| 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.38485686C>A | CA405653231 | RYR1 | c.5031C>A (p.Asn1677Lys) c.5028C>A (p.Asn1676Lys) n.5114C>A | |
| 19 | g.38485686C>G | CA405653232 | RYR1 | c.5031C>G (p.Asn1677Lys) c.5028C>G (p.Asn1676Lys) n.5114C>G | |
| 19 | g.38485686C>T | CA507238555 | RYR1 | c.5031C>T (p.Asn1677=) c.5028C>T (p.Asn1676=) n.5114C>T | gnomAD v4 |
| 19 | g.38485687A>C | CA405653233 | RYR1 | c.5032A>C (p.Asn1678His) c.5029A>C (p.Asn1677His) n.5115A>C | |
| 19 | g.38485687A>G | CA405653234 | RYR1 | c.5032A>G (p.Asn1678Asp) c.5029A>G (p.Asn1677Asp) n.5115A>G | |
| 19 | g.38485687A>T | CA405653236 | RYR1 | c.5032A>T (p.Asn1678Tyr) c.5029A>T (p.Asn1677Tyr) n.5115A>T | gnomAD v4 |
| 19 | g.38485688A= | CA2335046187 | RYR1 | c.5033A= (p.Asn1678=) c.5030A= (p.Asn1677=) n.5116A= | |
| 19 | g.38485688A>C | CA405653238 | RYR1 | c.5033A>C (p.Asn1678Thr) c.5030A>C (p.Asn1677Thr) n.5116A>C | |
| 19 | g.38485688A>G | CA066616 | RYR1 | c.5033A>G (p.Asn1678Ser) c.5030A>G (p.Asn1677Ser) n.5116A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485688A>T | CA405653241 | RYR1 | c.5033A>T (p.Asn1678Ile) c.5030A>T (p.Asn1677Ile) n.5116A>T | |
| 19 | g.38485689T>A | CA405653254 | RYR1 | c.5034T>A (p.Asn1678Lys) c.5031T>A (p.Asn1677Lys) n.5117T>A | |
| 19 | g.38485689T>C | CA507238560 | RYR1 | c.5034T>C (p.Asn1678=) c.5031T>C (p.Asn1677=) n.5117T>C | |
| 19 | g.38485689T>G | CA405653260 | RYR1 | c.5034T>G (p.Asn1678Lys) c.5031T>G (p.Asn1677Lys) n.5117T>G | |
| 19 | g.38485690C>A | CA405653265 | RYR1 | c.5035C>A (p.Arg1679Ser) c.5032C>A (p.Arg1678Ser) n.5118C>A | |
| 19 | g.38485690C= | CA2335046188 | RYR1 | c.5035C= (p.Arg1679=) c.5032C= (p.Arg1678=) n.5118C= | |
| 19 | g.38485690C>G | CA405653267 | RYR1 | c.5035C>G (p.Arg1679Gly) c.5032C>G (p.Arg1678Gly) n.5118C>G | |
| 19 | g.38485690C>T | CA405653262 | RYR1 | c.5035C>T (p.Arg1679Cys) c.5032C>T (p.Arg1678Cys) n.5118C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485691G>A | CA024479 | RYR1 | c.5036G>A (p.Arg1679His) c.5033G>A (p.Arg1678His) n.5119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485691G>C | CA405653279 | RYR1 | c.5036G>C (p.Arg1679Pro) c.5033G>C (p.Arg1678Pro) n.5119G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485691G= | CA2335046189 | RYR1 | c.5036G= (p.Arg1679=) c.5033G= (p.Arg1678=) n.5119G= | |
| 19 | g.38485691G>T | CA405653286 | RYR1 | c.5036G>T (p.Arg1679Leu) c.5033G>T (p.Arg1678Leu) n.5119G>T | gnomAD v4 |
| 19 | g.38485692C>A | CA507238563 | RYR1 | c.5037C>A (p.Arg1679=) c.5034C>A (p.Arg1678=) n.5120C>A | gnomAD v4 |
| 19 | g.38485692C= | CA2335046190 | RYR1 | c.5037C= (p.Arg1679=) c.5034C= (p.Arg1678=) n.5120C= | |
| 19 | g.38485692C>G | CA066622 | RYR1 | c.5037C>G (p.Arg1679=) c.5034C>G (p.Arg1678=) n.5120C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485692C>T | CA066628 | RYR1 | c.5037C>T (p.Arg1679=) c.5034C>T (p.Arg1678=) n.5120C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485693G>A | CA405653302 | RYR1 | c.5038G>A (p.Val1680Met) c.5035G>A (p.Val1679Met) n.5121G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485693G>C | CA405653301 | RYR1 | c.5038G>C (p.Val1680Leu) c.5035G>C (p.Val1679Leu) n.5121G>C | |
| 19 | g.38485693G= | CA2335046191 | RYR1 | c.5038G= (p.Val1680=) c.5035G= (p.Val1679=) n.5121G= | |
| 19 | g.38485693G>T | CA405653300 | RYR1 | c.5038G>T (p.Val1680Leu) c.5035G>T (p.Val1679Leu) n.5121G>T | |
| 19 | g.38485694T>A | CA405653306 | RYR1 | c.5039T>A (p.Val1680Glu) c.5036T>A (p.Val1679Glu) n.5122T>A | |
| 19 | g.38485694T>C | CA405653308 | RYR1 | c.5039T>C (p.Val1680Ala) c.5036T>C (p.Val1679Ala) n.5122T>C | |
| 19 | g.38485694T>G | CA405653311 | RYR1 | c.5039T>G (p.Val1680Gly) c.5036T>G (p.Val1679Gly) n.5122T>G | |
| 19 | g.38485695G>A | CA507238582 | RYR1 | c.5040G>A (p.Val1680=) c.5037G>A (p.Val1679=) n.5123G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485695G>C | CA507238580 | RYR1 | c.5040G>C (p.Val1680=) c.5037G>C (p.Val1679=) n.5123G>C | |
| 19 | g.38485695G= | CA2335046192 | RYR1 | c.5040G= (p.Val1680=) c.5037G= (p.Val1679=) n.5123G= | |
| 19 | g.38485695G>T | CA507238578 | RYR1 | c.5040G>T (p.Val1680=) c.5037G>T (p.Val1679=) n.5123G>T | |
| 19 | g.38485696G>A | CA405653315 | RYR1 | c.5041G>A (p.Ala1681Thr) c.5038G>A (p.Ala1680Thr) n.5124G>A | |
| 19 | g.38485696G>C | CA405653321 | RYR1 | c.5041G>C (p.Ala1681Pro) c.5038G>C (p.Ala1680Pro) n.5124G>C | |
| 19 | g.38485696G>T | CA405653322 | RYR1 | c.5041G>T (p.Ala1681Ser) c.5038G>T (p.Ala1680Ser) n.5124G>T | COSMIC |
| 19 | g.38485697C>A | CA308092960 | RYR1 | c.5042C>A (p.Ala1681Glu) c.5039C>A (p.Ala1680Glu) n.5125C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485697C= | CA2335046193 | RYR1 | c.5042C= (p.Ala1681=) c.5039C= (p.Ala1680=) n.5125C= | |
| 19 | g.38485697C>G | CA405653334 | RYR1 | c.5042C>G (p.Ala1681Gly) c.5039C>G (p.Ala1680Gly) n.5125C>G | |
| 19 | g.38485697C>T | CA405653329 | RYR1 | c.5042C>T (p.Ala1681Val) c.5039C>T (p.Ala1680Val) n.5125C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485698G>A | CA507238600 | RYR1 | c.5043G>A (p.Ala1681=) c.5040G>A (p.Ala1680=) n.5126G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485698G>C | CA507238597 | RYR1 | c.5043G>C (p.Ala1681=) c.5040G>C (p.Ala1680=) n.5126G>C | gnomAD v4 |
| 19 | g.38485698G= | CA2335046194 | RYR1 | c.5043G= (p.Ala1681=) c.5040G= (p.Ala1680=) n.5126G= | |
| 19 | g.38485698G>T | CA507238595 | RYR1 | c.5043G>T (p.Ala1681=) c.5040G>T (p.Ala1680=) n.5126G>T | gnomAD v4 |
| 19 | g.38485699C>A | CA405653340 | RYR1 | c.5044C>A (p.His1682Asn) c.5041C>A (p.His1681Asn) n.5127C>A | ClinVar dbSNP |
| 19 | g.38485699C= | CA2335046195 | RYR1 | c.5044C= (p.His1682=) c.5041C= (p.His1681=) n.5127C= | |
| 19 | g.38485699C>G | CA405653343 | RYR1 | c.5044C>G (p.His1682Asp) c.5041C>G (p.His1681Asp) n.5127C>G | |
| 19 | g.38485699C>T | CA066630 | RYR1 | c.5044C>T (p.His1682Tyr) c.5041C>T (p.His1681Tyr) n.5127C>T | dbSNP ExAC gnomAD v2 |
| 19 | g.38485700A>C | CA405653344 | RYR1 | c.5045A>C (p.His1682Pro) c.5042A>C (p.His1681Pro) n.5128A>C | |
| 19 | g.38485700A>G | CA405653345 | RYR1 | c.5045A>G (p.His1682Arg) c.5042A>G (p.His1681Arg) n.5128A>G | |
| 19 | g.38485700A>T | CA405653346 | RYR1 | c.5045A>T (p.His1682Leu) c.5042A>T (p.His1681Leu) n.5128A>T | gnomAD v4 |
| 19 | g.38485701C>A | CA405653350 | RYR1 | c.5046C>A (p.His1682Gln) c.5043C>A (p.His1681Gln) n.5129C>A | |
| 19 | g.38485701C= | CA2335046196 | RYR1 | c.5046C= (p.His1682=) c.5043C= (p.His1681=) n.5129C= | |
| 19 | g.38485701C>G | CA405653352 | RYR1 | c.5046C>G (p.His1682Gln) c.5043C>G (p.His1681Gln) n.5129C>G | |
| 19 | g.38485701C>T | CA066634 | RYR1 | c.5046C>T (p.His1682=) c.5043C>T (p.His1681=) n.5129C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485702G>A | CA405653357 | RYR1 | c.5047G>A (p.Ala1683Thr) c.5044G>A (p.Ala1682Thr) n.5130G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485702G>C | CA405653363 | RYR1 | c.5047G>C (p.Ala1683Pro) c.5044G>C (p.Ala1682Pro) n.5130G>C | |
| 19 | g.38485702G= | CA2335046197 | RYR1 | c.5047G= (p.Ala1683=) c.5044G= (p.Ala1682=) n.5130G= | |
| 19 | g.38485702G>T | CA405653367 | RYR1 | c.5047G>T (p.Ala1683Ser) c.5044G>T (p.Ala1682Ser) n.5130G>T | gnomAD v4 |
| 19 | g.38485703C>A | CA405653371 | RYR1 | c.5048C>A (p.Ala1683Asp) c.5045C>A (p.Ala1682Asp) n.5131C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485703C= | CA2335046198 | RYR1 | c.5048C= (p.Ala1683=) c.5045C= (p.Ala1682=) n.5131C= | |
| 19 | g.38485703C>G | CA405653380 | RYR1 | c.5048C>G (p.Ala1683Gly) c.5045C>G (p.Ala1682Gly) n.5131C>G | |
| 19 | g.38485703C>T | CA405653378 | RYR1 | c.5048C>T (p.Ala1683Val) c.5045C>T (p.Ala1682Val) n.5131C>T | |
| 19 | g.38485704T>A | CA507238605 | RYR1 | c.5049T>A (p.Ala1683=) c.5046T>A (p.Ala1682=) n.5132T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485704T>C | CA507238606 | RYR1 | c.5049T>C (p.Ala1683=) c.5046T>C (p.Ala1682=) n.5132T>C | |
| 19 | g.38485704T>G | CA507238607 | RYR1 | c.5049T>G (p.Ala1683=) c.5046T>G (p.Ala1682=) n.5132T>G | |
| 19 | g.38485704T= | CA2335046199 | RYR1 | c.5049T= (p.Ala1683=) c.5046T= (p.Ala1682=) n.5132T= | |
| 19 | g.38485705C>A | CA405653382 | RYR1 | c.5050C>A (p.Leu1684Met) c.5047C>A (p.Leu1683Met) n.5133C>A | |
| 19 | g.38485705C>G | CA405653386 | RYR1 | c.5050C>G (p.Leu1684Val) c.5047C>G (p.Leu1683Val) n.5133C>G | |
| 19 | g.38485705C>T | CA507238608 | RYR1 | c.5050C>T (p.Leu1684=) c.5047C>T (p.Leu1683=) n.5133C>T | |
| 19 | g.38485706T>A | CA405653391 | RYR1 | c.5051T>A (p.Leu1684Gln) c.5048T>A (p.Leu1683Gln) n.5134T>A | |
| 19 | g.38485706T>C | CA405653395 | RYR1 | c.5051T>C (p.Leu1684Pro) c.5048T>C (p.Leu1683Pro) n.5134T>C | |
| 19 | g.38485706T>G | CA405653398 | RYR1 | c.5051T>G (p.Leu1684Arg) c.5048T>G (p.Leu1683Arg) n.5134T>G | |
| 19 | g.38485707G>A | CA507238610 | RYR1 | c.5052G>A (p.Leu1684=) c.5049G>A (p.Leu1683=) n.5135G>A | |
| 19 | g.38485707G>C | CA507238611 | RYR1 | c.5052G>C (p.Leu1684=) c.5049G>C (p.Leu1683=) n.5135G>C | gnomAD v4 |
| 19 | g.38485707G>T | CA507238614 | RYR1 | c.5052G>T (p.Leu1684=) c.5049G>T (p.Leu1683=) n.5135G>T | |
| 19 | g.38485708T>A | CA405653411 | RYR1 | c.5053T>A (p.Cys1685Ser) c.5050T>A (p.Cys1684Ser) n.5136T>A | |
| 19 | g.38485708T>C | CA308092971 | RYR1 | c.5053T>C (p.Cys1685Arg) c.5050T>C (p.Cys1684Arg) n.5136T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485708T>G | CA066636 | RYR1 | c.5053T>G (p.Cys1685Gly) c.5050T>G (p.Cys1684Gly) n.5136T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485708T= | CA2335046200 | RYR1 | c.5053T= (p.Cys1685=) c.5050T= (p.Cys1684=) n.5136T= | |
| 19 | g.38485709G>A | CA308092986 | RYR1 | c.5054G>A (p.Cys1685Tyr) c.5051G>A (p.Cys1684Tyr) n.5137G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485709G>C | CA405653414 | RYR1 | c.5054G>C (p.Cys1685Ser) c.5051G>C (p.Cys1684Ser) n.5137G>C | |
| 19 | g.38485709G= | CA2335046201 | RYR1 | c.5054G= (p.Cys1685=) c.5051G= (p.Cys1684=) n.5137G= | |
| 19 | g.38485709G>T | CA405653416 | RYR1 | c.5054G>T (p.Cys1685Phe) c.5051G>T (p.Cys1684Phe) n.5137G>T | |
| 19 | g.38485710C>A | CA405653418 | RYR1 | c.5055C>A (p.Cys1685Ter) c.5052C>A (p.Cys1684Ter) n.5138C>A | |
| 19 | g.38485710C= | CA2335046202 | RYR1 | c.5055C= (p.Cys1685=) c.5052C= (p.Cys1684=) n.5138C= | |
| 19 | g.38485710C>G | CA405653420 | RYR1 | c.5055C>G (p.Cys1685Trp) c.5052C>G (p.Cys1684Trp) n.5138C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485710C>T | CA066639 | RYR1 | c.5055C>T (p.Cys1685=) c.5052C>T (p.Cys1684=) n.5138C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485711A>C | CA405653424 | RYR1 | c.5056A>C (p.Ser1686Arg) c.5053A>C (p.Ser1685Arg) n.5139A>C | |
| 19 | g.38485711A>G | CA405653431 | RYR1 | c.5056A>G (p.Ser1686Gly) c.5053A>G (p.Ser1685Gly) n.5139A>G | |
| 19 | g.38485711A>T | CA405653428 | RYR1 | c.5056A>T (p.Ser1686Cys) c.5053A>T (p.Ser1685Cys) n.5139A>T | |
| 19 | g.38485712G>A | CA405653445 | RYR1 | c.5057G>A (p.Ser1686Asn) c.5054G>A (p.Ser1685Asn) n.5140G>A | gnomAD v4 |
| 19 | g.38485712G>C | CA405653450 | RYR1 | c.5057G>C (p.Ser1686Thr) c.5054G>C (p.Ser1685Thr) n.5140G>C | |
| 19 | g.38485712G>T | CA405653453 | RYR1 | c.5057G>T (p.Ser1686Ile) c.5054G>T (p.Ser1685Ile) n.5140G>T | gnomAD v4 |
| 19 | g.38485713C>A | CA405653456 | RYR1 | c.5058C>A (p.Ser1686Arg) c.5055C>A (p.Ser1685Arg) n.5141C>A | |
| 19 | g.38485713C= | CA2335046203 | RYR1 | c.5058C= (p.Ser1686=) c.5055C= (p.Ser1685=) n.5141C= | |
| 19 | g.38485713C>G | CA405653459 | RYR1 | c.5058C>G (p.Ser1686Arg) c.5055C>G (p.Ser1685Arg) n.5141C>G | |
| 19 | g.38485713C>T | CA081700 | RYR1 | c.5058C>T (p.Ser1686=) c.5055C>T (p.Ser1685=) n.5141C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485714C>A | CA405653463 | RYR1 | c.5059C>A (p.His1687Asn) c.5056C>A (p.His1686Asn) n.5142C>A | |
| 19 | g.38485714C= | CA2335046204 | RYR1 | c.5059C= (p.His1687=) c.5056C= (p.His1686=) n.5142C= | |
| 19 | g.38485714C>G | CA405653466 | RYR1 | c.5059C>G (p.His1687Asp) c.5056C>G (p.His1686Asp) n.5142C>G | |
| 19 | g.38485714C>T | CA308093005 | RYR1 | c.5059C>T (p.His1687Tyr) c.5056C>T (p.His1686Tyr) n.5142C>T | dbSNP |
| 19 | g.38485715A= | CA2335046205 | RYR1 | c.5060A= (p.His1687=) c.5057A= (p.His1686=) n.5143A= | |
| 19 | g.38485715A>C | CA405653478 | RYR1 | c.5060A>C (p.His1687Pro) c.5057A>C (p.His1686Pro) n.5143A>C | |
| 19 | g.38485715A>G | CA405653480 | RYR1 | c.5060A>G (p.His1687Arg) c.5057A>G (p.His1686Arg) n.5143A>G | |
| 19 | g.38485715A>T | CA308093012 | RYR1 | c.5060A>T (p.His1687Leu) c.5057A>T (p.His1686Leu) n.5143A>T | dbSNP |
| 19 | g.38485716C>A | CA405653490 | RYR1 | c.5061C>A (p.His1687Gln) c.5058C>A (p.His1686Gln) n.5144C>A | |
| 19 | g.38485716C= | CA2335046206 | RYR1 | c.5061C= (p.His1687=) c.5058C= (p.His1686=) n.5144C= | |
| 19 | g.38485716C>G | CA405653487 | RYR1 | c.5061C>G (p.His1687Gln) c.5058C>G (p.His1686Gln) n.5144C>G | |
| 19 | g.38485716C>T | CA507238626 | RYR1 | c.5061C>T (p.His1687=) c.5058C>T (p.His1686=) n.5144C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485717G>A | CA405653492 | RYR1 | c.5062G>A (p.Val1688Ile) c.5059G>A (p.Val1687Ile) n.5145G>A | ClinVar |
| 19 | g.38485717G>C | CA405653494 | RYR1 | c.5062G>C (p.Val1688Leu) c.5059G>C (p.Val1687Leu) n.5145G>C | |
| 19 | g.38485717G>T | CA405653493 | RYR1 | c.5062G>T (p.Val1688Leu) c.5059G>T (p.Val1687Leu) n.5145G>T | gnomAD v4 |
| 19 | g.38485718T>A | CA405653495 | RYR1 | c.5063T>A (p.Val1688Glu) c.5060T>A (p.Val1687Glu) n.5146T>A | |
| 19 | g.38485718T>C | CA405653502 | RYR1 | c.5063T>C (p.Val1688Ala) c.5060T>C (p.Val1687Ala) n.5146T>C | |
| 19 | g.38485718T>G | CA405653497 | RYR1 | c.5063T>G (p.Val1688Gly) c.5060T>G (p.Val1687Gly) n.5146T>G | gnomAD v4 |
| 19 | g.38485719A= | CA2335046207 | RYR1 | c.5064A= (p.Val1688=) c.5061A= (p.Val1687=) n.5147A= | |
| 19 | g.38485719A>C | CA507238630 | RYR1 | c.5064A>C (p.Val1688=) c.5061A>C (p.Val1687=) n.5147A>C | |
| 19 | g.38485719A>G | CA507238631 | RYR1 | c.5064A>G (p.Val1688=) c.5061A>G (p.Val1687=) n.5147A>G | ClinVar |
| 19 | g.38485719A>T | CA066642 | RYR1 | c.5064A>T (p.Val1688=) c.5061A>T (p.Val1687=) n.5147A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485721_38485726dup | CA2584898015 | RYR1 | c.5066_5071dup (p.Gln1690_Ala1691insAspGln) c.5063_5068dup (p.Gln1689_Ala1690insAspGln) n.5149_5154dup | gnomAD v4 |
| 19 | g.38485720G>A | CA405653528 | RYR1 | c.5065G>A (p.Asp1689Asn) c.5062G>A (p.Asp1688Asn) n.5148G>A | dbSNP |
| 19 | g.38485720G>C | CA405653530 | RYR1 | c.5065G>C (p.Asp1689His) c.5062G>C (p.Asp1688His) n.5148G>C | gnomAD v4 |
| 19 | g.38485720G= | CA2335046208 | RYR1 | c.5065G= (p.Asp1689=) c.5062G= (p.Asp1688=) n.5148G= | |
| 19 | g.38485720G>T | CA405653534 | RYR1 | c.5065G>T (p.Asp1689Tyr) c.5062G>T (p.Asp1688Tyr) n.5148G>T | gnomAD v4 |
| 19 | g.38485721A>C | CA405653538 | RYR1 | c.5066A>C (p.Asp1689Ala) c.5063A>C (p.Asp1688Ala) n.5149A>C | |
| 19 | g.38485721A>G | CA405653546 | RYR1 | c.5066A>G (p.Asp1689Gly) c.5063A>G (p.Asp1688Gly) n.5149A>G | COSMIC |
| 19 | g.38485721A>T | CA405653550 | RYR1 | c.5066A>T (p.Asp1689Val) c.5063A>T (p.Asp1688Val) n.5149A>T | |
| 19 | g.38485722C>A | CA405653555 | RYR1 | c.5067C>A (p.Asp1689Glu) c.5064C>A (p.Asp1688Glu) n.5150C>A | |
| 19 | g.38485722C= | CA2335046209 | RYR1 | c.5067C= (p.Asp1689=) c.5064C= (p.Asp1688=) n.5150C= | |
| 19 | g.38485722C>G | CA066646 | RYR1 | c.5067C>G (p.Asp1689Glu) c.5064C>G (p.Asp1688Glu) n.5150C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485722C>T | CA507238634 | RYR1 | c.5067C>T (p.Asp1689=) c.5064C>T (p.Asp1688=) n.5150C>T | |
| 19 | g.38485723del | CA2584898016 | RYR1 | c.5068del (p.Gln1690LysfsTer?) c.5065del (p.Gln1689LysfsTer?) n.5151del | gnomAD v4 |
| 19 | g.38485723C>A | CA405653568 | RYR1 | c.5068C>A (p.Gln1690Lys) c.5065C>A (p.Gln1689Lys) n.5151C>A | |
| 19 | g.38485723C>G | CA405653563 | RYR1 | c.5068C>G (p.Gln1690Glu) c.5065C>G (p.Gln1689Glu) n.5151C>G | |
| 19 | g.38485723C>T | CA405653561 | RYR1 | c.5068C>T (p.Gln1690Ter) c.5065C>T (p.Gln1689Ter) n.5151C>T | |
| 19 | g.38485724A>C | CA405653571 | RYR1 | c.5069A>C (p.Gln1690Pro) c.5066A>C (p.Gln1689Pro) n.5152A>C | |
| 19 | g.38485724A>G | CA405653578 | RYR1 | c.5069A>G (p.Gln1690Arg) c.5066A>G (p.Gln1689Arg) n.5152A>G | |
| 19 | g.38485724A>T | CA405653579 | RYR1 | c.5069A>T (p.Gln1690Leu) c.5066A>T (p.Gln1689Leu) n.5152A>T | |
| 19 | g.38485725A>C | CA405653582 | RYR1 | c.5070A>C (p.Gln1690His) c.5067A>C (p.Gln1689His) n.5153A>C | |
| 19 | g.38485725A>G | CA507238638 | RYR1 | c.5070A>G (p.Gln1690=) c.5067A>G (p.Gln1689=) n.5153A>G | |
| 19 | g.38485725A>T | CA405653586 | RYR1 | c.5070A>T (p.Gln1690His) c.5067A>T (p.Gln1689His) n.5153A>T | |
| 19 | g.38485726G>A | CA405653588 | RYR1 | c.5071G>A (p.Ala1691Thr) c.5068G>A (p.Ala1690Thr) n.5154G>A | |
| 19 | g.38485726G>C | CA405653590 | RYR1 | c.5071G>C (p.Ala1691Pro) c.5068G>C (p.Ala1690Pro) n.5154G>C | |
| 19 | g.38485726G= | CA2335046210 | RYR1 | c.5071G= (p.Ala1691=) c.5068G= (p.Ala1690=) n.5154G= | |
| 19 | g.38485726G>T | CA405653596 | RYR1 | c.5071G>T (p.Ala1691Ser) c.5068G>T (p.Ala1690Ser) n.5154G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485727C>A | CA405653600 | RYR1 | c.5072C>A (p.Ala1691Asp) c.5069C>A (p.Ala1690Asp) n.5155C>A | |
| 19 | g.38485727C= | CA2335046213 | RYR1 | c.5072C= (p.Ala1691=) c.5069C= (p.Ala1690=) n.5155C= | |
| 19 | g.38485727C>G | CA405653602 | RYR1 | c.5072C>G (p.Ala1691Gly) c.5069C>G (p.Ala1690Gly) n.5155C>G | |
| 19 | g.38485727C>T | CA066650 | RYR1 | c.5072C>T (p.Ala1691Val) c.5069C>T (p.Ala1690Val) n.5155C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485728T>A | CA507238641 | RYR1 | c.5073T>A (p.Ala1691=) c.5070T>A (p.Ala1690=) n.5156T>A | |
| 19 | g.38485728T>C | CA507238645 | RYR1 | c.5073T>C (p.Ala1691=) c.5070T>C (p.Ala1690=) n.5156T>C | |
| 19 | g.38485728T>G | CA507238643 | RYR1 | c.5073T>G (p.Ala1691=) c.5070T>G (p.Ala1690=) n.5156T>G | |
| 19 | g.38485729C>A | CA405653608 | RYR1 | c.5074C>A (p.Gln1692Lys) c.5071C>A (p.Gln1691Lys) n.5157C>A | |
| 19 | g.38485729C>G | CA405653619 | RYR1 | c.5074C>G (p.Gln1692Glu) c.5071C>G (p.Gln1691Glu) n.5157C>G | COSMIC |
| 19 | g.38485729C>T | CA405653605 | RYR1 | c.5074C>T (p.Gln1692Ter) c.5071C>T (p.Gln1691Ter) n.5157C>T | gnomAD v4 |
| 19 | g.38485730A>C | CA405653623 | RYR1 | c.5075A>C (p.Gln1692Pro) c.5072A>C (p.Gln1691Pro) n.5158A>C | |
| 19 | g.38485730A>G | CA405653626 | RYR1 | c.5075A>G (p.Gln1692Arg) c.5072A>G (p.Gln1691Arg) n.5158A>G | |
| 19 | g.38485730A>T | CA405653628 | RYR1 | c.5075A>T (p.Gln1692Leu) c.5072A>T (p.Gln1691Leu) n.5158A>T | |
| 19 | g.38485731G>A | CA507238648 | RYR1 | c.5076G>A (p.Gln1692=) c.5073G>A (p.Gln1691=) n.5159G>A | |
| 19 | g.38485731G>C | CA405653642 | RYR1 | c.5076G>C (p.Gln1692His) c.5073G>C (p.Gln1691His) n.5159G>C | |
| 19 | g.38485731G>T | CA405653645 | RYR1 | c.5076G>T (p.Gln1692His) c.5073G>T (p.Gln1691His) n.5159G>T | |
| 19 | g.38485731_38485732delinsGC | CA2335046215 | RYR1 | c.5076_5077delinsGC (p.Gln1692=) c.5073_5074delinsGC (p.Gln1691=) n.5159_5160delinsGC | |
| 19 | g.38485731_38485733delinsGCT | CA2335046216 | RYR1 | c.5076_5078delinsGCT (p.Gln1692=) c.5073_5075delinsGCT (p.Gln1691=) n.5159_5161delinsGCT | |
| 19 | g.38485732del | CA066653 | RYR1 | c.5077del (p.Leu1693CysfsTer?) c.5074del (p.Leu1692CysfsTer?) n.5160del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485732C>A | CA405653654 | RYR1 | c.5077C>A (p.Leu1693Met) c.5074C>A (p.Leu1692Met) n.5160C>A | |
| 19 | g.38485732C>G | CA405653648 | RYR1 | c.5077C>G (p.Leu1693Val) c.5074C>G (p.Leu1692Val) n.5160C>G | |
| 19 | g.38485732C>T | CA507238649 | RYR1 | c.5077C>T (p.Leu1693=) c.5074C>T (p.Leu1692=) n.5160C>T | |
| 19 | g.38485732_38485733delinsG | CA915952989 | RYR1 | c.5077_5078delinsG (p.Leu1693GlyfsTer?) c.5074_5075delinsG (p.Leu1692GlyfsTer?) n.5160_5161delinsG | ClinVar dbSNP |
| 19 | g.38485733T>A | CA405653655 | RYR1 | c.5078T>A (p.Leu1693Gln) c.5075T>A (p.Leu1692Gln) n.5161T>A | gnomAD v4 |
| 19 | g.38485733T>C | CA405653659 | RYR1 | c.5078T>C (p.Leu1693Pro) c.5075T>C (p.Leu1692Pro) n.5161T>C | |
| 19 | g.38485733T>G | CA066657 | RYR1 | c.5078T>G (p.Leu1693Arg) c.5075T>G (p.Leu1692Arg) n.5161T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485733T= | CA2335046219 | RYR1 | c.5078T= (p.Leu1693=) c.5075T= (p.Leu1692=) n.5161T= | |
| 19 | g.38485734G>A | CA507238650 | RYR1 | c.5079G>A (p.Leu1693=) c.5076G>A (p.Leu1692=) n.5162G>A | |
| 19 | g.38485734G>C | CA507238652 | RYR1 | c.5079G>C (p.Leu1693=) c.5076G>C (p.Leu1692=) n.5162G>C | |
| 19 | g.38485734G= | CA2335046220 | RYR1 | c.5079G= (p.Leu1693=) c.5076G= (p.Leu1692=) n.5162G= | |
| 19 | g.38485734G>T | CA507238651 | RYR1 | c.5079G>T (p.Leu1693=) c.5076G>T (p.Leu1692=) n.5162G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485735del | CA081704 | RYR1 | c.5080del (p.Leu1694CysfsTer?) c.5077del (p.Leu1693CysfsTer?) n.5163del | |
| 19 | g.38485735C>A | CA405653673 | RYR1 | c.5080C>A (p.Leu1694Met) c.5077C>A (p.Leu1693Met) n.5163C>A | |
| 19 | g.38485735C>G | CA405653677 | RYR1 | c.5080C>G (p.Leu1694Val) c.5077C>G (p.Leu1693Val) n.5163C>G | |
| 19 | g.38485735C>T | CA507238653 | RYR1 | c.5080C>T (p.Leu1694=) c.5077C>T (p.Leu1693=) n.5163C>T | |
| 19 | g.38485736T>A | CA405653681 | RYR1 | c.5081T>A (p.Leu1694Gln) c.5078T>A (p.Leu1693Gln) n.5164T>A | |
| 19 | g.38485736T>C | CA405653685 | RYR1 | c.5081T>C (p.Leu1694Pro) c.5078T>C (p.Leu1693Pro) n.5164T>C | gnomAD v4 |
| 19 | g.38485736T>G | CA081705 | RYR1 | c.5081T>G (p.Leu1694Arg) c.5078T>G (p.Leu1693Arg) n.5164T>G | |
| 19 | g.38485737G>A | CA507238656 | RYR1 | c.5082G>A (p.Leu1694=) c.5079G>A (p.Leu1693=) n.5165G>A | |
| 19 | g.38485737G>C | CA507238657 | RYR1 | c.5082G>C (p.Leu1694=) c.5079G>C (p.Leu1693=) n.5165G>C | |
| 19 | g.38485737G>T | CA507238659 | RYR1 | c.5082G>T (p.Leu1694=) c.5079G>T (p.Leu1693=) n.5165G>T | gnomAD v4 |
| 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 | ClinVar |
| 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 | ClinVar 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 | ClinVar |
| 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 |