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 |
|---|---|---|---|---|---|
| 19 | g.38485679_38485763del | CA2814345561 | RYR1 | c.5024_5108del (p.Leu1675GlnfsTer?) c.5021_5105del (p.Leu1674GlnfsTer?) n.5107_5191del | |
| 19 | g.38485738C>A | CA405653689 | RYR1 | c.5083C>A (p.His1695Asn) c.5080C>A (p.His1694Asn) n.5166C>A | |
| 19 | g.38485738C>G | CA405653692 | RYR1 | c.5083C>G (p.His1695Asp) c.5080C>G (p.His1694Asp) n.5166C>G | |
| 19 | g.38485738C>T | CA405653694 | RYR1 | c.5083C>T (p.His1695Tyr) c.5080C>T (p.His1694Tyr) n.5166C>T | dbSNP gnomAD v4 |
| 19 | g.38485739A= | CA2335046222 | RYR1 | c.5084A= (p.His1695=) c.5081A= (p.His1694=) n.5167A= | |
| 19 | g.38485739A>C | CA405653695 | RYR1 | c.5084A>C (p.His1695Pro) c.5081A>C (p.His1694Pro) n.5167A>C | |
| 19 | g.38485739A>G | CA405653696 | RYR1 | c.5084A>G (p.His1695Arg) c.5081A>G (p.His1694Arg) n.5167A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485739A>T | CA405653697 | RYR1 | c.5084A>T (p.His1695Leu) c.5081A>T (p.His1694Leu) n.5167A>T | |
| 19 | g.38485740C>A | CA405653698 | RYR1 | c.5085C>A (p.His1695Gln) c.5082C>A (p.His1694Gln) n.5168C>A | |
| 19 | g.38485740C= | CA2335046224 | RYR1 | c.5085C= (p.His1695=) c.5082C= (p.His1694=) n.5168C= | |
| 19 | g.38485740C>G | CA405653700 | RYR1 | c.5085C>G (p.His1695Gln) c.5082C>G (p.His1694Gln) n.5168C>G | |
| 19 | g.38485740C>T | CA066661 | RYR1 | c.5085C>T (p.His1695=) c.5082C>T (p.His1694=) n.5168C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485741G>A | CA405653701 | RYR1 | c.5086G>A (p.Ala1696Thr) c.5083G>A (p.Ala1695Thr) n.5169G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485741G>C | CA405653702 | RYR1 | c.5086G>C (p.Ala1696Pro) c.5083G>C (p.Ala1695Pro) n.5169G>C | |
| 19 | g.38485741G= | CA2335046225 | RYR1 | c.5086G= (p.Ala1696=) c.5083G= (p.Ala1695=) n.5169G= | |
| 19 | g.38485741G>T | CA405653703 | RYR1 | c.5086G>T (p.Ala1696Ser) c.5083G>T (p.Ala1695Ser) n.5169G>T | gnomAD v4 |
| 19 | g.38485742C>A | CA405653709 | RYR1 | c.5087C>A (p.Ala1696Asp) c.5084C>A (p.Ala1695Asp) n.5170C>A | |
| 19 | g.38485742C>G | CA405653711 | RYR1 | c.5087C>G (p.Ala1696Gly) c.5084C>G (p.Ala1695Gly) n.5170C>G | |
| 19 | g.38485742C>T | CA405653706 | RYR1 | c.5087C>T (p.Ala1696Val) c.5084C>T (p.Ala1695Val) n.5170C>T | gnomAD v4 |
| 19 | g.38485743C>A | CA507238662 | RYR1 | c.5088C>A (p.Ala1696=) c.5085C>A (p.Ala1695=) n.5171C>A | |
| 19 | g.38485743C>G | CA507238663 | RYR1 | c.5088C>G (p.Ala1696=) c.5085C>G (p.Ala1695=) n.5171C>G | gnomAD v4 |
| 19 | g.38485743C>T | CA081706 | RYR1 | c.5088C>T (p.Ala1696=) c.5085C>T (p.Ala1695=) n.5171C>T | |
| 19 | g.38485744C>A | CA405653716 | RYR1 | c.5089C>A (p.Leu1697Met) c.5086C>A (p.Leu1696Met) n.5172C>A | |
| 19 | g.38485744C>G | CA405653714 | RYR1 | c.5089C>G (p.Leu1697Val) c.5086C>G (p.Leu1696Val) n.5172C>G | |
| 19 | g.38485744C>T | CA507238665 | RYR1 | c.5089C>T (p.Leu1697=) c.5086C>T (p.Leu1696=) n.5172C>T | ClinVar |
| 19 | g.38485745T>A | CA405653717 | RYR1 | c.5090T>A (p.Leu1697Gln) c.5087T>A (p.Leu1696Gln) n.5173T>A | |
| 19 | g.38485745T>C | CA405653719 | RYR1 | c.5090T>C (p.Leu1697Pro) c.5087T>C (p.Leu1696Pro) n.5173T>C | |
| 19 | g.38485745T>G | CA405653723 | RYR1 | c.5090T>G (p.Leu1697Arg) c.5087T>G (p.Leu1696Arg) n.5173T>G | |
| 19 | g.38485746G>A | CA507238666 | RYR1 | c.5091G>A (p.Leu1697=) c.5088G>A (p.Leu1696=) n.5174G>A | gnomAD v4 |
| 19 | g.38485746G>C | CA507238667 | RYR1 | c.5091G>C (p.Leu1697=) c.5088G>C (p.Leu1696=) n.5174G>C | |
| 19 | g.38485746G>T | CA507238668 | RYR1 | c.5091G>T (p.Leu1697=) c.5088G>T (p.Leu1696=) n.5174G>T | gnomAD v4 |
| 19 | g.38485747G>A | CA066664 | RYR1 | c.5092G>A (p.Glu1698Lys) c.5089G>A (p.Glu1697Lys) n.5175G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485747G>C | CA405653725 | RYR1 | c.5092G>C (p.Glu1698Gln) c.5089G>C (p.Glu1697Gln) n.5175G>C | |
| 19 | g.38485747G= | CA2335046228 | RYR1 | c.5092G= (p.Glu1698=) c.5089G= (p.Glu1697=) n.5175G= | |
| 19 | g.38485747G>T | CA405653726 | RYR1 | c.5092G>T (p.Glu1698Ter) c.5089G>T (p.Glu1697Ter) n.5175G>T | gnomAD v4 |
| 19 | g.38485748A>C | CA405653727 | RYR1 | c.5093A>C (p.Glu1698Ala) c.5090A>C (p.Glu1697Ala) n.5176A>C | |
| 19 | g.38485748A>G | CA405653728 | RYR1 | c.5093A>G (p.Glu1698Gly) c.5090A>G (p.Glu1697Gly) n.5176A>G | |
| 19 | g.38485748A>T | CA405653729 | RYR1 | c.5093A>T (p.Glu1698Val) c.5090A>T (p.Glu1697Val) n.5176A>T | |
| 19 | g.38485749G>A | CA507238670 | RYR1 | c.5094G>A (p.Glu1698=) c.5091G>A (p.Glu1697=) n.5177G>A | |
| 19 | g.38485749G>C | CA405653730 | RYR1 | c.5094G>C (p.Glu1698Asp) c.5091G>C (p.Glu1697Asp) n.5177G>C | |
| 19 | g.38485749G>T | CA405653732 | RYR1 | c.5094G>T (p.Glu1698Asp) c.5091G>T (p.Glu1697Asp) n.5177G>T | |
| 19 | g.38485750G>A | CA081707 | RYR1 | c.5095G>A (p.Asp1699Asn) c.5092G>A (p.Asp1698Asn) n.5178G>A | COSMIC |
| 19 | g.38485750G>C | CA405653741 | RYR1 | c.5095G>C (p.Asp1699His) c.5092G>C (p.Asp1698His) n.5178G>C | |
| 19 | g.38485750G= | CA2335046230 | RYR1 | c.5095G= (p.Asp1699=) c.5092G= (p.Asp1698=) n.5178G= | |
| 19 | g.38485750G>T | CA405653735 | RYR1 | c.5095G>T (p.Asp1699Tyr) c.5092G>T (p.Asp1698Tyr) n.5178G>T | dbSNP gnomAD v4 |
| 19 | g.38485751A= | CA2335046232 | RYR1 | c.5096A= (p.Asp1699=) c.5093A= (p.Asp1698=) n.5179A= | |
| 19 | g.38485751A>C | CA405653747 | RYR1 | c.5096A>C (p.Asp1699Ala) c.5093A>C (p.Asp1698Ala) n.5179A>C | |
| 19 | g.38485751A>G | CA405653750 | RYR1 | c.5096A>G (p.Asp1699Gly) c.5093A>G (p.Asp1698Gly) n.5179A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485751A>T | CA308093058 | RYR1 | c.5096A>T (p.Asp1699Val) c.5093A>T (p.Asp1698Val) n.5179A>T | dbSNP |
| 19 | g.38485751_38485752delinsGA | CA2697556499 | RYR1 | c.5096_5097delinsGA (p.Asp1699Gly) c.5093_5094delinsGA (p.Asp1698Gly) n.5179_5180delinsGA | ClinVar |
| 19 | g.38485752C>A | CA405653752 | RYR1 | c.5097C>A (p.Asp1699Glu) c.5094C>A (p.Asp1698Glu) n.5180C>A | gnomAD v4 |
| 19 | g.38485752C= | CA2335046234 | RYR1 | c.5097C= (p.Asp1699=) c.5094C= (p.Asp1698=) n.5180C= | |
| 19 | g.38485752C>G | CA405653755 | RYR1 | c.5097C>G (p.Asp1699Glu) c.5094C>G (p.Asp1698Glu) n.5180C>G | gnomAD v4 |
| 19 | g.38485752C>T | CA066668 | RYR1 | c.5097C>T (p.Asp1699=) c.5094C>T (p.Asp1698=) n.5180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485753G>A | CA066671 | RYR1 | c.5098G>A (p.Ala1700Thr) c.5095G>A (p.Ala1699Thr) n.5181G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485753G>C | CA405653762 | RYR1 | c.5098G>C (p.Ala1700Pro) c.5095G>C (p.Ala1699Pro) n.5181G>C | |
| 19 | g.38485753G= | CA2335046236 | RYR1 | c.5098G= (p.Ala1700=) c.5095G= (p.Ala1699=) n.5181G= | |
| 19 | g.38485753G>T | CA405653758 | RYR1 | c.5098G>T (p.Ala1700Ser) c.5095G>T (p.Ala1699Ser) n.5181G>T | gnomAD v4 |
| 19 | g.38485754C>A | CA405653764 | RYR1 | c.5099C>A (p.Ala1700Glu) c.5096C>A (p.Ala1699Glu) n.5182C>A | |
| 19 | g.38485754C= | CA2335046243 | RYR1 | c.5099C= (p.Ala1700=) c.5096C= (p.Ala1699=) n.5182C= | |
| 19 | g.38485754C>G | CA066674 | RYR1 | c.5099C>G (p.Ala1700Gly) c.5096C>G (p.Ala1699Gly) n.5182C>G | dbSNP ExAC gnomAD v4 |
| 19 | g.38485754C>T | CA405653767 | RYR1 | c.5099C>T (p.Ala1700Val) c.5096C>T (p.Ala1699Val) n.5182C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485755G>A | CA066678 | RYR1 | c.5100G>A (p.Ala1700=) c.5097G>A (p.Ala1699=) n.5183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485755G>C | CA507238675 | RYR1 | c.5100G>C (p.Ala1700=) c.5097G>C (p.Ala1699=) n.5183G>C | ClinVar dbSNP |
| 19 | g.38485755G= | CA2335046246 | RYR1 | c.5100G= (p.Ala1700=) c.5097G= (p.Ala1699=) n.5183G= | |
| 19 | g.38485755G>T | CA507238673 | RYR1 | c.5100G>T (p.Ala1700=) c.5097G>T (p.Ala1699=) n.5183G>T | |
| 19 | g.38485756C>A | CA405653774 | RYR1 | c.5101C>A (p.His1701Asn) c.5098C>A (p.His1700Asn) n.5184C>A | |
| 19 | g.38485756C= | CA2335046250 | RYR1 | c.5101C= (p.His1701=) c.5098C= (p.His1700=) n.5184C= | |
| 19 | g.38485756C>G | CA405653773 | RYR1 | c.5101C>G (p.His1701Asp) c.5098C>G (p.His1700Asp) n.5184C>G | |
| 19 | g.38485756C>T | CA405653770 | RYR1 | c.5101C>T (p.His1701Tyr) c.5098C>T (p.His1700Tyr) n.5184C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485757A= | CA2335046252 | RYR1 | c.5102A= (p.His1701=) c.5099A= (p.His1700=) n.5185A= | |
| 19 | g.38485757A>C | CA405653775 | RYR1 | c.5102A>C (p.His1701Pro) c.5099A>C (p.His1700Pro) n.5185A>C | dbSNP |
| 19 | g.38485757A>G | CA405653776 | RYR1 | c.5102A>G (p.His1701Arg) c.5099A>G (p.His1700Arg) n.5185A>G | |
| 19 | g.38485757A>T | CA405653777 | RYR1 | c.5102A>T (p.His1701Leu) c.5099A>T (p.His1700Leu) n.5185A>T | |
| 19 | g.38485758C>A | CA405653778 | RYR1 | c.5103C>A (p.His1701Gln) c.5100C>A (p.His1700Gln) n.5186C>A | |
| 19 | g.38485758C= | CA2335046211 | RYR1 | c.5103C= (p.His1701=) c.5100C= (p.His1700=) n.5186C= | |
| 19 | g.38485758C>G | CA405653779 | RYR1 | c.5103C>G (p.His1701Gln) c.5100C>G (p.His1700Gln) n.5186C>G | |
| 19 | g.38485758C>T | CA507238677 | RYR1 | c.5103C>T (p.His1701=) c.5100C>T (p.His1700=) n.5186C>T | dbSNP |
| 19 | g.38485759C>A | CA405653782 | RYR1 | c.5104C>A (p.Leu1702Met) c.5101C>A (p.Leu1701Met) n.5187C>A | |
| 19 | g.38485759C>G | CA405653783 | RYR1 | c.5104C>G (p.Leu1702Val) c.5101C>G (p.Leu1701Val) n.5187C>G | |
| 19 | g.38485759C>T | CA507238678 | RYR1 | c.5104C>T (p.Leu1702=) c.5101C>T (p.Leu1701=) n.5187C>T | |
| 19 | g.38485760T>A | CA405653784 | RYR1 | c.5105T>A (p.Leu1702Gln) c.5102T>A (p.Leu1701Gln) n.5188T>A | |
| 19 | g.38485760T>C | CA405653785 | RYR1 | c.5105T>C (p.Leu1702Pro) c.5102T>C (p.Leu1701Pro) n.5188T>C | |
| 19 | g.38485760T>G | CA405653786 | RYR1 | c.5105T>G (p.Leu1702Arg) c.5102T>G (p.Leu1701Arg) n.5188T>G | |
| 19 | g.38485761G>A | CA507238679 | RYR1 | c.5106G>A (p.Leu1702=) c.5103G>A (p.Leu1701=) n.5189G>A | dbSNP |
| 19 | g.38485761G>C | CA507238681 | RYR1 | c.5106G>C (p.Leu1702=) c.5103G>C (p.Leu1701=) n.5189G>C | |
| 19 | g.38485761G= | CA2335046212 | RYR1 | c.5106G= (p.Leu1702=) c.5103G= (p.Leu1701=) n.5189G= | |
| 19 | g.38485761G>T | CA308093087 | RYR1 | c.5106G>T (p.Leu1702=) c.5103G>T (p.Leu1701=) n.5189G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485762C>A | CA405653788 | RYR1 | c.5107C>A (p.Pro1703Thr) c.5104C>A (p.Pro1702Thr) n.5190C>A | |
| 19 | g.38485762C= | CA2335046214 | RYR1 | c.5107C= (p.Pro1703=) c.5104C= (p.Pro1702=) n.5190C= | |
| 19 | g.38485762C>G | CA405653790 | RYR1 | c.5107C>G (p.Pro1703Ala) c.5104C>G (p.Pro1702Ala) n.5190C>G | |
| 19 | g.38485762C>T | CA405653792 | RYR1 | c.5107C>T (p.Pro1703Ser) c.5104C>T (p.Pro1702Ser) n.5190C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485763C>A | CA405653801 | RYR1 | c.5108C>A (p.Pro1703Gln) c.5105C>A (p.Pro1702Gln) n.5191C>A | |
| 19 | g.38485763C>G | CA405653803 | RYR1 | c.5108C>G (p.Pro1703Arg) c.5105C>G (p.Pro1702Arg) n.5191C>G | |
| 19 | g.38485763C>T | CA405653797 | RYR1 | c.5108C>T (p.Pro1703Leu) c.5105C>T (p.Pro1702Leu) n.5191C>T | gnomAD v4 |
| 19 | g.38485764A= | CA2335046217 | RYR1 | c.5109A= (p.Pro1703=) c.5106A= (p.Pro1702=) n.5192A= | |
| 19 | g.38485764A>C | CA066681 | RYR1 | c.5109A>C (p.Pro1703=) c.5106A>C (p.Pro1702=) n.5192A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485764A>G | CA507238684 | RYR1 | c.5109A>G (p.Pro1703=) c.5106A>G (p.Pro1702=) n.5192A>G | |
| 19 | g.38485764A>T | CA507238685 | RYR1 | c.5109A>T (p.Pro1703=) c.5106A>T (p.Pro1702=) n.5192A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485765G>A | CA024481 | RYR1 | c.5110G>A (p.Gly1704Ser) c.5107G>A (p.Gly1703Ser) n.5193G>A | ClinVar dbSNP |
| 19 | g.38485765G>C | CA405653806 | RYR1 | c.5110G>C (p.Gly1704Arg) c.5107G>C (p.Gly1703Arg) n.5193G>C | COSMIC |
| 19 | g.38485765G= | CA2335046218 | RYR1 | c.5110G= (p.Gly1704=) c.5107G= (p.Gly1703=) n.5193G= | |
| 19 | g.38485765G>T | CA405653807 | RYR1 | c.5110G>T (p.Gly1704Cys) c.5107G>T (p.Gly1703Cys) n.5193G>T | gnomAD v4 |
| 19 | g.38485766G>A | CA405653815 | RYR1 | c.5111G>A (p.Gly1704Asp) c.5108G>A (p.Gly1703Asp) n.5194G>A | gnomAD v4 |
| 19 | g.38485766G>C | CA405653811 | RYR1 | c.5111G>C (p.Gly1704Ala) c.5108G>C (p.Gly1703Ala) n.5194G>C | |
| 19 | g.38485766G>T | CA405653809 | RYR1 | c.5111G>T (p.Gly1704Val) c.5108G>T (p.Gly1703Val) n.5194G>T | gnomAD v4 |
| 19 | g.38485767C>A | CA507238688 | RYR1 | c.5112C>A (p.Gly1704=) c.5109C>A (p.Gly1703=) n.5195C>A | |
| 19 | g.38485767C= | CA2335046221 | RYR1 | c.5112C= (p.Gly1704=) c.5109C= (p.Gly1703=) n.5195C= | |
| 19 | g.38485767C>G | CA507238689 | RYR1 | c.5112C>G (p.Gly1704=) c.5109C>G (p.Gly1703=) n.5195C>G | gnomAD v4 |
| 19 | g.38485767C>T | CA024483 | RYR1 | c.5112C>T (p.Gly1704=) c.5109C>T (p.Gly1703=) n.5195C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485768C>A | CA405653818 | RYR1 | c.5113C>A (p.Pro1705Thr) c.5110C>A (p.Pro1704Thr) n.5196C>A | |
| 19 | g.38485768C>G | CA405653820 | RYR1 | c.5113C>G (p.Pro1705Ala) c.5110C>G (p.Pro1704Ala) n.5196C>G | |
| 19 | g.38485768C>T | CA405653822 | RYR1 | c.5113C>T (p.Pro1705Ser) c.5110C>T (p.Pro1704Ser) n.5196C>T | |
| 19 | g.38485769C>A | CA405653826 | RYR1 | c.5114C>A (p.Pro1705Gln) c.5111C>A (p.Pro1704Gln) n.5197C>A | |
| 19 | g.38485769C>G | CA405653828 | RYR1 | c.5114C>G (p.Pro1705Arg) c.5111C>G (p.Pro1704Arg) n.5197C>G | |
| 19 | g.38485769C>T | CA405653831 | RYR1 | c.5114C>T (p.Pro1705Leu) c.5111C>T (p.Pro1704Leu) n.5197C>T | |
| 19 | g.38485769_38485777delinsCACTGCGCG | CA2335046223 | RYR1 | c.5114_5122delinsCACTGCGCG (p.Pro1705=) c.5111_5119delinsCACTGCGCG (p.Pro1704=) n.5197_5205delinsCACTGCGCG | |
| 19 | g.38485770A= | CA2335046226 | RYR1 | c.5115A= (p.Pro1705=) c.5112A= (p.Pro1704=) n.5198A= | |
| 19 | g.38485770A>C | CA507238691 | RYR1 | c.5115A>C (p.Pro1705=) c.5112A>C (p.Pro1704=) n.5198A>C | |
| 19 | g.38485770A>G | CA507238693 | RYR1 | c.5115A>G (p.Pro1705=) c.5112A>G (p.Pro1704=) n.5198A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485770A>T | CA507238692 | RYR1 | c.5115A>T (p.Pro1705=) c.5112A>T (p.Pro1704=) n.5198A>T | |
| 19 | g.38485770_38485777del | CA633066586 | RYR1 | c.5115_5122del (p.Leu1706ArgfsTer4) c.5112_5119del (p.Leu1705ArgfsTer4) n.5198_5205del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485771C>A | CA405653833 | RYR1 | c.5116C>A (p.Leu1706Met) c.5113C>A (p.Leu1705Met) n.5199C>A | |
| 19 | g.38485771C= | CA2335046227 | RYR1 | c.5116C= (p.Leu1706=) c.5113C= (p.Leu1705=) n.5199C= | |
| 19 | g.38485771C>G | CA405653836 | RYR1 | c.5116C>G (p.Leu1706Val) c.5113C>G (p.Leu1705Val) n.5199C>G | |
| 19 | g.38485771C>T | CA507238695 | RYR1 | c.5116C>T (p.Leu1706=) c.5113C>T (p.Leu1705=) n.5199C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485772T>A | CA405653839 | RYR1 | c.5117T>A (p.Leu1706Gln) c.5114T>A (p.Leu1705Gln) n.5200T>A | |
| 19 | g.38485772T>C | CA405653842 | RYR1 | c.5117T>C (p.Leu1706Pro) c.5114T>C (p.Leu1705Pro) n.5200T>C | |
| 19 | g.38485772T>G | CA405653840 | RYR1 | c.5117T>G (p.Leu1706Arg) c.5114T>G (p.Leu1705Arg) n.5200T>G | |
| 19 | g.38485773G>A | CA507238696 | RYR1 | c.5118G>A (p.Leu1706=) c.5115G>A (p.Leu1705=) n.5201G>A | ClinVar dbSNP |
| 19 | g.38485773G>C | CA507238697 | RYR1 | c.5118G>C (p.Leu1706=) c.5115G>C (p.Leu1705=) n.5201G>C | |
| 19 | g.38485773G>T | CA507238698 | RYR1 | c.5118G>T (p.Leu1706=) c.5115G>T (p.Leu1705=) n.5201G>T | gnomAD v4 |
| 19 | g.38485774C>A | CA405653844 | RYR1 | c.5119C>A (p.Arg1707Ser) c.5116C>A (p.Arg1706Ser) n.5202C>A | |
| 19 | g.38485774C>G | CA405653848 | RYR1 | c.5119C>G (p.Arg1707Gly) c.5116C>G (p.Arg1706Gly) n.5202C>G | |
| 19 | g.38485774C>T | CA16622096 | RYR1 | c.5119C>T (p.Arg1707Cys) c.5116C>T (p.Arg1706Cys) n.5202C>T | ClinVar gnomAD v4 |
| 19 | g.38485775G>A | CA024486 | RYR1 | c.5120G>A (p.Arg1707His) c.5117G>A (p.Arg1706His) n.5203G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485775G>C | CA405653856 | RYR1 | c.5120G>C (p.Arg1707Pro) c.5117G>C (p.Arg1706Pro) n.5203G>C | |
| 19 | g.38485775G= | CA2335046229 | RYR1 | c.5120G= (p.Arg1707=) c.5117G= (p.Arg1706=) n.5203G= | |
| 19 | g.38485775G>T | CA405653853 | RYR1 | c.5120G>T (p.Arg1707Leu) c.5117G>T (p.Arg1706Leu) n.5203G>T | |
| 19 | g.38485776C>A | CA507238700 | RYR1 | c.5121C>A (p.Arg1707=) c.5118C>A (p.Arg1706=) n.5204C>A | |
| 19 | g.38485776C= | CA2335046231 | RYR1 | c.5121C= (p.Arg1707=) c.5118C= (p.Arg1706=) n.5204C= | |
| 19 | g.38485776C>G | CA507238701 | RYR1 | c.5121C>G (p.Arg1707=) c.5118C>G (p.Arg1706=) n.5204C>G | |
| 19 | g.38485776C>T | CA066689 | RYR1 | c.5121C>T (p.Arg1707=) c.5118C>T (p.Arg1706=) n.5204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485777G>A | CA308093167 | RYR1 | c.5122G>A (p.Ala1708Thr) c.5119G>A (p.Ala1707Thr) n.5205G>A | dbSNP gnomAD v4 |
| 19 | g.38485777G>C | CA405653861 | RYR1 | c.5122G>C (p.Ala1708Pro) c.5119G>C (p.Ala1707Pro) n.5205G>C | |
| 19 | g.38485777G= | CA2335046233 | RYR1 | c.5122G= (p.Ala1708=) c.5119G= (p.Ala1707=) n.5205G= | |
| 19 | g.38485777G>T | CA308093185 | RYR1 | c.5122G>T (p.Ala1708Ser) c.5119G>T (p.Ala1707Ser) n.5205G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485778C>A | CA405653864 | RYR1 | c.5123C>A (p.Ala1708Glu) c.5120C>A (p.Ala1707Glu) n.5206C>A | |
| 19 | g.38485778C>G | CA405653866 | RYR1 | c.5123C>G (p.Ala1708Gly) c.5120C>G (p.Ala1707Gly) n.5206C>G | |
| 19 | g.38485778C>T | CA405653868 | RYR1 | c.5123C>T (p.Ala1708Val) c.5120C>T (p.Ala1707Val) n.5206C>T | |
| 19 | g.38485779A= | CA2335046235 | RYR1 | c.5124A= (p.Ala1708=) c.5121A= (p.Ala1707=) n.5207A= | |
| 19 | g.38485779A>C | CA507238702 | RYR1 | c.5124A>C (p.Ala1708=) c.5121A>C (p.Ala1707=) n.5207A>C | |
| 19 | g.38485779A>G | CA308093198 | RYR1 | c.5124A>G (p.Ala1708=) c.5121A>G (p.Ala1707=) n.5207A>G | dbSNP |
| 19 | g.38485779A>T | CA507238703 | RYR1 | c.5124A>T (p.Ala1708=) c.5121A>T (p.Ala1707=) n.5207A>T | |
| 19 | g.38485780G>A | CA405653871 | RYR1 | c.5125G>A (p.Gly1709Ser) c.5122G>A (p.Gly1708Ser) n.5208G>A | |
| 19 | g.38485780G>C | CA405653872 | RYR1 | c.5125G>C (p.Gly1709Arg) c.5122G>C (p.Gly1708Arg) n.5208G>C | |
| 19 | g.38485780G>T | CA405653875 | RYR1 | c.5125G>T (p.Gly1709Cys) c.5122G>T (p.Gly1708Cys) n.5208G>T | |
| 19 | g.38485781G>A | CA405653882 | RYR1 | c.5126G>A (p.Gly1709Asp) c.5123G>A (p.Gly1708Asp) n.5209G>A | dbSNP |
| 19 | g.38485781G>C | CA405653880 | RYR1 | c.5126G>C (p.Gly1709Ala) c.5123G>C (p.Gly1708Ala) n.5209G>C | |
| 19 | g.38485781G= | CA2335046237 | RYR1 | c.5126G= (p.Gly1709=) c.5123G= (p.Gly1708=) n.5209G= | |
| 19 | g.38485781G>T | CA405653878 | RYR1 | c.5126G>T (p.Gly1709Val) c.5123G>T (p.Gly1708Val) n.5209G>T | |
| 19 | g.38485782C>A | CA507238704 | RYR1 | c.5127C>A (p.Gly1709=) c.5124C>A (p.Gly1708=) n.5210C>A | |
| 19 | g.38485782C= | CA2335046238 | RYR1 | c.5127C= (p.Gly1709=) c.5124C= (p.Gly1708=) n.5210C= | |
| 19 | g.38485782C>G | CA507238705 | RYR1 | c.5127C>G (p.Gly1709=) c.5124C>G (p.Gly1708=) n.5210C>G | |
| 19 | g.38485782C>T | CA507238706 | RYR1 | c.5127C>T (p.Gly1709=) c.5124C>T (p.Gly1708=) n.5210C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485783T>A | CA405653885 | RYR1 | c.5128T>A (p.Tyr1710Asn) c.5125T>A (p.Tyr1709Asn) n.5211T>A | |
| 19 | g.38485783T>C | CA405653888 | RYR1 | c.5128T>C (p.Tyr1710His) c.5125T>C (p.Tyr1709His) n.5211T>C | |
| 19 | g.38485783T>G | CA405653890 | RYR1 | c.5128T>G (p.Tyr1710Asp) c.5125T>G (p.Tyr1709Asp) n.5211T>G | |
| 19 | g.38485784A>C | CA405653894 | RYR1 | c.5129A>C (p.Tyr1710Ser) c.5126A>C (p.Tyr1709Ser) n.5212A>C | |
| 19 | g.38485784A>G | CA405653896 | RYR1 | c.5129A>G (p.Tyr1710Cys) c.5126A>G (p.Tyr1709Cys) n.5212A>G | gnomAD v4 |
| 19 | g.38485784A>T | CA405653899 | RYR1 | c.5129A>T (p.Tyr1710Phe) c.5126A>T (p.Tyr1709Phe) n.5212A>T | |
| 19 | g.38485785C>A | CA405653902 | RYR1 | c.5130C>A (p.Tyr1710Ter) c.5127C>A (p.Tyr1709Ter) n.5213C>A | |
| 19 | g.38485785C>G | CA405653903 | RYR1 | c.5130C>G (p.Tyr1710Ter) c.5127C>G (p.Tyr1709Ter) n.5213C>G | |
| 19 | g.38485785C>T | CA507238707 | RYR1 | c.5130C>T (p.Tyr1710=) c.5127C>T (p.Tyr1709=) n.5213C>T | |
| 19 | g.38485786T>A | CA405653906 | RYR1 | c.5131T>A (p.Tyr1711Asn) c.5128T>A (p.Tyr1710Asn) n.5214T>A | |
| 19 | g.38485786T>C | CA405653908 | RYR1 | c.5131T>C (p.Tyr1711His) c.5128T>C (p.Tyr1710His) n.5214T>C | |
| 19 | g.38485786T>G | CA405653911 | RYR1 | c.5131T>G (p.Tyr1711Asp) c.5128T>G (p.Tyr1710Asp) n.5214T>G | |
| 19 | g.38485787A= | CA2335046239 | RYR1 | c.5132A= (p.Tyr1711=) c.5129A= (p.Tyr1710=) n.5215A= | |
| 19 | g.38485787A>C | CA16607793 | RYR1 | c.5132A>C (p.Tyr1711Ser) c.5129A>C (p.Tyr1710Ser) n.5215A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485787A>G | CA066692 | RYR1 | c.5132A>G (p.Tyr1711Cys) c.5129A>G (p.Tyr1710Cys) n.5215A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485787A>T | CA066695 | RYR1 | c.5132A>T (p.Tyr1711Phe) c.5129A>T (p.Tyr1710Phe) n.5215A>T | dbSNP ExAC |
| 19 | g.38485788T>A | CA405653923 | RYR1 | c.5133T>A (p.Tyr1711Ter) c.5130T>A (p.Tyr1710Ter) n.5216T>A | |
| 19 | g.38485788T>C | CA507238712 | RYR1 | c.5133T>C (p.Tyr1711=) c.5130T>C (p.Tyr1710=) n.5216T>C | |
| 19 | g.38485788T>G | CA405653925 | RYR1 | c.5133T>G (p.Tyr1711Ter) c.5130T>G (p.Tyr1710Ter) n.5216T>G | |
| 19 | g.38485789G>A | CA405653928 | RYR1 | c.5134G>A (p.Asp1712Asn) c.5131G>A (p.Asp1711Asn) n.5217G>A | ClinVar dbSNP |
| 19 | g.38485789G>C | CA405653930 | RYR1 | c.5134G>C (p.Asp1712His) c.5131G>C (p.Asp1711His) n.5217G>C | |
| 19 | g.38485789G>T | CA405653931 | RYR1 | c.5134G>T (p.Asp1712Tyr) c.5131G>T (p.Asp1711Tyr) n.5217G>T | |
| 19 | g.38485790A>C | CA405653933 | RYR1 | c.5135A>C (p.Asp1712Ala) c.5132A>C (p.Asp1711Ala) n.5218A>C | |
| 19 | g.38485790A>G | CA081716 | RYR1 | c.5135A>G (p.Asp1712Gly) c.5132A>G (p.Asp1711Gly) n.5218A>G | |
| 19 | g.38485790A>T | CA081717 | RYR1 | c.5135A>T (p.Asp1712Val) c.5132A>T (p.Asp1711Val) n.5218A>T | |
| 19 | g.38485790_38485793delinsACCT | CA2335046240 | RYR1 | c.5135_5138delinsACCT (p.Asp1712=) c.5132_5135delinsACCT (p.Asp1711=) n.5218_5221delinsACCT | |
| 19 | g.38485791C>A | CA405653935 | RYR1 | c.5136C>A (p.Asp1712Glu) c.5133C>A (p.Asp1711Glu) n.5219C>A | |
| 19 | g.38485791C= | CA2335046241 | RYR1 | c.5136C= (p.Asp1712=) c.5133C= (p.Asp1711=) n.5219C= | |
| 19 | g.38485791C>G | CA405653936 | RYR1 | c.5136C>G (p.Asp1712Glu) c.5133C>G (p.Asp1711Glu) n.5219C>G | |
| 19 | g.38485791C>T | CA507238717 | RYR1 | c.5136C>T (p.Asp1712=) c.5133C>T (p.Asp1711=) n.5219C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485795_38485797del | CA633066587 | RYR1 | c.5140_5142del (p.Leu1714del) c.5137_5139del (p.Leu1713del) n.5223_5225del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485792C>A | CA405653937 | RYR1 | c.5137C>A (p.Leu1713Ile) c.5134C>A (p.Leu1712Ile) n.5220C>A | |
| 19 | g.38485792C= | CA2335046242 | RYR1 | c.5137C= (p.Leu1713=) c.5134C= (p.Leu1712=) n.5220C= | |
| 19 | g.38485792C>G | CA405653939 | RYR1 | c.5137C>G (p.Leu1713Val) c.5134C>G (p.Leu1712Val) n.5220C>G | dbSNP |
| 19 | g.38485792C>T | CA405653940 | RYR1 | c.5137C>T (p.Leu1713Phe) c.5134C>T (p.Leu1712Phe) n.5220C>T | |
| 19 | g.38485793T>A | CA405653941 | RYR1 | c.5138T>A (p.Leu1713His) c.5135T>A (p.Leu1712His) n.5221T>A | |
| 19 | g.38485793T>C | CA405653944 | RYR1 | c.5138T>C (p.Leu1713Pro) c.5135T>C (p.Leu1712Pro) n.5221T>C | |
| 19 | g.38485793T>G | CA405653942 | RYR1 | c.5138T>G (p.Leu1713Arg) c.5135T>G (p.Leu1712Arg) n.5221T>G | |
| 19 | g.38485794C>A | CA507238720 | RYR1 | c.5139C>A (p.Leu1713=) c.5136C>A (p.Leu1712=) n.5222C>A | |
| 19 | g.38485794C= | CA2335046244 | RYR1 | c.5139C= (p.Leu1713=) c.5136C= (p.Leu1712=) n.5222C= | |
| 19 | g.38485794C>G | CA507238722 | RYR1 | c.5139C>G (p.Leu1713=) c.5136C>G (p.Leu1712=) n.5222C>G | |
| 19 | g.38485794C>T | CA507238725 | RYR1 | c.5139C>T (p.Leu1713=) c.5136C>T (p.Leu1712=) n.5222C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485795C>A | CA405653946 | RYR1 | c.5140C>A (p.Leu1714Ile) c.5137C>A (p.Leu1713Ile) n.5223C>A | |
| 19 | g.38485795C>G | CA405653947 | RYR1 | c.5140C>G (p.Leu1714Val) c.5137C>G (p.Leu1713Val) n.5223C>G | |
| 19 | g.38485795C>T | CA405653949 | RYR1 | c.5140C>T (p.Leu1714Phe) c.5137C>T (p.Leu1713Phe) n.5223C>T | gnomAD v4 |
| 19 | g.38485796T>A | CA405653950 | RYR1 | c.5141T>A (p.Leu1714His) c.5138T>A (p.Leu1713His) n.5224T>A | |
| 19 | g.38485796T>C | CA405653951 | RYR1 | c.5141T>C (p.Leu1714Pro) c.5138T>C (p.Leu1713Pro) n.5224T>C | |
| 19 | g.38485796T>G | CA405653953 | RYR1 | c.5141T>G (p.Leu1714Arg) c.5138T>G (p.Leu1713Arg) n.5224T>G | |
| 19 | g.38485797C>A | CA507238728 | RYR1 | c.5142C>A (p.Leu1714=) c.5139C>A (p.Leu1713=) n.5225C>A | |
| 19 | g.38485797C= | CA2335046245 | RYR1 | c.5142C= (p.Leu1714=) c.5139C= (p.Leu1713=) n.5225C= | |
| 19 | g.38485797C>G | CA507238729 | RYR1 | c.5142C>G (p.Leu1714=) c.5139C>G (p.Leu1713=) n.5225C>G | |
| 19 | g.38485797C>T | CA308093225 | RYR1 | c.5142C>T (p.Leu1714=) c.5139C>T (p.Leu1713=) n.5225C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485798A= | CA2335046247 | RYR1 | c.5143A= (p.Ile1715=) c.5140A= (p.Ile1714=) n.5226A= | |
| 19 | g.38485798A>C | CA405653956 | RYR1 | c.5143A>C (p.Ile1715Leu) c.5140A>C (p.Ile1714Leu) n.5226A>C | gnomAD v4 |
| 19 | g.38485798A>G | CA405653957 | RYR1 | c.5143A>G (p.Ile1715Val) c.5140A>G (p.Ile1714Val) n.5226A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485798A>T | CA405653959 | RYR1 | c.5143A>T (p.Ile1715Phe) c.5140A>T (p.Ile1714Phe) n.5226A>T | |
| 19 | g.38485799T>A | CA405653963 | RYR1 | c.5144T>A (p.Ile1715Asn) c.5141T>A (p.Ile1714Asn) n.5227T>A | |
| 19 | g.38485799T>C | CA405653964 | RYR1 | c.5144T>C (p.Ile1715Thr) c.5141T>C (p.Ile1714Thr) n.5227T>C | |
| 19 | g.38485799T>G | CA405653961 | RYR1 | c.5144T>G (p.Ile1715Ser) c.5141T>G (p.Ile1714Ser) n.5227T>G | |
| 19 | g.38485800C>A | CA507238733 | RYR1 | c.5145C>A (p.Ile1715=) c.5142C>A (p.Ile1714=) n.5228C>A | gnomAD v4 |
| 19 | g.38485800C>G | CA405653965 | RYR1 | c.5145C>G (p.Ile1715Met) c.5142C>G (p.Ile1714Met) n.5228C>G | gnomAD v4 |
| 19 | g.38485800C>T | CA507238734 | RYR1 | c.5145C>T (p.Ile1715=) c.5142C>T (p.Ile1714=) n.5228C>T | |
| 19 | g.38485801A>C | CA405653967 | RYR1 | c.5146A>C (p.Ser1716Arg) c.5143A>C (p.Ser1715Arg) n.5229A>C | |
| 19 | g.38485801A>G | CA405653969 | RYR1 | c.5146A>G (p.Ser1716Gly) c.5143A>G (p.Ser1715Gly) n.5229A>G | gnomAD v4 |
| 19 | g.38485801A>T | CA405653971 | RYR1 | c.5146A>T (p.Ser1716Cys) c.5143A>T (p.Ser1715Cys) n.5229A>T | |
| 19 | g.38485802G>A | CA405653972 | RYR1 | c.5147G>A (p.Ser1716Asn) c.5144G>A (p.Ser1715Asn) n.5230G>A | |
| 19 | g.38485802G>C | CA405653973 | RYR1 | c.5147G>C (p.Ser1716Thr) c.5144G>C (p.Ser1715Thr) n.5230G>C | ClinVar |
| 19 | g.38485802G>T | CA405653975 | RYR1 | c.5147G>T (p.Ser1716Ile) c.5144G>T (p.Ser1715Ile) n.5230G>T | |
| 19 | g.38485803C>A | CA405653977 | RYR1 | c.5148C>A (p.Ser1716Arg) c.5145C>A (p.Ser1715Arg) n.5231C>A | |
| 19 | g.38485803C>G | CA405653979 | RYR1 | c.5148C>G (p.Ser1716Arg) c.5145C>G (p.Ser1715Arg) n.5231C>G | |
| 19 | g.38485803C>T | CA507238736 | RYR1 | c.5148C>T (p.Ser1716=) c.5145C>T (p.Ser1715=) n.5231C>T | ClinVar gnomAD v4 |
| 19 | g.38485804A>C | CA405653980 | RYR1 | c.5149A>C (p.Ile1717Leu) c.5146A>C (p.Ile1716Leu) n.5232A>C | |
| 19 | g.38485804A>G | CA405653981 | RYR1 | c.5149A>G (p.Ile1717Val) c.5146A>G (p.Ile1716Val) n.5232A>G | |
| 19 | g.38485804A>T | CA405653983 | RYR1 | c.5149A>T (p.Ile1717Phe) c.5146A>T (p.Ile1716Phe) n.5232A>T | |
| 19 | g.38485805T>A | CA405653985 | RYR1 | c.5150T>A (p.Ile1717Asn) c.5147T>A (p.Ile1716Asn) n.5233T>A | dbSNP gnomAD v4 |
| 19 | g.38485805T>C | CA405653986 | RYR1 | c.5150T>C (p.Ile1717Thr) c.5147T>C (p.Ile1716Thr) n.5233T>C | dbSNP |
| 19 | g.38485805T>G | CA405653987 | RYR1 | c.5150T>G (p.Ile1717Ser) c.5147T>G (p.Ile1716Ser) n.5233T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485805T= | CA2335046248 | RYR1 | c.5150T= (p.Ile1717=) c.5147T= (p.Ile1716=) n.5233T= | |
| 19 | g.38485806C>A | CA507238741 | RYR1 | c.5151C>A (p.Ile1717=) c.5148C>A (p.Ile1716=) n.5234C>A | |
| 19 | g.38485806C>G | CA405653989 | RYR1 | c.5151C>G (p.Ile1717Met) c.5148C>G (p.Ile1716Met) n.5234C>G | |
| 19 | g.38485806C>T | CA507238740 | RYR1 | c.5151C>T (p.Ile1717=) c.5148C>T (p.Ile1716=) n.5234C>T | gnomAD v4 |
| 19 | g.38485807C>A | CA405653991 | RYR1 | c.5152C>A (p.His1718Asn) c.5149C>A (p.His1717Asn) n.5235C>A | |
| 19 | g.38485807C>G | CA405653993 | RYR1 | c.5152C>G (p.His1718Asp) c.5149C>G (p.His1717Asp) n.5235C>G | |
| 19 | g.38485807C>T | CA405653994 | RYR1 | c.5152C>T (p.His1718Tyr) c.5149C>T (p.His1717Tyr) n.5235C>T | |
| 19 | g.38485808A= | CA2335046249 | RYR1 | c.5153A= (p.His1718=) c.5150A= (p.His1717=) n.5236A= | |
| 19 | g.38485808A>C | CA066701 | RYR1 | c.5153A>C (p.His1718Pro) c.5150A>C (p.His1717Pro) n.5236A>C | dbSNP ExAC gnomAD v2 |
| 19 | g.38485808A>G | CA405653996 | RYR1 | c.5153A>G (p.His1718Arg) c.5150A>G (p.His1717Arg) n.5236A>G | |
| 19 | g.38485808A>T | CA405653998 | RYR1 | c.5153A>T (p.His1718Leu) c.5150A>T (p.His1717Leu) n.5236A>T | |
| 19 | g.38485809C>A | CA405653999 | RYR1 | c.5154C>A (p.His1718Gln) c.5151C>A (p.His1717Gln) n.5237C>A | |
| 19 | g.38485809C>G | CA405654000 | RYR1 | c.5154C>G (p.His1718Gln) c.5151C>G (p.His1717Gln) n.5237C>G | |
| 19 | g.38485809C>T | CA507353151 | RYR1 | c.5154C>T (p.His1718=) c.5151C>T (p.His1717=) n.5237C>T | gnomAD v4 |
| 19 | g.38485810C>A | CA066705 | RYR1 | c.5155C>A (p.Leu1719Ile) c.5152C>A (p.Leu1718Ile) n.5238C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485810C= | CA2335046251 | RYR1 | c.5155C= (p.Leu1719=) c.5152C= (p.Leu1718=) n.5238C= | |
| 19 | g.38485810C>G | CA405654002 | RYR1 | c.5155C>G (p.Leu1719Val) c.5152C>G (p.Leu1718Val) n.5238C>G | |
| 19 | g.38485810C>T | CA405654003 | RYR1 | c.5155C>T (p.Leu1719Phe) c.5152C>T (p.Leu1718Phe) n.5238C>T | |
| 19 | g.38485811T>A | CA405654005 | RYR1 | c.5156T>A (p.Leu1719His) c.5153T>A (p.Leu1718His) n.5239T>A | |
| 19 | g.38485811T>C | CA405654006 | RYR1 | c.5156T>C (p.Leu1719Pro) c.5153T>C (p.Leu1718Pro) n.5239T>C | |
| 19 | g.38485811T>G | CA405654007 | RYR1 | c.5156T>G (p.Leu1719Arg) c.5153T>G (p.Leu1718Arg) n.5239T>G | |
| 19 | g.38485812C>A | CA507353155 | RYR1 | c.5157C>A (p.Leu1719=) c.5154C>A (p.Leu1718=) n.5240C>A | |
| 19 | g.38485812C= | CA2335046253 | RYR1 | c.5157C= (p.Leu1719=) c.5154C= (p.Leu1718=) n.5240C= | |
| 19 | g.38485812C>G | CA507353156 | RYR1 | c.5157C>G (p.Leu1719=) c.5154C>G (p.Leu1718=) n.5240C>G | |
| 19 | g.38485812C>T | CA066708 | RYR1 | c.5157C>T (p.Leu1719=) c.5154C>T (p.Leu1718=) n.5240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485813G>A | CA066711 | RYR1 | c.5158G>A (p.Glu1720Lys) c.5155G>A (p.Glu1719Lys) n.5241G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485813G>C | CA405654009 | RYR1 | c.5158G>C (p.Glu1720Gln) c.5155G>C (p.Glu1719Gln) n.5241G>C | |
| 19 | g.38485813G= | CA2335046254 | RYR1 | c.5158G= (p.Glu1720=) c.5155G= (p.Glu1719=) n.5241G= | |
| 19 | g.38485813G>T | CA405654010 | RYR1 | c.5158G>T (p.Glu1720Ter) c.5155G>T (p.Glu1719Ter) n.5241G>T | ClinVar gnomAD v4 |
| 19 | g.38485814A= | CA2335046255 | RYR1 | c.5159A= (p.Glu1720=) c.5156A= (p.Glu1719=) n.5242A= | |
| 19 | g.38485814A>C | CA405654011 | RYR1 | c.5159A>C (p.Glu1720Ala) c.5156A>C (p.Glu1719Ala) n.5242A>C | |
| 19 | g.38485814A>G | CA405654013 | RYR1 | c.5159A>G (p.Glu1720Gly) c.5156A>G (p.Glu1719Gly) n.5242A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485814A>T | CA405654015 | RYR1 | c.5159A>T (p.Glu1720Val) c.5156A>T (p.Glu1719Val) n.5242A>T | |
| 19 | g.38485815A= | CA2335046256 | RYR1 | c.5160A= (p.Glu1720=) c.5157A= (p.Glu1719=) n.5243A= | |
| 19 | g.38485815A>C | CA405654016 | RYR1 | c.5160A>C (p.Glu1720Asp) c.5157A>C (p.Glu1719Asp) n.5243A>C | |
| 19 | g.38485815A>G | CA507353157 | RYR1 | c.5160A>G (p.Glu1720=) c.5157A>G (p.Glu1719=) n.5243A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485815A>T | CA405654017 | RYR1 | c.5160A>T (p.Glu1720Asp) c.5157A>T (p.Glu1719Asp) n.5243A>T | |
| 19 | g.38485816A>C | CA405654018 | RYR1 | c.5161A>C (p.Ser1721Arg) c.5158A>C (p.Ser1720Arg) n.5244A>C | |
| 19 | g.38485816A>G | CA405654019 | RYR1 | c.5161A>G (p.Ser1721Gly) c.5158A>G (p.Ser1720Gly) n.5244A>G | |
| 19 | g.38485816A>T | CA405654020 | RYR1 | c.5161A>T (p.Ser1721Cys) c.5158A>T (p.Ser1720Cys) n.5244A>T | |
| 19 | g.38485817G>A | CA405654021 | RYR1 | c.5162G>A (p.Ser1721Asn) c.5159G>A (p.Ser1720Asn) n.5245G>A | gnomAD v4 |
| 19 | g.38485817G>C | CA405654023 | RYR1 | c.5162G>C (p.Ser1721Thr) c.5159G>C (p.Ser1720Thr) n.5245G>C | gnomAD v4 |
| 19 | g.38485817G>T | CA405654025 | RYR1 | c.5162G>T (p.Ser1721Ile) c.5159G>T (p.Ser1720Ile) n.5245G>T | |
| 19 | g.38485818T>A | CA405654027 | RYR1 | c.5163T>A (p.Ser1721Arg) c.5160T>A (p.Ser1720Arg) n.5246T>A | |
| 19 | g.38485818T>C | CA507353159 | RYR1 | c.5163T>C (p.Ser1721=) c.5160T>C (p.Ser1720=) n.5246T>C | dbSNP gnomAD v4 |
| 19 | g.38485818T>G | CA405654026 | RYR1 | c.5163T>G (p.Ser1721Arg) c.5160T>G (p.Ser1720Arg) n.5246T>G | |
| 19 | g.38485818T= | CA2335046257 | RYR1 | c.5163T= (p.Ser1721=) c.5160T= (p.Ser1720=) n.5246T= | |
| 19 | g.38485819G>A | CA405654028 | RYR1 | c.5164G>A (p.Ala1722Thr) c.5161G>A (p.Ala1721Thr) n.5247G>A | ClinVar |
| 19 | g.38485819G>C | CA405654029 | RYR1 | c.5164G>C (p.Ala1722Pro) c.5161G>C (p.Ala1721Pro) n.5247G>C | dbSNP |
| 19 | g.38485819G= | CA2335046258 | RYR1 | c.5164G= (p.Ala1722=) c.5161G= (p.Ala1721=) n.5247G= | |
| 19 | g.38485819G>T | CA405654031 | RYR1 | c.5164G>T (p.Ala1722Ser) c.5161G>T (p.Ala1721Ser) n.5247G>T | |
| 19 | g.38485820C>A | CA405654032 | RYR1 | c.5165C>A (p.Ala1722Asp) c.5162C>A (p.Ala1721Asp) n.5248C>A | |
| 19 | g.38485820C>G | CA405654033 | RYR1 | c.5165C>G (p.Ala1722Gly) c.5162C>G (p.Ala1721Gly) n.5248C>G | |
| 19 | g.38485820C>T | CA405654035 | RYR1 | c.5165C>T (p.Ala1722Val) c.5162C>T (p.Ala1721Val) n.5248C>T | |
| 19 | g.38485821C>A | CA507353163 | RYR1 | c.5166C>A (p.Ala1722=) c.5163C>A (p.Ala1721=) n.5249C>A | |
| 19 | g.38485821C= | CA2335046259 | RYR1 | c.5166C= (p.Ala1722=) c.5163C= (p.Ala1721=) n.5249C= | |
| 19 | g.38485821C>G | CA507353164 | RYR1 | c.5166C>G (p.Ala1722=) c.5163C>G (p.Ala1721=) n.5249C>G | |
| 19 | g.38485821C>T | CA507353165 | RYR1 | c.5166C>T (p.Ala1722=) c.5163C>T (p.Ala1721=) n.5249C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485822T>A | CA405654036 | RYR1 | c.5167T>A (p.Cys1723Ser) c.5164T>A (p.Cys1722Ser) n.5250T>A | |
| 19 | g.38485822T>C | CA405654037 | RYR1 | c.5167T>C (p.Cys1723Arg) c.5164T>C (p.Cys1722Arg) n.5250T>C | |
| 19 | g.38485822T>G | CA405654039 | RYR1 | c.5167T>G (p.Cys1723Gly) c.5164T>G (p.Cys1722Gly) n.5250T>G | |
| 19 | g.38485823G>A | CA405654041 | RYR1 | c.5168G>A (p.Cys1723Tyr) c.5165G>A (p.Cys1722Tyr) n.5251G>A | |
| 19 | g.38485823G>C | CA405654042 | RYR1 | c.5168G>C (p.Cys1723Ser) c.5165G>C (p.Cys1722Ser) n.5251G>C | |
| 19 | g.38485823G>T | CA405654043 | RYR1 | c.5168G>T (p.Cys1723Phe) c.5165G>T (p.Cys1722Phe) n.5251G>T | |
| 19 | g.38485824C>A | CA405654044 | RYR1 | c.5169C>A (p.Cys1723Ter) c.5166C>A (p.Cys1722Ter) n.5252C>A | |
| 19 | g.38485824C>G | CA405654045 | RYR1 | c.5169C>G (p.Cys1723Trp) c.5166C>G (p.Cys1722Trp) n.5252C>G | |
| 19 | g.38485824C>T | CA507353166 | RYR1 | c.5169C>T (p.Cys1723=) c.5166C>T (p.Cys1722=) n.5252C>T | |
| 19 | g.38485825C>A | CA405654049 | RYR1 | c.5170C>A (p.Arg1724Ser) c.5167C>A (p.Arg1723Ser) n.5253C>A | |
| 19 | g.38485825C= | CA2335046260 | RYR1 | c.5170C= (p.Arg1724=) c.5167C= (p.Arg1723=) n.5253C= | |
| 19 | g.38485825C>G | CA405654048 | RYR1 | c.5170C>G (p.Arg1724Gly) c.5167C>G (p.Arg1723Gly) n.5253C>G | gnomAD v4 |
| 19 | g.38485825C>T | CA066721 | RYR1 | c.5170C>T (p.Arg1724Cys) c.5167C>T (p.Arg1723Cys) n.5253C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>A | CA066725 | RYR1 | c.5171G>A (p.Arg1724His) c.5168G>A (p.Arg1723His) n.5254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>C | CA405654051 | RYR1 | c.5171G>C (p.Arg1724Pro) c.5168G>C (p.Arg1723Pro) n.5254G>C | |
| 19 | g.38485826G= | CA2335046261 | RYR1 | c.5171G= (p.Arg1724=) c.5168G= (p.Arg1723=) n.5254G= | |
| 19 | g.38485826G>T | CA405654053 | RYR1 | c.5171G>T (p.Arg1724Leu) c.5168G>T (p.Arg1723Leu) n.5254G>T | |
| 19 | g.38485827C>A | CA507353170 | RYR1 | c.5172C>A (p.Arg1724=) c.5169C>A (p.Arg1723=) n.5255C>A | |
| 19 | g.38485827C= | CA2335046262 | RYR1 | c.5172C= (p.Arg1724=) c.5169C= (p.Arg1723=) n.5255C= | |
| 19 | g.38485827C>G | CA507353171 | RYR1 | c.5172C>G (p.Arg1724=) c.5169C>G (p.Arg1723=) n.5255C>G | |
| 19 | g.38485827C>T | CA507353172 | RYR1 | c.5172C>T (p.Arg1724=) c.5169C>T (p.Arg1723=) n.5255C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485828A>C | CA405654054 | RYR1 | c.5173A>C (p.Ser1725Arg) c.5170A>C (p.Ser1724Arg) n.5256A>C | gnomAD v4 |
| 19 | g.38485828A>G | CA405654057 | RYR1 | c.5173A>G (p.Ser1725Gly) c.5170A>G (p.Ser1724Gly) n.5256A>G | |
| 19 | g.38485828A>T | CA405654056 | RYR1 | c.5173A>T (p.Ser1725Cys) c.5170A>T (p.Ser1724Cys) n.5256A>T | dbSNP |
| 19 | g.38485829G>A | CA081723 | RYR1 | c.5174G>A (p.Ser1725Asn) c.5171G>A (p.Ser1724Asn) n.5257G>A | |
| 19 | g.38485829G>C | CA405654059 | RYR1 | c.5174G>C (p.Ser1725Thr) c.5171G>C (p.Ser1724Thr) n.5257G>C | dbSNP |
| 19 | g.38485829G>T | CA405654061 | RYR1 | c.5174G>T (p.Ser1725Ile) c.5171G>T (p.Ser1724Ile) n.5257G>T | gnomAD v4 |
| 19 | g.38485834_38485836del | CA2584898017 | RYR1 | c.5179_5181del (p.Arg1727del) c.5176_5178del (p.Arg1726del) n.5262_5264del | gnomAD v4 |
| 19 | g.38485830C>A | CA066728 | RYR1 | c.5175C>A (p.Ser1725Arg) c.5172C>A (p.Ser1724Arg) n.5258C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485830C= | CA2335046263 | RYR1 | c.5175C= (p.Ser1725=) c.5172C= (p.Ser1724=) n.5258C= | |
| 19 | g.38485830C>G | CA405654063 | RYR1 | c.5175C>G (p.Ser1725Arg) c.5172C>G (p.Ser1724Arg) n.5258C>G | |
| 19 | g.38485830C>T | CA507353174 | RYR1 | c.5175C>T (p.Ser1725=) c.5172C>T (p.Ser1724=) n.5258C>T | |
| 19 | g.38485831C>A | CA405654065 | RYR1 | c.5176C>A (p.Arg1726Ser) c.5173C>A (p.Arg1725Ser) n.5259C>A | |
| 19 | g.38485831C= | CA2335046264 | RYR1 | c.5176C= (p.Arg1726=) c.5173C= (p.Arg1725=) n.5259C= | |
| 19 | g.38485831C>G | CA405654067 | RYR1 | c.5176C>G (p.Arg1726Gly) c.5173C>G (p.Arg1725Gly) n.5259C>G | |
| 19 | g.38485831C>T | CA405654069 | RYR1 | c.5176C>T (p.Arg1726Cys) c.5173C>T (p.Arg1725Cys) n.5259C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485832G>A | CA405654070 | RYR1 | c.5177G>A (p.Arg1726His) c.5174G>A (p.Arg1725His) n.5260G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485832G>C | CA405654071 | RYR1 | c.5177G>C (p.Arg1726Pro) c.5174G>C (p.Arg1725Pro) n.5260G>C | |
| 19 | g.38485832G= | CA2335046265 | RYR1 | c.5177G= (p.Arg1726=) c.5174G= (p.Arg1725=) n.5260G= | |
| 19 | g.38485832G>T | CA405654072 | RYR1 | c.5177G>T (p.Arg1726Leu) c.5174G>T (p.Arg1725Leu) n.5260G>T | gnomAD v4 |
| 19 | g.38485833C>A | CA081724 | RYR1 | c.5178C>A (p.Arg1726=) c.5175C>A (p.Arg1725=) n.5261C>A | |
| 19 | g.38485833C= | CA2335046266 | RYR1 | c.5178C= (p.Arg1726=) c.5175C= (p.Arg1725=) n.5261C= | |
| 19 | g.38485833C>G | CA507353176 | RYR1 | c.5178C>G (p.Arg1726=) c.5175C>G (p.Arg1725=) n.5261C>G | |
| 19 | g.38485833C>T | CA308093281 | RYR1 | c.5178C>T (p.Arg1726=) c.5175C>T (p.Arg1725=) n.5261C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485834C>A | CA405654075 | RYR1 | c.5179C>A (p.Arg1727Ser) c.5176C>A (p.Arg1726Ser) n.5262C>A | |
| 19 | g.38485834C= | CA2335046267 | RYR1 | c.5179C= (p.Arg1727=) c.5176C= (p.Arg1726=) n.5262C= | |
| 19 | g.38485834C>G | CA405654077 | RYR1 | c.5179C>G (p.Arg1727Gly) c.5176C>G (p.Arg1726Gly) n.5262C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485834C>T | CA066734 | RYR1 | c.5179C>T (p.Arg1727Cys) c.5176C>T (p.Arg1726Cys) n.5262C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>A | CA066738 | RYR1 | c.5180G>A (p.Arg1727His) c.5177G>A (p.Arg1726His) n.5263G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>C | CA405654079 | RYR1 | c.5180G>C (p.Arg1727Pro) c.5177G>C (p.Arg1726Pro) n.5263G>C | |
| 19 | g.38485835G= | CA2335046268 | RYR1 | c.5180G= (p.Arg1727=) c.5177G= (p.Arg1726=) n.5263G= | |
| 19 | g.38485835G>T | CA405654081 | RYR1 | c.5180G>T (p.Arg1727Leu) c.5177G>T (p.Arg1726Leu) n.5263G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485836C>A | CA507353178 | RYR1 | c.5181C>A (p.Arg1727=) c.5178C>A (p.Arg1726=) n.5264C>A | |
| 19 | g.38485836C= | CA2335046269 | RYR1 | c.5181C= (p.Arg1727=) c.5178C= (p.Arg1726=) n.5264C= | |
| 19 | g.38485836C>G | CA507353181 | RYR1 | c.5181C>G (p.Arg1727=) c.5178C>G (p.Arg1726=) n.5264C>G | |
| 19 | g.38485836C>T | CA507353182 | RYR1 | c.5181C>T (p.Arg1727=) c.5178C>T (p.Arg1726=) n.5264C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485837T>A | CA405654084 | RYR1 | c.5182T>A (p.Ser1728Thr) c.5179T>A (p.Ser1727Thr) n.5265T>A | |
| 19 | g.38485837T>C | CA024493 | RYR1 | c.5182T>C (p.Ser1728Pro) c.5179T>C (p.Ser1727Pro) n.5265T>C | ClinVar dbSNP |
| 19 | g.38485837T>G | CA405654085 | RYR1 | c.5182T>G (p.Ser1728Ala) c.5179T>G (p.Ser1727Ala) n.5265T>G | |
| 19 | g.38485837T= | CA2335046270 | RYR1 | c.5182T= (p.Ser1728=) c.5179T= (p.Ser1727=) n.5265T= | |
| 19 | g.38485838C>A | CA405654086 | RYR1 | c.5183C>A (p.Ser1728Tyr) c.5180C>A (p.Ser1727Tyr) n.5266C>A | |
| 19 | g.38485838C= | CA2335046271 | RYR1 | c.5183C= (p.Ser1728=) c.5180C= (p.Ser1727=) n.5266C= | |
| 19 | g.38485838C>G | CA405654087 | RYR1 | c.5183C>G (p.Ser1728Cys) c.5180C>G (p.Ser1727Cys) n.5266C>G | |
| 19 | g.38485838C>T | CA024494 | RYR1 | c.5183C>T (p.Ser1728Phe) c.5180C>T (p.Ser1727Phe) n.5266C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |