Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13735814G>ACA3201927DNAH5c.11570+4C>T (n.11570+4C>T)
c.11525+4C>T (n.11525+4C>T)
c.11678+4C>T (n.11678+4C>T)
c.10583+4C>T (n.10583+4C>T)
c.*4+4C>T (n.*4+4C>T)
c.6767+4C>T (n.6767+4C>T)
c.6320+4C>T (n.6320+4C>T)
c.5657+4C>T (n.5657+4C>T)
c.10172+4C>T (n.10172+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735814G=CA1528415096DNAH5c.11570+4C= (n.11570+4C=)
c.11525+4C= (n.11525+4C=)
c.11678+4C= (n.11678+4C=)
c.10583+4C= (n.10583+4C=)
c.*4+4C= (n.*4+4C=)
c.6767+4C= (n.6767+4C=)
c.6320+4C= (n.6320+4C=)
c.5657+4C= (n.5657+4C=)
c.10172+4C= (n.10172+4C=)
5g.13735814G>TCA2673268060DNAH5c.11570+4C>A (n.11570+4C>A)
c.11525+4C>A (n.11525+4C>A)
c.11678+4C>A (n.11678+4C>A)
c.10583+4C>A (n.10583+4C>A)
c.*4+4C>A (n.*4+4C>A)
c.6767+4C>A (n.6767+4C>A)
c.6320+4C>A (n.6320+4C>A)
c.5657+4C>A (n.5657+4C>A)
c.10172+4C>A (n.10172+4C>A)
 gnomAD v4
5g.13735816A>CCA359224470DNAH5c.11570+2T>G (n.11570+2T>G)
c.11525+2T>G (n.11525+2T>G)
c.11678+2T>G (n.11678+2T>G)
c.10583+2T>G (n.10583+2T>G)
c.*4+2T>G (n.*4+2T>G)
c.6767+2T>G (n.6767+2T>G)
c.6320+2T>G (n.6320+2T>G)
c.5657+2T>G (n.5657+2T>G)
c.10172+2T>G (n.10172+2T>G)
5g.13735816A>GCA359224473DNAH5c.11570+2T>C (n.11570+2T>C)
c.11525+2T>C (n.11525+2T>C)
c.11678+2T>C (n.11678+2T>C)
c.10583+2T>C (n.10583+2T>C)
c.*4+2T>C (n.*4+2T>C)
c.6767+2T>C (n.6767+2T>C)
c.6320+2T>C (n.6320+2T>C)
c.5657+2T>C (n.5657+2T>C)
c.10172+2T>C (n.10172+2T>C)
 ClinVar dbSNP
5g.13735816A>TCA359224475DNAH5c.11570+2T>A (n.11570+2T>A)
c.11525+2T>A (n.11525+2T>A)
c.11678+2T>A (n.11678+2T>A)
c.10583+2T>A (n.10583+2T>A)
c.*4+2T>A (n.*4+2T>A)
c.6767+2T>A (n.6767+2T>A)
c.6320+2T>A (n.6320+2T>A)
c.5657+2T>A (n.5657+2T>A)
c.10172+2T>A (n.10172+2T>A)
5g.13735817C>ACA359224478DNAH5c.11570+1G>T (n.11570+1G>T)
c.11525+1G>T (n.11525+1G>T)
c.11678+1G>T (n.11678+1G>T)
c.10583+1G>T (n.10583+1G>T)
c.*4+1G>T (n.*4+1G>T)
c.6767+1G>T (n.6767+1G>T)
c.6320+1G>T (n.6320+1G>T)
c.5657+1G>T (n.5657+1G>T)
c.10172+1G>T (n.10172+1G>T)
5g.13735817C>GCA359224480DNAH5c.11570+1G>C (n.11570+1G>C)
c.11525+1G>C (n.11525+1G>C)
c.11678+1G>C (n.11678+1G>C)
c.10583+1G>C (n.10583+1G>C)
c.*4+1G>C (n.*4+1G>C)
c.6767+1G>C (n.6767+1G>C)
c.6320+1G>C (n.6320+1G>C)
c.5657+1G>C (n.5657+1G>C)
c.10172+1G>C (n.10172+1G>C)
5g.13735817C>TCA359224482DNAH5c.11570+1G>A (n.11570+1G>A)
c.11525+1G>A (n.11525+1G>A)
c.11678+1G>A (n.11678+1G>A)
c.10583+1G>A (n.10583+1G>A)
c.*4+1G>A (n.*4+1G>A)
c.6767+1G>A (n.6767+1G>A)
c.6320+1G>A (n.6320+1G>A)
c.5657+1G>A (n.5657+1G>A)
c.10172+1G>A (n.10172+1G>A)
 gnomAD v4
5g.13735818C>ACA359224485DNAH5c.11570G>T (p.Arg3857Met)
c.11525G>T (p.Arg3842Met)
c.11678G>T (p.Arg3893Met)
c.10583G>T (p.Arg3528Met)
c.*4G>T (n.*4G>T)
c.6767G>T (p.Arg2256Met)
c.6320G>T (p.Arg2107Met)
c.5657G>T (p.Arg1886Met)
c.10172G>T (p.Arg3391Met)
5g.13735818C>GCA359224489DNAH5c.11570G>C (p.Arg3857Thr)
c.11525G>C (p.Arg3842Thr)
c.11678G>C (p.Arg3893Thr)
c.10583G>C (p.Arg3528Thr)
c.*4G>C (n.*4G>C)
c.6767G>C (p.Arg2256Thr)
c.6320G>C (p.Arg2107Thr)
c.5657G>C (p.Arg1886Thr)
c.10172G>C (p.Arg3391Thr)
5g.13735818C>TCA359224487DNAH5c.11570G>A (p.Arg3857Lys)
c.11525G>A (p.Arg3842Lys)
c.11678G>A (p.Arg3893Lys)
c.10583G>A (p.Arg3528Lys)
c.*4G>A (n.*4G>A)
c.6767G>A (p.Arg2256Lys)
c.6320G>A (p.Arg2107Lys)
c.5657G>A (p.Arg1886Lys)
c.10172G>A (p.Arg3391Lys)
5g.13735819T>ACA359224492DNAH5c.11569A>T (p.Arg3857Trp)
c.11524A>T (p.Arg3842Trp)
c.11677A>T (p.Arg3893Trp)
c.10582A>T (p.Arg3528Trp)
c.*3A>T (n.*3A>T)
c.6766A>T (p.Arg2256Trp)
c.6319A>T (p.Arg2107Trp)
c.5656A>T (p.Arg1886Trp)
c.10171A>T (p.Arg3391Trp)
5g.13735819T>CCA359224494DNAH5c.11569A>G (p.Arg3857Gly)
c.11524A>G (p.Arg3842Gly)
c.11677A>G (p.Arg3893Gly)
c.10582A>G (p.Arg3528Gly)
c.*3A>G (n.*3A>G)
c.6766A>G (p.Arg2256Gly)
c.6319A>G (p.Arg2107Gly)
c.5656A>G (p.Arg1886Gly)
c.10171A>G (p.Arg3391Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.13735819T>GCA443260234DNAH5c.11569A>C (p.Arg3857=)
c.11524A>C (p.Arg3842=)
c.11677A>C (p.Arg3893=)
c.10582A>C (p.Arg3528=)
c.*3A>C (n.*3A>C)
c.6766A>C (p.Arg2256=)
c.6319A>C (p.Arg2107=)
c.5656A>C (p.Arg1886=)
c.10171A>C (p.Arg3391=)
5g.13735819T=CA1528415097DNAH5c.11569A= (p.Arg3857=)
c.11524A= (p.Arg3842=)
c.11677A= (p.Arg3893=)
c.10582A= (p.Arg3528=)
c.*3A= (n.*3A=)
c.6766A= (p.Arg2256=)
c.6319A= (p.Arg2107=)
c.5656A= (p.Arg1886=)
c.10171A= (p.Arg3391=)
5g.13735820G>ACA443260235DNAH5c.11568C>T (p.Ala3856=)
c.11523C>T (p.Ala3841=)
c.11676C>T (p.Ala3892=)
c.10581C>T (p.Ala3527=)
c.*2C>T (n.*2C>T)
c.6765C>T (p.Ala2255=)
c.6318C>T (p.Ala2106=)
c.5655C>T (p.Ala1885=)
c.10170C>T (p.Ala3390=)
 gnomAD v4
5g.13735820G>CCA443260236DNAH5c.11568C>G (p.Ala3856=)
c.11523C>G (p.Ala3841=)
c.11676C>G (p.Ala3892=)
c.10581C>G (p.Ala3527=)
c.*2C>G (n.*2C>G)
c.6765C>G (p.Ala2255=)
c.6318C>G (p.Ala2106=)
c.5655C>G (p.Ala1885=)
c.10170C>G (p.Ala3390=)
5g.13735820G>TCA443260237DNAH5c.11568C>A (p.Ala3856=)
c.11523C>A (p.Ala3841=)
c.11676C>A (p.Ala3892=)
c.10581C>A (p.Ala3527=)
c.*2C>A (n.*2C>A)
c.6765C>A (p.Ala2255=)
c.6318C>A (p.Ala2106=)
c.5655C>A (p.Ala1885=)
c.10170C>A (p.Ala3390=)
5g.13735821G>ACA359224497DNAH5c.11567C>T (p.Ala3856Val)
c.11522C>T (p.Ala3841Val)
c.11675C>T (p.Ala3892Val)
c.10580C>T (p.Ala3527Val)
c.*1C>T (n.*1C>T)
c.6764C>T (p.Ala2255Val)
c.6317C>T (p.Ala2106Val)
c.5654C>T (p.Ala1885Val)
c.10169C>T (p.Ala3390Val)
 gnomAD v4
5g.13735821G>CCA359224503DNAH5c.11567C>G (p.Ala3856Gly)
c.11522C>G (p.Ala3841Gly)
c.11675C>G (p.Ala3892Gly)
c.10580C>G (p.Ala3527Gly)
c.*1C>G (n.*1C>G)
c.6764C>G (p.Ala2255Gly)
c.6317C>G (p.Ala2106Gly)
c.5654C>G (p.Ala1885Gly)
c.10169C>G (p.Ala3390Gly)
 dbSNP
5g.13735821G=CA1528415098DNAH5c.11567C= (p.Ala3856=)
c.11522C= (p.Ala3841=)
c.11675C= (p.Ala3892=)
c.10580C= (p.Ala3527=)
c.*1C= (n.*1C=)
c.6764C= (p.Ala2255=)
c.6317C= (p.Ala2106=)
c.5654C= (p.Ala1885=)
c.10169C= (p.Ala3390=)
5g.13735821G>TCA359224498DNAH5c.11567C>A (p.Ala3856Asp)
c.11522C>A (p.Ala3841Asp)
c.11675C>A (p.Ala3892Asp)
c.10580C>A (p.Ala3527Asp)
c.*1C>A (n.*1C>A)
c.6764C>A (p.Ala2255Asp)
c.6317C>A (p.Ala2106Asp)
c.5654C>A (p.Ala1885Asp)
c.10169C>A (p.Ala3390Asp)
5g.13735822C>ACA359224507DNAH5c.11566G>T (p.Ala3856Ser)
c.11521G>T (p.Ala3841Ser)
c.11674G>T (p.Ala3892Ser)
c.10579G>T (p.Ala3527Ser)
c.11430G>T (p.Ter3810Tyr)
c.6763G>T (p.Ala2255Ser)
c.6316G>T (p.Ala2106Ser)
c.5653G>T (p.Ala1885Ser)
c.10168G>T (p.Ala3390Ser)
5g.13735822C>GCA359224508DNAH5c.11566G>C (p.Ala3856Pro)
c.11521G>C (p.Ala3841Pro)
c.11674G>C (p.Ala3892Pro)
c.10579G>C (p.Ala3527Pro)
c.11430G>C (p.Ter3810Tyr)
c.6763G>C (p.Ala2255Pro)
c.6316G>C (p.Ala2106Pro)
c.5653G>C (p.Ala1885Pro)
c.10168G>C (p.Ala3390Pro)
5g.13735822C>TCA359224511DNAH5c.11566G>A (p.Ala3856Thr)
c.11521G>A (p.Ala3841Thr)
c.11674G>A (p.Ala3892Thr)
c.10579G>A (p.Ala3527Thr)
c.11430G>A (p.Ter3810=)
c.6763G>A (p.Ala2255Thr)
c.6316G>A (p.Ala2106Thr)
c.5653G>A (p.Ala1885Thr)
c.10168G>A (p.Ala3390Thr)
 gnomAD v4
5g.13735823T>ACA359224514DNAH5c.11565A>T (p.Leu3855Phe)
c.11520A>T (p.Leu3840Phe)
c.11673A>T (p.Leu3891Phe)
c.10578A>T (p.Leu3526Phe)
c.11429A>T (p.Ter3810Leu)
c.6762A>T (p.Leu2254Phe)
c.6315A>T (p.Leu2105Phe)
c.5652A>T (p.Leu1884Phe)
c.10167A>T (p.Leu3389Phe)
5g.13735823T>CCA443260241DNAH5c.11565A>G (p.Leu3855=)
c.11520A>G (p.Leu3840=)
c.11673A>G (p.Leu3891=)
c.10578A>G (p.Leu3526=)
c.11429A>G (p.Ter3810Trp)
c.6762A>G (p.Leu2254=)
c.6315A>G (p.Leu2105=)
c.5652A>G (p.Leu1884=)
c.10167A>G (p.Leu3389=)
5g.13735823T>GCA359224518DNAH5c.11565A>C (p.Leu3855Phe)
c.11520A>C (p.Leu3840Phe)
c.11673A>C (p.Leu3891Phe)
c.10578A>C (p.Leu3526Phe)
c.11429A>C (p.Ter3810Ser)
c.6762A>C (p.Leu2254Phe)
c.6315A>C (p.Leu2105Phe)
c.5652A>C (p.Leu1884Phe)
c.10167A>C (p.Leu3389Phe)
5g.13735824A>CCA359224521DNAH5c.11564T>G (p.Leu3855Ter)
c.11519T>G (p.Leu3840Ter)
c.11672T>G (p.Leu3891Ter)
c.10577T>G (p.Leu3526Ter)
c.11428T>G (p.Ter3810Glu)
c.6761T>G (p.Leu2254Ter)
c.6314T>G (p.Leu2105Ter)
c.5651T>G (p.Leu1884Ter)
c.10166T>G (p.Leu3389Ter)
5g.13735824A>GCA359224524DNAH5c.11564T>C (p.Leu3855Ser)
c.11519T>C (p.Leu3840Ser)
c.11672T>C (p.Leu3891Ser)
c.10577T>C (p.Leu3526Ser)
c.11428T>C (p.Ter3810Gln)
c.6761T>C (p.Leu2254Ser)
c.6314T>C (p.Leu2105Ser)
c.5651T>C (p.Leu1884Ser)
c.10166T>C (p.Leu3389Ser)
5g.13735824A>TCA359224526DNAH5c.11564T>A (p.Leu3855Ter)
c.11519T>A (p.Leu3840Ter)
c.11672T>A (p.Leu3891Ter)
c.10577T>A (p.Leu3526Ter)
c.11428T>A (p.Ter3810Lys)
c.6761T>A (p.Leu2254Ter)
c.6314T>A (p.Leu2105Ter)
c.5651T>A (p.Leu1884Ter)
c.10166T>A (p.Leu3389Ter)
5g.13735825A>CCA359224530DNAH5c.11563T>G (p.Leu3855Val)
c.11518T>G (p.Leu3840Val)
c.11671T>G (p.Leu3891Val)
c.10576T>G (p.Leu3526Val)
c.11427T>G (p.Pro3809=)
c.6760T>G (p.Leu2254Val)
c.6313T>G (p.Leu2105Val)
c.5650T>G (p.Leu1884Val)
c.10165T>G (p.Leu3389Val)
5g.13735825A>GCA443260244DNAH5c.11563T>C (p.Leu3855=)
c.11518T>C (p.Leu3840=)
c.11671T>C (p.Leu3891=)
c.10576T>C (p.Leu3526=)
c.11427T>C (p.Pro3809=)
c.6760T>C (p.Leu2254=)
c.6313T>C (p.Leu2105=)
c.5650T>C (p.Leu1884=)
c.10165T>C (p.Leu3389=)
5g.13735825A>TCA359224532DNAH5c.11563T>A (p.Leu3855Ile)
c.11518T>A (p.Leu3840Ile)
c.11671T>A (p.Leu3891Ile)
c.10576T>A (p.Leu3526Ile)
c.11427T>A (p.Pro3809=)
c.6760T>A (p.Leu2254Ile)
c.6313T>A (p.Leu2105Ile)
c.5650T>A (p.Leu1884Ile)
c.10165T>A (p.Leu3389Ile)
5g.13735826G>ACA443260246DNAH5c.11562C>T (p.Ser3854=)
c.11517C>T (p.Ser3839=)
c.11670C>T (p.Ser3890=)
c.10575C>T (p.Ser3525=)
c.11426C>T (p.Pro3809Leu)
c.6759C>T (p.Ser2253=)
c.6312C>T (p.Ser2104=)
c.5649C>T (p.Ser1883=)
c.10164C>T (p.Ser3388=)
 gnomAD v4
5g.13735826G>CCA443260247DNAH5c.11562C>G (p.Ser3854=)
c.11517C>G (p.Ser3839=)
c.11670C>G (p.Ser3890=)
c.10575C>G (p.Ser3525=)
c.11426C>G (p.Pro3809Arg)
c.6759C>G (p.Ser2253=)
c.6312C>G (p.Ser2104=)
c.5649C>G (p.Ser1883=)
c.10164C>G (p.Ser3388=)
5g.13735826G>TCA443260248DNAH5c.11562C>A (p.Ser3854=)
c.11517C>A (p.Ser3839=)
c.11670C>A (p.Ser3890=)
c.10575C>A (p.Ser3525=)
c.11426C>A (p.Pro3809His)
c.6759C>A (p.Ser2253=)
c.6312C>A (p.Ser2104=)
c.5649C>A (p.Ser1883=)
c.10164C>A (p.Ser3388=)
5g.13735826_13735827insCCA2673268061DNAH5c.11561_11562insG (p.Ala3856SerfsTer15)
c.11516_11517insG (p.Ala3841SerfsTer15)
c.11669_11670insG (p.Ala3892SerfsTer15)
c.10574_10575insG (p.Ala3527SerfsTer15)
c.11425_11426insG (p.Pro3809ArgfsTer?)
c.6758_6759insG (p.Ala2255SerfsTer15)
c.6311_6312insG (p.Ala2106SerfsTer15)
c.5648_5649insG (p.Ala1885SerfsTer15)
c.10163_10164insG (p.Ala3390SerfsTer15)
 gnomAD v4
5g.13735827G>ACA113927502DNAH5c.11561C>T (p.Ser3854Phe)
c.11516C>T (p.Ser3839Phe)
c.11669C>T (p.Ser3890Phe)
c.10574C>T (p.Ser3525Phe)
c.11425C>T (p.Pro3809Ser)
c.6758C>T (p.Ser2253Phe)
c.6311C>T (p.Ser2104Phe)
c.5648C>T (p.Ser1883Phe)
c.10163C>T (p.Ser3388Phe)
 dbSNP gnomAD v3 gnomAD v4
5g.13735827G>CCA359224535DNAH5c.11561C>G (p.Ser3854Cys)
c.11516C>G (p.Ser3839Cys)
c.11669C>G (p.Ser3890Cys)
c.10574C>G (p.Ser3525Cys)
c.11425C>G (p.Pro3809Ala)
c.6758C>G (p.Ser2253Cys)
c.6311C>G (p.Ser2104Cys)
c.5648C>G (p.Ser1883Cys)
c.10163C>G (p.Ser3388Cys)
5g.13735827G=CA1528415099DNAH5c.11561C= (p.Ser3854=)
c.11516C= (p.Ser3839=)
c.11669C= (p.Ser3890=)
c.10574C= (p.Ser3525=)
c.11425C= (p.Pro3809=)
c.6758C= (p.Ser2253=)
c.6311C= (p.Ser2104=)
c.5648C= (p.Ser1883=)
c.10163C= (p.Ser3388=)
5g.13735827G>TCA359224536DNAH5c.11561C>A (p.Ser3854Tyr)
c.11516C>A (p.Ser3839Tyr)
c.11669C>A (p.Ser3890Tyr)
c.10574C>A (p.Ser3525Tyr)
c.11425C>A (p.Pro3809Thr)
c.6758C>A (p.Ser2253Tyr)
c.6311C>A (p.Ser2104Tyr)
c.5648C>A (p.Ser1883Tyr)
c.10163C>A (p.Ser3388Tyr)
5g.13735828A>CCA359224542DNAH5c.11560T>G (p.Ser3854Ala)
c.11515T>G (p.Ser3839Ala)
c.11668T>G (p.Ser3890Ala)
c.10573T>G (p.Ser3525Ala)
c.11424T>G (p.Phe3808Leu)
c.6757T>G (p.Ser2253Ala)
c.6310T>G (p.Ser2104Ala)
c.5647T>G (p.Ser1883Ala)
c.10162T>G (p.Ser3388Ala)
5g.13735828A>GCA359224544DNAH5c.11560T>C (p.Ser3854Pro)
c.11515T>C (p.Ser3839Pro)
c.11668T>C (p.Ser3890Pro)
c.10573T>C (p.Ser3525Pro)
c.11424T>C (p.Phe3808=)
c.6757T>C (p.Ser2253Pro)
c.6310T>C (p.Ser2104Pro)
c.5647T>C (p.Ser1883Pro)
c.10162T>C (p.Ser3388Pro)
5g.13735828A>TCA359224547DNAH5c.11560T>A (p.Ser3854Thr)
c.11515T>A (p.Ser3839Thr)
c.11668T>A (p.Ser3890Thr)
c.10573T>A (p.Ser3525Thr)
c.11424T>A (p.Phe3808Leu)
c.6757T>A (p.Ser2253Thr)
c.6310T>A (p.Ser2104Thr)
c.5647T>A (p.Ser1883Thr)
c.10162T>A (p.Ser3388Thr)
5g.13735829A=CA1528415100DNAH5c.11559T= (p.Leu3853=)
c.11514T= (p.Leu3838=)
c.11667T= (p.Leu3889=)
c.10572T= (p.Leu3524=)
c.11423T= (p.Phe3808=)
c.6756T= (p.Leu2252=)
c.6309T= (p.Leu2103=)
c.5646T= (p.Leu1882=)
c.10161T= (p.Leu3387=)
5g.13735829A>CCA443260255DNAH5c.11559T>G (p.Leu3853=)
c.11514T>G (p.Leu3838=)
c.11667T>G (p.Leu3889=)
c.10572T>G (p.Leu3524=)
c.11423T>G (p.Phe3808Cys)
c.6756T>G (p.Leu2252=)
c.6309T>G (p.Leu2103=)
c.5646T>G (p.Leu1882=)
c.10161T>G (p.Leu3387=)
5g.13735829A>GCA3201928DNAH5c.11559T>C (p.Leu3853=)
c.11514T>C (p.Leu3838=)
c.11667T>C (p.Leu3889=)
c.10572T>C (p.Leu3524=)
c.11423T>C (p.Phe3808Ser)
c.6756T>C (p.Leu2252=)
c.6309T>C (p.Leu2103=)
c.5646T>C (p.Leu1882=)
c.10161T>C (p.Leu3387=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735829A>TCA443260256DNAH5c.11559T>A (p.Leu3853=)
c.11514T>A (p.Leu3838=)
c.11667T>A (p.Leu3889=)
c.10572T>A (p.Leu3524=)
c.11423T>A (p.Phe3808Tyr)
c.6756T>A (p.Leu2252=)
c.6309T>A (p.Leu2103=)
c.5646T>A (p.Leu1882=)
c.10161T>A (p.Leu3387=)
5g.13735830A=CA1528415101DNAH5c.11558T= (p.Leu3853=)
c.11513T= (p.Leu3838=)
c.11666T= (p.Leu3889=)
c.10571T= (p.Leu3524=)
c.11422T= (p.Phe3808=)
c.6755T= (p.Leu2252=)
c.6308T= (p.Leu2103=)
c.5645T= (p.Leu1882=)
c.10160T= (p.Leu3387=)
5g.13735830A>CCA359224550DNAH5c.11558T>G (p.Leu3853Arg)
c.11513T>G (p.Leu3838Arg)
c.11666T>G (p.Leu3889Arg)
c.10571T>G (p.Leu3524Arg)
c.11422T>G (p.Phe3808Val)
c.6755T>G (p.Leu2252Arg)
c.6308T>G (p.Leu2103Arg)
c.5645T>G (p.Leu1882Arg)
c.10160T>G (p.Leu3387Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.13735830A>GCA359224551DNAH5c.11558T>C (p.Leu3853Pro)
c.11513T>C (p.Leu3838Pro)
c.11666T>C (p.Leu3889Pro)
c.10571T>C (p.Leu3524Pro)
c.11422T>C (p.Phe3808Leu)
c.6755T>C (p.Leu2252Pro)
c.6308T>C (p.Leu2103Pro)
c.5645T>C (p.Leu1882Pro)
c.10160T>C (p.Leu3387Pro)
5g.13735830A>TCA359224552DNAH5c.11558T>A (p.Leu3853His)
c.11513T>A (p.Leu3838His)
c.11666T>A (p.Leu3889His)
c.10571T>A (p.Leu3524His)
c.11422T>A (p.Phe3808Ile)
c.6755T>A (p.Leu2252His)
c.6308T>A (p.Leu2103His)
c.5645T>A (p.Leu1882His)
c.10160T>A (p.Leu3387His)
 COSMIC
5g.13735831G>ACA359224553DNAH5c.11557C>T (p.Leu3853Phe)
c.11512C>T (p.Leu3838Phe)
c.11665C>T (p.Leu3889Phe)
c.10570C>T (p.Leu3524Phe)
c.11421C>T (p.Thr3807=)
c.6754C>T (p.Leu2252Phe)
c.6307C>T (p.Leu2103Phe)
c.5644C>T (p.Leu1882Phe)
c.10159C>T (p.Leu3387Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.13735831G>CCA359224556DNAH5c.11557C>G (p.Leu3853Val)
c.11512C>G (p.Leu3838Val)
c.11665C>G (p.Leu3889Val)
c.10570C>G (p.Leu3524Val)
c.11421C>G (p.Thr3807=)
c.6754C>G (p.Leu2252Val)
c.6307C>G (p.Leu2103Val)
c.5644C>G (p.Leu1882Val)
c.10159C>G (p.Leu3387Val)
5g.13735831G=CA1528415102DNAH5c.11557C= (p.Leu3853=)
c.11512C= (p.Leu3838=)
c.11665C= (p.Leu3889=)
c.10570C= (p.Leu3524=)
c.11421C= (p.Thr3807=)
c.6754C= (p.Leu2252=)
c.6307C= (p.Leu2103=)
c.5644C= (p.Leu1882=)
c.10159C= (p.Leu3387=)
5g.13735831G>TCA359224558DNAH5c.11557C>A (p.Leu3853Ile)
c.11512C>A (p.Leu3838Ile)
c.11665C>A (p.Leu3889Ile)
c.10570C>A (p.Leu3524Ile)
c.11421C>A (p.Thr3807=)
c.6754C>A (p.Leu2252Ile)
c.6307C>A (p.Leu2103Ile)
c.5644C>A (p.Leu1882Ile)
c.10159C>A (p.Leu3387Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735832G>ACA3201929DNAH5c.11556C>T (p.Asp3852=)
c.11511C>T (p.Asp3837=)
c.11664C>T (p.Asp3888=)
c.10569C>T (p.Asp3523=)
c.11420C>T (p.Thr3807Ile)
c.6753C>T (p.Asp2251=)
c.6306C>T (p.Asp2102=)
c.5643C>T (p.Asp1881=)
c.10158C>T (p.Asp3386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735832G>CCA359224564DNAH5c.11556C>G (p.Asp3852Glu)
c.11511C>G (p.Asp3837Glu)
c.11664C>G (p.Asp3888Glu)
c.10569C>G (p.Asp3523Glu)
c.11420C>G (p.Thr3807Ser)
c.6753C>G (p.Asp2251Glu)
c.6306C>G (p.Asp2102Glu)
c.5643C>G (p.Asp1881Glu)
c.10158C>G (p.Asp3386Glu)
 gnomAD v4
5g.13735832G=CA1528415103DNAH5c.11556C= (p.Asp3852=)
c.11511C= (p.Asp3837=)
c.11664C= (p.Asp3888=)
c.10569C= (p.Asp3523=)
c.11420C= (p.Thr3807=)
c.6753C= (p.Asp2251=)
c.6306C= (p.Asp2102=)
c.5643C= (p.Asp1881=)
c.10158C= (p.Asp3386=)
5g.13735832G>TCA359224562DNAH5c.11556C>A (p.Asp3852Glu)
c.11511C>A (p.Asp3837Glu)
c.11664C>A (p.Asp3888Glu)
c.10569C>A (p.Asp3523Glu)
c.11420C>A (p.Thr3807Asn)
c.6753C>A (p.Asp2251Glu)
c.6306C>A (p.Asp2102Glu)
c.5643C>A (p.Asp1881Glu)
c.10158C>A (p.Asp3386Glu)
 gnomAD v4
5g.13735833T>ACA359224566DNAH5c.11555A>T (p.Asp3852Val)
c.11510A>T (p.Asp3837Val)
c.11663A>T (p.Asp3888Val)
c.10568A>T (p.Asp3523Val)
c.11419A>T (p.Thr3807Ser)
c.6752A>T (p.Asp2251Val)
c.6305A>T (p.Asp2102Val)
c.5642A>T (p.Asp1881Val)
c.10157A>T (p.Asp3386Val)
5g.13735833T>CCA359224568DNAH5c.11555A>G (p.Asp3852Gly)
c.11510A>G (p.Asp3837Gly)
c.11663A>G (p.Asp3888Gly)
c.10568A>G (p.Asp3523Gly)
c.11419A>G (p.Thr3807Ala)
c.6752A>G (p.Asp2251Gly)
c.6305A>G (p.Asp2102Gly)
c.5642A>G (p.Asp1881Gly)
c.10157A>G (p.Asp3386Gly)
5g.13735833T>GCA359224571DNAH5c.11555A>C (p.Asp3852Ala)
c.11510A>C (p.Asp3837Ala)
c.11663A>C (p.Asp3888Ala)
c.10568A>C (p.Asp3523Ala)
c.11419A>C (p.Thr3807Pro)
c.6752A>C (p.Asp2251Ala)
c.6305A>C (p.Asp2102Ala)
c.5642A>C (p.Asp1881Ala)
c.10157A>C (p.Asp3386Ala)
5g.13735834C>ACA359224574DNAH5c.11554G>T (p.Asp3852Tyr)
c.11509G>T (p.Asp3837Tyr)
c.11662G>T (p.Asp3888Tyr)
c.10567G>T (p.Asp3523Tyr)
c.11418G>T (p.Leu3806Phe)
c.6751G>T (p.Asp2251Tyr)
c.6304G>T (p.Asp2102Tyr)
c.5641G>T (p.Asp1881Tyr)
c.10156G>T (p.Asp3386Tyr)
 COSMIC
5g.13735834C>GCA359224576DNAH5c.11554G>C (p.Asp3852His)
c.11509G>C (p.Asp3837His)
c.11662G>C (p.Asp3888His)
c.10567G>C (p.Asp3523His)
c.11418G>C (p.Leu3806Phe)
c.6751G>C (p.Asp2251His)
c.6304G>C (p.Asp2102His)
c.5641G>C (p.Asp1881His)
c.10156G>C (p.Asp3386His)
5g.13735834C>TCA359224578DNAH5c.11554G>A (p.Asp3852Asn)
c.11509G>A (p.Asp3837Asn)
c.11662G>A (p.Asp3888Asn)
c.10567G>A (p.Asp3523Asn)
c.11418G>A (p.Leu3806=)
c.6751G>A (p.Asp2251Asn)
c.6304G>A (p.Asp2102Asn)
c.5641G>A (p.Asp1881Asn)
c.10156G>A (p.Asp3386Asn)
5g.13735835A=CA1528415104DNAH5c.11553T= (p.Phe3851=)
c.11508T= (p.Phe3836=)
c.11661T= (p.Phe3887=)
c.10566T= (p.Phe3522=)
c.11417T= (p.Leu3806=)
c.6750T= (p.Phe2250=)
c.6303T= (p.Phe2101=)
c.5640T= (p.Phe1880=)
c.10155T= (p.Phe3385=)
5g.13735835A>CCA359224580DNAH5c.11553T>G (p.Phe3851Leu)
c.11508T>G (p.Phe3836Leu)
c.11661T>G (p.Phe3887Leu)
c.10566T>G (p.Phe3522Leu)
c.11417T>G (p.Leu3806Trp)
c.6750T>G (p.Phe2250Leu)
c.6303T>G (p.Phe2101Leu)
c.5640T>G (p.Phe1880Leu)
c.10155T>G (p.Phe3385Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.13735835A>GCA443260268DNAH5c.11553T>C (p.Phe3851=)
c.11508T>C (p.Phe3836=)
c.11661T>C (p.Phe3887=)
c.10566T>C (p.Phe3522=)
c.11417T>C (p.Leu3806Ser)
c.6750T>C (p.Phe2250=)
c.6303T>C (p.Phe2101=)
c.5640T>C (p.Phe1880=)
c.10155T>C (p.Phe3385=)
5g.13735835A>TCA359224582DNAH5c.11553T>A (p.Phe3851Leu)
c.11508T>A (p.Phe3836Leu)
c.11661T>A (p.Phe3887Leu)
c.10566T>A (p.Phe3522Leu)
c.11417T>A (p.Leu3806Ter)
c.6750T>A (p.Phe2250Leu)
c.6303T>A (p.Phe2101Leu)
c.5640T>A (p.Phe1880Leu)
c.10155T>A (p.Phe3385Leu)
5g.13735836A>CCA359224585DNAH5c.11552T>G (p.Phe3851Cys)
c.11507T>G (p.Phe3836Cys)
c.11660T>G (p.Phe3887Cys)
c.10565T>G (p.Phe3522Cys)
c.11416T>G (p.Leu3806Val)
c.6749T>G (p.Phe2250Cys)
c.6302T>G (p.Phe2101Cys)
c.5639T>G (p.Phe1880Cys)
c.10154T>G (p.Phe3385Cys)
5g.13735836A>GCA359224587DNAH5c.11552T>C (p.Phe3851Ser)
c.11507T>C (p.Phe3836Ser)
c.11660T>C (p.Phe3887Ser)
c.10565T>C (p.Phe3522Ser)
c.11416T>C (p.Leu3806=)
c.6749T>C (p.Phe2250Ser)
c.6302T>C (p.Phe2101Ser)
c.5639T>C (p.Phe1880Ser)
c.10154T>C (p.Phe3385Ser)
5g.13735836A>TCA359224589DNAH5c.11552T>A (p.Phe3851Tyr)
c.11507T>A (p.Phe3836Tyr)
c.11660T>A (p.Phe3887Tyr)
c.10565T>A (p.Phe3522Tyr)
c.11416T>A (p.Leu3806Met)
c.6749T>A (p.Phe2250Tyr)
c.6302T>A (p.Phe2101Tyr)
c.5639T>A (p.Phe1880Tyr)
c.10154T>A (p.Phe3385Tyr)
5g.13735837A>CCA359224592DNAH5c.11551T>G (p.Phe3851Val)
c.11506T>G (p.Phe3836Val)
c.11659T>G (p.Phe3887Val)
c.10564T>G (p.Phe3522Val)
c.11415T>G (p.Tyr3805Ter)
c.6748T>G (p.Phe2250Val)
c.6301T>G (p.Phe2101Val)
c.5638T>G (p.Phe1880Val)
c.10153T>G (p.Phe3385Val)
5g.13735837A>GCA359224593DNAH5c.11551T>C (p.Phe3851Leu)
c.11506T>C (p.Phe3836Leu)
c.11659T>C (p.Phe3887Leu)
c.10564T>C (p.Phe3522Leu)
c.11415T>C (p.Tyr3805=)
c.6748T>C (p.Phe2250Leu)
c.6301T>C (p.Phe2101Leu)
c.5638T>C (p.Phe1880Leu)
c.10153T>C (p.Phe3385Leu)
5g.13735837A>TCA359224591DNAH5c.11551T>A (p.Phe3851Ile)
c.11506T>A (p.Phe3836Ile)
c.11659T>A (p.Phe3887Ile)
c.10564T>A (p.Phe3522Ile)
c.11415T>A (p.Tyr3805Ter)
c.6748T>A (p.Phe2250Ile)
c.6301T>A (p.Phe2101Ile)
c.5638T>A (p.Phe1880Ile)
c.10153T>A (p.Phe3385Ile)
5g.13735838T>ACA359224594DNAH5c.11550A>T (p.Leu3850Phe)
c.11505A>T (p.Leu3835Phe)
c.11658A>T (p.Leu3886Phe)
c.10563A>T (p.Leu3521Phe)
c.11414A>T (p.Tyr3805Phe)
c.6747A>T (p.Leu2249Phe)
c.6300A>T (p.Leu2100Phe)
c.5637A>T (p.Leu1879Phe)
c.10152A>T (p.Leu3384Phe)
 gnomAD v4
5g.13735838T>CCA443260273DNAH5c.11550A>G (p.Leu3850=)
c.11505A>G (p.Leu3835=)
c.11658A>G (p.Leu3886=)
c.10563A>G (p.Leu3521=)
c.11414A>G (p.Tyr3805Cys)
c.6747A>G (p.Leu2249=)
c.6300A>G (p.Leu2100=)
c.5637A>G (p.Leu1879=)
c.10152A>G (p.Leu3384=)
 ClinVar COSMIC
5g.13735838T>GCA359224595DNAH5c.11550A>C (p.Leu3850Phe)
c.11505A>C (p.Leu3835Phe)
c.11658A>C (p.Leu3886Phe)
c.10563A>C (p.Leu3521Phe)
c.11414A>C (p.Tyr3805Ser)
c.6747A>C (p.Leu2249Phe)
c.6300A>C (p.Leu2100Phe)
c.5637A>C (p.Leu1879Phe)
c.10152A>C (p.Leu3384Phe)
5g.13735839A>CCA359224597DNAH5c.11549T>G (p.Leu3850Ter)
c.11504T>G (p.Leu3835Ter)
c.11657T>G (p.Leu3886Ter)
c.10562T>G (p.Leu3521Ter)
c.11413T>G (p.Tyr3805Asp)
c.6746T>G (p.Leu2249Ter)
c.6299T>G (p.Leu2100Ter)
c.5636T>G (p.Leu1879Ter)
c.10151T>G (p.Leu3384Ter)
5g.13735839A>GCA359224599DNAH5c.11549T>C (p.Leu3850Ser)
c.11504T>C (p.Leu3835Ser)
c.11657T>C (p.Leu3886Ser)
c.10562T>C (p.Leu3521Ser)
c.11413T>C (p.Tyr3805His)
c.6746T>C (p.Leu2249Ser)
c.6299T>C (p.Leu2100Ser)
c.5636T>C (p.Leu1879Ser)
c.10151T>C (p.Leu3384Ser)
5g.13735839A>TCA359224601DNAH5c.11549T>A (p.Leu3850Ter)
c.11504T>A (p.Leu3835Ter)
c.11657T>A (p.Leu3886Ter)
c.10562T>A (p.Leu3521Ter)
c.11413T>A (p.Tyr3805Asn)
c.6746T>A (p.Leu2249Ter)
c.6299T>A (p.Leu2100Ter)
c.5636T>A (p.Leu1879Ter)
c.10151T>A (p.Leu3384Ter)
5g.13735840A>CCA359224604DNAH5c.11548T>G (p.Leu3850Val)
c.11503T>G (p.Leu3835Val)
c.11656T>G (p.Leu3886Val)
c.10561T>G (p.Leu3521Val)
c.11412T>G (p.Ala3804=)
c.6745T>G (p.Leu2249Val)
c.6298T>G (p.Leu2100Val)
c.5635T>G (p.Leu1879Val)
c.10150T>G (p.Leu3384Val)
 COSMIC
5g.13735840A>GCA443260278DNAH5c.11548T>C (p.Leu3850=)
c.11503T>C (p.Leu3835=)
c.11656T>C (p.Leu3886=)
c.10561T>C (p.Leu3521=)
c.11412T>C (p.Ala3804=)
c.6745T>C (p.Leu2249=)
c.6298T>C (p.Leu2100=)
c.5635T>C (p.Leu1879=)
c.10150T>C (p.Leu3384=)
5g.13735840A>TCA359224602DNAH5c.11548T>A (p.Leu3850Ile)
c.11503T>A (p.Leu3835Ile)
c.11656T>A (p.Leu3886Ile)
c.10561T>A (p.Leu3521Ile)
c.11412T>A (p.Ala3804=)
c.6745T>A (p.Leu2249Ile)
c.6298T>A (p.Leu2100Ile)
c.5635T>A (p.Leu1879Ile)
c.10150T>A (p.Leu3384Ile)
5g.13735841G>ACA3201930DNAH5c.11547C>T (p.Gly3849=)
c.11502C>T (p.Gly3834=)
c.11655C>T (p.Gly3885=)
c.10560C>T (p.Gly3520=)
c.11411C>T (p.Ala3804Val)
c.6744C>T (p.Gly2248=)
c.6297C>T (p.Gly2099=)
c.5634C>T (p.Gly1878=)
c.10149C>T (p.Gly3383=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735841G>CCA443260280DNAH5c.11547C>G (p.Gly3849=)
c.11502C>G (p.Gly3834=)
c.11655C>G (p.Gly3885=)
c.10560C>G (p.Gly3520=)
c.11411C>G (p.Ala3804Gly)
c.6744C>G (p.Gly2248=)
c.6297C>G (p.Gly2099=)
c.5634C>G (p.Gly1878=)
c.10149C>G (p.Gly3383=)
5g.13735841G=CA1528415105DNAH5c.11547C= (p.Gly3849=)
c.11502C= (p.Gly3834=)
c.11655C= (p.Gly3885=)
c.10560C= (p.Gly3520=)
c.11411C= (p.Ala3804=)
c.6744C= (p.Gly2248=)
c.6297C= (p.Gly2099=)
c.5634C= (p.Gly1878=)
c.10149C= (p.Gly3383=)
5g.13735841G>TCA443260282DNAH5c.11547C>A (p.Gly3849=)
c.11502C>A (p.Gly3834=)
c.11655C>A (p.Gly3885=)
c.10560C>A (p.Gly3520=)
c.11411C>A (p.Ala3804Asp)
c.6744C>A (p.Gly2248=)
c.6297C>A (p.Gly2099=)
c.5634C>A (p.Gly1878=)
c.10149C>A (p.Gly3383=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735842C>ACA359224608DNAH5c.11546G>T (p.Gly3849Val)
c.11501G>T (p.Gly3834Val)
c.11654G>T (p.Gly3885Val)
c.10559G>T (p.Gly3520Val)
c.11410G>T (p.Ala3804Ser)
c.6743G>T (p.Gly2248Val)
c.6296G>T (p.Gly2099Val)
c.5633G>T (p.Gly1878Val)
c.10148G>T (p.Gly3383Val)
5g.13735842C=CA1528415106DNAH5c.11546G= (p.Gly3849=)
c.11501G= (p.Gly3834=)
c.11654G= (p.Gly3885=)
c.10559G= (p.Gly3520=)
c.11410G= (p.Ala3804=)
c.6743G= (p.Gly2248=)
c.6296G= (p.Gly2099=)
c.5633G= (p.Gly1878=)
c.10148G= (p.Gly3383=)
5g.13735842C>GCA359224615DNAH5c.11546G>C (p.Gly3849Ala)
c.11501G>C (p.Gly3834Ala)
c.11654G>C (p.Gly3885Ala)
c.10559G>C (p.Gly3520Ala)
c.11410G>C (p.Ala3804Pro)
c.6743G>C (p.Gly2248Ala)
c.6296G>C (p.Gly2099Ala)
c.5633G>C (p.Gly1878Ala)
c.10148G>C (p.Gly3383Ala)
5g.13735842C>TCA359224617DNAH5c.11546G>A (p.Gly3849Asp)
c.11501G>A (p.Gly3834Asp)
c.11654G>A (p.Gly3885Asp)
c.10559G>A (p.Gly3520Asp)
c.11410G>A (p.Ala3804Thr)
c.6743G>A (p.Gly2248Asp)
c.6296G>A (p.Gly2099Asp)
c.5633G>A (p.Gly1878Asp)
c.10148G>A (p.Gly3383Asp)
 ClinVar dbSNP gnomAD v4
5g.13735843C>ACA359224619DNAH5c.11545G>T (p.Gly3849Cys)
c.11500G>T (p.Gly3834Cys)
c.11653G>T (p.Gly3885Cys)
c.10558G>T (p.Gly3520Cys)
c.11409G>T (p.Trp3803Cys)
c.6742G>T (p.Gly2248Cys)
c.6295G>T (p.Gly2099Cys)
c.5632G>T (p.Gly1878Cys)
c.10147G>T (p.Gly3383Cys)
 COSMIC
5g.13735843C=CA1528415107DNAH5c.11545G= (p.Gly3849=)
c.11500G= (p.Gly3834=)
c.11653G= (p.Gly3885=)
c.10558G= (p.Gly3520=)
c.11409G= (p.Trp3803=)
c.6742G= (p.Gly2248=)
c.6295G= (p.Gly2099=)
c.5632G= (p.Gly1878=)
c.10147G= (p.Gly3383=)
5g.13735843C>GCA359224621DNAH5c.11545G>C (p.Gly3849Arg)
c.11500G>C (p.Gly3834Arg)
c.11653G>C (p.Gly3885Arg)
c.10558G>C (p.Gly3520Arg)
c.11409G>C (p.Trp3803Cys)
c.6742G>C (p.Gly2248Arg)
c.6295G>C (p.Gly2099Arg)
c.5632G>C (p.Gly1878Arg)
c.10147G>C (p.Gly3383Arg)
5g.13735843C>TCA359224624DNAH5c.11545G>A (p.Gly3849Ser)
c.11500G>A (p.Gly3834Ser)
c.11653G>A (p.Gly3885Ser)
c.10558G>A (p.Gly3520Ser)
c.11409G>A (p.Trp3803Ter)
c.6742G>A (p.Gly2248Ser)
c.6295G>A (p.Gly2099Ser)
c.5632G>A (p.Gly1878Ser)
c.10147G>A (p.Gly3383Ser)
 dbSNP
5g.13735844C>ACA443260283DNAH5c.11544G>T (p.Leu3848=)
c.11499G>T (p.Leu3833=)
c.11652G>T (p.Leu3884=)
c.10557G>T (p.Leu3519=)
c.11408G>T (p.Trp3803Leu)
c.6741G>T (p.Leu2247=)
c.6294G>T (p.Leu2098=)
c.5631G>T (p.Leu1877=)
c.10146G>T (p.Leu3382=)
5g.13735844C>GCA443260284DNAH5c.11544G>C (p.Leu3848=)
c.11499G>C (p.Leu3833=)
c.11652G>C (p.Leu3884=)
c.10557G>C (p.Leu3519=)
c.11408G>C (p.Trp3803Ser)
c.6741G>C (p.Leu2247=)
c.6294G>C (p.Leu2098=)
c.5631G>C (p.Leu1877=)
c.10146G>C (p.Leu3382=)
5g.13735844C>TCA443260285DNAH5c.11544G>A (p.Leu3848=)
c.11499G>A (p.Leu3833=)
c.11652G>A (p.Leu3884=)
c.10557G>A (p.Leu3519=)
c.11408G>A (p.Trp3803Ter)
c.6741G>A (p.Leu2247=)
c.6294G>A (p.Leu2098=)
c.5631G>A (p.Leu1877=)
c.10146G>A (p.Leu3382=)
5g.13735845A=CA1528415108DNAH5c.11543T= (p.Leu3848=)
c.11498T= (p.Leu3833=)
c.11651T= (p.Leu3884=)
c.10556T= (p.Leu3519=)
c.11407T= (p.Trp3803=)
c.6740T= (p.Leu2247=)
c.6293T= (p.Leu2098=)
c.5630T= (p.Leu1877=)
c.10145T= (p.Leu3382=)
5g.13735845A>CCA359224626DNAH5c.11543T>G (p.Leu3848Arg)
c.11498T>G (p.Leu3833Arg)
c.11651T>G (p.Leu3884Arg)
c.10556T>G (p.Leu3519Arg)
c.11407T>G (p.Trp3803Gly)
c.6740T>G (p.Leu2247Arg)
c.6293T>G (p.Leu2098Arg)
c.5630T>G (p.Leu1877Arg)
c.10145T>G (p.Leu3382Arg)
 dbSNP
5g.13735845A>GCA359224628DNAH5c.11543T>C (p.Leu3848Pro)
c.11498T>C (p.Leu3833Pro)
c.11651T>C (p.Leu3884Pro)
c.10556T>C (p.Leu3519Pro)
c.11407T>C (p.Trp3803Arg)
c.6740T>C (p.Leu2247Pro)
c.6293T>C (p.Leu2098Pro)
c.5630T>C (p.Leu1877Pro)
c.10145T>C (p.Leu3382Pro)
5g.13735845A>TCA359224625DNAH5c.11543T>A (p.Leu3848Gln)
c.11498T>A (p.Leu3833Gln)
c.11651T>A (p.Leu3884Gln)
c.10556T>A (p.Leu3519Gln)
c.11407T>A (p.Trp3803Arg)
c.6740T>A (p.Leu2247Gln)
c.6293T>A (p.Leu2098Gln)
c.5630T>A (p.Leu1877Gln)
c.10145T>A (p.Leu3382Gln)
5g.13735846G>ACA443260287DNAH5c.11542C>T (p.Leu3848=)
c.11497C>T (p.Leu3833=)
c.11650C>T (p.Leu3884=)
c.10555C>T (p.Leu3519=)
c.11406C>T (p.Phe3802=)
c.6739C>T (p.Leu2247=)
c.6292C>T (p.Leu2098=)
c.5629C>T (p.Leu1877=)
c.10144C>T (p.Leu3382=)
5g.13735846G>CCA359224631DNAH5c.11542C>G (p.Leu3848Val)
c.11497C>G (p.Leu3833Val)
c.11650C>G (p.Leu3884Val)
c.10555C>G (p.Leu3519Val)
c.11406C>G (p.Phe3802Leu)
c.6739C>G (p.Leu2247Val)
c.6292C>G (p.Leu2098Val)
c.5629C>G (p.Leu1877Val)
c.10144C>G (p.Leu3382Val)
5g.13735846G>TCA359224632DNAH5c.11542C>A (p.Leu3848Met)
c.11497C>A (p.Leu3833Met)
c.11650C>A (p.Leu3884Met)
c.10555C>A (p.Leu3519Met)
c.11406C>A (p.Phe3802Leu)
c.6739C>A (p.Leu2247Met)
c.6292C>A (p.Leu2098Met)
c.5629C>A (p.Leu1877Met)
c.10144C>A (p.Leu3382Met)
5g.13735847A>CCA359224634DNAH5c.11541T>G (p.Phe3847Leu)
c.11496T>G (p.Phe3832Leu)
c.11649T>G (p.Phe3883Leu)
c.10554T>G (p.Phe3518Leu)
c.11405T>G (p.Phe3802Cys)
c.6738T>G (p.Phe2246Leu)
c.6291T>G (p.Phe2097Leu)
c.5628T>G (p.Phe1876Leu)
c.10143T>G (p.Phe3381Leu)
5g.13735847A>GCA443260288DNAH5c.11541T>C (p.Phe3847=)
c.11496T>C (p.Phe3832=)
c.11649T>C (p.Phe3883=)
c.10554T>C (p.Phe3518=)
c.11405T>C (p.Phe3802Ser)
c.6738T>C (p.Phe2246=)
c.6291T>C (p.Phe2097=)
c.5628T>C (p.Phe1876=)
c.10143T>C (p.Phe3381=)
5g.13735847A>TCA359224635DNAH5c.11541T>A (p.Phe3847Leu)
c.11496T>A (p.Phe3832Leu)
c.11649T>A (p.Phe3883Leu)
c.10554T>A (p.Phe3518Leu)
c.11405T>A (p.Phe3802Tyr)
c.6738T>A (p.Phe2246Leu)
c.6291T>A (p.Phe2097Leu)
c.5628T>A (p.Phe1876Leu)
c.10143T>A (p.Phe3381Leu)
5g.13735848A>CCA359224636DNAH5c.11540T>G (p.Phe3847Cys)
c.11495T>G (p.Phe3832Cys)
c.11648T>G (p.Phe3883Cys)
c.10553T>G (p.Phe3518Cys)
c.11404T>G (p.Phe3802Val)
c.6737T>G (p.Phe2246Cys)
c.6290T>G (p.Phe2097Cys)
c.5627T>G (p.Phe1876Cys)
c.10142T>G (p.Phe3381Cys)
5g.13735848A>GCA359224637DNAH5c.11540T>C (p.Phe3847Ser)
c.11495T>C (p.Phe3832Ser)
c.11648T>C (p.Phe3883Ser)
c.10553T>C (p.Phe3518Ser)
c.11404T>C (p.Phe3802Leu)
c.6737T>C (p.Phe2246Ser)
c.6290T>C (p.Phe2097Ser)
c.5627T>C (p.Phe1876Ser)
c.10142T>C (p.Phe3381Ser)
5g.13735848A>TCA359224639DNAH5c.11540T>A (p.Phe3847Tyr)
c.11495T>A (p.Phe3832Tyr)
c.11648T>A (p.Phe3883Tyr)
c.10553T>A (p.Phe3518Tyr)
c.11404T>A (p.Phe3802Ile)
c.6737T>A (p.Phe2246Tyr)
c.6290T>A (p.Phe2097Tyr)
c.5627T>A (p.Phe1876Tyr)
c.10142T>A (p.Phe3381Tyr)
5g.13735849A>CCA359224649DNAH5c.11539T>G (p.Phe3847Val)
c.11494T>G (p.Phe3832Val)
c.11647T>G (p.Phe3883Val)
c.10552T>G (p.Phe3518Val)
c.11403T>G (p.Ser3801Arg)
c.6736T>G (p.Phe2246Val)
c.6289T>G (p.Phe2097Val)
c.5626T>G (p.Phe1876Val)
c.10141T>G (p.Phe3381Val)
5g.13735849A>GCA359224656DNAH5c.11539T>C (p.Phe3847Leu)
c.11494T>C (p.Phe3832Leu)
c.11647T>C (p.Phe3883Leu)
c.10552T>C (p.Phe3518Leu)
c.11403T>C (p.Ser3801=)
c.6736T>C (p.Phe2246Leu)
c.6289T>C (p.Phe2097Leu)
c.5626T>C (p.Phe1876Leu)
c.10141T>C (p.Phe3381Leu)
5g.13735849A>TCA359224654DNAH5c.11539T>A (p.Phe3847Ile)
c.11494T>A (p.Phe3832Ile)
c.11647T>A (p.Phe3883Ile)
c.10552T>A (p.Phe3518Ile)
c.11403T>A (p.Ser3801Arg)
c.6736T>A (p.Phe2246Ile)
c.6289T>A (p.Phe2097Ile)
c.5626T>A (p.Phe1876Ile)
c.10141T>A (p.Phe3381Ile)
5g.13735850C>ACA359224658DNAH5c.11538G>T (p.Gln3846His)
c.11493G>T (p.Gln3831His)
c.11646G>T (p.Gln3882His)
c.10551G>T (p.Gln3517His)
c.11402G>T (p.Ser3801Ile)
c.6735G>T (p.Gln2245His)
c.6288G>T (p.Gln2096His)
c.5625G>T (p.Gln1875His)
c.10140G>T (p.Gln3380His)
5g.13735850C=CA1528415109DNAH5c.11538G= (p.Gln3846=)
c.11493G= (p.Gln3831=)
c.11646G= (p.Gln3882=)
c.10551G= (p.Gln3517=)
c.11402G= (p.Ser3801=)
c.6735G= (p.Gln2245=)
c.6288G= (p.Gln2096=)
c.5625G= (p.Gln1875=)
c.10140G= (p.Gln3380=)
5g.13735850C>GCA359224659DNAH5c.11538G>C (p.Gln3846His)
c.11493G>C (p.Gln3831His)
c.11646G>C (p.Gln3882His)
c.10551G>C (p.Gln3517His)
c.11402G>C (p.Ser3801Thr)
c.6735G>C (p.Gln2245His)
c.6288G>C (p.Gln2096His)
c.5625G>C (p.Gln1875His)
c.10140G>C (p.Gln3380His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735850C>TCA443260290DNAH5c.11538G>A (p.Gln3846=)
c.11493G>A (p.Gln3831=)
c.11646G>A (p.Gln3882=)
c.10551G>A (p.Gln3517=)
c.11402G>A (p.Ser3801Asn)
c.6735G>A (p.Gln2245=)
c.6288G>A (p.Gln2096=)
c.5625G>A (p.Gln1875=)
c.10140G>A (p.Gln3380=)
5g.13735851T>ACA359224662DNAH5c.11537A>T (p.Gln3846Leu)
c.11492A>T (p.Gln3831Leu)
c.11645A>T (p.Gln3882Leu)
c.10550A>T (p.Gln3517Leu)
c.11401A>T (p.Ser3801Cys)
c.6734A>T (p.Gln2245Leu)
c.6287A>T (p.Gln2096Leu)
c.5624A>T (p.Gln1875Leu)
c.10139A>T (p.Gln3380Leu)
5g.13735851T>CCA359224664DNAH5c.11537A>G (p.Gln3846Arg)
c.11492A>G (p.Gln3831Arg)
c.11645A>G (p.Gln3882Arg)
c.10550A>G (p.Gln3517Arg)
c.11401A>G (p.Ser3801Gly)
c.6734A>G (p.Gln2245Arg)
c.6287A>G (p.Gln2096Arg)
c.5624A>G (p.Gln1875Arg)
c.10139A>G (p.Gln3380Arg)
 gnomAD v4
5g.13735851T>GCA3201931DNAH5c.11537A>C (p.Gln3846Pro)
c.11492A>C (p.Gln3831Pro)
c.11645A>C (p.Gln3882Pro)
c.10550A>C (p.Gln3517Pro)
c.11401A>C (p.Ser3801Arg)
c.6734A>C (p.Gln2245Pro)
c.6287A>C (p.Gln2096Pro)
c.5624A>C (p.Gln1875Pro)
c.10139A>C (p.Gln3380Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735851T=CA1528415110DNAH5c.11537A= (p.Gln3846=)
c.11492A= (p.Gln3831=)
c.11645A= (p.Gln3882=)
c.10550A= (p.Gln3517=)
c.11401A= (p.Ser3801=)
c.6734A= (p.Gln2245=)
c.6287A= (p.Gln2096=)
c.5624A= (p.Gln1875=)
c.10139A= (p.Gln3380=)
5g.13735852G>ACA359224668DNAH5c.11536C>T (p.Gln3846Ter)
c.11491C>T (p.Gln3831Ter)
c.11644C>T (p.Gln3882Ter)
c.10549C>T (p.Gln3517Ter)
c.11400C>T (p.Ala3800=)
c.6733C>T (p.Gln2245Ter)
c.6286C>T (p.Gln2096Ter)
c.5623C>T (p.Gln1875Ter)
c.10138C>T (p.Gln3380Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735852G>CCA359224672DNAH5c.11536C>G (p.Gln3846Glu)
c.11491C>G (p.Gln3831Glu)
c.11644C>G (p.Gln3882Glu)
c.10549C>G (p.Gln3517Glu)
c.11400C>G (p.Ala3800=)
c.6733C>G (p.Gln2245Glu)
c.6286C>G (p.Gln2096Glu)
c.5623C>G (p.Gln1875Glu)
c.10138C>G (p.Gln3380Glu)
5g.13735852G=CA1528415111DNAH5c.11536C= (p.Gln3846=)
c.11491C= (p.Gln3831=)
c.11644C= (p.Gln3882=)
c.10549C= (p.Gln3517=)
c.11400C= (p.Ala3800=)
c.6733C= (p.Gln2245=)
c.6286C= (p.Gln2096=)
c.5623C= (p.Gln1875=)
c.10138C= (p.Gln3380=)
5g.13735852G>TCA359224669DNAH5c.11536C>A (p.Gln3846Lys)
c.11491C>A (p.Gln3831Lys)
c.11644C>A (p.Gln3882Lys)
c.10549C>A (p.Gln3517Lys)
c.11400C>A (p.Ala3800=)
c.6733C>A (p.Gln2245Lys)
c.6286C>A (p.Gln2096Lys)
c.5623C>A (p.Gln1875Lys)
c.10138C>A (p.Gln3380Lys)
5g.13735853G>ACA443260291DNAH5c.11535C>T (p.Arg3845=)
c.11490C>T (p.Arg3830=)
c.11643C>T (p.Arg3881=)
c.10548C>T (p.Arg3516=)
c.11399C>T (p.Ala3800Val)
c.6732C>T (p.Arg2244=)
c.6285C>T (p.Arg2095=)
c.5622C>T (p.Arg1874=)
c.10137C>T (p.Arg3379=)
5g.13735853G>CCA443260292DNAH5c.11535C>G (p.Arg3845=)
c.11490C>G (p.Arg3830=)
c.11643C>G (p.Arg3881=)
c.10548C>G (p.Arg3516=)
c.11399C>G (p.Ala3800Gly)
c.6732C>G (p.Arg2244=)
c.6285C>G (p.Arg2095=)
c.5622C>G (p.Arg1874=)
c.10137C>G (p.Arg3379=)
5g.13735853G>TCA443260293DNAH5c.11535C>A (p.Arg3845=)
c.11490C>A (p.Arg3830=)
c.11643C>A (p.Arg3881=)
c.10548C>A (p.Arg3516=)
c.11399C>A (p.Ala3800Asp)
c.6732C>A (p.Arg2244=)
c.6285C>A (p.Arg2095=)
c.5622C>A (p.Arg1874=)
c.10137C>A (p.Arg3379=)
5g.13735854C>ACA359224674DNAH5c.11534G>T (p.Arg3845Leu)
c.11489G>T (p.Arg3830Leu)
c.11642G>T (p.Arg3881Leu)
c.10547G>T (p.Arg3516Leu)
c.11398G>T (p.Ala3800Ser)
c.6731G>T (p.Arg2244Leu)
c.6284G>T (p.Arg2095Leu)
c.5621G>T (p.Arg1874Leu)
c.10136G>T (p.Arg3379Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735854C=CA1528415112DNAH5c.11534G= (p.Arg3845=)
c.11489G= (p.Arg3830=)
c.11642G= (p.Arg3881=)
c.10547G= (p.Arg3516=)
c.11398G= (p.Ala3800=)
c.6731G= (p.Arg2244=)
c.6284G= (p.Arg2095=)
c.5621G= (p.Arg1874=)
c.10136G= (p.Arg3379=)
5g.13735854C>GCA359224676DNAH5c.11534G>C (p.Arg3845Pro)
c.11489G>C (p.Arg3830Pro)
c.11642G>C (p.Arg3881Pro)
c.10547G>C (p.Arg3516Pro)
c.11398G>C (p.Ala3800Pro)
c.6731G>C (p.Arg2244Pro)
c.6284G>C (p.Arg2095Pro)
c.5621G>C (p.Arg1874Pro)
c.10136G>C (p.Arg3379Pro)
5g.13735854C>TCA359224679DNAH5c.11534G>A (p.Arg3845His)
c.11489G>A (p.Arg3830His)
c.11642G>A (p.Arg3881His)
c.10547G>A (p.Arg3516His)
c.11398G>A (p.Ala3800Thr)
c.6731G>A (p.Arg2244His)
c.6284G>A (p.Arg2095His)
c.5621G>A (p.Arg1874His)
c.10136G>A (p.Arg3379His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735855G>ACA3201932DNAH5c.11533C>T (p.Arg3845Cys)
c.11488C>T (p.Arg3830Cys)
c.11641C>T (p.Arg3881Cys)
c.10546C>T (p.Arg3516Cys)
c.11397C>T (p.Phe3799=)
c.6730C>T (p.Arg2244Cys)
c.6283C>T (p.Arg2095Cys)
c.5620C>T (p.Arg1874Cys)
c.10135C>T (p.Arg3379Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735855G>CCA359224684DNAH5c.11533C>G (p.Arg3845Gly)
c.11488C>G (p.Arg3830Gly)
c.11641C>G (p.Arg3881Gly)
c.10546C>G (p.Arg3516Gly)
c.11397C>G (p.Phe3799Leu)
c.6730C>G (p.Arg2244Gly)
c.6283C>G (p.Arg2095Gly)
c.5620C>G (p.Arg1874Gly)
c.10135C>G (p.Arg3379Gly)
5g.13735855G=CA1528415113DNAH5c.11533C= (p.Arg3845=)
c.11488C= (p.Arg3830=)
c.11641C= (p.Arg3881=)
c.10546C= (p.Arg3516=)
c.11397C= (p.Phe3799=)
c.6730C= (p.Arg2244=)
c.6283C= (p.Arg2095=)
c.5620C= (p.Arg1874=)
c.10135C= (p.Arg3379=)
5g.13735855G>TCA359224686DNAH5c.11533C>A (p.Arg3845Ser)
c.11488C>A (p.Arg3830Ser)
c.11641C>A (p.Arg3881Ser)
c.10546C>A (p.Arg3516Ser)
c.11397C>A (p.Phe3799Leu)
c.6730C>A (p.Arg2244Ser)
c.6283C>A (p.Arg2095Ser)
c.5620C>A (p.Arg1874Ser)
c.10135C>A (p.Arg3379Ser)
5g.13735856A>CCA443260297DNAH5c.11532T>G (p.Leu3844=)
c.11487T>G (p.Leu3829=)
c.11640T>G (p.Leu3880=)
c.10545T>G (p.Leu3515=)
c.11396T>G (p.Phe3799Cys)
c.6729T>G (p.Leu2243=)
c.6282T>G (p.Leu2094=)
c.5619T>G (p.Leu1873=)
c.10134T>G (p.Leu3378=)
5g.13735856A>GCA443260299DNAH5c.11532T>C (p.Leu3844=)
c.11487T>C (p.Leu3829=)
c.11640T>C (p.Leu3880=)
c.10545T>C (p.Leu3515=)
c.11396T>C (p.Phe3799Ser)
c.6729T>C (p.Leu2243=)
c.6282T>C (p.Leu2094=)
c.5619T>C (p.Leu1873=)
c.10134T>C (p.Leu3378=)
5g.13735856A>TCA443260298DNAH5c.11532T>A (p.Leu3844=)
c.11487T>A (p.Leu3829=)
c.11640T>A (p.Leu3880=)
c.10545T>A (p.Leu3515=)
c.11396T>A (p.Phe3799Tyr)
c.6729T>A (p.Leu2243=)
c.6282T>A (p.Leu2094=)
c.5619T>A (p.Leu1873=)
c.10134T>A (p.Leu3378=)
5g.13735857A>CCA359224687DNAH5c.11531T>G (p.Leu3844Arg)
c.11486T>G (p.Leu3829Arg)
c.11639T>G (p.Leu3880Arg)
c.10544T>G (p.Leu3515Arg)
c.11395T>G (p.Phe3799Val)
c.6728T>G (p.Leu2243Arg)
c.6281T>G (p.Leu2094Arg)
c.5618T>G (p.Leu1873Arg)
c.10133T>G (p.Leu3378Arg)
5g.13735857A>GCA359224688DNAH5c.11531T>C (p.Leu3844Pro)
c.11486T>C (p.Leu3829Pro)
c.11639T>C (p.Leu3880Pro)
c.10544T>C (p.Leu3515Pro)
c.11395T>C (p.Phe3799Leu)
c.6728T>C (p.Leu2243Pro)
c.6281T>C (p.Leu2094Pro)
c.5618T>C (p.Leu1873Pro)
c.10133T>C (p.Leu3378Pro)
5g.13735857A>TCA359224689DNAH5c.11531T>A (p.Leu3844His)
c.11486T>A (p.Leu3829His)
c.11639T>A (p.Leu3880His)
c.10544T>A (p.Leu3515His)
c.11395T>A (p.Phe3799Ile)
c.6728T>A (p.Leu2243His)
c.6281T>A (p.Leu2094His)
c.5618T>A (p.Leu1873His)
c.10133T>A (p.Leu3378His)
5g.13735858G>ACA359224691DNAH5c.11530C>T (p.Leu3844Phe)
c.11485C>T (p.Leu3829Phe)
c.11638C>T (p.Leu3880Phe)
c.10543C>T (p.Leu3515Phe)
c.11394C>T (p.Arg3798=)
c.6727C>T (p.Leu2243Phe)
c.6280C>T (p.Leu2094Phe)
c.5617C>T (p.Leu1873Phe)
c.10132C>T (p.Leu3378Phe)
5g.13735858G>CCA359224693DNAH5c.11530C>G (p.Leu3844Val)
c.11485C>G (p.Leu3829Val)
c.11638C>G (p.Leu3880Val)
c.10543C>G (p.Leu3515Val)
c.11394C>G (p.Arg3798=)
c.6727C>G (p.Leu2243Val)
c.6280C>G (p.Leu2094Val)
c.5617C>G (p.Leu1873Val)
c.10132C>G (p.Leu3378Val)
5g.13735858G>TCA359224695DNAH5c.11530C>A (p.Leu3844Ile)
c.11485C>A (p.Leu3829Ile)
c.11638C>A (p.Leu3880Ile)
c.10543C>A (p.Leu3515Ile)
c.11394C>A (p.Arg3798=)
c.6727C>A (p.Leu2243Ile)
c.6280C>A (p.Leu2094Ile)
c.5617C>A (p.Leu1873Ile)
c.10132C>A (p.Leu3378Ile)
5g.13735859C>ACA113927538DNAH5c.11529G>T (p.Ser3843=)
c.11484G>T (p.Ser3828=)
c.11637G>T (p.Ser3879=)
c.10542G>T (p.Ser3514=)
c.11393G>T (p.Arg3798Leu)
c.6726G>T (p.Ser2242=)
c.6279G>T (p.Ser2093=)
c.5616G>T (p.Ser1872=)
c.10131G>T (p.Ser3377=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735859C=CA1528415114DNAH5c.11529G= (p.Ser3843=)
c.11484G= (p.Ser3828=)
c.11637G= (p.Ser3879=)
c.10542G= (p.Ser3514=)
c.11393G= (p.Arg3798=)
c.6726G= (p.Ser2242=)
c.6279G= (p.Ser2093=)
c.5616G= (p.Ser1872=)
c.10131G= (p.Ser3377=)
5g.13735859C>GCA443260302DNAH5c.11529G>C (p.Ser3843=)
c.11484G>C (p.Ser3828=)
c.11637G>C (p.Ser3879=)
c.10542G>C (p.Ser3514=)
c.11393G>C (p.Arg3798Pro)
c.6726G>C (p.Ser2242=)
c.6279G>C (p.Ser2093=)
c.5616G>C (p.Ser1872=)
c.10131G>C (p.Ser3377=)
5g.13735859C>TCA443260304DNAH5c.11529G>A (p.Ser3843=)
c.11484G>A (p.Ser3828=)
c.11637G>A (p.Ser3879=)
c.10542G>A (p.Ser3514=)
c.11393G>A (p.Arg3798His)
c.6726G>A (p.Ser2242=)
c.6279G>A (p.Ser2093=)
c.5616G>A (p.Ser1872=)
c.10131G>A (p.Ser3377=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735860G>ACA3201933DNAH5c.11528C>T (p.Ser3843Leu)
c.11483C>T (p.Ser3828Leu)
c.11636C>T (p.Ser3879Leu)
c.10541C>T (p.Ser3514Leu)
c.11392C>T (p.Arg3798Cys)
c.6725C>T (p.Ser2242Leu)
c.6278C>T (p.Ser2093Leu)
c.5615C>T (p.Ser1872Leu)
c.10130C>T (p.Ser3377Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735860G>CCA3201934DNAH5c.11528C>G (p.Ser3843Trp)
c.11483C>G (p.Ser3828Trp)
c.11636C>G (p.Ser3879Trp)
c.10541C>G (p.Ser3514Trp)
c.11392C>G (p.Arg3798Gly)
c.6725C>G (p.Ser2242Trp)
c.6278C>G (p.Ser2093Trp)
c.5615C>G (p.Ser1872Trp)
c.10130C>G (p.Ser3377Trp)
 dbSNP ExAC gnomAD v2
5g.13735860G=CA1528415115DNAH5c.11528C= (p.Ser3843=)
c.11483C= (p.Ser3828=)
c.11636C= (p.Ser3879=)
c.10541C= (p.Ser3514=)
c.11392C= (p.Arg3798=)
c.6725C= (p.Ser2242=)
c.6278C= (p.Ser2093=)
c.5615C= (p.Ser1872=)
c.10130C= (p.Ser3377=)
5g.13735860G>TCA359224697DNAH5c.11528C>A (p.Ser3843Ter)
c.11483C>A (p.Ser3828Ter)
c.11636C>A (p.Ser3879Ter)
c.10541C>A (p.Ser3514Ter)
c.11392C>A (p.Arg3798Ser)
c.6725C>A (p.Ser2242Ter)
c.6278C>A (p.Ser2093Ter)
c.5615C>A (p.Ser1872Ter)
c.10130C>A (p.Ser3377Ter)
5g.13735861A>CCA359224698DNAH5c.11527T>G (p.Ser3843Ala)
c.11482T>G (p.Ser3828Ala)
c.11635T>G (p.Ser3879Ala)
c.10540T>G (p.Ser3514Ala)
c.11391T>G (p.Leu3797=)
c.6724T>G (p.Ser2242Ala)
c.6277T>G (p.Ser2093Ala)
c.5614T>G (p.Ser1872Ala)
c.10129T>G (p.Ser3377Ala)
5g.13735861A>GCA359224700DNAH5c.11527T>C (p.Ser3843Pro)
c.11482T>C (p.Ser3828Pro)
c.11635T>C (p.Ser3879Pro)
c.10540T>C (p.Ser3514Pro)
c.11391T>C (p.Leu3797=)
c.6724T>C (p.Ser2242Pro)
c.6277T>C (p.Ser2093Pro)
c.5614T>C (p.Ser1872Pro)
c.10129T>C (p.Ser3377Pro)
5g.13735861A>TCA359224708DNAH5c.11527T>A (p.Ser3843Thr)
c.11482T>A (p.Ser3828Thr)
c.11635T>A (p.Ser3879Thr)
c.10540T>A (p.Ser3514Thr)
c.11391T>A (p.Leu3797=)
c.6724T>A (p.Ser2242Thr)
c.6277T>A (p.Ser2093Thr)
c.5614T>A (p.Ser1872Thr)
c.10129T>A (p.Ser3377Thr)
5g.13735862A=CA1528415116DNAH5c.11526T= (p.Thr3842=)
c.11481T= (p.Thr3827=)
c.11634T= (p.Thr3878=)
c.10539T= (p.Thr3513=)
c.11390T= (p.Leu3797=)
c.6723T= (p.Thr2241=)
c.6276T= (p.Thr2092=)
c.5613T= (p.Thr1871=)
c.10128T= (p.Thr3376=)
5g.13735862A>CCA443260306DNAH5c.11526T>G (p.Thr3842=)
c.11481T>G (p.Thr3827=)
c.11634T>G (p.Thr3878=)
c.10539T>G (p.Thr3513=)
c.11390T>G (p.Leu3797Arg)
c.6723T>G (p.Thr2241=)
c.6276T>G (p.Thr2092=)
c.5613T>G (p.Thr1871=)
c.10128T>G (p.Thr3376=)
 gnomAD v4
5g.13735862A>GCA443260307DNAH5c.11526T>C (p.Thr3842=)
c.11481T>C (p.Thr3827=)
c.11634T>C (p.Thr3878=)
c.10539T>C (p.Thr3513=)
c.11390T>C (p.Leu3797Pro)
c.6723T>C (p.Thr2241=)
c.6276T>C (p.Thr2092=)
c.5613T>C (p.Thr1871=)
c.10128T>C (p.Thr3376=)
5g.13735862A>TCA443260308DNAH5c.11526T>A (p.Thr3842=)
c.11481T>A (p.Thr3827=)
c.11634T>A (p.Thr3878=)
c.10539T>A (p.Thr3513=)
c.11390T>A (p.Leu3797His)
c.6723T>A (p.Thr2241=)
c.6276T>A (p.Thr2092=)
c.5613T>A (p.Thr1871=)
c.10128T>A (p.Thr3376=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735863G>ACA359224711DNAH5c.11525C>T (p.Thr3842Ile)
c.11480C>T (p.Thr3827Ile)
c.11633C>T (p.Thr3878Ile)
c.10538C>T (p.Thr3513Ile)
c.11389C>T (p.Leu3797Phe)
c.6722C>T (p.Thr2241Ile)
c.6275C>T (p.Thr2092Ile)
c.5612C>T (p.Thr1871Ile)
c.10127C>T (p.Thr3376Ile)
 gnomAD v4
5g.13735863G>CCA359224712DNAH5c.11525C>G (p.Thr3842Ser)
c.11480C>G (p.Thr3827Ser)
c.11633C>G (p.Thr3878Ser)
c.10538C>G (p.Thr3513Ser)
c.11389C>G (p.Leu3797Val)
c.6722C>G (p.Thr2241Ser)
c.6275C>G (p.Thr2092Ser)
c.5612C>G (p.Thr1871Ser)
c.10127C>G (p.Thr3376Ser)
5g.13735863G>TCA359224713DNAH5c.11525C>A (p.Thr3842Asn)
c.11480C>A (p.Thr3827Asn)
c.11633C>A (p.Thr3878Asn)
c.10538C>A (p.Thr3513Asn)
c.11389C>A (p.Leu3797Ile)
c.6722C>A (p.Thr2241Asn)
c.6275C>A (p.Thr2092Asn)
c.5612C>A (p.Thr1871Asn)
c.10127C>A (p.Thr3376Asn)
5g.13735864T>ACA359224719DNAH5c.11524A>T (p.Thr3842Ser)
c.11479A>T (p.Thr3827Ser)
c.11632A>T (p.Thr3878Ser)
c.10537A>T (p.Thr3513Ser)
c.11388A>T (p.Arg3796Ser)
c.6721A>T (p.Thr2241Ser)
c.6274A>T (p.Thr2092Ser)
c.5611A>T (p.Thr1871Ser)
c.10126A>T (p.Thr3376Ser)
5g.13735864T>CCA359224715DNAH5c.11524A>G (p.Thr3842Ala)
c.11479A>G (p.Thr3827Ala)
c.11632A>G (p.Thr3878Ala)
c.10537A>G (p.Thr3513Ala)
c.11388A>G (p.Arg3796=)
c.6721A>G (p.Thr2241Ala)
c.6274A>G (p.Thr2092Ala)
c.5611A>G (p.Thr1871Ala)
c.10126A>G (p.Thr3376Ala)
5g.13735864T>GCA359224717DNAH5c.11524A>C (p.Thr3842Pro)
c.11479A>C (p.Thr3827Pro)
c.11632A>C (p.Thr3878Pro)
c.10537A>C (p.Thr3513Pro)
c.11388A>C (p.Arg3796Ser)
c.6721A>C (p.Thr2241Pro)
c.6274A>C (p.Thr2092Pro)
c.5611A>C (p.Thr1871Pro)
c.10126A>C (p.Thr3376Pro)
5g.13735865C>ACA359224726DNAH5c.11523G>T (p.Gln3841His)
c.11478G>T (p.Gln3826His)
c.11631G>T (p.Gln3877His)
c.10536G>T (p.Gln3512His)
c.11387G>T (p.Arg3796Ile)
c.6720G>T (p.Gln2240His)
c.6273G>T (p.Gln2091His)
c.5610G>T (p.Gln1870His)
c.10125G>T (p.Gln3375His)
5g.13735865C>GCA359224731DNAH5c.11523G>C (p.Gln3841His)
c.11478G>C (p.Gln3826His)
c.11631G>C (p.Gln3877His)
c.10536G>C (p.Gln3512His)
c.11387G>C (p.Arg3796Thr)
c.6720G>C (p.Gln2240His)
c.6273G>C (p.Gln2091His)
c.5610G>C (p.Gln1870His)
c.10125G>C (p.Gln3375His)
5g.13735865C>TCA443260309DNAH5c.11523G>A (p.Gln3841=)
c.11478G>A (p.Gln3826=)
c.11631G>A (p.Gln3877=)
c.10536G>A (p.Gln3512=)
c.11387G>A (p.Arg3796Lys)
c.6720G>A (p.Gln2240=)
c.6273G>A (p.Gln2091=)
c.5610G>A (p.Gln1870=)
c.10125G>A (p.Gln3375=)
5g.13735866T>ACA359224736DNAH5c.11522A>T (p.Gln3841Leu)
c.11477A>T (p.Gln3826Leu)
c.11630A>T (p.Gln3877Leu)
c.10535A>T (p.Gln3512Leu)
c.11386A>T (p.Arg3796Ter)
c.6719A>T (p.Gln2240Leu)
c.6272A>T (p.Gln2091Leu)
c.5609A>T (p.Gln1870Leu)
c.10124A>T (p.Gln3375Leu)
5g.13735866T>CCA359224747DNAH5c.11522A>G (p.Gln3841Arg)
c.11477A>G (p.Gln3826Arg)
c.11630A>G (p.Gln3877Arg)
c.10535A>G (p.Gln3512Arg)
c.11386A>G (p.Arg3796Gly)
c.6719A>G (p.Gln2240Arg)
c.6272A>G (p.Gln2091Arg)
c.5609A>G (p.Gln1870Arg)
c.10124A>G (p.Gln3375Arg)
5g.13735866T>GCA359224750DNAH5c.11522A>C (p.Gln3841Pro)
c.11477A>C (p.Gln3826Pro)
c.11630A>C (p.Gln3877Pro)
c.10535A>C (p.Gln3512Pro)
c.11386A>C (p.Arg3796=)
c.6719A>C (p.Gln2240Pro)
c.6272A>C (p.Gln2091Pro)
c.5609A>C (p.Gln1870Pro)
c.10124A>C (p.Gln3375Pro)
5g.13735867G>ACA359224759DNAH5c.11521C>T (p.Gln3841Ter)
c.11476C>T (p.Gln3826Ter)
c.11629C>T (p.Gln3877Ter)
c.10534C>T (p.Gln3512Ter)
c.11385C>T (p.Ile3795=)
c.6718C>T (p.Gln2240Ter)
c.6271C>T (p.Gln2091Ter)
c.5608C>T (p.Gln1870Ter)
c.10123C>T (p.Gln3375Ter)
5g.13735867G>CCA359224763DNAH5c.11521C>G (p.Gln3841Glu)
c.11476C>G (p.Gln3826Glu)
c.11629C>G (p.Gln3877Glu)
c.10534C>G (p.Gln3512Glu)
c.11385C>G (p.Ile3795Met)
c.6718C>G (p.Gln2240Glu)
c.6271C>G (p.Gln2091Glu)
c.5608C>G (p.Gln1870Glu)
c.10123C>G (p.Gln3375Glu)
5g.13735867G>TCA359224761DNAH5c.11521C>A (p.Gln3841Lys)
c.11476C>A (p.Gln3826Lys)
c.11629C>A (p.Gln3877Lys)
c.10534C>A (p.Gln3512Lys)
c.11385C>A (p.Ile3795=)
c.6718C>A (p.Gln2240Lys)
c.6271C>A (p.Gln2091Lys)
c.5608C>A (p.Gln1870Lys)
c.10123C>A (p.Gln3375Lys)
5g.13735868A>CCA359224764DNAH5c.11520T>G (p.Tyr3840Ter)
c.11475T>G (p.Tyr3825Ter)
c.11628T>G (p.Tyr3876Ter)
c.10533T>G (p.Tyr3511Ter)
c.11384T>G (p.Ile3795Ser)
c.6717T>G (p.Tyr2239Ter)
c.6270T>G (p.Tyr2090Ter)
c.5607T>G (p.Tyr1869Ter)
c.10122T>G (p.Tyr3374Ter)
5g.13735868A>GCA443260310DNAH5c.11520T>C (p.Tyr3840=)
c.11475T>C (p.Tyr3825=)
c.11628T>C (p.Tyr3876=)
c.10533T>C (p.Tyr3511=)
c.11384T>C (p.Ile3795Thr)
c.6717T>C (p.Tyr2239=)
c.6270T>C (p.Tyr2090=)
c.5607T>C (p.Tyr1869=)
c.10122T>C (p.Tyr3374=)
5g.13735868A>TCA359224765DNAH5c.11520T>A (p.Tyr3840Ter)
c.11475T>A (p.Tyr3825Ter)
c.11628T>A (p.Tyr3876Ter)
c.10533T>A (p.Tyr3511Ter)
c.11384T>A (p.Ile3795Asn)
c.6717T>A (p.Tyr2239Ter)
c.6270T>A (p.Tyr2090Ter)
c.5607T>A (p.Tyr1869Ter)
c.10122T>A (p.Tyr3374Ter)
5g.13735869T>ACA359224767DNAH5c.11519A>T (p.Tyr3840Phe)
c.11474A>T (p.Tyr3825Phe)
c.11627A>T (p.Tyr3876Phe)
c.10532A>T (p.Tyr3511Phe)
c.11383A>T (p.Ile3795Phe)
c.6716A>T (p.Tyr2239Phe)
c.6269A>T (p.Tyr2090Phe)
c.5606A>T (p.Tyr1869Phe)
c.10121A>T (p.Tyr3374Phe)
5g.13735869T>CCA3201935DNAH5c.11519A>G (p.Tyr3840Cys)
c.11474A>G (p.Tyr3825Cys)
c.11627A>G (p.Tyr3876Cys)
c.10532A>G (p.Tyr3511Cys)
c.11383A>G (p.Ile3795Val)
c.6716A>G (p.Tyr2239Cys)
c.6269A>G (p.Tyr2090Cys)
c.5606A>G (p.Tyr1869Cys)
c.10121A>G (p.Tyr3374Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735869T>GCA359224770DNAH5c.11519A>C (p.Tyr3840Ser)
c.11474A>C (p.Tyr3825Ser)
c.11627A>C (p.Tyr3876Ser)
c.10532A>C (p.Tyr3511Ser)
c.11383A>C (p.Ile3795Leu)
c.6716A>C (p.Tyr2239Ser)
c.6269A>C (p.Tyr2090Ser)
c.5606A>C (p.Tyr1869Ser)
c.10121A>C (p.Tyr3374Ser)
5g.13735869T=CA1528415117DNAH5c.11519A= (p.Tyr3840=)
c.11474A= (p.Tyr3825=)
c.11627A= (p.Tyr3876=)
c.10532A= (p.Tyr3511=)
c.11383A= (p.Ile3795=)
c.6716A= (p.Tyr2239=)
c.6269A= (p.Tyr2090=)
c.5606A= (p.Tyr1869=)
c.10121A= (p.Tyr3374=)
5g.13735870A=CA1528415118DNAH5c.11518T= (p.Tyr3840=)
c.11473T= (p.Tyr3825=)
c.11626T= (p.Tyr3876=)
c.10531T= (p.Tyr3511=)
c.11382T= (p.Cys3794=)
c.6715T= (p.Tyr2239=)
c.6268T= (p.Tyr2090=)
c.5605T= (p.Tyr1869=)
c.10120T= (p.Tyr3374=)
5g.13735870A>CCA359224792DNAH5c.11518T>G (p.Tyr3840Asp)
c.11473T>G (p.Tyr3825Asp)
c.11626T>G (p.Tyr3876Asp)
c.10531T>G (p.Tyr3511Asp)
c.11382T>G (p.Cys3794Trp)
c.6715T>G (p.Tyr2239Asp)
c.6268T>G (p.Tyr2090Asp)
c.5605T>G (p.Tyr1869Asp)
c.10120T>G (p.Tyr3374Asp)
5g.13735870A>GCA359224795DNAH5c.11518T>C (p.Tyr3840His)
c.11473T>C (p.Tyr3825His)
c.11626T>C (p.Tyr3876His)
c.10531T>C (p.Tyr3511His)
c.11382T>C (p.Cys3794=)
c.6715T>C (p.Tyr2239His)
c.6268T>C (p.Tyr2090His)
c.5605T>C (p.Tyr1869His)
c.10120T>C (p.Tyr3374His)
 dbSNP gnomAD v2 gnomAD v4
5g.13735870A>TCA359224804DNAH5c.11518T>A (p.Tyr3840Asn)
c.11473T>A (p.Tyr3825Asn)
c.11626T>A (p.Tyr3876Asn)
c.10531T>A (p.Tyr3511Asn)
c.11382T>A (p.Cys3794Ter)
c.6715T>A (p.Tyr2239Asn)
c.6268T>A (p.Tyr2090Asn)
c.5605T>A (p.Tyr1869Asn)
c.10120T>A (p.Tyr3374Asn)
5g.13735871C>ACA359224806DNAH5c.11517G>T (p.Met3839Ile)
c.11472G>T (p.Met3824Ile)
c.11625G>T (p.Met3875Ile)
c.10530G>T (p.Met3510Ile)
c.11381G>T (p.Cys3794Phe)
c.6714G>T (p.Met2238Ile)
c.6267G>T (p.Met2089Ile)
c.5604G>T (p.Met1868Ile)
c.10119G>T (p.Met3373Ile)
5g.13735871C>GCA359224807DNAH5c.11517G>C (p.Met3839Ile)
c.11472G>C (p.Met3824Ile)
c.11625G>C (p.Met3875Ile)
c.10530G>C (p.Met3510Ile)
c.11381G>C (p.Cys3794Ser)
c.6714G>C (p.Met2238Ile)
c.6267G>C (p.Met2089Ile)
c.5604G>C (p.Met1868Ile)
c.10119G>C (p.Met3373Ile)
 gnomAD v4
5g.13735871C>TCA359224808DNAH5c.11517G>A (p.Met3839Ile)
c.11472G>A (p.Met3824Ile)
c.11625G>A (p.Met3875Ile)
c.10530G>A (p.Met3510Ile)
c.11381G>A (p.Cys3794Tyr)
c.6714G>A (p.Met2238Ile)
c.6267G>A (p.Met2089Ile)
c.5604G>A (p.Met1868Ile)
c.10119G>A (p.Met3373Ile)
5g.13735872A>CCA359224813DNAH5c.11516T>G (p.Met3839Arg)
c.11471T>G (p.Met3824Arg)
c.11624T>G (p.Met3875Arg)
c.10529T>G (p.Met3510Arg)
c.11380T>G (p.Cys3794Gly)
c.6713T>G (p.Met2238Arg)
c.6266T>G (p.Met2089Arg)
c.5603T>G (p.Met1868Arg)
c.10118T>G (p.Met3373Arg)
5g.13735872A>GCA359224815DNAH5c.11516T>C (p.Met3839Thr)
c.11471T>C (p.Met3824Thr)
c.11624T>C (p.Met3875Thr)
c.10529T>C (p.Met3510Thr)
c.11380T>C (p.Cys3794Arg)
c.6713T>C (p.Met2238Thr)
c.6266T>C (p.Met2089Thr)
c.5603T>C (p.Met1868Thr)
c.10118T>C (p.Met3373Thr)
 gnomAD v4
5g.13735872A>TCA359224811DNAH5c.11516T>A (p.Met3839Lys)
c.11471T>A (p.Met3824Lys)
c.11624T>A (p.Met3875Lys)
c.10529T>A (p.Met3510Lys)
c.11380T>A (p.Cys3794Ser)
c.6713T>A (p.Met2238Lys)
c.6266T>A (p.Met2089Lys)
c.5603T>A (p.Met1868Lys)
c.10118T>A (p.Met3373Lys)
5g.13735873T>ACA359224825DNAH5c.11515A>T (p.Met3839Leu)
c.11470A>T (p.Met3824Leu)
c.11623A>T (p.Met3875Leu)
c.10528A>T (p.Met3510Leu)
c.11379A>T (p.Arg3793Ser)
c.6712A>T (p.Met2238Leu)
c.6265A>T (p.Met2089Leu)
c.5602A>T (p.Met1868Leu)
c.10117A>T (p.Met3373Leu)
5g.13735873T>CCA359224819DNAH5c.11515A>G (p.Met3839Val)
c.11470A>G (p.Met3824Val)
c.11623A>G (p.Met3875Val)
c.10528A>G (p.Met3510Val)
c.11379A>G (p.Arg3793=)
c.6712A>G (p.Met2238Val)
c.6265A>G (p.Met2089Val)
c.5602A>G (p.Met1868Val)
c.10117A>G (p.Met3373Val)
 dbSNP gnomAD v2 gnomAD v4
5g.13735873T>GCA359224828DNAH5c.11515A>C (p.Met3839Leu)
c.11470A>C (p.Met3824Leu)
c.11623A>C (p.Met3875Leu)
c.10528A>C (p.Met3510Leu)
c.11379A>C (p.Arg3793Ser)
c.6712A>C (p.Met2238Leu)
c.6265A>C (p.Met2089Leu)
c.5602A>C (p.Met1868Leu)
c.10117A>C (p.Met3373Leu)
5g.13735873T=CA1528415119DNAH5c.11515A= (p.Met3839=)
c.11470A= (p.Met3824=)
c.11623A= (p.Met3875=)
c.10528A= (p.Met3510=)
c.11379A= (p.Arg3793=)
c.6712A= (p.Met2238=)
c.6265A= (p.Met2089=)
c.5602A= (p.Met1868=)
c.10117A= (p.Met3373=)
5g.13735874C>ACA359224832DNAH5c.11514G>T (p.Glu3838Asp)
c.11469G>T (p.Glu3823Asp)
c.11622G>T (p.Glu3874Asp)
c.10527G>T (p.Glu3509Asp)
c.11378G>T (p.Arg3793Ile)
c.6711G>T (p.Glu2237Asp)
c.6264G>T (p.Glu2088Asp)
c.5601G>T (p.Glu1867Asp)
c.10116G>T (p.Glu3372Asp)
 dbSNP
5g.13735874C=CA1528415120DNAH5c.11514G= (p.Glu3838=)
c.11469G= (p.Glu3823=)
c.11622G= (p.Glu3874=)
c.10527G= (p.Glu3509=)
c.11378G= (p.Arg3793=)
c.6711G= (p.Glu2237=)
c.6264G= (p.Glu2088=)
c.5601G= (p.Glu1867=)
c.10116G= (p.Glu3372=)
5g.13735874C>GCA359224847DNAH5c.11514G>C (p.Glu3838Asp)
c.11469G>C (p.Glu3823Asp)
c.11622G>C (p.Glu3874Asp)
c.10527G>C (p.Glu3509Asp)
c.11378G>C (p.Arg3793Thr)
c.6711G>C (p.Glu2237Asp)
c.6264G>C (p.Glu2088Asp)
c.5601G>C (p.Glu1867Asp)
c.10116G>C (p.Glu3372Asp)
5g.13735874C>TCA443260314DNAH5c.11514G>A (p.Glu3838=)
c.11469G>A (p.Glu3823=)
c.11622G>A (p.Glu3874=)
c.10527G>A (p.Glu3509=)
c.11378G>A (p.Arg3793Lys)
c.6711G>A (p.Glu2237=)
c.6264G>A (p.Glu2088=)
c.5601G>A (p.Glu1867=)
c.10116G>A (p.Glu3372=)
 COSMIC
5g.13735875T>ACA359224848DNAH5c.11513A>T (p.Glu3838Val)
c.11468A>T (p.Glu3823Val)
c.11621A>T (p.Glu3874Val)
c.10526A>T (p.Glu3509Val)
c.11377A>T (p.Arg3793Ter)
c.6710A>T (p.Glu2237Val)
c.6263A>T (p.Glu2088Val)
c.5600A>T (p.Glu1867Val)
c.10115A>T (p.Glu3372Val)
5g.13735875T>CCA359224850DNAH5c.11513A>G (p.Glu3838Gly)
c.11468A>G (p.Glu3823Gly)
c.11621A>G (p.Glu3874Gly)
c.10526A>G (p.Glu3509Gly)
c.11377A>G (p.Arg3793Gly)
c.6710A>G (p.Glu2237Gly)
c.6263A>G (p.Glu2088Gly)
c.5600A>G (p.Glu1867Gly)
c.10115A>G (p.Glu3372Gly)
5g.13735875T>GCA359224849DNAH5c.11513A>C (p.Glu3838Ala)
c.11468A>C (p.Glu3823Ala)
c.11621A>C (p.Glu3874Ala)
c.10526A>C (p.Glu3509Ala)
c.11377A>C (p.Arg3793=)
c.6710A>C (p.Glu2237Ala)
c.6263A>C (p.Glu2088Ala)
c.5600A>C (p.Glu1867Ala)
c.10115A>C (p.Glu3372Ala)
5g.13735876C>ACA359224852DNAH5c.11512G>T (p.Glu3838Ter)
c.11467G>T (p.Glu3823Ter)
c.11620G>T (p.Glu3874Ter)
c.10525G>T (p.Glu3509Ter)
c.11376G>T (p.Met3792Ile)
c.6709G>T (p.Glu2237Ter)
c.6262G>T (p.Glu2088Ter)
c.5599G>T (p.Glu1867Ter)
c.10114G>T (p.Glu3372Ter)
5g.13735876C=CA1528415121DNAH5c.11512G= (p.Glu3838=)
c.11467G= (p.Glu3823=)
c.11620G= (p.Glu3874=)
c.10525G= (p.Glu3509=)
c.11376G= (p.Met3792=)
c.6709G= (p.Glu2237=)
c.6262G= (p.Glu2088=)
c.5599G= (p.Glu1867=)
c.10114G= (p.Glu3372=)
5g.13735876C>GCA359224854DNAH5c.11512G>C (p.Glu3838Gln)
c.11467G>C (p.Glu3823Gln)
c.11620G>C (p.Glu3874Gln)
c.10525G>C (p.Glu3509Gln)
c.11376G>C (p.Met3792Ile)
c.6709G>C (p.Glu2237Gln)
c.6262G>C (p.Glu2088Gln)
c.5599G>C (p.Glu1867Gln)
c.10114G>C (p.Glu3372Gln)
5g.13735876C>TCA3201936DNAH5c.11512G>A (p.Glu3838Lys)
c.11467G>A (p.Glu3823Lys)
c.11620G>A (p.Glu3874Lys)
c.10525G>A (p.Glu3509Lys)
c.11376G>A (p.Met3792Ile)
c.6709G>A (p.Glu2237Lys)
c.6262G>A (p.Glu2088Lys)
c.5599G>A (p.Glu1867Lys)
c.10114G>A (p.Glu3372Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735879_13735891delCA2573138435DNAH5c.11500_11512del (p.Leu3835CysfsTer17)
c.11455_11467del (p.Leu3820CysfsTer17)
c.11608_11620del (p.Leu3871CysfsTer17)
c.10513_10525del (p.Leu3506CysfsTer17)
c.11364_11376del (p.Cys3788Ter)
c.6697_6709del (p.Leu2234CysfsTer17)
c.6250_6262del (p.Leu2085CysfsTer17)
c.5587_5599del (p.Leu1864CysfsTer17)
c.10102_10114del (p.Leu3369CysfsTer17)
 ClinVar dbSNP
5g.13735877A>CCA359224869DNAH5c.11511T>G (p.Asn3837Lys)
c.11466T>G (p.Asn3822Lys)
c.11619T>G (p.Asn3873Lys)
c.10524T>G (p.Asn3508Lys)
c.11375T>G (p.Met3792Arg)
c.6708T>G (p.Asn2236Lys)
c.6261T>G (p.Asn2087Lys)
c.5598T>G (p.Asn1866Lys)
c.10113T>G (p.Asn3371Lys)
 dbSNP gnomAD v4
5g.13735877A>GCA443260317DNAH5c.11511T>C (p.Asn3837=)
c.11466T>C (p.Asn3822=)
c.11619T>C (p.Asn3873=)
c.10524T>C (p.Asn3508=)
c.11375T>C (p.Met3792Thr)
c.6708T>C (p.Asn2236=)
c.6261T>C (p.Asn2087=)
c.5598T>C (p.Asn1866=)
c.10113T>C (p.Asn3371=)
5g.13735877A>TCA359224875DNAH5c.11511T>A (p.Asn3837Lys)
c.11466T>A (p.Asn3822Lys)
c.11619T>A (p.Asn3873Lys)
c.10524T>A (p.Asn3508Lys)
c.11375T>A (p.Met3792Lys)
c.6708T>A (p.Asn2236Lys)
c.6261T>A (p.Asn2087Lys)
c.5598T>A (p.Asn1866Lys)
c.10113T>A (p.Asn3371Lys)
5g.13735878T>ACA359224877DNAH5c.11510A>T (p.Asn3837Ile)
c.11465A>T (p.Asn3822Ile)
c.11618A>T (p.Asn3873Ile)
c.10523A>T (p.Asn3508Ile)
c.11374A>T (p.Met3792Leu)
c.6707A>T (p.Asn2236Ile)
c.6260A>T (p.Asn2087Ile)
c.5597A>T (p.Asn1866Ile)
c.10112A>T (p.Asn3371Ile)
5g.13735878T>CCA359224884DNAH5c.11510A>G (p.Asn3837Ser)
c.11465A>G (p.Asn3822Ser)
c.11618A>G (p.Asn3873Ser)
c.10523A>G (p.Asn3508Ser)
c.11374A>G (p.Met3792Val)
c.6707A>G (p.Asn2236Ser)
c.6260A>G (p.Asn2087Ser)
c.5597A>G (p.Asn1866Ser)
c.10112A>G (p.Asn3371Ser)
 gnomAD v4
5g.13735878T>GCA359224885DNAH5c.11510A>C (p.Asn3837Thr)
c.11465A>C (p.Asn3822Thr)
c.11618A>C (p.Asn3873Thr)
c.10523A>C (p.Asn3508Thr)
c.11374A>C (p.Met3792Leu)
c.6707A>C (p.Asn2236Thr)
c.6260A>C (p.Asn2087Thr)
c.5597A>C (p.Asn1866Thr)
c.10112A>C (p.Asn3371Thr)
5g.13735879T>ACA3201937DNAH5c.11509A>T (p.Asn3837Tyr)
c.11464A>T (p.Asn3822Tyr)
c.11617A>T (p.Asn3873Tyr)
c.10522A>T (p.Asn3508Tyr)
c.11373A>T (p.Leu3791Phe)
c.6706A>T (p.Asn2236Tyr)
c.6259A>T (p.Asn2087Tyr)
c.5596A>T (p.Asn1866Tyr)
c.10111A>T (p.Asn3371Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735879T>CCA359224894DNAH5c.11509A>G (p.Asn3837Asp)
c.11464A>G (p.Asn3822Asp)
c.11617A>G (p.Asn3873Asp)
c.10522A>G (p.Asn3508Asp)
c.11373A>G (p.Leu3791=)
c.6706A>G (p.Asn2236Asp)
c.6259A>G (p.Asn2087Asp)
c.5596A>G (p.Asn1866Asp)
c.10111A>G (p.Asn3371Asp)
 dbSNP
5g.13735879T>GCA359224898DNAH5c.11509A>C (p.Asn3837His)
c.11464A>C (p.Asn3822His)
c.11617A>C (p.Asn3873His)
c.10522A>C (p.Asn3508His)
c.11373A>C (p.Leu3791Phe)
c.6706A>C (p.Asn2236His)
c.6259A>C (p.Asn2087His)
c.5596A>C (p.Asn1866His)
c.10111A>C (p.Asn3371His)
5g.13735879T=CA1528415122DNAH5c.11509A= (p.Asn3837=)
c.11464A= (p.Asn3822=)
c.11617A= (p.Asn3873=)
c.10522A= (p.Asn3508=)
c.11373A= (p.Leu3791=)
c.6706A= (p.Asn2236=)
c.6259A= (p.Asn2087=)
c.5596A= (p.Asn1866=)
c.10111A= (p.Asn3371=)
5g.13735880A>CCA443260318DNAH5c.11508T>G (p.Val3836=)
c.11463T>G (p.Val3821=)
c.11616T>G (p.Val3872=)
c.10521T>G (p.Val3507=)
c.11372T>G (p.Leu3791Ter)
c.6705T>G (p.Val2235=)
c.6258T>G (p.Val2086=)
c.5595T>G (p.Val1865=)
c.10110T>G (p.Val3370=)
5g.13735880A>GCA443260319DNAH5c.11508T>C (p.Val3836=)
c.11463T>C (p.Val3821=)
c.11616T>C (p.Val3872=)
c.10521T>C (p.Val3507=)
c.11372T>C (p.Leu3791Ser)
c.6705T>C (p.Val2235=)
c.6258T>C (p.Val2086=)
c.5595T>C (p.Val1865=)
c.10110T>C (p.Val3370=)
5g.13735880A>TCA443260320DNAH5c.11508T>A (p.Val3836=)
c.11463T>A (p.Val3821=)
c.11616T>A (p.Val3872=)
c.10521T>A (p.Val3507=)
c.11372T>A (p.Leu3791Ter)
c.6705T>A (p.Val2235=)
c.6258T>A (p.Val2086=)
c.5595T>A (p.Val1865=)
c.10110T>A (p.Val3370=)
5g.13735881A>CCA359224904DNAH5c.11507T>G (p.Val3836Gly)
c.11462T>G (p.Val3821Gly)
c.11615T>G (p.Val3872Gly)
c.10520T>G (p.Val3507Gly)
c.11371T>G (p.Leu3791Val)
c.6704T>G (p.Val2235Gly)
c.6257T>G (p.Val2086Gly)
c.5594T>G (p.Val1865Gly)
c.10109T>G (p.Val3370Gly)
5g.13735881A>GCA359224899DNAH5c.11507T>C (p.Val3836Ala)
c.11462T>C (p.Val3821Ala)
c.11615T>C (p.Val3872Ala)
c.10520T>C (p.Val3507Ala)
c.11371T>C (p.Leu3791=)
c.6704T>C (p.Val2235Ala)
c.6257T>C (p.Val2086Ala)
c.5594T>C (p.Val1865Ala)
c.10109T>C (p.Val3370Ala)
5g.13735881A>TCA359224901DNAH5c.11507T>A (p.Val3836Asp)
c.11462T>A (p.Val3821Asp)
c.11615T>A (p.Val3872Asp)
c.10520T>A (p.Val3507Asp)
c.11371T>A (p.Leu3791Ile)
c.6704T>A (p.Val2235Asp)
c.6257T>A (p.Val2086Asp)
c.5594T>A (p.Val1865Asp)
c.10109T>A (p.Val3370Asp)
5g.13735882C>ACA113927550DNAH5c.11506G>T (p.Val3836Phe)
c.11461G>T (p.Val3821Phe)
c.11614G>T (p.Val3872Phe)
c.10519G>T (p.Val3507Phe)
c.11370G>T (p.Trp3790Cys)
c.6703G>T (p.Val2235Phe)
c.6256G>T (p.Val2086Phe)
c.5593G>T (p.Val1865Phe)
c.10108G>T (p.Val3370Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735882C=CA1528415123DNAH5c.11506G= (p.Val3836=)
c.11461G= (p.Val3821=)
c.11614G= (p.Val3872=)
c.10519G= (p.Val3507=)
c.11370G= (p.Trp3790=)
c.6703G= (p.Val2235=)
c.6256G= (p.Val2086=)
c.5593G= (p.Val1865=)
c.10108G= (p.Val3370=)
5g.13735882C>GCA359224911DNAH5c.11506G>C (p.Val3836Leu)
c.11461G>C (p.Val3821Leu)
c.11614G>C (p.Val3872Leu)
c.10519G>C (p.Val3507Leu)
c.11370G>C (p.Trp3790Cys)
c.6703G>C (p.Val2235Leu)
c.6256G>C (p.Val2086Leu)
c.5593G>C (p.Val1865Leu)
c.10108G>C (p.Val3370Leu)
5g.13735882C>TCA359224916DNAH5c.11506G>A (p.Val3836Ile)
c.11461G>A (p.Val3821Ile)
c.11614G>A (p.Val3872Ile)
c.10519G>A (p.Val3507Ile)
c.11370G>A (p.Trp3790Ter)
c.6703G>A (p.Val2235Ile)
c.6256G>A (p.Val2086Ile)
c.5593G>A (p.Val1865Ile)
c.10108G>A (p.Val3370Ile)
5g.13735883C>ACA359224918DNAH5c.11505G>T (p.Leu3835Phe)
c.11460G>T (p.Leu3820Phe)
c.11613G>T (p.Leu3871Phe)
c.10518G>T (p.Leu3506Phe)
c.11369G>T (p.Trp3790Leu)
c.6702G>T (p.Leu2234Phe)
c.6255G>T (p.Leu2085Phe)
c.5592G>T (p.Leu1864Phe)
c.10107G>T (p.Leu3369Phe)
 gnomAD v4
5g.13735883C>GCA359224919DNAH5c.11505G>C (p.Leu3835Phe)
c.11460G>C (p.Leu3820Phe)
c.11613G>C (p.Leu3871Phe)
c.10518G>C (p.Leu3506Phe)
c.11369G>C (p.Trp3790Ser)
c.6702G>C (p.Leu2234Phe)
c.6255G>C (p.Leu2085Phe)
c.5592G>C (p.Leu1864Phe)
c.10107G>C (p.Leu3369Phe)
5g.13735883C>TCA443260322DNAH5c.11505G>A (p.Leu3835=)
c.11460G>A (p.Leu3820=)
c.11613G>A (p.Leu3871=)
c.10518G>A (p.Leu3506=)
c.11369G>A (p.Trp3790Ter)
c.6702G>A (p.Leu2234=)
c.6255G>A (p.Leu2085=)
c.5592G>A (p.Leu1864=)
c.10107G>A (p.Leu3369=)
5g.13735884A>CCA359224920DNAH5c.11504T>G (p.Leu3835Trp)
c.11459T>G (p.Leu3820Trp)
c.11612T>G (p.Leu3871Trp)
c.10517T>G (p.Leu3506Trp)
c.11368T>G (p.Trp3790Gly)
c.6701T>G (p.Leu2234Trp)
c.6254T>G (p.Leu2085Trp)
c.5591T>G (p.Leu1864Trp)
c.10106T>G (p.Leu3369Trp)
5g.13735884A>GCA359224921DNAH5c.11504T>C (p.Leu3835Ser)
c.11459T>C (p.Leu3820Ser)
c.11612T>C (p.Leu3871Ser)
c.10517T>C (p.Leu3506Ser)
c.11368T>C (p.Trp3790Arg)
c.6701T>C (p.Leu2234Ser)
c.6254T>C (p.Leu2085Ser)
c.5591T>C (p.Leu1864Ser)
c.10106T>C (p.Leu3369Ser)
5g.13735884A>TCA359224924DNAH5c.11504T>A (p.Leu3835Ter)
c.11459T>A (p.Leu3820Ter)
c.11612T>A (p.Leu3871Ter)
c.10517T>A (p.Leu3506Ter)
c.11368T>A (p.Trp3790Arg)
c.6701T>A (p.Leu2234Ter)
c.6254T>A (p.Leu2085Ter)
c.5591T>A (p.Leu1864Ter)
c.10106T>A (p.Leu3369Ter)
5g.13735885A>CCA359224925DNAH5c.11503T>G (p.Leu3835Val)
c.11458T>G (p.Leu3820Val)
c.11611T>G (p.Leu3871Val)
c.10516T>G (p.Leu3506Val)
c.11367T>G (p.Ala3789=)
c.6700T>G (p.Leu2234Val)
c.6253T>G (p.Leu2085Val)
c.5590T>G (p.Leu1864Val)
c.10105T>G (p.Leu3369Val)
5g.13735885A>GCA443260323DNAH5c.11503T>C (p.Leu3835=)
c.11458T>C (p.Leu3820=)
c.11611T>C (p.Leu3871=)
c.10516T>C (p.Leu3506=)
c.11367T>C (p.Ala3789=)
c.6700T>C (p.Leu2234=)
c.6253T>C (p.Leu2085=)
c.5590T>C (p.Leu1864=)
c.10105T>C (p.Leu3369=)
5g.13735885A>TCA359224926DNAH5c.11503T>A (p.Leu3835Met)
c.11458T>A (p.Leu3820Met)
c.11611T>A (p.Leu3871Met)
c.10516T>A (p.Leu3506Met)
c.11367T>A (p.Ala3789=)
c.6700T>A (p.Leu2234Met)
c.6253T>A (p.Leu2085Met)
c.5590T>A (p.Leu1864Met)
c.10105T>A (p.Leu3369Met)
5g.13735886G>ACA443260325DNAH5c.11502C>T (p.Arg3834=)
c.11457C>T (p.Arg3819=)
c.11610C>T (p.Arg3870=)
c.10515C>T (p.Arg3505=)
c.11366C>T (p.Ala3789Val)
c.6699C>T (p.Arg2233=)
c.6252C>T (p.Arg2084=)
c.5589C>T (p.Arg1863=)
c.10104C>T (p.Arg3368=)
5g.13735886G>CCA443260326DNAH5c.11502C>G (p.Arg3834=)
c.11457C>G (p.Arg3819=)
c.11610C>G (p.Arg3870=)
c.10515C>G (p.Arg3505=)
c.11366C>G (p.Ala3789Gly)
c.6699C>G (p.Arg2233=)
c.6252C>G (p.Arg2084=)
c.5589C>G (p.Arg1863=)
c.10104C>G (p.Arg3368=)
5g.13735886G>TCA443260324DNAH5c.11502C>A (p.Arg3834=)
c.11457C>A (p.Arg3819=)
c.11610C>A (p.Arg3870=)
c.10515C>A (p.Arg3505=)
c.11366C>A (p.Ala3789Asp)
c.6699C>A (p.Arg2233=)
c.6252C>A (p.Arg2084=)
c.5589C>A (p.Arg1863=)
c.10104C>A (p.Arg3368=)
5g.13735887C>ACA359224927DNAH5c.11501G>T (p.Arg3834Leu)
c.11456G>T (p.Arg3819Leu)
c.11609G>T (p.Arg3870Leu)
c.10514G>T (p.Arg3505Leu)
c.11365G>T (p.Ala3789Ser)
c.6698G>T (p.Arg2233Leu)
c.6251G>T (p.Arg2084Leu)
c.5588G>T (p.Arg1863Leu)
c.10103G>T (p.Arg3368Leu)
5g.13735887C=CA1528415124DNAH5c.11501G= (p.Arg3834=)
c.11456G= (p.Arg3819=)
c.11609G= (p.Arg3870=)
c.10514G= (p.Arg3505=)
c.11365G= (p.Ala3789=)
c.6698G= (p.Arg2233=)
c.6251G= (p.Arg2084=)
c.5588G= (p.Arg1863=)
c.10103G= (p.Arg3368=)
5g.13735887C>GCA359224934DNAH5c.11501G>C (p.Arg3834Pro)
c.11456G>C (p.Arg3819Pro)
c.11609G>C (p.Arg3870Pro)
c.10514G>C (p.Arg3505Pro)
c.11365G>C (p.Ala3789Pro)
c.6698G>C (p.Arg2233Pro)
c.6251G>C (p.Arg2084Pro)
c.5588G>C (p.Arg1863Pro)
c.10103G>C (p.Arg3368Pro)
 gnomAD v4
5g.13735887C>TCA3201938DNAH5c.11501G>A (p.Arg3834His)
c.11456G>A (p.Arg3819His)
c.11609G>A (p.Arg3870His)
c.10514G>A (p.Arg3505His)
c.11365G>A (p.Ala3789Thr)
c.6698G>A (p.Arg2233His)
c.6251G>A (p.Arg2084His)
c.5588G>A (p.Arg1863His)
c.10103G>A (p.Arg3368His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735888G>ACA359224935DNAH5c.11500C>T (p.Arg3834Cys)
c.11455C>T (p.Arg3819Cys)
c.11608C>T (p.Arg3870Cys)
c.10513C>T (p.Arg3505Cys)
c.11364C>T (p.Cys3788=)
c.6697C>T (p.Arg2233Cys)
c.6250C>T (p.Arg2084Cys)
c.5587C>T (p.Arg1863Cys)
c.10102C>T (p.Arg3368Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13735888G>CCA359224936DNAH5c.11500C>G (p.Arg3834Gly)
c.11455C>G (p.Arg3819Gly)
c.11608C>G (p.Arg3870Gly)
c.10513C>G (p.Arg3505Gly)
c.11364C>G (p.Cys3788Trp)
c.6697C>G (p.Arg2233Gly)
c.6250C>G (p.Arg2084Gly)
c.5587C>G (p.Arg1863Gly)
c.10102C>G (p.Arg3368Gly)
 gnomAD v4
5g.13735888G=CA1528415125DNAH5c.11500C= (p.Arg3834=)
c.11455C= (p.Arg3819=)
c.11608C= (p.Arg3870=)
c.10513C= (p.Arg3505=)
c.11364C= (p.Cys3788=)
c.6697C= (p.Arg2233=)
c.6250C= (p.Arg2084=)
c.5587C= (p.Arg1863=)
c.10102C= (p.Arg3368=)
5g.13735888G>TCA359224944DNAH5c.11500C>A (p.Arg3834Ser)
c.11455C>A (p.Arg3819Ser)
c.11608C>A (p.Arg3870Ser)
c.10513C>A (p.Arg3505Ser)
c.11364C>A (p.Cys3788Ter)
c.6697C>A (p.Arg2233Ser)
c.6250C>A (p.Arg2084Ser)
c.5587C>A (p.Arg1863Ser)
c.10102C>A (p.Arg3368Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.13735889C>ACA359224947DNAH5c.11499G>T (p.Met3833Ile)
c.11454G>T (p.Met3818Ile)
c.11607G>T (p.Met3869Ile)
c.10512G>T (p.Met3504Ile)
c.11363G>T (p.Cys3788Phe)
c.6696G>T (p.Met2232Ile)
c.6249G>T (p.Met2083Ile)
c.5586G>T (p.Met1862Ile)
c.10101G>T (p.Met3367Ile)
5g.13735889C=CA1528415126DNAH5c.11499G= (p.Met3833=)
c.11454G= (p.Met3818=)
c.11607G= (p.Met3869=)
c.10512G= (p.Met3504=)
c.11363G= (p.Cys3788=)
c.6696G= (p.Met2232=)
c.6249G= (p.Met2083=)
c.5586G= (p.Met1862=)
c.10101G= (p.Met3367=)
5g.13735889C>GCA359224955DNAH5c.11499G>C (p.Met3833Ile)
c.11454G>C (p.Met3818Ile)
c.11607G>C (p.Met3869Ile)
c.10512G>C (p.Met3504Ile)
c.11363G>C (p.Cys3788Ser)
c.6696G>C (p.Met2232Ile)
c.6249G>C (p.Met2083Ile)
c.5586G>C (p.Met1862Ile)
c.10101G>C (p.Met3367Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.13735889C>TCA3201939DNAH5c.11499G>A (p.Met3833Ile)
c.11454G>A (p.Met3818Ile)
c.11607G>A (p.Met3869Ile)
c.10512G>A (p.Met3504Ile)
c.11363G>A (p.Cys3788Tyr)
c.6696G>A (p.Met2232Ile)
c.6249G>A (p.Met2083Ile)
c.5586G>A (p.Met1862Ile)
c.10101G>A (p.Met3367Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735890A>CCA359224971DNAH5c.11498T>G (p.Met3833Arg)
c.11453T>G (p.Met3818Arg)
c.11606T>G (p.Met3869Arg)
c.10511T>G (p.Met3504Arg)
c.11362T>G (p.Cys3788Gly)
c.6695T>G (p.Met2232Arg)
c.6248T>G (p.Met2083Arg)
c.5585T>G (p.Met1862Arg)
c.10100T>G (p.Met3367Arg)
5g.13735890A>GCA359224973DNAH5c.11498T>C (p.Met3833Thr)
c.11453T>C (p.Met3818Thr)
c.11606T>C (p.Met3869Thr)
c.10511T>C (p.Met3504Thr)
c.11362T>C (p.Cys3788Arg)
c.6695T>C (p.Met2232Thr)
c.6248T>C (p.Met2083Thr)
c.5585T>C (p.Met1862Thr)
c.10100T>C (p.Met3367Thr)
 gnomAD v4
5g.13735890A>TCA359224974DNAH5c.11498T>A (p.Met3833Lys)
c.11453T>A (p.Met3818Lys)
c.11606T>A (p.Met3869Lys)
c.10511T>A (p.Met3504Lys)
c.11362T>A (p.Cys3788Ser)
c.6695T>A (p.Met2232Lys)
c.6248T>A (p.Met2083Lys)
c.5585T>A (p.Met1862Lys)
c.10100T>A (p.Met3367Lys)
5g.13735891T>ACA3201940DNAH5c.11497A>T (p.Met3833Leu)
c.11452A>T (p.Met3818Leu)
c.11605A>T (p.Met3869Leu)
c.10510A>T (p.Met3504Leu)
c.11361A>T (p.Arg3787Ser)
c.6694A>T (p.Met2232Leu)
c.6247A>T (p.Met2083Leu)
c.5584A>T (p.Met1862Leu)
c.10099A>T (p.Met3367Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735891T>CCA359224976DNAH5c.11497A>G (p.Met3833Val)
c.11452A>G (p.Met3818Val)
c.11605A>G (p.Met3869Val)
c.10510A>G (p.Met3504Val)
c.11361A>G (p.Arg3787=)
c.6694A>G (p.Met2232Val)
c.6247A>G (p.Met2083Val)
c.5584A>G (p.Met1862Val)
c.10099A>G (p.Met3367Val)
5g.13735891T>GCA359224978DNAH5c.11497A>C (p.Met3833Leu)
c.11452A>C (p.Met3818Leu)
c.11605A>C (p.Met3869Leu)
c.10510A>C (p.Met3504Leu)
c.11361A>C (p.Arg3787Ser)
c.6694A>C (p.Met2232Leu)
c.6247A>C (p.Met2083Leu)
c.5584A>C (p.Met1862Leu)
c.10099A>C (p.Met3367Leu)
5g.13735891T=CA1528415127DNAH5c.11497A= (p.Met3833=)
c.11452A= (p.Met3818=)
c.11605A= (p.Met3869=)
c.10510A= (p.Met3504=)
c.11361A= (p.Arg3787=)
c.6694A= (p.Met2232=)
c.6247A= (p.Met2083=)
c.5584A= (p.Met1862=)
c.10099A= (p.Met3367=)
5g.13735893_13735894delCA2580613517DNAH5c.11496_11497del (p.Glu3832AspfsTer5)
c.11451_11452del (p.Glu3817AspfsTer5)
c.11604_11605del (p.Glu3868AspfsTer5)
c.10509_10510del (p.Glu3503AspfsTer5)
c.11360_11361del (p.Arg3787MetfsTer?)
c.6693_6694del (p.Glu2231AspfsTer5)
c.6246_6247del (p.Glu2082AspfsTer5)
c.5583_5584del (p.Glu1861AspfsTer5)
c.10098_10099del (p.Glu3366AspfsTer5)
 ClinVar
5g.13735892C>ACA359224984DNAH5c.11496G>T (p.Glu3832Asp)
c.11451G>T (p.Glu3817Asp)
c.11604G>T (p.Glu3868Asp)
c.10509G>T (p.Glu3503Asp)
c.11360G>T (p.Arg3787Ile)
c.6693G>T (p.Glu2231Asp)
c.6246G>T (p.Glu2082Asp)
c.5583G>T (p.Glu1861Asp)
c.10098G>T (p.Glu3366Asp)
5g.13735892C>GCA359224982DNAH5c.11496G>C (p.Glu3832Asp)
c.11451G>C (p.Glu3817Asp)
c.11604G>C (p.Glu3868Asp)
c.10509G>C (p.Glu3503Asp)
c.11360G>C (p.Arg3787Thr)
c.6693G>C (p.Glu2231Asp)
c.6246G>C (p.Glu2082Asp)
c.5583G>C (p.Glu1861Asp)
c.10098G>C (p.Glu3366Asp)
5g.13735892C>TCA443260331DNAH5c.11496G>A (p.Glu3832=)
c.11451G>A (p.Glu3817=)
c.11604G>A (p.Glu3868=)
c.10509G>A (p.Glu3503=)
c.11360G>A (p.Arg3787Lys)
c.6693G>A (p.Glu2231=)
c.6246G>A (p.Glu2082=)
c.5583G>A (p.Glu1861=)
c.10098G>A (p.Glu3366=)
5g.13735893T>ACA359224990DNAH5c.11495A>T (p.Glu3832Val)
c.11450A>T (p.Glu3817Val)
c.11603A>T (p.Glu3868Val)
c.10508A>T (p.Glu3503Val)
c.11359A>T (p.Arg3787Ter)
c.6692A>T (p.Glu2231Val)
c.6245A>T (p.Glu2082Val)
c.5582A>T (p.Glu1861Val)
c.10097A>T (p.Glu3366Val)
5g.13735893T>CCA359224993DNAH5c.11495A>G (p.Glu3832Gly)
c.11450A>G (p.Glu3817Gly)
c.11603A>G (p.Glu3868Gly)
c.10508A>G (p.Glu3503Gly)
c.11359A>G (p.Arg3787Gly)
c.6692A>G (p.Glu2231Gly)
c.6245A>G (p.Glu2082Gly)
c.5582A>G (p.Glu1861Gly)
c.10097A>G (p.Glu3366Gly)
5g.13735893T>GCA359224995DNAH5c.11495A>C (p.Glu3832Ala)
c.11450A>C (p.Glu3817Ala)
c.11603A>C (p.Glu3868Ala)
c.10508A>C (p.Glu3503Ala)
c.11359A>C (p.Arg3787=)
c.6692A>C (p.Glu2231Ala)
c.6245A>C (p.Glu2082Ala)
c.5582A>C (p.Glu1861Ala)
c.10097A>C (p.Glu3366Ala)
5g.13735894C>ACA359224998DNAH5c.11494G>T (p.Glu3832Ter)
c.11449G>T (p.Glu3817Ter)
c.11602G>T (p.Glu3868Ter)
c.10507G>T (p.Glu3503Ter)
c.11358G>T (p.Leu3786=)
c.6691G>T (p.Glu2231Ter)
c.6244G>T (p.Glu2082Ter)
c.5581G>T (p.Glu1861Ter)
c.10096G>T (p.Glu3366Ter)
5g.13735894C>GCA359225001DNAH5c.11494G>C (p.Glu3832Gln)
c.11449G>C (p.Glu3817Gln)
c.11602G>C (p.Glu3868Gln)
c.10507G>C (p.Glu3503Gln)
c.11358G>C (p.Leu3786=)
c.6691G>C (p.Glu2231Gln)
c.6244G>C (p.Glu2082Gln)
c.5581G>C (p.Glu1861Gln)
c.10096G>C (p.Glu3366Gln)
5g.13735894C>TCA359225003DNAH5c.11494G>A (p.Glu3832Lys)
c.11449G>A (p.Glu3817Lys)
c.11602G>A (p.Glu3868Lys)
c.10507G>A (p.Glu3503Lys)
c.11358G>A (p.Leu3786=)
c.6691G>A (p.Glu2231Lys)
c.6244G>A (p.Glu2082Lys)
c.5581G>A (p.Glu1861Lys)
c.10096G>A (p.Glu3366Lys)
 COSMIC
5g.13735895A=CA1528415128DNAH5c.11493T= (p.Thr3831=)
c.11448T= (p.Thr3816=)
c.11601T= (p.Thr3867=)
c.10506T= (p.Thr3502=)
c.11357T= (p.Leu3786=)
c.6690T= (p.Thr2230=)
c.6243T= (p.Thr2081=)
c.5580T= (p.Thr1860=)
c.10095T= (p.Thr3365=)
5g.13735895A>CCA443260332DNAH5c.11493T>G (p.Thr3831=)
c.11448T>G (p.Thr3816=)
c.11601T>G (p.Thr3867=)
c.10506T>G (p.Thr3502=)
c.11357T>G (p.Leu3786Arg)
c.6690T>G (p.Thr2230=)
c.6243T>G (p.Thr2081=)
c.5580T>G (p.Thr1860=)
c.10095T>G (p.Thr3365=)
 gnomAD v4
5g.13735895A>GCA443260333DNAH5c.11493T>C (p.Thr3831=)
c.11448T>C (p.Thr3816=)
c.11601T>C (p.Thr3867=)
c.10506T>C (p.Thr3502=)
c.11357T>C (p.Leu3786Pro)
c.6690T>C (p.Thr2230=)
c.6243T>C (p.Thr2081=)
c.5580T>C (p.Thr1860=)
c.10095T>C (p.Thr3365=)
 dbSNP
5g.13735895A>TCA443260334DNAH5c.11493T>A (p.Thr3831=)
c.11448T>A (p.Thr3816=)
c.11601T>A (p.Thr3867=)
c.10506T>A (p.Thr3502=)
c.11357T>A (p.Leu3786Gln)
c.6690T>A (p.Thr2230=)
c.6243T>A (p.Thr2081=)
c.5580T>A (p.Thr1860=)
c.10095T>A (p.Thr3365=)
5g.13735896G>ACA359225008DNAH5c.11492C>T (p.Thr3831Ile)
c.11447C>T (p.Thr3816Ile)
c.11600C>T (p.Thr3867Ile)
c.10505C>T (p.Thr3502Ile)
c.11356C>T (p.Leu3786=)
c.6689C>T (p.Thr2230Ile)
c.6242C>T (p.Thr2081Ile)
c.5579C>T (p.Thr1860Ile)
c.10094C>T (p.Thr3365Ile)
 gnomAD v4
5g.13735896G>CCA3201941DNAH5c.11492C>G (p.Thr3831Ser)
c.11447C>G (p.Thr3816Ser)
c.11600C>G (p.Thr3867Ser)
c.10505C>G (p.Thr3502Ser)
c.11356C>G (p.Leu3786Val)
c.6689C>G (p.Thr2230Ser)
c.6242C>G (p.Thr2081Ser)
c.5579C>G (p.Thr1860Ser)
c.10094C>G (p.Thr3365Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735896G=CA1528415129DNAH5c.11492C= (p.Thr3831=)
c.11447C= (p.Thr3816=)
c.11600C= (p.Thr3867=)
c.10505C= (p.Thr3502=)
c.11356C= (p.Leu3786=)
c.6689C= (p.Thr2230=)
c.6242C= (p.Thr2081=)
c.5579C= (p.Thr1860=)
c.10094C= (p.Thr3365=)
5g.13735896G>TCA359225011DNAH5c.11492C>A (p.Thr3831Asn)
c.11447C>A (p.Thr3816Asn)
c.11600C>A (p.Thr3867Asn)
c.10505C>A (p.Thr3502Asn)
c.11356C>A (p.Leu3786Met)
c.6689C>A (p.Thr2230Asn)
c.6242C>A (p.Thr2081Asn)
c.5579C>A (p.Thr1860Asn)
c.10094C>A (p.Thr3365Asn)
5g.13735897T>ACA359225024DNAH5c.11491A>T (p.Thr3831Ser)
c.11446A>T (p.Thr3816Ser)
c.11599A>T (p.Thr3867Ser)
c.10504A>T (p.Thr3502Ser)
c.11355A>T (p.Leu3785Phe)
c.6688A>T (p.Thr2230Ser)
c.6241A>T (p.Thr2081Ser)
c.5578A>T (p.Thr1860Ser)
c.10093A>T (p.Thr3365Ser)
5g.13735897T>CCA359225026DNAH5c.11491A>G (p.Thr3831Ala)
c.11446A>G (p.Thr3816Ala)
c.11599A>G (p.Thr3867Ala)
c.10504A>G (p.Thr3502Ala)
c.11355A>G (p.Leu3785=)
c.6688A>G (p.Thr2230Ala)
c.6241A>G (p.Thr2081Ala)
c.5578A>G (p.Thr1860Ala)
c.10093A>G (p.Thr3365Ala)
5g.13735897T>GCA359225029DNAH5c.11491A>C (p.Thr3831Pro)
c.11446A>C (p.Thr3816Pro)
c.11599A>C (p.Thr3867Pro)
c.10504A>C (p.Thr3502Pro)
c.11355A>C (p.Leu3785Phe)
c.6688A>C (p.Thr2230Pro)
c.6241A>C (p.Thr2081Pro)
c.5578A>C (p.Thr1860Pro)
c.10093A>C (p.Thr3365Pro)
5g.13735898A>CCA359225037DNAH5c.11490T>G (p.Ile3830Met)
c.11445T>G (p.Ile3815Met)
c.11598T>G (p.Ile3866Met)
c.10503T>G (p.Ile3501Met)
c.11354T>G (p.Leu3785Ter)
c.6687T>G (p.Ile2229Met)
c.6240T>G (p.Ile2080Met)
c.5577T>G (p.Ile1859Met)
c.10092T>G (p.Ile3364Met)
5g.13735898A>GCA443260336DNAH5c.11490T>C (p.Ile3830=)
c.11445T>C (p.Ile3815=)
c.11598T>C (p.Ile3866=)
c.10503T>C (p.Ile3501=)
c.11354T>C (p.Leu3785Ser)
c.6687T>C (p.Ile2229=)
c.6240T>C (p.Ile2080=)
c.5577T>C (p.Ile1859=)
c.10092T>C (p.Ile3364=)
5g.13735898A>TCA443260337DNAH5c.11490T>A (p.Ile3830=)
c.11445T>A (p.Ile3815=)
c.11598T>A (p.Ile3866=)
c.10503T>A (p.Ile3501=)
c.11354T>A (p.Leu3785Ter)
c.6687T>A (p.Ile2229=)
c.6240T>A (p.Ile2080=)
c.5577T>A (p.Ile1859=)
c.10092T>A (p.Ile3364=)
5g.13735899A>CCA359225047DNAH5c.11489T>G (p.Ile3830Ser)
c.11444T>G (p.Ile3815Ser)
c.11597T>G (p.Ile3866Ser)
c.10502T>G (p.Ile3501Ser)
c.11353T>G (p.Leu3785Val)
c.6686T>G (p.Ile2229Ser)
c.6239T>G (p.Ile2080Ser)
c.5576T>G (p.Ile1859Ser)
c.10091T>G (p.Ile3364Ser)
5g.13735899A>GCA359225043DNAH5c.11489T>C (p.Ile3830Thr)
c.11444T>C (p.Ile3815Thr)
c.11597T>C (p.Ile3866Thr)
c.10502T>C (p.Ile3501Thr)
c.11353T>C (p.Leu3785=)
c.6686T>C (p.Ile2229Thr)
c.6239T>C (p.Ile2080Thr)
c.5576T>C (p.Ile1859Thr)
c.10091T>C (p.Ile3364Thr)
5g.13735899A>TCA359225041DNAH5c.11489T>A (p.Ile3830Asn)
c.11444T>A (p.Ile3815Asn)
c.11597T>A (p.Ile3866Asn)
c.10502T>A (p.Ile3501Asn)
c.11353T>A (p.Leu3785Ile)
c.6686T>A (p.Ile2229Asn)
c.6239T>A (p.Ile2080Asn)
c.5576T>A (p.Ile1859Asn)
c.10091T>A (p.Ile3364Asn)
5g.13735900T>ACA359225057DNAH5c.11488A>T (p.Ile3830Phe)
c.11443A>T (p.Ile3815Phe)
c.11596A>T (p.Ile3866Phe)
c.10501A>T (p.Ile3501Phe)
c.11352A>T (p.Ser3784=)
c.6685A>T (p.Ile2229Phe)
c.6238A>T (p.Ile2080Phe)
c.5575A>T (p.Ile1859Phe)
c.10090A>T (p.Ile3364Phe)
5g.13735900T>CCA359225065DNAH5c.11488A>G (p.Ile3830Val)
c.11443A>G (p.Ile3815Val)
c.11596A>G (p.Ile3866Val)
c.10501A>G (p.Ile3501Val)
c.11352A>G (p.Ser3784=)
c.6685A>G (p.Ile2229Val)
c.6238A>G (p.Ile2080Val)
c.5575A>G (p.Ile1859Val)
c.10090A>G (p.Ile3364Val)
 dbSNP
5g.13735900T>GCA359225069DNAH5c.11488A>C (p.Ile3830Leu)
c.11443A>C (p.Ile3815Leu)
c.11596A>C (p.Ile3866Leu)
c.10501A>C (p.Ile3501Leu)
c.11352A>C (p.Ser3784=)
c.6685A>C (p.Ile2229Leu)
c.6238A>C (p.Ile2080Leu)
c.5575A>C (p.Ile1859Leu)
c.10090A>C (p.Ile3364Leu)
 dbSNP gnomAD v4
5g.13735900T=CA1528415130DNAH5c.11488A= (p.Ile3830=)
c.11443A= (p.Ile3815=)
c.11596A= (p.Ile3866=)
c.10501A= (p.Ile3501=)
c.11352A= (p.Ser3784=)
c.6685A= (p.Ile2229=)
c.6238A= (p.Ile2080=)
c.5575A= (p.Ile1859=)
c.10090A= (p.Ile3364=)
5g.13735901G>ACA443260338DNAH5c.11487C>T (p.Leu3829=)
c.11442C>T (p.Leu3814=)
c.11595C>T (p.Leu3865=)
c.10500C>T (p.Leu3500=)
c.11351C>T (p.Ser3784Leu)
c.6684C>T (p.Leu2228=)
c.6237C>T (p.Leu2079=)
c.5574C>T (p.Leu1858=)
c.10089C>T (p.Leu3363=)
 gnomAD v4
5g.13735901G>CCA443260339DNAH5c.11487C>G (p.Leu3829=)
c.11442C>G (p.Leu3814=)
c.11595C>G (p.Leu3865=)
c.10500C>G (p.Leu3500=)
c.11351C>G (p.Ser3784Ter)
c.6684C>G (p.Leu2228=)
c.6237C>G (p.Leu2079=)
c.5574C>G (p.Leu1858=)
c.10089C>G (p.Leu3363=)
 ClinVar gnomAD v4
5g.13735901G>TCA443260340DNAH5c.11487C>A (p.Leu3829=)
c.11442C>A (p.Leu3814=)
c.11595C>A (p.Leu3865=)
c.10500C>A (p.Leu3500=)
c.11351C>A (p.Ser3784Ter)
c.6684C>A (p.Leu2228=)
c.6237C>A (p.Leu2079=)
c.5574C>A (p.Leu1858=)
c.10089C>A (p.Leu3363=)
5g.13735902A>CCA359225072DNAH5c.11486T>G (p.Leu3829Arg)
c.11441T>G (p.Leu3814Arg)
c.11594T>G (p.Leu3865Arg)
c.10499T>G (p.Leu3500Arg)
c.11350T>G (p.Ser3784Ala)
c.6683T>G (p.Leu2228Arg)
c.6236T>G (p.Leu2079Arg)
c.5573T>G (p.Leu1858Arg)
c.10088T>G (p.Leu3363Arg)
5g.13735902A>GCA359225075DNAH5c.11486T>C (p.Leu3829Pro)
c.11441T>C (p.Leu3814Pro)
c.11594T>C (p.Leu3865Pro)
c.10499T>C (p.Leu3500Pro)
c.11350T>C (p.Ser3784Pro)
c.6683T>C (p.Leu2228Pro)
c.6236T>C (p.Leu2079Pro)
c.5573T>C (p.Leu1858Pro)
c.10088T>C (p.Leu3363Pro)
5g.13735902A>TCA359225078DNAH5c.11486T>A (p.Leu3829His)
c.11441T>A (p.Leu3814His)
c.11594T>A (p.Leu3865His)
c.10499T>A (p.Leu3500His)
c.11350T>A (p.Ser3784Thr)
c.6683T>A (p.Leu2228His)
c.6236T>A (p.Leu2079His)
c.5573T>A (p.Leu1858His)
c.10088T>A (p.Leu3363His)
5g.13735903G>ACA359225097DNAH5c.11485C>T (p.Leu3829Phe)
c.11440C>T (p.Leu3814Phe)
c.11593C>T (p.Leu3865Phe)
c.10498C>T (p.Leu3500Phe)
c.11349C>T (p.Ser3783=)
c.6682C>T (p.Leu2228Phe)
c.6235C>T (p.Leu2079Phe)
c.5572C>T (p.Leu1858Phe)
c.10087C>T (p.Leu3363Phe)
5g.13735903G>CCA359225079DNAH5c.11485C>G (p.Leu3829Val)
c.11440C>G (p.Leu3814Val)
c.11593C>G (p.Leu3865Val)
c.10498C>G (p.Leu3500Val)
c.11349C>G (p.Ser3783=)
c.6682C>G (p.Leu2228Val)
c.6235C>G (p.Leu2079Val)
c.5572C>G (p.Leu1858Val)
c.10087C>G (p.Leu3363Val)
5g.13735903G>TCA359225082DNAH5c.11485C>A (p.Leu3829Ile)
c.11440C>A (p.Leu3814Ile)
c.11593C>A (p.Leu3865Ile)
c.10498C>A (p.Leu3500Ile)
c.11349C>A (p.Ser3783=)
c.6682C>A (p.Leu2228Ile)
c.6235C>A (p.Leu2079Ile)
c.5572C>A (p.Leu1858Ile)
c.10087C>A (p.Leu3363Ile)
5g.13735904G>ACA443260344DNAH5c.11484C>T (p.Phe3828=)
c.11439C>T (p.Phe3813=)
c.11592C>T (p.Phe3864=)
c.10497C>T (p.Phe3499=)
c.11348C>T (p.Ser3783Phe)
c.6681C>T (p.Phe2227=)
c.6234C>T (p.Phe2078=)
c.5571C>T (p.Phe1857=)
c.10086C>T (p.Phe3362=)
5g.13735904G>CCA359225100DNAH5c.11484C>G (p.Phe3828Leu)
c.11439C>G (p.Phe3813Leu)
c.11592C>G (p.Phe3864Leu)
c.10497C>G (p.Phe3499Leu)
c.11348C>G (p.Ser3783Cys)
c.6681C>G (p.Phe2227Leu)
c.6234C>G (p.Phe2078Leu)
c.5571C>G (p.Phe1857Leu)
c.10086C>G (p.Phe3362Leu)
5g.13735904G>TCA359225103DNAH5c.11484C>A (p.Phe3828Leu)
c.11439C>A (p.Phe3813Leu)
c.11592C>A (p.Phe3864Leu)
c.10497C>A (p.Phe3499Leu)
c.11348C>A (p.Ser3783Tyr)
c.6681C>A (p.Phe2227Leu)
c.6234C>A (p.Phe2078Leu)
c.5571C>A (p.Phe1857Leu)
c.10086C>A (p.Phe3362Leu)
5g.13735905A>CCA359225107DNAH5c.11483T>G (p.Phe3828Cys)
c.11438T>G (p.Phe3813Cys)
c.11591T>G (p.Phe3864Cys)
c.10496T>G (p.Phe3499Cys)
c.11347T>G (p.Ser3783Ala)
c.6680T>G (p.Phe2227Cys)
c.6233T>G (p.Phe2078Cys)
c.5570T>G (p.Phe1857Cys)
c.10085T>G (p.Phe3362Cys)
5g.13735905A>GCA359225122DNAH5c.11483T>C (p.Phe3828Ser)
c.11438T>C (p.Phe3813Ser)
c.11591T>C (p.Phe3864Ser)
c.10496T>C (p.Phe3499Ser)
c.11347T>C (p.Ser3783Pro)
c.6680T>C (p.Phe2227Ser)
c.6233T>C (p.Phe2078Ser)
c.5570T>C (p.Phe1857Ser)
c.10085T>C (p.Phe3362Ser)
5g.13735905A>TCA359225135DNAH5c.11483T>A (p.Phe3828Tyr)
c.11438T>A (p.Phe3813Tyr)
c.11591T>A (p.Phe3864Tyr)
c.10496T>A (p.Phe3499Tyr)
c.11347T>A (p.Ser3783Thr)
c.6680T>A (p.Phe2227Tyr)
c.6233T>A (p.Phe2078Tyr)
c.5570T>A (p.Phe1857Tyr)
c.10085T>A (p.Phe3362Tyr)
5g.13735906A>CCA359225152DNAH5c.11482T>G (p.Phe3828Val)
c.11437T>G (p.Phe3813Val)
c.11590T>G (p.Phe3864Val)
c.10495T>G (p.Phe3499Val)
c.11346T>G (p.Thr3782=)
c.6679T>G (p.Phe2227Val)
c.6232T>G (p.Phe2078Val)
c.5569T>G (p.Phe1857Val)
c.10084T>G (p.Phe3362Val)
5g.13735906A>GCA359225141DNAH5c.11482T>C (p.Phe3828Leu)
c.11437T>C (p.Phe3813Leu)
c.11590T>C (p.Phe3864Leu)
c.10495T>C (p.Phe3499Leu)
c.11346T>C (p.Thr3782=)
c.6679T>C (p.Phe2227Leu)
c.6232T>C (p.Phe2078Leu)
c.5569T>C (p.Phe1857Leu)
c.10084T>C (p.Phe3362Leu)
5g.13735906A>TCA359225145DNAH5c.11482T>A (p.Phe3828Ile)
c.11437T>A (p.Phe3813Ile)
c.11590T>A (p.Phe3864Ile)
c.10495T>A (p.Phe3499Ile)
c.11346T>A (p.Thr3782=)
c.6679T>A (p.Phe2227Ile)
c.6232T>A (p.Phe2078Ile)
c.5569T>A (p.Phe1857Ile)
c.10084T>A (p.Phe3362Ile)
5g.13735907G>ACA443260349DNAH5c.11481C>T (p.Tyr3827=)
c.11436C>T (p.Tyr3812=)
c.11589C>T (p.Tyr3863=)
c.10494C>T (p.Tyr3498=)
c.11345C>T (p.Thr3782Ile)
c.6678C>T (p.Tyr2226=)
c.6231C>T (p.Tyr2077=)
c.5568C>T (p.Tyr1856=)
c.10083C>T (p.Tyr3361=)
 ClinVar dbSNP
5g.13735907G>CCA359225158DNAH5c.11481C>G (p.Tyr3827Ter)
c.11436C>G (p.Tyr3812Ter)
c.11589C>G (p.Tyr3863Ter)
c.10494C>G (p.Tyr3498Ter)
c.11345C>G (p.Thr3782Ser)
c.6678C>G (p.Tyr2226Ter)
c.6231C>G (p.Tyr2077Ter)
c.5568C>G (p.Tyr1856Ter)
c.10083C>G (p.Tyr3361Ter)
5g.13735907G>TCA359225160DNAH5c.11481C>A (p.Tyr3827Ter)
c.11436C>A (p.Tyr3812Ter)
c.11589C>A (p.Tyr3863Ter)
c.10494C>A (p.Tyr3498Ter)
c.11345C>A (p.Thr3782Asn)
c.6678C>A (p.Tyr2226Ter)
c.6231C>A (p.Tyr2077Ter)
c.5568C>A (p.Tyr1856Ter)
c.10083C>A (p.Tyr3361Ter)
5g.13735908T>ACA359225166DNAH5c.11480A>T (p.Tyr3827Phe)
c.11435A>T (p.Tyr3812Phe)
c.11588A>T (p.Tyr3863Phe)
c.10493A>T (p.Tyr3498Phe)
c.11344A>T (p.Thr3782Ser)
c.6677A>T (p.Tyr2226Phe)
c.6230A>T (p.Tyr2077Phe)
c.5567A>T (p.Tyr1856Phe)
c.10082A>T (p.Tyr3361Phe)
5g.13735908T>CCA359225167DNAH5c.11480A>G (p.Tyr3827Cys)
c.11435A>G (p.Tyr3812Cys)
c.11588A>G (p.Tyr3863Cys)
c.10493A>G (p.Tyr3498Cys)
c.11344A>G (p.Thr3782Ala)
c.6677A>G (p.Tyr2226Cys)
c.6230A>G (p.Tyr2077Cys)
c.5567A>G (p.Tyr1856Cys)
c.10082A>G (p.Tyr3361Cys)
5g.13735908T>GCA359225171DNAH5c.11480A>C (p.Tyr3827Ser)
c.11435A>C (p.Tyr3812Ser)
c.11588A>C (p.Tyr3863Ser)
c.10493A>C (p.Tyr3498Ser)
c.11344A>C (p.Thr3782Pro)
c.6677A>C (p.Tyr2226Ser)
c.6230A>C (p.Tyr2077Ser)
c.5567A>C (p.Tyr1856Ser)
c.10082A>C (p.Tyr3361Ser)
5g.13735909A>CCA359225172DNAH5c.11479T>G (p.Tyr3827Asp)
c.11434T>G (p.Tyr3812Asp)
c.11587T>G (p.Tyr3863Asp)
c.10492T>G (p.Tyr3498Asp)
c.11343T>G (p.Ser3781=)
c.6676T>G (p.Tyr2226Asp)
c.6229T>G (p.Tyr2077Asp)
c.5566T>G (p.Tyr1856Asp)
c.10081T>G (p.Tyr3361Asp)
5g.13735909A>GCA359225173DNAH5c.11479T>C (p.Tyr3827His)
c.11434T>C (p.Tyr3812His)
c.11587T>C (p.Tyr3863His)
c.10492T>C (p.Tyr3498His)
c.11343T>C (p.Ser3781=)
c.6676T>C (p.Tyr2226His)
c.6229T>C (p.Tyr2077His)
c.5566T>C (p.Tyr1856His)
c.10081T>C (p.Tyr3361His)
5g.13735909A>TCA359225174DNAH5c.11479T>A (p.Tyr3827Asn)
c.11434T>A (p.Tyr3812Asn)
c.11587T>A (p.Tyr3863Asn)
c.10492T>A (p.Tyr3498Asn)
c.11343T>A (p.Ser3781=)
c.6676T>A (p.Tyr2226Asn)
c.6229T>A (p.Tyr2077Asn)
c.5566T>A (p.Tyr1856Asn)
c.10081T>A (p.Tyr3361Asn)
5g.13735910G>ACA3201942DNAH5c.11478C>T (p.Leu3826=)
c.11433C>T (p.Leu3811=)
c.11586C>T (p.Leu3862=)
c.10491C>T (p.Leu3497=)
c.11342C>T (p.Ser3781Phe)
c.6675C>T (p.Leu2225=)
c.6228C>T (p.Leu2076=)
c.5565C>T (p.Leu1855=)
c.10080C>T (p.Leu3360=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735910G>CCA443260350DNAH5c.11478C>G (p.Leu3826=)
c.11433C>G (p.Leu3811=)
c.11586C>G (p.Leu3862=)
c.10491C>G (p.Leu3497=)
c.11342C>G (p.Ser3781Cys)
c.6675C>G (p.Leu2225=)
c.6228C>G (p.Leu2076=)
c.5565C>G (p.Leu1855=)
c.10080C>G (p.Leu3360=)
 ClinVar
5g.13735910G=CA1528415131DNAH5c.11478C= (p.Leu3826=)
c.11433C= (p.Leu3811=)
c.11586C= (p.Leu3862=)
c.10491C= (p.Leu3497=)
c.11342C= (p.Ser3781=)
c.6675C= (p.Leu2225=)
c.6228C= (p.Leu2076=)
c.5565C= (p.Leu1855=)
c.10080C= (p.Leu3360=)
5g.13735910G>TCA443260352DNAH5c.11478C>A (p.Leu3826=)
c.11433C>A (p.Leu3811=)
c.11586C>A (p.Leu3862=)
c.10491C>A (p.Leu3497=)
c.11342C>A (p.Ser3781Tyr)
c.6675C>A (p.Leu2225=)
c.6228C>A (p.Leu2076=)
c.5565C>A (p.Leu1855=)
c.10080C>A (p.Leu3360=)
5g.13735911A>CCA359225184DNAH5c.11477T>G (p.Leu3826Arg)
c.11432T>G (p.Leu3811Arg)
c.11585T>G (p.Leu3862Arg)
c.10490T>G (p.Leu3497Arg)
c.11341T>G (p.Ser3781Ala)
c.6674T>G (p.Leu2225Arg)
c.6227T>G (p.Leu2076Arg)
c.5564T>G (p.Leu1855Arg)
c.10079T>G (p.Leu3360Arg)
5g.13735911A>GCA359225186DNAH5c.11477T>C (p.Leu3826Pro)
c.11432T>C (p.Leu3811Pro)
c.11585T>C (p.Leu3862Pro)
c.10490T>C (p.Leu3497Pro)
c.11341T>C (p.Ser3781Pro)
c.6674T>C (p.Leu2225Pro)
c.6227T>C (p.Leu2076Pro)
c.5564T>C (p.Leu1855Pro)
c.10079T>C (p.Leu3360Pro)
5g.13735911A>TCA359225189DNAH5c.11477T>A (p.Leu3826His)
c.11432T>A (p.Leu3811His)
c.11585T>A (p.Leu3862His)
c.10490T>A (p.Leu3497His)
c.11341T>A (p.Ser3781Thr)
c.6674T>A (p.Leu2225His)
c.6227T>A (p.Leu2076His)
c.5564T>A (p.Leu1855His)
c.10079T>A (p.Leu3360His)
5g.13735912G>ACA3201943DNAH5c.11476C>T (p.Leu3826Phe)
c.11431C>T (p.Leu3811Phe)
c.11584C>T (p.Leu3862Phe)
c.10489C>T (p.Leu3497Phe)
c.11340C>T (p.Ser3780=)
c.6673C>T (p.Leu2225Phe)
c.6226C>T (p.Leu2076Phe)
c.5563C>T (p.Leu1855Phe)
c.10078C>T (p.Leu3360Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735912G>CCA359225197DNAH5c.11476C>G (p.Leu3826Val)
c.11431C>G (p.Leu3811Val)
c.11584C>G (p.Leu3862Val)
c.10489C>G (p.Leu3497Val)
c.11340C>G (p.Ser3780=)
c.6673C>G (p.Leu2225Val)
c.6226C>G (p.Leu2076Val)
c.5563C>G (p.Leu1855Val)
c.10078C>G (p.Leu3360Val)
5g.13735912G=CA1528415132DNAH5c.11476C= (p.Leu3826=)
c.11431C= (p.Leu3811=)
c.11584C= (p.Leu3862=)
c.10489C= (p.Leu3497=)
c.11340C= (p.Ser3780=)
c.6673C= (p.Leu2225=)
c.6226C= (p.Leu2076=)
c.5563C= (p.Leu1855=)
c.10078C= (p.Leu3360=)
5g.13735912G>TCA359225195DNAH5c.11476C>A (p.Leu3826Ile)
c.11431C>A (p.Leu3811Ile)
c.11584C>A (p.Leu3862Ile)
c.10489C>A (p.Leu3497Ile)
c.11340C>A (p.Ser3780=)
c.6673C>A (p.Leu2225Ile)
c.6226C>A (p.Leu2076Ile)
c.5563C>A (p.Leu1855Ile)
c.10078C>A (p.Leu3360Ile)
5g.13735913G>ACA443260353DNAH5c.11475C>T (p.Ile3825=)
c.11430C>T (p.Ile3810=)
c.11583C>T (p.Ile3861=)
c.10488C>T (p.Ile3496=)
c.11339C>T (p.Ser3780Phe)
c.6672C>T (p.Ile2224=)
c.6225C>T (p.Ile2075=)
c.5562C>T (p.Ile1854=)
c.10077C>T (p.Ile3359=)
5g.13735913G>CCA359225204DNAH5c.11475C>G (p.Ile3825Met)
c.11430C>G (p.Ile3810Met)
c.11583C>G (p.Ile3861Met)
c.10488C>G (p.Ile3496Met)
c.11339C>G (p.Ser3780Cys)
c.6672C>G (p.Ile2224Met)
c.6225C>G (p.Ile2075Met)
c.5562C>G (p.Ile1854Met)
c.10077C>G (p.Ile3359Met)
5g.13735913G>TCA443260354DNAH5c.11475C>A (p.Ile3825=)
c.11430C>A (p.Ile3810=)
c.11583C>A (p.Ile3861=)
c.10488C>A (p.Ile3496=)
c.11339C>A (p.Ser3780Tyr)
c.6672C>A (p.Ile2224=)
c.6225C>A (p.Ile2075=)
c.5562C>A (p.Ile1854=)
c.10077C>A (p.Ile3359=)
5g.13735914A>CCA359225209DNAH5c.11474T>G (p.Ile3825Ser)
c.11429T>G (p.Ile3810Ser)
c.11582T>G (p.Ile3861Ser)
c.10487T>G (p.Ile3496Ser)
c.11338T>G (p.Ser3780Ala)
c.6671T>G (p.Ile2224Ser)
c.6224T>G (p.Ile2075Ser)
c.5561T>G (p.Ile1854Ser)
c.10076T>G (p.Ile3359Ser)
5g.13735914A>GCA359225211DNAH5c.11474T>C (p.Ile3825Thr)
c.11429T>C (p.Ile3810Thr)
c.11582T>C (p.Ile3861Thr)
c.10487T>C (p.Ile3496Thr)
c.11338T>C (p.Ser3780Pro)
c.6671T>C (p.Ile2224Thr)
c.6224T>C (p.Ile2075Thr)
c.5561T>C (p.Ile1854Thr)
c.10076T>C (p.Ile3359Thr)
5g.13735914A>TCA359225215DNAH5c.11474T>A (p.Ile3825Asn)
c.11429T>A (p.Ile3810Asn)
c.11582T>A (p.Ile3861Asn)
c.10487T>A (p.Ile3496Asn)
c.11338T>A (p.Ser3780Thr)
c.6671T>A (p.Ile2224Asn)
c.6224T>A (p.Ile2075Asn)
c.5561T>A (p.Ile1854Asn)
c.10076T>A (p.Ile3359Asn)

Number of alleles fetched