| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13901376A>C | CA359205406 | DNAH5 | c.1928T>G (p.Leu643Arg) c.1883T>G (p.Leu628Arg) n.2135T>G c.2036T>G (p.Leu679Arg) c.941T>G (p.Leu314Arg) c.530T>G (p.Leu177Arg) n.2053T>G | |
| 5 | g.13901376A>G | CA359205409 | DNAH5 | c.1928T>C (p.Leu643Pro) c.1883T>C (p.Leu628Pro) n.2135T>C c.2036T>C (p.Leu679Pro) c.941T>C (p.Leu314Pro) c.530T>C (p.Leu177Pro) n.2053T>C | |
| 5 | g.13901376A>T | CA359205410 | DNAH5 | c.1928T>A (p.Leu643His) c.1883T>A (p.Leu628His) n.2135T>A c.2036T>A (p.Leu679His) c.941T>A (p.Leu314His) c.530T>A (p.Leu177His) n.2053T>A | |
| 5 | g.13901377G>A | CA359205418 | DNAH5 | c.1927C>T (p.Leu643Phe) c.1882C>T (p.Leu628Phe) n.2134C>T c.2035C>T (p.Leu679Phe) c.940C>T (p.Leu314Phe) c.529C>T (p.Leu177Phe) n.2052C>T | gnomAD v4 |
| 5 | g.13901377G>C | CA359205420 | DNAH5 | c.1927C>G (p.Leu643Val) c.1882C>G (p.Leu628Val) n.2134C>G c.2035C>G (p.Leu679Val) c.940C>G (p.Leu314Val) c.529C>G (p.Leu177Val) n.2052C>G | |
| 5 | g.13901377G>T | CA359205422 | DNAH5 | c.1927C>A (p.Leu643Ile) c.1882C>A (p.Leu628Ile) n.2134C>A c.2035C>A (p.Leu679Ile) c.940C>A (p.Leu314Ile) c.529C>A (p.Leu177Ile) n.2052C>A | |
| 5 | g.13901378C>A | CA359205426 | DNAH5 | c.1926G>T (p.Gln642His) c.1881G>T (p.Gln627His) n.2133G>T c.2034G>T (p.Gln678His) c.939G>T (p.Gln313His) c.528G>T (p.Gln176His) n.2051G>T | |
| 5 | g.13901378C>G | CA359205432 | DNAH5 | c.1926G>C (p.Gln642His) c.1881G>C (p.Gln627His) n.2133G>C c.2034G>C (p.Gln678His) c.939G>C (p.Gln313His) c.528G>C (p.Gln176His) n.2051G>C | gnomAD v4 |
| 5 | g.13901378C>T | CA443536760 | DNAH5 | c.1926G>A (p.Gln642=) c.1881G>A (p.Gln627=) n.2133G>A c.2034G>A (p.Gln678=) c.939G>A (p.Gln313=) c.528G>A (p.Gln176=) n.2051G>A | gnomAD v4 |
| 5 | g.13901379T>A | CA359205435 | DNAH5 | c.1925A>T (p.Gln642Leu) c.1880A>T (p.Gln627Leu) n.2132A>T c.2033A>T (p.Gln678Leu) c.938A>T (p.Gln313Leu) c.527A>T (p.Gln176Leu) n.2050A>T | |
| 5 | g.13901379T>C | CA359205434 | DNAH5 | c.1925A>G (p.Gln642Arg) c.1880A>G (p.Gln627Arg) n.2132A>G c.2033A>G (p.Gln678Arg) c.938A>G (p.Gln313Arg) c.527A>G (p.Gln176Arg) n.2050A>G | |
| 5 | g.13901379T>G | CA359205433 | DNAH5 | c.1925A>C (p.Gln642Pro) c.1880A>C (p.Gln627Pro) n.2132A>C c.2033A>C (p.Gln678Pro) c.938A>C (p.Gln313Pro) c.527A>C (p.Gln176Pro) n.2050A>C | |
| 5 | g.13901380G>A | CA359205436 | DNAH5 | c.1924C>T (p.Gln642Ter) c.1879C>T (p.Gln627Ter) n.2131C>T c.2032C>T (p.Gln678Ter) c.937C>T (p.Gln313Ter) c.526C>T (p.Gln176Ter) n.2049C>T | ClinVar |
| 5 | g.13901380G>C | CA359205437 | DNAH5 | c.1924C>G (p.Gln642Glu) c.1879C>G (p.Gln627Glu) n.2131C>G c.2032C>G (p.Gln678Glu) c.937C>G (p.Gln313Glu) c.526C>G (p.Gln176Glu) n.2049C>G | |
| 5 | g.13901380G>T | CA359205438 | DNAH5 | c.1924C>A (p.Gln642Lys) c.1879C>A (p.Gln627Lys) n.2131C>A c.2032C>A (p.Gln678Lys) c.937C>A (p.Gln313Lys) c.526C>A (p.Gln176Lys) n.2049C>A | gnomAD v4 |
| 5 | g.13901381C>A | CA359205439 | DNAH5 | c.1923G>T (p.Met641Ile) c.1878G>T (p.Met626Ile) n.2130G>T c.2031G>T (p.Met677Ile) c.936G>T (p.Met312Ile) c.525G>T (p.Met175Ile) n.2048G>T | COSMIC |
| 5 | g.13901381C>G | CA359205440 | DNAH5 | c.1923G>C (p.Met641Ile) c.1878G>C (p.Met626Ile) n.2130G>C c.2031G>C (p.Met677Ile) c.936G>C (p.Met312Ile) c.525G>C (p.Met175Ile) n.2048G>C | |
| 5 | g.13901381C>T | CA359205441 | DNAH5 | c.1923G>A (p.Met641Ile) c.1878G>A (p.Met626Ile) n.2130G>A c.2031G>A (p.Met677Ile) c.936G>A (p.Met312Ile) c.525G>A (p.Met175Ile) n.2048G>A | gnomAD v4 |
| 5 | g.13901382A= | CA1528490430 | DNAH5 | c.1922T= (p.Met641=) c.1877T= (p.Met626=) n.2129T= c.2030T= (p.Met677=) c.935T= (p.Met312=) c.524T= (p.Met175=) n.2047T= | |
| 5 | g.13901382A>C | CA359205442 | DNAH5 | c.1922T>G (p.Met641Arg) c.1877T>G (p.Met626Arg) n.2129T>G c.2030T>G (p.Met677Arg) c.935T>G (p.Met312Arg) c.524T>G (p.Met175Arg) n.2047T>G | |
| 5 | g.13901382A>G | CA113944232 | DNAH5 | c.1922T>C (p.Met641Thr) c.1877T>C (p.Met626Thr) n.2129T>C c.2030T>C (p.Met677Thr) c.935T>C (p.Met312Thr) c.524T>C (p.Met175Thr) n.2047T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901382A>T | CA359205444 | DNAH5 | c.1922T>A (p.Met641Lys) c.1877T>A (p.Met626Lys) n.2129T>A c.2030T>A (p.Met677Lys) c.935T>A (p.Met312Lys) c.524T>A (p.Met175Lys) n.2047T>A | |
| 5 | g.13901383T>A | CA359205447 | DNAH5 | c.1921A>T (p.Met641Leu) c.1876A>T (p.Met626Leu) n.2128A>T c.2029A>T (p.Met677Leu) c.934A>T (p.Met312Leu) c.523A>T (p.Met175Leu) n.2046A>T | gnomAD v4 |
| 5 | g.13901383T>C | CA359205451 | DNAH5 | c.1921A>G (p.Met641Val) c.1876A>G (p.Met626Val) n.2128A>G c.2029A>G (p.Met677Val) c.934A>G (p.Met312Val) c.523A>G (p.Met175Val) n.2046A>G | dbSNP gnomAD v4 |
| 5 | g.13901383T>G | CA359205456 | DNAH5 | c.1921A>C (p.Met641Leu) c.1876A>C (p.Met626Leu) n.2128A>C c.2029A>C (p.Met677Leu) c.934A>C (p.Met312Leu) c.523A>C (p.Met175Leu) n.2046A>C | |
| 5 | g.13901383T= | CA1528490431 | DNAH5 | c.1921A= (p.Met641=) c.1876A= (p.Met626=) n.2128A= c.2029A= (p.Met677=) c.934A= (p.Met312=) c.523A= (p.Met175=) n.2046A= | |
| 5 | g.13901384G>A | CA443536765 | DNAH5 | c.1920C>T (p.Pro640=) c.1875C>T (p.Pro625=) n.2127C>T c.2028C>T (p.Pro676=) c.933C>T (p.Pro311=) c.522C>T (p.Pro174=) n.2045C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901384G>C | CA443536768 | DNAH5 | c.1920C>G (p.Pro640=) c.1875C>G (p.Pro625=) n.2127C>G c.2028C>G (p.Pro676=) c.933C>G (p.Pro311=) c.522C>G (p.Pro174=) n.2045C>G | |
| 5 | g.13901384G= | CA1528490432 | DNAH5 | c.1920C= (p.Pro640=) c.1875C= (p.Pro625=) n.2127C= c.2028C= (p.Pro676=) c.933C= (p.Pro311=) c.522C= (p.Pro174=) n.2045C= | |
| 5 | g.13901384G>T | CA443536767 | DNAH5 | c.1920C>A (p.Pro640=) c.1875C>A (p.Pro625=) n.2127C>A c.2028C>A (p.Pro676=) c.933C>A (p.Pro311=) c.522C>A (p.Pro174=) n.2045C>A | COSMIC |
| 5 | g.13901385G>A | CA359205467 | DNAH5 | c.1919C>T (p.Pro640Leu) c.1874C>T (p.Pro625Leu) n.2126C>T c.2027C>T (p.Pro676Leu) c.932C>T (p.Pro311Leu) c.521C>T (p.Pro174Leu) n.2044C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901385G>C | CA359205465 | DNAH5 | c.1919C>G (p.Pro640Arg) c.1874C>G (p.Pro625Arg) n.2126C>G c.2027C>G (p.Pro676Arg) c.932C>G (p.Pro311Arg) c.521C>G (p.Pro174Arg) n.2044C>G | |
| 5 | g.13901385G= | CA1528490433 | DNAH5 | c.1919C= (p.Pro640=) c.1874C= (p.Pro625=) n.2126C= c.2027C= (p.Pro676=) c.932C= (p.Pro311=) c.521C= (p.Pro174=) n.2044C= | |
| 5 | g.13901385G>T | CA359205464 | DNAH5 | c.1919C>A (p.Pro640His) c.1874C>A (p.Pro625His) n.2126C>A c.2027C>A (p.Pro676His) c.932C>A (p.Pro311His) c.521C>A (p.Pro174His) n.2044C>A | |
| 5 | g.13901386G>A | CA359205470 | DNAH5 | c.1918C>T (p.Pro640Ser) c.1873C>T (p.Pro625Ser) n.2125C>T c.2026C>T (p.Pro676Ser) c.931C>T (p.Pro311Ser) c.520C>T (p.Pro174Ser) n.2043C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901386G>C | CA359205472 | DNAH5 | c.1918C>G (p.Pro640Ala) c.1873C>G (p.Pro625Ala) n.2125C>G c.2026C>G (p.Pro676Ala) c.931C>G (p.Pro311Ala) c.520C>G (p.Pro174Ala) n.2043C>G | |
| 5 | g.13901386G= | CA1528490434 | DNAH5 | c.1918C= (p.Pro640=) c.1873C= (p.Pro625=) n.2125C= c.2026C= (p.Pro676=) c.931C= (p.Pro311=) c.520C= (p.Pro174=) n.2043C= | |
| 5 | g.13901386G>T | CA359205471 | DNAH5 | c.1918C>A (p.Pro640Thr) c.1873C>A (p.Pro625Thr) n.2125C>A c.2026C>A (p.Pro676Thr) c.931C>A (p.Pro311Thr) c.520C>A (p.Pro174Thr) n.2043C>A | |
| 5 | g.13901387C>A | CA359205473 | DNAH5 | c.1917G>T (p.Gln639His) c.1872G>T (p.Gln624His) n.2124G>T c.2025G>T (p.Gln675His) c.930G>T (p.Gln310His) c.519G>T (p.Gln173His) n.2042G>T | |
| 5 | g.13901387C>G | CA359205474 | DNAH5 | c.1917G>C (p.Gln639His) c.1872G>C (p.Gln624His) n.2124G>C c.2025G>C (p.Gln675His) c.930G>C (p.Gln310His) c.519G>C (p.Gln173His) n.2042G>C | |
| 5 | g.13901387C>T | CA443536769 | DNAH5 | c.1917G>A (p.Gln639=) c.1872G>A (p.Gln624=) n.2124G>A c.2025G>A (p.Gln675=) c.930G>A (p.Gln310=) c.519G>A (p.Gln173=) n.2042G>A | |
| 5 | g.13901388T>A | CA359205476 | DNAH5 | c.1916A>T (p.Gln639Leu) c.1871A>T (p.Gln624Leu) n.2123A>T c.2024A>T (p.Gln675Leu) c.929A>T (p.Gln310Leu) c.518A>T (p.Gln173Leu) n.2041A>T | |
| 5 | g.13901388T>C | CA359205478 | DNAH5 | c.1916A>G (p.Gln639Arg) c.1871A>G (p.Gln624Arg) n.2123A>G c.2024A>G (p.Gln675Arg) c.929A>G (p.Gln310Arg) c.518A>G (p.Gln173Arg) n.2041A>G | |
| 5 | g.13901388T>G | CA359205481 | DNAH5 | c.1916A>C (p.Gln639Pro) c.1871A>C (p.Gln624Pro) n.2123A>C c.2024A>C (p.Gln675Pro) c.929A>C (p.Gln310Pro) c.518A>C (p.Gln173Pro) n.2041A>C | |
| 5 | g.13901389G>A | CA359205483 | DNAH5 | c.1915C>T (p.Gln639Ter) c.1870C>T (p.Gln624Ter) n.2122C>T c.2023C>T (p.Gln675Ter) c.928C>T (p.Gln310Ter) c.517C>T (p.Gln173Ter) n.2040C>T | ClinVar dbSNP |
| 5 | g.13901389G>C | CA359205487 | DNAH5 | c.1915C>G (p.Gln639Glu) c.1870C>G (p.Gln624Glu) n.2122C>G c.2023C>G (p.Gln675Glu) c.928C>G (p.Gln310Glu) c.517C>G (p.Gln173Glu) n.2040C>G | |
| 5 | g.13901389G= | CA1528490435 | DNAH5 | c.1915C= (p.Gln639=) c.1870C= (p.Gln624=) n.2122C= c.2023C= (p.Gln675=) c.928C= (p.Gln310=) c.517C= (p.Gln173=) n.2040C= | |
| 5 | g.13901389G>T | CA359205488 | DNAH5 | c.1915C>A (p.Gln639Lys) c.1870C>A (p.Gln624Lys) n.2122C>A c.2023C>A (p.Gln675Lys) c.928C>A (p.Gln310Lys) c.517C>A (p.Gln173Lys) n.2040C>A | |
| 5 | g.13901390C>A | CA359205490 | DNAH5 | c.1914G>T (p.Gln638His) c.1869G>T (p.Gln623His) n.2121G>T c.2022G>T (p.Gln674His) c.927G>T (p.Gln309His) c.516G>T (p.Gln172His) n.2039G>T | |
| 5 | g.13901390C>G | CA359205491 | DNAH5 | c.1914G>C (p.Gln638His) c.1869G>C (p.Gln623His) n.2121G>C c.2022G>C (p.Gln674His) c.927G>C (p.Gln309His) c.516G>C (p.Gln172His) n.2039G>C |