Asp4110=) c.12151G= (p.Asp4051=) c.12295G= (p.Asp4099=) c.12367G= (p.Asp4123=) | |
1 | g.237784046G>T | CA345412992 | RYR2 | c.*3426G>T (n.*3426G>T) c.12322G>T (p.Asp4108Tyr) c.12355G>T (p.Asp4119Tyr) c.4511G>T c.12334G>T (p.Asp4112Tyr) c.2387G>T c.12286G>T (p.Asp4096Tyr) n.3529G>T c.12388G>T (p.Asp4130Tyr) c.12385G>T (p.Asp4129Tyr) c.12364G>T (p.Asp4122Tyr) c.12358G>T (p.Asp4120Tyr) c.12352G>T (p.Asp4118Tyr) c.12328G>T (p.Asp4110Tyr) c.12151G>T (p.Asp4051Tyr) c.12295G>T (p.Asp4099Tyr) c.12367G>T (p.Asp4123Tyr) | |
1 | g.237784047A>C | CA345412993 | RYR2 | c.*3427A>C (n.*3427A>C) c.12323A>C (p.Asp4108Ala) c.12356A>C (p.Asp4119Ala) c.4512A>C c.12335A>C (p.Asp4112Ala) c.2388A>C c.12287A>C (p.Asp4096Ala) n.3530A>C c.12389A>C (p.Asp4130Ala) c.12386A>C (p.Asp4129Ala) c.12365A>C (p.Asp4122Ala) c.12359A>C (p.Asp4120Ala) c.12353A>C (p.Asp4118Ala) c.12329A>C (p.Asp4110Ala) c.12152A>C (p.Asp4051Ala) c.12296A>C (p.Asp4099Ala) c.12368A>C (p.Asp4123Ala) | |
1 | g.237784047A>G | CA345412994 | RYR2 | c.*3427A>G (n.*3427A>G) c.12323A>G (p.Asp4108Gly) c.12356A>G (p.Asp4119Gly) c.4512A>G c.12335A>G (p.Asp4112Gly) c.2388A>G c.12287A>G (p.Asp4096Gly) n.3530A>G c.12389A>G (p.Asp4130Gly) c.12386A>G (p.Asp4129Gly) c.12365A>G (p.Asp4122Gly) c.12359A>G (p.Asp4120Gly) c.12353A>G (p.Asp4118Gly) c.12329A>G (p.Asp4110Gly) c.12152A>G (p.Asp4051Gly) c.12296A>G (p.Asp4099Gly) c.12368A>G (p.Asp4123Gly) | |
1 | g.237784047A>T | CA345412995 | RYR2 | c.*3427A>T (n.*3427A>T) c.12323A>T (p.Asp4108Val) c.12356A>T (p.Asp4119Val) c.4512A>T c.12335A>T (p.Asp4112Val) c.2388A>T c.12287A>T (p.Asp4096Val) n.3530A>T c.12389A>T (p.Asp4130Val) c.12386A>T (p.Asp4129Val) c.12365A>T (p.Asp4122Val) c.12359A>T (p.Asp4120Val) c.12353A>T (p.Asp4118Val) c.12329A>T (p.Asp4110Val) c.12152A>T (p.Asp4051Val) c.12296A>T (p.Asp4099Val) c.12368A>T (p.Asp4123Val) | |
1 | g.237784048T>A | CA345412997 | RYR2 | c.*3428T>A (n.*3428T>A) c.12324T>A (p.Asp4108Glu) c.12357T>A (p.Asp4119Glu) c.4513T>A c.12336T>A (p.Asp4112Glu) c.2389T>A c.12288T>A (p.Asp4096Glu) n.3531T>A c.12390T>A (p.Asp4130Glu) c.12387T>A (p.Asp4129Glu) c.12366T>A (p.Asp4122Glu) c.12360T>A (p.Asp4120Glu) c.12354T>A (p.Asp4118Glu) c.12330T>A (p.Asp4110Glu) c.12153T>A (p.Asp4051Glu) c.12297T>A (p.Asp4099Glu) c.12369T>A (p.Asp4123Glu) | |
1 | g.237784048T>C | CA085171 | RYR2 | c.*3428T>C (n.*3428T>C) c.12324T>C (p.Asp4108=) c.12357T>C (p.Asp4119=) c.4513T>C c.12336T>C (p.Asp4112=) c.2389T>C c.12288T>C (p.Asp4096=) n.3531T>C c.12390T>C (p.Asp4130=) c.12387T>C (p.Asp4129=) c.12366T>C (p.Asp4122=) c.12360T>C (p.Asp4120=) c.12354T>C (p.Asp4118=) c.12330T>C (p.Asp4110=) c.12153T>C (p.Asp4051=) c.12297T>C (p.Asp4099=) c.12369T>C (p.Asp4123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784048T>G | CA345412996 | RYR2 | c.*3428T>G (n.*3428T>G) c.12324T>G (p.Asp4108Glu) c.12357T>G (p.Asp4119Glu) c.4513T>G c.12336T>G (p.Asp4112Glu) c.2389T>G c.12288T>G (p.Asp4096Glu) n.3531T>G c.12390T>G (p.Asp4130Glu) c.12387T>G (p.Asp4129Glu) c.12366T>G (p.Asp4122Glu) c.12360T>G (p.Asp4120Glu) c.12354T>G (p.Asp4118Glu) c.12330T>G (p.Asp4110Glu) c.12153T>G (p.Asp4051Glu) c.12297T>G (p.Asp4099Glu) c.12369T>G (p.Asp4123Glu) | |
1 | g.237784048T= | CA2487482366 | RYR2 | c.*3428T= (n.*3428T=) c.12324T= (p.Asp4108=) c.12357T= (p.Asp4119=) c.4513T= c.12336T= (p.Asp4112=) c.2389T= c.12288T= (p.Asp4096=) n.3531T= c.12390T= (p.Asp4130=) c.12387T= (p.Asp4129=) c.12366T= (p.Asp4122=) c.12360T= (p.Asp4120=) c.12354T= (p.Asp4118=) c.12330T= (p.Asp4110=) c.12153T= (p.Asp4051=) c.12297T= (p.Asp4099=) c.12369T= (p.Asp4123=) | |
1 | g.237784049A>C | CA345412998 | RYR2 | c.*3429A>C (n.*3429A>C) c.12325A>C (p.Thr4109Pro) c.12358A>C (p.Thr4120Pro) c.4514A>C c.12337A>C (p.Thr4113Pro) c.2390A>C c.12289A>C (p.Thr4097Pro) n.3532A>C c.12391A>C (p.Thr4131Pro) c.12388A>C (p.Thr4130Pro) c.12367A>C (p.Thr4123Pro) c.12361A>C (p.Thr4121Pro) c.12355A>C (p.Thr4119Pro) c.12331A>C (p.Thr4111Pro) c.12154A>C (p.Thr4052Pro) c.12298A>C (p.Thr4100Pro) c.12370A>C (p.Thr4124Pro) | |
1 | g.237784049A>G | CA345413000 | RYR2 | c.*3429A>G (n.*3429A>G) c.12325A>G (p.Thr4109Ala) c.12358A>G (p.Thr4120Ala) c.4514A>G c.12337A>G (p.Thr4113Ala) c.2390A>G c.12289A>G (p.Thr4097Ala) n.3532A>G c.12391A>G (p.Thr4131Ala) c.12388A>G (p.Thr4130Ala) c.12367A>G (p.Thr4123Ala) c.12361A>G (p.Thr4121Ala) c.12355A>G (p.Thr4119Ala) c.12331A>G (p.Thr4111Ala) c.12154A>G (p.Thr4052Ala) c.12298A>G (p.Thr4100Ala) c.12370A>G (p.Thr4124Ala) | |
1 | g.237784049A>T | CA345412999 | RYR2 | c.*3429A>T (n.*3429A>T) c.12325A>T (p.Thr4109Ser) c.12358A>T (p.Thr4120Ser) c.4514A>T c.12337A>T (p.Thr4113Ser) c.2390A>T c.12289A>T (p.Thr4097Ser) n.3532A>T c.12391A>T (p.Thr4131Ser) c.12388A>T (p.Thr4130Ser) c.12367A>T (p.Thr4123Ser) c.12361A>T (p.Thr4121Ser) c.12355A>T (p.Thr4119Ser) c.12331A>T (p.Thr4111Ser) c.12154A>T (p.Thr4052Ser) c.12298A>T (p.Thr4100Ser) c.12370A>T (p.Thr4124Ser) | |
1 | g.237784050C>A | CA345413001 | RYR2 | c.*3430C>A (n.*3430C>A) c.12326C>A (p.Thr4109Asn) c.12359C>A (p.Thr4120Asn) c.4515C>A c.12338C>A (p.Thr4113Asn) c.2391C>A c.12290C>A (p.Thr4097Asn) n.3533C>A c.12392C>A (p.Thr4131Asn) c.12389C>A (p.Thr4130Asn) c.12368C>A (p.Thr4123Asn) c.12362C>A (p.Thr4121Asn) c.12356C>A (p.Thr4119Asn) c.12332C>A (p.Thr4111Asn) c.12155C>A (p.Thr4052Asn) c.12299C>A (p.Thr4100Asn) c.12371C>A (p.Thr4124Asn) | |
1 | g.237784050C>G | CA345413002 | RYR2 | c.*3430C>G (n.*3430C>G) c.12326C>G (p.Thr4109Ser) c.12359C>G (p.Thr4120Ser) c.4515C>G c.12338C>G (p.Thr4113Ser) c.2391C>G c.12290C>G (p.Thr4097Ser) n.3533C>G c.12392C>G (p.Thr4131Ser) c.12389C>G (p.Thr4130Ser) c.12368C>G (p.Thr4123Ser) c.12362C>G (p.Thr4121Ser) c.12356C>G (p.Thr4119Ser) c.12332C>G (p.Thr4111Ser) c.12155C>G (p.Thr4052Ser) c.12299C>G (p.Thr4100Ser) c.12371C>G (p.Thr4124Ser) | |
1 | g.237784050C>T | CA345413003 | RYR2 | c.*3430C>T (n.*3430C>T) c.12326C>T (p.Thr4109Ile) c.12359C>T (p.Thr4120Ile) c.4515C>T c.12338C>T (p.Thr4113Ile) c.2391C>T c.12290C>T (p.Thr4097Ile) n.3533C>T c.12392C>T (p.Thr4131Ile) c.12389C>T (p.Thr4130Ile) c.12368C>T (p.Thr4123Ile) c.12362C>T (p.Thr4121Ile) c.12356C>T (p.Thr4119Ile) c.12332C>T (p.Thr4111Ile) c.12155C>T (p.Thr4052Ile) c.12299C>T (p.Thr4100Ile) c.12371C>T (p.Thr4124Ile) | |
1 | g.237784051C>A | CA424032168 | RYR2 | c.*3431C>A (n.*3431C>A) c.12327C>A (p.Thr4109=) c.12360C>A (p.Thr4120=) c.4516C>A c.12339C>A (p.Thr4113=) c.2392C>A c.12291C>A (p.Thr4097=) n.3534C>A c.12393C>A (p.Thr4131=) c.12390C>A (p.Thr4130=) c.12369C>A (p.Thr4123=) c.12363C>A (p.Thr4121=) c.12357C>A (p.Thr4119=) c.12333C>A (p.Thr4111=) c.12156C>A (p.Thr4052=) c.12300C>A (p.Thr4100=) c.12372C>A (p.Thr4124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784051C= | CA2487482367 | RYR2 | c.*3431C= (n.*3431C=) c.12327C= (p.Thr4109=) c.12360C= (p.Thr4120=) c.4516C= c.12339C= (p.Thr4113=) c.2392C= c.12291C= (p.Thr4097=) n.3534C= c.12393C= (p.Thr4131=) c.12390C= (p.Thr4130=) c.12369C= (p.Thr4123=) c.12363C= (p.Thr4121=) c.12357C= (p.Thr4119=) c.12333C= (p.Thr4111=) c.12156C= (p.Thr4052=) c.12300C= (p.Thr4100=) c.12372C= (p.Thr4124=) | |
1 | g.237784051C>G | CA424032167 | RYR2 | c.*3431C>G (n.*3431C>G) c.12327C>G (p.Thr4109=) c.12360C>G (p.Thr4120=) c.4516C>G c.12339C>G (p.Thr4113=) c.2392C>G c.12291C>G (p.Thr4097=) n.3534C>G c.12393C>G (p.Thr4131=) c.12390C>G (p.Thr4130=) c.12369C>G (p.Thr4123=) c.12363C>G (p.Thr4121=) c.12357C>G (p.Thr4119=) c.12333C>G (p.Thr4111=) c.12156C>G (p.Thr4052=) c.12300C>G (p.Thr4100=) c.12372C>G (p.Thr4124=) | |
1 | g.237784051C>T | CA424032166 | RYR2 | c.*3431C>T (n.*3431C>T) c.12327C>T (p.Thr4109=) c.12360C>T (p.Thr4120=) c.4516C>T c.12339C>T (p.Thr4113=) c.2392C>T c.12291C>T (p.Thr4097=) n.3534C>T c.12393C>T (p.Thr4131=) c.12390C>T (p.Thr4130=) c.12369C>T (p.Thr4123=) c.12363C>T (p.Thr4121=) c.12357C>T (p.Thr4119=) c.12333C>T (p.Thr4111=) c.12156C>T (p.Thr4052=) c.12300C>T (p.Thr4100=) c.12372C>T (p.Thr4124=) | gnomAD v4 |
1 | g.237784052C>A | CA424032169 | RYR2 | c.*3432C>A (n.*3432C>A) c.12328C>A (p.Arg4110=) c.12361C>A (p.Arg4121=) c.4517C>A c.12340C>A (p.Arg4114=) c.2393C>A c.12292C>A (p.Arg4098=) n.3535C>A c.12394C>A (p.Arg4132=) c.12391C>A (p.Arg4131=) c.12370C>A (p.Arg4124=) c.12364C>A (p.Arg4122=) c.12358C>A (p.Arg4120=) c.12334C>A (p.Arg4112=) c.12157C>A (p.Arg4053=) c.12301C>A (p.Arg4101=) c.12373C>A (p.Arg4125=) | |
1 | g.237784052C= | CA2487482368 | RYR2 | c.*3432C= (n.*3432C=) c.12328C= (p.Arg4110=) c.12361C= (p.Arg4121=) c.4517C= c.12340C= (p.Arg4114=) c.2393C= c.12292C= (p.Arg4098=) n.3535C= c.12394C= (p.Arg4132=) c.12391C= (p.Arg4131=) c.12370C= (p.Arg4124=) c.12364C= (p.Arg4122=) c.12358C= (p.Arg4120=) c.12334C= (p.Arg4112=) c.12157C= (p.Arg4053=) c.12301C= (p.Arg4101=) c.12373C= (p.Arg4125=) | |
1 | g.237784052C>G | CA345413004 | RYR2 | c.*3432C>G (n.*3432C>G) c.12328C>G (p.Arg4110Gly) c.12361C>G (p.Arg4121Gly) c.4517C>G c.12340C>G (p.Arg4114Gly) c.2393C>G c.12292C>G (p.Arg4098Gly) n.3535C>G c.12394C>G (p.Arg4132Gly) c.12391C>G (p.Arg4131Gly) c.12370C>G (p.Arg4124Gly) c.12364C>G (p.Arg4122Gly) c.12358C>G (p.Arg4120Gly) c.12334C>G (p.Arg4112Gly) c.12157C>G (p.Arg4053Gly) c.12301C>G (p.Arg4101Gly) c.12373C>G (p.Arg4125Gly) | ClinVar |
1 | g.237784052C>T | CA345413005 | RYR2 | c.*3432C>T (n.*3432C>T) c.12328C>T (p.Arg4110Ter) c.12361C>T (p.Arg4121Ter) c.4517C>T c.12340C>T (p.Arg4114Ter) c.2393C>T c.12292C>T (p.Arg4098Ter) n.3535C>T c.12394C>T (p.Arg4132Ter) c.12391C>T (p.Arg4131Ter) c.12370C>T (p.Arg4124Ter) c.12364C>T (p.Arg4122Ter) c.12358C>T (p.Arg4120Ter) c.12334C>T (p.Arg4112Ter) c.12157C>T (p.Arg4053Ter) c.12301C>T (p.Arg4101Ter) c.12373C>T (p.Arg4125Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.237784053G>A | CA345413006 | RYR2 | c.*3433G>A (n.*3433G>A) c.12329G>A (p.Arg4110Gln) c.12362G>A (p.Arg4121Gln) c.4518G>A c.12341G>A (p.Arg4114Gln) c.2394G>A c.12293G>A (p.Arg4098Gln) n.3536G>A c.12395G>A (p.Arg4132Gln) c.12392G>A (p.Arg4131Gln) c.12371G>A (p.Arg4124Gln) c.12365G>A (p.Arg4122Gln) c.12359G>A (p.Arg4120Gln) c.12335G>A (p.Arg4112Gln) c.12158G>A (p.Arg4053Gln) c.12302G>A (p.Arg4101Gln) c.12374G>A (p.Arg4125Gln) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784053G>C | CA345413007 | RYR2 | c.*3433G>C (n.*3433G>C) c.12329G>C (p.Arg4110Pro) c.12362G>C (p.Arg4121Pro) c.4518G>C c.12341G>C (p.Arg4114Pro) c.2394G>C c.12293G>C (p.Arg4098Pro) n.3536G>C c.12395G>C (p.Arg4132Pro) c.12392G>C (p.Arg4131Pro) c.12371G>C (p.Arg4124Pro) c.12365G>C (p.Arg4122Pro) c.12359G>C (p.Arg4120Pro) c.12335G>C (p.Arg4112Pro) c.12158G>C (p.Arg4053Pro) c.12302G>C (p.Arg4101Pro) c.12374G>C (p.Arg4125Pro) | |
1 | g.237784053G= | CA2487482369 | RYR2 | c.*3433G= (n.*3433G=) c.12329G= (p.Arg4110=) c.12362G= (p.Arg4121=) c.4518G= c.12341G= (p.Arg4114=) c.2394G= c.12293G= (p.Arg4098=) n.3536G= c.12395G= (p.Arg4132=) c.12392G= (p.Arg4131=) c.12371G= (p.Arg4124=) c.12365G= (p.Arg4122=) c.12359G= (p.Arg4120=) c.12335G= (p.Arg4112=) c.12158G= (p.Arg4053=) c.12302G= (p.Arg4101=) c.12374G= (p.Arg4125=) | |
1 | g.237784053G>T | CA345413008 | RYR2 | c.*3433G>T (n.*3433G>T) c.12329G>T (p.Arg4110Leu) c.12362G>T (p.Arg4121Leu) c.4518G>T c.12341G>T (p.Arg4114Leu) c.2394G>T c.12293G>T (p.Arg4098Leu) n.3536G>T c.12395G>T (p.Arg4132Leu) c.12392G>T (p.Arg4131Leu) c.12371G>T (p.Arg4124Leu) c.12365G>T (p.Arg4122Leu) c.12359G>T (p.Arg4120Leu) c.12335G>T (p.Arg4112Leu) c.12158G>T (p.Arg4053Leu) c.12302G>T (p.Arg4101Leu) c.12374G>T (p.Arg4125Leu) | |
1 | g.237784054A>C | CA424032172 | RYR2 | c.*3434A>C (n.*3434A>C) c.12330A>C (p.Arg4110=) c.12363A>C (p.Arg4121=) c.4519A>C c.12342A>C (p.Arg4114=) c.2395A>C c.12294A>C (p.Arg4098=) n.3537A>C c.12396A>C (p.Arg4132=) c.12393A>C (p.Arg4131=) c.12372A>C (p.Arg4124=) c.12366A>C (p.Arg4122=) c.12360A>C (p.Arg4120=) c.12336A>C (p.Arg4112=) c.12159A>C (p.Arg4053=) c.12303A>C (p.Arg4101=) c.12375A>C (p.Arg4125=) | |
1 | g.237784054A>G | CA424032175 | RYR2 | c.*3434A>G (n.*3434A>G) c.12330A>G (p.Arg4110=) c.12363A>G (p.Arg4121=) c.4519A>G c.12342A>G (p.Arg4114=) c.2395A>G c.12294A>G (p.Arg4098=) n.3537A>G c.12396A>G (p.Arg4132=) c.12393A>G (p.Arg4131=) c.12372A>G (p.Arg4124=) c.12366A>G (p.Arg4122=) c.12360A>G (p.Arg4120=) c.12336A>G (p.Arg4112=) c.12159A>G (p.Arg4053=) c.12303A>G (p.Arg4101=) c.12375A>G (p.Arg4125=) | gnomAD v4 |
1 | g.237784054A>T | CA424032174 | RYR2 | c.*3434A>T (n.*3434A>T) c.12330A>T (p.Arg4110=) c.12363A>T (p.Arg4121=) c.4519A>T c.12342A>T (p.Arg4114=) c.2395A>T c.12294A>T (p.Arg4098=) n.3537A>T c.12396A>T (p.Arg4132=) c.12393A>T (p.Arg4131=) c.12372A>T (p.Arg4124=) c.12366A>T (p.Arg4122=) c.12360A>T (p.Arg4120=) c.12336A>T (p.Arg4112=) c.12159A>T (p.Arg4053=) c.12303A>T (p.Arg4101=) c.12375A>T (p.Arg4125=) | |
1 | g.237784055C>A | CA345413009 | RYR2 | c.*3435C>A (n.*3435C>A) c.12331C>A (p.Leu4111Ile) c.12364C>A (p.Leu4122Ile) c.4520C>A c.12343C>A (p.Leu4115Ile) c.2396C>A c.12295C>A (p.Leu4099Ile) n.3538C>A c.12397C>A (p.Leu4133Ile) c.12394C>A (p.Leu4132Ile) c.12373C>A (p.Leu4125Ile) c.12367C>A (p.Leu4123Ile) c.12361C>A (p.Leu4121Ile) c.12337C>A (p.Leu4113Ile) c.12160C>A (p.Leu4054Ile) c.12304C>A (p.Leu4102Ile) c.12376C>A (p.Leu4126Ile) | |
1 | g.237784055C= | CA2487482370 | RYR2 | c.*3435C= (n.*3435C=) c.12331C= (p.Leu4111=) c.12364C= (p.Leu4122=) c.4520C= c.12343C= (p.Leu4115=) c.2396C= c.12295C= (p.Leu4099=) n.3538C= c.12397C= (p.Leu4133=) c.12394C= (p.Leu4132=) c.12373C= (p.Leu4125=) c.12367C= (p.Leu4123=) c.12361C= (p.Leu4121=) c.12337C= (p.Leu4113=) c.12160C= (p.Leu4054=) c.12304C= (p.Leu4102=) c.12376C= (p.Leu4126=) | |
1 | g.237784055C>G | CA345413010 | RYR2 | c.*3435C>G (n.*3435C>G) c.12331C>G (p.Leu4111Val) c.12364C>G (p.Leu4122Val) c.4520C>G c.12343C>G (p.Leu4115Val) c.2396C>G c.12295C>G (p.Leu4099Val) n.3538C>G c.12397C>G (p.Leu4133Val) c.12394C>G (p.Leu4132Val) c.12373C>G (p.Leu4125Val) c.12367C>G (p.Leu4123Val) c.12361C>G (p.Leu4121Val) c.12337C>G (p.Leu4113Val) c.12160C>G (p.Leu4054Val) c.12304C>G (p.Leu4102Val) c.12376C>G (p.Leu4126Val) | |
1 | g.237784055C>T | CA345413011 | RYR2 | c.*3435C>T (n.*3435C>T) c.12331C>T (p.Leu4111Phe) c.12364C>T (p.Leu4122Phe) c.4520C>T c.12343C>T (p.Leu4115Phe) c.2396C>T c.12295C>T (p.Leu4099Phe) n.3538C>T c.12397C>T (p.Leu4133Phe) c.12394C>T (p.Leu4132Phe) c.12373C>T (p.Leu4125Phe) c.12367C>T (p.Leu4123Phe) c.12361C>T (p.Leu4121Phe) c.12337C>T (p.Leu4113Phe) c.12160C>T (p.Leu4054Phe) c.12304C>T (p.Leu4102Phe) c.12376C>T (p.Leu4126Phe) | ClinVar dbSNP |
1 | g.237784056T>A | CA345413014 | RYR2 | c.*3436T>A (n.*3436T>A) c.12332T>A (p.Leu4111His) c.12365T>A (p.Leu4122His) c.4521T>A c.12344T>A (p.Leu4115His) c.2397T>A c.12296T>A (p.Leu4099His) n.3539T>A c.12398T>A (p.Leu4133His) c.12395T>A (p.Leu4132His) c.12374T>A (p.Leu4125His) c.12368T>A (p.Leu4123His) c.12362T>A (p.Leu4121His) c.12338T>A (p.Leu4113His) c.12161T>A (p.Leu4054His) c.12305T>A (p.Leu4102His) c.12377T>A (p.Leu4126His) | |
1 | g.237784056T>C | CA345413012 | RYR2 | c.*3436T>C (n.*3436T>C) c.12332T>C (p.Leu4111Pro) c.12365T>C (p.Leu4122Pro) c.4521T>C c.12344T>C (p.Leu4115Pro) c.2397T>C c.12296T>C (p.Leu4099Pro) n.3539T>C c.12398T>C (p.Leu4133Pro) c.12395T>C (p.Leu4132Pro) c.12374T>C (p.Leu4125Pro) c.12368T>C (p.Leu4123Pro) c.12362T>C (p.Leu4121Pro) c.12338T>C (p.Leu4113Pro) c.12161T>C (p.Leu4054Pro) c.12305T>C (p.Leu4102Pro) c.12377T>C (p.Leu4126Pro) | |
1 | g.237784056T>G | CA345413013 | RYR2 | c.*3436T>G (n.*3436T>G) c.12332T>G (p.Leu4111Arg) c.12365T>G (p.Leu4122Arg) c.4521T>G c.12344T>G (p.Leu4115Arg) c.2397T>G c.12296T>G (p.Leu4099Arg) n.3539T>G c.12398T>G (p.Leu4133Arg) c.12395T>G (p.Leu4132Arg) c.12374T>G (p.Leu4125Arg) c.12368T>G (p.Leu4123Arg) c.12362T>G (p.Leu4121Arg) c.12338T>G (p.Leu4113Arg) c.12161T>G (p.Leu4054Arg) c.12305T>G (p.Leu4102Arg) c.12377T>G (p.Leu4126Arg) | ClinVar |
1 | g.237784057T>A | CA424032178 | RYR2 | c.*3437T>A (n.*3437T>A) c.12333T>A (p.Leu4111=) c.12366T>A (p.Leu4122=) c.4522T>A c.12345T>A (p.Leu4115=) c.2398T>A c.12297T>A (p.Leu4099=) n.3540T>A c.12399T>A (p.Leu4133=) c.12396T>A (p.Leu4132=) c.12375T>A (p.Leu4125=) c.12369T>A (p.Leu4123=) c.12363T>A (p.Leu4121=) c.12339T>A (p.Leu4113=) c.12162T>A (p.Leu4054=) c.12306T>A (p.Leu4102=) c.12378T>A (p.Leu4126=) | |
1 | g.237784057T>C | CA424032179 | RYR2 | c.*3437T>C (n.*3437T>C) c.12333T>C (p.Leu4111=) c.12366T>C (p.Leu4122=) c.4522T>C c.12345T>C (p.Leu4115=) c.2398T>C c.12297T>C (p.Leu4099=) n.3540T>C c.12399T>C (p.Leu4133=) c.12396T>C (p.Leu4132=) c.12375T>C (p.Leu4125=) c.12369T>C (p.Leu4123=) c.12363T>C (p.Leu4121=) c.12339T>C (p.Leu4113=) c.12162T>C (p.Leu4054=) c.12306T>C (p.Leu4102=) c.12378T>C (p.Leu4126=) | |
1 | g.237784057T>G | CA424032180 | RYR2 | c.*3437T>G (n.*3437T>G) c.12333T>G (p.Leu4111=) c.12366T>G (p.Leu4122=) c.4522T>G c.12345T>G (p.Leu4115=) c.2398T>G c.12297T>G (p.Leu4099=) n.3540T>G c.12399T>G (p.Leu4133=) c.12396T>G (p.Leu4132=) c.12375T>G (p.Leu4125=) c.12369T>G (p.Leu4123=) c.12363T>G (p.Leu4121=) c.12339T>G (p.Leu4113=) c.12162T>G (p.Leu4054=) c.12306T>G (p.Leu4102=) c.12378T>G (p.Leu4126=) | |
1 | g.237784058C>A | CA345413015 | RYR2 | c.*3438C>A (n.*3438C>A) c.12334C>A (p.Gln4112Lys) c.12367C>A (p.Gln4123Lys) c.4523C>A c.12346C>A (p.Gln4116Lys) c.2399C>A c.12298C>A (p.Gln4100Lys) n.3541C>A c.12400C>A (p.Gln4134Lys) c.12397C>A (p.Gln4133Lys) c.12376C>A (p.Gln4126Lys) c.12370C>A (p.Gln4124Lys) c.12364C>A (p.Gln4122Lys) c.12340C>A (p.Gln4114Lys) c.12163C>A (p.Gln4055Lys) c.12307C>A (p.Gln4103Lys) c.12379C>A (p.Gln4127Lys) | |
1 | g.237784058C>G | CA345413016 | RYR2 | c.*3438C>G (n.*3438C>G) c.12334C>G (p.Gln4112Glu) c.12367C>G (p.Gln4123Glu) c.4523C>G c.12346C>G (p.Gln4116Glu) c.2399C>G c.12298C>G (p.Gln4100Glu) n.3541C>G c.12400C>G (p.Gln4134Glu) c.12397C>G (p.Gln4133Glu) c.12376C>G (p.Gln4126Glu) c.12370C>G (p.Gln4124Glu) c.12364C>G (p.Gln4122Glu) c.12340C>G (p.Gln4114Glu) c.12163C>G (p.Gln4055Glu) c.12307C>G (p.Gln4103Glu) c.12379C>G (p.Gln4127Glu) | |
1 | g.237784058C>T | CA345413017 | RYR2 | c.*3438C>T (n.*3438C>T) c.12334C>T (p.Gln4112Ter) c.12367C>T (p.Gln4123Ter) c.4523C>T c.12346C>T (p.Gln4116Ter) c.2399C>T c.12298C>T (p.Gln4100Ter) n.3541C>T c.12400C>T (p.Gln4134Ter) c.12397C>T (p.Gln4133Ter) c.12376C>T (p.Gln4126Ter) c.12370C>T (p.Gln4124Ter) c.12364C>T (p.Gln4122Ter) c.12340C>T (p.Gln4114Ter) c.12163C>T (p.Gln4055Ter) c.12307C>T (p.Gln4103Ter) c.12379C>T (p.Gln4127Ter) | |
1 | g.237784059A= | CA2487482371 | RYR2 | c.*3439A= (n.*3439A=) c.12335A= (p.Gln4112=) c.12368A= (p.Gln4123=) c.4524A= c.12347A= (p.Gln4116=) c.2400A= c.12299A= (p.Gln4100=) n.3542A= c.12401A= (p.Gln4134=) c.12398A= (p.Gln4133=) c.12377A= (p.Gln4126=) c.12371A= (p.Gln4124=) c.12365A= (p.Gln4122=) c.12341A= (p.Gln4114=) c.12164A= (p.Gln4055=) c.12308A= (p.Gln4103=) c.12380A= (p.Gln4127=) | |
1 | g.237784059A>C | CA345413018 | RYR2 | c.*3439A>C (n.*3439A>C) c.12335A>C (p.Gln4112Pro) c.12368A>C (p.Gln4123Pro) c.4524A>C c.12347A>C (p.Gln4116Pro) c.2400A>C c.12299A>C (p.Gln4100Pro) n.3542A>C c.12401A>C (p.Gln4134Pro) c.12398A>C (p.Gln4133Pro) c.12377A>C (p.Gln4126Pro) c.12371A>C (p.Gln4124Pro) c.12365A>C (p.Gln4122Pro) c.12341A>C (p.Gln4114Pro) c.12164A>C (p.Gln4055Pro) c.12308A>C (p.Gln4103Pro) c.12380A>C (p.Gln4127Pro) | |
1 | g.237784059A>G | CA345413019 | RYR2 | c.*3439A>G (n.*3439A>G) c.12335A>G (p.Gln4112Arg) c.12368A>G (p.Gln4123Arg) c.4524A>G c.12347A>G (p.Gln4116Arg) c.2400A>G c.12299A>G (p.Gln4100Arg) n.3542A>G c.12401A>G (p.Gln4134Arg) c.12398A>G (p.Gln4133Arg) c.12377A>G (p.Gln4126Arg) c.12371A>G (p.Gln4124Arg) c.12365A>G (p.Gln4122Arg) c.12341A>G (p.Gln4114Arg) c.12164A>G (p.Gln4055Arg) c.12308A>G (p.Gln4103Arg) c.12380A>G (p.Gln4127Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784059A>T | CA345413020 | RYR2 | c.*3439A>T (n.*3439A>T) c.12335A>T (p.Gln4112Leu) c.12368A>T (p.Gln4123Leu) c.4524A>T c.12347A>T (p.Gln4116Leu) c.2400A>T c.12299A>T (p.Gln4100Leu) n.3542A>T c.12401A>T (p.Gln4134Leu) c.12398A>T (p.Gln4133Leu) c.12377A>T (p.Gln4126Leu) c.12371A>T (p.Gln4124Leu) c.12365A>T (p.Gln4122Leu) c.12341A>T (p.Gln4114Leu) c.12164A>T (p.Gln4055Leu) c.12308A>T (p.Gln4103Leu) c.12380A>T (p.Gln4127Leu) | |
1 | g.237784060G>A | CA424032182 | RYR2 | c.*3440G>A (n.*3440G>A) c.12336G>A (p.Gln4112=) c.12369G>A (p.Gln4123=) c.4525G>A c.12348G>A (p.Gln4116=) c.2401G>A c.12300G>A (p.Gln4100=) n.3543G>A c.12402G>A (p.Gln4134=) c.12399G>A (p.Gln4133=) c.12378G>A (p.Gln4126=) c.12372G>A (p.Gln4124=) c.12366G>A (p.Gln4122=) c.12342G>A (p.Gln4114=) c.12165G>A (p.Gln4055=) c.12309G>A (p.Gln4103=) c.12381G>A (p.Gln4127=) | |
1 | g.237784060G>C | CA345413021 | RYR2 | c.*3440G>C (n.*3440G>C) c.12336G>C (p.Gln4112His) c.12369G>C (p.Gln4123His) c.4525G>C c.12348G>C (p.Gln4116His) c.2401G>C c.12300G>C (p.Gln4100His) n.3543G>C c.12402G>C (p.Gln4134His) c.12399G>C (p.Gln4133His) c.12378G>C (p.Gln4126His) c.12372G>C (p.Gln4124His) c.12366G>C (p.Gln4122His) c.12342G>C (p.Gln4114His) c.12165G>C (p.Gln4055His) c.12309G>C (p.Gln4103His) c.12381G>C (p.Gln4127His) | |
1 | g.237784060G>T | CA345413022 | RYR2 | c.*3440G>T (n.*3440G>T) c.12336G>T (p.Gln4112His) c.12369G>T (p.Gln4123His) c.4525G>T c.12348G>T (p.Gln4116His) c.2401G>T c.12300G>T (p.Gln4100His) n.3543G>T c.12402G>T (p.Gln4134His) c.12399G>T (p.Gln4133His) c.12378G>T (p.Gln4126His) c.12372G>T (p.Gln4124His) c.12366G>T (p.Gln4122His) c.12342G>T (p.Gln4114His) c.12165G>T (p.Gln4055His) c.12309G>T (p.Gln4103His) c.12381G>T (p.Gln4127His) | ClinVar dbSNP |
1 | g.237784061A>C | CA345413023 | RYR2 | c.*3441A>C (n.*3441A>C) c.12337A>C (p.Thr4113Pro) c.12370A>C (p.Thr4124Pro) c.4526A>C c.12349A>C (p.Thr4117Pro) c.2402A>C c.12301A>C (p.Thr4101Pro) n.3544A>C c.12403A>C (p.Thr4135Pro) c.12400A>C (p.Thr4134Pro) c.12379A>C (p.Thr4127Pro) c.12373A>C (p.Thr4125Pro) c.12367A>C (p.Thr4123Pro) c.12343A>C (p.Thr4115Pro) c.12166A>C (p.Thr4056Pro) c.12310A>C (p.Thr4104Pro) c.12382A>C (p.Thr4128Pro) | |
1 | g.237784061A>G | CA345413024 | RYR2 | c.*3441A>G (n.*3441A>G) c.12337A>G (p.Thr4113Ala) c.12370A>G (p.Thr4124Ala) c.4526A>G c.12349A>G (p.Thr4117Ala) c.2402A>G c.12301A>G (p.Thr4101Ala) n.3544A>G c.12403A>G (p.Thr4135Ala) c.12400A>G (p.Thr4134Ala) c.12379A>G (p.Thr4127Ala) c.12373A>G (p.Thr4125Ala) c.12367A>G (p.Thr4123Ala) c.12343A>G (p.Thr4115Ala) c.12166A>G (p.Thr4056Ala) c.12310A>G (p.Thr4104Ala) c.12382A>G (p.Thr4128Ala) | |
1 | g.237784061A>T | CA345413025 | RYR2 | c.*3441A>T (n.*3441A>T) c.12337A>T (p.Thr4113Ser) c.12370A>T (p.Thr4124Ser) c.4526A>T c.12349A>T (p.Thr4117Ser) c.2402A>T c.12301A>T (p.Thr4101Ser) n.3544A>T c.12403A>T (p.Thr4135Ser) c.12400A>T (p.Thr4134Ser) c.12379A>T (p.Thr4127Ser) c.12373A>T (p.Thr4125Ser) c.12367A>T (p.Thr4123Ser) c.12343A>T (p.Thr4115Ser) c.12166A>T (p.Thr4056Ser) c.12310A>T (p.Thr4104Ser) c.12382A>T (p.Thr4128Ser) | |
1 | g.237784062C>A | CA345413027 | RYR2 | c.*3442C>A (n.*3442C>A) c.12338C>A (p.Thr4113Asn) c.12371C>A (p.Thr4124Asn) c.4527C>A c.12350C>A (p.Thr4117Asn) c.2403C>A c.12302C>A (p.Thr4101Asn) n.3545C>A c.12404C>A (p.Thr4135Asn) c.12401C>A (p.Thr4134Asn) c.12380C>A (p.Thr4127Asn) c.12374C>A (p.Thr4125Asn) c.12368C>A (p.Thr4123Asn) c.12344C>A (p.Thr4115Asn) c.12167C>A (p.Thr4056Asn) c.12311C>A (p.Thr4104Asn) c.12383C>A (p.Thr4128Asn) | COSMIC COSMIC |
1 | g.237784062C>G | CA345413028 | RYR2 | c.*3442C>G (n.*3442C>G) c.12338C>G (p.Thr4113Ser) c.12371C>G (p.Thr4124Ser) c.4527C>G c.12350C>G (p.Thr4117Ser) c.2403C>G c.12302C>G (p.Thr4101Ser) n.3545C>G c.12404C>G (p.Thr4135Ser) c.12401C>G (p.Thr4134Ser) c.12380C>G (p.Thr4127Ser) c.12374C>G (p.Thr4125Ser) c.12368C>G (p.Thr4123Ser) c.12344C>G (p.Thr4115Ser) c.12167C>G (p.Thr4056Ser) c.12311C>G (p.Thr4104Ser) c.12383C>G (p.Thr4128Ser) | |
1 | g.237784062C>T | CA345413026 | RYR2 | c.*3442C>T (n.*3442C>T) c.12338C>T (p.Thr4113Ile) c.12371C>T (p.Thr4124Ile) c.4527C>T c.12350C>T (p.Thr4117Ile) c.2403C>T c.12302C>T (p.Thr4101Ile) n.3545C>T c.12404C>T (p.Thr4135Ile) c.12401C>T (p.Thr4134Ile) c.12380C>T (p.Thr4127Ile) c.12374C>T (p.Thr4125Ile) c.12368C>T (p.Thr4123Ile) c.12344C>T (p.Thr4115Ile) c.12167C>T (p.Thr4056Ile) c.12311C>T (p.Thr4104Ile) c.12383C>T (p.Thr4128Ile) | |
1 | g.237784063T>A | CA424032186 | RYR2 | c.*3443T>A (n.*3443T>A) c.12339T>A (p.Thr4113=) c.12372T>A (p.Thr4124=) c.4528T>A c.12351T>A (p.Thr4117=) c.2404T>A c.12303T>A (p.Thr4101=) n.3546T>A c.12405T>A (p.Thr4135=) c.12402T>A (p.Thr4134=) c.12381T>A (p.Thr4127=) c.12375T>A (p.Thr4125=) c.12369T>A (p.Thr4123=) c.12345T>A (p.Thr4115=) c.12168T>A (p.Thr4056=) c.12312T>A (p.Thr4104=) c.12384T>A (p.Thr4128=) | |
1 | g.237784063T>C | CA424032188 | RYR2 | c.*3443T>C (n.*3443T>C) c.12339T>C (p.Thr4113=) c.12372T>C (p.Thr4124=) c.4528T>C c.12351T>C (p.Thr4117=) c.2404T>C c.12303T>C (p.Thr4101=) n.3546T>C c.12405T>C (p.Thr4135=) c.12402T>C (p.Thr4134=) c.12381T>C (p.Thr4127=) c.12375T>C (p.Thr4125=) c.12369T>C (p.Thr4123=) c.12345T>C (p.Thr4115=) c.12168T>C (p.Thr4056=) c.12312T>C (p.Thr4104=) c.12384T>C (p.Thr4128=) | gnomAD v4 |
1 | g.237784063T>G | CA424032189 | RYR2 | c.*3443T>G (n.*3443T>G) c.12339T>G (p.Thr4113=) c.12372T>G (p.Thr4124=) c.4528T>G c.12351T>G (p.Thr4117=) c.2404T>G c.12303T>G (p.Thr4101=) n.3546T>G c.12405T>G (p.Thr4135=) c.12402T>G (p.Thr4134=) c.12381T>G (p.Thr4127=) c.12375T>G (p.Thr4125=) c.12369T>G (p.Thr4123=) c.12345T>G (p.Thr4115=) c.12168T>G (p.Thr4056=) c.12312T>G (p.Thr4104=) c.12384T>G (p.Thr4128=) | |
1 | g.237784064T>A | CA345413029 | RYR2 | c.*3444T>A (n.*3444T>A) c.12340T>A (p.Phe4114Ile) c.12373T>A (p.Phe4125Ile) c.4529T>A c.12352T>A (p.Phe4118Ile) c.2405T>A c.12304T>A (p.Phe4102Ile) n.3547T>A c.12406T>A (p.Phe4136Ile) c.12403T>A (p.Phe4135Ile) c.12382T>A (p.Phe4128Ile) c.12376T>A (p.Phe4126Ile) c.12370T>A (p.Phe4124Ile) c.12346T>A (p.Phe4116Ile) c.12169T>A (p.Phe4057Ile) c.12313T>A (p.Phe4105Ile) c.12385T>A (p.Phe4129Ile) | |
1 | g.237784064T>C | CA345413030 | RYR2 | c.*3444T>C (n.*3444T>C) c.12340T>C (p.Phe4114Leu) c.12373T>C (p.Phe4125Leu) c.4529T>C c.12352T>C (p.Phe4118Leu) c.2405T>C c.12304T>C (p.Phe4102Leu) n.3547T>C c.12406T>C (p.Phe4136Leu) c.12403T>C (p.Phe4135Leu) c.12382T>C (p.Phe4128Leu) c.12376T>C (p.Phe4126Leu) c.12370T>C (p.Phe4124Leu) c.12346T>C (p.Phe4116Leu) c.12169T>C (p.Phe4057Leu) c.12313T>C (p.Phe4105Leu) c.12385T>C (p.Phe4129Leu) | |
1 | g.237784064T>G | CA345413031 | RYR2 | c.*3444T>G (n.*3444T>G) c.12340T>G (p.Phe4114Val) c.12373T>G (p.Phe4125Val) c.4529T>G c.12352T>G (p.Phe4118Val) c.2405T>G c.12304T>G (p.Phe4102Val) n.3547T>G c.12406T>G (p.Phe4136Val) c.12403T>G (p.Phe4135Val) c.12382T>G (p.Phe4128Val) c.12376T>G (p.Phe4126Val) c.12370T>G (p.Phe4124Val) c.12346T>G (p.Phe4116Val) c.12169T>G (p.Phe4057Val) c.12313T>G (p.Phe4105Val) c.12385T>G (p.Phe4129Val) | |
1 | g.237784065T>A | CA345413032 | RYR2 | c.*3445T>A (n.*3445T>A) c.12341T>A (p.Phe4114Tyr) c.12374T>A (p.Phe4125Tyr) c.4530T>A c.12353T>A (p.Phe4118Tyr) c.2406T>A c.12305T>A (p.Phe4102Tyr) n.3548T>A c.12407T>A (p.Phe4136Tyr) c.12404T>A (p.Phe4135Tyr) c.12383T>A (p.Phe4128Tyr) c.12377T>A (p.Phe4126Tyr) c.12371T>A (p.Phe4124Tyr) c.12347T>A (p.Phe4116Tyr) c.12170T>A (p.Phe4057Tyr) c.12314T>A (p.Phe4105Tyr) c.12386T>A (p.Phe4129Tyr) | |
1 | g.237784065T>C | CA345413033 | RYR2 | c.*3445T>C (n.*3445T>C) c.12341T>C (p.Phe4114Ser) c.12374T>C (p.Phe4125Ser) c.4530T>C c.12353T>C (p.Phe4118Ser) c.2406T>C c.12305T>C (p.Phe4102Ser) n.3548T>C c.12407T>C (p.Phe4136Ser) c.12404T>C (p.Phe4135Ser) c.12383T>C (p.Phe4128Ser) c.12377T>C (p.Phe4126Ser) c.12371T>C (p.Phe4124Ser) c.12347T>C (p.Phe4116Ser) c.12170T>C (p.Phe4057Ser) c.12314T>C (p.Phe4105Ser) c.12386T>C (p.Phe4129Ser) | |
1 | g.237784065T>G | CA345413034 | RYR2 | c.*3445T>G (n.*3445T>G) c.12341T>G (p.Phe4114Cys) c.12374T>G (p.Phe4125Cys) c.4530T>G c.12353T>G (p.Phe4118Cys) c.2406T>G c.12305T>G (p.Phe4102Cys) n.3548T>G c.12407T>G (p.Phe4136Cys) c.12404T>G (p.Phe4135Cys) c.12383T>G (p.Phe4128Cys) c.12377T>G (p.Phe4126Cys) c.12371T>G (p.Phe4124Cys) c.12347T>G (p.Phe4116Cys) c.12170T>G (p.Phe4057Cys) c.12314T>G (p.Phe4105Cys) c.12386T>G (p.Phe4129Cys) | |
1 | g.237784066T>A | CA345413035 | RYR2 | c.*3446T>A (n.*3446T>A) c.12342T>A (p.Phe4114Leu) c.12375T>A (p.Phe4125Leu) c.4531T>A c.12354T>A (p.Phe4118Leu) c.2407T>A c.12306T>A (p.Phe4102Leu) n.3549T>A c.12408T>A (p.Phe4136Leu) c.12405T>A (p.Phe4135Leu) c.12384T>A (p.Phe4128Leu) c.12378T>A (p.Phe4126Leu) c.12372T>A (p.Phe4124Leu) c.12348T>A (p.Phe4116Leu) c.12171T>A (p.Phe4057Leu) c.12315T>A (p.Phe4105Leu) c.12387T>A (p.Phe4129Leu) | |
1 | g.237784066T>C | CA424032039 | RYR2 | c.*3446T>C (n.*3446T>C) c.12342T>C (p.Phe4114=) c.12375T>C (p.Phe4125=) c.4531T>C c.12354T>C (p.Phe4118=) c.2407T>C c.12306T>C (p.Phe4102=) n.3549T>C c.12408T>C (p.Phe4136=) c.12405T>C (p.Phe4135=) c.12384T>C (p.Phe4128=) c.12378T>C (p.Phe4126=) c.12372T>C (p.Phe4124=) c.12348T>C (p.Phe4116=) c.12171T>C (p.Phe4057=) c.12315T>C (p.Phe4105=) c.12387T>C (p.Phe4129=) | ClinVar |
1 | g.237784066T>G | CA345413036 | RYR2 | c.*3446T>G (n.*3446T>G) c.12342T>G (p.Phe4114Leu) c.12375T>G (p.Phe4125Leu) c.4531T>G c.12354T>G (p.Phe4118Leu) c.2407T>G c.12306T>G (p.Phe4102Leu) n.3549T>G c.12408T>G (p.Phe4136Leu) c.12405T>G (p.Phe4135Leu) c.12384T>G (p.Phe4128Leu) c.12378T>G (p.Phe4126Leu) c.12372T>G (p.Phe4124Leu) c.12348T>G (p.Phe4116Leu) c.12171T>G (p.Phe4057Leu) c.12315T>G (p.Phe4105Leu) c.12387T>G (p.Phe4129Leu) | |
1 | g.237784067C>A | CA345413037 | RYR2 | c.*3447C>A (n.*3447C>A) c.12343C>A (p.Leu4115Met) c.12376C>A (p.Leu4126Met) c.4532C>A c.12355C>A (p.Leu4119Met) c.2408C>A c.12307C>A (p.Leu4103Met) n.3550C>A c.12409C>A (p.Leu4137Met) c.12406C>A (p.Leu4136Met) c.12385C>A (p.Leu4129Met) c.12379C>A (p.Leu4127Met) c.12373C>A (p.Leu4125Met) c.12349C>A (p.Leu4117Met) c.12172C>A (p.Leu4058Met) c.12316C>A (p.Leu4106Met) c.12388C>A (p.Leu4130Met) | |
1 | g.237784067C>G | CA345413038 | RYR2 | c.*3447C>G (n.*3447C>G) c.12343C>G (p.Leu4115Val) c.12376C>G (p.Leu4126Val) c.4532C>G c.12355C>G (p.Leu4119Val) c.2408C>G c.12307C>G (p.Leu4103Val) n.3550C>G c.12409C>G (p.Leu4137Val) c.12406C>G (p.Leu4136Val) c.12385C>G (p.Leu4129Val) c.12379C>G (p.Leu4127Val) c.12373C>G (p.Leu4125Val) c.12349C>G (p.Leu4117Val) c.12172C>G (p.Leu4058Val) c.12316C>G (p.Leu4106Val) c.12388C>G (p.Leu4130Val) | |
1 | g.237784067C>T | CA424032040 | RYR2 | c.*3447C>T (n.*3447C>T) c.12343C>T (p.Leu4115=) c.12376C>T (p.Leu4126=) c.4532C>T c.12355C>T (p.Leu4119=) c.2408C>T c.12307C>T (p.Leu4103=) n.3550C>T c.12409C>T (p.Leu4137=) c.12406C>T (p.Leu4136=) c.12385C>T (p.Leu4129=) c.12379C>T (p.Leu4127=) c.12373C>T (p.Leu4125=) c.12349C>T (p.Leu4117=) c.12172C>T (p.Leu4058=) c.12316C>T (p.Leu4106=) c.12388C>T (p.Leu4130=) | |
1 | g.237784068T>A | CA345413039 | RYR2 | c.*3448T>A (n.*3448T>A) c.12344T>A (p.Leu4115Gln) c.12377T>A (p.Leu4126Gln) c.4533T>A c.12356T>A (p.Leu4119Gln) c.2409T>A c.12308T>A (p.Leu4103Gln) n.3551T>A c.12410T>A (p.Leu4137Gln) c.12407T>A (p.Leu4136Gln) c.12386T>A (p.Leu4129Gln) c.12380T>A (p.Leu4127Gln) c.12374T>A (p.Leu4125Gln) c.12350T>A (p.Leu4117Gln) c.12173T>A (p.Leu4058Gln) c.12317T>A (p.Leu4106Gln) c.12389T>A (p.Leu4130Gln) | |
1 | g.237784068T>C | CA345413040 | RYR2 | c.*3448T>C (n.*3448T>C) c.12344T>C (p.Leu4115Pro) c.12377T>C (p.Leu4126Pro) c.4533T>C c.12356T>C (p.Leu4119Pro) c.2409T>C c.12308T>C (p.Leu4103Pro) n.3551T>C c.12410T>C (p.Leu4137Pro) c.12407T>C (p.Leu4136Pro) c.12386T>C (p.Leu4129Pro) c.12380T>C (p.Leu4127Pro) c.12374T>C (p.Leu4125Pro) c.12350T>C (p.Leu4117Pro) c.12173T>C (p.Leu4058Pro) c.12317T>C (p.Leu4106Pro) c.12389T>C (p.Leu4130Pro) | |
1 | g.237784068T>G | CA345413041 | RYR2 | c.*3448T>G (n.*3448T>G) c.12344T>G (p.Leu4115Arg) c.12377T>G (p.Leu4126Arg) c.4533T>G c.12356T>G (p.Leu4119Arg) c.2409T>G c.12308T>G (p.Leu4103Arg) n.3551T>G c.12410T>G (p.Leu4137Arg) c.12407T>G (p.Leu4136Arg) c.12386T>G (p.Leu4129Arg) c.12380T>G (p.Leu4127Arg) c.12374T>G (p.Leu4125Arg) c.12350T>G (p.Leu4117Arg) c.12173T>G (p.Leu4058Arg) c.12317T>G (p.Leu4106Arg) c.12389T>G (p.Leu4130Arg) | |
1 | g.237784069G>A | CA424032041 | RYR2 | c.*3449G>A (n.*3449G>A) c.12345G>A (p.Leu4115=) c.12378G>A (p.Leu4126=) c.4534G>A c.12357G>A (p.Leu4119=) c.2410G>A c.12309G>A (p.Leu4103=) n.3552G>A c.12411G>A (p.Leu4137=) c.12408G>A (p.Leu4136=) c.12387G>A (p.Leu4129=) c.12381G>A (p.Leu4127=) c.12375G>A (p.Leu4125=) c.12351G>A (p.Leu4117=) c.12174G>A (p.Leu4058=) c.12318G>A (p.Leu4106=) c.12390G>A (p.Leu4130=) | ClinVar dbSNP |
1 | g.237784069G>C | CA424032042 | RYR2 | c.*3449G>C (n.*3449G>C) c.12345G>C (p.Leu4115=) c.12378G>C (p.Leu4126=) c.4534G>C c.12357G>C (p.Leu4119=) c.2410G>C c.12309G>C (p.Leu4103=) n.3552G>C c.12411G>C (p.Leu4137=) c.12408G>C (p.Leu4136=) c.12387G>C (p.Leu4129=) c.12381G>C (p.Leu4127=) c.12375G>C (p.Leu4125=) c.12351G>C (p.Leu4117=) c.12174G>C (p.Leu4058=) c.12318G>C (p.Leu4106=) c.12390G>C (p.Leu4130=) | gnomAD v4 |
1 | g.237784069G>T | CA424032043 | RYR2 | c.*3449G>T (n.*3449G>T) c.12345G>T (p.Leu4115=) c.12378G>T (p.Leu4126=) c.4534G>T c.12357G>T (p.Leu4119=) c.2410G>T c.12309G>T (p.Leu4103=) n.3552G>T c.12411G>T (p.Leu4137=) c.12408G>T (p.Leu4136=) c.12387G>T (p.Leu4129=) c.12381G>T (p.Leu4127=) c.12375G>T (p.Leu4125=) c.12351G>T (p.Leu4117=) c.12174G>T (p.Leu4058=) c.12318G>T (p.Leu4106=) c.12390G>T (p.Leu4130=) | |
1 | g.237784070G>A | CA345413044 | RYR2 | c.*3450G>A (n.*3450G>A) c.12346G>A (p.Glu4116Lys) c.12379G>A (p.Glu4127Lys) c.4535G>A c.12358G>A (p.Glu4120Lys) c.2411G>A c.12310G>A (p.Glu4104Lys) n.3553G>A c.12412G>A (p.Glu4138Lys) c.12409G>A (p.Glu4137Lys) c.12388G>A (p.Glu4130Lys) c.12382G>A (p.Glu4128Lys) c.12376G>A (p.Glu4126Lys) c.12352G>A (p.Glu4118Lys) c.12175G>A (p.Glu4059Lys) c.12319G>A (p.Glu4107Lys) c.12391G>A (p.Glu4131Lys) | COSMIC COSMIC |
1 | g.237784070G>C | CA345413043 | RYR2 | c.*3450G>C (n.*3450G>C) c.12346G>C (p.Glu4116Gln) c.12379G>C (p.Glu4127Gln) c.4535G>C c.12358G>C (p.Glu4120Gln) c.2411G>C c.12310G>C (p.Glu4104Gln) n.3553G>C c.12412G>C (p.Glu4138Gln) c.12409G>C (p.Glu4137Gln) c.12388G>C (p.Glu4130Gln) c.12382G>C (p.Glu4128Gln) c.12376G>C (p.Glu4126Gln) c.12352G>C (p.Glu4118Gln) c.12175G>C (p.Glu4059Gln) c.12319G>C (p.Glu4107Gln) c.12391G>C (p.Glu4131Gln) | |
1 | g.237784070G>T | CA345413042 | RYR2 | c.*3450G>T (n.*3450G>T) c.12346G>T (p.Glu4116Ter) c.12379G>T (p.Glu4127Ter) c.4535G>T c.12358G>T (p.Glu4120Ter) c.2411G>T c.12310G>T (p.Glu4104Ter) n.3553G>T c.12412G>T (p.Glu4138Ter) c.12409G>T (p.Glu4137Ter) c.12388G>T (p.Glu4130Ter) c.12382G>T (p.Glu4128Ter) c.12376G>T (p.Glu4126Ter) c.12352G>T (p.Glu4118Ter) c.12175G>T (p.Glu4059Ter) c.12319G>T (p.Glu4107Ter) c.12391G>T (p.Glu4131Ter) | |
1 | g.237784071A>C | CA345413045 | RYR2 | c.*3451A>C (n.*3451A>C) c.12347A>C (p.Glu4116Ala) c.12380A>C (p.Glu4127Ala) c.4536A>C c.12359A>C (p.Glu4120Ala) c.2412A>C c.12311A>C (p.Glu4104Ala) n.3554A>C c.12413A>C (p.Glu4138Ala) c.12410A>C (p.Glu4137Ala) c.12389A>C (p.Glu4130Ala) c.12383A>C (p.Glu4128Ala) c.12377A>C (p.Glu4126Ala) c.12353A>C (p.Glu4118Ala) c.12176A>C (p.Glu4059Ala) c.12320A>C (p.Glu4107Ala) c.12392A>C (p.Glu4131Ala) | |
1 | g.237784071A>G | CA345413046 | RYR2 | c.*3451A>G (n.*3451A>G) c.12347A>G (p.Glu4116Gly) c.12380A>G (p.Glu4127Gly) c.4536A>G c.12359A>G (p.Glu4120Gly) c.2412A>G c.12311A>G (p.Glu4104Gly) n.3554A>G c.12413A>G (p.Glu4138Gly) c.12410A>G (p.Glu4137Gly) c.12389A>G (p.Glu4130Gly) c.12383A>G (p.Glu4128Gly) c.12377A>G (p.Glu4126Gly) c.12353A>G (p.Glu4118Gly) c.12176A>G (p.Glu4059Gly) c.12320A>G (p.Glu4107Gly) c.12392A>G (p.Glu4131Gly) | gnomAD v4 |
1 | g.237784071A>T | CA345413047 | RYR2 | c.*3451A>T (n.*3451A>T) c.12347A>T (p.Glu4116Val) c.12380A>T (p.Glu4127Val) c.4536A>T c.12359A>T (p.Glu4120Val) c.2412A>T c.12311A>T (p.Glu4104Val) n.3554A>T c.12413A>T (p.Glu4138Val) c.12410A>T (p.Glu4137Val) c.12389A>T (p.Glu4130Val) c.12383A>T (p.Glu4128Val) c.12377A>T (p.Glu4126Val) c.12353A>T (p.Glu4118Val) c.12176A>T (p.Glu4059Val) c.12320A>T (p.Glu4107Val) c.12392A>T (p.Glu4131Val) | |
1 | g.237784072A>C | CA345413048 | RYR2 | c.*3452A>C (n.*3452A>C) c.12348A>C (p.Glu4116Asp) c.12381A>C (p.Glu4127Asp) c.4537A>C c.12360A>C (p.Glu4120Asp) c.2413A>C c.12312A>C (p.Glu4104Asp) n.3555A>C c.12414A>C (p.Glu4138Asp) c.12411A>C (p.Glu4137Asp) c.12390A>C (p.Glu4130Asp) c.12384A>C (p.Glu4128Asp) c.12378A>C (p.Glu4126Asp) c.12354A>C (p.Glu4118Asp) c.12177A>C (p.Glu4059Asp) c.12321A>C (p.Glu4107Asp) c.12393A>C (p.Glu4131Asp) | |
1 | g.237784072A>G | CA424032049 | RYR2 | c.*3452A>G (n.*3452A>G) c.12348A>G (p.Glu4116=) c.12381A>G (p.Glu4127=) c.4537A>G c.12360A>G (p.Glu4120=) c.2413A>G c.12312A>G (p.Glu4104=) n.3555A>G c.12414A>G (p.Glu4138=) c.12411A>G (p.Glu4137=) c.12390A>G (p.Glu4130=) c.12384A>G (p.Glu4128=) c.12378A>G (p.Glu4126=) c.12354A>G (p.Glu4118=) c.12177A>G (p.Glu4059=) c.12321A>G (p.Glu4107=) c.12393A>G (p.Glu4131=) | |
1 | g.237784072A>T | CA345413049 | RYR2 | c.*3452A>T (n.*3452A>T) c.12348A>T (p.Glu4116Asp) c.12381A>T (p.Glu4127Asp) c.4537A>T c.12360A>T (p.Glu4120Asp) c.2413A>T c.12312A>T (p.Glu4104Asp) n.3555A>T c.12414A>T (p.Glu4138Asp) c.12411A>T (p.Glu4137Asp) c.12390A>T (p.Glu4130Asp) c.12384A>T (p.Glu4128Asp) c.12378A>T (p.Glu4126Asp) c.12354A>T (p.Glu4118Asp) c.12177A>T (p.Glu4059Asp) c.12321A>T (p.Glu4107Asp) c.12393A>T (p.Glu4131Asp) | |
1 | g.237784073T>A | CA345413050 | RYR2 | c.*3453T>A (n.*3453T>A) c.12349T>A (p.Leu4117Ile) c.12382T>A (p.Leu4128Ile) c.4538T>A c.12361T>A (p.Leu4121Ile) c.2414T>A c.12313T>A (p.Leu4105Ile) n.3556T>A c.12415T>A (p.Leu4139Ile) c.12412T>A (p.Leu4138Ile) c.12391T>A (p.Leu4131Ile) c.12385T>A (p.Leu4129Ile) c.12379T>A (p.Leu4127Ile) c.12355T>A (p.Leu4119Ile) c.12178T>A (p.Leu4060Ile) c.12322T>A (p.Leu4108Ile) c.12394T>A (p.Leu4132Ile) | |
1 | g.237784073T>C | CA424032050 | RYR2 | c.*3453T>C (n.*3453T>C) c.12349T>C (p.Leu4117=) c.12382T>C (p.Leu4128=) c.4538T>C c.12361T>C (p.Leu4121=) c.2414T>C c.12313T>C (p.Leu4105=) n.3556T>C c.12415T>C (p.Leu4139=) c.12412T>C (p.Leu4138=) c.12391T>C (p.Leu4131=) c.12385T>C (p.Leu4129=) c.12379T>C (p.Leu4127=) c.12355T>C (p.Leu4119=) c.12178T>C (p.Leu4060=) c.12322T>C (p.Leu4108=) c.12394T>C (p.Leu4132=) | |
1 | g.237784073T>G | CA345413051 | RYR2 | c.*3453T>G (n.*3453T>G) c.12349T>G (p.Leu4117Val) c.12382T>G (p.Leu4128Val) c.4538T>G c.12361T>G (p.Leu4121Val) c.2414T>G c.12313T>G (p.Leu4105Val) n.3556T>G c.12415T>G (p.Leu4139Val) c.12412T>G (p.Leu4138Val) c.12391T>G (p.Leu4131Val) c.12385T>G (p.Leu4129Val) c.12379T>G (p.Leu4127Val) c.12355T>G (p.Leu4119Val) c.12178T>G (p.Leu4060Val) c.12322T>G (p.Leu4108Val) c.12394T>G (p.Leu4132Val) | |
1 | g.237784073T= | CA2487482372 | RYR2 | c.*3453T= (n.*3453T=) c.12349T= (p.Leu4117=) c.12382T= (p.Leu4128=) c.4538T= c.12361T= (p.Leu4121=) c.2414T= c.12313T= (p.Leu4105=) n.3556T= c.12415T= (p.Leu4139=) c.12412T= (p.Leu4138=) c.12391T= (p.Leu4131=) c.12385T= (p.Leu4129=) c.12379T= (p.Leu4127=) c.12355T= (p.Leu4119=) c.12178T= (p.Leu4060=) c.12322T= (p.Leu4108=) c.12394T= (p.Leu4132=) | |
1 | g.237784073_237784074insAA | CA2487482373 | RYR2 | c.*3453_*3454insAA (n.*3453_*3454insAA) c.12349_12350insAA (p.Leu4117Ter) c.12382_12383insAA (p.Leu4128Ter) c.4538_4539insAA c.12361_12362insAA (p.Leu4121Ter) c.2414_2415insAA c.12313_12314insAA (p.Leu4105Ter) n.3556_3557insAA c.12415_12416insAA (p.Leu4139Ter) c.12412_12413insAA (p.Leu4138Ter) c.12391_12392insAA (p.Leu4131Ter) c.12385_12386insAA (p.Leu4129Ter) c.12379_12380insAA (p.Leu4127Ter) c.12355_12356insAA (p.Leu4119Ter) c.12178_12179insAA (p.Leu4060Ter) c.12322_12323insAA (p.Leu4108Ter) c.12394_12395insAA (p.Leu4132Ter) | dbSNP |
1 | g.237784074T>A | CA345413052 | RYR2 | c.*3454T>A (n.*3454T>A) c.12350T>A (p.Leu4117Ter) c.12383T>A (p.Leu4128Ter) c.4539T>A c.12362T>A (p.Leu4121Ter) c.2415T>A c.12314T>A (p.Leu4105Ter) n.3557T>A c.12416T>A (p.Leu4139Ter) c.12413T>A (p.Leu4138Ter) c.12392T>A (p.Leu4131Ter) c.12386T>A (p.Leu4129Ter) c.12380T>A (p.Leu4127Ter) c.12356T>A (p.Leu4119Ter) c.12179T>A (p.Leu4060Ter) c.12323T>A (p.Leu4108Ter) c.12395T>A (p.Leu4132Ter) | |
1 | g.237784074T>C | CA345413053 | RYR2 | c.*3454T>C (n.*3454T>C) c.12350T>C (p.Leu4117Ser) c.12383T>C (p.Leu4128Ser) c.4539T>C c.12362T>C (p.Leu4121Ser) c.2415T>C c.12314T>C (p.Leu4105Ser) n.3557T>C c.12416T>C (p.Leu4139Ser) c.12413T>C (p.Leu4138Ser) c.12392T>C (p.Leu4131Ser) c.12386T>C (p.Leu4129Ser) c.12380T>C (p.Leu4127Ser) c.12356T>C (p.Leu4119Ser) c.12179T>C (p.Leu4060Ser) c.12323T>C (p.Leu4108Ser) c.12395T>C (p.Leu4132Ser) | |
1 | g.237784074T>G | CA345413054 | RYR2 | c.*3454T>G (n.*3454T>G) c.12350T>G (p.Leu4117Ter) c.12383T>G (p.Leu4128Ter) c.4539T>G c.12362T>G (p.Leu4121Ter) c.2415T>G c.12314T>G (p.Leu4105Ter) n.3557T>G c.12416T>G (p.Leu4139Ter) c.12413T>G (p.Leu4138Ter) c.12392T>G (p.Leu4131Ter) c.12386T>G (p.Leu4129Ter) c.12380T>G (p.Leu4127Ter) c.12356T>G (p.Leu4119Ter) c.12179T>G (p.Leu4060Ter) c.12323T>G (p.Leu4108Ter) c.12395T>G (p.Leu4132Ter) | |
1 | g.237784074_237784077delinsTAGC | CA2487482374 | RYR2 | c.*3454_*3457delinsTAGC (n.*3454_*3457delinsTAGC) c.12350_12353delinsTAGC (p.Leu4117=) c.12383_12386delinsTAGC (p.Leu4128=) c.4539_4542delinsTAGC c.12362_12365delinsTAGC (p.Leu4121=) c.2415_2418delinsTAGC c.12314_12317delinsTAGC (p.Leu4105=) n.3557_3560delinsTAGC c.12416_12419delinsTAGC (p.Leu4139=) c.12413_12416delinsTAGC (p.Leu4138=) c.12392_12395delinsTAGC (p.Leu4131=) c.12386_12389delinsTAGC (p.Leu4129=) c.12380_12383delinsTAGC (p.Leu4127=) c.12356_12359delinsTAGC (p.Leu4119=) c.12179_12182delinsTAGC (p.Leu4060=) c.12323_12326delinsTAGC (p.Leu4108=) c.12395_12398delinsTAGC (p.Leu4132=) | |
1 | g.237784075A>C | CA345413055 | RYR2 | c.*3455A>C (n.*3455A>C) c.12351A>C (p.Leu4117Phe) c.12384A>C (p.Leu4128Phe) c.4540A>C c.12363A>C (p.Leu4121Phe) c.2416A>C c.12315A>C (p.Leu4105Phe) n.3558A>C c.12417A>C (p.Leu4139Phe) c.12414A>C (p.Leu4138Phe) c.12393A>C (p.Leu4131Phe) c.12387A>C (p.Leu4129Phe) c.12381A>C (p.Leu4127Phe) c.12357A>C (p.Leu4119Phe) c.12180A>C (p.Leu4060Phe) c.12324A>C (p.Leu4108Phe) c.12396A>C (p.Leu4132Phe) | |
1 | g.237784075A>G | CA424032055 | RYR2 | c.*3455A>G (n.*3455A>G) c.12351A>G (p.Leu4117=) c.12384A>G (p.Leu4128=) c.4540A>G c.12363A>G (p.Leu4121=) c.2416A>G c.12315A>G (p.Leu4105=) n.3558A>G c.12417A>G (p.Leu4139=) c.12414A>G (p.Leu4138=) c.12393A>G (p.Leu4131=) c.12387A>G (p.Leu4129=) c.12381A>G (p.Leu4127=) c.12357A>G (p.Leu4119=) c.12180A>G (p.Leu4060=) c.12324A>G (p.Leu4108=) c.12396A>G (p.Leu4132=) | |
1 | g.237784075A>T | CA345413056 | RYR2 | c.*3455A>T (n.*3455A>T) c.12351A>T (p.Leu4117Phe) c.12384A>T (p.Leu4128Phe) c.4540A>T c.12363A>T (p.Leu4121Phe) c.2416A>T c.12315A>T (p.Leu4105Phe) n.3558A>T c.12417A>T (p.Leu4139Phe) c.12414A>T (p.Leu4138Phe) c.12393A>T (p.Leu4131Phe) c.12387A>T (p.Leu4129Phe) c.12381A>T (p.Leu4127Phe) c.12357A>T (p.Leu4119Phe) c.12180A>T (p.Leu4060Phe) c.12324A>T (p.Leu4108Phe) c.12396A>T (p.Leu4132Phe) | |
1 | g.237784077_237784079del | CA1139656705 | RYR2 | c.*3457_*3459del (n.*3457_*3459del) c.12353_12355del (p.Ala4118del) c.12386_12388del (p.Ala4129del) c.4542_4544del c.12365_12367del (p.Ala4122del) c.2418_2420del c.12317_12319del (p.Ala4106del) n.3560_3562del c.12419_12421del (p.Ala4140del) c.12416_12418del (p.Ala4139del) c.12395_12397del (p.Ala4132del) c.12389_12391del (p.Ala4130del) c.12383_12385del (p.Ala4128del) c.12359_12361del (p.Ala4120del) c.12182_12184del (p.Ala4061del) c.12326_12328del (p.Ala4109del) c.12398_12400del (p.Ala4133del) | ClinVar dbSNP |
1 | g.237784076G>A | CA066408 | RYR2 | c.*3456G>A (n.*3456G>A) c.12352G>A (p.Ala4118Thr) c.12385G>A (p.Ala4129Thr) c.4541G>A c.12364G>A (p.Ala4122Thr) c.2417G>A c.12316G>A (p.Ala4106Thr) n.3559G>A c.12418G>A (p.Ala4140Thr) c.12415G>A (p.Ala4139Thr) c.12394G>A (p.Ala4132Thr) c.12388G>A (p.Ala4130Thr) c.12382G>A (p.Ala4128Thr) c.12358G>A (p.Ala4120Thr) c.12181G>A (p.Ala4061Thr) c.12325G>A (p.Ala4109Thr) c.12397G>A (p.Ala4133Thr) | |
1 | g.237784076G>C | CA345413058 | RYR2 | c.*3456G>C (n.*3456G>C) c.12352G>C (p.Ala4118Pro) c.12385G>C (p.Ala4129Pro) c.4541G>C c.12364G>C (p.Ala4122Pro) c.2417G>C c.12316G>C (p.Ala4106Pro) n.3559G>C c.12418G>C (p.Ala4140Pro) c.12415G>C (p.Ala4139Pro) c.12394G>C (p.Ala4132Pro) c.12388G>C (p.Ala4130Pro) c.12382G>C (p.Ala4128Pro) c.12358G>C (p.Ala4120Pro) c.12181G>C (p.Ala4061Pro) c.12325G>C (p.Ala4109Pro) c.12397G>C (p.Ala4133Pro) | |
1 | g.237784076G>T | CA345413057 | RYR2 | c.*3456G>T (n.*3456G>T) c.12352G>T (p.Ala4118Ser) c.12385G>T (p.Ala4129Ser) c.4541G>T c.12364G>T (p.Ala4122Ser) c.2417G>T c.12316G>T (p.Ala4106Ser) n.3559G>T c.12418G>T (p.Ala4140Ser) c.12415G>T (p.Ala4139Ser) c.12394G>T (p.Ala4132Ser) c.12388G>T (p.Ala4130Ser) c.12382G>T (p.Ala4128Ser) c.12358G>T (p.Ala4120Ser) c.12181G>T (p.Ala4061Ser) c.12325G>T (p.Ala4109Ser) c.12397G>T (p.Ala4133Ser) | |
1 | g.237784077C>A | CA345413059 | RYR2 | c.*3457C>A (n.*3457C>A) c.12353C>A (p.Ala4118Glu) c.12386C>A (p.Ala4129Glu) c.4542C>A c.12365C>A (p.Ala4122Glu) c.2418C>A c.12317C>A (p.Ala4106Glu) n.3560C>A c.12419C>A (p.Ala4140Glu) c.12416C>A (p.Ala4139Glu) c.12395C>A (p.Ala4132Glu) c.12389C>A (p.Ala4130Glu) c.12383C>A (p.Ala4128Glu) c.12359C>A (p.Ala4120Glu) c.12182C>A (p.Ala4061Glu) c.12326C>A (p.Ala4109Glu) c.12398C>A (p.Ala4133Glu) | COSMIC |
1 | g.237784077C>G | CA345413061 | RYR2 | c.*3457C>G (n.*3457C>G) c.12353C>G (p.Ala4118Gly) c.12386C>G (p.Ala4129Gly) c.4542C>G c.12365C>G (p.Ala4122Gly) c.2418C>G c.12317C>G (p.Ala4106Gly) n.3560C>G c.12419C>G (p.Ala4140Gly) c.12416C>G (p.Ala4139Gly) c.12395C>G (p.Ala4132Gly) c.12389C>G (p.Ala4130Gly) c.12383C>G (p.Ala4128Gly) c.12359C>G (p.Ala4120Gly) c.12182C>G (p.Ala4061Gly) c.12326C>G (p.Ala4109Gly) c.12398C>G (p.Ala4133Gly) | |
1 | g.237784077C>T | CA345413060 | RYR2 | c.*3457C>T (n.*3457C>T) c.12353C>T (p.Ala4118Val) c.12386C>T (p.Ala4129Val) c.4542C>T c.12365C>T (p.Ala4122Val) c.2418C>T c.12317C>T (p.Ala4106Val) n.3560C>T c.12419C>T (p.Ala4140Val) c.12416C>T (p.Ala4139Val) c.12395C>T (p.Ala4132Val) c.12389C>T (p.Ala4130Val) c.12383C>T (p.Ala4128Val) c.12359C>T (p.Ala4120Val) c.12182C>T (p.Ala4061Val) c.12326C>T (p.Ala4109Val) c.12398C>T (p.Ala4133Val) | |
1 | g.237784078A= | CA1143912160 | RYR2 | c.*3458A= (n.*3458A=) c.12354A= (p.Ala4118=) c.12387A= (p.Ala4129=) c.4543A= c.12366A= (p.Ala4122=) c.2419A= c.12318A= (p.Ala4106=) n.3561A= c.12420A= (p.Ala4140=) c.12417A= (p.Ala4139=) c.12396A= (p.Ala4132=) c.12390A= (p.Ala4130=) c.12384A= (p.Ala4128=) c.12360A= (p.Ala4120=) c.12183A= (p.Ala4061=) c.12327A= (p.Ala4109=) c.12399A= (p.Ala4133=) | |
1 | g.237784078A>C | CA424032061 | RYR2 | c.*3458A>C (n.*3458A>C) c.12354A>C (p.Ala4118=) c.12387A>C (p.Ala4129=) c.4543A>C c.12366A>C (p.Ala4122=) c.2419A>C c.12318A>C (p.Ala4106=) n.3561A>C c.12420A>C (p.Ala4140=) c.12417A>C (p.Ala4139=) c.12396A>C (p.Ala4132=) c.12390A>C (p.Ala4130=) c.12384A>C (p.Ala4128=) c.12360A>C (p.Ala4120=) c.12183A>C (p.Ala4061=) c.12327A>C (p.Ala4109=) c.12399A>C (p.Ala4133=) | |
1 | g.237784078A>G | CA066410 | RYR2 | c.*3458A>G (n.*3458A>G) c.12354A>G (p.Ala4118=) c.12387A>G (p.Ala4129=) c.4543A>G c.12366A>G (p.Ala4122=) c.2419A>G c.12318A>G (p.Ala4106=) n.3561A>G c.12420A>G (p.Ala4140=) c.12417A>G (p.Ala4139=) c.12396A>G (p.Ala4132=) c.12390A>G (p.Ala4130=) c.12384A>G (p.Ala4128=) c.12360A>G (p.Ala4120=) c.12183A>G (p.Ala4061=) c.12327A>G (p.Ala4109=) c.12399A>G (p.Ala4133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784078A>T | CA424032059 | RYR2 | c.*3458A>T (n.*3458A>T) c.12354A>T (p.Ala4118=) c.12387A>T (p.Ala4129=) c.4543A>T c.12366A>T (p.Ala4122=) c.2419A>T c.12318A>T (p.Ala4106=) n.3561A>T c.12420A>T (p.Ala4140=) c.12417A>T (p.Ala4139=) c.12396A>T (p.Ala4132=) c.12390A>T (p.Ala4130=) c.12384A>T (p.Ala4128=) c.12360A>T (p.Ala4120=) c.12183A>T (p.Ala4061=) c.12327A>T (p.Ala4109=) c.12399A>T (p.Ala4133=) | |
1 | g.237784079G>A | CA345413062 | RYR2 | c.*3459G>A (n.*3459G>A) c.12355G>A (p.Glu4119Lys) c.12388G>A (p.Glu4130Lys) c.4544G>A c.12367G>A (p.Glu4123Lys) c.2420G>A c.12319G>A (p.Glu4107Lys) n.3562G>A c.12421G>A (p.Glu4141Lys) c.12418G>A (p.Glu4140Lys) c.12397G>A (p.Glu4133Lys) c.12391G>A (p.Glu4131Lys) c.12385G>A (p.Glu4129Lys) c.12361G>A (p.Glu4121Lys) c.12184G>A (p.Glu4062Lys) c.12328G>A (p.Glu4110Lys) c.12400G>A (p.Glu4134Lys) | |
1 | g.237784079G>C | CA345413063 | RYR2 | c.*3459G>C (n.*3459G>C) c.12355G>C (p.Glu4119Gln) c.12388G>C (p.Glu4130Gln) c.4544G>C c.12367G>C (p.Glu4123Gln) c.2420G>C c.12319G>C (p.Glu4107Gln) n.3562G>C c.12421G>C (p.Glu4141Gln) c.12418G>C (p.Glu4140Gln) c.12397G>C (p.Glu4133Gln) c.12391G>C (p.Glu4131Gln) c.12385G>C (p.Glu4129Gln) c.12361G>C (p.Glu4121Gln) c.12184G>C (p.Glu4062Gln) c.12328G>C (p.Glu4110Gln) c.12400G>C (p.Glu4134Gln) | |
1 | g.237784079G>T | CA345413064 | RYR2 | c.*3459G>T (n.*3459G>T) c.12355G>T (p.Glu4119Ter) c.12388G>T (p.Glu4130Ter) c.4544G>T c.12367G>T (p.Glu4123Ter) c.2420G>T c.12319G>T (p.Glu4107Ter) n.3562G>T c.12421G>T (p.Glu4141Ter) c.12418G>T (p.Glu4140Ter) c.12397G>T (p.Glu4133Ter) c.12391G>T (p.Glu4131Ter) c.12385G>T (p.Glu4129Ter) c.12361G>T (p.Glu4121Ter) c.12184G>T (p.Glu4062Ter) c.12328G>T (p.Glu4110Ter) c.12400G>T (p.Glu4134Ter) | |
1 | g.237784080A>C | CA345413065 | RYR2 | c.*3460A>C (n.*3460A>C) c.12356A>C (p.Glu4119Ala) c.12389A>C (p.Glu4130Ala) c.4545A>C c.12368A>C (p.Glu4123Ala) c.2421A>C c.12320A>C (p.Glu4107Ala) n.3563A>C c.12422A>C (p.Glu4141Ala) c.12419A>C (p.Glu4140Ala) c.12398A>C (p.Glu4133Ala) c.12392A>C (p.Glu4131Ala) c.12386A>C (p.Glu4129Ala) c.12362A>C (p.Glu4121Ala) c.12185A>C (p.Glu4062Ala) c.12329A>C (p.Glu4110Ala) c.12401A>C (p.Glu4134Ala) | |
1 | g.237784080A>G | CA345413066 | RYR2 | c.*3460A>G (n.*3460A>G) c.12356A>G (p.Glu4119Gly) c.12389A>G (p.Glu4130Gly) c.4545A>G c.12368A>G (p.Glu4123Gly) c.2421A>G c.12320A>G (p.Glu4107Gly) n.3563A>G c.12422A>G (p.Glu4141Gly) c.12419A>G (p.Glu4140Gly) c.12398A>G (p.Glu4133Gly) c.12392A>G (p.Glu4131Gly) c.12386A>G (p.Glu4129Gly) c.12362A>G (p.Glu4121Gly) c.12185A>G (p.Glu4062Gly) c.12329A>G (p.Glu4110Gly) c.12401A>G (p.Glu4134Gly) | ClinVar |
1 | g.237784080A>T | CA345413067 | RYR2 | c.*3460A>T (n.*3460A>T) c.12356A>T (p.Glu4119Val) c.12389A>T (p.Glu4130Val) c.4545A>T c.12368A>T (p.Glu4123Val) c.2421A>T c.12320A>T (p.Glu4107Val) n.3563A>T c.12422A>T (p.Glu4141Val) c.12419A>T (p.Glu4140Val) c.12398A>T (p.Glu4133Val) c.12392A>T (p.Glu4131Val) c.12386A>T (p.Glu4129Val) c.12362A>T (p.Glu4121Val) c.12185A>T (p.Glu4062Val) c.12329A>T (p.Glu4110Val) c.12401A>T (p.Glu4134Val) | |
1 | g.237784081G>A | CA424032069 | RYR2 | c.*3461G>A (n.*3461G>A) c.12357G>A (p.Glu4119=) c.12390G>A (p.Glu4130=) c.4546G>A c.12369G>A (p.Glu4123=) c.2422G>A c.12321G>A (p.Glu4107=) n.3564G>A c.12423G>A (p.Glu4141=) c.12420G>A (p.Glu4140=) c.12399G>A (p.Glu4133=) c.12393G>A (p.Glu4131=) c.12387G>A (p.Glu4129=) c.12363G>A (p.Glu4121=) c.12186G>A (p.Glu4062=) c.12330G>A (p.Glu4110=) c.12402G>A (p.Glu4134=) | |
1 | g.237784081G>C | CA085173 | RYR2 | c.*3461G>C (n.*3461G>C) c.12357G>C (p.Glu4119Asp) c.12390G>C (p.Glu4130Asp) c.4546G>C c.12369G>C (p.Glu4123Asp) c.2422G>C c.12321G>C (p.Glu4107Asp) n.3564G>C c.12423G>C (p.Glu4141Asp) c.12420G>C (p.Glu4140Asp) c.12399G>C (p.Glu4133Asp) c.12393G>C (p.Glu4131Asp) c.12387G>C (p.Glu4129Asp) c.12363G>C (p.Glu4121Asp) c.12186G>C (p.Glu4062Asp) c.12330G>C (p.Glu4110Asp) c.12402G>C (p.Glu4134Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784081G= | CA2487482375 | RYR2 | c.*3461G= (n.*3461G=) c.12357G= (p.Glu4119=) c.12390G= (p.Glu4130=) c.4546G= c.12369G= (p.Glu4123=) c.2422G= c.12321G= (p.Glu4107=) n.3564G= c.12423G= (p.Glu4141=) c.12420G= (p.Glu4140=) c.12399G= (p.Glu4133=) c.12393G= (p.Glu4131=) c.12387G= (p.Glu4129=) c.12363G= (p.Glu4121=) c.12186G= (p.Glu4062=) c.12330G= (p.Glu4110=) c.12402G= (p.Glu4134=) | |
1 | g.237784081G>T | CA345413068 | RYR2 | c.*3461G>T (n.*3461G>T) c.12357G>T (p.Glu4119Asp) c.12390G>T (p.Glu4130Asp) c.4546G>T c.12369G>T (p.Glu4123Asp) c.2422G>T c.12321G>T (p.Glu4107Asp) n.3564G>T c.12423G>T (p.Glu4141Asp) c.12420G>T (p.Glu4140Asp) c.12399G>T (p.Glu4133Asp) c.12393G>T (p.Glu4131Asp) c.12387G>T (p.Glu4129Asp) c.12363G>T (p.Glu4121Asp) c.12186G>T (p.Glu4062Asp) c.12330G>T (p.Glu4110Asp) c.12402G>T (p.Glu4134Asp) | ClinVar dbSNP |
1 | g.237784082A>C | CA345413069 | RYR2 | c.*3462A>C (n.*3462A>C) c.12358A>C (p.Ser4120Arg) c.12391A>C (p.Ser4131Arg) c.4547A>C c.12370A>C (p.Ser4124Arg) c.2423A>C c.12322A>C (p.Ser4108Arg) n.3565A>C c.12424A>C (p.Ser4142Arg) c.12421A>C (p.Ser4141Arg) c.12400A>C (p.Ser4134Arg) c.12394A>C (p.Ser4132Arg) c.12388A>C (p.Ser4130Arg) c.12364A>C (p.Ser4122Arg) c.12187A>C (p.Ser4063Arg) c.12331A>C (p.Ser4111Arg) c.12403A>C (p.Ser4135Arg) | |
1 | g.237784082A>G | CA345413070 | RYR2 | c.*3462A>G (n.*3462A>G) c.12358A>G (p.Ser4120Gly) c.12391A>G (p.Ser4131Gly) c.4547A>G c.12370A>G (p.Ser4124Gly) c.2423A>G c.12322A>G (p.Ser4108Gly) n.3565A>G c.12424A>G (p.Ser4142Gly) c.12421A>G (p.Ser4141Gly) c.12400A>G (p.Ser4134Gly) c.12394A>G (p.Ser4132Gly) c.12388A>G (p.Ser4130Gly) c.12364A>G (p.Ser4122Gly) c.12187A>G (p.Ser4063Gly) c.12331A>G (p.Ser4111Gly) c.12403A>G (p.Ser4135Gly) | |
1 | g.237784082A>T | CA345413071 | RYR2 | c.*3462A>T (n.*3462A>T) c.12358A>T (p.Ser4120Cys) c.12391A>T (p.Ser4131Cys) c.4547A>T c.12370A>T (p.Ser4124Cys) c.2423A>T c.12322A>T (p.Ser4108Cys) n.3565A>T c.12424A>T (p.Ser4142Cys) c.12421A>T (p.Ser4141Cys) c.12400A>T (p.Ser4134Cys) c.12394A>T (p.Ser4132Cys) c.12388A>T (p.Ser4130Cys) c.12364A>T (p.Ser4122Cys) c.12187A>T (p.Ser4063Cys) c.12331A>T (p.Ser4111Cys) c.12403A>T (p.Ser4135Cys) | |
1 | g.237784083G>A | CA345413072 | RYR2 | c.*3463G>A (n.*3463G>A) c.12359G>A (p.Ser4120Asn) c.12392G>A (p.Ser4131Asn) c.4548G>A c.12371G>A (p.Ser4124Asn) c.2424G>A c.12323G>A (p.Ser4108Asn) n.3566G>A c.12425G>A (p.Ser4142Asn) c.12422G>A (p.Ser4141Asn) c.12401G>A (p.Ser4134Asn) c.12395G>A (p.Ser4132Asn) c.12389G>A (p.Ser4130Asn) c.12365G>A (p.Ser4122Asn) c.12188G>A (p.Ser4063Asn) c.12332G>A (p.Ser4111Asn) c.12404G>A (p.Ser4135Asn) | |
1 | g.237784083G>C | CA345413073 | RYR2 | c.*3463G>C (n.*3463G>C) c.12359G>C (p.Ser4120Thr) c.12392G>C (p.Ser4131Thr) c.4548G>C c.12371G>C (p.Ser4124Thr) c.2424G>C c.12323G>C (p.Ser4108Thr) n.3566G>C c.12425G>C (p.Ser4142Thr) c.12422G>C (p.Ser4141Thr) c.12401G>C (p.Ser4134Thr) c.12395G>C (p.Ser4132Thr) c.12389G>C (p.Ser4130Thr) c.12365G>C (p.Ser4122Thr) c.12188G>C (p.Ser4063Thr) c.12332G>C (p.Ser4111Thr) c.12404G>C (p.Ser4135Thr) | dbSNP |
1 | g.237784083G= | CA2487482376 | RYR2 | c.*3463G= (n.*3463G=) c.12359G= (p.Ser4120=) c.12392G= (p.Ser4131=) c.4548G= c.12371G= (p.Ser4124=) c.2424G= c.12323G= (p.Ser4108=) n.3566G= c.12425G= (p.Ser4142=) c.12422G= (p.Ser4141=) c.12401G= (p.Ser4134=) c.12395G= (p.Ser4132=) c.12389G= (p.Ser4130=) c.12365G= (p.Ser4122=) c.12188G= (p.Ser4063=) c.12332G= (p.Ser4111=) c.12404G= (p.Ser4135=) | |
1 | g.237784083G>T | CA345413074 | RYR2 | c.*3463G>T (n.*3463G>T) c.12359G>T (p.Ser4120Ile) c.12392G>T (p.Ser4131Ile) c.4548G>T c.12371G>T (p.Ser4124Ile) c.2424G>T c.12323G>T (p.Ser4108Ile) n.3566G>T c.12425G>T (p.Ser4142Ile) c.12422G>T (p.Ser4141Ile) c.12401G>T (p.Ser4134Ile) c.12395G>T (p.Ser4132Ile) c.12389G>T (p.Ser4130Ile) c.12365G>T (p.Ser4122Ile) c.12188G>T (p.Ser4063Ile) c.12332G>T (p.Ser4111Ile) c.12404G>T (p.Ser4135Ile) | |
1 | g.237784084C>A | CA007482 | RYR2 | c.*3464C>A (n.*3464C>A) c.12360C>A (p.Ser4120Arg) c.12393C>A (p.Ser4131Arg) c.4549C>A c.12372C>A (p.Ser4124Arg) c.2425C>A c.12324C>A (p.Ser4108Arg) n.3567C>A c.12426C>A (p.Ser4142Arg) c.12423C>A (p.Ser4141Arg) c.12402C>A (p.Ser4134Arg) c.12396C>A (p.Ser4132Arg) c.12390C>A (p.Ser4130Arg) c.12366C>A (p.Ser4122Arg) c.12189C>A (p.Ser4063Arg) c.12333C>A (p.Ser4111Arg) c.12405C>A (p.Ser4135Arg) | ClinVar dbSNP |
1 | g.237784084C= | CA2487482377 | RYR2 | c.*3464C= (n.*3464C=) c.12360C= (p.Ser4120=) c.12393C= (p.Ser4131=) c.4549C= c.12372C= (p.Ser4124=) c.2425C= c.12324C= (p.Ser4108=) n.3567C= c.12426C= (p.Ser4142=) c.12423C= (p.Ser4141=) c.12402C= (p.Ser4134=) c.12396C= (p.Ser4132=) c.12390C= (p.Ser4130=) c.12366C= (p.Ser4122=) c.12189C= (p.Ser4063=) c.12333C= (p.Ser4111=) c.12405C= (p.Ser4135=) | |
1 | g.237784084C>G | CA345413075 | RYR2 | c.*3464C>G (n.*3464C>G) c.12360C>G (p.Ser4120Arg) c.12393C>G (p.Ser4131Arg) c.4549C>G c.12372C>G (p.Ser4124Arg) c.2425C>G c.12324C>G (p.Ser4108Arg) n.3567C>G c.12426C>G (p.Ser4142Arg) c.12423C>G (p.Ser4141Arg) c.12402C>G (p.Ser4134Arg) c.12396C>G (p.Ser4132Arg) c.12390C>G (p.Ser4130Arg) c.12366C>G (p.Ser4122Arg) c.12189C>G (p.Ser4063Arg) c.12333C>G (p.Ser4111Arg) c.12405C>G (p.Ser4135Arg) | |
1 | g.237784084C>T | CA085174 | RYR2 | c.*3464C>T (n.*3464C>T) c.12360C>T (p.Ser4120=) c.12393C>T (p.Ser4131=) c.4549C>T c.12372C>T (p.Ser4124=) c.2425C>T c.12324C>T (p.Ser4108=) n.3567C>T c.12426C>T (p.Ser4142=) c.12423C>T (p.Ser4141=) c.12402C>T (p.Ser4134=) c.12396C>T (p.Ser4132=) c.12390C>T (p.Ser4130=) c.12366C>T (p.Ser4122=) c.12189C>T (p.Ser4063=) c.12333C>T (p.Ser4111=) c.12405C>T (p.Ser4135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784085G>A | CA085176 | RYR2 | c.*3465G>A (n.*3465G>A) c.12361G>A (p.Val4121Ile) c.12394G>A (p.Val4132Ile) c.4550G>A c.12373G>A (p.Val4125Ile) c.2426G>A c.12325G>A (p.Val4109Ile) n.3568G>A c.12427G>A (p.Val4143Ile) c.12424G>A (p.Val4142Ile) c.12403G>A (p.Val4135Ile) c.12397G>A (p.Val4133Ile) c.12391G>A (p.Val4131Ile) c.12367G>A (p.Val4123Ile) c.12190G>A (p.Val4064Ile) c.12334G>A (p.Val4112Ile) c.12406G>A (p.Val4136Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784085G>C | CA345413076 | RYR2 | c.*3465G>C (n.*3465G>C) c.12361G>C (p.Val4121Leu) c.12394G>C (p.Val4132Leu) c.4550G>C c.12373G>C (p.Val4125Leu) c.2426G>C c.12325G>C (p.Val4109Leu) n.3568G>C c.12427G>C (p.Val4143Leu) c.12424G>C (p.Val4142Leu) c.12403G>C (p.Val4135Leu) c.12397G>C (p.Val4133Leu) c.12391G>C (p.Val4131Leu) c.12367G>C (p.Val4123Leu) c.12190G>C (p.Val4064Leu) c.12334G>C (p.Val4112Leu) c.12406G>C (p.Val4136Leu) | |
1 | g.237784085G= | CA2487482378 | RYR2 | c.*3465G= (n.*3465G=) c.12361G= (p.Val4121=) c.12394G= (p.Val4132=) c.4550G= c.12373G= (p.Val4125=) c.2426G= c.12325G= (p.Val4109=) n.3568G= c.12427G= (p.Val4143=) c.12424G= (p.Val4142=) c.12403G= (p.Val4135=) c.12397G= (p.Val4133=) c.12391G= (p.Val4131=) c.12367G= (p.Val4123=) c.12190G= (p.Val4064=) c.12334G= (p.Val4112=) c.12406G= (p.Val4136=) | |
1 | g.237784085G>T | CA007493 | RYR2 | c.*3465G>T (n.*3465G>T) c.12361G>T (p.Val4121Phe) c.12394G>T (p.Val4132Phe) c.4550G>T c.12373G>T (p.Val4125Phe) c.2426G>T c.12325G>T (p.Val4109Phe) n.3568G>T c.12427G>T (p.Val4143Phe) c.12424G>T (p.Val4142Phe) c.12403G>T (p.Val4135Phe) c.12397G>T (p.Val4133Phe) c.12391G>T (p.Val4131Phe) c.12367G>T (p.Val4123Phe) c.12190G>T (p.Val4064Phe) c.12334G>T (p.Val4112Phe) c.12406G>T (p.Val4136Phe) | ClinVar dbSNP COSMIC COSMIC |