Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.119164313C>A | CA358204293 | MYOZ2 | c.479C>A (p.Pro160Gln) | |
4 | g.119164313C= | CA1488811894 | MYOZ2 | c.479C= (p.Pro160=) | |
4 | g.119164313C>G | CA358204294 | MYOZ2 | c.479C>G (p.Pro160Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119164313C>T | CA321364 | MYOZ2 | c.479C>T (p.Pro160Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164314G>A | CA3058648 | MYOZ2 | c.480G>A (p.Pro160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119164314G>C | CA3058649 | MYOZ2 | c.480G>C (p.Pro160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119164314G= | CA1488811895 | MYOZ2 | c.480G= (p.Pro160=) | |
4 | g.119164314G>T | CA441009774 | MYOZ2 | c.480G>T (p.Pro160=) | |
4 | g.119164315G>A | CA358204295 | MYOZ2 | c.481G>A (p.Glu161Lys) | COSMIC |
4 | g.119164315G>C | CA358204296 | MYOZ2 | c.481G>C (p.Glu161Gln) | |
4 | g.119164315G>T | CA358204297 | MYOZ2 | c.481G>T (p.Glu161Ter) | |
4 | g.119164316A>C | CA358204298 | MYOZ2 | c.482A>C (p.Glu161Ala) | |
4 | g.119164316A>G | CA358204299 | MYOZ2 | c.482A>G (p.Glu161Gly) | |
4 | g.119164316A>T | CA358204300 | MYOZ2 | c.482A>T (p.Glu161Val) | |
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 |