Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.237784086T>A | CA345413077 | RYR2 | c.*3466T>A (n.*3466T>A) c.12362T>A (p.Val4121Asp) c.12395T>A (p.Val4132Asp) c.4551T>A c.12374T>A (p.Val4125Asp) c.2427T>A c.12326T>A (p.Val4109Asp) n.3569T>A c.12428T>A (p.Val4143Asp) c.12425T>A (p.Val4142Asp) c.12404T>A (p.Val4135Asp) c.12398T>A (p.Val4133Asp) c.12392T>A (p.Val4131Asp) c.12368T>A (p.Val4123Asp) c.12191T>A (p.Val4064Asp) c.12335T>A (p.Val4112Asp) c.12407T>A (p.Val4136Asp) | |
1 | g.237784086T>C | CA345413078 | RYR2 | c.*3466T>C (n.*3466T>C) c.12362T>C (p.Val4121Ala) c.12395T>C (p.Val4132Ala) c.4551T>C c.12374T>C (p.Val4125Ala) c.2427T>C c.12326T>C (p.Val4109Ala) n.3569T>C c.12428T>C (p.Val4143Ala) c.12425T>C (p.Val4142Ala) c.12404T>C (p.Val4135Ala) c.12398T>C (p.Val4133Ala) c.12392T>C (p.Val4131Ala) c.12368T>C (p.Val4123Ala) c.12191T>C (p.Val4064Ala) c.12335T>C (p.Val4112Ala) c.12407T>C (p.Val4136Ala) | gnomAD v4 |
1 | g.237784086T>G | CA345413079 | RYR2 | c.*3466T>G (n.*3466T>G) c.12362T>G (p.Val4121Gly) c.12395T>G (p.Val4132Gly) c.4551T>G c.12374T>G (p.Val4125Gly) c.2427T>G c.12326T>G (p.Val4109Gly) n.3569T>G c.12428T>G (p.Val4143Gly) c.12425T>G (p.Val4142Gly) c.12404T>G (p.Val4135Gly) c.12398T>G (p.Val4133Gly) c.12392T>G (p.Val4131Gly) c.12368T>G (p.Val4123Gly) c.12191T>G (p.Val4064Gly) c.12335T>G (p.Val4112Gly) c.12407T>G (p.Val4136Gly) | |
1 | g.237784087C>A | CA424032084 | RYR2 | c.*3467C>A (n.*3467C>A) c.12363C>A (p.Val4121=) c.12396C>A (p.Val4132=) c.4552C>A c.12375C>A (p.Val4125=) c.2428C>A c.12327C>A (p.Val4109=) n.3570C>A c.12429C>A (p.Val4143=) c.12426C>A (p.Val4142=) c.12405C>A (p.Val4135=) c.12399C>A (p.Val4133=) c.12393C>A (p.Val4131=) c.12369C>A (p.Val4123=) c.12192C>A (p.Val4064=) c.12336C>A (p.Val4112=) c.12408C>A (p.Val4136=) | |
1 | g.237784087C= | CA2487482379 | RYR2 | c.*3467C= (n.*3467C=) c.12363C= (p.Val4121=) c.12396C= (p.Val4132=) c.4552C= c.12375C= (p.Val4125=) c.2428C= c.12327C= (p.Val4109=) n.3570C= c.12429C= (p.Val4143=) c.12426C= (p.Val4142=) c.12405C= (p.Val4135=) c.12399C= (p.Val4133=) c.12393C= (p.Val4131=) c.12369C= (p.Val4123=) c.12192C= (p.Val4064=) c.12336C= (p.Val4112=) c.12408C= (p.Val4136=) | |
1 | g.237784087C>G | CA424032085 | RYR2 | c.*3467C>G (n.*3467C>G) c.12363C>G (p.Val4121=) c.12396C>G (p.Val4132=) c.4552C>G c.12375C>G (p.Val4125=) c.2428C>G c.12327C>G (p.Val4109=) n.3570C>G c.12429C>G (p.Val4143=) c.12426C>G (p.Val4142=) c.12405C>G (p.Val4135=) c.12399C>G (p.Val4133=) c.12393C>G (p.Val4131=) c.12369C>G (p.Val4123=) c.12192C>G (p.Val4064=) c.12336C>G (p.Val4112=) c.12408C>G (p.Val4136=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784087C>T | CA424032086 | RYR2 | c.*3467C>T (n.*3467C>T) c.12363C>T (p.Val4121=) c.12396C>T (p.Val4132=) c.4552C>T c.12375C>T (p.Val4125=) c.2428C>T c.12327C>T (p.Val4109=) n.3570C>T c.12429C>T (p.Val4143=) c.12426C>T (p.Val4142=) c.12405C>T (p.Val4135=) c.12399C>T (p.Val4133=) c.12393C>T (p.Val4131=) c.12369C>T (p.Val4123=) c.12192C>T (p.Val4064=) c.12336C>T (p.Val4112=) c.12408C>T (p.Val4136=) | gnomAD v4 |
1 | g.237784088C>A | CA345413080 | RYR2 | c.*3468C>A (n.*3468C>A) c.12364C>A (p.Leu4122Met) c.12397C>A (p.Leu4133Met) c.4553C>A c.12376C>A (p.Leu4126Met) c.2429C>A c.12328C>A (p.Leu4110Met) n.3571C>A c.12430C>A (p.Leu4144Met) c.12427C>A (p.Leu4143Met) c.12406C>A (p.Leu4136Met) c.12400C>A (p.Leu4134Met) c.12394C>A (p.Leu4132Met) c.12370C>A (p.Leu4124Met) c.12193C>A (p.Leu4065Met) c.12337C>A (p.Leu4113Met) c.12409C>A (p.Leu4137Met) | |
1 | g.237784088C= | CA2487482380 | RYR2 | c.*3468C= (n.*3468C=) c.12364C= (p.Leu4122=) c.12397C= (p.Leu4133=) c.4553C= c.12376C= (p.Leu4126=) c.2429C= c.12328C= (p.Leu4110=) n.3571C= c.12430C= (p.Leu4144=) c.12427C= (p.Leu4143=) c.12406C= (p.Leu4136=) c.12400C= (p.Leu4134=) c.12394C= (p.Leu4132=) c.12370C= (p.Leu4124=) c.12193C= (p.Leu4065=) c.12337C= (p.Leu4113=) c.12409C= (p.Leu4137=) | |
1 | g.237784088C>G | CA345413081 | RYR2 | c.*3468C>G (n.*3468C>G) c.12364C>G (p.Leu4122Val) c.12397C>G (p.Leu4133Val) c.4553C>G c.12376C>G (p.Leu4126Val) c.2429C>G c.12328C>G (p.Leu4110Val) n.3571C>G c.12430C>G (p.Leu4144Val) c.12427C>G (p.Leu4143Val) c.12406C>G (p.Leu4136Val) c.12400C>G (p.Leu4134Val) c.12394C>G (p.Leu4132Val) c.12370C>G (p.Leu4124Val) c.12193C>G (p.Leu4065Val) c.12337C>G (p.Leu4113Val) c.12409C>G (p.Leu4137Val) | |
1 | g.237784088C>T | CA39827544 | RYR2 | c.*3468C>T (n.*3468C>T) c.12364C>T (p.Leu4122=) c.12397C>T (p.Leu4133=) c.4553C>T c.12376C>T (p.Leu4126=) c.2429C>T c.12328C>T (p.Leu4110=) n.3571C>T c.12430C>T (p.Leu4144=) c.12427C>T (p.Leu4143=) c.12406C>T (p.Leu4136=) c.12400C>T (p.Leu4134=) c.12394C>T (p.Leu4132=) c.12370C>T (p.Leu4124=) c.12193C>T (p.Leu4065=) c.12337C>T (p.Leu4113=) c.12409C>T (p.Leu4137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784089T>A | CA345413082 | RYR2 | c.*3469T>A (n.*3469T>A) c.12365T>A (p.Leu4122Gln) c.12398T>A (p.Leu4133Gln) c.4554T>A c.12377T>A (p.Leu4126Gln) c.2430T>A c.12329T>A (p.Leu4110Gln) n.3572T>A c.12431T>A (p.Leu4144Gln) c.12428T>A (p.Leu4143Gln) c.12407T>A (p.Leu4136Gln) c.12401T>A (p.Leu4134Gln) c.12395T>A (p.Leu4132Gln) c.12371T>A (p.Leu4124Gln) c.12194T>A (p.Leu4065Gln) c.12338T>A (p.Leu4113Gln) c.12410T>A (p.Leu4137Gln) | |
1 | g.237784089T>C | CA345413083 | RYR2 | c.*3469T>C (n.*3469T>C) c.12365T>C (p.Leu4122Pro) c.12398T>C (p.Leu4133Pro) c.4554T>C c.12377T>C (p.Leu4126Pro) c.2430T>C c.12329T>C (p.Leu4110Pro) n.3572T>C c.12431T>C (p.Leu4144Pro) c.12428T>C (p.Leu4143Pro) c.12407T>C (p.Leu4136Pro) c.12401T>C (p.Leu4134Pro) c.12395T>C (p.Leu4132Pro) c.12371T>C (p.Leu4124Pro) c.12194T>C (p.Leu4065Pro) c.12338T>C (p.Leu4113Pro) c.12410T>C (p.Leu4137Pro) | |
1 | g.237784089T>G | CA345413084 | RYR2 | c.*3469T>G (n.*3469T>G) c.12365T>G (p.Leu4122Arg) c.12398T>G (p.Leu4133Arg) c.4554T>G c.12377T>G (p.Leu4126Arg) c.2430T>G c.12329T>G (p.Leu4110Arg) n.3572T>G c.12431T>G (p.Leu4144Arg) c.12428T>G (p.Leu4143Arg) c.12407T>G (p.Leu4136Arg) c.12401T>G (p.Leu4134Arg) c.12395T>G (p.Leu4132Arg) c.12371T>G (p.Leu4124Arg) c.12194T>G (p.Leu4065Arg) c.12338T>G (p.Leu4113Arg) c.12410T>G (p.Leu4137Arg) | ClinVar dbSNP |
1 | g.237784089T= | CA2487482381 | RYR2 | c.*3469T= (n.*3469T=) c.12365T= (p.Leu4122=) c.12398T= (p.Leu4133=) c.4554T= c.12377T= (p.Leu4126=) c.2430T= c.12329T= (p.Leu4110=) n.3572T= c.12431T= (p.Leu4144=) c.12428T= (p.Leu4143=) c.12407T= (p.Leu4136=) c.12401T= (p.Leu4134=) c.12395T= (p.Leu4132=) c.12371T= (p.Leu4124=) c.12194T= (p.Leu4065=) c.12338T= (p.Leu4113=) c.12410T= (p.Leu4137=) | |
1 | g.237784090G>A | CA424032091 | RYR2 | c.*3470G>A (n.*3470G>A) c.12366G>A (p.Leu4122=) c.12399G>A (p.Leu4133=) c.4555G>A c.12378G>A (p.Leu4126=) c.2431G>A c.12330G>A (p.Leu4110=) n.3573G>A c.12432G>A (p.Leu4144=) c.12429G>A (p.Leu4143=) c.12408G>A (p.Leu4136=) c.12402G>A (p.Leu4134=) c.12396G>A (p.Leu4132=) c.12372G>A (p.Leu4124=) c.12195G>A (p.Leu4065=) c.12339G>A (p.Leu4113=) c.12411G>A (p.Leu4137=) | ClinVar COSMIC COSMIC |
1 | g.237784090G>C | CA424032092 | RYR2 | c.*3470G>C (n.*3470G>C) c.12366G>C (p.Leu4122=) c.12399G>C (p.Leu4133=) c.4555G>C c.12378G>C (p.Leu4126=) c.2431G>C c.12330G>C (p.Leu4110=) n.3573G>C c.12432G>C (p.Leu4144=) c.12429G>C (p.Leu4143=) c.12408G>C (p.Leu4136=) c.12402G>C (p.Leu4134=) c.12396G>C (p.Leu4132=) c.12372G>C (p.Leu4124=) c.12195G>C (p.Leu4065=) c.12339G>C (p.Leu4113=) c.12411G>C (p.Leu4137=) | ClinVar dbSNP |
1 | g.237784090G= | CA2487482382 | RYR2 | c.*3470G= (n.*3470G=) c.12366G= (p.Leu4122=) c.12399G= (p.Leu4133=) c.4555G= c.12378G= (p.Leu4126=) c.2431G= c.12330G= (p.Leu4110=) n.3573G= c.12432G= (p.Leu4144=) c.12429G= (p.Leu4143=) c.12408G= (p.Leu4136=) c.12402G= (p.Leu4134=) c.12396G= (p.Leu4132=) c.12372G= (p.Leu4124=) c.12195G= (p.Leu4065=) c.12339G= (p.Leu4113=) c.12411G= (p.Leu4137=) | |
1 | g.237784090G>T | CA39827547 | RYR2 | c.*3470G>T (n.*3470G>T) c.12366G>T (p.Leu4122=) c.12399G>T (p.Leu4133=) c.4555G>T c.12378G>T (p.Leu4126=) c.2431G>T c.12330G>T (p.Leu4110=) n.3573G>T c.12432G>T (p.Leu4144=) c.12429G>T (p.Leu4143=) c.12408G>T (p.Leu4136=) c.12402G>T (p.Leu4134=) c.12396G>T (p.Leu4132=) c.12372G>T (p.Leu4124=) c.12195G>T (p.Leu4065=) c.12339G>T (p.Leu4113=) c.12411G>T (p.Leu4137=) | dbSNP |
1 | g.237784091A= | CA1148225104 | RYR2 | c.*3471A= (n.*3471A=) c.12367A= (p.Asn4123=) c.12400A= (p.Asn4134=) c.4556A= c.12379A= (p.Asn4127=) c.2432A= c.12331A= (p.Asn4111=) n.3574A= c.12433A= (p.Asn4145=) c.12430A= (p.Asn4144=) c.12409A= (p.Asn4137=) c.12403A= (p.Asn4135=) c.12397A= (p.Asn4133=) c.12373A= (p.Asn4125=) c.12196A= (p.Asn4066=) c.12340A= (p.Asn4114=) c.12412A= (p.Asn4138=) | |
1 | g.237784091A>C | CA007502 | RYR2 | c.*3471A>C (n.*3471A>C) c.12367A>C (p.Asn4123His) c.12400A>C (p.Asn4134His) c.4556A>C c.12379A>C (p.Asn4127His) c.2432A>C c.12331A>C (p.Asn4111His) n.3574A>C c.12433A>C (p.Asn4145His) c.12430A>C (p.Asn4144His) c.12409A>C (p.Asn4137His) c.12403A>C (p.Asn4135His) c.12397A>C (p.Asn4133His) c.12373A>C (p.Asn4125His) c.12196A>C (p.Asn4066His) c.12340A>C (p.Asn4114His) c.12412A>C (p.Asn4138His) | ClinVar dbSNP |
1 | g.237784091A>G | CA345413086 | RYR2 | c.*3471A>G (n.*3471A>G) c.12367A>G (p.Asn4123Asp) c.12400A>G (p.Asn4134Asp) c.4556A>G c.12379A>G (p.Asn4127Asp) c.2432A>G c.12331A>G (p.Asn4111Asp) n.3574A>G c.12433A>G (p.Asn4145Asp) c.12430A>G (p.Asn4144Asp) c.12409A>G (p.Asn4137Asp) c.12403A>G (p.Asn4135Asp) c.12397A>G (p.Asn4133Asp) c.12373A>G (p.Asn4125Asp) c.12196A>G (p.Asn4066Asp) c.12340A>G (p.Asn4114Asp) c.12412A>G (p.Asn4138Asp) | |
1 | g.237784091A>T | CA345413085 | RYR2 | c.*3471A>T (n.*3471A>T) c.12367A>T (p.Asn4123Tyr) c.12400A>T (p.Asn4134Tyr) c.4556A>T c.12379A>T (p.Asn4127Tyr) c.2432A>T c.12331A>T (p.Asn4111Tyr) n.3574A>T c.12433A>T (p.Asn4145Tyr) c.12430A>T (p.Asn4144Tyr) c.12409A>T (p.Asn4137Tyr) c.12403A>T (p.Asn4135Tyr) c.12397A>T (p.Asn4133Tyr) c.12373A>T (p.Asn4125Tyr) c.12196A>T (p.Asn4066Tyr) c.12340A>T (p.Asn4114Tyr) c.12412A>T (p.Asn4138Tyr) | |
1 | g.237784092A>C | CA345413087 | RYR2 | c.*3472A>C (n.*3472A>C) c.12368A>C (p.Asn4123Thr) c.12401A>C (p.Asn4134Thr) c.4557A>C c.12380A>C (p.Asn4127Thr) c.2433A>C c.12332A>C (p.Asn4111Thr) n.3575A>C c.12434A>C (p.Asn4145Thr) c.12431A>C (p.Asn4144Thr) c.12410A>C (p.Asn4137Thr) c.12404A>C (p.Asn4135Thr) c.12398A>C (p.Asn4133Thr) c.12374A>C (p.Asn4125Thr) c.12197A>C (p.Asn4066Thr) c.12341A>C (p.Asn4114Thr) c.12413A>C (p.Asn4138Thr) | |
1 | g.237784092A>G | CA345413088 | RYR2 | c.*3472A>G (n.*3472A>G) c.12368A>G (p.Asn4123Ser) c.12401A>G (p.Asn4134Ser) c.4557A>G c.12380A>G (p.Asn4127Ser) c.2433A>G c.12332A>G (p.Asn4111Ser) n.3575A>G c.12434A>G (p.Asn4145Ser) c.12431A>G (p.Asn4144Ser) c.12410A>G (p.Asn4137Ser) c.12404A>G (p.Asn4135Ser) c.12398A>G (p.Asn4133Ser) c.12374A>G (p.Asn4125Ser) c.12197A>G (p.Asn4066Ser) c.12341A>G (p.Asn4114Ser) c.12413A>G (p.Asn4138Ser) | |
1 | g.237784092A>T | CA345413089 | RYR2 | c.*3472A>T (n.*3472A>T) c.12368A>T (p.Asn4123Ile) c.12401A>T (p.Asn4134Ile) c.4557A>T c.12380A>T (p.Asn4127Ile) c.2433A>T c.12332A>T (p.Asn4111Ile) n.3575A>T c.12434A>T (p.Asn4145Ile) c.12431A>T (p.Asn4144Ile) c.12410A>T (p.Asn4137Ile) c.12404A>T (p.Asn4135Ile) c.12398A>T (p.Asn4133Ile) c.12374A>T (p.Asn4125Ile) c.12197A>T (p.Asn4066Ile) c.12341A>T (p.Asn4114Ile) c.12413A>T (p.Asn4138Ile) | |
1 | g.237784093T>A | CA345413090 | RYR2 | c.*3473T>A (n.*3473T>A) c.12369T>A (p.Asn4123Lys) c.12402T>A (p.Asn4134Lys) c.4558T>A c.12381T>A (p.Asn4127Lys) c.2434T>A c.12333T>A (p.Asn4111Lys) n.3576T>A c.12435T>A (p.Asn4145Lys) c.12432T>A (p.Asn4144Lys) c.12411T>A (p.Asn4137Lys) c.12405T>A (p.Asn4135Lys) c.12399T>A (p.Asn4133Lys) c.12375T>A (p.Asn4125Lys) c.12198T>A (p.Asn4066Lys) c.12342T>A (p.Asn4114Lys) c.12414T>A (p.Asn4138Lys) | |
1 | g.237784093T>C | CA424032099 | RYR2 | c.*3473T>C (n.*3473T>C) c.12369T>C (p.Asn4123=) c.12402T>C (p.Asn4134=) c.4558T>C c.12381T>C (p.Asn4127=) c.2434T>C c.12333T>C (p.Asn4111=) n.3576T>C c.12435T>C (p.Asn4145=) c.12432T>C (p.Asn4144=) c.12411T>C (p.Asn4137=) c.12405T>C (p.Asn4135=) c.12399T>C (p.Asn4133=) c.12375T>C (p.Asn4125=) c.12198T>C (p.Asn4066=) c.12342T>C (p.Asn4114=) c.12414T>C (p.Asn4138=) | |
1 | g.237784093T>G | CA345413091 | RYR2 | c.*3473T>G (n.*3473T>G) c.12369T>G (p.Asn4123Lys) c.12402T>G (p.Asn4134Lys) c.4558T>G c.12381T>G (p.Asn4127Lys) c.2434T>G c.12333T>G (p.Asn4111Lys) n.3576T>G c.12435T>G (p.Asn4145Lys) c.12432T>G (p.Asn4144Lys) c.12411T>G (p.Asn4137Lys) c.12405T>G (p.Asn4135Lys) c.12399T>G (p.Asn4133Lys) c.12375T>G (p.Asn4125Lys) c.12198T>G (p.Asn4066Lys) c.12342T>G (p.Asn4114Lys) c.12414T>G (p.Asn4138Lys) | |
1 | g.237784094T>A | CA345413092 | RYR2 | c.*3474T>A (n.*3474T>A) c.12370T>A (p.Tyr4124Asn) c.12403T>A (p.Tyr4135Asn) c.4559T>A c.12382T>A (p.Tyr4128Asn) c.2435T>A c.12334T>A (p.Tyr4112Asn) n.3577T>A c.12436T>A (p.Tyr4146Asn) c.12433T>A (p.Tyr4145Asn) c.12412T>A (p.Tyr4138Asn) c.12406T>A (p.Tyr4136Asn) c.12400T>A (p.Tyr4134Asn) c.12376T>A (p.Tyr4126Asn) c.12199T>A (p.Tyr4067Asn) c.12343T>A (p.Tyr4115Asn) c.12415T>A (p.Tyr4139Asn) | |
1 | g.237784094T>C | CA345413093 | RYR2 | c.*3474T>C (n.*3474T>C) c.12370T>C (p.Tyr4124His) c.12403T>C (p.Tyr4135His) c.4559T>C c.12382T>C (p.Tyr4128His) c.2435T>C c.12334T>C (p.Tyr4112His) n.3577T>C c.12436T>C (p.Tyr4146His) c.12433T>C (p.Tyr4145His) c.12412T>C (p.Tyr4138His) c.12406T>C (p.Tyr4136His) c.12400T>C (p.Tyr4134His) c.12376T>C (p.Tyr4126His) c.12199T>C (p.Tyr4067His) c.12343T>C (p.Tyr4115His) c.12415T>C (p.Tyr4139His) | |
1 | g.237784094T>G | CA345413094 | RYR2 | c.*3474T>G (n.*3474T>G) c.12370T>G (p.Tyr4124Asp) c.12403T>G (p.Tyr4135Asp) c.4559T>G c.12382T>G (p.Tyr4128Asp) c.2435T>G c.12334T>G (p.Tyr4112Asp) n.3577T>G c.12436T>G (p.Tyr4146Asp) c.12433T>G (p.Tyr4145Asp) c.12412T>G (p.Tyr4138Asp) c.12406T>G (p.Tyr4136Asp) c.12400T>G (p.Tyr4134Asp) c.12376T>G (p.Tyr4126Asp) c.12199T>G (p.Tyr4067Asp) c.12343T>G (p.Tyr4115Asp) c.12415T>G (p.Tyr4139Asp) | |
1 | g.237784095A>C | CA345413095 | RYR2 | c.*3475A>C (n.*3475A>C) c.12371A>C (p.Tyr4124Ser) c.12404A>C (p.Tyr4135Ser) c.4560A>C c.12383A>C (p.Tyr4128Ser) c.2436A>C c.12335A>C (p.Tyr4112Ser) n.3578A>C c.12437A>C (p.Tyr4146Ser) c.12434A>C (p.Tyr4145Ser) c.12413A>C (p.Tyr4138Ser) c.12407A>C (p.Tyr4136Ser) c.12401A>C (p.Tyr4134Ser) c.12377A>C (p.Tyr4126Ser) c.12200A>C (p.Tyr4067Ser) c.12344A>C (p.Tyr4115Ser) c.12416A>C (p.Tyr4139Ser) | |
1 | g.237784095A>G | CA345413096 | RYR2 | c.*3475A>G (n.*3475A>G) c.12371A>G (p.Tyr4124Cys) c.12404A>G (p.Tyr4135Cys) c.4560A>G c.12383A>G (p.Tyr4128Cys) c.2436A>G c.12335A>G (p.Tyr4112Cys) n.3578A>G c.12437A>G (p.Tyr4146Cys) c.12434A>G (p.Tyr4145Cys) c.12413A>G (p.Tyr4138Cys) c.12407A>G (p.Tyr4136Cys) c.12401A>G (p.Tyr4134Cys) c.12377A>G (p.Tyr4126Cys) c.12200A>G (p.Tyr4067Cys) c.12344A>G (p.Tyr4115Cys) c.12416A>G (p.Tyr4139Cys) | |
1 | g.237784095A>T | CA345413097 | RYR2 | c.*3475A>T (n.*3475A>T) c.12371A>T (p.Tyr4124Phe) c.12404A>T (p.Tyr4135Phe) c.4560A>T c.12383A>T (p.Tyr4128Phe) c.2436A>T c.12335A>T (p.Tyr4112Phe) n.3578A>T c.12437A>T (p.Tyr4146Phe) c.12434A>T (p.Tyr4145Phe) c.12413A>T (p.Tyr4138Phe) c.12407A>T (p.Tyr4136Phe) c.12401A>T (p.Tyr4134Phe) c.12377A>T (p.Tyr4126Phe) c.12200A>T (p.Tyr4067Phe) c.12344A>T (p.Tyr4115Phe) c.12416A>T (p.Tyr4139Phe) | |
1 | g.237784096T>A | CA345413098 | RYR2 | c.*3476T>A (n.*3476T>A) c.12372T>A (p.Tyr4124Ter) c.12405T>A (p.Tyr4135Ter) c.4561T>A c.12384T>A (p.Tyr4128Ter) c.2437T>A c.12336T>A (p.Tyr4112Ter) n.3579T>A c.12438T>A (p.Tyr4146Ter) c.12435T>A (p.Tyr4145Ter) c.12414T>A (p.Tyr4138Ter) c.12408T>A (p.Tyr4136Ter) c.12402T>A (p.Tyr4134Ter) c.12378T>A (p.Tyr4126Ter) c.12201T>A (p.Tyr4067Ter) c.12345T>A (p.Tyr4115Ter) c.12417T>A (p.Tyr4139Ter) | |
1 | g.237784096T>C | CA424032103 | RYR2 | c.*3476T>C (n.*3476T>C) c.12372T>C (p.Tyr4124=) c.12405T>C (p.Tyr4135=) c.4561T>C c.12384T>C (p.Tyr4128=) c.2437T>C c.12336T>C (p.Tyr4112=) n.3579T>C c.12438T>C (p.Tyr4146=) c.12435T>C (p.Tyr4145=) c.12414T>C (p.Tyr4138=) c.12408T>C (p.Tyr4136=) c.12402T>C (p.Tyr4134=) c.12378T>C (p.Tyr4126=) c.12201T>C (p.Tyr4067=) c.12345T>C (p.Tyr4115=) c.12417T>C (p.Tyr4139=) | |
1 | g.237784096T>G | CA345413099 | RYR2 | c.*3476T>G (n.*3476T>G) c.12372T>G (p.Tyr4124Ter) c.12405T>G (p.Tyr4135Ter) c.4561T>G c.12384T>G (p.Tyr4128Ter) c.2437T>G c.12336T>G (p.Tyr4112Ter) n.3579T>G c.12438T>G (p.Tyr4146Ter) c.12435T>G (p.Tyr4145Ter) c.12414T>G (p.Tyr4138Ter) c.12408T>G (p.Tyr4136Ter) c.12402T>G (p.Tyr4134Ter) c.12378T>G (p.Tyr4126Ter) c.12201T>G (p.Tyr4067Ter) c.12345T>G (p.Tyr4115Ter) c.12417T>G (p.Tyr4139Ter) | |
1 | g.237784098dup | CA2840624659 | RYR2 | c.*3478dup (n.*3478dup) c.12374dup (p.Gln4126ProfsTer22) c.12407dup (p.Gln4137ProfsTer22) c.4563dup c.12386dup (p.Gln4130ProfsTer22) c.2439dup c.12338dup (p.Gln4114ProfsTer22) n.3581dup c.12440dup (p.Gln4148ProfsTer22) c.12437dup (p.Gln4147ProfsTer22) c.12416dup (p.Gln4140ProfsTer22) c.12410dup (p.Gln4138ProfsTer22) c.12404dup (p.Gln4136ProfsTer22) c.12380dup (p.Gln4128ProfsTer22) c.12203dup (p.Gln4069ProfsTer22) c.12347dup (p.Gln4117ProfsTer22) c.12419dup (p.Gln4141ProfsTer22) | |
1 | g.237784098del | CA2580062461 | RYR2 | c.*3478del (n.*3478del) c.12374del (p.Phe4125SerfsTer?) c.12407del (p.Phe4136SerfsTer?) c.4563del c.12386del (p.Phe4129SerfsTer?) c.2439del c.12338del (p.Phe4113SerfsTer?) n.3581del c.12440del (p.Phe4147SerfsTer?) c.12437del (p.Phe4146SerfsTer?) c.12416del (p.Phe4139SerfsTer?) c.12410del (p.Phe4137SerfsTer?) c.12404del (p.Phe4135SerfsTer?) c.12380del (p.Phe4127SerfsTer?) c.12203del (p.Phe4068SerfsTer?) c.12347del (p.Phe4116SerfsTer?) c.12419del (p.Phe4140SerfsTer?) | ClinVar |
1 | g.237784097T>A | CA345413100 | RYR2 | c.*3477T>A (n.*3477T>A) c.12373T>A (p.Phe4125Ile) c.12406T>A (p.Phe4136Ile) c.4562T>A c.12385T>A (p.Phe4129Ile) c.2438T>A c.12337T>A (p.Phe4113Ile) n.3580T>A c.12439T>A (p.Phe4147Ile) c.12436T>A (p.Phe4146Ile) c.12415T>A (p.Phe4139Ile) c.12409T>A (p.Phe4137Ile) c.12403T>A (p.Phe4135Ile) c.12379T>A (p.Phe4127Ile) c.12202T>A (p.Phe4068Ile) c.12346T>A (p.Phe4116Ile) c.12418T>A (p.Phe4140Ile) | |
1 | g.237784097T>C | CA345413102 | RYR2 | c.*3477T>C (n.*3477T>C) c.12373T>C (p.Phe4125Leu) c.12406T>C (p.Phe4136Leu) c.4562T>C c.12385T>C (p.Phe4129Leu) c.2438T>C c.12337T>C (p.Phe4113Leu) n.3580T>C c.12439T>C (p.Phe4147Leu) c.12436T>C (p.Phe4146Leu) c.12415T>C (p.Phe4139Leu) c.12409T>C (p.Phe4137Leu) c.12403T>C (p.Phe4135Leu) c.12379T>C (p.Phe4127Leu) c.12202T>C (p.Phe4068Leu) c.12346T>C (p.Phe4116Leu) c.12418T>C (p.Phe4140Leu) | ClinVar dbSNP |
1 | g.237784097T>G | CA345413101 | RYR2 | c.*3477T>G (n.*3477T>G) c.12373T>G (p.Phe4125Val) c.12406T>G (p.Phe4136Val) c.4562T>G c.12385T>G (p.Phe4129Val) c.2438T>G c.12337T>G (p.Phe4113Val) n.3580T>G c.12439T>G (p.Phe4147Val) c.12436T>G (p.Phe4146Val) c.12415T>G (p.Phe4139Val) c.12409T>G (p.Phe4137Val) c.12403T>G (p.Phe4135Val) c.12379T>G (p.Phe4127Val) c.12202T>G (p.Phe4068Val) c.12346T>G (p.Phe4116Val) c.12418T>G (p.Phe4140Val) | ClinVar dbSNP |
1 | g.237784097T= | CA2487482383 | RYR2 | c.*3477T= (n.*3477T=) c.12373T= (p.Phe4125=) c.12406T= (p.Phe4136=) c.4562T= c.12385T= (p.Phe4129=) c.2438T= c.12337T= (p.Phe4113=) n.3580T= c.12439T= (p.Phe4147=) c.12436T= (p.Phe4146=) c.12415T= (p.Phe4139=) c.12409T= (p.Phe4137=) c.12403T= (p.Phe4135=) c.12379T= (p.Phe4127=) c.12202T= (p.Phe4068=) c.12346T= (p.Phe4116=) c.12418T= (p.Phe4140=) | |
1 | g.237784098T>A | CA345413103 | RYR2 | c.*3478T>A (n.*3478T>A) c.12374T>A (p.Phe4125Tyr) c.12407T>A (p.Phe4136Tyr) c.4563T>A c.12386T>A (p.Phe4129Tyr) c.2439T>A c.12338T>A (p.Phe4113Tyr) n.3581T>A c.12440T>A (p.Phe4147Tyr) c.12437T>A (p.Phe4146Tyr) c.12416T>A (p.Phe4139Tyr) c.12410T>A (p.Phe4137Tyr) c.12404T>A (p.Phe4135Tyr) c.12380T>A (p.Phe4127Tyr) c.12203T>A (p.Phe4068Tyr) c.12347T>A (p.Phe4116Tyr) c.12419T>A (p.Phe4140Tyr) | |
1 | g.237784098T>C | CA345413104 | RYR2 | c.*3478T>C (n.*3478T>C) c.12374T>C (p.Phe4125Ser) c.12407T>C (p.Phe4136Ser) c.4563T>C c.12386T>C (p.Phe4129Ser) c.2439T>C c.12338T>C (p.Phe4113Ser) n.3581T>C c.12440T>C (p.Phe4147Ser) c.12437T>C (p.Phe4146Ser) c.12416T>C (p.Phe4139Ser) c.12410T>C (p.Phe4137Ser) c.12404T>C (p.Phe4135Ser) c.12380T>C (p.Phe4127Ser) c.12203T>C (p.Phe4068Ser) c.12347T>C (p.Phe4116Ser) c.12419T>C (p.Phe4140Ser) | |
1 | g.237784098T>G | CA345413105 | RYR2 | c.*3478T>G (n.*3478T>G) c.12374T>G (p.Phe4125Cys) c.12407T>G (p.Phe4136Cys) c.4563T>G c.12386T>G (p.Phe4129Cys) c.2439T>G c.12338T>G (p.Phe4113Cys) n.3581T>G c.12440T>G (p.Phe4147Cys) c.12437T>G (p.Phe4146Cys) c.12416T>G (p.Phe4139Cys) c.12410T>G (p.Phe4137Cys) c.12404T>G (p.Phe4135Cys) c.12380T>G (p.Phe4127Cys) c.12203T>G (p.Phe4068Cys) c.12347T>G (p.Phe4116Cys) c.12419T>G (p.Phe4140Cys) | |
1 | g.237784099C>A | CA345413106 | RYR2 | c.*3479C>A (n.*3479C>A) c.12375C>A (p.Phe4125Leu) c.12408C>A (p.Phe4136Leu) c.4564C>A c.12387C>A (p.Phe4129Leu) c.2440C>A c.12339C>A (p.Phe4113Leu) n.3582C>A c.12441C>A (p.Phe4147Leu) c.12438C>A (p.Phe4146Leu) c.12417C>A (p.Phe4139Leu) c.12411C>A (p.Phe4137Leu) c.12405C>A (p.Phe4135Leu) c.12381C>A (p.Phe4127Leu) c.12204C>A (p.Phe4068Leu) c.12348C>A (p.Phe4116Leu) c.12420C>A (p.Phe4140Leu) | |
1 | g.237784099C= | CA2487482384 | RYR2 | c.*3479C= (n.*3479C=) c.12375C= (p.Phe4125=) c.12408C= (p.Phe4136=) c.4564C= c.12387C= (p.Phe4129=) c.2440C= c.12339C= (p.Phe4113=) n.3582C= c.12441C= (p.Phe4147=) c.12438C= (p.Phe4146=) c.12417C= (p.Phe4139=) c.12411C= (p.Phe4137=) c.12405C= (p.Phe4135=) c.12381C= (p.Phe4127=) c.12204C= (p.Phe4068=) c.12348C= (p.Phe4116=) c.12420C= (p.Phe4140=) | |
1 | g.237784099C>G | CA345413107 | RYR2 | c.*3479C>G (n.*3479C>G) c.12375C>G (p.Phe4125Leu) c.12408C>G (p.Phe4136Leu) c.4564C>G c.12387C>G (p.Phe4129Leu) c.2440C>G c.12339C>G (p.Phe4113Leu) n.3582C>G c.12441C>G (p.Phe4147Leu) c.12438C>G (p.Phe4146Leu) c.12417C>G (p.Phe4139Leu) c.12411C>G (p.Phe4137Leu) c.12405C>G (p.Phe4135Leu) c.12381C>G (p.Phe4127Leu) c.12204C>G (p.Phe4068Leu) c.12348C>G (p.Phe4116Leu) c.12420C>G (p.Phe4140Leu) | gnomAD v4 |
1 | g.237784099C>T | CA424032107 | RYR2 | c.*3479C>T (n.*3479C>T) c.12375C>T (p.Phe4125=) c.12408C>T (p.Phe4136=) c.4564C>T c.12387C>T (p.Phe4129=) c.2440C>T c.12339C>T (p.Phe4113=) n.3582C>T c.12441C>T (p.Phe4147=) c.12438C>T (p.Phe4146=) c.12417C>T (p.Phe4139=) c.12411C>T (p.Phe4137=) c.12405C>T (p.Phe4135=) c.12381C>T (p.Phe4127=) c.12204C>T (p.Phe4068=) c.12348C>T (p.Phe4116=) c.12420C>T (p.Phe4140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784100C>A | CA345413108 | RYR2 | c.*3480C>A (n.*3480C>A) c.12376C>A (p.Gln4126Lys) c.12409C>A (p.Gln4137Lys) c.4565C>A c.12388C>A (p.Gln4130Lys) c.2441C>A c.12340C>A (p.Gln4114Lys) n.3583C>A c.12442C>A (p.Gln4148Lys) c.12439C>A (p.Gln4147Lys) c.12418C>A (p.Gln4140Lys) c.12412C>A (p.Gln4138Lys) c.12406C>A (p.Gln4136Lys) c.12382C>A (p.Gln4128Lys) c.12205C>A (p.Gln4069Lys) c.12349C>A (p.Gln4117Lys) c.12421C>A (p.Gln4141Lys) | |
1 | g.237784100C>G | CA345413109 | RYR2 | c.*3480C>G (n.*3480C>G) c.12376C>G (p.Gln4126Glu) c.12409C>G (p.Gln4137Glu) c.4565C>G c.12388C>G (p.Gln4130Glu) c.2441C>G c.12340C>G (p.Gln4114Glu) n.3583C>G c.12442C>G (p.Gln4148Glu) c.12439C>G (p.Gln4147Glu) c.12418C>G (p.Gln4140Glu) c.12412C>G (p.Gln4138Glu) c.12406C>G (p.Gln4136Glu) c.12382C>G (p.Gln4128Glu) c.12205C>G (p.Gln4069Glu) c.12349C>G (p.Gln4117Glu) c.12421C>G (p.Gln4141Glu) | |
1 | g.237784100C>T | CA345413110 | RYR2 | c.*3480C>T (n.*3480C>T) c.12376C>T (p.Gln4126Ter) c.12409C>T (p.Gln4137Ter) c.4565C>T c.12388C>T (p.Gln4130Ter) c.2441C>T c.12340C>T (p.Gln4114Ter) n.3583C>T c.12442C>T (p.Gln4148Ter) c.12439C>T (p.Gln4147Ter) c.12418C>T (p.Gln4140Ter) c.12412C>T (p.Gln4138Ter) c.12406C>T (p.Gln4136Ter) c.12382C>T (p.Gln4128Ter) c.12205C>T (p.Gln4069Ter) c.12349C>T (p.Gln4117Ter) c.12421C>T (p.Gln4141Ter) | |
1 | g.237784101A>C | CA345413111 | RYR2 | c.*3481A>C (n.*3481A>C) c.12377A>C (p.Gln4126Pro) c.12410A>C (p.Gln4137Pro) c.4566A>C c.12389A>C (p.Gln4130Pro) c.2442A>C c.12341A>C (p.Gln4114Pro) n.3584A>C c.12443A>C (p.Gln4148Pro) c.12440A>C (p.Gln4147Pro) c.12419A>C (p.Gln4140Pro) c.12413A>C (p.Gln4138Pro) c.12407A>C (p.Gln4136Pro) c.12383A>C (p.Gln4128Pro) c.12206A>C (p.Gln4069Pro) c.12350A>C (p.Gln4117Pro) c.12422A>C (p.Gln4141Pro) | |
1 | g.237784101A>G | CA345413112 | RYR2 | c.*3481A>G (n.*3481A>G) c.12377A>G (p.Gln4126Arg) c.12410A>G (p.Gln4137Arg) c.4566A>G c.12389A>G (p.Gln4130Arg) c.2442A>G c.12341A>G (p.Gln4114Arg) n.3584A>G c.12443A>G (p.Gln4148Arg) c.12440A>G (p.Gln4147Arg) c.12419A>G (p.Gln4140Arg) c.12413A>G (p.Gln4138Arg) c.12407A>G (p.Gln4136Arg) c.12383A>G (p.Gln4128Arg) c.12206A>G (p.Gln4069Arg) c.12350A>G (p.Gln4117Arg) c.12422A>G (p.Gln4141Arg) | |
1 | g.237784101A>T | CA345413113 | RYR2 | c.*3481A>T (n.*3481A>T) c.12377A>T (p.Gln4126Leu) c.12410A>T (p.Gln4137Leu) c.4566A>T c.12389A>T (p.Gln4130Leu) c.2442A>T c.12341A>T (p.Gln4114Leu) n.3584A>T c.12443A>T (p.Gln4148Leu) c.12440A>T (p.Gln4147Leu) c.12419A>T (p.Gln4140Leu) c.12413A>T (p.Gln4138Leu) c.12407A>T (p.Gln4136Leu) c.12383A>T (p.Gln4128Leu) c.12206A>T (p.Gln4069Leu) c.12350A>T (p.Gln4117Leu) c.12422A>T (p.Gln4141Leu) | |
1 | g.237784102G>A | CA424032109 | RYR2 | c.*3482G>A (n.*3482G>A) c.12378G>A (p.Gln4126=) c.12411G>A (p.Gln4137=) c.4567G>A c.12390G>A (p.Gln4130=) c.2443G>A c.12342G>A (p.Gln4114=) n.3585G>A c.12444G>A (p.Gln4148=) c.12441G>A (p.Gln4147=) c.12420G>A (p.Gln4140=) c.12414G>A (p.Gln4138=) c.12408G>A (p.Gln4136=) c.12384G>A (p.Gln4128=) c.12207G>A (p.Gln4069=) c.12351G>A (p.Gln4117=) c.12423G>A (p.Gln4141=) | |
1 | g.237784102G>C | CA345413115 | RYR2 | c.*3482G>C (n.*3482G>C) c.12378G>C (p.Gln4126His) c.12411G>C (p.Gln4137His) c.4567G>C c.12390G>C (p.Gln4130His) c.2443G>C c.12342G>C (p.Gln4114His) n.3585G>C c.12444G>C (p.Gln4148His) c.12441G>C (p.Gln4147His) c.12420G>C (p.Gln4140His) c.12414G>C (p.Gln4138His) c.12408G>C (p.Gln4136His) c.12384G>C (p.Gln4128His) c.12207G>C (p.Gln4069His) c.12351G>C (p.Gln4117His) c.12423G>C (p.Gln4141His) | |
1 | g.237784102G>T | CA345413114 | RYR2 | c.*3482G>T (n.*3482G>T) c.12378G>T (p.Gln4126His) c.12411G>T (p.Gln4137His) c.4567G>T c.12390G>T (p.Gln4130His) c.2443G>T c.12342G>T (p.Gln4114His) n.3585G>T c.12444G>T (p.Gln4148His) c.12441G>T (p.Gln4147His) c.12420G>T (p.Gln4140His) c.12414G>T (p.Gln4138His) c.12408G>T (p.Gln4136His) c.12384G>T (p.Gln4128His) c.12207G>T (p.Gln4069His) c.12351G>T (p.Gln4117His) c.12423G>T (p.Gln4141His) | |
1 | g.237784102dup | CA2651213122 | RYR2 | c.*3482dup (n.*3482dup) c.12378dup (p.Pro4127AlafsTer21) c.12411dup (p.Pro4138AlafsTer21) c.4567dup c.12390dup (p.Pro4131AlafsTer21) c.2443dup c.12342dup (p.Pro4115AlafsTer21) n.3585dup c.12444dup (p.Pro4149AlafsTer21) c.12441dup (p.Pro4148AlafsTer21) c.12420dup (p.Pro4141AlafsTer21) c.12414dup (p.Pro4139AlafsTer21) c.12408dup (p.Pro4137AlafsTer21) c.12384dup (p.Pro4129AlafsTer21) c.12207dup (p.Pro4070AlafsTer21) c.12351dup (p.Pro4118AlafsTer21) c.12423dup (p.Pro4142AlafsTer21) | gnomAD v4 |
1 | g.237784103C>A | CA345413116 | RYR2 | c.*3483C>A (n.*3483C>A) c.12379C>A (p.Pro4127Thr) c.12412C>A (p.Pro4138Thr) c.4568C>A c.12391C>A (p.Pro4131Thr) c.2444C>A c.12343C>A (p.Pro4115Thr) n.3586C>A c.12445C>A (p.Pro4149Thr) c.12442C>A (p.Pro4148Thr) c.12421C>A (p.Pro4141Thr) c.12415C>A (p.Pro4139Thr) c.12409C>A (p.Pro4137Thr) c.12385C>A (p.Pro4129Thr) c.12208C>A (p.Pro4070Thr) c.12352C>A (p.Pro4118Thr) c.12424C>A (p.Pro4142Thr) | |
1 | g.237784103C>G | CA345413117 | RYR2 | c.*3483C>G (n.*3483C>G) c.12379C>G (p.Pro4127Ala) c.12412C>G (p.Pro4138Ala) c.4568C>G c.12391C>G (p.Pro4131Ala) c.2444C>G c.12343C>G (p.Pro4115Ala) n.3586C>G c.12445C>G (p.Pro4149Ala) c.12442C>G (p.Pro4148Ala) c.12421C>G (p.Pro4141Ala) c.12415C>G (p.Pro4139Ala) c.12409C>G (p.Pro4137Ala) c.12385C>G (p.Pro4129Ala) c.12208C>G (p.Pro4070Ala) c.12352C>G (p.Pro4118Ala) c.12424C>G (p.Pro4142Ala) | |
1 | g.237784103C>T | CA345413118 | RYR2 | c.*3483C>T (n.*3483C>T) c.12379C>T (p.Pro4127Ser) c.12412C>T (p.Pro4138Ser) c.4568C>T c.12391C>T (p.Pro4131Ser) c.2444C>T c.12343C>T (p.Pro4115Ser) n.3586C>T c.12445C>T (p.Pro4149Ser) c.12442C>T (p.Pro4148Ser) c.12421C>T (p.Pro4141Ser) c.12415C>T (p.Pro4139Ser) c.12409C>T (p.Pro4137Ser) c.12385C>T (p.Pro4129Ser) c.12208C>T (p.Pro4070Ser) c.12352C>T (p.Pro4118Ser) c.12424C>T (p.Pro4142Ser) | |
1 | g.237784104C>A | CA345413119 | RYR2 | c.*3484C>A (n.*3484C>A) c.12380C>A (p.Pro4127His) c.12413C>A (p.Pro4138His) c.4569C>A c.12392C>A (p.Pro4131His) c.2445C>A c.12344C>A (p.Pro4115His) n.3587C>A c.12446C>A (p.Pro4149His) c.12443C>A (p.Pro4148His) c.12422C>A (p.Pro4141His) c.12416C>A (p.Pro4139His) c.12410C>A (p.Pro4137His) c.12386C>A (p.Pro4129His) c.12209C>A (p.Pro4070His) c.12353C>A (p.Pro4118His) c.12425C>A (p.Pro4142His) | dbSNP |
1 | g.237784104C= | CA2487482385 | RYR2 | c.*3484C= (n.*3484C=) c.12380C= (p.Pro4127=) c.12413C= (p.Pro4138=) c.4569C= c.12392C= (p.Pro4131=) c.2445C= c.12344C= (p.Pro4115=) n.3587C= c.12446C= (p.Pro4149=) c.12443C= (p.Pro4148=) c.12422C= (p.Pro4141=) c.12416C= (p.Pro4139=) c.12410C= (p.Pro4137=) c.12386C= (p.Pro4129=) c.12209C= (p.Pro4070=) c.12353C= (p.Pro4118=) c.12425C= (p.Pro4142=) | |
1 | g.237784104C>G | CA345413120 | RYR2 | c.*3484C>G (n.*3484C>G) c.12380C>G (p.Pro4127Arg) c.12413C>G (p.Pro4138Arg) c.4569C>G c.12392C>G (p.Pro4131Arg) c.2445C>G c.12344C>G (p.Pro4115Arg) n.3587C>G c.12446C>G (p.Pro4149Arg) c.12443C>G (p.Pro4148Arg) c.12422C>G (p.Pro4141Arg) c.12416C>G (p.Pro4139Arg) c.12410C>G (p.Pro4137Arg) c.12386C>G (p.Pro4129Arg) c.12209C>G (p.Pro4070Arg) c.12353C>G (p.Pro4118Arg) c.12425C>G (p.Pro4142Arg) | |
1 | g.237784104C>T | CA345413121 | RYR2 | c.*3484C>T (n.*3484C>T) c.12380C>T (p.Pro4127Leu) c.12413C>T (p.Pro4138Leu) c.4569C>T c.12392C>T (p.Pro4131Leu) c.2445C>T c.12344C>T (p.Pro4115Leu) n.3587C>T c.12446C>T (p.Pro4149Leu) c.12443C>T (p.Pro4148Leu) c.12422C>T (p.Pro4141Leu) c.12416C>T (p.Pro4139Leu) c.12410C>T (p.Pro4137Leu) c.12386C>T (p.Pro4129Leu) c.12209C>T (p.Pro4070Leu) c.12353C>T (p.Pro4118Leu) c.12425C>T (p.Pro4142Leu) | ClinVar dbSNP |
1 | g.237784105C>A | CA424032115 | RYR2 | c.*3485C>A (n.*3485C>A) c.12381C>A (p.Pro4127=) c.12414C>A (p.Pro4138=) c.4570C>A c.12393C>A (p.Pro4131=) c.2446C>A c.12345C>A (p.Pro4115=) n.3588C>A c.12447C>A (p.Pro4149=) c.12444C>A (p.Pro4148=) c.12423C>A (p.Pro4141=) c.12417C>A (p.Pro4139=) c.12411C>A (p.Pro4137=) c.12387C>A (p.Pro4129=) c.12210C>A (p.Pro4070=) c.12354C>A (p.Pro4118=) c.12426C>A (p.Pro4142=) | |
1 | g.237784105C= | CA2487482386 | RYR2 | c.*3485C= (n.*3485C=) c.12381C= (p.Pro4127=) c.12414C= (p.Pro4138=) c.4570C= c.12393C= (p.Pro4131=) c.2446C= c.12345C= (p.Pro4115=) n.3588C= c.12447C= (p.Pro4149=) c.12444C= (p.Pro4148=) c.12423C= (p.Pro4141=) c.12417C= (p.Pro4139=) c.12411C= (p.Pro4137=) c.12387C= (p.Pro4129=) c.12210C= (p.Pro4070=) c.12354C= (p.Pro4118=) c.12426C= (p.Pro4142=) | |
1 | g.237784105C>G | CA424032116 | RYR2 | c.*3485C>G (n.*3485C>G) c.12381C>G (p.Pro4127=) c.12414C>G (p.Pro4138=) c.4570C>G c.12393C>G (p.Pro4131=) c.2446C>G c.12345C>G (p.Pro4115=) n.3588C>G c.12447C>G (p.Pro4149=) c.12444C>G (p.Pro4148=) c.12423C>G (p.Pro4141=) c.12417C>G (p.Pro4139=) c.12411C>G (p.Pro4137=) c.12387C>G (p.Pro4129=) c.12210C>G (p.Pro4070=) c.12354C>G (p.Pro4118=) c.12426C>G (p.Pro4142=) | dbSNP |
1 | g.237784105C>T | CA424032117 | RYR2 | c.*3485C>T (n.*3485C>T) c.12381C>T (p.Pro4127=) c.12414C>T (p.Pro4138=) c.4570C>T c.12393C>T (p.Pro4131=) c.2446C>T c.12345C>T (p.Pro4115=) n.3588C>T c.12447C>T (p.Pro4149=) c.12444C>T (p.Pro4148=) c.12423C>T (p.Pro4141=) c.12417C>T (p.Pro4139=) c.12411C>T (p.Pro4137=) c.12387C>T (p.Pro4129=) c.12210C>T (p.Pro4070=) c.12354C>T (p.Pro4118=) c.12426C>T (p.Pro4142=) | |
1 | g.237784106T>A | CA345413124 | RYR2 | c.*3486T>A (n.*3486T>A) c.12382T>A (p.Phe4128Ile) c.12415T>A (p.Phe4139Ile) c.4571T>A c.12394T>A (p.Phe4132Ile) c.2447T>A c.12346T>A (p.Phe4116Ile) n.3589T>A c.12448T>A (p.Phe4150Ile) c.12445T>A (p.Phe4149Ile) c.12424T>A (p.Phe4142Ile) c.12418T>A (p.Phe4140Ile) c.12412T>A (p.Phe4138Ile) c.12388T>A (p.Phe4130Ile) c.12211T>A (p.Phe4071Ile) c.12355T>A (p.Phe4119Ile) c.12427T>A (p.Phe4143Ile) | |
1 | g.237784106T>C | CA345413123 | RYR2 | c.*3486T>C (n.*3486T>C) c.12382T>C (p.Phe4128Leu) c.12415T>C (p.Phe4139Leu) c.4571T>C c.12394T>C (p.Phe4132Leu) c.2447T>C c.12346T>C (p.Phe4116Leu) n.3589T>C c.12448T>C (p.Phe4150Leu) c.12445T>C (p.Phe4149Leu) c.12424T>C (p.Phe4142Leu) c.12418T>C (p.Phe4140Leu) c.12412T>C (p.Phe4138Leu) c.12388T>C (p.Phe4130Leu) c.12211T>C (p.Phe4071Leu) c.12355T>C (p.Phe4119Leu) c.12427T>C (p.Phe4143Leu) | |
1 | g.237784106T>G | CA345413122 | RYR2 | c.*3486T>G (n.*3486T>G) c.12382T>G (p.Phe4128Val) c.12415T>G (p.Phe4139Val) c.4571T>G c.12394T>G (p.Phe4132Val) c.2447T>G c.12346T>G (p.Phe4116Val) n.3589T>G c.12448T>G (p.Phe4150Val) c.12445T>G (p.Phe4149Val) c.12424T>G (p.Phe4142Val) c.12418T>G (p.Phe4140Val) c.12412T>G (p.Phe4138Val) c.12388T>G (p.Phe4130Val) c.12211T>G (p.Phe4071Val) c.12355T>G (p.Phe4119Val) c.12427T>G (p.Phe4143Val) | |
1 | g.237784107T>A | CA345413125 | RYR2 | c.*3487T>A (n.*3487T>A) c.12383T>A (p.Phe4128Tyr) c.12416T>A (p.Phe4139Tyr) c.4572T>A c.12395T>A (p.Phe4132Tyr) c.2448T>A c.12347T>A (p.Phe4116Tyr) n.3590T>A c.12449T>A (p.Phe4150Tyr) c.12446T>A (p.Phe4149Tyr) c.12425T>A (p.Phe4142Tyr) c.12419T>A (p.Phe4140Tyr) c.12413T>A (p.Phe4138Tyr) c.12389T>A (p.Phe4130Tyr) c.12212T>A (p.Phe4071Tyr) c.12356T>A (p.Phe4119Tyr) c.12428T>A (p.Phe4143Tyr) | dbSNP gnomAD v4 |
1 | g.237784107T>C | CA345413126 | RYR2 | c.*3487T>C (n.*3487T>C) c.12383T>C (p.Phe4128Ser) c.12416T>C (p.Phe4139Ser) c.4572T>C c.12395T>C (p.Phe4132Ser) c.2448T>C c.12347T>C (p.Phe4116Ser) n.3590T>C c.12449T>C (p.Phe4150Ser) c.12446T>C (p.Phe4149Ser) c.12425T>C (p.Phe4142Ser) c.12419T>C (p.Phe4140Ser) c.12413T>C (p.Phe4138Ser) c.12389T>C (p.Phe4130Ser) c.12212T>C (p.Phe4071Ser) c.12356T>C (p.Phe4119Ser) c.12428T>C (p.Phe4143Ser) | |
1 | g.237784107T>G | CA345413127 | RYR2 | c.*3487T>G (n.*3487T>G) c.12383T>G (p.Phe4128Cys) c.12416T>G (p.Phe4139Cys) c.4572T>G c.12395T>G (p.Phe4132Cys) c.2448T>G c.12347T>G (p.Phe4116Cys) n.3590T>G c.12449T>G (p.Phe4150Cys) c.12446T>G (p.Phe4149Cys) c.12425T>G (p.Phe4142Cys) c.12419T>G (p.Phe4140Cys) c.12413T>G (p.Phe4138Cys) c.12389T>G (p.Phe4130Cys) c.12212T>G (p.Phe4071Cys) c.12356T>G (p.Phe4119Cys) c.12428T>G (p.Phe4143Cys) | |
1 | g.237784107T= | CA2487482387 | RYR2 | c.*3487T= (n.*3487T=) c.12383T= (p.Phe4128=) c.12416T= (p.Phe4139=) c.4572T= c.12395T= (p.Phe4132=) c.2448T= c.12347T= (p.Phe4116=) n.3590T= c.12449T= (p.Phe4150=) c.12446T= (p.Phe4149=) c.12425T= (p.Phe4142=) c.12419T= (p.Phe4140=) c.12413T= (p.Phe4138=) c.12389T= (p.Phe4130=) c.12212T= (p.Phe4071=) c.12356T= (p.Phe4119=) c.12428T= (p.Phe4143=) | |
1 | g.237784108T>A | CA345413128 | RYR2 | c.*3488T>A (n.*3488T>A) c.12384T>A (p.Phe4128Leu) c.12417T>A (p.Phe4139Leu) c.4573T>A c.12396T>A (p.Phe4132Leu) c.2449T>A c.12348T>A (p.Phe4116Leu) n.3591T>A c.12450T>A (p.Phe4150Leu) c.12447T>A (p.Phe4149Leu) c.12426T>A (p.Phe4142Leu) c.12420T>A (p.Phe4140Leu) c.12414T>A (p.Phe4138Leu) c.12390T>A (p.Phe4130Leu) c.12213T>A (p.Phe4071Leu) c.12357T>A (p.Phe4119Leu) c.12429T>A (p.Phe4143Leu) | gnomAD v4 |
1 | g.237784108T>C | CA424032123 | RYR2 | c.*3488T>C (n.*3488T>C) c.12384T>C (p.Phe4128=) c.12417T>C (p.Phe4139=) c.4573T>C c.12396T>C (p.Phe4132=) c.2449T>C c.12348T>C (p.Phe4116=) n.3591T>C c.12450T>C (p.Phe4150=) c.12447T>C (p.Phe4149=) c.12426T>C (p.Phe4142=) c.12420T>C (p.Phe4140=) c.12414T>C (p.Phe4138=) c.12390T>C (p.Phe4130=) c.12213T>C (p.Phe4071=) c.12357T>C (p.Phe4119=) c.12429T>C (p.Phe4143=) | |
1 | g.237784108T>G | CA345413129 | RYR2 | c.*3488T>G (n.*3488T>G) c.12384T>G (p.Phe4128Leu) c.12417T>G (p.Phe4139Leu) c.4573T>G c.12396T>G (p.Phe4132Leu) c.2449T>G c.12348T>G (p.Phe4116Leu) n.3591T>G c.12450T>G (p.Phe4150Leu) c.12447T>G (p.Phe4149Leu) c.12426T>G (p.Phe4142Leu) c.12420T>G (p.Phe4140Leu) c.12414T>G (p.Phe4138Leu) c.12390T>G (p.Phe4130Leu) c.12213T>G (p.Phe4071Leu) c.12357T>G (p.Phe4119Leu) c.12429T>G (p.Phe4143Leu) | |
1 | g.237784109C>A | CA345413130 | RYR2 | c.*3489C>A (n.*3489C>A) c.12385C>A (p.Leu4129Met) c.12418C>A (p.Leu4140Met) c.4574C>A c.12397C>A (p.Leu4133Met) c.2450C>A c.12349C>A (p.Leu4117Met) n.3592C>A c.12451C>A (p.Leu4151Met) c.12448C>A (p.Leu4150Met) c.12427C>A (p.Leu4143Met) c.12421C>A (p.Leu4141Met) c.12415C>A (p.Leu4139Met) c.12391C>A (p.Leu4131Met) c.12214C>A (p.Leu4072Met) c.12358C>A (p.Leu4120Met) c.12430C>A (p.Leu4144Met) | gnomAD v4 |
1 | g.237784109C= | CA2487482388 | RYR2 | c.*3489C= (n.*3489C=) c.12385C= (p.Leu4129=) c.12418C= (p.Leu4140=) c.4574C= c.12397C= (p.Leu4133=) c.2450C= c.12349C= (p.Leu4117=) n.3592C= c.12451C= (p.Leu4151=) c.12448C= (p.Leu4150=) c.12427C= (p.Leu4143=) c.12421C= (p.Leu4141=) c.12415C= (p.Leu4139=) c.12391C= (p.Leu4131=) c.12214C= (p.Leu4072=) c.12358C= (p.Leu4120=) c.12430C= (p.Leu4144=) | |
1 | g.237784109C>G | CA345413131 | RYR2 | c.*3489C>G (n.*3489C>G) c.12385C>G (p.Leu4129Val) c.12418C>G (p.Leu4140Val) c.4574C>G c.12397C>G (p.Leu4133Val) c.2450C>G c.12349C>G (p.Leu4117Val) n.3592C>G c.12451C>G (p.Leu4151Val) c.12448C>G (p.Leu4150Val) c.12427C>G (p.Leu4143Val) c.12421C>G (p.Leu4141Val) c.12415C>G (p.Leu4139Val) c.12391C>G (p.Leu4131Val) c.12214C>G (p.Leu4072Val) c.12358C>G (p.Leu4120Val) c.12430C>G (p.Leu4144Val) | |
1 | g.237784109C>T | CA424032125 | RYR2 | c.*3489C>T (n.*3489C>T) c.12385C>T (p.Leu4129=) c.12418C>T (p.Leu4140=) c.4574C>T c.12397C>T (p.Leu4133=) c.2450C>T c.12349C>T (p.Leu4117=) n.3592C>T c.12451C>T (p.Leu4151=) c.12448C>T (p.Leu4150=) c.12427C>T (p.Leu4143=) c.12421C>T (p.Leu4141=) c.12415C>T (p.Leu4139=) c.12391C>T (p.Leu4131=) c.12214C>T (p.Leu4072=) c.12358C>T (p.Leu4120=) c.12430C>T (p.Leu4144=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784110T>A | CA345413132 | RYR2 | c.*3490T>A (n.*3490T>A) c.12386T>A (p.Leu4129Gln) c.12419T>A (p.Leu4140Gln) c.4575T>A c.12398T>A (p.Leu4133Gln) c.2451T>A c.12350T>A (p.Leu4117Gln) n.3593T>A c.12452T>A (p.Leu4151Gln) c.12449T>A (p.Leu4150Gln) c.12428T>A (p.Leu4143Gln) c.12422T>A (p.Leu4141Gln) c.12416T>A (p.Leu4139Gln) c.12392T>A (p.Leu4131Gln) c.12215T>A (p.Leu4072Gln) c.12359T>A (p.Leu4120Gln) c.12431T>A (p.Leu4144Gln) | gnomAD v4 |
1 | g.237784110T>C | CA345413134 | RYR2 | c.*3490T>C (n.*3490T>C) c.12386T>C (p.Leu4129Pro) c.12419T>C (p.Leu4140Pro) c.4575T>C c.12398T>C (p.Leu4133Pro) c.2451T>C c.12350T>C (p.Leu4117Pro) n.3593T>C c.12452T>C (p.Leu4151Pro) c.12449T>C (p.Leu4150Pro) c.12428T>C (p.Leu4143Pro) c.12422T>C (p.Leu4141Pro) c.12416T>C (p.Leu4139Pro) c.12392T>C (p.Leu4131Pro) c.12215T>C (p.Leu4072Pro) c.12359T>C (p.Leu4120Pro) c.12431T>C (p.Leu4144Pro) | |
1 | g.237784110T>G | CA345413133 | RYR2 | c.*3490T>G (n.*3490T>G) c.12386T>G (p.Leu4129Arg) c.12419T>G (p.Leu4140Arg) c.4575T>G c.12398T>G (p.Leu4133Arg) c.2451T>G c.12350T>G (p.Leu4117Arg) n.3593T>G c.12452T>G (p.Leu4151Arg) c.12449T>G (p.Leu4150Arg) c.12428T>G (p.Leu4143Arg) c.12422T>G (p.Leu4141Arg) c.12416T>G (p.Leu4139Arg) c.12392T>G (p.Leu4131Arg) c.12215T>G (p.Leu4072Arg) c.12359T>G (p.Leu4120Arg) c.12431T>G (p.Leu4144Arg) | |
1 | g.237784111G>A | CA424032129 | RYR2 | c.*3491G>A (n.*3491G>A) c.12387G>A (p.Leu4129=) c.12420G>A (p.Leu4140=) c.4576G>A c.12399G>A (p.Leu4133=) c.2452G>A c.12351G>A (p.Leu4117=) n.3594G>A c.12453G>A (p.Leu4151=) c.12450G>A (p.Leu4150=) c.12429G>A (p.Leu4143=) c.12423G>A (p.Leu4141=) c.12417G>A (p.Leu4139=) c.12393G>A (p.Leu4131=) c.12216G>A (p.Leu4072=) c.12360G>A (p.Leu4120=) c.12432G>A (p.Leu4144=) | |
1 | g.237784111G>C | CA424032131 | RYR2 | c.*3491G>C (n.*3491G>C) c.12387G>C (p.Leu4129=) c.12420G>C (p.Leu4140=) c.4576G>C c.12399G>C (p.Leu4133=) c.2452G>C c.12351G>C (p.Leu4117=) n.3594G>C c.12453G>C (p.Leu4151=) c.12450G>C (p.Leu4150=) c.12429G>C (p.Leu4143=) c.12423G>C (p.Leu4141=) c.12417G>C (p.Leu4139=) c.12393G>C (p.Leu4131=) c.12216G>C (p.Leu4072=) c.12360G>C (p.Leu4120=) c.12432G>C (p.Leu4144=) | |
1 | g.237784111G>T | CA424032132 | RYR2 | c.*3491G>T (n.*3491G>T) c.12387G>T (p.Leu4129=) c.12420G>T (p.Leu4140=) c.4576G>T c.12399G>T (p.Leu4133=) c.2452G>T c.12351G>T (p.Leu4117=) n.3594G>T c.12453G>T (p.Leu4151=) c.12450G>T (p.Leu4150=) c.12429G>T (p.Leu4143=) c.12423G>T (p.Leu4141=) c.12417G>T (p.Leu4139=) c.12393G>T (p.Leu4131=) c.12216G>T (p.Leu4072=) c.12360G>T (p.Leu4120=) c.12432G>T (p.Leu4144=) | COSMIC |
1 | g.237784112G>A | CA345413135 | RYR2 | c.*3492G>A (n.*3492G>A) c.12388G>A (p.Gly4130Ser) c.12421G>A (p.Gly4141Ser) c.4577G>A c.12400G>A (p.Gly4134Ser) c.2453G>A c.12352G>A (p.Gly4118Ser) n.3595G>A c.12454G>A (p.Gly4152Ser) c.12451G>A (p.Gly4151Ser) c.12430G>A (p.Gly4144Ser) c.12424G>A (p.Gly4142Ser) c.12418G>A (p.Gly4140Ser) c.12394G>A (p.Gly4132Ser) c.12217G>A (p.Gly4073Ser) c.12361G>A (p.Gly4121Ser) c.12433G>A (p.Gly4145Ser) | |
1 | g.237784112G>C | CA345413136 | RYR2 | c.*3492G>C (n.*3492G>C) c.12388G>C (p.Gly4130Arg) c.12421G>C (p.Gly4141Arg) c.4577G>C c.12400G>C (p.Gly4134Arg) c.2453G>C c.12352G>C (p.Gly4118Arg) n.3595G>C c.12454G>C (p.Gly4152Arg) c.12451G>C (p.Gly4151Arg) c.12430G>C (p.Gly4144Arg) c.12424G>C (p.Gly4142Arg) c.12418G>C (p.Gly4140Arg) c.12394G>C (p.Gly4132Arg) c.12217G>C (p.Gly4073Arg) c.12361G>C (p.Gly4121Arg) c.12433G>C (p.Gly4145Arg) | |
1 | g.237784112G>T | CA345413137 | RYR2 | c.*3492G>T (n.*3492G>T) c.12388G>T (p.Gly4130Cys) c.12421G>T (p.Gly4141Cys) c.4577G>T c.12400G>T (p.Gly4134Cys) c.2453G>T c.12352G>T (p.Gly4118Cys) n.3595G>T c.12454G>T (p.Gly4152Cys) c.12451G>T (p.Gly4151Cys) c.12430G>T (p.Gly4144Cys) c.12424G>T (p.Gly4142Cys) c.12418G>T (p.Gly4140Cys) c.12394G>T (p.Gly4132Cys) c.12217G>T (p.Gly4073Cys) c.12361G>T (p.Gly4121Cys) c.12433G>T (p.Gly4145Cys) | COSMIC COSMIC |
1 | g.237784113G>A | CA345413138 | RYR2 | c.*3493G>A (n.*3493G>A) c.12389G>A (p.Gly4130Asp) c.12422G>A (p.Gly4141Asp) c.4578G>A c.12401G>A (p.Gly4134Asp) c.2454G>A c.12353G>A (p.Gly4118Asp) n.3596G>A c.12455G>A (p.Gly4152Asp) c.12452G>A (p.Gly4151Asp) c.12431G>A (p.Gly4144Asp) c.12425G>A (p.Gly4142Asp) c.12419G>A (p.Gly4140Asp) c.12395G>A (p.Gly4132Asp) c.12218G>A (p.Gly4073Asp) c.12362G>A (p.Gly4121Asp) c.12434G>A (p.Gly4145Asp) | dbSNP |
1 | g.237784113G>C | CA345413139 | RYR2 | c.*3493G>C (n.*3493G>C) c.12389G>C (p.Gly4130Ala) c.12422G>C (p.Gly4141Ala) c.4578G>C c.12401G>C (p.Gly4134Ala) c.2454G>C c.12353G>C (p.Gly4118Ala) n.3596G>C c.12455G>C (p.Gly4152Ala) c.12452G>C (p.Gly4151Ala) c.12431G>C (p.Gly4144Ala) c.12425G>C (p.Gly4142Ala) c.12419G>C (p.Gly4140Ala) c.12395G>C (p.Gly4132Ala) c.12218G>C (p.Gly4073Ala) c.12362G>C (p.Gly4121Ala) c.12434G>C (p.Gly4145Ala) | ClinVar dbSNP |
1 | g.237784113G= | CA2487482389 | RYR2 | c.*3493G= (n.*3493G=) c.12389G= (p.Gly4130=) c.12422G= (p.Gly4141=) c.4578G= c.12401G= (p.Gly4134=) c.2454G= c.12353G= (p.Gly4118=) n.3596G= c.12455G= (p.Gly4152=) c.12452G= (p.Gly4151=) c.12431G= (p.Gly4144=) c.12425G= (p.Gly4142=) c.12419G= (p.Gly4140=) c.12395G= (p.Gly4132=) c.12218G= (p.Gly4073=) c.12362G= (p.Gly4121=) c.12434G= (p.Gly4145=) | |
1 | g.237784113G>T | CA345413140 | RYR2 | c.*3493G>T (n.*3493G>T) c.12389G>T (p.Gly4130Val) c.12422G>T (p.Gly4141Val) c.4578G>T c.12401G>T (p.Gly4134Val) c.2454G>T c.12353G>T (p.Gly4118Val) n.3596G>T c.12455G>T (p.Gly4152Val) c.12452G>T (p.Gly4151Val) c.12431G>T (p.Gly4144Val) c.12425G>T (p.Gly4142Val) c.12419G>T (p.Gly4140Val) c.12395G>T (p.Gly4132Val) c.12218G>T (p.Gly4073Val) c.12362G>T (p.Gly4121Val) c.12434G>T (p.Gly4145Val) | ClinVar dbSNP |
1 | g.237784114C>A | CA424032137 | RYR2 | c.*3494C>A (n.*3494C>A) c.12390C>A (p.Gly4130=) c.12423C>A (p.Gly4141=) c.4579C>A c.12402C>A (p.Gly4134=) c.2455C>A c.12354C>A (p.Gly4118=) n.3597C>A c.12456C>A (p.Gly4152=) c.12453C>A (p.Gly4151=) c.12432C>A (p.Gly4144=) c.12426C>A (p.Gly4142=) c.12420C>A (p.Gly4140=) c.12396C>A (p.Gly4132=) c.12219C>A (p.Gly4073=) c.12363C>A (p.Gly4121=) c.12435C>A (p.Gly4145=) | ClinVar dbSNP |
1 | g.237784114C>G | CA424032139 | RYR2 | c.*3494C>G (n.*3494C>G) c.12390C>G (p.Gly4130=) c.12423C>G (p.Gly4141=) c.4579C>G c.12402C>G (p.Gly4134=) c.2455C>G c.12354C>G (p.Gly4118=) n.3597C>G c.12456C>G (p.Gly4152=) c.12453C>G (p.Gly4151=) c.12432C>G (p.Gly4144=) c.12426C>G (p.Gly4142=) c.12420C>G (p.Gly4140=) c.12396C>G (p.Gly4132=) c.12219C>G (p.Gly4073=) c.12363C>G (p.Gly4121=) c.12435C>G (p.Gly4145=) | |
1 | g.237784114C>T | CA424032142 | RYR2 | c.*3494C>T (n.*3494C>T) c.12390C>T (p.Gly4130=) c.12423C>T (p.Gly4141=) c.4579C>T c.12402C>T (p.Gly4134=) c.2455C>T c.12354C>T (p.Gly4118=) n.3597C>T c.12456C>T (p.Gly4152=) c.12453C>T (p.Gly4151=) c.12432C>T (p.Gly4144=) c.12426C>T (p.Gly4142=) c.12420C>T (p.Gly4140=) c.12396C>T (p.Gly4132=) c.12219C>T (p.Gly4073=) c.12363C>T (p.Gly4121=) c.12435C>T (p.Gly4145=) | |
1 | g.237784115C>A | CA345413141 | RYR2 | c.*3495C>A (n.*3495C>A) c.12391C>A (p.Arg4131Ser) c.12424C>A (p.Arg4142Ser) c.4580C>A c.12403C>A (p.Arg4135Ser) c.2456C>A c.12355C>A (p.Arg4119Ser) n.3598C>A c.12457C>A (p.Arg4153Ser) c.12454C>A (p.Arg4152Ser) c.12433C>A (p.Arg4145Ser) c.12427C>A (p.Arg4143Ser) c.12421C>A (p.Arg4141Ser) c.12397C>A (p.Arg4133Ser) c.12220C>A (p.Arg4074Ser) c.12364C>A (p.Arg4122Ser) c.12436C>A (p.Arg4146Ser) | |
1 | g.237784115C= | CA2487482390 | RYR2 | c.*3495C= (n.*3495C=) c.12391C= (p.Arg4131=) c.12424C= (p.Arg4142=) c.4580C= c.12403C= (p.Arg4135=) c.2456C= c.12355C= (p.Arg4119=) n.3598C= c.12457C= (p.Arg4153=) c.12454C= (p.Arg4152=) c.12433C= (p.Arg4145=) c.12427C= (p.Arg4143=) c.12421C= (p.Arg4141=) c.12397C= (p.Arg4133=) c.12220C= (p.Arg4074=) c.12364C= (p.Arg4122=) c.12436C= (p.Arg4146=) | |
1 | g.237784115C>G | CA345413142 | RYR2 | c.*3495C>G (n.*3495C>G) c.12391C>G (p.Arg4131Gly) c.12424C>G (p.Arg4142Gly) c.4580C>G c.12403C>G (p.Arg4135Gly) c.2456C>G c.12355C>G (p.Arg4119Gly) n.3598C>G c.12457C>G (p.Arg4153Gly) c.12454C>G (p.Arg4152Gly) c.12433C>G (p.Arg4145Gly) c.12427C>G (p.Arg4143Gly) c.12421C>G (p.Arg4141Gly) c.12397C>G (p.Arg4133Gly) c.12220C>G (p.Arg4074Gly) c.12364C>G (p.Arg4122Gly) c.12436C>G (p.Arg4146Gly) | |
1 | g.237784115C>T | CA085178 | RYR2 | c.*3495C>T (n.*3495C>T) c.12391C>T (p.Arg4131Cys) c.12424C>T (p.Arg4142Cys) c.4580C>T c.12403C>T (p.Arg4135Cys) c.2456C>T c.12355C>T (p.Arg4119Cys) n.3598C>T c.12457C>T (p.Arg4153Cys) c.12454C>T (p.Arg4152Cys) c.12433C>T (p.Arg4145Cys) c.12427C>T (p.Arg4143Cys) c.12421C>T (p.Arg4141Cys) c.12397C>T (p.Arg4133Cys) c.12220C>T (p.Arg4074Cys) c.12364C>T (p.Arg4122Cys) c.12436C>T (p.Arg4146Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784116G>A | CA085179 | RYR2 | c.*3496G>A (n.*3496G>A) c.12392G>A (p.Arg4131His) c.12425G>A (p.Arg4142His) c.4581G>A c.12404G>A (p.Arg4135His) c.2457G>A c.12356G>A (p.Arg4119His) n.3599G>A c.12458G>A (p.Arg4153His) c.12455G>A (p.Arg4152His) c.12434G>A (p.Arg4145His) c.12428G>A (p.Arg4143His) c.12422G>A (p.Arg4141His) c.12398G>A (p.Arg4133His) c.12221G>A (p.Arg4074His) c.12365G>A (p.Arg4122His) c.12437G>A (p.Arg4146His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784116G>C | CA345413143 | RYR2 | c.*3496G>C (n.*3496G>C) c.12392G>C (p.Arg4131Pro) c.12425G>C (p.Arg4142Pro) c.4581G>C c.12404G>C (p.Arg4135Pro) c.2457G>C c.12356G>C (p.Arg4119Pro) n.3599G>C c.12458G>C (p.Arg4153Pro) c.12455G>C (p.Arg4152Pro) c.12434G>C (p.Arg4145Pro) c.12428G>C (p.Arg4143Pro) c.12422G>C (p.Arg4141Pro) c.12398G>C (p.Arg4133Pro) c.12221G>C (p.Arg4074Pro) c.12365G>C (p.Arg4122Pro) c.12437G>C (p.Arg4146Pro) | |
1 | g.237784116G= | CA2487482391 | RYR2 | c.*3496G= (n.*3496G=) c.12392G= (p.Arg4131=) c.12425G= (p.Arg4142=) c.4581G= c.12404G= (p.Arg4135=) c.2457G= c.12356G= (p.Arg4119=) n.3599G= c.12458G= (p.Arg4153=) c.12455G= (p.Arg4152=) c.12434G= (p.Arg4145=) c.12428G= (p.Arg4143=) c.12422G= (p.Arg4141=) c.12398G= (p.Arg4133=) c.12221G= (p.Arg4074=) c.12365G= (p.Arg4122=) c.12437G= (p.Arg4146=) | |
1 | g.237784116G>T | CA345413144 | RYR2 | c.*3496G>T (n.*3496G>T) c.12392G>T (p.Arg4131Leu) c.12425G>T (p.Arg4142Leu) c.4581G>T c.12404G>T (p.Arg4135Leu) c.2457G>T c.12356G>T (p.Arg4119Leu) n.3599G>T c.12458G>T (p.Arg4153Leu) c.12455G>T (p.Arg4152Leu) c.12434G>T (p.Arg4145Leu) c.12428G>T (p.Arg4143Leu) c.12422G>T (p.Arg4141Leu) c.12398G>T (p.Arg4133Leu) c.12221G>T (p.Arg4074Leu) c.12365G>T (p.Arg4122Leu) c.12437G>T (p.Arg4146Leu) | ClinVar dbSNP COSMIC |
1 | g.237784117C>A | CA424032145 | RYR2 | c.*3497C>A (n.*3497C>A) c.12393C>A (p.Arg4131=) c.12426C>A (p.Arg4142=) c.4582C>A c.12405C>A (p.Arg4135=) c.2458C>A c.12357C>A (p.Arg4119=) n.3600C>A c.12459C>A (p.Arg4153=) c.12456C>A (p.Arg4152=) c.12435C>A (p.Arg4145=) c.12429C>A (p.Arg4143=) c.12423C>A (p.Arg4141=) c.12399C>A (p.Arg4133=) c.12222C>A (p.Arg4074=) c.12366C>A (p.Arg4122=) c.12438C>A (p.Arg4146=) | |
1 | g.237784117C>G | CA424032147 | RYR2 | c.*3497C>G (n.*3497C>G) c.12393C>G (p.Arg4131=) c.12426C>G (p.Arg4142=) c.4582C>G c.12405C>G (p.Arg4135=) c.2458C>G c.12357C>G (p.Arg4119=) n.3600C>G c.12459C>G (p.Arg4153=) c.12456C>G (p.Arg4152=) c.12435C>G (p.Arg4145=) c.12429C>G (p.Arg4143=) c.12423C>G (p.Arg4141=) c.12399C>G (p.Arg4133=) c.12222C>G (p.Arg4074=) c.12366C>G (p.Arg4122=) c.12438C>G (p.Arg4146=) | |
1 | g.237784117C>T | CA424032144 | RYR2 | c.*3497C>T (n.*3497C>T) c.12393C>T (p.Arg4131=) c.12426C>T (p.Arg4142=) c.4582C>T c.12405C>T (p.Arg4135=) c.2458C>T c.12357C>T (p.Arg4119=) n.3600C>T c.12459C>T (p.Arg4153=) c.12456C>T (p.Arg4152=) c.12435C>T (p.Arg4145=) c.12429C>T (p.Arg4143=) c.12423C>T (p.Arg4141=) c.12399C>T (p.Arg4133=) c.12222C>T (p.Arg4074=) c.12366C>T (p.Arg4122=) c.12438C>T (p.Arg4146=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784118A>C | CA345413145 | RYR2 | c.*3498A>C (n.*3498A>C) c.12394A>C (p.Ile4132Leu) c.12427A>C (p.Ile4143Leu) c.4583A>C c.12406A>C (p.Ile4136Leu) c.2459A>C c.12358A>C (p.Ile4120Leu) n.3601A>C c.12460A>C (p.Ile4154Leu) c.12457A>C (p.Ile4153Leu) c.12436A>C (p.Ile4146Leu) c.12430A>C (p.Ile4144Leu) c.12424A>C (p.Ile4142Leu) c.12400A>C (p.Ile4134Leu) c.12223A>C (p.Ile4075Leu) c.12367A>C (p.Ile4123Leu) c.12439A>C (p.Ile4147Leu) | |
1 | g.237784118A>G | CA345413147 | RYR2 | c.*3498A>G (n.*3498A>G) c.12394A>G (p.Ile4132Val) c.12427A>G (p.Ile4143Val) c.4583A>G c.12406A>G (p.Ile4136Val) c.2459A>G c.12358A>G (p.Ile4120Val) n.3601A>G c.12460A>G (p.Ile4154Val) c.12457A>G (p.Ile4153Val) c.12436A>G (p.Ile4146Val) c.12430A>G (p.Ile4144Val) c.12424A>G (p.Ile4142Val) c.12400A>G (p.Ile4134Val) c.12223A>G (p.Ile4075Val) c.12367A>G (p.Ile4123Val) c.12439A>G (p.Ile4147Val) | |
1 | g.237784118A>T | CA345413146 | RYR2 | c.*3498A>T (n.*3498A>T) c.12394A>T (p.Ile4132Phe) c.12427A>T (p.Ile4143Phe) c.4583A>T c.12406A>T (p.Ile4136Phe) c.2459A>T c.12358A>T (p.Ile4120Phe) n.3601A>T c.12460A>T (p.Ile4154Phe) c.12457A>T (p.Ile4153Phe) c.12436A>T (p.Ile4146Phe) c.12430A>T (p.Ile4144Phe) c.12424A>T (p.Ile4142Phe) c.12400A>T (p.Ile4134Phe) c.12223A>T (p.Ile4075Phe) c.12367A>T (p.Ile4123Phe) c.12439A>T (p.Ile4147Phe) | |
1 | g.237784119T>A | CA345413148 | RYR2 | c.*3499T>A (n.*3499T>A) c.12395T>A (p.Ile4132Asn) c.12428T>A (p.Ile4143Asn) c.4584T>A c.12407T>A (p.Ile4136Asn) c.2460T>A c.12359T>A (p.Ile4120Asn) n.3602T>A c.12461T>A (p.Ile4154Asn) c.12458T>A (p.Ile4153Asn) c.12437T>A (p.Ile4146Asn) c.12431T>A (p.Ile4144Asn) c.12425T>A (p.Ile4142Asn) c.12401T>A (p.Ile4134Asn) c.12224T>A (p.Ile4075Asn) c.12368T>A (p.Ile4123Asn) c.12440T>A (p.Ile4147Asn) | |
1 | g.237784119T>C | CA345413149 | RYR2 | c.*3499T>C (n.*3499T>C) c.12395T>C (p.Ile4132Thr) c.12428T>C (p.Ile4143Thr) c.4584T>C c.12407T>C (p.Ile4136Thr) c.2460T>C c.12359T>C (p.Ile4120Thr) n.3602T>C c.12461T>C (p.Ile4154Thr) c.12458T>C (p.Ile4153Thr) c.12437T>C (p.Ile4146Thr) c.12431T>C (p.Ile4144Thr) c.12425T>C (p.Ile4142Thr) c.12401T>C (p.Ile4134Thr) c.12224T>C (p.Ile4075Thr) c.12368T>C (p.Ile4123Thr) c.12440T>C (p.Ile4147Thr) | |
1 | g.237784119T>G | CA345413150 | RYR2 | c.*3499T>G (n.*3499T>G) c.12395T>G (p.Ile4132Ser) c.12428T>G (p.Ile4143Ser) c.4584T>G c.12407T>G (p.Ile4136Ser) c.2460T>G c.12359T>G (p.Ile4120Ser) n.3602T>G c.12461T>G (p.Ile4154Ser) c.12458T>G (p.Ile4153Ser) c.12437T>G (p.Ile4146Ser) c.12431T>G (p.Ile4144Ser) c.12425T>G (p.Ile4142Ser) c.12401T>G (p.Ile4134Ser) c.12224T>G (p.Ile4075Ser) c.12368T>G (p.Ile4123Ser) c.12440T>G (p.Ile4147Ser) | |
1 | g.237784120C>A | CA424032150 | RYR2 | c.*3500C>A (n.*3500C>A) c.12396C>A (p.Ile4132=) c.12429C>A (p.Ile4143=) c.4585C>A c.12408C>A (p.Ile4136=) c.2461C>A c.12360C>A (p.Ile4120=) n.3603C>A c.12462C>A (p.Ile4154=) c.12459C>A (p.Ile4153=) c.12438C>A (p.Ile4146=) c.12432C>A (p.Ile4144=) c.12426C>A (p.Ile4142=) c.12402C>A (p.Ile4134=) c.12225C>A (p.Ile4075=) c.12369C>A (p.Ile4123=) c.12441C>A (p.Ile4147=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784120C= | CA2487482392 | RYR2 | c.*3500C= (n.*3500C=) c.12396C= (p.Ile4132=) c.12429C= (p.Ile4143=) c.4585C= c.12408C= (p.Ile4136=) c.2461C= c.12360C= (p.Ile4120=) n.3603C= c.12462C= (p.Ile4154=) c.12459C= (p.Ile4153=) c.12438C= (p.Ile4146=) c.12432C= (p.Ile4144=) c.12426C= (p.Ile4142=) c.12402C= (p.Ile4134=) c.12225C= (p.Ile4075=) c.12369C= (p.Ile4123=) c.12441C= (p.Ile4147=) | |
1 | g.237784120C>G | CA345413151 | RYR2 | c.*3500C>G (n.*3500C>G) c.12396C>G (p.Ile4132Met) c.12429C>G (p.Ile4143Met) c.4585C>G c.12408C>G (p.Ile4136Met) c.2461C>G c.12360C>G (p.Ile4120Met) n.3603C>G c.12462C>G (p.Ile4154Met) c.12459C>G (p.Ile4153Met) c.12438C>G (p.Ile4146Met) c.12432C>G (p.Ile4144Met) c.12426C>G (p.Ile4142Met) c.12402C>G (p.Ile4134Met) c.12225C>G (p.Ile4075Met) c.12369C>G (p.Ile4123Met) c.12441C>G (p.Ile4147Met) | gnomAD v4 |
1 | g.237784120C>T | CA424032149 | RYR2 | c.*3500C>T (n.*3500C>T) c.12396C>T (p.Ile4132=) c.12429C>T (p.Ile4143=) c.4585C>T c.12408C>T (p.Ile4136=) c.2461C>T c.12360C>T (p.Ile4120=) n.3603C>T c.12462C>T (p.Ile4154=) c.12459C>T (p.Ile4153=) c.12438C>T (p.Ile4146=) c.12432C>T (p.Ile4144=) c.12426C>T (p.Ile4142=) c.12402C>T (p.Ile4134=) c.12225C>T (p.Ile4075=) c.12369C>T (p.Ile4123=) c.12441C>T (p.Ile4147=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784121G>A | CA39827584 | RYR2 | c.*3501G>A (n.*3501G>A) c.12397G>A (p.Glu4133Lys) c.12430G>A (p.Glu4144Lys) c.4586G>A c.12409G>A (p.Glu4137Lys) c.2462G>A c.12361G>A (p.Glu4121Lys) n.3604G>A c.12463G>A (p.Glu4155Lys) c.12460G>A (p.Glu4154Lys) c.12439G>A (p.Glu4147Lys) c.12433G>A (p.Glu4145Lys) c.12427G>A (p.Glu4143Lys) c.12403G>A (p.Glu4135Lys) c.12226G>A (p.Glu4076Lys) c.12370G>A (p.Glu4124Lys) c.12442G>A (p.Glu4148Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784121G>C | CA345413153 | RYR2 | c.*3501G>C (n.*3501G>C) c.12397G>C (p.Glu4133Gln) c.12430G>C (p.Glu4144Gln) c.4586G>C c.12409G>C (p.Glu4137Gln) c.2462G>C c.12361G>C (p.Glu4121Gln) n.3604G>C c.12463G>C (p.Glu4155Gln) c.12460G>C (p.Glu4154Gln) c.12439G>C (p.Glu4147Gln) c.12433G>C (p.Glu4145Gln) c.12427G>C (p.Glu4143Gln) c.12403G>C (p.Glu4135Gln) c.12226G>C (p.Glu4076Gln) c.12370G>C (p.Glu4124Gln) c.12442G>C (p.Glu4148Gln) | |
1 | g.237784121G= | CA1143537613 | RYR2 | c.*3501G= (n.*3501G=) c.12397G= (p.Glu4133=) c.12430G= (p.Glu4144=) c.4586G= c.12409G= (p.Glu4137=) c.2462G= c.12361G= (p.Glu4121=) n.3604G= c.12463G= (p.Glu4155=) c.12460G= (p.Glu4154=) c.12439G= (p.Glu4147=) c.12433G= (p.Glu4145=) c.12427G= (p.Glu4143=) c.12403G= (p.Glu4135=) c.12226G= (p.Glu4076=) c.12370G= (p.Glu4124=) c.12442G= (p.Glu4148=) | |
1 | g.237784121G>T | CA39827589 | RYR2 | c.*3501G>T (n.*3501G>T) c.12397G>T (p.Glu4133Ter) c.12430G>T (p.Glu4144Ter) c.4586G>T c.12409G>T (p.Glu4137Ter) c.2462G>T c.12361G>T (p.Glu4121Ter) n.3604G>T c.12463G>T (p.Glu4155Ter) c.12460G>T (p.Glu4154Ter) c.12439G>T (p.Glu4147Ter) c.12433G>T (p.Glu4145Ter) c.12427G>T (p.Glu4143Ter) c.12403G>T (p.Glu4135Ter) c.12226G>T (p.Glu4076Ter) c.12370G>T (p.Glu4124Ter) c.12442G>T (p.Glu4148Ter) | dbSNP |
1 | g.237784121dup | CA2651213123 | RYR2 | c.*3501dup (n.*3501dup) c.12397dup (p.Glu4133GlyfsTer15) c.12430dup (p.Glu4144GlyfsTer15) c.4586dup c.12409dup (p.Glu4137GlyfsTer15) c.2462dup c.12361dup (p.Glu4121GlyfsTer15) n.3604dup c.12463dup (p.Glu4155GlyfsTer15) c.12460dup (p.Glu4154GlyfsTer15) c.12439dup (p.Glu4147GlyfsTer15) c.12433dup (p.Glu4145GlyfsTer15) c.12427dup (p.Glu4143GlyfsTer15) c.12403dup (p.Glu4135GlyfsTer15) c.12226dup (p.Glu4076GlyfsTer15) c.12370dup (p.Glu4124GlyfsTer15) c.12442dup (p.Glu4148GlyfsTer15) | gnomAD v4 |
1 | g.237784122A>C | CA345413154 | RYR2 | c.*3502A>C (n.*3502A>C) c.12398A>C (p.Glu4133Ala) c.12431A>C (p.Glu4144Ala) c.4587A>C c.12410A>C (p.Glu4137Ala) c.2463A>C c.12362A>C (p.Glu4121Ala) n.3605A>C c.12464A>C (p.Glu4155Ala) c.12461A>C (p.Glu4154Ala) c.12440A>C (p.Glu4147Ala) c.12434A>C (p.Glu4145Ala) c.12428A>C (p.Glu4143Ala) c.12404A>C (p.Glu4135Ala) c.12227A>C (p.Glu4076Ala) c.12371A>C (p.Glu4124Ala) c.12443A>C (p.Glu4148Ala) | |
1 | g.237784122A>G | CA345413155 | RYR2 | c.*3502A>G (n.*3502A>G) c.12398A>G (p.Glu4133Gly) c.12431A>G (p.Glu4144Gly) c.4587A>G c.12410A>G (p.Glu4137Gly) c.2463A>G c.12362A>G (p.Glu4121Gly) n.3605A>G c.12464A>G (p.Glu4155Gly) c.12461A>G (p.Glu4154Gly) c.12440A>G (p.Glu4147Gly) c.12434A>G (p.Glu4145Gly) c.12428A>G (p.Glu4143Gly) c.12404A>G (p.Glu4135Gly) c.12227A>G (p.Glu4076Gly) c.12371A>G (p.Glu4124Gly) c.12443A>G (p.Glu4148Gly) | |
1 | g.237784122A>T | CA345413157 | RYR2 | c.*3502A>T (n.*3502A>T) c.12398A>T (p.Glu4133Val) c.12431A>T (p.Glu4144Val) c.4587A>T c.12410A>T (p.Glu4137Val) c.2463A>T c.12362A>T (p.Glu4121Val) n.3605A>T c.12464A>T (p.Glu4155Val) c.12461A>T (p.Glu4154Val) c.12440A>T (p.Glu4147Val) c.12434A>T (p.Glu4145Val) c.12428A>T (p.Glu4143Val) c.12404A>T (p.Glu4135Val) c.12227A>T (p.Glu4076Val) c.12371A>T (p.Glu4124Val) c.12443A>T (p.Glu4148Val) | |
1 | g.237784123A>C | CA345413158 | RYR2 | c.*3503A>C (n.*3503A>C) c.12399A>C (p.Glu4133Asp) c.12432A>C (p.Glu4144Asp) c.4588A>C c.12411A>C (p.Glu4137Asp) c.2464A>C c.12363A>C (p.Glu4121Asp) n.3606A>C c.12465A>C (p.Glu4155Asp) c.12462A>C (p.Glu4154Asp) c.12441A>C (p.Glu4147Asp) c.12435A>C (p.Glu4145Asp) c.12429A>C (p.Glu4143Asp) c.12405A>C (p.Glu4135Asp) c.12228A>C (p.Glu4076Asp) c.12372A>C (p.Glu4124Asp) c.12444A>C (p.Glu4148Asp) | |
1 | g.237784123A>G | CA424032154 | RYR2 | c.*3503A>G (n.*3503A>G) c.12399A>G (p.Glu4133=) c.12432A>G (p.Glu4144=) c.4588A>G c.12411A>G (p.Glu4137=) c.2464A>G c.12363A>G (p.Glu4121=) n.3606A>G c.12465A>G (p.Glu4155=) c.12462A>G (p.Glu4154=) c.12441A>G (p.Glu4147=) c.12435A>G (p.Glu4145=) c.12429A>G (p.Glu4143=) c.12405A>G (p.Glu4135=) c.12228A>G (p.Glu4076=) c.12372A>G (p.Glu4124=) c.12444A>G (p.Glu4148=) | |
1 | g.237784123A>T | CA345413159 | RYR2 | c.*3503A>T (n.*3503A>T) c.12399A>T (p.Glu4133Asp) c.12432A>T (p.Glu4144Asp) c.4588A>T c.12411A>T (p.Glu4137Asp) c.2464A>T c.12363A>T (p.Glu4121Asp) n.3606A>T c.12465A>T (p.Glu4155Asp) c.12462A>T (p.Glu4154Asp) c.12441A>T (p.Glu4147Asp) c.12435A>T (p.Glu4145Asp) c.12429A>T (p.Glu4143Asp) c.12405A>T (p.Glu4135Asp) c.12228A>T (p.Glu4076Asp) c.12372A>T (p.Glu4124Asp) c.12444A>T (p.Glu4148Asp) | |
1 | g.237784124A>C | CA345413162 | RYR2 | c.*3504A>C (n.*3504A>C) c.12400A>C (p.Ile4134Leu) c.12433A>C (p.Ile4145Leu) c.4589A>C c.12412A>C (p.Ile4138Leu) c.2465A>C c.12364A>C (p.Ile4122Leu) n.3607A>C c.12466A>C (p.Ile4156Leu) c.12463A>C (p.Ile4155Leu) c.12442A>C (p.Ile4148Leu) c.12436A>C (p.Ile4146Leu) c.12430A>C (p.Ile4144Leu) c.12406A>C (p.Ile4136Leu) c.12229A>C (p.Ile4077Leu) c.12373A>C (p.Ile4125Leu) c.12445A>C (p.Ile4149Leu) | |
1 | g.237784124A>G | CA345413163 | RYR2 | c.*3504A>G (n.*3504A>G) c.12400A>G (p.Ile4134Val) c.12433A>G (p.Ile4145Val) c.4589A>G c.12412A>G (p.Ile4138Val) c.2465A>G c.12364A>G (p.Ile4122Val) n.3607A>G c.12466A>G (p.Ile4156Val) c.12463A>G (p.Ile4155Val) c.12442A>G (p.Ile4148Val) c.12436A>G (p.Ile4146Val) c.12430A>G (p.Ile4144Val) c.12406A>G (p.Ile4136Val) c.12229A>G (p.Ile4077Val) c.12373A>G (p.Ile4125Val) c.12445A>G (p.Ile4149Val) | |
1 | g.237784124A>T | CA345413161 | RYR2 | c.*3504A>T (n.*3504A>T) c.12400A>T (p.Ile4134Phe) c.12433A>T (p.Ile4145Phe) c.4589A>T c.12412A>T (p.Ile4138Phe) c.2465A>T c.12364A>T (p.Ile4122Phe) n.3607A>T c.12466A>T (p.Ile4156Phe) c.12463A>T (p.Ile4155Phe) c.12442A>T (p.Ile4148Phe) c.12436A>T (p.Ile4146Phe) c.12430A>T (p.Ile4144Phe) c.12406A>T (p.Ile4136Phe) c.12229A>T (p.Ile4077Phe) c.12373A>T (p.Ile4125Phe) c.12445A>T (p.Ile4149Phe) | |
1 | g.237784125T>A | CA345413164 | RYR2 | c.*3505T>A (n.*3505T>A) c.12401T>A (p.Ile4134Asn) c.12434T>A (p.Ile4145Asn) c.4590T>A c.12413T>A (p.Ile4138Asn) c.2466T>A c.12365T>A (p.Ile4122Asn) n.3608T>A c.12467T>A (p.Ile4156Asn) c.12464T>A (p.Ile4155Asn) c.12443T>A (p.Ile4148Asn) c.12437T>A (p.Ile4146Asn) c.12431T>A (p.Ile4144Asn) c.12407T>A (p.Ile4136Asn) c.12230T>A (p.Ile4077Asn) c.12374T>A (p.Ile4125Asn) c.12446T>A (p.Ile4149Asn) | |
1 | g.237784125T>C | CA345413166 | RYR2 | c.*3505T>C (n.*3505T>C) c.12401T>C (p.Ile4134Thr) c.12434T>C (p.Ile4145Thr) c.4590T>C c.12413T>C (p.Ile4138Thr) c.2466T>C c.12365T>C (p.Ile4122Thr) n.3608T>C c.12467T>C (p.Ile4156Thr) c.12464T>C (p.Ile4155Thr) c.12443T>C (p.Ile4148Thr) c.12437T>C (p.Ile4146Thr) c.12431T>C (p.Ile4144Thr) c.12407T>C (p.Ile4136Thr) c.12230T>C (p.Ile4077Thr) c.12374T>C (p.Ile4125Thr) c.12446T>C (p.Ile4149Thr) | |
1 | g.237784125T>G | CA345413169 | RYR2 | c.*3505T>G (n.*3505T>G) c.12401T>G (p.Ile4134Ser) c.12434T>G (p.Ile4145Ser) c.4590T>G c.12413T>G (p.Ile4138Ser) c.2466T>G c.12365T>G (p.Ile4122Ser) n.3608T>G c.12467T>G (p.Ile4156Ser) c.12464T>G (p.Ile4155Ser) c.12443T>G (p.Ile4148Ser) c.12437T>G (p.Ile4146Ser) c.12431T>G (p.Ile4144Ser) c.12407T>G (p.Ile4136Ser) c.12230T>G (p.Ile4077Ser) c.12374T>G (p.Ile4125Ser) c.12446T>G (p.Ile4149Ser) | |
1 | g.237784126C>A | CA424032155 | RYR2 | c.*3506C>A (n.*3506C>A) c.12402C>A (p.Ile4134=) c.12435C>A (p.Ile4145=) c.4591C>A c.12414C>A (p.Ile4138=) c.2467C>A c.12366C>A (p.Ile4122=) n.3609C>A c.12468C>A (p.Ile4156=) c.12465C>A (p.Ile4155=) c.12444C>A (p.Ile4148=) c.12438C>A (p.Ile4146=) c.12432C>A (p.Ile4144=) c.12408C>A (p.Ile4136=) c.12231C>A (p.Ile4077=) c.12375C>A (p.Ile4125=) c.12447C>A (p.Ile4149=) | |
1 | g.237784126C>G | CA345413170 | RYR2 | c.*3506C>G (n.*3506C>G) c.12402C>G (p.Ile4134Met) c.12435C>G (p.Ile4145Met) c.4591C>G c.12414C>G (p.Ile4138Met) c.2467C>G c.12366C>G (p.Ile4122Met) n.3609C>G c.12468C>G (p.Ile4156Met) c.12465C>G (p.Ile4155Met) c.12444C>G (p.Ile4148Met) c.12438C>G (p.Ile4146Met) c.12432C>G (p.Ile4144Met) c.12408C>G (p.Ile4136Met) c.12231C>G (p.Ile4077Met) c.12375C>G (p.Ile4125Met) c.12447C>G (p.Ile4149Met) | |
1 | g.237784126C>T | CA424032156 | RYR2 | c.*3506C>T (n.*3506C>T) c.12402C>T (p.Ile4134=) c.12435C>T (p.Ile4145=) c.4591C>T c.12414C>T (p.Ile4138=) c.2467C>T c.12366C>T (p.Ile4122=) n.3609C>T c.12468C>T (p.Ile4156=) c.12465C>T (p.Ile4155=) c.12444C>T (p.Ile4148=) c.12438C>T (p.Ile4146=) c.12432C>T (p.Ile4144=) c.12408C>T (p.Ile4136=) c.12231C>T (p.Ile4077=) c.12375C>T (p.Ile4125=) c.12447C>T (p.Ile4149=) | |
1 | g.237784127A= | CA2487482393 | RYR2 | c.*3507A= (n.*3507A=) c.12403A= (p.Met4135=) c.12436A= (p.Met4146=) c.4592A= c.12415A= (p.Met4139=) c.2468A= c.12367A= (p.Met4123=) n.3610A= c.12469A= (p.Met4157=) c.12466A= (p.Met4156=) c.12445A= (p.Met4149=) c.12439A= (p.Met4147=) c.12433A= (p.Met4145=) c.12409A= (p.Met4137=) c.12232A= (p.Met4078=) c.12376A= (p.Met4126=) c.12448A= (p.Met4150=) | |
1 | g.237784127A>C | CA345413175 | RYR2 | c.*3507A>C (n.*3507A>C) c.12403A>C (p.Met4135Leu) c.12436A>C (p.Met4146Leu) c.4592A>C c.12415A>C (p.Met4139Leu) c.2468A>C c.12367A>C (p.Met4123Leu) n.3610A>C c.12469A>C (p.Met4157Leu) c.12466A>C (p.Met4156Leu) c.12445A>C (p.Met4149Leu) c.12439A>C (p.Met4147Leu) c.12433A>C (p.Met4145Leu) c.12409A>C (p.Met4137Leu) c.12232A>C (p.Met4078Leu) c.12376A>C (p.Met4126Leu) c.12448A>C (p.Met4150Leu) | |
1 | g.237784127A>G | CA345413174 | RYR2 | c.*3507A>G (n.*3507A>G) c.12403A>G (p.Met4135Val) c.12436A>G (p.Met4146Val) c.4592A>G c.12415A>G (p.Met4139Val) c.2468A>G c.12367A>G (p.Met4123Val) n.3610A>G c.12469A>G (p.Met4157Val) c.12466A>G (p.Met4156Val) c.12445A>G (p.Met4149Val) c.12439A>G (p.Met4147Val) c.12433A>G (p.Met4145Val) c.12409A>G (p.Met4137Val) c.12232A>G (p.Met4078Val) c.12376A>G (p.Met4126Val) c.12448A>G (p.Met4150Val) | ClinVar dbSNP gnomAD v4 |
1 | g.237784127A>T | CA345413171 | RYR2 | c.*3507A>T (n.*3507A>T) c.12403A>T (p.Met4135Leu) c.12436A>T (p.Met4146Leu) c.4592A>T c.12415A>T (p.Met4139Leu) c.2468A>T c.12367A>T (p.Met4123Leu) n.3610A>T c.12469A>T (p.Met4157Leu) c.12466A>T (p.Met4156Leu) c.12445A>T (p.Met4149Leu) c.12439A>T (p.Met4147Leu) c.12433A>T (p.Met4145Leu) c.12409A>T (p.Met4137Leu) c.12232A>T (p.Met4078Leu) c.12376A>T (p.Met4126Leu) c.12448A>T (p.Met4150Leu) | |
1 | g.237784128T>A | CA345413177 | RYR2 | c.*3508T>A (n.*3508T>A) c.12404T>A (p.Met4135Lys) c.12437T>A (p.Met4146Lys) c.4593T>A c.12416T>A (p.Met4139Lys) c.2469T>A c.12368T>A (p.Met4123Lys) n.3611T>A c.12470T>A (p.Met4157Lys) c.12467T>A (p.Met4156Lys) c.12446T>A (p.Met4149Lys) c.12440T>A (p.Met4147Lys) c.12434T>A (p.Met4145Lys) c.12410T>A (p.Met4137Lys) c.12233T>A (p.Met4078Lys) c.12377T>A (p.Met4126Lys) c.12449T>A (p.Met4150Lys) | |
1 | g.237784128T>C | CA085180 | RYR2 | c.*3508T>C (n.*3508T>C) c.12404T>C (p.Met4135Thr) c.12437T>C (p.Met4146Thr) c.4593T>C c.12416T>C (p.Met4139Thr) c.2469T>C c.12368T>C (p.Met4123Thr) n.3611T>C c.12470T>C (p.Met4157Thr) c.12467T>C (p.Met4156Thr) c.12446T>C (p.Met4149Thr) c.12440T>C (p.Met4147Thr) c.12434T>C (p.Met4145Thr) c.12410T>C (p.Met4137Thr) c.12233T>C (p.Met4078Thr) c.12377T>C (p.Met4126Thr) c.12449T>C (p.Met4150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784128T>G | CA345413179 | RYR2 | c.*3508T>G (n.*3508T>G) c.12404T>G (p.Met4135Arg) c.12437T>G (p.Met4146Arg) c.4593T>G c.12416T>G (p.Met4139Arg) c.2469T>G c.12368T>G (p.Met4123Arg) n.3611T>G c.12470T>G (p.Met4157Arg) c.12467T>G (p.Met4156Arg) c.12446T>G (p.Met4149Arg) c.12440T>G (p.Met4147Arg) c.12434T>G (p.Met4145Arg) c.12410T>G (p.Met4137Arg) c.12233T>G (p.Met4078Arg) c.12377T>G (p.Met4126Arg) c.12449T>G (p.Met4150Arg) | |
1 | g.237784128T= | CA2487482394 | RYR2 | c.*3508T= (n.*3508T=) c.12404T= (p.Met4135=) c.12437T= (p.Met4146=) c.4593T= c.12416T= (p.Met4139=) c.2469T= c.12368T= (p.Met4123=) n.3611T= c.12470T= (p.Met4157=) c.12467T= (p.Met4156=) c.12446T= (p.Met4149=) c.12440T= (p.Met4147=) c.12434T= (p.Met4145=) c.12410T= (p.Met4137=) c.12233T= (p.Met4078=) c.12377T= (p.Met4126=) c.12449T= (p.Met4150=) | |
1 | g.237784129G>A | CA345413181 | RYR2 | c.*3509G>A (n.*3509G>A) c.12405G>A (p.Met4135Ile) c.12438G>A (p.Met4146Ile) c.4594G>A c.12417G>A (p.Met4139Ile) c.2470G>A c.12369G>A (p.Met4123Ile) n.3612G>A c.12471G>A (p.Met4157Ile) c.12468G>A (p.Met4156Ile) c.12447G>A (p.Met4149Ile) c.12441G>A (p.Met4147Ile) c.12435G>A (p.Met4145Ile) c.12411G>A (p.Met4137Ile) c.12234G>A (p.Met4078Ile) c.12378G>A (p.Met4126Ile) c.12450G>A (p.Met4150Ile) | |
1 | g.237784129G>C | CA345413183 | RYR2 | c.*3509G>C (n.*3509G>C) c.12405G>C (p.Met4135Ile) c.12438G>C (p.Met4146Ile) c.4594G>C c.12417G>C (p.Met4139Ile) c.2470G>C c.12369G>C (p.Met4123Ile) n.3612G>C c.12471G>C (p.Met4157Ile) c.12468G>C (p.Met4156Ile) c.12447G>C (p.Met4149Ile) c.12441G>C (p.Met4147Ile) c.12435G>C (p.Met4145Ile) c.12411G>C (p.Met4137Ile) c.12234G>C (p.Met4078Ile) c.12378G>C (p.Met4126Ile) c.12450G>C (p.Met4150Ile) | |
1 | g.237784129G>T | CA345413185 | RYR2 | c.*3509G>T (n.*3509G>T) c.12405G>T (p.Met4135Ile) c.12438G>T (p.Met4146Ile) c.4594G>T c.12417G>T (p.Met4139Ile) c.2470G>T c.12369G>T (p.Met4123Ile) n.3612G>T c.12471G>T (p.Met4157Ile) c.12468G>T (p.Met4156Ile) c.12447G>T (p.Met4149Ile) c.12441G>T (p.Met4147Ile) c.12435G>T (p.Met4145Ile) c.12411G>T (p.Met4137Ile) c.12234G>T (p.Met4078Ile) c.12378G>T (p.Met4126Ile) c.12450G>T (p.Met4150Ile) | |
1 | g.237784131del | CA2651213124 | RYR2 | c.*3511del (n.*3511del) c.12407del (p.Gly4136GlufsTer?) c.12440del (p.Gly4147GlufsTer?) c.4596del c.12419del (p.Gly4140GlufsTer?) c.2472del c.12371del (p.Gly4124GlufsTer?) n.3614del c.12473del (p.Gly4158GlufsTer?) c.12470del (p.Gly4157GlufsTer?) c.12449del (p.Gly4150GlufsTer?) c.12443del (p.Gly4148GlufsTer?) c.12437del (p.Gly4146GlufsTer?) c.12413del (p.Gly4138GlufsTer?) c.12236del (p.Gly4079GlufsTer?) c.12380del (p.Gly4127GlufsTer?) c.12452del (p.Gly4151GlufsTer?) | gnomAD v4 |
1 | g.237784130G>A | CA345413186 | RYR2 | c.*3510G>A (n.*3510G>A) c.12406G>A (p.Gly4136Arg) c.12439G>A (p.Gly4147Arg) c.4595G>A c.12418G>A (p.Gly4140Arg) c.2471G>A c.12370G>A (p.Gly4124Arg) n.3613G>A c.12472G>A (p.Gly4158Arg) c.12469G>A (p.Gly4157Arg) c.12448G>A (p.Gly4150Arg) c.12442G>A (p.Gly4148Arg) c.12436G>A (p.Gly4146Arg) c.12412G>A (p.Gly4138Arg) c.12235G>A (p.Gly4079Arg) c.12379G>A (p.Gly4127Arg) c.12451G>A (p.Gly4151Arg) | |
1 | g.237784130G>C | CA345413190 | RYR2 | c.*3510G>C (n.*3510G>C) c.12406G>C (p.Gly4136Arg) c.12439G>C (p.Gly4147Arg) c.4595G>C c.12418G>C (p.Gly4140Arg) c.2471G>C c.12370G>C (p.Gly4124Arg) n.3613G>C c.12472G>C (p.Gly4158Arg) c.12469G>C (p.Gly4157Arg) c.12448G>C (p.Gly4150Arg) c.12442G>C (p.Gly4148Arg) c.12436G>C (p.Gly4146Arg) c.12412G>C (p.Gly4138Arg) c.12235G>C (p.Gly4079Arg) c.12379G>C (p.Gly4127Arg) c.12451G>C (p.Gly4151Arg) | |
1 | g.237784130G>T | CA345413188 | RYR2 | c.*3510G>T (n.*3510G>T) c.12406G>T (p.Gly4136Ter) c.12439G>T (p.Gly4147Ter) c.4595G>T c.12418G>T (p.Gly4140Ter) c.2471G>T c.12370G>T (p.Gly4124Ter) n.3613G>T c.12472G>T (p.Gly4158Ter) c.12469G>T (p.Gly4157Ter) c.12448G>T (p.Gly4150Ter) c.12442G>T (p.Gly4148Ter) c.12436G>T (p.Gly4146Ter) c.12412G>T (p.Gly4138Ter) c.12235G>T (p.Gly4079Ter) c.12379G>T (p.Gly4127Ter) c.12451G>T (p.Gly4151Ter) | |
1 | g.237784131G>A | CA345413192 | RYR2 | c.*3511G>A (n.*3511G>A) c.12407G>A (p.Gly4136Glu) c.12440G>A (p.Gly4147Glu) c.4596G>A c.12419G>A (p.Gly4140Glu) c.2472G>A c.12371G>A (p.Gly4124Glu) n.3614G>A c.12473G>A (p.Gly4158Glu) c.12470G>A (p.Gly4157Glu) c.12449G>A (p.Gly4150Glu) c.12443G>A (p.Gly4148Glu) c.12437G>A (p.Gly4146Glu) c.12413G>A (p.Gly4138Glu) c.12236G>A (p.Gly4079Glu) c.12380G>A (p.Gly4127Glu) c.12452G>A (p.Gly4151Glu) | |
1 | g.237784131G>C | CA345413193 | RYR2 | c.*3511G>C (n.*3511G>C) c.12407G>C (p.Gly4136Ala) c.12440G>C (p.Gly4147Ala) c.4596G>C c.12419G>C (p.Gly4140Ala) c.2472G>C c.12371G>C (p.Gly4124Ala) n.3614G>C c.12473G>C (p.Gly4158Ala) c.12470G>C (p.Gly4157Ala) c.12449G>C (p.Gly4150Ala) c.12443G>C (p.Gly4148Ala) c.12437G>C (p.Gly4146Ala) c.12413G>C (p.Gly4138Ala) c.12236G>C (p.Gly4079Ala) c.12380G>C (p.Gly4127Ala) c.12452G>C (p.Gly4151Ala) | ClinVar |
1 | g.237784131G>T | CA345413195 | RYR2 | c.*3511G>T (n.*3511G>T) c.12407G>T (p.Gly4136Val) c.12440G>T (p.Gly4147Val) c.4596G>T c.12419G>T (p.Gly4140Val) c.2472G>T c.12371G>T (p.Gly4124Val) n.3614G>T c.12473G>T (p.Gly4158Val) c.12470G>T (p.Gly4157Val) c.12449G>T (p.Gly4150Val) c.12443G>T (p.Gly4148Val) c.12437G>T (p.Gly4146Val) c.12413G>T (p.Gly4138Val) c.12236G>T (p.Gly4079Val) c.12380G>T (p.Gly4127Val) c.12452G>T (p.Gly4151Val) | |
1 | g.237784132A>C | CA424032161 | RYR2 | c.*3512A>C (n.*3512A>C) c.12408A>C (p.Gly4136=) c.12441A>C (p.Gly4147=) c.4597A>C c.12420A>C (p.Gly4140=) c.2473A>C c.12372A>C (p.Gly4124=) n.3615A>C c.12474A>C (p.Gly4158=) c.12471A>C (p.Gly4157=) c.12450A>C (p.Gly4150=) c.12444A>C (p.Gly4148=) c.12438A>C (p.Gly4146=) c.12414A>C (p.Gly4138=) c.12237A>C (p.Gly4079=) c.12381A>C (p.Gly4127=) c.12453A>C (p.Gly4151=) | |
1 | g.237784132A>G | CA424032162 | RYR2 | c.*3512A>G (n.*3512A>G) c.12408A>G (p.Gly4136=) c.12441A>G (p.Gly4147=) c.4597A>G c.12420A>G (p.Gly4140=) c.2473A>G c.12372A>G (p.Gly4124=) n.3615A>G c.12474A>G (p.Gly4158=) c.12471A>G (p.Gly4157=) c.12450A>G (p.Gly4150=) c.12444A>G (p.Gly4148=) c.12438A>G (p.Gly4146=) c.12414A>G (p.Gly4138=) c.12237A>G (p.Gly4079=) c.12381A>G (p.Gly4127=) c.12453A>G (p.Gly4151=) | |
1 | g.237784132A>T | CA424032163 | RYR2 | c.*3512A>T (n.*3512A>T) c.12408A>T (p.Gly4136=) c.12441A>T (p.Gly4147=) c.4597A>T c.12420A>T (p.Gly4140=) c.2473A>T c.12372A>T (p.Gly4124=) n.3615A>T c.12474A>T (p.Gly4158=) c.12471A>T (p.Gly4157=) c.12450A>T (p.Gly4150=) c.12444A>T (p.Gly4148=) c.12438A>T (p.Gly4146=) c.12414A>T (p.Gly4138=) c.12237A>T (p.Gly4079=) c.12381A>T (p.Gly4127=) c.12453A>T (p.Gly4151=) | |
1 | g.237784133A>C | CA345413198 | RYR2 | c.*3513A>C (n.*3513A>C) c.12409A>C (p.Ser4137Arg) c.12442A>C (p.Ser4148Arg) c.4598A>C c.12421A>C (p.Ser4141Arg) c.2474A>C c.12373A>C (p.Ser4125Arg) n.3616A>C c.12475A>C (p.Ser4159Arg) c.12472A>C (p.Ser4158Arg) c.12451A>C (p.Ser4151Arg) c.12445A>C (p.Ser4149Arg) c.12439A>C (p.Ser4147Arg) c.12415A>C (p.Ser4139Arg) c.12238A>C (p.Ser4080Arg) c.12382A>C (p.Ser4128Arg) c.12454A>C (p.Ser4152Arg) | |
1 | g.237784133A>G | CA345413199 | RYR2 | c.*3513A>G (n.*3513A>G) c.12409A>G (p.Ser4137Gly) c.12442A>G (p.Ser4148Gly) c.4598A>G c.12421A>G (p.Ser4141Gly) c.2474A>G c.12373A>G (p.Ser4125Gly) n.3616A>G c.12475A>G (p.Ser4159Gly) c.12472A>G (p.Ser4158Gly) c.12451A>G (p.Ser4151Gly) c.12445A>G (p.Ser4149Gly) c.12439A>G (p.Ser4147Gly) c.12415A>G (p.Ser4139Gly) c.12238A>G (p.Ser4080Gly) c.12382A>G (p.Ser4128Gly) c.12454A>G (p.Ser4152Gly) | |
1 | g.237784133A>T | CA345413201 | RYR2 | c.*3513A>T (n.*3513A>T) c.12409A>T (p.Ser4137Cys) c.12442A>T (p.Ser4148Cys) c.4598A>T c.12421A>T (p.Ser4141Cys) c.2474A>T c.12373A>T (p.Ser4125Cys) n.3616A>T c.12475A>T (p.Ser4159Cys) c.12472A>T (p.Ser4158Cys) c.12451A>T (p.Ser4151Cys) c.12445A>T (p.Ser4149Cys) c.12439A>T (p.Ser4147Cys) c.12415A>T (p.Ser4139Cys) c.12238A>T (p.Ser4080Cys) c.12382A>T (p.Ser4128Cys) c.12454A>T (p.Ser4152Cys) | |
1 | g.237784134G>A | CA345413203 | RYR2 | c.*3514G>A (n.*3514G>A) c.12410G>A (p.Ser4137Asn) c.12443G>A (p.Ser4148Asn) c.4599G>A c.12422G>A (p.Ser4141Asn) c.2475G>A c.12374G>A (p.Ser4125Asn) n.3617G>A c.12476G>A (p.Ser4159Asn) c.12473G>A (p.Ser4158Asn) c.12452G>A (p.Ser4151Asn) c.12446G>A (p.Ser4149Asn) c.12440G>A (p.Ser4147Asn) c.12416G>A (p.Ser4139Asn) c.12239G>A (p.Ser4080Asn) c.12383G>A (p.Ser4128Asn) c.12455G>A (p.Ser4152Asn) | |
1 | g.237784134G>C | CA345413205 | RYR2 | c.*3514G>C (n.*3514G>C) c.12410G>C (p.Ser4137Thr) c.12443G>C (p.Ser4148Thr) c.4599G>C c.12422G>C (p.Ser4141Thr) c.2475G>C c.12374G>C (p.Ser4125Thr) n.3617G>C c.12476G>C (p.Ser4159Thr) c.12473G>C (p.Ser4158Thr) c.12452G>C (p.Ser4151Thr) c.12446G>C (p.Ser4149Thr) c.12440G>C (p.Ser4147Thr) c.12416G>C (p.Ser4139Thr) c.12239G>C (p.Ser4080Thr) c.12383G>C (p.Ser4128Thr) c.12455G>C (p.Ser4152Thr) | |
1 | g.237784134G>T | CA345413206 | RYR2 | c.*3514G>T (n.*3514G>T) c.12410G>T (p.Ser4137Ile) c.12443G>T (p.Ser4148Ile) c.4599G>T c.12422G>T (p.Ser4141Ile) c.2475G>T c.12374G>T (p.Ser4125Ile) n.3617G>T c.12476G>T (p.Ser4159Ile) c.12473G>T (p.Ser4158Ile) c.12452G>T (p.Ser4151Ile) c.12446G>T (p.Ser4149Ile) c.12440G>T (p.Ser4147Ile) c.12416G>T (p.Ser4139Ile) c.12239G>T (p.Ser4080Ile) c.12383G>T (p.Ser4128Ile) c.12455G>T (p.Ser4152Ile) | |
1 | g.237784135C>A | CA345413208 | RYR2 | c.*3515C>A (n.*3515C>A) c.12411C>A (p.Ser4137Arg) c.12444C>A (p.Ser4148Arg) c.4600C>A c.12423C>A (p.Ser4141Arg) c.2476C>A c.12375C>A (p.Ser4125Arg) n.3618C>A c.12477C>A (p.Ser4159Arg) c.12474C>A (p.Ser4158Arg) c.12453C>A (p.Ser4151Arg) c.12447C>A (p.Ser4149Arg) c.12441C>A (p.Ser4147Arg) c.12417C>A (p.Ser4139Arg) c.12240C>A (p.Ser4080Arg) c.12384C>A (p.Ser4128Arg) c.12456C>A (p.Ser4152Arg) | |
1 | g.237784135C= | CA2487482395 | RYR2 | c.*3515C= (n.*3515C=) c.12411C= (p.Ser4137=) c.12444C= (p.Ser4148=) c.4600C= c.12423C= (p.Ser4141=) c.2476C= c.12375C= (p.Ser4125=) n.3618C= c.12477C= (p.Ser4159=) c.12474C= (p.Ser4158=) c.12453C= (p.Ser4151=) c.12447C= (p.Ser4149=) c.12441C= (p.Ser4147=) c.12417C= (p.Ser4139=) c.12240C= (p.Ser4080=) c.12384C= (p.Ser4128=) c.12456C= (p.Ser4152=) | |
1 | g.237784135C>G | CA345413210 | RYR2 | c.*3515C>G (n.*3515C>G) c.12411C>G (p.Ser4137Arg) c.12444C>G (p.Ser4148Arg) c.4600C>G c.12423C>G (p.Ser4141Arg) c.2476C>G c.12375C>G (p.Ser4125Arg) n.3618C>G c.12477C>G (p.Ser4159Arg) c.12474C>G (p.Ser4158Arg) c.12453C>G (p.Ser4151Arg) c.12447C>G (p.Ser4149Arg) c.12441C>G (p.Ser4147Arg) c.12417C>G (p.Ser4139Arg) c.12240C>G (p.Ser4080Arg) c.12384C>G (p.Ser4128Arg) c.12456C>G (p.Ser4152Arg) | ClinVar |
1 | g.237784135C>T | CA39827599 | RYR2 | c.*3515C>T (n.*3515C>T) c.12411C>T (p.Ser4137=) c.12444C>T (p.Ser4148=) c.4600C>T c.12423C>T (p.Ser4141=) c.2476C>T c.12375C>T (p.Ser4125=) n.3618C>T c.12477C>T (p.Ser4159=) c.12474C>T (p.Ser4158=) c.12453C>T (p.Ser4151=) c.12447C>T (p.Ser4149=) c.12441C>T (p.Ser4147=) c.12417C>T (p.Ser4139=) c.12240C>T (p.Ser4080=) c.12384C>T (p.Ser4128=) c.12456C>T (p.Ser4152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.237784136G>A | CA085181 | RYR2 | c.*3516G>A (n.*3516G>A) c.12412G>A (p.Ala4138Thr) c.12445G>A (p.Ala4149Thr) c.4601G>A c.12424G>A (p.Ala4142Thr) c.2477G>A c.12376G>A (p.Ala4126Thr) n.3619G>A c.12478G>A (p.Ala4160Thr) c.12475G>A (p.Ala4159Thr) c.12454G>A (p.Ala4152Thr) c.12448G>A (p.Ala4150Thr) c.12442G>A (p.Ala4148Thr) c.12418G>A (p.Ala4140Thr) c.12241G>A (p.Ala4081Thr) c.12385G>A (p.Ala4129Thr) c.12457G>A (p.Ala4153Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784136G>C | CA345413212 | RYR2 | c.*3516G>C (n.*3516G>C) c.12412G>C (p.Ala4138Pro) c.12445G>C (p.Ala4149Pro) c.4601G>C c.12424G>C (p.Ala4142Pro) c.2477G>C c.12376G>C (p.Ala4126Pro) n.3619G>C c.12478G>C (p.Ala4160Pro) c.12475G>C (p.Ala4159Pro) c.12454G>C (p.Ala4152Pro) c.12448G>C (p.Ala4150Pro) c.12442G>C (p.Ala4148Pro) c.12418G>C (p.Ala4140Pro) c.12241G>C (p.Ala4081Pro) c.12385G>C (p.Ala4129Pro) c.12457G>C (p.Ala4153Pro) | ClinVar dbSNP |
1 | g.237784136G= | CA2487482396 | RYR2 | c.*3516G= (n.*3516G=) c.12412G= (p.Ala4138=) c.12445G= (p.Ala4149=) c.4601G= c.12424G= (p.Ala4142=) c.2477G= c.12376G= (p.Ala4126=) n.3619G= c.12478G= (p.Ala4160=) c.12475G= (p.Ala4159=) c.12454G= (p.Ala4152=) c.12448G= (p.Ala4150=) c.12442G= (p.Ala4148=) c.12418G= (p.Ala4140=) c.12241G= (p.Ala4081=) c.12385G= (p.Ala4129=) c.12457G= (p.Ala4153=) | |
1 | g.237784136G>T | CA345413213 | RYR2 | c.*3516G>T (n.*3516G>T) c.12412G>T (p.Ala4138Ser) c.12445G>T (p.Ala4149Ser) c.4601G>T c.12424G>T (p.Ala4142Ser) c.2477G>T c.12376G>T (p.Ala4126Ser) n.3619G>T c.12478G>T (p.Ala4160Ser) c.12475G>T (p.Ala4159Ser) c.12454G>T (p.Ala4152Ser) c.12448G>T (p.Ala4150Ser) c.12442G>T (p.Ala4148Ser) c.12418G>T (p.Ala4140Ser) c.12241G>T (p.Ala4081Ser) c.12385G>T (p.Ala4129Ser) c.12457G>T (p.Ala4153Ser) | |
1 | g.237784137C>A | CA345413217 | RYR2 | c.*3517C>A (n.*3517C>A) c.12413C>A (p.Ala4138Asp) c.12446C>A (p.Ala4149Asp) c.4602C>A c.12425C>A (p.Ala4142Asp) c.2478C>A c.12377C>A (p.Ala4126Asp) n.3620C>A c.12479C>A (p.Ala4160Asp) c.12476C>A (p.Ala4159Asp) c.12455C>A (p.Ala4152Asp) c.12449C>A (p.Ala4150Asp) c.12443C>A (p.Ala4148Asp) c.12419C>A (p.Ala4140Asp) c.12242C>A (p.Ala4081Asp) c.12386C>A (p.Ala4129Asp) c.12458C>A (p.Ala4153Asp) | |
1 | g.237784137C= | CA2487482397 | RYR2 | c.*3517C= (n.*3517C=) c.12413C= (p.Ala4138=) c.12446C= (p.Ala4149=) c.4602C= c.12425C= (p.Ala4142=) c.2478C= c.12377C= (p.Ala4126=) n.3620C= c.12479C= (p.Ala4160=) c.12476C= (p.Ala4159=) c.12455C= (p.Ala4152=) c.12449C= (p.Ala4150=) c.12443C= (p.Ala4148=) c.12419C= (p.Ala4140=) c.12242C= (p.Ala4081=) c.12386C= (p.Ala4129=) c.12458C= (p.Ala4153=) | |
1 | g.237784137C>G | CA345413216 | RYR2 | c.*3517C>G (n.*3517C>G) c.12413C>G (p.Ala4138Gly) c.12446C>G (p.Ala4149Gly) c.4602C>G c.12425C>G (p.Ala4142Gly) c.2478C>G c.12377C>G (p.Ala4126Gly) n.3620C>G c.12479C>G (p.Ala4160Gly) c.12476C>G (p.Ala4159Gly) c.12455C>G (p.Ala4152Gly) c.12449C>G (p.Ala4150Gly) c.12443C>G (p.Ala4148Gly) c.12419C>G (p.Ala4140Gly) c.12242C>G (p.Ala4081Gly) c.12386C>G (p.Ala4129Gly) c.12458C>G (p.Ala4153Gly) | |
1 | g.237784137C>T | CA085182 | RYR2 | c.*3517C>T (n.*3517C>T) c.12413C>T (p.Ala4138Val) c.12446C>T (p.Ala4149Val) c.4602C>T c.12425C>T (p.Ala4142Val) c.2478C>T c.12377C>T (p.Ala4126Val) n.3620C>T c.12479C>T (p.Ala4160Val) c.12476C>T (p.Ala4159Val) c.12455C>T (p.Ala4152Val) c.12449C>T (p.Ala4150Val) c.12443C>T (p.Ala4148Val) c.12419C>T (p.Ala4140Val) c.12242C>T (p.Ala4081Val) c.12386C>T (p.Ala4129Val) c.12458C>T (p.Ala4153Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784138C>A | CA424032170 | RYR2 | c.*3518C>A (n.*3518C>A) c.12414C>A (p.Ala4138=) c.12447C>A (p.Ala4149=) c.4603C>A c.12426C>A (p.Ala4142=) c.2479C>A c.12378C>A (p.Ala4126=) n.3621C>A c.12480C>A (p.Ala4160=) c.12477C>A (p.Ala4159=) c.12456C>A (p.Ala4152=) c.12450C>A (p.Ala4150=) c.12444C>A (p.Ala4148=) c.12420C>A (p.Ala4140=) c.12243C>A (p.Ala4081=) c.12387C>A (p.Ala4129=) c.12459C>A (p.Ala4153=) | |
1 | g.237784138C= | CA2487482398 | RYR2 | c.*3518C= (n.*3518C=) c.12414C= (p.Ala4138=) c.12447C= (p.Ala4149=) c.4603C= c.12426C= (p.Ala4142=) c.2479C= c.12378C= (p.Ala4126=) n.3621C= c.12480C= (p.Ala4160=) c.12477C= (p.Ala4159=) c.12456C= (p.Ala4152=) c.12450C= (p.Ala4150=) c.12444C= (p.Ala4148=) c.12420C= (p.Ala4140=) c.12243C= (p.Ala4081=) c.12387C= (p.Ala4129=) c.12459C= (p.Ala4153=) | |
1 | g.237784138C>G | CA424032173 | RYR2 | c.*3518C>G (n.*3518C>G) c.12414C>G (p.Ala4138=) c.12447C>G (p.Ala4149=) c.4603C>G c.12426C>G (p.Ala4142=) c.2479C>G c.12378C>G (p.Ala4126=) n.3621C>G c.12480C>G (p.Ala4160=) c.12477C>G (p.Ala4159=) c.12456C>G (p.Ala4152=) c.12450C>G (p.Ala4150=) c.12444C>G (p.Ala4148=) c.12420C>G (p.Ala4140=) c.12243C>G (p.Ala4081=) c.12387C>G (p.Ala4129=) c.12459C>G (p.Ala4153=) | ClinVar |
1 | g.237784138C>T | CA424032171 | RYR2 | c.*3518C>T (n.*3518C>T) c.12414C>T (p.Ala4138=) c.12447C>T (p.Ala4149=) c.4603C>T c.12426C>T (p.Ala4142=) c.2479C>T c.12378C>T (p.Ala4126=) n.3621C>T c.12480C>T (p.Ala4160=) c.12477C>T (p.Ala4159=) c.12456C>T (p.Ala4152=) c.12450C>T (p.Ala4150=) c.12444C>T (p.Ala4148=) c.12420C>T (p.Ala4140=) c.12243C>T (p.Ala4081=) c.12387C>T (p.Ala4129=) c.12459C>T (p.Ala4153=) | ClinVar dbSNP |
1 | g.237784139A= | CA2487482399 | RYR2 | c.*3519A= (n.*3519A=) c.12415A= (p.Lys4139=) c.12448A= (p.Lys4150=) c.4604A= c.12427A= (p.Lys4143=) c.2480A= c.12379A= (p.Lys4127=) n.3622A= c.12481A= (p.Lys4161=) c.12478A= (p.Lys4160=) c.12457A= (p.Lys4153=) c.12451A= (p.Lys4151=) c.12445A= (p.Lys4149=) c.12421A= (p.Lys4141=) c.12244A= (p.Lys4082=) c.12388A= (p.Lys4130=) c.12460A= (p.Lys4154=) | |
1 | g.237784139A>C | CA007522 | RYR2 | c.*3519A>C (n.*3519A>C) c.12415A>C (p.Lys4139Gln) c.12448A>C (p.Lys4150Gln) c.4604A>C c.12427A>C (p.Lys4143Gln) c.2480A>C c.12379A>C (p.Lys4127Gln) n.3622A>C c.12481A>C (p.Lys4161Gln) c.12478A>C (p.Lys4160Gln) c.12457A>C (p.Lys4153Gln) c.12451A>C (p.Lys4151Gln) c.12445A>C (p.Lys4149Gln) c.12421A>C (p.Lys4141Gln) c.12244A>C (p.Lys4082Gln) c.12388A>C (p.Lys4130Gln) c.12460A>C (p.Lys4154Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784139A>G | CA085183 | RYR2 | c.*3519A>G (n.*3519A>G) c.12415A>G (p.Lys4139Glu) c.12448A>G (p.Lys4150Glu) c.4604A>G c.12427A>G (p.Lys4143Glu) c.2480A>G c.12379A>G (p.Lys4127Glu) n.3622A>G c.12481A>G (p.Lys4161Glu) c.12478A>G (p.Lys4160Glu) c.12457A>G (p.Lys4153Glu) c.12451A>G (p.Lys4151Glu) c.12445A>G (p.Lys4149Glu) c.12421A>G (p.Lys4141Glu) c.12244A>G (p.Lys4082Glu) c.12388A>G (p.Lys4130Glu) c.12460A>G (p.Lys4154Glu) | dbSNP ExAC gnomAD v2 COSMIC |
1 | g.237784139A>T | CA345413219 | RYR2 | c.*3519A>T (n.*3519A>T) c.12415A>T (p.Lys4139Ter) c.12448A>T (p.Lys4150Ter) c.4604A>T c.12427A>T (p.Lys4143Ter) c.2480A>T c.12379A>T (p.Lys4127Ter) n.3622A>T c.12481A>T (p.Lys4161Ter) c.12478A>T (p.Lys4160Ter) c.12457A>T (p.Lys4153Ter) c.12451A>T (p.Lys4151Ter) c.12445A>T (p.Lys4149Ter) c.12421A>T (p.Lys4141Ter) c.12244A>T (p.Lys4082Ter) c.12388A>T (p.Lys4130Ter) c.12460A>T (p.Lys4154Ter) | dbSNP |
1 | g.237784140A>C | CA345413221 | RYR2 | c.*3520A>C (n.*3520A>C) c.12416A>C (p.Lys4139Thr) c.12449A>C (p.Lys4150Thr) c.4605A>C c.12428A>C (p.Lys4143Thr) c.2481A>C c.12380A>C (p.Lys4127Thr) n.3623A>C c.12482A>C (p.Lys4161Thr) c.12479A>C (p.Lys4160Thr) c.12458A>C (p.Lys4153Thr) c.12452A>C (p.Lys4151Thr) c.12446A>C (p.Lys4149Thr) c.12422A>C (p.Lys4141Thr) c.12245A>C (p.Lys4082Thr) c.12389A>C (p.Lys4130Thr) c.12461A>C (p.Lys4154Thr) | COSMIC COSMIC |
1 | g.237784140A>G | CA345413222 | RYR2 | c.*3520A>G (n.*3520A>G) c.12416A>G (p.Lys4139Arg) c.12449A>G (p.Lys4150Arg) c.4605A>G c.12428A>G (p.Lys4143Arg) c.2481A>G c.12380A>G (p.Lys4127Arg) n.3623A>G c.12482A>G (p.Lys4161Arg) c.12479A>G (p.Lys4160Arg) c.12458A>G (p.Lys4153Arg) c.12452A>G (p.Lys4151Arg) c.12446A>G (p.Lys4149Arg) c.12422A>G (p.Lys4141Arg) c.12245A>G (p.Lys4082Arg) c.12389A>G (p.Lys4130Arg) c.12461A>G (p.Lys4154Arg) | |
1 | g.237784140A>T | CA345413224 | RYR2 | c.*3520A>T (n.*3520A>T) c.12416A>T (p.Lys4139Ile) c.12449A>T (p.Lys4150Ile) c.4605A>T c.12428A>T (p.Lys4143Ile) c.2481A>T c.12380A>T (p.Lys4127Ile) n.3623A>T c.12482A>T (p.Lys4161Ile) c.12479A>T (p.Lys4160Ile) c.12458A>T (p.Lys4153Ile) c.12452A>T (p.Lys4151Ile) c.12446A>T (p.Lys4149Ile) c.12422A>T (p.Lys4141Ile) c.12245A>T (p.Lys4082Ile) c.12389A>T (p.Lys4130Ile) c.12461A>T (p.Lys4154Ile) | |
1 | g.237784142_237784143insACACCCAAC | CA2748280164 | RYR2 | c.*3522_*3523insACACCCAAC (n.*3522_*3523insACACCCAAC) c.12418_12419insACACCCAAC (p.Lys4139_Arg4140insHisThrGln) c.12451_12452insACACCCAAC (p.Lys4150_Arg4151insHisThrGln) c.4607_4608insACACCCAAC c.12430_12431insACACCCAAC (p.Lys4143_Arg4144insHisThrGln) c.2483_2484insACACCCAAC c.12382_12383insACACCCAAC (p.Lys4127_Arg4128insHisThrGln) n.3625_3626insACACCCAAC c.12484_12485insACACCCAAC (p.Lys4161_Arg4162insHisThrGln) c.12481_12482insACACCCAAC (p.Lys4160_Arg4161insHisThrGln) c.12460_12461insACACCCAAC (p.Lys4153_Arg4154insHisThrGln) c.12454_12455insACACCCAAC (p.Lys4151_Arg4152insHisThrGln) c.12448_12449insACACCCAAC (p.Lys4149_Arg4150insHisThrGln) c.12424_12425insACACCCAAC (p.Lys4141_Arg4142insHisThrGln) c.12247_12248insACACCCAAC (p.Lys4082_Arg4083insHisThrGln) c.12391_12392insACACCCAAC (p.Lys4130_Arg4131insHisThrGln) c.12463_12464insACACCCAAC (p.Lys4154_Arg4155insHisThrGln) | |
1 | g.237784141A>C | CA345413225 | RYR2 | c.*3521A>C (n.*3521A>C) c.12417A>C (p.Lys4139Asn) c.12450A>C (p.Lys4150Asn) c.4606A>C c.12429A>C (p.Lys4143Asn) c.2482A>C c.12381A>C (p.Lys4127Asn) n.3624A>C c.12483A>C (p.Lys4161Asn) c.12480A>C (p.Lys4160Asn) c.12459A>C (p.Lys4153Asn) c.12453A>C (p.Lys4151Asn) c.12447A>C (p.Lys4149Asn) c.12423A>C (p.Lys4141Asn) c.12246A>C (p.Lys4082Asn) c.12390A>C (p.Lys4130Asn) c.12462A>C (p.Lys4154Asn) | |
1 | g.237784141A>G | CA424032181 | RYR2 | c.*3521A>G (n.*3521A>G) c.12417A>G (p.Lys4139=) c.12450A>G (p.Lys4150=) c.4606A>G c.12429A>G (p.Lys4143=) c.2482A>G c.12381A>G (p.Lys4127=) n.3624A>G c.12483A>G (p.Lys4161=) c.12480A>G (p.Lys4160=) c.12459A>G (p.Lys4153=) c.12453A>G (p.Lys4151=) c.12447A>G (p.Lys4149=) c.12423A>G (p.Lys4141=) c.12246A>G (p.Lys4082=) c.12390A>G (p.Lys4130=) c.12462A>G (p.Lys4154=) | |
1 | g.237784141A>T | CA345413226 | RYR2 | c.*3521A>T (n.*3521A>T) c.12417A>T (p.Lys4139Asn) c.12450A>T (p.Lys4150Asn) c.4606A>T c.12429A>T (p.Lys4143Asn) c.2482A>T c.12381A>T (p.Lys4127Asn) n.3624A>T c.12483A>T (p.Lys4161Asn) c.12480A>T (p.Lys4160Asn) c.12459A>T (p.Lys4153Asn) c.12453A>T (p.Lys4151Asn) c.12447A>T (p.Lys4149Asn) c.12423A>T (p.Lys4141Asn) c.12246A>T (p.Lys4082Asn) c.12390A>T (p.Lys4130Asn) c.12462A>T (p.Lys4154Asn) | |
1 | g.237784142C>A | CA345413228 | RYR2 | c.*3522C>A (n.*3522C>A) c.12418C>A (p.Arg4140Ser) c.12451C>A (p.Arg4151Ser) c.4607C>A c.12430C>A (p.Arg4144Ser) c.2483C>A c.12382C>A (p.Arg4128Ser) n.3625C>A c.12484C>A (p.Arg4162Ser) c.12481C>A (p.Arg4161Ser) c.12460C>A (p.Arg4154Ser) c.12454C>A (p.Arg4152Ser) c.12448C>A (p.Arg4150Ser) c.12424C>A (p.Arg4142Ser) c.12247C>A (p.Arg4083Ser) c.12391C>A (p.Arg4131Ser) c.12463C>A (p.Arg4155Ser) | |
1 | g.237784142C= | CA2487482400 | RYR2 | c.*3522C= (n.*3522C=) c.12418C= (p.Arg4140=) c.12451C= (p.Arg4151=) c.4607C= c.12430C= (p.Arg4144=) c.2483C= c.12382C= (p.Arg4128=) n.3625C= c.12484C= (p.Arg4162=) c.12481C= (p.Arg4161=) c.12460C= (p.Arg4154=) c.12454C= (p.Arg4152=) c.12448C= (p.Arg4150=) c.12424C= (p.Arg4142=) c.12247C= (p.Arg4083=) c.12391C= (p.Arg4131=) c.12463C= (p.Arg4155=) | |
1 | g.237784142C>G | CA345413229 | RYR2 | c.*3522C>G (n.*3522C>G) c.12418C>G (p.Arg4140Gly) c.12451C>G (p.Arg4151Gly) c.4607C>G c.12430C>G (p.Arg4144Gly) c.2483C>G c.12382C>G (p.Arg4128Gly) n.3625C>G c.12484C>G (p.Arg4162Gly) c.12481C>G (p.Arg4161Gly) c.12460C>G (p.Arg4154Gly) c.12454C>G (p.Arg4152Gly) c.12448C>G (p.Arg4150Gly) c.12424C>G (p.Arg4142Gly) c.12247C>G (p.Arg4083Gly) c.12391C>G (p.Arg4131Gly) c.12463C>G (p.Arg4155Gly) | |
1 | g.237784142C>T | CA345413230 | RYR2 | c.*3522C>T (n.*3522C>T) c.12418C>T (p.Arg4140Cys) c.12451C>T (p.Arg4151Cys) c.4607C>T c.12430C>T (p.Arg4144Cys) c.2483C>T c.12382C>T (p.Arg4128Cys) n.3625C>T c.12484C>T (p.Arg4162Cys) c.12481C>T (p.Arg4161Cys) c.12460C>T (p.Arg4154Cys) c.12454C>T (p.Arg4152Cys) c.12448C>T (p.Arg4150Cys) c.12424C>T (p.Arg4142Cys) c.12247C>T (p.Arg4083Cys) c.12391C>T (p.Arg4131Cys) c.12463C>T (p.Arg4155Cys) | ClinVar dbSNP COSMIC |
1 | g.237784143G>A | CA39827631 | RYR2 | c.*3523G>A (n.*3523G>A) c.12419G>A (p.Arg4140His) c.12452G>A (p.Arg4151His) c.4608G>A c.12431G>A (p.Arg4144His) c.2484G>A c.12383G>A (p.Arg4128His) n.3626G>A c.12485G>A (p.Arg4162His) c.12482G>A (p.Arg4161His) c.12461G>A (p.Arg4154His) c.12455G>A (p.Arg4152His) c.12449G>A (p.Arg4150His) c.12425G>A (p.Arg4142His) c.12248G>A (p.Arg4083His) c.12392G>A (p.Arg4131His) c.12464G>A (p.Arg4155His) | dbSNP gnomAD v4 COSMIC |
1 | g.237784143G>C | CA345413234 | RYR2 | c.*3523G>C (n.*3523G>C) c.12419G>C (p.Arg4140Pro) c.12452G>C (p.Arg4151Pro) c.4608G>C c.12431G>C (p.Arg4144Pro) c.2484G>C c.12383G>C (p.Arg4128Pro) n.3626G>C c.12485G>C (p.Arg4162Pro) c.12482G>C (p.Arg4161Pro) c.12461G>C (p.Arg4154Pro) c.12455G>C (p.Arg4152Pro) c.12449G>C (p.Arg4150Pro) c.12425G>C (p.Arg4142Pro) c.12248G>C (p.Arg4083Pro) c.12392G>C (p.Arg4131Pro) c.12464G>C (p.Arg4155Pro) | gnomAD v4 |
1 | g.237784143G= | CA2487482401 | RYR2 | c.*3523G= (n.*3523G=) c.12419G= (p.Arg4140=) c.12452G= (p.Arg4151=) c.4608G= c.12431G= (p.Arg4144=) c.2484G= c.12383G= (p.Arg4128=) n.3626G= c.12485G= (p.Arg4162=) c.12482G= (p.Arg4161=) c.12461G= (p.Arg4154=) c.12455G= (p.Arg4152=) c.12449G= (p.Arg4150=) c.12425G= (p.Arg4142=) c.12248G= (p.Arg4083=) c.12392G= (p.Arg4131=) c.12464G= (p.Arg4155=) | |
1 | g.237784143G>T | CA345413235 | RYR2 | c.*3523G>T (n.*3523G>T) c.12419G>T (p.Arg4140Leu) c.12452G>T (p.Arg4151Leu) c.4608G>T c.12431G>T (p.Arg4144Leu) c.2484G>T c.12383G>T (p.Arg4128Leu) n.3626G>T c.12485G>T (p.Arg4162Leu) c.12482G>T (p.Arg4161Leu) c.12461G>T (p.Arg4154Leu) c.12455G>T (p.Arg4152Leu) c.12449G>T (p.Arg4150Leu) c.12425G>T (p.Arg4142Leu) c.12248G>T (p.Arg4083Leu) c.12392G>T (p.Arg4131Leu) c.12464G>T (p.Arg4155Leu) | |
1 | g.237784144C>A | CA424032184 | RYR2 | c.*3524C>A (n.*3524C>A) c.12420C>A (p.Arg4140=) c.12453C>A (p.Arg4151=) c.4609C>A c.12432C>A (p.Arg4144=) c.2485C>A c.12384C>A (p.Arg4128=) n.3627C>A c.12486C>A (p.Arg4162=) c.12483C>A (p.Arg4161=) c.12462C>A (p.Arg4154=) c.12456C>A (p.Arg4152=) c.12450C>A (p.Arg4150=) c.12426C>A (p.Arg4142=) c.12249C>A (p.Arg4083=) c.12393C>A (p.Arg4131=) c.12465C>A (p.Arg4155=) | |
1 | g.237784144C>G | CA424032185 | RYR2 | c.*3524C>G (n.*3524C>G) c.12420C>G (p.Arg4140=) c.12453C>G (p.Arg4151=) c.4609C>G c.12432C>G (p.Arg4144=) c.2485C>G c.12384C>G (p.Arg4128=) n.3627C>G c.12486C>G (p.Arg4162=) c.12483C>G (p.Arg4161=) c.12462C>G (p.Arg4154=) c.12456C>G (p.Arg4152=) c.12450C>G (p.Arg4150=) c.12426C>G (p.Arg4142=) c.12249C>G (p.Arg4083=) c.12393C>G (p.Arg4131=) c.12465C>G (p.Arg4155=) | |
1 | g.237784144C>T | CA424032187 | RYR2 | c.*3524C>T (n.*3524C>T) c.12420C>T (p.Arg4140=) c.12453C>T (p.Arg4151=) c.4609C>T c.12432C>T (p.Arg4144=) c.2485C>T c.12384C>T (p.Arg4128=) n.3627C>T c.12486C>T (p.Arg4162=) c.12483C>T (p.Arg4161=) c.12462C>T (p.Arg4154=) c.12456C>T (p.Arg4152=) c.12450C>T (p.Arg4150=) c.12426C>T (p.Arg4142=) c.12249C>T (p.Arg4083=) c.12393C>T (p.Arg4131=) c.12465C>T (p.Arg4155=) | |
1 | g.237784145A>C | CA345413237 | RYR2 | c.*3525A>C (n.*3525A>C) c.12421A>C (p.Ile4141Leu) c.12454A>C (p.Ile4152Leu) c.4610A>C c.12433A>C (p.Ile4145Leu) c.2486A>C c.12385A>C (p.Ile4129Leu) n.3628A>C c.12487A>C (p.Ile4163Leu) c.12484A>C (p.Ile4162Leu) c.12463A>C (p.Ile4155Leu) c.12457A>C (p.Ile4153Leu) c.12451A>C (p.Ile4151Leu) c.12427A>C (p.Ile4143Leu) c.12250A>C (p.Ile4084Leu) c.12394A>C (p.Ile4132Leu) c.12466A>C (p.Ile4156Leu) | |
1 | g.237784145A>G | CA345413239 | RYR2 | c.*3525A>G (n.*3525A>G) c.12421A>G (p.Ile4141Val) c.12454A>G (p.Ile4152Val) c.4610A>G c.12433A>G (p.Ile4145Val) c.2486A>G c.12385A>G (p.Ile4129Val) n.3628A>G c.12487A>G (p.Ile4163Val) c.12484A>G (p.Ile4162Val) c.12463A>G (p.Ile4155Val) c.12457A>G (p.Ile4153Val) c.12451A>G (p.Ile4151Val) c.12427A>G (p.Ile4143Val) c.12250A>G (p.Ile4084Val) c.12394A>G (p.Ile4132Val) c.12466A>G (p.Ile4156Val) | |
1 | g.237784145A>T | CA345413236 | RYR2 | c.*3525A>T (n.*3525A>T) c.12421A>T (p.Ile4141Phe) c.12454A>T (p.Ile4152Phe) c.4610A>T c.12433A>T (p.Ile4145Phe) c.2486A>T c.12385A>T (p.Ile4129Phe) n.3628A>T c.12487A>T (p.Ile4163Phe) c.12484A>T (p.Ile4162Phe) c.12463A>T (p.Ile4155Phe) c.12457A>T (p.Ile4153Phe) c.12451A>T (p.Ile4151Phe) c.12427A>T (p.Ile4143Phe) c.12250A>T (p.Ile4084Phe) c.12394A>T (p.Ile4132Phe) c.12466A>T (p.Ile4156Phe) | |
1 | g.237784146T>A | CA345413240 | RYR2 | c.*3526T>A (n.*3526T>A) c.12422T>A (p.Ile4141Asn) c.12455T>A (p.Ile4152Asn) c.4611T>A c.12434T>A (p.Ile4145Asn) c.2487T>A c.12386T>A (p.Ile4129Asn) n.3629T>A c.12488T>A (p.Ile4163Asn) c.12485T>A (p.Ile4162Asn) c.12464T>A (p.Ile4155Asn) c.12458T>A (p.Ile4153Asn) c.12452T>A (p.Ile4151Asn) c.12428T>A (p.Ile4143Asn) c.12251T>A (p.Ile4084Asn) c.12395T>A (p.Ile4132Asn) c.12467T>A (p.Ile4156Asn) | |
1 | g.237784146T>C | CA345413241 | RYR2 | c.*3526T>C (n.*3526T>C) c.12422T>C (p.Ile4141Thr) c.12455T>C (p.Ile4152Thr) c.4611T>C c.12434T>C (p.Ile4145Thr) c.2487T>C c.12386T>C (p.Ile4129Thr) n.3629T>C c.12488T>C (p.Ile4163Thr) c.12485T>C (p.Ile4162Thr) c.12464T>C (p.Ile4155Thr) c.12458T>C (p.Ile4153Thr) c.12452T>C (p.Ile4151Thr) c.12428T>C (p.Ile4143Thr) c.12251T>C (p.Ile4084Thr) c.12395T>C (p.Ile4132Thr) c.12467T>C (p.Ile4156Thr) | |
1 | g.237784146T>G | CA345413243 | RYR2 | c.*3526T>G (n.*3526T>G) c.12422T>G (p.Ile4141Ser) c.12455T>G (p.Ile4152Ser) c.4611T>G c.12434T>G (p.Ile4145Ser) c.2487T>G c.12386T>G (p.Ile4129Ser) n.3629T>G c.12488T>G (p.Ile4163Ser) c.12485T>G (p.Ile4162Ser) c.12464T>G (p.Ile4155Ser) c.12458T>G (p.Ile4153Ser) c.12452T>G (p.Ile4151Ser) c.12428T>G (p.Ile4143Ser) c.12251T>G (p.Ile4084Ser) c.12395T>G (p.Ile4132Ser) c.12467T>G (p.Ile4156Ser) | |
1 | g.237784147C>A | CA424032191 | RYR2 | c.*3527C>A (n.*3527C>A) c.12423C>A (p.Ile4141=) c.12456C>A (p.Ile4152=) c.4612C>A c.12435C>A (p.Ile4145=) c.2488C>A c.12387C>A (p.Ile4129=) n.3630C>A c.12489C>A (p.Ile4163=) c.12486C>A (p.Ile4162=) c.12465C>A (p.Ile4155=) c.12459C>A (p.Ile4153=) c.12453C>A (p.Ile4151=) c.12429C>A (p.Ile4143=) c.12252C>A (p.Ile4084=) c.12396C>A (p.Ile4132=) c.12468C>A (p.Ile4156=) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784147C= | CA2487482402 | RYR2 | c.*3527C= (n.*3527C=) c.12423C= (p.Ile4141=) c.12456C= (p.Ile4152=) c.4612C= c.12435C= (p.Ile4145=) c.2488C= c.12387C= (p.Ile4129=) n.3630C= c.12489C= (p.Ile4163=) c.12486C= (p.Ile4162=) c.12465C= (p.Ile4155=) c.12459C= (p.Ile4153=) c.12453C= (p.Ile4151=) c.12429C= (p.Ile4143=) c.12252C= (p.Ile4084=) c.12396C= (p.Ile4132=) c.12468C= (p.Ile4156=) | |
1 | g.237784147C>G | CA345413245 | RYR2 | c.*3527C>G (n.*3527C>G) c.12423C>G (p.Ile4141Met) c.12456C>G (p.Ile4152Met) c.4612C>G c.12435C>G (p.Ile4145Met) c.2488C>G c.12387C>G (p.Ile4129Met) n.3630C>G c.12489C>G (p.Ile4163Met) c.12486C>G (p.Ile4162Met) c.12465C>G (p.Ile4155Met) c.12459C>G (p.Ile4153Met) c.12453C>G (p.Ile4151Met) c.12429C>G (p.Ile4143Met) c.12252C>G (p.Ile4084Met) c.12396C>G (p.Ile4132Met) c.12468C>G (p.Ile4156Met) | |
1 | g.237784147C>T | CA39827635 | RYR2 | c.*3527C>T (n.*3527C>T) c.12423C>T (p.Ile4141=) c.12456C>T (p.Ile4152=) c.4612C>T c.12435C>T (p.Ile4145=) c.2488C>T c.12387C>T (p.Ile4129=) n.3630C>T c.12489C>T (p.Ile4163=) c.12486C>T (p.Ile4162=) c.12465C>T (p.Ile4155=) c.12459C>T (p.Ile4153=) c.12453C>T (p.Ile4151=) c.12429C>T (p.Ile4143=) c.12252C>T (p.Ile4084=) c.12396C>T (p.Ile4132=) c.12468C>T (p.Ile4156=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784147_237784149delinsCGA | CA2487482403 | RYR2 | c.*3527_*3529delinsCGA (n.*3527_*3529delinsCGA) c.12423_12425delinsCGA (p.Ile4141=) c.12456_12458delinsCGA (p.Ile4152=) c.4612_4614delinsCGA c.12435_12437delinsCGA (p.Ile4145=) c.2488_2490delinsCGA c.12387_12389delinsCGA (p.Ile4129=) n.3630_3632delinsCGA c.12489_12491delinsCGA (p.Ile4163=) c.12486_12488delinsCGA (p.Ile4162=) c.12465_12467delinsCGA (p.Ile4155=) c.12459_12461delinsCGA (p.Ile4153=) c.12453_12455delinsCGA (p.Ile4151=) c.12429_12431delinsCGA (p.Ile4143=) c.12252_12254delinsCGA (p.Ile4084=) c.12396_12398delinsCGA (p.Ile4132=) c.12468_12470delinsCGA (p.Ile4156=) | |
1 | g.237784148G>A | CA345413247 | RYR2 | c.*3528G>A (n.*3528G>A) c.12424G>A (p.Glu4142Lys) c.12457G>A (p.Glu4153Lys) c.4613G>A c.12436G>A (p.Glu4146Lys) c.2489G>A c.12388G>A (p.Glu4130Lys) n.3631G>A c.12490G>A (p.Glu4164Lys) c.12487G>A (p.Glu4163Lys) c.12466G>A (p.Glu4156Lys) c.12460G>A (p.Glu4154Lys) c.12454G>A (p.Glu4152Lys) c.12430G>A (p.Glu4144Lys) c.12253G>A (p.Glu4085Lys) c.12397G>A (p.Glu4133Lys) c.12469G>A (p.Glu4157Lys) | dbSNP |
1 | g.237784148G>C | CA345413248 | RYR2 | c.*3528G>C (n.*3528G>C) c.12424G>C (p.Glu4142Gln) c.12457G>C (p.Glu4153Gln) c.4613G>C c.12436G>C (p.Glu4146Gln) c.2489G>C c.12388G>C (p.Glu4130Gln) n.3631G>C c.12490G>C (p.Glu4164Gln) c.12487G>C (p.Glu4163Gln) c.12466G>C (p.Glu4156Gln) c.12460G>C (p.Glu4154Gln) c.12454G>C (p.Glu4152Gln) c.12430G>C (p.Glu4144Gln) c.12253G>C (p.Glu4085Gln) c.12397G>C (p.Glu4133Gln) c.12469G>C (p.Glu4157Gln) | |
1 | g.237784148G= | CA2487482404 | RYR2 | c.*3528G= (n.*3528G=) c.12424G= (p.Glu4142=) c.12457G= (p.Glu4153=) c.4613G= c.12436G= (p.Glu4146=) c.2489G= c.12388G= (p.Glu4130=) n.3631G= c.12490G= (p.Glu4164=) c.12487G= (p.Glu4163=) c.12466G= (p.Glu4156=) c.12460G= (p.Glu4154=) c.12454G= (p.Glu4152=) c.12430G= (p.Glu4144=) c.12253G= (p.Glu4085=) c.12397G= (p.Glu4133=) c.12469G= (p.Glu4157=) | |
1 | g.237784148G>T | CA345413250 | RYR2 | c.*3528G>T (n.*3528G>T) c.12424G>T (p.Glu4142Ter) c.12457G>T (p.Glu4153Ter) c.4613G>T c.12436G>T (p.Glu4146Ter) c.2489G>T c.12388G>T (p.Glu4130Ter) n.3631G>T c.12490G>T (p.Glu4164Ter) c.12487G>T (p.Glu4163Ter) c.12466G>T (p.Glu4156Ter) c.12460G>T (p.Glu4154Ter) c.12454G>T (p.Glu4152Ter) c.12430G>T (p.Glu4144Ter) c.12253G>T (p.Glu4085Ter) c.12397G>T (p.Glu4133Ter) c.12469G>T (p.Glu4157Ter) | COSMIC COSMIC |
1 | g.237784151_237784152del | CA1013748110 | RYR2 | c.*3531_*3532del (n.*3531_*3532del) c.12427_12428del (p.Arg4143GlyfsTer4) c.12460_12461del (p.Arg4154GlyfsTer4) c.4616_4617del c.12439_12440del (p.Arg4147GlyfsTer4) c.2492_2493del c.12391_12392del (p.Arg4131GlyfsTer4) n.3634_3635del c.12493_12494del (p.Arg4165GlyfsTer4) c.12490_12491del (p.Arg4164GlyfsTer4) c.12469_12470del (p.Arg4157GlyfsTer4) c.12463_12464del (p.Arg4155GlyfsTer4) c.12457_12458del (p.Arg4153GlyfsTer4) c.12433_12434del (p.Arg4145GlyfsTer4) c.12256_12257del (p.Arg4086GlyfsTer4) c.12400_12401del (p.Arg4134GlyfsTer4) c.12472_12473del (p.Arg4158GlyfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784149A= | CA2487482405 | RYR2 | c.*3529A= (n.*3529A=) c.12425A= (p.Glu4142=) c.12458A= (p.Glu4153=) c.4614A= c.12437A= (p.Glu4146=) c.2490A= c.12389A= (p.Glu4130=) n.3632A= c.12491A= (p.Glu4164=) c.12488A= (p.Glu4163=) c.12467A= (p.Glu4156=) c.12461A= (p.Glu4154=) c.12455A= (p.Glu4152=) c.12431A= (p.Glu4144=) c.12254A= (p.Glu4085=) c.12398A= (p.Glu4133=) c.12470A= (p.Glu4157=) | |
1 | g.237784149A>C | CA345413252 | RYR2 | c.*3529A>C (n.*3529A>C) c.12425A>C (p.Glu4142Ala) c.12458A>C (p.Glu4153Ala) c.4614A>C c.12437A>C (p.Glu4146Ala) c.2490A>C c.12389A>C (p.Glu4130Ala) n.3632A>C c.12491A>C (p.Glu4164Ala) c.12488A>C (p.Glu4163Ala) c.12467A>C (p.Glu4156Ala) c.12461A>C (p.Glu4154Ala) c.12455A>C (p.Glu4152Ala) c.12431A>C (p.Glu4144Ala) c.12254A>C (p.Glu4085Ala) c.12398A>C (p.Glu4133Ala) c.12470A>C (p.Glu4157Ala) | |
1 | g.237784149A>G | CA345413254 | RYR2 | c.*3529A>G (n.*3529A>G) c.12425A>G (p.Glu4142Gly) c.12458A>G (p.Glu4153Gly) c.4614A>G c.12437A>G (p.Glu4146Gly) c.2490A>G c.12389A>G (p.Glu4130Gly) n.3632A>G c.12491A>G (p.Glu4164Gly) c.12488A>G (p.Glu4163Gly) c.12467A>G (p.Glu4156Gly) c.12461A>G (p.Glu4154Gly) c.12455A>G (p.Glu4152Gly) c.12431A>G (p.Glu4144Gly) c.12254A>G (p.Glu4085Gly) c.12398A>G (p.Glu4133Gly) c.12470A>G (p.Glu4157Gly) | ClinVar dbSNP |
1 | g.237784149A>T | CA345413253 | RYR2 | c.*3529A>T (n.*3529A>T) c.12425A>T (p.Glu4142Val) c.12458A>T (p.Glu4153Val) c.4614A>T c.12437A>T (p.Glu4146Val) c.2490A>T c.12389A>T (p.Glu4130Val) n.3632A>T c.12491A>T (p.Glu4164Val) c.12488A>T (p.Glu4163Val) c.12467A>T (p.Glu4156Val) c.12461A>T (p.Glu4154Val) c.12455A>T (p.Glu4152Val) c.12431A>T (p.Glu4144Val) c.12254A>T (p.Glu4085Val) c.12398A>T (p.Glu4133Val) c.12470A>T (p.Glu4157Val) | |
1 | g.237784150G>A | CA424032193 | RYR2 | c.*3530G>A (n.*3530G>A) c.12426G>A (p.Glu4142=) c.12459G>A (p.Glu4153=) c.4615G>A c.12438G>A (p.Glu4146=) c.2491G>A c.12390G>A (p.Glu4130=) n.3633G>A c.12492G>A (p.Glu4164=) c.12489G>A (p.Glu4163=) c.12468G>A (p.Glu4156=) c.12462G>A (p.Glu4154=) c.12456G>A (p.Glu4152=) c.12432G>A (p.Glu4144=) c.12255G>A (p.Glu4085=) c.12399G>A (p.Glu4133=) c.12471G>A (p.Glu4157=) | |
1 | g.237784150G>C | CA204285 | RYR2 | c.*3530G>C (n.*3530G>C) c.12426G>C (p.Glu4142Asp) c.12459G>C (p.Glu4153Asp) c.4615G>C c.12438G>C (p.Glu4146Asp) c.2491G>C c.12390G>C (p.Glu4130Asp) n.3633G>C c.12492G>C (p.Glu4164Asp) c.12489G>C (p.Glu4163Asp) c.12468G>C (p.Glu4156Asp) c.12462G>C (p.Glu4154Asp) c.12456G>C (p.Glu4152Asp) c.12432G>C (p.Glu4144Asp) c.12255G>C (p.Glu4085Asp) c.12399G>C (p.Glu4133Asp) c.12471G>C (p.Glu4157Asp) | ClinVar dbSNP |
1 | g.237784150G= | CA2487482406 | RYR2 | c.*3530G= (n.*3530G=) c.12426G= (p.Glu4142=) c.12459G= (p.Glu4153=) c.4615G= c.12438G= (p.Glu4146=) c.2491G= c.12390G= (p.Glu4130=) n.3633G= c.12492G= (p.Glu4164=) c.12489G= (p.Glu4163=) c.12468G= (p.Glu4156=) c.12462G= (p.Glu4154=) c.12456G= (p.Glu4152=) c.12432G= (p.Glu4144=) c.12255G= (p.Glu4085=) c.12399G= (p.Glu4133=) c.12471G= (p.Glu4157=) | |
1 | g.237784150G>T | CA345413255 | RYR2 | c.*3530G>T (n.*3530G>T) c.12426G>T (p.Glu4142Asp) c.12459G>T (p.Glu4153Asp) c.4615G>T c.12438G>T (p.Glu4146Asp) c.2491G>T c.12390G>T (p.Glu4130Asp) n.3633G>T c.12492G>T (p.Glu4164Asp) c.12489G>T (p.Glu4163Asp) c.12468G>T (p.Glu4156Asp) c.12462G>T (p.Glu4154Asp) c.12456G>T (p.Glu4152Asp) c.12432G>T (p.Glu4144Asp) c.12255G>T (p.Glu4085Asp) c.12399G>T (p.Glu4133Asp) c.12471G>T (p.Glu4157Asp) | |
1 | g.237784151A>C | CA424032194 | RYR2 | c.*3531A>C (n.*3531A>C) c.12427A>C (p.Arg4143=) c.12460A>C (p.Arg4154=) c.4616A>C c.12439A>C (p.Arg4147=) c.2492A>C c.12391A>C (p.Arg4131=) n.3634A>C c.12493A>C (p.Arg4165=) c.12490A>C (p.Arg4164=) c.12469A>C (p.Arg4157=) c.12463A>C (p.Arg4155=) c.12457A>C (p.Arg4153=) c.12433A>C (p.Arg4145=) c.12256A>C (p.Arg4086=) c.12400A>C (p.Arg4134=) c.12472A>C (p.Arg4158=) | |
1 | g.237784151A>G | CA345413256 | RYR2 | c.*3531A>G (n.*3531A>G) c.12427A>G (p.Arg4143Gly) c.12460A>G (p.Arg4154Gly) c.4616A>G c.12439A>G (p.Arg4147Gly) c.2492A>G c.12391A>G (p.Arg4131Gly) n.3634A>G c.12493A>G (p.Arg4165Gly) c.12490A>G (p.Arg4164Gly) c.12469A>G (p.Arg4157Gly) c.12463A>G (p.Arg4155Gly) c.12457A>G (p.Arg4153Gly) c.12433A>G (p.Arg4145Gly) c.12256A>G (p.Arg4086Gly) c.12400A>G (p.Arg4134Gly) c.12472A>G (p.Arg4158Gly) | |
1 | g.237784151A>T | CA345413257 | RYR2 | c.*3531A>T (n.*3531A>T) c.12427A>T (p.Arg4143Trp) c.12460A>T (p.Arg4154Trp) c.4616A>T c.12439A>T (p.Arg4147Trp) c.2492A>T c.12391A>T (p.Arg4131Trp) n.3634A>T c.12493A>T (p.Arg4165Trp) c.12490A>T (p.Arg4164Trp) c.12469A>T (p.Arg4157Trp) c.12463A>T (p.Arg4155Trp) c.12457A>T (p.Arg4153Trp) c.12433A>T (p.Arg4145Trp) c.12256A>T (p.Arg4086Trp) c.12400A>T (p.Arg4134Trp) c.12472A>T (p.Arg4158Trp) | |
1 | g.237784151dup | CA2698436138 | RYR2 | c.*3531dup (n.*3531dup) c.12427dup (p.Arg4143LysfsTer5) c.12460dup (p.Arg4154LysfsTer5) c.4616dup c.12439dup (p.Arg4147LysfsTer5) c.2492dup c.12391dup (p.Arg4131LysfsTer5) n.3634dup c.12493dup (p.Arg4165LysfsTer5) c.12490dup (p.Arg4164LysfsTer5) c.12469dup (p.Arg4157LysfsTer5) c.12463dup (p.Arg4155LysfsTer5) c.12457dup (p.Arg4153LysfsTer5) c.12433dup (p.Arg4145LysfsTer5) c.12256dup (p.Arg4086LysfsTer5) c.12400dup (p.Arg4134LysfsTer5) c.12472dup (p.Arg4158LysfsTer5) | dbSNP |
1 | g.237784152G>A | CA345413259 | RYR2 | c.*3532G>A (n.*3532G>A) c.12428G>A (p.Arg4143Lys) c.12461G>A (p.Arg4154Lys) c.4617G>A c.12440G>A (p.Arg4147Lys) c.2493G>A c.12392G>A (p.Arg4131Lys) n.3635G>A c.12494G>A (p.Arg4165Lys) c.12491G>A (p.Arg4164Lys) c.12470G>A (p.Arg4157Lys) c.12464G>A (p.Arg4155Lys) c.12458G>A (p.Arg4153Lys) c.12434G>A (p.Arg4145Lys) c.12257G>A (p.Arg4086Lys) c.12401G>A (p.Arg4134Lys) c.12473G>A (p.Arg4158Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784152G>C | CA345413262 | RYR2 | c.*3532G>C (n.*3532G>C) c.12428G>C (p.Arg4143Thr) c.12461G>C (p.Arg4154Thr) c.4617G>C c.12440G>C (p.Arg4147Thr) c.2493G>C c.12392G>C (p.Arg4131Thr) n.3635G>C c.12494G>C (p.Arg4165Thr) c.12491G>C (p.Arg4164Thr) c.12470G>C (p.Arg4157Thr) c.12464G>C (p.Arg4155Thr) c.12458G>C (p.Arg4153Thr) c.12434G>C (p.Arg4145Thr) c.12257G>C (p.Arg4086Thr) c.12401G>C (p.Arg4134Thr) c.12473G>C (p.Arg4158Thr) | gnomAD v4 |
1 | g.237784152G= | CA2487482407 | RYR2 | c.*3532G= (n.*3532G=) c.12428G= (p.Arg4143=) c.12461G= (p.Arg4154=) c.4617G= c.12440G= (p.Arg4147=) c.2493G= c.12392G= (p.Arg4131=) n.3635G= c.12494G= (p.Arg4165=) c.12491G= (p.Arg4164=) c.12470G= (p.Arg4157=) c.12464G= (p.Arg4155=) c.12458G= (p.Arg4153=) c.12434G= (p.Arg4145=) c.12257G= (p.Arg4086=) c.12401G= (p.Arg4134=) c.12473G= (p.Arg4158=) | |
1 | g.237784152G>T | CA345413260 | RYR2 | c.*3532G>T (n.*3532G>T) c.12428G>T (p.Arg4143Met) c.12461G>T (p.Arg4154Met) c.4617G>T c.12440G>T (p.Arg4147Met) c.2493G>T c.12392G>T (p.Arg4131Met) n.3635G>T c.12494G>T (p.Arg4165Met) c.12491G>T (p.Arg4164Met) c.12470G>T (p.Arg4157Met) c.12464G>T (p.Arg4155Met) c.12458G>T (p.Arg4153Met) c.12434G>T (p.Arg4145Met) c.12257G>T (p.Arg4086Met) c.12401G>T (p.Arg4134Met) c.12473G>T (p.Arg4158Met) | |
1 | g.237784153G>A | CA424032197 | RYR2 | c.*3533G>A (n.*3533G>A) c.12429G>A (p.Arg4143=) c.12462G>A (p.Arg4154=) c.4618G>A c.12441G>A (p.Arg4147=) c.2494G>A c.12393G>A (p.Arg4131=) n.3636G>A c.12495G>A (p.Arg4165=) c.12492G>A (p.Arg4164=) c.12471G>A (p.Arg4157=) c.12465G>A (p.Arg4155=) c.12459G>A (p.Arg4153=) c.12435G>A (p.Arg4145=) c.12258G>A (p.Arg4086=) c.12402G>A (p.Arg4134=) c.12474G>A (p.Arg4158=) | dbSNP COSMIC COSMIC |
1 | g.237784153G>C | CA345413264 | RYR2 | c.*3533G>C (n.*3533G>C) c.12429G>C (p.Arg4143Ser) c.12462G>C (p.Arg4154Ser) c.4618G>C c.12441G>C (p.Arg4147Ser) c.2494G>C c.12393G>C (p.Arg4131Ser) n.3636G>C c.12495G>C (p.Arg4165Ser) c.12492G>C (p.Arg4164Ser) c.12471G>C (p.Arg4157Ser) c.12465G>C (p.Arg4155Ser) c.12459G>C (p.Arg4153Ser) c.12435G>C (p.Arg4145Ser) c.12258G>C (p.Arg4086Ser) c.12402G>C (p.Arg4134Ser) c.12474G>C (p.Arg4158Ser) | COSMIC COSMIC |
1 | g.237784153G>T | CA345413266 | RYR2 | c.*3533G>T (n.*3533G>T) c.12429G>T (p.Arg4143Ser) c.12462G>T (p.Arg4154Ser) c.4618G>T c.12441G>T (p.Arg4147Ser) c.2494G>T c.12393G>T (p.Arg4131Ser) n.3636G>T c.12495G>T (p.Arg4165Ser) c.12492G>T (p.Arg4164Ser) c.12471G>T (p.Arg4157Ser) c.12465G>T (p.Arg4155Ser) c.12459G>T (p.Arg4153Ser) c.12435G>T (p.Arg4145Ser) c.12258G>T (p.Arg4086Ser) c.12402G>T (p.Arg4134Ser) c.12474G>T (p.Arg4158Ser) | |
1 | g.237784154G>A | CA345413268 | RYR2 | c.*3534G>A (n.*3534G>A) c.12430G>A (p.Val4144Ile) c.12463G>A (p.Val4155Ile) c.4619G>A c.12442G>A (p.Val4148Ile) c.2495G>A c.12394G>A (p.Val4132Ile) n.3637G>A c.12496G>A (p.Val4166Ile) c.12493G>A (p.Val4165Ile) c.12472G>A (p.Val4158Ile) c.12466G>A (p.Val4156Ile) c.12460G>A (p.Val4154Ile) c.12436G>A (p.Val4146Ile) c.12259G>A (p.Val4087Ile) c.12403G>A (p.Val4135Ile) c.12475G>A (p.Val4159Ile) | |
1 | g.237784154G>C | CA345413270 | RYR2 | c.*3534G>C (n.*3534G>C) c.12430G>C (p.Val4144Leu) c.12463G>C (p.Val4155Leu) c.4619G>C c.12442G>C (p.Val4148Leu) c.2495G>C c.12394G>C (p.Val4132Leu) n.3637G>C c.12496G>C (p.Val4166Leu) c.12493G>C (p.Val4165Leu) c.12472G>C (p.Val4158Leu) c.12466G>C (p.Val4156Leu) c.12460G>C (p.Val4154Leu) c.12436G>C (p.Val4146Leu) c.12259G>C (p.Val4087Leu) c.12403G>C (p.Val4135Leu) c.12475G>C (p.Val4159Leu) | |
1 | g.237784154G>T | CA345413271 | RYR2 | c.*3534G>T (n.*3534G>T) c.12430G>T (p.Val4144Phe) c.12463G>T (p.Val4155Phe) c.4619G>T c.12442G>T (p.Val4148Phe) c.2495G>T c.12394G>T (p.Val4132Phe) n.3637G>T c.12496G>T (p.Val4166Phe) c.12493G>T (p.Val4165Phe) c.12472G>T (p.Val4158Phe) c.12466G>T (p.Val4156Phe) c.12460G>T (p.Val4154Phe) c.12436G>T (p.Val4146Phe) c.12259G>T (p.Val4087Phe) c.12403G>T (p.Val4135Phe) c.12475G>T (p.Val4159Phe) | |
1 | g.237784155T>A | CA345413274 | RYR2 | c.*3535T>A (n.*3535T>A) c.12431T>A (p.Val4144Asp) c.12464T>A (p.Val4155Asp) c.4620T>A c.12443T>A (p.Val4148Asp) c.2496T>A c.12395T>A (p.Val4132Asp) n.3638T>A c.12497T>A (p.Val4166Asp) c.12494T>A (p.Val4165Asp) c.12473T>A (p.Val4158Asp) c.12467T>A (p.Val4156Asp) c.12461T>A (p.Val4154Asp) c.12437T>A (p.Val4146Asp) c.12260T>A (p.Val4087Asp) c.12404T>A (p.Val4135Asp) c.12476T>A (p.Val4159Asp) | |
1 | g.237784155T>C | CA345413279 | RYR2 | c.*3535T>C (n.*3535T>C) c.12431T>C (p.Val4144Ala) c.12464T>C (p.Val4155Ala) c.4620T>C c.12443T>C (p.Val4148Ala) c.2496T>C c.12395T>C (p.Val4132Ala) n.3638T>C c.12497T>C (p.Val4166Ala) c.12494T>C (p.Val4165Ala) c.12473T>C (p.Val4158Ala) c.12467T>C (p.Val4156Ala) c.12461T>C (p.Val4154Ala) c.12437T>C (p.Val4146Ala) c.12260T>C (p.Val4087Ala) c.12404T>C (p.Val4135Ala) c.12476T>C (p.Val4159Ala) | |
1 | g.237784155T>G | CA345413280 | RYR2 | c.*3535T>G (n.*3535T>G) c.12431T>G (p.Val4144Gly) c.12464T>G (p.Val4155Gly) c.4620T>G c.12443T>G (p.Val4148Gly) c.2496T>G c.12395T>G (p.Val4132Gly) n.3638T>G c.12497T>G (p.Val4166Gly) c.12494T>G (p.Val4165Gly) c.12473T>G (p.Val4158Gly) c.12467T>G (p.Val4156Gly) c.12461T>G (p.Val4154Gly) c.12437T>G (p.Val4146Gly) c.12260T>G (p.Val4087Gly) c.12404T>G (p.Val4135Gly) c.12476T>G (p.Val4159Gly) | |
1 | g.237784156C>A | CA424032199 | RYR2 | c.*3536C>A (n.*3536C>A) c.12432C>A (p.Val4144=) c.12465C>A (p.Val4155=) c.4621C>A c.12444C>A (p.Val4148=) c.2497C>A c.12396C>A (p.Val4132=) n.3639C>A c.12498C>A (p.Val4166=) c.12495C>A (p.Val4165=) c.12474C>A (p.Val4158=) c.12468C>A (p.Val4156=) c.12462C>A (p.Val4154=) c.12438C>A (p.Val4146=) c.12261C>A (p.Val4087=) c.12405C>A (p.Val4135=) c.12477C>A (p.Val4159=) | COSMIC COSMIC |
1 | g.237784156C>G | CA424032200 | RYR2 | c.*3536C>G (n.*3536C>G) c.12432C>G (p.Val4144=) c.12465C>G (p.Val4155=) c.4621C>G c.12444C>G (p.Val4148=) c.2497C>G c.12396C>G (p.Val4132=) n.3639C>G c.12498C>G (p.Val4166=) c.12495C>G (p.Val4165=) c.12474C>G (p.Val4158=) c.12468C>G (p.Val4156=) c.12462C>G (p.Val4154=) c.12438C>G (p.Val4146=) c.12261C>G (p.Val4087=) c.12405C>G (p.Val4135=) c.12477C>G (p.Val4159=) | |
1 | g.237784156C>T | CA424032201 | RYR2 | c.*3536C>T (n.*3536C>T) c.12432C>T (p.Val4144=) c.12465C>T (p.Val4155=) c.4621C>T c.12444C>T (p.Val4148=) c.2497C>T c.12396C>T (p.Val4132=) n.3639C>T c.12498C>T (p.Val4166=) c.12495C>T (p.Val4165=) c.12474C>T (p.Val4158=) c.12468C>T (p.Val4156=) c.12462C>T (p.Val4154=) c.12438C>T (p.Val4146=) c.12261C>T (p.Val4087=) c.12405C>T (p.Val4135=) c.12477C>T (p.Val4159=) | gnomAD v4 |
1 | g.237784157T>A | CA345413281 | RYR2 | c.*3537T>A (n.*3537T>A) c.12433T>A (p.Tyr4145Asn) c.12466T>A (p.Tyr4156Asn) c.4622T>A c.12445T>A (p.Tyr4149Asn) c.2498T>A c.12397T>A (p.Tyr4133Asn) n.3640T>A c.12499T>A (p.Tyr4167Asn) c.12496T>A (p.Tyr4166Asn) c.12475T>A (p.Tyr4159Asn) c.12469T>A (p.Tyr4157Asn) c.12463T>A (p.Tyr4155Asn) c.12439T>A (p.Tyr4147Asn) c.12262T>A (p.Tyr4088Asn) c.12406T>A (p.Tyr4136Asn) c.12478T>A (p.Tyr4160Asn) | |
1 | g.237784157T>C | CA345413282 | RYR2 | c.*3537T>C (n.*3537T>C) c.12433T>C (p.Tyr4145His) c.12466T>C (p.Tyr4156His) c.4622T>C c.12445T>C (p.Tyr4149His) c.2498T>C c.12397T>C (p.Tyr4133His) n.3640T>C c.12499T>C (p.Tyr4167His) c.12496T>C (p.Tyr4166His) c.12475T>C (p.Tyr4159His) c.12469T>C (p.Tyr4157His) c.12463T>C (p.Tyr4155His) c.12439T>C (p.Tyr4147His) c.12262T>C (p.Tyr4088His) c.12406T>C (p.Tyr4136His) c.12478T>C (p.Tyr4160His) | |
1 | g.237784157T>G | CA345413283 | RYR2 | c.*3537T>G (n.*3537T>G) c.12433T>G (p.Tyr4145Asp) c.12466T>G (p.Tyr4156Asp) c.4622T>G c.12445T>G (p.Tyr4149Asp) c.2498T>G c.12397T>G (p.Tyr4133Asp) n.3640T>G c.12499T>G (p.Tyr4167Asp) c.12496T>G (p.Tyr4166Asp) c.12475T>G (p.Tyr4159Asp) c.12469T>G (p.Tyr4157Asp) c.12463T>G (p.Tyr4155Asp) c.12439T>G (p.Tyr4147Asp) c.12262T>G (p.Tyr4088Asp) c.12406T>G (p.Tyr4136Asp) c.12478T>G (p.Tyr4160Asp) | |
1 | g.237784158A= | CA2487482408 | RYR2 | c.*3538A= (n.*3538A=) c.12434A= (p.Tyr4145=) c.12467A= (p.Tyr4156=) c.4623A= c.12446A= (p.Tyr4149=) c.2499A= c.12398A= (p.Tyr4133=) n.3641A= c.12500A= (p.Tyr4167=) c.12497A= (p.Tyr4166=) c.12476A= (p.Tyr4159=) c.12470A= (p.Tyr4157=) c.12464A= (p.Tyr4155=) c.12440A= (p.Tyr4147=) c.12263A= (p.Tyr4088=) c.12407A= (p.Tyr4136=) c.12479A= (p.Tyr4160=) | |
1 | g.237784158A>C | CA345413284 | RYR2 | c.*3538A>C (n.*3538A>C) c.12434A>C (p.Tyr4145Ser) c.12467A>C (p.Tyr4156Ser) c.4623A>C c.12446A>C (p.Tyr4149Ser) c.2499A>C c.12398A>C (p.Tyr4133Ser) n.3641A>C c.12500A>C (p.Tyr4167Ser) c.12497A>C (p.Tyr4166Ser) c.12476A>C (p.Tyr4159Ser) c.12470A>C (p.Tyr4157Ser) c.12464A>C (p.Tyr4155Ser) c.12440A>C (p.Tyr4147Ser) c.12263A>C (p.Tyr4088Ser) c.12407A>C (p.Tyr4136Ser) c.12479A>C (p.Tyr4160Ser) | |
1 | g.237784158A>G | CA345413286 | RYR2 | c.*3538A>G (n.*3538A>G) c.12434A>G (p.Tyr4145Cys) c.12467A>G (p.Tyr4156Cys) c.4623A>G c.12446A>G (p.Tyr4149Cys) c.2499A>G c.12398A>G (p.Tyr4133Cys) n.3641A>G c.12500A>G (p.Tyr4167Cys) c.12497A>G (p.Tyr4166Cys) c.12476A>G (p.Tyr4159Cys) c.12470A>G (p.Tyr4157Cys) c.12464A>G (p.Tyr4155Cys) c.12440A>G (p.Tyr4147Cys) c.12263A>G (p.Tyr4088Cys) c.12407A>G (p.Tyr4136Cys) c.12479A>G (p.Tyr4160Cys) | ClinVar dbSNP |
1 | g.237784158A>T | CA345413285 | RYR2 | c.*3538A>T (n.*3538A>T) c.12434A>T (p.Tyr4145Phe) c.12467A>T (p.Tyr4156Phe) c.4623A>T c.12446A>T (p.Tyr4149Phe) c.2499A>T c.12398A>T (p.Tyr4133Phe) n.3641A>T c.12500A>T (p.Tyr4167Phe) c.12497A>T (p.Tyr4166Phe) c.12476A>T (p.Tyr4159Phe) c.12470A>T (p.Tyr4157Phe) c.12464A>T (p.Tyr4155Phe) c.12440A>T (p.Tyr4147Phe) c.12263A>T (p.Tyr4088Phe) c.12407A>T (p.Tyr4136Phe) c.12479A>T (p.Tyr4160Phe) | |
1 | g.237784159T>A | CA345413287 | RYR2 | c.*3539T>A (n.*3539T>A) c.12435T>A (p.Tyr4145Ter) c.12468T>A (p.Tyr4156Ter) c.4624T>A c.12447T>A (p.Tyr4149Ter) c.2500T>A c.12399T>A (p.Tyr4133Ter) n.3642T>A c.12501T>A (p.Tyr4167Ter) c.12498T>A (p.Tyr4166Ter) c.12477T>A (p.Tyr4159Ter) c.12471T>A (p.Tyr4157Ter) c.12465T>A (p.Tyr4155Ter) c.12441T>A (p.Tyr4147Ter) c.12264T>A (p.Tyr4088Ter) c.12408T>A (p.Tyr4136Ter) c.12480T>A (p.Tyr4160Ter) | |
1 | g.237784159T>C | CA424032204 | RYR2 | c.*3539T>C (n.*3539T>C) c.12435T>C (p.Tyr4145=) c.12468T>C (p.Tyr4156=) c.4624T>C c.12447T>C (p.Tyr4149=) c.2500T>C c.12399T>C (p.Tyr4133=) n.3642T>C c.12501T>C (p.Tyr4167=) c.12498T>C (p.Tyr4166=) c.12477T>C (p.Tyr4159=) c.12471T>C (p.Tyr4157=) c.12465T>C (p.Tyr4155=) c.12441T>C (p.Tyr4147=) c.12264T>C (p.Tyr4088=) c.12408T>C (p.Tyr4136=) c.12480T>C (p.Tyr4160=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784159T>G | CA345413288 | RYR2 | c.*3539T>G (n.*3539T>G) c.12435T>G (p.Tyr4145Ter) c.12468T>G (p.Tyr4156Ter) c.4624T>G c.12447T>G (p.Tyr4149Ter) c.2500T>G c.12399T>G (p.Tyr4133Ter) n.3642T>G c.12501T>G (p.Tyr4167Ter) c.12498T>G (p.Tyr4166Ter) c.12477T>G (p.Tyr4159Ter) c.12471T>G (p.Tyr4157Ter) c.12465T>G (p.Tyr4155Ter) c.12441T>G (p.Tyr4147Ter) c.12264T>G (p.Tyr4088Ter) c.12408T>G (p.Tyr4136Ter) c.12480T>G (p.Tyr4160Ter) | |
1 | g.237784160T>A | CA345413291 | RYR2 | c.*3540T>A (n.*3540T>A) c.12436T>A (p.Phe4146Ile) c.12469T>A (p.Phe4157Ile) c.4625T>A c.12448T>A (p.Phe4150Ile) c.2501T>A c.12400T>A (p.Phe4134Ile) n.3643T>A c.12502T>A (p.Phe4168Ile) c.12499T>A (p.Phe4167Ile) c.12478T>A (p.Phe4160Ile) c.12472T>A (p.Phe4158Ile) c.12466T>A (p.Phe4156Ile) c.12442T>A (p.Phe4148Ile) c.12265T>A (p.Phe4089Ile) c.12409T>A (p.Phe4137Ile) c.12481T>A (p.Phe4161Ile) | |
1 | g.237784160T>C | CA345413293 | RYR2 | c.*3540T>C (n.*3540T>C) c.12436T>C (p.Phe4146Leu) c.12469T>C (p.Phe4157Leu) c.4625T>C c.12448T>C (p.Phe4150Leu) c.2501T>C c.12400T>C (p.Phe4134Leu) n.3643T>C c.12502T>C (p.Phe4168Leu) c.12499T>C (p.Phe4167Leu) c.12478T>C (p.Phe4160Leu) c.12472T>C (p.Phe4158Leu) c.12466T>C (p.Phe4156Leu) c.12442T>C (p.Phe4148Leu) c.12265T>C (p.Phe4089Leu) c.12409T>C (p.Phe4137Leu) c.12481T>C (p.Phe4161Leu) | gnomAD v4 |
1 | g.237784160T>G | CA345413295 | RYR2 | c.*3540T>G (n.*3540T>G) c.12436T>G (p.Phe4146Val) c.12469T>G (p.Phe4157Val) c.4625T>G c.12448T>G (p.Phe4150Val) c.2501T>G c.12400T>G (p.Phe4134Val) n.3643T>G c.12502T>G (p.Phe4168Val) c.12499T>G (p.Phe4167Val) c.12478T>G (p.Phe4160Val) c.12472T>G (p.Phe4158Val) c.12466T>G (p.Phe4156Val) c.12442T>G (p.Phe4148Val) c.12265T>G (p.Phe4089Val) c.12409T>G (p.Phe4137Val) c.12481T>G (p.Phe4161Val) | |
1 | g.237784161T>A | CA345413297 | RYR2 | c.*3541T>A (n.*3541T>A) c.12437T>A (p.Phe4146Tyr) c.12470T>A (p.Phe4157Tyr) c.4626T>A c.12449T>A (p.Phe4150Tyr) c.2502T>A c.12401T>A (p.Phe4134Tyr) n.3644T>A c.12503T>A (p.Phe4168Tyr) c.12500T>A (p.Phe4167Tyr) c.12479T>A (p.Phe4160Tyr) c.12473T>A (p.Phe4158Tyr) c.12467T>A (p.Phe4156Tyr) c.12443T>A (p.Phe4148Tyr) c.12266T>A (p.Phe4089Tyr) c.12410T>A (p.Phe4137Tyr) c.12482T>A (p.Phe4161Tyr) | |
1 | g.237784161T>C | CA345413298 | RYR2 | c.*3541T>C (n.*3541T>C) c.12437T>C (p.Phe4146Ser) c.12470T>C (p.Phe4157Ser) c.4626T>C c.12449T>C (p.Phe4150Ser) c.2502T>C c.12401T>C (p.Phe4134Ser) n.3644T>C c.12503T>C (p.Phe4168Ser) c.12500T>C (p.Phe4167Ser) c.12479T>C (p.Phe4160Ser) c.12473T>C (p.Phe4158Ser) c.12467T>C (p.Phe4156Ser) c.12443T>C (p.Phe4148Ser) c.12266T>C (p.Phe4089Ser) c.12410T>C (p.Phe4137Ser) c.12482T>C (p.Phe4161Ser) | |
1 | g.237784161T>G | CA345413300 | RYR2 | c.*3541T>G (n.*3541T>G) c.12437T>G (p.Phe4146Cys) c.12470T>G (p.Phe4157Cys) c.4626T>G c.12449T>G (p.Phe4150Cys) c.2502T>G c.12401T>G (p.Phe4134Cys) n.3644T>G c.12503T>G (p.Phe4168Cys) c.12500T>G (p.Phe4167Cys) c.12479T>G (p.Phe4160Cys) c.12473T>G (p.Phe4158Cys) c.12467T>G (p.Phe4156Cys) c.12443T>G (p.Phe4148Cys) c.12266T>G (p.Phe4089Cys) c.12410T>G (p.Phe4137Cys) c.12482T>G (p.Phe4161Cys) | |
1 | g.237784162T>A | CA345413302 | RYR2 | c.*3542T>A (n.*3542T>A) c.12438T>A (p.Phe4146Leu) c.12471T>A (p.Phe4157Leu) c.4627T>A c.12450T>A (p.Phe4150Leu) c.2503T>A c.12402T>A (p.Phe4134Leu) n.3645T>A c.12504T>A (p.Phe4168Leu) c.12501T>A (p.Phe4167Leu) c.12480T>A (p.Phe4160Leu) c.12474T>A (p.Phe4158Leu) c.12468T>A (p.Phe4156Leu) c.12444T>A (p.Phe4148Leu) c.12267T>A (p.Phe4089Leu) c.12411T>A (p.Phe4137Leu) c.12483T>A (p.Phe4161Leu) | |
1 | g.237784162T>C | CA424032206 | RYR2 | c.*3542T>C (n.*3542T>C) c.12438T>C (p.Phe4146=) c.12471T>C (p.Phe4157=) c.4627T>C c.12450T>C (p.Phe4150=) c.2503T>C c.12402T>C (p.Phe4134=) n.3645T>C c.12504T>C (p.Phe4168=) c.12501T>C (p.Phe4167=) c.12480T>C (p.Phe4160=) c.12474T>C (p.Phe4158=) c.12468T>C (p.Phe4156=) c.12444T>C (p.Phe4148=) c.12267T>C (p.Phe4089=) c.12411T>C (p.Phe4137=) c.12483T>C (p.Phe4161=) | |
1 | g.237784162T>G | CA345413304 | RYR2 | c.*3542T>G (n.*3542T>G) c.12438T>G (p.Phe4146Leu) c.12471T>G (p.Phe4157Leu) c.4627T>G c.12450T>G (p.Phe4150Leu) c.2503T>G c.12402T>G (p.Phe4134Leu) n.3645T>G c.12504T>G (p.Phe4168Leu) c.12501T>G (p.Phe4167Leu) c.12480T>G (p.Phe4160Leu) c.12474T>G (p.Phe4158Leu) c.12468T>G (p.Phe4156Leu) c.12444T>G (p.Phe4148Leu) c.12267T>G (p.Phe4089Leu) c.12411T>G (p.Phe4137Leu) c.12483T>G (p.Phe4161Leu) | |
1 | g.237784163G>A | CA345413307 | RYR2 | c.*3543G>A (n.*3543G>A) c.12439G>A (p.Glu4147Lys) c.12472G>A (p.Glu4158Lys) c.4628G>A c.12451G>A (p.Glu4151Lys) c.2504G>A c.12403G>A (p.Glu4135Lys) n.3646G>A c.12505G>A (p.Glu4169Lys) c.12502G>A (p.Glu4168Lys) c.12481G>A (p.Glu4161Lys) c.12475G>A (p.Glu4159Lys) c.12469G>A (p.Glu4157Lys) c.12445G>A (p.Glu4149Lys) c.12268G>A (p.Glu4090Lys) c.12412G>A (p.Glu4138Lys) c.12484G>A (p.Glu4162Lys) | |
1 | g.237784163G>C | CA345413308 | RYR2 | c.*3543G>C (n.*3543G>C) c.12439G>C (p.Glu4147Gln) c.12472G>C (p.Glu4158Gln) c.4628G>C c.12451G>C (p.Glu4151Gln) c.2504G>C c.12403G>C (p.Glu4135Gln) n.3646G>C c.12505G>C (p.Glu4169Gln) c.12502G>C (p.Glu4168Gln) c.12481G>C (p.Glu4161Gln) c.12475G>C (p.Glu4159Gln) c.12469G>C (p.Glu4157Gln) c.12445G>C (p.Glu4149Gln) c.12268G>C (p.Glu4090Gln) c.12412G>C (p.Glu4138Gln) c.12484G>C (p.Glu4162Gln) | |
1 | g.237784163G>T | CA345413309 | RYR2 | c.*3543G>T (n.*3543G>T) c.12439G>T (p.Glu4147Ter) c.12472G>T (p.Glu4158Ter) c.4628G>T c.12451G>T (p.Glu4151Ter) c.2504G>T c.12403G>T (p.Glu4135Ter) n.3646G>T c.12505G>T (p.Glu4169Ter) c.12502G>T (p.Glu4168Ter) c.12481G>T (p.Glu4161Ter) c.12475G>T (p.Glu4159Ter) c.12469G>T (p.Glu4157Ter) c.12445G>T (p.Glu4149Ter) c.12268G>T (p.Glu4090Ter) c.12412G>T (p.Glu4138Ter) c.12484G>T (p.Glu4162Ter) | gnomAD v4 |
1 | g.237784163_237784164delinsGA | CA2487482409 | RYR2 | c.*3543_*3544delinsGA (n.*3543_*3544delinsGA) c.12439_12440delinsGA (p.Glu4147=) c.12472_12473delinsGA (p.Glu4158=) c.4628_4629delinsGA c.12451_12452delinsGA (p.Glu4151=) c.2504_2505delinsGA c.12403_12404delinsGA (p.Glu4135=) n.3646_3647delinsGA c.12505_12506delinsGA (p.Glu4169=) c.12502_12503delinsGA (p.Glu4168=) c.12481_12482delinsGA (p.Glu4161=) c.12475_12476delinsGA (p.Glu4159=) c.12469_12470delinsGA (p.Glu4157=) c.12445_12446delinsGA (p.Glu4149=) c.12268_12269delinsGA (p.Glu4090=) c.12412_12413delinsGA (p.Glu4138=) c.12484_12485delinsGA (p.Glu4162=) | |
1 | g.237784164A>C | CA345413313 | RYR2 | c.*3544A>C (n.*3544A>C) c.12440A>C (p.Glu4147Ala) c.12473A>C (p.Glu4158Ala) c.4629A>C c.12452A>C (p.Glu4151Ala) c.2505A>C c.12404A>C (p.Glu4135Ala) n.3647A>C c.12506A>C (p.Glu4169Ala) c.12503A>C (p.Glu4168Ala) c.12482A>C (p.Glu4161Ala) c.12476A>C (p.Glu4159Ala) c.12470A>C (p.Glu4157Ala) c.12446A>C (p.Glu4149Ala) c.12269A>C (p.Glu4090Ala) c.12413A>C (p.Glu4138Ala) c.12485A>C (p.Glu4162Ala) | |
1 | g.237784164A>G | CA345413311 | RYR2 | c.*3544A>G (n.*3544A>G) c.12440A>G (p.Glu4147Gly) c.12473A>G (p.Glu4158Gly) c.4629A>G c.12452A>G (p.Glu4151Gly) c.2505A>G c.12404A>G (p.Glu4135Gly) n.3647A>G c.12506A>G (p.Glu4169Gly) c.12503A>G (p.Glu4168Gly) c.12482A>G (p.Glu4161Gly) c.12476A>G (p.Glu4159Gly) c.12470A>G (p.Glu4157Gly) c.12446A>G (p.Glu4149Gly) c.12269A>G (p.Glu4090Gly) c.12413A>G (p.Glu4138Gly) c.12485A>G (p.Glu4162Gly) | |
1 | g.237784164A>T | CA345413310 | RYR2 | c.*3544A>T (n.*3544A>T) c.12440A>T (p.Glu4147Val) c.12473A>T (p.Glu4158Val) c.4629A>T c.12452A>T (p.Glu4151Val) c.2505A>T c.12404A>T (p.Glu4135Val) n.3647A>T c.12506A>T (p.Glu4169Val) c.12503A>T (p.Glu4168Val) c.12482A>T (p.Glu4161Val) c.12476A>T (p.Glu4159Val) c.12470A>T (p.Glu4157Val) c.12446A>T (p.Glu4149Val) c.12269A>T (p.Glu4090Val) c.12413A>T (p.Glu4138Val) c.12485A>T (p.Glu4162Val) | |
1 | g.237784166del | CA2487482410 | RYR2 | c.*3546del (n.*3546del) c.12442del (p.Ile4148SerfsTer?) c.12475del (p.Ile4159SerfsTer?) c.4631del c.12454del (p.Ile4152SerfsTer?) c.2507del c.12406del (p.Ile4136SerfsTer?) n.3649del c.12508del (p.Ile4170SerfsTer?) c.12505del (p.Ile4169SerfsTer?) c.12484del (p.Ile4162SerfsTer?) c.12478del (p.Ile4160SerfsTer?) c.12472del (p.Ile4158SerfsTer?) c.12448del (p.Ile4150SerfsTer?) c.12271del (p.Ile4091SerfsTer?) c.12415del (p.Ile4139SerfsTer?) c.12487del (p.Ile4163SerfsTer?) | dbSNP |
1 | g.237784165A>C | CA345413315 | RYR2 | c.*3545A>C (n.*3545A>C) c.12441A>C (p.Glu4147Asp) c.12474A>C (p.Glu4158Asp) c.4630A>C c.12453A>C (p.Glu4151Asp) c.2506A>C c.12405A>C (p.Glu4135Asp) n.3648A>C c.12507A>C (p.Glu4169Asp) c.12504A>C (p.Glu4168Asp) c.12483A>C (p.Glu4161Asp) c.12477A>C (p.Glu4159Asp) c.12471A>C (p.Glu4157Asp) c.12447A>C (p.Glu4149Asp) c.12270A>C (p.Glu4090Asp) c.12414A>C (p.Glu4138Asp) c.12486A>C (p.Glu4162Asp) | |
1 | g.237784165A>G | CA424032207 | RYR2 | c.*3545A>G (n.*3545A>G) c.12441A>G (p.Glu4147=) c.12474A>G (p.Glu4158=) c.4630A>G c.12453A>G (p.Glu4151=) c.2506A>G c.12405A>G (p.Glu4135=) n.3648A>G c.12507A>G (p.Glu4169=) c.12504A>G (p.Glu4168=) c.12483A>G (p.Glu4161=) c.12477A>G (p.Glu4159=) c.12471A>G (p.Glu4157=) c.12447A>G (p.Glu4149=) c.12270A>G (p.Glu4090=) c.12414A>G (p.Glu4138=) c.12486A>G (p.Glu4162=) | |
1 | g.237784165A>T | CA345413317 | RYR2 | c.*3545A>T (n.*3545A>T) c.12441A>T (p.Glu4147Asp) c.12474A>T (p.Glu4158Asp) c.4630A>T c.12453A>T (p.Glu4151Asp) c.2506A>T c.12405A>T (p.Glu4135Asp) n.3648A>T c.12507A>T (p.Glu4169Asp) c.12504A>T (p.Glu4168Asp) c.12483A>T (p.Glu4161Asp) c.12477A>T (p.Glu4159Asp) c.12471A>T (p.Glu4157Asp) c.12447A>T (p.Glu4149Asp) c.12270A>T (p.Glu4090Asp) c.12414A>T (p.Glu4138Asp) c.12486A>T (p.Glu4162Asp) | |
1 | g.237784166A>C | CA345413320 | RYR2 | c.*3546A>C (n.*3546A>C) c.12442A>C (p.Ile4148Leu) c.12475A>C (p.Ile4159Leu) c.4631A>C c.12454A>C (p.Ile4152Leu) c.2507A>C c.12406A>C (p.Ile4136Leu) n.3649A>C c.12508A>C (p.Ile4170Leu) c.12505A>C (p.Ile4169Leu) c.12484A>C (p.Ile4162Leu) c.12478A>C (p.Ile4160Leu) c.12472A>C (p.Ile4158Leu) c.12448A>C (p.Ile4150Leu) c.12271A>C (p.Ile4091Leu) c.12415A>C (p.Ile4139Leu) c.12487A>C (p.Ile4163Leu) | ClinVar dbSNP |
1 | g.237784166A>G | CA345413321 | RYR2 | c.*3546A>G (n.*3546A>G) c.12442A>G (p.Ile4148Val) c.12475A>G (p.Ile4159Val) c.4631A>G c.12454A>G (p.Ile4152Val) c.2507A>G c.12406A>G (p.Ile4136Val) n.3649A>G c.12508A>G (p.Ile4170Val) c.12505A>G (p.Ile4169Val) c.12484A>G (p.Ile4162Val) c.12478A>G (p.Ile4160Val) c.12472A>G (p.Ile4158Val) c.12448A>G (p.Ile4150Val) c.12271A>G (p.Ile4091Val) c.12415A>G (p.Ile4139Val) c.12487A>G (p.Ile4163Val) | gnomAD v4 |
1 | g.237784166A>T | CA345413322 | RYR2 | c.*3546A>T (n.*3546A>T) c.12442A>T (p.Ile4148Phe) c.12475A>T (p.Ile4159Phe) c.4631A>T c.12454A>T (p.Ile4152Phe) c.2507A>T c.12406A>T (p.Ile4136Phe) n.3649A>T c.12508A>T (p.Ile4170Phe) c.12505A>T (p.Ile4169Phe) c.12484A>T (p.Ile4162Phe) c.12478A>T (p.Ile4160Phe) c.12472A>T (p.Ile4158Phe) c.12448A>T (p.Ile4150Phe) c.12271A>T (p.Ile4091Phe) c.12415A>T (p.Ile4139Phe) c.12487A>T (p.Ile4163Phe) | |
1 | g.237784167T>A | CA345413323 | RYR2 | c.*3547T>A (n.*3547T>A) c.12443T>A (p.Ile4148Asn) c.12476T>A (p.Ile4159Asn) c.4632T>A c.12455T>A (p.Ile4152Asn) c.2508T>A c.12407T>A (p.Ile4136Asn) n.3650T>A c.12509T>A (p.Ile4170Asn) c.12506T>A (p.Ile4169Asn) c.12485T>A (p.Ile4162Asn) c.12479T>A (p.Ile4160Asn) c.12473T>A (p.Ile4158Asn) c.12449T>A (p.Ile4150Asn) c.12272T>A (p.Ile4091Asn) c.12416T>A (p.Ile4139Asn) c.12488T>A (p.Ile4163Asn) | ClinVar dbSNP |
1 | g.237784167T>C | CA345413324 | RYR2 | c.*3547T>C (n.*3547T>C) c.12443T>C (p.Ile4148Thr) c.12476T>C (p.Ile4159Thr) c.4632T>C c.12455T>C (p.Ile4152Thr) c.2508T>C c.12407T>C (p.Ile4136Thr) n.3650T>C c.12509T>C (p.Ile4170Thr) c.12506T>C (p.Ile4169Thr) c.12485T>C (p.Ile4162Thr) c.12479T>C (p.Ile4160Thr) c.12473T>C (p.Ile4158Thr) c.12449T>C (p.Ile4150Thr) c.12272T>C (p.Ile4091Thr) c.12416T>C (p.Ile4139Thr) c.12488T>C (p.Ile4163Thr) | |
1 | g.237784167T>G | CA345413326 | RYR2 | c.*3547T>G (n.*3547T>G) c.12443T>G (p.Ile4148Ser) c.12476T>G (p.Ile4159Ser) c.4632T>G c.12455T>G (p.Ile4152Ser) c.2508T>G c.12407T>G (p.Ile4136Ser) n.3650T>G c.12509T>G (p.Ile4170Ser) c.12506T>G (p.Ile4169Ser) c.12485T>G (p.Ile4162Ser) c.12479T>G (p.Ile4160Ser) c.12473T>G (p.Ile4158Ser) c.12449T>G (p.Ile4150Ser) c.12272T>G (p.Ile4091Ser) c.12416T>G (p.Ile4139Ser) c.12488T>G (p.Ile4163Ser) | |
1 | g.237784167T= | CA2487482411 | RYR2 | c.*3547T= (n.*3547T=) c.12443T= (p.Ile4148=) c.12476T= (p.Ile4159=) c.4632T= c.12455T= (p.Ile4152=) c.2508T= c.12407T= (p.Ile4136=) n.3650T= c.12509T= (p.Ile4170=) c.12506T= (p.Ile4169=) c.12485T= (p.Ile4162=) c.12479T= (p.Ile4160=) c.12473T= (p.Ile4158=) c.12449T= (p.Ile4150=) c.12272T= (p.Ile4091=) c.12416T= (p.Ile4139=) c.12488T= (p.Ile4163=) | |
1 | g.237784168C>A | CA424032211 | RYR2 | c.*3548C>A (n.*3548C>A) c.12444C>A (p.Ile4148=) c.12477C>A (p.Ile4159=) c.4633C>A c.12456C>A (p.Ile4152=) c.2509C>A c.12408C>A (p.Ile4136=) n.3651C>A c.12510C>A (p.Ile4170=) c.12507C>A (p.Ile4169=) c.12486C>A (p.Ile4162=) c.12480C>A (p.Ile4160=) c.12474C>A (p.Ile4158=) c.12450C>A (p.Ile4150=) c.12273C>A (p.Ile4091=) c.12417C>A (p.Ile4139=) c.12489C>A (p.Ile4163=) | COSMIC COSMIC |
1 | g.237784168C>G | CA345413329 | RYR2 | c.*3548C>G (n.*3548C>G) c.12444C>G (p.Ile4148Met) c.12477C>G (p.Ile4159Met) c.4633C>G c.12456C>G (p.Ile4152Met) c.2509C>G c.12408C>G (p.Ile4136Met) n.3651C>G c.12510C>G (p.Ile4170Met) c.12507C>G (p.Ile4169Met) c.12486C>G (p.Ile4162Met) c.12480C>G (p.Ile4160Met) c.12474C>G (p.Ile4158Met) c.12450C>G (p.Ile4150Met) c.12273C>G (p.Ile4091Met) c.12417C>G (p.Ile4139Met) c.12489C>G (p.Ile4163Met) | |
1 | g.237784168C>T | CA424032212 | RYR2 | c.*3548C>T (n.*3548C>T) c.12444C>T (p.Ile4148=) c.12477C>T (p.Ile4159=) c.4633C>T c.12456C>T (p.Ile4152=) c.2509C>T c.12408C>T (p.Ile4136=) n.3651C>T c.12510C>T (p.Ile4170=) c.12507C>T (p.Ile4169=) c.12486C>T (p.Ile4162=) c.12480C>T (p.Ile4160=) c.12474C>T (p.Ile4158=) c.12450C>T (p.Ile4150=) c.12273C>T (p.Ile4091=) c.12417C>T (p.Ile4139=) c.12489C>T (p.Ile4163=) | ClinVar COSMIC COSMIC |
1 | g.237784169A= | CA2487482412 | RYR2 | c.*3549A= (n.*3549A=) c.12445A= (p.Ser4149=) c.12478A= (p.Ser4160=) c.4634A= c.12457A= (p.Ser4153=) c.2510A= c.12409A= (p.Ser4137=) n.3652A= c.12511A= (p.Ser4171=) c.12508A= (p.Ser4170=) c.12487A= (p.Ser4163=) c.12481A= (p.Ser4161=) c.12475A= (p.Ser4159=) c.12451A= (p.Ser4151=) c.12274A= (p.Ser4092=) c.12418A= (p.Ser4140=) c.12490A= (p.Ser4164=) | |
1 | g.237784169A>C | CA345413330 | RYR2 | c.*3549A>C (n.*3549A>C) c.12445A>C (p.Ser4149Arg) c.12478A>C (p.Ser4160Arg) c.4634A>C c.12457A>C (p.Ser4153Arg) c.2510A>C c.12409A>C (p.Ser4137Arg) n.3652A>C c.12511A>C (p.Ser4171Arg) c.12508A>C (p.Ser4170Arg) c.12487A>C (p.Ser4163Arg) c.12481A>C (p.Ser4161Arg) c.12475A>C (p.Ser4159Arg) c.12451A>C (p.Ser4151Arg) c.12274A>C (p.Ser4092Arg) c.12418A>C (p.Ser4140Arg) c.12490A>C (p.Ser4164Arg) | dbSNP gnomAD v4 |
1 | g.237784169A>G | CA345413335 | RYR2 | c.*3549A>G (n.*3549A>G) c.12445A>G (p.Ser4149Gly) c.12478A>G (p.Ser4160Gly) c.4634A>G c.12457A>G (p.Ser4153Gly) c.2510A>G c.12409A>G (p.Ser4137Gly) n.3652A>G c.12511A>G (p.Ser4171Gly) c.12508A>G (p.Ser4170Gly) c.12487A>G (p.Ser4163Gly) c.12481A>G (p.Ser4161Gly) c.12475A>G (p.Ser4159Gly) c.12451A>G (p.Ser4151Gly) c.12274A>G (p.Ser4092Gly) c.12418A>G (p.Ser4140Gly) c.12490A>G (p.Ser4164Gly) | |
1 | g.237784169A>T | CA345413337 | RYR2 | c.*3549A>T (n.*3549A>T) c.12445A>T (p.Ser4149Cys) c.12478A>T (p.Ser4160Cys) c.4634A>T c.12457A>T (p.Ser4153Cys) c.2510A>T c.12409A>T (p.Ser4137Cys) n.3652A>T c.12511A>T (p.Ser4171Cys) c.12508A>T (p.Ser4170Cys) c.12487A>T (p.Ser4163Cys) c.12481A>T (p.Ser4161Cys) c.12475A>T (p.Ser4159Cys) c.12451A>T (p.Ser4151Cys) c.12274A>T (p.Ser4092Cys) c.12418A>T (p.Ser4140Cys) c.12490A>T (p.Ser4164Cys) | |
1 | g.237784170G>A | CA345413342 | RYR2 | c.*3550G>A (n.*3550G>A) c.12446G>A (p.Ser4149Asn) c.12479G>A (p.Ser4160Asn) c.4635G>A c.12458G>A (p.Ser4153Asn) c.2511G>A c.12410G>A (p.Ser4137Asn) n.3653G>A c.12512G>A (p.Ser4171Asn) c.12509G>A (p.Ser4170Asn) c.12488G>A (p.Ser4163Asn) c.12482G>A (p.Ser4161Asn) c.12476G>A (p.Ser4159Asn) c.12452G>A (p.Ser4151Asn) c.12275G>A (p.Ser4092Asn) c.12419G>A (p.Ser4140Asn) c.12491G>A (p.Ser4164Asn) | dbSNP COSMIC COSMIC |
1 | g.237784170G>C | CA39827643 | RYR2 | c.*3550G>C (n.*3550G>C) c.12446G>C (p.Ser4149Thr) c.12479G>C (p.Ser4160Thr) c.4635G>C c.12458G>C (p.Ser4153Thr) c.2511G>C c.12410G>C (p.Ser4137Thr) n.3653G>C c.12512G>C (p.Ser4171Thr) c.12509G>C (p.Ser4170Thr) c.12488G>C (p.Ser4163Thr) c.12482G>C (p.Ser4161Thr) c.12476G>C (p.Ser4159Thr) c.12452G>C (p.Ser4151Thr) c.12275G>C (p.Ser4092Thr) c.12419G>C (p.Ser4140Thr) c.12491G>C (p.Ser4164Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.237784170G= | CA2487482413 | RYR2 | c.*3550G= (n.*3550G=) c.12446G= (p.Ser4149=) c.12479G= (p.Ser4160=) c.4635G= c.12458G= (p.Ser4153=) c.2511G= c.12410G= (p.Ser4137=) n.3653G= c.12512G= (p.Ser4171=) c.12509G= (p.Ser4170=) c.12488G= (p.Ser4163=) c.12482G= (p.Ser4161=) c.12476G= (p.Ser4159=) c.12452G= (p.Ser4151=) c.12275G= (p.Ser4092=) c.12419G= (p.Ser4140=) c.12491G= (p.Ser4164=) | |
1 | g.237784170G>T | CA345413339 | RYR2 | c.*3550G>T (n.*3550G>T) c.12446G>T (p.Ser4149Ile) c.12479G>T (p.Ser4160Ile) c.4635G>T c.12458G>T (p.Ser4153Ile) c.2511G>T c.12410G>T (p.Ser4137Ile) n.3653G>T c.12512G>T (p.Ser4171Ile) c.12509G>T (p.Ser4170Ile) c.12488G>T (p.Ser4163Ile) c.12482G>T (p.Ser4161Ile) c.12476G>T (p.Ser4159Ile) c.12452G>T (p.Ser4151Ile) c.12275G>T (p.Ser4092Ile) c.12419G>T (p.Ser4140Ile) c.12491G>T (p.Ser4164Ile) | ClinVar dbSNP COSMIC |
1 | g.237784171T>A | CA345413344 | RYR2 | c.*3551T>A (n.*3551T>A) c.12447T>A (p.Ser4149Arg) c.12480T>A (p.Ser4160Arg) c.4636T>A c.12459T>A (p.Ser4153Arg) c.2512T>A c.12411T>A (p.Ser4137Arg) n.3654T>A c.12513T>A (p.Ser4171Arg) c.12510T>A (p.Ser4170Arg) c.12489T>A (p.Ser4163Arg) c.12483T>A (p.Ser4161Arg) c.12477T>A (p.Ser4159Arg) c.12453T>A (p.Ser4151Arg) c.12276T>A (p.Ser4092Arg) c.12420T>A (p.Ser4140Arg) c.12492T>A (p.Ser4164Arg) | |
1 | g.237784171T>C | CA424032213 | RYR2 | c.*3551T>C (n.*3551T>C) c.12447T>C (p.Ser4149=) c.12480T>C (p.Ser4160=) c.4636T>C c.12459T>C (p.Ser4153=) c.2512T>C c.12411T>C (p.Ser4137=) n.3654T>C c.12513T>C (p.Ser4171=) c.12510T>C (p.Ser4170=) c.12489T>C (p.Ser4163=) c.12483T>C (p.Ser4161=) c.12477T>C (p.Ser4159=) c.12453T>C (p.Ser4151=) c.12276T>C (p.Ser4092=) c.12420T>C (p.Ser4140=) c.12492T>C (p.Ser4164=) | |
1 | g.237784171T>G | CA345413345 | RYR2 | c.*3551T>G (n.*3551T>G) c.12447T>G (p.Ser4149Arg) c.12480T>G (p.Ser4160Arg) c.4636T>G c.12459T>G (p.Ser4153Arg) c.2512T>G c.12411T>G (p.Ser4137Arg) n.3654T>G c.12513T>G (p.Ser4171Arg) c.12510T>G (p.Ser4170Arg) c.12489T>G (p.Ser4163Arg) c.12483T>G (p.Ser4161Arg) c.12477T>G (p.Ser4159Arg) c.12453T>G (p.Ser4151Arg) c.12276T>G (p.Ser4092Arg) c.12420T>G (p.Ser4140Arg) c.12492T>G (p.Ser4164Arg) | |
1 | g.237784172G>A | CA345413347 | RYR2 | c.*3552G>A (n.*3552G>A) c.12448G>A (p.Glu4150Lys) c.12481G>A (p.Glu4161Lys) c.4637G>A c.12460G>A (p.Glu4154Lys) c.2513G>A c.12412G>A (p.Glu4138Lys) n.3655G>A c.12514G>A (p.Glu4172Lys) c.12511G>A (p.Glu4171Lys) c.12490G>A (p.Glu4164Lys) c.12484G>A (p.Glu4162Lys) c.12478G>A (p.Glu4160Lys) c.12454G>A (p.Glu4152Lys) c.12277G>A (p.Glu4093Lys) c.12421G>A (p.Glu4141Lys) c.12493G>A (p.Glu4165Lys) | |
1 | g.237784172G>C | CA345413350 | RYR2 | c.*3552G>C (n.*3552G>C) c.12448G>C (p.Glu4150Gln) c.12481G>C (p.Glu4161Gln) c.4637G>C c.12460G>C (p.Glu4154Gln) c.2513G>C c.12412G>C (p.Glu4138Gln) n.3655G>C c.12514G>C (p.Glu4172Gln) c.12511G>C (p.Glu4171Gln) c.12490G>C (p.Glu4164Gln) c.12484G>C (p.Glu4162Gln) c.12478G>C (p.Glu4160Gln) c.12454G>C (p.Glu4152Gln) c.12277G>C (p.Glu4093Gln) c.12421G>C (p.Glu4141Gln) c.12493G>C (p.Glu4165Gln) | |
1 | g.237784172G>T | CA345413351 | RYR2 | c.*3552G>T (n.*3552G>T) c.12448G>T (p.Glu4150Ter) c.12481G>T (p.Glu4161Ter) c.4637G>T c.12460G>T (p.Glu4154Ter) c.2513G>T c.12412G>T (p.Glu4138Ter) n.3655G>T c.12514G>T (p.Glu4172Ter) c.12511G>T (p.Glu4171Ter) c.12490G>T (p.Glu4164Ter) c.12484G>T (p.Glu4162Ter) c.12478G>T (p.Glu4160Ter) c.12454G>T (p.Glu4152Ter) c.12277G>T (p.Glu4093Ter) c.12421G>T (p.Glu4141Ter) c.12493G>T (p.Glu4165Ter) | |
1 | g.237784173A>C | CA345413361 | RYR2 | c.*3553A>C (n.*3553A>C) c.12449A>C (p.Glu4150Ala) c.12482A>C (p.Glu4161Ala) c.4638A>C c.12461A>C (p.Glu4154Ala) c.2514A>C c.12413A>C (p.Glu4138Ala) n.3656A>C c.12515A>C (p.Glu4172Ala) c.12512A>C (p.Glu4171Ala) c.12491A>C (p.Glu4164Ala) c.12485A>C (p.Glu4162Ala) c.12479A>C (p.Glu4160Ala) c.12455A>C (p.Glu4152Ala) c.12278A>C (p.Glu4093Ala) c.12422A>C (p.Glu4141Ala) c.12494A>C (p.Glu4165Ala) | |
1 | g.237784173A>G | CA345413357 | RYR2 | c.*3553A>G (n.*3553A>G) c.12449A>G (p.Glu4150Gly) c.12482A>G (p.Glu4161Gly) c.4638A>G c.12461A>G (p.Glu4154Gly) c.2514A>G c.12413A>G (p.Glu4138Gly) n.3656A>G c.12515A>G (p.Glu4172Gly) c.12512A>G (p.Glu4171Gly) c.12491A>G (p.Glu4164Gly) c.12485A>G (p.Glu4162Gly) c.12479A>G (p.Glu4160Gly) c.12455A>G (p.Glu4152Gly) c.12278A>G (p.Glu4093Gly) c.12422A>G (p.Glu4141Gly) c.12494A>G (p.Glu4165Gly) | |
1 | g.237784173A>T | CA345413355 | RYR2 | c.*3553A>T (n.*3553A>T) c.12449A>T (p.Glu4150Val) c.12482A>T (p.Glu4161Val) c.4638A>T c.12461A>T (p.Glu4154Val) c.2514A>T c.12413A>T (p.Glu4138Val) n.3656A>T c.12515A>T (p.Glu4172Val) c.12512A>T (p.Glu4171Val) c.12491A>T (p.Glu4164Val) c.12485A>T (p.Glu4162Val) c.12479A>T (p.Glu4160Val) c.12455A>T (p.Glu4152Val) c.12278A>T (p.Glu4093Val) c.12422A>T (p.Glu4141Val) c.12494A>T (p.Glu4165Val) | |
1 | g.237784174G>A | CA085185 | RYR2 | c.*3554G>A (n.*3554G>A) c.12450G>A (p.Glu4150=) c.12483G>A (p.Glu4161=) c.4639G>A c.12462G>A (p.Glu4154=) c.2515G>A c.12414G>A (p.Glu4138=) n.3657G>A c.12516G>A (p.Glu4172=) c.12513G>A (p.Glu4171=) c.12492G>A (p.Glu4164=) c.12486G>A (p.Glu4162=) c.12480G>A (p.Glu4160=) c.12456G>A (p.Glu4152=) c.12279G>A (p.Glu4093=) c.12423G>A (p.Glu4141=) c.12495G>A (p.Glu4165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784174G>C | CA345413364 | RYR2 | c.*3554G>C (n.*3554G>C) c.12450G>C (p.Glu4150Asp) c.12483G>C (p.Glu4161Asp) c.4639G>C c.12462G>C (p.Glu4154Asp) c.2515G>C c.12414G>C (p.Glu4138Asp) n.3657G>C c.12516G>C (p.Glu4172Asp) c.12513G>C (p.Glu4171Asp) c.12492G>C (p.Glu4164Asp) c.12486G>C (p.Glu4162Asp) c.12480G>C (p.Glu4160Asp) c.12456G>C (p.Glu4152Asp) c.12279G>C (p.Glu4093Asp) c.12423G>C (p.Glu4141Asp) c.12495G>C (p.Glu4165Asp) | |
1 | g.237784174G= | CA2487482414 | RYR2 | c.*3554G= (n.*3554G=) c.12450G= (p.Glu4150=) c.12483G= (p.Glu4161=) c.4639G= c.12462G= (p.Glu4154=) c.2515G= c.12414G= (p.Glu4138=) n.3657G= c.12516G= (p.Glu4172=) c.12513G= (p.Glu4171=) c.12492G= (p.Glu4164=) c.12486G= (p.Glu4162=) c.12480G= (p.Glu4160=) c.12456G= (p.Glu4152=) c.12279G= (p.Glu4093=) c.12423G= (p.Glu4141=) c.12495G= (p.Glu4165=) | |
1 | g.237784174G>T | CA345413365 | RYR2 | c.*3554G>T (n.*3554G>T) c.12450G>T (p.Glu4150Asp) c.12483G>T (p.Glu4161Asp) c.4639G>T c.12462G>T (p.Glu4154Asp) c.2515G>T c.12414G>T (p.Glu4138Asp) n.3657G>T c.12516G>T (p.Glu4172Asp) c.12513G>T (p.Glu4171Asp) c.12492G>T (p.Glu4164Asp) c.12486G>T (p.Glu4162Asp) c.12480G>T (p.Glu4160Asp) c.12456G>T (p.Glu4152Asp) c.12279G>T (p.Glu4093Asp) c.12423G>T (p.Glu4141Asp) c.12495G>T (p.Glu4165Asp) | |
1 | g.237784175T>A | CA16610026 | RYR2 | c.*3555T>A (n.*3555T>A) c.12451T>A (p.Ser4151Thr) c.12484T>A (p.Ser4162Thr) c.4640T>A c.12463T>A (p.Ser4155Thr) c.2516T>A c.12415T>A (p.Ser4139Thr) n.3658T>A c.12517T>A (p.Ser4173Thr) c.12514T>A (p.Ser4172Thr) c.12493T>A (p.Ser4165Thr) c.12487T>A (p.Ser4163Thr) c.12481T>A (p.Ser4161Thr) c.12457T>A (p.Ser4153Thr) c.12280T>A (p.Ser4094Thr) c.12424T>A (p.Ser4142Thr) c.12496T>A (p.Ser4166Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784175T>C | CA345413368 | RYR2 | c.*3555T>C (n.*3555T>C) c.12451T>C (p.Ser4151Pro) c.12484T>C (p.Ser4162Pro) c.4640T>C c.12463T>C (p.Ser4155Pro) c.2516T>C c.12415T>C (p.Ser4139Pro) n.3658T>C c.12517T>C (p.Ser4173Pro) c.12514T>C (p.Ser4172Pro) c.12493T>C (p.Ser4165Pro) c.12487T>C (p.Ser4163Pro) c.12481T>C (p.Ser4161Pro) c.12457T>C (p.Ser4153Pro) c.12280T>C (p.Ser4094Pro) c.12424T>C (p.Ser4142Pro) c.12496T>C (p.Ser4166Pro) | dbSNP |
1 | g.237784175T>G | CA345413373 | RYR2 | c.*3555T>G (n.*3555T>G) c.12451T>G (p.Ser4151Ala) c.12484T>G (p.Ser4162Ala) c.4640T>G c.12463T>G (p.Ser4155Ala) c.2516T>G c.12415T>G (p.Ser4139Ala) n.3658T>G c.12517T>G (p.Ser4173Ala) c.12514T>G (p.Ser4172Ala) c.12493T>G (p.Ser4165Ala) c.12487T>G (p.Ser4163Ala) c.12481T>G (p.Ser4161Ala) c.12457T>G (p.Ser4153Ala) c.12280T>G (p.Ser4094Ala) c.12424T>G (p.Ser4142Ala) c.12496T>G (p.Ser4166Ala) | |
1 | g.237784175T= | CA2487482415 | RYR2 | c.*3555T= (n.*3555T=) c.12451T= (p.Ser4151=) c.12484T= (p.Ser4162=) c.4640T= c.12463T= (p.Ser4155=) c.2516T= c.12415T= (p.Ser4139=) n.3658T= c.12517T= (p.Ser4173=) c.12514T= (p.Ser4172=) c.12493T= (p.Ser4165=) c.12487T= (p.Ser4163=) c.12481T= (p.Ser4161=) c.12457T= (p.Ser4153=) c.12280T= (p.Ser4094=) c.12424T= (p.Ser4142=) c.12496T= (p.Ser4166=) | |
1 | g.237784176C>A | CA345413376 | RYR2 | c.*3556C>A (n.*3556C>A) c.12452C>A (p.Ser4151Tyr) c.12485C>A (p.Ser4162Tyr) c.4641C>A c.12464C>A (p.Ser4155Tyr) c.2517C>A c.12416C>A (p.Ser4139Tyr) n.3659C>A c.12518C>A (p.Ser4173Tyr) c.12515C>A (p.Ser4172Tyr) c.12494C>A (p.Ser4165Tyr) c.12488C>A (p.Ser4163Tyr) c.12482C>A (p.Ser4161Tyr) c.12458C>A (p.Ser4153Tyr) c.12281C>A (p.Ser4094Tyr) c.12425C>A (p.Ser4142Tyr) c.12497C>A (p.Ser4166Tyr) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784176C>G | CA345413381 | RYR2 | c.*3556C>G (n.*3556C>G) c.12452C>G (p.Ser4151Cys) c.12485C>G (p.Ser4162Cys) c.4641C>G c.12464C>G (p.Ser4155Cys) c.2517C>G c.12416C>G (p.Ser4139Cys) n.3659C>G c.12518C>G (p.Ser4173Cys) c.12515C>G (p.Ser4172Cys) c.12494C>G (p.Ser4165Cys) c.12488C>G (p.Ser4163Cys) c.12482C>G (p.Ser4161Cys) c.12458C>G (p.Ser4153Cys) c.12281C>G (p.Ser4094Cys) c.12425C>G (p.Ser4142Cys) c.12497C>G (p.Ser4166Cys) | |
1 | g.237784176C>T | CA345413378 | RYR2 | c.*3556C>T (n.*3556C>T) c.12452C>T (p.Ser4151Phe) c.12485C>T (p.Ser4162Phe) c.4641C>T c.12464C>T (p.Ser4155Phe) c.2517C>T c.12416C>T (p.Ser4139Phe) n.3659C>T c.12518C>T (p.Ser4173Phe) c.12515C>T (p.Ser4172Phe) c.12494C>T (p.Ser4165Phe) c.12488C>T (p.Ser4163Phe) c.12482C>T (p.Ser4161Phe) c.12458C>T (p.Ser4153Phe) c.12281C>T (p.Ser4094Phe) c.12425C>T (p.Ser4142Phe) c.12497C>T (p.Ser4166Phe) | |
1 | g.237784177C>A | CA424032218 | RYR2 | c.*3557C>A (n.*3557C>A) c.12453C>A (p.Ser4151=) c.12486C>A (p.Ser4162=) c.4642C>A c.12465C>A (p.Ser4155=) c.2518C>A c.12417C>A (p.Ser4139=) n.3660C>A c.12519C>A (p.Ser4173=) c.12516C>A (p.Ser4172=) c.12495C>A (p.Ser4165=) c.12489C>A (p.Ser4163=) c.12483C>A (p.Ser4161=) c.12459C>A (p.Ser4153=) c.12282C>A (p.Ser4094=) c.12426C>A (p.Ser4142=) c.12498C>A (p.Ser4166=) | |
1 | g.237784177C>G | CA424032219 | RYR2 | c.*3557C>G (n.*3557C>G) c.12453C>G (p.Ser4151=) c.12486C>G (p.Ser4162=) c.4642C>G c.12465C>G (p.Ser4155=) c.2518C>G c.12417C>G (p.Ser4139=) n.3660C>G c.12519C>G (p.Ser4173=) c.12516C>G (p.Ser4172=) c.12495C>G (p.Ser4165=) c.12489C>G (p.Ser4163=) c.12483C>G (p.Ser4161=) c.12459C>G (p.Ser4153=) c.12282C>G (p.Ser4094=) c.12426C>G (p.Ser4142=) c.12498C>G (p.Ser4166=) | |
1 | g.237784177C>T | CA424032220 | RYR2 | c.*3557C>T (n.*3557C>T) c.12453C>T (p.Ser4151=) c.12486C>T (p.Ser4162=) c.4642C>T c.12465C>T (p.Ser4155=) c.2518C>T c.12417C>T (p.Ser4139=) n.3660C>T c.12519C>T (p.Ser4173=) c.12516C>T (p.Ser4172=) c.12495C>T (p.Ser4165=) c.12489C>T (p.Ser4163=) c.12483C>T (p.Ser4161=) c.12459C>T (p.Ser4153=) c.12282C>T (p.Ser4094=) c.12426C>T (p.Ser4142=) c.12498C>T (p.Ser4166=) | gnomAD v4 |
1 | g.237784178A>C | CA345413383 | RYR2 | c.*3558A>C (n.*3558A>C) c.12454A>C (p.Ser4152Arg) c.12487A>C (p.Ser4163Arg) c.4643A>C c.12466A>C (p.Ser4156Arg) c.2519A>C c.12418A>C (p.Ser4140Arg) n.3661A>C c.12520A>C (p.Ser4174Arg) c.12517A>C (p.Ser4173Arg) c.12496A>C (p.Ser4166Arg) c.12490A>C (p.Ser4164Arg) c.12484A>C (p.Ser4162Arg) c.12460A>C (p.Ser4154Arg) c.12283A>C (p.Ser4095Arg) c.12427A>C (p.Ser4143Arg) c.12499A>C (p.Ser4167Arg) | COSMIC COSMIC |
1 | g.237784178A>G | CA345413388 | RYR2 | c.*3558A>G (n.*3558A>G) c.12454A>G (p.Ser4152Gly) c.12487A>G (p.Ser4163Gly) c.4643A>G c.12466A>G (p.Ser4156Gly) c.2519A>G c.12418A>G (p.Ser4140Gly) n.3661A>G c.12520A>G (p.Ser4174Gly) c.12517A>G (p.Ser4173Gly) c.12496A>G (p.Ser4166Gly) c.12490A>G (p.Ser4164Gly) c.12484A>G (p.Ser4162Gly) c.12460A>G (p.Ser4154Gly) c.12283A>G (p.Ser4095Gly) c.12427A>G (p.Ser4143Gly) c.12499A>G (p.Ser4167Gly) | |
1 | g.237784178A>T | CA345413390 | RYR2 | c.*3558A>T (n.*3558A>T) c.12454A>T (p.Ser4152Cys) c.12487A>T (p.Ser4163Cys) c.4643A>T c.12466A>T (p.Ser4156Cys) c.2519A>T c.12418A>T (p.Ser4140Cys) n.3661A>T c.12520A>T (p.Ser4174Cys) c.12517A>T (p.Ser4173Cys) c.12496A>T (p.Ser4166Cys) c.12490A>T (p.Ser4164Cys) c.12484A>T (p.Ser4162Cys) c.12460A>T (p.Ser4154Cys) c.12283A>T (p.Ser4095Cys) c.12427A>T (p.Ser4143Cys) c.12499A>T (p.Ser4167Cys) | |
1 | g.237784179G>A | CA345413393 | RYR2 | c.*3559G>A (n.*3559G>A) c.12455G>A (p.Ser4152Asn) c.12488G>A (p.Ser4163Asn) c.4644G>A c.12467G>A (p.Ser4156Asn) c.2520G>A c.12419G>A (p.Ser4140Asn) n.3662G>A c.12521G>A (p.Ser4174Asn) c.12518G>A (p.Ser4173Asn) c.12497G>A (p.Ser4166Asn) c.12491G>A (p.Ser4164Asn) c.12485G>A (p.Ser4162Asn) c.12461G>A (p.Ser4154Asn) c.12284G>A (p.Ser4095Asn) c.12428G>A (p.Ser4143Asn) c.12500G>A (p.Ser4167Asn) | |
1 | g.237784179G>C | CA345413396 | RYR2 | c.*3559G>C (n.*3559G>C) c.12455G>C (p.Ser4152Thr) c.12488G>C (p.Ser4163Thr) c.4644G>C c.12467G>C (p.Ser4156Thr) c.2520G>C c.12419G>C (p.Ser4140Thr) n.3662G>C c.12521G>C (p.Ser4174Thr) c.12518G>C (p.Ser4173Thr) c.12497G>C (p.Ser4166Thr) c.12491G>C (p.Ser4164Thr) c.12485G>C (p.Ser4162Thr) c.12461G>C (p.Ser4154Thr) c.12284G>C (p.Ser4095Thr) c.12428G>C (p.Ser4143Thr) c.12500G>C (p.Ser4167Thr) | |
1 | g.237784179G>T | CA345413397 | RYR2 | c.*3559G>T (n.*3559G>T) c.12455G>T (p.Ser4152Ile) c.12488G>T (p.Ser4163Ile) c.4644G>T c.12467G>T (p.Ser4156Ile) c.2520G>T c.12419G>T (p.Ser4140Ile) n.3662G>T c.12521G>T (p.Ser4174Ile) c.12518G>T (p.Ser4173Ile) c.12497G>T (p.Ser4166Ile) c.12491G>T (p.Ser4164Ile) c.12485G>T (p.Ser4162Ile) c.12461G>T (p.Ser4154Ile) c.12284G>T (p.Ser4095Ile) c.12428G>T (p.Ser4143Ile) c.12500G>T (p.Ser4167Ile) | |
1 | g.237784180C>A | CA16622167 | RYR2 | c.*3560C>A (n.*3560C>A) c.12456C>A (p.Ser4152Arg) c.12489C>A (p.Ser4163Arg) c.4645C>A c.12468C>A (p.Ser4156Arg) c.2521C>A c.12420C>A (p.Ser4140Arg) n.3663C>A c.12522C>A (p.Ser4174Arg) c.12519C>A (p.Ser4173Arg) c.12498C>A (p.Ser4166Arg) c.12492C>A (p.Ser4164Arg) c.12486C>A (p.Ser4162Arg) c.12462C>A (p.Ser4154Arg) c.12285C>A (p.Ser4095Arg) c.12429C>A (p.Ser4143Arg) c.12501C>A (p.Ser4167Arg) | gnomAD v4 |
1 | g.237784180C= | CA2487482416 | RYR2 | c.*3560C= (n.*3560C=) c.12456C= (p.Ser4152=) c.12489C= (p.Ser4163=) c.4645C= c.12468C= (p.Ser4156=) c.2521C= c.12420C= (p.Ser4140=) n.3663C= c.12522C= (p.Ser4174=) c.12519C= (p.Ser4173=) c.12498C= (p.Ser4166=) c.12492C= (p.Ser4164=) c.12486C= (p.Ser4162=) c.12462C= (p.Ser4154=) c.12285C= (p.Ser4095=) c.12429C= (p.Ser4143=) c.12501C= (p.Ser4167=) | |
1 | g.237784180C>G | CA345413401 | RYR2 | c.*3560C>G (n.*3560C>G) c.12456C>G (p.Ser4152Arg) c.12489C>G (p.Ser4163Arg) c.4645C>G c.12468C>G (p.Ser4156Arg) c.2521C>G c.12420C>G (p.Ser4140Arg) n.3663C>G c.12522C>G (p.Ser4174Arg) c.12519C>G (p.Ser4173Arg) c.12498C>G (p.Ser4166Arg) c.12492C>G (p.Ser4164Arg) c.12486C>G (p.Ser4162Arg) c.12462C>G (p.Ser4154Arg) c.12285C>G (p.Ser4095Arg) c.12429C>G (p.Ser4143Arg) c.12501C>G (p.Ser4167Arg) | |
1 | g.237784180C>T | CA424032223 | RYR2 | c.*3560C>T (n.*3560C>T) c.12456C>T (p.Ser4152=) c.12489C>T (p.Ser4163=) c.4645C>T c.12468C>T (p.Ser4156=) c.2521C>T c.12420C>T (p.Ser4140=) n.3663C>T c.12522C>T (p.Ser4174=) c.12519C>T (p.Ser4173=) c.12498C>T (p.Ser4166=) c.12492C>T (p.Ser4164=) c.12486C>T (p.Ser4162=) c.12462C>T (p.Ser4154=) c.12285C>T (p.Ser4095=) c.12429C>T (p.Ser4143=) c.12501C>T (p.Ser4167=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784181C>A | CA424032224 | RYR2 | c.*3561C>A (n.*3561C>A) c.12457C>A (p.Arg4153=) c.12490C>A (p.Arg4164=) c.4646C>A c.12469C>A (p.Arg4157=) c.2522C>A c.12421C>A (p.Arg4141=) n.3664C>A c.12523C>A (p.Arg4175=) c.12520C>A (p.Arg4174=) c.12499C>A (p.Arg4167=) c.12493C>A (p.Arg4165=) c.12487C>A (p.Arg4163=) c.12463C>A (p.Arg4155=) c.12286C>A (p.Arg4096=) c.12430C>A (p.Arg4144=) c.12502C>A (p.Arg4168=) | ClinVar dbSNP gnomAD v4 |
1 | g.237784181C= | CA2487482417 | RYR2 | c.*3561C= (n.*3561C=) c.12457C= (p.Arg4153=) c.12490C= (p.Arg4164=) c.4646C= c.12469C= (p.Arg4157=) c.2522C= c.12421C= (p.Arg4141=) n.3664C= c.12523C= (p.Arg4175=) c.12520C= (p.Arg4174=) c.12499C= (p.Arg4167=) c.12493C= (p.Arg4165=) c.12487C= (p.Arg4163=) c.12463C= (p.Arg4155=) c.12286C= (p.Arg4096=) c.12430C= (p.Arg4144=) c.12502C= (p.Arg4168=) | |
1 | g.237784181C>G | CA345413402 | RYR2 | c.*3561C>G (n.*3561C>G) c.12457C>G (p.Arg4153Gly) c.12490C>G (p.Arg4164Gly) c.4646C>G c.12469C>G (p.Arg4157Gly) c.2522C>G c.12421C>G (p.Arg4141Gly) n.3664C>G c.12523C>G (p.Arg4175Gly) c.12520C>G (p.Arg4174Gly) c.12499C>G (p.Arg4167Gly) c.12493C>G (p.Arg4165Gly) c.12487C>G (p.Arg4163Gly) c.12463C>G (p.Arg4155Gly) c.12286C>G (p.Arg4096Gly) c.12430C>G (p.Arg4144Gly) c.12502C>G (p.Arg4168Gly) | |
1 | g.237784181C>T | CA066453 | RYR2 | c.*3561C>T (n.*3561C>T) c.12457C>T (p.Arg4153Ter) c.12490C>T (p.Arg4164Ter) c.4646C>T c.12469C>T (p.Arg4157Ter) c.2522C>T c.12421C>T (p.Arg4141Ter) n.3664C>T c.12523C>T (p.Arg4175Ter) c.12520C>T (p.Arg4174Ter) c.12499C>T (p.Arg4167Ter) c.12493C>T (p.Arg4165Ter) c.12487C>T (p.Arg4163Ter) c.12463C>T (p.Arg4155Ter) c.12286C>T (p.Arg4096Ter) c.12430C>T (p.Arg4144Ter) c.12502C>T (p.Arg4168Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784182G>A | CA007532 | RYR2 | c.*3562G>A (n.*3562G>A) c.12458G>A (p.Arg4153Gln) c.12491G>A (p.Arg4164Gln) c.4647G>A c.12470G>A (p.Arg4157Gln) c.2523G>A c.12422G>A (p.Arg4141Gln) n.3665G>A c.12524G>A (p.Arg4175Gln) c.12521G>A (p.Arg4174Gln) c.12500G>A (p.Arg4167Gln) c.12494G>A (p.Arg4165Gln) c.12488G>A (p.Arg4163Gln) c.12464G>A (p.Arg4155Gln) c.12287G>A (p.Arg4096Gln) c.12431G>A (p.Arg4144Gln) c.12503G>A (p.Arg4168Gln) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784182G>C | CA345413404 | RYR2 | c.*3562G>C (n.*3562G>C) c.12458G>C (p.Arg4153Pro) c.12491G>C (p.Arg4164Pro) c.4647G>C c.12470G>C (p.Arg4157Pro) c.2523G>C c.12422G>C (p.Arg4141Pro) n.3665G>C c.12524G>C (p.Arg4175Pro) c.12521G>C (p.Arg4174Pro) c.12500G>C (p.Arg4167Pro) c.12494G>C (p.Arg4165Pro) c.12488G>C (p.Arg4163Pro) c.12464G>C (p.Arg4155Pro) c.12287G>C (p.Arg4096Pro) c.12431G>C (p.Arg4144Pro) c.12503G>C (p.Arg4168Pro) | |
1 | g.237784182G= | CA2487482418 | RYR2 | c.*3562G= (n.*3562G=) c.12458G= (p.Arg4153=) c.12491G= (p.Arg4164=) c.4647G= c.12470G= (p.Arg4157=) c.2523G= c.12422G= (p.Arg4141=) n.3665G= c.12524G= (p.Arg4175=) c.12521G= (p.Arg4174=) c.12500G= (p.Arg4167=) c.12494G= (p.Arg4165=) c.12488G= (p.Arg4163=) c.12464G= (p.Arg4155=) c.12287G= (p.Arg4096=) c.12431G= (p.Arg4144=) c.12503G= (p.Arg4168=) | |
1 | g.237784182G>T | CA345413403 | RYR2 | c.*3562G>T (n.*3562G>T) c.12458G>T (p.Arg4153Leu) c.12491G>T (p.Arg4164Leu) c.4647G>T c.12470G>T (p.Arg4157Leu) c.2523G>T c.12422G>T (p.Arg4141Leu) n.3665G>T c.12524G>T (p.Arg4175Leu) c.12521G>T (p.Arg4174Leu) c.12500G>T (p.Arg4167Leu) c.12494G>T (p.Arg4165Leu) c.12488G>T (p.Arg4163Leu) c.12464G>T (p.Arg4155Leu) c.12287G>T (p.Arg4096Leu) c.12431G>T (p.Arg4144Leu) c.12503G>T (p.Arg4168Leu) | |
1 | g.237784183A= | CA2487482419 | RYR2 | c.*3563A= (n.*3563A=) c.12459A= (p.Arg4153=) c.12492A= (p.Arg4164=) c.4648A= c.12471A= (p.Arg4157=) c.2524A= c.12423A= (p.Arg4141=) n.3666A= c.12525A= (p.Arg4175=) c.12522A= (p.Arg4174=) c.12501A= (p.Arg4167=) c.12495A= (p.Arg4165=) c.12489A= (p.Arg4163=) c.12465A= (p.Arg4155=) c.12288A= (p.Arg4096=) c.12432A= (p.Arg4144=) c.12504A= (p.Arg4168=) | |
1 | g.237784183A>C | CA424032225 | RYR2 | c.*3563A>C (n.*3563A>C) c.12459A>C (p.Arg4153=) c.12492A>C (p.Arg4164=) c.4648A>C c.12471A>C (p.Arg4157=) c.2524A>C c.12423A>C (p.Arg4141=) n.3666A>C c.12525A>C (p.Arg4175=) c.12522A>C (p.Arg4174=) c.12501A>C (p.Arg4167=) c.12495A>C (p.Arg4165=) c.12489A>C (p.Arg4163=) c.12465A>C (p.Arg4155=) c.12288A>C (p.Arg4096=) c.12432A>C (p.Arg4144=) c.12504A>C (p.Arg4168=) | |
1 | g.237784183A>G | CA085186 | RYR2 | c.*3563A>G (n.*3563A>G) c.12459A>G (p.Arg4153=) c.12492A>G (p.Arg4164=) c.4648A>G c.12471A>G (p.Arg4157=) c.2524A>G c.12423A>G (p.Arg4141=) n.3666A>G c.12525A>G (p.Arg4175=) c.12522A>G (p.Arg4174=) c.12501A>G (p.Arg4167=) c.12495A>G (p.Arg4165=) c.12489A>G (p.Arg4163=) c.12465A>G (p.Arg4155=) c.12288A>G (p.Arg4096=) c.12432A>G (p.Arg4144=) c.12504A>G (p.Arg4168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784183A>T | CA424032229 | RYR2 | c.*3563A>T (n.*3563A>T) c.12459A>T (p.Arg4153=) c.12492A>T (p.Arg4164=) c.4648A>T c.12471A>T (p.Arg4157=) c.2524A>T c.12423A>T (p.Arg4141=) n.3666A>T c.12525A>T (p.Arg4175=) c.12522A>T (p.Arg4174=) c.12501A>T (p.Arg4167=) c.12495A>T (p.Arg4165=) c.12489A>T (p.Arg4163=) c.12465A>T (p.Arg4155=) c.12288A>T (p.Arg4096=) c.12432A>T (p.Arg4144=) c.12504A>T (p.Arg4168=) | |
1 | g.237784184A= | CA2487482420 | RYR2 | c.*3564A= (n.*3564A=) c.12460A= (p.Thr4154=) c.12493A= (p.Thr4165=) c.4649A= c.12472A= (p.Thr4158=) c.2525A= c.12424A= (p.Thr4142=) n.3667A= c.12526A= (p.Thr4176=) c.12523A= (p.Thr4175=) c.12502A= (p.Thr4168=) c.12496A= (p.Thr4166=) c.12490A= (p.Thr4164=) c.12466A= (p.Thr4156=) c.12289A= (p.Thr4097=) c.12433A= (p.Thr4145=) c.12505A= (p.Thr4169=) | |
1 | g.237784184A>C | CA345413410 | RYR2 | c.*3564A>C (n.*3564A>C) c.12460A>C (p.Thr4154Pro) c.12493A>C (p.Thr4165Pro) c.4649A>C c.12472A>C (p.Thr4158Pro) c.2525A>C c.12424A>C (p.Thr4142Pro) n.3667A>C c.12526A>C (p.Thr4176Pro) c.12523A>C (p.Thr4175Pro) c.12502A>C (p.Thr4168Pro) c.12496A>C (p.Thr4166Pro) c.12490A>C (p.Thr4164Pro) c.12466A>C (p.Thr4156Pro) c.12289A>C (p.Thr4097Pro) c.12433A>C (p.Thr4145Pro) c.12505A>C (p.Thr4169Pro) | dbSNP |
1 | g.237784184A>G | CA345413409 | RYR2 | c.*3564A>G (n.*3564A>G) c.12460A>G (p.Thr4154Ala) c.12493A>G (p.Thr4165Ala) c.4649A>G c.12472A>G (p.Thr4158Ala) c.2525A>G c.12424A>G (p.Thr4142Ala) n.3667A>G c.12526A>G (p.Thr4176Ala) c.12523A>G (p.Thr4175Ala) c.12502A>G (p.Thr4168Ala) c.12496A>G (p.Thr4166Ala) c.12490A>G (p.Thr4164Ala) c.12466A>G (p.Thr4156Ala) c.12289A>G (p.Thr4097Ala) c.12433A>G (p.Thr4145Ala) c.12505A>G (p.Thr4169Ala) | dbSNP gnomAD v4 |
1 | g.237784184A>T | CA345413411 | RYR2 | c.*3564A>T (n.*3564A>T) c.12460A>T (p.Thr4154Ser) c.12493A>T (p.Thr4165Ser) c.4649A>T c.12472A>T (p.Thr4158Ser) c.2525A>T c.12424A>T (p.Thr4142Ser) n.3667A>T c.12526A>T (p.Thr4176Ser) c.12523A>T (p.Thr4175Ser) c.12502A>T (p.Thr4168Ser) c.12496A>T (p.Thr4166Ser) c.12490A>T (p.Thr4164Ser) c.12466A>T (p.Thr4156Ser) c.12289A>T (p.Thr4097Ser) c.12433A>T (p.Thr4145Ser) c.12505A>T (p.Thr4169Ser) | dbSNP |
1 | g.237784185C>A | CA345413412 | RYR2 | c.*3565C>A (n.*3565C>A) c.12461C>A (p.Thr4154Asn) c.12494C>A (p.Thr4165Asn) c.4650C>A c.12473C>A (p.Thr4158Asn) c.2526C>A c.12425C>A (p.Thr4142Asn) n.3668C>A c.12527C>A (p.Thr4176Asn) c.12524C>A (p.Thr4175Asn) c.12503C>A (p.Thr4168Asn) c.12497C>A (p.Thr4166Asn) c.12491C>A (p.Thr4164Asn) c.12467C>A (p.Thr4156Asn) c.12290C>A (p.Thr4097Asn) c.12434C>A (p.Thr4145Asn) c.12506C>A (p.Thr4169Asn) | |
1 | g.237784185C>G | CA345413414 | RYR2 | c.*3565C>G (n.*3565C>G) c.12461C>G (p.Thr4154Ser) c.12494C>G (p.Thr4165Ser) c.4650C>G c.12473C>G (p.Thr4158Ser) c.2526C>G c.12425C>G (p.Thr4142Ser) n.3668C>G c.12527C>G (p.Thr4176Ser) c.12524C>G (p.Thr4175Ser) c.12503C>G (p.Thr4168Ser) c.12497C>G (p.Thr4166Ser) c.12491C>G (p.Thr4164Ser) c.12467C>G (p.Thr4156Ser) c.12290C>G (p.Thr4097Ser) c.12434C>G (p.Thr4145Ser) c.12506C>G (p.Thr4169Ser) | |
1 | g.237784185C>T | CA345413413 | RYR2 | c.*3565C>T (n.*3565C>T) c.12461C>T (p.Thr4154Ile) c.12494C>T (p.Thr4165Ile) c.4650C>T c.12473C>T (p.Thr4158Ile) c.2526C>T c.12425C>T (p.Thr4142Ile) n.3668C>T c.12527C>T (p.Thr4176Ile) c.12524C>T (p.Thr4175Ile) c.12503C>T (p.Thr4168Ile) c.12497C>T (p.Thr4166Ile) c.12491C>T (p.Thr4164Ile) c.12467C>T (p.Thr4156Ile) c.12290C>T (p.Thr4097Ile) c.12434C>T (p.Thr4145Ile) c.12506C>T (p.Thr4169Ile) |