Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13901253T>ACA359204691DNAH5c.2051A>T (p.Gln684Leu)
c.2006A>T (p.Gln669Leu)
n.2258A>T
c.2159A>T (p.Gln720Leu)
c.1064A>T (p.Gln355Leu)
c.653A>T (p.Gln218Leu)
n.2176A>T
5g.13901253T>CCA359204692DNAH5c.2051A>G (p.Gln684Arg)
c.2006A>G (p.Gln669Arg)
n.2258A>G
c.2159A>G (p.Gln720Arg)
c.1064A>G (p.Gln355Arg)
c.653A>G (p.Gln218Arg)
n.2176A>G
5g.13901253T>GCA359204693DNAH5c.2051A>C (p.Gln684Pro)
c.2006A>C (p.Gln669Pro)
n.2258A>C
c.2159A>C (p.Gln720Pro)
c.1064A>C (p.Gln355Pro)
c.653A>C (p.Gln218Pro)
n.2176A>C
5g.13901254G>ACA359204694DNAH5c.2050C>T (p.Gln684Ter)
c.2005C>T (p.Gln669Ter)
n.2257C>T
c.2158C>T (p.Gln720Ter)
c.1063C>T (p.Gln355Ter)
c.652C>T (p.Gln218Ter)
n.2175C>T
 ClinVar dbSNP
5g.13901254G>CCA359204697DNAH5c.2050C>G (p.Gln684Glu)
c.2005C>G (p.Gln669Glu)
n.2257C>G
c.2158C>G (p.Gln720Glu)
c.1063C>G (p.Gln355Glu)
c.652C>G (p.Gln218Glu)
n.2175C>G
5g.13901254G=CA1528485806DNAH5c.2050C= (p.Gln684=)
c.2005C= (p.Gln669=)
n.2257C=
c.2158C= (p.Gln720=)
c.1063C= (p.Gln355=)
c.652C= (p.Gln218=)
n.2175C=
5g.13901254G>TCA359204698DNAH5c.2050C>A (p.Gln684Lys)
c.2005C>A (p.Gln669Lys)
n.2257C>A
c.2158C>A (p.Gln720Lys)
c.1063C>A (p.Gln355Lys)
c.652C>A (p.Gln218Lys)
n.2175C>A
5g.13901255C>ACA443536646DNAH5c.2049G>T (p.Arg683=)
c.2004G>T (p.Arg668=)
n.2256G>T
c.2157G>T (p.Arg719=)
c.1062G>T (p.Arg354=)
c.651G>T (p.Arg217=)
n.2174G>T
 gnomAD v4
5g.13901255C>GCA443536648DNAH5c.2049G>C (p.Arg683=)
c.2004G>C (p.Arg668=)
n.2256G>C
c.2157G>C (p.Arg719=)
c.1062G>C (p.Arg354=)
c.651G>C (p.Arg217=)
n.2174G>C
 gnomAD v4
5g.13901255C>TCA443536647DNAH5c.2049G>A (p.Arg683=)
c.2004G>A (p.Arg668=)
n.2256G>A
c.2157G>A (p.Arg719=)
c.1062G>A (p.Arg354=)
c.651G>A (p.Arg217=)
n.2174G>A
5g.13901256C>ACA359204714DNAH5c.2048G>T (p.Arg683Leu)
c.2003G>T (p.Arg668Leu)
n.2255G>T
c.2156G>T (p.Arg719Leu)
c.1061G>T (p.Arg354Leu)
c.650G>T (p.Arg217Leu)
n.2173G>T
5g.13901256C=CA1528485815DNAH5c.2048G= (p.Arg683=)
c.2003G= (p.Arg668=)
n.2255G=
c.2156G= (p.Arg719=)
c.1061G= (p.Arg354=)
c.650G= (p.Arg217=)
n.2173G=
5g.13901256C>GCA359204702DNAH5c.2048G>C (p.Arg683Pro)
c.2003G>C (p.Arg668Pro)
n.2255G>C
c.2156G>C (p.Arg719Pro)
c.1061G>C (p.Arg354Pro)
c.650G>C (p.Arg217Pro)
n.2173G>C
 dbSNP COSMIC
5g.13901256C>TCA3204694DNAH5c.2048G>A (p.Arg683Gln)
c.2003G>A (p.Arg668Gln)
n.2255G>A
c.2156G>A (p.Arg719Gln)
c.1061G>A (p.Arg354Gln)
c.650G>A (p.Arg217Gln)
n.2173G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901257G>ACA3204695DNAH5c.2047C>T (p.Arg683Trp)
c.2002C>T (p.Arg668Trp)
n.2254C>T
c.2155C>T (p.Arg719Trp)
c.1060C>T (p.Arg354Trp)
c.649C>T (p.Arg217Trp)
n.2172C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901257G>CCA359204721DNAH5c.2047C>G (p.Arg683Gly)
c.2002C>G (p.Arg668Gly)
n.2254C>G
c.2155C>G (p.Arg719Gly)
c.1060C>G (p.Arg354Gly)
c.649C>G (p.Arg217Gly)
n.2172C>G
5g.13901257G=CA1528485818DNAH5c.2047C= (p.Arg683=)
c.2002C= (p.Arg668=)
n.2254C=
c.2155C= (p.Arg719=)
c.1060C= (p.Arg354=)
c.649C= (p.Arg217=)
n.2172C=
5g.13901257G>TCA443536650DNAH5c.2047C>A (p.Arg683=)
c.2002C>A (p.Arg668=)
n.2254C>A
c.2155C>A (p.Arg719=)
c.1060C>A (p.Arg354=)
c.649C>A (p.Arg217=)
n.2172C>A
 ClinVar dbSNP gnomAD v2
5g.13901258A>CCA443536651DNAH5c.2046T>G (p.Leu682=)
c.2001T>G (p.Leu667=)
n.2253T>G
c.2154T>G (p.Leu718=)
c.1059T>G (p.Leu353=)
c.648T>G (p.Leu216=)
n.2171T>G
5g.13901258A>GCA443536652DNAH5c.2046T>C (p.Leu682=)
c.2001T>C (p.Leu667=)
n.2253T>C
c.2154T>C (p.Leu718=)
c.1059T>C (p.Leu353=)
c.648T>C (p.Leu216=)
n.2171T>C
5g.13901258A>TCA443536653DNAH5c.2046T>A (p.Leu682=)
c.2001T>A (p.Leu667=)
n.2253T>A
c.2154T>A (p.Leu718=)
c.1059T>A (p.Leu353=)
c.648T>A (p.Leu216=)
n.2171T>A
5g.13901259A>CCA359204725DNAH5c.2045T>G (p.Leu682Arg)
c.2000T>G (p.Leu667Arg)
n.2252T>G
c.2153T>G (p.Leu718Arg)
c.1058T>G (p.Leu353Arg)
c.647T>G (p.Leu216Arg)
n.2170T>G
5g.13901259A>GCA359204726DNAH5c.2045T>C (p.Leu682Pro)
c.2000T>C (p.Leu667Pro)
n.2252T>C
c.2153T>C (p.Leu718Pro)
c.1058T>C (p.Leu353Pro)
c.647T>C (p.Leu216Pro)
n.2170T>C
5g.13901259A>TCA359204731DNAH5c.2045T>A (p.Leu682His)
c.2000T>A (p.Leu667His)
n.2252T>A
c.2153T>A (p.Leu718His)
c.1058T>A (p.Leu353His)
c.647T>A (p.Leu216His)
n.2170T>A
5g.13901260G>ACA359204735DNAH5c.2044C>T (p.Leu682Phe)
c.1999C>T (p.Leu667Phe)
n.2251C>T
c.2152C>T (p.Leu718Phe)
c.1057C>T (p.Leu353Phe)
c.646C>T (p.Leu216Phe)
n.2169C>T
5g.13901260G>CCA359204739DNAH5c.2044C>G (p.Leu682Val)
c.1999C>G (p.Leu667Val)
n.2251C>G
c.2152C>G (p.Leu718Val)
c.1057C>G (p.Leu353Val)
c.646C>G (p.Leu216Val)
n.2169C>G
5g.13901260G>TCA359204741DNAH5c.2044C>A (p.Leu682Ile)
c.1999C>A (p.Leu667Ile)
n.2251C>A
c.2152C>A (p.Leu718Ile)
c.1057C>A (p.Leu353Ile)
c.646C>A (p.Leu216Ile)
n.2169C>A
5g.13901261C>ACA359204745DNAH5c.2043G>T (p.Trp681Cys)
c.1998G>T (p.Trp666Cys)
n.2250G>T
c.2151G>T (p.Trp717Cys)
c.1056G>T (p.Trp352Cys)
c.645G>T (p.Trp215Cys)
n.2168G>T
5g.13901261C>GCA359204748DNAH5c.2043G>C (p.Trp681Cys)
c.1998G>C (p.Trp666Cys)
n.2250G>C
c.2151G>C (p.Trp717Cys)
c.1056G>C (p.Trp352Cys)
c.645G>C (p.Trp215Cys)
n.2168G>C
5g.13901261C>TCA359204753DNAH5c.2043G>A (p.Trp681Ter)
c.1998G>A (p.Trp666Ter)
n.2250G>A
c.2151G>A (p.Trp717Ter)
c.1056G>A (p.Trp352Ter)
c.645G>A (p.Trp215Ter)
n.2168G>A
5g.13901262C>ACA359204757DNAH5c.2042G>T (p.Trp681Leu)
c.1997G>T (p.Trp666Leu)
n.2249G>T
c.2150G>T (p.Trp717Leu)
c.1055G>T (p.Trp352Leu)
c.644G>T (p.Trp215Leu)
n.2167G>T
5g.13901262C>GCA359204759DNAH5c.2042G>C (p.Trp681Ser)
c.1997G>C (p.Trp666Ser)
n.2249G>C
c.2150G>C (p.Trp717Ser)
c.1055G>C (p.Trp352Ser)
c.644G>C (p.Trp215Ser)
n.2167G>C
5g.13901262C>TCA359204763DNAH5c.2042G>A (p.Trp681Ter)
c.1997G>A (p.Trp666Ter)
n.2249G>A
c.2150G>A (p.Trp717Ter)
c.1055G>A (p.Trp352Ter)
c.644G>A (p.Trp215Ter)
n.2167G>A
5g.13901263A>CCA359204769DNAH5c.2041T>G (p.Trp681Gly)
c.1996T>G (p.Trp666Gly)
n.2248T>G
c.2149T>G (p.Trp717Gly)
c.1054T>G (p.Trp352Gly)
c.643T>G (p.Trp215Gly)
n.2166T>G
5g.13901263A>GCA359204773DNAH5c.2041T>C (p.Trp681Arg)
c.1996T>C (p.Trp666Arg)
n.2248T>C
c.2149T>C (p.Trp717Arg)
c.1054T>C (p.Trp352Arg)
c.643T>C (p.Trp215Arg)
n.2166T>C
5g.13901263A>TCA359204768DNAH5c.2041T>A (p.Trp681Arg)
c.1996T>A (p.Trp666Arg)
n.2248T>A
c.2149T>A (p.Trp717Arg)
c.1054T>A (p.Trp352Arg)
c.643T>A (p.Trp215Arg)
n.2166T>A
5g.13901264C>ACA443536656DNAH5c.2040G>T (p.Ala680=)
c.1995G>T (p.Ala665=)
n.2247G>T
c.2148G>T (p.Ala716=)
c.1053G>T (p.Ala351=)
c.642G>T (p.Ala214=)
n.2165G>T
5g.13901264C=CA1528485823DNAH5c.2040G= (p.Ala680=)
c.1995G= (p.Ala665=)
n.2247G=
c.2148G= (p.Ala716=)
c.1053G= (p.Ala351=)
c.642G= (p.Ala214=)
n.2165G=
5g.13901264C>GCA443536658DNAH5c.2040G>C (p.Ala680=)
c.1995G>C (p.Ala665=)
n.2247G>C
c.2148G>C (p.Ala716=)
c.1053G>C (p.Ala351=)
c.642G>C (p.Ala214=)
n.2165G>C
5g.13901264C>TCA3204696DNAH5c.2040G>A (p.Ala680=)
c.1995G>A (p.Ala665=)
n.2247G>A
c.2148G>A (p.Ala716=)
c.1053G>A (p.Ala351=)
c.642G>A (p.Ala214=)
n.2165G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901265G>ACA3204697DNAH5c.2039C>T (p.Ala680Val)
c.1994C>T (p.Ala665Val)
n.2246C>T
c.2147C>T (p.Ala716Val)
c.1052C>T (p.Ala351Val)
c.641C>T (p.Ala214Val)
n.2164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901265G>CCA359204774DNAH5c.2039C>G (p.Ala680Gly)
c.1994C>G (p.Ala665Gly)
n.2246C>G
c.2147C>G (p.Ala716Gly)
c.1052C>G (p.Ala351Gly)
c.641C>G (p.Ala214Gly)
n.2164C>G
5g.13901265G=CA1528485826DNAH5c.2039C= (p.Ala680=)
c.1994C= (p.Ala665=)
n.2246C=
c.2147C= (p.Ala716=)
c.1052C= (p.Ala351=)
c.641C= (p.Ala214=)
n.2164C=
5g.13901265G>TCA359204775DNAH5c.2039C>A (p.Ala680Glu)
c.1994C>A (p.Ala665Glu)
n.2246C>A
c.2147C>A (p.Ala716Glu)
c.1052C>A (p.Ala351Glu)
c.641C>A (p.Ala214Glu)
n.2164C>A
5g.13901266C>ACA359204778DNAH5c.2038G>T (p.Ala680Ser)
c.1993G>T (p.Ala665Ser)
n.2245G>T
c.2146G>T (p.Ala716Ser)
c.1051G>T (p.Ala351Ser)
c.640G>T (p.Ala214Ser)
n.2163G>T
5g.13901266C>GCA359204780DNAH5c.2038G>C (p.Ala680Pro)
c.1993G>C (p.Ala665Pro)
n.2245G>C
c.2146G>C (p.Ala716Pro)
c.1051G>C (p.Ala351Pro)
c.640G>C (p.Ala214Pro)
n.2163G>C
 gnomAD v4
5g.13901266C>TCA359204782DNAH5c.2038G>A (p.Ala680Thr)
c.1993G>A (p.Ala665Thr)
n.2245G>A
c.2146G>A (p.Ala716Thr)
c.1051G>A (p.Ala351Thr)
c.640G>A (p.Ala214Thr)
n.2163G>A
5g.13901267C>ACA359204785DNAH5c.2037G>T (p.Arg679Ser)
c.1992G>T (p.Arg664Ser)
n.2244G>T
c.2145G>T (p.Arg715Ser)
c.1050G>T (p.Arg350Ser)
c.639G>T (p.Arg213Ser)
n.2162G>T
5g.13901267C>GCA359204788DNAH5c.2037G>C (p.Arg679Ser)
c.1992G>C (p.Arg664Ser)
n.2244G>C
c.2145G>C (p.Arg715Ser)
c.1050G>C (p.Arg350Ser)
c.639G>C (p.Arg213Ser)
n.2162G>C
5g.13901267C>TCA443536660DNAH5c.2037G>A (p.Arg679=)
c.1992G>A (p.Arg664=)
n.2244G>A
c.2145G>A (p.Arg715=)
c.1050G>A (p.Arg350=)
c.639G>A (p.Arg213=)
n.2162G>A
 COSMIC
5g.13901268C>ACA359204793DNAH5c.2036G>T (p.Arg679Met)
c.1991G>T (p.Arg664Met)
n.2243G>T
c.2144G>T (p.Arg715Met)
c.1049G>T (p.Arg350Met)
c.638G>T (p.Arg213Met)
n.2161G>T
5g.13901268C>GCA359204795DNAH5c.2036G>C (p.Arg679Thr)
c.1991G>C (p.Arg664Thr)
n.2243G>C
c.2144G>C (p.Arg715Thr)
c.1049G>C (p.Arg350Thr)
c.638G>C (p.Arg213Thr)
n.2161G>C
5g.13901268C>TCA359204799DNAH5c.2036G>A (p.Arg679Lys)
c.1991G>A (p.Arg664Lys)
n.2243G>A
c.2144G>A (p.Arg715Lys)
c.1049G>A (p.Arg350Lys)
c.638G>A (p.Arg213Lys)
n.2161G>A
5g.13901269T>ACA359204802DNAH5c.2035A>T (p.Arg679Trp)
c.1990A>T (p.Arg664Trp)
n.2242A>T
c.2143A>T (p.Arg715Trp)
c.1048A>T (p.Arg350Trp)
c.637A>T (p.Arg213Trp)
n.2160A>T
5g.13901269T>CCA3204698DNAH5c.2035A>G (p.Arg679Gly)
c.1990A>G (p.Arg664Gly)
n.2242A>G
c.2143A>G (p.Arg715Gly)
c.1048A>G (p.Arg350Gly)
c.637A>G (p.Arg213Gly)
n.2160A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901269T>GCA443536661DNAH5c.2035A>C (p.Arg679=)
c.1990A>C (p.Arg664=)
n.2242A>C
c.2143A>C (p.Arg715=)
c.1048A>C (p.Arg350=)
c.637A>C (p.Arg213=)
n.2160A>C
5g.13901269T=CA1528485829DNAH5c.2035A= (p.Arg679=)
c.1990A= (p.Arg664=)
n.2242A=
c.2143A= (p.Arg715=)
c.1048A= (p.Arg350=)
c.637A= (p.Arg213=)
n.2160A=
5g.13901270G>ACA443536663DNAH5c.2034C>T (p.His678=)
c.1989C>T (p.His663=)
n.2241C>T
c.2142C>T (p.His714=)
c.1047C>T (p.His349=)
c.636C>T (p.His212=)
n.2159C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13901270G>CCA359204805DNAH5c.2034C>G (p.His678Gln)
c.1989C>G (p.His663Gln)
n.2241C>G
c.2142C>G (p.His714Gln)
c.1047C>G (p.His349Gln)
c.636C>G (p.His212Gln)
n.2159C>G
5g.13901270G=CA1528485831DNAH5c.2034C= (p.His678=)
c.1989C= (p.His663=)
n.2241C=
c.2142C= (p.His714=)
c.1047C= (p.His349=)
c.636C= (p.His212=)
n.2159C=
5g.13901270G>TCA359204807DNAH5c.2034C>A (p.His678Gln)
c.1989C>A (p.His663Gln)
n.2241C>A
c.2142C>A (p.His714Gln)
c.1047C>A (p.His349Gln)
c.636C>A (p.His212Gln)
n.2159C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901271T>ACA359204810DNAH5c.2033A>T (p.His678Leu)
c.1988A>T (p.His663Leu)
n.2240A>T
c.2141A>T (p.His714Leu)
c.1046A>T (p.His349Leu)
c.635A>T (p.His212Leu)
n.2158A>T
5g.13901271T>CCA359204812DNAH5c.2033A>G (p.His678Arg)
c.1988A>G (p.His663Arg)
n.2240A>G
c.2141A>G (p.His714Arg)
c.1046A>G (p.His349Arg)
c.635A>G (p.His212Arg)
n.2158A>G
 dbSNP
5g.13901271T>GCA359204815DNAH5c.2033A>C (p.His678Pro)
c.1988A>C (p.His663Pro)
n.2240A>C
c.2141A>C (p.His714Pro)
c.1046A>C (p.His349Pro)
c.635A>C (p.His212Pro)
n.2158A>C
5g.13901271T=CA1528485833DNAH5c.2033A= (p.His678=)
c.1988A= (p.His663=)
n.2240A=
c.2141A= (p.His714=)
c.1046A= (p.His349=)
c.635A= (p.His212=)
n.2158A=
5g.13901272G>ACA113944088DNAH5c.2032C>T (p.His678Tyr)
c.1987C>T (p.His663Tyr)
n.2239C>T
c.2140C>T (p.His714Tyr)
c.1045C>T (p.His349Tyr)
c.634C>T (p.His212Tyr)
n.2157C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901272G>CCA359204821DNAH5c.2032C>G (p.His678Asp)
c.1987C>G (p.His663Asp)
n.2239C>G
c.2140C>G (p.His714Asp)
c.1045C>G (p.His349Asp)
c.634C>G (p.His212Asp)
n.2157C>G
5g.13901272G=CA1528485837DNAH5c.2032C= (p.His678=)
c.1987C= (p.His663=)
n.2239C=
c.2140C= (p.His714=)
c.1045C= (p.His349=)
c.634C= (p.His212=)
n.2157C=
5g.13901272G>TCA359204827DNAH5c.2032C>A (p.His678Asn)
c.1987C>A (p.His663Asn)
n.2239C>A
c.2140C>A (p.His714Asn)
c.1045C>A (p.His349Asn)
c.634C>A (p.His212Asn)
n.2157C>A
5g.13901273G>ACA443536667DNAH5c.2031C>T (p.Phe677=)
c.1986C>T (p.Phe662=)
n.2238C>T
c.2139C>T (p.Phe713=)
c.1044C>T (p.Phe348=)
c.633C>T (p.Phe211=)
n.2156C>T
 gnomAD v4 COSMIC
5g.13901273G>CCA359204829DNAH5c.2031C>G (p.Phe677Leu)
c.1986C>G (p.Phe662Leu)
n.2238C>G
c.2139C>G (p.Phe713Leu)
c.1044C>G (p.Phe348Leu)
c.633C>G (p.Phe211Leu)
n.2156C>G
5g.13901273G>TCA359204832DNAH5c.2031C>A (p.Phe677Leu)
c.1986C>A (p.Phe662Leu)
n.2238C>A
c.2139C>A (p.Phe713Leu)
c.1044C>A (p.Phe348Leu)
c.633C>A (p.Phe211Leu)
n.2156C>A
5g.13901274A>CCA359204834DNAH5c.2030T>G (p.Phe677Cys)
c.1985T>G (p.Phe662Cys)
n.2237T>G
c.2138T>G (p.Phe713Cys)
c.1043T>G (p.Phe348Cys)
c.632T>G (p.Phe211Cys)
n.2155T>G
5g.13901274A>GCA359204839DNAH5c.2030T>C (p.Phe677Ser)
c.1985T>C (p.Phe662Ser)
n.2237T>C
c.2138T>C (p.Phe713Ser)
c.1043T>C (p.Phe348Ser)
c.632T>C (p.Phe211Ser)
n.2155T>C
5g.13901274A>TCA359204840DNAH5c.2030T>A (p.Phe677Tyr)
c.1985T>A (p.Phe662Tyr)
n.2237T>A
c.2138T>A (p.Phe713Tyr)
c.1043T>A (p.Phe348Tyr)
c.632T>A (p.Phe211Tyr)
n.2155T>A
5g.13901275A>CCA359204846DNAH5c.2029T>G (p.Phe677Val)
c.1984T>G (p.Phe662Val)
n.2236T>G
c.2137T>G (p.Phe713Val)
c.1042T>G (p.Phe348Val)
c.631T>G (p.Phe211Val)
n.2154T>G
5g.13901275A>GCA359204845DNAH5c.2029T>C (p.Phe677Leu)
c.1984T>C (p.Phe662Leu)
n.2236T>C
c.2137T>C (p.Phe713Leu)
c.1042T>C (p.Phe348Leu)
c.631T>C (p.Phe211Leu)
n.2154T>C
5g.13901275A>TCA359204843DNAH5c.2029T>A (p.Phe677Ile)
c.1984T>A (p.Phe662Ile)
n.2236T>A
c.2137T>A (p.Phe713Ile)
c.1042T>A (p.Phe348Ile)
c.631T>A (p.Phe211Ile)
n.2154T>A
5g.13901276G>ACA443536670DNAH5c.2028C>T (p.Leu676=)
c.1983C>T (p.Leu661=)
n.2235C>T
c.2136C>T (p.Leu712=)
c.1041C>T (p.Leu347=)
c.630C>T (p.Leu210=)
n.2153C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901276G>CCA443536671DNAH5c.2028C>G (p.Leu676=)
c.1983C>G (p.Leu661=)
n.2235C>G
c.2136C>G (p.Leu712=)
c.1041C>G (p.Leu347=)
c.630C>G (p.Leu210=)
n.2153C>G
 dbSNP
5g.13901276G=CA1528485843DNAH5c.2028C= (p.Leu676=)
c.1983C= (p.Leu661=)
n.2235C=
c.2136C= (p.Leu712=)
c.1041C= (p.Leu347=)
c.630C= (p.Leu210=)
n.2153C=
5g.13901276G>TCA443536672DNAH5c.2028C>A (p.Leu676=)
c.1983C>A (p.Leu661=)
n.2235C>A
c.2136C>A (p.Leu712=)
c.1041C>A (p.Leu347=)
c.630C>A (p.Leu210=)
n.2153C>A
5g.13901277A>CCA359204848DNAH5c.2027T>G (p.Leu676Arg)
c.1982T>G (p.Leu661Arg)
n.2234T>G
c.2135T>G (p.Leu712Arg)
c.1040T>G (p.Leu347Arg)
c.629T>G (p.Leu210Arg)
n.2152T>G
5g.13901277A>GCA359204854DNAH5c.2027T>C (p.Leu676Pro)
c.1982T>C (p.Leu661Pro)
n.2234T>C
c.2135T>C (p.Leu712Pro)
c.1040T>C (p.Leu347Pro)
c.629T>C (p.Leu210Pro)
n.2152T>C
5g.13901277A>TCA359204852DNAH5c.2027T>A (p.Leu676His)
c.1982T>A (p.Leu661His)
n.2234T>A
c.2135T>A (p.Leu712His)
c.1040T>A (p.Leu347His)
c.629T>A (p.Leu210His)
n.2152T>A
5g.13901278G>ACA359204855DNAH5c.2026C>T (p.Leu676Phe)
c.1981C>T (p.Leu661Phe)
n.2233C>T
c.2134C>T (p.Leu712Phe)
c.1039C>T (p.Leu347Phe)
c.628C>T (p.Leu210Phe)
n.2151C>T
 COSMIC
5g.13901278G>CCA359204857DNAH5c.2026C>G (p.Leu676Val)
c.1981C>G (p.Leu661Val)
n.2233C>G
c.2134C>G (p.Leu712Val)
c.1039C>G (p.Leu347Val)
c.628C>G (p.Leu210Val)
n.2151C>G
5g.13901278G>TCA359204856DNAH5c.2026C>A (p.Leu676Ile)
c.1981C>A (p.Leu661Ile)
n.2233C>A
c.2134C>A (p.Leu712Ile)
c.1039C>A (p.Leu347Ile)
c.628C>A (p.Leu210Ile)
n.2151C>A
5g.13901279G>ACA443536673DNAH5c.2025C>T (p.Val675=)
c.1980C>T (p.Val660=)
n.2232C>T
c.2133C>T (p.Val711=)
c.1038C>T (p.Val346=)
c.627C>T (p.Val209=)
n.2150C>T
 COSMIC
5g.13901279G>CCA443536675DNAH5c.2025C>G (p.Val675=)
c.1980C>G (p.Val660=)
n.2232C>G
c.2133C>G (p.Val711=)
c.1038C>G (p.Val346=)
c.627C>G (p.Val209=)
n.2150C>G
 ClinVar dbSNP gnomAD v4
5g.13901279G=CA1528485848DNAH5c.2025C= (p.Val675=)
c.1980C= (p.Val660=)
n.2232C=
c.2133C= (p.Val711=)
c.1038C= (p.Val346=)
c.627C= (p.Val209=)
n.2150C=
5g.13901279G>TCA443536676DNAH5c.2025C>A (p.Val675=)
c.1980C>A (p.Val660=)
n.2232C>A
c.2133C>A (p.Val711=)
c.1038C>A (p.Val346=)
c.627C>A (p.Val209=)
n.2150C>A
5g.13901280A=CA1528485851DNAH5c.2024T= (p.Val675=)
c.1979T= (p.Val660=)
n.2231T=
c.2132T= (p.Val711=)
c.1037T= (p.Val346=)
c.626T= (p.Val209=)
n.2149T=
5g.13901280A>CCA359204860DNAH5c.2024T>G (p.Val675Gly)
c.1979T>G (p.Val660Gly)
n.2231T>G
c.2132T>G (p.Val711Gly)
c.1037T>G (p.Val346Gly)
c.626T>G (p.Val209Gly)
n.2149T>G
5g.13901280A>GCA359204862DNAH5c.2024T>C (p.Val675Ala)
c.1979T>C (p.Val660Ala)
n.2231T>C
c.2132T>C (p.Val711Ala)
c.1037T>C (p.Val346Ala)
c.626T>C (p.Val209Ala)
n.2149T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13901280A>TCA359204864DNAH5c.2024T>A (p.Val675Asp)
c.1979T>A (p.Val660Asp)
n.2231T>A
c.2132T>A (p.Val711Asp)
c.1037T>A (p.Val346Asp)
c.626T>A (p.Val209Asp)
n.2149T>A
5g.13901281C>ACA359204867DNAH5c.2023G>T (p.Val675Phe)
c.1978G>T (p.Val660Phe)
n.2230G>T
c.2131G>T (p.Val711Phe)
c.1036G>T (p.Val346Phe)
c.625G>T (p.Val209Phe)
n.2148G>T
5g.13901281C>GCA359204868DNAH5c.2023G>C (p.Val675Leu)
c.1978G>C (p.Val660Leu)
n.2230G>C
c.2131G>C (p.Val711Leu)
c.1036G>C (p.Val346Leu)
c.625G>C (p.Val209Leu)
n.2148G>C
5g.13901281C>TCA359204869DNAH5c.2023G>A (p.Val675Ile)
c.1978G>A (p.Val660Ile)
n.2230G>A
c.2131G>A (p.Val711Ile)
c.1036G>A (p.Val346Ile)
c.625G>A (p.Val209Ile)
n.2148G>A
 COSMIC
5g.13901282C>ACA359204871DNAH5c.2022G>T (p.Glu674Asp)
c.1977G>T (p.Glu659Asp)
n.2229G>T
c.2130G>T (p.Glu710Asp)
c.1035G>T (p.Glu345Asp)
c.624G>T (p.Glu208Asp)
n.2147G>T
5g.13901282C=CA1528485853DNAH5c.2022G= (p.Glu674=)
c.1977G= (p.Glu659=)
n.2229G=
c.2130G= (p.Glu710=)
c.1035G= (p.Glu345=)
c.624G= (p.Glu208=)
n.2147G=
5g.13901282C>GCA3204699DNAH5c.2022G>C (p.Glu674Asp)
c.1977G>C (p.Glu659Asp)
n.2229G>C
c.2130G>C (p.Glu710Asp)
c.1035G>C (p.Glu345Asp)
c.624G>C (p.Glu208Asp)
n.2147G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901282C>TCA443536677DNAH5c.2022G>A (p.Glu674=)
c.1977G>A (p.Glu659=)
n.2229G>A
c.2130G>A (p.Glu710=)
c.1035G>A (p.Glu345=)
c.624G>A (p.Glu208=)
n.2147G>A
5g.13901283T>ACA359204875DNAH5c.2021A>T (p.Glu674Val)
c.1976A>T (p.Glu659Val)
n.2228A>T
c.2129A>T (p.Glu710Val)
c.1034A>T (p.Glu345Val)
c.623A>T (p.Glu208Val)
n.2146A>T
5g.13901283T>CCA359204878DNAH5c.2021A>G (p.Glu674Gly)
c.1976A>G (p.Glu659Gly)
n.2228A>G
c.2129A>G (p.Glu710Gly)
c.1034A>G (p.Glu345Gly)
c.623A>G (p.Glu208Gly)
n.2146A>G
5g.13901283T>GCA359204889DNAH5c.2021A>C (p.Glu674Ala)
c.1976A>C (p.Glu659Ala)
n.2228A>C
c.2129A>C (p.Glu710Ala)
c.1034A>C (p.Glu345Ala)
c.623A>C (p.Glu208Ala)
n.2146A>C
5g.13901284C>ACA359204896DNAH5c.2020G>T (p.Glu674Ter)
c.1975G>T (p.Glu659Ter)
n.2227G>T
c.2128G>T (p.Glu710Ter)
c.1033G>T (p.Glu345Ter)
c.622G>T (p.Glu208Ter)
n.2145G>T
5g.13901284C>GCA359204892DNAH5c.2020G>C (p.Glu674Gln)
c.1975G>C (p.Glu659Gln)
n.2227G>C
c.2128G>C (p.Glu710Gln)
c.1033G>C (p.Glu345Gln)
c.622G>C (p.Glu208Gln)
n.2145G>C
5g.13901284C>TCA359204894DNAH5c.2020G>A (p.Glu674Lys)
c.1975G>A (p.Glu659Lys)
n.2227G>A
c.2128G>A (p.Glu710Lys)
c.1033G>A (p.Glu345Lys)
c.622G>A (p.Glu208Lys)
n.2145G>A
5g.13901285A=CA1528490390DNAH5c.2019T= (p.Phe673=)
c.1974T= (p.Phe658=)
n.2226T=
c.2127T= (p.Phe709=)
c.1032T= (p.Phe344=)
c.621T= (p.Phe207=)
n.2144T=
5g.13901285A>CCA359204900DNAH5c.2019T>G (p.Phe673Leu)
c.1974T>G (p.Phe658Leu)
n.2226T>G
c.2127T>G (p.Phe709Leu)
c.1032T>G (p.Phe344Leu)
c.621T>G (p.Phe207Leu)
n.2144T>G
5g.13901285A>GCA443536678DNAH5c.2019T>C (p.Phe673=)
c.1974T>C (p.Phe658=)
n.2226T>C
c.2127T>C (p.Phe709=)
c.1032T>C (p.Phe344=)
c.621T>C (p.Phe207=)
n.2144T>C
 dbSNP
5g.13901285A>TCA359204903DNAH5c.2019T>A (p.Phe673Leu)
c.1974T>A (p.Phe658Leu)
n.2226T>A
c.2127T>A (p.Phe709Leu)
c.1032T>A (p.Phe344Leu)
c.621T>A (p.Phe207Leu)
n.2144T>A
5g.13901286A>CCA359204905DNAH5c.2018T>G (p.Phe673Cys)
c.1973T>G (p.Phe658Cys)
n.2225T>G
c.2126T>G (p.Phe709Cys)
c.1031T>G (p.Phe344Cys)
c.620T>G (p.Phe207Cys)
n.2143T>G
5g.13901286A>GCA359204910DNAH5c.2018T>C (p.Phe673Ser)
c.1973T>C (p.Phe658Ser)
n.2225T>C
c.2126T>C (p.Phe709Ser)
c.1031T>C (p.Phe344Ser)
c.620T>C (p.Phe207Ser)
n.2143T>C
5g.13901286A>TCA359204914DNAH5c.2018T>A (p.Phe673Tyr)
c.1973T>A (p.Phe658Tyr)
n.2225T>A
c.2126T>A (p.Phe709Tyr)
c.1031T>A (p.Phe344Tyr)
c.620T>A (p.Phe207Tyr)
n.2143T>A
5g.13901287A>CCA359204917DNAH5c.2017T>G (p.Phe673Val)
c.1972T>G (p.Phe658Val)
n.2224T>G
c.2125T>G (p.Phe709Val)
c.1030T>G (p.Phe344Val)
c.619T>G (p.Phe207Val)
n.2142T>G
5g.13901287A>GCA359204920DNAH5c.2017T>C (p.Phe673Leu)
c.1972T>C (p.Phe658Leu)
n.2224T>C
c.2125T>C (p.Phe709Leu)
c.1030T>C (p.Phe344Leu)
c.619T>C (p.Phe207Leu)
n.2142T>C
5g.13901287A>TCA359204922DNAH5c.2017T>A (p.Phe673Ile)
c.1972T>A (p.Phe658Ile)
n.2224T>A
c.2125T>A (p.Phe709Ile)
c.1030T>A (p.Phe344Ile)
c.619T>A (p.Phe207Ile)
n.2142T>A
5g.13901288C>ACA359204924DNAH5c.2016G>T (p.Glu672Asp)
c.1971G>T (p.Glu657Asp)
n.2223G>T
c.2124G>T (p.Glu708Asp)
c.1029G>T (p.Glu343Asp)
c.618G>T (p.Glu206Asp)
n.2141G>T
5g.13901288C>GCA359204927DNAH5c.2016G>C (p.Glu672Asp)
c.1971G>C (p.Glu657Asp)
n.2223G>C
c.2124G>C (p.Glu708Asp)
c.1029G>C (p.Glu343Asp)
c.618G>C (p.Glu206Asp)
n.2141G>C
5g.13901288C>TCA443536680DNAH5c.2016G>A (p.Glu672=)
c.1971G>A (p.Glu657=)
n.2223G>A
c.2124G>A (p.Glu708=)
c.1029G>A (p.Glu343=)
c.618G>A (p.Glu206=)
n.2141G>A
 gnomAD v4
5g.13901289T>ACA359204933DNAH5c.2015A>T (p.Glu672Val)
c.1970A>T (p.Glu657Val)
n.2222A>T
c.2123A>T (p.Glu708Val)
c.1028A>T (p.Glu343Val)
c.617A>T (p.Glu206Val)
n.2140A>T
5g.13901289T>CCA359204936DNAH5c.2015A>G (p.Glu672Gly)
c.1970A>G (p.Glu657Gly)
n.2222A>G
c.2123A>G (p.Glu708Gly)
c.1028A>G (p.Glu343Gly)
c.617A>G (p.Glu206Gly)
n.2140A>G
5g.13901289T>GCA359204930DNAH5c.2015A>C (p.Glu672Ala)
c.1970A>C (p.Glu657Ala)
n.2222A>C
c.2123A>C (p.Glu708Ala)
c.1028A>C (p.Glu343Ala)
c.617A>C (p.Glu206Ala)
n.2140A>C
5g.13901290C>ACA359204939DNAH5c.2014G>T (p.Glu672Ter)
c.1969G>T (p.Glu657Ter)
n.2221G>T
c.2122G>T (p.Glu708Ter)
c.1027G>T (p.Glu343Ter)
c.616G>T (p.Glu206Ter)
n.2139G>T
 COSMIC
5g.13901290C=CA1528490391DNAH5c.2014G= (p.Glu672=)
c.1969G= (p.Glu657=)
n.2221G=
c.2122G= (p.Glu708=)
c.1027G= (p.Glu343=)
c.616G= (p.Glu206=)
n.2139G=
5g.13901290C>GCA359204941DNAH5c.2014G>C (p.Glu672Gln)
c.1969G>C (p.Glu657Gln)
n.2221G>C
c.2122G>C (p.Glu708Gln)
c.1027G>C (p.Glu343Gln)
c.616G>C (p.Glu206Gln)
n.2139G>C
5g.13901290C>TCA3204700DNAH5c.2014G>A (p.Glu672Lys)
c.1969G>A (p.Glu657Lys)
n.2221G>A
c.2122G>A (p.Glu708Lys)
c.1027G>A (p.Glu343Lys)
c.616G>A (p.Glu206Lys)
n.2139G>A
 dbSNP ExAC gnomAD v2
5g.13901291C>ACA443536682DNAH5c.2013G>T (p.Leu671=)
c.1968G>T (p.Leu656=)
n.2220G>T
c.2121G>T (p.Leu707=)
c.1026G>T (p.Leu342=)
c.615G>T (p.Leu205=)
n.2138G>T
5g.13901291C>GCA443536683DNAH5c.2013G>C (p.Leu671=)
c.1968G>C (p.Leu656=)
n.2220G>C
c.2121G>C (p.Leu707=)
c.1026G>C (p.Leu342=)
c.615G>C (p.Leu205=)
n.2138G>C
5g.13901291C>TCA443536684DNAH5c.2013G>A (p.Leu671=)
c.1968G>A (p.Leu656=)
n.2220G>A
c.2121G>A (p.Leu707=)
c.1026G>A (p.Leu342=)
c.615G>A (p.Leu205=)
n.2138G>A
 COSMIC
5g.13901292A>CCA359204946DNAH5c.2012T>G (p.Leu671Arg)
c.1967T>G (p.Leu656Arg)
n.2219T>G
c.2120T>G (p.Leu707Arg)
c.1025T>G (p.Leu342Arg)
c.614T>G (p.Leu205Arg)
n.2137T>G
5g.13901292A>GCA359204947DNAH5c.2012T>C (p.Leu671Pro)
c.1967T>C (p.Leu656Pro)
n.2219T>C
c.2120T>C (p.Leu707Pro)
c.1025T>C (p.Leu342Pro)
c.614T>C (p.Leu205Pro)
n.2137T>C
 gnomAD v4
5g.13901292A>TCA359204948DNAH5c.2012T>A (p.Leu671Gln)
c.1967T>A (p.Leu656Gln)
n.2219T>A
c.2120T>A (p.Leu707Gln)
c.1025T>A (p.Leu342Gln)
c.614T>A (p.Leu205Gln)
n.2137T>A
5g.13901292_13901293delinsAGCA1528490392DNAH5c.2011_2012delinsCT (p.Leu671=)
c.1966_1967delinsCT (p.Leu656=)
n.2218_2219delinsCT
c.2119_2120delinsCT (p.Leu707=)
c.1024_1025delinsCT (p.Leu342=)
c.613_614delinsCT (p.Leu205=)
n.2136_2137delinsCT
5g.13901293G>ACA443536686DNAH5c.2011C>T (p.Leu671=)
c.1966C>T (p.Leu656=)
n.2218C>T
c.2119C>T (p.Leu707=)
c.1024C>T (p.Leu342=)
c.613C>T (p.Leu205=)
n.2136C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13901293G>CCA359204950DNAH5c.2011C>G (p.Leu671Val)
c.1966C>G (p.Leu656Val)
n.2218C>G
c.2119C>G (p.Leu707Val)
c.1024C>G (p.Leu342Val)
c.613C>G (p.Leu205Val)
n.2136C>G
5g.13901293G=CA1528490393DNAH5c.2011C= (p.Leu671=)
c.1966C= (p.Leu656=)
n.2218C=
c.2119C= (p.Leu707=)
c.1024C= (p.Leu342=)
c.613C= (p.Leu205=)
n.2136C=
5g.13901293G>TCA359204949DNAH5c.2011C>A (p.Leu671Met)
c.1966C>A (p.Leu656Met)
n.2218C>A
c.2119C>A (p.Leu707Met)
c.1024C>A (p.Leu342Met)
c.613C>A (p.Leu205Met)
n.2136C>A
5g.13901294delCA804559170DNAH5c.2011del (p.Leu671TrpfsTer20)
c.1966del (p.Leu656TrpfsTer20)
n.2218del
c.2119del (p.Leu707TrpfsTer20)
c.1024del (p.Leu342TrpfsTer20)
c.613del (p.Leu205TrpfsTer20)
n.2136del
 dbSNP
5g.13901294G>ACA443536687DNAH5c.2010C>T (p.Leu670=)
c.1965C>T (p.Leu655=)
n.2217C>T
c.2118C>T (p.Leu706=)
c.1023C>T (p.Leu341=)
c.612C>T (p.Leu204=)
n.2135C>T
 gnomAD v4
5g.13901294G>CCA443536688DNAH5c.2010C>G (p.Leu670=)
c.1965C>G (p.Leu655=)
n.2217C>G
c.2118C>G (p.Leu706=)
c.1023C>G (p.Leu341=)
c.612C>G (p.Leu204=)
n.2135C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901294G=CA1528490394DNAH5c.2010C= (p.Leu670=)
c.1965C= (p.Leu655=)
n.2217C=
c.2118C= (p.Leu706=)
c.1023C= (p.Leu341=)
c.612C= (p.Leu204=)
n.2135C=
5g.13901294G>TCA443536689DNAH5c.2010C>A (p.Leu670=)
c.1965C>A (p.Leu655=)
n.2217C>A
c.2118C>A (p.Leu706=)
c.1023C>A (p.Leu341=)
c.612C>A (p.Leu204=)
n.2135C>A
5g.13901295A>CCA359204952DNAH5c.2009T>G (p.Leu670Arg)
c.1964T>G (p.Leu655Arg)
n.2216T>G
c.2117T>G (p.Leu706Arg)
c.1022T>G (p.Leu341Arg)
c.611T>G (p.Leu204Arg)
n.2134T>G
5g.13901295A>GCA359204954DNAH5c.2009T>C (p.Leu670Pro)
c.1964T>C (p.Leu655Pro)
n.2216T>C
c.2117T>C (p.Leu706Pro)
c.1022T>C (p.Leu341Pro)
c.611T>C (p.Leu204Pro)
n.2134T>C
5g.13901295A>TCA359204955DNAH5c.2009T>A (p.Leu670His)
c.1964T>A (p.Leu655His)
n.2216T>A
c.2117T>A (p.Leu706His)
c.1022T>A (p.Leu341His)
c.611T>A (p.Leu204His)
n.2134T>A
5g.13901296G>ACA359204956DNAH5c.2008C>T (p.Leu670Phe)
c.1963C>T (p.Leu655Phe)
n.2215C>T
c.2116C>T (p.Leu706Phe)
c.1021C>T (p.Leu341Phe)
c.610C>T (p.Leu204Phe)
n.2133C>T
 dbSNP gnomAD v4
5g.13901296G>CCA359204957DNAH5c.2008C>G (p.Leu670Val)
c.1963C>G (p.Leu655Val)
n.2215C>G
c.2116C>G (p.Leu706Val)
c.1021C>G (p.Leu341Val)
c.610C>G (p.Leu204Val)
n.2133C>G
5g.13901296G=CA1528490395DNAH5c.2008C= (p.Leu670=)
c.1963C= (p.Leu655=)
n.2215C=
c.2116C= (p.Leu706=)
c.1021C= (p.Leu341=)
c.610C= (p.Leu204=)
n.2133C=
5g.13901296G>TCA359204958DNAH5c.2008C>A (p.Leu670Ile)
c.1963C>A (p.Leu655Ile)
n.2215C>A
c.2116C>A (p.Leu706Ile)
c.1021C>A (p.Leu341Ile)
c.610C>A (p.Leu204Ile)
n.2133C>A
 dbSNP
5g.13901297delCA2578271073DNAH5c.2008del (p.Leu670SerfsTer21)
c.1963del (p.Leu655SerfsTer21)
n.2215del
c.2116del (p.Leu706SerfsTer21)
c.1021del (p.Leu341SerfsTer21)
c.610del (p.Leu204SerfsTer21)
n.2133del
5g.13901297G>ACA443536693DNAH5c.2007C>T (p.Val669=)
c.1962C>T (p.Val654=)
n.2214C>T
c.2115C>T (p.Val705=)
c.1020C>T (p.Val340=)
c.609C>T (p.Val203=)
n.2132C>T
 ClinVar
5g.13901297G>CCA443536694DNAH5c.2007C>G (p.Val669=)
c.1962C>G (p.Val654=)
n.2214C>G
c.2115C>G (p.Val705=)
c.1020C>G (p.Val340=)
c.609C>G (p.Val203=)
n.2132C>G
 dbSNP gnomAD v4
5g.13901297G=CA1528490396DNAH5c.2007C= (p.Val669=)
c.1962C= (p.Val654=)
n.2214C=
c.2115C= (p.Val705=)
c.1020C= (p.Val340=)
c.609C= (p.Val203=)
n.2132C=
5g.13901297G>TCA443536695DNAH5c.2007C>A (p.Val669=)
c.1962C>A (p.Val654=)
n.2214C>A
c.2115C>A (p.Val705=)
c.1020C>A (p.Val340=)
c.609C>A (p.Val203=)
n.2132C>A
5g.13901298A>CCA359204961DNAH5c.2006T>G (p.Val669Gly)
c.1961T>G (p.Val654Gly)
n.2213T>G
c.2114T>G (p.Val705Gly)
c.1019T>G (p.Val340Gly)
c.608T>G (p.Val203Gly)
n.2131T>G
5g.13901298A>GCA359204972DNAH5c.2006T>C (p.Val669Ala)
c.1961T>C (p.Val654Ala)
n.2213T>C
c.2114T>C (p.Val705Ala)
c.1019T>C (p.Val340Ala)
c.608T>C (p.Val203Ala)
n.2131T>C
5g.13901298A>TCA359204964DNAH5c.2006T>A (p.Val669Asp)
c.1961T>A (p.Val654Asp)
n.2213T>A
c.2114T>A (p.Val705Asp)
c.1019T>A (p.Val340Asp)
c.608T>A (p.Val203Asp)
n.2131T>A
5g.13901299C>ACA359204975DNAH5c.2005G>T (p.Val669Phe)
c.1960G>T (p.Val654Phe)
n.2212G>T
c.2113G>T (p.Val705Phe)
c.1018G>T (p.Val340Phe)
c.607G>T (p.Val203Phe)
n.2130G>T
 gnomAD v4
5g.13901299C>GCA359204978DNAH5c.2005G>C (p.Val669Leu)
c.1960G>C (p.Val654Leu)
n.2212G>C
c.2113G>C (p.Val705Leu)
c.1018G>C (p.Val340Leu)
c.607G>C (p.Val203Leu)
n.2130G>C
5g.13901299C>TCA359204982DNAH5c.2005G>A (p.Val669Ile)
c.1960G>A (p.Val654Ile)
n.2212G>A
c.2113G>A (p.Val705Ile)
c.1018G>A (p.Val340Ile)
c.607G>A (p.Val203Ile)
n.2130G>A
5g.13901300C>ACA359204986DNAH5c.2004G>T (p.Lys668Asn)
c.1959G>T (p.Lys653Asn)
n.2211G>T
c.2112G>T (p.Lys704Asn)
c.1017G>T (p.Lys339Asn)
c.606G>T (p.Lys202Asn)
n.2129G>T
5g.13901300C=CA1528490397DNAH5c.2004G= (p.Lys668=)
c.1959G= (p.Lys653=)
n.2211G=
c.2112G= (p.Lys704=)
c.1017G= (p.Lys339=)
c.606G= (p.Lys202=)
n.2129G=
5g.13901300C>GCA359204989DNAH5c.2004G>C (p.Lys668Asn)
c.1959G>C (p.Lys653Asn)
n.2211G>C
c.2112G>C (p.Lys704Asn)
c.1017G>C (p.Lys339Asn)
c.606G>C (p.Lys202Asn)
n.2129G>C
 ClinVar dbSNP
5g.13901300C>TCA443536699DNAH5c.2004G>A (p.Lys668=)
c.1959G>A (p.Lys653=)
n.2211G>A
c.2112G>A (p.Lys704=)
c.1017G>A (p.Lys339=)
c.606G>A (p.Lys202=)
n.2129G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13901301T>ACA359204991DNAH5c.2003A>T (p.Lys668Met)
c.1958A>T (p.Lys653Met)
n.2210A>T
c.2111A>T (p.Lys704Met)
c.1016A>T (p.Lys339Met)
c.605A>T (p.Lys202Met)
n.2128A>T
5g.13901301T>CCA359204993DNAH5c.2003A>G (p.Lys668Arg)
c.1958A>G (p.Lys653Arg)
n.2210A>G
c.2111A>G (p.Lys704Arg)
c.1016A>G (p.Lys339Arg)
c.605A>G (p.Lys202Arg)
n.2128A>G
5g.13901301T>GCA359204995DNAH5c.2003A>C (p.Lys668Thr)
c.1958A>C (p.Lys653Thr)
n.2210A>C
c.2111A>C (p.Lys704Thr)
c.1016A>C (p.Lys339Thr)
c.605A>C (p.Lys202Thr)
n.2128A>C
5g.13901302dupCA2673279621DNAH5c.2003dup (p.Val669GlyfsTer6)
c.1958dup (p.Val654GlyfsTer6)
n.2210dup
c.2111dup (p.Val705GlyfsTer6)
c.1016dup (p.Val340GlyfsTer6)
c.605dup (p.Val203GlyfsTer6)
n.2128dup
 gnomAD v4
5g.13901302T>ACA359204998DNAH5c.2002A>T (p.Lys668Ter)
c.1957A>T (p.Lys653Ter)
n.2209A>T
c.2110A>T (p.Lys704Ter)
c.1015A>T (p.Lys339Ter)
c.604A>T (p.Lys202Ter)
n.2127A>T
5g.13901302T>CCA359205001DNAH5c.2002A>G (p.Lys668Glu)
c.1957A>G (p.Lys653Glu)
n.2209A>G
c.2110A>G (p.Lys704Glu)
c.1015A>G (p.Lys339Glu)
c.604A>G (p.Lys202Glu)
n.2127A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13901302T>GCA359205003DNAH5c.2002A>C (p.Lys668Gln)
c.1957A>C (p.Lys653Gln)
n.2209A>C
c.2110A>C (p.Lys704Gln)
c.1015A>C (p.Lys339Gln)
c.604A>C (p.Lys202Gln)
n.2127A>C
5g.13901302T=CA1528490398DNAH5c.2002A= (p.Lys668=)
c.1957A= (p.Lys653=)
n.2209A=
c.2110A= (p.Lys704=)
c.1015A= (p.Lys339=)
c.604A= (p.Lys202=)
n.2127A=
5g.13901303G>ACA443536700DNAH5c.2001C>T (p.Ala667=)
c.1956C>T (p.Ala652=)
n.2208C>T
c.2109C>T (p.Ala703=)
c.1014C>T (p.Ala338=)
c.603C>T (p.Ala201=)
n.2126C>T
 ClinVar dbSNP
5g.13901303G>CCA443536701DNAH5c.2001C>G (p.Ala667=)
c.1956C>G (p.Ala652=)
n.2208C>G
c.2109C>G (p.Ala703=)
c.1014C>G (p.Ala338=)
c.603C>G (p.Ala201=)
n.2126C>G
5g.13901303G=CA1528490399DNAH5c.2001C= (p.Ala667=)
c.1956C= (p.Ala652=)
n.2208C=
c.2109C= (p.Ala703=)
c.1014C= (p.Ala338=)
c.603C= (p.Ala201=)
n.2126C=
5g.13901303G>TCA443536702DNAH5c.2001C>A (p.Ala667=)
c.1956C>A (p.Ala652=)
n.2208C>A
c.2109C>A (p.Ala703=)
c.1014C>A (p.Ala338=)
c.603C>A (p.Ala201=)
n.2126C>A
 dbSNP
5g.13901304G>ACA359205012DNAH5c.2000C>T (p.Ala667Val)
c.1955C>T (p.Ala652Val)
n.2207C>T
c.2108C>T (p.Ala703Val)
c.1013C>T (p.Ala338Val)
c.602C>T (p.Ala201Val)
n.2125C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13901304G>CCA359205010DNAH5c.2000C>G (p.Ala667Gly)
c.1955C>G (p.Ala652Gly)
n.2207C>G
c.2108C>G (p.Ala703Gly)
c.1013C>G (p.Ala338Gly)
c.602C>G (p.Ala201Gly)
n.2125C>G
5g.13901304G=CA1528490400DNAH5c.2000C= (p.Ala667=)
c.1955C= (p.Ala652=)
n.2207C=
c.2108C= (p.Ala703=)
c.1013C= (p.Ala338=)
c.602C= (p.Ala201=)
n.2125C=
5g.13901304G>TCA359205009DNAH5c.2000C>A (p.Ala667Asp)
c.1955C>A (p.Ala652Asp)
n.2207C>A
c.2108C>A (p.Ala703Asp)
c.1013C>A (p.Ala338Asp)
c.602C>A (p.Ala201Asp)
n.2125C>A
5g.13901305C>ACA359205014DNAH5c.1999G>T (p.Ala667Ser)
c.1954G>T (p.Ala652Ser)
n.2206G>T
c.2107G>T (p.Ala703Ser)
c.1012G>T (p.Ala338Ser)
c.601G>T (p.Ala201Ser)
n.2124G>T
5g.13901305C=CA1528490401DNAH5c.1999G= (p.Ala667=)
c.1954G= (p.Ala652=)
n.2206G=
c.2107G= (p.Ala703=)
c.1012G= (p.Ala338=)
c.601G= (p.Ala201=)
n.2124G=
5g.13901305C>GCA359205018DNAH5c.1999G>C (p.Ala667Pro)
c.1954G>C (p.Ala652Pro)
n.2206G>C
c.2107G>C (p.Ala703Pro)
c.1012G>C (p.Ala338Pro)
c.601G>C (p.Ala201Pro)
n.2124G>C
5g.13901305C>TCA359205016DNAH5c.1999G>A (p.Ala667Thr)
c.1954G>A (p.Ala652Thr)
n.2206G>A
c.2107G>A (p.Ala703Thr)
c.1012G>A (p.Ala338Thr)
c.601G>A (p.Ala201Thr)
n.2124G>A
 dbSNP
5g.13901306C>ACA359205022DNAH5c.1998G>T (p.Met666Ile)
c.1953G>T (p.Met651Ile)
n.2205G>T
c.2106G>T (p.Met702Ile)
c.1011G>T (p.Met337Ile)
c.600G>T (p.Met200Ile)
n.2123G>T
5g.13901306C>GCA359205025DNAH5c.1998G>C (p.Met666Ile)
c.1953G>C (p.Met651Ile)
n.2205G>C
c.2106G>C (p.Met702Ile)
c.1011G>C (p.Met337Ile)
c.600G>C (p.Met200Ile)
n.2123G>C
5g.13901306C>TCA359205035DNAH5c.1998G>A (p.Met666Ile)
c.1953G>A (p.Met651Ile)
n.2205G>A
c.2106G>A (p.Met702Ile)
c.1011G>A (p.Met337Ile)
c.600G>A (p.Met200Ile)
n.2123G>A
5g.13901307A>CCA359205040DNAH5c.1997T>G (p.Met666Arg)
c.1952T>G (p.Met651Arg)
n.2204T>G
c.2105T>G (p.Met702Arg)
c.1010T>G (p.Met337Arg)
c.599T>G (p.Met200Arg)
n.2122T>G
5g.13901307A>GCA359205043DNAH5c.1997T>C (p.Met666Thr)
c.1952T>C (p.Met651Thr)
n.2204T>C
c.2105T>C (p.Met702Thr)
c.1010T>C (p.Met337Thr)
c.599T>C (p.Met200Thr)
n.2122T>C
5g.13901307A>TCA359205046DNAH5c.1997T>A (p.Met666Lys)
c.1952T>A (p.Met651Lys)
n.2204T>A
c.2105T>A (p.Met702Lys)
c.1010T>A (p.Met337Lys)
c.599T>A (p.Met200Lys)
n.2122T>A
5g.13901308T>ACA359205049DNAH5c.1996A>T (p.Met666Leu)
c.1951A>T (p.Met651Leu)
n.2203A>T
c.2104A>T (p.Met702Leu)
c.1009A>T (p.Met337Leu)
c.598A>T (p.Met200Leu)
n.2121A>T
5g.13901308T>CCA359205050DNAH5c.1996A>G (p.Met666Val)
c.1951A>G (p.Met651Val)
n.2203A>G
c.2104A>G (p.Met702Val)
c.1009A>G (p.Met337Val)
c.598A>G (p.Met200Val)
n.2121A>G
 dbSNP gnomAD v3 gnomAD v4
5g.13901308T>GCA359205053DNAH5c.1996A>C (p.Met666Leu)
c.1951A>C (p.Met651Leu)
n.2203A>C
c.2104A>C (p.Met702Leu)
c.1009A>C (p.Met337Leu)
c.598A>C (p.Met200Leu)
n.2121A>C
5g.13901308T=CA1528490402DNAH5c.1996A= (p.Met666=)
c.1951A= (p.Met651=)
n.2203A=
c.2104A= (p.Met702=)
c.1009A= (p.Met337=)
c.598A= (p.Met200=)
n.2121A=
5g.13901309C>ACA359205056DNAH5c.1995G>T (p.Arg665Ser)
c.1950G>T (p.Arg650Ser)
n.2202G>T
c.2103G>T (p.Arg701Ser)
c.1008G>T (p.Arg336Ser)
c.597G>T (p.Arg199Ser)
n.2120G>T
5g.13901309C>GCA359205058DNAH5c.1995G>C (p.Arg665Ser)
c.1950G>C (p.Arg650Ser)
n.2202G>C
c.2103G>C (p.Arg701Ser)
c.1008G>C (p.Arg336Ser)
c.597G>C (p.Arg199Ser)
n.2120G>C
5g.13901309C>TCA443536705DNAH5c.1995G>A (p.Arg665=)
c.1950G>A (p.Arg650=)
n.2202G>A
c.2103G>A (p.Arg701=)
c.1008G>A (p.Arg336=)
c.597G>A (p.Arg199=)
n.2120G>A
 COSMIC
5g.13901310C>ACA359205064DNAH5c.1994G>T (p.Arg665Met)
c.1949G>T (p.Arg650Met)
n.2201G>T
c.2102G>T (p.Arg701Met)
c.1007G>T (p.Arg336Met)
c.596G>T (p.Arg199Met)
n.2119G>T
 dbSNP
5g.13901310C>GCA359205062DNAH5c.1994G>C (p.Arg665Thr)
c.1949G>C (p.Arg650Thr)
n.2201G>C
c.2102G>C (p.Arg701Thr)
c.1007G>C (p.Arg336Thr)
c.596G>C (p.Arg199Thr)
n.2119G>C
 gnomAD v4
5g.13901310C>TCA359205060DNAH5c.1994G>A (p.Arg665Lys)
c.1949G>A (p.Arg650Lys)
n.2201G>A
c.2102G>A (p.Arg701Lys)
c.1007G>A (p.Arg336Lys)
c.596G>A (p.Arg199Lys)
n.2119G>A
5g.13901311T>ACA359205065DNAH5c.1993A>T (p.Arg665Trp)
c.1948A>T (p.Arg650Trp)
n.2200A>T
c.2101A>T (p.Arg701Trp)
c.1006A>T (p.Arg336Trp)
c.595A>T (p.Arg199Trp)
n.2118A>T
5g.13901311T>CCA359205067DNAH5c.1993A>G (p.Arg665Gly)
c.1948A>G (p.Arg650Gly)
n.2200A>G
c.2101A>G (p.Arg701Gly)
c.1006A>G (p.Arg336Gly)
c.595A>G (p.Arg199Gly)
n.2118A>G
5g.13901311T>GCA443536709DNAH5c.1993A>C (p.Arg665=)
c.1948A>C (p.Arg650=)
n.2200A>C
c.2101A>C (p.Arg701=)
c.1006A>C (p.Arg336=)
c.595A>C (p.Arg199=)
n.2118A>C
5g.13901312G>ACA443536711DNAH5c.1992C>T (p.Asn664=)
c.1947C>T (p.Asn649=)
n.2199C>T
c.2100C>T (p.Asn700=)
c.1005C>T (p.Asn335=)
c.594C>T (p.Asn198=)
n.2117C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13901312G>CCA359205070DNAH5c.1992C>G (p.Asn664Lys)
c.1947C>G (p.Asn649Lys)
n.2199C>G
c.2100C>G (p.Asn700Lys)
c.1005C>G (p.Asn335Lys)
c.594C>G (p.Asn198Lys)
n.2117C>G
5g.13901312G=CA1528490403DNAH5c.1992C= (p.Asn664=)
c.1947C= (p.Asn649=)
n.2199C=
c.2100C= (p.Asn700=)
c.1005C= (p.Asn335=)
c.594C= (p.Asn198=)
n.2117C=
5g.13901312G>TCA359205072DNAH5c.1992C>A (p.Asn664Lys)
c.1947C>A (p.Asn649Lys)
n.2199C>A
c.2100C>A (p.Asn700Lys)
c.1005C>A (p.Asn335Lys)
c.594C>A (p.Asn198Lys)
n.2117C>A
5g.13901313T>ACA359205075DNAH5c.1991A>T (p.Asn664Ile)
c.1946A>T (p.Asn649Ile)
n.2198A>T
c.2099A>T (p.Asn700Ile)
c.1004A>T (p.Asn335Ile)
c.593A>T (p.Asn198Ile)
n.2116A>T
5g.13901313T>CCA359205076DNAH5c.1991A>G (p.Asn664Ser)
c.1946A>G (p.Asn649Ser)
n.2198A>G
c.2099A>G (p.Asn700Ser)
c.1004A>G (p.Asn335Ser)
c.593A>G (p.Asn198Ser)
n.2116A>G
 dbSNP gnomAD v2
5g.13901313T>GCA359205078DNAH5c.1991A>C (p.Asn664Thr)
c.1946A>C (p.Asn649Thr)
n.2198A>C
c.2099A>C (p.Asn700Thr)
c.1004A>C (p.Asn335Thr)
c.593A>C (p.Asn198Thr)
n.2116A>C
5g.13901313T=CA1528490404DNAH5c.1991A= (p.Asn664=)
c.1946A= (p.Asn649=)
n.2198A=
c.2099A= (p.Asn700=)
c.1004A= (p.Asn335=)
c.593A= (p.Asn198=)
n.2116A=
5g.13901314T>ACA359205080DNAH5c.1990A>T (p.Asn664Tyr)
c.1945A>T (p.Asn649Tyr)
n.2197A>T
c.2098A>T (p.Asn700Tyr)
c.1003A>T (p.Asn335Tyr)
c.592A>T (p.Asn198Tyr)
n.2115A>T
5g.13901314T>CCA359205091DNAH5c.1990A>G (p.Asn664Asp)
c.1945A>G (p.Asn649Asp)
n.2197A>G
c.2098A>G (p.Asn700Asp)
c.1003A>G (p.Asn335Asp)
c.592A>G (p.Asn198Asp)
n.2115A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13901314T>GCA359205094DNAH5c.1990A>C (p.Asn664His)
c.1945A>C (p.Asn649His)
n.2197A>C
c.2098A>C (p.Asn700His)
c.1003A>C (p.Asn335His)
c.592A>C (p.Asn198His)
n.2115A>C
5g.13901314T=CA1528490405DNAH5c.1990A= (p.Asn664=)
c.1945A= (p.Asn649=)
n.2197A=
c.2098A= (p.Asn700=)
c.1003A= (p.Asn335=)
c.592A= (p.Asn198=)
n.2115A=
5g.13901315G>ACA443536714DNAH5c.1989C>T (p.Tyr663=)
c.1944C>T (p.Tyr648=)
n.2196C>T
c.2097C>T (p.Tyr699=)
c.1002C>T (p.Tyr334=)
c.591C>T (p.Tyr197=)
n.2114C>T
5g.13901315G>CCA359205097DNAH5c.1989C>G (p.Tyr663Ter)
c.1944C>G (p.Tyr648Ter)
n.2196C>G
c.2097C>G (p.Tyr699Ter)
c.1002C>G (p.Tyr334Ter)
c.591C>G (p.Tyr197Ter)
n.2114C>G
 gnomAD v4
5g.13901315G>TCA359205099DNAH5c.1989C>A (p.Tyr663Ter)
c.1944C>A (p.Tyr648Ter)
n.2196C>A
c.2097C>A (p.Tyr699Ter)
c.1002C>A (p.Tyr334Ter)
c.591C>A (p.Tyr197Ter)
n.2114C>A
 ClinVar
5g.13901316T>ACA359205108DNAH5c.1988A>T (p.Tyr663Phe)
c.1943A>T (p.Tyr648Phe)
n.2195A>T
c.2096A>T (p.Tyr699Phe)
c.1001A>T (p.Tyr334Phe)
c.590A>T (p.Tyr197Phe)
n.2113A>T
 dbSNP gnomAD v2 gnomAD v4
5g.13901316T>CCA3204701DNAH5c.1988A>G (p.Tyr663Cys)
c.1943A>G (p.Tyr648Cys)
n.2195A>G
c.2096A>G (p.Tyr699Cys)
c.1001A>G (p.Tyr334Cys)
c.590A>G (p.Tyr197Cys)
n.2113A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901316T>GCA359205104DNAH5c.1988A>C (p.Tyr663Ser)
c.1943A>C (p.Tyr648Ser)
n.2195A>C
c.2096A>C (p.Tyr699Ser)
c.1001A>C (p.Tyr334Ser)
c.590A>C (p.Tyr197Ser)
n.2113A>C
5g.13901316T=CA1528490406DNAH5c.1988A= (p.Tyr663=)
c.1943A= (p.Tyr648=)
n.2195A=
c.2096A= (p.Tyr699=)
c.1001A= (p.Tyr334=)
c.590A= (p.Tyr197=)
n.2113A=
5g.13901316dupCA2697547045DNAH5c.1988dup (p.Tyr663Ter)
c.1943dup (p.Tyr648Ter)
n.2195dup
c.2096dup (p.Tyr699Ter)
c.1001dup (p.Tyr334Ter)
c.590dup (p.Tyr197Ter)
n.2113dup
 ClinVar
5g.13901317A>CCA359205113DNAH5c.1987T>G (p.Tyr663Asp)
c.1942T>G (p.Tyr648Asp)
n.2194T>G
c.2095T>G (p.Tyr699Asp)
c.1000T>G (p.Tyr334Asp)
c.589T>G (p.Tyr197Asp)
n.2112T>G
5g.13901317A>GCA359205115DNAH5c.1987T>C (p.Tyr663His)
c.1942T>C (p.Tyr648His)
n.2194T>C
c.2095T>C (p.Tyr699His)
c.1000T>C (p.Tyr334His)
c.589T>C (p.Tyr197His)
n.2112T>C
5g.13901317A>TCA359205118DNAH5c.1987T>A (p.Tyr663Asn)
c.1942T>A (p.Tyr648Asn)
n.2194T>A
c.2095T>A (p.Tyr699Asn)
c.1000T>A (p.Tyr334Asn)
c.589T>A (p.Tyr197Asn)
n.2112T>A
5g.13901318A>CCA359205121DNAH5c.1986T>G (p.Ser662Arg)
c.1941T>G (p.Ser647Arg)
n.2193T>G
c.2094T>G (p.Ser698Arg)
c.999T>G (p.Ser333Arg)
c.588T>G (p.Ser196Arg)
n.2111T>G
5g.13901318A>GCA443536716DNAH5c.1986T>C (p.Ser662=)
c.1941T>C (p.Ser647=)
n.2193T>C
c.2094T>C (p.Ser698=)
c.999T>C (p.Ser333=)
c.588T>C (p.Ser196=)
n.2111T>C
5g.13901318A>TCA359205124DNAH5c.1986T>A (p.Ser662Arg)
c.1941T>A (p.Ser647Arg)
n.2193T>A
c.2094T>A (p.Ser698Arg)
c.999T>A (p.Ser333Arg)
c.588T>A (p.Ser196Arg)
n.2111T>A
5g.13901319C>ACA359205132DNAH5c.1985G>T (p.Ser662Ile)
c.1940G>T (p.Ser647Ile)
n.2192G>T
c.2093G>T (p.Ser698Ile)
c.998G>T (p.Ser333Ile)
c.587G>T (p.Ser196Ile)
n.2110G>T
5g.13901319C>GCA359205129DNAH5c.1985G>C (p.Ser662Thr)
c.1940G>C (p.Ser647Thr)
n.2192G>C
c.2093G>C (p.Ser698Thr)
c.998G>C (p.Ser333Thr)
c.587G>C (p.Ser196Thr)
n.2110G>C
5g.13901319C>TCA359205126DNAH5c.1985G>A (p.Ser662Asn)
c.1940G>A (p.Ser647Asn)
n.2192G>A
c.2093G>A (p.Ser698Asn)
c.998G>A (p.Ser333Asn)
c.587G>A (p.Ser196Asn)
n.2110G>A
5g.13901320T>ACA359205135DNAH5c.1984A>T (p.Ser662Cys)
c.1939A>T (p.Ser647Cys)
n.2191A>T
c.2092A>T (p.Ser698Cys)
c.997A>T (p.Ser333Cys)
c.586A>T (p.Ser196Cys)
n.2109A>T
5g.13901320T>CCA113944114DNAH5c.1984A>G (p.Ser662Gly)
c.1939A>G (p.Ser647Gly)
n.2191A>G
c.2092A>G (p.Ser698Gly)
c.997A>G (p.Ser333Gly)
c.586A>G (p.Ser196Gly)
n.2109A>G
 dbSNP gnomAD v4
5g.13901320T>GCA359205145DNAH5c.1984A>C (p.Ser662Arg)
c.1939A>C (p.Ser647Arg)
n.2191A>C
c.2092A>C (p.Ser698Arg)
c.997A>C (p.Ser333Arg)
c.586A>C (p.Ser196Arg)
n.2109A>C
5g.13901320T=CA1528490407DNAH5c.1984A= (p.Ser662=)
c.1939A= (p.Ser647=)
n.2191A=
c.2092A= (p.Ser698=)
c.997A= (p.Ser333=)
c.586A= (p.Ser196=)
n.2109A=
5g.13901321G>ACA443536717DNAH5c.1983C>T (p.Arg661=)
c.1938C>T (p.Arg646=)
n.2190C>T
c.2091C>T (p.Arg697=)
c.996C>T (p.Arg332=)
c.585C>T (p.Arg195=)
n.2108C>T
5g.13901321G>CCA443536719DNAH5c.1983C>G (p.Arg661=)
c.1938C>G (p.Arg646=)
n.2190C>G
c.2091C>G (p.Arg697=)
c.996C>G (p.Arg332=)
c.585C>G (p.Arg195=)
n.2108C>G
5g.13901321G>TCA443536718DNAH5c.1983C>A (p.Arg661=)
c.1938C>A (p.Arg646=)
n.2190C>A
c.2091C>A (p.Arg697=)
c.996C>A (p.Arg332=)
c.585C>A (p.Arg195=)
n.2108C>A
5g.13901322C>ACA359205151DNAH5c.1982G>T (p.Arg661Leu)
c.1937G>T (p.Arg646Leu)
n.2189G>T
c.2090G>T (p.Arg697Leu)
c.995G>T (p.Arg332Leu)
c.584G>T (p.Arg195Leu)
n.2107G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13901322C=CA1528490408DNAH5c.1982G= (p.Arg661=)
c.1937G= (p.Arg646=)
n.2189G=
c.2090G= (p.Arg697=)
c.995G= (p.Arg332=)
c.584G= (p.Arg195=)
n.2107G=
5g.13901322C>GCA359205155DNAH5c.1982G>C (p.Arg661Pro)
c.1937G>C (p.Arg646Pro)
n.2189G>C
c.2090G>C (p.Arg697Pro)
c.995G>C (p.Arg332Pro)
c.584G>C (p.Arg195Pro)
n.2107G>C
5g.13901322C>TCA3204702DNAH5c.1982G>A (p.Arg661His)
c.1937G>A (p.Arg646His)
n.2189G>A
c.2090G>A (p.Arg697His)
c.995G>A (p.Arg332His)
c.584G>A (p.Arg195His)
n.2107G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901323G>ACA3204703DNAH5c.1981C>T (p.Arg661Cys)
c.1936C>T (p.Arg646Cys)
n.2188C>T
c.2089C>T (p.Arg697Cys)
c.994C>T (p.Arg332Cys)
c.583C>T (p.Arg195Cys)
n.2106C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13901323G>CCA359205163DNAH5c.1981C>G (p.Arg661Gly)
c.1936C>G (p.Arg646Gly)
n.2188C>G
c.2089C>G (p.Arg697Gly)
c.994C>G (p.Arg332Gly)
c.583C>G (p.Arg195Gly)
n.2106C>G
5g.13901323G=CA1528490409DNAH5c.1981C= (p.Arg661=)
c.1936C= (p.Arg646=)
n.2188C=
c.2089C= (p.Arg697=)
c.994C= (p.Arg332=)
c.583C= (p.Arg195=)
n.2106C=
5g.13901323G>TCA359205161DNAH5c.1981C>A (p.Arg661Ser)
c.1936C>A (p.Arg646Ser)
n.2188C>A
c.2089C>A (p.Arg697Ser)
c.994C>A (p.Arg332Ser)
c.583C>A (p.Arg195Ser)
n.2106C>A
 dbSNP gnomAD v4
5g.13901324A>CCA359205165DNAH5c.1980T>G (p.Ile660Met)
c.1935T>G (p.Ile645Met)
n.2187T>G
c.2088T>G (p.Ile696Met)
c.993T>G (p.Ile331Met)
c.582T>G (p.Ile194Met)
n.2105T>G
5g.13901324A>GCA443536720DNAH5c.1980T>C (p.Ile660=)
c.1935T>C (p.Ile645=)
n.2187T>C
c.2088T>C (p.Ile696=)
c.993T>C (p.Ile331=)
c.582T>C (p.Ile194=)
n.2105T>C
5g.13901324A>TCA443536721DNAH5c.1980T>A (p.Ile660=)
c.1935T>A (p.Ile645=)
n.2187T>A
c.2088T>A (p.Ile696=)
c.993T>A (p.Ile331=)
c.582T>A (p.Ile194=)
n.2105T>A
5g.13901325A>CCA359205170DNAH5c.1979T>G (p.Ile660Ser)
c.1934T>G (p.Ile645Ser)
n.2186T>G
c.2087T>G (p.Ile696Ser)
c.992T>G (p.Ile331Ser)
c.581T>G (p.Ile194Ser)
n.2104T>G
5g.13901325A>GCA359205172DNAH5c.1979T>C (p.Ile660Thr)
c.1934T>C (p.Ile645Thr)
n.2186T>C
c.2087T>C (p.Ile696Thr)
c.992T>C (p.Ile331Thr)
c.581T>C (p.Ile194Thr)
n.2104T>C
5g.13901325A>TCA359205175DNAH5c.1979T>A (p.Ile660Asn)
c.1934T>A (p.Ile645Asn)
n.2186T>A
c.2087T>A (p.Ile696Asn)
c.992T>A (p.Ile331Asn)
c.581T>A (p.Ile194Asn)
n.2104T>A
5g.13901326T>ACA359205178DNAH5c.1978A>T (p.Ile660Phe)
c.1933A>T (p.Ile645Phe)
n.2185A>T
c.2086A>T (p.Ile696Phe)
c.991A>T (p.Ile331Phe)
c.580A>T (p.Ile194Phe)
n.2103A>T
5g.13901326T>CCA359205179DNAH5c.1978A>G (p.Ile660Val)
c.1933A>G (p.Ile645Val)
n.2185A>G
c.2086A>G (p.Ile696Val)
c.991A>G (p.Ile331Val)
c.580A>G (p.Ile194Val)
n.2103A>G
 gnomAD v4
5g.13901326T>GCA3204704DNAH5c.1978A>C (p.Ile660Leu)
c.1933A>C (p.Ile645Leu)
n.2185A>C
c.2086A>C (p.Ile696Leu)
c.991A>C (p.Ile331Leu)
c.580A>C (p.Ile194Leu)
n.2103A>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13901326T=CA1528490410DNAH5c.1978A= (p.Ile660=)
c.1933A= (p.Ile645=)
n.2185A=
c.2086A= (p.Ile696=)
c.991A= (p.Ile331=)
c.580A= (p.Ile194=)
n.2103A=
5g.13901327T>ACA443536722DNAH5c.1977A>T (p.Ile659=)
c.1932A>T (p.Ile644=)
n.2184A>T
c.2085A>T (p.Ile695=)
c.990A>T (p.Ile330=)
c.579A>T (p.Ile193=)
n.2102A>T
5g.13901327T>CCA359205186DNAH5c.1977A>G (p.Ile659Met)
c.1932A>G (p.Ile644Met)
n.2184A>G
c.2085A>G (p.Ile695Met)
c.990A>G (p.Ile330Met)
c.579A>G (p.Ile193Met)
n.2102A>G
 COSMIC
5g.13901327T>GCA443536723DNAH5c.1977A>C (p.Ile659=)
c.1932A>C (p.Ile644=)
n.2184A>C
c.2085A>C (p.Ile695=)
c.990A>C (p.Ile330=)
c.579A>C (p.Ile193=)
n.2102A>C
5g.13901328A>CCA359205188DNAH5c.1976T>G (p.Ile659Arg)
c.1931T>G (p.Ile644Arg)
n.2183T>G
c.2084T>G (p.Ile695Arg)
c.989T>G (p.Ile330Arg)
c.578T>G (p.Ile193Arg)
n.2101T>G
5g.13901328A>GCA359205190DNAH5c.1976T>C (p.Ile659Thr)
c.1931T>C (p.Ile644Thr)
n.2183T>C
c.2084T>C (p.Ile695Thr)
c.989T>C (p.Ile330Thr)
c.578T>C (p.Ile193Thr)
n.2101T>C
 gnomAD v4
5g.13901328A>TCA359205192DNAH5c.1976T>A (p.Ile659Lys)
c.1931T>A (p.Ile644Lys)
n.2183T>A
c.2084T>A (p.Ile695Lys)
c.989T>A (p.Ile330Lys)
c.578T>A (p.Ile193Lys)
n.2101T>A
5g.13901329T>ACA359205196DNAH5c.1975A>T (p.Ile659Leu)
c.1930A>T (p.Ile644Leu)
n.2182A>T
c.2083A>T (p.Ile695Leu)
c.988A>T (p.Ile330Leu)
c.577A>T (p.Ile193Leu)
n.2100A>T
5g.13901329T>CCA3204706DNAH5c.1975A>G (p.Ile659Val)
c.1930A>G (p.Ile644Val)
n.2182A>G
c.2083A>G (p.Ile695Val)
c.988A>G (p.Ile330Val)
c.577A>G (p.Ile193Val)
n.2100A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901329T>GCA3204705DNAH5c.1975A>C (p.Ile659Leu)
c.1930A>C (p.Ile644Leu)
n.2182A>C
c.2083A>C (p.Ile695Leu)
c.988A>C (p.Ile330Leu)
c.577A>C (p.Ile193Leu)
n.2100A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901329T=CA1528490411DNAH5c.1975A= (p.Ile659=)
c.1930A= (p.Ile644=)
n.2182A=
c.2083A= (p.Ile695=)
c.988A= (p.Ile330=)
c.577A= (p.Ile193=)
n.2100A=
5g.13901330A=CA1528490412DNAH5c.1974T= (p.Pro658=)
c.1929T= (p.Pro643=)
n.2181T=
c.2082T= (p.Pro694=)
c.987T= (p.Pro329=)
c.576T= (p.Pro192=)
n.2099T=
5g.13901330A>CCA443536726DNAH5c.1974T>G (p.Pro658=)
c.1929T>G (p.Pro643=)
n.2181T>G
c.2082T>G (p.Pro694=)
c.987T>G (p.Pro329=)
c.576T>G (p.Pro192=)
n.2099T>G
5g.13901330A>GCA443536724DNAH5c.1974T>C (p.Pro658=)
c.1929T>C (p.Pro643=)
n.2181T>C
c.2082T>C (p.Pro694=)
c.987T>C (p.Pro329=)
c.576T>C (p.Pro192=)
n.2099T>C
 ClinVar dbSNP gnomAD v4
5g.13901330A>TCA443536725DNAH5c.1974T>A (p.Pro658=)
c.1929T>A (p.Pro643=)
n.2181T>A
c.2082T>A (p.Pro694=)
c.987T>A (p.Pro329=)
c.576T>A (p.Pro192=)
n.2099T>A
5g.13901331G>ACA359205201DNAH5c.1973C>T (p.Pro658Leu)
c.1928C>T (p.Pro643Leu)
n.2180C>T
c.2081C>T (p.Pro694Leu)
c.986C>T (p.Pro329Leu)
c.575C>T (p.Pro192Leu)
n.2098C>T
5g.13901331G>CCA359205204DNAH5c.1973C>G (p.Pro658Arg)
c.1928C>G (p.Pro643Arg)
n.2180C>G
c.2081C>G (p.Pro694Arg)
c.986C>G (p.Pro329Arg)
c.575C>G (p.Pro192Arg)
n.2098C>G
5g.13901331G>TCA359205202DNAH5c.1973C>A (p.Pro658His)
c.1928C>A (p.Pro643His)
n.2180C>A
c.2081C>A (p.Pro694His)
c.986C>A (p.Pro329His)
c.575C>A (p.Pro192His)
n.2098C>A
5g.13901332G>ACA359205206DNAH5c.1972C>T (p.Pro658Ser)
c.1927C>T (p.Pro643Ser)
n.2179C>T
c.2080C>T (p.Pro694Ser)
c.985C>T (p.Pro329Ser)
c.574C>T (p.Pro192Ser)
n.2097C>T
 dbSNP
5g.13901332G>CCA359205211DNAH5c.1972C>G (p.Pro658Ala)
c.1927C>G (p.Pro643Ala)
n.2179C>G
c.2080C>G (p.Pro694Ala)
c.985C>G (p.Pro329Ala)
c.574C>G (p.Pro192Ala)
n.2097C>G
 gnomAD v4
5g.13901332G=CA1528490413DNAH5c.1972C= (p.Pro658=)
c.1927C= (p.Pro643=)
n.2179C=
c.2080C= (p.Pro694=)
c.985C= (p.Pro329=)
c.574C= (p.Pro192=)
n.2097C=
5g.13901332G>TCA359205208DNAH5c.1972C>A (p.Pro658Thr)
c.1927C>A (p.Pro643Thr)
n.2179C>A
c.2080C>A (p.Pro694Thr)
c.985C>A (p.Pro329Thr)
c.574C>A (p.Pro192Thr)
n.2097C>A
5g.13901333T>ACA359205214DNAH5c.1971A>T (p.Lys657Asn)
c.1926A>T (p.Lys642Asn)
n.2178A>T
c.2079A>T (p.Lys693Asn)
c.984A>T (p.Lys328Asn)
c.573A>T (p.Lys191Asn)
n.2096A>T
 gnomAD v4
5g.13901333T>CCA443536727DNAH5c.1971A>G (p.Lys657=)
c.1926A>G (p.Lys642=)
n.2178A>G
c.2079A>G (p.Lys693=)
c.984A>G (p.Lys328=)
c.573A>G (p.Lys191=)
n.2096A>G
 COSMIC
5g.13901333T>GCA359205215DNAH5c.1971A>C (p.Lys657Asn)
c.1926A>C (p.Lys642Asn)
n.2178A>C
c.2079A>C (p.Lys693Asn)
c.984A>C (p.Lys328Asn)
c.573A>C (p.Lys191Asn)
n.2096A>C
5g.13901334T>ACA359205218DNAH5c.1970A>T (p.Lys657Ile)
c.1925A>T (p.Lys642Ile)
n.2177A>T
c.2078A>T (p.Lys693Ile)
c.983A>T (p.Lys328Ile)
c.572A>T (p.Lys191Ile)
n.2095A>T
5g.13901334T>CCA359205226DNAH5c.1970A>G (p.Lys657Arg)
c.1925A>G (p.Lys642Arg)
n.2177A>G
c.2078A>G (p.Lys693Arg)
c.983A>G (p.Lys328Arg)
c.572A>G (p.Lys191Arg)
n.2095A>G
 gnomAD v4
5g.13901334T>GCA359205223DNAH5c.1970A>C (p.Lys657Thr)
c.1925A>C (p.Lys642Thr)
n.2177A>C
c.2078A>C (p.Lys693Thr)
c.983A>C (p.Lys328Thr)
c.572A>C (p.Lys191Thr)
n.2095A>C
5g.13901335T>ACA359205229DNAH5c.1969A>T (p.Lys657Ter)
c.1924A>T (p.Lys642Ter)
n.2176A>T
c.2077A>T (p.Lys693Ter)
c.982A>T (p.Lys328Ter)
c.571A>T (p.Lys191Ter)
n.2094A>T
5g.13901335T>CCA113944161DNAH5c.1969A>G (p.Lys657Glu)
c.1924A>G (p.Lys642Glu)
n.2176A>G
c.2077A>G (p.Lys693Glu)
c.982A>G (p.Lys328Glu)
c.571A>G (p.Lys191Glu)
n.2094A>G
 dbSNP
5g.13901335T>GCA359205234DNAH5c.1969A>C (p.Lys657Gln)
c.1924A>C (p.Lys642Gln)
n.2176A>C
c.2077A>C (p.Lys693Gln)
c.982A>C (p.Lys328Gln)
c.571A>C (p.Lys191Gln)
n.2094A>C
5g.13901335T=CA1528490414DNAH5c.1969A= (p.Lys657=)
c.1924A= (p.Lys642=)
n.2176A=
c.2077A= (p.Lys693=)
c.982A= (p.Lys328=)
c.571A= (p.Lys191=)
n.2094A=
5g.13901336G>ACA443536728DNAH5c.1968C>T (p.Ala656=)
c.1923C>T (p.Ala641=)
n.2175C>T
c.2076C>T (p.Ala692=)
c.981C>T (p.Ala327=)
c.570C>T (p.Ala190=)
n.2093C>T
5g.13901336G>CCA443536729DNAH5c.1968C>G (p.Ala656=)
c.1923C>G (p.Ala641=)
n.2175C>G
c.2076C>G (p.Ala692=)
c.981C>G (p.Ala327=)
c.570C>G (p.Ala190=)
n.2093C>G
5g.13901336G>TCA443536730DNAH5c.1968C>A (p.Ala656=)
c.1923C>A (p.Ala641=)
n.2175C>A
c.2076C>A (p.Ala692=)
c.981C>A (p.Ala327=)
c.570C>A (p.Ala190=)
n.2093C>A
5g.13901337G>ACA3204708DNAH5c.1967C>T (p.Ala656Val)
c.1922C>T (p.Ala641Val)
n.2174C>T
c.2075C>T (p.Ala692Val)
c.980C>T (p.Ala327Val)
c.569C>T (p.Ala190Val)
n.2092C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901337G>CCA359205240DNAH5c.1967C>G (p.Ala656Gly)
c.1922C>G (p.Ala641Gly)
n.2174C>G
c.2075C>G (p.Ala692Gly)
c.980C>G (p.Ala327Gly)
c.569C>G (p.Ala190Gly)
n.2092C>G
 gnomAD v4
5g.13901337G=CA1528490415DNAH5c.1967C= (p.Ala656=)
c.1922C= (p.Ala641=)
n.2174C=
c.2075C= (p.Ala692=)
c.980C= (p.Ala327=)
c.569C= (p.Ala190=)
n.2092C=
5g.13901337G>TCA3204707DNAH5c.1967C>A (p.Ala656Asp)
c.1922C>A (p.Ala641Asp)
n.2174C>A
c.2075C>A (p.Ala692Asp)
c.980C>A (p.Ala327Asp)
c.569C>A (p.Ala190Asp)
n.2092C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901338C>ACA3204709DNAH5c.1966G>T (p.Ala656Ser)
c.1921G>T (p.Ala641Ser)
n.2173G>T
c.2074G>T (p.Ala692Ser)
c.979G>T (p.Ala327Ser)
c.568G>T (p.Ala190Ser)
n.2091G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901338C=CA1528490416DNAH5c.1966G= (p.Ala656=)
c.1921G= (p.Ala641=)
n.2173G=
c.2074G= (p.Ala692=)
c.979G= (p.Ala327=)
c.568G= (p.Ala190=)
n.2091G=
5g.13901338C>GCA359205246DNAH5c.1966G>C (p.Ala656Pro)
c.1921G>C (p.Ala641Pro)
n.2173G>C
c.2074G>C (p.Ala692Pro)
c.979G>C (p.Ala327Pro)
c.568G>C (p.Ala190Pro)
n.2091G>C
 gnomAD v4
5g.13901338C>TCA113944177DNAH5c.1966G>A (p.Ala656Thr)
c.1921G>A (p.Ala641Thr)
n.2173G>A
c.2074G>A (p.Ala692Thr)
c.979G>A (p.Ala327Thr)
c.568G>A (p.Ala190Thr)
n.2091G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13901339T>ACA359205249DNAH5c.1965A>T (p.Glu655Asp)
c.1920A>T (p.Glu640Asp)
n.2172A>T
c.2073A>T (p.Glu691Asp)
c.978A>T (p.Glu326Asp)
c.567A>T (p.Glu189Asp)
n.2090A>T
5g.13901339T>CCA443536731DNAH5c.1965A>G (p.Glu655=)
c.1920A>G (p.Glu640=)
n.2172A>G
c.2073A>G (p.Glu691=)
c.978A>G (p.Glu326=)
c.567A>G (p.Glu189=)
n.2090A>G
5g.13901339T>GCA359205252DNAH5c.1965A>C (p.Glu655Asp)
c.1920A>C (p.Glu640Asp)
n.2172A>C
c.2073A>C (p.Glu691Asp)
c.978A>C (p.Glu326Asp)
c.567A>C (p.Glu189Asp)
n.2090A>C
5g.13901340T>ACA359205258DNAH5c.1964A>T (p.Glu655Val)
c.1919A>T (p.Glu640Val)
n.2171A>T
c.2072A>T (p.Glu691Val)
c.977A>T (p.Glu326Val)
c.566A>T (p.Glu189Val)
n.2089A>T
5g.13901340T>CCA359205253DNAH5c.1964A>G (p.Glu655Gly)
c.1919A>G (p.Glu640Gly)
n.2171A>G
c.2072A>G (p.Glu691Gly)
c.977A>G (p.Glu326Gly)
c.566A>G (p.Glu189Gly)
n.2089A>G
5g.13901340T>GCA359205255DNAH5c.1964A>C (p.Glu655Ala)
c.1919A>C (p.Glu640Ala)
n.2171A>C
c.2072A>C (p.Glu691Ala)
c.977A>C (p.Glu326Ala)
c.566A>C (p.Glu189Ala)
n.2089A>C
5g.13901341C>ACA359205259DNAH5c.1963G>T (p.Glu655Ter)
c.1918G>T (p.Glu640Ter)
n.2170G>T
c.2071G>T (p.Glu691Ter)
c.976G>T (p.Glu326Ter)
c.565G>T (p.Glu189Ter)
n.2088G>T
 dbSNP gnomAD v4
5g.13901341C=CA1528490417DNAH5c.1963G= (p.Glu655=)
c.1918G= (p.Glu640=)
n.2170G=
c.2071G= (p.Glu691=)
c.976G= (p.Glu326=)
c.565G= (p.Glu189=)
n.2088G=
5g.13901341C>GCA359205262DNAH5c.1963G>C (p.Glu655Gln)
c.1918G>C (p.Glu640Gln)
n.2170G>C
c.2071G>C (p.Glu691Gln)
c.976G>C (p.Glu326Gln)
c.565G>C (p.Glu189Gln)
n.2088G>C
5g.13901341C>TCA359205266DNAH5c.1963G>A (p.Glu655Lys)
c.1918G>A (p.Glu640Lys)
n.2170G>A
c.2071G>A (p.Glu691Lys)
c.976G>A (p.Glu326Lys)
c.565G>A (p.Glu189Lys)
n.2088G>A
5g.13901342T>ACA443536732DNAH5c.1962A>T (p.Ala654=)
c.1917A>T (p.Ala639=)
n.2169A>T
c.2070A>T (p.Ala690=)
c.975A>T (p.Ala325=)
c.564A>T (p.Ala188=)
n.2087A>T
5g.13901342T>CCA443536733DNAH5c.1962A>G (p.Ala654=)
c.1917A>G (p.Ala639=)
n.2169A>G
c.2070A>G (p.Ala690=)
c.975A>G (p.Ala325=)
c.564A>G (p.Ala188=)
n.2087A>G
 dbSNP
5g.13901342T>GCA443536734DNAH5c.1962A>C (p.Ala654=)
c.1917A>C (p.Ala639=)
n.2169A>C
c.2070A>C (p.Ala690=)
c.975A>C (p.Ala325=)
c.564A>C (p.Ala188=)
n.2087A>C
5g.13901342T=CA1528490418DNAH5c.1962A= (p.Ala654=)
c.1917A= (p.Ala639=)
n.2169A=
c.2070A= (p.Ala690=)
c.975A= (p.Ala325=)
c.564A= (p.Ala188=)
n.2087A=
5g.13901343G>ACA359205268DNAH5c.1961C>T (p.Ala654Val)
c.1916C>T (p.Ala639Val)
n.2168C>T
c.2069C>T (p.Ala690Val)
c.974C>T (p.Ala325Val)
c.563C>T (p.Ala188Val)
n.2086C>T
5g.13901343G>CCA359205271DNAH5c.1961C>G (p.Ala654Gly)
c.1916C>G (p.Ala639Gly)
n.2168C>G
c.2069C>G (p.Ala690Gly)
c.974C>G (p.Ala325Gly)
c.563C>G (p.Ala188Gly)
n.2086C>G
5g.13901343G>TCA359205273DNAH5c.1961C>A (p.Ala654Glu)
c.1916C>A (p.Ala639Glu)
n.2168C>A
c.2069C>A (p.Ala690Glu)
c.974C>A (p.Ala325Glu)
c.563C>A (p.Ala188Glu)
n.2086C>A
5g.13901344C>ACA359205275DNAH5c.1960G>T (p.Ala654Ser)
c.1915G>T (p.Ala639Ser)
n.2167G>T
c.2068G>T (p.Ala690Ser)
c.973G>T (p.Ala325Ser)
c.562G>T (p.Ala188Ser)
n.2085G>T
 gnomAD v4
5g.13901344C>GCA359205278DNAH5c.1960G>C (p.Ala654Pro)
c.1915G>C (p.Ala639Pro)
n.2167G>C
c.2068G>C (p.Ala690Pro)
c.973G>C (p.Ala325Pro)
c.562G>C (p.Ala188Pro)
n.2085G>C
 gnomAD v4
5g.13901344C>TCA359205281DNAH5c.1960G>A (p.Ala654Thr)
c.1915G>A (p.Ala639Thr)
n.2167G>A
c.2068G>A (p.Ala690Thr)
c.973G>A (p.Ala325Thr)
c.562G>A (p.Ala188Thr)
n.2085G>A
 gnomAD v4
5g.13901345C>ACA443536735DNAH5c.1959G>T (p.Thr653=)
c.1914G>T (p.Thr638=)
n.2166G>T
c.2067G>T (p.Thr689=)
c.972G>T (p.Thr324=)
c.561G>T (p.Thr187=)
n.2084G>T
5g.13901345C=CA1528490419DNAH5c.1959G= (p.Thr653=)
c.1914G= (p.Thr638=)
n.2166G=
c.2067G= (p.Thr689=)
c.972G= (p.Thr324=)
c.561G= (p.Thr187=)
n.2084G=
5g.13901345C>GCA443536736DNAH5c.1959G>C (p.Thr653=)
c.1914G>C (p.Thr638=)
n.2166G>C
c.2067G>C (p.Thr689=)
c.972G>C (p.Thr324=)
c.561G>C (p.Thr187=)
n.2084G>C
5g.13901345C>TCA3204710DNAH5c.1959G>A (p.Thr653=)
c.1914G>A (p.Thr638=)
n.2166G>A
c.2067G>A (p.Thr689=)
c.972G>A (p.Thr324=)
c.561G>A (p.Thr187=)
n.2084G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901346G>ACA3204711DNAH5c.1958C>T (p.Thr653Met)
c.1913C>T (p.Thr638Met)
n.2165C>T
c.2066C>T (p.Thr689Met)
c.971C>T (p.Thr324Met)
c.560C>T (p.Thr187Met)
n.2083C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901346G>CCA359205288DNAH5c.1958C>G (p.Thr653Arg)
c.1913C>G (p.Thr638Arg)
n.2165C>G
c.2066C>G (p.Thr689Arg)
c.971C>G (p.Thr324Arg)
c.560C>G (p.Thr187Arg)
n.2083C>G
5g.13901346G=CA1528490420DNAH5c.1958C= (p.Thr653=)
c.1913C= (p.Thr638=)
n.2165C=
c.2066C= (p.Thr689=)
c.971C= (p.Thr324=)
c.560C= (p.Thr187=)
n.2083C=
5g.13901346G>TCA3204712DNAH5c.1958C>A (p.Thr653Lys)
c.1913C>A (p.Thr638Lys)
n.2165C>A
c.2066C>A (p.Thr689Lys)
c.971C>A (p.Thr324Lys)
c.560C>A (p.Thr187Lys)
n.2083C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13901347T>ACA359205290DNAH5c.1957A>T (p.Thr653Ser)
c.1912A>T (p.Thr638Ser)
n.2164A>T
c.2065A>T (p.Thr689Ser)
c.970A>T (p.Thr324Ser)
c.559A>T (p.Thr187Ser)
n.2082A>T
5g.13901347T>CCA359205291DNAH5c.1957A>G (p.Thr653Ala)
c.1912A>G (p.Thr638Ala)
n.2164A>G
c.2065A>G (p.Thr689Ala)
c.970A>G (p.Thr324Ala)
c.559A>G (p.Thr187Ala)
n.2082A>G
5g.13901347T>GCA359205293DNAH5c.1957A>C (p.Thr653Pro)
c.1912A>C (p.Thr638Pro)
n.2164A>C
c.2065A>C (p.Thr689Pro)
c.970A>C (p.Thr324Pro)
c.559A>C (p.Thr187Pro)
n.2082A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13901347T=CA1528490421DNAH5c.1957A= (p.Thr653=)
c.1912A= (p.Thr638=)
n.2164A=
c.2065A= (p.Thr689=)
c.970A= (p.Thr324=)
c.559A= (p.Thr187=)
n.2082A=
5g.13901348G>ACA443536737DNAH5c.1956C>T (p.Ser652=)
c.1911C>T (p.Ser637=)
n.2163C>T
c.2064C>T (p.Ser688=)
c.969C>T (p.Ser323=)
c.558C>T (p.Ser186=)
n.2081C>T
 dbSNP
5g.13901348G>CCA359205296DNAH5c.1956C>G (p.Ser652Arg)
c.1911C>G (p.Ser637Arg)
n.2163C>G
c.2064C>G (p.Ser688Arg)
c.969C>G (p.Ser323Arg)
c.558C>G (p.Ser186Arg)
n.2081C>G
5g.13901348G=CA1528490422DNAH5c.1956C= (p.Ser652=)
c.1911C= (p.Ser637=)
n.2163C=
c.2064C= (p.Ser688=)
c.969C= (p.Ser323=)
c.558C= (p.Ser186=)
n.2081C=
5g.13901348G>TCA359205300DNAH5c.1956C>A (p.Ser652Arg)
c.1911C>A (p.Ser637Arg)
n.2163C>A
c.2064C>A (p.Ser688Arg)
c.969C>A (p.Ser323Arg)
c.558C>A (p.Ser186Arg)
n.2081C>A
5g.13901349C>ACA359205302DNAH5c.1955G>T (p.Ser652Ile)
c.1910G>T (p.Ser637Ile)
n.2162G>T
c.2063G>T (p.Ser688Ile)
c.968G>T (p.Ser323Ile)
c.557G>T (p.Ser186Ile)
n.2080G>T
5g.13901349C=CA1528490423DNAH5c.1955G= (p.Ser652=)
c.1910G= (p.Ser637=)
n.2162G=
c.2063G= (p.Ser688=)
c.968G= (p.Ser323=)
c.557G= (p.Ser186=)
n.2080G=
5g.13901349C>GCA359205303DNAH5c.1955G>C (p.Ser652Thr)
c.1910G>C (p.Ser637Thr)
n.2162G>C
c.2063G>C (p.Ser688Thr)
c.968G>C (p.Ser323Thr)
c.557G>C (p.Ser186Thr)
n.2080G>C
5g.13901349C>TCA240289DNAH5c.1955G>A (p.Ser652Asn)
c.1910G>A (p.Ser637Asn)
n.2162G>A
c.2063G>A (p.Ser688Asn)
c.968G>A (p.Ser323Asn)
c.557G>A (p.Ser186Asn)
n.2080G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13901350T>ACA359205305DNAH5c.1954A>T (p.Ser652Cys)
c.1909A>T (p.Ser637Cys)
n.2161A>T
c.2062A>T (p.Ser688Cys)
c.967A>T (p.Ser323Cys)
c.556A>T (p.Ser186Cys)
n.2079A>T
5g.13901350T>CCA359205307DNAH5c.1954A>G (p.Ser652Gly)
c.1909A>G (p.Ser637Gly)
n.2161A>G
c.2062A>G (p.Ser688Gly)
c.967A>G (p.Ser323Gly)
c.556A>G (p.Ser186Gly)
n.2079A>G
5g.13901350T>GCA359205308DNAH5c.1954A>C (p.Ser652Arg)
c.1909A>C (p.Ser637Arg)
n.2161A>C
c.2062A>C (p.Ser688Arg)
c.967A>C (p.Ser323Arg)
c.556A>C (p.Ser186Arg)
n.2079A>C
 gnomAD v4
5g.13901351T>ACA443536740DNAH5c.1953A>T (p.Leu651=)
c.1908A>T (p.Leu636=)
n.2160A>T
c.2061A>T (p.Leu687=)
c.966A>T (p.Leu322=)
c.555A>T (p.Leu185=)
n.2078A>T
5g.13901351T>CCA443536739DNAH5c.1953A>G (p.Leu651=)
c.1908A>G (p.Leu636=)
n.2160A>G
c.2061A>G (p.Leu687=)
c.966A>G (p.Leu322=)
c.555A>G (p.Leu185=)
n.2078A>G
5g.13901351T>GCA443536738DNAH5c.1953A>C (p.Leu651=)
c.1908A>C (p.Leu636=)
n.2160A>C
c.2061A>C (p.Leu687=)
c.966A>C (p.Leu322=)
c.555A>C (p.Leu185=)
n.2078A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13901351T=CA1528490424DNAH5c.1953A= (p.Leu651=)
c.1908A= (p.Leu636=)
n.2160A=
c.2061A= (p.Leu687=)
c.966A= (p.Leu322=)
c.555A= (p.Leu185=)
n.2078A=
5g.13901352A>CCA359205310DNAH5c.1952T>G (p.Leu651Arg)
c.1907T>G (p.Leu636Arg)
n.2159T>G
c.2060T>G (p.Leu687Arg)
c.965T>G (p.Leu322Arg)
c.554T>G (p.Leu185Arg)
n.2077T>G
5g.13901352A>GCA359205313DNAH5c.1952T>C (p.Leu651Pro)
c.1907T>C (p.Leu636Pro)
n.2159T>C
c.2060T>C (p.Leu687Pro)
c.965T>C (p.Leu322Pro)
c.554T>C (p.Leu185Pro)
n.2077T>C
 COSMIC
5g.13901352A>TCA359205314DNAH5c.1952T>A (p.Leu651Gln)
c.1907T>A (p.Leu636Gln)
n.2159T>A
c.2060T>A (p.Leu687Gln)
c.965T>A (p.Leu322Gln)
c.554T>A (p.Leu185Gln)
n.2077T>A
5g.13901353G>ACA443536741DNAH5c.1951C>T (p.Leu651=)
c.1906C>T (p.Leu636=)
n.2158C>T
c.2059C>T (p.Leu687=)
c.964C>T (p.Leu322=)
c.553C>T (p.Leu185=)
n.2076C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13901353G>CCA359205317DNAH5c.1951C>G (p.Leu651Val)
c.1906C>G (p.Leu636Val)
n.2158C>G
c.2059C>G (p.Leu687Val)
c.964C>G (p.Leu322Val)
c.553C>G (p.Leu185Val)
n.2076C>G
5g.13901353G=CA1528490425DNAH5c.1951C= (p.Leu651=)
c.1906C= (p.Leu636=)
n.2158C=
c.2059C= (p.Leu687=)
c.964C= (p.Leu322=)
c.553C= (p.Leu185=)
n.2076C=
5g.13901353G>TCA359205318DNAH5c.1951C>A (p.Leu651Ile)
c.1906C>A (p.Leu636Ile)
n.2158C>A
c.2059C>A (p.Leu687Ile)
c.964C>A (p.Leu322Ile)
c.553C>A (p.Leu185Ile)
n.2076C>A

Number of alleles fetched