UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784181C>A | CA424032224 | RYR2 | c.*3561C>A (n.*3561C>A) c.12457C>A (p.Arg4153=) c.12490C>A (p.Arg4164=) c.4646C>A c.12469C>A (p.Arg4157=) c.2522C>A c.12421C>A (p.Arg4141=) n.3664C>A c.12523C>A (p.Arg4175=) c.12520C>A (p.Arg4174=) c.12499C>A (p.Arg4167=) c.12493C>A (p.Arg4165=) c.12487C>A (p.Arg4163=) c.12463C>A (p.Arg4155=) c.12286C>A (p.Arg4096=) c.12430C>A (p.Arg4144=) c.12502C>A (p.Arg4168=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784181C= | CA2487482417 | RYR2 | c.*3561C= (n.*3561C=) c.12457C= (p.Arg4153=) c.12490C= (p.Arg4164=) c.4646C= c.12469C= (p.Arg4157=) c.2522C= c.12421C= (p.Arg4141=) n.3664C= c.12523C= (p.Arg4175=) c.12520C= (p.Arg4174=) c.12499C= (p.Arg4167=) c.12493C= (p.Arg4165=) c.12487C= (p.Arg4163=) c.12463C= (p.Arg4155=) c.12286C= (p.Arg4096=) c.12430C= (p.Arg4144=) c.12502C= (p.Arg4168=) | |
| 1 | g.237784181C>G | CA345413402 | RYR2 | c.*3561C>G (n.*3561C>G) c.12457C>G (p.Arg4153Gly) c.12490C>G (p.Arg4164Gly) c.4646C>G c.12469C>G (p.Arg4157Gly) c.2522C>G c.12421C>G (p.Arg4141Gly) n.3664C>G c.12523C>G (p.Arg4175Gly) c.12520C>G (p.Arg4174Gly) c.12499C>G (p.Arg4167Gly) c.12493C>G (p.Arg4165Gly) c.12487C>G (p.Arg4163Gly) c.12463C>G (p.Arg4155Gly) c.12286C>G (p.Arg4096Gly) c.12430C>G (p.Arg4144Gly) c.12502C>G (p.Arg4168Gly) | |
| 1 | g.237784181C>T | CA066453 | RYR2 | c.*3561C>T (n.*3561C>T) c.12457C>T (p.Arg4153Ter) c.12490C>T (p.Arg4164Ter) c.4646C>T c.12469C>T (p.Arg4157Ter) c.2522C>T c.12421C>T (p.Arg4141Ter) n.3664C>T c.12523C>T (p.Arg4175Ter) c.12520C>T (p.Arg4174Ter) c.12499C>T (p.Arg4167Ter) c.12493C>T (p.Arg4165Ter) c.12487C>T (p.Arg4163Ter) c.12463C>T (p.Arg4155Ter) c.12286C>T (p.Arg4096Ter) c.12430C>T (p.Arg4144Ter) c.12502C>T (p.Arg4168Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784182G>A | CA007532 | RYR2 | c.*3562G>A (n.*3562G>A) c.12458G>A (p.Arg4153Gln) c.12491G>A (p.Arg4164Gln) c.4647G>A c.12470G>A (p.Arg4157Gln) c.2523G>A c.12422G>A (p.Arg4141Gln) n.3665G>A c.12524G>A (p.Arg4175Gln) c.12521G>A (p.Arg4174Gln) c.12500G>A (p.Arg4167Gln) c.12494G>A (p.Arg4165Gln) c.12488G>A (p.Arg4163Gln) c.12464G>A (p.Arg4155Gln) c.12287G>A (p.Arg4096Gln) c.12431G>A (p.Arg4144Gln) c.12503G>A (p.Arg4168Gln) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784182G>C | CA345413404 | RYR2 | c.*3562G>C (n.*3562G>C) c.12458G>C (p.Arg4153Pro) c.12491G>C (p.Arg4164Pro) c.4647G>C c.12470G>C (p.Arg4157Pro) c.2523G>C c.12422G>C (p.Arg4141Pro) n.3665G>C c.12524G>C (p.Arg4175Pro) c.12521G>C (p.Arg4174Pro) c.12500G>C (p.Arg4167Pro) c.12494G>C (p.Arg4165Pro) c.12488G>C (p.Arg4163Pro) c.12464G>C (p.Arg4155Pro) c.12287G>C (p.Arg4096Pro) c.12431G>C (p.Arg4144Pro) c.12503G>C (p.Arg4168Pro) | |
| 1 | g.237784182G= | CA2487482418 | RYR2 | c.*3562G= (n.*3562G=) c.12458G= (p.Arg4153=) c.12491G= (p.Arg4164=) c.4647G= c.12470G= (p.Arg4157=) c.2523G= c.12422G= (p.Arg4141=) n.3665G= c.12524G= (p.Arg4175=) c.12521G= (p.Arg4174=) c.12500G= (p.Arg4167=) c.12494G= (p.Arg4165=) c.12488G= (p.Arg4163=) c.12464G= (p.Arg4155=) c.12287G= (p.Arg4096=) c.12431G= (p.Arg4144=) c.12503G= (p.Arg4168=) | |
| 1 | g.237784182G>T | CA345413403 | RYR2 | c.*3562G>T (n.*3562G>T) c.12458G>T (p.Arg4153Leu) c.12491G>T (p.Arg4164Leu) c.4647G>T c.12470G>T (p.Arg4157Leu) c.2523G>T c.12422G>T (p.Arg4141Leu) n.3665G>T c.12524G>T (p.Arg4175Leu) c.12521G>T (p.Arg4174Leu) c.12500G>T (p.Arg4167Leu) c.12494G>T (p.Arg4165Leu) c.12488G>T (p.Arg4163Leu) c.12464G>T (p.Arg4155Leu) c.12287G>T (p.Arg4096Leu) c.12431G>T (p.Arg4144Leu) c.12503G>T (p.Arg4168Leu) | |
| 1 | g.237784183A= | CA2487482419 | RYR2 | c.*3563A= (n.*3563A=) c.12459A= (p.Arg4153=) c.12492A= (p.Arg4164=) c.4648A= c.12471A= (p.Arg4157=) c.2524A= c.12423A= (p.Arg4141=) n.3666A= c.12525A= (p.Arg4175=) c.12522A= (p.Arg4174=) c.12501A= (p.Arg4167=) c.12495A= (p.Arg4165=) c.12489A= (p.Arg4163=) c.12465A= (p.Arg4155=) c.12288A= (p.Arg4096=) c.12432A= (p.Arg4144=) c.12504A= (p.Arg4168=) | |
| 1 | g.237784183A>C | CA424032225 | RYR2 | c.*3563A>C (n.*3563A>C) c.12459A>C (p.Arg4153=) c.12492A>C (p.Arg4164=) c.4648A>C c.12471A>C (p.Arg4157=) c.2524A>C c.12423A>C (p.Arg4141=) n.3666A>C c.12525A>C (p.Arg4175=) c.12522A>C (p.Arg4174=) c.12501A>C (p.Arg4167=) c.12495A>C (p.Arg4165=) c.12489A>C (p.Arg4163=) c.12465A>C (p.Arg4155=) c.12288A>C (p.Arg4096=) c.12432A>C (p.Arg4144=) c.12504A>C (p.Arg4168=) | |
| 1 | g.237784183A>G | CA085186 | RYR2 | c.*3563A>G (n.*3563A>G) c.12459A>G (p.Arg4153=) c.12492A>G (p.Arg4164=) c.4648A>G c.12471A>G (p.Arg4157=) c.2524A>G c.12423A>G (p.Arg4141=) n.3666A>G c.12525A>G (p.Arg4175=) c.12522A>G (p.Arg4174=) c.12501A>G (p.Arg4167=) c.12495A>G (p.Arg4165=) c.12489A>G (p.Arg4163=) c.12465A>G (p.Arg4155=) c.12288A>G (p.Arg4096=) c.12432A>G (p.Arg4144=) c.12504A>G (p.Arg4168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784183A>T | CA424032229 | RYR2 | c.*3563A>T (n.*3563A>T) c.12459A>T (p.Arg4153=) c.12492A>T (p.Arg4164=) c.4648A>T c.12471A>T (p.Arg4157=) c.2524A>T c.12423A>T (p.Arg4141=) n.3666A>T c.12525A>T (p.Arg4175=) c.12522A>T (p.Arg4174=) c.12501A>T (p.Arg4167=) c.12495A>T (p.Arg4165=) c.12489A>T (p.Arg4163=) c.12465A>T (p.Arg4155=) c.12288A>T (p.Arg4096=) c.12432A>T (p.Arg4144=) c.12504A>T (p.Arg4168=) | |
| 1 | g.237784184A= | CA2487482420 | RYR2 | c.*3564A= (n.*3564A=) c.12460A= (p.Thr4154=) c.12493A= (p.Thr4165=) c.4649A= c.12472A= (p.Thr4158=) c.2525A= c.12424A= (p.Thr4142=) n.3667A= c.12526A= (p.Thr4176=) c.12523A= (p.Thr4175=) c.12502A= (p.Thr4168=) c.12496A= (p.Thr4166=) c.12490A= (p.Thr4164=) c.12466A= (p.Thr4156=) c.12289A= (p.Thr4097=) c.12433A= (p.Thr4145=) c.12505A= (p.Thr4169=) | |
| 1 | g.237784184A>C | CA345413410 | RYR2 | c.*3564A>C (n.*3564A>C) c.12460A>C (p.Thr4154Pro) c.12493A>C (p.Thr4165Pro) c.4649A>C c.12472A>C (p.Thr4158Pro) c.2525A>C c.12424A>C (p.Thr4142Pro) n.3667A>C c.12526A>C (p.Thr4176Pro) c.12523A>C (p.Thr4175Pro) c.12502A>C (p.Thr4168Pro) c.12496A>C (p.Thr4166Pro) c.12490A>C (p.Thr4164Pro) c.12466A>C (p.Thr4156Pro) c.12289A>C (p.Thr4097Pro) c.12433A>C (p.Thr4145Pro) c.12505A>C (p.Thr4169Pro) | dbSNP |
| 1 | g.237784184A>G | CA345413409 | RYR2 | c.*3564A>G (n.*3564A>G) c.12460A>G (p.Thr4154Ala) c.12493A>G (p.Thr4165Ala) c.4649A>G c.12472A>G (p.Thr4158Ala) c.2525A>G c.12424A>G (p.Thr4142Ala) n.3667A>G c.12526A>G (p.Thr4176Ala) c.12523A>G (p.Thr4175Ala) c.12502A>G (p.Thr4168Ala) c.12496A>G (p.Thr4166Ala) c.12490A>G (p.Thr4164Ala) c.12466A>G (p.Thr4156Ala) c.12289A>G (p.Thr4097Ala) c.12433A>G (p.Thr4145Ala) c.12505A>G (p.Thr4169Ala) | dbSNP gnomAD v4 |
| 1 | g.237784184A>T | CA345413411 | RYR2 | c.*3564A>T (n.*3564A>T) c.12460A>T (p.Thr4154Ser) c.12493A>T (p.Thr4165Ser) c.4649A>T c.12472A>T (p.Thr4158Ser) c.2525A>T c.12424A>T (p.Thr4142Ser) n.3667A>T c.12526A>T (p.Thr4176Ser) c.12523A>T (p.Thr4175Ser) c.12502A>T (p.Thr4168Ser) c.12496A>T (p.Thr4166Ser) c.12490A>T (p.Thr4164Ser) c.12466A>T (p.Thr4156Ser) c.12289A>T (p.Thr4097Ser) c.12433A>T (p.Thr4145Ser) c.12505A>T (p.Thr4169Ser) | dbSNP |
| 1 | g.237784185C>A | CA345413412 | RYR2 | c.*3565C>A (n.*3565C>A) c.12461C>A (p.Thr4154Asn) c.12494C>A (p.Thr4165Asn) c.4650C>A c.12473C>A (p.Thr4158Asn) c.2526C>A c.12425C>A (p.Thr4142Asn) n.3668C>A c.12527C>A (p.Thr4176Asn) c.12524C>A (p.Thr4175Asn) c.12503C>A (p.Thr4168Asn) c.12497C>A (p.Thr4166Asn) c.12491C>A (p.Thr4164Asn) c.12467C>A (p.Thr4156Asn) c.12290C>A (p.Thr4097Asn) c.12434C>A (p.Thr4145Asn) c.12506C>A (p.Thr4169Asn) | |
| 1 | g.237784185C>G | CA345413414 | RYR2 | c.*3565C>G (n.*3565C>G) c.12461C>G (p.Thr4154Ser) c.12494C>G (p.Thr4165Ser) c.4650C>G c.12473C>G (p.Thr4158Ser) c.2526C>G c.12425C>G (p.Thr4142Ser) n.3668C>G c.12527C>G (p.Thr4176Ser) c.12524C>G (p.Thr4175Ser) c.12503C>G (p.Thr4168Ser) c.12497C>G (p.Thr4166Ser) c.12491C>G (p.Thr4164Ser) c.12467C>G (p.Thr4156Ser) c.12290C>G (p.Thr4097Ser) c.12434C>G (p.Thr4145Ser) c.12506C>G (p.Thr4169Ser) | |
| 1 | g.237784185C>T | CA345413413 | RYR2 | c.*3565C>T (n.*3565C>T) c.12461C>T (p.Thr4154Ile) c.12494C>T (p.Thr4165Ile) c.4650C>T c.12473C>T (p.Thr4158Ile) c.2526C>T c.12425C>T (p.Thr4142Ile) n.3668C>T c.12527C>T (p.Thr4176Ile) c.12524C>T (p.Thr4175Ile) c.12503C>T (p.Thr4168Ile) c.12497C>T (p.Thr4166Ile) c.12491C>T (p.Thr4164Ile) c.12467C>T (p.Thr4156Ile) c.12290C>T (p.Thr4097Ile) c.12434C>T (p.Thr4145Ile) c.12506C>T (p.Thr4169Ile) | |
| 1 | g.237784186C>A | CA424032233 | RYR2 | c.*3566C>A (n.*3566C>A) c.12462C>A (p.Thr4154=) c.12495C>A (p.Thr4165=) c.4651C>A c.12474C>A (p.Thr4158=) c.2527C>A c.12426C>A (p.Thr4142=) n.3669C>A c.12528C>A (p.Thr4176=) c.12525C>A (p.Thr4175=) c.12504C>A (p.Thr4168=) c.12498C>A (p.Thr4166=) c.12492C>A (p.Thr4164=) c.12468C>A (p.Thr4156=) c.12291C>A (p.Thr4097=) c.12435C>A (p.Thr4145=) c.12507C>A (p.Thr4169=) | |
| 1 | g.237784186C= | CA2487482421 | RYR2 | c.*3566C= (n.*3566C=) c.12462C= (p.Thr4154=) c.12495C= (p.Thr4165=) c.4651C= c.12474C= (p.Thr4158=) c.2527C= c.12426C= (p.Thr4142=) n.3669C= c.12528C= (p.Thr4176=) c.12525C= (p.Thr4175=) c.12504C= (p.Thr4168=) c.12498C= (p.Thr4166=) c.12492C= (p.Thr4164=) c.12468C= (p.Thr4156=) c.12291C= (p.Thr4097=) c.12435C= (p.Thr4145=) c.12507C= (p.Thr4169=) | |
| 1 | g.237784186C>G | CA085187 | RYR2 | c.*3566C>G (n.*3566C>G) c.12462C>G (p.Thr4154=) c.12495C>G (p.Thr4165=) c.4651C>G c.12474C>G (p.Thr4158=) c.2527C>G c.12426C>G (p.Thr4142=) n.3669C>G c.12528C>G (p.Thr4176=) c.12525C>G (p.Thr4175=) c.12504C>G (p.Thr4168=) c.12498C>G (p.Thr4166=) c.12492C>G (p.Thr4164=) c.12468C>G (p.Thr4156=) c.12291C>G (p.Thr4097=) c.12435C>G (p.Thr4145=) c.12507C>G (p.Thr4169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784186C>T | CA424032231 | RYR2 | c.*3566C>T (n.*3566C>T) c.12462C>T (p.Thr4154=) c.12495C>T (p.Thr4165=) c.4651C>T c.12474C>T (p.Thr4158=) c.2527C>T c.12426C>T (p.Thr4142=) n.3669C>T c.12528C>T (p.Thr4176=) c.12525C>T (p.Thr4175=) c.12504C>T (p.Thr4168=) c.12498C>T (p.Thr4166=) c.12492C>T (p.Thr4164=) c.12468C>T (p.Thr4156=) c.12291C>T (p.Thr4097=) c.12435C>T (p.Thr4145=) c.12507C>T (p.Thr4169=) | gnomAD v4 |
| 1 | g.237784187C>A | CA345413416 | RYR2 | c.*3567C>A (n.*3567C>A) c.12463C>A (p.Gln4155Lys) c.12496C>A (p.Gln4166Lys) c.4652C>A c.12475C>A (p.Gln4159Lys) c.2528C>A c.12427C>A (p.Gln4143Lys) n.3670C>A c.12529C>A (p.Gln4177Lys) c.12526C>A (p.Gln4176Lys) c.12505C>A (p.Gln4169Lys) c.12499C>A (p.Gln4167Lys) c.12493C>A (p.Gln4165Lys) c.12469C>A (p.Gln4157Lys) c.12292C>A (p.Gln4098Lys) c.12436C>A (p.Gln4146Lys) c.12508C>A (p.Gln4170Lys) | ClinVar |
| 1 | g.237784187C>G | CA345413415 | RYR2 | c.*3567C>G (n.*3567C>G) c.12463C>G (p.Gln4155Glu) c.12496C>G (p.Gln4166Glu) c.4652C>G c.12475C>G (p.Gln4159Glu) c.2528C>G c.12427C>G (p.Gln4143Glu) n.3670C>G c.12529C>G (p.Gln4177Glu) c.12526C>G (p.Gln4176Glu) c.12505C>G (p.Gln4169Glu) c.12499C>G (p.Gln4167Glu) c.12493C>G (p.Gln4165Glu) c.12469C>G (p.Gln4157Glu) c.12292C>G (p.Gln4098Glu) c.12436C>G (p.Gln4146Glu) c.12508C>G (p.Gln4170Glu) | |
| 1 | g.237784187C>T | CA345413417 | RYR2 | c.*3567C>T (n.*3567C>T) c.12463C>T (p.Gln4155Ter) c.12496C>T (p.Gln4166Ter) c.4652C>T c.12475C>T (p.Gln4159Ter) c.2528C>T c.12427C>T (p.Gln4143Ter) n.3670C>T c.12529C>T (p.Gln4177Ter) c.12526C>T (p.Gln4176Ter) c.12505C>T (p.Gln4169Ter) c.12499C>T (p.Gln4167Ter) c.12493C>T (p.Gln4165Ter) c.12469C>T (p.Gln4157Ter) c.12292C>T (p.Gln4098Ter) c.12436C>T (p.Gln4146Ter) c.12508C>T (p.Gln4170Ter) | |
| 1 | g.237784188A= | CA2487482422 | RYR2 | c.*3568A= (n.*3568A=) c.12464A= (p.Gln4155=) c.12497A= (p.Gln4166=) c.4653A= c.12476A= (p.Gln4159=) c.2529A= c.12428A= (p.Gln4143=) n.3671A= c.12530A= (p.Gln4177=) c.12527A= (p.Gln4176=) c.12506A= (p.Gln4169=) c.12500A= (p.Gln4167=) c.12494A= (p.Gln4165=) c.12470A= (p.Gln4157=) c.12293A= (p.Gln4098=) c.12437A= (p.Gln4146=) c.12509A= (p.Gln4170=) | |
| 1 | g.237784188A>C | CA345413418 | RYR2 | c.*3568A>C (n.*3568A>C) c.12464A>C (p.Gln4155Pro) c.12497A>C (p.Gln4166Pro) c.4653A>C c.12476A>C (p.Gln4159Pro) c.2529A>C c.12428A>C (p.Gln4143Pro) n.3671A>C c.12530A>C (p.Gln4177Pro) c.12527A>C (p.Gln4176Pro) c.12506A>C (p.Gln4169Pro) c.12500A>C (p.Gln4167Pro) c.12494A>C (p.Gln4165Pro) c.12470A>C (p.Gln4157Pro) c.12293A>C (p.Gln4098Pro) c.12437A>C (p.Gln4146Pro) c.12509A>C (p.Gln4170Pro) | dbSNP |
| 1 | g.237784188A>G | CA345413420 | RYR2 | c.*3568A>G (n.*3568A>G) c.12464A>G (p.Gln4155Arg) c.12497A>G (p.Gln4166Arg) c.4653A>G c.12476A>G (p.Gln4159Arg) c.2529A>G c.12428A>G (p.Gln4143Arg) n.3671A>G c.12530A>G (p.Gln4177Arg) c.12527A>G (p.Gln4176Arg) c.12506A>G (p.Gln4169Arg) c.12500A>G (p.Gln4167Arg) c.12494A>G (p.Gln4165Arg) c.12470A>G (p.Gln4157Arg) c.12293A>G (p.Gln4098Arg) c.12437A>G (p.Gln4146Arg) c.12509A>G (p.Gln4170Arg) | |
| 1 | g.237784188A>T | CA345413419 | RYR2 | c.*3568A>T (n.*3568A>T) c.12464A>T (p.Gln4155Leu) c.12497A>T (p.Gln4166Leu) c.4653A>T c.12476A>T (p.Gln4159Leu) c.2529A>T c.12428A>T (p.Gln4143Leu) n.3671A>T c.12530A>T (p.Gln4177Leu) c.12527A>T (p.Gln4176Leu) c.12506A>T (p.Gln4169Leu) c.12500A>T (p.Gln4167Leu) c.12494A>T (p.Gln4165Leu) c.12470A>T (p.Gln4157Leu) c.12293A>T (p.Gln4098Leu) c.12437A>T (p.Gln4146Leu) c.12509A>T (p.Gln4170Leu) | |
| 1 | g.237784189G>A | CA424032234 | RYR2 | c.*3569G>A (n.*3569G>A) c.12465G>A (p.Gln4155=) c.12498G>A (p.Gln4166=) c.4654G>A c.12477G>A (p.Gln4159=) c.2530G>A c.12429G>A (p.Gln4143=) n.3672G>A c.12531G>A (p.Gln4177=) c.12528G>A (p.Gln4176=) c.12507G>A (p.Gln4169=) c.12501G>A (p.Gln4167=) c.12495G>A (p.Gln4165=) c.12471G>A (p.Gln4157=) c.12294G>A (p.Gln4098=) c.12438G>A (p.Gln4146=) c.12510G>A (p.Gln4170=) | |
| 1 | g.237784189G>C | CA345413421 | RYR2 | c.*3569G>C (n.*3569G>C) c.12465G>C (p.Gln4155His) c.12498G>C (p.Gln4166His) c.4654G>C c.12477G>C (p.Gln4159His) c.2530G>C c.12429G>C (p.Gln4143His) n.3672G>C c.12531G>C (p.Gln4177His) c.12528G>C (p.Gln4176His) c.12507G>C (p.Gln4169His) c.12501G>C (p.Gln4167His) c.12495G>C (p.Gln4165His) c.12471G>C (p.Gln4157His) c.12294G>C (p.Gln4098His) c.12438G>C (p.Gln4146His) c.12510G>C (p.Gln4170His) | |
| 1 | g.237784189G= | CA2487482423 | RYR2 | c.*3569G= (n.*3569G=) c.12465G= (p.Gln4155=) c.12498G= (p.Gln4166=) c.4654G= c.12477G= (p.Gln4159=) c.2530G= c.12429G= (p.Gln4143=) n.3672G= c.12531G= (p.Gln4177=) c.12528G= (p.Gln4176=) c.12507G= (p.Gln4169=) c.12501G= (p.Gln4167=) c.12495G= (p.Gln4165=) c.12471G= (p.Gln4157=) c.12294G= (p.Gln4098=) c.12438G= (p.Gln4146=) c.12510G= (p.Gln4170=) | |
| 1 | g.237784189G>T | CA345413422 | RYR2 | c.*3569G>T (n.*3569G>T) c.12465G>T (p.Gln4155His) c.12498G>T (p.Gln4166His) c.4654G>T c.12477G>T (p.Gln4159His) c.2530G>T c.12429G>T (p.Gln4143His) n.3672G>T c.12531G>T (p.Gln4177His) c.12528G>T (p.Gln4176His) c.12507G>T (p.Gln4169His) c.12501G>T (p.Gln4167His) c.12495G>T (p.Gln4165His) c.12471G>T (p.Gln4157His) c.12294G>T (p.Gln4098His) c.12438G>T (p.Gln4146His) c.12510G>T (p.Gln4170His) | ClinVar dbSNP |
| 1 | g.237784190T>A | CA345413423 | RYR2 | c.*3570T>A (n.*3570T>A) c.12466T>A (p.Trp4156Arg) c.12499T>A (p.Trp4167Arg) c.4655T>A c.12478T>A (p.Trp4160Arg) c.2531T>A c.12430T>A (p.Trp4144Arg) n.3673T>A c.12532T>A (p.Trp4178Arg) c.12529T>A (p.Trp4177Arg) c.12508T>A (p.Trp4170Arg) c.12502T>A (p.Trp4168Arg) c.12496T>A (p.Trp4166Arg) c.12472T>A (p.Trp4158Arg) c.12295T>A (p.Trp4099Arg) c.12439T>A (p.Trp4147Arg) c.12511T>A (p.Trp4171Arg) | |
| 1 | g.237784190T>C | CA345413424 | RYR2 | c.*3570T>C (n.*3570T>C) c.12466T>C (p.Trp4156Arg) c.12499T>C (p.Trp4167Arg) c.4655T>C c.12478T>C (p.Trp4160Arg) c.2531T>C c.12430T>C (p.Trp4144Arg) n.3673T>C c.12532T>C (p.Trp4178Arg) c.12529T>C (p.Trp4177Arg) c.12508T>C (p.Trp4170Arg) c.12502T>C (p.Trp4168Arg) c.12496T>C (p.Trp4166Arg) c.12472T>C (p.Trp4158Arg) c.12295T>C (p.Trp4099Arg) c.12439T>C (p.Trp4147Arg) c.12511T>C (p.Trp4171Arg) | |
| 1 | g.237784190T>G | CA345413425 | RYR2 | c.*3570T>G (n.*3570T>G) c.12466T>G (p.Trp4156Gly) c.12499T>G (p.Trp4167Gly) c.4655T>G c.12478T>G (p.Trp4160Gly) c.2531T>G c.12430T>G (p.Trp4144Gly) n.3673T>G c.12532T>G (p.Trp4178Gly) c.12529T>G (p.Trp4177Gly) c.12508T>G (p.Trp4170Gly) c.12502T>G (p.Trp4168Gly) c.12496T>G (p.Trp4166Gly) c.12472T>G (p.Trp4158Gly) c.12295T>G (p.Trp4099Gly) c.12439T>G (p.Trp4147Gly) c.12511T>G (p.Trp4171Gly) | |
| 1 | g.237784191G>A | CA345413426 | RYR2 | c.*3571G>A (n.*3571G>A) c.12467G>A (p.Trp4156Ter) c.12500G>A (p.Trp4167Ter) c.4656G>A c.12479G>A (p.Trp4160Ter) c.2532G>A c.12431G>A (p.Trp4144Ter) n.3674G>A c.12533G>A (p.Trp4178Ter) c.12530G>A (p.Trp4177Ter) c.12509G>A (p.Trp4170Ter) c.12503G>A (p.Trp4168Ter) c.12497G>A (p.Trp4166Ter) c.12473G>A (p.Trp4158Ter) c.12296G>A (p.Trp4099Ter) c.12440G>A (p.Trp4147Ter) c.12512G>A (p.Trp4171Ter) | |
| 1 | g.237784191G>C | CA345413427 | RYR2 | c.*3571G>C (n.*3571G>C) c.12467G>C (p.Trp4156Ser) c.12500G>C (p.Trp4167Ser) c.4656G>C c.12479G>C (p.Trp4160Ser) c.2532G>C c.12431G>C (p.Trp4144Ser) n.3674G>C c.12533G>C (p.Trp4178Ser) c.12530G>C (p.Trp4177Ser) c.12509G>C (p.Trp4170Ser) c.12503G>C (p.Trp4168Ser) c.12497G>C (p.Trp4166Ser) c.12473G>C (p.Trp4158Ser) c.12296G>C (p.Trp4099Ser) c.12440G>C (p.Trp4147Ser) c.12512G>C (p.Trp4171Ser) | |
| 1 | g.237784191G>T | CA345413428 | RYR2 | c.*3571G>T (n.*3571G>T) c.12467G>T (p.Trp4156Leu) c.12500G>T (p.Trp4167Leu) c.4656G>T c.12479G>T (p.Trp4160Leu) c.2532G>T c.12431G>T (p.Trp4144Leu) n.3674G>T c.12533G>T (p.Trp4178Leu) c.12530G>T (p.Trp4177Leu) c.12509G>T (p.Trp4170Leu) c.12503G>T (p.Trp4168Leu) c.12497G>T (p.Trp4166Leu) c.12473G>T (p.Trp4158Leu) c.12296G>T (p.Trp4099Leu) c.12440G>T (p.Trp4147Leu) c.12512G>T (p.Trp4171Leu) | |
| 1 | g.237784192G>A | CA345413429 | RYR2 | c.*3572G>A (n.*3572G>A) c.12468G>A (p.Trp4156Ter) c.12501G>A (p.Trp4167Ter) c.4657G>A c.12480G>A (p.Trp4160Ter) c.2533G>A c.12432G>A (p.Trp4144Ter) n.3675G>A c.12534G>A (p.Trp4178Ter) c.12531G>A (p.Trp4177Ter) c.12510G>A (p.Trp4170Ter) c.12504G>A (p.Trp4168Ter) c.12498G>A (p.Trp4166Ter) c.12474G>A (p.Trp4158Ter) c.12297G>A (p.Trp4099Ter) c.12441G>A (p.Trp4147Ter) c.12513G>A (p.Trp4171Ter) | gnomAD v4 |
| 1 | g.237784192G>C | CA345413430 | RYR2 | c.*3572G>C (n.*3572G>C) c.12468G>C (p.Trp4156Cys) c.12501G>C (p.Trp4167Cys) c.4657G>C c.12480G>C (p.Trp4160Cys) c.2533G>C c.12432G>C (p.Trp4144Cys) n.3675G>C c.12534G>C (p.Trp4178Cys) c.12531G>C (p.Trp4177Cys) c.12510G>C (p.Trp4170Cys) c.12504G>C (p.Trp4168Cys) c.12498G>C (p.Trp4166Cys) c.12474G>C (p.Trp4158Cys) c.12297G>C (p.Trp4099Cys) c.12441G>C (p.Trp4147Cys) c.12513G>C (p.Trp4171Cys) | |
| 1 | g.237784192G>T | CA345413431 | RYR2 | c.*3572G>T (n.*3572G>T) c.12468G>T (p.Trp4156Cys) c.12501G>T (p.Trp4167Cys) c.4657G>T c.12480G>T (p.Trp4160Cys) c.2533G>T c.12432G>T (p.Trp4144Cys) n.3675G>T c.12534G>T (p.Trp4178Cys) c.12531G>T (p.Trp4177Cys) c.12510G>T (p.Trp4170Cys) c.12504G>T (p.Trp4168Cys) c.12498G>T (p.Trp4166Cys) c.12474G>T (p.Trp4158Cys) c.12297G>T (p.Trp4099Cys) c.12441G>T (p.Trp4147Cys) c.12513G>T (p.Trp4171Cys) | COSMIC COSMIC |
| 1 | g.237784193G>A | CA345413434 | RYR2 | c.*3573G>A (n.*3573G>A) c.12469G>A (p.Glu4157Lys) c.12502G>A (p.Glu4168Lys) c.4658G>A c.12481G>A (p.Glu4161Lys) c.2534G>A c.12433G>A (p.Glu4145Lys) n.3676G>A c.12535G>A (p.Glu4179Lys) c.12532G>A (p.Glu4178Lys) c.12511G>A (p.Glu4171Lys) c.12505G>A (p.Glu4169Lys) c.12499G>A (p.Glu4167Lys) c.12475G>A (p.Glu4159Lys) c.12298G>A (p.Glu4100Lys) c.12442G>A (p.Glu4148Lys) c.12514G>A (p.Glu4172Lys) | ClinVar |
| 1 | g.237784193G>C | CA345413432 | RYR2 | c.*3573G>C (n.*3573G>C) c.12469G>C (p.Glu4157Gln) c.12502G>C (p.Glu4168Gln) c.4658G>C c.12481G>C (p.Glu4161Gln) c.2534G>C c.12433G>C (p.Glu4145Gln) n.3676G>C c.12535G>C (p.Glu4179Gln) c.12532G>C (p.Glu4178Gln) c.12511G>C (p.Glu4171Gln) c.12505G>C (p.Glu4169Gln) c.12499G>C (p.Glu4167Gln) c.12475G>C (p.Glu4159Gln) c.12298G>C (p.Glu4100Gln) c.12442G>C (p.Glu4148Gln) c.12514G>C (p.Glu4172Gln) | dbSNP |
| 1 | g.237784193G= | CA2487482424 | RYR2 | c.*3573G= (n.*3573G=) c.12469G= (p.Glu4157=) c.12502G= (p.Glu4168=) c.4658G= c.12481G= (p.Glu4161=) c.2534G= c.12433G= (p.Glu4145=) n.3676G= c.12535G= (p.Glu4179=) c.12532G= (p.Glu4178=) c.12511G= (p.Glu4171=) c.12505G= (p.Glu4169=) c.12499G= (p.Glu4167=) c.12475G= (p.Glu4159=) c.12298G= (p.Glu4100=) c.12442G= (p.Glu4148=) c.12514G= (p.Glu4172=) | |
| 1 | g.237784193G>T | CA345413433 | RYR2 | c.*3573G>T (n.*3573G>T) c.12469G>T (p.Glu4157Ter) c.12502G>T (p.Glu4168Ter) c.4658G>T c.12481G>T (p.Glu4161Ter) c.2534G>T c.12433G>T (p.Glu4145Ter) n.3676G>T c.12535G>T (p.Glu4179Ter) c.12532G>T (p.Glu4178Ter) c.12511G>T (p.Glu4171Ter) c.12505G>T (p.Glu4169Ter) c.12499G>T (p.Glu4167Ter) c.12475G>T (p.Glu4159Ter) c.12298G>T (p.Glu4100Ter) c.12442G>T (p.Glu4148Ter) c.12514G>T (p.Glu4172Ter) | gnomAD v4 |
| 1 | g.237784194A>C | CA345413435 | RYR2 | c.*3574A>C (n.*3574A>C) c.12470A>C (p.Glu4157Ala) c.12503A>C (p.Glu4168Ala) c.4659A>C c.12482A>C (p.Glu4161Ala) c.2535A>C c.12434A>C (p.Glu4145Ala) n.3677A>C c.12536A>C (p.Glu4179Ala) c.12533A>C (p.Glu4178Ala) c.12512A>C (p.Glu4171Ala) c.12506A>C (p.Glu4169Ala) c.12500A>C (p.Glu4167Ala) c.12476A>C (p.Glu4159Ala) c.12299A>C (p.Glu4100Ala) c.12443A>C (p.Glu4148Ala) c.12515A>C (p.Glu4172Ala) | |
| 1 | g.237784194A>G | CA345413436 | RYR2 | c.*3574A>G (n.*3574A>G) c.12470A>G (p.Glu4157Gly) c.12503A>G (p.Glu4168Gly) c.4659A>G c.12482A>G (p.Glu4161Gly) c.2535A>G c.12434A>G (p.Glu4145Gly) n.3677A>G c.12536A>G (p.Glu4179Gly) c.12533A>G (p.Glu4178Gly) c.12512A>G (p.Glu4171Gly) c.12506A>G (p.Glu4169Gly) c.12500A>G (p.Glu4167Gly) c.12476A>G (p.Glu4159Gly) c.12299A>G (p.Glu4100Gly) c.12443A>G (p.Glu4148Gly) c.12515A>G (p.Glu4172Gly) | gnomAD v4 COSMIC |
| 1 | g.237784194A>T | CA345413437 | RYR2 | c.*3574A>T (n.*3574A>T) c.12470A>T (p.Glu4157Val) c.12503A>T (p.Glu4168Val) c.4659A>T c.12482A>T (p.Glu4161Val) c.2535A>T c.12434A>T (p.Glu4145Val) n.3677A>T c.12536A>T (p.Glu4179Val) c.12533A>T (p.Glu4178Val) c.12512A>T (p.Glu4171Val) c.12506A>T (p.Glu4169Val) c.12500A>T (p.Glu4167Val) c.12476A>T (p.Glu4159Val) c.12299A>T (p.Glu4100Val) c.12443A>T (p.Glu4148Val) c.12515A>T (p.Glu4172Val) |