Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13753364G>ACA443535559DNAH5c.10741C>T (p.Leu3581=)
c.10696C>T (p.Leu3566=)
c.10849C>T (p.Leu3617=)
c.9754C>T (p.Leu3252=)
c.5938C>T (p.Leu1980=)
c.5491C>T (p.Leu1831=)
c.4828C>T (p.Leu1610=)
c.9343C>T (p.Leu3115=)
5g.13753364G>CCA359191488DNAH5c.10741C>G (p.Leu3581Val)
c.10696C>G (p.Leu3566Val)
c.10849C>G (p.Leu3617Val)
c.9754C>G (p.Leu3252Val)
c.5938C>G (p.Leu1980Val)
c.5491C>G (p.Leu1831Val)
c.4828C>G (p.Leu1610Val)
c.9343C>G (p.Leu3115Val)
5g.13753364G>TCA359191490DNAH5c.10741C>A (p.Leu3581Met)
c.10696C>A (p.Leu3566Met)
c.10849C>A (p.Leu3617Met)
c.9754C>A (p.Leu3252Met)
c.5938C>A (p.Leu1980Met)
c.5491C>A (p.Leu1831Met)
c.4828C>A (p.Leu1610Met)
c.9343C>A (p.Leu3115Met)
5g.13753365A>CCA443535560DNAH5c.10740T>G (p.Gly3580=)
c.10695T>G (p.Gly3565=)
c.10848T>G (p.Gly3616=)
c.9753T>G (p.Gly3251=)
c.5937T>G (p.Gly1979=)
c.5490T>G (p.Gly1830=)
c.4827T>G (p.Gly1609=)
c.9342T>G (p.Gly3114=)
5g.13753365A>GCA443535561DNAH5c.10740T>C (p.Gly3580=)
c.10695T>C (p.Gly3565=)
c.10848T>C (p.Gly3616=)
c.9753T>C (p.Gly3251=)
c.5937T>C (p.Gly1979=)
c.5490T>C (p.Gly1830=)
c.4827T>C (p.Gly1609=)
c.9342T>C (p.Gly3114=)
5g.13753365A>TCA443535562DNAH5c.10740T>A (p.Gly3580=)
c.10695T>A (p.Gly3565=)
c.10848T>A (p.Gly3616=)
c.9753T>A (p.Gly3251=)
c.5937T>A (p.Gly1979=)
c.5490T>A (p.Gly1830=)
c.4827T>A (p.Gly1609=)
c.9342T>A (p.Gly3114=)
 ClinVar dbSNP
5g.13753366C>ACA359191492DNAH5c.10739G>T (p.Gly3580Val)
c.10694G>T (p.Gly3565Val)
c.10847G>T (p.Gly3616Val)
c.9752G>T (p.Gly3251Val)
c.5936G>T (p.Gly1979Val)
c.5489G>T (p.Gly1830Val)
c.4826G>T (p.Gly1609Val)
c.9341G>T (p.Gly3114Val)
5g.13753366C>GCA359191493DNAH5c.10739G>C (p.Gly3580Ala)
c.10694G>C (p.Gly3565Ala)
c.10847G>C (p.Gly3616Ala)
c.9752G>C (p.Gly3251Ala)
c.5936G>C (p.Gly1979Ala)
c.5489G>C (p.Gly1830Ala)
c.4826G>C (p.Gly1609Ala)
c.9341G>C (p.Gly3114Ala)
5g.13753366C>TCA359191495DNAH5c.10739G>A (p.Gly3580Asp)
c.10694G>A (p.Gly3565Asp)
c.10847G>A (p.Gly3616Asp)
c.9752G>A (p.Gly3251Asp)
c.5936G>A (p.Gly1979Asp)
c.5489G>A (p.Gly1830Asp)
c.4826G>A (p.Gly1609Asp)
c.9341G>A (p.Gly3114Asp)
5g.13753367C>ACA359191496DNAH5c.10738G>T (p.Gly3580Cys)
c.10693G>T (p.Gly3565Cys)
c.10846G>T (p.Gly3616Cys)
c.9751G>T (p.Gly3251Cys)
c.5935G>T (p.Gly1979Cys)
c.5488G>T (p.Gly1830Cys)
c.4825G>T (p.Gly1609Cys)
c.9340G>T (p.Gly3114Cys)
5g.13753367C=CA1528423485DNAH5c.10738G= (p.Gly3580=)
c.10693G= (p.Gly3565=)
c.10846G= (p.Gly3616=)
c.9751G= (p.Gly3251=)
c.5935G= (p.Gly1979=)
c.5488G= (p.Gly1830=)
c.4825G= (p.Gly1609=)
c.9340G= (p.Gly3114=)
5g.13753367C>GCA359191498DNAH5c.10738G>C (p.Gly3580Arg)
c.10693G>C (p.Gly3565Arg)
c.10846G>C (p.Gly3616Arg)
c.9751G>C (p.Gly3251Arg)
c.5935G>C (p.Gly1979Arg)
c.5488G>C (p.Gly1830Arg)
c.4825G>C (p.Gly1609Arg)
c.9340G>C (p.Gly3114Arg)
5g.13753367C>TCA10620200DNAH5c.10738G>A (p.Gly3580Ser)
c.10693G>A (p.Gly3565Ser)
c.10846G>A (p.Gly3616Ser)
c.9751G>A (p.Gly3251Ser)
c.5935G>A (p.Gly1979Ser)
c.5488G>A (p.Gly1830Ser)
c.4825G>A (p.Gly1609Ser)
c.9340G>A (p.Gly3114Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753368T>ACA359191500DNAH5c.10737A>T (p.Gln3579His)
c.10692A>T (p.Gln3564His)
c.10845A>T (p.Gln3615His)
c.9750A>T (p.Gln3250His)
c.5934A>T (p.Gln1978His)
c.5487A>T (p.Gln1829His)
c.4824A>T (p.Gln1608His)
c.9339A>T (p.Gln3113His)
5g.13753368T>CCA443535565DNAH5c.10737A>G (p.Gln3579=)
c.10692A>G (p.Gln3564=)
c.10845A>G (p.Gln3615=)
c.9750A>G (p.Gln3250=)
c.5934A>G (p.Gln1978=)
c.5487A>G (p.Gln1829=)
c.4824A>G (p.Gln1608=)
c.9339A>G (p.Gln3113=)
5g.13753368T>GCA359191501DNAH5c.10737A>C (p.Gln3579His)
c.10692A>C (p.Gln3564His)
c.10845A>C (p.Gln3615His)
c.9750A>C (p.Gln3250His)
c.5934A>C (p.Gln1978His)
c.5487A>C (p.Gln1829His)
c.4824A>C (p.Gln1608His)
c.9339A>C (p.Gln3113His)
5g.13753369T>ACA359191502DNAH5c.10736A>T (p.Gln3579Leu)
c.10691A>T (p.Gln3564Leu)
c.10844A>T (p.Gln3615Leu)
c.9749A>T (p.Gln3250Leu)
c.5933A>T (p.Gln1978Leu)
c.5486A>T (p.Gln1829Leu)
c.4823A>T (p.Gln1608Leu)
c.9338A>T (p.Gln3113Leu)
5g.13753369T>CCA359191504DNAH5c.10736A>G (p.Gln3579Arg)
c.10691A>G (p.Gln3564Arg)
c.10844A>G (p.Gln3615Arg)
c.9749A>G (p.Gln3250Arg)
c.5933A>G (p.Gln1978Arg)
c.5486A>G (p.Gln1829Arg)
c.4823A>G (p.Gln1608Arg)
c.9338A>G (p.Gln3113Arg)
5g.13753369T>GCA359191506DNAH5c.10736A>C (p.Gln3579Pro)
c.10691A>C (p.Gln3564Pro)
c.10844A>C (p.Gln3615Pro)
c.9749A>C (p.Gln3250Pro)
c.5933A>C (p.Gln1978Pro)
c.5486A>C (p.Gln1829Pro)
c.4823A>C (p.Gln1608Pro)
c.9338A>C (p.Gln3113Pro)
 gnomAD v4
5g.13753370G>ACA359191512DNAH5c.10735C>T (p.Gln3579Ter)
c.10690C>T (p.Gln3564Ter)
c.10843C>T (p.Gln3615Ter)
c.9748C>T (p.Gln3250Ter)
c.5932C>T (p.Gln1978Ter)
c.5485C>T (p.Gln1829Ter)
c.4822C>T (p.Gln1608Ter)
c.9337C>T (p.Gln3113Ter)
 ClinVar
5g.13753370G>CCA359191514DNAH5c.10735C>G (p.Gln3579Glu)
c.10690C>G (p.Gln3564Glu)
c.10843C>G (p.Gln3615Glu)
c.9748C>G (p.Gln3250Glu)
c.5932C>G (p.Gln1978Glu)
c.5485C>G (p.Gln1829Glu)
c.4822C>G (p.Gln1608Glu)
c.9337C>G (p.Gln3113Glu)
5g.13753370G>TCA359191515DNAH5c.10735C>A (p.Gln3579Lys)
c.10690C>A (p.Gln3564Lys)
c.10843C>A (p.Gln3615Lys)
c.9748C>A (p.Gln3250Lys)
c.5932C>A (p.Gln1978Lys)
c.5485C>A (p.Gln1829Lys)
c.4822C>A (p.Gln1608Lys)
c.9337C>A (p.Gln3113Lys)
5g.13753371G>ACA443535567DNAH5c.10734C>T (p.Leu3578=)
c.10689C>T (p.Leu3563=)
c.10842C>T (p.Leu3614=)
c.9747C>T (p.Leu3249=)
c.5931C>T (p.Leu1977=)
c.5484C>T (p.Leu1828=)
c.4821C>T (p.Leu1607=)
c.9336C>T (p.Leu3112=)
 dbSNP
5g.13753371G>CCA443535569DNAH5c.10734C>G (p.Leu3578=)
c.10689C>G (p.Leu3563=)
c.10842C>G (p.Leu3614=)
c.9747C>G (p.Leu3249=)
c.5931C>G (p.Leu1977=)
c.5484C>G (p.Leu1828=)
c.4821C>G (p.Leu1607=)
c.9336C>G (p.Leu3112=)
5g.13753371G=CA1528423486DNAH5c.10734C= (p.Leu3578=)
c.10689C= (p.Leu3563=)
c.10842C= (p.Leu3614=)
c.9747C= (p.Leu3249=)
c.5931C= (p.Leu1977=)
c.5484C= (p.Leu1828=)
c.4821C= (p.Leu1607=)
c.9336C= (p.Leu3112=)
5g.13753371G>TCA443535568DNAH5c.10734C>A (p.Leu3578=)
c.10689C>A (p.Leu3563=)
c.10842C>A (p.Leu3614=)
c.9747C>A (p.Leu3249=)
c.5931C>A (p.Leu1977=)
c.5484C>A (p.Leu1828=)
c.4821C>A (p.Leu1607=)
c.9336C>A (p.Leu3112=)
5g.13753372A>CCA359191517DNAH5c.10733T>G (p.Leu3578Arg)
c.10688T>G (p.Leu3563Arg)
c.10841T>G (p.Leu3614Arg)
c.9746T>G (p.Leu3249Arg)
c.5930T>G (p.Leu1977Arg)
c.5483T>G (p.Leu1828Arg)
c.4820T>G (p.Leu1607Arg)
c.9335T>G (p.Leu3112Arg)
5g.13753372A>GCA359191519DNAH5c.10733T>C (p.Leu3578Pro)
c.10688T>C (p.Leu3563Pro)
c.10841T>C (p.Leu3614Pro)
c.9746T>C (p.Leu3249Pro)
c.5930T>C (p.Leu1977Pro)
c.5483T>C (p.Leu1828Pro)
c.4820T>C (p.Leu1607Pro)
c.9335T>C (p.Leu3112Pro)
5g.13753372A>TCA359191521DNAH5c.10733T>A (p.Leu3578His)
c.10688T>A (p.Leu3563His)
c.10841T>A (p.Leu3614His)
c.9746T>A (p.Leu3249His)
c.5930T>A (p.Leu1977His)
c.5483T>A (p.Leu1828His)
c.4820T>A (p.Leu1607His)
c.9335T>A (p.Leu3112His)
5g.13753373G>ACA359191525DNAH5c.10732C>T (p.Leu3578Phe)
c.10687C>T (p.Leu3563Phe)
c.10840C>T (p.Leu3614Phe)
c.9745C>T (p.Leu3249Phe)
c.5929C>T (p.Leu1977Phe)
c.5482C>T (p.Leu1828Phe)
c.4819C>T (p.Leu1607Phe)
c.9334C>T (p.Leu3112Phe)
 dbSNP gnomAD v4
5g.13753373G>CCA359191526DNAH5c.10732C>G (p.Leu3578Val)
c.10687C>G (p.Leu3563Val)
c.10840C>G (p.Leu3614Val)
c.9745C>G (p.Leu3249Val)
c.5929C>G (p.Leu1977Val)
c.5482C>G (p.Leu1828Val)
c.4819C>G (p.Leu1607Val)
c.9334C>G (p.Leu3112Val)
5g.13753373G=CA1528423487DNAH5c.10732C= (p.Leu3578=)
c.10687C= (p.Leu3563=)
c.10840C= (p.Leu3614=)
c.9745C= (p.Leu3249=)
c.5929C= (p.Leu1977=)
c.5482C= (p.Leu1828=)
c.4819C= (p.Leu1607=)
c.9334C= (p.Leu3112=)
5g.13753373G>TCA359191523DNAH5c.10732C>A (p.Leu3578Ile)
c.10687C>A (p.Leu3563Ile)
c.10840C>A (p.Leu3614Ile)
c.9745C>A (p.Leu3249Ile)
c.5929C>A (p.Leu1977Ile)
c.5482C>A (p.Leu1828Ile)
c.4819C>A (p.Leu1607Ile)
c.9334C>A (p.Leu3112Ile)
5g.13753374G>ACA443535572DNAH5c.10731C>T (p.Asn3577=)
c.10686C>T (p.Asn3562=)
c.10839C>T (p.Asn3613=)
c.9744C>T (p.Asn3248=)
c.5928C>T (p.Asn1976=)
c.5481C>T (p.Asn1827=)
c.4818C>T (p.Asn1606=)
c.9333C>T (p.Asn3111=)
5g.13753374G>CCA3202146DNAH5c.10731C>G (p.Asn3577Lys)
c.10686C>G (p.Asn3562Lys)
c.10839C>G (p.Asn3613Lys)
c.9744C>G (p.Asn3248Lys)
c.5928C>G (p.Asn1976Lys)
c.5481C>G (p.Asn1827Lys)
c.4818C>G (p.Asn1606Lys)
c.9333C>G (p.Asn3111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753374G=CA1528423488DNAH5c.10731C= (p.Asn3577=)
c.10686C= (p.Asn3562=)
c.10839C= (p.Asn3613=)
c.9744C= (p.Asn3248=)
c.5928C= (p.Asn1976=)
c.5481C= (p.Asn1827=)
c.4818C= (p.Asn1606=)
c.9333C= (p.Asn3111=)
5g.13753374G>TCA10622661DNAH5c.10731C>A (p.Asn3577Lys)
c.10686C>A (p.Asn3562Lys)
c.10839C>A (p.Asn3613Lys)
c.9744C>A (p.Asn3248Lys)
c.5928C>A (p.Asn1976Lys)
c.5481C>A (p.Asn1827Lys)
c.4818C>A (p.Asn1606Lys)
c.9333C>A (p.Asn3111Lys)
 ClinVar dbSNP gnomAD v4
5g.13753375T>ACA359191530DNAH5c.10730A>T (p.Asn3577Ile)
c.10685A>T (p.Asn3562Ile)
c.10838A>T (p.Asn3613Ile)
c.9743A>T (p.Asn3248Ile)
c.5927A>T (p.Asn1976Ile)
c.5480A>T (p.Asn1827Ile)
c.4817A>T (p.Asn1606Ile)
c.9332A>T (p.Asn3111Ile)
5g.13753375T>CCA359191528DNAH5c.10730A>G (p.Asn3577Ser)
c.10685A>G (p.Asn3562Ser)
c.10838A>G (p.Asn3613Ser)
c.9743A>G (p.Asn3248Ser)
c.5927A>G (p.Asn1976Ser)
c.5480A>G (p.Asn1827Ser)
c.4817A>G (p.Asn1606Ser)
c.9332A>G (p.Asn3111Ser)
5g.13753375T>GCA359191531DNAH5c.10730A>C (p.Asn3577Thr)
c.10685A>C (p.Asn3562Thr)
c.10838A>C (p.Asn3613Thr)
c.9743A>C (p.Asn3248Thr)
c.5927A>C (p.Asn1976Thr)
c.5480A>C (p.Asn1827Thr)
c.4817A>C (p.Asn1606Thr)
c.9332A>C (p.Asn3111Thr)
5g.13753376T>ACA359191532DNAH5c.10729A>T (p.Asn3577Tyr)
c.10684A>T (p.Asn3562Tyr)
c.10837A>T (p.Asn3613Tyr)
c.9742A>T (p.Asn3248Tyr)
c.5926A>T (p.Asn1976Tyr)
c.5479A>T (p.Asn1827Tyr)
c.4816A>T (p.Asn1606Tyr)
c.9331A>T (p.Asn3111Tyr)
5g.13753376T>CCA359191534DNAH5c.10729A>G (p.Asn3577Asp)
c.10684A>G (p.Asn3562Asp)
c.10837A>G (p.Asn3613Asp)
c.9742A>G (p.Asn3248Asp)
c.5926A>G (p.Asn1976Asp)
c.5479A>G (p.Asn1827Asp)
c.4816A>G (p.Asn1606Asp)
c.9331A>G (p.Asn3111Asp)
5g.13753376T>GCA359191535DNAH5c.10729A>C (p.Asn3577His)
c.10684A>C (p.Asn3562His)
c.10837A>C (p.Asn3613His)
c.9742A>C (p.Asn3248His)
c.5926A>C (p.Asn1976His)
c.5479A>C (p.Asn1827His)
c.4816A>C (p.Asn1606His)
c.9331A>C (p.Asn3111His)
5g.13753377C>ACA359191537DNAH5c.10728G>T (p.Trp3576Cys)
c.10683G>T (p.Trp3561Cys)
c.10836G>T (p.Trp3612Cys)
c.9741G>T (p.Trp3247Cys)
c.5925G>T (p.Trp1975Cys)
c.5478G>T (p.Trp1826Cys)
c.4815G>T (p.Trp1605Cys)
c.9330G>T (p.Trp3110Cys)
5g.13753377C>GCA359191539DNAH5c.10728G>C (p.Trp3576Cys)
c.10683G>C (p.Trp3561Cys)
c.10836G>C (p.Trp3612Cys)
c.9741G>C (p.Trp3247Cys)
c.5925G>C (p.Trp1975Cys)
c.5478G>C (p.Trp1826Cys)
c.4815G>C (p.Trp1605Cys)
c.9330G>C (p.Trp3110Cys)
5g.13753377C>TCA359191541DNAH5c.10728G>A (p.Trp3576Ter)
c.10683G>A (p.Trp3561Ter)
c.10836G>A (p.Trp3612Ter)
c.9741G>A (p.Trp3247Ter)
c.5925G>A (p.Trp1975Ter)
c.5478G>A (p.Trp1826Ter)
c.4815G>A (p.Trp1605Ter)
c.9330G>A (p.Trp3110Ter)
5g.13753378C>ACA359191546DNAH5c.10727G>T (p.Trp3576Leu)
c.10682G>T (p.Trp3561Leu)
c.10835G>T (p.Trp3612Leu)
c.9740G>T (p.Trp3247Leu)
c.5924G>T (p.Trp1975Leu)
c.5477G>T (p.Trp1826Leu)
c.4814G>T (p.Trp1605Leu)
c.9329G>T (p.Trp3110Leu)
5g.13753378C>GCA359191543DNAH5c.10727G>C (p.Trp3576Ser)
c.10682G>C (p.Trp3561Ser)
c.10835G>C (p.Trp3612Ser)
c.9740G>C (p.Trp3247Ser)
c.5924G>C (p.Trp1975Ser)
c.5477G>C (p.Trp1826Ser)
c.4814G>C (p.Trp1605Ser)
c.9329G>C (p.Trp3110Ser)
5g.13753378C>TCA359191544DNAH5c.10727G>A (p.Trp3576Ter)
c.10682G>A (p.Trp3561Ter)
c.10835G>A (p.Trp3612Ter)
c.9740G>A (p.Trp3247Ter)
c.5924G>A (p.Trp1975Ter)
c.5477G>A (p.Trp1826Ter)
c.4814G>A (p.Trp1605Ter)
c.9329G>A (p.Trp3110Ter)
5g.13753379A>CCA359191548DNAH5c.10726T>G (p.Trp3576Gly)
c.10681T>G (p.Trp3561Gly)
c.10834T>G (p.Trp3612Gly)
c.9739T>G (p.Trp3247Gly)
c.5923T>G (p.Trp1975Gly)
c.5476T>G (p.Trp1826Gly)
c.4813T>G (p.Trp1605Gly)
c.9328T>G (p.Trp3110Gly)
5g.13753379A>GCA359191549DNAH5c.10726T>C (p.Trp3576Arg)
c.10681T>C (p.Trp3561Arg)
c.10834T>C (p.Trp3612Arg)
c.9739T>C (p.Trp3247Arg)
c.5923T>C (p.Trp1975Arg)
c.5476T>C (p.Trp1826Arg)
c.4813T>C (p.Trp1605Arg)
c.9328T>C (p.Trp3110Arg)
5g.13753379A>TCA359191550DNAH5c.10726T>A (p.Trp3576Arg)
c.10681T>A (p.Trp3561Arg)
c.10834T>A (p.Trp3612Arg)
c.9739T>A (p.Trp3247Arg)
c.5923T>A (p.Trp1975Arg)
c.5476T>A (p.Trp1826Arg)
c.4813T>A (p.Trp1605Arg)
c.9328T>A (p.Trp3110Arg)
5g.13753380T>ACA359191551DNAH5c.10725A>T (p.Glu3575Asp)
c.10680A>T (p.Glu3560Asp)
c.10833A>T (p.Glu3611Asp)
c.9738A>T (p.Glu3246Asp)
c.5922A>T (p.Glu1974Asp)
c.5475A>T (p.Glu1825Asp)
c.4812A>T (p.Glu1604Asp)
c.9327A>T (p.Glu3109Asp)
5g.13753380T>CCA443535578DNAH5c.10725A>G (p.Glu3575=)
c.10680A>G (p.Glu3560=)
c.10833A>G (p.Glu3611=)
c.9738A>G (p.Glu3246=)
c.5922A>G (p.Glu1974=)
c.5475A>G (p.Glu1825=)
c.4812A>G (p.Glu1604=)
c.9327A>G (p.Glu3109=)
5g.13753380T>GCA359191553DNAH5c.10725A>C (p.Glu3575Asp)
c.10680A>C (p.Glu3560Asp)
c.10833A>C (p.Glu3611Asp)
c.9738A>C (p.Glu3246Asp)
c.5922A>C (p.Glu1974Asp)
c.5475A>C (p.Glu1825Asp)
c.4812A>C (p.Glu1604Asp)
c.9327A>C (p.Glu3109Asp)
5g.13753381T>ACA359191555DNAH5c.10724A>T (p.Glu3575Val)
c.10679A>T (p.Glu3560Val)
c.10832A>T (p.Glu3611Val)
c.9737A>T (p.Glu3246Val)
c.5921A>T (p.Glu1974Val)
c.5474A>T (p.Glu1825Val)
c.4811A>T (p.Glu1604Val)
c.9326A>T (p.Glu3109Val)
5g.13753381T>CCA359191557DNAH5c.10724A>G (p.Glu3575Gly)
c.10679A>G (p.Glu3560Gly)
c.10832A>G (p.Glu3611Gly)
c.9737A>G (p.Glu3246Gly)
c.5921A>G (p.Glu1974Gly)
c.5474A>G (p.Glu1825Gly)
c.4811A>G (p.Glu1604Gly)
c.9326A>G (p.Glu3109Gly)
5g.13753381T>GCA3202147DNAH5c.10724A>C (p.Glu3575Ala)
c.10679A>C (p.Glu3560Ala)
c.10832A>C (p.Glu3611Ala)
c.9737A>C (p.Glu3246Ala)
c.5921A>C (p.Glu1974Ala)
c.5474A>C (p.Glu1825Ala)
c.4811A>C (p.Glu1604Ala)
c.9326A>C (p.Glu3109Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753381T=CA1528423489DNAH5c.10724A= (p.Glu3575=)
c.10679A= (p.Glu3560=)
c.10832A= (p.Glu3611=)
c.9737A= (p.Glu3246=)
c.5921A= (p.Glu1974=)
c.5474A= (p.Glu1825=)
c.4811A= (p.Glu1604=)
c.9326A= (p.Glu3109=)
5g.13753382C>ACA359191559DNAH5c.10723G>T (p.Glu3575Ter)
c.10678G>T (p.Glu3560Ter)
c.10831G>T (p.Glu3611Ter)
c.9736G>T (p.Glu3246Ter)
c.5920G>T (p.Glu1974Ter)
c.5473G>T (p.Glu1825Ter)
c.4810G>T (p.Glu1604Ter)
c.9325G>T (p.Glu3109Ter)
5g.13753382C>GCA359191561DNAH5c.10723G>C (p.Glu3575Gln)
c.10678G>C (p.Glu3560Gln)
c.10831G>C (p.Glu3611Gln)
c.9736G>C (p.Glu3246Gln)
c.5920G>C (p.Glu1974Gln)
c.5473G>C (p.Glu1825Gln)
c.4810G>C (p.Glu1604Gln)
c.9325G>C (p.Glu3109Gln)
5g.13753382C>TCA359191563DNAH5c.10723G>A (p.Glu3575Lys)
c.10678G>A (p.Glu3560Lys)
c.10831G>A (p.Glu3611Lys)
c.9736G>A (p.Glu3246Lys)
c.5920G>A (p.Glu1974Lys)
c.5473G>A (p.Glu1825Lys)
c.4810G>A (p.Glu1604Lys)
c.9325G>A (p.Glu3109Lys)
5g.13753383A>CCA359191565DNAH5c.10722T>G (p.Ser3574Arg)
c.10677T>G (p.Ser3559Arg)
c.10830T>G (p.Ser3610Arg)
c.9735T>G (p.Ser3245Arg)
c.5919T>G (p.Ser1973Arg)
c.5472T>G (p.Ser1824Arg)
c.4809T>G (p.Ser1603Arg)
c.9324T>G (p.Ser3108Arg)
5g.13753383A>GCA443535580DNAH5c.10722T>C (p.Ser3574=)
c.10677T>C (p.Ser3559=)
c.10830T>C (p.Ser3610=)
c.9735T>C (p.Ser3245=)
c.5919T>C (p.Ser1973=)
c.5472T>C (p.Ser1824=)
c.4809T>C (p.Ser1603=)
c.9324T>C (p.Ser3108=)
5g.13753383A>TCA359191566DNAH5c.10722T>A (p.Ser3574Arg)
c.10677T>A (p.Ser3559Arg)
c.10830T>A (p.Ser3610Arg)
c.9735T>A (p.Ser3245Arg)
c.5919T>A (p.Ser1973Arg)
c.5472T>A (p.Ser1824Arg)
c.4809T>A (p.Ser1603Arg)
c.9324T>A (p.Ser3108Arg)
 gnomAD v4
5g.13753384C>ACA359191568DNAH5c.10721G>T (p.Ser3574Ile)
c.10676G>T (p.Ser3559Ile)
c.10829G>T (p.Ser3610Ile)
c.9734G>T (p.Ser3245Ile)
c.5918G>T (p.Ser1973Ile)
c.5471G>T (p.Ser1824Ile)
c.4808G>T (p.Ser1603Ile)
c.9323G>T (p.Ser3108Ile)
5g.13753384C>GCA359191569DNAH5c.10721G>C (p.Ser3574Thr)
c.10676G>C (p.Ser3559Thr)
c.10829G>C (p.Ser3610Thr)
c.9734G>C (p.Ser3245Thr)
c.5918G>C (p.Ser1973Thr)
c.5471G>C (p.Ser1824Thr)
c.4808G>C (p.Ser1603Thr)
c.9323G>C (p.Ser3108Thr)
5g.13753384C>TCA359191571DNAH5c.10721G>A (p.Ser3574Asn)
c.10676G>A (p.Ser3559Asn)
c.10829G>A (p.Ser3610Asn)
c.9734G>A (p.Ser3245Asn)
c.5918G>A (p.Ser1973Asn)
c.5471G>A (p.Ser1824Asn)
c.4808G>A (p.Ser1603Asn)
c.9323G>A (p.Ser3108Asn)
5g.13753384_13753433delCA2527990983DNAH5c.10672_10721del (p.Gly3558Ter)
c.10627_10676del (p.Gly3543Ter)
c.10780_10829del (p.Gly3594Ter)
c.9685_9734del (p.Gly3229Ter)
c.5869_5918del (p.Gly1957Ter)
c.5422_5471del (p.Gly1808Ter)
c.4759_4808del (p.Gly1587Ter)
c.9274_9323del (p.Gly3092Ter)
5g.13753385T>ACA359191573DNAH5c.10720A>T (p.Ser3574Cys)
c.10675A>T (p.Ser3559Cys)
c.10828A>T (p.Ser3610Cys)
c.9733A>T (p.Ser3245Cys)
c.5917A>T (p.Ser1973Cys)
c.5470A>T (p.Ser1824Cys)
c.4807A>T (p.Ser1603Cys)
c.9322A>T (p.Ser3108Cys)
5g.13753385T>CCA3202148DNAH5c.10720A>G (p.Ser3574Gly)
c.10675A>G (p.Ser3559Gly)
c.10828A>G (p.Ser3610Gly)
c.9733A>G (p.Ser3245Gly)
c.5917A>G (p.Ser1973Gly)
c.5470A>G (p.Ser1824Gly)
c.4807A>G (p.Ser1603Gly)
c.9322A>G (p.Ser3108Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13753385T>GCA359191576DNAH5c.10720A>C (p.Ser3574Arg)
c.10675A>C (p.Ser3559Arg)
c.10828A>C (p.Ser3610Arg)
c.9733A>C (p.Ser3245Arg)
c.5917A>C (p.Ser1973Arg)
c.5470A>C (p.Ser1824Arg)
c.4807A>C (p.Ser1603Arg)
c.9322A>C (p.Ser3108Arg)
5g.13753385T=CA1528423491DNAH5c.10720A= (p.Ser3574=)
c.10675A= (p.Ser3559=)
c.10828A= (p.Ser3610=)
c.9733A= (p.Ser3245=)
c.5917A= (p.Ser1973=)
c.5470A= (p.Ser1824=)
c.4807A= (p.Ser1603=)
c.9322A= (p.Ser3108=)
5g.13753385_13753386delinsTACA1528423490DNAH5c.10719_10720delinsTA (p.Ile3573=)
c.10674_10675delinsTA (p.Ile3558=)
c.10827_10828delinsTA (p.Ile3609=)
c.9732_9733delinsTA (p.Ile3244=)
c.5916_5917delinsTA (p.Ile1972=)
c.5469_5470delinsTA (p.Ile1823=)
c.4806_4807delinsTA (p.Ile1602=)
c.9321_9322delinsTA (p.Ile3107=)
5g.13753386A>CCA359191579DNAH5c.10719T>G (p.Ile3573Met)
c.10674T>G (p.Ile3558Met)
c.10827T>G (p.Ile3609Met)
c.9732T>G (p.Ile3244Met)
c.5916T>G (p.Ile1972Met)
c.5469T>G (p.Ile1823Met)
c.4806T>G (p.Ile1602Met)
c.9321T>G (p.Ile3107Met)
5g.13753386A>GCA443535587DNAH5c.10719T>C (p.Ile3573=)
c.10674T>C (p.Ile3558=)
c.10827T>C (p.Ile3609=)
c.9732T>C (p.Ile3244=)
c.5916T>C (p.Ile1972=)
c.5469T>C (p.Ile1823=)
c.4806T>C (p.Ile1602=)
c.9321T>C (p.Ile3107=)
5g.13753386A>TCA443535588DNAH5c.10719T>A (p.Ile3573=)
c.10674T>A (p.Ile3558=)
c.10827T>A (p.Ile3609=)
c.9732T>A (p.Ile3244=)
c.5916T>A (p.Ile1972=)
c.5469T>A (p.Ile1823=)
c.4806T>A (p.Ile1602=)
c.9321T>A (p.Ile3107=)
5g.13753387delCA3202149DNAH5c.10719del (p.Ser3574ValfsTer?)
c.10674del (p.Ser3559ValfsTer?)
c.10827del (p.Ser3610ValfsTer?)
c.9732del (p.Ser3245ValfsTer?)
c.5916del (p.Ser1973ValfsTer?)
c.5469del (p.Ser1824ValfsTer?)
c.4806del (p.Ser1603ValfsTer?)
c.9321del (p.Ser3108ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753387A=CA1528423493DNAH5c.10718T= (p.Ile3573=)
c.10673T= (p.Ile3558=)
c.10826T= (p.Ile3609=)
c.9731T= (p.Ile3244=)
c.5915T= (p.Ile1972=)
c.5468T= (p.Ile1823=)
c.4805T= (p.Ile1602=)
c.9320T= (p.Ile3107=)
5g.13753387A>CCA359191581DNAH5c.10718T>G (p.Ile3573Ser)
c.10673T>G (p.Ile3558Ser)
c.10826T>G (p.Ile3609Ser)
c.9731T>G (p.Ile3244Ser)
c.5915T>G (p.Ile1972Ser)
c.5468T>G (p.Ile1823Ser)
c.4805T>G (p.Ile1602Ser)
c.9320T>G (p.Ile3107Ser)
 dbSNP
5g.13753387A>GCA359191584DNAH5c.10718T>C (p.Ile3573Thr)
c.10673T>C (p.Ile3558Thr)
c.10826T>C (p.Ile3609Thr)
c.9731T>C (p.Ile3244Thr)
c.5915T>C (p.Ile1972Thr)
c.5468T>C (p.Ile1823Thr)
c.4805T>C (p.Ile1602Thr)
c.9320T>C (p.Ile3107Thr)
 COSMIC
5g.13753387A>TCA359191590DNAH5c.10718T>A (p.Ile3573Asn)
c.10673T>A (p.Ile3558Asn)
c.10826T>A (p.Ile3609Asn)
c.9731T>A (p.Ile3244Asn)
c.5915T>A (p.Ile1972Asn)
c.5468T>A (p.Ile1823Asn)
c.4805T>A (p.Ile1602Asn)
c.9320T>A (p.Ile3107Asn)
5g.13753387_13753390delinsATAGCA1528423492DNAH5c.10715_10718delinsCTAT (p.Thr3572=)
c.10670_10673delinsCTAT (p.Thr3557=)
c.10823_10826delinsCTAT (p.Thr3608=)
c.9728_9731delinsCTAT (p.Thr3243=)
c.5912_5915delinsCTAT (p.Thr1971=)
c.5465_5468delinsCTAT (p.Thr1822=)
c.4802_4805delinsCTAT (p.Thr1601=)
c.9317_9320delinsCTAT (p.Thr3106=)
5g.13753388T>ACA359191595DNAH5c.10717A>T (p.Ile3573Phe)
c.10672A>T (p.Ile3558Phe)
c.10825A>T (p.Ile3609Phe)
c.9730A>T (p.Ile3244Phe)
c.5914A>T (p.Ile1972Phe)
c.5467A>T (p.Ile1823Phe)
c.4804A>T (p.Ile1602Phe)
c.9319A>T (p.Ile3107Phe)
5g.13753388T>CCA359191598DNAH5c.10717A>G (p.Ile3573Val)
c.10672A>G (p.Ile3558Val)
c.10825A>G (p.Ile3609Val)
c.9730A>G (p.Ile3244Val)
c.5914A>G (p.Ile1972Val)
c.5467A>G (p.Ile1823Val)
c.4804A>G (p.Ile1602Val)
c.9319A>G (p.Ile3107Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753388T>GCA359191600DNAH5c.10717A>C (p.Ile3573Leu)
c.10672A>C (p.Ile3558Leu)
c.10825A>C (p.Ile3609Leu)
c.9730A>C (p.Ile3244Leu)
c.5914A>C (p.Ile1972Leu)
c.5467A>C (p.Ile1823Leu)
c.4804A>C (p.Ile1602Leu)
c.9319A>C (p.Ile3107Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.13753388T=CA1528423494DNAH5c.10717A= (p.Ile3573=)
c.10672A= (p.Ile3558=)
c.10825A= (p.Ile3609=)
c.9730A= (p.Ile3244=)
c.5914A= (p.Ile1972=)
c.5467A= (p.Ile1823=)
c.4804A= (p.Ile1602=)
c.9319A= (p.Ile3107=)
5g.13753391_13753393delCA3202150DNAH5c.10715_10717del (p.Thr3572del)
c.10670_10672del (p.Thr3557del)
c.10823_10825del (p.Thr3608del)
c.9728_9730del (p.Thr3243del)
c.5912_5914del (p.Thr1971del)
c.5465_5467del (p.Thr1822del)
c.4802_4804del (p.Thr1601del)
c.9317_9319del (p.Thr3106del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753389A>CCA443535592DNAH5c.10716T>G (p.Thr3572=)
c.10671T>G (p.Thr3557=)
c.10824T>G (p.Thr3608=)
c.9729T>G (p.Thr3243=)
c.5913T>G (p.Thr1971=)
c.5466T>G (p.Thr1822=)
c.4803T>G (p.Thr1601=)
c.9318T>G (p.Thr3106=)
5g.13753389A>GCA443535593DNAH5c.10716T>C (p.Thr3572=)
c.10671T>C (p.Thr3557=)
c.10824T>C (p.Thr3608=)
c.9729T>C (p.Thr3243=)
c.5913T>C (p.Thr1971=)
c.5466T>C (p.Thr1822=)
c.4803T>C (p.Thr1601=)
c.9318T>C (p.Thr3106=)
5g.13753389A>TCA443535594DNAH5c.10716T>A (p.Thr3572=)
c.10671T>A (p.Thr3557=)
c.10824T>A (p.Thr3608=)
c.9729T>A (p.Thr3243=)
c.5913T>A (p.Thr1971=)
c.5466T>A (p.Thr1822=)
c.4803T>A (p.Thr1601=)
c.9318T>A (p.Thr3106=)
5g.13753390G>ACA359191607DNAH5c.10715C>T (p.Thr3572Ile)
c.10670C>T (p.Thr3557Ile)
c.10823C>T (p.Thr3608Ile)
c.9728C>T (p.Thr3243Ile)
c.5912C>T (p.Thr1971Ile)
c.5465C>T (p.Thr1822Ile)
c.4802C>T (p.Thr1601Ile)
c.9317C>T (p.Thr3106Ile)
 gnomAD v4
5g.13753390G>CCA359191608DNAH5c.10715C>G (p.Thr3572Ser)
c.10670C>G (p.Thr3557Ser)
c.10823C>G (p.Thr3608Ser)
c.9728C>G (p.Thr3243Ser)
c.5912C>G (p.Thr1971Ser)
c.5465C>G (p.Thr1822Ser)
c.4802C>G (p.Thr1601Ser)
c.9317C>G (p.Thr3106Ser)
 gnomAD v4
5g.13753390G>TCA359191615DNAH5c.10715C>A (p.Thr3572Asn)
c.10670C>A (p.Thr3557Asn)
c.10823C>A (p.Thr3608Asn)
c.9728C>A (p.Thr3243Asn)
c.5912C>A (p.Thr1971Asn)
c.5465C>A (p.Thr1822Asn)
c.4802C>A (p.Thr1601Asn)
c.9317C>A (p.Thr3106Asn)
5g.13753391T>ACA359191617DNAH5c.10714A>T (p.Thr3572Ser)
c.10669A>T (p.Thr3557Ser)
c.10822A>T (p.Thr3608Ser)
c.9727A>T (p.Thr3243Ser)
c.5911A>T (p.Thr1971Ser)
c.5464A>T (p.Thr1822Ser)
c.4801A>T (p.Thr1601Ser)
c.9316A>T (p.Thr3106Ser)
 dbSNP
5g.13753391T>CCA359191619DNAH5c.10714A>G (p.Thr3572Ala)
c.10669A>G (p.Thr3557Ala)
c.10822A>G (p.Thr3608Ala)
c.9727A>G (p.Thr3243Ala)
c.5911A>G (p.Thr1971Ala)
c.5464A>G (p.Thr1822Ala)
c.4801A>G (p.Thr1601Ala)
c.9316A>G (p.Thr3106Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.13753391T>GCA359191621DNAH5c.10714A>C (p.Thr3572Pro)
c.10669A>C (p.Thr3557Pro)
c.10822A>C (p.Thr3608Pro)
c.9727A>C (p.Thr3243Pro)
c.5911A>C (p.Thr1971Pro)
c.5464A>C (p.Thr1822Pro)
c.4801A>C (p.Thr1601Pro)
c.9316A>C (p.Thr3106Pro)
 gnomAD v4
5g.13753391T=CA1528423495DNAH5c.10714A= (p.Thr3572=)
c.10669A= (p.Thr3557=)
c.10822A= (p.Thr3608=)
c.9727A= (p.Thr3243=)
c.5911A= (p.Thr1971=)
c.5464A= (p.Thr1822=)
c.4801A= (p.Thr1601=)
c.9316A= (p.Thr3106=)
5g.13753392A=CA1528423496DNAH5c.10713T= (p.Pro3571=)
c.10668T= (p.Pro3556=)
c.10821T= (p.Pro3607=)
c.9726T= (p.Pro3242=)
c.5910T= (p.Pro1970=)
c.5463T= (p.Pro1821=)
c.4800T= (p.Pro1600=)
c.9315T= (p.Pro3105=)
5g.13753392A>CCA443535755DNAH5c.10713T>G (p.Pro3571=)
c.10668T>G (p.Pro3556=)
c.10821T>G (p.Pro3607=)
c.9726T>G (p.Pro3242=)
c.5910T>G (p.Pro1970=)
c.5463T>G (p.Pro1821=)
c.4800T>G (p.Pro1600=)
c.9315T>G (p.Pro3105=)
5g.13753392A>GCA3202152DNAH5c.10713T>C (p.Pro3571=)
c.10668T>C (p.Pro3556=)
c.10821T>C (p.Pro3607=)
c.9726T>C (p.Pro3242=)
c.5910T>C (p.Pro1970=)
c.5463T>C (p.Pro1821=)
c.4800T>C (p.Pro1600=)
c.9315T>C (p.Pro3105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753392A>TCA443535756DNAH5c.10713T>A (p.Pro3571=)
c.10668T>A (p.Pro3556=)
c.10821T>A (p.Pro3607=)
c.9726T>A (p.Pro3242=)
c.5910T>A (p.Pro1970=)
c.5463T>A (p.Pro1821=)
c.4800T>A (p.Pro1600=)
c.9315T>A (p.Pro3105=)
5g.13753393_13753398dupCA3202151DNAH5c.10708_10713dup (p.Pro3571_Thr3572insAlaPro)
c.10663_10668dup (p.Pro3556_Thr3557insAlaPro)
c.10816_10821dup (p.Pro3607_Thr3608insAlaPro)
c.9721_9726dup (p.Pro3242_Thr3243insAlaPro)
c.5905_5910dup (p.Pro1970_Thr1971insAlaPro)
c.5458_5463dup (p.Pro1821_Thr1822insAlaPro)
c.4795_4800dup (p.Pro1600_Thr1601insAlaPro)
c.9310_9315dup (p.Pro3105_Thr3106insAlaPro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753393G>ACA359191628DNAH5c.10712C>T (p.Pro3571Leu)
c.10667C>T (p.Pro3556Leu)
c.10820C>T (p.Pro3607Leu)
c.9725C>T (p.Pro3242Leu)
c.5909C>T (p.Pro1970Leu)
c.5462C>T (p.Pro1821Leu)
c.4799C>T (p.Pro1600Leu)
c.9314C>T (p.Pro3105Leu)
5g.13753393G>CCA359191630DNAH5c.10712C>G (p.Pro3571Arg)
c.10667C>G (p.Pro3556Arg)
c.10820C>G (p.Pro3607Arg)
c.9725C>G (p.Pro3242Arg)
c.5909C>G (p.Pro1970Arg)
c.5462C>G (p.Pro1821Arg)
c.4799C>G (p.Pro1600Arg)
c.9314C>G (p.Pro3105Arg)
5g.13753393G>TCA359191631DNAH5c.10712C>A (p.Pro3571His)
c.10667C>A (p.Pro3556His)
c.10820C>A (p.Pro3607His)
c.9725C>A (p.Pro3242His)
c.5909C>A (p.Pro1970His)
c.5462C>A (p.Pro1821His)
c.4799C>A (p.Pro1600His)
c.9314C>A (p.Pro3105His)
5g.13753394G>ACA359191634DNAH5c.10711C>T (p.Pro3571Ser)
c.10666C>T (p.Pro3556Ser)
c.10819C>T (p.Pro3607Ser)
c.9724C>T (p.Pro3242Ser)
c.5908C>T (p.Pro1970Ser)
c.5461C>T (p.Pro1821Ser)
c.4798C>T (p.Pro1600Ser)
c.9313C>T (p.Pro3105Ser)
 COSMIC
5g.13753394G>CCA359191635DNAH5c.10711C>G (p.Pro3571Ala)
c.10666C>G (p.Pro3556Ala)
c.10819C>G (p.Pro3607Ala)
c.9724C>G (p.Pro3242Ala)
c.5908C>G (p.Pro1970Ala)
c.5461C>G (p.Pro1821Ala)
c.4798C>G (p.Pro1600Ala)
c.9313C>G (p.Pro3105Ala)
 COSMIC
5g.13753394G>TCA359191637DNAH5c.10711C>A (p.Pro3571Thr)
c.10666C>A (p.Pro3556Thr)
c.10819C>A (p.Pro3607Thr)
c.9724C>A (p.Pro3242Thr)
c.5908C>A (p.Pro1970Thr)
c.5461C>A (p.Pro1821Thr)
c.4798C>A (p.Pro1600Thr)
c.9313C>A (p.Pro3105Thr)
5g.13753395A>CCA443535764DNAH5c.10710T>G (p.Ala3570=)
c.10665T>G (p.Ala3555=)
c.10818T>G (p.Ala3606=)
c.9723T>G (p.Ala3241=)
c.5907T>G (p.Ala1969=)
c.5460T>G (p.Ala1820=)
c.4797T>G (p.Ala1599=)
c.9312T>G (p.Ala3104=)
5g.13753395A>GCA443535765DNAH5c.10710T>C (p.Ala3570=)
c.10665T>C (p.Ala3555=)
c.10818T>C (p.Ala3606=)
c.9723T>C (p.Ala3241=)
c.5907T>C (p.Ala1969=)
c.5460T>C (p.Ala1820=)
c.4797T>C (p.Ala1599=)
c.9312T>C (p.Ala3104=)
5g.13753395A>TCA443535767DNAH5c.10710T>A (p.Ala3570=)
c.10665T>A (p.Ala3555=)
c.10818T>A (p.Ala3606=)
c.9723T>A (p.Ala3241=)
c.5907T>A (p.Ala1969=)
c.5460T>A (p.Ala1820=)
c.4797T>A (p.Ala1599=)
c.9312T>A (p.Ala3104=)
 ClinVar
5g.13753396G>ACA113918988DNAH5c.10709C>T (p.Ala3570Val)
c.10664C>T (p.Ala3555Val)
c.10817C>T (p.Ala3606Val)
c.9722C>T (p.Ala3241Val)
c.5906C>T (p.Ala1969Val)
c.5459C>T (p.Ala1820Val)
c.4796C>T (p.Ala1599Val)
c.9311C>T (p.Ala3104Val)
 dbSNP gnomAD v2 gnomAD v4
5g.13753396G>CCA359191641DNAH5c.10709C>G (p.Ala3570Gly)
c.10664C>G (p.Ala3555Gly)
c.10817C>G (p.Ala3606Gly)
c.9722C>G (p.Ala3241Gly)
c.5906C>G (p.Ala1969Gly)
c.5459C>G (p.Ala1820Gly)
c.4796C>G (p.Ala1599Gly)
c.9311C>G (p.Ala3104Gly)
5g.13753396G=CA1528423497DNAH5c.10709C= (p.Ala3570=)
c.10664C= (p.Ala3555=)
c.10817C= (p.Ala3606=)
c.9722C= (p.Ala3241=)
c.5906C= (p.Ala1969=)
c.5459C= (p.Ala1820=)
c.4796C= (p.Ala1599=)
c.9311C= (p.Ala3104=)
5g.13753396G>TCA359191645DNAH5c.10709C>A (p.Ala3570Asp)
c.10664C>A (p.Ala3555Asp)
c.10817C>A (p.Ala3606Asp)
c.9722C>A (p.Ala3241Asp)
c.5906C>A (p.Ala1969Asp)
c.5459C>A (p.Ala1820Asp)
c.4796C>A (p.Ala1599Asp)
c.9311C>A (p.Ala3104Asp)
5g.13753397C>ACA359191647DNAH5c.10708G>T (p.Ala3570Ser)
c.10663G>T (p.Ala3555Ser)
c.10816G>T (p.Ala3606Ser)
c.9721G>T (p.Ala3241Ser)
c.5905G>T (p.Ala1969Ser)
c.5458G>T (p.Ala1820Ser)
c.4795G>T (p.Ala1599Ser)
c.9310G>T (p.Ala3104Ser)
5g.13753397C>GCA359191649DNAH5c.10708G>C (p.Ala3570Pro)
c.10663G>C (p.Ala3555Pro)
c.10816G>C (p.Ala3606Pro)
c.9721G>C (p.Ala3241Pro)
c.5905G>C (p.Ala1969Pro)
c.5458G>C (p.Ala1820Pro)
c.4795G>C (p.Ala1599Pro)
c.9310G>C (p.Ala3104Pro)
5g.13753397C>TCA359191650DNAH5c.10708G>A (p.Ala3570Thr)
c.10663G>A (p.Ala3555Thr)
c.10816G>A (p.Ala3606Thr)
c.9721G>A (p.Ala3241Thr)
c.5905G>A (p.Ala1969Thr)
c.5458G>A (p.Ala1820Thr)
c.4795G>A (p.Ala1599Thr)
c.9310G>A (p.Ala3104Thr)
 gnomAD v4
5g.13753398A>CCA359191653DNAH5c.10707T>G (p.Asp3569Glu)
c.10662T>G (p.Asp3554Glu)
c.10815T>G (p.Asp3605Glu)
c.9720T>G (p.Asp3240Glu)
c.5904T>G (p.Asp1968Glu)
c.5457T>G (p.Asp1819Glu)
c.4794T>G (p.Asp1598Glu)
c.9309T>G (p.Asp3103Glu)
5g.13753398A>GCA443535772DNAH5c.10707T>C (p.Asp3569=)
c.10662T>C (p.Asp3554=)
c.10815T>C (p.Asp3605=)
c.9720T>C (p.Asp3240=)
c.5904T>C (p.Asp1968=)
c.5457T>C (p.Asp1819=)
c.4794T>C (p.Asp1598=)
c.9309T>C (p.Asp3103=)
 ClinVar dbSNP
5g.13753398A>TCA359191655DNAH5c.10707T>A (p.Asp3569Glu)
c.10662T>A (p.Asp3554Glu)
c.10815T>A (p.Asp3605Glu)
c.9720T>A (p.Asp3240Glu)
c.5904T>A (p.Asp1968Glu)
c.5457T>A (p.Asp1819Glu)
c.4794T>A (p.Asp1598Glu)
c.9309T>A (p.Asp3103Glu)
5g.13753399T>ACA359191658DNAH5c.10706A>T (p.Asp3569Val)
c.10661A>T (p.Asp3554Val)
c.10814A>T (p.Asp3605Val)
c.9719A>T (p.Asp3240Val)
c.5903A>T (p.Asp1968Val)
c.5456A>T (p.Asp1819Val)
c.4793A>T (p.Asp1598Val)
c.9308A>T (p.Asp3103Val)
5g.13753399T>CCA3202153DNAH5c.10706A>G (p.Asp3569Gly)
c.10661A>G (p.Asp3554Gly)
c.10814A>G (p.Asp3605Gly)
c.9719A>G (p.Asp3240Gly)
c.5903A>G (p.Asp1968Gly)
c.5456A>G (p.Asp1819Gly)
c.4793A>G (p.Asp1598Gly)
c.9308A>G (p.Asp3103Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753399T>GCA359191659DNAH5c.10706A>C (p.Asp3569Ala)
c.10661A>C (p.Asp3554Ala)
c.10814A>C (p.Asp3605Ala)
c.9719A>C (p.Asp3240Ala)
c.5903A>C (p.Asp1968Ala)
c.5456A>C (p.Asp1819Ala)
c.4793A>C (p.Asp1598Ala)
c.9308A>C (p.Asp3103Ala)
5g.13753399T=CA1528423498DNAH5c.10706A= (p.Asp3569=)
c.10661A= (p.Asp3554=)
c.10814A= (p.Asp3605=)
c.9719A= (p.Asp3240=)
c.5903A= (p.Asp1968=)
c.5456A= (p.Asp1819=)
c.4793A= (p.Asp1598=)
c.9308A= (p.Asp3103=)
5g.13753400C>ACA359191665DNAH5c.10705G>T (p.Asp3569Tyr)
c.10660G>T (p.Asp3554Tyr)
c.10813G>T (p.Asp3605Tyr)
c.9718G>T (p.Asp3240Tyr)
c.5902G>T (p.Asp1968Tyr)
c.5455G>T (p.Asp1819Tyr)
c.4792G>T (p.Asp1598Tyr)
c.9307G>T (p.Asp3103Tyr)
5g.13753400C>GCA359191668DNAH5c.10705G>C (p.Asp3569His)
c.10660G>C (p.Asp3554His)
c.10813G>C (p.Asp3605His)
c.9718G>C (p.Asp3240His)
c.5902G>C (p.Asp1968His)
c.5455G>C (p.Asp1819His)
c.4792G>C (p.Asp1598His)
c.9307G>C (p.Asp3103His)
5g.13753400C>TCA359191669DNAH5c.10705G>A (p.Asp3569Asn)
c.10660G>A (p.Asp3554Asn)
c.10813G>A (p.Asp3605Asn)
c.9718G>A (p.Asp3240Asn)
c.5902G>A (p.Asp1968Asn)
c.5455G>A (p.Asp1819Asn)
c.4792G>A (p.Asp1598Asn)
c.9307G>A (p.Asp3103Asn)
5g.13753401A>CCA359191672DNAH5c.10704T>G (p.Ile3568Met)
c.10659T>G (p.Ile3553Met)
c.10812T>G (p.Ile3604Met)
c.9717T>G (p.Ile3239Met)
c.5901T>G (p.Ile1967Met)
c.5454T>G (p.Ile1818Met)
c.4791T>G (p.Ile1597Met)
c.9306T>G (p.Ile3102Met)
5g.13753401A>GCA443535784DNAH5c.10704T>C (p.Ile3568=)
c.10659T>C (p.Ile3553=)
c.10812T>C (p.Ile3604=)
c.9717T>C (p.Ile3239=)
c.5901T>C (p.Ile1967=)
c.5454T>C (p.Ile1818=)
c.4791T>C (p.Ile1597=)
c.9306T>C (p.Ile3102=)
5g.13753401A>TCA443535782DNAH5c.10704T>A (p.Ile3568=)
c.10659T>A (p.Ile3553=)
c.10812T>A (p.Ile3604=)
c.9717T>A (p.Ile3239=)
c.5901T>A (p.Ile1967=)
c.5454T>A (p.Ile1818=)
c.4791T>A (p.Ile1597=)
c.9306T>A (p.Ile3102=)
5g.13753402A=CA1528423499DNAH5c.10703T= (p.Ile3568=)
c.10658T= (p.Ile3553=)
c.10811T= (p.Ile3604=)
c.9716T= (p.Ile3239=)
c.5900T= (p.Ile1967=)
c.5453T= (p.Ile1818=)
c.4790T= (p.Ile1597=)
c.9305T= (p.Ile3102=)
5g.13753402A>CCA359191675DNAH5c.10703T>G (p.Ile3568Ser)
c.10658T>G (p.Ile3553Ser)
c.10811T>G (p.Ile3604Ser)
c.9716T>G (p.Ile3239Ser)
c.5900T>G (p.Ile1967Ser)
c.5453T>G (p.Ile1818Ser)
c.4790T>G (p.Ile1597Ser)
c.9305T>G (p.Ile3102Ser)
 dbSNP gnomAD v4
5g.13753402A>GCA359191677DNAH5c.10703T>C (p.Ile3568Thr)
c.10658T>C (p.Ile3553Thr)
c.10811T>C (p.Ile3604Thr)
c.9716T>C (p.Ile3239Thr)
c.5900T>C (p.Ile1967Thr)
c.5453T>C (p.Ile1818Thr)
c.4790T>C (p.Ile1597Thr)
c.9305T>C (p.Ile3102Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753402A>TCA359191678DNAH5c.10703T>A (p.Ile3568Asn)
c.10658T>A (p.Ile3553Asn)
c.10811T>A (p.Ile3604Asn)
c.9716T>A (p.Ile3239Asn)
c.5900T>A (p.Ile1967Asn)
c.5453T>A (p.Ile1818Asn)
c.4790T>A (p.Ile1597Asn)
c.9305T>A (p.Ile3102Asn)
5g.13753403T>ACA359191681DNAH5c.10702A>T (p.Ile3568Phe)
c.10657A>T (p.Ile3553Phe)
c.10810A>T (p.Ile3604Phe)
c.9715A>T (p.Ile3239Phe)
c.5899A>T (p.Ile1967Phe)
c.5452A>T (p.Ile1818Phe)
c.4789A>T (p.Ile1597Phe)
c.9304A>T (p.Ile3102Phe)
5g.13753403T>CCA359191683DNAH5c.10702A>G (p.Ile3568Val)
c.10657A>G (p.Ile3553Val)
c.10810A>G (p.Ile3604Val)
c.9715A>G (p.Ile3239Val)
c.5899A>G (p.Ile1967Val)
c.5452A>G (p.Ile1818Val)
c.4789A>G (p.Ile1597Val)
c.9304A>G (p.Ile3102Val)
5g.13753403T>GCA359191686DNAH5c.10702A>C (p.Ile3568Leu)
c.10657A>C (p.Ile3553Leu)
c.10810A>C (p.Ile3604Leu)
c.9715A>C (p.Ile3239Leu)
c.5899A>C (p.Ile1967Leu)
c.5452A>C (p.Ile1818Leu)
c.4789A>C (p.Ile1597Leu)
c.9304A>C (p.Ile3102Leu)
5g.13753404C>ACA359191689DNAH5c.10701G>T (p.Leu3567Phe)
c.10656G>T (p.Leu3552Phe)
c.10809G>T (p.Leu3603Phe)
c.9714G>T (p.Leu3238Phe)
c.5898G>T (p.Leu1966Phe)
c.5451G>T (p.Leu1817Phe)
c.4788G>T (p.Leu1596Phe)
c.9303G>T (p.Leu3101Phe)
5g.13753404C>GCA359191691DNAH5c.10701G>C (p.Leu3567Phe)
c.10656G>C (p.Leu3552Phe)
c.10809G>C (p.Leu3603Phe)
c.9714G>C (p.Leu3238Phe)
c.5898G>C (p.Leu1966Phe)
c.5451G>C (p.Leu1817Phe)
c.4788G>C (p.Leu1596Phe)
c.9303G>C (p.Leu3101Phe)
5g.13753404C>TCA443535789DNAH5c.10701G>A (p.Leu3567=)
c.10656G>A (p.Leu3552=)
c.10809G>A (p.Leu3603=)
c.9714G>A (p.Leu3238=)
c.5898G>A (p.Leu1966=)
c.5451G>A (p.Leu1817=)
c.4788G>A (p.Leu1596=)
c.9303G>A (p.Leu3101=)
5g.13753405A=CA1528423500DNAH5c.10700T= (p.Leu3567=)
c.10655T= (p.Leu3552=)
c.10808T= (p.Leu3603=)
c.9713T= (p.Leu3238=)
c.5897T= (p.Leu1966=)
c.5450T= (p.Leu1817=)
c.4787T= (p.Leu1596=)
c.9302T= (p.Leu3101=)
5g.13753405A>CCA359191699DNAH5c.10700T>G (p.Leu3567Trp)
c.10655T>G (p.Leu3552Trp)
c.10808T>G (p.Leu3603Trp)
c.9713T>G (p.Leu3238Trp)
c.5897T>G (p.Leu1966Trp)
c.5450T>G (p.Leu1817Trp)
c.4787T>G (p.Leu1596Trp)
c.9302T>G (p.Leu3101Trp)
 COSMIC
5g.13753405A>GCA3202154DNAH5c.10700T>C (p.Leu3567Ser)
c.10655T>C (p.Leu3552Ser)
c.10808T>C (p.Leu3603Ser)
c.9713T>C (p.Leu3238Ser)
c.5897T>C (p.Leu1966Ser)
c.5450T>C (p.Leu1817Ser)
c.4787T>C (p.Leu1596Ser)
c.9302T>C (p.Leu3101Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753405A>TCA359191696DNAH5c.10700T>A (p.Leu3567Ter)
c.10655T>A (p.Leu3552Ter)
c.10808T>A (p.Leu3603Ter)
c.9713T>A (p.Leu3238Ter)
c.5897T>A (p.Leu1966Ter)
c.5450T>A (p.Leu1817Ter)
c.4787T>A (p.Leu1596Ter)
c.9302T>A (p.Leu3101Ter)
5g.13753406A>CCA359191703DNAH5c.10699T>G (p.Leu3567Val)
c.10654T>G (p.Leu3552Val)
c.10807T>G (p.Leu3603Val)
c.9712T>G (p.Leu3238Val)
c.5896T>G (p.Leu1966Val)
c.5449T>G (p.Leu1817Val)
c.4786T>G (p.Leu1596Val)
c.9301T>G (p.Leu3101Val)
 gnomAD v4
5g.13753406A>GCA443535794DNAH5c.10699T>C (p.Leu3567=)
c.10654T>C (p.Leu3552=)
c.10807T>C (p.Leu3603=)
c.9712T>C (p.Leu3238=)
c.5896T>C (p.Leu1966=)
c.5449T>C (p.Leu1817=)
c.4786T>C (p.Leu1596=)
c.9301T>C (p.Leu3101=)
5g.13753406A>TCA359191706DNAH5c.10699T>A (p.Leu3567Met)
c.10654T>A (p.Leu3552Met)
c.10807T>A (p.Leu3603Met)
c.9712T>A (p.Leu3238Met)
c.5896T>A (p.Leu1966Met)
c.5449T>A (p.Leu1817Met)
c.4786T>A (p.Leu1596Met)
c.9301T>A (p.Leu3101Met)
5g.13753407C>ACA359191708DNAH5c.10698G>T (p.Met3566Ile)
c.10653G>T (p.Met3551Ile)
c.10806G>T (p.Met3602Ile)
c.9711G>T (p.Met3237Ile)
c.5895G>T (p.Met1965Ile)
c.5448G>T (p.Met1816Ile)
c.4785G>T (p.Met1595Ile)
c.9300G>T (p.Met3100Ile)
5g.13753407C=CA1528423501DNAH5c.10698G= (p.Met3566=)
c.10653G= (p.Met3551=)
c.10806G= (p.Met3602=)
c.9711G= (p.Met3237=)
c.5895G= (p.Met1965=)
c.5448G= (p.Met1816=)
c.4785G= (p.Met1595=)
c.9300G= (p.Met3100=)
5g.13753407C>GCA359191710DNAH5c.10698G>C (p.Met3566Ile)
c.10653G>C (p.Met3551Ile)
c.10806G>C (p.Met3602Ile)
c.9711G>C (p.Met3237Ile)
c.5895G>C (p.Met1965Ile)
c.5448G>C (p.Met1816Ile)
c.4785G>C (p.Met1595Ile)
c.9300G>C (p.Met3100Ile)
5g.13753407C>TCA3202155DNAH5c.10698G>A (p.Met3566Ile)
c.10653G>A (p.Met3551Ile)
c.10806G>A (p.Met3602Ile)
c.9711G>A (p.Met3237Ile)
c.5895G>A (p.Met1965Ile)
c.5448G>A (p.Met1816Ile)
c.4785G>A (p.Met1595Ile)
c.9300G>A (p.Met3100Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13753408A=CA1528423502DNAH5c.10697T= (p.Met3566=)
c.10652T= (p.Met3551=)
c.10805T= (p.Met3602=)
c.9710T= (p.Met3237=)
c.5894T= (p.Met1965=)
c.5447T= (p.Met1816=)
c.4784T= (p.Met1595=)
c.9299T= (p.Met3100=)
5g.13753408A>CCA359191715DNAH5c.10697T>G (p.Met3566Arg)
c.10652T>G (p.Met3551Arg)
c.10805T>G (p.Met3602Arg)
c.9710T>G (p.Met3237Arg)
c.5894T>G (p.Met1965Arg)
c.5447T>G (p.Met1816Arg)
c.4784T>G (p.Met1595Arg)
c.9299T>G (p.Met3100Arg)
5g.13753408A>GCA359191717DNAH5c.10697T>C (p.Met3566Thr)
c.10652T>C (p.Met3551Thr)
c.10805T>C (p.Met3602Thr)
c.9710T>C (p.Met3237Thr)
c.5894T>C (p.Met1965Thr)
c.5447T>C (p.Met1816Thr)
c.4784T>C (p.Met1595Thr)
c.9299T>C (p.Met3100Thr)
 dbSNP gnomAD v2
5g.13753408A>TCA359191719DNAH5c.10697T>A (p.Met3566Lys)
c.10652T>A (p.Met3551Lys)
c.10805T>A (p.Met3602Lys)
c.9710T>A (p.Met3237Lys)
c.5894T>A (p.Met1965Lys)
c.5447T>A (p.Met1816Lys)
c.4784T>A (p.Met1595Lys)
c.9299T>A (p.Met3100Lys)
5g.13753409T>ACA359191721DNAH5c.10696A>T (p.Met3566Leu)
c.10651A>T (p.Met3551Leu)
c.10804A>T (p.Met3602Leu)
c.9709A>T (p.Met3237Leu)
c.5893A>T (p.Met1965Leu)
c.5446A>T (p.Met1816Leu)
c.4783A>T (p.Met1595Leu)
c.9298A>T (p.Met3100Leu)
5g.13753409T>CCA359191724DNAH5c.10696A>G (p.Met3566Val)
c.10651A>G (p.Met3551Val)
c.10804A>G (p.Met3602Val)
c.9709A>G (p.Met3237Val)
c.5893A>G (p.Met1965Val)
c.5446A>G (p.Met1816Val)
c.4783A>G (p.Met1595Val)
c.9298A>G (p.Met3100Val)
5g.13753409T>GCA359191727DNAH5c.10696A>C (p.Met3566Leu)
c.10651A>C (p.Met3551Leu)
c.10804A>C (p.Met3602Leu)
c.9709A>C (p.Met3237Leu)
c.5893A>C (p.Met1965Leu)
c.5446A>C (p.Met1816Leu)
c.4783A>C (p.Met1595Leu)
c.9298A>C (p.Met3100Leu)
 gnomAD v4
5g.13753410C>ACA359191730DNAH5c.10695G>T (p.Glu3565Asp)
c.10650G>T (p.Glu3550Asp)
c.10803G>T (p.Glu3601Asp)
c.9708G>T (p.Glu3236Asp)
c.5892G>T (p.Glu1964Asp)
c.5445G>T (p.Glu1815Asp)
c.4782G>T (p.Glu1594Asp)
c.9297G>T (p.Glu3099Asp)
5g.13753410C>GCA359191729DNAH5c.10695G>C (p.Glu3565Asp)
c.10650G>C (p.Glu3550Asp)
c.10803G>C (p.Glu3601Asp)
c.9708G>C (p.Glu3236Asp)
c.5892G>C (p.Glu1964Asp)
c.5445G>C (p.Glu1815Asp)
c.4782G>C (p.Glu1594Asp)
c.9297G>C (p.Glu3099Asp)
5g.13753410C>TCA443535807DNAH5c.10695G>A (p.Glu3565=)
c.10650G>A (p.Glu3550=)
c.10803G>A (p.Glu3601=)
c.9708G>A (p.Glu3236=)
c.5892G>A (p.Glu1964=)
c.5445G>A (p.Glu1815=)
c.4782G>A (p.Glu1594=)
c.9297G>A (p.Glu3099=)
 gnomAD v4
5g.13753411T>ACA359191735DNAH5c.10694A>T (p.Glu3565Val)
c.10649A>T (p.Glu3550Val)
c.10802A>T (p.Glu3601Val)
c.9707A>T (p.Glu3236Val)
c.5891A>T (p.Glu1964Val)
c.5444A>T (p.Glu1815Val)
c.4781A>T (p.Glu1594Val)
c.9296A>T (p.Glu3099Val)
5g.13753411T>CCA359191737DNAH5c.10694A>G (p.Glu3565Gly)
c.10649A>G (p.Glu3550Gly)
c.10802A>G (p.Glu3601Gly)
c.9707A>G (p.Glu3236Gly)
c.5891A>G (p.Glu1964Gly)
c.5444A>G (p.Glu1815Gly)
c.4781A>G (p.Glu1594Gly)
c.9296A>G (p.Glu3099Gly)
5g.13753411T>GCA359191739DNAH5c.10694A>C (p.Glu3565Ala)
c.10649A>C (p.Glu3550Ala)
c.10802A>C (p.Glu3601Ala)
c.9707A>C (p.Glu3236Ala)
c.5891A>C (p.Glu1964Ala)
c.5444A>C (p.Glu1815Ala)
c.4781A>C (p.Glu1594Ala)
c.9296A>C (p.Glu3099Ala)
5g.13753412C>ACA359191743DNAH5c.10693G>T (p.Glu3565Ter)
c.10648G>T (p.Glu3550Ter)
c.10801G>T (p.Glu3601Ter)
c.9706G>T (p.Glu3236Ter)
c.5890G>T (p.Glu1964Ter)
c.5443G>T (p.Glu1815Ter)
c.4780G>T (p.Glu1594Ter)
c.9295G>T (p.Glu3099Ter)
5g.13753412C>GCA359191745DNAH5c.10693G>C (p.Glu3565Gln)
c.10648G>C (p.Glu3550Gln)
c.10801G>C (p.Glu3601Gln)
c.9706G>C (p.Glu3236Gln)
c.5890G>C (p.Glu1964Gln)
c.5443G>C (p.Glu1815Gln)
c.4780G>C (p.Glu1594Gln)
c.9295G>C (p.Glu3099Gln)
5g.13753412C>TCA359191747DNAH5c.10693G>A (p.Glu3565Lys)
c.10648G>A (p.Glu3550Lys)
c.10801G>A (p.Glu3601Lys)
c.9706G>A (p.Glu3236Lys)
c.5890G>A (p.Glu1964Lys)
c.5443G>A (p.Glu1815Lys)
c.4780G>A (p.Glu1594Lys)
c.9295G>A (p.Glu3099Lys)
 gnomAD v4
5g.13753413A>CCA359191749DNAH5c.10692T>G (p.Ser3564Arg)
c.10647T>G (p.Ser3549Arg)
c.10800T>G (p.Ser3600Arg)
c.9705T>G (p.Ser3235Arg)
c.5889T>G (p.Ser1963Arg)
c.5442T>G (p.Ser1814Arg)
c.4779T>G (p.Ser1593Arg)
c.9294T>G (p.Ser3098Arg)
 gnomAD v4
5g.13753413A>GCA443535816DNAH5c.10692T>C (p.Ser3564=)
c.10647T>C (p.Ser3549=)
c.10800T>C (p.Ser3600=)
c.9705T>C (p.Ser3235=)
c.5889T>C (p.Ser1963=)
c.5442T>C (p.Ser1814=)
c.4779T>C (p.Ser1593=)
c.9294T>C (p.Ser3098=)
5g.13753413A>TCA359191748DNAH5c.10692T>A (p.Ser3564Arg)
c.10647T>A (p.Ser3549Arg)
c.10800T>A (p.Ser3600Arg)
c.9705T>A (p.Ser3235Arg)
c.5889T>A (p.Ser1963Arg)
c.5442T>A (p.Ser1814Arg)
c.4779T>A (p.Ser1593Arg)
c.9294T>A (p.Ser3098Arg)
5g.13753414C>ACA359191752DNAH5c.10691G>T (p.Ser3564Ile)
c.10646G>T (p.Ser3549Ile)
c.10799G>T (p.Ser3600Ile)
c.9704G>T (p.Ser3235Ile)
c.5888G>T (p.Ser1963Ile)
c.5441G>T (p.Ser1814Ile)
c.4778G>T (p.Ser1593Ile)
c.9293G>T (p.Ser3098Ile)
5g.13753414C>GCA359191754DNAH5c.10691G>C (p.Ser3564Thr)
c.10646G>C (p.Ser3549Thr)
c.10799G>C (p.Ser3600Thr)
c.9704G>C (p.Ser3235Thr)
c.5888G>C (p.Ser1963Thr)
c.5441G>C (p.Ser1814Thr)
c.4778G>C (p.Ser1593Thr)
c.9293G>C (p.Ser3098Thr)
5g.13753414C>TCA359191756DNAH5c.10691G>A (p.Ser3564Asn)
c.10646G>A (p.Ser3549Asn)
c.10799G>A (p.Ser3600Asn)
c.9704G>A (p.Ser3235Asn)
c.5888G>A (p.Ser1963Asn)
c.5441G>A (p.Ser1814Asn)
c.4778G>A (p.Ser1593Asn)
c.9293G>A (p.Ser3098Asn)
 gnomAD v4
5g.13753415T>ACA359191758DNAH5c.10690A>T (p.Ser3564Cys)
c.10645A>T (p.Ser3549Cys)
c.10798A>T (p.Ser3600Cys)
c.9703A>T (p.Ser3235Cys)
c.5887A>T (p.Ser1963Cys)
c.5440A>T (p.Ser1814Cys)
c.4777A>T (p.Ser1593Cys)
c.9292A>T (p.Ser3098Cys)
5g.13753415T>CCA359191760DNAH5c.10690A>G (p.Ser3564Gly)
c.10645A>G (p.Ser3549Gly)
c.10798A>G (p.Ser3600Gly)
c.9703A>G (p.Ser3235Gly)
c.5887A>G (p.Ser1963Gly)
c.5440A>G (p.Ser1814Gly)
c.4777A>G (p.Ser1593Gly)
c.9292A>G (p.Ser3098Gly)
5g.13753415T>GCA359191762DNAH5c.10690A>C (p.Ser3564Arg)
c.10645A>C (p.Ser3549Arg)
c.10798A>C (p.Ser3600Arg)
c.9703A>C (p.Ser3235Arg)
c.5887A>C (p.Ser1963Arg)
c.5440A>C (p.Ser1814Arg)
c.4777A>C (p.Ser1593Arg)
c.9292A>C (p.Ser3098Arg)
 ClinVar dbSNP gnomAD v4
5g.13753416G>ACA443535821DNAH5c.10689C>T (p.Leu3563=)
c.10644C>T (p.Leu3548=)
c.10797C>T (p.Leu3599=)
c.9702C>T (p.Leu3234=)
c.5886C>T (p.Leu1962=)
c.5439C>T (p.Leu1813=)
c.4776C>T (p.Leu1592=)
c.9291C>T (p.Leu3097=)
5g.13753416G>CCA443535823DNAH5c.10689C>G (p.Leu3563=)
c.10644C>G (p.Leu3548=)
c.10797C>G (p.Leu3599=)
c.9702C>G (p.Leu3234=)
c.5886C>G (p.Leu1962=)
c.5439C>G (p.Leu1813=)
c.4776C>G (p.Leu1592=)
c.9291C>G (p.Leu3097=)
5g.13753416G>TCA443535824DNAH5c.10689C>A (p.Leu3563=)
c.10644C>A (p.Leu3548=)
c.10797C>A (p.Leu3599=)
c.9702C>A (p.Leu3234=)
c.5886C>A (p.Leu1962=)
c.5439C>A (p.Leu1813=)
c.4776C>A (p.Leu1592=)
c.9291C>A (p.Leu3097=)
5g.13753417A>CCA359191766DNAH5c.10688T>G (p.Leu3563Arg)
c.10643T>G (p.Leu3548Arg)
c.10796T>G (p.Leu3599Arg)
c.9701T>G (p.Leu3234Arg)
c.5885T>G (p.Leu1962Arg)
c.5438T>G (p.Leu1813Arg)
c.4775T>G (p.Leu1592Arg)
c.9290T>G (p.Leu3097Arg)
5g.13753417A>GCA359191770DNAH5c.10688T>C (p.Leu3563Pro)
c.10643T>C (p.Leu3548Pro)
c.10796T>C (p.Leu3599Pro)
c.9701T>C (p.Leu3234Pro)
c.5885T>C (p.Leu1962Pro)
c.5438T>C (p.Leu1813Pro)
c.4775T>C (p.Leu1592Pro)
c.9290T>C (p.Leu3097Pro)
5g.13753417A>TCA359191768DNAH5c.10688T>A (p.Leu3563His)
c.10643T>A (p.Leu3548His)
c.10796T>A (p.Leu3599His)
c.9701T>A (p.Leu3234His)
c.5885T>A (p.Leu1962His)
c.5438T>A (p.Leu1813His)
c.4775T>A (p.Leu1592His)
c.9290T>A (p.Leu3097His)
5g.13753418G>ACA359191772DNAH5c.10687C>T (p.Leu3563Phe)
c.10642C>T (p.Leu3548Phe)
c.10795C>T (p.Leu3599Phe)
c.9700C>T (p.Leu3234Phe)
c.5884C>T (p.Leu1962Phe)
c.5437C>T (p.Leu1813Phe)
c.4774C>T (p.Leu1592Phe)
c.9289C>T (p.Leu3097Phe)
5g.13753418G>CCA359191773DNAH5c.10687C>G (p.Leu3563Val)
c.10642C>G (p.Leu3548Val)
c.10795C>G (p.Leu3599Val)
c.9700C>G (p.Leu3234Val)
c.5884C>G (p.Leu1962Val)
c.5437C>G (p.Leu1813Val)
c.4774C>G (p.Leu1592Val)
c.9289C>G (p.Leu3097Val)
5g.13753418G=CA1528423503DNAH5c.10687C= (p.Leu3563=)
c.10642C= (p.Leu3548=)
c.10795C= (p.Leu3599=)
c.9700C= (p.Leu3234=)
c.5884C= (p.Leu1962=)
c.5437C= (p.Leu1813=)
c.4774C= (p.Leu1592=)
c.9289C= (p.Leu3097=)
5g.13753418G>TCA359191776DNAH5c.10687C>A (p.Leu3563Ile)
c.10642C>A (p.Leu3548Ile)
c.10795C>A (p.Leu3599Ile)
c.9700C>A (p.Leu3234Ile)
c.5884C>A (p.Leu1962Ile)
c.5437C>A (p.Leu1813Ile)
c.4774C>A (p.Leu1592Ile)
c.9289C>A (p.Leu3097Ile)
 dbSNP
5g.13753419A>CCA359191778DNAH5c.10686T>G (p.Asn3562Lys)
c.10641T>G (p.Asn3547Lys)
c.10794T>G (p.Asn3598Lys)
c.9699T>G (p.Asn3233Lys)
c.5883T>G (p.Asn1961Lys)
c.5436T>G (p.Asn1812Lys)
c.4773T>G (p.Asn1591Lys)
c.9288T>G (p.Asn3096Lys)
5g.13753419A>GCA443535831DNAH5c.10686T>C (p.Asn3562=)
c.10641T>C (p.Asn3547=)
c.10794T>C (p.Asn3598=)
c.9699T>C (p.Asn3233=)
c.5883T>C (p.Asn1961=)
c.5436T>C (p.Asn1812=)
c.4773T>C (p.Asn1591=)
c.9288T>C (p.Asn3096=)
5g.13753419A>TCA359191782DNAH5c.10686T>A (p.Asn3562Lys)
c.10641T>A (p.Asn3547Lys)
c.10794T>A (p.Asn3598Lys)
c.9699T>A (p.Asn3233Lys)
c.5883T>A (p.Asn1961Lys)
c.5436T>A (p.Asn1812Lys)
c.4773T>A (p.Asn1591Lys)
c.9288T>A (p.Asn3096Lys)
5g.13753420T>ACA359191785DNAH5c.10685A>T (p.Asn3562Ile)
c.10640A>T (p.Asn3547Ile)
c.10793A>T (p.Asn3598Ile)
c.9698A>T (p.Asn3233Ile)
c.5882A>T (p.Asn1961Ile)
c.5435A>T (p.Asn1812Ile)
c.4772A>T (p.Asn1591Ile)
c.9287A>T (p.Asn3096Ile)
5g.13753420T>CCA359191788DNAH5c.10685A>G (p.Asn3562Ser)
c.10640A>G (p.Asn3547Ser)
c.10793A>G (p.Asn3598Ser)
c.9698A>G (p.Asn3233Ser)
c.5882A>G (p.Asn1961Ser)
c.5435A>G (p.Asn1812Ser)
c.4772A>G (p.Asn1591Ser)
c.9287A>G (p.Asn3096Ser)
5g.13753420T>GCA359191790DNAH5c.10685A>C (p.Asn3562Thr)
c.10640A>C (p.Asn3547Thr)
c.10793A>C (p.Asn3598Thr)
c.9698A>C (p.Asn3233Thr)
c.5882A>C (p.Asn1961Thr)
c.5435A>C (p.Asn1812Thr)
c.4772A>C (p.Asn1591Thr)
c.9287A>C (p.Asn3096Thr)
5g.13753421T>ACA359191793DNAH5c.10684A>T (p.Asn3562Tyr)
c.10639A>T (p.Asn3547Tyr)
c.10792A>T (p.Asn3598Tyr)
c.9697A>T (p.Asn3233Tyr)
c.5881A>T (p.Asn1961Tyr)
c.5434A>T (p.Asn1812Tyr)
c.4771A>T (p.Asn1591Tyr)
c.9286A>T (p.Asn3096Tyr)
5g.13753421T>CCA359191795DNAH5c.10684A>G (p.Asn3562Asp)
c.10639A>G (p.Asn3547Asp)
c.10792A>G (p.Asn3598Asp)
c.9697A>G (p.Asn3233Asp)
c.5881A>G (p.Asn1961Asp)
c.5434A>G (p.Asn1812Asp)
c.4771A>G (p.Asn1591Asp)
c.9286A>G (p.Asn3096Asp)
 gnomAD v4
5g.13753421T>GCA359191798DNAH5c.10684A>C (p.Asn3562His)
c.10639A>C (p.Asn3547His)
c.10792A>C (p.Asn3598His)
c.9697A>C (p.Asn3233His)
c.5881A>C (p.Asn1961His)
c.5434A>C (p.Asn1812His)
c.4771A>C (p.Asn1591His)
c.9286A>C (p.Asn3096His)
5g.13753422T>ACA443535839DNAH5c.10683A>T (p.Leu3561=)
c.10638A>T (p.Leu3546=)
c.10791A>T (p.Leu3597=)
c.9696A>T (p.Leu3232=)
c.5880A>T (p.Leu1960=)
c.5433A>T (p.Leu1811=)
c.4770A>T (p.Leu1590=)
c.9285A>T (p.Leu3095=)
5g.13753422T>CCA443535842DNAH5c.10683A>G (p.Leu3561=)
c.10638A>G (p.Leu3546=)
c.10791A>G (p.Leu3597=)
c.9696A>G (p.Leu3232=)
c.5880A>G (p.Leu1960=)
c.5433A>G (p.Leu1811=)
c.4770A>G (p.Leu1590=)
c.9285A>G (p.Leu3095=)
5g.13753422T>GCA443535837DNAH5c.10683A>C (p.Leu3561=)
c.10638A>C (p.Leu3546=)
c.10791A>C (p.Leu3597=)
c.9696A>C (p.Leu3232=)
c.5880A>C (p.Leu1960=)
c.5433A>C (p.Leu1811=)
c.4770A>C (p.Leu1590=)
c.9285A>C (p.Leu3095=)
5g.13753423A>CCA359191806DNAH5c.10682T>G (p.Leu3561Arg)
c.10637T>G (p.Leu3546Arg)
c.10790T>G (p.Leu3597Arg)
c.9695T>G (p.Leu3232Arg)
c.5879T>G (p.Leu1960Arg)
c.5432T>G (p.Leu1811Arg)
c.4769T>G (p.Leu1590Arg)
c.9284T>G (p.Leu3095Arg)
5g.13753423A>GCA359191803DNAH5c.10682T>C (p.Leu3561Pro)
c.10637T>C (p.Leu3546Pro)
c.10790T>C (p.Leu3597Pro)
c.9695T>C (p.Leu3232Pro)
c.5879T>C (p.Leu1960Pro)
c.5432T>C (p.Leu1811Pro)
c.4769T>C (p.Leu1590Pro)
c.9284T>C (p.Leu3095Pro)
5g.13753423A>TCA359191801DNAH5c.10682T>A (p.Leu3561Gln)
c.10637T>A (p.Leu3546Gln)
c.10790T>A (p.Leu3597Gln)
c.9695T>A (p.Leu3232Gln)
c.5879T>A (p.Leu1960Gln)
c.5432T>A (p.Leu1811Gln)
c.4769T>A (p.Leu1590Gln)
c.9284T>A (p.Leu3095Gln)
5g.13753424G>ACA443535843DNAH5c.10681C>T (p.Leu3561=)
c.10636C>T (p.Leu3546=)
c.10789C>T (p.Leu3597=)
c.9694C>T (p.Leu3232=)
c.5878C>T (p.Leu1960=)
c.5431C>T (p.Leu1811=)
c.4768C>T (p.Leu1590=)
c.9283C>T (p.Leu3095=)
 dbSNP
5g.13753424G>CCA359191809DNAH5c.10681C>G (p.Leu3561Val)
c.10636C>G (p.Leu3546Val)
c.10789C>G (p.Leu3597Val)
c.9694C>G (p.Leu3232Val)
c.5878C>G (p.Leu1960Val)
c.5431C>G (p.Leu1811Val)
c.4768C>G (p.Leu1590Val)
c.9283C>G (p.Leu3095Val)
 ClinVar
5g.13753424G=CA1528423504DNAH5c.10681C= (p.Leu3561=)
c.10636C= (p.Leu3546=)
c.10789C= (p.Leu3597=)
c.9694C= (p.Leu3232=)
c.5878C= (p.Leu1960=)
c.5431C= (p.Leu1811=)
c.4768C= (p.Leu1590=)
c.9283C= (p.Leu3095=)
5g.13753424G>TCA359191812DNAH5c.10681C>A (p.Leu3561Ile)
c.10636C>A (p.Leu3546Ile)
c.10789C>A (p.Leu3597Ile)
c.9694C>A (p.Leu3232Ile)
c.5878C>A (p.Leu1960Ile)
c.5431C>A (p.Leu1811Ile)
c.4768C>A (p.Leu1590Ile)
c.9283C>A (p.Leu3095Ile)
5g.13753425G>ACA3202156DNAH5c.10680C>T (p.Asn3560=)
c.10635C>T (p.Asn3545=)
c.10788C>T (p.Asn3596=)
c.9693C>T (p.Asn3231=)
c.5877C>T (p.Asn1959=)
c.5430C>T (p.Asn1810=)
c.4767C>T (p.Asn1589=)
c.9282C>T (p.Asn3094=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753425G>CCA359191817DNAH5c.10680C>G (p.Asn3560Lys)
c.10635C>G (p.Asn3545Lys)
c.10788C>G (p.Asn3596Lys)
c.9693C>G (p.Asn3231Lys)
c.5877C>G (p.Asn1959Lys)
c.5430C>G (p.Asn1810Lys)
c.4767C>G (p.Asn1589Lys)
c.9282C>G (p.Asn3094Lys)
 dbSNP
5g.13753425G=CA1528423505DNAH5c.10680C= (p.Asn3560=)
c.10635C= (p.Asn3545=)
c.10788C= (p.Asn3596=)
c.9693C= (p.Asn3231=)
c.5877C= (p.Asn1959=)
c.5430C= (p.Asn1810=)
c.4767C= (p.Asn1589=)
c.9282C= (p.Asn3094=)
5g.13753425G>TCA3202157DNAH5c.10680C>A (p.Asn3560Lys)
c.10635C>A (p.Asn3545Lys)
c.10788C>A (p.Asn3596Lys)
c.9693C>A (p.Asn3231Lys)
c.5877C>A (p.Asn1959Lys)
c.5430C>A (p.Asn1810Lys)
c.4767C>A (p.Asn1589Lys)
c.9282C>A (p.Asn3094Lys)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13753426T>ACA359191819DNAH5c.10679A>T (p.Asn3560Ile)
c.10634A>T (p.Asn3545Ile)
c.10787A>T (p.Asn3596Ile)
c.9692A>T (p.Asn3231Ile)
c.5876A>T (p.Asn1959Ile)
c.5429A>T (p.Asn1810Ile)
c.4766A>T (p.Asn1589Ile)
c.9281A>T (p.Asn3094Ile)
 COSMIC
5g.13753426T>CCA359191820DNAH5c.10679A>G (p.Asn3560Ser)
c.10634A>G (p.Asn3545Ser)
c.10787A>G (p.Asn3596Ser)
c.9692A>G (p.Asn3231Ser)
c.5876A>G (p.Asn1959Ser)
c.5429A>G (p.Asn1810Ser)
c.4766A>G (p.Asn1589Ser)
c.9281A>G (p.Asn3094Ser)
5g.13753426T>GCA359191822DNAH5c.10679A>C (p.Asn3560Thr)
c.10634A>C (p.Asn3545Thr)
c.10787A>C (p.Asn3596Thr)
c.9692A>C (p.Asn3231Thr)
c.5876A>C (p.Asn1959Thr)
c.5429A>C (p.Asn1810Thr)
c.4766A>C (p.Asn1589Thr)
c.9281A>C (p.Asn3094Thr)
5g.13753427T>ACA359191824DNAH5c.10678A>T (p.Asn3560Tyr)
c.10633A>T (p.Asn3545Tyr)
c.10786A>T (p.Asn3596Tyr)
c.9691A>T (p.Asn3231Tyr)
c.5875A>T (p.Asn1959Tyr)
c.5428A>T (p.Asn1810Tyr)
c.4765A>T (p.Asn1589Tyr)
c.9280A>T (p.Asn3094Tyr)
 COSMIC
5g.13753427T>CCA359191827DNAH5c.10678A>G (p.Asn3560Asp)
c.10633A>G (p.Asn3545Asp)
c.10786A>G (p.Asn3596Asp)
c.9691A>G (p.Asn3231Asp)
c.5875A>G (p.Asn1959Asp)
c.5428A>G (p.Asn1810Asp)
c.4765A>G (p.Asn1589Asp)
c.9280A>G (p.Asn3094Asp)
5g.13753427T>GCA359191830DNAH5c.10678A>C (p.Asn3560His)
c.10633A>C (p.Asn3545His)
c.10786A>C (p.Asn3596His)
c.9691A>C (p.Asn3231His)
c.5875A>C (p.Asn1959His)
c.5428A>C (p.Asn1810His)
c.4765A>C (p.Asn1589His)
c.9280A>C (p.Asn3094His)
5g.13753428C>ACA359191834DNAH5c.10677G>T (p.Lys3559Asn)
c.10632G>T (p.Lys3544Asn)
c.10785G>T (p.Lys3595Asn)
c.9690G>T (p.Lys3230Asn)
c.5874G>T (p.Lys1958Asn)
c.5427G>T (p.Lys1809Asn)
c.4764G>T (p.Lys1588Asn)
c.9279G>T (p.Lys3093Asn)
 COSMIC
5g.13753428C>GCA359191835DNAH5c.10677G>C (p.Lys3559Asn)
c.10632G>C (p.Lys3544Asn)
c.10785G>C (p.Lys3595Asn)
c.9690G>C (p.Lys3230Asn)
c.5874G>C (p.Lys1958Asn)
c.5427G>C (p.Lys1809Asn)
c.4764G>C (p.Lys1588Asn)
c.9279G>C (p.Lys3093Asn)
5g.13753428C>TCA443535855DNAH5c.10677G>A (p.Lys3559=)
c.10632G>A (p.Lys3544=)
c.10785G>A (p.Lys3595=)
c.9690G>A (p.Lys3230=)
c.5874G>A (p.Lys1958=)
c.5427G>A (p.Lys1809=)
c.4764G>A (p.Lys1588=)
c.9279G>A (p.Lys3093=)
5g.13753429T>ACA359191837DNAH5c.10676A>T (p.Lys3559Met)
c.10631A>T (p.Lys3544Met)
c.10784A>T (p.Lys3595Met)
c.9689A>T (p.Lys3230Met)
c.5873A>T (p.Lys1958Met)
c.5426A>T (p.Lys1809Met)
c.4763A>T (p.Lys1588Met)
c.9278A>T (p.Lys3093Met)
5g.13753429T>CCA359191840DNAH5c.10676A>G (p.Lys3559Arg)
c.10631A>G (p.Lys3544Arg)
c.10784A>G (p.Lys3595Arg)
c.9689A>G (p.Lys3230Arg)
c.5873A>G (p.Lys1958Arg)
c.5426A>G (p.Lys1809Arg)
c.4763A>G (p.Lys1588Arg)
c.9278A>G (p.Lys3093Arg)
 gnomAD v4
5g.13753429T>GCA359191843DNAH5c.10676A>C (p.Lys3559Thr)
c.10631A>C (p.Lys3544Thr)
c.10784A>C (p.Lys3595Thr)
c.9689A>C (p.Lys3230Thr)
c.5873A>C (p.Lys1958Thr)
c.5426A>C (p.Lys1809Thr)
c.4763A>C (p.Lys1588Thr)
c.9278A>C (p.Lys3093Thr)
5g.13753430T>ACA359191851DNAH5c.10675A>T (p.Lys3559Ter)
c.10630A>T (p.Lys3544Ter)
c.10783A>T (p.Lys3595Ter)
c.9688A>T (p.Lys3230Ter)
c.5872A>T (p.Lys1958Ter)
c.5425A>T (p.Lys1809Ter)
c.4762A>T (p.Lys1588Ter)
c.9277A>T (p.Lys3093Ter)
5g.13753430T>CCA359191846DNAH5c.10675A>G (p.Lys3559Glu)
c.10630A>G (p.Lys3544Glu)
c.10783A>G (p.Lys3595Glu)
c.9688A>G (p.Lys3230Glu)
c.5872A>G (p.Lys1958Glu)
c.5425A>G (p.Lys1809Glu)
c.4762A>G (p.Lys1588Glu)
c.9277A>G (p.Lys3093Glu)
5g.13753430T>GCA359191848DNAH5c.10675A>C (p.Lys3559Gln)
c.10630A>C (p.Lys3544Gln)
c.10783A>C (p.Lys3595Gln)
c.9688A>C (p.Lys3230Gln)
c.5872A>C (p.Lys1958Gln)
c.5425A>C (p.Lys1809Gln)
c.4762A>C (p.Lys1588Gln)
c.9277A>C (p.Lys3093Gln)
5g.13753431T>ACA443535866DNAH5c.10674A>T (p.Gly3558=)
c.10629A>T (p.Gly3543=)
c.10782A>T (p.Gly3594=)
c.9687A>T (p.Gly3229=)
c.5871A>T (p.Gly1957=)
c.5424A>T (p.Gly1808=)
c.4761A>T (p.Gly1587=)
c.9276A>T (p.Gly3092=)
5g.13753431T>CCA443535868DNAH5c.10674A>G (p.Gly3558=)
c.10629A>G (p.Gly3543=)
c.10782A>G (p.Gly3594=)
c.9687A>G (p.Gly3229=)
c.5871A>G (p.Gly1957=)
c.5424A>G (p.Gly1808=)
c.4761A>G (p.Gly1587=)
c.9276A>G (p.Gly3092=)
5g.13753431T>GCA443535867DNAH5c.10674A>C (p.Gly3558=)
c.10629A>C (p.Gly3543=)
c.10782A>C (p.Gly3594=)
c.9687A>C (p.Gly3229=)
c.5871A>C (p.Gly1957=)
c.5424A>C (p.Gly1808=)
c.4761A>C (p.Gly1587=)
c.9276A>C (p.Gly3092=)
5g.13753432C>ACA359191855DNAH5c.10673G>T (p.Gly3558Val)
c.10628G>T (p.Gly3543Val)
c.10781G>T (p.Gly3594Val)
c.9686G>T (p.Gly3229Val)
c.5870G>T (p.Gly1957Val)
c.5423G>T (p.Gly1808Val)
c.4760G>T (p.Gly1587Val)
c.9275G>T (p.Gly3092Val)
5g.13753432C>GCA359191857DNAH5c.10673G>C (p.Gly3558Ala)
c.10628G>C (p.Gly3543Ala)
c.10781G>C (p.Gly3594Ala)
c.9686G>C (p.Gly3229Ala)
c.5870G>C (p.Gly1957Ala)
c.5423G>C (p.Gly1808Ala)
c.4760G>C (p.Gly1587Ala)
c.9275G>C (p.Gly3092Ala)
 COSMIC
5g.13753432C>TCA359191859DNAH5c.10673G>A (p.Gly3558Glu)
c.10628G>A (p.Gly3543Glu)
c.10781G>A (p.Gly3594Glu)
c.9686G>A (p.Gly3229Glu)
c.5870G>A (p.Gly1957Glu)
c.5423G>A (p.Gly1808Glu)
c.4760G>A (p.Gly1587Glu)
c.9275G>A (p.Gly3092Glu)
5g.13753433C>ACA359191863DNAH5c.10672G>T (p.Gly3558Ter)
c.10627G>T (p.Gly3543Ter)
c.10780G>T (p.Gly3594Ter)
c.9685G>T (p.Gly3229Ter)
c.5869G>T (p.Gly1957Ter)
c.5422G>T (p.Gly1808Ter)
c.4759G>T (p.Gly1587Ter)
c.9274G>T (p.Gly3092Ter)
5g.13753433C=CA1528423506DNAH5c.10672G= (p.Gly3558=)
c.10627G= (p.Gly3543=)
c.10780G= (p.Gly3594=)
c.9685G= (p.Gly3229=)
c.5869G= (p.Gly1957=)
c.5422G= (p.Gly1808=)
c.4759G= (p.Gly1587=)
c.9274G= (p.Gly3092=)
5g.13753433C>GCA359191866DNAH5c.10672G>C (p.Gly3558Arg)
c.10627G>C (p.Gly3543Arg)
c.10780G>C (p.Gly3594Arg)
c.9685G>C (p.Gly3229Arg)
c.5869G>C (p.Gly1957Arg)
c.5422G>C (p.Gly1808Arg)
c.4759G>C (p.Gly1587Arg)
c.9274G>C (p.Gly3092Arg)
5g.13753433C>TCA359191868DNAH5c.10672G>A (p.Gly3558Arg)
c.10627G>A (p.Gly3543Arg)
c.10780G>A (p.Gly3594Arg)
c.9685G>A (p.Gly3229Arg)
c.5869G>A (p.Gly1957Arg)
c.5422G>A (p.Gly1808Arg)
c.4759G>A (p.Gly1587Arg)
c.9274G>A (p.Gly3092Arg)
5g.13753434A>CCA359191881DNAH5c.10671T>G (p.Phe3557Leu)
c.10626T>G (p.Phe3542Leu)
c.10779T>G (p.Phe3593Leu)
c.9684T>G (p.Phe3228Leu)
c.5868T>G (p.Phe1956Leu)
c.5421T>G (p.Phe1807Leu)
c.4758T>G (p.Phe1586Leu)
c.9273T>G (p.Phe3091Leu)
5g.13753434A>GCA443535880DNAH5c.10671T>C (p.Phe3557=)
c.10626T>C (p.Phe3542=)
c.10779T>C (p.Phe3593=)
c.9684T>C (p.Phe3228=)
c.5868T>C (p.Phe1956=)
c.5421T>C (p.Phe1807=)
c.4758T>C (p.Phe1586=)
c.9273T>C (p.Phe3091=)
5g.13753434A>TCA359191884DNAH5c.10671T>A (p.Phe3557Leu)
c.10626T>A (p.Phe3542Leu)
c.10779T>A (p.Phe3593Leu)
c.9684T>A (p.Phe3228Leu)
c.5868T>A (p.Phe1956Leu)
c.5421T>A (p.Phe1807Leu)
c.4758T>A (p.Phe1586Leu)
c.9273T>A (p.Phe3091Leu)
5g.13753435_13753436dupCA1528423507DNAH5c.10670_10671dup (p.Gly3558LeufsTer5)
c.10625_10626dup (p.Gly3543LeufsTer5)
c.10778_10779dup (p.Gly3594LeufsTer5)
c.9683_9684dup (p.Gly3229LeufsTer5)
c.5867_5868dup (p.Gly1957LeufsTer5)
c.5420_5421dup (p.Gly1808LeufsTer5)
c.4757_4758dup (p.Gly1587LeufsTer5)
c.9272_9273dup (p.Gly3092LeufsTer5)
 dbSNP
5g.13753435A=CA1528423508DNAH5c.10670T= (p.Phe3557=)
c.10625T= (p.Phe3542=)
c.10778T= (p.Phe3593=)
c.9683T= (p.Phe3228=)
c.5867T= (p.Phe1956=)
c.5420T= (p.Phe1807=)
c.4757T= (p.Phe1586=)
c.9272T= (p.Phe3091=)
5g.13753435A>CCA359191888DNAH5c.10670T>G (p.Phe3557Cys)
c.10625T>G (p.Phe3542Cys)
c.10778T>G (p.Phe3593Cys)
c.9683T>G (p.Phe3228Cys)
c.5867T>G (p.Phe1956Cys)
c.5420T>G (p.Phe1807Cys)
c.4757T>G (p.Phe1586Cys)
c.9272T>G (p.Phe3091Cys)
5g.13753435A>GCA359191891DNAH5c.10670T>C (p.Phe3557Ser)
c.10625T>C (p.Phe3542Ser)
c.10778T>C (p.Phe3593Ser)
c.9683T>C (p.Phe3228Ser)
c.5867T>C (p.Phe1956Ser)
c.5420T>C (p.Phe1807Ser)
c.4757T>C (p.Phe1586Ser)
c.9272T>C (p.Phe3091Ser)
 dbSNP gnomAD v4
5g.13753435A>TCA359191894DNAH5c.10670T>A (p.Phe3557Tyr)
c.10625T>A (p.Phe3542Tyr)
c.10778T>A (p.Phe3593Tyr)
c.9683T>A (p.Phe3228Tyr)
c.5867T>A (p.Phe1956Tyr)
c.5420T>A (p.Phe1807Tyr)
c.4757T>A (p.Phe1586Tyr)
c.9272T>A (p.Phe3091Tyr)
5g.13753436A=CA1528423509DNAH5c.10669T= (p.Phe3557=)
c.10624T= (p.Phe3542=)
c.10777T= (p.Phe3593=)
c.9682T= (p.Phe3228=)
c.5866T= (p.Phe1956=)
c.5419T= (p.Phe1807=)
c.4756T= (p.Phe1586=)
c.9271T= (p.Phe3091=)
5g.13753436A>CCA359191899DNAH5c.10669T>G (p.Phe3557Val)
c.10624T>G (p.Phe3542Val)
c.10777T>G (p.Phe3593Val)
c.9682T>G (p.Phe3228Val)
c.5866T>G (p.Phe1956Val)
c.5419T>G (p.Phe1807Val)
c.4756T>G (p.Phe1586Val)
c.9271T>G (p.Phe3091Val)
5g.13753436A>GCA359191900DNAH5c.10669T>C (p.Phe3557Leu)
c.10624T>C (p.Phe3542Leu)
c.10777T>C (p.Phe3593Leu)
c.9682T>C (p.Phe3228Leu)
c.5866T>C (p.Phe1956Leu)
c.5419T>C (p.Phe1807Leu)
c.4756T>C (p.Phe1586Leu)
c.9271T>C (p.Phe3091Leu)
 dbSNP
5g.13753436A>TCA359191896DNAH5c.10669T>A (p.Phe3557Ile)
c.10624T>A (p.Phe3542Ile)
c.10777T>A (p.Phe3593Ile)
c.9682T>A (p.Phe3228Ile)
c.5866T>A (p.Phe1956Ile)
c.5419T>A (p.Phe1807Ile)
c.4756T>A (p.Phe1586Ile)
c.9271T>A (p.Phe3091Ile)
 gnomAD v4
5g.13753437T>ACA443535886DNAH5c.10668A>T (p.Pro3556=)
c.10623A>T (p.Pro3541=)
c.10776A>T (p.Pro3592=)
c.9681A>T (p.Pro3227=)
c.5865A>T (p.Pro1955=)
c.5418A>T (p.Pro1806=)
c.4755A>T (p.Pro1585=)
c.9270A>T (p.Pro3090=)
5g.13753437T>CCA443535887DNAH5c.10668A>G (p.Pro3556=)
c.10623A>G (p.Pro3541=)
c.10776A>G (p.Pro3592=)
c.9681A>G (p.Pro3227=)
c.5865A>G (p.Pro1955=)
c.5418A>G (p.Pro1806=)
c.4755A>G (p.Pro1585=)
c.9270A>G (p.Pro3090=)
5g.13753437T>GCA443535889DNAH5c.10668A>C (p.Pro3556=)
c.10623A>C (p.Pro3541=)
c.10776A>C (p.Pro3592=)
c.9681A>C (p.Pro3227=)
c.5865A>C (p.Pro1955=)
c.5418A>C (p.Pro1806=)
c.4755A>C (p.Pro1585=)
c.9270A>C (p.Pro3090=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13753437T=CA1528423510DNAH5c.10668A= (p.Pro3556=)
c.10623A= (p.Pro3541=)
c.10776A= (p.Pro3592=)
c.9681A= (p.Pro3227=)
c.5865A= (p.Pro1955=)
c.5418A= (p.Pro1806=)
c.4755A= (p.Pro1585=)
c.9270A= (p.Pro3090=)
5g.13753438G>ACA359191902DNAH5c.10667C>T (p.Pro3556Leu)
c.10622C>T (p.Pro3541Leu)
c.10775C>T (p.Pro3592Leu)
c.9680C>T (p.Pro3227Leu)
c.5864C>T (p.Pro1955Leu)
c.5417C>T (p.Pro1806Leu)
c.4754C>T (p.Pro1585Leu)
c.9269C>T (p.Pro3090Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13753438G>CCA359191904DNAH5c.10667C>G (p.Pro3556Arg)
c.10622C>G (p.Pro3541Arg)
c.10775C>G (p.Pro3592Arg)
c.9680C>G (p.Pro3227Arg)
c.5864C>G (p.Pro1955Arg)
c.5417C>G (p.Pro1806Arg)
c.4754C>G (p.Pro1585Arg)
c.9269C>G (p.Pro3090Arg)
5g.13753438G=CA1528423511DNAH5c.10667C= (p.Pro3556=)
c.10622C= (p.Pro3541=)
c.10775C= (p.Pro3592=)
c.9680C= (p.Pro3227=)
c.5864C= (p.Pro1955=)
c.5417C= (p.Pro1806=)
c.4754C= (p.Pro1585=)
c.9269C= (p.Pro3090=)
5g.13753438G>TCA359191907DNAH5c.10667C>A (p.Pro3556Gln)
c.10622C>A (p.Pro3541Gln)
c.10775C>A (p.Pro3592Gln)
c.9680C>A (p.Pro3227Gln)
c.5864C>A (p.Pro1955Gln)
c.5417C>A (p.Pro1806Gln)
c.4754C>A (p.Pro1585Gln)
c.9269C>A (p.Pro3090Gln)
5g.13753439G>ACA359191911DNAH5c.10666C>T (p.Pro3556Ser)
c.10621C>T (p.Pro3541Ser)
c.10774C>T (p.Pro3592Ser)
c.9679C>T (p.Pro3227Ser)
c.5863C>T (p.Pro1955Ser)
c.5416C>T (p.Pro1806Ser)
c.4753C>T (p.Pro1585Ser)
c.9268C>T (p.Pro3090Ser)
 COSMIC
5g.13753439G>CCA359191913DNAH5c.10666C>G (p.Pro3556Ala)
c.10621C>G (p.Pro3541Ala)
c.10774C>G (p.Pro3592Ala)
c.9679C>G (p.Pro3227Ala)
c.5863C>G (p.Pro1955Ala)
c.5416C>G (p.Pro1806Ala)
c.4753C>G (p.Pro1585Ala)
c.9268C>G (p.Pro3090Ala)
5g.13753439G>TCA359191916DNAH5c.10666C>A (p.Pro3556Thr)
c.10621C>A (p.Pro3541Thr)
c.10774C>A (p.Pro3592Thr)
c.9679C>A (p.Pro3227Thr)
c.5863C>A (p.Pro1955Thr)
c.5416C>A (p.Pro1806Thr)
c.4753C>A (p.Pro1585Thr)
c.9268C>A (p.Pro3090Thr)
5g.13753440A>CCA359191920DNAH5c.10665T>G (p.Ile3555Met)
c.10620T>G (p.Ile3540Met)
c.10773T>G (p.Ile3591Met)
c.9678T>G (p.Ile3226Met)
c.5862T>G (p.Ile1954Met)
c.5415T>G (p.Ile1805Met)
c.4752T>G (p.Ile1584Met)
c.9267T>G (p.Ile3089Met)
5g.13753440A>GCA443535894DNAH5c.10665T>C (p.Ile3555=)
c.10620T>C (p.Ile3540=)
c.10773T>C (p.Ile3591=)
c.9678T>C (p.Ile3226=)
c.5862T>C (p.Ile1954=)
c.5415T>C (p.Ile1805=)
c.4752T>C (p.Ile1584=)
c.9267T>C (p.Ile3089=)
 COSMIC
5g.13753440A>TCA443535895DNAH5c.10665T>A (p.Ile3555=)
c.10620T>A (p.Ile3540=)
c.10773T>A (p.Ile3591=)
c.9678T>A (p.Ile3226=)
c.5862T>A (p.Ile1954=)
c.5415T>A (p.Ile1805=)
c.4752T>A (p.Ile1584=)
c.9267T>A (p.Ile3089=)
5g.13753441A>CCA359191923DNAH5c.10664T>G (p.Ile3555Ser)
c.10619T>G (p.Ile3540Ser)
c.10772T>G (p.Ile3591Ser)
c.9677T>G (p.Ile3226Ser)
c.5861T>G (p.Ile1954Ser)
c.5414T>G (p.Ile1805Ser)
c.4751T>G (p.Ile1584Ser)
c.9266T>G (p.Ile3089Ser)
5g.13753441A>GCA359191925DNAH5c.10664T>C (p.Ile3555Thr)
c.10619T>C (p.Ile3540Thr)
c.10772T>C (p.Ile3591Thr)
c.9677T>C (p.Ile3226Thr)
c.5861T>C (p.Ile1954Thr)
c.5414T>C (p.Ile1805Thr)
c.4751T>C (p.Ile1584Thr)
c.9266T>C (p.Ile3089Thr)
5g.13753441A>TCA359191928DNAH5c.10664T>A (p.Ile3555Asn)
c.10619T>A (p.Ile3540Asn)
c.10772T>A (p.Ile3591Asn)
c.9677T>A (p.Ile3226Asn)
c.5861T>A (p.Ile1954Asn)
c.5414T>A (p.Ile1805Asn)
c.4751T>A (p.Ile1584Asn)
c.9266T>A (p.Ile3089Asn)
5g.13753442T>ACA359191931DNAH5c.10663A>T (p.Ile3555Phe)
c.10618A>T (p.Ile3540Phe)
c.10771A>T (p.Ile3591Phe)
c.9676A>T (p.Ile3226Phe)
c.5860A>T (p.Ile1954Phe)
c.5413A>T (p.Ile1805Phe)
c.4750A>T (p.Ile1584Phe)
c.9265A>T (p.Ile3089Phe)
5g.13753442T>CCA359191934DNAH5c.10663A>G (p.Ile3555Val)
c.10618A>G (p.Ile3540Val)
c.10771A>G (p.Ile3591Val)
c.9676A>G (p.Ile3226Val)
c.5860A>G (p.Ile1954Val)
c.5413A>G (p.Ile1805Val)
c.4750A>G (p.Ile1584Val)
c.9265A>G (p.Ile3089Val)
5g.13753442T>GCA359191936DNAH5c.10663A>C (p.Ile3555Leu)
c.10618A>C (p.Ile3540Leu)
c.10771A>C (p.Ile3591Leu)
c.9676A>C (p.Ile3226Leu)
c.5860A>C (p.Ile1954Leu)
c.5413A>C (p.Ile1805Leu)
c.4750A>C (p.Ile1584Leu)
c.9265A>C (p.Ile3089Leu)
5g.13753443T>ACA359191942DNAH5c.10662A>T (p.Lys3554Asn)
c.10617A>T (p.Lys3539Asn)
c.10770A>T (p.Lys3590Asn)
c.9675A>T (p.Lys3225Asn)
c.5859A>T (p.Lys1953Asn)
c.5412A>T (p.Lys1804Asn)
c.4749A>T (p.Lys1583Asn)
c.9264A>T (p.Lys3088Asn)
5g.13753443T>CCA443535896DNAH5c.10662A>G (p.Lys3554=)
c.10617A>G (p.Lys3539=)
c.10770A>G (p.Lys3590=)
c.9675A>G (p.Lys3225=)
c.5859A>G (p.Lys1953=)
c.5412A>G (p.Lys1804=)
c.4749A>G (p.Lys1583=)
c.9264A>G (p.Lys3088=)
 gnomAD v4
5g.13753443T>GCA359191939DNAH5c.10662A>C (p.Lys3554Asn)
c.10617A>C (p.Lys3539Asn)
c.10770A>C (p.Lys3590Asn)
c.9675A>C (p.Lys3225Asn)
c.5859A>C (p.Lys1953Asn)
c.5412A>C (p.Lys1804Asn)
c.4749A>C (p.Lys1583Asn)
c.9264A>C (p.Lys3088Asn)
5g.13753444T>ACA359191945DNAH5c.10661A>T (p.Lys3554Ile)
c.10616A>T (p.Lys3539Ile)
c.10769A>T (p.Lys3590Ile)
c.9674A>T (p.Lys3225Ile)
c.5858A>T (p.Lys1953Ile)
c.5411A>T (p.Lys1804Ile)
c.4748A>T (p.Lys1583Ile)
c.9263A>T (p.Lys3088Ile)
5g.13753444T>CCA359191947DNAH5c.10661A>G (p.Lys3554Arg)
c.10616A>G (p.Lys3539Arg)
c.10769A>G (p.Lys3590Arg)
c.9674A>G (p.Lys3225Arg)
c.5858A>G (p.Lys1953Arg)
c.5411A>G (p.Lys1804Arg)
c.4748A>G (p.Lys1583Arg)
c.9263A>G (p.Lys3088Arg)
5g.13753444T>GCA359191948DNAH5c.10661A>C (p.Lys3554Thr)
c.10616A>C (p.Lys3539Thr)
c.10769A>C (p.Lys3590Thr)
c.9674A>C (p.Lys3225Thr)
c.5858A>C (p.Lys1953Thr)
c.5411A>C (p.Lys1804Thr)
c.4748A>C (p.Lys1583Thr)
c.9263A>C (p.Lys3088Thr)
5g.13753445T>ACA359191950DNAH5c.10660A>T (p.Lys3554Ter)
c.10615A>T (p.Lys3539Ter)
c.10768A>T (p.Lys3590Ter)
c.9673A>T (p.Lys3225Ter)
c.5857A>T (p.Lys1953Ter)
c.5410A>T (p.Lys1804Ter)
c.4747A>T (p.Lys1583Ter)
c.9262A>T (p.Lys3088Ter)
5g.13753445T>CCA359191953DNAH5c.10660A>G (p.Lys3554Glu)
c.10615A>G (p.Lys3539Glu)
c.10768A>G (p.Lys3590Glu)
c.9673A>G (p.Lys3225Glu)
c.5857A>G (p.Lys1953Glu)
c.5410A>G (p.Lys1804Glu)
c.4747A>G (p.Lys1583Glu)
c.9262A>G (p.Lys3088Glu)
5g.13753445T>GCA359191956DNAH5c.10660A>C (p.Lys3554Gln)
c.10615A>C (p.Lys3539Gln)
c.10768A>C (p.Lys3590Gln)
c.9673A>C (p.Lys3225Gln)
c.5857A>C (p.Lys1953Gln)
c.5410A>C (p.Lys1804Gln)
c.4747A>C (p.Lys1583Gln)
c.9262A>C (p.Lys3088Gln)
5g.13753446C>ACA443535902DNAH5c.10659G>T (p.Arg3553=)
c.10614G>T (p.Arg3538=)
c.10767G>T (p.Arg3589=)
c.9672G>T (p.Arg3224=)
c.5856G>T (p.Arg1952=)
c.5409G>T (p.Arg1803=)
c.4746G>T (p.Arg1582=)
c.9261G>T (p.Arg3087=)
5g.13753446C=CA1528423512DNAH5c.10659G= (p.Arg3553=)
c.10614G= (p.Arg3538=)
c.10767G= (p.Arg3589=)
c.9672G= (p.Arg3224=)
c.5856G= (p.Arg1952=)
c.5409G= (p.Arg1803=)
c.4746G= (p.Arg1582=)
c.9261G= (p.Arg3087=)
5g.13753446C>GCA443535904DNAH5c.10659G>C (p.Arg3553=)
c.10614G>C (p.Arg3538=)
c.10767G>C (p.Arg3589=)
c.9672G>C (p.Arg3224=)
c.5856G>C (p.Arg1952=)
c.5409G>C (p.Arg1803=)
c.4746G>C (p.Arg1582=)
c.9261G>C (p.Arg3087=)
 ClinVar dbSNP gnomAD v4
5g.13753446C>TCA443535903DNAH5c.10659G>A (p.Arg3553=)
c.10614G>A (p.Arg3538=)
c.10767G>A (p.Arg3589=)
c.9672G>A (p.Arg3224=)
c.5856G>A (p.Arg1952=)
c.5409G>A (p.Arg1803=)
c.4746G>A (p.Arg1582=)
c.9261G>A (p.Arg3087=)
 COSMIC
5g.13753447C>ACA359191959DNAH5c.10658G>T (p.Arg3553Leu)
c.10613G>T (p.Arg3538Leu)
c.10766G>T (p.Arg3589Leu)
c.9671G>T (p.Arg3224Leu)
c.5855G>T (p.Arg1952Leu)
c.5408G>T (p.Arg1803Leu)
c.4745G>T (p.Arg1582Leu)
c.9260G>T (p.Arg3087Leu)
5g.13753447C=CA1528423513DNAH5c.10658G= (p.Arg3553=)
c.10613G= (p.Arg3538=)
c.10766G= (p.Arg3589=)
c.9671G= (p.Arg3224=)
c.5855G= (p.Arg1952=)
c.5408G= (p.Arg1803=)
c.4745G= (p.Arg1582=)
c.9260G= (p.Arg3087=)
5g.13753447C>GCA359191962DNAH5c.10658G>C (p.Arg3553Pro)
c.10613G>C (p.Arg3538Pro)
c.10766G>C (p.Arg3589Pro)
c.9671G>C (p.Arg3224Pro)
c.5855G>C (p.Arg1952Pro)
c.5408G>C (p.Arg1803Pro)
c.4745G>C (p.Arg1582Pro)
c.9260G>C (p.Arg3087Pro)
5g.13753447C>TCA3202158DNAH5c.10658G>A (p.Arg3553Gln)
c.10613G>A (p.Arg3538Gln)
c.10766G>A (p.Arg3589Gln)
c.9671G>A (p.Arg3224Gln)
c.5855G>A (p.Arg1952Gln)
c.5408G>A (p.Arg1803Gln)
c.4745G>A (p.Arg1582Gln)
c.9260G>A (p.Arg3087Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13753448G>ACA3202159DNAH5c.10657C>T (p.Arg3553Trp)
c.10612C>T (p.Arg3538Trp)
c.10765C>T (p.Arg3589Trp)
c.9670C>T (p.Arg3224Trp)
c.5854C>T (p.Arg1952Trp)
c.5407C>T (p.Arg1803Trp)
c.4744C>T (p.Arg1582Trp)
c.9259C>T (p.Arg3087Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13753448G>CCA359191969DNAH5c.10657C>G (p.Arg3553Gly)
c.10612C>G (p.Arg3538Gly)
c.10765C>G (p.Arg3589Gly)
c.9670C>G (p.Arg3224Gly)
c.5854C>G (p.Arg1952Gly)
c.5407C>G (p.Arg1803Gly)
c.4744C>G (p.Arg1582Gly)
c.9259C>G (p.Arg3087Gly)
5g.13753448G=CA1528423514DNAH5c.10657C= (p.Arg3553=)
c.10612C= (p.Arg3538=)
c.10765C= (p.Arg3589=)
c.9670C= (p.Arg3224=)
c.5854C= (p.Arg1952=)
c.5407C= (p.Arg1803=)
c.4744C= (p.Arg1582=)
c.9259C= (p.Arg3087=)
5g.13753448G>TCA443535906DNAH5c.10657C>A (p.Arg3553=)
c.10612C>A (p.Arg3538=)
c.10765C>A (p.Arg3589=)
c.9670C>A (p.Arg3224=)
c.5854C>A (p.Arg1952=)
c.5407C>A (p.Arg1803=)
c.4744C>A (p.Arg1582=)
c.9259C>A (p.Arg3087=)
5g.13753449G>ACA3202161DNAH5c.10656C>T (p.Ala3552=)
c.10611C>T (p.Ala3537=)
c.10764C>T (p.Ala3588=)
c.9669C>T (p.Ala3223=)
c.5853C>T (p.Ala1951=)
c.5406C>T (p.Ala1802=)
c.4743C>T (p.Ala1581=)
c.9258C>T (p.Ala3086=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753449G>CCA443535910DNAH5c.10656C>G (p.Ala3552=)
c.10611C>G (p.Ala3537=)
c.10764C>G (p.Ala3588=)
c.9669C>G (p.Ala3223=)
c.5853C>G (p.Ala1951=)
c.5406C>G (p.Ala1802=)
c.4743C>G (p.Ala1581=)
c.9258C>G (p.Ala3086=)
5g.13753449G=CA1528423515DNAH5c.10656C= (p.Ala3552=)
c.10611C= (p.Ala3537=)
c.10764C= (p.Ala3588=)
c.9669C= (p.Ala3223=)
c.5853C= (p.Ala1951=)
c.5406C= (p.Ala1802=)
c.4743C= (p.Ala1581=)
c.9258C= (p.Ala3086=)
5g.13753449G>TCA3202160DNAH5c.10656C>A (p.Ala3552=)
c.10611C>A (p.Ala3537=)
c.10764C>A (p.Ala3588=)
c.9669C>A (p.Ala3223=)
c.5853C>A (p.Ala1951=)
c.5406C>A (p.Ala1802=)
c.4743C>A (p.Ala1581=)
c.9258C>A (p.Ala3086=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753450G>ACA359191982DNAH5c.10655C>T (p.Ala3552Val)
c.10610C>T (p.Ala3537Val)
c.10763C>T (p.Ala3588Val)
c.9668C>T (p.Ala3223Val)
c.5852C>T (p.Ala1951Val)
c.5405C>T (p.Ala1802Val)
c.4742C>T (p.Ala1581Val)
c.9257C>T (p.Ala3086Val)
 dbSNP gnomAD v3 gnomAD v4
5g.13753450G>CCA359191979DNAH5c.10655C>G (p.Ala3552Gly)
c.10610C>G (p.Ala3537Gly)
c.10763C>G (p.Ala3588Gly)
c.9668C>G (p.Ala3223Gly)
c.5852C>G (p.Ala1951Gly)
c.5405C>G (p.Ala1802Gly)
c.4742C>G (p.Ala1581Gly)
c.9257C>G (p.Ala3086Gly)
5g.13753450G=CA1528423516DNAH5c.10655C= (p.Ala3552=)
c.10610C= (p.Ala3537=)
c.10763C= (p.Ala3588=)
c.9668C= (p.Ala3223=)
c.5852C= (p.Ala1951=)
c.5405C= (p.Ala1802=)
c.4742C= (p.Ala1581=)
c.9257C= (p.Ala3086=)
5g.13753450G>TCA359191977DNAH5c.10655C>A (p.Ala3552Asp)
c.10610C>A (p.Ala3537Asp)
c.10763C>A (p.Ala3588Asp)
c.9668C>A (p.Ala3223Asp)
c.5852C>A (p.Ala1951Asp)
c.5405C>A (p.Ala1802Asp)
c.4742C>A (p.Ala1581Asp)
c.9257C>A (p.Ala3086Asp)
5g.13753451C>ACA359191985DNAH5c.10654G>T (p.Ala3552Ser)
c.10609G>T (p.Ala3537Ser)
c.10762G>T (p.Ala3588Ser)
c.9667G>T (p.Ala3223Ser)
c.5851G>T (p.Ala1951Ser)
c.5404G>T (p.Ala1802Ser)
c.4741G>T (p.Ala1581Ser)
c.9256G>T (p.Ala3086Ser)
5g.13753451C>GCA359191988DNAH5c.10654G>C (p.Ala3552Pro)
c.10609G>C (p.Ala3537Pro)
c.10762G>C (p.Ala3588Pro)
c.9667G>C (p.Ala3223Pro)
c.5851G>C (p.Ala1951Pro)
c.5404G>C (p.Ala1802Pro)
c.4741G>C (p.Ala1581Pro)
c.9256G>C (p.Ala3086Pro)
5g.13753451C>TCA359191991DNAH5c.10654G>A (p.Ala3552Thr)
c.10609G>A (p.Ala3537Thr)
c.10762G>A (p.Ala3588Thr)
c.9667G>A (p.Ala3223Thr)
c.5851G>A (p.Ala1951Thr)
c.5404G>A (p.Ala1802Thr)
c.4741G>A (p.Ala1581Thr)
c.9256G>A (p.Ala3086Thr)
 COSMIC
5g.13753452T>ACA359191993DNAH5c.10653A>T (p.Lys3551Asn)
c.10608A>T (p.Lys3536Asn)
c.10761A>T (p.Lys3587Asn)
c.9666A>T (p.Lys3222Asn)
c.5850A>T (p.Lys1950Asn)
c.5403A>T (p.Lys1801Asn)
c.4740A>T (p.Lys1580Asn)
c.9255A>T (p.Lys3085Asn)
5g.13753452T>CCA443535916DNAH5c.10653A>G (p.Lys3551=)
c.10608A>G (p.Lys3536=)
c.10761A>G (p.Lys3587=)
c.9666A>G (p.Lys3222=)
c.5850A>G (p.Lys1950=)
c.5403A>G (p.Lys1801=)
c.4740A>G (p.Lys1580=)
c.9255A>G (p.Lys3085=)
5g.13753452T>GCA359191996DNAH5c.10653A>C (p.Lys3551Asn)
c.10608A>C (p.Lys3536Asn)
c.10761A>C (p.Lys3587Asn)
c.9666A>C (p.Lys3222Asn)
c.5850A>C (p.Lys1950Asn)
c.5403A>C (p.Lys1801Asn)
c.4740A>C (p.Lys1580Asn)
c.9255A>C (p.Lys3085Asn)
5g.13753453T>ACA359192002DNAH5c.10652A>T (p.Lys3551Ile)
c.10607A>T (p.Lys3536Ile)
c.10760A>T (p.Lys3587Ile)
c.9665A>T (p.Lys3222Ile)
c.5849A>T (p.Lys1950Ile)
c.5402A>T (p.Lys1801Ile)
c.4739A>T (p.Lys1580Ile)
c.9254A>T (p.Lys3085Ile)
5g.13753453T>CCA359192000DNAH5c.10652A>G (p.Lys3551Arg)
c.10607A>G (p.Lys3536Arg)
c.10760A>G (p.Lys3587Arg)
c.9665A>G (p.Lys3222Arg)
c.5849A>G (p.Lys1950Arg)
c.5402A>G (p.Lys1801Arg)
c.4739A>G (p.Lys1580Arg)
c.9254A>G (p.Lys3085Arg)
5g.13753453T>GCA359191998DNAH5c.10652A>C (p.Lys3551Thr)
c.10607A>C (p.Lys3536Thr)
c.10760A>C (p.Lys3587Thr)
c.9665A>C (p.Lys3222Thr)
c.5849A>C (p.Lys1950Thr)
c.5402A>C (p.Lys1801Thr)
c.4739A>C (p.Lys1580Thr)
c.9254A>C (p.Lys3085Thr)
5g.13753454T>ACA359192004DNAH5c.10651A>T (p.Lys3551Ter)
c.10606A>T (p.Lys3536Ter)
c.10759A>T (p.Lys3587Ter)
c.9664A>T (p.Lys3222Ter)
c.5848A>T (p.Lys1950Ter)
c.5401A>T (p.Lys1801Ter)
c.4738A>T (p.Lys1580Ter)
c.9253A>T (p.Lys3085Ter)
5g.13753454T>CCA359192006DNAH5c.10651A>G (p.Lys3551Glu)
c.10606A>G (p.Lys3536Glu)
c.10759A>G (p.Lys3587Glu)
c.9664A>G (p.Lys3222Glu)
c.5848A>G (p.Lys1950Glu)
c.5401A>G (p.Lys1801Glu)
c.4738A>G (p.Lys1580Glu)
c.9253A>G (p.Lys3085Glu)
5g.13753454T>GCA359192010DNAH5c.10651A>C (p.Lys3551Gln)
c.10606A>C (p.Lys3536Gln)
c.10759A>C (p.Lys3587Gln)
c.9664A>C (p.Lys3222Gln)
c.5848A>C (p.Lys1950Gln)
c.5401A>C (p.Lys1801Gln)
c.4738A>C (p.Lys1580Gln)
c.9253A>C (p.Lys3085Gln)
5g.13753455C>ACA359192013DNAH5c.10650G>T (p.Met3550Ile)
c.10605G>T (p.Met3535Ile)
c.10758G>T (p.Met3586Ile)
c.9663G>T (p.Met3221Ile)
c.5847G>T (p.Met1949Ile)
c.5400G>T (p.Met1800Ile)
c.4737G>T (p.Met1579Ile)
c.9252G>T (p.Met3084Ile)
5g.13753455C=CA1528423517DNAH5c.10650G= (p.Met3550=)
c.10605G= (p.Met3535=)
c.10758G= (p.Met3586=)
c.9663G= (p.Met3221=)
c.5847G= (p.Met1949=)
c.5400G= (p.Met1800=)
c.4737G= (p.Met1579=)
c.9252G= (p.Met3084=)
5g.13753455C>GCA359192014DNAH5c.10650G>C (p.Met3550Ile)
c.10605G>C (p.Met3535Ile)
c.10758G>C (p.Met3586Ile)
c.9663G>C (p.Met3221Ile)
c.5847G>C (p.Met1949Ile)
c.5400G>C (p.Met1800Ile)
c.4737G>C (p.Met1579Ile)
c.9252G>C (p.Met3084Ile)
5g.13753455C>TCA113919051DNAH5c.10650G>A (p.Met3550Ile)
c.10605G>A (p.Met3535Ile)
c.10758G>A (p.Met3586Ile)
c.9663G>A (p.Met3221Ile)
c.5847G>A (p.Met1949Ile)
c.5400G>A (p.Met1800Ile)
c.4737G>A (p.Met1579Ile)
c.9252G>A (p.Met3084Ile)
 dbSNP gnomAD v4 COSMIC
5g.13753456A=CA1528423518DNAH5c.10649T= (p.Met3550=)
c.10604T= (p.Met3535=)
c.10757T= (p.Met3586=)
c.9662T= (p.Met3221=)
c.5846T= (p.Met1949=)
c.5399T= (p.Met1800=)
c.4736T= (p.Met1579=)
c.9251T= (p.Met3084=)
5g.13753456A>CCA3202162DNAH5c.10649T>G (p.Met3550Arg)
c.10604T>G (p.Met3535Arg)
c.10757T>G (p.Met3586Arg)
c.9662T>G (p.Met3221Arg)
c.5846T>G (p.Met1949Arg)
c.5399T>G (p.Met1800Arg)
c.4736T>G (p.Met1579Arg)
c.9251T>G (p.Met3084Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753456A>GCA359192017DNAH5c.10649T>C (p.Met3550Thr)
c.10604T>C (p.Met3535Thr)
c.10757T>C (p.Met3586Thr)
c.9662T>C (p.Met3221Thr)
c.5846T>C (p.Met1949Thr)
c.5399T>C (p.Met1800Thr)
c.4736T>C (p.Met1579Thr)
c.9251T>C (p.Met3084Thr)
5g.13753456A>TCA359192019DNAH5c.10649T>A (p.Met3550Lys)
c.10604T>A (p.Met3535Lys)
c.10757T>A (p.Met3586Lys)
c.9662T>A (p.Met3221Lys)
c.5846T>A (p.Met1949Lys)
c.5399T>A (p.Met1800Lys)
c.4736T>A (p.Met1579Lys)
c.9251T>A (p.Met3084Lys)
5g.13753457T>ACA359192022DNAH5c.10648A>T (p.Met3550Leu)
c.10603A>T (p.Met3535Leu)
c.10756A>T (p.Met3586Leu)
c.9661A>T (p.Met3221Leu)
c.5845A>T (p.Met1949Leu)
c.5398A>T (p.Met1800Leu)
c.4735A>T (p.Met1579Leu)
c.9250A>T (p.Met3084Leu)
5g.13753457T>CCA359192023DNAH5c.10648A>G (p.Met3550Val)
c.10603A>G (p.Met3535Val)
c.10756A>G (p.Met3586Val)
c.9661A>G (p.Met3221Val)
c.5845A>G (p.Met1949Val)
c.5398A>G (p.Met1800Val)
c.4735A>G (p.Met1579Val)
c.9250A>G (p.Met3084Val)
5g.13753457T>GCA359192024DNAH5c.10648A>C (p.Met3550Leu)
c.10603A>C (p.Met3535Leu)
c.10756A>C (p.Met3586Leu)
c.9661A>C (p.Met3221Leu)
c.5845A>C (p.Met1949Leu)
c.5398A>C (p.Met1800Leu)
c.4735A>C (p.Met1579Leu)
c.9250A>C (p.Met3084Leu)
5g.13753459_13753463dupCA1528423519DNAH5c.10644_10648dup (p.Met3550ArgfsTer3)
c.10599_10603dup (p.Met3535ArgfsTer3)
c.10752_10756dup (p.Met3586ArgfsTer3)
c.9657_9661dup (p.Met3221ArgfsTer3)
c.5841_5845dup (p.Met1949ArgfsTer3)
c.5394_5398dup (p.Met1800ArgfsTer3)
c.4731_4735dup (p.Met1579ArgfsTer3)
c.9246_9250dup (p.Met3084ArgfsTer3)
 dbSNP
5g.13753458T>ACA359192026DNAH5c.10647A>T (p.Glu3549Asp)
c.10602A>T (p.Glu3534Asp)
c.10755A>T (p.Glu3585Asp)
c.9660A>T (p.Glu3220Asp)
c.5844A>T (p.Glu1948Asp)
c.5397A>T (p.Glu1799Asp)
c.4734A>T (p.Glu1578Asp)
c.9249A>T (p.Glu3083Asp)
5g.13753458T>CCA443535930DNAH5c.10647A>G (p.Glu3549=)
c.10602A>G (p.Glu3534=)
c.10755A>G (p.Glu3585=)
c.9660A>G (p.Glu3220=)
c.5844A>G (p.Glu1948=)
c.5397A>G (p.Glu1799=)
c.4734A>G (p.Glu1578=)
c.9249A>G (p.Glu3083=)
 gnomAD v4
5g.13753458T>GCA359192028DNAH5c.10647A>C (p.Glu3549Asp)
c.10602A>C (p.Glu3534Asp)
c.10755A>C (p.Glu3585Asp)
c.9660A>C (p.Glu3220Asp)
c.5844A>C (p.Glu1948Asp)
c.5397A>C (p.Glu1799Asp)
c.4734A>C (p.Glu1578Asp)
c.9249A>C (p.Glu3083Asp)
5g.13753459T>ACA359192030DNAH5c.10646A>T (p.Glu3549Val)
c.10601A>T (p.Glu3534Val)
c.10754A>T (p.Glu3585Val)
c.9659A>T (p.Glu3220Val)
c.5843A>T (p.Glu1948Val)
c.5396A>T (p.Glu1799Val)
c.4733A>T (p.Glu1578Val)
c.9248A>T (p.Glu3083Val)
5g.13753459T>CCA3202163DNAH5c.10646A>G (p.Glu3549Gly)
c.10601A>G (p.Glu3534Gly)
c.10754A>G (p.Glu3585Gly)
c.9659A>G (p.Glu3220Gly)
c.5843A>G (p.Glu1948Gly)
c.5396A>G (p.Glu1799Gly)
c.4733A>G (p.Glu1578Gly)
c.9248A>G (p.Glu3083Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753459T>GCA359192032DNAH5c.10646A>C (p.Glu3549Ala)
c.10601A>C (p.Glu3534Ala)
c.10754A>C (p.Glu3585Ala)
c.9659A>C (p.Glu3220Ala)
c.5843A>C (p.Glu1948Ala)
c.5396A>C (p.Glu1799Ala)
c.4733A>C (p.Glu1578Ala)
c.9248A>C (p.Glu3083Ala)
 gnomAD v4
5g.13753459T=CA1528423520DNAH5c.10646A= (p.Glu3549=)
c.10601A= (p.Glu3534=)
c.10754A= (p.Glu3585=)
c.9659A= (p.Glu3220=)
c.5843A= (p.Glu1948=)
c.5396A= (p.Glu1799=)
c.4733A= (p.Glu1578=)
c.9248A= (p.Glu3083=)
5g.13753460C>ACA359192033DNAH5c.10645G>T (p.Glu3549Ter)
c.10600G>T (p.Glu3534Ter)
c.10753G>T (p.Glu3585Ter)
c.9658G>T (p.Glu3220Ter)
c.5842G>T (p.Glu1948Ter)
c.5395G>T (p.Glu1799Ter)
c.4732G>T (p.Glu1578Ter)
c.9247G>T (p.Glu3083Ter)
5g.13753460C=CA1528423521DNAH5c.10645G= (p.Glu3549=)
c.10600G= (p.Glu3534=)
c.10753G= (p.Glu3585=)
c.9658G= (p.Glu3220=)
c.5842G= (p.Glu1948=)
c.5395G= (p.Glu1799=)
c.4732G= (p.Glu1578=)
c.9247G= (p.Glu3083=)
5g.13753460C>GCA359192034DNAH5c.10645G>C (p.Glu3549Gln)
c.10600G>C (p.Glu3534Gln)
c.10753G>C (p.Glu3585Gln)
c.9658G>C (p.Glu3220Gln)
c.5842G>C (p.Glu1948Gln)
c.5395G>C (p.Glu1799Gln)
c.4732G>C (p.Glu1578Gln)
c.9247G>C (p.Glu3083Gln)
5g.13753460C>TCA113919063DNAH5c.10645G>A (p.Glu3549Lys)
c.10600G>A (p.Glu3534Lys)
c.10753G>A (p.Glu3585Lys)
c.9658G>A (p.Glu3220Lys)
c.5842G>A (p.Glu1948Lys)
c.5395G>A (p.Glu1799Lys)
c.4732G>A (p.Glu1578Lys)
c.9247G>A (p.Glu3083Lys)
 dbSNP COSMIC
5g.13753461C>ACA359192037DNAH5c.10644G>T (p.Lys3548Asn)
c.10599G>T (p.Lys3533Asn)
c.10752G>T (p.Lys3584Asn)
c.9657G>T (p.Lys3219Asn)
c.5841G>T (p.Lys1947Asn)
c.5394G>T (p.Lys1798Asn)
c.4731G>T (p.Lys1577Asn)
c.9246G>T (p.Lys3082Asn)
5g.13753461C>GCA359192038DNAH5c.10644G>C (p.Lys3548Asn)
c.10599G>C (p.Lys3533Asn)
c.10752G>C (p.Lys3584Asn)
c.9657G>C (p.Lys3219Asn)
c.5841G>C (p.Lys1947Asn)
c.5394G>C (p.Lys1798Asn)
c.4731G>C (p.Lys1577Asn)
c.9246G>C (p.Lys3082Asn)
5g.13753461C>TCA443535938DNAH5c.10644G>A (p.Lys3548=)
c.10599G>A (p.Lys3533=)
c.10752G>A (p.Lys3584=)
c.9657G>A (p.Lys3219=)
c.5841G>A (p.Lys1947=)
c.5394G>A (p.Lys1798=)
c.4731G>A (p.Lys1577=)
c.9246G>A (p.Lys3082=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.13753462T>ACA359192040DNAH5c.10643A>T (p.Lys3548Met)
c.10598A>T (p.Lys3533Met)
c.10751A>T (p.Lys3584Met)
c.9656A>T (p.Lys3219Met)
c.5840A>T (p.Lys1947Met)
c.5393A>T (p.Lys1798Met)
c.4730A>T (p.Lys1577Met)
c.9245A>T (p.Lys3082Met)
5g.13753462T>CCA359192043DNAH5c.10643A>G (p.Lys3548Arg)
c.10598A>G (p.Lys3533Arg)
c.10751A>G (p.Lys3584Arg)
c.9656A>G (p.Lys3219Arg)
c.5840A>G (p.Lys1947Arg)
c.5393A>G (p.Lys1798Arg)
c.4730A>G (p.Lys1577Arg)
c.9245A>G (p.Lys3082Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.13753462T>GCA359192042DNAH5c.10643A>C (p.Lys3548Thr)
c.10598A>C (p.Lys3533Thr)
c.10751A>C (p.Lys3584Thr)
c.9656A>C (p.Lys3219Thr)
c.5840A>C (p.Lys1947Thr)
c.5393A>C (p.Lys1798Thr)
c.4730A>C (p.Lys1577Thr)
c.9245A>C (p.Lys3082Thr)
5g.13753462T=CA1528423522DNAH5c.10643A= (p.Lys3548=)
c.10598A= (p.Lys3533=)
c.10751A= (p.Lys3584=)
c.9656A= (p.Lys3219=)
c.5840A= (p.Lys1947=)
c.5393A= (p.Lys1798=)
c.4730A= (p.Lys1577=)
c.9245A= (p.Lys3082=)
5g.13753463T>ACA359192045DNAH5c.10642A>T (p.Lys3548Ter)
c.10597A>T (p.Lys3533Ter)
c.10750A>T (p.Lys3584Ter)
c.9655A>T (p.Lys3219Ter)
c.5839A>T (p.Lys1947Ter)
c.5392A>T (p.Lys1798Ter)
c.4729A>T (p.Lys1577Ter)
c.9244A>T (p.Lys3082Ter)
5g.13753463T>CCA359192047DNAH5c.10642A>G (p.Lys3548Glu)
c.10597A>G (p.Lys3533Glu)
c.10750A>G (p.Lys3584Glu)
c.9655A>G (p.Lys3219Glu)
c.5839A>G (p.Lys1947Glu)
c.5392A>G (p.Lys1798Glu)
c.4729A>G (p.Lys1577Glu)
c.9244A>G (p.Lys3082Glu)
5g.13753463T>GCA359192049DNAH5c.10642A>C (p.Lys3548Gln)
c.10597A>C (p.Lys3533Gln)
c.10750A>C (p.Lys3584Gln)
c.9655A>C (p.Lys3219Gln)
c.5839A>C (p.Lys1947Gln)
c.5392A>C (p.Lys1798Gln)
c.4729A>C (p.Lys1577Gln)
c.9244A>C (p.Lys3082Gln)
5g.13753464C>ACA443535943DNAH5c.10641G>T (p.Arg3547=)
c.10596G>T (p.Arg3532=)
c.10749G>T (p.Arg3583=)
c.9654G>T (p.Arg3218=)
c.5838G>T (p.Arg1946=)
c.5391G>T (p.Arg1797=)
c.4728G>T (p.Arg1576=)
c.9243G>T (p.Arg3081=)
5g.13753464C>GCA443535944DNAH5c.10641G>C (p.Arg3547=)
c.10596G>C (p.Arg3532=)
c.10749G>C (p.Arg3583=)
c.9654G>C (p.Arg3218=)
c.5838G>C (p.Arg1946=)
c.5391G>C (p.Arg1797=)
c.4728G>C (p.Arg1576=)
c.9243G>C (p.Arg3081=)
5g.13753464C>TCA443535945DNAH5c.10641G>A (p.Arg3547=)
c.10596G>A (p.Arg3532=)
c.10749G>A (p.Arg3583=)
c.9654G>A (p.Arg3218=)
c.5838G>A (p.Arg1946=)
c.5391G>A (p.Arg1797=)
c.4728G>A (p.Arg1576=)
c.9243G>A (p.Arg3081=)
 gnomAD v4

Number of alleles fetched