| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.119185983del | CA786094099 | MYOZ2 | c.578del (p.Gly193GlufsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185983G>A | CA358201390 | MYOZ2 | c.578G>A (p.Gly193Glu) | |
| 4 | g.119185983G>C | CA358201392 | MYOZ2 | c.578G>C (p.Gly193Ala) | |
| 4 | g.119185983G>T | CA358201393 | MYOZ2 | c.578G>T (p.Gly193Val) | |
| 4 | g.119185984A>C | CA441001799 | MYOZ2 | c.579A>C (p.Gly193=) | |
| 4 | g.119185984A>G | CA441001802 | MYOZ2 | c.579A>G (p.Gly193=) | |
| 4 | g.119185984A>T | CA441001805 | MYOZ2 | c.579A>T (p.Gly193=) | |
| 4 | g.119185985G>A | CA358201395 | MYOZ2 | c.580G>A (p.Gly194Ser) | gnomAD v4 |
| 4 | g.119185985G>C | CA358201397 | MYOZ2 | c.580G>C (p.Gly194Arg) | |
| 4 | g.119185985G>T | CA358201399 | MYOZ2 | c.580G>T (p.Gly194Cys) | |
| 4 | g.119185986G>A | CA358201400 | MYOZ2 | c.581G>A (p.Gly194Asp) | ClinVar dbSNP |
| 4 | g.119185986G>C | CA358201402 | MYOZ2 | c.581G>C (p.Gly194Ala) | |
| 4 | g.119185986G= | CA1488821462 | MYOZ2 | c.581G= (p.Gly194=) | |
| 4 | g.119185986G>T | CA358201404 | MYOZ2 | c.581G>T (p.Gly194Val) | |
| 4 | g.119185987T>A | CA441001812 | MYOZ2 | c.582T>A (p.Gly194=) | |
| 4 | g.119185987T>C | CA441001815 | MYOZ2 | c.582T>C (p.Gly194=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185987T>G | CA441001814 | MYOZ2 | c.582T>G (p.Gly194=) | |
| 4 | g.119185987T= | CA1488821463 | MYOZ2 | c.582T= (p.Gly194=) | |
| 4 | g.119185988T>A | CA3058684 | MYOZ2 | c.583T>A (p.Phe195Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185988T>C | CA3058685 | MYOZ2 | c.583T>C (p.Phe195Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119185988T>G | CA358201406 | MYOZ2 | c.583T>G (p.Phe195Val) | |
| 4 | g.119185988T= | CA1488821464 | MYOZ2 | c.583T= (p.Phe195=) | |
| 4 | g.119185989T>A | CA358201410 | MYOZ2 | c.584T>A (p.Phe195Tyr) | |
| 4 | g.119185989T>C | CA358201411 | MYOZ2 | c.584T>C (p.Phe195Ser) | |
| 4 | g.119185989T>G | CA358201413 | MYOZ2 | c.584T>G (p.Phe195Cys) | |
| 4 | g.119185990T>A | CA358201414 | MYOZ2 | c.585T>A (p.Phe195Leu) | gnomAD v4 |
| 4 | g.119185990T>C | CA441001828 | MYOZ2 | c.585T>C (p.Phe195=) | gnomAD v4 |
| 4 | g.119185990T>G | CA358201416 | MYOZ2 | c.585T>G (p.Phe195Leu) | |
| 4 | g.119185990_119185991delinsTG | CA1488821465 | MYOZ2 | c.585_586delinsTG (p.Phe195=) | |
| 4 | g.119185991del | CA1488821467 | MYOZ2 | c.586del (p.Glu196LysfsTer19) | dbSNP |
| 4 | g.119185991G>A | CA358201418 | MYOZ2 | c.586G>A (p.Glu196Lys) | gnomAD v4 COSMIC |
| 4 | g.119185991G>C | CA358201420 | MYOZ2 | c.586G>C (p.Glu196Gln) | |
| 4 | g.119185991G>T | CA358201421 | MYOZ2 | c.586G>T (p.Glu196Ter) | COSMIC |
| 4 | g.119185991_119185992delinsGA | CA1488821466 | MYOZ2 | c.586_587delinsGA (p.Glu196=) | |
| 4 | g.119185992A>C | CA358201423 | MYOZ2 | c.587A>C (p.Glu196Ala) | |
| 4 | g.119185992A>G | CA358201425 | MYOZ2 | c.587A>G (p.Glu196Gly) | |
| 4 | g.119185992A>T | CA358201427 | MYOZ2 | c.587A>T (p.Glu196Val) | |
| 4 | g.119185996del | CA1139658609 | MYOZ2 | c.591del (p.Ala198HisfsTer17) | ClinVar dbSNP gnomAD v4 |
| 4 | g.119185993A= | CA1488821468 | MYOZ2 | c.588A= (p.Glu196=) | |
| 4 | g.119185993A>C | CA358201428 | MYOZ2 | c.588A>C (p.Glu196Asp) | |
| 4 | g.119185993A>G | CA441001838 | MYOZ2 | c.588A>G (p.Glu196=) | dbSNP |
| 4 | g.119185993A>T | CA358201430 | MYOZ2 | c.588A>T (p.Glu196Asp) | |
| 4 | g.119185994A>C | CA358201433 | MYOZ2 | c.589A>C (p.Lys197Gln) | |
| 4 | g.119185994A>G | CA358201435 | MYOZ2 | c.589A>G (p.Lys197Glu) | dbSNP |
| 4 | g.119185994A>T | CA358201432 | MYOZ2 | c.589A>T (p.Lys197Ter) | |
| 4 | g.119185995A>C | CA358201438 | MYOZ2 | c.590A>C (p.Lys197Thr) | |
| 4 | g.119185995A>G | CA358201439 | MYOZ2 | c.590A>G (p.Lys197Arg) | |
| 4 | g.119185995A>T | CA358201441 | MYOZ2 | c.590A>T (p.Lys197Ile) | |
| 4 | g.119185996A>C | CA358201443 | MYOZ2 | c.591A>C (p.Lys197Asn) | |
| 4 | g.119185996A>G | CA441001844 | MYOZ2 | c.591A>G (p.Lys197=) | |
| 4 | g.119185996A>T | CA358201445 | MYOZ2 | c.591A>T (p.Lys197Asn) | |
| 4 | g.119185997G>A | CA358201447 | MYOZ2 | c.592G>A (p.Ala198Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119185997G>C | CA358201448 | MYOZ2 | c.592G>C (p.Ala198Pro) | |
| 4 | g.119185997G= | CA1488821469 | MYOZ2 | c.592G= (p.Ala198=) | |
| 4 | g.119185997G>T | CA358201449 | MYOZ2 | c.592G>T (p.Ala198Ser) | ClinVar |
| 4 | g.119185998C>A | CA104974203 | MYOZ2 | c.593C>A (p.Ala198Glu) | dbSNP |
| 4 | g.119185998C= | CA1488821470 | MYOZ2 | c.593C= (p.Ala198=) | |
| 4 | g.119185998C>G | CA358201451 | MYOZ2 | c.593C>G (p.Ala198Gly) | |
| 4 | g.119185998C>T | CA358201453 | MYOZ2 | c.593C>T (p.Ala198Val) | |
| 4 | g.119185999A>C | CA441001858 | MYOZ2 | c.594A>C (p.Ala198=) | |
| 4 | g.119185999A>G | CA441001859 | MYOZ2 | c.594A>G (p.Ala198=) | |
| 4 | g.119185999A>T | CA441001860 | MYOZ2 | c.594A>T (p.Ala198=) | |
| 4 | g.119186000T>A | CA3058686 | MYOZ2 | c.595T>A (p.Ser199Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119186000T>C | CA358201457 | MYOZ2 | c.595T>C (p.Ser199Pro) | |
| 4 | g.119186000T>G | CA358201456 | MYOZ2 | c.595T>G (p.Ser199Ala) | |
| 4 | g.119186000T= | CA1488821471 | MYOZ2 | c.595T= (p.Ser199=) | |
| 4 | g.119186001C>A | CA358201461 | MYOZ2 | c.596C>A (p.Ser199Ter) | |
| 4 | g.119186001C>G | CA358201462 | MYOZ2 | c.596C>G (p.Ser199Ter) | |
| 4 | g.119186001C>T | CA358201464 | MYOZ2 | c.596C>T (p.Ser199Leu) | |
| 4 | g.119186002A= | CA1488821472 | MYOZ2 | c.597A= (p.Ser199=) | |
| 4 | g.119186002A>C | CA441001866 | MYOZ2 | c.597A>C (p.Ser199=) | |
| 4 | g.119186002A>G | CA441001867 | MYOZ2 | c.597A>G (p.Ser199=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119186002A>T | CA441001868 | MYOZ2 | c.597A>T (p.Ser199=) | |
| 4 | g.119186003A= | CA1488821473 | MYOZ2 | c.598A= (p.Arg200=) | |
| 4 | g.119186003A>C | CA441001871 | MYOZ2 | c.598A>C (p.Arg200=) | gnomAD v4 |
| 4 | g.119186003A>G | CA358201465 | MYOZ2 | c.598A>G (p.Arg200Gly) | dbSNP |
| 4 | g.119186003A>T | CA358201467 | MYOZ2 | c.598A>T (p.Arg200Ter) | |
| 4 | g.119186004G>A | CA358201469 | MYOZ2 | c.599G>A (p.Arg200Lys) | dbSNP |
| 4 | g.119186004G>C | CA358201471 | MYOZ2 | c.599G>C (p.Arg200Thr) | |
| 4 | g.119186004G= | CA1488821474 | MYOZ2 | c.599G= (p.Arg200=) | |
| 4 | g.119186004G>T | CA358201473 | MYOZ2 | c.599G>T (p.Arg200Ile) | |
| 4 | g.119186005A>C | CA358201475 | MYOZ2 | c.600A>C (p.Arg200Ser) | |
| 4 | g.119186005A>G | CA441001877 | MYOZ2 | c.600A>G (p.Arg200=) | |
| 4 | g.119186005A>T | CA358201477 | MYOZ2 | c.600A>T (p.Arg200Ser) | |
| 4 | g.119186006A>C | CA358201479 | MYOZ2 | c.601A>C (p.Met201Leu) | |
| 4 | g.119186006A>G | CA358201481 | MYOZ2 | c.601A>G (p.Met201Val) | |
| 4 | g.119186006A>T | CA358201482 | MYOZ2 | c.601A>T (p.Met201Leu) | |
| 4 | g.119186007T>A | CA358201487 | MYOZ2 | c.602T>A (p.Met201Lys) | |
| 4 | g.119186007T>C | CA358201488 | MYOZ2 | c.602T>C (p.Met201Thr) | |
| 4 | g.119186007T>G | CA358201485 | MYOZ2 | c.602T>G (p.Met201Arg) | |
| 4 | g.119186008G>A | CA358201493 | MYOZ2 | c.603G>A (p.Met201Ile) | dbSNP gnomAD v4 COSMIC |
| 4 | g.119186008G>C | CA358201491 | MYOZ2 | c.603G>C (p.Met201Ile) | |
| 4 | g.119186008G= | CA1488821475 | MYOZ2 | c.603G= (p.Met201=) | |
| 4 | g.119186008G>T | CA358201492 | MYOZ2 | c.603G>T (p.Met201Ile) | |
| 4 | g.119186009G>A | CA358201495 | MYOZ2 | c.604G>A (p.Val202Ile) | |
| 4 | g.119186009G>C | CA358201497 | MYOZ2 | c.604G>C (p.Val202Leu) | |
| 4 | g.119186009G>T | CA358201498 | MYOZ2 | c.604G>T (p.Val202Phe) | |
| 4 | g.119186010T>A | CA358201503 | MYOZ2 | c.605T>A (p.Val202Asp) | |
| 4 | g.119186010T>C | CA358201504 | MYOZ2 | c.605T>C (p.Val202Ala) | |
| 4 | g.119186010T>G | CA358201506 | MYOZ2 | c.605T>G (p.Val202Gly) | |
| 4 | g.119186015_119186020del | CA2578177049 | MYOZ2 | c.610_615del (p.Phe204_Lys205del) | |
| 4 | g.119186011T>A | CA3058687 | MYOZ2 | c.606T>A (p.Val202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119186011T>C | CA441001893 | MYOZ2 | c.606T>C (p.Val202=) | |
| 4 | g.119186011T>G | CA441001895 | MYOZ2 | c.606T>G (p.Val202=) | |
| 4 | g.119186011T= | CA1488821476 | MYOZ2 | c.606T= (p.Val202=) | |
| 4 | g.119186012A>C | CA358201509 | MYOZ2 | c.607A>C (p.Lys203Gln) | |
| 4 | g.119186012A>G | CA358201510 | MYOZ2 | c.607A>G (p.Lys203Glu) | |
| 4 | g.119186012A>T | CA358201512 | MYOZ2 | c.607A>T (p.Lys203Ter) | |
| 4 | g.119186013A>C | CA358201517 | MYOZ2 | c.608A>C (p.Lys203Thr) | |
| 4 | g.119186013A>G | CA358201515 | MYOZ2 | c.608A>G (p.Lys203Arg) | |
| 4 | g.119186013A>T | CA358201514 | MYOZ2 | c.608A>T (p.Lys203Ile) | |
| 4 | g.119186014A>C | CA358201519 | MYOZ2 | c.609A>C (p.Lys203Asn) | COSMIC |
| 4 | g.119186014A>G | CA441001907 | MYOZ2 | c.609A>G (p.Lys203=) | COSMIC |
| 4 | g.119186014A>T | CA358201521 | MYOZ2 | c.609A>T (p.Lys203Asn) | |
| 4 | g.119186015T>A | CA358201528 | MYOZ2 | c.610T>A (p.Phe204Ile) | |
| 4 | g.119186015T>C | CA358201529 | MYOZ2 | c.610T>C (p.Phe204Leu) | |
| 4 | g.119186015T>G | CA358201531 | MYOZ2 | c.610T>G (p.Phe204Val) | |
| 4 | g.119186016T>A | CA358201534 | MYOZ2 | c.611T>A (p.Phe204Tyr) | |
| 4 | g.119186016T>C | CA358201535 | MYOZ2 | c.611T>C (p.Phe204Ser) | gnomAD v4 |
| 4 | g.119186016T>G | CA358201537 | MYOZ2 | c.611T>G (p.Phe204Cys) | |
| 4 | g.119186017T>A | CA358201540 | MYOZ2 | c.612T>A (p.Phe204Leu) | |
| 4 | g.119186017T>C | CA441001912 | MYOZ2 | c.612T>C (p.Phe204=) | dbSNP |
| 4 | g.119186017T>G | CA358201541 | MYOZ2 | c.612T>G (p.Phe204Leu) | |
| 4 | g.119186017T= | CA1488821477 | MYOZ2 | c.612T= (p.Phe204=) | |
| 4 | g.119186018A>C | CA358201543 | MYOZ2 | c.613A>C (p.Lys205Gln) | |
| 4 | g.119186018A>G | CA358201545 | MYOZ2 | c.613A>G (p.Lys205Glu) | |
| 4 | g.119186018A>T | CA358201546 | MYOZ2 | c.613A>T (p.Lys205Ter) | |
| 4 | g.119186019A>C | CA358201550 | MYOZ2 | c.614A>C (p.Lys205Thr) | |
| 4 | g.119186019A>G | CA358201551 | MYOZ2 | c.614A>G (p.Lys205Arg) | |
| 4 | g.119186019A>T | CA358201548 | MYOZ2 | c.614A>T (p.Lys205Ile) | |
| 4 | g.119186020A= | CA1488821478 | MYOZ2 | c.615A= (p.Lys205=) | |
| 4 | g.119186020A>C | CA358201553 | MYOZ2 | c.615A>C (p.Lys205Asn) | |
| 4 | g.119186020A>G | CA441001931 | MYOZ2 | c.615A>G (p.Lys205=) | dbSNP |
| 4 | g.119186020A>T | CA358201554 | MYOZ2 | c.615A>T (p.Lys205Asn) | |
| 4 | g.119186021G>A | CA358201556 | MYOZ2 | c.616G>A (p.Val206Ile) | dbSNP |
| 4 | g.119186021G>C | CA358201558 | MYOZ2 | c.616G>C (p.Val206Leu) | |
| 4 | g.119186021G= | CA1488821479 | MYOZ2 | c.616G= (p.Val206=) | |
| 4 | g.119186021G>T | CA358201559 | MYOZ2 | c.616G>T (p.Val206Phe) | |
| 4 | g.119186022T>A | CA358201561 | MYOZ2 | c.617T>A (p.Val206Asp) | |
| 4 | g.119186022T>C | CA358201563 | MYOZ2 | c.617T>C (p.Val206Ala) | |
| 4 | g.119186022T>G | CA358201566 | MYOZ2 | c.617T>G (p.Val206Gly) | gnomAD v4 |
| 4 | g.119186023T>A | CA441001942 | MYOZ2 | c.618T>A (p.Val206=) | |
| 4 | g.119186023T>C | CA441001939 | MYOZ2 | c.618T>C (p.Val206=) | |
| 4 | g.119186023T>G | CA441001943 | MYOZ2 | c.618T>G (p.Val206=) | |
| 4 | g.119186024C>A | CA358201569 | MYOZ2 | c.619C>A (p.Pro207Thr) | |
| 4 | g.119186024C>G | CA358201571 | MYOZ2 | c.619C>G (p.Pro207Ala) | |
| 4 | g.119186024C>T | CA358201573 | MYOZ2 | c.619C>T (p.Pro207Ser) | |
| 4 | g.119186025C>A | CA358201575 | MYOZ2 | c.620C>A (p.Pro207Gln) | |
| 4 | g.119186025C>G | CA358201577 | MYOZ2 | c.620C>G (p.Pro207Arg) | |
| 4 | g.119186025C>T | CA358201579 | MYOZ2 | c.620C>T (p.Pro207Leu) | |
| 4 | g.119186026A>C | CA441001950 | MYOZ2 | c.621A>C (p.Pro207=) | |
| 4 | g.119186026A>G | CA441001951 | MYOZ2 | c.621A>G (p.Pro207=) | |
| 4 | g.119186026A>T | CA441001952 | MYOZ2 | c.621A>T (p.Pro207=) | |
| 4 | g.119186027G>A | CA358201584 | MYOZ2 | c.622G>A (p.Asp208Asn) | |
| 4 | g.119186027G>C | CA104974204 | MYOZ2 | c.622G>C (p.Asp208His) | dbSNP |
| 4 | g.119186027G= | CA1488821480 | MYOZ2 | c.622G= (p.Asp208=) | |
| 4 | g.119186027G>T | CA358201581 | MYOZ2 | c.622G>T (p.Asp208Tyr) | |
| 4 | g.119186028A= | CA1488821481 | MYOZ2 | c.623A= (p.Asp208=) | |
| 4 | g.119186028A>C | CA358201586 | MYOZ2 | c.623A>C (p.Asp208Ala) | |
| 4 | g.119186028A>G | CA358201587 | MYOZ2 | c.623A>G (p.Asp208Gly) | dbSNP |
| 4 | g.119186028A>T | CA358201588 | MYOZ2 | c.623A>T (p.Asp208Val) | |
| 4 | g.119186029T>A | CA358201589 | MYOZ2 | c.624T>A (p.Asp208Glu) | |
| 4 | g.119186029T>C | CA441001963 | MYOZ2 | c.624T>C (p.Asp208=) | dbSNP gnomAD v2 |
| 4 | g.119186029T>G | CA358201591 | MYOZ2 | c.624T>G (p.Asp208Glu) | |
| 4 | g.119186029T= | CA1488821482 | MYOZ2 | c.624T= (p.Asp208=) | |
| 4 | g.119186030T>A | CA358201592 | MYOZ2 | c.625T>A (p.Phe209Ile) | |
| 4 | g.119186030T>C | CA358201594 | MYOZ2 | c.625T>C (p.Phe209Leu) | gnomAD v4 |
| 4 | g.119186030T>G | CA358201596 | MYOZ2 | c.625T>G (p.Phe209Val) | |
| 4 | g.119186031T>A | CA358201598 | MYOZ2 | c.626T>A (p.Phe209Tyr) | |
| 4 | g.119186031T>C | CA358201600 | MYOZ2 | c.626T>C (p.Phe209Ser) | |
| 4 | g.119186031T>G | CA358201601 | MYOZ2 | c.626T>G (p.Phe209Cys) | |
| 4 | g.119186032T>A | CA358201603 | MYOZ2 | c.627T>A (p.Phe209Leu) | |
| 4 | g.119186032T>C | CA441001976 | MYOZ2 | c.627T>C (p.Phe209=) | dbSNP |
| 4 | g.119186032T>G | CA358201605 | MYOZ2 | c.627T>G (p.Phe209Leu) | |
| 4 | g.119186032T= | CA1488821483 | MYOZ2 | c.627T= (p.Phe209=) | |
| 4 | g.119186033G>A | CA358201606 | MYOZ2 | c.628G>A (p.Glu210Lys) | |
| 4 | g.119186033G>C | CA358201610 | MYOZ2 | c.628G>C (p.Glu210Gln) | |
| 4 | g.119186033G>T | CA358201608 | MYOZ2 | c.628G>T (p.Glu210Ter) | |
| 4 | g.119186034A= | CA1488821484 | MYOZ2 | c.629A= (p.Glu210=) | |
| 4 | g.119186034A>C | CA358201611 | MYOZ2 | c.629A>C (p.Glu210Ala) | |
| 4 | g.119186034A>G | CA3058688 | MYOZ2 | c.629A>G (p.Glu210Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119186034A>T | CA358201613 | MYOZ2 | c.629A>T (p.Glu210Val) | |
| 4 | g.119186035G>A | CA441001992 | MYOZ2 | c.630G>A (p.Glu210=) | dbSNP |
| 4 | g.119186035G>C | CA358201616 | MYOZ2 | c.630G>C (p.Glu210Asp) | |
| 4 | g.119186035G= | CA1488821485 | MYOZ2 | c.630G= (p.Glu210=) | |
| 4 | g.119186035G>T | CA358201617 | MYOZ2 | c.630G>T (p.Glu210Asp) | |
| 4 | g.119186036C>A | CA358201620 | MYOZ2 | c.631C>A (p.Leu211Ile) | |
| 4 | g.119186036C>G | CA358201621 | MYOZ2 | c.631C>G (p.Leu211Val) | |
| 4 | g.119186036C>T | CA441001997 | MYOZ2 | c.631C>T (p.Leu211=) | gnomAD v4 |
| 4 | g.119186037T>A | CA358201622 | MYOZ2 | c.632T>A (p.Leu211Gln) | |
| 4 | g.119186037T>C | CA358201624 | MYOZ2 | c.632T>C (p.Leu211Pro) | |
| 4 | g.119186037T>G | CA358201626 | MYOZ2 | c.632T>G (p.Leu211Arg) | dbSNP |
| 4 | g.119186037T= | CA1488821486 | MYOZ2 | c.632T= (p.Leu211=) | |
| 4 | g.119186038A>C | CA441002008 | MYOZ2 | c.633A>C (p.Leu211=) | |
| 4 | g.119186038A>G | CA441002009 | MYOZ2 | c.633A>G (p.Leu211=) | gnomAD v4 |
| 4 | g.119186038A>T | CA441002011 | MYOZ2 | c.633A>T (p.Leu211=) | |
| 4 | g.119186039C>A | CA358201628 | MYOZ2 | c.634C>A (p.Leu212Ile) | |
| 4 | g.119186039C>G | CA358201630 | MYOZ2 | c.634C>G (p.Leu212Val) | |
| 4 | g.119186039C>T | CA441002014 | MYOZ2 | c.634C>T (p.Leu212=) | |
| 4 | g.119186040T>A | CA358201966 | MYOZ2 | c.635T>A (p.Leu212Gln) | |
| 4 | g.119186040T>C | CA358201969 | MYOZ2 | c.635T>C (p.Leu212Pro) | |
| 4 | g.119186040T>G | CA358201971 | MYOZ2 | c.635T>G (p.Leu212Arg) | |
| 4 | g.119186041A= | CA1488821487 | MYOZ2 | c.636A= (p.Leu212=) | |
| 4 | g.119186041A>C | CA441002552 | MYOZ2 | c.636A>C (p.Leu212=) | |
| 4 | g.119186041A>G | CA441002556 | MYOZ2 | c.636A>G (p.Leu212=) | dbSNP |
| 4 | g.119186041A>T | CA441002558 | MYOZ2 | c.636A>T (p.Leu212=) | |
| 4 | g.119186042T>A | CA358201973 | MYOZ2 | c.637T>A (p.Leu213Met) | |
| 4 | g.119186042T>C | CA441002561 | MYOZ2 | c.637T>C (p.Leu213=) | dbSNP gnomAD v4 |
| 4 | g.119186042T>G | CA358201974 | MYOZ2 | c.637T>G (p.Leu213Val) | |
| 4 | g.119186042T= | CA1488821488 | MYOZ2 | c.637T= (p.Leu213=) | |
| 4 | g.119186043T>A | CA358201978 | MYOZ2 | c.638T>A (p.Leu213Ter) | |
| 4 | g.119186043T>C | CA358201977 | MYOZ2 | c.638T>C (p.Leu213Ser) | |
| 4 | g.119186043T>G | CA358201975 | MYOZ2 | c.638T>G (p.Leu213Trp) | |
| 4 | g.119186044G>A | CA441002574 | MYOZ2 | c.639G>A (p.Leu213=) | gnomAD v4 |
| 4 | g.119186044G>C | CA358201981 | MYOZ2 | c.639G>C (p.Leu213Phe) | |
| 4 | g.119186044G>T | CA358201982 | MYOZ2 | c.639G>T (p.Leu213Phe) | |
| 4 | g.119186045C>A | CA358201983 | MYOZ2 | c.640C>A (p.Leu214Ile) | |
| 4 | g.119186045C>G | CA358201985 | MYOZ2 | c.640C>G (p.Leu214Val) | |
| 4 | g.119186045C>T | CA441002581 | MYOZ2 | c.640C>T (p.Leu214=) | |
| 4 | g.119186046T>A | CA358201991 | MYOZ2 | c.641T>A (p.Leu214Gln) | |
| 4 | g.119186046T>C | CA358201993 | MYOZ2 | c.641T>C (p.Leu214Pro) | |
| 4 | g.119186046T>G | CA358201994 | MYOZ2 | c.641T>G (p.Leu214Arg) | |
| 4 | g.119186047A>C | CA441002595 | MYOZ2 | c.642A>C (p.Leu214=) | |
| 4 | g.119186047A>G | CA441002592 | MYOZ2 | c.642A>G (p.Leu214=) | |
| 4 | g.119186047A>T | CA441002589 | MYOZ2 | c.642A>T (p.Leu214=) | |
| 4 | g.119186048A>C | CA358201996 | MYOZ2 | c.643A>C (p.Thr215Pro) | |
| 4 | g.119186048A>G | CA358201998 | MYOZ2 | c.643A>G (p.Thr215Ala) | |
| 4 | g.119186048A>T | CA358201999 | MYOZ2 | c.643A>T (p.Thr215Ser) | |
| 4 | g.119186049C>A | CA358202000 | MYOZ2 | c.644C>A (p.Thr215Lys) | |
| 4 | g.119186049C>G | CA358202002 | MYOZ2 | c.644C>G (p.Thr215Arg) | |
| 4 | g.119186049C>T | CA358202004 | MYOZ2 | c.644C>T (p.Thr215Ile) | gnomAD v4 COSMIC |
| 4 | g.119186050A= | CA1488821489 | MYOZ2 | c.645A= (p.Thr215=) | |
| 4 | g.119186050A>C | CA441002608 | MYOZ2 | c.645A>C (p.Thr215=) | |
| 4 | g.119186050A>G | CA441002620 | MYOZ2 | c.645A>G (p.Thr215=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119186050A>T | CA441002610 | MYOZ2 | c.645A>T (p.Thr215=) | |
| 4 | g.119186051G>A | CA358202008 | MYOZ2 | c.646G>A (p.Asp216Asn) | COSMIC |
| 4 | g.119186051G>C | CA358202010 | MYOZ2 | c.646G>C (p.Asp216His) | |
| 4 | g.119186051G>T | CA358202006 | MYOZ2 | c.646G>T (p.Asp216Tyr) | COSMIC |
| 4 | g.119186052A>C | CA358202012 | MYOZ2 | c.647A>C (p.Asp216Ala) | |
| 4 | g.119186052A>G | CA358202015 | MYOZ2 | c.647A>G (p.Asp216Gly) | |
| 4 | g.119186052A>T | CA358202017 | MYOZ2 | c.647A>T (p.Asp216Val) | gnomAD v4 |
| 4 | g.119186053T>A | CA358202019 | MYOZ2 | c.648T>A (p.Asp216Glu) | |
| 4 | g.119186053T>C | CA441002643 | MYOZ2 | c.648T>C (p.Asp216=) | |
| 4 | g.119186053T>G | CA358202021 | MYOZ2 | c.648T>G (p.Asp216Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119186053T= | CA1488821490 | MYOZ2 | c.648T= (p.Asp216=) | |
| 4 | g.119186054C>A | CA3058689 | MYOZ2 | c.649C>A (p.Pro217Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119186054C= | CA1488821491 | MYOZ2 | c.649C= (p.Pro217=) | |
| 4 | g.119186054C>G | CA358202024 | MYOZ2 | c.649C>G (p.Pro217Ala) | |
| 4 | g.119186054C>T | CA358202026 | MYOZ2 | c.649C>T (p.Pro217Ser) | |
| 4 | g.119186055C>A | CA358202029 | MYOZ2 | c.650C>A (p.Pro217His) | |
| 4 | g.119186055C= | CA1488821492 | MYOZ2 | c.650C= (p.Pro217=) | |
| 4 | g.119186055C>G | CA104974205 | MYOZ2 | c.650C>G (p.Pro217Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119186055C>T | CA358202031 | MYOZ2 | c.650C>T (p.Pro217Leu) | COSMIC |
| 4 | g.119186056C>A | CA441002649 | MYOZ2 | c.651C>A (p.Pro217=) | |
| 4 | g.119186056C>G | CA441002651 | MYOZ2 | c.651C>G (p.Pro217=) | |
| 4 | g.119186056C>T | CA441002652 | MYOZ2 | c.651C>T (p.Pro217=) | |
| 4 | g.119186057A>C | CA441002653 | MYOZ2 | c.652A>C (p.Arg218=) | |
| 4 | g.119186057A>G | CA358202033 | MYOZ2 | c.652A>G (p.Arg218Gly) | |
| 4 | g.119186057A>T | CA358202039 | MYOZ2 | c.652A>T (p.Arg218Trp) | |
| 4 | g.119186058G>A | CA358202042 | MYOZ2 | c.653G>A (p.Arg218Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119186058G>C | CA358202045 | MYOZ2 | c.653G>C (p.Arg218Thr) | |
| 4 | g.119186058G= | CA1488821493 | MYOZ2 | c.653G= (p.Arg218=) | |
| 4 | g.119186058G>T | CA358202044 | MYOZ2 | c.653G>T (p.Arg218Met) | |
| 4 | g.119186059G>A | CA441002663 | MYOZ2 | c.654G>A (p.Arg218=) | dbSNP gnomAD v2 |
| 4 | g.119186059G>C | CA358202047 | MYOZ2 | c.654G>C (p.Arg218Ser) | gnomAD v4 |
| 4 | g.119186059G= | CA1488821494 | MYOZ2 | c.654G= (p.Arg218=) | |
| 4 | g.119186059G>T | CA358202048 | MYOZ2 | c.654G>T (p.Arg218Ser) | ClinVar dbSNP |
| 4 | g.119186060T>A | CA358202050 | MYOZ2 | c.655T>A (p.Phe219Ile) | |
| 4 | g.119186060T>C | CA358202052 | MYOZ2 | c.655T>C (p.Phe219Leu) | |
| 4 | g.119186060T>G | CA104974206 | MYOZ2 | c.655T>G (p.Phe219Val) | dbSNP COSMIC |
| 4 | g.119186060T= | CA1488821495 | MYOZ2 | c.655T= (p.Phe219=) | |
| 4 | g.119186061T>A | CA358202055 | MYOZ2 | c.656T>A (p.Phe219Tyr) | |
| 4 | g.119186061T>C | CA358202056 | MYOZ2 | c.656T>C (p.Phe219Ser) | |
| 4 | g.119186061T>G | CA358202057 | MYOZ2 | c.656T>G (p.Phe219Cys) | |
| 4 | g.119186062T>A | CA358202060 | MYOZ2 | c.657T>A (p.Phe219Leu) | |
| 4 | g.119186062T>C | CA441002679 | MYOZ2 | c.657T>C (p.Phe219=) | ClinVar dbSNP |
| 4 | g.119186062T>G | CA358202062 | MYOZ2 | c.657T>G (p.Phe219Leu) | |
| 4 | g.119186062T= | CA1488821496 | MYOZ2 | c.657T= (p.Phe219=) | |
| 4 | g.119186063_119186066dup | CA2671884590 | MYOZ2 | c.658_661dup (p.Ser221TyrfsTer14) | gnomAD v4 |
| 4 | g.119186063A= | CA1488821497 | MYOZ2 | c.658A= (p.Met220=) | |
| 4 | g.119186063A>C | CA358202066 | MYOZ2 | c.658A>C (p.Met220Leu) | |
| 4 | g.119186063A>G | CA358202068 | MYOZ2 | c.658A>G (p.Met220Val) | |
| 4 | g.119186063A>T | CA358202064 | MYOZ2 | c.658A>T (p.Met220Leu) | dbSNP |
| 4 | g.119186064T>A | CA358202070 | MYOZ2 | c.659T>A (p.Met220Lys) | |
| 4 | g.119186064T>C | CA358202072 | MYOZ2 | c.659T>C (p.Met220Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119186064T>G | CA358202074 | MYOZ2 | c.659T>G (p.Met220Arg) | |
| 4 | g.119186064T= | CA1488821498 | MYOZ2 | c.659T= (p.Met220=) | |
| 4 | g.119186065G>A | CA358202076 | MYOZ2 | c.660G>A (p.Met220Ile) | gnomAD v4 |
| 4 | g.119186065G>C | CA358202078 | MYOZ2 | c.660G>C (p.Met220Ile) | |
| 4 | g.119186065G>T | CA358202079 | MYOZ2 | c.660G>T (p.Met220Ile) | |
| 4 | g.119186066T>A | CA358202081 | MYOZ2 | c.661T>A (p.Ser221Thr) | |
| 4 | g.119186066T>C | CA358202083 | MYOZ2 | c.661T>C (p.Ser221Pro) | |
| 4 | g.119186066T>G | CA358202085 | MYOZ2 | c.661T>G (p.Ser221Ala) | dbSNP |
| 4 | g.119186066T= | CA1488821499 | MYOZ2 | c.661T= (p.Ser221=) | |
| 4 | g.119186067C>A | CA358202087 | MYOZ2 | c.662C>A (p.Ser221Tyr) | |
| 4 | g.119186067C>G | CA358202089 | MYOZ2 | c.662C>G (p.Ser221Cys) | |
| 4 | g.119186067C>T | CA358202091 | MYOZ2 | c.662C>T (p.Ser221Phe) | COSMIC |
| 4 | g.119186068C>A | CA441002710 | MYOZ2 | c.663C>A (p.Ser221=) | |
| 4 | g.119186068C>G | CA441002717 | MYOZ2 | c.663C>G (p.Ser221=) | |
| 4 | g.119186068C>T | CA441002719 | MYOZ2 | c.663C>T (p.Ser221=) | |
| 4 | g.119186069T>A | CA358202095 | MYOZ2 | c.664T>A (p.Phe222Ile) | |
| 4 | g.119186069T>C | CA358202094 | MYOZ2 | c.664T>C (p.Phe222Leu) | |
| 4 | g.119186069T>G | CA358202092 | MYOZ2 | c.664T>G (p.Phe222Val) | |
| 4 | g.119186070T>A | CA358202098 | MYOZ2 | c.665T>A (p.Phe222Tyr) | |
| 4 | g.119186070T>C | CA358202100 | MYOZ2 | c.665T>C (p.Phe222Ser) | |
| 4 | g.119186070T>G | CA358202102 | MYOZ2 | c.665T>G (p.Phe222Cys) | |
| 4 | g.119186071T>A | CA237433 | MYOZ2 | c.666T>A (p.Phe222Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119186071T>C | CA441002737 | MYOZ2 | c.666T>C (p.Phe222=) | |
| 4 | g.119186071T>G | CA358202104 | MYOZ2 | c.666T>G (p.Phe222Leu) | |
| 4 | g.119186071T= | CA1488821500 | MYOZ2 | c.666T= (p.Phe222=) | |
| 4 | g.119186072G>A | CA358202107 | MYOZ2 | c.667G>A (p.Val223Ile) | |
| 4 | g.119186072G>C | CA358202108 | MYOZ2 | c.667G>C (p.Val223Leu) | |
| 4 | g.119186072G>T | CA358202110 | MYOZ2 | c.667G>T (p.Val223Phe) | |
| 4 | g.119186073T>A | CA358202112 | MYOZ2 | c.668T>A (p.Val223Asp) | |
| 4 | g.119186073T>C | CA358202114 | MYOZ2 | c.668T>C (p.Val223Ala) | dbSNP gnomAD v2 |
| 4 | g.119186073T>G | CA358202116 | MYOZ2 | c.668T>G (p.Val223Gly) | |
| 4 | g.119186073T= | CA1488821501 | MYOZ2 | c.668T= (p.Val223=) | |
| 4 | g.119186074C>A | CA441002751 | MYOZ2 | c.669C>A (p.Val223=) | |
| 4 | g.119186074C= | CA1488821502 | MYOZ2 | c.669C= (p.Val223=) | |
| 4 | g.119186074C>G | CA441002752 | MYOZ2 | c.669C>G (p.Val223=) | |
| 4 | g.119186074C>T | CA441002754 | MYOZ2 | c.669C>T (p.Val223=) | dbSNP COSMIC |
| 4 | g.119186075A>C | CA358202117 | MYOZ2 | c.670A>C (p.Asn224His) | |
| 4 | g.119186075A>G | CA358202118 | MYOZ2 | c.670A>G (p.Asn224Asp) | gnomAD v4 |
| 4 | g.119186075A>T | CA358202120 | MYOZ2 | c.670A>T (p.Asn224Tyr) | |
| 4 | g.119186076A>C | CA358202124 | MYOZ2 | c.671A>C (p.Asn224Thr) | |
| 4 | g.119186076A>G | CA358202125 | MYOZ2 | c.671A>G (p.Asn224Ser) | |
| 4 | g.119186076A>T | CA358202122 | MYOZ2 | c.671A>T (p.Asn224Ile) | |
| 4 | g.119186077T>A | CA358202128 | MYOZ2 | c.672T>A (p.Asn224Lys) | |
| 4 | g.119186077T>C | CA441002765 | MYOZ2 | c.672T>C (p.Asn224=) | |
| 4 | g.119186077T>G | CA358202129 | MYOZ2 | c.672T>G (p.Asn224Lys) | |
| 4 | g.119186078C>A | CA358202131 | MYOZ2 | c.673C>A (p.Pro225Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119186078C= | CA1488821503 | MYOZ2 | c.673C= (p.Pro225=) | |
| 4 | g.119186078C>G | CA358202132 | MYOZ2 | c.673C>G (p.Pro225Ala) | |
| 4 | g.119186078C>T | CA358202134 | MYOZ2 | c.673C>T (p.Pro225Ser) | gnomAD v4 COSMIC |
| 4 | g.119186079C>A | CA358202138 | MYOZ2 | c.674C>A (p.Pro225His) | |
| 4 | g.119186079C= | CA1488821504 | MYOZ2 | c.674C= (p.Pro225=) | |
| 4 | g.119186079C>G | CA358202136 | MYOZ2 | c.674C>G (p.Pro225Arg) | |
| 4 | g.119186079C>T | CA237436 | MYOZ2 | c.674C>T (p.Pro225Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.119186080C>A | CA441002781 | MYOZ2 | c.675C>A (p.Pro225=) | |
| 4 | g.119186080C= | CA1488821505 | MYOZ2 | c.675C= (p.Pro225=) | |
| 4 | g.119186080C>G | CA441002783 | MYOZ2 | c.675C>G (p.Pro225=) | |
| 4 | g.119186080C>T | CA441002791 | MYOZ2 | c.675C>T (p.Pro225=) | dbSNP |
| 4 | g.119186081C>A | CA358202140 | MYOZ2 | c.676C>A (p.Leu226Ile) | |
| 4 | g.119186081C>G | CA358202142 | MYOZ2 | c.676C>G (p.Leu226Val) | COSMIC |
| 4 | g.119186081C>T | CA358202143 | MYOZ2 | c.676C>T (p.Leu226Phe) | dbSNP gnomAD v4 COSMIC |
| 4 | g.119186082T>A | CA358202145 | MYOZ2 | c.677T>A (p.Leu226His) | |
| 4 | g.119186082T>C | CA358202147 | MYOZ2 | c.677T>C (p.Leu226Pro) | dbSNP |
| 4 | g.119186082T>G | CA358202149 | MYOZ2 | c.677T>G (p.Leu226Arg) | |
| 4 | g.119186082T= | CA1488821506 | MYOZ2 | c.677T= (p.Leu226=) | |
| 4 | g.119186083T>A | CA441002804 | MYOZ2 | c.678T>A (p.Leu226=) | |
| 4 | g.119186083T>C | CA441002807 | MYOZ2 | c.678T>C (p.Leu226=) | |
| 4 | g.119186083T>G | CA441002810 | MYOZ2 | c.678T>G (p.Leu226=) |