Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.66560640T>C | CA381447493 | ACTN3 | c.1745T>C (p.Ile582Thr) c.1874T>C (p.Ile625Thr) | |
11 | g.66560640T>G | CA381447497 | ACTN3 | c.1745T>G (p.Ile582Ser) c.1874T>G (p.Ile625Ser) | |
11 | g.66560641C>G | CA381447500 | ACTN3 | c.1746C>G (p.Ile582Met) c.1875C>G (p.Ile625Met) | |
11 | g.66560642A= | CA1979721424 | ACTN3 | c.1747A= (p.Met583=) c.1876A= (p.Met626=) | |
11 | g.66560642A>C | CA381447502 | ACTN3 | c.1747A>C (p.Met583Leu) c.1876A>C (p.Met626Leu) | |
11 | g.66560642A>G | CA224075877 | ACTN3 | c.1747A>G (p.Met583Val) c.1876A>G (p.Met626Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560642A>T | CA381447512 | ACTN3 | c.1747A>T (p.Met583Leu) c.1876A>T (p.Met626Leu) | |
11 | g.66560643T>A | CA381447516 | ACTN3 | c.1748T>A (p.Met583Lys) c.1877T>A (p.Met626Lys) | |
11 | g.66560643T>C | CA381447518 | ACTN3 | c.1748T>C (p.Met583Thr) c.1877T>C (p.Met626Thr) | gnomAD v4 |
11 | g.66560643T>G | CA381447520 | ACTN3 | c.1748T>G (p.Met583Arg) c.1877T>G (p.Met626Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560643T= | CA1979721429 | ACTN3 | c.1748T= (p.Met583=) c.1877T= (p.Met626=) | |
11 | g.66560644G>A | CA381447524 | ACTN3 | c.1749G>A (p.Met583Ile) c.1878G>A (p.Met626Ile) | dbSNP |
11 | g.66560644G>C | CA381447529 | ACTN3 | c.1749G>C (p.Met583Ile) c.1878G>C (p.Met626Ile) | dbSNP gnomAD v4 |
11 | g.66560644G= | CA1979721436 | ACTN3 | c.1749G= (p.Met583=) c.1878G= (p.Met626=) | |
11 | g.66560644G>T | CA381447526 | ACTN3 | c.1749G>T (p.Met583Ile) c.1878G>T (p.Met626Ile) | |
11 | g.66560645G>A | CA381447531 | ACTN3 | c.1750G>A (p.Gly584Ser) c.1879G>A (p.Gly627Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560645G>C | CA381447533 | ACTN3 | c.1750G>C (p.Gly584Arg) c.1879G>C (p.Gly627Arg) | |
11 | g.66560645G= | CA1979721437 | ACTN3 | c.1750G= (p.Gly584=) c.1879G= (p.Gly627=) | |
11 | g.66560645G>T | CA381447535 | ACTN3 | c.1750G>T (p.Gly584Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
11 | g.66560646G>A | CA381447538 | ACTN3 | c.1751G>A (p.Gly584Asp) c.1880G>A (p.Gly627Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560646G>C | CA381447540 | ACTN3 | c.1751G>C (p.Gly584Ala) c.1880G>C (p.Gly627Ala) | |
11 | g.66560646G= | CA1979721439 | ACTN3 | c.1751G= (p.Gly584=) c.1880G= (p.Gly627=) | |
11 | g.66560646G>T | CA381447542 | ACTN3 | c.1751G>T (p.Gly584Val) c.1880G>T (p.Gly627Val) | |
11 | g.66560647C>A | CA475494336 | ACTN3 | c.1752C>A (p.Gly584=) c.1881C>A (p.Gly627=) | |
11 | g.66560647C= | CA1979721453 | ACTN3 | c.1752C= (p.Gly584=) c.1881C= (p.Gly627=) | |
11 | g.66560647C>G | CA475494338 | ACTN3 | c.1752C>G (p.Gly584=) c.1881C>G (p.Gly627=) | |
11 | g.66560647C>T | CA475494337 | ACTN3 | c.1752C>T (p.Gly584=) c.1881C>T (p.Gly627=) | |
11 | g.66560648A>C | CA381447544 | ACTN3 | c.1753A>C (p.Ile585Leu) c.1882A>C (p.Ile628Leu) | gnomAD v4 |
11 | g.66560648A>G | CA381447547 | ACTN3 | c.1753A>G (p.Ile585Val) c.1882A>G (p.Ile628Val) | |
11 | g.66560648A>T | CA381447550 | ACTN3 | c.1753A>T (p.Ile585Phe) c.1882A>T (p.Ile628Phe) | |
11 | g.66560654_66560665dup | CA600232698 | ACTN3 | c.1759_1770dup (p.Gln590_Lys591insGlyGluIleGln) c.1888_1899dup (p.Gln633_Lys634insGlyGluIleGln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560649T>A | CA381447564 | ACTN3 | c.1754T>A (p.Ile585Asn) c.1883T>A (p.Ile628Asn) | |
11 | g.66560649T>C | CA381447562 | ACTN3 | c.1754T>C (p.Ile585Thr) c.1883T>C (p.Ile628Thr) | COSMIC |
11 | g.66560649T>G | CA381447553 | ACTN3 | c.1754T>G (p.Ile585Ser) c.1883T>G (p.Ile628Ser) | |
11 | g.66560650C>A | CA475494340 | ACTN3 | c.1755C>A (p.Ile585=) c.1884C>A (p.Ile628=) | |
11 | g.66560650C>G | CA381447566 | ACTN3 | c.1755C>G (p.Ile585Met) c.1884C>G (p.Ile628Met) | gnomAD v4 |