| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66560620_66560624delinsTGACC | CA1979721369 | ACTN3 | c.1725_1729delinsTGACC (p.Ala575=) c.1854_1858delinsTGACC (p.Ala618=) | |
| 11 | g.66560623_66560626del | CA1979721374 | ACTN3 | c.1728_1731del (p.Asp576GlufsTer?) c.1857_1860del (p.Asp619GlufsTer?) | dbSNP |
| 11 | g.66560624C>A | CA1979721384 | ACTN3 | c.1729C>A (p.Arg577=) c.1858C>A (p.Arg620=) | dbSNP |
| 11 | g.66560624C= | CA6124840 | ACTN3 | c.1729C= (p.Arg577=) c.1858C= (p.Arg620=) | |
| 11 | g.66560624C>G | CA381447409 | ACTN3 | c.1729C>G (p.Arg577Gly) c.1858C>G (p.Arg620Gly) | |
| 11 | g.66560624C>T | CA128040 | ACTN3 | c.1729C>T (p.Arg577Ter) c.1858C>T (p.Arg620Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560625G>A | CA224075870 | ACTN3 | c.1730G>A (p.Arg577Gln) c.1859G>A (p.Arg620Gln) | dbSNP gnomAD v4 |
| 11 | g.66560625G>C | CA381447411 | ACTN3 | c.1730G>C (p.Arg577Pro) c.1859G>C (p.Arg620Pro) | |
| 11 | g.66560625G= | CA1979721388 | ACTN3 | c.1730G= (p.Arg577=) c.1859G= (p.Arg620=) | |
| 11 | g.66560625G>T | CA381447412 | ACTN3 | c.1730G>T (p.Arg577Leu) c.1859G>T (p.Arg620Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560626A>C | CA2614514250 | ACTN3 | c.1731A>C (p.Arg577=) c.1860A>C (p.Arg620=) | gnomAD v4 |
| 11 | g.66560627G>A | CA381447414 | ACTN3 | c.1732G>A (p.Glu578Lys) c.1861G>A (p.Glu621Lys) | dbSNP gnomAD v4 |
| 11 | g.66560627G>C | CA381447415 | ACTN3 | c.1732G>C (p.Glu578Gln) c.1861G>C (p.Glu621Gln) | dbSNP gnomAD v4 |
| 11 | g.66560627G= | CA1979721400 | ACTN3 | c.1732G= (p.Glu578=) c.1861G= (p.Glu621=) | |
| 11 | g.66560627G>T | CA381447418 | ACTN3 | c.1732G>T (p.Glu578Ter) c.1861G>T (p.Glu621Ter) | |
| 11 | g.66560628A>C | CA381447425 | ACTN3 | c.1733A>C (p.Glu578Ala) c.1862A>C (p.Glu621Ala) | gnomAD v4 |
| 11 | g.66560628A>G | CA381447424 | ACTN3 | c.1733A>G (p.Glu578Gly) c.1862A>G (p.Glu621Gly) | gnomAD v4 |
| 11 | g.66560628A>T | CA381447422 | ACTN3 | c.1733A>T (p.Glu578Val) c.1862A>T (p.Glu621Val) | |
| 11 | g.66560629G>C | CA381447433 | ACTN3 | c.1734G>C (p.Glu578Asp) c.1863G>C (p.Glu621Asp) | |
| 11 | g.66560629G>T | CA381447434 | ACTN3 | c.1734G>T (p.Glu578Asp) c.1863G>T (p.Glu621Asp) | |
| 11 | g.66560630C>A | CA224075875 | ACTN3 | c.1735C>A (p.Arg579=) c.1864C>A (p.Arg622=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560630C= | CA1979721404 | ACTN3 | c.1735C= (p.Arg579=) c.1864C= (p.Arg622=) | |
| 11 | g.66560630C>G | CA381447435 | ACTN3 | c.1735C>G (p.Arg579Gly) c.1864C>G (p.Arg622Gly) | |
| 11 | g.66560630C>T | CA6124841 | ACTN3 | c.1735C>T (p.Arg579Ter) c.1864C>T (p.Arg622Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560631G>A | CA6124842 | ACTN3 | c.1736G>A (p.Arg579Gln) c.1865G>A (p.Arg622Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560631G>C | CA381447442 | ACTN3 | c.1736G>C (p.Arg579Pro) c.1865G>C (p.Arg622Pro) | |
| 11 | g.66560631G= | CA1979721410 | ACTN3 | c.1736G= (p.Arg579=) c.1865G= (p.Arg622=) | |
| 11 | g.66560631G>T | CA381447445 | ACTN3 | c.1736G>T (p.Arg579Leu) c.1865G>T (p.Arg622Leu) | |
| 11 | g.66560632A>G | CA2500689828 | ACTN3 | c.1737A>G (p.Arg579=) c.1866A>G (p.Arg622=) | |
| 11 | g.66560633G>A | CA381447448 | ACTN3 | c.1738G>A (p.Gly580Ser) c.1867G>A (p.Gly623Ser) | gnomAD v4 |
| 11 | g.66560633G>C | CA381447451 | ACTN3 | c.1738G>C (p.Gly580Arg) c.1867G>C (p.Gly623Arg) | |
| 11 | g.66560633G>T | CA381447457 | ACTN3 | c.1738G>T (p.Gly580Cys) c.1867G>T (p.Gly623Cys) | |
| 11 | g.66560634G>A | CA381447459 | ACTN3 | c.1739G>A (p.Gly580Asp) c.1868G>A (p.Gly623Asp) | dbSNP gnomAD v4 |
| 11 | g.66560634G>C | CA381447462 | ACTN3 | c.1739G>C (p.Gly580Ala) c.1868G>C (p.Gly623Ala) | |
| 11 | g.66560634G= | CA1979721415 | ACTN3 | c.1739G= (p.Gly580=) c.1868G= (p.Gly623=) | |
| 11 | g.66560634G>T | CA381447463 | ACTN3 | c.1739G>T (p.Gly580Val) c.1868G>T (p.Gly623Val) | |
| 11 | g.66560636G>A | CA6124843 | ACTN3 | c.1741G>A (p.Ala581Thr) c.1870G>A (p.Ala624Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560636G>C | CA381447471 | ACTN3 | c.1741G>C (p.Ala581Pro) c.1870G>C (p.Ala624Pro) | |
| 11 | g.66560636G= | CA1979721418 | ACTN3 | c.1741G= (p.Ala581=) c.1870G= (p.Ala624=) | |
| 11 | g.66560636G>T | CA381447465 | ACTN3 | c.1741G>T (p.Ala581Ser) c.1870G>T (p.Ala624Ser) | |
| 11 | g.66560637C>A | CA381447477 | ACTN3 | c.1742C>A (p.Ala581Asp) c.1871C>A (p.Ala624Asp) | gnomAD v4 |
| 11 | g.66560637C>G | CA381447482 | ACTN3 | c.1742C>G (p.Ala581Gly) c.1871C>G (p.Ala624Gly) | |
| 11 | g.66560637C>T | CA381447479 | ACTN3 | c.1742C>T (p.Ala581Val) c.1871C>T (p.Ala624Val) | |
| 11 | g.66560638dup | CA2614514272 | ACTN3 | c.1743dup (p.Ile582HisfsTer7) c.1872dup (p.Ile625HisfsTer7) | gnomAD v4 |
| 11 | g.66560638C= | CA1979721420 | ACTN3 | c.1743C= (p.Ala581=) c.1872C= (p.Ala624=) | |
| 11 | g.66560638C>G | CA1979721422 | ACTN3 | c.1743C>G (p.Ala581=) c.1872C>G (p.Ala624=) | dbSNP |
| 11 | g.66560639A>C | CA381447484 | ACTN3 | c.1744A>C (p.Ile582Leu) c.1873A>C (p.Ile625Leu) | |
| 11 | g.66560639A>G | CA381447486 | ACTN3 | c.1744A>G (p.Ile582Val) c.1873A>G (p.Ile625Val) | |
| 11 | g.66560639A>T | CA381447489 | ACTN3 | c.1744A>T (p.Ile582Phe) c.1873A>T (p.Ile625Phe) | |
| 11 | g.66560640T>A | CA381447491 | ACTN3 | c.1745T>A (p.Ile582Asn) c.1874T>A (p.Ile625Asn) |