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.237828413G>A | CA345429352 | RYR2 | c.*5715G>A (n.*5715G>A) c.14605G>A (p.Asp4869Asn) c.14644G>A (p.Asp4882Asn) c.6794G>A c.14623G>A (p.Asp4875Asn) c.14572G>A (p.Asp4858Asn) n.1134G>A c.14677G>A (p.Asp4893Asn) c.14674G>A (p.Asp4892Asn) c.14653G>A (p.Asp4885Asn) c.14647G>A (p.Asp4883Asn) c.14641G>A (p.Asp4881Asn) c.14617G>A (p.Asp4873Asn) c.14440G>A (p.Asp4814Asn) c.14584G>A (p.Asp4862Asn) c.14656G>A (p.Asp4886Asn) | gnomAD v4 |
| 1 | g.237828413G>C | CA008317 | RYR2 | c.*5715G>C (n.*5715G>C) c.14605G>C (p.Asp4869His) c.14644G>C (p.Asp4882His) c.6794G>C c.14623G>C (p.Asp4875His) c.14572G>C (p.Asp4858His) n.1134G>C c.14677G>C (p.Asp4893His) c.14674G>C (p.Asp4892His) c.14653G>C (p.Asp4885His) c.14647G>C (p.Asp4883His) c.14641G>C (p.Asp4881His) c.14617G>C (p.Asp4873His) c.14440G>C (p.Asp4814His) c.14584G>C (p.Asp4862His) c.14656G>C (p.Asp4886His) | ClinVar dbSNP |
| 1 | g.237828413G= | CA2487501693 | RYR2 | c.*5715G= (n.*5715G=) c.14605G= (p.Asp4869=) c.14644G= (p.Asp4882=) c.6794G= c.14623G= (p.Asp4875=) c.14572G= (p.Asp4858=) n.1134G= c.14677G= (p.Asp4893=) c.14674G= (p.Asp4892=) c.14653G= (p.Asp4885=) c.14647G= (p.Asp4883=) c.14641G= (p.Asp4881=) c.14617G= (p.Asp4873=) c.14440G= (p.Asp4814=) c.14584G= (p.Asp4862=) c.14656G= (p.Asp4886=) | |
| 1 | g.237828413G>T | CA345429354 | RYR2 | c.*5715G>T (n.*5715G>T) c.14605G>T (p.Asp4869Tyr) c.14644G>T (p.Asp4882Tyr) c.6794G>T c.14623G>T (p.Asp4875Tyr) c.14572G>T (p.Asp4858Tyr) n.1134G>T c.14677G>T (p.Asp4893Tyr) c.14674G>T (p.Asp4892Tyr) c.14653G>T (p.Asp4885Tyr) c.14647G>T (p.Asp4883Tyr) c.14641G>T (p.Asp4881Tyr) c.14617G>T (p.Asp4873Tyr) c.14440G>T (p.Asp4814Tyr) c.14584G>T (p.Asp4862Tyr) c.14656G>T (p.Asp4886Tyr) | gnomAD v4 |
| 1 | g.237828414A>C | CA345429357 | RYR2 | c.*5716A>C (n.*5716A>C) c.14606A>C (p.Asp4869Ala) c.14645A>C (p.Asp4882Ala) c.6795A>C c.14624A>C (p.Asp4875Ala) c.14573A>C (p.Asp4858Ala) n.1135A>C c.14678A>C (p.Asp4893Ala) c.14675A>C (p.Asp4892Ala) c.14654A>C (p.Asp4885Ala) c.14648A>C (p.Asp4883Ala) c.14642A>C (p.Asp4881Ala) c.14618A>C (p.Asp4873Ala) c.14441A>C (p.Asp4814Ala) c.14585A>C (p.Asp4862Ala) c.14657A>C (p.Asp4886Ala) | |
| 1 | g.237828414A>G | CA345429359 | RYR2 | c.*5716A>G (n.*5716A>G) c.14606A>G (p.Asp4869Gly) c.14645A>G (p.Asp4882Gly) c.6795A>G c.14624A>G (p.Asp4875Gly) c.14573A>G (p.Asp4858Gly) n.1135A>G c.14678A>G (p.Asp4893Gly) c.14675A>G (p.Asp4892Gly) c.14654A>G (p.Asp4885Gly) c.14648A>G (p.Asp4883Gly) c.14642A>G (p.Asp4881Gly) c.14618A>G (p.Asp4873Gly) c.14441A>G (p.Asp4814Gly) c.14585A>G (p.Asp4862Gly) c.14657A>G (p.Asp4886Gly) | gnomAD v4 COSMIC COSMIC |
| 1 | g.237828414A>T | CA345429361 | RYR2 | c.*5716A>T (n.*5716A>T) c.14606A>T (p.Asp4869Val) c.14645A>T (p.Asp4882Val) c.6795A>T c.14624A>T (p.Asp4875Val) c.14573A>T (p.Asp4858Val) n.1135A>T c.14678A>T (p.Asp4893Val) c.14675A>T (p.Asp4892Val) c.14654A>T (p.Asp4885Val) c.14648A>T (p.Asp4883Val) c.14642A>T (p.Asp4881Val) c.14618A>T (p.Asp4873Val) c.14441A>T (p.Asp4814Val) c.14585A>T (p.Asp4862Val) c.14657A>T (p.Asp4886Val) | |
| 1 | g.237828415C>A | CA345429362 | RYR2 | c.*5717C>A (n.*5717C>A) c.14607C>A (p.Asp4869Glu) c.14646C>A (p.Asp4882Glu) c.6796C>A c.14625C>A (p.Asp4875Glu) c.14574C>A (p.Asp4858Glu) n.1136C>A c.14679C>A (p.Asp4893Glu) c.14676C>A (p.Asp4892Glu) c.14655C>A (p.Asp4885Glu) c.14649C>A (p.Asp4883Glu) c.14643C>A (p.Asp4881Glu) c.14619C>A (p.Asp4873Glu) c.14442C>A (p.Asp4814Glu) c.14586C>A (p.Asp4862Glu) c.14658C>A (p.Asp4886Glu) | gnomAD v4 |
| 1 | g.237828415C= | CA2487501694 | RYR2 | c.*5717C= (n.*5717C=) c.14607C= (p.Asp4869=) c.14646C= (p.Asp4882=) c.6796C= c.14625C= (p.Asp4875=) c.14574C= (p.Asp4858=) n.1136C= c.14679C= (p.Asp4893=) c.14676C= (p.Asp4892=) c.14655C= (p.Asp4885=) c.14649C= (p.Asp4883=) c.14643C= (p.Asp4881=) c.14619C= (p.Asp4873=) c.14442C= (p.Asp4814=) c.14586C= (p.Asp4862=) c.14658C= (p.Asp4886=) | |
| 1 | g.237828415C>G | CA345429364 | RYR2 | c.*5717C>G (n.*5717C>G) c.14607C>G (p.Asp4869Glu) c.14646C>G (p.Asp4882Glu) c.6796C>G c.14625C>G (p.Asp4875Glu) c.14574C>G (p.Asp4858Glu) n.1136C>G c.14679C>G (p.Asp4893Glu) c.14676C>G (p.Asp4892Glu) c.14655C>G (p.Asp4885Glu) c.14649C>G (p.Asp4883Glu) c.14643C>G (p.Asp4881Glu) c.14619C>G (p.Asp4873Glu) c.14442C>G (p.Asp4814Glu) c.14586C>G (p.Asp4862Glu) c.14658C>G (p.Asp4886Glu) | gnomAD v4 |
| 1 | g.237828415C>T | CA424051881 | RYR2 | c.*5717C>T (n.*5717C>T) c.14607C>T (p.Asp4869=) c.14646C>T (p.Asp4882=) c.6796C>T c.14625C>T (p.Asp4875=) c.14574C>T (p.Asp4858=) n.1136C>T c.14679C>T (p.Asp4893=) c.14676C>T (p.Asp4892=) c.14655C>T (p.Asp4885=) c.14649C>T (p.Asp4883=) c.14643C>T (p.Asp4881=) c.14619C>T (p.Asp4873=) c.14442C>T (p.Asp4814=) c.14586C>T (p.Asp4862=) c.14658C>T (p.Asp4886=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237828416C>A | CA345429366 | RYR2 | c.*5718C>A (n.*5718C>A) c.14608C>A (p.Gln4870Lys) c.14647C>A (p.Gln4883Lys) c.6797C>A c.14626C>A (p.Gln4876Lys) c.14575C>A (p.Gln4859Lys) n.1137C>A c.14680C>A (p.Gln4894Lys) c.14677C>A (p.Gln4893Lys) c.14656C>A (p.Gln4886Lys) c.14650C>A (p.Gln4884Lys) c.14644C>A (p.Gln4882Lys) c.14620C>A (p.Gln4874Lys) c.14443C>A (p.Gln4815Lys) c.14587C>A (p.Gln4863Lys) c.14659C>A (p.Gln4887Lys) | gnomAD v4 |
| 1 | g.237828416C>G | CA345429367 | RYR2 | c.*5718C>G (n.*5718C>G) c.14608C>G (p.Gln4870Glu) c.14647C>G (p.Gln4883Glu) c.6797C>G c.14626C>G (p.Gln4876Glu) c.14575C>G (p.Gln4859Glu) n.1137C>G c.14680C>G (p.Gln4894Glu) c.14677C>G (p.Gln4893Glu) c.14656C>G (p.Gln4886Glu) c.14650C>G (p.Gln4884Glu) c.14644C>G (p.Gln4882Glu) c.14620C>G (p.Gln4874Glu) c.14443C>G (p.Gln4815Glu) c.14587C>G (p.Gln4863Glu) c.14659C>G (p.Gln4887Glu) | |
| 1 | g.237828416C>T | CA345429369 | RYR2 | c.*5718C>T (n.*5718C>T) c.14608C>T (p.Gln4870Ter) c.14647C>T (p.Gln4883Ter) c.6797C>T c.14626C>T (p.Gln4876Ter) c.14575C>T (p.Gln4859Ter) n.1137C>T c.14680C>T (p.Gln4894Ter) c.14677C>T (p.Gln4893Ter) c.14656C>T (p.Gln4886Ter) c.14650C>T (p.Gln4884Ter) c.14644C>T (p.Gln4882Ter) c.14620C>T (p.Gln4874Ter) c.14443C>T (p.Gln4815Ter) c.14587C>T (p.Gln4863Ter) c.14659C>T (p.Gln4887Ter) | gnomAD v4 |
| 1 | g.237828417A>C | CA345429371 | RYR2 | c.*5719A>C (n.*5719A>C) c.14609A>C (p.Gln4870Pro) c.14648A>C (p.Gln4883Pro) c.6798A>C c.14627A>C (p.Gln4876Pro) c.14576A>C (p.Gln4859Pro) n.1138A>C c.14681A>C (p.Gln4894Pro) c.14678A>C (p.Gln4893Pro) c.14657A>C (p.Gln4886Pro) c.14651A>C (p.Gln4884Pro) c.14645A>C (p.Gln4882Pro) c.14621A>C (p.Gln4874Pro) c.14444A>C (p.Gln4815Pro) c.14588A>C (p.Gln4863Pro) c.14660A>C (p.Gln4887Pro) | |
| 1 | g.237828417A>G | CA345429372 | RYR2 | c.*5719A>G (n.*5719A>G) c.14609A>G (p.Gln4870Arg) c.14648A>G (p.Gln4883Arg) c.6798A>G c.14627A>G (p.Gln4876Arg) c.14576A>G (p.Gln4859Arg) n.1138A>G c.14681A>G (p.Gln4894Arg) c.14678A>G (p.Gln4893Arg) c.14657A>G (p.Gln4886Arg) c.14651A>G (p.Gln4884Arg) c.14645A>G (p.Gln4882Arg) c.14621A>G (p.Gln4874Arg) c.14444A>G (p.Gln4815Arg) c.14588A>G (p.Gln4863Arg) c.14660A>G (p.Gln4887Arg) | gnomAD v4 |
| 1 | g.237828417A>T | CA345429374 | RYR2 | c.*5719A>T (n.*5719A>T) c.14609A>T (p.Gln4870Leu) c.14648A>T (p.Gln4883Leu) c.6798A>T c.14627A>T (p.Gln4876Leu) c.14576A>T (p.Gln4859Leu) n.1138A>T c.14681A>T (p.Gln4894Leu) c.14678A>T (p.Gln4893Leu) c.14657A>T (p.Gln4886Leu) c.14651A>T (p.Gln4884Leu) c.14645A>T (p.Gln4882Leu) c.14621A>T (p.Gln4874Leu) c.14444A>T (p.Gln4815Leu) c.14588A>T (p.Gln4863Leu) c.14660A>T (p.Gln4887Leu) | gnomAD v4 |
| 1 | g.237828418A>C | CA345429377 | RYR2 | c.*5720A>C (n.*5720A>C) c.14610A>C (p.Gln4870His) c.14649A>C (p.Gln4883His) c.6799A>C c.14628A>C (p.Gln4876His) c.14577A>C (p.Gln4859His) n.1139A>C c.14682A>C (p.Gln4894His) c.14679A>C (p.Gln4893His) c.14658A>C (p.Gln4886His) c.14652A>C (p.Gln4884His) c.14646A>C (p.Gln4882His) c.14622A>C (p.Gln4874His) c.14445A>C (p.Gln4815His) c.14589A>C (p.Gln4863His) c.14661A>C (p.Gln4887His) | |
| 1 | g.237828418A>G | CA424051882 | RYR2 | c.*5720A>G (n.*5720A>G) c.14610A>G (p.Gln4870=) c.14649A>G (p.Gln4883=) c.6799A>G c.14628A>G (p.Gln4876=) c.14577A>G (p.Gln4859=) n.1139A>G c.14682A>G (p.Gln4894=) c.14679A>G (p.Gln4893=) c.14658A>G (p.Gln4886=) c.14652A>G (p.Gln4884=) c.14646A>G (p.Gln4882=) c.14622A>G (p.Gln4874=) c.14445A>G (p.Gln4815=) c.14589A>G (p.Gln4863=) c.14661A>G (p.Gln4887=) | gnomAD v4 |
| 1 | g.237828418A>T | CA345429378 | RYR2 | c.*5720A>T (n.*5720A>T) c.14610A>T (p.Gln4870His) c.14649A>T (p.Gln4883His) c.6799A>T c.14628A>T (p.Gln4876His) c.14577A>T (p.Gln4859His) n.1139A>T c.14682A>T (p.Gln4894His) c.14679A>T (p.Gln4893His) c.14658A>T (p.Gln4886His) c.14652A>T (p.Gln4884His) c.14646A>T (p.Gln4882His) c.14622A>T (p.Gln4874His) c.14445A>T (p.Gln4815His) c.14589A>T (p.Gln4863His) c.14661A>T (p.Gln4887His) | gnomAD v4 |
| 1 | g.237828419_237828420del | CA2574464333 | RYR2 | c.*5721_*5722del (n.*5721_*5722del) c.14611_14612del (p.Gln4871GlyfsTer19) c.14650_14651del (p.Gln4884GlyfsTer19) c.6800_6801del c.14629_14630del (p.Gln4877GlyfsTer19) c.14578_14579del (p.Gln4860GlyfsTer19) n.1140_1141del c.14683_14684del (p.Gln4895GlyfsTer19) c.14680_14681del (p.Gln4894GlyfsTer19) c.14659_14660del (p.Gln4887GlyfsTer19) c.14653_14654del (p.Gln4885GlyfsTer19) c.14647_14648del (p.Gln4883GlyfsTer19) c.14623_14624del (p.Gln4875GlyfsTer19) c.14446_14447del (p.Gln4816GlyfsTer19) c.14590_14591del (p.Gln4864GlyfsTer19) c.14662_14663del (p.Gln4888GlyfsTer19) | |
| 1 | g.237828419C>A | CA345429380 | RYR2 | c.*5721C>A (n.*5721C>A) c.14611C>A (p.Gln4871Lys) c.14650C>A (p.Gln4884Lys) c.6800C>A c.14629C>A (p.Gln4877Lys) c.14578C>A (p.Gln4860Lys) n.1140C>A c.14683C>A (p.Gln4895Lys) c.14680C>A (p.Gln4894Lys) c.14659C>A (p.Gln4887Lys) c.14653C>A (p.Gln4885Lys) c.14647C>A (p.Gln4883Lys) c.14623C>A (p.Gln4875Lys) c.14446C>A (p.Gln4816Lys) c.14590C>A (p.Gln4864Lys) c.14662C>A (p.Gln4888Lys) | gnomAD v4 |
| 1 | g.237828419C>G | CA345429384 | RYR2 | c.*5721C>G (n.*5721C>G) c.14611C>G (p.Gln4871Glu) c.14650C>G (p.Gln4884Glu) c.6800C>G c.14629C>G (p.Gln4877Glu) c.14578C>G (p.Gln4860Glu) n.1140C>G c.14683C>G (p.Gln4895Glu) c.14680C>G (p.Gln4894Glu) c.14659C>G (p.Gln4887Glu) c.14653C>G (p.Gln4885Glu) c.14647C>G (p.Gln4883Glu) c.14623C>G (p.Gln4875Glu) c.14446C>G (p.Gln4816Glu) c.14590C>G (p.Gln4864Glu) c.14662C>G (p.Gln4888Glu) | |
| 1 | g.237828419C>T | CA345429382 | RYR2 | c.*5721C>T (n.*5721C>T) c.14611C>T (p.Gln4871Ter) c.14650C>T (p.Gln4884Ter) c.6800C>T c.14629C>T (p.Gln4877Ter) c.14578C>T (p.Gln4860Ter) n.1140C>T c.14683C>T (p.Gln4895Ter) c.14680C>T (p.Gln4894Ter) c.14659C>T (p.Gln4887Ter) c.14653C>T (p.Gln4885Ter) c.14647C>T (p.Gln4883Ter) c.14623C>T (p.Gln4875Ter) c.14446C>T (p.Gln4816Ter) c.14590C>T (p.Gln4864Ter) c.14662C>T (p.Gln4888Ter) | gnomAD v4 |
| 1 | g.237828420A>C | CA345429385 | RYR2 | c.*5722A>C (n.*5722A>C) c.14612A>C (p.Gln4871Pro) c.14651A>C (p.Gln4884Pro) c.6801A>C c.14630A>C (p.Gln4877Pro) c.14579A>C (p.Gln4860Pro) n.1141A>C c.14684A>C (p.Gln4895Pro) c.14681A>C (p.Gln4894Pro) c.14660A>C (p.Gln4887Pro) c.14654A>C (p.Gln4885Pro) c.14648A>C (p.Gln4883Pro) c.14624A>C (p.Gln4875Pro) c.14447A>C (p.Gln4816Pro) c.14591A>C (p.Gln4864Pro) c.14663A>C (p.Gln4888Pro) | |
| 1 | g.237828420A>G | CA345429386 | RYR2 | c.*5722A>G (n.*5722A>G) c.14612A>G (p.Gln4871Arg) c.14651A>G (p.Gln4884Arg) c.6801A>G c.14630A>G (p.Gln4877Arg) c.14579A>G (p.Gln4860Arg) n.1141A>G c.14684A>G (p.Gln4895Arg) c.14681A>G (p.Gln4894Arg) c.14660A>G (p.Gln4887Arg) c.14654A>G (p.Gln4885Arg) c.14648A>G (p.Gln4883Arg) c.14624A>G (p.Gln4875Arg) c.14447A>G (p.Gln4816Arg) c.14591A>G (p.Gln4864Arg) c.14663A>G (p.Gln4888Arg) | gnomAD v4 COSMIC COSMIC |
| 1 | g.237828420A>T | CA345429388 | RYR2 | c.*5722A>T (n.*5722A>T) c.14612A>T (p.Gln4871Leu) c.14651A>T (p.Gln4884Leu) c.6801A>T c.14630A>T (p.Gln4877Leu) c.14579A>T (p.Gln4860Leu) n.1141A>T c.14684A>T (p.Gln4895Leu) c.14681A>T (p.Gln4894Leu) c.14660A>T (p.Gln4887Leu) c.14654A>T (p.Gln4885Leu) c.14648A>T (p.Gln4883Leu) c.14624A>T (p.Gln4875Leu) c.14447A>T (p.Gln4816Leu) c.14591A>T (p.Gln4864Leu) c.14663A>T (p.Gln4888Leu) | gnomAD v4 |
| 1 | g.237828421G>A | CA424051883 | RYR2 | c.*5723G>A (n.*5723G>A) c.14613G>A (p.Gln4871=) c.14652G>A (p.Gln4884=) c.6802G>A c.14631G>A (p.Gln4877=) c.14580G>A (p.Gln4860=) n.1142G>A c.14685G>A (p.Gln4895=) c.14682G>A (p.Gln4894=) c.14661G>A (p.Gln4887=) c.14655G>A (p.Gln4885=) c.14649G>A (p.Gln4883=) c.14625G>A (p.Gln4875=) c.14448G>A (p.Gln4816=) c.14592G>A (p.Gln4864=) c.14664G>A (p.Gln4888=) | gnomAD v4 |
| 1 | g.237828421G>C | CA345429390 | RYR2 | c.*5723G>C (n.*5723G>C) c.14613G>C (p.Gln4871His) c.14652G>C (p.Gln4884His) c.6802G>C c.14631G>C (p.Gln4877His) c.14580G>C (p.Gln4860His) n.1142G>C c.14685G>C (p.Gln4895His) c.14682G>C (p.Gln4894His) c.14661G>C (p.Gln4887His) c.14655G>C (p.Gln4885His) c.14649G>C (p.Gln4883His) c.14625G>C (p.Gln4875His) c.14448G>C (p.Gln4816His) c.14592G>C (p.Gln4864His) c.14664G>C (p.Gln4888His) | |
| 1 | g.237828421G>T | CA345429392 | RYR2 | c.*5723G>T (n.*5723G>T) c.14613G>T (p.Gln4871His) c.14652G>T (p.Gln4884His) c.6802G>T c.14631G>T (p.Gln4877His) c.14580G>T (p.Gln4860His) n.1142G>T c.14685G>T (p.Gln4895His) c.14682G>T (p.Gln4894His) c.14661G>T (p.Gln4887His) c.14655G>T (p.Gln4885His) c.14649G>T (p.Gln4883His) c.14625G>T (p.Gln4875His) c.14448G>T (p.Gln4816His) c.14592G>T (p.Gln4864His) c.14664G>T (p.Gln4888His) | gnomAD v4 |
| 1 | g.237828422G>A | CA345429394 | RYR2 | c.*5724G>A (n.*5724G>A) c.14614G>A (p.Glu4872Lys) c.14653G>A (p.Glu4885Lys) c.6803G>A c.14632G>A (p.Glu4878Lys) c.14581G>A (p.Glu4861Lys) n.1143G>A c.14686G>A (p.Glu4896Lys) c.14683G>A (p.Glu4895Lys) c.14662G>A (p.Glu4888Lys) c.14656G>A (p.Glu4886Lys) c.14650G>A (p.Glu4884Lys) c.14626G>A (p.Glu4876Lys) c.14449G>A (p.Glu4817Lys) c.14593G>A (p.Glu4865Lys) c.14665G>A (p.Glu4889Lys) | gnomAD v4 |
| 1 | g.237828422G>C | CA345429396 | RYR2 | c.*5724G>C (n.*5724G>C) c.14614G>C (p.Glu4872Gln) c.14653G>C (p.Glu4885Gln) c.6803G>C c.14632G>C (p.Glu4878Gln) c.14581G>C (p.Glu4861Gln) n.1143G>C c.14686G>C (p.Glu4896Gln) c.14683G>C (p.Glu4895Gln) c.14662G>C (p.Glu4888Gln) c.14656G>C (p.Glu4886Gln) c.14650G>C (p.Glu4884Gln) c.14626G>C (p.Glu4876Gln) c.14449G>C (p.Glu4817Gln) c.14593G>C (p.Glu4865Gln) c.14665G>C (p.Glu4889Gln) | gnomAD v4 |
| 1 | g.237828422G>T | CA345429398 | RYR2 | c.*5724G>T (n.*5724G>T) c.14614G>T (p.Glu4872Ter) c.14653G>T (p.Glu4885Ter) c.6803G>T c.14632G>T (p.Glu4878Ter) c.14581G>T (p.Glu4861Ter) n.1143G>T c.14686G>T (p.Glu4896Ter) c.14683G>T (p.Glu4895Ter) c.14662G>T (p.Glu4888Ter) c.14656G>T (p.Glu4886Ter) c.14650G>T (p.Glu4884Ter) c.14626G>T (p.Glu4876Ter) c.14449G>T (p.Glu4817Ter) c.14593G>T (p.Glu4865Ter) c.14665G>T (p.Glu4889Ter) | gnomAD v4 |
| 1 | g.237828423A>C | CA345429399 | RYR2 | c.*5725A>C (n.*5725A>C) c.14615A>C (p.Glu4872Ala) c.14654A>C (p.Glu4885Ala) c.6804A>C c.14633A>C (p.Glu4878Ala) c.14582A>C (p.Glu4861Ala) n.1144A>C c.14687A>C (p.Glu4896Ala) c.14684A>C (p.Glu4895Ala) c.14663A>C (p.Glu4888Ala) c.14657A>C (p.Glu4886Ala) c.14651A>C (p.Glu4884Ala) c.14627A>C (p.Glu4876Ala) c.14450A>C (p.Glu4817Ala) c.14594A>C (p.Glu4865Ala) c.14666A>C (p.Glu4889Ala) | |
| 1 | g.237828423A>G | CA345429400 | RYR2 | c.*5725A>G (n.*5725A>G) c.14615A>G (p.Glu4872Gly) c.14654A>G (p.Glu4885Gly) c.6804A>G c.14633A>G (p.Glu4878Gly) c.14582A>G (p.Glu4861Gly) n.1144A>G c.14687A>G (p.Glu4896Gly) c.14684A>G (p.Glu4895Gly) c.14663A>G (p.Glu4888Gly) c.14657A>G (p.Glu4886Gly) c.14651A>G (p.Glu4884Gly) c.14627A>G (p.Glu4876Gly) c.14450A>G (p.Glu4817Gly) c.14594A>G (p.Glu4865Gly) c.14666A>G (p.Glu4889Gly) | gnomAD v4 |
| 1 | g.237828423A>T | CA345429402 | RYR2 | c.*5725A>T (n.*5725A>T) c.14615A>T (p.Glu4872Val) c.14654A>T (p.Glu4885Val) c.6804A>T c.14633A>T (p.Glu4878Val) c.14582A>T (p.Glu4861Val) n.1144A>T c.14687A>T (p.Glu4896Val) c.14684A>T (p.Glu4895Val) c.14663A>T (p.Glu4888Val) c.14657A>T (p.Glu4886Val) c.14651A>T (p.Glu4884Val) c.14627A>T (p.Glu4876Val) c.14450A>T (p.Glu4817Val) c.14594A>T (p.Glu4865Val) c.14666A>T (p.Glu4889Val) | |
| 1 | g.237828424A>C | CA345429404 | RYR2 | c.*5726A>C (n.*5726A>C) c.14616A>C (p.Glu4872Asp) c.14655A>C (p.Glu4885Asp) c.6805A>C c.14634A>C (p.Glu4878Asp) c.14583A>C (p.Glu4861Asp) n.1145A>C c.14688A>C (p.Glu4896Asp) c.14685A>C (p.Glu4895Asp) c.14664A>C (p.Glu4888Asp) c.14658A>C (p.Glu4886Asp) c.14652A>C (p.Glu4884Asp) c.14628A>C (p.Glu4876Asp) c.14451A>C (p.Glu4817Asp) c.14595A>C (p.Glu4865Asp) c.14667A>C (p.Glu4889Asp) | |
| 1 | g.237828424A>G | CA424051884 | RYR2 | c.*5726A>G (n.*5726A>G) c.14616A>G (p.Glu4872=) c.14655A>G (p.Glu4885=) c.6805A>G c.14634A>G (p.Glu4878=) c.14583A>G (p.Glu4861=) n.1145A>G c.14688A>G (p.Glu4896=) c.14685A>G (p.Glu4895=) c.14664A>G (p.Glu4888=) c.14658A>G (p.Glu4886=) c.14652A>G (p.Glu4884=) c.14628A>G (p.Glu4876=) c.14451A>G (p.Glu4817=) c.14595A>G (p.Glu4865=) c.14667A>G (p.Glu4889=) | ClinVar gnomAD v4 |
| 1 | g.237828424A>T | CA345429406 | RYR2 | c.*5726A>T (n.*5726A>T) c.14616A>T (p.Glu4872Asp) c.14655A>T (p.Glu4885Asp) c.6805A>T c.14634A>T (p.Glu4878Asp) c.14583A>T (p.Glu4861Asp) n.1145A>T c.14688A>T (p.Glu4896Asp) c.14685A>T (p.Glu4895Asp) c.14664A>T (p.Glu4888Asp) c.14658A>T (p.Glu4886Asp) c.14652A>T (p.Glu4884Asp) c.14628A>T (p.Glu4876Asp) c.14451A>T (p.Glu4817Asp) c.14595A>T (p.Glu4865Asp) c.14667A>T (p.Glu4889Asp) | |
| 1 | g.237828425C>A | CA008325 | RYR2 | c.*5727C>A (n.*5727C>A) c.14617C>A (p.Gln4873Lys) c.14656C>A (p.Gln4886Lys) c.6806C>A c.14635C>A (p.Gln4879Lys) c.14584C>A (p.Gln4862Lys) n.1146C>A c.14689C>A (p.Gln4897Lys) c.14686C>A (p.Gln4896Lys) c.14665C>A (p.Gln4889Lys) c.14659C>A (p.Gln4887Lys) c.14653C>A (p.Gln4885Lys) c.14629C>A (p.Gln4877Lys) c.14452C>A (p.Gln4818Lys) c.14596C>A (p.Gln4866Lys) c.14668C>A (p.Gln4890Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237828425C= | CA1148225098 | RYR2 | c.*5727C= (n.*5727C=) c.14617C= (p.Gln4873=) c.14656C= (p.Gln4886=) c.6806C= c.14635C= (p.Gln4879=) c.14584C= (p.Gln4862=) n.1146C= c.14689C= (p.Gln4897=) c.14686C= (p.Gln4896=) c.14665C= (p.Gln4889=) c.14659C= (p.Gln4887=) c.14653C= (p.Gln4885=) c.14629C= (p.Gln4877=) c.14452C= (p.Gln4818=) c.14596C= (p.Gln4866=) c.14668C= (p.Gln4890=) | |
| 1 | g.237828425C>G | CA345429409 | RYR2 | c.*5727C>G (n.*5727C>G) c.14617C>G (p.Gln4873Glu) c.14656C>G (p.Gln4886Glu) c.6806C>G c.14635C>G (p.Gln4879Glu) c.14584C>G (p.Gln4862Glu) n.1146C>G c.14689C>G (p.Gln4897Glu) c.14686C>G (p.Gln4896Glu) c.14665C>G (p.Gln4889Glu) c.14659C>G (p.Gln4887Glu) c.14653C>G (p.Gln4885Glu) c.14629C>G (p.Gln4877Glu) c.14452C>G (p.Gln4818Glu) c.14596C>G (p.Gln4866Glu) c.14668C>G (p.Gln4890Glu) | |
| 1 | g.237828425C>T | CA345429411 | RYR2 | c.*5727C>T (n.*5727C>T) c.14617C>T (p.Gln4873Ter) c.14656C>T (p.Gln4886Ter) c.6806C>T c.14635C>T (p.Gln4879Ter) c.14584C>T (p.Gln4862Ter) n.1146C>T c.14689C>T (p.Gln4897Ter) c.14686C>T (p.Gln4896Ter) c.14665C>T (p.Gln4889Ter) c.14659C>T (p.Gln4887Ter) c.14653C>T (p.Gln4885Ter) c.14629C>T (p.Gln4877Ter) c.14452C>T (p.Gln4818Ter) c.14596C>T (p.Gln4866Ter) c.14668C>T (p.Gln4890Ter) | |
| 1 | g.237828426A>C | CA345429412 | RYR2 | c.*5728A>C (n.*5728A>C) c.14618A>C (p.Gln4873Pro) c.14657A>C (p.Gln4886Pro) c.6807A>C c.14636A>C (p.Gln4879Pro) c.14585A>C (p.Gln4862Pro) n.1147A>C c.14690A>C (p.Gln4897Pro) c.14687A>C (p.Gln4896Pro) c.14666A>C (p.Gln4889Pro) c.14660A>C (p.Gln4887Pro) c.14654A>C (p.Gln4885Pro) c.14630A>C (p.Gln4877Pro) c.14453A>C (p.Gln4818Pro) c.14597A>C (p.Gln4866Pro) c.14669A>C (p.Gln4890Pro) | |
| 1 | g.237828426A>G | CA345429413 | RYR2 | c.*5728A>G (n.*5728A>G) c.14618A>G (p.Gln4873Arg) c.14657A>G (p.Gln4886Arg) c.6807A>G c.14636A>G (p.Gln4879Arg) c.14585A>G (p.Gln4862Arg) n.1147A>G c.14690A>G (p.Gln4897Arg) c.14687A>G (p.Gln4896Arg) c.14666A>G (p.Gln4889Arg) c.14660A>G (p.Gln4887Arg) c.14654A>G (p.Gln4885Arg) c.14630A>G (p.Gln4877Arg) c.14453A>G (p.Gln4818Arg) c.14597A>G (p.Gln4866Arg) c.14669A>G (p.Gln4890Arg) | gnomAD v4 |
| 1 | g.237828426A>T | CA345429415 | RYR2 | c.*5728A>T (n.*5728A>T) c.14618A>T (p.Gln4873Leu) c.14657A>T (p.Gln4886Leu) c.6807A>T c.14636A>T (p.Gln4879Leu) c.14585A>T (p.Gln4862Leu) n.1147A>T c.14690A>T (p.Gln4897Leu) c.14687A>T (p.Gln4896Leu) c.14666A>T (p.Gln4889Leu) c.14660A>T (p.Gln4887Leu) c.14654A>T (p.Gln4885Leu) c.14630A>T (p.Gln4877Leu) c.14453A>T (p.Gln4818Leu) c.14597A>T (p.Gln4866Leu) c.14669A>T (p.Gln4890Leu) | gnomAD v4 |
| 1 | g.237828427A= | CA2487501695 | RYR2 | c.*5729A= (n.*5729A=) c.14619A= (p.Gln4873=) c.14658A= (p.Gln4886=) c.6808A= c.14637A= (p.Gln4879=) c.14586A= (p.Gln4862=) n.1148A= c.14691A= (p.Gln4897=) c.14688A= (p.Gln4896=) c.14667A= (p.Gln4889=) c.14661A= (p.Gln4887=) c.14655A= (p.Gln4885=) c.14631A= (p.Gln4877=) c.14454A= (p.Gln4818=) c.14598A= (p.Gln4866=) c.14670A= (p.Gln4890=) | |
| 1 | g.237828427A>C | CA345429418 | RYR2 | c.*5729A>C (n.*5729A>C) c.14619A>C (p.Gln4873His) c.14658A>C (p.Gln4886His) c.6808A>C c.14637A>C (p.Gln4879His) c.14586A>C (p.Gln4862His) n.1148A>C c.14691A>C (p.Gln4897His) c.14688A>C (p.Gln4896His) c.14667A>C (p.Gln4889His) c.14661A>C (p.Gln4887His) c.14655A>C (p.Gln4885His) c.14631A>C (p.Gln4877His) c.14454A>C (p.Gln4818His) c.14598A>C (p.Gln4866His) c.14670A>C (p.Gln4890His) | ClinVar dbSNP |
| 1 | g.237828427A>G | CA424051885 | RYR2 | c.*5729A>G (n.*5729A>G) c.14619A>G (p.Gln4873=) c.14658A>G (p.Gln4886=) c.6808A>G c.14637A>G (p.Gln4879=) c.14586A>G (p.Gln4862=) n.1148A>G c.14691A>G (p.Gln4897=) c.14688A>G (p.Gln4896=) c.14667A>G (p.Gln4889=) c.14661A>G (p.Gln4887=) c.14655A>G (p.Gln4885=) c.14631A>G (p.Gln4877=) c.14454A>G (p.Gln4818=) c.14598A>G (p.Gln4866=) c.14670A>G (p.Gln4890=) | ClinVar dbSNP |
| 1 | g.237828427A>T | CA345429416 | RYR2 | c.*5729A>T (n.*5729A>T) c.14619A>T (p.Gln4873His) c.14658A>T (p.Gln4886His) c.6808A>T c.14637A>T (p.Gln4879His) c.14586A>T (p.Gln4862His) n.1148A>T c.14691A>T (p.Gln4897His) c.14688A>T (p.Gln4896His) c.14667A>T (p.Gln4889His) c.14661A>T (p.Gln4887His) c.14655A>T (p.Gln4885His) c.14631A>T (p.Gln4877His) c.14454A>T (p.Gln4818His) c.14598A>T (p.Gln4866His) c.14670A>T (p.Gln4890His) |