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.38446566_38446693del | CA2814333045 | RYR1 | c.725+1_726-1del n.808+1_809-1del | |
| 19 | g.38446633G>A | CA2576770287 | RYR1 | c.726-61G>A (n.726-61G>A) n.809-61G>A | |
| 19 | g.38446634G>T | CA2584893056 | RYR1 | c.726-60G>T (n.726-60G>T) n.809-60G>T | gnomAD v4 |
| 19 | g.38446635A>G | CA2576770288 | RYR1 | c.726-59A>G (n.726-59A>G) n.809-59A>G | |
| 19 | g.38446636T>C | CA2736028296 | RYR1 | c.726-58T>C (n.726-58T>C) n.809-58T>C | dbSNP |
| 19 | g.38446637del | CA2584893057 | RYR1 | c.726-57del (n.726-57del) n.809-57del | gnomAD v4 |
| 19 | g.38446638A>G | CA2584893058 | RYR1 | c.726-56A>G (n.726-56A>G) n.809-56A>G | dbSNP gnomAD v4 |
| 19 | g.38446641del | CA2584893059 | RYR1 | c.726-53del (n.726-53del) n.809-53del | gnomAD v4 |
| 19 | g.38446640G>A | CA995710853 | RYR1 | c.726-54G>A (n.726-54G>A) n.809-54G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446640G= | CA2335027166 | RYR1 | c.726-54G= (n.726-54G=) n.809-54G= | |
| 19 | g.38446641G>A | CA2335027168 | RYR1 | c.726-53G>A (n.726-53G>A) n.809-53G>A | dbSNP |
| 19 | g.38446641G= | CA2335027167 | RYR1 | c.726-53G= (n.726-53G=) n.809-53G= | |
| 19 | g.38446642A= | CA2335027169 | RYR1 | c.726-52A= (n.726-52A=) n.809-52A= | |
| 19 | g.38446642A>G | CA308114297 | RYR1 | c.726-52A>G (n.726-52A>G) n.809-52A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446643C>G | CA2576770292 | RYR1 | c.726-51C>G (n.726-51C>G) n.809-51C>G | |
| 19 | g.38446643C>T | CA2576770293 | RYR1 | c.726-51C>T (n.726-51C>T) n.809-51C>T | gnomAD v4 |
| 19 | g.38446644C= | CA2335027170 | RYR1 | c.726-50C= (n.726-50C=) n.809-50C= | |
| 19 | g.38446644C>T | CA633065952 | RYR1 | c.726-50C>T (n.726-50C>T) n.809-50C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446645A= | CA2335027171 | RYR1 | c.726-49A= (n.726-49A=) n.809-49A= | |
| 19 | g.38446645A>G | CA2335027172 | RYR1 | c.726-49A>G (n.726-49A>G) n.809-49A>G | dbSNP gnomAD v4 |
| 19 | g.38446646G>C | CA2584893060 | RYR1 | c.726-48G>C (n.726-48G>C) n.809-48G>C | gnomAD v4 |
| 19 | g.38446648T>A | CA2582145069 | RYR1 | c.726-46T>A (n.726-46T>A) n.809-46T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446649T>A | CA2584893061 | RYR1 | c.726-45T>A (n.726-45T>A) n.809-45T>A | gnomAD v4 |
| 19 | g.38446650C>A | CA2814333048 | RYR1 | c.726-44C>A (n.726-44C>A) n.809-44C>A | |
| 19 | g.38446650C= | CA2335027173 | RYR1 | c.726-44C= (n.726-44C=) n.809-44C= | |
| 19 | g.38446650C>G | CA633065953 | RYR1 | c.726-44C>G (n.726-44C>G) n.809-44C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446651C= | CA2335027174 | RYR1 | c.726-43C= (n.726-43C=) n.809-43C= | |
| 19 | g.38446651C>T | CA069430 | RYR1 | c.726-43C>T (n.726-43C>T) n.809-43C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446652G>A | CA069426 | RYR1 | c.726-42G>A (n.726-42G>A) n.809-42G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446652G>C | CA2584893062 | RYR1 | c.726-42G>C (n.726-42G>C) n.809-42G>C | gnomAD v4 |
| 19 | g.38446652G= | CA2335027175 | RYR1 | c.726-42G= (n.726-42G=) n.809-42G= | |
| 19 | g.38446653G>A | CA2814333050 | RYR1 | c.726-41G>A (n.726-41G>A) n.809-41G>A | |
| 19 | g.38446653G>T | CA2576770299 | RYR1 | c.726-41G>T (n.726-41G>T) n.809-41G>T | |
| 19 | g.38446655G>A | CA2576770302 | RYR1 | c.726-39G>A (n.726-39G>A) n.809-39G>A | gnomAD v4 |
| 19 | g.38446656A>T | CA2584893063 | RYR1 | c.726-38A>T (n.726-38A>T) n.809-38A>T | gnomAD v4 |
| 19 | g.38446659T>G | CA633065954 | RYR1 | c.726-35T>G (n.726-35T>G) n.809-35T>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446659T= | CA2335027176 | RYR1 | c.726-35T= (n.726-35T=) n.809-35T= | |
| 19 | g.38446660G>A | CA069422 | RYR1 | c.726-34G>A (n.726-34G>A) n.809-34G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446660G= | CA2335027177 | RYR1 | c.726-34G= (n.726-34G=) n.809-34G= | |
| 19 | g.38446661_38446666del | CA2814333051 | RYR1 | c.726-33_726-28del (n.726-33_726-28del) n.809-33_809-28del | |
| 19 | g.38446662A>G | CA2584893064 | RYR1 | c.726-32A>G (n.726-32A>G) n.809-32A>G | gnomAD v4 |
| 19 | g.38446663C>A | CA308114318 | RYR1 | c.726-31C>A (n.726-31C>A) n.809-31C>A | dbSNP gnomAD v4 |
| 19 | g.38446663C= | CA2335027178 | RYR1 | c.726-31C= (n.726-31C=) n.809-31C= | |
| 19 | g.38446663C>T | CA2584893065 | RYR1 | c.726-31C>T (n.726-31C>T) n.809-31C>T | dbSNP gnomAD v4 |
| 19 | g.38446664C>A | CA2576770304 | RYR1 | c.726-30C>A (n.726-30C>A) n.809-30C>A | |
| 19 | g.38446665C>G | CA2584893066 | RYR1 | c.726-29C>G (n.726-29C>G) n.809-29C>G | gnomAD v4 |
| 19 | g.38446668G>T | CA2584893067 | RYR1 | c.726-26G>T (n.726-26G>T) n.809-26G>T | gnomAD v4 |
| 19 | g.38446669_38446705del | CA2814333052 | RYR1 | c.726-25_737del n.809-25_820del | |
| 19 | g.38446670C= | CA2335027179 | RYR1 | c.726-24C= (n.726-24C=) n.809-24C= | |
| 19 | g.38446670C>T | CA069418 | RYR1 | c.726-24C>T (n.726-24C>T) n.809-24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446672T>A | CA2584893068 | RYR1 | c.726-22T>A (n.726-22T>A) n.809-22T>A | gnomAD v4 |
| 19 | g.38446673C= | CA2335027180 | RYR1 | c.726-21C= (n.726-21C=) n.809-21C= | |
| 19 | g.38446673C>G | CA069414 | RYR1 | c.726-21C>G (n.726-21C>G) n.809-21C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446673C>T | CA2584893069 | RYR1 | c.726-21C>T (n.726-21C>T) n.809-21C>T | dbSNP gnomAD v4 |
| 19 | g.38446675C>A | CA2736028375 | RYR1 | c.726-19C>A (n.726-19C>A) n.809-19C>A | dbSNP |
| 19 | g.38446675C>T | CA2576770307 | RYR1 | c.726-19C>T (n.726-19C>T) n.809-19C>T | |
| 19 | g.38446677C>A | CA2736028406 | RYR1 | c.726-17C>A (n.726-17C>A) n.809-17C>A | dbSNP |
| 19 | g.38446677C>G | CA2584893070 | RYR1 | c.726-17C>G (n.726-17C>G) n.809-17C>G | gnomAD v4 |
| 19 | g.38446678T>C | CA308114341 | RYR1 | c.726-16T>C (n.726-16T>C) n.809-16T>C | dbSNP |
| 19 | g.38446678T= | CA2335027181 | RYR1 | c.726-16T= (n.726-16T=) n.809-16T= | |
| 19 | g.38446679C= | CA2335027182 | RYR1 | c.726-15C= (n.726-15C=) n.809-15C= | |
| 19 | g.38446679C>G | CA308114344 | RYR1 | c.726-15C>G (n.726-15C>G) n.809-15C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446681del | CA2576770311 | RYR1 | c.726-13del (n.726-13del) n.809-13del | |
| 19 | g.38446682C= | CA2335027183 | RYR1 | c.726-12C= (n.726-12C=) n.809-12C= | |
| 19 | g.38446682C>G | CA069409 | RYR1 | c.726-12C>G (n.726-12C>G) n.809-12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446684G>A | CA633065955 | RYR1 | c.726-10G>A (n.726-10G>A) n.809-10G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446684G= | CA2335027184 | RYR1 | c.726-10G= (n.726-10G=) n.809-10G= | |
| 19 | g.38446689C>T | CA2499225462 | RYR1 | c.726-5C>T (n.726-5C>T) n.809-5C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38446690C>T | CA2584893071 | RYR1 | c.726-4C>T (n.726-4C>T) n.809-4C>T | gnomAD v4 |
| 19 | g.38446692A>C | CA405680021 | RYR1 | c.726-2A>C (n.726-2A>C) n.809-2A>C | |
| 19 | g.38446692A>G | CA405680024 | RYR1 | c.726-2A>G (n.726-2A>G) n.809-2A>G | |
| 19 | g.38446692A>T | CA405680030 | RYR1 | c.726-2A>T (n.726-2A>T) n.809-2A>T | |
| 19 | g.38446693G>A | CA405680031 | RYR1 | c.726-1G>A (n.726-1G>A) n.809-1G>A | |
| 19 | g.38446693G>C | CA405680033 | RYR1 | c.726-1G>C (n.726-1G>C) n.809-1G>C | |
| 19 | g.38446693G>T | CA405680037 | RYR1 | c.726-1G>T (n.726-1G>T) n.809-1G>T | |
| 19 | g.38446694A= | CA2335027185 | RYR1 | c.726A= (p.Arg242=) n.809A= | |
| 19 | g.38446694A>C | CA405680049 | RYR1 | c.726A>C (p.Arg242Ser) n.809A>C | |
| 19 | g.38446694A>G | CA069441 | RYR1 | c.726A>G (p.Arg242=) n.809A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446694A>T | CA405680041 | RYR1 | c.726A>T (p.Arg242Ser) n.809A>T | |
| 19 | g.38446695C>A | CA405680054 | RYR1 | c.727C>A (p.Leu243Ile) n.810C>A | |
| 19 | g.38446695C= | CA2335027186 | RYR1 | c.727C= (p.Leu243=) n.810C= | |
| 19 | g.38446695C>G | CA405680063 | RYR1 | c.727C>G (p.Leu243Val) n.810C>G | |
| 19 | g.38446695C>T | CA405680065 | RYR1 | c.727C>T (p.Leu243Phe) n.810C>T | dbSNP COSMIC |
| 19 | g.38446696T>A | CA405680077 | RYR1 | c.728T>A (p.Leu243His) n.811T>A | |
| 19 | g.38446696T>C | CA405680078 | RYR1 | c.728T>C (p.Leu243Pro) n.811T>C | |
| 19 | g.38446696T>G | CA405680079 | RYR1 | c.728T>G (p.Leu243Arg) n.811T>G | |
| 19 | g.38446697T>A | CA507241525 | RYR1 | c.729T>A (p.Leu243=) n.812T>A | |
| 19 | g.38446697T>C | CA507241526 | RYR1 | c.729T>C (p.Leu243=) n.812T>C | |
| 19 | g.38446697T>G | CA507241527 | RYR1 | c.729T>G (p.Leu243=) n.812T>G | |
| 19 | g.38446698G>A | CA405680080 | RYR1 | c.730G>A (p.Val244Ile) n.813G>A | |
| 19 | g.38446698G>C | CA405680083 | RYR1 | c.730G>C (p.Val244Leu) n.813G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446698G= | CA2335027187 | RYR1 | c.730G= (p.Val244=) n.813G= | |
| 19 | g.38446698G>T | CA405680087 | RYR1 | c.730G>T (p.Val244Phe) n.813G>T | COSMIC |
| 19 | g.38446699T>A | CA405680093 | RYR1 | c.731T>A (p.Val244Asp) n.814T>A | |
| 19 | g.38446699T>C | CA069478 | RYR1 | c.731T>C (p.Val244Ala) n.814T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446699T>G | CA405680096 | RYR1 | c.731T>G (p.Val244Gly) n.814T>G | |
| 19 | g.38446699T= | CA2335027188 | RYR1 | c.731T= (p.Val244=) n.814T= | |
| 19 | g.38446700C>A | CA507241531 | RYR1 | c.732C>A (p.Val244=) n.815C>A | |
| 19 | g.38446700C= | CA2335027189 | RYR1 | c.732C= (p.Val244=) n.815C= | |
| 19 | g.38446700C>G | CA507241533 | RYR1 | c.732C>G (p.Val244=) n.815C>G | |
| 19 | g.38446700C>T | CA507241532 | RYR1 | c.732C>T (p.Val244=) n.815C>T | dbSNP |
| 19 | g.38446701T>A | CA405680110 | RYR1 | c.733T>A (p.Tyr245Asn) n.816T>A | |
| 19 | g.38446701T>C | CA405680114 | RYR1 | c.733T>C (p.Tyr245His) n.816T>C | |
| 19 | g.38446701T>G | CA405680102 | RYR1 | c.733T>G (p.Tyr245Asp) n.816T>G | |
| 19 | g.38446702A= | CA2335027190 | RYR1 | c.734A= (p.Tyr245=) n.817A= | |
| 19 | g.38446702A>C | CA405680119 | RYR1 | c.734A>C (p.Tyr245Ser) n.817A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446702A>G | CA405680127 | RYR1 | c.734A>G (p.Tyr245Cys) n.817A>G | gnomAD v4 |
| 19 | g.38446702A>T | CA405680129 | RYR1 | c.734A>T (p.Tyr245Phe) n.817A>T | |
| 19 | g.38446703C>A | CA405680132 | RYR1 | c.735C>A (p.Tyr245Ter) n.818C>A | |
| 19 | g.38446703C>G | CA405680148 | RYR1 | c.735C>G (p.Tyr245Ter) n.818C>G | ClinVar |
| 19 | g.38446703C>T | CA507241534 | RYR1 | c.735C>T (p.Tyr245=) n.818C>T | |
| 19 | g.38446704T>A | CA405680151 | RYR1 | c.736T>A (p.Tyr246Asn) n.819T>A | |
| 19 | g.38446704T>C | CA405680153 | RYR1 | c.736T>C (p.Tyr246His) n.819T>C | |
| 19 | g.38446704T>G | CA405680154 | RYR1 | c.736T>G (p.Tyr246Asp) n.819T>G | |
| 19 | g.38446705A= | CA2335027191 | RYR1 | c.737A= (p.Tyr246=) n.820A= | |
| 19 | g.38446705A>C | CA405680155 | RYR1 | c.737A>C (p.Tyr246Ser) n.820A>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446705A>G | CA308114368 | RYR1 | c.737A>G (p.Tyr246Cys) n.820A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38446705A>T | CA405680159 | RYR1 | c.737A>T (p.Tyr246Phe) n.820A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446706T>A | CA405680162 | RYR1 | c.738T>A (p.Tyr246Ter) n.821T>A | |
| 19 | g.38446706T>C | CA507241535 | RYR1 | c.738T>C (p.Tyr246=) n.821T>C | ClinVar |
| 19 | g.38446706T>G | CA024790 | RYR1 | c.738T>G (p.Tyr246Ter) n.821T>G | ClinVar dbSNP |
| 19 | g.38446706T= | CA2335027192 | RYR1 | c.738T= (p.Tyr246=) n.821T= | |
| 19 | g.38446707G>A | CA405680172 | RYR1 | c.739G>A (p.Glu247Lys) n.822G>A | dbSNP gnomAD v4 COSMIC |
| 19 | g.38446707G>C | CA405680170 | RYR1 | c.739G>C (p.Glu247Gln) n.822G>C | |
| 19 | g.38446707G= | CA2335027193 | RYR1 | c.739G= (p.Glu247=) n.822G= | |
| 19 | g.38446707G>T | CA405680167 | RYR1 | c.739G>T (p.Glu247Ter) n.822G>T | |
| 19 | g.38446708A= | CA2335027194 | RYR1 | c.740A= (p.Glu247=) n.823A= | |
| 19 | g.38446708A>C | CA405680174 | RYR1 | c.740A>C (p.Glu247Ala) n.823A>C | |
| 19 | g.38446708A>G | CA405680176 | RYR1 | c.740A>G (p.Glu247Gly) n.823A>G | |
| 19 | g.38446708A>T | CA405680179 | RYR1 | c.740A>T (p.Glu247Val) n.823A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446709G>A | CA507241537 | RYR1 | c.741G>A (p.Glu247=) n.824G>A | dbSNP gnomAD v4 |
| 19 | g.38446709G>C | CA405680184 | RYR1 | c.741G>C (p.Glu247Asp) n.824G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38446709G= | CA2335027195 | RYR1 | c.741G= (p.Glu247=) n.824G= | |
| 19 | g.38446709G>T | CA405680189 | RYR1 | c.741G>T (p.Glu247Asp) n.824G>T | dbSNP gnomAD v4 |
| 19 | g.38446714dup | CA069608 | RYR1 | c.746dup (p.Ala250SerfsTer?) n.829dup | dbSNP ExAC gnomAD v2 |
| 19 | g.38446710G>A | CA024797 | RYR1 | c.742G>A (p.Gly248Arg) n.825G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38446710G>C | CA024799 | RYR1 | c.742G>C (p.Gly248Arg) n.825G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446710G= | CA2335027196 | RYR1 | c.742G= (p.Gly248=) n.825G= | |
| 19 | g.38446710G>T | CA069619 | RYR1 | c.742G>T (p.Gly248Trp) n.825G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446711G>A | CA308114409 | RYR1 | c.743G>A (p.Gly248Glu) n.826G>A | dbSNP gnomAD v4 |
| 19 | g.38446711G>C | CA405680210 | RYR1 | c.743G>C (p.Gly248Ala) n.826G>C | ClinVar dbSNP |
| 19 | g.38446711G= | CA2335027197 | RYR1 | c.743G= (p.Gly248=) n.826G= | |
| 19 | g.38446711G>T | CA405680213 | RYR1 | c.743G>T (p.Gly248Val) n.826G>T | gnomAD v4 |
| 19 | g.38446712G>A | CA507241538 | RYR1 | c.744G>A (p.Gly248=) n.827G>A | dbSNP gnomAD v4 |
| 19 | g.38446712G>C | CA507241539 | RYR1 | c.744G>C (p.Gly248=) n.827G>C | ClinVar gnomAD v4 |
| 19 | g.38446712G= | CA2335027198 | RYR1 | c.744G= (p.Gly248=) n.827G= | |
| 19 | g.38446712G>T | CA507241541 | RYR1 | c.744G>T (p.Gly248=) n.827G>T | |
| 19 | g.38446713G>A | CA405680222 | RYR1 | c.745G>A (p.Gly249Arg) n.828G>A | |
| 19 | g.38446713G>C | CA405680219 | RYR1 | c.745G>C (p.Gly249Arg) n.828G>C | |
| 19 | g.38446713G>T | CA405680216 | RYR1 | c.745G>T (p.Gly249Ter) n.828G>T | |
| 19 | g.38446714G>A | CA405680225 | RYR1 | c.746G>A (p.Gly249Glu) n.829G>A | COSMIC |
| 19 | g.38446714G>C | CA405680232 | RYR1 | c.746G>C (p.Gly249Ala) n.829G>C | |
| 19 | g.38446714G>T | CA405680230 | RYR1 | c.746G>T (p.Gly249Val) n.829G>T | |
| 19 | g.38446715A>C | CA507241542 | RYR1 | c.747A>C (p.Gly249=) n.830A>C | gnomAD v4 |
| 19 | g.38446715A>G | CA507241544 | RYR1 | c.747A>G (p.Gly249=) n.830A>G | ClinVar dbSNP |
| 19 | g.38446715A>T | CA507241546 | RYR1 | c.747A>T (p.Gly249=) n.830A>T | |
| 19 | g.38446716G>A | CA405680244 | RYR1 | c.748G>A (p.Ala250Thr) n.831G>A | |
| 19 | g.38446716G>C | CA405680245 | RYR1 | c.748G>C (p.Ala250Pro) n.831G>C | |
| 19 | g.38446716G>T | CA405680246 | RYR1 | c.748G>T (p.Ala250Ser) n.831G>T | |
| 19 | g.38446717C>A | CA405680247 | RYR1 | c.749C>A (p.Ala250Asp) n.832C>A | COSMIC |
| 19 | g.38446717C= | CA2335027199 | RYR1 | c.749C= (p.Ala250=) n.832C= | |
| 19 | g.38446717C>G | CA405680248 | RYR1 | c.749C>G (p.Ala250Gly) n.832C>G | |
| 19 | g.38446717C>T | CA405680249 | RYR1 | c.749C>T (p.Ala250Val) n.832C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446718T>A | CA507241549 | RYR1 | c.750T>A (p.Ala250=) n.833T>A | |
| 19 | g.38446718T>C | CA507241550 | RYR1 | c.750T>C (p.Ala250=) n.833T>C | dbSNP |
| 19 | g.38446718T>G | CA507241551 | RYR1 | c.750T>G (p.Ala250=) n.833T>G | |
| 19 | g.38446718T= | CA2335027200 | RYR1 | c.750T= (p.Ala250=) n.833T= | |
| 19 | g.38446719G>A | CA405680252 | RYR1 | c.751G>A (p.Val251Met) n.834G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38446719G>C | CA405680254 | RYR1 | c.751G>C (p.Val251Leu) n.834G>C | |
| 19 | g.38446719G= | CA2335027201 | RYR1 | c.751G= (p.Val251=) n.834G= | |
| 19 | g.38446719G>T | CA405680259 | RYR1 | c.751G>T (p.Val251Leu) n.834G>T | |
| 19 | g.38446720T>A | CA405680260 | RYR1 | c.752T>A (p.Val251Glu) n.835T>A | |
| 19 | g.38446720T>C | CA405680261 | RYR1 | c.752T>C (p.Val251Ala) n.835T>C | |
| 19 | g.38446720T>G | CA405680262 | RYR1 | c.752T>G (p.Val251Gly) n.835T>G | |
| 19 | g.38446721G>A | CA507241552 | RYR1 | c.753G>A (p.Val251=) n.836G>A | gnomAD v4 |
| 19 | g.38446721G>C | CA507241553 | RYR1 | c.753G>C (p.Val251=) n.836G>C | |
| 19 | g.38446721G>T | CA507241554 | RYR1 | c.753G>T (p.Val251=) n.836G>T | gnomAD v4 |
| 19 | g.38446722T>A | CA405680267 | RYR1 | c.754T>A (p.Cys252Ser) n.837T>A | |
| 19 | g.38446722T>C | CA405680263 | RYR1 | c.754T>C (p.Cys252Arg) n.837T>C | dbSNP |
| 19 | g.38446722T>G | CA405680264 | RYR1 | c.754T>G (p.Cys252Gly) n.837T>G | |
| 19 | g.38446722T= | CA2335027202 | RYR1 | c.754T= (p.Cys252=) n.837T= | |
| 19 | g.38446723G>A | CA405680268 | RYR1 | c.755G>A (p.Cys252Tyr) n.838G>A | dbSNP |
| 19 | g.38446723G>C | CA405680269 | RYR1 | c.755G>C (p.Cys252Ser) n.838G>C | |
| 19 | g.38446723G= | CA2335027203 | RYR1 | c.755G= (p.Cys252=) n.838G= | |
| 19 | g.38446723G>T | CA405680270 | RYR1 | c.755G>T (p.Cys252Phe) n.838G>T | |
| 19 | g.38446724C>A | CA405680273 | RYR1 | c.756C>A (p.Cys252Ter) n.839C>A | |
| 19 | g.38446724C= | CA2335027204 | RYR1 | c.756C= (p.Cys252=) n.839C= | |
| 19 | g.38446724C>G | CA405680274 | RYR1 | c.756C>G (p.Cys252Trp) n.839C>G | |
| 19 | g.38446724C>T | CA308114416 | RYR1 | c.756C>T (p.Cys252=) n.839C>T | dbSNP gnomAD v4 |
| 19 | g.38446725A= | CA2335027205 | RYR1 | c.757A= (p.Thr253=) n.840A= | |
| 19 | g.38446725A>C | CA405680276 | RYR1 | c.757A>C (p.Thr253Pro) n.840A>C | dbSNP |
| 19 | g.38446725A>G | CA405680279 | RYR1 | c.757A>G (p.Thr253Ala) n.840A>G | |
| 19 | g.38446725A>T | CA405680281 | RYR1 | c.757A>T (p.Thr253Ser) n.840A>T | |
| 19 | g.38446726C>A | CA405680285 | RYR1 | c.758C>A (p.Thr253Asn) n.841C>A | |
| 19 | g.38446726C= | CA2335027206 | RYR1 | c.758C= (p.Thr253=) n.841C= | |
| 19 | g.38446726C>G | CA405680286 | RYR1 | c.758C>G (p.Thr253Ser) n.841C>G | |
| 19 | g.38446726C>T | CA069788 | RYR1 | c.758C>T (p.Thr253Ile) n.841C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38446727T>A | CA507241557 | RYR1 | c.759T>A (p.Thr253=) n.842T>A | |
| 19 | g.38446727T>C | CA507241558 | RYR1 | c.759T>C (p.Thr253=) n.842T>C | dbSNP |
| 19 | g.38446727T>G | CA069798 | RYR1 | c.759T>G (p.Thr253=) n.842T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38446727T= | CA2335027207 | RYR1 | c.759T= (p.Thr253=) n.842T= | |
| 19 | g.38446728C>A | CA405680298 | RYR1 | c.760C>A (p.His254Asn) n.843C>A | |
| 19 | g.38446728C>G | CA405680293 | RYR1 | c.760C>G (p.His254Asp) n.843C>G | gnomAD v4 |
| 19 | g.38446728C>T | CA405680296 | RYR1 | c.760C>T (p.His254Tyr) n.843C>T | |
| 19 | g.38446729A>C | CA405680300 | RYR1 | c.761A>C (p.His254Pro) n.844A>C | |
| 19 | g.38446729A>G | CA405680304 | RYR1 | c.761A>G (p.His254Arg) n.844A>G | |
| 19 | g.38446729A>T | CA405680307 | RYR1 | c.761A>T (p.His254Leu) n.844A>T | |
| 19 | g.38446730T>A | CA405680310 | RYR1 | c.762T>A (p.His254Gln) n.845T>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38446730T>C | CA507241559 | RYR1 | c.762T>C (p.His254=) n.845T>C | ClinVar dbSNP |
| 19 | g.38446730T>G | CA405680313 | RYR1 | c.762T>G (p.His254Gln) n.845T>G | |
| 19 | g.38446730T= | CA2335027208 | RYR1 | c.762T= (p.His254=) n.845T= | |
| 19 | g.38446731G>A | CA405680316 | RYR1 | c.763G>A (p.Ala255Thr) n.846G>A | ClinVar |
| 19 | g.38446731G>C | CA405680318 | RYR1 | c.763G>C (p.Ala255Pro) n.846G>C | |
| 19 | g.38446731G>T | CA405680317 | RYR1 | c.763G>T (p.Ala255Ser) n.846G>T | |
| 19 | g.38446732C>A | CA405680319 | RYR1 | c.764C>A (p.Ala255Asp) n.847C>A | |
| 19 | g.38446732C>G | CA405680320 | RYR1 | c.764C>G (p.Ala255Gly) n.847C>G | |
| 19 | g.38446732C>T | CA405680321 | RYR1 | c.764C>T (p.Ala255Val) n.847C>T | gnomAD v4 |
| 19 | g.38446733C>A | CA507241560 | RYR1 | c.765C>A (p.Ala255=) n.848C>A | |
| 19 | g.38446733C= | CA2335027209 | RYR1 | c.765C= (p.Ala255=) n.848C= | |
| 19 | g.38446733C>G | CA069933 | RYR1 | c.765C>G (p.Ala255=) n.848C>G | dbSNP ExAC |
| 19 | g.38446733C>T | CA507241561 | RYR1 | c.765C>T (p.Ala255=) n.848C>T | gnomAD v4 |