| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.119164317G>A | CA441009775 | MYOZ2 | c.483G>A (p.Glu161=) | gnomAD v4 |
| 4 | g.119164317G>C | CA358204301 | MYOZ2 | c.483G>C (p.Glu161Asp) | |
| 4 | g.119164317G>T | CA358204302 | MYOZ2 | c.483G>T (p.Glu161Asp) | |
| 4 | g.119164318C>A | CA358204303 | MYOZ2 | c.484C>A (p.Leu162Ile) | gnomAD v4 |
| 4 | g.119164318C>G | CA358204305 | MYOZ2 | c.484C>G (p.Leu162Val) | |
| 4 | g.119164318C>T | CA358204304 | MYOZ2 | c.484C>T (p.Leu162Phe) | COSMIC |
| 4 | g.119164319T>A | CA358204306 | MYOZ2 | c.485T>A (p.Leu162His) | |
| 4 | g.119164319T>C | CA358204308 | MYOZ2 | c.485T>C (p.Leu162Pro) | |
| 4 | g.119164319T>G | CA358204307 | MYOZ2 | c.485T>G (p.Leu162Arg) | |
| 4 | g.119164320T>A | CA441009776 | MYOZ2 | c.486T>A (p.Leu162=) | |
| 4 | g.119164320T>C | CA441009777 | MYOZ2 | c.486T>C (p.Leu162=) | |
| 4 | g.119164320T>G | CA441009778 | MYOZ2 | c.486T>G (p.Leu162=) | |
| 4 | g.119164321T>A | CA358204309 | MYOZ2 | c.487T>A (p.Leu163Ile) | |
| 4 | g.119164321T>C | CA441009779 | MYOZ2 | c.487T>C (p.Leu163=) | |
| 4 | g.119164321T>G | CA358204310 | MYOZ2 | c.487T>G (p.Leu163Val) | |
| 4 | g.119164322T>A | CA358204311 | MYOZ2 | c.488T>A (p.Leu163Ter) | |
| 4 | g.119164322T>C | CA282614 | MYOZ2 | c.488T>C (p.Leu163Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164322T>G | CA358204312 | MYOZ2 | c.488T>G (p.Leu163Ter) | gnomAD v4 |
| 4 | g.119164322T= | CA1488811896 | MYOZ2 | c.488T= (p.Leu163=) | |
| 4 | g.119164323A= | CA1488811897 | MYOZ2 | c.489A= (p.Leu163=) | |
| 4 | g.119164323A>C | CA358204313 | MYOZ2 | c.489A>C (p.Leu163Phe) | |
| 4 | g.119164323A>G | CA441009780 | MYOZ2 | c.489A>G (p.Leu163=) | dbSNP |
| 4 | g.119164323A>T | CA358204314 | MYOZ2 | c.489A>T (p.Leu163Phe) | |
| 4 | g.119164324G>A | CA3058650 | MYOZ2 | c.490G>A (p.Glu164Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164324G>C | CA358204315 | MYOZ2 | c.490G>C (p.Glu164Gln) | gnomAD v4 |
| 4 | g.119164324G= | CA1488811898 | MYOZ2 | c.490G= (p.Glu164=) | |
| 4 | g.119164324G>T | CA358204316 | MYOZ2 | c.490G>T (p.Glu164Ter) | |
| 4 | g.119164325A>C | CA358204317 | MYOZ2 | c.491A>C (p.Glu164Ala) | |
| 4 | g.119164325A>G | CA358204318 | MYOZ2 | c.491A>G (p.Glu164Gly) | |
| 4 | g.119164325A>T | CA358204319 | MYOZ2 | c.491A>T (p.Glu164Val) | |
| 4 | g.119164326G>A | CA3058651 | MYOZ2 | c.492G>A (p.Glu164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164326G>C | CA358204321 | MYOZ2 | c.492G>C (p.Glu164Asp) | |
| 4 | g.119164326G= | CA1488811899 | MYOZ2 | c.492G= (p.Glu164=) | |
| 4 | g.119164326G>T | CA358204320 | MYOZ2 | c.492G>T (p.Glu164Asp) | |
| 4 | g.119164327G>A | CA358204322 | MYOZ2 | c.493G>A (p.Ala165Thr) | |
| 4 | g.119164327G>C | CA358204323 | MYOZ2 | c.493G>C (p.Ala165Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164327G= | CA1488811900 | MYOZ2 | c.493G= (p.Ala165=) | |
| 4 | g.119164327G>T | CA358204324 | MYOZ2 | c.493G>T (p.Ala165Ser) | |
| 4 | g.119164328C>A | CA358204325 | MYOZ2 | c.494C>A (p.Ala165Asp) | gnomAD v4 |
| 4 | g.119164328C>G | CA358204326 | MYOZ2 | c.494C>G (p.Ala165Gly) | |
| 4 | g.119164328C>T | CA358204327 | MYOZ2 | c.494C>T (p.Ala165Val) | ClinVar dbSNP gnomAD v4 |
| 4 | g.119164328_119164329delinsCT | CA1488811901 | MYOZ2 | c.494_495delinsCT (p.Ala165=) | |
| 4 | g.119164329T>A | CA441009781 | MYOZ2 | c.495T>A (p.Ala165=) | |
| 4 | g.119164329T>C | CA441009782 | MYOZ2 | c.495T>C (p.Ala165=) | |
| 4 | g.119164329T>G | CA441009783 | MYOZ2 | c.495T>G (p.Ala165=) | |
| 4 | g.119164331del | CA3058652 | MYOZ2 | c.497del (p.Leu166TyrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164330T>A | CA358204328 | MYOZ2 | c.496T>A (p.Leu166Ile) | |
| 4 | g.119164330T>C | CA441009784 | MYOZ2 | c.496T>C (p.Leu166=) | |
| 4 | g.119164330T>G | CA358204329 | MYOZ2 | c.496T>G (p.Leu166Val) | |
| 4 | g.119164331T>A | CA358204330 | MYOZ2 | c.497T>A (p.Leu166Ter) | |
| 4 | g.119164331T>C | CA358204331 | MYOZ2 | c.497T>C (p.Leu166Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164331T>G | CA358204332 | MYOZ2 | c.497T>G (p.Leu166Ter) | |
| 4 | g.119164331T= | CA1488811902 | MYOZ2 | c.497T= (p.Leu166=) | |
| 4 | g.119164332A>C | CA358204334 | MYOZ2 | c.498A>C (p.Leu166Phe) | |
| 4 | g.119164332A>G | CA441009785 | MYOZ2 | c.498A>G (p.Leu166=) | gnomAD v4 |
| 4 | g.119164332A>T | CA358204333 | MYOZ2 | c.498A>T (p.Leu166Phe) | |
| 4 | g.119164332_119164335delinsATAT | CA1488811903 | MYOZ2 | c.498_501delinsATAT (p.Leu166=) | |
| 4 | g.119164333T>A | CA358204335 | MYOZ2 | c.499T>A (p.Tyr167Asn) | |
| 4 | g.119164333T>C | CA358204336 | MYOZ2 | c.499T>C (p.Tyr167His) | |
| 4 | g.119164333T>G | CA358204337 | MYOZ2 | c.499T>G (p.Tyr167Asp) | |
| 4 | g.119164333T= | CA1488811904 | MYOZ2 | c.499T= (p.Tyr167=) | |
| 4 | g.119164333_119164335delinsAACTTTTCAAG | CA916081458 | MYOZ2 | c.499_501delinsAACTTTTCAAG (p.Tyr167AsnfsTer?) | ClinVar dbSNP |
| 4 | g.119164334A>C | CA358204338 | MYOZ2 | c.500A>C (p.Tyr167Ser) | |
| 4 | g.119164334A>G | CA358204339 | MYOZ2 | c.500A>G (p.Tyr167Cys) | |
| 4 | g.119164334A>T | CA358204340 | MYOZ2 | c.500A>T (p.Tyr167Phe) | |
| 4 | g.119164334dup | CA3058653 | MYOZ2 | c.500dup (p.Tyr167Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164335T>A | CA358204341 | MYOZ2 | c.501T>A (p.Tyr167Ter) | |
| 4 | g.119164335T>C | CA441009786 | MYOZ2 | c.501T>C (p.Tyr167=) | |
| 4 | g.119164335T>G | CA358204342 | MYOZ2 | c.501T>G (p.Tyr167Ter) | |
| 4 | g.119164336C>A | CA358204343 | MYOZ2 | c.502C>A (p.Pro168Thr) | |
| 4 | g.119164336C>G | CA358204344 | MYOZ2 | c.502C>G (p.Pro168Ala) | gnomAD v4 |
| 4 | g.119164336C>T | CA358204345 | MYOZ2 | c.502C>T (p.Pro168Ser) | COSMIC |
| 4 | g.119164337C>A | CA358204348 | MYOZ2 | c.503C>A (p.Pro168His) | |
| 4 | g.119164337C>G | CA358204347 | MYOZ2 | c.503C>G (p.Pro168Arg) | |
| 4 | g.119164337C>T | CA358204346 | MYOZ2 | c.503C>T (p.Pro168Leu) | |
| 4 | g.119164338T>A | CA441009787 | MYOZ2 | c.504T>A (p.Pro168=) | |
| 4 | g.119164338T>C | CA3058654 | MYOZ2 | c.504T>C (p.Pro168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164338T>G | CA441009788 | MYOZ2 | c.504T>G (p.Pro168=) | |
| 4 | g.119164338T= | CA1488811905 | MYOZ2 | c.504T= (p.Pro168=) | |
| 4 | g.119164339A>C | CA16609625 | MYOZ2 | c.505A>C (p.Lys169Gln) | |
| 4 | g.119164339A>G | CA358204349 | MYOZ2 | c.505A>G (p.Lys169Glu) | dbSNP |
| 4 | g.119164339A>T | CA358204350 | MYOZ2 | c.505A>T (p.Lys169Ter) | |
| 4 | g.119164340A>C | CA358204351 | MYOZ2 | c.506A>C (p.Lys169Thr) | |
| 4 | g.119164340A>G | CA358204352 | MYOZ2 | c.506A>G (p.Lys169Arg) | |
| 4 | g.119164340A>T | CA358204353 | MYOZ2 | c.506A>T (p.Lys169Ile) | |
| 4 | g.119164341A= | CA1488811906 | MYOZ2 | c.507A= (p.Lys169=) | |
| 4 | g.119164341A>C | CA358204354 | MYOZ2 | c.507A>C (p.Lys169Asn) | |
| 4 | g.119164341A>G | CA441009789 | MYOZ2 | c.507A>G (p.Lys169=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164341A>T | CA358204355 | MYOZ2 | c.507A>T (p.Lys169Asn) | |
| 4 | g.119164342C>A | CA358204356 | MYOZ2 | c.508C>A (p.Leu170Ile) | |
| 4 | g.119164342C= | CA1488811907 | MYOZ2 | c.508C= (p.Leu170=) | |
| 4 | g.119164342C>G | CA358204357 | MYOZ2 | c.508C>G (p.Leu170Val) | |
| 4 | g.119164342C>T | CA358204358 | MYOZ2 | c.508C>T (p.Leu170Phe) | ClinVar dbSNP gnomAD v4 |
| 4 | g.119164343T>A | CA3058655 | MYOZ2 | c.509T>A (p.Leu170His) | dbSNP ExAC gnomAD v2 |
| 4 | g.119164343T>C | CA358204360 | MYOZ2 | c.509T>C (p.Leu170Pro) | |
| 4 | g.119164343T>G | CA358204359 | MYOZ2 | c.509T>G (p.Leu170Arg) | |
| 4 | g.119164343T= | CA1488811908 | MYOZ2 | c.509T= (p.Leu170=) | |
| 4 | g.119164344T>A | CA441009792 | MYOZ2 | c.510T>A (p.Leu170=) | |
| 4 | g.119164344T>C | CA441009790 | MYOZ2 | c.510T>C (p.Leu170=) | |
| 4 | g.119164344T>G | CA441009791 | MYOZ2 | c.510T>G (p.Leu170=) | |
| 4 | g.119164345T>A | CA358204361 | MYOZ2 | c.511T>A (p.Phe171Ile) | |
| 4 | g.119164345T>C | CA358204363 | MYOZ2 | c.511T>C (p.Phe171Leu) | |
| 4 | g.119164345T>G | CA358204362 | MYOZ2 | c.511T>G (p.Phe171Val) | |
| 4 | g.119164346T>A | CA358204364 | MYOZ2 | c.512T>A (p.Phe171Tyr) | |
| 4 | g.119164346T>C | CA358204365 | MYOZ2 | c.512T>C (p.Phe171Ser) | |
| 4 | g.119164346T>G | CA358204366 | MYOZ2 | c.512T>G (p.Phe171Cys) | |
| 4 | g.119164347C>A | CA358204367 | MYOZ2 | c.513C>A (p.Phe171Leu) | |
| 4 | g.119164347C>G | CA358204368 | MYOZ2 | c.513C>G (p.Phe171Leu) | |
| 4 | g.119164347C>T | CA441009793 | MYOZ2 | c.513C>T (p.Phe171=) | |
| 4 | g.119164348A>C | CA358204369 | MYOZ2 | c.514A>C (p.Lys172Gln) | |
| 4 | g.119164348A>G | CA358204370 | MYOZ2 | c.514A>G (p.Lys172Glu) | |
| 4 | g.119164348A>T | CA358204371 | MYOZ2 | c.514A>T (p.Lys172Ter) | |
| 4 | g.119164349A>C | CA358204372 | MYOZ2 | c.515A>C (p.Lys172Thr) | |
| 4 | g.119164349A>G | CA358204373 | MYOZ2 | c.515A>G (p.Lys172Arg) | |
| 4 | g.119164349A>T | CA358204374 | MYOZ2 | c.515A>T (p.Lys172Met) | |
| 4 | g.119164350G>A | CA441009794 | MYOZ2 | c.516G>A (p.Lys172=) | |
| 4 | g.119164350G>C | CA358204375 | MYOZ2 | c.516G>C (p.Lys172Asn) | |
| 4 | g.119164350G>T | CA358204376 | MYOZ2 | c.516G>T (p.Lys172Asn) | |
| 4 | g.119164351C>A | CA358204377 | MYOZ2 | c.517C>A (p.Pro173Thr) | ClinVar dbSNP |
| 4 | g.119164351C>G | CA358204379 | MYOZ2 | c.517C>G (p.Pro173Ala) | |
| 4 | g.119164351C>T | CA358204378 | MYOZ2 | c.517C>T (p.Pro173Ser) | |
| 4 | g.119164352C>A | CA358204380 | MYOZ2 | c.518C>A (p.Pro173His) | |
| 4 | g.119164352C= | CA1488811909 | MYOZ2 | c.518C= (p.Pro173=) | |
| 4 | g.119164352C>G | CA358204381 | MYOZ2 | c.518C>G (p.Pro173Arg) | |
| 4 | g.119164352C>T | CA358204382 | MYOZ2 | c.518C>T (p.Pro173Leu) | dbSNP |
| 4 | g.119164352_119164358delinsCTGAAGG | CA1488811910 | MYOZ2 | c.518_524delinsCTGAAGG (p.Pro173=) | |
| 4 | g.119164353T>A | CA441009795 | MYOZ2 | c.519T>A (p.Pro173=) | gnomAD v4 |
| 4 | g.119164353T>C | CA3058656 | MYOZ2 | c.519T>C (p.Pro173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164353T>G | CA441009796 | MYOZ2 | c.519T>G (p.Pro173=) | |
| 4 | g.119164353T= | CA1488811912 | MYOZ2 | c.519T= (p.Pro173=) | |
| 4 | g.119164353_119164358del | CA1488811911 | MYOZ2 | c.519_524del (p.Glu174_Gly175del) | dbSNP |
| 4 | g.119164354G>A | CA358204383 | MYOZ2 | c.520G>A (p.Glu174Lys) | |
| 4 | g.119164354G>C | CA358204384 | MYOZ2 | c.520G>C (p.Glu174Gln) | |
| 4 | g.119164354G>T | CA358204385 | MYOZ2 | c.520G>T (p.Glu174Ter) | gnomAD v4 |
| 4 | g.119164355A>C | CA358204386 | MYOZ2 | c.521A>C (p.Glu174Ala) | |
| 4 | g.119164355A>G | CA358204387 | MYOZ2 | c.521A>G (p.Glu174Gly) | |
| 4 | g.119164355A>T | CA358204388 | MYOZ2 | c.521A>T (p.Glu174Val) | |
| 4 | g.119164356A>C | CA358204389 | MYOZ2 | c.522A>C (p.Glu174Asp) | |
| 4 | g.119164356A>G | CA441009797 | MYOZ2 | c.522A>G (p.Glu174=) | |
| 4 | g.119164356A>T | CA358204390 | MYOZ2 | c.522A>T (p.Glu174Asp) | |
| 4 | g.119164357G>A | CA3058657 | MYOZ2 | c.523G>A (p.Gly175Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164357G>C | CA358204391 | MYOZ2 | c.523G>C (p.Gly175Arg) | |
| 4 | g.119164357G= | CA1488811913 | MYOZ2 | c.523G= (p.Gly175=) | |
| 4 | g.119164357G>T | CA358204392 | MYOZ2 | c.523G>T (p.Gly175Ter) | |
| 4 | g.119164358G>A | CA358204393 | MYOZ2 | c.524G>A (p.Gly175Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164358G>C | CA358204394 | MYOZ2 | c.524G>C (p.Gly175Ala) | |
| 4 | g.119164358G= | CA1488811914 | MYOZ2 | c.524G= (p.Gly175=) | |
| 4 | g.119164358G>T | CA358204395 | MYOZ2 | c.524G>T (p.Gly175Val) | |
| 4 | g.119164359A>C | CA441009798 | MYOZ2 | c.525A>C (p.Gly175=) | |
| 4 | g.119164359A>G | CA441009799 | MYOZ2 | c.525A>G (p.Gly175=) | |
| 4 | g.119164359A>T | CA441009800 | MYOZ2 | c.525A>T (p.Gly175=) | |
| 4 | g.119164360A>C | CA358204398 | MYOZ2 | c.526A>C (p.Lys176Gln) | |
| 4 | g.119164360A>G | CA358204396 | MYOZ2 | c.526A>G (p.Lys176Glu) | |
| 4 | g.119164360A>T | CA358204397 | MYOZ2 | c.526A>T (p.Lys176Ter) | |
| 4 | g.119164361A= | CA1488811915 | MYOZ2 | c.527A= (p.Lys176=) | |
| 4 | g.119164361A>C | CA3058658 | MYOZ2 | c.527A>C (p.Lys176Thr) | dbSNP ExAC gnomAD v2 |
| 4 | g.119164361A>G | CA358204399 | MYOZ2 | c.527A>G (p.Lys176Arg) | |
| 4 | g.119164361A>T | CA358204400 | MYOZ2 | c.527A>T (p.Lys176Met) | COSMIC |
| 4 | g.119164362G>A | CA441009801 | MYOZ2 | c.528G>A (p.Lys176=) | |
| 4 | g.119164362G>C | CA358204401 | MYOZ2 | c.528G>C (p.Lys176Asn) | |
| 4 | g.119164362G>T | CA358204402 | MYOZ2 | c.528G>T (p.Lys176Asn) | gnomAD v4 |
| 4 | g.119164363G>A | CA358204403 | MYOZ2 | c.529G>A (p.Ala177Thr) | |
| 4 | g.119164363G>C | CA358204405 | MYOZ2 | c.529G>C (p.Ala177Pro) | |
| 4 | g.119164363G>T | CA358204404 | MYOZ2 | c.529G>T (p.Ala177Ser) | |
| 4 | g.119164364C>A | CA358204406 | MYOZ2 | c.530C>A (p.Ala177Glu) | |
| 4 | g.119164364C>G | CA358204407 | MYOZ2 | c.530C>G (p.Ala177Gly) | |
| 4 | g.119164364C>T | CA358204408 | MYOZ2 | c.530C>T (p.Ala177Val) | |
| 4 | g.119164365A= | CA1488811916 | MYOZ2 | c.531A= (p.Ala177=) | |
| 4 | g.119164365A>C | CA441009803 | MYOZ2 | c.531A>C (p.Ala177=) | |
| 4 | g.119164365A>G | CA441009804 | MYOZ2 | c.531A>G (p.Ala177=) | dbSNP |
| 4 | g.119164365A>T | CA441009805 | MYOZ2 | c.531A>T (p.Ala177=) | |
| 4 | g.119164366G>A | CA358204409 | MYOZ2 | c.532G>A (p.Glu178Lys) | |
| 4 | g.119164366G>C | CA358204410 | MYOZ2 | c.532G>C (p.Glu178Gln) | dbSNP gnomAD v4 COSMIC |
| 4 | g.119164366G= | CA1488811917 | MYOZ2 | c.532G= (p.Glu178=) | |
| 4 | g.119164366G>T | CA358204411 | MYOZ2 | c.532G>T (p.Glu178Ter) | |
| 4 | g.119164367A>C | CA358204412 | MYOZ2 | c.533A>C (p.Glu178Ala) | |
| 4 | g.119164367A>G | CA358204413 | MYOZ2 | c.533A>G (p.Glu178Gly) | |
| 4 | g.119164367A>T | CA358204414 | MYOZ2 | c.533A>T (p.Glu178Val) | |
| 4 | g.119164368A>C | CA358204415 | MYOZ2 | c.534A>C (p.Glu178Asp) | |
| 4 | g.119164368A>G | CA441009808 | MYOZ2 | c.534A>G (p.Glu178=) | |
| 4 | g.119164368A>T | CA358204416 | MYOZ2 | c.534A>T (p.Glu178Asp) | |
| 4 | g.119164369C>A | CA358204417 | MYOZ2 | c.535C>A (p.Leu179Met) | |
| 4 | g.119164369C= | CA1488811918 | MYOZ2 | c.535C= (p.Leu179=) | |
| 4 | g.119164369C>G | CA358204418 | MYOZ2 | c.535C>G (p.Leu179Val) | dbSNP |
| 4 | g.119164369C>T | CA441009812 | MYOZ2 | c.535C>T (p.Leu179=) | gnomAD v4 |
| 4 | g.119164370T>A | CA358204419 | MYOZ2 | c.536T>A (p.Leu179Gln) | |
| 4 | g.119164370T>C | CA358204421 | MYOZ2 | c.536T>C (p.Leu179Pro) | |
| 4 | g.119164370T>G | CA358204420 | MYOZ2 | c.536T>G (p.Leu179Arg) | |
| 4 | g.119164371G>A | CA441009819 | MYOZ2 | c.537G>A (p.Leu179=) | dbSNP gnomAD v4 |
| 4 | g.119164371G>C | CA441009821 | MYOZ2 | c.537G>C (p.Leu179=) | gnomAD v4 |
| 4 | g.119164371G= | CA1488811919 | MYOZ2 | c.537G= (p.Leu179=) | |
| 4 | g.119164371G>T | CA441009822 | MYOZ2 | c.537G>T (p.Leu179=) | |
| 4 | g.119164372C>A | CA358204422 | MYOZ2 | c.538C>A (p.Pro180Thr) | |
| 4 | g.119164372C= | CA1488811920 | MYOZ2 | c.538C= (p.Pro180=) | |
| 4 | g.119164372C>G | CA358204423 | MYOZ2 | c.538C>G (p.Pro180Ala) | |
| 4 | g.119164372C>T | CA104971830 | MYOZ2 | c.538C>T (p.Pro180Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164373C>A | CA358204424 | MYOZ2 | c.539C>A (p.Pro180His) | |
| 4 | g.119164373C>G | CA358204426 | MYOZ2 | c.539C>G (p.Pro180Arg) | gnomAD v4 |
| 4 | g.119164373C>T | CA358204425 | MYOZ2 | c.539C>T (p.Pro180Leu) | |
| 4 | g.119164374T>A | CA441009827 | MYOZ2 | c.540T>A (p.Pro180=) | dbSNP gnomAD v4 |
| 4 | g.119164374T>C | CA3058659 | MYOZ2 | c.540T>C (p.Pro180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164374T>G | CA441009828 | MYOZ2 | c.540T>G (p.Pro180=) | |
| 4 | g.119164374T= | CA1488811921 | MYOZ2 | c.540T= (p.Pro180=) | |
| 4 | g.119164375G>A | CA358204427 | MYOZ2 | c.541G>A (p.Asp181Asn) | gnomAD v4 |
| 4 | g.119164375G>C | CA358204428 | MYOZ2 | c.541G>C (p.Asp181His) | |
| 4 | g.119164375G>T | CA358204429 | MYOZ2 | c.541G>T (p.Asp181Tyr) | gnomAD v4 |
| 4 | g.119164376A>C | CA358204430 | MYOZ2 | c.542A>C (p.Asp181Ala) | |
| 4 | g.119164376A>G | CA358204431 | MYOZ2 | c.542A>G (p.Asp181Gly) | |
| 4 | g.119164376A>T | CA358204432 | MYOZ2 | c.542A>T (p.Asp181Val) | |
| 4 | g.119164377_119164390dup | CA2671884436 | MYOZ2 | c.543_556dup (p.Asn186IlefsTer34) c.543_556dup (p.Asn186IlefsTer17) | gnomAD v4 |
| 4 | g.119164377T>A | CA358204433 | MYOZ2 | c.543T>A (p.Asp181Glu) | |
| 4 | g.119164377T>C | CA3058660 | MYOZ2 | c.543T>C (p.Asp181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164377T>G | CA358204434 | MYOZ2 | c.543T>G (p.Asp181Glu) | |
| 4 | g.119164377T= | CA1488811922 | MYOZ2 | c.543T= (p.Asp181=) | |
| 4 | g.119164378T>A | CA358204435 | MYOZ2 | c.544T>A (p.Tyr182Asn) | |
| 4 | g.119164378T>C | CA3058661 | MYOZ2 | c.544T>C (p.Tyr182His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164378T>G | CA358204436 | MYOZ2 | c.544T>G (p.Tyr182Asp) | |
| 4 | g.119164378T= | CA1488811923 | MYOZ2 | c.544T= (p.Tyr182=) | |
| 4 | g.119164379A>C | CA358204437 | MYOZ2 | c.545A>C (p.Tyr182Ser) | |
| 4 | g.119164379A>G | CA358204439 | MYOZ2 | c.545A>G (p.Tyr182Cys) | COSMIC |
| 4 | g.119164379A>T | CA358204438 | MYOZ2 | c.545A>T (p.Tyr182Phe) | |
| 4 | g.119164380C>A | CA358204440 | MYOZ2 | c.546C>A (p.Tyr182Ter) | |
| 4 | g.119164380C= | CA1488811924 | MYOZ2 | c.546C= (p.Tyr182=) | |
| 4 | g.119164380C>G | CA358204441 | MYOZ2 | c.546C>G (p.Tyr182Ter) | |
| 4 | g.119164380C>T | CA441009850 | MYOZ2 | c.546C>T (p.Tyr182=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164381A= | CA1488811925 | MYOZ2 | c.547A= (p.Arg183=) | |
| 4 | g.119164381A>C | CA441009852 | MYOZ2 | c.547A>C (p.Arg183=) | |
| 4 | g.119164381A>G | CA358204442 | MYOZ2 | c.547A>G (p.Arg183Gly) | ClinVar dbSNP |
| 4 | g.119164381A>T | CA358204443 | MYOZ2 | c.547A>T (p.Arg183Trp) | |
| 4 | g.119164382G>A | CA358204444 | MYOZ2 | c.548G>A (p.Arg183Lys) | gnomAD v4 |
| 4 | g.119164382G>C | CA358204445 | MYOZ2 | c.548G>C (p.Arg183Thr) | |
| 4 | g.119164382G>T | CA358204446 | MYOZ2 | c.548G>T (p.Arg183Met) | |
| 4 | g.119164383G>A | CA441009858 | MYOZ2 | c.549G>A (p.Arg183=) | |
| 4 | g.119164383G>C | CA358204447 | MYOZ2 | c.549G>C (p.Arg183Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164383G= | CA1488811926 | MYOZ2 | c.549G= (p.Arg183=) | |
| 4 | g.119164383G>T | CA358204448 | MYOZ2 | c.549G>T (p.Arg183Ser) | |
| 4 | g.119164384A= | CA1488811927 | MYOZ2 | c.550A= (p.Ser184=) | |
| 4 | g.119164384A>C | CA358204451 | MYOZ2 | c.550A>C (p.Ser184Arg) | dbSNP |
| 4 | g.119164384A>G | CA358204450 | MYOZ2 | c.550A>G (p.Ser184Gly) | |
| 4 | g.119164384A>T | CA358204449 | MYOZ2 | c.550A>T (p.Ser184Cys) | |
| 4 | g.119164385G>A | CA358204452 | MYOZ2 | c.551G>A (p.Ser184Asn) | gnomAD v4 |
| 4 | g.119164385G>C | CA358204453 | MYOZ2 | c.551G>C (p.Ser184Thr) | |
| 4 | g.119164385G>T | CA358204454 | MYOZ2 | c.551G>T (p.Ser184Ile) | gnomAD v4 |
| 4 | g.119164386C>A | CA358204455 | MYOZ2 | c.552C>A (p.Ser184Arg) | gnomAD v4 |
| 4 | g.119164386C= | CA1488811928 | MYOZ2 | c.552C= (p.Ser184=) | |
| 4 | g.119164386C>G | CA358204456 | MYOZ2 | c.552C>G (p.Ser184Arg) | |
| 4 | g.119164386C>T | CA441009872 | MYOZ2 | c.552C>T (p.Ser184=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164387T>A | CA358204457 | MYOZ2 | c.553T>A (p.Phe185Ile) | |
| 4 | g.119164387T>C | CA358204458 | MYOZ2 | c.553T>C (p.Phe185Leu) | |
| 4 | g.119164387T>G | CA358204459 | MYOZ2 | c.553T>G (p.Phe185Val) | |
| 4 | g.119164388T>A | CA358204460 | MYOZ2 | c.554T>A (p.Phe185Tyr) | |
| 4 | g.119164388T>C | CA358204461 | MYOZ2 | c.554T>C (p.Phe185Ser) | |
| 4 | g.119164388T>G | CA358204462 | MYOZ2 | c.554T>G (p.Phe185Cys) | |
| 4 | g.119164389T>A | CA358204463 | MYOZ2 | c.555T>A (p.Phe185Leu) | |
| 4 | g.119164389T>C | CA441009882 | MYOZ2 | c.555T>C (p.Phe185=) | |
| 4 | g.119164389T>G | CA358204464 | MYOZ2 | c.555T>G (p.Phe185Leu) | |
| 4 | g.119164390A>C | CA358204465 | MYOZ2 | c.556A>C (p.Asn186His) | |
| 4 | g.119164390A>G | CA358204467 | MYOZ2 | c.556A>G (p.Asn186Asp) | |
| 4 | g.119164390A>T | CA358204466 | MYOZ2 | c.556A>T (p.Asn186Tyr) | |
| 4 | g.119164391A>C | CA358204468 | MYOZ2 | c.557A>C (p.Asn186Thr) | |
| 4 | g.119164391A>G | CA358204469 | MYOZ2 | c.557A>G (p.Asn186Ser) | |
| 4 | g.119164391A>T | CA358204470 | MYOZ2 | c.557A>T (p.Asn186Ile) | |
| 4 | g.119164392C>A | CA358204471 | MYOZ2 | c.558C>A (p.Asn186Lys) | gnomAD v4 |
| 4 | g.119164392C>G | CA358204472 | MYOZ2 | c.558C>G (p.Asn186Lys) | COSMIC |
| 4 | g.119164392C>T | CA441009893 | MYOZ2 | c.558C>T (p.Asn186=) | gnomAD v4 |
| 4 | g.119164393A>C | CA441009895 | MYOZ2 | c.559A>C (p.Arg187=) | |
| 4 | g.119164393A>G | CA358204473 | MYOZ2 | c.559A>G (p.Arg187Gly) | gnomAD v4 |
| 4 | g.119164393A>T | CA358204474 | MYOZ2 | c.559A>T (p.Arg187Trp) | |
| 4 | g.119164394G>A | CA358204475 | MYOZ2 | c.560G>A (p.Arg187Lys) | |
| 4 | g.119164394G>C | CA358204476 | MYOZ2 | c.560G>C (p.Arg187Thr) | |
| 4 | g.119164394G>T | CA358204477 | MYOZ2 | c.560G>T (p.Arg187Met) | gnomAD v4 |
| 4 | g.119164395G>A | CA358204479 | MYOZ2 | c.560+1G>A (n.560+1G>A) | |
| 4 | g.119164395G>C | CA358204478 | MYOZ2 | c.560+1G>C (n.560+1G>C) | |
| 4 | g.119164395G= | CA1488811929 | MYOZ2 | c.560+1G= (n.560+1G=) | |
| 4 | g.119164395G>T | CA3058662 | MYOZ2 | c.560+1G>T (n.560+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164396T>A | CA104971831 | MYOZ2 | c.560+2T>A (n.560+2T>A) | dbSNP |
| 4 | g.119164396T>C | CA358204481 | MYOZ2 | c.560+2T>C (n.560+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164396T>G | CA358204480 | MYOZ2 | c.560+2T>G (n.560+2T>G) | |
| 4 | g.119164396T= | CA1488811930 | MYOZ2 | c.560+2T= (n.560+2T=) | |
| 4 | g.119164401C>A | CA2707157084 | MYOZ2 | c.560+7C>A (n.560+7C>A) | dbSNP |
| 4 | g.119164401C>T | CA2671884437 | MYOZ2 | c.560+7C>T (n.560+7C>T) | gnomAD v4 |
| 4 | g.119164403A= | CA1488811931 | MYOZ2 | c.560+9A= (n.560+9A=) | |
| 4 | g.119164403A>G | CA137043 | MYOZ2 | c.560+9A>G (n.560+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164404T>C | CA3058663 | MYOZ2 | c.560+10T>C (n.560+10T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164404T= | CA1488811932 | MYOZ2 | c.560+10T= (n.560+10T=) | |
| 4 | g.119164405G= | CA1488811933 | MYOZ2 | c.560+11G= (n.560+11G=) | |
| 4 | g.119164405G>T | CA3058664 | MYOZ2 | c.560+11G>T (n.560+11G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164406del | CA2578177031 | MYOZ2 | c.560+12del (n.560+12del) | |
| 4 | g.119164407T>C | CA2578177032 | MYOZ2 | c.560+13T>C (n.560+13T>C) | |
| 4 | g.119164408C= | CA1488811934 | MYOZ2 | c.560+14C= (n.560+14C=) | |
| 4 | g.119164408C>T | CA554526263 | MYOZ2 | c.560+14C>T (n.560+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164410T>G | CA3058665 | MYOZ2 | c.560+16T>G (n.560+16T>G) | dbSNP ExAC gnomAD v2 |
| 4 | g.119164410T= | CA1488811935 | MYOZ2 | c.560+16T= (n.560+16T=) | |
| 4 | g.119164411G>A | CA1488811938 | MYOZ2 | c.560+17G>A (n.560+17G>A) | dbSNP gnomAD v4 |
| 4 | g.119164411G= | CA1488811937 | MYOZ2 | c.560+17G= (n.560+17G=) | |
| 4 | g.119164411G>T | CA1488811936 | MYOZ2 | c.560+17G>T (n.560+17G>T) | dbSNP |
| 4 | g.119164412G>A | CA648822713 | MYOZ2 | c.560+18G>A (n.560+18G>A) | COSMIC |
| 4 | g.119164412G>T | CA2763273742 | MYOZ2 | c.560+18G>T (n.560+18G>T) | |
| 4 | g.119164413G>A | CA1488811940 | MYOZ2 | c.560+19G>A (n.560+19G>A) | dbSNP gnomAD v4 |
| 4 | g.119164413G= | CA1488811939 | MYOZ2 | c.560+19G= (n.560+19G=) | |
| 4 | g.119164414T>C | CA786082981 | MYOZ2 | c.560+20T>C (n.560+20T>C) | dbSNP gnomAD v4 |
| 4 | g.119164414T>G | CA2671884438 | MYOZ2 | c.560+20T>G (n.560+20T>G) | gnomAD v4 |
| 4 | g.119164414T= | CA1488811941 | MYOZ2 | c.560+20T= (n.560+20T=) | |
| 4 | g.119164415G>A | CA2671884439 | MYOZ2 | c.560+21G>A (n.560+21G>A) | gnomAD v4 |
| 4 | g.119164415dup | CA1488811942 | MYOZ2 | c.560+21dup (n.560+21dup) | dbSNP |
| 4 | g.119164416A>G | CA2671884440 | MYOZ2 | c.560+22A>G (n.560+22A>G) | gnomAD v4 |
| 4 | g.119164417C>T | CA2671884441 | MYOZ2 | c.560+23C>T (n.560+23C>T) | gnomAD v4 |