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.38485847_38485848del | CA2584898018 | RYR1 | c.5192_5193del (p.Ser1731Ter) c.5189_5190del (p.Ser1730Ter) n.5275_5276del | gnomAD v4 |
| 19 | g.38485845C>A | CA507353198 | RYR1 | c.5190C>A (p.Leu1730=) c.5187C>A (p.Leu1729=) n.5273C>A | |
| 19 | g.38485845C= | CA2335046273 | RYR1 | c.5190C= (p.Leu1730=) c.5187C= (p.Leu1729=) n.5273C= | |
| 19 | g.38485845C>G | CA066746 | RYR1 | c.5190C>G (p.Leu1730=) c.5187C>G (p.Leu1729=) n.5273C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485845C>T | CA507353199 | RYR1 | c.5190C>T (p.Leu1730=) c.5187C>T (p.Leu1729=) n.5273C>T | |
| 19 | g.38485846T>A | CA405654111 | RYR1 | c.5191T>A (p.Ser1731Thr) c.5188T>A (p.Ser1730Thr) n.5274T>A | |
| 19 | g.38485846T>C | CA405654114 | RYR1 | c.5191T>C (p.Ser1731Pro) c.5188T>C (p.Ser1730Pro) n.5274T>C | |
| 19 | g.38485846T>G | CA405654113 | RYR1 | c.5191T>G (p.Ser1731Ala) c.5188T>G (p.Ser1730Ala) n.5274T>G | |
| 19 | g.38485847C>A | CA405654115 | RYR1 | c.5192C>A (p.Ser1731Tyr) c.5189C>A (p.Ser1730Tyr) n.5275C>A | |
| 19 | g.38485847C>G | CA405654117 | RYR1 | c.5192C>G (p.Ser1731Cys) c.5189C>G (p.Ser1730Cys) n.5275C>G | |
| 19 | g.38485847C>T | CA405654118 | RYR1 | c.5192C>T (p.Ser1731Phe) c.5189C>T (p.Ser1730Phe) n.5275C>T | |
| 19 | g.38485848T>A | CA507353204 | RYR1 | c.5193T>A (p.Ser1731=) c.5190T>A (p.Ser1730=) n.5276T>A | |
| 19 | g.38485848T>C | CA066750 | RYR1 | c.5193T>C (p.Ser1731=) c.5190T>C (p.Ser1730=) n.5276T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485848T>G | CA507353205 | RYR1 | c.5193T>G (p.Ser1731=) c.5190T>G (p.Ser1730=) n.5276T>G | |
| 19 | g.38485848T= | CA2335046274 | RYR1 | c.5193T= (p.Ser1731=) c.5190T= (p.Ser1730=) n.5276T= | |
| 19 | g.38485849G>A | CA405654121 | RYR1 | c.5194G>A (p.Glu1732Lys) c.5191G>A (p.Glu1731Lys) n.5277G>A | COSMIC |
| 19 | g.38485849G>C | CA066755 | RYR1 | c.5194G>C (p.Glu1732Gln) c.5191G>C (p.Glu1731Gln) n.5277G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485849G= | CA2335046275 | RYR1 | c.5194G= (p.Glu1732=) c.5191G= (p.Glu1731=) n.5277G= | |
| 19 | g.38485849G>T | CA405654122 | RYR1 | c.5194G>T (p.Glu1732Ter) c.5191G>T (p.Glu1731Ter) n.5277G>T | |
| 19 | g.38485850A= | CA2335046276 | RYR1 | c.5195A= (p.Glu1732=) c.5192A= (p.Glu1731=) n.5278A= | |
| 19 | g.38485850A>C | CA405654124 | RYR1 | c.5195A>C (p.Glu1732Ala) c.5192A>C (p.Glu1731Ala) n.5278A>C | ClinVar dbSNP |
| 19 | g.38485850A>G | CA405654125 | RYR1 | c.5195A>G (p.Glu1732Gly) c.5192A>G (p.Glu1731Gly) n.5278A>G | |
| 19 | g.38485850A>T | CA405654127 | RYR1 | c.5195A>T (p.Glu1732Val) c.5192A>T (p.Glu1731Val) n.5278A>T | |
| 19 | g.38485851A>C | CA405654128 | RYR1 | c.5196A>C (p.Glu1732Asp) c.5193A>C (p.Glu1731Asp) n.5279A>C | |
| 19 | g.38485851A>G | CA507353211 | RYR1 | c.5196A>G (p.Glu1732=) c.5193A>G (p.Glu1731=) n.5279A>G | |
| 19 | g.38485851A>T | CA405654130 | RYR1 | c.5196A>T (p.Glu1732Asp) c.5193A>T (p.Glu1731Asp) n.5279A>T | ClinVar dbSNP |
| 19 | g.38485852T>A | CA066758 | RYR1 | c.5197T>A (p.Tyr1733Asn) c.5194T>A (p.Tyr1732Asn) n.5280T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485852T>C | CA405654134 | RYR1 | c.5197T>C (p.Tyr1733His) c.5194T>C (p.Tyr1732His) n.5280T>C | |
| 19 | g.38485852T>G | CA405654132 | RYR1 | c.5197T>G (p.Tyr1733Asp) c.5194T>G (p.Tyr1732Asp) n.5280T>G | gnomAD v4 |
| 19 | g.38485852T= | CA2335046277 | RYR1 | c.5197T= (p.Tyr1733=) c.5194T= (p.Tyr1732=) n.5280T= | |
| 19 | g.38485853A= | CA2335046278 | RYR1 | c.5198A= (p.Tyr1733=) c.5195A= (p.Tyr1732=) n.5281A= | |
| 19 | g.38485853A>C | CA066760 | RYR1 | c.5198A>C (p.Tyr1733Ser) c.5195A>C (p.Tyr1732Ser) n.5281A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485853A>G | CA405654136 | RYR1 | c.5198A>G (p.Tyr1733Cys) c.5195A>G (p.Tyr1732Cys) n.5281A>G | |
| 19 | g.38485853A>T | CA405654137 | RYR1 | c.5198A>T (p.Tyr1733Phe) c.5195A>T (p.Tyr1732Phe) n.5281A>T | |
| 19 | g.38485854C>A | CA405654138 | RYR1 | c.5199C>A (p.Tyr1733Ter) c.5196C>A (p.Tyr1732Ter) n.5282C>A | |
| 19 | g.38485854C= | CA2335046279 | RYR1 | c.5199C= (p.Tyr1733=) c.5196C= (p.Tyr1732=) n.5282C= | |
| 19 | g.38485854C>G | CA405654139 | RYR1 | c.5199C>G (p.Tyr1733Ter) c.5196C>G (p.Tyr1732Ter) n.5282C>G | |
| 19 | g.38485854C>T | CA066764 | RYR1 | c.5199C>T (p.Tyr1733=) c.5196C>T (p.Tyr1732=) n.5282C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485855A>C | CA405654141 | RYR1 | c.5200A>C (p.Ile1734Leu) c.5197A>C (p.Ile1733Leu) n.5283A>C | |
| 19 | g.38485855A>G | CA405654143 | RYR1 | c.5200A>G (p.Ile1734Val) c.5197A>G (p.Ile1733Val) n.5283A>G | gnomAD v4 |
| 19 | g.38485855A>T | CA405654145 | RYR1 | c.5200A>T (p.Ile1734Phe) c.5197A>T (p.Ile1733Phe) n.5283A>T | gnomAD v4 |
| 19 | g.38485856T>A | CA405654146 | RYR1 | c.5201T>A (p.Ile1734Asn) c.5198T>A (p.Ile1733Asn) n.5284T>A | |
| 19 | g.38485856T>C | CA405654148 | RYR1 | c.5201T>C (p.Ile1734Thr) c.5198T>C (p.Ile1733Thr) n.5284T>C | |
| 19 | g.38485856T>G | CA405654150 | RYR1 | c.5201T>G (p.Ile1734Ser) c.5198T>G (p.Ile1733Ser) n.5284T>G | |
| 19 | g.38485857C>A | CA308093297 | RYR1 | c.5202C>A (p.Ile1734=) c.5199C>A (p.Ile1733=) n.5285C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485857C= | CA2335046280 | RYR1 | c.5202C= (p.Ile1734=) c.5199C= (p.Ile1733=) n.5285C= | |
| 19 | g.38485857C>G | CA405654151 | RYR1 | c.5202C>G (p.Ile1734Met) c.5199C>G (p.Ile1733Met) n.5285C>G | |
| 19 | g.38485857C>T | CA081732 | RYR1 | c.5202C>T (p.Ile1734=) c.5199C>T (p.Ile1733=) n.5285C>T | gnomAD v4 COSMIC |
| 19 | g.38485858G>A | CA405654157 | RYR1 | c.5203G>A (p.Val1735Met) c.5200G>A (p.Val1734Met) n.5286G>A | dbSNP gnomAD v4 COSMIC |
| 19 | g.38485858G>C | CA405654155 | RYR1 | c.5203G>C (p.Val1735Leu) c.5200G>C (p.Val1734Leu) n.5286G>C | |
| 19 | g.38485858G= | CA2335046281 | RYR1 | c.5203G= (p.Val1735=) c.5200G= (p.Val1734=) n.5286G= | |
| 19 | g.38485858G>T | CA405654153 | RYR1 | c.5203G>T (p.Val1735Leu) c.5200G>T (p.Val1734Leu) n.5286G>T | gnomAD v4 |
| 19 | g.38485859T>A | CA405654159 | RYR1 | c.5204T>A (p.Val1735Glu) c.5201T>A (p.Val1734Glu) n.5287T>A | |
| 19 | g.38485859T>C | CA405654160 | RYR1 | c.5204T>C (p.Val1735Ala) c.5201T>C (p.Val1734Ala) n.5287T>C | |
| 19 | g.38485859T>G | CA405654161 | RYR1 | c.5204T>G (p.Val1735Gly) c.5201T>G (p.Val1734Gly) n.5287T>G | |
| 19 | g.38485860G>A | CA507353221 | RYR1 | c.5205G>A (p.Val1735=) c.5202G>A (p.Val1734=) n.5288G>A | gnomAD v4 COSMIC |
| 19 | g.38485860G>C | CA066769 | RYR1 | c.5205G>C (p.Val1735=) c.5202G>C (p.Val1734=) n.5288G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485860G= | CA2335046282 | RYR1 | c.5205G= (p.Val1735=) c.5202G= (p.Val1734=) n.5288G= | |
| 19 | g.38485860G>T | CA507353223 | RYR1 | c.5205G>T (p.Val1735=) c.5202G>T (p.Val1734=) n.5288G>T | ClinVar gnomAD v4 |
| 19 | g.38485861C>A | CA405654164 | RYR1 | c.5206C>A (p.Pro1736Thr) c.5203C>A (p.Pro1735Thr) n.5289C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485861C= | CA2335046283 | RYR1 | c.5206C= (p.Pro1736=) c.5203C= (p.Pro1735=) n.5289C= | |
| 19 | g.38485861C>G | CA405654165 | RYR1 | c.5206C>G (p.Pro1736Ala) c.5203C>G (p.Pro1735Ala) n.5289C>G | |
| 19 | g.38485861C>T | CA066773 | RYR1 | c.5206C>T (p.Pro1736Ser) c.5203C>T (p.Pro1735Ser) n.5289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485862C>A | CA405654168 | RYR1 | c.5207C>A (p.Pro1736His) c.5204C>A (p.Pro1735His) n.5290C>A | |
| 19 | g.38485862C>G | CA405654170 | RYR1 | c.5207C>G (p.Pro1736Arg) c.5204C>G (p.Pro1735Arg) n.5290C>G | |
| 19 | g.38485862C>T | CA405654171 | RYR1 | c.5207C>T (p.Pro1736Leu) c.5204C>T (p.Pro1735Leu) n.5290C>T | ClinVar gnomAD v4 |
| 19 | g.38485863C>A | CA507353227 | RYR1 | c.5208C>A (p.Pro1736=) c.5205C>A (p.Pro1735=) n.5291C>A | COSMIC |
| 19 | g.38485863C= | CA2335046284 | RYR1 | c.5208C= (p.Pro1736=) c.5205C= (p.Pro1735=) n.5291C= | |
| 19 | g.38485863C>G | CA507353229 | RYR1 | c.5208C>G (p.Pro1736=) c.5205C>G (p.Pro1735=) n.5291C>G | |
| 19 | g.38485863C>T | CA066777 | RYR1 | c.5208C>T (p.Pro1736=) c.5205C>T (p.Pro1735=) n.5291C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.38485864C>A | CA405654172 | RYR1 | c.5209C>A (p.Leu1737Ile) c.5206C>A (p.Leu1736Ile) n.5292C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485864C= | CA2335046285 | RYR1 | c.5209C= (p.Leu1737=) c.5206C= (p.Leu1736=) n.5292C= | |
| 19 | g.38485864C>G | CA405654173 | RYR1 | c.5209C>G (p.Leu1737Val) c.5206C>G (p.Leu1736Val) n.5292C>G | |
| 19 | g.38485864C>T | CA081734 | RYR1 | c.5209C>T (p.Leu1737Phe) c.5206C>T (p.Leu1736Phe) n.5292C>T | |
| 19 | g.38485865T>A | CA405654177 | RYR1 | c.5210T>A (p.Leu1737His) c.5207T>A (p.Leu1736His) n.5293T>A | |
| 19 | g.38485865T>C | CA405654179 | RYR1 | c.5210T>C (p.Leu1737Pro) c.5207T>C (p.Leu1736Pro) n.5293T>C | |
| 19 | g.38485865T>G | CA405654176 | RYR1 | c.5210T>G (p.Leu1737Arg) c.5207T>G (p.Leu1736Arg) n.5293T>G | |
| 19 | g.38485866C>A | CA507353237 | RYR1 | c.5211C>A (p.Leu1737=) c.5208C>A (p.Leu1736=) n.5294C>A | |
| 19 | g.38485866C>G | CA507353234 | RYR1 | c.5211C>G (p.Leu1737=) c.5208C>G (p.Leu1736=) n.5294C>G | |
| 19 | g.38485866C>T | CA081735 | RYR1 | c.5211C>T (p.Leu1737=) c.5208C>T (p.Leu1736=) n.5294C>T | gnomAD v4 |
| 19 | g.38485867del | CA2584898019 | RYR1 | c.5212del (p.Thr1738ArgfsTer?) c.5209del (p.Thr1737ArgfsTer?) n.5295del | gnomAD v4 |
| 19 | g.38485867A>C | CA405654181 | RYR1 | c.5212A>C (p.Thr1738Pro) c.5209A>C (p.Thr1737Pro) n.5295A>C | |
| 19 | g.38485867A>G | CA405654183 | RYR1 | c.5212A>G (p.Thr1738Ala) c.5209A>G (p.Thr1737Ala) n.5295A>G | |
| 19 | g.38485867A>T | CA405654184 | RYR1 | c.5212A>T (p.Thr1738Ser) c.5209A>T (p.Thr1737Ser) n.5295A>T | |
| 19 | g.38485868C>A | CA405654185 | RYR1 | c.5213C>A (p.Thr1738Lys) c.5210C>A (p.Thr1737Lys) n.5296C>A | |
| 19 | g.38485868C= | CA2335046286 | RYR1 | c.5213C= (p.Thr1738=) c.5210C= (p.Thr1737=) n.5296C= | |
| 19 | g.38485868C>G | CA405654186 | RYR1 | c.5213C>G (p.Thr1738Arg) c.5210C>G (p.Thr1737Arg) n.5296C>G | |
| 19 | g.38485868C>T | CA405654188 | RYR1 | c.5213C>T (p.Thr1738Met) c.5210C>T (p.Thr1737Met) n.5296C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485869G>A | CA507353241 | RYR1 | c.5214G>A (p.Thr1738=) c.5211G>A (p.Thr1737=) n.5297G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485869G>C | CA507353243 | RYR1 | c.5214G>C (p.Thr1738=) c.5211G>C (p.Thr1737=) n.5297G>C | |
| 19 | g.38485869G= | CA2335046287 | RYR1 | c.5214G= (p.Thr1738=) c.5211G= (p.Thr1737=) n.5297G= | |
| 19 | g.38485869G>T | CA507353245 | RYR1 | c.5214G>T (p.Thr1738=) c.5211G>T (p.Thr1737=) n.5297G>T | |
| 19 | g.38485870C>A | CA405654190 | RYR1 | c.5215C>A (p.Pro1739Thr) c.5212C>A (p.Pro1738Thr) n.5298C>A | |
| 19 | g.38485870C= | CA2335046288 | RYR1 | c.5215C= (p.Pro1739=) c.5212C= (p.Pro1738=) n.5298C= | |
| 19 | g.38485870C>G | CA405654191 | RYR1 | c.5215C>G (p.Pro1739Ala) c.5212C>G (p.Pro1738Ala) n.5298C>G | |
| 19 | g.38485870C>T | CA405654192 | RYR1 | c.5215C>T (p.Pro1739Ser) c.5212C>T (p.Pro1738Ser) n.5298C>T | dbSNP gnomAD v4 |
| 19 | g.38485871C>A | CA405654194 | RYR1 | c.5216C>A (p.Pro1739His) c.5213C>A (p.Pro1738His) n.5299C>A | |
| 19 | g.38485871C>G | CA405654196 | RYR1 | c.5216C>G (p.Pro1739Arg) c.5213C>G (p.Pro1738Arg) n.5299C>G | |
| 19 | g.38485871C>T | CA405654197 | RYR1 | c.5216C>T (p.Pro1739Leu) c.5213C>T (p.Pro1738Leu) n.5299C>T | |
| 19 | g.38485872T>A | CA507353249 | RYR1 | c.5217T>A (p.Pro1739=) c.5214T>A (p.Pro1738=) n.5300T>A | |
| 19 | g.38485872T>C | CA507353251 | RYR1 | c.5217T>C (p.Pro1739=) c.5214T>C (p.Pro1738=) n.5300T>C | |
| 19 | g.38485872T>G | CA507353253 | RYR1 | c.5217T>G (p.Pro1739=) c.5214T>G (p.Pro1738=) n.5300T>G | |
| 19 | g.38485873G>A | CA405654200 | RYR1 | c.5218G>A (p.Glu1740Lys) c.5215G>A (p.Glu1739Lys) n.5301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485873G>C | CA405654202 | RYR1 | c.5218G>C (p.Glu1740Gln) c.5215G>C (p.Glu1739Gln) n.5301G>C | |
| 19 | g.38485873G= | CA2335046289 | RYR1 | c.5218G= (p.Glu1740=) c.5215G= (p.Glu1739=) n.5301G= | |
| 19 | g.38485873G>T | CA405654199 | RYR1 | c.5218G>T (p.Glu1740Ter) c.5215G>T (p.Glu1739Ter) n.5301G>T | ClinVar dbSNP |
| 19 | g.38485874A>C | CA405654203 | RYR1 | c.5219A>C (p.Glu1740Ala) c.5216A>C (p.Glu1739Ala) n.5302A>C | |
| 19 | g.38485874A>G | CA405654205 | RYR1 | c.5219A>G (p.Glu1740Gly) c.5216A>G (p.Glu1739Gly) n.5302A>G | |
| 19 | g.38485874A>T | CA405654207 | RYR1 | c.5219A>T (p.Glu1740Val) c.5216A>T (p.Glu1739Val) n.5302A>T | |
| 19 | g.38485875G>A | CA507353258 | RYR1 | c.5220G>A (p.Glu1740=) c.5217G>A (p.Glu1739=) n.5303G>A | |
| 19 | g.38485875G>C | CA405654208 | RYR1 | c.5220G>C (p.Glu1740Asp) c.5217G>C (p.Glu1739Asp) n.5303G>C | |
| 19 | g.38485875G>T | CA405654209 | RYR1 | c.5220G>T (p.Glu1740Asp) c.5217G>T (p.Glu1739Asp) n.5303G>T | gnomAD v4 |
| 19 | g.38485876A>C | CA405654214 | RYR1 | c.5221A>C (p.Thr1741Pro) c.5218A>C (p.Thr1740Pro) n.5304A>C | |
| 19 | g.38485876A>G | CA405654211 | RYR1 | c.5221A>G (p.Thr1741Ala) c.5218A>G (p.Thr1740Ala) n.5304A>G | |
| 19 | g.38485876A>T | CA405654213 | RYR1 | c.5221A>T (p.Thr1741Ser) c.5218A>T (p.Thr1740Ser) n.5304A>T | |
| 19 | g.38485877C>A | CA405654216 | RYR1 | c.5222C>A (p.Thr1741Asn) c.5219C>A (p.Thr1740Asn) n.5305C>A | |
| 19 | g.38485877C= | CA2335046290 | RYR1 | c.5222C= (p.Thr1741=) c.5219C= (p.Thr1740=) n.5305C= | |
| 19 | g.38485877C>G | CA308093321 | RYR1 | c.5222C>G (p.Thr1741Ser) c.5219C>G (p.Thr1740Ser) n.5305C>G | dbSNP |
| 19 | g.38485877C>T | CA405654218 | RYR1 | c.5222C>T (p.Thr1741Ile) c.5219C>T (p.Thr1740Ile) n.5305C>T | ClinVar |
| 19 | g.38485878C>A | CA507353262 | RYR1 | c.5223C>A (p.Thr1741=) c.5220C>A (p.Thr1740=) n.5306C>A | dbSNP gnomAD v4 |
| 19 | g.38485878C= | CA2335046291 | RYR1 | c.5223C= (p.Thr1741=) c.5220C= (p.Thr1740=) n.5306C= | |
| 19 | g.38485878C>G | CA507353264 | RYR1 | c.5223C>G (p.Thr1741=) c.5220C>G (p.Thr1740=) n.5306C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485878C>T | CA507353266 | RYR1 | c.5223C>T (p.Thr1741=) c.5220C>T (p.Thr1740=) n.5306C>T | |
| 19 | g.38485879C>A | CA405654220 | RYR1 | c.5224C>A (p.Arg1742Ser) c.5221C>A (p.Arg1741Ser) n.5307C>A | |
| 19 | g.38485879C= | CA2335046292 | RYR1 | c.5224C= (p.Arg1742=) c.5221C= (p.Arg1741=) n.5307C= | |
| 19 | g.38485879C>G | CA405654222 | RYR1 | c.5224C>G (p.Arg1742Gly) c.5221C>G (p.Arg1741Gly) n.5307C>G | |
| 19 | g.38485879C>T | CA405654223 | RYR1 | c.5224C>T (p.Arg1742Cys) c.5221C>T (p.Arg1741Cys) n.5307C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485880G>A | CA066779 | RYR1 | c.5225G>A (p.Arg1742His) c.5222G>A (p.Arg1741His) n.5308G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485880G>C | CA405654227 | RYR1 | c.5225G>C (p.Arg1742Pro) c.5222G>C (p.Arg1741Pro) n.5308G>C | gnomAD v4 |
| 19 | g.38485880G= | CA2335046293 | RYR1 | c.5225G= (p.Arg1742=) c.5222G= (p.Arg1741=) n.5308G= | |
| 19 | g.38485880G>T | CA405654225 | RYR1 | c.5225G>T (p.Arg1742Leu) c.5222G>T (p.Arg1741Leu) n.5308G>T | |
| 19 | g.38485881C>A | CA507353269 | RYR1 | c.5226C>A (p.Arg1742=) c.5223C>A (p.Arg1741=) n.5309C>A | |
| 19 | g.38485881C= | CA2335046294 | RYR1 | c.5226C= (p.Arg1742=) c.5223C= (p.Arg1741=) n.5309C= | |
| 19 | g.38485881C>G | CA507353270 | RYR1 | c.5226C>G (p.Arg1742=) c.5223C>G (p.Arg1741=) n.5309C>G | |
| 19 | g.38485881C>T | CA066782 | RYR1 | c.5226C>T (p.Arg1742=) c.5223C>T (p.Arg1741=) n.5309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485882G>A | CA405654230 | RYR1 | c.5227G>A (p.Ala1743Thr) c.5224G>A (p.Ala1742Thr) n.5310G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485882G>C | CA405654229 | RYR1 | c.5227G>C (p.Ala1743Pro) c.5224G>C (p.Ala1742Pro) n.5310G>C | |
| 19 | g.38485882G= | CA2335046295 | RYR1 | c.5227G= (p.Ala1743=) c.5224G= (p.Ala1742=) n.5310G= | |
| 19 | g.38485882G>T | CA405654232 | RYR1 | c.5227G>T (p.Ala1743Ser) c.5224G>T (p.Ala1742Ser) n.5310G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485883C>A | CA405654234 | RYR1 | c.5228C>A (p.Ala1743Asp) c.5225C>A (p.Ala1742Asp) n.5311C>A | |
| 19 | g.38485883C>G | CA405654235 | RYR1 | c.5228C>G (p.Ala1743Gly) c.5225C>G (p.Ala1742Gly) n.5311C>G | gnomAD v4 |
| 19 | g.38485883C>T | CA405654237 | RYR1 | c.5228C>T (p.Ala1743Val) c.5225C>T (p.Ala1742Val) n.5311C>T | |
| 19 | g.38485884C>A | CA507353274 | RYR1 | c.5229C>A (p.Ala1743=) c.5226C>A (p.Ala1742=) n.5312C>A | |
| 19 | g.38485884C>G | CA507353276 | RYR1 | c.5229C>G (p.Ala1743=) c.5226C>G (p.Ala1742=) n.5312C>G | |
| 19 | g.38485884C>T | CA081737 | RYR1 | c.5229C>T (p.Ala1743=) c.5226C>T (p.Ala1742=) n.5312C>T | |
| 19 | g.38485885A>C | CA405654239 | RYR1 | c.5230A>C (p.Ile1744Leu) c.5227A>C (p.Ile1743Leu) n.5313A>C | |
| 19 | g.38485885A>G | CA405654241 | RYR1 | c.5230A>G (p.Ile1744Val) c.5227A>G (p.Ile1743Val) n.5313A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485885A>T | CA405654242 | RYR1 | c.5230A>T (p.Ile1744Phe) c.5227A>T (p.Ile1743Phe) n.5313A>T | |
| 19 | g.38485886T>A | CA405654245 | RYR1 | c.5231T>A (p.Ile1744Asn) c.5228T>A (p.Ile1743Asn) n.5314T>A | |
| 19 | g.38485886T>C | CA405654246 | RYR1 | c.5231T>C (p.Ile1744Thr) c.5228T>C (p.Ile1743Thr) n.5314T>C | gnomAD v4 |
| 19 | g.38485886T>G | CA405654247 | RYR1 | c.5231T>G (p.Ile1744Ser) c.5228T>G (p.Ile1743Ser) n.5314T>G | |
| 19 | g.38485887C>A | CA507353278 | RYR1 | c.5232C>A (p.Ile1744=) c.5229C>A (p.Ile1743=) n.5315C>A | |
| 19 | g.38485887C= | CA2335046296 | RYR1 | c.5232C= (p.Ile1744=) c.5229C= (p.Ile1743=) n.5315C= | |
| 19 | g.38485887C>G | CA405654249 | RYR1 | c.5232C>G (p.Ile1744Met) c.5229C>G (p.Ile1743Met) n.5315C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485887C>T | CA507353279 | RYR1 | c.5232C>T (p.Ile1744=) c.5229C>T (p.Ile1743=) n.5315C>T | ClinVar gnomAD v4 |
| 19 | g.38485888A>C | CA405654250 | RYR1 | c.5233A>C (p.Thr1745Pro) c.5230A>C (p.Thr1744Pro) n.5316A>C | |
| 19 | g.38485888A>G | CA405654253 | RYR1 | c.5233A>G (p.Thr1745Ala) c.5230A>G (p.Thr1744Ala) n.5316A>G | |
| 19 | g.38485888A>T | CA405654254 | RYR1 | c.5233A>T (p.Thr1745Ser) c.5230A>T (p.Thr1744Ser) n.5316A>T | |
| 19 | g.38485889C>A | CA405654255 | RYR1 | c.5234C>A (p.Thr1745Lys) c.5231C>A (p.Thr1744Lys) n.5317C>A | |
| 19 | g.38485889C= | CA2335046297 | RYR1 | c.5234C= (p.Thr1745=) c.5231C= (p.Thr1744=) n.5317C= | |
| 19 | g.38485889C>G | CA024499 | RYR1 | c.5234C>G (p.Thr1745Arg) c.5231C>G (p.Thr1744Arg) n.5317C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485889C>T | CA066786 | RYR1 | c.5234C>T (p.Thr1745Met) c.5231C>T (p.Thr1744Met) n.5317C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485890G>A | CA066790 | RYR1 | c.5235G>A (p.Thr1745=) c.5232G>A (p.Thr1744=) n.5318G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485890G>C | CA507353280 | RYR1 | c.5235G>C (p.Thr1745=) c.5232G>C (p.Thr1744=) n.5318G>C | |
| 19 | g.38485890G= | CA2335046298 | RYR1 | c.5235G= (p.Thr1745=) c.5232G= (p.Thr1744=) n.5318G= | |
| 19 | g.38485890G>T | CA507353282 | RYR1 | c.5235G>T (p.Thr1745=) c.5232G>T (p.Thr1744=) n.5318G>T | |
| 19 | g.38485891C>A | CA405654256 | RYR1 | c.5236C>A (p.Leu1746Ile) c.5233C>A (p.Leu1745Ile) n.5319C>A | |
| 19 | g.38485891C= | CA2335046299 | RYR1 | c.5236C= (p.Leu1746=) c.5233C= (p.Leu1745=) n.5319C= | |
| 19 | g.38485891C>G | CA405654257 | RYR1 | c.5236C>G (p.Leu1746Val) c.5233C>G (p.Leu1745Val) n.5319C>G | |
| 19 | g.38485891C>T | CA066793 | RYR1 | c.5236C>T (p.Leu1746Phe) c.5233C>T (p.Leu1745Phe) n.5319C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485892T>A | CA405654260 | RYR1 | c.5237T>A (p.Leu1746His) c.5234T>A (p.Leu1745His) n.5320T>A | |
| 19 | g.38485892T>C | CA405654262 | RYR1 | c.5237T>C (p.Leu1746Pro) c.5234T>C (p.Leu1745Pro) n.5320T>C | gnomAD v4 |
| 19 | g.38485892T>G | CA405654263 | RYR1 | c.5237T>G (p.Leu1746Arg) c.5234T>G (p.Leu1745Arg) n.5320T>G | |
| 19 | g.38485893C>A | CA507353284 | RYR1 | c.5238C>A (p.Leu1746=) c.5235C>A (p.Leu1745=) n.5321C>A | |
| 19 | g.38485893C= | CA2335046300 | RYR1 | c.5238C= (p.Leu1746=) c.5235C= (p.Leu1745=) n.5321C= | |
| 19 | g.38485893C>G | CA507353285 | RYR1 | c.5238C>G (p.Leu1746=) c.5235C>G (p.Leu1745=) n.5321C>G | |
| 19 | g.38485893C>T | CA066796 | RYR1 | c.5238C>T (p.Leu1746=) c.5235C>T (p.Leu1745=) n.5321C>T | ClinVar dbSNP ExAC |
| 19 | g.38485894T>A | CA405654264 | RYR1 | c.5239T>A (p.Phe1747Ile) c.5236T>A (p.Phe1746Ile) n.5322T>A | |
| 19 | g.38485894T>C | CA405654265 | RYR1 | c.5239T>C (p.Phe1747Leu) c.5236T>C (p.Phe1746Leu) n.5322T>C | gnomAD v4 |
| 19 | g.38485894T>G | CA405654267 | RYR1 | c.5239T>G (p.Phe1747Val) c.5236T>G (p.Phe1746Val) n.5322T>G | |
| 19 | g.38485895T>A | CA405654270 | RYR1 | c.5240T>A (p.Phe1747Tyr) c.5237T>A (p.Phe1746Tyr) n.5323T>A | |
| 19 | g.38485895T>C | CA405654269 | RYR1 | c.5240T>C (p.Phe1747Ser) c.5237T>C (p.Phe1746Ser) n.5323T>C | gnomAD v4 |
| 19 | g.38485895T>G | CA405654268 | RYR1 | c.5240T>G (p.Phe1747Cys) c.5237T>G (p.Phe1746Cys) n.5323T>G | |
| 19 | g.38485896C>A | CA405654273 | RYR1 | c.5241C>A (p.Phe1747Leu) c.5238C>A (p.Phe1746Leu) n.5324C>A | |
| 19 | g.38485896C>G | CA405654272 | RYR1 | c.5241C>G (p.Phe1747Leu) c.5238C>G (p.Phe1746Leu) n.5324C>G | |
| 19 | g.38485896C>T | CA081741 | RYR1 | c.5241C>T (p.Phe1747=) c.5238C>T (p.Phe1746=) n.5324C>T | gnomAD v4 COSMIC |
| 19 | g.38485897C>A | CA405654275 | RYR1 | c.5242C>A (p.Pro1748Thr) c.5239C>A (p.Pro1747Thr) n.5325C>A | |
| 19 | g.38485897C>G | CA405654276 | RYR1 | c.5242C>G (p.Pro1748Ala) c.5239C>G (p.Pro1747Ala) n.5325C>G | |
| 19 | g.38485897C>T | CA405654278 | RYR1 | c.5242C>T (p.Pro1748Ser) c.5239C>T (p.Pro1747Ser) n.5325C>T | ClinVar COSMIC |
| 19 | g.38485898C>A | CA405654280 | RYR1 | c.5243C>A (p.Pro1748His) c.5240C>A (p.Pro1747His) n.5326C>A | dbSNP |
| 19 | g.38485898C= | CA2335046301 | RYR1 | c.5243C= (p.Pro1748=) c.5240C= (p.Pro1747=) n.5326C= | |
| 19 | g.38485898C>G | CA405654281 | RYR1 | c.5243C>G (p.Pro1748Arg) c.5240C>G (p.Pro1747Arg) n.5326C>G | |
| 19 | g.38485898C>T | CA405654283 | RYR1 | c.5243C>T (p.Pro1748Leu) c.5240C>T (p.Pro1747Leu) n.5326C>T | dbSNP |
| 19 | g.38485899T>A | CA507353289 | RYR1 | c.5244T>A (p.Pro1748=) c.5241T>A (p.Pro1747=) n.5327T>A | |
| 19 | g.38485899T>C | CA507353290 | RYR1 | c.5244T>C (p.Pro1748=) c.5241T>C (p.Pro1747=) n.5327T>C | |
| 19 | g.38485899T>G | CA507353291 | RYR1 | c.5244T>G (p.Pro1748=) c.5241T>G (p.Pro1747=) n.5327T>G | gnomAD v4 |
| 19 | g.38485900C>A | CA405654284 | RYR1 | c.5245C>A (p.Pro1749Thr) c.5242C>A (p.Pro1748Thr) n.5328C>A | |
| 19 | g.38485900C= | CA2335046302 | RYR1 | c.5245C= (p.Pro1749=) c.5242C= (p.Pro1748=) n.5328C= | |
| 19 | g.38485900C>G | CA405654285 | RYR1 | c.5245C>G (p.Pro1749Ala) c.5242C>G (p.Pro1748Ala) n.5328C>G | |
| 19 | g.38485900C>T | CA405654287 | RYR1 | c.5245C>T (p.Pro1749Ser) c.5242C>T (p.Pro1748Ser) n.5328C>T | dbSNP gnomAD v4 |
| 19 | g.38485901C>A | CA405654288 | RYR1 | c.5246C>A (p.Pro1749His) c.5243C>A (p.Pro1748His) n.5329C>A | |
| 19 | g.38485901C= | CA2335046303 | RYR1 | c.5246C= (p.Pro1749=) c.5243C= (p.Pro1748=) n.5329C= | |
| 19 | g.38485901C>G | CA405654290 | RYR1 | c.5246C>G (p.Pro1749Arg) c.5243C>G (p.Pro1748Arg) n.5329C>G | |
| 19 | g.38485901C>T | CA405654291 | RYR1 | c.5246C>T (p.Pro1749Leu) c.5243C>T (p.Pro1748Leu) n.5329C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485902T>A | CA507353295 | RYR1 | c.5247T>A (p.Pro1749=) c.5244T>A (p.Pro1748=) n.5330T>A | |
| 19 | g.38485902T>C | CA507353296 | RYR1 | c.5247T>C (p.Pro1749=) c.5244T>C (p.Pro1748=) n.5330T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485902T>G | CA507353297 | RYR1 | c.5247T>G (p.Pro1749=) c.5244T>G (p.Pro1748=) n.5330T>G | |
| 19 | g.38485902T= | CA2335046304 | RYR1 | c.5247T= (p.Pro1749=) c.5244T= (p.Pro1748=) n.5330T= | |
| 19 | g.38485903G>A | CA405654296 | RYR1 | c.5248G>A (p.Gly1750Arg) c.5245G>A (p.Gly1749Arg) n.5331G>A | |
| 19 | g.38485903G>C | CA405654293 | RYR1 | c.5248G>C (p.Gly1750Arg) c.5245G>C (p.Gly1749Arg) n.5331G>C | gnomAD v4 |
| 19 | g.38485903G>T | CA405654294 | RYR1 | c.5248G>T (p.Gly1750Ter) c.5245G>T (p.Gly1749Ter) n.5331G>T | |
| 19 | g.38485904G>A | CA405654298 | RYR1 | c.5249G>A (p.Gly1750Glu) c.5246G>A (p.Gly1749Glu) n.5332G>A | |
| 19 | g.38485904G>C | CA405654299 | RYR1 | c.5249G>C (p.Gly1750Ala) c.5246G>C (p.Gly1749Ala) n.5332G>C | |
| 19 | g.38485904G>T | CA405654301 | RYR1 | c.5249G>T (p.Gly1750Val) c.5246G>T (p.Gly1749Val) n.5332G>T | |
| 19 | g.38485905A= | CA2335046305 | RYR1 | c.5250A= (p.Gly1750=) c.5247A= (p.Gly1749=) n.5333A= | |
| 19 | g.38485905A>C | CA507353302 | RYR1 | c.5250A>C (p.Gly1750=) c.5247A>C (p.Gly1749=) n.5333A>C | |
| 19 | g.38485905A>G | CA066800 | RYR1 | c.5250A>G (p.Gly1750=) c.5247A>G (p.Gly1749=) n.5333A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485905A>T | CA507353303 | RYR1 | c.5250A>T (p.Gly1750=) c.5247A>T (p.Gly1749=) n.5333A>T | |
| 19 | g.38485906A= | CA2335046306 | RYR1 | c.5251A= (p.Arg1751=) c.5248A= (p.Arg1750=) n.5334A= | |
| 19 | g.38485906A>C | CA507353305 | RYR1 | c.5251A>C (p.Arg1751=) c.5248A>C (p.Arg1750=) n.5334A>C | |
| 19 | g.38485906A>G | CA066804 | RYR1 | c.5251A>G (p.Arg1751Gly) c.5248A>G (p.Arg1750Gly) n.5334A>G | dbSNP ExAC gnomAD v4 |
| 19 | g.38485906A>T | CA405654303 | RYR1 | c.5251A>T (p.Arg1751Trp) c.5248A>T (p.Arg1750Trp) n.5334A>T | |
| 19 | g.38485907G>A | CA405654305 | RYR1 | c.5252G>A (p.Arg1751Lys) c.5249G>A (p.Arg1750Lys) n.5335G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485907G>C | CA405654306 | RYR1 | c.5252G>C (p.Arg1751Thr) c.5249G>C (p.Arg1750Thr) n.5335G>C | |
| 19 | g.38485907G= | CA2335046307 | RYR1 | c.5252G= (p.Arg1751=) c.5249G= (p.Arg1750=) n.5335G= | |
| 19 | g.38485907G>T | CA405654307 | RYR1 | c.5252G>T (p.Arg1751Met) c.5249G>T (p.Arg1750Met) n.5335G>T | |
| 19 | g.38485908G>A | CA066808 | RYR1 | c.5253G>A (p.Arg1751=) c.5250G>A (p.Arg1750=) n.5336G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485908G>C | CA405654309 | RYR1 | c.5253G>C (p.Arg1751Ser) c.5250G>C (p.Arg1750Ser) n.5336G>C | |
| 19 | g.38485908G= | CA2335046308 | RYR1 | c.5253G= (p.Arg1751=) c.5250G= (p.Arg1750=) n.5336G= | |
| 19 | g.38485908G>T | CA405654311 | RYR1 | c.5253G>T (p.Arg1751Ser) c.5250G>T (p.Arg1750Ser) n.5336G>T | |
| 19 | g.38485909A= | CA2335046309 | RYR1 | c.5254A= (p.Ser1752=) c.5251A= (p.Ser1751=) n.5337A= | |
| 19 | g.38485909A>C | CA405654314 | RYR1 | c.5254A>C (p.Ser1752Arg) c.5251A>C (p.Ser1751Arg) n.5337A>C | |
| 19 | g.38485909A>G | CA066812 | RYR1 | c.5254A>G (p.Ser1752Gly) c.5251A>G (p.Ser1751Gly) n.5337A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485909A>T | CA405654313 | RYR1 | c.5254A>T (p.Ser1752Cys) c.5251A>T (p.Ser1751Cys) n.5337A>T | |
| 19 | g.38485910G>A | CA066816 | RYR1 | c.5255G>A (p.Ser1752Asn) c.5252G>A (p.Ser1751Asn) n.5338G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485910G>C | CA405654319 | RYR1 | c.5255G>C (p.Ser1752Thr) c.5252G>C (p.Ser1751Thr) n.5338G>C | |
| 19 | g.38485910G= | CA2335046310 | RYR1 | c.5255G= (p.Ser1752=) c.5252G= (p.Ser1751=) n.5338G= | |
| 19 | g.38485910G>T | CA405654317 | RYR1 | c.5255G>T (p.Ser1752Ile) c.5252G>T (p.Ser1751Ile) n.5338G>T | gnomAD v4 |
| 19 | g.38485911C>A | CA405654320 | RYR1 | c.5256C>A (p.Ser1752Arg) c.5253C>A (p.Ser1751Arg) n.5339C>A | |
| 19 | g.38485911C= | CA2335046311 | RYR1 | c.5256C= (p.Ser1752=) c.5253C= (p.Ser1751=) n.5339C= | |
| 19 | g.38485911C>G | CA405654322 | RYR1 | c.5256C>G (p.Ser1752Arg) c.5253C>G (p.Ser1751Arg) n.5339C>G | |
| 19 | g.38485911C>T | CA507353313 | RYR1 | c.5256C>T (p.Ser1752=) c.5253C>T (p.Ser1751=) n.5339C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485912A= | CA2335046312 | RYR1 | c.5257A= (p.Thr1753=) c.5254A= (p.Thr1752=) n.5340A= | |
| 19 | g.38485912A>C | CA405654324 | RYR1 | c.5257A>C (p.Thr1753Pro) c.5254A>C (p.Thr1752Pro) n.5340A>C | |
| 19 | g.38485912A>G | CA081744 | RYR1 | c.5257A>G (p.Thr1753Ala) c.5254A>G (p.Thr1752Ala) n.5340A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485912A>T | CA405654326 | RYR1 | c.5257A>T (p.Thr1753Ser) c.5254A>T (p.Thr1752Ser) n.5340A>T | |
| 19 | g.38485913C>A | CA405654328 | RYR1 | c.5258C>A (p.Thr1753Lys) c.5255C>A (p.Thr1752Lys) n.5341C>A | gnomAD v4 |
| 19 | g.38485913C= | CA2335046313 | RYR1 | c.5258C= (p.Thr1753=) c.5255C= (p.Thr1752=) n.5341C= | |
| 19 | g.38485913C>G | CA405654330 | RYR1 | c.5258C>G (p.Thr1753Arg) c.5255C>G (p.Thr1752Arg) n.5341C>G | |
| 19 | g.38485913C>T | CA308093442 | RYR1 | c.5258C>T (p.Thr1753Ile) c.5255C>T (p.Thr1752Ile) n.5341C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485914A>C | CA507353321 | RYR1 | c.5259A>C (p.Thr1753=) c.5256A>C (p.Thr1752=) n.5342A>C | |
| 19 | g.38485914A>G | CA507353320 | RYR1 | c.5259A>G (p.Thr1753=) c.5256A>G (p.Thr1752=) n.5342A>G | gnomAD v4 |
| 19 | g.38485914A>T | CA507353318 | RYR1 | c.5259A>T (p.Thr1753=) c.5256A>T (p.Thr1752=) n.5342A>T | |
| 19 | g.38485915G>A | CA405654332 | RYR1 | c.5260G>A (p.Glu1754Lys) c.5257G>A (p.Glu1753Lys) n.5343G>A | |
| 19 | g.38485915G>C | CA405654333 | RYR1 | c.5260G>C (p.Glu1754Gln) c.5257G>C (p.Glu1753Gln) n.5343G>C | |
| 19 | g.38485915G>T | CA405654334 | RYR1 | c.5260G>T (p.Glu1754Ter) c.5257G>T (p.Glu1753Ter) n.5343G>T | gnomAD v4 |
| 19 | g.38485916A= | CA2335046314 | RYR1 | c.5261A= (p.Glu1754=) c.5258A= (p.Glu1753=) n.5344A= | |
| 19 | g.38485916A>C | CA308093443 | RYR1 | c.5261A>C (p.Glu1754Ala) c.5258A>C (p.Glu1753Ala) n.5344A>C | dbSNP |
| 19 | g.38485916A>G | CA405654335 | RYR1 | c.5261A>G (p.Glu1754Gly) c.5258A>G (p.Glu1753Gly) n.5344A>G | |
| 19 | g.38485916A>T | CA405654337 | RYR1 | c.5261A>T (p.Glu1754Val) c.5258A>T (p.Glu1753Val) n.5344A>T | |
| 19 | g.38485917A>C | CA405654339 | RYR1 | c.5262A>C (p.Glu1754Asp) c.5259A>C (p.Glu1753Asp) n.5345A>C | |
| 19 | g.38485917A>G | CA507353326 | RYR1 | c.5262A>G (p.Glu1754=) c.5259A>G (p.Glu1753=) n.5345A>G | |
| 19 | g.38485917A>T | CA405654341 | RYR1 | c.5262A>T (p.Glu1754Asp) c.5259A>T (p.Glu1753Asp) n.5345A>T | |
| 19 | g.38485918_38485925dup | CA882053917 | RYR1 | c.5263_5270dup (p.His1757GlnfsTer18) c.5260_5267dup (p.His1756GlnfsTer18) n.5346_5353dup | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485918A>C | CA405654342 | RYR1 | c.5263A>C (p.Asn1755His) c.5260A>C (p.Asn1754His) n.5346A>C | |
| 19 | g.38485918A>G | CA405654344 | RYR1 | c.5263A>G (p.Asn1755Asp) c.5260A>G (p.Asn1754Asp) n.5346A>G | gnomAD v4 |
| 19 | g.38485918A>T | CA405654346 | RYR1 | c.5263A>T (p.Asn1755Tyr) c.5260A>T (p.Asn1754Tyr) n.5346A>T | |
| 19 | g.38485919A>C | CA405654347 | RYR1 | c.5264A>C (p.Asn1755Thr) c.5261A>C (p.Asn1754Thr) n.5347A>C | |
| 19 | g.38485919A>G | CA405654349 | RYR1 | c.5264A>G (p.Asn1755Ser) c.5261A>G (p.Asn1754Ser) n.5347A>G | |
| 19 | g.38485919A>T | CA405654350 | RYR1 | c.5264A>T (p.Asn1755Ile) c.5261A>T (p.Asn1754Ile) n.5347A>T | |
| 19 | g.38485920T>A | CA405654352 | RYR1 | c.5265T>A (p.Asn1755Lys) c.5262T>A (p.Asn1754Lys) n.5348T>A | |
| 19 | g.38485920T>C | CA507353328 | RYR1 | c.5265T>C (p.Asn1755=) c.5262T>C (p.Asn1754=) n.5348T>C | |
| 19 | g.38485920T>G | CA405654353 | RYR1 | c.5265T>G (p.Asn1755Lys) c.5262T>G (p.Asn1754Lys) n.5348T>G | |
| 19 | g.38485921G>A | CA405654356 | RYR1 | c.5266G>A (p.Gly1756Ser) c.5263G>A (p.Gly1755Ser) n.5349G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485921G>C | CA405654357 | RYR1 | c.5266G>C (p.Gly1756Arg) c.5263G>C (p.Gly1755Arg) n.5349G>C | |
| 19 | g.38485921G= | CA2335046315 | RYR1 | c.5266G= (p.Gly1756=) c.5263G= (p.Gly1755=) n.5349G= | |
| 19 | g.38485921G>T | CA405654355 | RYR1 | c.5266G>T (p.Gly1756Cys) c.5263G>T (p.Gly1755Cys) n.5349G>T | |
| 19 | g.38485922G>A | CA405654358 | RYR1 | c.5267G>A (p.Gly1756Asp) c.5264G>A (p.Gly1755Asp) n.5350G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485922G>C | CA405654360 | RYR1 | c.5267G>C (p.Gly1756Ala) c.5264G>C (p.Gly1755Ala) n.5350G>C | |
| 19 | g.38485922G= | CA2335046316 | RYR1 | c.5267G= (p.Gly1756=) c.5264G= (p.Gly1755=) n.5350G= | |
| 19 | g.38485922G>T | CA405654362 | RYR1 | c.5267G>T (p.Gly1756Val) c.5264G>T (p.Gly1755Val) n.5350G>T | gnomAD v4 |
| 19 | g.38485923T>A | CA507353332 | RYR1 | c.5268T>A (p.Gly1756=) c.5265T>A (p.Gly1755=) n.5351T>A | |
| 19 | g.38485923T>C | CA507353333 | RYR1 | c.5268T>C (p.Gly1756=) c.5265T>C (p.Gly1755=) n.5351T>C | dbSNP |
| 19 | g.38485923T>G | CA507353335 | RYR1 | c.5268T>G (p.Gly1756=) c.5265T>G (p.Gly1755=) n.5351T>G | |
| 19 | g.38485923T= | CA2335046317 | RYR1 | c.5268T= (p.Gly1756=) c.5265T= (p.Gly1755=) n.5351T= | |
| 19 | g.38485924C>A | CA405654363 | RYR1 | c.5269C>A (p.His1757Asn) c.5266C>A (p.His1756Asn) n.5352C>A | |
| 19 | g.38485924C>G | CA405654365 | RYR1 | c.5269C>G (p.His1757Asp) c.5266C>G (p.His1756Asp) n.5352C>G | |
| 19 | g.38485924C>T | CA405654366 | RYR1 | c.5269C>T (p.His1757Tyr) c.5266C>T (p.His1756Tyr) n.5352C>T | |
| 19 | g.38485925A= | CA2335046318 | RYR1 | c.5270A= (p.His1757=) c.5267A= (p.His1756=) n.5353A= | |
| 19 | g.38485925A>C | CA405654368 | RYR1 | c.5270A>C (p.His1757Pro) c.5267A>C (p.His1756Pro) n.5353A>C | dbSNP |
| 19 | g.38485925A>G | CA405654369 | RYR1 | c.5270A>G (p.His1757Arg) c.5267A>G (p.His1756Arg) n.5353A>G | |
| 19 | g.38485925A>T | CA405654371 | RYR1 | c.5270A>T (p.His1757Leu) c.5267A>T (p.His1756Leu) n.5353A>T | gnomAD v4 |
| 19 | g.38485926C>A | CA066826 | RYR1 | c.5271C>A (p.His1757Gln) c.5268C>A (p.His1756Gln) n.5354C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485926C= | CA2335046320 | RYR1 | c.5271C= (p.His1757=) c.5268C= (p.His1756=) n.5354C= | |
| 19 | g.38485926C>G | CA405654373 | RYR1 | c.5271C>G (p.His1757Gln) c.5268C>G (p.His1756Gln) n.5354C>G | |
| 19 | g.38485926C>T | CA066829 | RYR1 | c.5271C>T (p.His1757=) c.5268C>T (p.His1756=) n.5354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485930dup | CA2335046319 | RYR1 | c.5275dup (p.Arg1759ProfsTer?) c.5272dup (p.Arg1758ProfsTer?) n.5358dup | dbSNP |
| 19 | g.38485930del | CA645615240 | RYR1 | c.5275del (p.Arg1759GlyfsTer13) c.5272del (p.Arg1758GlyfsTer13) n.5358del | COSMIC |
| 19 | g.38485927C>A | CA405654379 | RYR1 | c.5272C>A (p.Pro1758Thr) c.5269C>A (p.Pro1757Thr) n.5355C>A | gnomAD v4 |
| 19 | g.38485927C>G | CA405654381 | RYR1 | c.5272C>G (p.Pro1758Ala) c.5269C>G (p.Pro1757Ala) n.5355C>G | |
| 19 | g.38485927C>T | CA405654378 | RYR1 | c.5272C>T (p.Pro1758Ser) c.5269C>T (p.Pro1757Ser) n.5355C>T | gnomAD v4 |
| 19 | g.38485928C>A | CA405654384 | RYR1 | c.5273C>A (p.Pro1758His) c.5270C>A (p.Pro1757His) n.5356C>A | |
| 19 | g.38485928C= | CA2335046321 | RYR1 | c.5273C= (p.Pro1758=) c.5270C= (p.Pro1757=) n.5356C= | |
| 19 | g.38485928C>G | CA405654386 | RYR1 | c.5273C>G (p.Pro1758Arg) c.5270C>G (p.Pro1757Arg) n.5356C>G | gnomAD v4 |
| 19 | g.38485928C>T | CA066833 | RYR1 | c.5273C>T (p.Pro1758Leu) c.5270C>T (p.Pro1757Leu) n.5356C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485929C>A | CA081746 | RYR1 | c.5274C>A (p.Pro1758=) c.5271C>A (p.Pro1757=) n.5357C>A | |
| 19 | g.38485929C>G | CA507353341 | RYR1 | c.5274C>G (p.Pro1758=) c.5271C>G (p.Pro1757=) n.5357C>G | |
| 19 | g.38485929C>T | CA081747 | RYR1 | c.5274C>T (p.Pro1758=) c.5271C>T (p.Pro1757=) n.5357C>T | |
| 19 | g.38485930C>A | CA507353343 | RYR1 | c.5275C>A (p.Arg1759=) c.5272C>A (p.Arg1758=) n.5358C>A | |
| 19 | g.38485930C= | CA2335046322 | RYR1 | c.5275C= (p.Arg1759=) c.5272C= (p.Arg1758=) n.5358C= | |
| 19 | g.38485930C>G | CA405654390 | RYR1 | c.5275C>G (p.Arg1759Gly) c.5272C>G (p.Arg1758Gly) n.5358C>G | dbSNP |
| 19 | g.38485930C>T | CA066837 | RYR1 | c.5275C>T (p.Arg1759Trp) c.5272C>T (p.Arg1758Trp) n.5358C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485931G>A | CA066838 | RYR1 | c.5276G>A (p.Arg1759Gln) c.5273G>A (p.Arg1758Gln) n.5359G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485931G>C | CA308093475 | RYR1 | c.5276G>C (p.Arg1759Pro) c.5273G>C (p.Arg1758Pro) n.5359G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485931G= | CA2335046323 | RYR1 | c.5276G= (p.Arg1759=) c.5273G= (p.Arg1758=) n.5359G= | |
| 19 | g.38485931G>T | CA405654395 | RYR1 | c.5276G>T (p.Arg1759Leu) c.5273G>T (p.Arg1758Leu) n.5359G>T | gnomAD v4 |
| 19 | g.38485932G>A | CA507353344 | RYR1 | c.5277G>A (p.Arg1759=) c.5274G>A (p.Arg1758=) n.5360G>A | ClinVar dbSNP |
| 19 | g.38485932G>C | CA507353345 | RYR1 | c.5277G>C (p.Arg1759=) c.5274G>C (p.Arg1758=) n.5360G>C | |
| 19 | g.38485932G>T | CA507353346 | RYR1 | c.5277G>T (p.Arg1759=) c.5274G>T (p.Arg1758=) n.5360G>T | |
| 19 | g.38485933C>A | CA405654399 | RYR1 | c.5278C>A (p.His1760Asn) c.5275C>A (p.His1759Asn) n.5361C>A | COSMIC |
| 19 | g.38485933C= | CA2335046324 | RYR1 | c.5278C= (p.His1760=) c.5275C= (p.His1759=) n.5361C= | |
| 19 | g.38485933C>G | CA405654402 | RYR1 | c.5278C>G (p.His1760Asp) c.5275C>G (p.His1759Asp) n.5361C>G | |
| 19 | g.38485933C>T | CA066844 | RYR1 | c.5278C>T (p.His1760Tyr) c.5275C>T (p.His1759Tyr) n.5361C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485934A= | CA2335046325 | RYR1 | c.5279A= (p.His1760=) c.5276A= (p.His1759=) n.5362A= | |
| 19 | g.38485934A>C | CA405654406 | RYR1 | c.5279A>C (p.His1760Pro) c.5276A>C (p.His1759Pro) n.5362A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485934A>G | CA066848 | RYR1 | c.5279A>G (p.His1760Arg) c.5276A>G (p.His1759Arg) n.5362A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485934A>T | CA066849 | RYR1 | c.5279A>T (p.His1760Leu) c.5276A>T (p.His1759Leu) n.5362A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485935T>A | CA405654422 | RYR1 | c.5280T>A (p.His1760Gln) c.5277T>A (p.His1759Gln) n.5363T>A | |
| 19 | g.38485935T>C | CA507353348 | RYR1 | c.5280T>C (p.His1760=) c.5277T>C (p.His1759=) n.5363T>C | |
| 19 | g.38485935T>G | CA405654420 | RYR1 | c.5280T>G (p.His1760Gln) c.5277T>G (p.His1759Gln) n.5363T>G | |
| 19 | g.38485936G>A | CA308093518 | RYR1 | c.5281G>A (p.Gly1761Ser) c.5278G>A (p.Gly1760Ser) n.5364G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485936G>C | CA405654433 | RYR1 | c.5281G>C (p.Gly1761Arg) c.5278G>C (p.Gly1760Arg) n.5364G>C | |
| 19 | g.38485936G= | CA2335046326 | RYR1 | c.5281G= (p.Gly1761=) c.5278G= (p.Gly1760=) n.5364G= | |
| 19 | g.38485936G>T | CA405654430 | RYR1 | c.5281G>T (p.Gly1761Cys) c.5278G>T (p.Gly1760Cys) n.5364G>T | gnomAD v4 |
| 19 | g.38485937G>A | CA405654436 | RYR1 | c.5282G>A (p.Gly1761Asp) c.5279G>A (p.Gly1760Asp) n.5365G>A | ClinVar gnomAD v2 gnomAD v4 |
| 19 | g.38485937G>C | CA405654441 | RYR1 | c.5282G>C (p.Gly1761Ala) c.5279G>C (p.Gly1760Ala) n.5365G>C | |
| 19 | g.38485937G>T | CA405654438 | RYR1 | c.5282G>T (p.Gly1761Val) c.5279G>T (p.Gly1760Val) n.5365G>T | gnomAD v4 |
| 19 | g.38485938C>A | CA507353350 | RYR1 | c.5283C>A (p.Gly1761=) c.5280C>A (p.Gly1760=) n.5366C>A | |
| 19 | g.38485938C= | CA2335046327 | RYR1 | c.5283C= (p.Gly1761=) c.5280C= (p.Gly1760=) n.5366C= | |
| 19 | g.38485938C>G | CA507353351 | RYR1 | c.5283C>G (p.Gly1761=) c.5280C>G (p.Gly1760=) n.5366C>G | ClinVar gnomAD v4 |
| 19 | g.38485938C>T | CA066853 | RYR1 | c.5283C>T (p.Gly1761=) c.5280C>T (p.Gly1760=) n.5366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485939C>A | CA405654447 | RYR1 | c.5284C>A (p.Leu1762Met) c.5281C>A (p.Leu1761Met) n.5367C>A | gnomAD v4 |
| 19 | g.38485939C>G | CA405654448 | RYR1 | c.5284C>G (p.Leu1762Val) c.5281C>G (p.Leu1761Val) n.5367C>G | |
| 19 | g.38485939C>T | CA507353353 | RYR1 | c.5284C>T (p.Leu1762=) c.5281C>T (p.Leu1761=) n.5367C>T | gnomAD v4 |
| 19 | g.38485940T>A | CA405654450 | RYR1 | c.5285T>A (p.Leu1762Gln) c.5282T>A (p.Leu1761Gln) n.5368T>A | |
| 19 | g.38485940T>C | CA405654452 | RYR1 | c.5285T>C (p.Leu1762Pro) c.5282T>C (p.Leu1761Pro) n.5368T>C | |
| 19 | g.38485940T>G | CA405654455 | RYR1 | c.5285T>G (p.Leu1762Arg) c.5282T>G (p.Leu1761Arg) n.5368T>G | |
| 19 | g.38485941G>A | CA507353355 | RYR1 | c.5286G>A (p.Leu1762=) c.5283G>A (p.Leu1761=) n.5369G>A | |
| 19 | g.38485941G>C | CA507353357 | RYR1 | c.5286G>C (p.Leu1762=) c.5283G>C (p.Leu1761=) n.5369G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485941G= | CA2335046328 | RYR1 | c.5286G= (p.Leu1762=) c.5283G= (p.Leu1761=) n.5369G= | |
| 19 | g.38485941G>T | CA507353356 | RYR1 | c.5286G>T (p.Leu1762=) c.5283G>T (p.Leu1761=) n.5369G>T | |
| 19 | g.38485942C>A | CA405654459 | RYR1 | c.5287C>A (p.Pro1763Thr) c.5284C>A (p.Pro1762Thr) n.5370C>A | |
| 19 | g.38485942C= | CA2335046329 | RYR1 | c.5287C= (p.Pro1763=) c.5284C= (p.Pro1762=) n.5370C= | |
| 19 | g.38485942C>G | CA405654461 | RYR1 | c.5287C>G (p.Pro1763Ala) c.5284C>G (p.Pro1762Ala) n.5370C>G | |
| 19 | g.38485942C>T | CA066855 | RYR1 | c.5287C>T (p.Pro1763Ser) c.5284C>T (p.Pro1762Ser) n.5370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485943C>A | CA405654467 | RYR1 | c.5288C>A (p.Pro1763Gln) c.5285C>A (p.Pro1762Gln) n.5371C>A | |
| 19 | g.38485943C= | CA2335046330 | RYR1 | c.5288C= (p.Pro1763=) c.5285C= (p.Pro1762=) n.5371C= | |
| 19 | g.38485943C>G | CA405654469 | RYR1 | c.5288C>G (p.Pro1763Arg) c.5285C>G (p.Pro1762Arg) n.5371C>G | |
| 19 | g.38485943C>T | CA405654473 | RYR1 | c.5288C>T (p.Pro1763Leu) c.5285C>T (p.Pro1762Leu) n.5371C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485944G>A | CA066858 | RYR1 | c.5289G>A (p.Pro1763=) c.5286G>A (p.Pro1762=) n.5372G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485944G>C | CA066863 | RYR1 | c.5289G>C (p.Pro1763=) c.5286G>C (p.Pro1762=) n.5372G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485944G= | CA2335046331 | RYR1 | c.5289G= (p.Pro1763=) c.5286G= (p.Pro1762=) n.5372G= | |
| 19 | g.38485944G>T | CA507353359 | RYR1 | c.5289G>T (p.Pro1763=) c.5286G>T (p.Pro1762=) n.5372G>T | |
| 19 | g.38485945G>A | CA405654481 | RYR1 | c.5290G>A (p.Gly1764Arg) c.5287G>A (p.Gly1763Arg) n.5373G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485945G>C | CA405654483 | RYR1 | c.5290G>C (p.Gly1764Arg) c.5287G>C (p.Gly1763Arg) n.5373G>C | |
| 19 | g.38485945G= | CA2335046332 | RYR1 | c.5290G= (p.Gly1764=) c.5287G= (p.Gly1763=) n.5373G= | |
| 19 | g.38485945G>T | CA405654487 | RYR1 | c.5290G>T (p.Gly1764Ter) c.5287G>T (p.Gly1763Ter) n.5373G>T | dbSNP gnomAD v2 |