Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13901382A=CA1528490430DNAH5c.1922T= (p.Met641=)
c.1877T= (p.Met626=)
n.2129T=
c.2030T= (p.Met677=)
c.935T= (p.Met312=)
c.524T= (p.Met175=)
n.2047T=
5g.13901382A>CCA359205442DNAH5c.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
5g.13901382A>GCA113944232DNAH5c.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
5g.13901382A>TCA359205444DNAH5c.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
5g.13901383T>ACA359205447DNAH5c.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
5g.13901383T>CCA359205451DNAH5c.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
5g.13901383T>GCA359205456DNAH5c.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
5g.13901383T=CA1528490431DNAH5c.1921A= (p.Met641=)
c.1876A= (p.Met626=)
n.2128A=
c.2029A= (p.Met677=)
c.934A= (p.Met312=)
c.523A= (p.Met175=)
n.2046A=
5g.13901384G>ACA443536765DNAH5c.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
5g.13901384G>CCA443536768DNAH5c.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
5g.13901384G=CA1528490432DNAH5c.1920C= (p.Pro640=)
c.1875C= (p.Pro625=)
n.2127C=
c.2028C= (p.Pro676=)
c.933C= (p.Pro311=)
c.522C= (p.Pro174=)
n.2045C=
5g.13901384G>TCA443536767DNAH5c.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
5g.13901385G>ACA359205467DNAH5c.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
5g.13901385G>CCA359205465DNAH5c.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
5g.13901385G=CA1528490433DNAH5c.1919C= (p.Pro640=)
c.1874C= (p.Pro625=)
n.2126C=
c.2027C= (p.Pro676=)
c.932C= (p.Pro311=)
c.521C= (p.Pro174=)
n.2044C=
5g.13901385G>TCA359205464DNAH5c.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
5g.13901386G>ACA359205470DNAH5c.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
5g.13901386G>CCA359205472DNAH5c.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
5g.13901386G=CA1528490434DNAH5c.1918C= (p.Pro640=)
c.1873C= (p.Pro625=)
n.2125C=
c.2026C= (p.Pro676=)
c.931C= (p.Pro311=)
c.520C= (p.Pro174=)
n.2043C=
5g.13901386G>TCA359205471DNAH5c.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
5g.13901387C>ACA359205473DNAH5c.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
5g.13901387C>GCA359205474DNAH5c.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
5g.13901387C>TCA443536769DNAH5c.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
5g.13901388T>ACA359205476DNAH5c.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
5g.13901388T>CCA359205478DNAH5c.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
5g.13901388T>GCA359205481DNAH5c.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
5g.13901389G>ACA359205483DNAH5c.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
5g.13901389G>CCA359205487DNAH5c.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
5g.13901389G=CA1528490435DNAH5c.1915C= (p.Gln639=)
c.1870C= (p.Gln624=)
n.2122C=
c.2023C= (p.Gln675=)
c.928C= (p.Gln310=)
c.517C= (p.Gln173=)
n.2040C=
5g.13901389G>TCA359205488DNAH5c.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
5g.13901390C>ACA359205490DNAH5c.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
5g.13901390C>GCA359205491DNAH5c.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
5g.13901390C>TCA443536771DNAH5c.1914G>A (p.Gln638=)
c.1869G>A (p.Gln623=)
n.2121G>A
c.2022G>A (p.Gln674=)
c.927G>A (p.Gln309=)
c.516G>A (p.Gln172=)
n.2039G>A
 ClinVar dbSNP gnomAD v4
5g.13901391T>ACA359205492DNAH5c.1913A>T (p.Gln638Leu)
c.1868A>T (p.Gln623Leu)
n.2120A>T
c.2021A>T (p.Gln674Leu)
c.926A>T (p.Gln309Leu)
c.515A>T (p.Gln172Leu)
n.2038A>T
5g.13901391T>CCA359205493DNAH5c.1913A>G (p.Gln638Arg)
c.1868A>G (p.Gln623Arg)
n.2120A>G
c.2021A>G (p.Gln674Arg)
c.926A>G (p.Gln309Arg)
c.515A>G (p.Gln172Arg)
n.2038A>G
 ClinVar dbSNP
5g.13901391T>GCA359205494DNAH5c.1913A>C (p.Gln638Pro)
c.1868A>C (p.Gln623Pro)
n.2120A>C
c.2021A>C (p.Gln674Pro)
c.926A>C (p.Gln309Pro)
c.515A>C (p.Gln172Pro)
n.2038A>C
5g.13901391T=CA1528490436DNAH5c.1913A= (p.Gln638=)
c.1868A= (p.Gln623=)
n.2120A=
c.2021A= (p.Gln674=)
c.926A= (p.Gln309=)
c.515A= (p.Gln172=)
n.2038A=
5g.13901392G>ACA359205497DNAH5c.1912C>T (p.Gln638Ter)
c.1867C>T (p.Gln623Ter)
n.2119C>T
c.2020C>T (p.Gln674Ter)
c.925C>T (p.Gln309Ter)
c.514C>T (p.Gln172Ter)
n.2037C>T
5g.13901392G>CCA359205496DNAH5c.1912C>G (p.Gln638Glu)
c.1867C>G (p.Gln623Glu)
n.2119C>G
c.2020C>G (p.Gln674Glu)
c.925C>G (p.Gln309Glu)
c.514C>G (p.Gln172Glu)
n.2037C>G
 gnomAD v4
5g.13901392G=CA1528490437DNAH5c.1912C= (p.Gln638=)
c.1867C= (p.Gln623=)
n.2119C=
c.2020C= (p.Gln674=)
c.925C= (p.Gln309=)
c.514C= (p.Gln172=)
n.2037C=
5g.13901392G>TCA359205495DNAH5c.1912C>A (p.Gln638Lys)
c.1867C>A (p.Gln623Lys)
n.2119C>A
c.2020C>A (p.Gln674Lys)
c.925C>A (p.Gln309Lys)
c.514C>A (p.Gln172Lys)
n.2037C>A
 dbSNP
5g.13901393A>CCA359205498DNAH5c.1911T>G (p.Ile637Met)
c.1866T>G (p.Ile622Met)
n.2118T>G
c.2019T>G (p.Ile673Met)
c.924T>G (p.Ile308Met)
c.513T>G (p.Ile171Met)
n.2036T>G
5g.13901393A>GCA443536774DNAH5c.1911T>C (p.Ile637=)
c.1866T>C (p.Ile622=)
n.2118T>C
c.2019T>C (p.Ile673=)
c.924T>C (p.Ile308=)
c.513T>C (p.Ile171=)
n.2036T>C
 COSMIC
5g.13901393A>TCA443536775DNAH5c.1911T>A (p.Ile637=)
c.1866T>A (p.Ile622=)
n.2118T>A
c.2019T>A (p.Ile673=)
c.924T>A (p.Ile308=)
c.513T>A (p.Ile171=)
n.2036T>A
5g.13901394A>CCA359205499DNAH5c.1910T>G (p.Ile637Ser)
c.1865T>G (p.Ile622Ser)
n.2117T>G
c.2018T>G (p.Ile673Ser)
c.923T>G (p.Ile308Ser)
c.512T>G (p.Ile171Ser)
n.2035T>G
5g.13901394A>GCA359205501DNAH5c.1910T>C (p.Ile637Thr)
c.1865T>C (p.Ile622Thr)
n.2117T>C
c.2018T>C (p.Ile673Thr)
c.923T>C (p.Ile308Thr)
c.512T>C (p.Ile171Thr)
n.2035T>C
5g.13901394A>TCA359205505DNAH5c.1910T>A (p.Ile637Asn)
c.1865T>A (p.Ile622Asn)
n.2117T>A
c.2018T>A (p.Ile673Asn)
c.923T>A (p.Ile308Asn)
c.512T>A (p.Ile171Asn)
n.2035T>A
5g.13901395T>ACA113944234DNAH5c.1909A>T (p.Ile637Phe)
c.1864A>T (p.Ile622Phe)
n.2116A>T
c.2017A>T (p.Ile673Phe)
c.922A>T (p.Ile308Phe)
c.511A>T (p.Ile171Phe)
n.2034A>T
 dbSNP gnomAD v4
5g.13901395T>CCA359205508DNAH5c.1909A>G (p.Ile637Val)
c.1864A>G (p.Ile622Val)
n.2116A>G
c.2017A>G (p.Ile673Val)
c.922A>G (p.Ile308Val)
c.511A>G (p.Ile171Val)
n.2034A>G
5g.13901395T>GCA359205509DNAH5c.1909A>C (p.Ile637Leu)
c.1864A>C (p.Ile622Leu)
n.2116A>C
c.2017A>C (p.Ile673Leu)
c.922A>C (p.Ile308Leu)
c.511A>C (p.Ile171Leu)
n.2034A>C
5g.13901395T=CA1528490438DNAH5c.1909A= (p.Ile637=)
c.1864A= (p.Ile622=)
n.2116A=
c.2017A= (p.Ile673=)
c.922A= (p.Ile308=)
c.511A= (p.Ile171=)
n.2034A=
5g.13901396C>ACA359205510DNAH5c.1908G>T (p.Arg636Ser)
c.1863G>T (p.Arg621Ser)
n.2115G>T
c.2016G>T (p.Arg672Ser)
c.921G>T (p.Arg307Ser)
c.510G>T (p.Arg170Ser)
n.2033G>T
5g.13901396C=CA1528490439DNAH5c.1908G= (p.Arg636=)
c.1863G= (p.Arg621=)
n.2115G=
c.2016G= (p.Arg672=)
c.921G= (p.Arg307=)
c.510G= (p.Arg170=)
n.2033G=
5g.13901396C>GCA359205511DNAH5c.1908G>C (p.Arg636Ser)
c.1863G>C (p.Arg621Ser)
n.2115G>C
c.2016G>C (p.Arg672Ser)
c.921G>C (p.Arg307Ser)
c.510G>C (p.Arg170Ser)
n.2033G>C
5g.13901396C>TCA113944235DNAH5c.1908G>A (p.Arg636=)
c.1863G>A (p.Arg621=)
n.2115G>A
c.2016G>A (p.Arg672=)
c.921G>A (p.Arg307=)
c.510G>A (p.Arg170=)
n.2033G>A
 dbSNP COSMIC
5g.13901397C>ACA359205515DNAH5c.1907G>T (p.Arg636Met)
c.1862G>T (p.Arg621Met)
n.2114G>T
c.2015G>T (p.Arg672Met)
c.920G>T (p.Arg307Met)
c.509G>T (p.Arg170Met)
n.2032G>T
 COSMIC
5g.13901397C>GCA359205519DNAH5c.1907G>C (p.Arg636Thr)
c.1862G>C (p.Arg621Thr)
n.2114G>C
c.2015G>C (p.Arg672Thr)
c.920G>C (p.Arg307Thr)
c.509G>C (p.Arg170Thr)
n.2032G>C
5g.13901397C>TCA359205521DNAH5c.1907G>A (p.Arg636Lys)
c.1862G>A (p.Arg621Lys)
n.2114G>A
c.2015G>A (p.Arg672Lys)
c.920G>A (p.Arg307Lys)
c.509G>A (p.Arg170Lys)
n.2032G>A
5g.13901398T>ACA359205523DNAH5c.1906A>T (p.Arg636Trp)
c.1861A>T (p.Arg621Trp)
n.2113A>T
c.2014A>T (p.Arg672Trp)
c.919A>T (p.Arg307Trp)
c.508A>T (p.Arg170Trp)
n.2031A>T
5g.13901398T>CCA359205526DNAH5c.1906A>G (p.Arg636Gly)
c.1861A>G (p.Arg621Gly)
n.2113A>G
c.2014A>G (p.Arg672Gly)
c.919A>G (p.Arg307Gly)
c.508A>G (p.Arg170Gly)
n.2031A>G
5g.13901398T>GCA443536782DNAH5c.1906A>C (p.Arg636=)
c.1861A>C (p.Arg621=)
n.2113A>C
c.2014A>C (p.Arg672=)
c.919A>C (p.Arg307=)
c.508A>C (p.Arg170=)
n.2031A>C
5g.13901399A=CA1528490440DNAH5c.1905T= (p.His635=)
c.1860T= (p.His620=)
n.2112T=
c.2013T= (p.His671=)
c.918T= (p.His306=)
c.507T= (p.His169=)
n.2030T=
5g.13901399A>CCA359205529DNAH5c.1905T>G (p.His635Gln)
c.1860T>G (p.His620Gln)
n.2112T>G
c.2013T>G (p.His671Gln)
c.918T>G (p.His306Gln)
c.507T>G (p.His169Gln)
n.2030T>G
5g.13901399A>GCA3204715DNAH5c.1905T>C (p.His635=)
c.1860T>C (p.His620=)
n.2112T>C
c.2013T>C (p.His671=)
c.918T>C (p.His306=)
c.507T>C (p.His169=)
n.2030T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901399A>TCA359205534DNAH5c.1905T>A (p.His635Gln)
c.1860T>A (p.His620Gln)
n.2112T>A
c.2013T>A (p.His671Gln)
c.918T>A (p.His306Gln)
c.507T>A (p.His169Gln)
n.2030T>A
 dbSNP
5g.13901400T>ACA359205535DNAH5c.1904A>T (p.His635Leu)
c.1859A>T (p.His620Leu)
n.2111A>T
c.2012A>T (p.His671Leu)
c.917A>T (p.His306Leu)
c.506A>T (p.His169Leu)
n.2029A>T
5g.13901400T>CCA3204716DNAH5c.1904A>G (p.His635Arg)
c.1859A>G (p.His620Arg)
n.2111A>G
c.2012A>G (p.His671Arg)
c.917A>G (p.His306Arg)
c.506A>G (p.His169Arg)
n.2029A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901400T>GCA359205539DNAH5c.1904A>C (p.His635Pro)
c.1859A>C (p.His620Pro)
n.2111A>C
c.2012A>C (p.His671Pro)
c.917A>C (p.His306Pro)
c.506A>C (p.His169Pro)
n.2029A>C
5g.13901400T=CA1528490441DNAH5c.1904A= (p.His635=)
c.1859A= (p.His620=)
n.2111A=
c.2012A= (p.His671=)
c.917A= (p.His306=)
c.506A= (p.His169=)
n.2029A=
5g.13901401G>ACA359205540DNAH5c.1903C>T (p.His635Tyr)
c.1858C>T (p.His620Tyr)
n.2110C>T
c.2011C>T (p.His671Tyr)
c.916C>T (p.His306Tyr)
c.505C>T (p.His169Tyr)
n.2028C>T
5g.13901401G>CCA359205542DNAH5c.1903C>G (p.His635Asp)
c.1858C>G (p.His620Asp)
n.2110C>G
c.2011C>G (p.His671Asp)
c.916C>G (p.His306Asp)
c.505C>G (p.His169Asp)
n.2028C>G
 gnomAD v4
5g.13901401G>TCA359205544DNAH5c.1903C>A (p.His635Asn)
c.1858C>A (p.His620Asn)
n.2110C>A
c.2011C>A (p.His671Asn)
c.916C>A (p.His306Asn)
c.505C>A (p.His169Asn)
n.2028C>A
5g.13901402G>ACA113944253DNAH5c.1902C>T (p.Phe634=)
c.1857C>T (p.Phe619=)
n.2109C>T
c.2010C>T (p.Phe670=)
c.915C>T (p.Phe305=)
c.504C>T (p.Phe168=)
n.2027C>T
 ClinVar dbSNP
5g.13901402G>CCA359205547DNAH5c.1902C>G (p.Phe634Leu)
c.1857C>G (p.Phe619Leu)
n.2109C>G
c.2010C>G (p.Phe670Leu)
c.915C>G (p.Phe305Leu)
c.504C>G (p.Phe168Leu)
n.2027C>G
5g.13901402G=CA1528490442DNAH5c.1902C= (p.Phe634=)
c.1857C= (p.Phe619=)
n.2109C=
c.2010C= (p.Phe670=)
c.915C= (p.Phe305=)
c.504C= (p.Phe168=)
n.2027C=
5g.13901402G>TCA359205548DNAH5c.1902C>A (p.Phe634Leu)
c.1857C>A (p.Phe619Leu)
n.2109C>A
c.2010C>A (p.Phe670Leu)
c.915C>A (p.Phe305Leu)
c.504C>A (p.Phe168Leu)
n.2027C>A
5g.13901402_13901403delCA2695204392DNAH5c.1901_1902del (p.Phe634SerfsTer2)
c.1856_1857del (p.Phe619SerfsTer2)
n.2108_2109del
c.2009_2010del (p.Phe670SerfsTer2)
c.914_915del (p.Phe305SerfsTer2)
c.503_504del (p.Phe168SerfsTer2)
n.2026_2027del
5g.13901403A>CCA359205553DNAH5c.1901T>G (p.Phe634Cys)
c.1856T>G (p.Phe619Cys)
n.2108T>G
c.2009T>G (p.Phe670Cys)
c.914T>G (p.Phe305Cys)
c.503T>G (p.Phe168Cys)
n.2026T>G
5g.13901403A>GCA359205549DNAH5c.1901T>C (p.Phe634Ser)
c.1856T>C (p.Phe619Ser)
n.2108T>C
c.2009T>C (p.Phe670Ser)
c.914T>C (p.Phe305Ser)
c.503T>C (p.Phe168Ser)
n.2026T>C
5g.13901403A>TCA359205550DNAH5c.1901T>A (p.Phe634Tyr)
c.1856T>A (p.Phe619Tyr)
n.2108T>A
c.2009T>A (p.Phe670Tyr)
c.914T>A (p.Phe305Tyr)
c.503T>A (p.Phe168Tyr)
n.2026T>A
5g.13901404A=CA1528490443DNAH5c.1900T= (p.Phe634=)
c.1855T= (p.Phe619=)
n.2107T=
c.2008T= (p.Phe670=)
c.913T= (p.Phe305=)
c.502T= (p.Phe168=)
n.2025T=
5g.13901404A>CCA359205554DNAH5c.1900T>G (p.Phe634Val)
c.1855T>G (p.Phe619Val)
n.2107T>G
c.2008T>G (p.Phe670Val)
c.913T>G (p.Phe305Val)
c.502T>G (p.Phe168Val)
n.2025T>G
 COSMIC
5g.13901404A>GCA359205555DNAH5c.1900T>C (p.Phe634Leu)
c.1855T>C (p.Phe619Leu)
n.2107T>C
c.2008T>C (p.Phe670Leu)
c.913T>C (p.Phe305Leu)
c.502T>C (p.Phe168Leu)
n.2025T>C
 ClinVar dbSNP COSMIC
5g.13901404A>TCA359205556DNAH5c.1900T>A (p.Phe634Ile)
c.1855T>A (p.Phe619Ile)
n.2107T>A
c.2008T>A (p.Phe670Ile)
c.913T>A (p.Phe305Ile)
c.502T>A (p.Phe168Ile)
n.2025T>A
5g.13901405G>ACA443536788DNAH5c.1899C>T (p.Leu633=)
c.1854C>T (p.Leu618=)
n.2106C>T
c.2007C>T (p.Leu669=)
c.912C>T (p.Leu304=)
c.501C>T (p.Leu167=)
n.2024C>T
 ClinVar gnomAD v4
5g.13901405G>CCA443536790DNAH5c.1899C>G (p.Leu633=)
c.1854C>G (p.Leu618=)
n.2106C>G
c.2007C>G (p.Leu669=)
c.912C>G (p.Leu304=)
c.501C>G (p.Leu167=)
n.2024C>G
5g.13901405G>TCA443536789DNAH5c.1899C>A (p.Leu633=)
c.1854C>A (p.Leu618=)
n.2106C>A
c.2007C>A (p.Leu669=)
c.912C>A (p.Leu304=)
c.501C>A (p.Leu167=)
n.2024C>A
5g.13901406A>CCA359205557DNAH5c.1898T>G (p.Leu633Arg)
c.1853T>G (p.Leu618Arg)
n.2105T>G
c.2006T>G (p.Leu669Arg)
c.911T>G (p.Leu304Arg)
c.500T>G (p.Leu167Arg)
n.2023T>G
5g.13901406A>GCA359205558DNAH5c.1898T>C (p.Leu633Pro)
c.1853T>C (p.Leu618Pro)
n.2105T>C
c.2006T>C (p.Leu669Pro)
c.911T>C (p.Leu304Pro)
c.500T>C (p.Leu167Pro)
n.2023T>C
5g.13901406A>TCA359205560DNAH5c.1898T>A (p.Leu633His)
c.1853T>A (p.Leu618His)
n.2105T>A
c.2006T>A (p.Leu669His)
c.911T>A (p.Leu304His)
c.500T>A (p.Leu167His)
n.2023T>A
5g.13901407G>ACA3204717DNAH5c.1897C>T (p.Leu633Phe)
c.1852C>T (p.Leu618Phe)
n.2104C>T
c.2005C>T (p.Leu669Phe)
c.910C>T (p.Leu304Phe)
c.499C>T (p.Leu167Phe)
n.2022C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901407G>CCA359205562DNAH5c.1897C>G (p.Leu633Val)
c.1852C>G (p.Leu618Val)
n.2104C>G
c.2005C>G (p.Leu669Val)
c.910C>G (p.Leu304Val)
c.499C>G (p.Leu167Val)
n.2022C>G
5g.13901407G=CA1528490444DNAH5c.1897C= (p.Leu633=)
c.1852C= (p.Leu618=)
n.2104C=
c.2005C= (p.Leu669=)
c.910C= (p.Leu304=)
c.499C= (p.Leu167=)
n.2022C=
5g.13901407G>TCA359205566DNAH5c.1897C>A (p.Leu633Ile)
c.1852C>A (p.Leu618Ile)
n.2104C>A
c.2005C>A (p.Leu669Ile)
c.910C>A (p.Leu304Ile)
c.499C>A (p.Leu167Ile)
n.2022C>A
 COSMIC
5g.13901408C>ACA359205575DNAH5c.1896G>T (p.Gln632His)
c.1851G>T (p.Gln617His)
n.2103G>T
c.2004G>T (p.Gln668His)
c.909G>T (p.Gln303His)
c.498G>T (p.Gln166His)
n.2021G>T
 ClinVar dbSNP
5g.13901408C=CA1528490445DNAH5c.1896G= (p.Gln632=)
c.1851G= (p.Gln617=)
n.2103G=
c.2004G= (p.Gln668=)
c.909G= (p.Gln303=)
c.498G= (p.Gln166=)
n.2021G=
5g.13901408C>GCA3204718DNAH5c.1896G>C (p.Gln632His)
c.1851G>C (p.Gln617His)
n.2103G>C
c.2004G>C (p.Gln668His)
c.909G>C (p.Gln303His)
c.498G>C (p.Gln166His)
n.2021G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901408C>TCA443536795DNAH5c.1896G>A (p.Gln632=)
c.1851G>A (p.Gln617=)
n.2103G>A
c.2004G>A (p.Gln668=)
c.909G>A (p.Gln303=)
c.498G>A (p.Gln166=)
n.2021G>A
 ClinVar dbSNP
5g.13901409T>ACA359205600DNAH5c.1895A>T (p.Gln632Leu)
c.1850A>T (p.Gln617Leu)
n.2102A>T
c.2003A>T (p.Gln668Leu)
c.908A>T (p.Gln303Leu)
c.497A>T (p.Gln166Leu)
n.2020A>T
5g.13901409T>CCA359205595DNAH5c.1895A>G (p.Gln632Arg)
c.1850A>G (p.Gln617Arg)
n.2102A>G
c.2003A>G (p.Gln668Arg)
c.908A>G (p.Gln303Arg)
c.497A>G (p.Gln166Arg)
n.2020A>G
5g.13901409T>GCA359205583DNAH5c.1895A>C (p.Gln632Pro)
c.1850A>C (p.Gln617Pro)
n.2102A>C
c.2003A>C (p.Gln668Pro)
c.908A>C (p.Gln303Pro)
c.497A>C (p.Gln166Pro)
n.2020A>C
5g.13901410G>ACA359205609DNAH5c.1894C>T (p.Gln632Ter)
c.1849C>T (p.Gln617Ter)
n.2101C>T
c.2002C>T (p.Gln668Ter)
c.907C>T (p.Gln303Ter)
c.496C>T (p.Gln166Ter)
n.2019C>T
5g.13901410G>CCA359205628DNAH5c.1894C>G (p.Gln632Glu)
c.1849C>G (p.Gln617Glu)
n.2101C>G
c.2002C>G (p.Gln668Glu)
c.907C>G (p.Gln303Glu)
c.496C>G (p.Gln166Glu)
n.2019C>G
5g.13901410G>TCA359205625DNAH5c.1894C>A (p.Gln632Lys)
c.1849C>A (p.Gln617Lys)
n.2101C>A
c.2002C>A (p.Gln668Lys)
c.907C>A (p.Gln303Lys)
c.496C>A (p.Gln166Lys)
n.2019C>A
5g.13901411G>ACA443536797DNAH5c.1893C>T (p.Arg631=)
c.1848C>T (p.Arg616=)
n.2100C>T
c.2001C>T (p.Arg667=)
c.906C>T (p.Arg302=)
c.495C>T (p.Arg165=)
n.2018C>T
5g.13901411G>CCA443536798DNAH5c.1893C>G (p.Arg631=)
c.1848C>G (p.Arg616=)
n.2100C>G
c.2001C>G (p.Arg667=)
c.906C>G (p.Arg302=)
c.495C>G (p.Arg165=)
n.2018C>G
5g.13901411G>TCA443536799DNAH5c.1893C>A (p.Arg631=)
c.1848C>A (p.Arg616=)
n.2100C>A
c.2001C>A (p.Arg667=)
c.906C>A (p.Arg302=)
c.495C>A (p.Arg165=)
n.2018C>A
5g.13901412C>ACA359205637DNAH5c.1892G>T (p.Arg631Leu)
c.1847G>T (p.Arg616Leu)
n.2099G>T
c.2000G>T (p.Arg667Leu)
c.905G>T (p.Arg302Leu)
c.494G>T (p.Arg165Leu)
n.2017G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13901412C=CA1528490446DNAH5c.1892G= (p.Arg631=)
c.1847G= (p.Arg616=)
n.2099G=
c.2000G= (p.Arg667=)
c.905G= (p.Arg302=)
c.494G= (p.Arg165=)
n.2017G=
5g.13901412C>GCA359205639DNAH5c.1892G>C (p.Arg631Pro)
c.1847G>C (p.Arg616Pro)
n.2099G>C
c.2000G>C (p.Arg667Pro)
c.905G>C (p.Arg302Pro)
c.494G>C (p.Arg165Pro)
n.2017G>C
5g.13901412C>TCA3204719DNAH5c.1892G>A (p.Arg631His)
c.1847G>A (p.Arg616His)
n.2099G>A
c.2000G>A (p.Arg667His)
c.905G>A (p.Arg302His)
c.494G>A (p.Arg165His)
n.2017G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901413G>ACA3204720DNAH5c.1891C>T (p.Arg631Cys)
c.1846C>T (p.Arg616Cys)
n.2098C>T
c.1999C>T (p.Arg667Cys)
c.904C>T (p.Arg302Cys)
c.493C>T (p.Arg165Cys)
n.2016C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901413G>CCA359205643DNAH5c.1891C>G (p.Arg631Gly)
c.1846C>G (p.Arg616Gly)
n.2098C>G
c.1999C>G (p.Arg667Gly)
c.904C>G (p.Arg302Gly)
c.493C>G (p.Arg165Gly)
n.2016C>G
5g.13901413G=CA1528490447DNAH5c.1891C= (p.Arg631=)
c.1846C= (p.Arg616=)
n.2098C=
c.1999C= (p.Arg667=)
c.904C= (p.Arg302=)
c.493C= (p.Arg165=)
n.2016C=
5g.13901413G>TCA359205644DNAH5c.1891C>A (p.Arg631Ser)
c.1846C>A (p.Arg616Ser)
n.2098C>A
c.1999C>A (p.Arg667Ser)
c.904C>A (p.Arg302Ser)
c.493C>A (p.Arg165Ser)
n.2016C>A
 gnomAD v4
5g.13901414G>ACA443536804DNAH5c.1890C>T (p.Ala630=)
c.1845C>T (p.Ala615=)
n.2097C>T
c.1998C>T (p.Ala666=)
c.903C>T (p.Ala301=)
c.492C>T (p.Ala164=)
n.2015C>T
 ClinVar dbSNP
5g.13901414G>CCA443536801DNAH5c.1890C>G (p.Ala630=)
c.1845C>G (p.Ala615=)
n.2097C>G
c.1998C>G (p.Ala666=)
c.903C>G (p.Ala301=)
c.492C>G (p.Ala164=)
n.2015C>G
5g.13901414G=CA1528490448DNAH5c.1890C= (p.Ala630=)
c.1845C= (p.Ala615=)
n.2097C=
c.1998C= (p.Ala666=)
c.903C= (p.Ala301=)
c.492C= (p.Ala164=)
n.2015C=
5g.13901414G>TCA443536802DNAH5c.1890C>A (p.Ala630=)
c.1845C>A (p.Ala615=)
n.2097C>A
c.1998C>A (p.Ala666=)
c.903C>A (p.Ala301=)
c.492C>A (p.Ala164=)
n.2015C>A
5g.13901415G>ACA3204721DNAH5c.1889C>T (p.Ala630Val)
c.1844C>T (p.Ala615Val)
n.2096C>T
c.1997C>T (p.Ala666Val)
c.902C>T (p.Ala301Val)
c.491C>T (p.Ala164Val)
n.2014C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901415G>CCA359205650DNAH5c.1889C>G (p.Ala630Gly)
c.1844C>G (p.Ala615Gly)
n.2096C>G
c.1997C>G (p.Ala666Gly)
c.902C>G (p.Ala301Gly)
c.491C>G (p.Ala164Gly)
n.2014C>G
5g.13901415G=CA1528490449DNAH5c.1889C= (p.Ala630=)
c.1844C= (p.Ala615=)
n.2096C=
c.1997C= (p.Ala666=)
c.902C= (p.Ala301=)
c.491C= (p.Ala164=)
n.2014C=
5g.13901415G>TCA359205658DNAH5c.1889C>A (p.Ala630Asp)
c.1844C>A (p.Ala615Asp)
n.2096C>A
c.1997C>A (p.Ala666Asp)
c.902C>A (p.Ala301Asp)
c.491C>A (p.Ala164Asp)
n.2014C>A
 gnomAD v4
5g.13901416C>ACA359205661DNAH5c.1888G>T (p.Ala630Ser)
c.1843G>T (p.Ala615Ser)
n.2095G>T
c.1996G>T (p.Ala666Ser)
c.901G>T (p.Ala301Ser)
c.490G>T (p.Ala164Ser)
n.2013G>T
5g.13901416C>GCA359205668DNAH5c.1888G>C (p.Ala630Pro)
c.1843G>C (p.Ala615Pro)
n.2095G>C
c.1996G>C (p.Ala666Pro)
c.901G>C (p.Ala301Pro)
c.490G>C (p.Ala164Pro)
n.2013G>C
5g.13901416C>TCA359205670DNAH5c.1888G>A (p.Ala630Thr)
c.1843G>A (p.Ala615Thr)
n.2095G>A
c.1996G>A (p.Ala666Thr)
c.901G>A (p.Ala301Thr)
c.490G>A (p.Ala164Thr)
n.2013G>A
5g.13901417C>ACA359205687DNAH5c.1887G>T (p.Trp629Cys)
c.1842G>T (p.Trp614Cys)
n.2094G>T
c.1995G>T (p.Trp665Cys)
c.900G>T (p.Trp300Cys)
c.489G>T (p.Trp163Cys)
n.2012G>T
5g.13901417C>GCA359205672DNAH5c.1887G>C (p.Trp629Cys)
c.1842G>C (p.Trp614Cys)
n.2094G>C
c.1995G>C (p.Trp665Cys)
c.900G>C (p.Trp300Cys)
c.489G>C (p.Trp163Cys)
n.2012G>C
5g.13901417C>TCA359205684DNAH5c.1887G>A (p.Trp629Ter)
c.1842G>A (p.Trp614Ter)
n.2094G>A
c.1995G>A (p.Trp665Ter)
c.900G>A (p.Trp300Ter)
c.489G>A (p.Trp163Ter)
n.2012G>A
 gnomAD v4
5g.13901418C>ACA359205690DNAH5c.1886G>T (p.Trp629Leu)
c.1841G>T (p.Trp614Leu)
n.2093G>T
c.1994G>T (p.Trp665Leu)
c.899G>T (p.Trp300Leu)
c.488G>T (p.Trp163Leu)
n.2011G>T
5g.13901418C>GCA359205693DNAH5c.1886G>C (p.Trp629Ser)
c.1841G>C (p.Trp614Ser)
n.2093G>C
c.1994G>C (p.Trp665Ser)
c.899G>C (p.Trp300Ser)
c.488G>C (p.Trp163Ser)
n.2011G>C
5g.13901418C>TCA359205695DNAH5c.1886G>A (p.Trp629Ter)
c.1841G>A (p.Trp614Ter)
n.2093G>A
c.1994G>A (p.Trp665Ter)
c.899G>A (p.Trp300Ter)
c.488G>A (p.Trp163Ter)
n.2011G>A
5g.13901419A>CCA359205698DNAH5c.1885T>G (p.Trp629Gly)
c.1840T>G (p.Trp614Gly)
n.2092T>G
c.1993T>G (p.Trp665Gly)
c.898T>G (p.Trp300Gly)
c.487T>G (p.Trp163Gly)
n.2010T>G
5g.13901419A>GCA359205702DNAH5c.1885T>C (p.Trp629Arg)
c.1840T>C (p.Trp614Arg)
n.2092T>C
c.1993T>C (p.Trp665Arg)
c.898T>C (p.Trp300Arg)
c.487T>C (p.Trp163Arg)
n.2010T>C
5g.13901419A>TCA359205708DNAH5c.1885T>A (p.Trp629Arg)
c.1840T>A (p.Trp614Arg)
n.2092T>A
c.1993T>A (p.Trp665Arg)
c.898T>A (p.Trp300Arg)
c.487T>A (p.Trp163Arg)
n.2010T>A
5g.13901420C>ACA359205711DNAH5c.1884G>T (p.Leu628Phe)
c.1839G>T (p.Leu613Phe)
n.2091G>T
c.1992G>T (p.Leu664Phe)
c.897G>T (p.Leu299Phe)
c.486G>T (p.Leu162Phe)
n.2009G>T
 gnomAD v4
5g.13901420C=CA1528490450DNAH5c.1884G= (p.Leu628=)
c.1839G= (p.Leu613=)
n.2091G=
c.1992G= (p.Leu664=)
c.897G= (p.Leu299=)
c.486G= (p.Leu162=)
n.2009G=
5g.13901420C>GCA113944338DNAH5c.1884G>C (p.Leu628Phe)
c.1839G>C (p.Leu613Phe)
n.2091G>C
c.1992G>C (p.Leu664Phe)
c.897G>C (p.Leu299Phe)
c.486G>C (p.Leu162Phe)
n.2009G>C
 dbSNP
5g.13901420C>TCA3204722DNAH5c.1884G>A (p.Leu628=)
c.1839G>A (p.Leu613=)
n.2091G>A
c.1992G>A (p.Leu664=)
c.897G>A (p.Leu299=)
c.486G>A (p.Leu162=)
n.2009G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901421A>CCA359205713DNAH5c.1883T>G (p.Leu628Trp)
c.1838T>G (p.Leu613Trp)
n.2090T>G
c.1991T>G (p.Leu664Trp)
c.896T>G (p.Leu299Trp)
c.485T>G (p.Leu162Trp)
n.2008T>G
5g.13901421A>GCA359205715DNAH5c.1883T>C (p.Leu628Ser)
c.1838T>C (p.Leu613Ser)
n.2090T>C
c.1991T>C (p.Leu664Ser)
c.896T>C (p.Leu299Ser)
c.485T>C (p.Leu162Ser)
n.2008T>C
5g.13901421A>TCA359205717DNAH5c.1883T>A (p.Leu628Ter)
c.1838T>A (p.Leu613Ter)
n.2090T>A
c.1991T>A (p.Leu664Ter)
c.896T>A (p.Leu299Ter)
c.485T>A (p.Leu162Ter)
n.2008T>A
5g.13901422A=CA1528490451DNAH5c.1882T= (p.Leu628=)
c.1837T= (p.Leu613=)
n.2089T=
c.1990T= (p.Leu664=)
c.895T= (p.Leu299=)
c.484T= (p.Leu162=)
n.2007T=
5g.13901422A>CCA3204723DNAH5c.1882T>G (p.Leu628Val)
c.1837T>G (p.Leu613Val)
n.2089T>G
c.1990T>G (p.Leu664Val)
c.895T>G (p.Leu299Val)
c.484T>G (p.Leu162Val)
n.2007T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901422A>GCA443536811DNAH5c.1882T>C (p.Leu628=)
c.1837T>C (p.Leu613=)
n.2089T>C
c.1990T>C (p.Leu664=)
c.895T>C (p.Leu299=)
c.484T>C (p.Leu162=)
n.2007T>C
 ClinVar dbSNP gnomAD v2
5g.13901422A>TCA359205719DNAH5c.1882T>A (p.Leu628Met)
c.1837T>A (p.Leu613Met)
n.2089T>A
c.1990T>A (p.Leu664Met)
c.895T>A (p.Leu299Met)
c.484T>A (p.Leu162Met)
n.2007T>A
5g.13901423A>CCA359205727DNAH5c.1881T>G (p.Ile627Met)
c.1836T>G (p.Ile612Met)
n.2088T>G
c.1989T>G (p.Ile663Met)
c.894T>G (p.Ile298Met)
c.483T>G (p.Ile161Met)
n.2006T>G
5g.13901423A>GCA443536812DNAH5c.1881T>C (p.Ile627=)
c.1836T>C (p.Ile612=)
n.2088T>C
c.1989T>C (p.Ile663=)
c.894T>C (p.Ile298=)
c.483T>C (p.Ile161=)
n.2006T>C
5g.13901423A>TCA443536813DNAH5c.1881T>A (p.Ile627=)
c.1836T>A (p.Ile612=)
n.2088T>A
c.1989T>A (p.Ile663=)
c.894T>A (p.Ile298=)
c.483T>A (p.Ile161=)
n.2006T>A
5g.13901424A>CCA359205728DNAH5c.1880T>G (p.Ile627Ser)
c.1835T>G (p.Ile612Ser)
n.2087T>G
c.1988T>G (p.Ile663Ser)
c.893T>G (p.Ile298Ser)
c.482T>G (p.Ile161Ser)
n.2005T>G
5g.13901424A>GCA359205729DNAH5c.1880T>C (p.Ile627Thr)
c.1835T>C (p.Ile612Thr)
n.2087T>C
c.1988T>C (p.Ile663Thr)
c.893T>C (p.Ile298Thr)
c.482T>C (p.Ile161Thr)
n.2005T>C
5g.13901424A>TCA359205730DNAH5c.1880T>A (p.Ile627Asn)
c.1835T>A (p.Ile612Asn)
n.2087T>A
c.1988T>A (p.Ile663Asn)
c.893T>A (p.Ile298Asn)
c.482T>A (p.Ile161Asn)
n.2005T>A
5g.13901425T>ACA359205732DNAH5c.1879A>T (p.Ile627Phe)
c.1834A>T (p.Ile612Phe)
n.2086A>T
c.1987A>T (p.Ile663Phe)
c.892A>T (p.Ile298Phe)
c.481A>T (p.Ile161Phe)
n.2004A>T
5g.13901425T>CCA359205733DNAH5c.1879A>G (p.Ile627Val)
c.1834A>G (p.Ile612Val)
n.2086A>G
c.1987A>G (p.Ile663Val)
c.892A>G (p.Ile298Val)
c.481A>G (p.Ile161Val)
n.2004A>G
5g.13901425T>GCA359205735DNAH5c.1879A>C (p.Ile627Leu)
c.1834A>C (p.Ile612Leu)
n.2086A>C
c.1987A>C (p.Ile663Leu)
c.892A>C (p.Ile298Leu)
c.481A>C (p.Ile161Leu)
n.2004A>C
5g.13901426C>ACA359205737DNAH5c.1878G>T (p.Lys626Asn)
c.1833G>T (p.Lys611Asn)
n.2085G>T
c.1986G>T (p.Lys662Asn)
c.891G>T (p.Lys297Asn)
c.480G>T (p.Lys160Asn)
n.2003G>T
 gnomAD v4
5g.13901426C=CA1528490452DNAH5c.1878G= (p.Lys626=)
c.1833G= (p.Lys611=)
n.2085G=
c.1986G= (p.Lys662=)
c.891G= (p.Lys297=)
c.480G= (p.Lys160=)
n.2003G=
5g.13901426C>GCA359205738DNAH5c.1878G>C (p.Lys626Asn)
c.1833G>C (p.Lys611Asn)
n.2085G>C
c.1986G>C (p.Lys662Asn)
c.891G>C (p.Lys297Asn)
c.480G>C (p.Lys160Asn)
n.2003G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901426C>TCA443536818DNAH5c.1878G>A (p.Lys626=)
c.1833G>A (p.Lys611=)
n.2085G>A
c.1986G>A (p.Lys662=)
c.891G>A (p.Lys297=)
c.480G>A (p.Lys160=)
n.2003G>A
 COSMIC
5g.13901427T>ACA359205739DNAH5c.1877A>T (p.Lys626Met)
c.1832A>T (p.Lys611Met)
n.2084A>T
c.1985A>T (p.Lys662Met)
c.890A>T (p.Lys297Met)
c.479A>T (p.Lys160Met)
n.2002A>T
5g.13901427T>CCA113944368DNAH5c.1877A>G (p.Lys626Arg)
c.1832A>G (p.Lys611Arg)
n.2084A>G
c.1985A>G (p.Lys662Arg)
c.890A>G (p.Lys297Arg)
c.479A>G (p.Lys160Arg)
n.2002A>G
 dbSNP gnomAD v4
5g.13901427T>GCA359205740DNAH5c.1877A>C (p.Lys626Thr)
c.1832A>C (p.Lys611Thr)
n.2084A>C
c.1985A>C (p.Lys662Thr)
c.890A>C (p.Lys297Thr)
c.479A>C (p.Lys160Thr)
n.2002A>C
5g.13901427T=CA1528490453DNAH5c.1877A= (p.Lys626=)
c.1832A= (p.Lys611=)
n.2084A=
c.1985A= (p.Lys662=)
c.890A= (p.Lys297=)
c.479A= (p.Lys160=)
n.2002A=
5g.13901428T>ACA359205745DNAH5c.1876A>T (p.Lys626Ter)
c.1831A>T (p.Lys611Ter)
n.2083A>T
c.1984A>T (p.Lys662Ter)
c.889A>T (p.Lys297Ter)
c.478A>T (p.Lys160Ter)
n.2001A>T
5g.13901428T>CCA359205744DNAH5c.1876A>G (p.Lys626Glu)
c.1831A>G (p.Lys611Glu)
n.2083A>G
c.1984A>G (p.Lys662Glu)
c.889A>G (p.Lys297Glu)
c.478A>G (p.Lys160Glu)
n.2001A>G
5g.13901428T>GCA359205742DNAH5c.1876A>C (p.Lys626Gln)
c.1831A>C (p.Lys611Gln)
n.2083A>C
c.1984A>C (p.Lys662Gln)
c.889A>C (p.Lys297Gln)
c.478A>C (p.Lys160Gln)
n.2001A>C
5g.13901429T>ACA443536822DNAH5c.1875A>T (p.Gly625=)
c.1830A>T (p.Gly610=)
n.2082A>T
c.1983A>T (p.Gly661=)
c.888A>T (p.Gly296=)
c.477A>T (p.Gly159=)
n.2000A>T
5g.13901429T>CCA3204724DNAH5c.1875A>G (p.Gly625=)
c.1830A>G (p.Gly610=)
n.2082A>G
c.1983A>G (p.Gly661=)
c.888A>G (p.Gly296=)
c.477A>G (p.Gly159=)
n.2000A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901429T>GCA443536824DNAH5c.1875A>C (p.Gly625=)
c.1830A>C (p.Gly610=)
n.2082A>C
c.1983A>C (p.Gly661=)
c.888A>C (p.Gly296=)
c.477A>C (p.Gly159=)
n.2000A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13901429T=CA1528490454DNAH5c.1875A= (p.Gly625=)
c.1830A= (p.Gly610=)
n.2082A=
c.1983A= (p.Gly661=)
c.888A= (p.Gly296=)
c.477A= (p.Gly159=)
n.2000A=
5g.13901430C>ACA359205752DNAH5c.1874G>T (p.Gly625Val)
c.1829G>T (p.Gly610Val)
n.2081G>T
c.1982G>T (p.Gly661Val)
c.887G>T (p.Gly296Val)
c.476G>T (p.Gly159Val)
n.1999G>T
5g.13901430C>GCA359205771DNAH5c.1874G>C (p.Gly625Ala)
c.1829G>C (p.Gly610Ala)
n.2081G>C
c.1982G>C (p.Gly661Ala)
c.887G>C (p.Gly296Ala)
c.476G>C (p.Gly159Ala)
n.1999G>C
5g.13901430C>TCA359205774DNAH5c.1874G>A (p.Gly625Glu)
c.1829G>A (p.Gly610Glu)
n.2081G>A
c.1982G>A (p.Gly661Glu)
c.887G>A (p.Gly296Glu)
c.476G>A (p.Gly159Glu)
n.1999G>A
 COSMIC
5g.13901431C>ACA359205781DNAH5c.1873G>T (p.Gly625Ter)
c.1828G>T (p.Gly610Ter)
n.2080G>T
c.1981G>T (p.Gly661Ter)
c.886G>T (p.Gly296Ter)
c.475G>T (p.Gly159Ter)
n.1998G>T
5g.13901431C>GCA359205782DNAH5c.1873G>C (p.Gly625Arg)
c.1828G>C (p.Gly610Arg)
n.2080G>C
c.1981G>C (p.Gly661Arg)
c.886G>C (p.Gly296Arg)
c.475G>C (p.Gly159Arg)
n.1998G>C
5g.13901431C>TCA359205788DNAH5c.1873G>A (p.Gly625Arg)
c.1828G>A (p.Gly610Arg)
n.2080G>A
c.1981G>A (p.Gly661Arg)
c.886G>A (p.Gly296Arg)
c.475G>A (p.Gly159Arg)
n.1998G>A
 COSMIC
5g.13901432A>CCA443536827DNAH5c.1872T>G (p.Ala624=)
c.1827T>G (p.Ala609=)
n.2079T>G
c.1980T>G (p.Ala660=)
c.885T>G (p.Ala295=)
c.474T>G (p.Ala158=)
n.1997T>G
 ClinVar gnomAD v4
5g.13901432A>GCA443536828DNAH5c.1872T>C (p.Ala624=)
c.1827T>C (p.Ala609=)
n.2079T>C
c.1980T>C (p.Ala660=)
c.885T>C (p.Ala295=)
c.474T>C (p.Ala158=)
n.1997T>C
5g.13901432A>TCA443536829DNAH5c.1872T>A (p.Ala624=)
c.1827T>A (p.Ala609=)
n.2079T>A
c.1980T>A (p.Ala660=)
c.885T>A (p.Ala295=)
c.474T>A (p.Ala158=)
n.1997T>A
5g.13901433G>ACA3204725DNAH5c.1871C>T (p.Ala624Val)
c.1826C>T (p.Ala609Val)
n.2078C>T
c.1979C>T (p.Ala660Val)
c.884C>T (p.Ala295Val)
c.473C>T (p.Ala158Val)
n.1996C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901433G>CCA359205793DNAH5c.1871C>G (p.Ala624Gly)
c.1826C>G (p.Ala609Gly)
n.2078C>G
c.1979C>G (p.Ala660Gly)
c.884C>G (p.Ala295Gly)
c.473C>G (p.Ala158Gly)
n.1996C>G
5g.13901433G=CA1528490455DNAH5c.1871C= (p.Ala624=)
c.1826C= (p.Ala609=)
n.2078C=
c.1979C= (p.Ala660=)
c.884C= (p.Ala295=)
c.473C= (p.Ala158=)
n.1996C=
5g.13901433G>TCA359205794DNAH5c.1871C>A (p.Ala624Asp)
c.1826C>A (p.Ala609Asp)
n.2078C>A
c.1979C>A (p.Ala660Asp)
c.884C>A (p.Ala295Asp)
c.473C>A (p.Ala158Asp)
n.1996C>A
5g.13901434C>ACA359205795DNAH5c.1870G>T (p.Ala624Ser)
c.1825G>T (p.Ala609Ser)
n.2077G>T
c.1978G>T (p.Ala660Ser)
c.883G>T (p.Ala295Ser)
c.472G>T (p.Ala158Ser)
n.1995G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13901434C=CA1528490456DNAH5c.1870G= (p.Ala624=)
c.1825G= (p.Ala609=)
n.2077G=
c.1978G= (p.Ala660=)
c.883G= (p.Ala295=)
c.472G= (p.Ala158=)
n.1995G=
5g.13901434C>GCA359205796DNAH5c.1870G>C (p.Ala624Pro)
c.1825G>C (p.Ala609Pro)
n.2077G>C
c.1978G>C (p.Ala660Pro)
c.883G>C (p.Ala295Pro)
c.472G>C (p.Ala158Pro)
n.1995G>C
5g.13901434C>TCA10622891DNAH5c.1870G>A (p.Ala624Thr)
c.1825G>A (p.Ala609Thr)
n.2077G>A
c.1978G>A (p.Ala660Thr)
c.883G>A (p.Ala295Thr)
c.472G>A (p.Ala158Thr)
n.1995G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901435G>ACA3204726DNAH5c.1869C>T (p.Ile623=)
c.1824C>T (p.Ile608=)
n.2076C>T
c.1977C>T (p.Ile659=)
c.882C>T (p.Ile294=)
c.471C>T (p.Ile157=)
n.1994C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901435G>CCA359205799DNAH5c.1869C>G (p.Ile623Met)
c.1824C>G (p.Ile608Met)
n.2076C>G
c.1977C>G (p.Ile659Met)
c.882C>G (p.Ile294Met)
c.471C>G (p.Ile157Met)
n.1994C>G
5g.13901435G=CA1528490457DNAH5c.1869C= (p.Ile623=)
c.1824C= (p.Ile608=)
n.2076C=
c.1977C= (p.Ile659=)
c.882C= (p.Ile294=)
c.471C= (p.Ile157=)
n.1994C=
5g.13901435G>TCA443536832DNAH5c.1869C>A (p.Ile623=)
c.1824C>A (p.Ile608=)
n.2076C>A
c.1977C>A (p.Ile659=)
c.882C>A (p.Ile294=)
c.471C>A (p.Ile157=)
n.1994C>A
 dbSNP gnomAD v2
5g.13901436A=CA1528490458DNAH5c.1868T= (p.Ile623=)
c.1823T= (p.Ile608=)
n.2075T=
c.1976T= (p.Ile659=)
c.881T= (p.Ile294=)
c.470T= (p.Ile157=)
n.1993T=
5g.13901436A>CCA359205801DNAH5c.1868T>G (p.Ile623Ser)
c.1823T>G (p.Ile608Ser)
n.2075T>G
c.1976T>G (p.Ile659Ser)
c.881T>G (p.Ile294Ser)
c.470T>G (p.Ile157Ser)
n.1993T>G
5g.13901436A>GCA359205810DNAH5c.1868T>C (p.Ile623Thr)
c.1823T>C (p.Ile608Thr)
n.2075T>C
c.1976T>C (p.Ile659Thr)
c.881T>C (p.Ile294Thr)
c.470T>C (p.Ile157Thr)
n.1993T>C
 dbSNP
5g.13901436A>TCA359205803DNAH5c.1868T>A (p.Ile623Asn)
c.1823T>A (p.Ile608Asn)
n.2075T>A
c.1976T>A (p.Ile659Asn)
c.881T>A (p.Ile294Asn)
c.470T>A (p.Ile157Asn)
n.1993T>A
5g.13901437T>ACA359205823DNAH5c.1867A>T (p.Ile623Phe)
c.1822A>T (p.Ile608Phe)
n.2074A>T
c.1975A>T (p.Ile659Phe)
c.880A>T (p.Ile294Phe)
c.469A>T (p.Ile157Phe)
n.1992A>T
5g.13901437T>CCA359205837DNAH5c.1867A>G (p.Ile623Val)
c.1822A>G (p.Ile608Val)
n.2074A>G
c.1975A>G (p.Ile659Val)
c.880A>G (p.Ile294Val)
c.469A>G (p.Ile157Val)
n.1992A>G
 gnomAD v4
5g.13901437T>GCA359205833DNAH5c.1867A>C (p.Ile623Leu)
c.1822A>C (p.Ile608Leu)
n.2074A>C
c.1975A>C (p.Ile659Leu)
c.880A>C (p.Ile294Leu)
c.469A>C (p.Ile157Leu)
n.1992A>C
5g.13901438G>ACA443536834DNAH5c.1866C>T (p.Pro622=)
c.1821C>T (p.Pro607=)
n.2073C>T
c.1974C>T (p.Pro658=)
c.879C>T (p.Pro293=)
c.468C>T (p.Pro156=)
n.1991C>T
 gnomAD v4
5g.13901438G>CCA443536835DNAH5c.1866C>G (p.Pro622=)
c.1821C>G (p.Pro607=)
n.2073C>G
c.1974C>G (p.Pro658=)
c.879C>G (p.Pro293=)
c.468C>G (p.Pro156=)
n.1991C>G
5g.13901438G>TCA443536836DNAH5c.1866C>A (p.Pro622=)
c.1821C>A (p.Pro607=)
n.2073C>A
c.1974C>A (p.Pro658=)
c.879C>A (p.Pro293=)
c.468C>A (p.Pro156=)
n.1991C>A
5g.13901439G>ACA359205838DNAH5c.1865C>T (p.Pro622Leu)
c.1820C>T (p.Pro607Leu)
n.2072C>T
c.1973C>T (p.Pro658Leu)
c.878C>T (p.Pro293Leu)
c.467C>T (p.Pro156Leu)
n.1990C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13901439G>CCA359205843DNAH5c.1865C>G (p.Pro622Arg)
c.1820C>G (p.Pro607Arg)
n.2072C>G
c.1973C>G (p.Pro658Arg)
c.878C>G (p.Pro293Arg)
c.467C>G (p.Pro156Arg)
n.1990C>G
5g.13901439G=CA1528490459DNAH5c.1865C= (p.Pro622=)
c.1820C= (p.Pro607=)
n.2072C=
c.1973C= (p.Pro658=)
c.878C= (p.Pro293=)
c.467C= (p.Pro156=)
n.1990C=
5g.13901439G>TCA359205846DNAH5c.1865C>A (p.Pro622His)
c.1820C>A (p.Pro607His)
n.2072C>A
c.1973C>A (p.Pro658His)
c.878C>A (p.Pro293His)
c.467C>A (p.Pro156His)
n.1990C>A
5g.13901440G>ACA359205848DNAH5c.1864C>T (p.Pro622Ser)
c.1819C>T (p.Pro607Ser)
n.2071C>T
c.1972C>T (p.Pro658Ser)
c.877C>T (p.Pro293Ser)
c.466C>T (p.Pro156Ser)
n.1989C>T
 COSMIC
5g.13901440G>CCA359205851DNAH5c.1864C>G (p.Pro622Ala)
c.1819C>G (p.Pro607Ala)
n.2071C>G
c.1972C>G (p.Pro658Ala)
c.877C>G (p.Pro293Ala)
c.466C>G (p.Pro156Ala)
n.1989C>G
5g.13901440G>TCA359205855DNAH5c.1864C>A (p.Pro622Thr)
c.1819C>A (p.Pro607Thr)
n.2071C>A
c.1972C>A (p.Pro658Thr)
c.877C>A (p.Pro293Thr)
c.466C>A (p.Pro156Thr)
n.1989C>A
 COSMIC
5g.13901441A>CCA443536839DNAH5c.1863T>G (p.Pro621=)
c.1818T>G (p.Pro606=)
n.2070T>G
c.1971T>G (p.Pro657=)
c.876T>G (p.Pro292=)
c.465T>G (p.Pro155=)
n.1988T>G
5g.13901441A>GCA443536838DNAH5c.1863T>C (p.Pro621=)
c.1818T>C (p.Pro606=)
n.2070T>C
c.1971T>C (p.Pro657=)
c.876T>C (p.Pro292=)
c.465T>C (p.Pro155=)
n.1988T>C
5g.13901441A>TCA443536840DNAH5c.1863T>A (p.Pro621=)
c.1818T>A (p.Pro606=)
n.2070T>A
c.1971T>A (p.Pro657=)
c.876T>A (p.Pro292=)
c.465T>A (p.Pro155=)
n.1988T>A
5g.13901442G>ACA359205863DNAH5c.1862C>T (p.Pro621Leu)
c.1817C>T (p.Pro606Leu)
n.2069C>T
c.1970C>T (p.Pro657Leu)
c.875C>T (p.Pro292Leu)
c.464C>T (p.Pro155Leu)
n.1987C>T
5g.13901442G>CCA359205860DNAH5c.1862C>G (p.Pro621Arg)
c.1817C>G (p.Pro606Arg)
n.2069C>G
c.1970C>G (p.Pro657Arg)
c.875C>G (p.Pro292Arg)
c.464C>G (p.Pro155Arg)
n.1987C>G
5g.13901442G>TCA359205861DNAH5c.1862C>A (p.Pro621His)
c.1817C>A (p.Pro606His)
n.2069C>A
c.1970C>A (p.Pro657His)
c.875C>A (p.Pro292His)
c.464C>A (p.Pro155His)
n.1987C>A
5g.13901443G>ACA359205866DNAH5c.1861C>T (p.Pro621Ser)
c.1816C>T (p.Pro606Ser)
n.2068C>T
c.1969C>T (p.Pro657Ser)
c.874C>T (p.Pro292Ser)
c.463C>T (p.Pro155Ser)
n.1986C>T
 gnomAD v4
5g.13901443G>CCA359205871DNAH5c.1861C>G (p.Pro621Ala)
c.1816C>G (p.Pro606Ala)
n.2068C>G
c.1969C>G (p.Pro657Ala)
c.874C>G (p.Pro292Ala)
c.463C>G (p.Pro155Ala)
n.1986C>G
5g.13901443G>TCA359205893DNAH5c.1861C>A (p.Pro621Thr)
c.1816C>A (p.Pro606Thr)
n.2068C>A
c.1969C>A (p.Pro657Thr)
c.874C>A (p.Pro292Thr)
c.463C>A (p.Pro155Thr)
n.1986C>A
 COSMIC
5g.13901444C>ACA359205895DNAH5c.1860G>T (p.Gln620His)
c.1815G>T (p.Gln605His)
n.2067G>T
c.1968G>T (p.Gln656His)
c.873G>T (p.Gln291His)
c.462G>T (p.Gln154His)
n.1985G>T
5g.13901444C>GCA359205897DNAH5c.1860G>C (p.Gln620His)
c.1815G>C (p.Gln605His)
n.2067G>C
c.1968G>C (p.Gln656His)
c.873G>C (p.Gln291His)
c.462G>C (p.Gln154His)
n.1985G>C
5g.13901444C>TCA443536841DNAH5c.1860G>A (p.Gln620=)
c.1815G>A (p.Gln605=)
n.2067G>A
c.1968G>A (p.Gln656=)
c.873G>A (p.Gln291=)
c.462G>A (p.Gln154=)
n.1985G>A
 ClinVar gnomAD v4
5g.13901445T>ACA359205900DNAH5c.1859A>T (p.Gln620Leu)
c.1814A>T (p.Gln605Leu)
n.2066A>T
c.1967A>T (p.Gln656Leu)
c.872A>T (p.Gln291Leu)
c.461A>T (p.Gln154Leu)
n.1984A>T
5g.13901445T>CCA359205909DNAH5c.1859A>G (p.Gln620Arg)
c.1814A>G (p.Gln605Arg)
n.2066A>G
c.1967A>G (p.Gln656Arg)
c.872A>G (p.Gln291Arg)
c.461A>G (p.Gln154Arg)
n.1984A>G
5g.13901445T>GCA359205908DNAH5c.1859A>C (p.Gln620Pro)
c.1814A>C (p.Gln605Pro)
n.2066A>C
c.1967A>C (p.Gln656Pro)
c.872A>C (p.Gln291Pro)
c.461A>C (p.Gln154Pro)
n.1984A>C
5g.13901446G>ACA359205910DNAH5c.1858C>T (p.Gln620Ter)
c.1813C>T (p.Gln605Ter)
n.2065C>T
c.1966C>T (p.Gln656Ter)
c.871C>T (p.Gln291Ter)
c.460C>T (p.Gln154Ter)
n.1983C>T
5g.13901446G>CCA359205911DNAH5c.1858C>G (p.Gln620Glu)
c.1813C>G (p.Gln605Glu)
n.2065C>G
c.1966C>G (p.Gln656Glu)
c.871C>G (p.Gln291Glu)
c.460C>G (p.Gln154Glu)
n.1983C>G
5g.13901446G=CA1528490460DNAH5c.1858C= (p.Gln620=)
c.1813C= (p.Gln605=)
n.2065C=
c.1966C= (p.Gln656=)
c.871C= (p.Gln291=)
c.460C= (p.Gln154=)
n.1983C=
5g.13901446G>TCA3204727DNAH5c.1858C>A (p.Gln620Lys)
c.1813C>A (p.Gln605Lys)
n.2065C>A
c.1966C>A (p.Gln656Lys)
c.871C>A (p.Gln291Lys)
c.460C>A (p.Gln154Lys)
n.1983C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901447G>ACA443536842DNAH5c.1857C>T (p.Asn619=)
c.1812C>T (p.Asn604=)
n.2064C>T
c.1965C>T (p.Asn655=)
c.870C>T (p.Asn290=)
c.459C>T (p.Asn153=)
n.1982C>T
 gnomAD v4
5g.13901447G>CCA359205925DNAH5c.1857C>G (p.Asn619Lys)
c.1812C>G (p.Asn604Lys)
n.2064C>G
c.1965C>G (p.Asn655Lys)
c.870C>G (p.Asn290Lys)
c.459C>G (p.Asn153Lys)
n.1982C>G
5g.13901447G>TCA359205928DNAH5c.1857C>A (p.Asn619Lys)
c.1812C>A (p.Asn604Lys)
n.2064C>A
c.1965C>A (p.Asn655Lys)
c.870C>A (p.Asn290Lys)
c.459C>A (p.Asn153Lys)
n.1982C>A
5g.13901448T>ACA359205940DNAH5c.1856A>T (p.Asn619Ile)
c.1811A>T (p.Asn604Ile)
n.2063A>T
c.1964A>T (p.Asn655Ile)
c.869A>T (p.Asn290Ile)
c.458A>T (p.Asn153Ile)
n.1981A>T
5g.13901448T>CCA359205943DNAH5c.1856A>G (p.Asn619Ser)
c.1811A>G (p.Asn604Ser)
n.2063A>G
c.1964A>G (p.Asn655Ser)
c.869A>G (p.Asn290Ser)
c.458A>G (p.Asn153Ser)
n.1981A>G
5g.13901448T>GCA3204728DNAH5c.1856A>C (p.Asn619Thr)
c.1811A>C (p.Asn604Thr)
n.2063A>C
c.1964A>C (p.Asn655Thr)
c.869A>C (p.Asn290Thr)
c.458A>C (p.Asn153Thr)
n.1981A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901448T=CA1528490461DNAH5c.1856A= (p.Asn619=)
c.1811A= (p.Asn604=)
n.2063A=
c.1964A= (p.Asn655=)
c.869A= (p.Asn290=)
c.458A= (p.Asn153=)
n.1981A=
5g.13901449T>ACA359205967DNAH5c.1855A>T (p.Asn619Tyr)
c.1810A>T (p.Asn604Tyr)
n.2062A>T
c.1963A>T (p.Asn655Tyr)
c.868A>T (p.Asn290Tyr)
c.457A>T (p.Asn153Tyr)
n.1980A>T
5g.13901449T>CCA3204729DNAH5c.1855A>G (p.Asn619Asp)
c.1810A>G (p.Asn604Asp)
n.2062A>G
c.1963A>G (p.Asn655Asp)
c.868A>G (p.Asn290Asp)
c.457A>G (p.Asn153Asp)
n.1980A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901449T>GCA359205969DNAH5c.1855A>C (p.Asn619His)
c.1810A>C (p.Asn604His)
n.2062A>C
c.1963A>C (p.Asn655His)
c.868A>C (p.Asn290His)
c.457A>C (p.Asn153His)
n.1980A>C
5g.13901449T=CA1528490462DNAH5c.1855A= (p.Asn619=)
c.1810A= (p.Asn604=)
n.2062A=
c.1963A= (p.Asn655=)
c.868A= (p.Asn290=)
c.457A= (p.Asn153=)
n.1980A=
5g.13901450T>ACA443536843DNAH5c.1854A>T (p.Arg618=)
c.1809A>T (p.Arg603=)
n.2061A>T
c.1962A>T (p.Arg654=)
c.867A>T (p.Arg289=)
c.456A>T (p.Arg152=)
n.1979A>T
5g.13901450T>CCA443536844DNAH5c.1854A>G (p.Arg618=)
c.1809A>G (p.Arg603=)
n.2061A>G
c.1962A>G (p.Arg654=)
c.867A>G (p.Arg289=)
c.456A>G (p.Arg152=)
n.1979A>G
5g.13901450T>GCA443536845DNAH5c.1854A>C (p.Arg618=)
c.1809A>C (p.Arg603=)
n.2061A>C
c.1962A>C (p.Arg654=)
c.867A>C (p.Arg289=)
c.456A>C (p.Arg152=)
n.1979A>C
5g.13901451C>ACA359205970DNAH5c.1853G>T (p.Arg618Leu)
c.1808G>T (p.Arg603Leu)
n.2060G>T
c.1961G>T (p.Arg654Leu)
c.866G>T (p.Arg289Leu)
c.455G>T (p.Arg152Leu)
n.1978G>T
5g.13901451C=CA1528490463DNAH5c.1853G= (p.Arg618=)
c.1808G= (p.Arg603=)
n.2060G=
c.1961G= (p.Arg654=)
c.866G= (p.Arg289=)
c.455G= (p.Arg152=)
n.1978G=
5g.13901451C>GCA359205973DNAH5c.1853G>C (p.Arg618Pro)
c.1808G>C (p.Arg603Pro)
n.2060G>C
c.1961G>C (p.Arg654Pro)
c.866G>C (p.Arg289Pro)
c.455G>C (p.Arg152Pro)
n.1978G>C
5g.13901451C>TCA3204730DNAH5c.1853G>A (p.Arg618Gln)
c.1808G>A (p.Arg603Gln)
n.2060G>A
c.1961G>A (p.Arg654Gln)
c.866G>A (p.Arg289Gln)
c.455G>A (p.Arg152Gln)
n.1978G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13901452G>ACA113944430DNAH5c.1852C>T (p.Arg618Ter)
c.1807C>T (p.Arg603Ter)
n.2059C>T
c.1960C>T (p.Arg654Ter)
c.865C>T (p.Arg289Ter)
c.454C>T (p.Arg152Ter)
n.1977C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901452G>CCA3204731DNAH5c.1852C>G (p.Arg618Gly)
c.1807C>G (p.Arg603Gly)
n.2059C>G
c.1960C>G (p.Arg654Gly)
c.865C>G (p.Arg289Gly)
c.454C>G (p.Arg152Gly)
n.1977C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901452G=CA1528490464DNAH5c.1852C= (p.Arg618=)
c.1807C= (p.Arg603=)
n.2059C=
c.1960C= (p.Arg654=)
c.865C= (p.Arg289=)
c.454C= (p.Arg152=)
n.1977C=
5g.13901452G>TCA443536846DNAH5c.1852C>A (p.Arg618=)
c.1807C>A (p.Arg603=)
n.2059C>A
c.1960C>A (p.Arg654=)
c.865C>A (p.Arg289=)
c.454C>A (p.Arg152=)
n.1977C>A
5g.13901453A=CA1528490465DNAH5c.1851T= (p.Ala617=)
c.1806T= (p.Ala602=)
n.2058T=
c.1959T= (p.Ala653=)
c.864T= (p.Ala288=)
c.453T= (p.Ala151=)
n.1976T=
5g.13901453A>CCA3204732DNAH5c.1851T>G (p.Ala617=)
c.1806T>G (p.Ala602=)
n.2058T>G
c.1959T>G (p.Ala653=)
c.864T>G (p.Ala288=)
c.453T>G (p.Ala151=)
n.1976T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901453A>GCA443536847DNAH5c.1851T>C (p.Ala617=)
c.1806T>C (p.Ala602=)
n.2058T>C
c.1959T>C (p.Ala653=)
c.864T>C (p.Ala288=)
c.453T>C (p.Ala151=)
n.1976T>C
5g.13901453A>TCA443536848DNAH5c.1851T>A (p.Ala617=)
c.1806T>A (p.Ala602=)
n.2058T>A
c.1959T>A (p.Ala653=)
c.864T>A (p.Ala288=)
c.453T>A (p.Ala151=)
n.1976T>A
5g.13901454G>ACA359205998DNAH5c.1850C>T (p.Ala617Val)
c.1805C>T (p.Ala602Val)
n.2057C>T
c.1958C>T (p.Ala653Val)
c.863C>T (p.Ala288Val)
c.452C>T (p.Ala151Val)
n.1975C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13901454G>CCA359205999DNAH5c.1850C>G (p.Ala617Gly)
c.1805C>G (p.Ala602Gly)
n.2057C>G
c.1958C>G (p.Ala653Gly)
c.863C>G (p.Ala288Gly)
c.452C>G (p.Ala151Gly)
n.1975C>G
5g.13901454G=CA1528490466DNAH5c.1850C= (p.Ala617=)
c.1805C= (p.Ala602=)
n.2057C=
c.1958C= (p.Ala653=)
c.863C= (p.Ala288=)
c.452C= (p.Ala151=)
n.1975C=
5g.13901454G>TCA359206002DNAH5c.1850C>A (p.Ala617Asp)
c.1805C>A (p.Ala602Asp)
n.2057C>A
c.1958C>A (p.Ala653Asp)
c.863C>A (p.Ala288Asp)
c.452C>A (p.Ala151Asp)
n.1975C>A
5g.13901455C>ACA359206013DNAH5c.1849G>T (p.Ala617Ser)
c.1804G>T (p.Ala602Ser)
n.2056G>T
c.1957G>T (p.Ala653Ser)
c.862G>T (p.Ala288Ser)
c.451G>T (p.Ala151Ser)
n.1974G>T
5g.13901455C=CA1528490467DNAH5c.1849G= (p.Ala617=)
c.1804G= (p.Ala602=)
n.2056G=
c.1957G= (p.Ala653=)
c.862G= (p.Ala288=)
c.451G= (p.Ala151=)
n.1974G=
5g.13901455C>GCA359206018DNAH5c.1849G>C (p.Ala617Pro)
c.1804G>C (p.Ala602Pro)
n.2056G>C
c.1957G>C (p.Ala653Pro)
c.862G>C (p.Ala288Pro)
c.451G>C (p.Ala151Pro)
n.1974G>C
5g.13901455C>TCA359206023DNAH5c.1849G>A (p.Ala617Thr)
c.1804G>A (p.Ala602Thr)
n.2056G>A
c.1957G>A (p.Ala653Thr)
c.862G>A (p.Ala288Thr)
c.451G>A (p.Ala151Thr)
n.1974G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13901456C>ACA443536849DNAH5c.1848G>T (p.Leu616=)
c.1803G>T (p.Leu601=)
n.2055G>T
c.1956G>T (p.Leu652=)
c.861G>T (p.Leu287=)
c.450G>T (p.Leu150=)
n.1973G>T
5g.13901456C=CA1528490468DNAH5c.1848G= (p.Leu616=)
c.1803G= (p.Leu601=)
n.2055G=
c.1956G= (p.Leu652=)
c.861G= (p.Leu287=)
c.450G= (p.Leu150=)
n.1973G=
5g.13901456C>GCA443536850DNAH5c.1848G>C (p.Leu616=)
c.1803G>C (p.Leu601=)
n.2055G>C
c.1956G>C (p.Leu652=)
c.861G>C (p.Leu287=)
c.450G>C (p.Leu150=)
n.1973G>C
5g.13901456C>TCA443536851DNAH5c.1848G>A (p.Leu616=)
c.1803G>A (p.Leu601=)
n.2055G>A
c.1956G>A (p.Leu652=)
c.861G>A (p.Leu287=)
c.450G>A (p.Leu150=)
n.1973G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13901457A>CCA359206026DNAH5c.1847T>G (p.Leu616Arg)
c.1802T>G (p.Leu601Arg)
n.2054T>G
c.1955T>G (p.Leu652Arg)
c.860T>G (p.Leu287Arg)
c.449T>G (p.Leu150Arg)
n.1972T>G
5g.13901457A>GCA359206035DNAH5c.1847T>C (p.Leu616Pro)
c.1802T>C (p.Leu601Pro)
n.2054T>C
c.1955T>C (p.Leu652Pro)
c.860T>C (p.Leu287Pro)
c.449T>C (p.Leu150Pro)
n.1972T>C
5g.13901457A>TCA359206040DNAH5c.1847T>A (p.Leu616Gln)
c.1802T>A (p.Leu601Gln)
n.2054T>A
c.1955T>A (p.Leu652Gln)
c.860T>A (p.Leu287Gln)
c.449T>A (p.Leu150Gln)
n.1972T>A
5g.13901458G>ACA443536852DNAH5c.1846C>T (p.Leu616=)
c.1801C>T (p.Leu601=)
n.2053C>T
c.1954C>T (p.Leu652=)
c.859C>T (p.Leu287=)
c.448C>T (p.Leu150=)
n.1971C>T
5g.13901458G>CCA359206048DNAH5c.1846C>G (p.Leu616Val)
c.1801C>G (p.Leu601Val)
n.2053C>G
c.1954C>G (p.Leu652Val)
c.859C>G (p.Leu287Val)
c.448C>G (p.Leu150Val)
n.1971C>G
5g.13901458G>TCA359206044DNAH5c.1846C>A (p.Leu616Met)
c.1801C>A (p.Leu601Met)
n.2053C>A
c.1954C>A (p.Leu652Met)
c.859C>A (p.Leu287Met)
c.448C>A (p.Leu150Met)
n.1971C>A
5g.13901459A>CCA443536853DNAH5c.1845T>G (p.Pro615=)
c.1800T>G (p.Pro600=)
n.2052T>G
c.1953T>G (p.Pro651=)
c.858T>G (p.Pro286=)
c.447T>G (p.Pro149=)
n.1970T>G
5g.13901459A>GCA443536854DNAH5c.1845T>C (p.Pro615=)
c.1800T>C (p.Pro600=)
n.2052T>C
c.1953T>C (p.Pro651=)
c.858T>C (p.Pro286=)
c.447T>C (p.Pro149=)
n.1970T>C
5g.13901459A>TCA443536855DNAH5c.1845T>A (p.Pro615=)
c.1800T>A (p.Pro600=)
n.2052T>A
c.1953T>A (p.Pro651=)
c.858T>A (p.Pro286=)
c.447T>A (p.Pro149=)
n.1970T>A
5g.13901460G>ACA359206049DNAH5c.1844C>T (p.Pro615Leu)
c.1799C>T (p.Pro600Leu)
n.2051C>T
c.1952C>T (p.Pro651Leu)
c.857C>T (p.Pro286Leu)
c.446C>T (p.Pro149Leu)
n.1969C>T
 gnomAD v4
5g.13901460G>CCA359206050DNAH5c.1844C>G (p.Pro615Arg)
c.1799C>G (p.Pro600Arg)
n.2051C>G
c.1952C>G (p.Pro651Arg)
c.857C>G (p.Pro286Arg)
c.446C>G (p.Pro149Arg)
n.1969C>G
5g.13901460G>TCA359206059DNAH5c.1844C>A (p.Pro615His)
c.1799C>A (p.Pro600His)
n.2051C>A
c.1952C>A (p.Pro651His)
c.857C>A (p.Pro286His)
c.446C>A (p.Pro149His)
n.1969C>A
 COSMIC
5g.13901461G>ACA3204733DNAH5c.1843C>T (p.Pro615Ser)
c.1798C>T (p.Pro600Ser)
n.2050C>T
c.1951C>T (p.Pro651Ser)
c.856C>T (p.Pro286Ser)
c.445C>T (p.Pro149Ser)
n.1968C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901461G>CCA359206085DNAH5c.1843C>G (p.Pro615Ala)
c.1798C>G (p.Pro600Ala)
n.2050C>G
c.1951C>G (p.Pro651Ala)
c.856C>G (p.Pro286Ala)
c.445C>G (p.Pro149Ala)
n.1968C>G
 dbSNP gnomAD v4
5g.13901461G=CA1528490469DNAH5c.1843C= (p.Pro615=)
c.1798C= (p.Pro600=)
n.2050C=
c.1951C= (p.Pro651=)
c.856C= (p.Pro286=)
c.445C= (p.Pro149=)
n.1968C=
5g.13901461G>TCA359206095DNAH5c.1843C>A (p.Pro615Thr)
c.1798C>A (p.Pro600Thr)
n.2050C>A
c.1951C>A (p.Pro651Thr)
c.856C>A (p.Pro286Thr)
c.445C>A (p.Pro149Thr)
n.1968C>A
5g.13901462A>CCA443536858DNAH5c.1842T>G (p.Pro614=)
c.1797T>G (p.Pro599=)
n.2049T>G
c.1950T>G (p.Pro650=)
c.855T>G (p.Pro285=)
c.444T>G (p.Pro148=)
n.1967T>G
 ClinVar dbSNP
5g.13901462A>GCA443536857DNAH5c.1842T>C (p.Pro614=)
c.1797T>C (p.Pro599=)
n.2049T>C
c.1950T>C (p.Pro650=)
c.855T>C (p.Pro285=)
c.444T>C (p.Pro148=)
n.1967T>C
5g.13901462A>TCA443536856DNAH5c.1842T>A (p.Pro614=)
c.1797T>A (p.Pro599=)
n.2049T>A
c.1950T>A (p.Pro650=)
c.855T>A (p.Pro285=)
c.444T>A (p.Pro148=)
n.1967T>A
5g.13901463G>ACA359206099DNAH5c.1841C>T (p.Pro614Leu)
c.1796C>T (p.Pro599Leu)
n.2048C>T
c.1949C>T (p.Pro650Leu)
c.854C>T (p.Pro285Leu)
c.443C>T (p.Pro148Leu)
n.1966C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13901463G>CCA359206104DNAH5c.1841C>G (p.Pro614Arg)
c.1796C>G (p.Pro599Arg)
n.2048C>G
c.1949C>G (p.Pro650Arg)
c.854C>G (p.Pro285Arg)
c.443C>G (p.Pro148Arg)
n.1966C>G
5g.13901463G=CA1528490470DNAH5c.1841C= (p.Pro614=)
c.1796C= (p.Pro599=)
n.2048C=
c.1949C= (p.Pro650=)
c.854C= (p.Pro285=)
c.443C= (p.Pro148=)
n.1966C=
5g.13901463G>TCA359206107DNAH5c.1841C>A (p.Pro614His)
c.1796C>A (p.Pro599His)
n.2048C>A
c.1949C>A (p.Pro650His)
c.854C>A (p.Pro285His)
c.443C>A (p.Pro148His)
n.1966C>A
 gnomAD v4
5g.13901464G>ACA359206127DNAH5c.1840C>T (p.Pro614Ser)
c.1795C>T (p.Pro599Ser)
n.2047C>T
c.1948C>T (p.Pro650Ser)
c.853C>T (p.Pro285Ser)
c.442C>T (p.Pro148Ser)
n.1965C>T
 gnomAD v4
5g.13901464G>CCA359206128DNAH5c.1840C>G (p.Pro614Ala)
c.1795C>G (p.Pro599Ala)
n.2047C>G
c.1948C>G (p.Pro650Ala)
c.853C>G (p.Pro285Ala)
c.442C>G (p.Pro148Ala)
n.1965C>G
 gnomAD v4
5g.13901464G>TCA359206129DNAH5c.1840C>A (p.Pro614Thr)
c.1795C>A (p.Pro599Thr)
n.2047C>A
c.1948C>A (p.Pro650Thr)
c.853C>A (p.Pro285Thr)
c.442C>A (p.Pro148Thr)
n.1965C>A
5g.13901465A=CA1528490471DNAH5c.1839T= (p.Asp613=)
c.1794T= (p.Asp598=)
n.2046T=
c.1947T= (p.Asp649=)
c.852T= (p.Asp284=)
c.441T= (p.Asp147=)
n.1964T=
5g.13901465A>CCA359206131DNAH5c.1839T>G (p.Asp613Glu)
c.1794T>G (p.Asp598Glu)
n.2046T>G
c.1947T>G (p.Asp649Glu)
c.852T>G (p.Asp284Glu)
c.441T>G (p.Asp147Glu)
n.1964T>G
5g.13901465A>GCA443536859DNAH5c.1839T>C (p.Asp613=)
c.1794T>C (p.Asp598=)
n.2046T>C
c.1947T>C (p.Asp649=)
c.852T>C (p.Asp284=)
c.441T>C (p.Asp147=)
n.1964T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901465A>TCA359206130DNAH5c.1839T>A (p.Asp613Glu)
c.1794T>A (p.Asp598Glu)
n.2046T>A
c.1947T>A (p.Asp649Glu)
c.852T>A (p.Asp284Glu)
c.441T>A (p.Asp147Glu)
n.1964T>A
5g.13901466T>ACA359206137DNAH5c.1838A>T (p.Asp613Val)
c.1793A>T (p.Asp598Val)
n.2045A>T
c.1946A>T (p.Asp649Val)
c.851A>T (p.Asp284Val)
c.440A>T (p.Asp147Val)
n.1963A>T
5g.13901466T>CCA359206154DNAH5c.1838A>G (p.Asp613Gly)
c.1793A>G (p.Asp598Gly)
n.2045A>G
c.1946A>G (p.Asp649Gly)
c.851A>G (p.Asp284Gly)
c.440A>G (p.Asp147Gly)
n.1963A>G
 gnomAD v4
5g.13901466T>GCA359206153DNAH5c.1838A>C (p.Asp613Ala)
c.1793A>C (p.Asp598Ala)
n.2045A>C
c.1946A>C (p.Asp649Ala)
c.851A>C (p.Asp284Ala)
c.440A>C (p.Asp147Ala)
n.1963A>C
 gnomAD v4
5g.13901467C>ACA359206155DNAH5c.1837G>T (p.Asp613Tyr)
c.1792G>T (p.Asp598Tyr)
n.2044G>T
c.1945G>T (p.Asp649Tyr)
c.850G>T (p.Asp284Tyr)
c.439G>T (p.Asp147Tyr)
n.1962G>T
 dbSNP gnomAD v2
5g.13901467C=CA1528490472DNAH5c.1837G= (p.Asp613=)
c.1792G= (p.Asp598=)
n.2044G=
c.1945G= (p.Asp649=)
c.850G= (p.Asp284=)
c.439G= (p.Asp147=)
n.1962G=
5g.13901467C>GCA359206156DNAH5c.1837G>C (p.Asp613His)
c.1792G>C (p.Asp598His)
n.2044G>C
c.1945G>C (p.Asp649His)
c.850G>C (p.Asp284His)
c.439G>C (p.Asp147His)
n.1962G>C
5g.13901467C>TCA3204734DNAH5c.1837G>A (p.Asp613Asn)
c.1792G>A (p.Asp598Asn)
n.2044G>A
c.1945G>A (p.Asp649Asn)
c.850G>A (p.Asp284Asn)
c.439G>A (p.Asp147Asn)
n.1962G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901468G>ACA113944441DNAH5c.1836C>T (p.Tyr612=)
c.1791C>T (p.Tyr597=)
n.2043C>T
c.1944C>T (p.Tyr648=)
c.849C>T (p.Tyr283=)
c.438C>T (p.Tyr146=)
n.1961C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901468G>CCA359206162DNAH5c.1836C>G (p.Tyr612Ter)
c.1791C>G (p.Tyr597Ter)
n.2043C>G
c.1944C>G (p.Tyr648Ter)
c.849C>G (p.Tyr283Ter)
c.438C>G (p.Tyr146Ter)
n.1961C>G
5g.13901468G=CA1528490473DNAH5c.1836C= (p.Tyr612=)
c.1791C= (p.Tyr597=)
n.2043C=
c.1944C= (p.Tyr648=)
c.849C= (p.Tyr283=)
c.438C= (p.Tyr146=)
n.1961C=
5g.13901468G>TCA359206173DNAH5c.1836C>A (p.Tyr612Ter)
c.1791C>A (p.Tyr597Ter)
n.2043C>A
c.1944C>A (p.Tyr648Ter)
c.849C>A (p.Tyr283Ter)
c.438C>A (p.Tyr146Ter)
n.1961C>A
5g.13901469T>ACA359206178DNAH5c.1835A>T (p.Tyr612Phe)
c.1790A>T (p.Tyr597Phe)
n.2042A>T
c.1943A>T (p.Tyr648Phe)
c.848A>T (p.Tyr283Phe)
c.437A>T (p.Tyr146Phe)
n.1960A>T
5g.13901469T>CCA359206193DNAH5c.1835A>G (p.Tyr612Cys)
c.1790A>G (p.Tyr597Cys)
n.2042A>G
c.1943A>G (p.Tyr648Cys)
c.848A>G (p.Tyr283Cys)
c.437A>G (p.Tyr146Cys)
n.1960A>G
5g.13901469T>GCA359206195DNAH5c.1835A>C (p.Tyr612Ser)
c.1790A>C (p.Tyr597Ser)
n.2042A>C
c.1943A>C (p.Tyr648Ser)
c.848A>C (p.Tyr283Ser)
c.437A>C (p.Tyr146Ser)
n.1960A>C
5g.13901470A>CCA359206196DNAH5c.1834T>G (p.Tyr612Asp)
c.1789T>G (p.Tyr597Asp)
n.2041T>G
c.1942T>G (p.Tyr648Asp)
c.847T>G (p.Tyr283Asp)
c.436T>G (p.Tyr146Asp)
n.1959T>G
5g.13901470A>GCA359206202DNAH5c.1834T>C (p.Tyr612His)
c.1789T>C (p.Tyr597His)
n.2041T>C
c.1942T>C (p.Tyr648His)
c.847T>C (p.Tyr283His)
c.436T>C (p.Tyr146His)
n.1959T>C
5g.13901470A>TCA359206217DNAH5c.1834T>A (p.Tyr612Asn)
c.1789T>A (p.Tyr597Asn)
n.2041T>A
c.1942T>A (p.Tyr648Asn)
c.847T>A (p.Tyr283Asn)
c.436T>A (p.Tyr146Asn)
n.1959T>A
5g.13901471T>ACA359206239DNAH5c.1833A>T (p.Lys611Asn)
c.1788A>T (p.Lys596Asn)
n.2040A>T
c.1941A>T (p.Lys647Asn)
c.846A>T (p.Lys282Asn)
c.435A>T (p.Lys145Asn)
n.1958A>T
5g.13901471T>CCA443536860DNAH5c.1833A>G (p.Lys611=)
c.1788A>G (p.Lys596=)
n.2040A>G
c.1941A>G (p.Lys647=)
c.846A>G (p.Lys282=)
c.435A>G (p.Lys145=)
n.1958A>G
5g.13901471T>GCA359206238DNAH5c.1833A>C (p.Lys611Asn)
c.1788A>C (p.Lys596Asn)
n.2040A>C
c.1941A>C (p.Lys647Asn)
c.846A>C (p.Lys282Asn)
c.435A>C (p.Lys145Asn)
n.1958A>C
5g.13901472T>ACA359206243DNAH5c.1832A>T (p.Lys611Ile)
c.1787A>T (p.Lys596Ile)
n.2039A>T
c.1940A>T (p.Lys647Ile)
c.845A>T (p.Lys282Ile)
c.434A>T (p.Lys145Ile)
n.1957A>T
5g.13901472T>CCA359206248DNAH5c.1832A>G (p.Lys611Arg)
c.1787A>G (p.Lys596Arg)
n.2039A>G
c.1940A>G (p.Lys647Arg)
c.845A>G (p.Lys282Arg)
c.434A>G (p.Lys145Arg)
n.1957A>G
 dbSNP
5g.13901472T>GCA359206268DNAH5c.1832A>C (p.Lys611Thr)
c.1787A>C (p.Lys596Thr)
n.2039A>C
c.1940A>C (p.Lys647Thr)
c.845A>C (p.Lys282Thr)
c.434A>C (p.Lys145Thr)
n.1957A>C
 dbSNP
5g.13901472T=CA1528490474DNAH5c.1832A= (p.Lys611=)
c.1787A= (p.Lys596=)
n.2039A=
c.1940A= (p.Lys647=)
c.845A= (p.Lys282=)
c.434A= (p.Lys145=)
n.1957A=
5g.13901473T>ACA359206290DNAH5c.1831A>T (p.Lys611Ter)
c.1786A>T (p.Lys596Ter)
n.2038A>T
c.1939A>T (p.Lys647Ter)
c.844A>T (p.Lys282Ter)
c.433A>T (p.Lys145Ter)
n.1956A>T
5g.13901473T>CCA3204735DNAH5c.1831A>G (p.Lys611Glu)
c.1786A>G (p.Lys596Glu)
n.2038A>G
c.1939A>G (p.Lys647Glu)
c.844A>G (p.Lys282Glu)
c.433A>G (p.Lys145Glu)
n.1956A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901473T>GCA359206299DNAH5c.1831A>C (p.Lys611Gln)
c.1786A>C (p.Lys596Gln)
n.2038A>C
c.1939A>C (p.Lys647Gln)
c.844A>C (p.Lys282Gln)
c.433A>C (p.Lys145Gln)
n.1956A>C
5g.13901473T=CA1528490475DNAH5c.1831A= (p.Lys611=)
c.1786A= (p.Lys596=)
n.2038A=
c.1939A= (p.Lys647=)
c.844A= (p.Lys282=)
c.433A= (p.Lys145=)
n.1956A=
5g.13901474_13901482dupCA2673279623DNAH5c.1823_1831dup (p.Gln610_Lys611insThrLysGln)
c.1778_1786dup (p.Gln595_Lys596insThrLysGln)
n.2030_2038dup
c.1931_1939dup (p.Gln646_Lys647insThrLysGln)
c.836_844dup (p.Gln281_Lys282insThrLysGln)
c.425_433dup (p.Gln144_Lys145insThrLysGln)
n.1948_1956dup
 gnomAD v4
5g.13901474C>ACA359206303DNAH5c.1830G>T (p.Gln610His)
c.1785G>T (p.Gln595His)
n.2037G>T
c.1938G>T (p.Gln646His)
c.843G>T (p.Gln281His)
c.432G>T (p.Gln144His)
n.1955G>T
5g.13901474C=CA1528490476DNAH5c.1830G= (p.Gln610=)
c.1785G= (p.Gln595=)
n.2037G=
c.1938G= (p.Gln646=)
c.843G= (p.Gln281=)
c.432G= (p.Gln144=)
n.1955G=
5g.13901474C>GCA359206306DNAH5c.1830G>C (p.Gln610His)
c.1785G>C (p.Gln595His)
n.2037G>C
c.1938G>C (p.Gln646His)
c.843G>C (p.Gln281His)
c.432G>C (p.Gln144His)
n.1955G>C
5g.13901474C>TCA3204736DNAH5c.1830G>A (p.Gln610=)
c.1785G>A (p.Gln595=)
n.2037G>A
c.1938G>A (p.Gln646=)
c.843G>A (p.Gln281=)
c.432G>A (p.Gln144=)
n.1955G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901475T>ACA359206323DNAH5c.1829A>T (p.Gln610Leu)
c.1784A>T (p.Gln595Leu)
n.2036A>T
c.1937A>T (p.Gln646Leu)
c.842A>T (p.Gln281Leu)
c.431A>T (p.Gln144Leu)
n.1954A>T
5g.13901475T>CCA359206324DNAH5c.1829A>G (p.Gln610Arg)
c.1784A>G (p.Gln595Arg)
n.2036A>G
c.1937A>G (p.Gln646Arg)
c.842A>G (p.Gln281Arg)
c.431A>G (p.Gln144Arg)
n.1954A>G
5g.13901475T>GCA359206325DNAH5c.1829A>C (p.Gln610Pro)
c.1784A>C (p.Gln595Pro)
n.2036A>C
c.1937A>C (p.Gln646Pro)
c.842A>C (p.Gln281Pro)
c.431A>C (p.Gln144Pro)
n.1954A>C
5g.13901476G>ACA253866DNAH5c.1828C>T (p.Gln610Ter)
c.1783C>T (p.Gln595Ter)
n.2035C>T
c.1936C>T (p.Gln646Ter)
c.841C>T (p.Gln281Ter)
c.430C>T (p.Gln144Ter)
n.1953C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13901476G>CCA113944454DNAH5c.1828C>G (p.Gln610Glu)
c.1783C>G (p.Gln595Glu)
n.2035C>G
c.1936C>G (p.Gln646Glu)
c.841C>G (p.Gln281Glu)
c.430C>G (p.Gln144Glu)
n.1953C>G
 ClinVar dbSNP gnomAD v4
5g.13901476G=CA1528490477DNAH5c.1828C= (p.Gln610=)
c.1783C= (p.Gln595=)
n.2035C=
c.1936C= (p.Gln646=)
c.841C= (p.Gln281=)
c.430C= (p.Gln144=)
n.1953C=
5g.13901476G>TCA359206326DNAH5c.1828C>A (p.Gln610Lys)
c.1783C>A (p.Gln595Lys)
n.2035C>A
c.1936C>A (p.Gln646Lys)
c.841C>A (p.Gln281Lys)
c.430C>A (p.Gln144Lys)
n.1953C>A
5g.13901477C>ACA359206328DNAH5c.1827G>T (p.Lys609Asn)
c.1782G>T (p.Lys594Asn)
n.2034G>T
c.1935G>T (p.Lys645Asn)
c.840G>T (p.Lys280Asn)
c.429G>T (p.Lys143Asn)
n.1952G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901477C=CA1528490478DNAH5c.1827G= (p.Lys609=)
c.1782G= (p.Lys594=)
n.2034G=
c.1935G= (p.Lys645=)
c.840G= (p.Lys280=)
c.429G= (p.Lys143=)
n.1952G=
5g.13901477C>GCA359206330DNAH5c.1827G>C (p.Lys609Asn)
c.1782G>C (p.Lys594Asn)
n.2034G>C
c.1935G>C (p.Lys645Asn)
c.840G>C (p.Lys280Asn)
c.429G>C (p.Lys143Asn)
n.1952G>C
5g.13901477C>TCA443536861DNAH5c.1827G>A (p.Lys609=)
c.1782G>A (p.Lys594=)
n.2034G>A
c.1935G>A (p.Lys645=)
c.840G>A (p.Lys280=)
c.429G>A (p.Lys143=)
n.1952G>A
5g.13901478T>ACA359206335DNAH5c.1826A>T (p.Lys609Met)
c.1781A>T (p.Lys594Met)
n.2033A>T
c.1934A>T (p.Lys645Met)
c.839A>T (p.Lys280Met)
c.428A>T (p.Lys143Met)
n.1951A>T
5g.13901478T>CCA359206336DNAH5c.1826A>G (p.Lys609Arg)
c.1781A>G (p.Lys594Arg)
n.2033A>G
c.1934A>G (p.Lys645Arg)
c.839A>G (p.Lys280Arg)
c.428A>G (p.Lys143Arg)
n.1951A>G
5g.13901478T>GCA359206337DNAH5c.1826A>C (p.Lys609Thr)
c.1781A>C (p.Lys594Thr)
n.2033A>C
c.1934A>C (p.Lys645Thr)
c.839A>C (p.Lys280Thr)
c.428A>C (p.Lys143Thr)
n.1951A>C
5g.13901479T>ACA359206340DNAH5c.1825A>T (p.Lys609Ter)
c.1780A>T (p.Lys594Ter)
n.2032A>T
c.1933A>T (p.Lys645Ter)
c.838A>T (p.Lys280Ter)
c.427A>T (p.Lys143Ter)
n.1950A>T
5g.13901479T>CCA359206348DNAH5c.1825A>G (p.Lys609Glu)
c.1780A>G (p.Lys594Glu)
n.2032A>G
c.1933A>G (p.Lys645Glu)
c.838A>G (p.Lys280Glu)
c.427A>G (p.Lys143Glu)
n.1950A>G
 dbSNP gnomAD v3 gnomAD v4
5g.13901479T>GCA359206350DNAH5c.1825A>C (p.Lys609Gln)
c.1780A>C (p.Lys594Gln)
n.2032A>C
c.1933A>C (p.Lys645Gln)
c.838A>C (p.Lys280Gln)
c.427A>C (p.Lys143Gln)
n.1950A>C
5g.13901479T=CA1528490479DNAH5c.1825A= (p.Lys609=)
c.1780A= (p.Lys594=)
n.2032A=
c.1933A= (p.Lys645=)
c.838A= (p.Lys280=)
c.427A= (p.Lys143=)
n.1950A=
5g.13901480T>ACA443536862DNAH5c.1824A>T (p.Thr608=)
c.1779A>T (p.Thr593=)
n.2031A>T
c.1932A>T (p.Thr644=)
c.837A>T (p.Thr279=)
c.426A>T (p.Thr142=)
n.1949A>T
 gnomAD v4
5g.13901480T>CCA443536863DNAH5c.1824A>G (p.Thr608=)
c.1779A>G (p.Thr593=)
n.2031A>G
c.1932A>G (p.Thr644=)
c.837A>G (p.Thr279=)
c.426A>G (p.Thr142=)
n.1949A>G
5g.13901480T>GCA443536864DNAH5c.1824A>C (p.Thr608=)
c.1779A>C (p.Thr593=)
n.2031A>C
c.1932A>C (p.Thr644=)
c.837A>C (p.Thr279=)
c.426A>C (p.Thr142=)
n.1949A>C
5g.13901481G>ACA3204738DNAH5c.1823C>T (p.Thr608Ile)
c.1778C>T (p.Thr593Ile)
n.2030C>T
c.1931C>T (p.Thr644Ile)
c.836C>T (p.Thr279Ile)
c.425C>T (p.Thr142Ile)
n.1948C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901481G>CCA3204737DNAH5c.1823C>G (p.Thr608Arg)
c.1778C>G (p.Thr593Arg)
n.2030C>G
c.1931C>G (p.Thr644Arg)
c.836C>G (p.Thr279Arg)
c.425C>G (p.Thr142Arg)
n.1948C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901481G=CA1528490480DNAH5c.1823C= (p.Thr608=)
c.1778C= (p.Thr593=)
n.2030C=
c.1931C= (p.Thr644=)
c.836C= (p.Thr279=)
c.425C= (p.Thr142=)
n.1948C=
5g.13901481G>TCA359206361DNAH5c.1823C>A (p.Thr608Lys)
c.1778C>A (p.Thr593Lys)
n.2030C>A
c.1931C>A (p.Thr644Lys)
c.836C>A (p.Thr279Lys)
c.425C>A (p.Thr142Lys)
n.1948C>A
5g.13901481_13901482insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGATCA2673279624DNAH5c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC (p.Thr608AsnfsTer8)
c.1777_1778insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC (p.Thr593AsnfsTer8)
n.2029_2030insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC (p.Thr644AsnfsTer8)
c.835_836insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC (p.Thr279AsnfsTer8)
c.424_425insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC (p.Thr142AsnfsTer8)
n.1947_1948insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
 gnomAD v4
5g.13901482T>ACA359206369DNAH5c.1822A>T (p.Thr608Ser)
c.1777A>T (p.Thr593Ser)
n.2029A>T
c.1930A>T (p.Thr644Ser)
c.835A>T (p.Thr279Ser)
c.424A>T (p.Thr142Ser)
n.1947A>T
5g.13901482T>CCA359206371DNAH5c.1822A>G (p.Thr608Ala)
c.1777A>G (p.Thr593Ala)
n.2029A>G
c.1930A>G (p.Thr644Ala)
c.835A>G (p.Thr279Ala)
c.424A>G (p.Thr142Ala)
n.1947A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13901482T>GCA359206381DNAH5c.1822A>C (p.Thr608Pro)
c.1777A>C (p.Thr593Pro)
n.2029A>C
c.1930A>C (p.Thr644Pro)
c.835A>C (p.Thr279Pro)
c.424A>C (p.Thr142Pro)
n.1947A>C
5g.13901482T=CA1528490481DNAH5c.1822A= (p.Thr608=)
c.1777A= (p.Thr593=)
n.2029A=
c.1930A= (p.Thr644=)
c.835A= (p.Thr279=)
c.424A= (p.Thr142=)
n.1947A=

Number of alleles fetched