Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.119185971C>A | CA358201344 | MYOZ2 | c.566C>A (p.Ala189Asp) | |
4 | g.119185971C= | CA1488821457 | MYOZ2 | c.566C= (p.Ala189=) | |
4 | g.119185971C>G | CA358201346 | MYOZ2 | c.566C>G (p.Ala189Gly) | |
4 | g.119185971C>T | CA3058683 | MYOZ2 | c.566C>T (p.Ala189Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119185972C>A | CA441001742 | MYOZ2 | c.567C>A (p.Ala189=) | |
4 | g.119185972C>G | CA441001746 | MYOZ2 | c.567C>G (p.Ala189=) | gnomAD v4 |
4 | g.119185972C>T | CA441001750 | MYOZ2 | c.567C>T (p.Ala189=) | |
4 | g.119185973A>C | CA358201349 | MYOZ2 | c.568A>C (p.Thr190Pro) | |
4 | g.119185973A>G | CA358201355 | MYOZ2 | c.568A>G (p.Thr190Ala) | |
4 | g.119185973A>T | CA358201351 | MYOZ2 | c.568A>T (p.Thr190Ser) | |
4 | g.119185974C>A | CA358201357 | MYOZ2 | c.569C>A (p.Thr190Lys) | |
4 | g.119185974C= | CA1488821458 | MYOZ2 | c.569C= (p.Thr190=) | |
4 | g.119185974C>G | CA358201359 | MYOZ2 | c.569C>G (p.Thr190Arg) | |
4 | g.119185974C>T | CA358201360 | MYOZ2 | c.569C>T (p.Thr190Ile) | dbSNP |
4 | g.119185975A= | CA1488821459 | MYOZ2 | c.570A= (p.Thr190=) | |
4 | g.119185975A>C | CA441001760 | MYOZ2 | c.570A>C (p.Thr190=) | |
4 | g.119185975A>G | CA441001761 | MYOZ2 | c.570A>G (p.Thr190=) | gnomAD v4 |
4 | g.119185975A>T | CA441001762 | MYOZ2 | c.570A>T (p.Thr190=) | dbSNP |
4 | g.119185976C>A | CA358201362 | MYOZ2 | c.571C>A (p.Pro191Thr) | |
4 | g.119185976C>G | CA358201363 | MYOZ2 | c.571C>G (p.Pro191Ala) | |
4 | g.119185976C>T | CA358201365 | MYOZ2 | c.571C>T (p.Pro191Ser) | gnomAD v4 |
4 | g.119185977C>A | CA358201367 | MYOZ2 | c.572C>A (p.Pro191Gln) | |
4 | g.119185977C>G | CA358201369 | MYOZ2 | c.572C>G (p.Pro191Arg) | gnomAD v4 |
4 | g.119185977C>T | CA358201370 | MYOZ2 | c.572C>T (p.Pro191Leu) | |
4 | g.119185978A= | CA1488821460 | MYOZ2 | c.573A= (p.Pro191=) | |
4 | g.119185978A>C | CA441001769 | MYOZ2 | c.573A>C (p.Pro191=) | |
4 | g.119185978A>G | CA441001774 | MYOZ2 | c.573A>G (p.Pro191=) | dbSNP |
4 | g.119185978A>T | CA441001767 | MYOZ2 | c.573A>T (p.Pro191=) | |
4 | g.119185979T>A | CA358201371 | MYOZ2 | c.574T>A (p.Phe192Ile) | |
4 | g.119185979T>C | CA358201373 | MYOZ2 | c.574T>C (p.Phe192Leu) | |
4 | g.119185979T>G | CA358201375 | MYOZ2 | c.574T>G (p.Phe192Val) | |
4 | g.119185980T>A | CA358201378 | MYOZ2 | c.575T>A (p.Phe192Tyr) | |
4 | g.119185980T>C | CA358201379 | MYOZ2 | c.575T>C (p.Phe192Ser) | |
4 | g.119185980T>G | CA358201376 | MYOZ2 | c.575T>G (p.Phe192Cys) | |
4 | g.119185981T>A | CA358201382 | MYOZ2 | c.576T>A (p.Phe192Leu) | |
4 | g.119185981T>C | CA441001784 | MYOZ2 | c.576T>C (p.Phe192=) | |
4 | g.119185981T>G | CA358201381 | MYOZ2 | c.576T>G (p.Phe192Leu) | |
4 | g.119185981_119185982delinsTG | CA1488821461 | MYOZ2 | c.576_577delinsTG (p.Phe192=) | |
4 | g.119185982G>A | CA358201385 | MYOZ2 | c.577G>A (p.Gly193Arg) | ClinVar gnomAD v4 |
4 | g.119185982G>C | CA358201386 | MYOZ2 | c.577G>C (p.Gly193Arg) | |
4 | g.119185982G>T | CA358201389 | MYOZ2 | c.577G>T (p.Gly193Ter) | |
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) |