Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13735209A>CCA359223087DNAH5c.11683T>G (p.Phe3895Val)
c.11638T>G (p.Phe3880Val)
c.11791T>G (p.Phe3931Val)
c.10696T>G (p.Phe3566Val)
c.6880T>G (p.Phe2294Val)
c.6433T>G (p.Phe2145Val)
c.5770T>G (p.Phe1924Val)
c.10285T>G (p.Phe3429Val)
5g.13735209A>GCA359223091DNAH5c.11683T>C (p.Phe3895Leu)
c.11638T>C (p.Phe3880Leu)
c.11791T>C (p.Phe3931Leu)
c.10696T>C (p.Phe3566Leu)
c.6880T>C (p.Phe2294Leu)
c.6433T>C (p.Phe2145Leu)
c.5770T>C (p.Phe1924Leu)
c.10285T>C (p.Phe3429Leu)
5g.13735209A>TCA359223093DNAH5c.11683T>A (p.Phe3895Ile)
c.11638T>A (p.Phe3880Ile)
c.11791T>A (p.Phe3931Ile)
c.10696T>A (p.Phe3566Ile)
c.6880T>A (p.Phe2294Ile)
c.6433T>A (p.Phe2145Ile)
c.5770T>A (p.Phe1924Ile)
c.10285T>A (p.Phe3429Ile)
5g.13735210C>ACA113926944DNAH5c.11682G>T (p.Leu3894=)
c.11637G>T (p.Leu3879=)
c.11790G>T (p.Leu3930=)
c.10695G>T (p.Leu3565=)
c.6879G>T (p.Leu2293=)
c.6432G>T (p.Leu2144=)
c.5769G>T (p.Leu1923=)
c.10284G>T (p.Leu3428=)
 dbSNP
5g.13735210C=CA1528414835DNAH5c.11682G= (p.Leu3894=)
c.11637G= (p.Leu3879=)
c.11790G= (p.Leu3930=)
c.10695G= (p.Leu3565=)
c.6879G= (p.Leu2293=)
c.6432G= (p.Leu2144=)
c.5769G= (p.Leu1923=)
c.10284G= (p.Leu3428=)
5g.13735210C>GCA443260017DNAH5c.11682G>C (p.Leu3894=)
c.11637G>C (p.Leu3879=)
c.11790G>C (p.Leu3930=)
c.10695G>C (p.Leu3565=)
c.6879G>C (p.Leu2293=)
c.6432G>C (p.Leu2144=)
c.5769G>C (p.Leu1923=)
c.10284G>C (p.Leu3428=)
5g.13735210C>TCA443260016DNAH5c.11682G>A (p.Leu3894=)
c.11637G>A (p.Leu3879=)
c.11790G>A (p.Leu3930=)
c.10695G>A (p.Leu3565=)
c.6879G>A (p.Leu2293=)
c.6432G>A (p.Leu2144=)
c.5769G>A (p.Leu1923=)
c.10284G>A (p.Leu3428=)
5g.13735211A=CA1528414836DNAH5c.11681T= (p.Leu3894=)
c.11636T= (p.Leu3879=)
c.11789T= (p.Leu3930=)
c.10694T= (p.Leu3565=)
c.6878T= (p.Leu2293=)
c.6431T= (p.Leu2144=)
c.5768T= (p.Leu1923=)
c.10283T= (p.Leu3428=)
5g.13735211A>CCA359223098DNAH5c.11681T>G (p.Leu3894Arg)
c.11636T>G (p.Leu3879Arg)
c.11789T>G (p.Leu3930Arg)
c.10694T>G (p.Leu3565Arg)
c.6878T>G (p.Leu2293Arg)
c.6431T>G (p.Leu2144Arg)
c.5768T>G (p.Leu1923Arg)
c.10283T>G (p.Leu3428Arg)
5g.13735211A>GCA3201876DNAH5c.11681T>C (p.Leu3894Pro)
c.11636T>C (p.Leu3879Pro)
c.11789T>C (p.Leu3930Pro)
c.10694T>C (p.Leu3565Pro)
c.6878T>C (p.Leu2293Pro)
c.6431T>C (p.Leu2144Pro)
c.5768T>C (p.Leu1923Pro)
c.10283T>C (p.Leu3428Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735211A>TCA3201877DNAH5c.11681T>A (p.Leu3894Gln)
c.11636T>A (p.Leu3879Gln)
c.11789T>A (p.Leu3930Gln)
c.10694T>A (p.Leu3565Gln)
c.6878T>A (p.Leu2293Gln)
c.6431T>A (p.Leu2144Gln)
c.5768T>A (p.Leu1923Gln)
c.10283T>A (p.Leu3428Gln)
 dbSNP ExAC
5g.13735212G>ACA443260018DNAH5c.11680C>T (p.Leu3894=)
c.11635C>T (p.Leu3879=)
c.11788C>T (p.Leu3930=)
c.10693C>T (p.Leu3565=)
c.6877C>T (p.Leu2293=)
c.6430C>T (p.Leu2144=)
c.5767C>T (p.Leu1923=)
c.10282C>T (p.Leu3428=)
5g.13735212G>CCA359223105DNAH5c.11680C>G (p.Leu3894Val)
c.11635C>G (p.Leu3879Val)
c.11788C>G (p.Leu3930Val)
c.10693C>G (p.Leu3565Val)
c.6877C>G (p.Leu2293Val)
c.6430C>G (p.Leu2144Val)
c.5767C>G (p.Leu1923Val)
c.10282C>G (p.Leu3428Val)
5g.13735212G>TCA359223108DNAH5c.11680C>A (p.Leu3894Met)
c.11635C>A (p.Leu3879Met)
c.11788C>A (p.Leu3930Met)
c.10693C>A (p.Leu3565Met)
c.6877C>A (p.Leu2293Met)
c.6430C>A (p.Leu2144Met)
c.5767C>A (p.Leu1923Met)
c.10282C>A (p.Leu3428Met)
5g.13735212_13735216dupCA2580071990DNAH5c.11676_11680dup (p.Leu3894HisfsTer10)
c.11631_11635dup (p.Leu3879HisfsTer10)
c.11784_11788dup (p.Leu3930HisfsTer10)
c.10689_10693dup (p.Leu3565HisfsTer10)
c.6873_6877dup (p.Leu2293HisfsTer10)
c.6426_6430dup (p.Leu2144HisfsTer10)
c.5763_5767dup (p.Leu1923HisfsTer10)
c.10278_10282dup (p.Leu3428HisfsTer10)
 ClinVar
5g.13735213G>ACA443260019DNAH5c.11679C>T (p.Phe3893=)
c.11634C>T (p.Phe3878=)
c.11787C>T (p.Phe3929=)
c.10692C>T (p.Phe3564=)
c.6876C>T (p.Phe2292=)
c.6429C>T (p.Phe2143=)
c.5766C>T (p.Phe1922=)
c.10281C>T (p.Phe3427=)
 gnomAD v4 COSMIC
5g.13735213G>CCA359223110DNAH5c.11679C>G (p.Phe3893Leu)
c.11634C>G (p.Phe3878Leu)
c.11787C>G (p.Phe3929Leu)
c.10692C>G (p.Phe3564Leu)
c.6876C>G (p.Phe2292Leu)
c.6429C>G (p.Phe2143Leu)
c.5766C>G (p.Phe1922Leu)
c.10281C>G (p.Phe3427Leu)
5g.13735213G>TCA359223114DNAH5c.11679C>A (p.Phe3893Leu)
c.11634C>A (p.Phe3878Leu)
c.11787C>A (p.Phe3929Leu)
c.10692C>A (p.Phe3564Leu)
c.6876C>A (p.Phe2292Leu)
c.6429C>A (p.Phe2143Leu)
c.5766C>A (p.Phe1922Leu)
c.10281C>A (p.Phe3427Leu)
5g.13735214A>CCA359223117DNAH5c.11678T>G (p.Phe3893Cys)
c.11633T>G (p.Phe3878Cys)
c.11786T>G (p.Phe3929Cys)
c.10691T>G (p.Phe3564Cys)
c.6875T>G (p.Phe2292Cys)
c.6428T>G (p.Phe2143Cys)
c.5765T>G (p.Phe1922Cys)
c.10280T>G (p.Phe3427Cys)
5g.13735214A>GCA359223119DNAH5c.11678T>C (p.Phe3893Ser)
c.11633T>C (p.Phe3878Ser)
c.11786T>C (p.Phe3929Ser)
c.10691T>C (p.Phe3564Ser)
c.6875T>C (p.Phe2292Ser)
c.6428T>C (p.Phe2143Ser)
c.5765T>C (p.Phe1922Ser)
c.10280T>C (p.Phe3427Ser)
5g.13735214A>TCA359223121DNAH5c.11678T>A (p.Phe3893Tyr)
c.11633T>A (p.Phe3878Tyr)
c.11786T>A (p.Phe3929Tyr)
c.10691T>A (p.Phe3564Tyr)
c.6875T>A (p.Phe2292Tyr)
c.6428T>A (p.Phe2143Tyr)
c.5765T>A (p.Phe1922Tyr)
c.10280T>A (p.Phe3427Tyr)
5g.13735215A>CCA359223126DNAH5c.11677T>G (p.Phe3893Val)
c.11632T>G (p.Phe3878Val)
c.11785T>G (p.Phe3929Val)
c.10690T>G (p.Phe3564Val)
c.6874T>G (p.Phe2292Val)
c.6427T>G (p.Phe2143Val)
c.5764T>G (p.Phe1922Val)
c.10279T>G (p.Phe3427Val)
5g.13735215A>GCA359223129DNAH5c.11677T>C (p.Phe3893Leu)
c.11632T>C (p.Phe3878Leu)
c.11785T>C (p.Phe3929Leu)
c.10690T>C (p.Phe3564Leu)
c.6874T>C (p.Phe2292Leu)
c.6427T>C (p.Phe2143Leu)
c.5764T>C (p.Phe1922Leu)
c.10279T>C (p.Phe3427Leu)
5g.13735215A>TCA359223132DNAH5c.11677T>A (p.Phe3893Ile)
c.11632T>A (p.Phe3878Ile)
c.11785T>A (p.Phe3929Ile)
c.10690T>A (p.Phe3564Ile)
c.6874T>A (p.Phe2292Ile)
c.6427T>A (p.Phe2143Ile)
c.5764T>A (p.Phe1922Ile)
c.10279T>A (p.Phe3427Ile)
5g.13735216T>ACA359223137DNAH5c.11676A>T (p.Lys3892Asn)
c.11631A>T (p.Lys3877Asn)
c.11784A>T (p.Lys3928Asn)
c.10689A>T (p.Lys3563Asn)
c.6873A>T (p.Lys2291Asn)
c.6426A>T (p.Lys2142Asn)
c.5763A>T (p.Lys1921Asn)
c.10278A>T (p.Lys3426Asn)
5g.13735216T>CCA443260020DNAH5c.11676A>G (p.Lys3892=)
c.11631A>G (p.Lys3877=)
c.11784A>G (p.Lys3928=)
c.10689A>G (p.Lys3563=)
c.6873A>G (p.Lys2291=)
c.6426A>G (p.Lys2142=)
c.5763A>G (p.Lys1921=)
c.10278A>G (p.Lys3426=)
5g.13735216T>GCA359223139DNAH5c.11676A>C (p.Lys3892Asn)
c.11631A>C (p.Lys3877Asn)
c.11784A>C (p.Lys3928Asn)
c.10689A>C (p.Lys3563Asn)
c.6873A>C (p.Lys2291Asn)
c.6426A>C (p.Lys2142Asn)
c.5763A>C (p.Lys1921Asn)
c.10278A>C (p.Lys3426Asn)
 gnomAD v4
5g.13735217T>ACA359223142DNAH5c.11675A>T (p.Lys3892Ile)
c.11630A>T (p.Lys3877Ile)
c.11783A>T (p.Lys3928Ile)
c.10688A>T (p.Lys3563Ile)
c.6872A>T (p.Lys2291Ile)
c.6425A>T (p.Lys2142Ile)
c.5762A>T (p.Lys1921Ile)
c.10277A>T (p.Lys3426Ile)
5g.13735217T>CCA359223146DNAH5c.11675A>G (p.Lys3892Arg)
c.11630A>G (p.Lys3877Arg)
c.11783A>G (p.Lys3928Arg)
c.10688A>G (p.Lys3563Arg)
c.6872A>G (p.Lys2291Arg)
c.6425A>G (p.Lys2142Arg)
c.5762A>G (p.Lys1921Arg)
c.10277A>G (p.Lys3426Arg)
5g.13735217T>GCA359223149DNAH5c.11675A>C (p.Lys3892Thr)
c.11630A>C (p.Lys3877Thr)
c.11783A>C (p.Lys3928Thr)
c.10688A>C (p.Lys3563Thr)
c.6872A>C (p.Lys2291Thr)
c.6425A>C (p.Lys2142Thr)
c.5762A>C (p.Lys1921Thr)
c.10277A>C (p.Lys3426Thr)
5g.13735218T>ACA359223153DNAH5c.11674A>T (p.Lys3892Ter)
c.11629A>T (p.Lys3877Ter)
c.11782A>T (p.Lys3928Ter)
c.10687A>T (p.Lys3563Ter)
c.6871A>T (p.Lys2291Ter)
c.6424A>T (p.Lys2142Ter)
c.5761A>T (p.Lys1921Ter)
c.10276A>T (p.Lys3426Ter)
5g.13735218T>CCA359223154DNAH5c.11674A>G (p.Lys3892Glu)
c.11629A>G (p.Lys3877Glu)
c.11782A>G (p.Lys3928Glu)
c.10687A>G (p.Lys3563Glu)
c.6871A>G (p.Lys2291Glu)
c.6424A>G (p.Lys2142Glu)
c.5761A>G (p.Lys1921Glu)
c.10276A>G (p.Lys3426Glu)
5g.13735218T>GCA359223152DNAH5c.11674A>C (p.Lys3892Gln)
c.11629A>C (p.Lys3877Gln)
c.11782A>C (p.Lys3928Gln)
c.10687A>C (p.Lys3563Gln)
c.6871A>C (p.Lys2291Gln)
c.6424A>C (p.Lys2142Gln)
c.5761A>C (p.Lys1921Gln)
c.10276A>C (p.Lys3426Gln)
5g.13735219G>ACA443260021DNAH5c.11673C>T (p.His3891=)
c.11628C>T (p.His3876=)
c.11781C>T (p.His3927=)
c.10686C>T (p.His3562=)
c.6870C>T (p.His2290=)
c.6423C>T (p.His2141=)
c.5760C>T (p.His1920=)
c.10275C>T (p.His3425=)
5g.13735219G>CCA359223157DNAH5c.11673C>G (p.His3891Gln)
c.11628C>G (p.His3876Gln)
c.11781C>G (p.His3927Gln)
c.10686C>G (p.His3562Gln)
c.6870C>G (p.His2290Gln)
c.6423C>G (p.His2141Gln)
c.5760C>G (p.His1920Gln)
c.10275C>G (p.His3425Gln)
5g.13735219G>TCA359223156DNAH5c.11673C>A (p.His3891Gln)
c.11628C>A (p.His3876Gln)
c.11781C>A (p.His3927Gln)
c.10686C>A (p.His3562Gln)
c.6870C>A (p.His2290Gln)
c.6423C>A (p.His2141Gln)
c.5760C>A (p.His1920Gln)
c.10275C>A (p.His3425Gln)
5g.13735220T>ACA359223171DNAH5c.11672A>T (p.His3891Leu)
c.11627A>T (p.His3876Leu)
c.11780A>T (p.His3927Leu)
c.10685A>T (p.His3562Leu)
c.6869A>T (p.His2290Leu)
c.6422A>T (p.His2141Leu)
c.5759A>T (p.His1920Leu)
c.10274A>T (p.His3425Leu)
5g.13735220T>CCA359223175DNAH5c.11672A>G (p.His3891Arg)
c.11627A>G (p.His3876Arg)
c.11780A>G (p.His3927Arg)
c.10685A>G (p.His3562Arg)
c.6869A>G (p.His2290Arg)
c.6422A>G (p.His2141Arg)
c.5759A>G (p.His1920Arg)
c.10274A>G (p.His3425Arg)
5g.13735220T>GCA359223177DNAH5c.11672A>C (p.His3891Pro)
c.11627A>C (p.His3876Pro)
c.11780A>C (p.His3927Pro)
c.10685A>C (p.His3562Pro)
c.6869A>C (p.His2290Pro)
c.6422A>C (p.His2141Pro)
c.5759A>C (p.His1920Pro)
c.10274A>C (p.His3425Pro)
5g.13735221G>ACA359223181DNAH5c.11671C>T (p.His3891Tyr)
c.11626C>T (p.His3876Tyr)
c.11779C>T (p.His3927Tyr)
c.10684C>T (p.His3562Tyr)
c.6868C>T (p.His2290Tyr)
c.6421C>T (p.His2141Tyr)
c.5758C>T (p.His1920Tyr)
c.10273C>T (p.His3425Tyr)
5g.13735221G>CCA359223184DNAH5c.11671C>G (p.His3891Asp)
c.11626C>G (p.His3876Asp)
c.11779C>G (p.His3927Asp)
c.10684C>G (p.His3562Asp)
c.6868C>G (p.His2290Asp)
c.6421C>G (p.His2141Asp)
c.5758C>G (p.His1920Asp)
c.10273C>G (p.His3425Asp)
5g.13735221G=CA1528414837DNAH5c.11671C= (p.His3891=)
c.11626C= (p.His3876=)
c.11779C= (p.His3927=)
c.10684C= (p.His3562=)
c.6868C= (p.His2290=)
c.6421C= (p.His2141=)
c.5758C= (p.His1920=)
c.10273C= (p.His3425=)
5g.13735221G>TCA113926956DNAH5c.11671C>A (p.His3891Asn)
c.11626C>A (p.His3876Asn)
c.11779C>A (p.His3927Asn)
c.10684C>A (p.His3562Asn)
c.6868C>A (p.His2290Asn)
c.6421C>A (p.His2141Asn)
c.5758C>A (p.His1920Asn)
c.10273C>A (p.His3425Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735222C>ACA359223192DNAH5c.11670G>T (p.Glu3890Asp)
c.11625G>T (p.Glu3875Asp)
c.11778G>T (p.Glu3926Asp)
c.10683G>T (p.Glu3561Asp)
c.6867G>T (p.Glu2289Asp)
c.6420G>T (p.Glu2140Asp)
c.5757G>T (p.Glu1919Asp)
c.10272G>T (p.Glu3424Asp)
5g.13735222C=CA1528414838DNAH5c.11670G= (p.Glu3890=)
c.11625G= (p.Glu3875=)
c.11778G= (p.Glu3926=)
c.10683G= (p.Glu3561=)
c.6867G= (p.Glu2289=)
c.6420G= (p.Glu2140=)
c.5757G= (p.Glu1919=)
c.10272G= (p.Glu3424=)
5g.13735222C>GCA359223195DNAH5c.11670G>C (p.Glu3890Asp)
c.11625G>C (p.Glu3875Asp)
c.11778G>C (p.Glu3926Asp)
c.10683G>C (p.Glu3561Asp)
c.6867G>C (p.Glu2289Asp)
c.6420G>C (p.Glu2140Asp)
c.5757G>C (p.Glu1919Asp)
c.10272G>C (p.Glu3424Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.13735222C>TCA443260023DNAH5c.11670G>A (p.Glu3890=)
c.11625G>A (p.Glu3875=)
c.11778G>A (p.Glu3926=)
c.10683G>A (p.Glu3561=)
c.6867G>A (p.Glu2289=)
c.6420G>A (p.Glu2140=)
c.5757G>A (p.Glu1919=)
c.10272G>A (p.Glu3424=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735223T>ACA359223197DNAH5c.11669A>T (p.Glu3890Val)
c.11624A>T (p.Glu3875Val)
c.11777A>T (p.Glu3926Val)
c.10682A>T (p.Glu3561Val)
c.6866A>T (p.Glu2289Val)
c.6419A>T (p.Glu2140Val)
c.5756A>T (p.Glu1919Val)
c.10271A>T (p.Glu3424Val)
5g.13735223T>CCA359223198DNAH5c.11669A>G (p.Glu3890Gly)
c.11624A>G (p.Glu3875Gly)
c.11777A>G (p.Glu3926Gly)
c.10682A>G (p.Glu3561Gly)
c.6866A>G (p.Glu2289Gly)
c.6419A>G (p.Glu2140Gly)
c.5756A>G (p.Glu1919Gly)
c.10271A>G (p.Glu3424Gly)
5g.13735223T>GCA359223199DNAH5c.11669A>C (p.Glu3890Ala)
c.11624A>C (p.Glu3875Ala)
c.11777A>C (p.Glu3926Ala)
c.10682A>C (p.Glu3561Ala)
c.6866A>C (p.Glu2289Ala)
c.6419A>C (p.Glu2140Ala)
c.5756A>C (p.Glu1919Ala)
c.10271A>C (p.Glu3424Ala)

Number of alleles fetched