Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 | ClinVar 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 | ClinVar 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 | ClinVar 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 |
19 | g.38485946G>A | CA405654490 | RYR1 | c.5291G>A (p.Gly1764Glu) c.5288G>A (p.Gly1763Glu) n.5374G>A | |
19 | g.38485946G>C | CA405654493 | RYR1 | c.5291G>C (p.Gly1764Ala) c.5288G>C (p.Gly1763Ala) n.5374G>C | |
19 | g.38485946G>T | CA405654495 | RYR1 | c.5291G>T (p.Gly1764Val) c.5288G>T (p.Gly1763Val) n.5374G>T | gnomAD v4 |
19 | g.38485947A>C | CA507353360 | RYR1 | c.5292A>C (p.Gly1764=) c.5289A>C (p.Gly1763=) n.5375A>C | |
19 | g.38485947A>G | CA507353361 | RYR1 | c.5292A>G (p.Gly1764=) c.5289A>G (p.Gly1763=) n.5375A>G | |
19 | g.38485947A>T | CA507353362 | RYR1 | c.5292A>T (p.Gly1764=) c.5289A>T (p.Gly1763=) n.5375A>T | |
19 | g.38485948G>A | CA405654498 | RYR1 | c.5293G>A (p.Val1765Ile) c.5290G>A (p.Val1764Ile) n.5376G>A | gnomAD v4 COSMIC |
19 | g.38485948G>C | CA405654501 | RYR1 | c.5293G>C (p.Val1765Leu) c.5290G>C (p.Val1764Leu) n.5376G>C | |
19 | g.38485948G>T | CA405654503 | RYR1 | c.5293G>T (p.Val1765Phe) c.5290G>T (p.Val1764Phe) n.5376G>T | |
19 | g.38485949T>A | CA405654506 | RYR1 | c.5294T>A (p.Val1765Asp) c.5291T>A (p.Val1764Asp) n.5377T>A | |
19 | g.38485949T>C | CA405654509 | RYR1 | c.5294T>C (p.Val1765Ala) c.5291T>C (p.Val1764Ala) n.5377T>C | gnomAD v4 |
19 | g.38485949T>G | CA405654512 | RYR1 | c.5294T>G (p.Val1765Gly) c.5291T>G (p.Val1764Gly) n.5377T>G | |
19 | g.38485950T>A | CA507353364 | RYR1 | c.5295T>A (p.Val1765=) c.5292T>A (p.Val1764=) n.5378T>A | dbSNP |
19 | g.38485950T>C | CA507353365 | RYR1 | c.5295T>C (p.Val1765=) c.5292T>C (p.Val1764=) n.5378T>C | gnomAD v4 |
19 | g.38485950T>G | CA507353363 | RYR1 | c.5295T>G (p.Val1765=) c.5292T>G (p.Val1764=) n.5378T>G | |
19 | g.38485951G>A | CA405654516 | RYR1 | c.5296G>A (p.Gly1766Arg) c.5293G>A (p.Gly1765Arg) n.5379G>A | |
19 | g.38485951G>C | CA405654521 | RYR1 | c.5296G>C (p.Gly1766Arg) c.5293G>C (p.Gly1765Arg) n.5379G>C | |
19 | g.38485951G>T | CA405654519 | RYR1 | c.5296G>T (p.Gly1766Ter) c.5293G>T (p.Gly1765Ter) n.5379G>T | |
19 | g.38485952G>A | CA405654526 | RYR1 | c.5297G>A (p.Gly1766Glu) c.5294G>A (p.Gly1765Glu) n.5380G>A | gnomAD v4 |
19 | g.38485952G>C | CA405654528 | RYR1 | c.5297G>C (p.Gly1766Ala) c.5294G>C (p.Gly1765Ala) n.5380G>C | ClinVar gnomAD v4 COSMIC |
19 | g.38485952G>T | CA405654531 | RYR1 | c.5297G>T (p.Gly1766Val) c.5294G>T (p.Gly1765Val) n.5380G>T | |
19 | g.38485953A>C | CA507353366 | RYR1 | c.5298A>C (p.Gly1766=) c.5295A>C (p.Gly1765=) n.5381A>C | |
19 | g.38485953A>G | CA507353367 | RYR1 | c.5298A>G (p.Gly1766=) c.5295A>G (p.Gly1765=) n.5381A>G | |
19 | g.38485953A>T | CA507353368 | RYR1 | c.5298A>T (p.Gly1766=) c.5295A>T (p.Gly1765=) n.5381A>T | |
19 | g.38485954G>A | CA405654535 | RYR1 | c.5299G>A (p.Val1767Ile) c.5296G>A (p.Val1766Ile) n.5382G>A | |
19 | g.38485954G>C | CA405654539 | RYR1 | c.5299G>C (p.Val1767Leu) c.5296G>C (p.Val1766Leu) n.5382G>C | |
19 | g.38485954G>T | CA405654540 | RYR1 | c.5299G>T (p.Val1767Phe) c.5296G>T (p.Val1766Phe) n.5382G>T | gnomAD v4 |
19 | g.38485955T>A | CA405654543 | RYR1 | c.5300T>A (p.Val1767Asp) c.5297T>A (p.Val1766Asp) n.5383T>A | |
19 | g.38485955T>C | CA405654545 | RYR1 | c.5300T>C (p.Val1767Ala) c.5297T>C (p.Val1766Ala) n.5383T>C | |
19 | g.38485955T>G | CA405654547 | RYR1 | c.5300T>G (p.Val1767Gly) c.5297T>G (p.Val1766Gly) n.5383T>G | |
19 | g.38485956C>A | CA507353369 | RYR1 | c.5301C>A (p.Val1767=) c.5298C>A (p.Val1766=) n.5384C>A | gnomAD v4 |
19 | g.38485956C= | CA2335046333 | RYR1 | c.5301C= (p.Val1767=) c.5298C= (p.Val1766=) n.5384C= | |
19 | g.38485956C>G | CA507353370 | RYR1 | c.5301C>G (p.Val1767=) c.5298C>G (p.Val1766=) n.5384C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485956C>T | CA507353371 | RYR1 | c.5301C>T (p.Val1767=) c.5298C>T (p.Val1766=) n.5384C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485957A>C | CA405654550 | RYR1 | c.5302A>C (p.Thr1768Pro) c.5299A>C (p.Thr1767Pro) n.5385A>C | |
19 | g.38485957A>G | CA405654553 | RYR1 | c.5302A>G (p.Thr1768Ala) c.5299A>G (p.Thr1767Ala) n.5385A>G | |
19 | g.38485957A>T | CA405654556 | RYR1 | c.5302A>T (p.Thr1768Ser) c.5299A>T (p.Thr1767Ser) n.5385A>T | |
19 | g.38485958C>A | CA405654565 | RYR1 | c.5303C>A (p.Thr1768Asn) c.5300C>A (p.Thr1767Asn) n.5386C>A | |
19 | g.38485958C= | CA2335046334 | RYR1 | c.5303C= (p.Thr1768=) c.5300C= (p.Thr1767=) n.5386C= | |
19 | g.38485958C>G | CA405654560 | RYR1 | c.5303C>G (p.Thr1768Ser) c.5300C>G (p.Thr1767Ser) n.5386C>G | |
19 | g.38485958C>T | CA405654563 | RYR1 | c.5303C>T (p.Thr1768Ile) c.5300C>T (p.Thr1767Ile) n.5386C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485959C>A | CA507353372 | RYR1 | c.5304C>A (p.Thr1768=) c.5301C>A (p.Thr1767=) n.5387C>A | |
19 | g.38485959C>G | CA507353373 | RYR1 | c.5304C>G (p.Thr1768=) c.5301C>G (p.Thr1767=) n.5387C>G | |
19 | g.38485959C>T | CA507353374 | RYR1 | c.5304C>T (p.Thr1768=) c.5301C>T (p.Thr1767=) n.5387C>T | gnomAD v4 |
19 | g.38485960A>C | CA405654567 | RYR1 | c.5305A>C (p.Thr1769Pro) c.5302A>C (p.Thr1768Pro) n.5388A>C | gnomAD v4 |
19 | g.38485960A>G | CA405654570 | RYR1 | c.5305A>G (p.Thr1769Ala) c.5302A>G (p.Thr1768Ala) n.5388A>G | |
19 | g.38485960A>T | CA405654573 | RYR1 | c.5305A>T (p.Thr1769Ser) c.5302A>T (p.Thr1768Ser) n.5388A>T | |
19 | g.38485961C>A | CA405654575 | RYR1 | c.5306C>A (p.Thr1769Asn) c.5303C>A (p.Thr1768Asn) n.5389C>A | |
19 | g.38485961C= | CA2335046335 | RYR1 | c.5306C= (p.Thr1769=) c.5303C= (p.Thr1768=) n.5389C= | |
19 | g.38485961C>G | CA405654576 | RYR1 | c.5306C>G (p.Thr1769Ser) c.5303C>G (p.Thr1768Ser) n.5389C>G | |
19 | g.38485961C>T | CA405654581 | RYR1 | c.5306C>T (p.Thr1769Ile) c.5303C>T (p.Thr1768Ile) n.5389C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485962T>A | CA507353375 | RYR1 | c.5307T>A (p.Thr1769=) c.5304T>A (p.Thr1768=) n.5390T>A | |
19 | g.38485962T>C | CA507353376 | RYR1 | c.5307T>C (p.Thr1769=) c.5304T>C (p.Thr1768=) n.5390T>C | ClinVar |
19 | g.38485962T>G | CA507353377 | RYR1 | c.5307T>G (p.Thr1769=) c.5304T>G (p.Thr1768=) n.5390T>G | |
19 | g.38485963T>A | CA405654585 | RYR1 | c.5308T>A (p.Ser1770Thr) c.5305T>A (p.Ser1769Thr) n.5391T>A | |
19 | g.38485963T>C | CA405654588 | RYR1 | c.5308T>C (p.Ser1770Pro) c.5305T>C (p.Ser1769Pro) n.5391T>C | |
19 | g.38485963T>G | CA066870 | RYR1 | c.5308T>G (p.Ser1770Ala) c.5305T>G (p.Ser1769Ala) n.5391T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485963T= | CA2335046336 | RYR1 | c.5308T= (p.Ser1770=) c.5305T= (p.Ser1769=) n.5391T= | |
19 | g.38485964C>A | CA405654594 | RYR1 | c.5309C>A (p.Ser1770Ter) c.5306C>A (p.Ser1769Ter) n.5392C>A | ClinVar dbSNP gnomAD v2 |
19 | g.38485964C= | CA2335046337 | RYR1 | c.5309C= (p.Ser1770=) c.5306C= (p.Ser1769=) n.5392C= | |
19 | g.38485964C>G | CA405654605 | RYR1 | c.5309C>G (p.Ser1770Trp) c.5306C>G (p.Ser1769Trp) n.5392C>G | |
19 | g.38485964C>T | CA024504 | RYR1 | c.5309C>T (p.Ser1770Leu) c.5306C>T (p.Ser1769Leu) n.5392C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485965G>A | CA507353378 | RYR1 | c.5310G>A (p.Ser1770=) c.5307G>A (p.Ser1769=) n.5393G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38485965G>C | CA507353379 | RYR1 | c.5310G>C (p.Ser1770=) c.5307G>C (p.Ser1769=) n.5393G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485965G= | CA2335046338 | RYR1 | c.5310G= (p.Ser1770=) c.5307G= (p.Ser1769=) n.5393G= | |
19 | g.38485965G>T | CA507353380 | RYR1 | c.5310G>T (p.Ser1770=) c.5307G>T (p.Ser1769=) n.5393G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485966C>A | CA405654610 | RYR1 | c.5311C>A (p.Leu1771Met) c.5308C>A (p.Leu1770Met) n.5394C>A | ClinVar dbSNP |
19 | g.38485966C>G | CA405654613 | RYR1 | c.5311C>G (p.Leu1771Val) c.5308C>G (p.Leu1770Val) n.5394C>G | |
19 | g.38485966C>T | CA507353381 | RYR1 | c.5311C>T (p.Leu1771=) c.5308C>T (p.Leu1770=) n.5394C>T | |
19 | g.38485967T>A | CA405654615 | RYR1 | c.5312T>A (p.Leu1771Gln) c.5309T>A (p.Leu1770Gln) n.5395T>A | |
19 | g.38485967T>C | CA405654620 | RYR1 | c.5312T>C (p.Leu1771Pro) c.5309T>C (p.Leu1770Pro) n.5395T>C | |
19 | g.38485967T>G | CA405654617 | RYR1 | c.5312T>G (p.Leu1771Arg) c.5309T>G (p.Leu1770Arg) n.5395T>G | |
19 | g.38485968G>A | CA507353382 | RYR1 | c.5313G>A (p.Leu1771=) c.5310G>A (p.Leu1770=) n.5396G>A | COSMIC |
19 | g.38485968G>C | CA507353383 | RYR1 | c.5313G>C (p.Leu1771=) c.5310G>C (p.Leu1770=) n.5396G>C | |
19 | g.38485968G>T | CA507353384 | RYR1 | c.5313G>T (p.Leu1771=) c.5310G>T (p.Leu1770=) n.5396G>T | |
19 | g.38485969A= | CA2335046339 | RYR1 | c.5314A= (p.Arg1772=) c.5311A= (p.Arg1771=) n.5397A= | |
19 | g.38485969A>C | CA507353385 | RYR1 | c.5314A>C (p.Arg1772=) c.5311A>C (p.Arg1771=) n.5397A>C | ClinVar |
19 | g.38485969A>G | CA405654623 | RYR1 | c.5314A>G (p.Arg1772Gly) c.5311A>G (p.Arg1771Gly) n.5397A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485969A>T | CA405654626 | RYR1 | c.5314A>T (p.Arg1772Trp) c.5311A>T (p.Arg1771Trp) n.5397A>T | |
19 | g.38485970G>A | CA405654628 | RYR1 | c.5315G>A (p.Arg1772Lys) c.5312G>A (p.Arg1771Lys) n.5398G>A | |
19 | g.38485970G>C | CA405654631 | RYR1 | c.5315G>C (p.Arg1772Thr) c.5312G>C (p.Arg1771Thr) n.5398G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485970G= | CA2335046340 | RYR1 | c.5315G= (p.Arg1772=) c.5312G= (p.Arg1771=) n.5398G= | |
19 | g.38485970G>T | CA405654633 | RYR1 | c.5315G>T (p.Arg1772Met) c.5312G>T (p.Arg1771Met) n.5398G>T | gnomAD v4 |
19 | g.38485971G>A | CA507353386 | RYR1 | c.5316G>A (p.Arg1772=) c.5313G>A (p.Arg1771=) n.5399G>A | |
19 | g.38485971G>C | CA405654635 | RYR1 | c.5316G>C (p.Arg1772Ser) c.5313G>C (p.Arg1771Ser) n.5399G>C | |
19 | g.38485971G>T | CA405654638 | RYR1 | c.5316G>T (p.Arg1772Ser) c.5313G>T (p.Arg1771Ser) n.5399G>T | |
19 | g.38485972C>A | CA405654641 | RYR1 | c.5317C>A (p.Pro1773Thr) c.5314C>A (p.Pro1772Thr) n.5400C>A | |
19 | g.38485972C= | CA2335046341 | RYR1 | c.5317C= (p.Pro1773=) c.5314C= (p.Pro1772=) n.5400C= | |
19 | g.38485972C>G | CA405654644 | RYR1 | c.5317C>G (p.Pro1773Ala) c.5314C>G (p.Pro1772Ala) n.5400C>G | ClinVar dbSNP |
19 | g.38485972C>T | CA066877 | RYR1 | c.5317C>T (p.Pro1773Ser) c.5314C>T (p.Pro1772Ser) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485976dup | CA2832581091 | RYR1 | c.5321dup (p.His1775AlafsTer?) c.5318dup (p.His1774AlafsTer?) n.5404dup | |
19 | g.38485973C>A | CA405654654 | RYR1 | c.5318C>A (p.Pro1773His) c.5315C>A (p.Pro1772His) n.5401C>A | |
19 | g.38485973C= | CA2335046342 | RYR1 | c.5318C= (p.Pro1773=) c.5315C= (p.Pro1772=) n.5401C= | |
19 | g.38485973C>G | CA405654652 | RYR1 | c.5318C>G (p.Pro1773Arg) c.5315C>G (p.Pro1772Arg) n.5401C>G | ClinVar dbSNP |
19 | g.38485973C>T | CA405654649 | RYR1 | c.5318C>T (p.Pro1773Leu) c.5315C>T (p.Pro1772Leu) n.5401C>T | |
19 | g.38485974C>A | CA507353387 | RYR1 | c.5319C>A (p.Pro1773=) c.5316C>A (p.Pro1772=) n.5402C>A | |
19 | g.38485974C= | CA2335046343 | RYR1 | c.5319C= (p.Pro1773=) c.5316C= (p.Pro1772=) n.5402C= | |
19 | g.38485974C>G | CA507353388 | RYR1 | c.5319C>G (p.Pro1773=) c.5316C>G (p.Pro1772=) n.5402C>G | gnomAD v4 |
19 | g.38485974C>T | CA308093632 | RYR1 | c.5319C>T (p.Pro1773=) c.5316C>T (p.Pro1772=) n.5402C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485975C>A | CA405654656 | RYR1 | c.5320C>A (p.Pro1774Thr) c.5317C>A (p.Pro1773Thr) n.5403C>A | |
19 | g.38485975C>G | CA405654659 | RYR1 | c.5320C>G (p.Pro1774Ala) c.5317C>G (p.Pro1773Ala) n.5403C>G | |
19 | g.38485975C>T | CA081758 | RYR1 | c.5320C>T (p.Pro1774Ser) c.5317C>T (p.Pro1773Ser) n.5403C>T | COSMIC |
19 | g.38485976C>A | CA308093638 | RYR1 | c.5321C>A (p.Pro1774Gln) c.5318C>A (p.Pro1773Gln) n.5404C>A | dbSNP gnomAD v4 |
19 | g.38485976C= | CA2335046344 | RYR1 | c.5321C= (p.Pro1774=) c.5318C= (p.Pro1773=) n.5404C= | |
19 | g.38485976C>G | CA405654665 | RYR1 | c.5321C>G (p.Pro1774Arg) c.5318C>G (p.Pro1773Arg) n.5404C>G | |
19 | g.38485976C>T | CA066879 | RYR1 | c.5321C>T (p.Pro1774Leu) c.5318C>T (p.Pro1773Leu) n.5404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485977G>A | CA308093666 | RYR1 | c.5322G>A (p.Pro1774=) c.5319G>A (p.Pro1773=) n.5405G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485977G>C | CA507353389 | RYR1 | c.5322G>C (p.Pro1774=) c.5319G>C (p.Pro1773=) n.5405G>C | |
19 | g.38485977G= | CA2335046345 | RYR1 | c.5322G= (p.Pro1774=) c.5319G= (p.Pro1773=) n.5405G= | |
19 | g.38485977G>T | CA066883 | RYR1 | c.5322G>T (p.Pro1774=) c.5319G>T (p.Pro1773=) n.5405G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485978C>A | CA405654673 | RYR1 | c.5323C>A (p.His1775Asn) c.5320C>A (p.His1774Asn) n.5406C>A | |
19 | g.38485978C>G | CA405654676 | RYR1 | c.5323C>G (p.His1775Asp) c.5320C>G (p.His1774Asp) n.5406C>G | |
19 | g.38485978C>T | CA405654678 | RYR1 | c.5323C>T (p.His1775Tyr) c.5320C>T (p.His1774Tyr) n.5406C>T | |
19 | g.38485979A= | CA2335046346 | RYR1 | c.5324A= (p.His1775=) c.5321A= (p.His1774=) n.5407A= | |
19 | g.38485979A>C | CA405654684 | RYR1 | c.5324A>C (p.His1775Pro) c.5321A>C (p.His1774Pro) n.5407A>C | |
19 | g.38485979A>G | CA066887 | RYR1 | c.5324A>G (p.His1775Arg) c.5321A>G (p.His1774Arg) n.5407A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485979A>T | CA405654681 | RYR1 | c.5324A>T (p.His1775Leu) c.5321A>T (p.His1774Leu) n.5407A>T | |
19 | g.38485980T>A | CA405654688 | RYR1 | c.5325T>A (p.His1775Gln) c.5322T>A (p.His1774Gln) n.5408T>A | |
19 | g.38485980T>C | CA507353390 | RYR1 | c.5325T>C (p.His1775=) c.5322T>C (p.His1774=) n.5408T>C | |
19 | g.38485980T>G | CA405654690 | RYR1 | c.5325T>G (p.His1775Gln) c.5322T>G (p.His1774Gln) n.5408T>G | ClinVar |
19 | g.38485981C>A | CA405654693 | RYR1 | c.5326C>A (p.His1776Asn) c.5323C>A (p.His1775Asn) n.5409C>A | |
19 | g.38485981C>G | CA405654695 | RYR1 | c.5326C>G (p.His1776Asp) c.5323C>G (p.His1775Asp) n.5409C>G | |
19 | g.38485981C>T | CA405654698 | RYR1 | c.5326C>T (p.His1776Tyr) c.5323C>T (p.His1775Tyr) n.5409C>T | COSMIC |
19 | g.38485982A>C | CA405654701 | RYR1 | c.5327A>C (p.His1776Pro) c.5324A>C (p.His1775Pro) n.5410A>C | |
19 | g.38485982A>G | CA081761 | RYR1 | c.5327A>G (p.His1776Arg) c.5324A>G (p.His1775Arg) n.5410A>G | |
19 | g.38485982A>T | CA405654704 | RYR1 | c.5327A>T (p.His1776Leu) c.5324A>T (p.His1775Leu) n.5410A>T | |
19 | g.38485983T>A | CA405654707 | RYR1 | c.5328T>A (p.His1776Gln) c.5325T>A (p.His1775Gln) n.5411T>A | |
19 | g.38485983T>C | CA507353391 | RYR1 | c.5328T>C (p.His1776=) c.5325T>C (p.His1775=) n.5411T>C | |
19 | g.38485983T>G | CA405654710 | RYR1 | c.5328T>G (p.His1776Gln) c.5325T>G (p.His1775Gln) n.5411T>G | |
19 | g.38485984T>A | CA405654713 | RYR1 | c.5329T>A (p.Phe1777Ile) c.5326T>A (p.Phe1776Ile) n.5412T>A | |
19 | g.38485984T>C | CA405654715 | RYR1 | c.5329T>C (p.Phe1777Leu) c.5326T>C (p.Phe1776Leu) n.5412T>C | |
19 | g.38485984T>G | CA405654717 | RYR1 | c.5329T>G (p.Phe1777Val) c.5326T>G (p.Phe1776Val) n.5412T>G | |
19 | g.38485985T>A | CA405654723 | RYR1 | c.5330T>A (p.Phe1777Tyr) c.5327T>A (p.Phe1776Tyr) n.5413T>A | |
19 | g.38485985T>C | CA405654720 | RYR1 | c.5330T>C (p.Phe1777Ser) c.5327T>C (p.Phe1776Ser) n.5413T>C | COSMIC |
19 | g.38485985T>G | CA405654718 | RYR1 | c.5330T>G (p.Phe1777Cys) c.5327T>G (p.Phe1776Cys) n.5413T>G | dbSNP |
19 | g.38485985T= | CA2335046347 | RYR1 | c.5330T= (p.Phe1777=) c.5327T= (p.Phe1776=) n.5413T= | |
19 | g.38485986C>A | CA405654725 | RYR1 | c.5331C>A (p.Phe1777Leu) c.5328C>A (p.Phe1776Leu) n.5414C>A | |
19 | g.38485986C= | CA2335046348 | RYR1 | c.5331C= (p.Phe1777=) c.5328C= (p.Phe1776=) n.5414C= | |
19 | g.38485986C>G | CA405654726 | RYR1 | c.5331C>G (p.Phe1777Leu) c.5328C>G (p.Phe1776Leu) n.5414C>G | |
19 | g.38485986C>T | CA507353392 | RYR1 | c.5331C>T (p.Phe1777=) c.5328C>T (p.Phe1776=) n.5414C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485987T>A | CA405654727 | RYR1 | c.5332T>A (p.Ser1778Thr) c.5329T>A (p.Ser1777Thr) n.5415T>A | |
19 | g.38485987T>C | CA405654728 | RYR1 | c.5332T>C (p.Ser1778Pro) c.5329T>C (p.Ser1777Pro) n.5415T>C | |
19 | g.38485987T>G | CA405654730 | RYR1 | c.5332T>G (p.Ser1778Ala) c.5329T>G (p.Ser1777Ala) n.5415T>G | |
19 | g.38485988C>A | CA024506 | RYR1 | c.5333C>A (p.Ser1778Ter) c.5330C>A (p.Ser1777Ter) n.5416C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38485988C= | CA2335046349 | RYR1 | c.5333C= (p.Ser1778=) c.5330C= (p.Ser1777=) n.5416C= | |
19 | g.38485988C>G | CA405654733 | RYR1 | c.5333C>G (p.Ser1778Trp) c.5330C>G (p.Ser1777Trp) n.5416C>G | |
19 | g.38485988C>T | CA066890 | RYR1 | c.5333C>T (p.Ser1778Leu) c.5330C>T (p.Ser1777Leu) n.5416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485989G>A | CA066894 | RYR1 | c.5334G>A (p.Ser1778=) c.5331G>A (p.Ser1777=) n.5417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485989G>C | CA507353393 | RYR1 | c.5334G>C (p.Ser1778=) c.5331G>C (p.Ser1777=) n.5417G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485989G= | CA2335046350 | RYR1 | c.5334G= (p.Ser1778=) c.5331G= (p.Ser1777=) n.5417G= | |
19 | g.38485989G>T | CA024509 | RYR1 | c.5334G>T (p.Ser1778=) c.5331G>T (p.Ser1777=) n.5417G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485990C>A | CA405654738 | RYR1 | c.5335C>A (p.Pro1779Thr) c.5332C>A (p.Pro1778Thr) n.5418C>A | |
19 | g.38485990C= | CA2335046351 | RYR1 | c.5335C= (p.Pro1779=) c.5332C= (p.Pro1778=) n.5418C= | |
19 | g.38485990C>G | CA405654740 | RYR1 | c.5335C>G (p.Pro1779Ala) c.5332C>G (p.Pro1778Ala) n.5418C>G | COSMIC |
19 | g.38485990C>T | CA066902 | RYR1 | c.5335C>T (p.Pro1779Ser) c.5332C>T (p.Pro1778Ser) n.5418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485995dup | CA633066093 | RYR1 | c.5340dup (p.Cys1781LeufsTer?) c.5337dup (p.Cys1780LeufsTer?) n.5423dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485995del | CA2825002783 | RYR1 | c.5340del (p.Cys1781ValfsTer?) c.5337del (p.Cys1780ValfsTer?) n.5423del | ClinVar |
19 | g.38485991C>A | CA066907 | RYR1 | c.5336C>A (p.Pro1779His) c.5333C>A (p.Pro1778His) n.5419C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485991C= | CA2335046352 | RYR1 | c.5336C= (p.Pro1779=) c.5333C= (p.Pro1778=) n.5419C= | |
19 | g.38485991C>G | CA405654744 | RYR1 | c.5336C>G (p.Pro1779Arg) c.5333C>G (p.Pro1778Arg) n.5419C>G | |
19 | g.38485991C>T | CA024511 | RYR1 | c.5336C>T (p.Pro1779Leu) c.5333C>T (p.Pro1778Leu) n.5419C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485992C>A | CA507353394 | RYR1 | c.5337C>A (p.Pro1779=) c.5334C>A (p.Pro1778=) n.5420C>A | |
19 | g.38485992C>G | CA507353395 | RYR1 | c.5337C>G (p.Pro1779=) c.5334C>G (p.Pro1778=) n.5420C>G | ClinVar |
19 | g.38485992C>T | CA507353396 | RYR1 | c.5337C>T (p.Pro1779=) c.5334C>T (p.Pro1778=) n.5420C>T | |
19 | g.38485993C>A | CA405654747 | RYR1 | c.5338C>A (p.Pro1780Thr) c.5335C>A (p.Pro1779Thr) n.5421C>A | dbSNP |
19 | g.38485993C= | CA2335046353 | RYR1 | c.5338C= (p.Pro1780=) c.5335C= (p.Pro1779=) n.5421C= | |
19 | g.38485993C>G | CA405654749 | RYR1 | c.5338C>G (p.Pro1780Ala) c.5335C>G (p.Pro1779Ala) n.5421C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485993C>T | CA081764 | RYR1 | c.5338C>T (p.Pro1780Ser) c.5335C>T (p.Pro1779Ser) n.5421C>T | gnomAD v4 COSMIC |
19 | g.38485994C>A | CA081765 | RYR1 | c.5339C>A (p.Pro1780His) c.5336C>A (p.Pro1779His) n.5422C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485994C= | CA2335046354 | RYR1 | c.5339C= (p.Pro1780=) c.5336C= (p.Pro1779=) n.5422C= | |
19 | g.38485994C>G | CA9415807 | RYR1 | c.5339C>G (p.Pro1780Arg) c.5336C>G (p.Pro1779Arg) n.5422C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485994C>T | CA9415808 | RYR1 | c.5339C>T (p.Pro1780Leu) c.5336C>T (p.Pro1779Leu) n.5422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485994_38485996delinsCCT | CA2335046355 | RYR1 | c.5339_5341delinsCCT (p.Pro1780=) c.5336_5338delinsCCT (p.Pro1779=) n.5422_5424delinsCCT | |
19 | g.38485995C>A | CA507353397 | RYR1 | c.5340C>A (p.Pro1780=) c.5337C>A (p.Pro1779=) n.5423C>A | gnomAD v4 |
19 | g.38485995C>G | CA507353398 | RYR1 | c.5340C>G (p.Pro1780=) c.5337C>G (p.Pro1779=) n.5423C>G | |
19 | g.38485995C>T | CA507353399 | RYR1 | c.5340C>T (p.Pro1780=) c.5337C>T (p.Pro1779=) n.5423C>T | |
19 | g.38485995_38485996del | CA9415809 | RYR1 | c.5340_5341del (p.Cys1781PhefsTer?) c.5337_5338del (p.Cys1780PhefsTer?) n.5423_5424del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485996T>A | CA405654757 | RYR1 | c.5341T>A (p.Cys1781Ser) c.5338T>A (p.Cys1780Ser) n.5424T>A | |
19 | g.38485996T>C | CA066926 | RYR1 | c.5341T>C (p.Cys1781Arg) c.5338T>C (p.Cys1780Arg) n.5424T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485996T>G | CA405654756 | RYR1 | c.5341T>G (p.Cys1781Gly) c.5338T>G (p.Cys1780Gly) n.5424T>G | |
19 | g.38485996T= | CA2335046356 | RYR1 | c.5341T= (p.Cys1781=) c.5338T= (p.Cys1780=) n.5424T= | |
19 | g.38485997_38485999del | CA081766 | RYR1 | c.5342_5344del (p.Cys1781del) c.5339_5341del (p.Cys1780del) n.5425_5427del | |
19 | g.38485997G>A | CA405654759 | RYR1 | c.5342G>A (p.Cys1781Tyr) c.5339G>A (p.Cys1780Tyr) n.5425G>A | |
19 | g.38485997G>C | CA405654761 | RYR1 | c.5342G>C (p.Cys1781Ser) c.5339G>C (p.Cys1780Ser) n.5425G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485997G= | CA2335046357 | RYR1 | c.5342G= (p.Cys1781=) c.5339G= (p.Cys1780=) n.5425G= | |
19 | g.38485997G>T | CA405654762 | RYR1 | c.5342G>T (p.Cys1781Phe) c.5339G>T (p.Cys1780Phe) n.5425G>T | |
19 | g.38485998T>A | CA405654765 | RYR1 | c.5343T>A (p.Cys1781Ter) c.5340T>A (p.Cys1780Ter) n.5426T>A | |
19 | g.38485998T>C | CA507353400 | RYR1 | c.5343T>C (p.Cys1781=) c.5340T>C (p.Cys1780=) n.5426T>C | |
19 | g.38485998T>G | CA405654766 | RYR1 | c.5343T>G (p.Cys1781Trp) c.5340T>G (p.Cys1780Trp) n.5426T>G | |
19 | g.38486000del | CA2695228661 | RYR1 | c.5345del (p.Phe1782SerfsTer?) c.5342del (p.Phe1781SerfsTer?) n.5428del | |
19 | g.38485999T>A | CA405654768 | RYR1 | c.5344T>A (p.Phe1782Ile) c.5341T>A (p.Phe1781Ile) n.5427T>A | |
19 | g.38485999T>C | CA081770 | RYR1 | c.5344T>C (p.Phe1782Leu) c.5341T>C (p.Phe1781Leu) n.5427T>C | |
19 | g.38485999T>G | CA405654769 | RYR1 | c.5344T>G (p.Phe1782Val) c.5341T>G (p.Phe1781Val) n.5427T>G | |
19 | g.38486000T>A | CA405654771 | RYR1 | c.5345T>A (p.Phe1782Tyr) c.5342T>A (p.Phe1781Tyr) n.5428T>A | |
19 | g.38486000T>C | CA405654772 | RYR1 | c.5345T>C (p.Phe1782Ser) c.5342T>C (p.Phe1781Ser) n.5428T>C | gnomAD v4 |
19 | g.38486000T>G | CA405654774 | RYR1 | c.5345T>G (p.Phe1782Cys) c.5342T>G (p.Phe1781Cys) n.5428T>G | |
19 | g.38486001C>A | CA405654777 | RYR1 | c.5346C>A (p.Phe1782Leu) c.5343C>A (p.Phe1781Leu) n.5429C>A | |
19 | g.38486001C= | CA2335046358 | RYR1 | c.5346C= (p.Phe1782=) c.5343C= (p.Phe1781=) n.5429C= | |
19 | g.38486001C>G | CA405654780 | RYR1 | c.5346C>G (p.Phe1782Leu) c.5343C>G (p.Phe1781Leu) n.5429C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486001C>T | CA066930 | RYR1 | c.5346C>T (p.Phe1782=) c.5343C>T (p.Phe1781=) n.5429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38486002G>A | CA066934 | RYR1 | c.5347G>A (p.Val1783Met) c.5344G>A (p.Val1782Met) n.5430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38486002G>C | CA405654783 | RYR1 | c.5347G>C (p.Val1783Leu) c.5344G>C (p.Val1782Leu) n.5430G>C | |
19 | g.38486002G= | CA2335046359 | RYR1 | c.5347G= (p.Val1783=) c.5344G= (p.Val1782=) n.5430G= | |
19 | g.38486002G>T | CA066937 | RYR1 | c.5347G>T (p.Val1783Leu) c.5344G>T (p.Val1782Leu) n.5430G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38486003T>A | CA405654787 | RYR1 | c.5348T>A (p.Val1783Glu) c.5345T>A (p.Val1782Glu) n.5431T>A | |
19 | g.38486003T>C | CA405654788 | RYR1 | c.5348T>C (p.Val1783Ala) c.5345T>C (p.Val1782Ala) n.5431T>C | |
19 | g.38486003T>G | CA405654790 | RYR1 | c.5348T>G (p.Val1783Gly) c.5345T>G (p.Val1782Gly) n.5431T>G | |
19 | g.38486004G>A | CA507353405 | RYR1 | c.5349G>A (p.Val1783=) c.5346G>A (p.Val1782=) n.5432G>A | |
19 | g.38486004G>C | CA507353406 | RYR1 | c.5349G>C (p.Val1783=) c.5346G>C (p.Val1782=) n.5432G>C | |
19 | g.38486004G>T | CA507353407 | RYR1 | c.5349G>T (p.Val1783=) c.5346G>T (p.Val1782=) n.5432G>T | |
19 | g.38486005G>A | CA081772 | RYR1 | c.5350G>A (p.Ala1784Thr) c.5347G>A (p.Ala1783Thr) n.5433G>A | |
19 | g.38486005G>C | CA405654794 | RYR1 | c.5350G>C (p.Ala1784Pro) c.5347G>C (p.Ala1783Pro) n.5433G>C | |
19 | g.38486005G>T | CA081773 | RYR1 | c.5350G>T (p.Ala1784Ser) c.5347G>T (p.Ala1783Ser) n.5433G>T | |
19 | g.38486006C>A | CA066942 | RYR1 | c.5351C>A (p.Ala1784Asp) c.5348C>A (p.Ala1783Asp) n.5434C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486006C= | CA2335046360 | RYR1 | c.5351C= (p.Ala1784=) c.5348C= (p.Ala1783=) n.5434C= | |
19 | g.38486006C>G | CA405654797 | RYR1 | c.5351C>G (p.Ala1784Gly) c.5348C>G (p.Ala1783Gly) n.5434C>G | gnomAD v4 |
19 | g.38486006C>T | CA405654796 | RYR1 | c.5351C>T (p.Ala1784Val) c.5348C>T (p.Ala1783Val) n.5434C>T | gnomAD v4 |
19 | g.38486007C>A | CA308093729 | RYR1 | c.5352C>A (p.Ala1784=) c.5349C>A (p.Ala1783=) n.5435C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486007C= | CA2335046361 | RYR1 | c.5352C= (p.Ala1784=) c.5349C= (p.Ala1783=) n.5435C= | |
19 | g.38486007C>G | CA507353408 | RYR1 | c.5352C>G (p.Ala1784=) c.5349C>G (p.Ala1783=) n.5435C>G | |
19 | g.38486007C>T | CA507353409 | RYR1 | c.5352C>T (p.Ala1784=) c.5349C>T (p.Ala1783=) n.5435C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38486008G>A | CA405654799 | RYR1 | c.5353G>A (p.Ala1785Thr) c.5350G>A (p.Ala1784Thr) n.5436G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486008G>C | CA308093731 | RYR1 | c.5353G>C (p.Ala1785Pro) c.5350G>C (p.Ala1784Pro) n.5436G>C | dbSNP |
19 | g.38486008G= | CA2335046362 | RYR1 | c.5353G= (p.Ala1785=) c.5350G= (p.Ala1784=) n.5436G= | |
19 | g.38486008G>T | CA405654801 | RYR1 | c.5353G>T (p.Ala1785Ser) c.5350G>T (p.Ala1784Ser) n.5436G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486009C>A | CA081774 | RYR1 | c.5354C>A (p.Ala1785Asp) c.5351C>A (p.Ala1784Asp) n.5437C>A | |
19 | g.38486009C>G | CA405654805 | RYR1 | c.5354C>G (p.Ala1785Gly) c.5351C>G (p.Ala1784Gly) n.5437C>G | |
19 | g.38486009C>T | CA405654808 | RYR1 | c.5354C>T (p.Ala1785Val) c.5351C>T (p.Ala1784Val) n.5437C>T | gnomAD v4 |
19 | g.38486010T>A | CA507353411 | RYR1 | c.5355T>A (p.Ala1785=) c.5352T>A (p.Ala1784=) n.5438T>A | |
19 | g.38486010T>C | CA507353413 | RYR1 | c.5355T>C (p.Ala1785=) c.5352T>C (p.Ala1784=) n.5438T>C | |
19 | g.38486010T>G | CA507353414 | RYR1 | c.5355T>G (p.Ala1785=) c.5352T>G (p.Ala1784=) n.5438T>G | |
19 | g.38486011C>A | CA405654811 | RYR1 | c.5356C>A (p.Leu1786Met) c.5353C>A (p.Leu1785Met) n.5439C>A | gnomAD v4 |
19 | g.38486011C= | CA2335046363 | RYR1 | c.5356C= (p.Leu1786=) c.5353C= (p.Leu1785=) n.5439C= | |
19 | g.38486011C>G | CA405654816 | RYR1 | c.5356C>G (p.Leu1786Val) c.5353C>G (p.Leu1785Val) n.5439C>G | |
19 | g.38486011C>T | CA507353416 | RYR1 | c.5356C>T (p.Leu1786=) c.5353C>T (p.Leu1785=) n.5439C>T | dbSNP |
19 | g.38486012T>A | CA405654818 | RYR1 | c.5357T>A (p.Leu1786Gln) c.5354T>A (p.Leu1785Gln) n.5440T>A | |
19 | g.38486012T>C | CA405654821 | RYR1 | c.5357T>C (p.Leu1786Pro) c.5354T>C (p.Leu1785Pro) n.5440T>C | |
19 | g.38486012T>G | CA405654823 | RYR1 | c.5357T>G (p.Leu1786Arg) c.5354T>G (p.Leu1785Arg) n.5440T>G | |
19 | g.38486013G>A | CA507353421 | RYR1 | c.5358G>A (p.Leu1786=) c.5355G>A (p.Leu1785=) n.5441G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486013G>C | CA507353422 | RYR1 | c.5358G>C (p.Leu1786=) c.5355G>C (p.Leu1785=) n.5441G>C | |
19 | g.38486013G= | CA2335046364 | RYR1 | c.5358G= (p.Leu1786=) c.5355G= (p.Leu1785=) n.5441G= | |
19 | g.38486013G>T | CA507353423 | RYR1 | c.5358G>T (p.Leu1786=) c.5355G>T (p.Leu1785=) n.5441G>T | |
19 | g.38486014C>A | CA405654830 | RYR1 | c.5359C>A (p.Pro1787Thr) c.5356C>A (p.Pro1786Thr) n.5442C>A | gnomAD v4 |
19 | g.38486014C>G | CA405654826 | RYR1 | c.5359C>G (p.Pro1787Ala) c.5356C>G (p.Pro1786Ala) n.5442C>G | |
19 | g.38486014C>T | CA405654829 | RYR1 | c.5359C>T (p.Pro1787Ser) c.5356C>T (p.Pro1786Ser) n.5442C>T | COSMIC |
19 | g.38486015C>A | CA405654832 | RYR1 | c.5360C>A (p.Pro1787Gln) c.5357C>A (p.Pro1786Gln) n.5443C>A | |
19 | g.38486015C= | CA2335046365 | RYR1 | c.5360C= (p.Pro1787=) c.5357C= (p.Pro1786=) n.5443C= | |
19 | g.38486015C>G | CA405654834 | RYR1 | c.5360C>G (p.Pro1787Arg) c.5357C>G (p.Pro1786Arg) n.5443C>G | |
19 | g.38486015C>T | CA024515 | RYR1 | c.5360C>T (p.Pro1787Leu) c.5357C>T (p.Pro1786Leu) n.5443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486016A= | CA2335046366 | RYR1 | c.5361A= (p.Pro1787=) c.5358A= (p.Pro1786=) n.5444A= | |
19 | g.38486016A>C | CA507353428 | RYR1 | c.5361A>C (p.Pro1787=) c.5358A>C (p.Pro1786=) n.5444A>C | |
19 | g.38486016A>G | CA066948 | RYR1 | c.5361A>G (p.Pro1787=) c.5358A>G (p.Pro1786=) n.5444A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38486016A>T | CA507353427 | RYR1 | c.5361A>T (p.Pro1787=) c.5358A>T (p.Pro1786=) n.5444A>T | |
19 | g.38486017G>A | CA405654842 | RYR1 | c.5362G>A (p.Ala1788Thr) c.5359G>A (p.Ala1787Thr) n.5445G>A | |
19 | g.38486017G>C | CA405654845 | RYR1 | c.5362G>C (p.Ala1788Pro) c.5359G>C (p.Ala1787Pro) n.5445G>C | |
19 | g.38486017G>T | CA405654848 | RYR1 | c.5362G>T (p.Ala1788Ser) c.5359G>T (p.Ala1787Ser) n.5445G>T | gnomAD v4 |
19 | g.38486018C>A | CA405654850 | RYR1 | c.5363C>A (p.Ala1788Asp) c.5360C>A (p.Ala1787Asp) n.5446C>A | |
19 | g.38486018C>G | CA405654852 | RYR1 | c.5363C>G (p.Ala1788Gly) c.5360C>G (p.Ala1787Gly) n.5446C>G | |
19 | g.38486018C>T | CA081775 | RYR1 | c.5363C>T (p.Ala1788Val) c.5360C>T (p.Ala1787Val) n.5446C>T | |
19 | g.38486019T>A | CA507353431 | RYR1 | c.5364T>A (p.Ala1788=) c.5361T>A (p.Ala1787=) n.5447T>A | |
19 | g.38486019T>C | CA507353430 | RYR1 | c.5364T>C (p.Ala1788=) c.5361T>C (p.Ala1787=) n.5447T>C | |
19 | g.38486019T>G | CA024516 | RYR1 | c.5364T>G (p.Ala1788=) c.5361T>G (p.Ala1787=) n.5447T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486019T= | CA2335046367 | RYR1 | c.5364T= (p.Ala1788=) c.5361T= (p.Ala1787=) n.5447T= | |
19 | g.38486020G>A | CA066953 | RYR1 | c.5365G>A (p.Ala1789Thr) c.5362G>A (p.Ala1788Thr) n.5448G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486020G>C | CA405654863 | RYR1 | c.5365G>C (p.Ala1789Pro) c.5362G>C (p.Ala1788Pro) n.5448G>C | |
19 | g.38486020G= | CA2335046368 | RYR1 | c.5365G= (p.Ala1789=) c.5362G= (p.Ala1788=) n.5448G= | |
19 | g.38486020G>T | CA405654856 | RYR1 | c.5365G>T (p.Ala1789Ser) c.5362G>T (p.Ala1788Ser) n.5448G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38486021C>A | CA405654866 | RYR1 | c.5366C>A (p.Ala1789Asp) c.5363C>A (p.Ala1788Asp) n.5449C>A | |
19 | g.38486021C= | CA2335046369 | RYR1 | c.5366C= (p.Ala1789=) c.5363C= (p.Ala1788=) n.5449C= | |
19 | g.38486021C>G | CA405654868 | RYR1 | c.5366C>G (p.Ala1789Gly) c.5363C>G (p.Ala1788Gly) n.5449C>G | |
19 | g.38486021C>T | CA405654872 | RYR1 | c.5366C>T (p.Ala1789Val) c.5363C>T (p.Ala1788Val) n.5449C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486022T>A | CA507353432 | RYR1 | c.5367T>A (p.Ala1789=) c.5364T>A (p.Ala1788=) n.5450T>A | |
19 | g.38486022T>C | CA507353434 | RYR1 | c.5367T>C (p.Ala1789=) c.5364T>C (p.Ala1788=) n.5450T>C | gnomAD v4 |
19 | g.38486022T>G | CA081777 | RYR1 | c.5367T>G (p.Ala1789=) c.5364T>G (p.Ala1788=) n.5450T>G |