Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.195787033G>ACA349933678DNAH7c.10855C>T (p.His3619Tyr)
c.304C>T (p.His102Tyr)
c.10735C>T (p.His3579Tyr)
c.10717C>T (p.His3573Tyr)
c.10630C>T (p.His3544Tyr)
c.6499C>T (p.His2167Tyr)
c.5227C>T (p.His1743Tyr)
c.10582C>T (p.His3528Tyr)
 gnomAD v4
2g.195787033G>CCA349933679DNAH7c.10855C>G (p.His3619Asp)
c.304C>G (p.His102Asp)
c.10735C>G (p.His3579Asp)
c.10717C>G (p.His3573Asp)
c.10630C>G (p.His3544Asp)
c.6499C>G (p.His2167Asp)
c.5227C>G (p.His1743Asp)
c.10582C>G (p.His3528Asp)
2g.195787033G>TCA349933680DNAH7c.10855C>A (p.His3619Asn)
c.304C>A (p.His102Asn)
c.10735C>A (p.His3579Asn)
c.10717C>A (p.His3573Asn)
c.10630C>A (p.His3544Asn)
c.6499C>A (p.His2167Asn)
c.5227C>A (p.His1743Asn)
c.10582C>A (p.His3528Asn)
2g.195787034G>ACA430536679DNAH7c.10854C>T (p.Leu3618=)
c.303C>T (p.Leu101=)
c.10734C>T (p.Leu3578=)
c.10716C>T (p.Leu3572=)
c.10629C>T (p.Leu3543=)
c.6498C>T (p.Leu2166=)
c.5226C>T (p.Leu1742=)
c.10581C>T (p.Leu3527=)
2g.195787034G>CCA430536681DNAH7c.10854C>G (p.Leu3618=)
c.303C>G (p.Leu101=)
c.10734C>G (p.Leu3578=)
c.10716C>G (p.Leu3572=)
c.10629C>G (p.Leu3543=)
c.6498C>G (p.Leu2166=)
c.5226C>G (p.Leu1742=)
c.10581C>G (p.Leu3527=)
2g.195787034G>TCA430536683DNAH7c.10854C>A (p.Leu3618=)
c.303C>A (p.Leu101=)
c.10734C>A (p.Leu3578=)
c.10716C>A (p.Leu3572=)
c.10629C>A (p.Leu3543=)
c.6498C>A (p.Leu2166=)
c.5226C>A (p.Leu1742=)
c.10581C>A (p.Leu3527=)
2g.195787035A>CCA349933681DNAH7c.10853T>G (p.Leu3618Arg)
c.302T>G (p.Leu101Arg)
c.10733T>G (p.Leu3578Arg)
c.10715T>G (p.Leu3572Arg)
c.10628T>G (p.Leu3543Arg)
c.6497T>G (p.Leu2166Arg)
c.5225T>G (p.Leu1742Arg)
c.10580T>G (p.Leu3527Arg)
2g.195787035A>GCA349933682DNAH7c.10853T>C (p.Leu3618Pro)
c.302T>C (p.Leu101Pro)
c.10733T>C (p.Leu3578Pro)
c.10715T>C (p.Leu3572Pro)
c.10628T>C (p.Leu3543Pro)
c.6497T>C (p.Leu2166Pro)
c.5225T>C (p.Leu1742Pro)
c.10580T>C (p.Leu3527Pro)
2g.195787035A>TCA349933683DNAH7c.10853T>A (p.Leu3618His)
c.302T>A (p.Leu101His)
c.10733T>A (p.Leu3578His)
c.10715T>A (p.Leu3572His)
c.10628T>A (p.Leu3543His)
c.6497T>A (p.Leu2166His)
c.5225T>A (p.Leu1742His)
c.10580T>A (p.Leu3527His)
2g.195787036G>ACA349933684DNAH7c.10852C>T (p.Leu3618Phe)
c.301C>T (p.Leu101Phe)
c.10732C>T (p.Leu3578Phe)
c.10714C>T (p.Leu3572Phe)
c.10627C>T (p.Leu3543Phe)
c.6496C>T (p.Leu2166Phe)
c.5224C>T (p.Leu1742Phe)
c.10579C>T (p.Leu3527Phe)
 dbSNP COSMIC
2g.195787036G>CCA349933685DNAH7c.10852C>G (p.Leu3618Val)
c.301C>G (p.Leu101Val)
c.10732C>G (p.Leu3578Val)
c.10714C>G (p.Leu3572Val)
c.10627C>G (p.Leu3543Val)
c.6496C>G (p.Leu2166Val)
c.5224C>G (p.Leu1742Val)
c.10579C>G (p.Leu3527Val)
2g.195787036G=CA1318501752DNAH7c.10852C= (p.Leu3618=)
c.301C= (p.Leu101=)
c.10732C= (p.Leu3578=)
c.10714C= (p.Leu3572=)
c.10627C= (p.Leu3543=)
c.6496C= (p.Leu2166=)
c.5224C= (p.Leu1742=)
c.10579C= (p.Leu3527=)
2g.195787036G>TCA62726724DNAH7c.10852C>A (p.Leu3618Ile)
c.301C>A (p.Leu101Ile)
c.10732C>A (p.Leu3578Ile)
c.10714C>A (p.Leu3572Ile)
c.10627C>A (p.Leu3543Ile)
c.6496C>A (p.Leu2166Ile)
c.5224C>A (p.Leu1742Ile)
c.10579C>A (p.Leu3527Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787037C>ACA349933687DNAH7c.10851G>T (p.Gln3617His)
c.300G>T (p.Gln100His)
c.10731G>T (p.Gln3577His)
c.10713G>T (p.Gln3571His)
c.10626G>T (p.Gln3542His)
c.6495G>T (p.Gln2165His)
c.5223G>T (p.Gln1741His)
c.10578G>T (p.Gln3526His)
2g.195787037C>GCA349933686DNAH7c.10851G>C (p.Gln3617His)
c.300G>C (p.Gln100His)
c.10731G>C (p.Gln3577His)
c.10713G>C (p.Gln3571His)
c.10626G>C (p.Gln3542His)
c.6495G>C (p.Gln2165His)
c.5223G>C (p.Gln1741His)
c.10578G>C (p.Gln3526His)
2g.195787037C>TCA430536690DNAH7c.10851G>A (p.Gln3617=)
c.300G>A (p.Gln100=)
c.10731G>A (p.Gln3577=)
c.10713G>A (p.Gln3571=)
c.10626G>A (p.Gln3542=)
c.6495G>A (p.Gln2165=)
c.5223G>A (p.Gln1741=)
c.10578G>A (p.Gln3526=)
2g.195787038T>ACA349933688DNAH7c.10850A>T (p.Gln3617Leu)
c.299A>T (p.Gln100Leu)
c.10730A>T (p.Gln3577Leu)
c.10712A>T (p.Gln3571Leu)
c.10625A>T (p.Gln3542Leu)
c.6494A>T (p.Gln2165Leu)
c.5222A>T (p.Gln1741Leu)
c.10577A>T (p.Gln3526Leu)
2g.195787038T>CCA349933689DNAH7c.10850A>G (p.Gln3617Arg)
c.299A>G (p.Gln100Arg)
c.10730A>G (p.Gln3577Arg)
c.10712A>G (p.Gln3571Arg)
c.10625A>G (p.Gln3542Arg)
c.6494A>G (p.Gln2165Arg)
c.5222A>G (p.Gln1741Arg)
c.10577A>G (p.Gln3526Arg)
2g.195787038T>GCA349933690DNAH7c.10850A>C (p.Gln3617Pro)
c.299A>C (p.Gln100Pro)
c.10730A>C (p.Gln3577Pro)
c.10712A>C (p.Gln3571Pro)
c.10625A>C (p.Gln3542Pro)
c.6494A>C (p.Gln2165Pro)
c.5222A>C (p.Gln1741Pro)
c.10577A>C (p.Gln3526Pro)
2g.195787039G>ACA349933691DNAH7c.10849C>T (p.Gln3617Ter)
c.298C>T (p.Gln100Ter)
c.10729C>T (p.Gln3577Ter)
c.10711C>T (p.Gln3571Ter)
c.10624C>T (p.Gln3542Ter)
c.6493C>T (p.Gln2165Ter)
c.5221C>T (p.Gln1741Ter)
c.10576C>T (p.Gln3526Ter)
2g.195787039G>CCA349933692DNAH7c.10849C>G (p.Gln3617Glu)
c.298C>G (p.Gln100Glu)
c.10729C>G (p.Gln3577Glu)
c.10711C>G (p.Gln3571Glu)
c.10624C>G (p.Gln3542Glu)
c.6493C>G (p.Gln2165Glu)
c.5221C>G (p.Gln1741Glu)
c.10576C>G (p.Gln3526Glu)
2g.195787039G>TCA349933693DNAH7c.10849C>A (p.Gln3617Lys)
c.298C>A (p.Gln100Lys)
c.10729C>A (p.Gln3577Lys)
c.10711C>A (p.Gln3571Lys)
c.10624C>A (p.Gln3542Lys)
c.6493C>A (p.Gln2165Lys)
c.5221C>A (p.Gln1741Lys)
c.10576C>A (p.Gln3526Lys)
2g.195787040C>ACA349933694DNAH7c.10848G>T (p.Gln3616His)
c.297G>T (p.Gln99His)
c.10728G>T (p.Gln3576His)
c.10710G>T (p.Gln3570His)
c.10623G>T (p.Gln3541His)
c.6492G>T (p.Gln2164His)
c.5220G>T (p.Gln1740His)
c.10575G>T (p.Gln3525His)
 dbSNP gnomAD v2 gnomAD v4
2g.195787040C=CA1318501755DNAH7c.10848G= (p.Gln3616=)
c.297G= (p.Gln99=)
c.10728G= (p.Gln3576=)
c.10710G= (p.Gln3570=)
c.10623G= (p.Gln3541=)
c.6492G= (p.Gln2164=)
c.5220G= (p.Gln1740=)
c.10575G= (p.Gln3525=)
2g.195787040C>GCA349933695DNAH7c.10848G>C (p.Gln3616His)
c.297G>C (p.Gln99His)
c.10728G>C (p.Gln3576His)
c.10710G>C (p.Gln3570His)
c.10623G>C (p.Gln3541His)
c.6492G>C (p.Gln2164His)
c.5220G>C (p.Gln1740His)
c.10575G>C (p.Gln3525His)
2g.195787040C>TCA430536704DNAH7c.10848G>A (p.Gln3616=)
c.297G>A (p.Gln99=)
c.10728G>A (p.Gln3576=)
c.10710G>A (p.Gln3570=)
c.10623G>A (p.Gln3541=)
c.6492G>A (p.Gln2164=)
c.5220G>A (p.Gln1740=)
c.10575G>A (p.Gln3525=)
2g.195787041T>ACA349933696DNAH7c.10847A>T (p.Gln3616Leu)
c.296A>T (p.Gln99Leu)
c.10727A>T (p.Gln3576Leu)
c.10709A>T (p.Gln3570Leu)
c.10622A>T (p.Gln3541Leu)
c.6491A>T (p.Gln2164Leu)
c.5219A>T (p.Gln1740Leu)
c.10574A>T (p.Gln3525Leu)
2g.195787041T>CCA349933697DNAH7c.10847A>G (p.Gln3616Arg)
c.296A>G (p.Gln99Arg)
c.10727A>G (p.Gln3576Arg)
c.10709A>G (p.Gln3570Arg)
c.10622A>G (p.Gln3541Arg)
c.6491A>G (p.Gln2164Arg)
c.5219A>G (p.Gln1740Arg)
c.10574A>G (p.Gln3525Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.195787041T>GCA349933698DNAH7c.10847A>C (p.Gln3616Pro)
c.296A>C (p.Gln99Pro)
c.10727A>C (p.Gln3576Pro)
c.10709A>C (p.Gln3570Pro)
c.10622A>C (p.Gln3541Pro)
c.6491A>C (p.Gln2164Pro)
c.5219A>C (p.Gln1740Pro)
c.10574A>C (p.Gln3525Pro)
2g.195787041T=CA1318501761DNAH7c.10847A= (p.Gln3616=)
c.296A= (p.Gln99=)
c.10727A= (p.Gln3576=)
c.10709A= (p.Gln3570=)
c.10622A= (p.Gln3541=)
c.6491A= (p.Gln2164=)
c.5219A= (p.Gln1740=)
c.10574A= (p.Gln3525=)
2g.195787042G>ACA349933701DNAH7c.10846C>T (p.Gln3616Ter)
c.295C>T (p.Gln99Ter)
c.10726C>T (p.Gln3576Ter)
c.10708C>T (p.Gln3570Ter)
c.10621C>T (p.Gln3541Ter)
c.6490C>T (p.Gln2164Ter)
c.5218C>T (p.Gln1740Ter)
c.10573C>T (p.Gln3525Ter)
 dbSNP gnomAD v4
2g.195787042G>CCA349933700DNAH7c.10846C>G (p.Gln3616Glu)
c.295C>G (p.Gln99Glu)
c.10726C>G (p.Gln3576Glu)
c.10708C>G (p.Gln3570Glu)
c.10621C>G (p.Gln3541Glu)
c.6490C>G (p.Gln2164Glu)
c.5218C>G (p.Gln1740Glu)
c.10573C>G (p.Gln3525Glu)
 gnomAD v3 gnomAD v4
2g.195787042G>TCA349933699DNAH7c.10846C>A (p.Gln3616Lys)
c.295C>A (p.Gln99Lys)
c.10726C>A (p.Gln3576Lys)
c.10708C>A (p.Gln3570Lys)
c.10621C>A (p.Gln3541Lys)
c.6490C>A (p.Gln2164Lys)
c.5218C>A (p.Gln1740Lys)
c.10573C>A (p.Gln3525Lys)
2g.195787043T>ACA430536713DNAH7c.10845A>T (p.Val3615=)
c.294A>T (p.Val98=)
c.10725A>T (p.Val3575=)
c.10707A>T (p.Val3569=)
c.10620A>T (p.Val3540=)
c.6489A>T (p.Val2163=)
c.5217A>T (p.Val1739=)
c.10572A>T (p.Val3524=)
2g.195787043T>CCA2033937DNAH7c.10845A>G (p.Val3615=)
c.294A>G (p.Val98=)
c.10725A>G (p.Val3575=)
c.10707A>G (p.Val3569=)
c.10620A>G (p.Val3540=)
c.6489A>G (p.Val2163=)
c.5217A>G (p.Val1739=)
c.10572A>G (p.Val3524=)
 dbSNP ExAC gnomAD v2
2g.195787043T>GCA430536720DNAH7c.10845A>C (p.Val3615=)
c.294A>C (p.Val98=)
c.10725A>C (p.Val3575=)
c.10707A>C (p.Val3569=)
c.10620A>C (p.Val3540=)
c.6489A>C (p.Val2163=)
c.5217A>C (p.Val1739=)
c.10572A>C (p.Val3524=)
2g.195787043T=CA1318501798DNAH7c.10845A= (p.Val3615=)
c.294A= (p.Val98=)
c.10725A= (p.Val3575=)
c.10707A= (p.Val3569=)
c.10620A= (p.Val3540=)
c.6489A= (p.Val2163=)
c.5217A= (p.Val1739=)
c.10572A= (p.Val3524=)
2g.195787044A>CCA349933702DNAH7c.10844T>G (p.Val3615Gly)
c.293T>G (p.Val98Gly)
c.10724T>G (p.Val3575Gly)
c.10706T>G (p.Val3569Gly)
c.10619T>G (p.Val3540Gly)
c.6488T>G (p.Val2163Gly)
c.5216T>G (p.Val1739Gly)
c.10571T>G (p.Val3524Gly)
2g.195787044A>GCA349933703DNAH7c.10844T>C (p.Val3615Ala)
c.293T>C (p.Val98Ala)
c.10724T>C (p.Val3575Ala)
c.10706T>C (p.Val3569Ala)
c.10619T>C (p.Val3540Ala)
c.6488T>C (p.Val2163Ala)
c.5216T>C (p.Val1739Ala)
c.10571T>C (p.Val3524Ala)
2g.195787044A>TCA349933704DNAH7c.10844T>A (p.Val3615Glu)
c.293T>A (p.Val98Glu)
c.10724T>A (p.Val3575Glu)
c.10706T>A (p.Val3569Glu)
c.10619T>A (p.Val3540Glu)
c.6488T>A (p.Val2163Glu)
c.5216T>A (p.Val1739Glu)
c.10571T>A (p.Val3524Glu)
2g.195787045C>ACA349933705DNAH7c.10843G>T (p.Val3615Leu)
c.292G>T (p.Val98Leu)
c.10723G>T (p.Val3575Leu)
c.10705G>T (p.Val3569Leu)
c.10618G>T (p.Val3540Leu)
c.6487G>T (p.Val2163Leu)
c.5215G>T (p.Val1739Leu)
c.10570G>T (p.Val3524Leu)
2g.195787045C=CA1318501804DNAH7c.10843G= (p.Val3615=)
c.292G= (p.Val98=)
c.10723G= (p.Val3575=)
c.10705G= (p.Val3569=)
c.10618G= (p.Val3540=)
c.6487G= (p.Val2163=)
c.5215G= (p.Val1739=)
c.10570G= (p.Val3524=)
2g.195787045C>GCA349933706DNAH7c.10843G>C (p.Val3615Leu)
c.292G>C (p.Val98Leu)
c.10723G>C (p.Val3575Leu)
c.10705G>C (p.Val3569Leu)
c.10618G>C (p.Val3540Leu)
c.6487G>C (p.Val2163Leu)
c.5215G>C (p.Val1739Leu)
c.10570G>C (p.Val3524Leu)
2g.195787045C>TCA2033938DNAH7c.10843G>A (p.Val3615Ile)
c.292G>A (p.Val98Ile)
c.10723G>A (p.Val3575Ile)
c.10705G>A (p.Val3569Ile)
c.10618G>A (p.Val3540Ile)
c.6487G>A (p.Val2163Ile)
c.5215G>A (p.Val1739Ile)
c.10570G>A (p.Val3524Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.195787046G>ACA2033939DNAH7c.10842C>T (p.Ser3614=)
c.291C>T (p.Ser97=)
c.10722C>T (p.Ser3574=)
c.10704C>T (p.Ser3568=)
c.10617C>T (p.Ser3539=)
c.6486C>T (p.Ser2162=)
c.5214C>T (p.Ser1738=)
c.10569C>T (p.Ser3523=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787046G>CCA349933707DNAH7c.10842C>G (p.Ser3614Arg)
c.291C>G (p.Ser97Arg)
c.10722C>G (p.Ser3574Arg)
c.10704C>G (p.Ser3568Arg)
c.10617C>G (p.Ser3539Arg)
c.6486C>G (p.Ser2162Arg)
c.5214C>G (p.Ser1738Arg)
c.10569C>G (p.Ser3523Arg)
2g.195787046G=CA1318501811DNAH7c.10842C= (p.Ser3614=)
c.291C= (p.Ser97=)
c.10722C= (p.Ser3574=)
c.10704C= (p.Ser3568=)
c.10617C= (p.Ser3539=)
c.6486C= (p.Ser2162=)
c.5214C= (p.Ser1738=)
c.10569C= (p.Ser3523=)
2g.195787046G>TCA349933708DNAH7c.10842C>A (p.Ser3614Arg)
c.291C>A (p.Ser97Arg)
c.10722C>A (p.Ser3574Arg)
c.10704C>A (p.Ser3568Arg)
c.10617C>A (p.Ser3539Arg)
c.6486C>A (p.Ser2162Arg)
c.5214C>A (p.Ser1738Arg)
c.10569C>A (p.Ser3523Arg)
2g.195787047C>ACA349933709DNAH7c.10841G>T (p.Ser3614Ile)
c.290G>T (p.Ser97Ile)
c.10721G>T (p.Ser3574Ile)
c.10703G>T (p.Ser3568Ile)
c.10616G>T (p.Ser3539Ile)
c.6485G>T (p.Ser2162Ile)
c.5213G>T (p.Ser1738Ile)
c.10568G>T (p.Ser3523Ile)
2g.195787047C>GCA349933710DNAH7c.10841G>C (p.Ser3614Thr)
c.290G>C (p.Ser97Thr)
c.10721G>C (p.Ser3574Thr)
c.10703G>C (p.Ser3568Thr)
c.10616G>C (p.Ser3539Thr)
c.6485G>C (p.Ser2162Thr)
c.5213G>C (p.Ser1738Thr)
c.10568G>C (p.Ser3523Thr)
2g.195787047C>TCA349933711DNAH7c.10841G>A (p.Ser3614Asn)
c.290G>A (p.Ser97Asn)
c.10721G>A (p.Ser3574Asn)
c.10703G>A (p.Ser3568Asn)
c.10616G>A (p.Ser3539Asn)
c.6485G>A (p.Ser2162Asn)
c.5213G>A (p.Ser1738Asn)
c.10568G>A (p.Ser3523Asn)
2g.195787048T>ACA349933714DNAH7c.10840A>T (p.Ser3614Cys)
c.289A>T (p.Ser97Cys)
c.10720A>T (p.Ser3574Cys)
c.10702A>T (p.Ser3568Cys)
c.10615A>T (p.Ser3539Cys)
c.6484A>T (p.Ser2162Cys)
c.5212A>T (p.Ser1738Cys)
c.10567A>T (p.Ser3523Cys)
2g.195787048T>CCA349933712DNAH7c.10840A>G (p.Ser3614Gly)
c.289A>G (p.Ser97Gly)
c.10720A>G (p.Ser3574Gly)
c.10702A>G (p.Ser3568Gly)
c.10615A>G (p.Ser3539Gly)
c.6484A>G (p.Ser2162Gly)
c.5212A>G (p.Ser1738Gly)
c.10567A>G (p.Ser3523Gly)
 gnomAD v4
2g.195787048T>GCA349933713DNAH7c.10840A>C (p.Ser3614Arg)
c.289A>C (p.Ser97Arg)
c.10720A>C (p.Ser3574Arg)
c.10702A>C (p.Ser3568Arg)
c.10615A>C (p.Ser3539Arg)
c.6484A>C (p.Ser2162Arg)
c.5212A>C (p.Ser1738Arg)
c.10567A>C (p.Ser3523Arg)
2g.195787049G>ACA430536742DNAH7c.10839C>T (p.Ile3613=)
c.288C>T (p.Ile96=)
c.10719C>T (p.Ile3573=)
c.10701C>T (p.Ile3567=)
c.10614C>T (p.Ile3538=)
c.6483C>T (p.Ile2161=)
c.5211C>T (p.Ile1737=)
c.10566C>T (p.Ile3522=)
2g.195787049G>CCA349933715DNAH7c.10839C>G (p.Ile3613Met)
c.288C>G (p.Ile96Met)
c.10719C>G (p.Ile3573Met)
c.10701C>G (p.Ile3567Met)
c.10614C>G (p.Ile3538Met)
c.6483C>G (p.Ile2161Met)
c.5211C>G (p.Ile1737Met)
c.10566C>G (p.Ile3522Met)
2g.195787049G>TCA430536746DNAH7c.10839C>A (p.Ile3613=)
c.288C>A (p.Ile96=)
c.10719C>A (p.Ile3573=)
c.10701C>A (p.Ile3567=)
c.10614C>A (p.Ile3538=)
c.6483C>A (p.Ile2161=)
c.5211C>A (p.Ile1737=)
c.10566C>A (p.Ile3522=)
2g.195787050A>CCA349933716DNAH7c.10838T>G (p.Ile3613Ser)
c.287T>G (p.Ile96Ser)
c.10718T>G (p.Ile3573Ser)
c.10700T>G (p.Ile3567Ser)
c.10613T>G (p.Ile3538Ser)
c.6482T>G (p.Ile2161Ser)
c.5210T>G (p.Ile1737Ser)
c.10565T>G (p.Ile3522Ser)
2g.195787050A>GCA349933717DNAH7c.10838T>C (p.Ile3613Thr)
c.287T>C (p.Ile96Thr)
c.10718T>C (p.Ile3573Thr)
c.10700T>C (p.Ile3567Thr)
c.10613T>C (p.Ile3538Thr)
c.6482T>C (p.Ile2161Thr)
c.5210T>C (p.Ile1737Thr)
c.10565T>C (p.Ile3522Thr)
2g.195787050A>TCA349933718DNAH7c.10838T>A (p.Ile3613Asn)
c.287T>A (p.Ile96Asn)
c.10718T>A (p.Ile3573Asn)
c.10700T>A (p.Ile3567Asn)
c.10613T>A (p.Ile3538Asn)
c.6482T>A (p.Ile2161Asn)
c.5210T>A (p.Ile1737Asn)
c.10565T>A (p.Ile3522Asn)
2g.195787051T>ACA349933719DNAH7c.10837A>T (p.Ile3613Phe)
c.286A>T (p.Ile96Phe)
c.10717A>T (p.Ile3573Phe)
c.10699A>T (p.Ile3567Phe)
c.10612A>T (p.Ile3538Phe)
c.6481A>T (p.Ile2161Phe)
c.5209A>T (p.Ile1737Phe)
c.10564A>T (p.Ile3522Phe)
2g.195787051T>CCA2033940DNAH7c.10837A>G (p.Ile3613Val)
c.286A>G (p.Ile96Val)
c.10717A>G (p.Ile3573Val)
c.10699A>G (p.Ile3567Val)
c.10612A>G (p.Ile3538Val)
c.6481A>G (p.Ile2161Val)
c.5209A>G (p.Ile1737Val)
c.10564A>G (p.Ile3522Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787051T>GCA349933720DNAH7c.10837A>C (p.Ile3613Leu)
c.286A>C (p.Ile96Leu)
c.10717A>C (p.Ile3573Leu)
c.10699A>C (p.Ile3567Leu)
c.10612A>C (p.Ile3538Leu)
c.6481A>C (p.Ile2161Leu)
c.5209A>C (p.Ile1737Leu)
c.10564A>C (p.Ile3522Leu)
2g.195787051T=CA1318501818DNAH7c.10837A= (p.Ile3613=)
c.286A= (p.Ile96=)
c.10717A= (p.Ile3573=)
c.10699A= (p.Ile3567=)
c.10612A= (p.Ile3538=)
c.6481A= (p.Ile2161=)
c.5209A= (p.Ile1737=)
c.10564A= (p.Ile3522=)
2g.195787052T>ACA349933721DNAH7c.10836A>T (p.Arg3612Ser)
c.285A>T (p.Arg95Ser)
c.10716A>T (p.Arg3572Ser)
c.10698A>T (p.Arg3566Ser)
c.10611A>T (p.Arg3537Ser)
c.6480A>T (p.Arg2160Ser)
c.5208A>T (p.Arg1736Ser)
c.10563A>T (p.Arg3521Ser)
2g.195787052T>CCA430536760DNAH7c.10836A>G (p.Arg3612=)
c.285A>G (p.Arg95=)
c.10716A>G (p.Arg3572=)
c.10698A>G (p.Arg3566=)
c.10611A>G (p.Arg3537=)
c.6480A>G (p.Arg2160=)
c.5208A>G (p.Arg1736=)
c.10563A>G (p.Arg3521=)
2g.195787052T>GCA349933722DNAH7c.10836A>C (p.Arg3612Ser)
c.285A>C (p.Arg95Ser)
c.10716A>C (p.Arg3572Ser)
c.10698A>C (p.Arg3566Ser)
c.10611A>C (p.Arg3537Ser)
c.6480A>C (p.Arg2160Ser)
c.5208A>C (p.Arg1736Ser)
c.10563A>C (p.Arg3521Ser)
2g.195787053C>ACA349933723DNAH7c.10835G>T (p.Arg3612Ile)
c.284G>T (p.Arg95Ile)
c.10715G>T (p.Arg3572Ile)
c.10697G>T (p.Arg3566Ile)
c.10610G>T (p.Arg3537Ile)
c.6479G>T (p.Arg2160Ile)
c.5207G>T (p.Arg1736Ile)
c.10562G>T (p.Arg3521Ile)
2g.195787053C=CA1318501827DNAH7c.10835G= (p.Arg3612=)
c.284G= (p.Arg95=)
c.10715G= (p.Arg3572=)
c.10697G= (p.Arg3566=)
c.10610G= (p.Arg3537=)
c.6479G= (p.Arg2160=)
c.5207G= (p.Arg1736=)
c.10562G= (p.Arg3521=)
2g.195787053C>GCA349933724DNAH7c.10835G>C (p.Arg3612Thr)
c.284G>C (p.Arg95Thr)
c.10715G>C (p.Arg3572Thr)
c.10697G>C (p.Arg3566Thr)
c.10610G>C (p.Arg3537Thr)
c.6479G>C (p.Arg2160Thr)
c.5207G>C (p.Arg1736Thr)
c.10562G>C (p.Arg3521Thr)
2g.195787053C>TCA349933725DNAH7c.10835G>A (p.Arg3612Lys)
c.284G>A (p.Arg95Lys)
c.10715G>A (p.Arg3572Lys)
c.10697G>A (p.Arg3566Lys)
c.10610G>A (p.Arg3537Lys)
c.6479G>A (p.Arg2160Lys)
c.5207G>A (p.Arg1736Lys)
c.10562G>A (p.Arg3521Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787054T>ACA349933726DNAH7c.10834A>T (p.Arg3612Ter)
c.283A>T (p.Arg95Ter)
c.10714A>T (p.Arg3572Ter)
c.10696A>T (p.Arg3566Ter)
c.10609A>T (p.Arg3537Ter)
c.6478A>T (p.Arg2160Ter)
c.5206A>T (p.Arg1736Ter)
c.10561A>T (p.Arg3521Ter)
2g.195787054T>CCA349933727DNAH7c.10834A>G (p.Arg3612Gly)
c.283A>G (p.Arg95Gly)
c.10714A>G (p.Arg3572Gly)
c.10696A>G (p.Arg3566Gly)
c.10609A>G (p.Arg3537Gly)
c.6478A>G (p.Arg2160Gly)
c.5206A>G (p.Arg1736Gly)
c.10561A>G (p.Arg3521Gly)
2g.195787054T>GCA430536770DNAH7c.10834A>C (p.Arg3612=)
c.283A>C (p.Arg95=)
c.10714A>C (p.Arg3572=)
c.10696A>C (p.Arg3566=)
c.10609A>C (p.Arg3537=)
c.6478A>C (p.Arg2160=)
c.5206A>C (p.Arg1736=)
c.10561A>C (p.Arg3521=)
2g.195787055C>ACA430536772DNAH7c.10833G>T (p.Leu3611=)
c.282G>T (p.Leu94=)
c.10713G>T (p.Leu3571=)
c.10695G>T (p.Leu3565=)
c.10608G>T (p.Leu3536=)
c.6477G>T (p.Leu2159=)
c.5205G>T (p.Leu1735=)
c.10560G>T (p.Leu3520=)
2g.195787055C=CA1318501831DNAH7c.10833G= (p.Leu3611=)
c.282G= (p.Leu94=)
c.10713G= (p.Leu3571=)
c.10695G= (p.Leu3565=)
c.10608G= (p.Leu3536=)
c.6477G= (p.Leu2159=)
c.5205G= (p.Leu1735=)
c.10560G= (p.Leu3520=)
2g.195787055C>GCA430536774DNAH7c.10833G>C (p.Leu3611=)
c.282G>C (p.Leu94=)
c.10713G>C (p.Leu3571=)
c.10695G>C (p.Leu3565=)
c.10608G>C (p.Leu3536=)
c.6477G>C (p.Leu2159=)
c.5205G>C (p.Leu1735=)
c.10560G>C (p.Leu3520=)
2g.195787055C>TCA430536776DNAH7c.10833G>A (p.Leu3611=)
c.282G>A (p.Leu94=)
c.10713G>A (p.Leu3571=)
c.10695G>A (p.Leu3565=)
c.10608G>A (p.Leu3536=)
c.6477G>A (p.Leu2159=)
c.5205G>A (p.Leu1735=)
c.10560G>A (p.Leu3520=)
 dbSNP gnomAD v2 gnomAD v4
2g.195787056A>CCA349933728DNAH7c.10832T>G (p.Leu3611Arg)
c.281T>G (p.Leu94Arg)
c.10712T>G (p.Leu3571Arg)
c.10694T>G (p.Leu3565Arg)
c.10607T>G (p.Leu3536Arg)
c.6476T>G (p.Leu2159Arg)
c.5204T>G (p.Leu1735Arg)
c.10559T>G (p.Leu3520Arg)
2g.195787056A>GCA349933730DNAH7c.10832T>C (p.Leu3611Pro)
c.281T>C (p.Leu94Pro)
c.10712T>C (p.Leu3571Pro)
c.10694T>C (p.Leu3565Pro)
c.10607T>C (p.Leu3536Pro)
c.6476T>C (p.Leu2159Pro)
c.5204T>C (p.Leu1735Pro)
c.10559T>C (p.Leu3520Pro)
 gnomAD v4
2g.195787056A>TCA349933729DNAH7c.10832T>A (p.Leu3611Gln)
c.281T>A (p.Leu94Gln)
c.10712T>A (p.Leu3571Gln)
c.10694T>A (p.Leu3565Gln)
c.10607T>A (p.Leu3536Gln)
c.6476T>A (p.Leu2159Gln)
c.5204T>A (p.Leu1735Gln)
c.10559T>A (p.Leu3520Gln)
 gnomAD v4
2g.195787057G>ACA430536787DNAH7c.10831C>T (p.Leu3611=)
c.280C>T (p.Leu94=)
c.10711C>T (p.Leu3571=)
c.10693C>T (p.Leu3565=)
c.10606C>T (p.Leu3536=)
c.6475C>T (p.Leu2159=)
c.5203C>T (p.Leu1735=)
c.10558C>T (p.Leu3520=)
2g.195787057G>CCA349933731DNAH7c.10831C>G (p.Leu3611Val)
c.280C>G (p.Leu94Val)
c.10711C>G (p.Leu3571Val)
c.10693C>G (p.Leu3565Val)
c.10606C>G (p.Leu3536Val)
c.6475C>G (p.Leu2159Val)
c.5203C>G (p.Leu1735Val)
c.10558C>G (p.Leu3520Val)
2g.195787057G>TCA349933732DNAH7c.10831C>A (p.Leu3611Met)
c.280C>A (p.Leu94Met)
c.10711C>A (p.Leu3571Met)
c.10693C>A (p.Leu3565Met)
c.10606C>A (p.Leu3536Met)
c.6475C>A (p.Leu2159Met)
c.5203C>A (p.Leu1735Met)
c.10558C>A (p.Leu3520Met)
2g.195787058A>CCA349933733DNAH7c.10830T>G (p.Asp3610Glu)
c.279T>G (p.Asp93Glu)
c.10710T>G (p.Asp3570Glu)
c.10692T>G (p.Asp3564Glu)
c.10605T>G (p.Asp3535Glu)
c.6474T>G (p.Asp2158Glu)
c.5202T>G (p.Asp1734Glu)
c.10557T>G (p.Asp3519Glu)
2g.195787058A>GCA430536791DNAH7c.10830T>C (p.Asp3610=)
c.279T>C (p.Asp93=)
c.10710T>C (p.Asp3570=)
c.10692T>C (p.Asp3564=)
c.10605T>C (p.Asp3535=)
c.6474T>C (p.Asp2158=)
c.5202T>C (p.Asp1734=)
c.10557T>C (p.Asp3519=)
 gnomAD v4
2g.195787058A>TCA349933734DNAH7c.10830T>A (p.Asp3610Glu)
c.279T>A (p.Asp93Glu)
c.10710T>A (p.Asp3570Glu)
c.10692T>A (p.Asp3564Glu)
c.10605T>A (p.Asp3535Glu)
c.6474T>A (p.Asp2158Glu)
c.5202T>A (p.Asp1734Glu)
c.10557T>A (p.Asp3519Glu)
2g.195787059T>ACA349933735DNAH7c.10829A>T (p.Asp3610Val)
c.278A>T (p.Asp93Val)
c.10709A>T (p.Asp3570Val)
c.10691A>T (p.Asp3564Val)
c.10604A>T (p.Asp3535Val)
c.6473A>T (p.Asp2158Val)
c.5201A>T (p.Asp1734Val)
c.10556A>T (p.Asp3519Val)
2g.195787059T>CCA349933736DNAH7c.10829A>G (p.Asp3610Gly)
c.278A>G (p.Asp93Gly)
c.10709A>G (p.Asp3570Gly)
c.10691A>G (p.Asp3564Gly)
c.10604A>G (p.Asp3535Gly)
c.6473A>G (p.Asp2158Gly)
c.5201A>G (p.Asp1734Gly)
c.10556A>G (p.Asp3519Gly)
2g.195787059T>GCA349933737DNAH7c.10829A>C (p.Asp3610Ala)
c.278A>C (p.Asp93Ala)
c.10709A>C (p.Asp3570Ala)
c.10691A>C (p.Asp3564Ala)
c.10604A>C (p.Asp3535Ala)
c.6473A>C (p.Asp2158Ala)
c.5201A>C (p.Asp1734Ala)
c.10556A>C (p.Asp3519Ala)
2g.195787060C>ACA349933738DNAH7c.10828G>T (p.Asp3610Tyr)
c.277G>T (p.Asp93Tyr)
c.10708G>T (p.Asp3570Tyr)
c.10690G>T (p.Asp3564Tyr)
c.10603G>T (p.Asp3535Tyr)
c.6472G>T (p.Asp2158Tyr)
c.5200G>T (p.Asp1734Tyr)
c.10555G>T (p.Asp3519Tyr)
2g.195787060C=CA1318501835DNAH7c.10828G= (p.Asp3610=)
c.277G= (p.Asp93=)
c.10708G= (p.Asp3570=)
c.10690G= (p.Asp3564=)
c.10603G= (p.Asp3535=)
c.6472G= (p.Asp2158=)
c.5200G= (p.Asp1734=)
c.10555G= (p.Asp3519=)
2g.195787060C>GCA349933739DNAH7c.10828G>C (p.Asp3610His)
c.277G>C (p.Asp93His)
c.10708G>C (p.Asp3570His)
c.10690G>C (p.Asp3564His)
c.10603G>C (p.Asp3535His)
c.6472G>C (p.Asp2158His)
c.5200G>C (p.Asp1734His)
c.10555G>C (p.Asp3519His)
2g.195787060C>TCA349933740DNAH7c.10828G>A (p.Asp3610Asn)
c.277G>A (p.Asp93Asn)
c.10708G>A (p.Asp3570Asn)
c.10690G>A (p.Asp3564Asn)
c.10603G>A (p.Asp3535Asn)
c.6472G>A (p.Asp2158Asn)
c.5200G>A (p.Asp1734Asn)
c.10555G>A (p.Asp3519Asn)
 dbSNP gnomAD v4
2g.195787061T>ACA430536803DNAH7c.10827A>T (p.Thr3609=)
c.276A>T (p.Thr92=)
c.10707A>T (p.Thr3569=)
c.10689A>T (p.Thr3563=)
c.10602A>T (p.Thr3534=)
c.6471A>T (p.Thr2157=)
c.5199A>T (p.Thr1733=)
c.10554A>T (p.Thr3518=)
2g.195787061T>CCA430536805DNAH7c.10827A>G (p.Thr3609=)
c.276A>G (p.Thr92=)
c.10707A>G (p.Thr3569=)
c.10689A>G (p.Thr3563=)
c.10602A>G (p.Thr3534=)
c.6471A>G (p.Thr2157=)
c.5199A>G (p.Thr1733=)
c.10554A>G (p.Thr3518=)
 dbSNP gnomAD v4
2g.195787061T>GCA430536807DNAH7c.10827A>C (p.Thr3609=)
c.276A>C (p.Thr92=)
c.10707A>C (p.Thr3569=)
c.10689A>C (p.Thr3563=)
c.10602A>C (p.Thr3534=)
c.6471A>C (p.Thr2157=)
c.5199A>C (p.Thr1733=)
c.10554A>C (p.Thr3518=)
2g.195787061T=CA1318501838DNAH7c.10827A= (p.Thr3609=)
c.276A= (p.Thr92=)
c.10707A= (p.Thr3569=)
c.10689A= (p.Thr3563=)
c.10602A= (p.Thr3534=)
c.6471A= (p.Thr2157=)
c.5199A= (p.Thr1733=)
c.10554A= (p.Thr3518=)
2g.195787062G>ACA349933741DNAH7c.10826C>T (p.Thr3609Ile)
c.275C>T (p.Thr92Ile)
c.10706C>T (p.Thr3569Ile)
c.10688C>T (p.Thr3563Ile)
c.10601C>T (p.Thr3534Ile)
c.6470C>T (p.Thr2157Ile)
c.5198C>T (p.Thr1733Ile)
c.10553C>T (p.Thr3518Ile)
 gnomAD v4 COSMIC
2g.195787062G>CCA349933742DNAH7c.10826C>G (p.Thr3609Arg)
c.275C>G (p.Thr92Arg)
c.10706C>G (p.Thr3569Arg)
c.10688C>G (p.Thr3563Arg)
c.10601C>G (p.Thr3534Arg)
c.6470C>G (p.Thr2157Arg)
c.5198C>G (p.Thr1733Arg)
c.10553C>G (p.Thr3518Arg)
2g.195787062G>TCA349933743DNAH7c.10826C>A (p.Thr3609Lys)
c.275C>A (p.Thr92Lys)
c.10706C>A (p.Thr3569Lys)
c.10688C>A (p.Thr3563Lys)
c.10601C>A (p.Thr3534Lys)
c.6470C>A (p.Thr2157Lys)
c.5198C>A (p.Thr1733Lys)
c.10553C>A (p.Thr3518Lys)
2g.195787063T>ACA349933746DNAH7c.10825A>T (p.Thr3609Ser)
c.274A>T (p.Thr92Ser)
c.10705A>T (p.Thr3569Ser)
c.10687A>T (p.Thr3563Ser)
c.10600A>T (p.Thr3534Ser)
c.6469A>T (p.Thr2157Ser)
c.5197A>T (p.Thr1733Ser)
c.10552A>T (p.Thr3518Ser)
2g.195787063T>CCA349933745DNAH7c.10825A>G (p.Thr3609Ala)
c.274A>G (p.Thr92Ala)
c.10705A>G (p.Thr3569Ala)
c.10687A>G (p.Thr3563Ala)
c.10600A>G (p.Thr3534Ala)
c.6469A>G (p.Thr2157Ala)
c.5197A>G (p.Thr1733Ala)
c.10552A>G (p.Thr3518Ala)
2g.195787063T>GCA349933744DNAH7c.10825A>C (p.Thr3609Pro)
c.274A>C (p.Thr92Pro)
c.10705A>C (p.Thr3569Pro)
c.10687A>C (p.Thr3563Pro)
c.10600A>C (p.Thr3534Pro)
c.6469A>C (p.Thr2157Pro)
c.5197A>C (p.Thr1733Pro)
c.10552A>C (p.Thr3518Pro)
2g.195787064C>ACA349933747DNAH7c.10824G>T (p.Glu3608Asp)
c.273G>T (p.Glu91Asp)
c.10704G>T (p.Glu3568Asp)
c.10686G>T (p.Glu3562Asp)
c.10599G>T (p.Glu3533Asp)
c.6468G>T (p.Glu2156Asp)
c.5196G>T (p.Glu1732Asp)
c.10551G>T (p.Glu3517Asp)
2g.195787064C>GCA349933748DNAH7c.10824G>C (p.Glu3608Asp)
c.273G>C (p.Glu91Asp)
c.10704G>C (p.Glu3568Asp)
c.10686G>C (p.Glu3562Asp)
c.10599G>C (p.Glu3533Asp)
c.6468G>C (p.Glu2156Asp)
c.5196G>C (p.Glu1732Asp)
c.10551G>C (p.Glu3517Asp)
2g.195787064C>TCA430536819DNAH7c.10824G>A (p.Glu3608=)
c.273G>A (p.Glu91=)
c.10704G>A (p.Glu3568=)
c.10686G>A (p.Glu3562=)
c.10599G>A (p.Glu3533=)
c.6468G>A (p.Glu2156=)
c.5196G>A (p.Glu1732=)
c.10551G>A (p.Glu3517=)
2g.195787065T>ACA349933749DNAH7c.10823A>T (p.Glu3608Val)
c.272A>T (p.Glu91Val)
c.10703A>T (p.Glu3568Val)
c.10685A>T (p.Glu3562Val)
c.10598A>T (p.Glu3533Val)
c.6467A>T (p.Glu2156Val)
c.5195A>T (p.Glu1732Val)
c.10550A>T (p.Glu3517Val)
2g.195787065T>CCA349933750DNAH7c.10823A>G (p.Glu3608Gly)
c.272A>G (p.Glu91Gly)
c.10703A>G (p.Glu3568Gly)
c.10685A>G (p.Glu3562Gly)
c.10598A>G (p.Glu3533Gly)
c.6467A>G (p.Glu2156Gly)
c.5195A>G (p.Glu1732Gly)
c.10550A>G (p.Glu3517Gly)
2g.195787065T>GCA349933751DNAH7c.10823A>C (p.Glu3608Ala)
c.272A>C (p.Glu91Ala)
c.10703A>C (p.Glu3568Ala)
c.10685A>C (p.Glu3562Ala)
c.10598A>C (p.Glu3533Ala)
c.6467A>C (p.Glu2156Ala)
c.5195A>C (p.Glu1732Ala)
c.10550A>C (p.Glu3517Ala)
2g.195787066C>ACA349933752DNAH7c.10822G>T (p.Glu3608Ter)
c.271G>T (p.Glu91Ter)
c.10702G>T (p.Glu3568Ter)
c.10684G>T (p.Glu3562Ter)
c.10597G>T (p.Glu3533Ter)
c.6466G>T (p.Glu2156Ter)
c.5194G>T (p.Glu1732Ter)
c.10549G>T (p.Glu3517Ter)
2g.195787066C>GCA349933753DNAH7c.10822G>C (p.Glu3608Gln)
c.271G>C (p.Glu91Gln)
c.10702G>C (p.Glu3568Gln)
c.10684G>C (p.Glu3562Gln)
c.10597G>C (p.Glu3533Gln)
c.6466G>C (p.Glu2156Gln)
c.5194G>C (p.Glu1732Gln)
c.10549G>C (p.Glu3517Gln)
2g.195787066C>TCA349933754DNAH7c.10822G>A (p.Glu3608Lys)
c.271G>A (p.Glu91Lys)
c.10702G>A (p.Glu3568Lys)
c.10684G>A (p.Glu3562Lys)
c.10597G>A (p.Glu3533Lys)
c.6466G>A (p.Glu2156Lys)
c.5194G>A (p.Glu1732Lys)
c.10549G>A (p.Glu3517Lys)
 gnomAD v4
2g.195787067A>CCA349933755DNAH7c.10821T>G (p.Asn3607Lys)
c.270T>G (p.Asn90Lys)
c.10701T>G (p.Asn3567Lys)
c.10683T>G (p.Asn3561Lys)
c.10596T>G (p.Asn3532Lys)
c.6465T>G (p.Asn2155Lys)
c.5193T>G (p.Asn1731Lys)
c.10548T>G (p.Asn3516Lys)
2g.195787067A>GCA430536834DNAH7c.10821T>C (p.Asn3607=)
c.270T>C (p.Asn90=)
c.10701T>C (p.Asn3567=)
c.10683T>C (p.Asn3561=)
c.10596T>C (p.Asn3532=)
c.6465T>C (p.Asn2155=)
c.5193T>C (p.Asn1731=)
c.10548T>C (p.Asn3516=)
2g.195787067A>TCA349933756DNAH7c.10821T>A (p.Asn3607Lys)
c.270T>A (p.Asn90Lys)
c.10701T>A (p.Asn3567Lys)
c.10683T>A (p.Asn3561Lys)
c.10596T>A (p.Asn3532Lys)
c.6465T>A (p.Asn2155Lys)
c.5193T>A (p.Asn1731Lys)
c.10548T>A (p.Asn3516Lys)
2g.195787068T>ACA349933757DNAH7c.10820A>T (p.Asn3607Ile)
c.269A>T (p.Asn90Ile)
c.10700A>T (p.Asn3567Ile)
c.10682A>T (p.Asn3561Ile)
c.10595A>T (p.Asn3532Ile)
c.6464A>T (p.Asn2155Ile)
c.5192A>T (p.Asn1731Ile)
c.10547A>T (p.Asn3516Ile)
2g.195787068T>CCA2033941DNAH7c.10820A>G (p.Asn3607Ser)
c.269A>G (p.Asn90Ser)
c.10700A>G (p.Asn3567Ser)
c.10682A>G (p.Asn3561Ser)
c.10595A>G (p.Asn3532Ser)
c.6464A>G (p.Asn2155Ser)
c.5192A>G (p.Asn1731Ser)
c.10547A>G (p.Asn3516Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787068T>GCA349933758DNAH7c.10820A>C (p.Asn3607Thr)
c.269A>C (p.Asn90Thr)
c.10700A>C (p.Asn3567Thr)
c.10682A>C (p.Asn3561Thr)
c.10595A>C (p.Asn3532Thr)
c.6464A>C (p.Asn2155Thr)
c.5192A>C (p.Asn1731Thr)
c.10547A>C (p.Asn3516Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.195787068T=CA1318501843DNAH7c.10820A= (p.Asn3607=)
c.269A= (p.Asn90=)
c.10700A= (p.Asn3567=)
c.10682A= (p.Asn3561=)
c.10595A= (p.Asn3532=)
c.6464A= (p.Asn2155=)
c.5192A= (p.Asn1731=)
c.10547A= (p.Asn3516=)
2g.195787069T>ACA349933760DNAH7c.10819A>T (p.Asn3607Tyr)
c.268A>T (p.Asn90Tyr)
c.10699A>T (p.Asn3567Tyr)
c.10681A>T (p.Asn3561Tyr)
c.10594A>T (p.Asn3532Tyr)
c.6463A>T (p.Asn2155Tyr)
c.5191A>T (p.Asn1731Tyr)
c.10546A>T (p.Asn3516Tyr)
2g.195787069T>CCA2033942DNAH7c.10819A>G (p.Asn3607Asp)
c.268A>G (p.Asn90Asp)
c.10699A>G (p.Asn3567Asp)
c.10681A>G (p.Asn3561Asp)
c.10594A>G (p.Asn3532Asp)
c.6463A>G (p.Asn2155Asp)
c.5191A>G (p.Asn1731Asp)
c.10546A>G (p.Asn3516Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787069T>GCA349933759DNAH7c.10819A>C (p.Asn3607His)
c.268A>C (p.Asn90His)
c.10699A>C (p.Asn3567His)
c.10681A>C (p.Asn3561His)
c.10594A>C (p.Asn3532His)
c.6463A>C (p.Asn2155His)
c.5191A>C (p.Asn1731His)
c.10546A>C (p.Asn3516His)
2g.195787069T=CA1318501849DNAH7c.10819A= (p.Asn3607=)
c.268A= (p.Asn90=)
c.10699A= (p.Asn3567=)
c.10681A= (p.Asn3561=)
c.10594A= (p.Asn3532=)
c.6463A= (p.Asn2155=)
c.5191A= (p.Asn1731=)
c.10546A= (p.Asn3516=)
2g.195787070G>ACA430536846DNAH7c.10818C>T (p.Phe3606=)
c.267C>T (p.Phe89=)
c.10698C>T (p.Phe3566=)
c.10680C>T (p.Phe3560=)
c.10593C>T (p.Phe3531=)
c.6462C>T (p.Phe2154=)
c.5190C>T (p.Phe1730=)
c.10545C>T (p.Phe3515=)
2g.195787070G>CCA349933762DNAH7c.10818C>G (p.Phe3606Leu)
c.267C>G (p.Phe89Leu)
c.10698C>G (p.Phe3566Leu)
c.10680C>G (p.Phe3560Leu)
c.10593C>G (p.Phe3531Leu)
c.6462C>G (p.Phe2154Leu)
c.5190C>G (p.Phe1730Leu)
c.10545C>G (p.Phe3515Leu)
2g.195787070G>TCA349933761DNAH7c.10818C>A (p.Phe3606Leu)
c.267C>A (p.Phe89Leu)
c.10698C>A (p.Phe3566Leu)
c.10680C>A (p.Phe3560Leu)
c.10593C>A (p.Phe3531Leu)
c.6462C>A (p.Phe2154Leu)
c.5190C>A (p.Phe1730Leu)
c.10545C>A (p.Phe3515Leu)
2g.195787071A=CA1318501857DNAH7c.10817T= (p.Phe3606=)
c.266T= (p.Phe89=)
c.10697T= (p.Phe3566=)
c.10679T= (p.Phe3560=)
c.10592T= (p.Phe3531=)
c.6461T= (p.Phe2154=)
c.5189T= (p.Phe1730=)
c.10544T= (p.Phe3515=)
2g.195787071A>CCA349933763DNAH7c.10817T>G (p.Phe3606Cys)
c.266T>G (p.Phe89Cys)
c.10697T>G (p.Phe3566Cys)
c.10679T>G (p.Phe3560Cys)
c.10592T>G (p.Phe3531Cys)
c.6461T>G (p.Phe2154Cys)
c.5189T>G (p.Phe1730Cys)
c.10544T>G (p.Phe3515Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787071A>GCA349933764DNAH7c.10817T>C (p.Phe3606Ser)
c.266T>C (p.Phe89Ser)
c.10697T>C (p.Phe3566Ser)
c.10679T>C (p.Phe3560Ser)
c.10592T>C (p.Phe3531Ser)
c.6461T>C (p.Phe2154Ser)
c.5189T>C (p.Phe1730Ser)
c.10544T>C (p.Phe3515Ser)
2g.195787071A>TCA349933765DNAH7c.10817T>A (p.Phe3606Tyr)
c.266T>A (p.Phe89Tyr)
c.10697T>A (p.Phe3566Tyr)
c.10679T>A (p.Phe3560Tyr)
c.10592T>A (p.Phe3531Tyr)
c.6461T>A (p.Phe2154Tyr)
c.5189T>A (p.Phe1730Tyr)
c.10544T>A (p.Phe3515Tyr)
2g.195787072A=CA1318501861DNAH7c.10816T= (p.Phe3606=)
c.265T= (p.Phe89=)
c.10696T= (p.Phe3566=)
c.10678T= (p.Phe3560=)
c.10591T= (p.Phe3531=)
c.6460T= (p.Phe2154=)
c.5188T= (p.Phe1730=)
c.10543T= (p.Phe3515=)
2g.195787072A>CCA349933766DNAH7c.10816T>G (p.Phe3606Val)
c.265T>G (p.Phe89Val)
c.10696T>G (p.Phe3566Val)
c.10678T>G (p.Phe3560Val)
c.10591T>G (p.Phe3531Val)
c.6460T>G (p.Phe2154Val)
c.5188T>G (p.Phe1730Val)
c.10543T>G (p.Phe3515Val)
2g.195787072A>GCA349933767DNAH7c.10816T>C (p.Phe3606Leu)
c.265T>C (p.Phe89Leu)
c.10696T>C (p.Phe3566Leu)
c.10678T>C (p.Phe3560Leu)
c.10591T>C (p.Phe3531Leu)
c.6460T>C (p.Phe2154Leu)
c.5188T>C (p.Phe1730Leu)
c.10543T>C (p.Phe3515Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787072A>TCA349933768DNAH7c.10816T>A (p.Phe3606Ile)
c.265T>A (p.Phe89Ile)
c.10696T>A (p.Phe3566Ile)
c.10678T>A (p.Phe3560Ile)
c.10591T>A (p.Phe3531Ile)
c.6460T>A (p.Phe2154Ile)
c.5188T>A (p.Phe1730Ile)
c.10543T>A (p.Phe3515Ile)
2g.195787073C>ACA349933769DNAH7c.10815G>T (p.Glu3605Asp)
c.264G>T (p.Glu88Asp)
c.10695G>T (p.Glu3565Asp)
c.10677G>T (p.Glu3559Asp)
c.10590G>T (p.Glu3530Asp)
c.6459G>T (p.Glu2153Asp)
c.5187G>T (p.Glu1729Asp)
c.10542G>T (p.Glu3514Asp)
2g.195787073C=CA1318501870DNAH7c.10815G= (p.Glu3605=)
c.264G= (p.Glu88=)
c.10695G= (p.Glu3565=)
c.10677G= (p.Glu3559=)
c.10590G= (p.Glu3530=)
c.6459G= (p.Glu2153=)
c.5187G= (p.Glu1729=)
c.10542G= (p.Glu3514=)
2g.195787073C>GCA62726805DNAH7c.10815G>C (p.Glu3605Asp)
c.264G>C (p.Glu88Asp)
c.10695G>C (p.Glu3565Asp)
c.10677G>C (p.Glu3559Asp)
c.10590G>C (p.Glu3530Asp)
c.6459G>C (p.Glu2153Asp)
c.5187G>C (p.Glu1729Asp)
c.10542G>C (p.Glu3514Asp)
 dbSNP
2g.195787073C>TCA2033943DNAH7c.10815G>A (p.Glu3605=)
c.264G>A (p.Glu88=)
c.10695G>A (p.Glu3565=)
c.10677G>A (p.Glu3559=)
c.10590G>A (p.Glu3530=)
c.6459G>A (p.Glu2153=)
c.5187G>A (p.Glu1729=)
c.10542G>A (p.Glu3514=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787073_195787074insCAGCA1318501874DNAH7c.10814_10815insCTG (p.Glu3605delinsAspTrp)
c.263_264insCTG (p.Glu88delinsAspTrp)
c.10694_10695insCTG (p.Glu3565delinsAspTrp)
c.10676_10677insCTG (p.Glu3559delinsAspTrp)
c.10589_10590insCTG (p.Glu3530delinsAspTrp)
c.6458_6459insCTG (p.Glu2153delinsAspTrp)
c.5186_5187insCTG (p.Glu1729delinsAspTrp)
c.10541_10542insCTG (p.Glu3514delinsAspTrp)
 dbSNP
2g.195787074T>ACA349933770DNAH7c.10814A>T (p.Glu3605Val)
c.263A>T (p.Glu88Val)
c.10694A>T (p.Glu3565Val)
c.10676A>T (p.Glu3559Val)
c.10589A>T (p.Glu3530Val)
c.6458A>T (p.Glu2153Val)
c.5186A>T (p.Glu1729Val)
c.10541A>T (p.Glu3514Val)
2g.195787074T>CCA349933771DNAH7c.10814A>G (p.Glu3605Gly)
c.263A>G (p.Glu88Gly)
c.10694A>G (p.Glu3565Gly)
c.10676A>G (p.Glu3559Gly)
c.10589A>G (p.Glu3530Gly)
c.6458A>G (p.Glu2153Gly)
c.5186A>G (p.Glu1729Gly)
c.10541A>G (p.Glu3514Gly)
2g.195787074T>GCA349933772DNAH7c.10814A>C (p.Glu3605Ala)
c.263A>C (p.Glu88Ala)
c.10694A>C (p.Glu3565Ala)
c.10676A>C (p.Glu3559Ala)
c.10589A>C (p.Glu3530Ala)
c.6458A>C (p.Glu2153Ala)
c.5186A>C (p.Glu1729Ala)
c.10541A>C (p.Glu3514Ala)
2g.195787075C>ACA349933775DNAH7c.10813G>T (p.Glu3605Ter)
c.262G>T (p.Glu88Ter)
c.10693G>T (p.Glu3565Ter)
c.10675G>T (p.Glu3559Ter)
c.10588G>T (p.Glu3530Ter)
c.6457G>T (p.Glu2153Ter)
c.5185G>T (p.Glu1729Ter)
c.10540G>T (p.Glu3514Ter)
 dbSNP
2g.195787075C=CA1318501876DNAH7c.10813G= (p.Glu3605=)
c.262G= (p.Glu88=)
c.10693G= (p.Glu3565=)
c.10675G= (p.Glu3559=)
c.10588G= (p.Glu3530=)
c.6457G= (p.Glu2153=)
c.5185G= (p.Glu1729=)
c.10540G= (p.Glu3514=)
2g.195787075C>GCA349933773DNAH7c.10813G>C (p.Glu3605Gln)
c.262G>C (p.Glu88Gln)
c.10693G>C (p.Glu3565Gln)
c.10675G>C (p.Glu3559Gln)
c.10588G>C (p.Glu3530Gln)
c.6457G>C (p.Glu2153Gln)
c.5185G>C (p.Glu1729Gln)
c.10540G>C (p.Glu3514Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.195787075C>TCA349933774DNAH7c.10813G>A (p.Glu3605Lys)
c.262G>A (p.Glu88Lys)
c.10693G>A (p.Glu3565Lys)
c.10675G>A (p.Glu3559Lys)
c.10588G>A (p.Glu3530Lys)
c.6457G>A (p.Glu2153Lys)
c.5185G>A (p.Glu1729Lys)
c.10540G>A (p.Glu3514Lys)
2g.195787076A=CA1318501881DNAH7c.10812T= (p.Tyr3604=)
c.261T= (p.Tyr87=)
c.10692T= (p.Tyr3564=)
c.10674T= (p.Tyr3558=)
c.10587T= (p.Tyr3529=)
c.6456T= (p.Tyr2152=)
c.5184T= (p.Tyr1728=)
c.10539T= (p.Tyr3513=)
2g.195787076A>CCA349933776DNAH7c.10812T>G (p.Tyr3604Ter)
c.261T>G (p.Tyr87Ter)
c.10692T>G (p.Tyr3564Ter)
c.10674T>G (p.Tyr3558Ter)
c.10587T>G (p.Tyr3529Ter)
c.6456T>G (p.Tyr2152Ter)
c.5184T>G (p.Tyr1728Ter)
c.10539T>G (p.Tyr3513Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.195787076A>GCA430536872DNAH7c.10812T>C (p.Tyr3604=)
c.261T>C (p.Tyr87=)
c.10692T>C (p.Tyr3564=)
c.10674T>C (p.Tyr3558=)
c.10587T>C (p.Tyr3529=)
c.6456T>C (p.Tyr2152=)
c.5184T>C (p.Tyr1728=)
c.10539T>C (p.Tyr3513=)
2g.195787076A>TCA349933777DNAH7c.10812T>A (p.Tyr3604Ter)
c.261T>A (p.Tyr87Ter)
c.10692T>A (p.Tyr3564Ter)
c.10674T>A (p.Tyr3558Ter)
c.10587T>A (p.Tyr3529Ter)
c.6456T>A (p.Tyr2152Ter)
c.5184T>A (p.Tyr1728Ter)
c.10539T>A (p.Tyr3513Ter)
2g.195787077T>ACA349933778DNAH7c.10811A>T (p.Tyr3604Phe)
c.260A>T (p.Tyr87Phe)
c.10691A>T (p.Tyr3564Phe)
c.10673A>T (p.Tyr3558Phe)
c.10586A>T (p.Tyr3529Phe)
c.6455A>T (p.Tyr2152Phe)
c.5183A>T (p.Tyr1728Phe)
c.10538A>T (p.Tyr3513Phe)
2g.195787077T>CCA62726816DNAH7c.10811A>G (p.Tyr3604Cys)
c.260A>G (p.Tyr87Cys)
c.10691A>G (p.Tyr3564Cys)
c.10673A>G (p.Tyr3558Cys)
c.10586A>G (p.Tyr3529Cys)
c.6455A>G (p.Tyr2152Cys)
c.5183A>G (p.Tyr1728Cys)
c.10538A>G (p.Tyr3513Cys)
 dbSNP gnomAD v4
2g.195787077T>GCA349933779DNAH7c.10811A>C (p.Tyr3604Ser)
c.260A>C (p.Tyr87Ser)
c.10691A>C (p.Tyr3564Ser)
c.10673A>C (p.Tyr3558Ser)
c.10586A>C (p.Tyr3529Ser)
c.6455A>C (p.Tyr2152Ser)
c.5183A>C (p.Tyr1728Ser)
c.10538A>C (p.Tyr3513Ser)
2g.195787077T=CA1318501886DNAH7c.10811A= (p.Tyr3604=)
c.260A= (p.Tyr87=)
c.10691A= (p.Tyr3564=)
c.10673A= (p.Tyr3558=)
c.10586A= (p.Tyr3529=)
c.6455A= (p.Tyr2152=)
c.5183A= (p.Tyr1728=)
c.10538A= (p.Tyr3513=)
2g.195787078A=CA1318501898DNAH7c.10810T= (p.Tyr3604=)
c.259T= (p.Tyr87=)
c.10690T= (p.Tyr3564=)
c.10672T= (p.Tyr3558=)
c.10585T= (p.Tyr3529=)
c.6454T= (p.Tyr2152=)
c.5182T= (p.Tyr1728=)
c.10537T= (p.Tyr3513=)
2g.195787078A>CCA349933780DNAH7c.10810T>G (p.Tyr3604Asp)
c.259T>G (p.Tyr87Asp)
c.10690T>G (p.Tyr3564Asp)
c.10672T>G (p.Tyr3558Asp)
c.10585T>G (p.Tyr3529Asp)
c.6454T>G (p.Tyr2152Asp)
c.5182T>G (p.Tyr1728Asp)
c.10537T>G (p.Tyr3513Asp)
2g.195787078A>GCA349933781DNAH7c.10810T>C (p.Tyr3604His)
c.259T>C (p.Tyr87His)
c.10690T>C (p.Tyr3564His)
c.10672T>C (p.Tyr3558His)
c.10585T>C (p.Tyr3529His)
c.6454T>C (p.Tyr2152His)
c.5182T>C (p.Tyr1728His)
c.10537T>C (p.Tyr3513His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787078A>TCA349933782DNAH7c.10810T>A (p.Tyr3604Asn)
c.259T>A (p.Tyr87Asn)
c.10690T>A (p.Tyr3564Asn)
c.10672T>A (p.Tyr3558Asn)
c.10585T>A (p.Tyr3529Asn)
c.6454T>A (p.Tyr2152Asn)
c.5182T>A (p.Tyr1728Asn)
c.10537T>A (p.Tyr3513Asn)
2g.195787078_195787079insTCA1040881722DNAH7c.10809_10810insA (p.Tyr3604IlefsTer2)
c.258_259insA (p.Tyr87IlefsTer2)
c.10689_10690insA (p.Tyr3564IlefsTer2)
c.10671_10672insA (p.Tyr3558IlefsTer2)
c.10584_10585insA (p.Tyr3529IlefsTer2)
c.6453_6454insA (p.Tyr2152IlefsTer2)
c.5181_5182insA (p.Tyr1728IlefsTer2)
c.10536_10537insA (p.Tyr3513IlefsTer2)
 dbSNP gnomAD v3 gnomAD v4
2g.195787079A=CA1318501904DNAH7c.10809T= (p.Pro3603=)
c.258T= (p.Pro86=)
c.10689T= (p.Pro3563=)
c.10671T= (p.Pro3557=)
c.10584T= (p.Pro3528=)
c.6453T= (p.Pro2151=)
c.5181T= (p.Pro1727=)
c.10536T= (p.Pro3512=)
2g.195787079A>CCA2033944DNAH7c.10809T>G (p.Pro3603=)
c.258T>G (p.Pro86=)
c.10689T>G (p.Pro3563=)
c.10671T>G (p.Pro3557=)
c.10584T>G (p.Pro3528=)
c.6453T>G (p.Pro2151=)
c.5181T>G (p.Pro1727=)
c.10536T>G (p.Pro3512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787079A>GCA430536883DNAH7c.10809T>C (p.Pro3603=)
c.258T>C (p.Pro86=)
c.10689T>C (p.Pro3563=)
c.10671T>C (p.Pro3557=)
c.10584T>C (p.Pro3528=)
c.6453T>C (p.Pro2151=)
c.5181T>C (p.Pro1727=)
c.10536T>C (p.Pro3512=)
2g.195787079A>TCA430536885DNAH7c.10809T>A (p.Pro3603=)
c.258T>A (p.Pro86=)
c.10689T>A (p.Pro3563=)
c.10671T>A (p.Pro3557=)
c.10584T>A (p.Pro3528=)
c.6453T>A (p.Pro2151=)
c.5181T>A (p.Pro1727=)
c.10536T>A (p.Pro3512=)
2g.195787079_195787081delinsAGGCA1318501906DNAH7c.10807_10809delinsCCT (p.Pro3603=)
c.256_258delinsCCT (p.Pro86=)
c.10687_10689delinsCCT (p.Pro3563=)
c.10669_10671delinsCCT (p.Pro3557=)
c.10582_10584delinsCCT (p.Pro3528=)
c.6451_6453delinsCCT (p.Pro2151=)
c.5179_5181delinsCCT (p.Pro1727=)
c.10534_10536delinsCCT (p.Pro3512=)
2g.195787080G>ACA349933783DNAH7c.10808C>T (p.Pro3603Leu)
c.257C>T (p.Pro86Leu)
c.10688C>T (p.Pro3563Leu)
c.10670C>T (p.Pro3557Leu)
c.10583C>T (p.Pro3528Leu)
c.6452C>T (p.Pro2151Leu)
c.5180C>T (p.Pro1727Leu)
c.10535C>T (p.Pro3512Leu)
 COSMIC
2g.195787080G>CCA349933784DNAH7c.10808C>G (p.Pro3603Arg)
c.257C>G (p.Pro86Arg)
c.10688C>G (p.Pro3563Arg)
c.10670C>G (p.Pro3557Arg)
c.10583C>G (p.Pro3528Arg)
c.6452C>G (p.Pro2151Arg)
c.5180C>G (p.Pro1727Arg)
c.10535C>G (p.Pro3512Arg)
2g.195787080G=CA1318501909DNAH7c.10808C= (p.Pro3603=)
c.257C= (p.Pro86=)
c.10688C= (p.Pro3563=)
c.10670C= (p.Pro3557=)
c.10583C= (p.Pro3528=)
c.6452C= (p.Pro2151=)
c.5180C= (p.Pro1727=)
c.10535C= (p.Pro3512=)
2g.195787080G>TCA349933785DNAH7c.10808C>A (p.Pro3603His)
c.257C>A (p.Pro86His)
c.10688C>A (p.Pro3563His)
c.10670C>A (p.Pro3557His)
c.10583C>A (p.Pro3528His)
c.6452C>A (p.Pro2151His)
c.5180C>A (p.Pro1727His)
c.10535C>A (p.Pro3512His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787080_195787081delCA1040881729DNAH7c.10807_10808del (p.Pro3603LeufsTer2)
c.256_257del (p.Pro86LeufsTer2)
c.10687_10688del (p.Pro3563LeufsTer2)
c.10669_10670del (p.Pro3557LeufsTer2)
c.10582_10583del (p.Pro3528LeufsTer2)
c.6451_6452del (p.Pro2151LeufsTer2)
c.5179_5180del (p.Pro1727LeufsTer2)
c.10534_10535del (p.Pro3512LeufsTer2)
 dbSNP gnomAD v3 gnomAD v4
2g.195787081G>ACA349933787DNAH7c.10807C>T (p.Pro3603Ser)
c.256C>T (p.Pro86Ser)
c.10687C>T (p.Pro3563Ser)
c.10669C>T (p.Pro3557Ser)
c.10582C>T (p.Pro3528Ser)
c.6451C>T (p.Pro2151Ser)
c.5179C>T (p.Pro1727Ser)
c.10534C>T (p.Pro3512Ser)
 gnomAD v4 COSMIC
2g.195787081G>CCA349933788DNAH7c.10807C>G (p.Pro3603Ala)
c.256C>G (p.Pro86Ala)
c.10687C>G (p.Pro3563Ala)
c.10669C>G (p.Pro3557Ala)
c.10582C>G (p.Pro3528Ala)
c.6451C>G (p.Pro2151Ala)
c.5179C>G (p.Pro1727Ala)
c.10534C>G (p.Pro3512Ala)
2g.195787081G>TCA349933786DNAH7c.10807C>A (p.Pro3603Thr)
c.256C>A (p.Pro86Thr)
c.10687C>A (p.Pro3563Thr)
c.10669C>A (p.Pro3557Thr)
c.10582C>A (p.Pro3528Thr)
c.6451C>A (p.Pro2151Thr)
c.5179C>A (p.Pro1727Thr)
c.10534C>A (p.Pro3512Thr)
2g.195787081_195787082delinsGACA1318501924DNAH7c.10806_10807delinsTC (p.Ile3602=)
c.255_256delinsTC (p.Ile85=)
c.10686_10687delinsTC (p.Ile3562=)
c.10668_10669delinsTC (p.Ile3556=)
c.10581_10582delinsTC (p.Ile3527=)
c.6450_6451delinsTC (p.Ile2150=)
c.5178_5179delinsTC (p.Ile1726=)
c.10533_10534delinsTC (p.Ile3511=)
2g.195787082A=CA1318501936DNAH7c.10806T= (p.Ile3602=)
c.255T= (p.Ile85=)
c.10686T= (p.Ile3562=)
c.10668T= (p.Ile3556=)
c.10581T= (p.Ile3527=)
c.6450T= (p.Ile2150=)
c.5178T= (p.Ile1726=)
c.10533T= (p.Ile3511=)
2g.195787082A>CCA349933789DNAH7c.10806T>G (p.Ile3602Met)
c.255T>G (p.Ile85Met)
c.10686T>G (p.Ile3562Met)
c.10668T>G (p.Ile3556Met)
c.10581T>G (p.Ile3527Met)
c.6450T>G (p.Ile2150Met)
c.5178T>G (p.Ile1726Met)
c.10533T>G (p.Ile3511Met)
2g.195787082A>GCA430536895DNAH7c.10806T>C (p.Ile3602=)
c.255T>C (p.Ile85=)
c.10686T>C (p.Ile3562=)
c.10668T>C (p.Ile3556=)
c.10581T>C (p.Ile3527=)
c.6450T>C (p.Ile2150=)
c.5178T>C (p.Ile1726=)
c.10533T>C (p.Ile3511=)
 gnomAD v4
2g.195787082A>TCA430536896DNAH7c.10806T>A (p.Ile3602=)
c.255T>A (p.Ile85=)
c.10686T>A (p.Ile3562=)
c.10668T>A (p.Ile3556=)
c.10581T>A (p.Ile3527=)
c.6450T>A (p.Ile2150=)
c.5178T>A (p.Ile1726=)
c.10533T>A (p.Ile3511=)
 dbSNP gnomAD v3 gnomAD v4
2g.195787083delCA1318501938DNAH7c.10806del (p.Pro3603LeufsTer9)
c.255del (p.Pro86LeufsTer9)
c.10686del (p.Pro3563LeufsTer9)
c.10668del (p.Pro3557LeufsTer9)
c.10581del (p.Pro3528LeufsTer9)
c.6450del (p.Pro2151LeufsTer9)
c.5178del (p.Pro1727LeufsTer9)
c.10533del (p.Pro3512LeufsTer9)
 dbSNP
2g.195787083A=CA1318501942DNAH7c.10805T= (p.Ile3602=)
c.254T= (p.Ile85=)
c.10685T= (p.Ile3562=)
c.10667T= (p.Ile3556=)
c.10580T= (p.Ile3527=)
c.6449T= (p.Ile2150=)
c.5177T= (p.Ile1726=)
c.10532T= (p.Ile3511=)
2g.195787083A>CCA349933792DNAH7c.10805T>G (p.Ile3602Ser)
c.254T>G (p.Ile85Ser)
c.10685T>G (p.Ile3562Ser)
c.10667T>G (p.Ile3556Ser)
c.10580T>G (p.Ile3527Ser)
c.6449T>G (p.Ile2150Ser)
c.5177T>G (p.Ile1726Ser)
c.10532T>G (p.Ile3511Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.195787083A>GCA349933790DNAH7c.10805T>C (p.Ile3602Thr)
c.254T>C (p.Ile85Thr)
c.10685T>C (p.Ile3562Thr)
c.10667T>C (p.Ile3556Thr)
c.10580T>C (p.Ile3527Thr)
c.6449T>C (p.Ile2150Thr)
c.5177T>C (p.Ile1726Thr)
c.10532T>C (p.Ile3511Thr)
2g.195787083A>TCA349933791DNAH7c.10805T>A (p.Ile3602Asn)
c.254T>A (p.Ile85Asn)
c.10685T>A (p.Ile3562Asn)
c.10667T>A (p.Ile3556Asn)
c.10580T>A (p.Ile3527Asn)
c.6449T>A (p.Ile2150Asn)
c.5177T>A (p.Ile1726Asn)
c.10532T>A (p.Ile3511Asn)
2g.195787084T>ACA349933793DNAH7c.10804A>T (p.Ile3602Phe)
c.253A>T (p.Ile85Phe)
c.10684A>T (p.Ile3562Phe)
c.10666A>T (p.Ile3556Phe)
c.10579A>T (p.Ile3527Phe)
c.6448A>T (p.Ile2150Phe)
c.5176A>T (p.Ile1726Phe)
c.10531A>T (p.Ile3511Phe)
2g.195787084T>CCA349933794DNAH7c.10804A>G (p.Ile3602Val)
c.253A>G (p.Ile85Val)
c.10684A>G (p.Ile3562Val)
c.10666A>G (p.Ile3556Val)
c.10579A>G (p.Ile3527Val)
c.6448A>G (p.Ile2150Val)
c.5176A>G (p.Ile1726Val)
c.10531A>G (p.Ile3511Val)
2g.195787084T>GCA349933795DNAH7c.10804A>C (p.Ile3602Leu)
c.253A>C (p.Ile85Leu)
c.10684A>C (p.Ile3562Leu)
c.10666A>C (p.Ile3556Leu)
c.10579A>C (p.Ile3527Leu)
c.6448A>C (p.Ile2150Leu)
c.5176A>C (p.Ile1726Leu)
c.10531A>C (p.Ile3511Leu)
2g.195787085A>CCA349933796DNAH7c.10803T>G (p.Asn3601Lys)
c.252T>G (p.Asn84Lys)
c.10683T>G (p.Asn3561Lys)
c.10665T>G (p.Asn3555Lys)
c.10578T>G (p.Asn3526Lys)
c.6447T>G (p.Asn2149Lys)
c.5175T>G (p.Asn1725Lys)
c.10530T>G (p.Asn3510Lys)
2g.195787085A>GCA430536906DNAH7c.10803T>C (p.Asn3601=)
c.252T>C (p.Asn84=)
c.10683T>C (p.Asn3561=)
c.10665T>C (p.Asn3555=)
c.10578T>C (p.Asn3526=)
c.6447T>C (p.Asn2149=)
c.5175T>C (p.Asn1725=)
c.10530T>C (p.Asn3510=)
2g.195787085A>TCA349933797DNAH7c.10803T>A (p.Asn3601Lys)
c.252T>A (p.Asn84Lys)
c.10683T>A (p.Asn3561Lys)
c.10665T>A (p.Asn3555Lys)
c.10578T>A (p.Asn3526Lys)
c.6447T>A (p.Asn2149Lys)
c.5175T>A (p.Asn1725Lys)
c.10530T>A (p.Asn3510Lys)
2g.195787086T>ACA349933798DNAH7c.10802A>T (p.Asn3601Ile)
c.251A>T (p.Asn84Ile)
c.10682A>T (p.Asn3561Ile)
c.10664A>T (p.Asn3555Ile)
c.10577A>T (p.Asn3526Ile)
c.6446A>T (p.Asn2149Ile)
c.5174A>T (p.Asn1725Ile)
c.10529A>T (p.Asn3510Ile)
2g.195787086T>CCA349933799DNAH7c.10802A>G (p.Asn3601Ser)
c.251A>G (p.Asn84Ser)
c.10682A>G (p.Asn3561Ser)
c.10664A>G (p.Asn3555Ser)
c.10577A>G (p.Asn3526Ser)
c.6446A>G (p.Asn2149Ser)
c.5174A>G (p.Asn1725Ser)
c.10529A>G (p.Asn3510Ser)
2g.195787086T>GCA349933800DNAH7c.10802A>C (p.Asn3601Thr)
c.251A>C (p.Asn84Thr)
c.10682A>C (p.Asn3561Thr)
c.10664A>C (p.Asn3555Thr)
c.10577A>C (p.Asn3526Thr)
c.6446A>C (p.Asn2149Thr)
c.5174A>C (p.Asn1725Thr)
c.10529A>C (p.Asn3510Thr)
2g.195787087T>ACA349933803DNAH7c.10801A>T (p.Asn3601Tyr)
c.250A>T (p.Asn84Tyr)
c.10681A>T (p.Asn3561Tyr)
c.10663A>T (p.Asn3555Tyr)
c.10576A>T (p.Asn3526Tyr)
c.6445A>T (p.Asn2149Tyr)
c.5173A>T (p.Asn1725Tyr)
c.10528A>T (p.Asn3510Tyr)
 gnomAD v4
2g.195787087T>CCA349933802DNAH7c.10801A>G (p.Asn3601Asp)
c.250A>G (p.Asn84Asp)
c.10681A>G (p.Asn3561Asp)
c.10663A>G (p.Asn3555Asp)
c.10576A>G (p.Asn3526Asp)
c.6445A>G (p.Asn2149Asp)
c.5173A>G (p.Asn1725Asp)
c.10528A>G (p.Asn3510Asp)
2g.195787087T>GCA349933801DNAH7c.10801A>C (p.Asn3601His)
c.250A>C (p.Asn84His)
c.10681A>C (p.Asn3561His)
c.10663A>C (p.Asn3555His)
c.10576A>C (p.Asn3526His)
c.6445A>C (p.Asn2149His)
c.5173A>C (p.Asn1725His)
c.10528A>C (p.Asn3510His)
2g.195787088C>ACA349933804DNAH7c.10800G>T (p.Trp3600Cys)
c.249G>T (p.Trp83Cys)
c.10680G>T (p.Trp3560Cys)
c.10662G>T (p.Trp3554Cys)
c.10575G>T (p.Trp3525Cys)
c.6444G>T (p.Trp2148Cys)
c.5172G>T (p.Trp1724Cys)
c.10527G>T (p.Trp3509Cys)
2g.195787088C=CA1318501948DNAH7c.10800G= (p.Trp3600=)
c.249G= (p.Trp83=)
c.10680G= (p.Trp3560=)
c.10662G= (p.Trp3554=)
c.10575G= (p.Trp3525=)
c.6444G= (p.Trp2148=)
c.5172G= (p.Trp1724=)
c.10527G= (p.Trp3509=)
2g.195787088C>GCA349933805DNAH7c.10800G>C (p.Trp3600Cys)
c.249G>C (p.Trp83Cys)
c.10680G>C (p.Trp3560Cys)
c.10662G>C (p.Trp3554Cys)
c.10575G>C (p.Trp3525Cys)
c.6444G>C (p.Trp2148Cys)
c.5172G>C (p.Trp1724Cys)
c.10527G>C (p.Trp3509Cys)
2g.195787088C>TCA349933806DNAH7c.10800G>A (p.Trp3600Ter)
c.249G>A (p.Trp83Ter)
c.10680G>A (p.Trp3560Ter)
c.10662G>A (p.Trp3554Ter)
c.10575G>A (p.Trp3525Ter)
c.6444G>A (p.Trp2148Ter)
c.5172G>A (p.Trp1724Ter)
c.10527G>A (p.Trp3509Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787089C>ACA349933807DNAH7c.10799G>T (p.Trp3600Leu)
c.248G>T (p.Trp83Leu)
c.10679G>T (p.Trp3560Leu)
c.10661G>T (p.Trp3554Leu)
c.10574G>T (p.Trp3525Leu)
c.6443G>T (p.Trp2148Leu)
c.5171G>T (p.Trp1724Leu)
c.10526G>T (p.Trp3509Leu)
2g.195787089C=CA1318501957DNAH7c.10799G= (p.Trp3600=)
c.248G= (p.Trp83=)
c.10679G= (p.Trp3560=)
c.10661G= (p.Trp3554=)
c.10574G= (p.Trp3525=)
c.6443G= (p.Trp2148=)
c.5171G= (p.Trp1724=)
c.10526G= (p.Trp3509=)
2g.195787089C>GCA349933808DNAH7c.10799G>C (p.Trp3600Ser)
c.248G>C (p.Trp83Ser)
c.10679G>C (p.Trp3560Ser)
c.10661G>C (p.Trp3554Ser)
c.10574G>C (p.Trp3525Ser)
c.6443G>C (p.Trp2148Ser)
c.5171G>C (p.Trp1724Ser)
c.10526G>C (p.Trp3509Ser)
2g.195787089C>TCA349933809DNAH7c.10799G>A (p.Trp3600Ter)
c.248G>A (p.Trp83Ter)
c.10679G>A (p.Trp3560Ter)
c.10661G>A (p.Trp3554Ter)
c.10574G>A (p.Trp3525Ter)
c.6443G>A (p.Trp2148Ter)
c.5171G>A (p.Trp1724Ter)
c.10526G>A (p.Trp3509Ter)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.195787090A>CCA349933810DNAH7c.10798T>G (p.Trp3600Gly)
c.247T>G (p.Trp83Gly)
c.10678T>G (p.Trp3560Gly)
c.10660T>G (p.Trp3554Gly)
c.10573T>G (p.Trp3525Gly)
c.6442T>G (p.Trp2148Gly)
c.5170T>G (p.Trp1724Gly)
c.10525T>G (p.Trp3509Gly)
2g.195787090A>GCA349933811DNAH7c.10798T>C (p.Trp3600Arg)
c.247T>C (p.Trp83Arg)
c.10678T>C (p.Trp3560Arg)
c.10660T>C (p.Trp3554Arg)
c.10573T>C (p.Trp3525Arg)
c.6442T>C (p.Trp2148Arg)
c.5170T>C (p.Trp1724Arg)
c.10525T>C (p.Trp3509Arg)
 gnomAD v4
2g.195787090A>TCA349933812DNAH7c.10798T>A (p.Trp3600Arg)
c.247T>A (p.Trp83Arg)
c.10678T>A (p.Trp3560Arg)
c.10660T>A (p.Trp3554Arg)
c.10573T>A (p.Trp3525Arg)
c.6442T>A (p.Trp2148Arg)
c.5170T>A (p.Trp1724Arg)
c.10525T>A (p.Trp3509Arg)
2g.195787091C>ACA430536931DNAH7c.10797G>T (p.Gly3599=)
c.246G>T (p.Gly82=)
c.10677G>T (p.Gly3559=)
c.10659G>T (p.Gly3553=)
c.10572G>T (p.Gly3524=)
c.6441G>T (p.Gly2147=)
c.5169G>T (p.Gly1723=)
c.10524G>T (p.Gly3508=)
2g.195787091C=CA1318501965DNAH7c.10797G= (p.Gly3599=)
c.246G= (p.Gly82=)
c.10677G= (p.Gly3559=)
c.10659G= (p.Gly3553=)
c.10572G= (p.Gly3524=)
c.6441G= (p.Gly2147=)
c.5169G= (p.Gly1723=)
c.10524G= (p.Gly3508=)
2g.195787091C>GCA430536928DNAH7c.10797G>C (p.Gly3599=)
c.246G>C (p.Gly82=)
c.10677G>C (p.Gly3559=)
c.10659G>C (p.Gly3553=)
c.10572G>C (p.Gly3524=)
c.6441G>C (p.Gly2147=)
c.5169G>C (p.Gly1723=)
c.10524G>C (p.Gly3508=)
2g.195787091C>TCA430536926DNAH7c.10797G>A (p.Gly3599=)
c.246G>A (p.Gly82=)
c.10677G>A (p.Gly3559=)
c.10659G>A (p.Gly3553=)
c.10572G>A (p.Gly3524=)
c.6441G>A (p.Gly2147=)
c.5169G>A (p.Gly1723=)
c.10524G>A (p.Gly3508=)
 dbSNP gnomAD v2 gnomAD v4
2g.195787092C>ACA349933813DNAH7c.10796G>T (p.Gly3599Val)
c.245G>T (p.Gly82Val)
c.10676G>T (p.Gly3559Val)
c.10658G>T (p.Gly3553Val)
c.10571G>T (p.Gly3524Val)
c.6440G>T (p.Gly2147Val)
c.5168G>T (p.Gly1723Val)
c.10523G>T (p.Gly3508Val)
2g.195787092C>GCA349933814DNAH7c.10796G>C (p.Gly3599Ala)
c.245G>C (p.Gly82Ala)
c.10676G>C (p.Gly3559Ala)
c.10658G>C (p.Gly3553Ala)
c.10571G>C (p.Gly3524Ala)
c.6440G>C (p.Gly2147Ala)
c.5168G>C (p.Gly1723Ala)
c.10523G>C (p.Gly3508Ala)
2g.195787092C>TCA349933815DNAH7c.10796G>A (p.Gly3599Glu)
c.245G>A (p.Gly82Glu)
c.10676G>A (p.Gly3559Glu)
c.10658G>A (p.Gly3553Glu)
c.10571G>A (p.Gly3524Glu)
c.6440G>A (p.Gly2147Glu)
c.5168G>A (p.Gly1723Glu)
c.10523G>A (p.Gly3508Glu)
 gnomAD v4
2g.195787093C>ACA349933817DNAH7c.10795G>T (p.Gly3599Trp)
c.244G>T (p.Gly82Trp)
c.10675G>T (p.Gly3559Trp)
c.10657G>T (p.Gly3553Trp)
c.10570G>T (p.Gly3524Trp)
c.6439G>T (p.Gly2147Trp)
c.5167G>T (p.Gly1723Trp)
c.10522G>T (p.Gly3508Trp)
 COSMIC
2g.195787093C>GCA349933818DNAH7c.10795G>C (p.Gly3599Arg)
c.244G>C (p.Gly82Arg)
c.10675G>C (p.Gly3559Arg)
c.10657G>C (p.Gly3553Arg)
c.10570G>C (p.Gly3524Arg)
c.6439G>C (p.Gly2147Arg)
c.5167G>C (p.Gly1723Arg)
c.10522G>C (p.Gly3508Arg)
 gnomAD v4
2g.195787093C>TCA349933816DNAH7c.10795G>A (p.Gly3599Arg)
c.244G>A (p.Gly82Arg)
c.10675G>A (p.Gly3559Arg)
c.10657G>A (p.Gly3553Arg)
c.10570G>A (p.Gly3524Arg)
c.6439G>A (p.Gly2147Arg)
c.5167G>A (p.Gly1723Arg)
c.10522G>A (p.Gly3508Arg)
2g.195787093_195787094insACA2662432928DNAH7c.10794_10795insT (p.Gly3599TrpfsTer7)
c.243_244insT (p.Gly82TrpfsTer7)
c.10674_10675insT (p.Gly3559TrpfsTer7)
c.10656_10657insT (p.Gly3553TrpfsTer7)
c.10569_10570insT (p.Gly3524TrpfsTer7)
c.6438_6439insT (p.Gly2147TrpfsTer7)
c.5166_5167insT (p.Gly1723TrpfsTer7)
c.10521_10522insT (p.Gly3508TrpfsTer7)
 gnomAD v4
2g.195787094T>ACA430536940DNAH7c.10794A>T (p.Leu3598=)
c.243A>T (p.Leu81=)
c.10674A>T (p.Leu3558=)
c.10656A>T (p.Leu3552=)
c.10569A>T (p.Leu3523=)
c.6438A>T (p.Leu2146=)
c.5166A>T (p.Leu1722=)
c.10521A>T (p.Leu3507=)
2g.195787094T>CCA430536944DNAH7c.10794A>G (p.Leu3598=)
c.243A>G (p.Leu81=)
c.10674A>G (p.Leu3558=)
c.10656A>G (p.Leu3552=)
c.10569A>G (p.Leu3523=)
c.6438A>G (p.Leu2146=)
c.5166A>G (p.Leu1722=)
c.10521A>G (p.Leu3507=)
2g.195787094T>GCA430536942DNAH7c.10794A>C (p.Leu3598=)
c.243A>C (p.Leu81=)
c.10674A>C (p.Leu3558=)
c.10656A>C (p.Leu3552=)
c.10569A>C (p.Leu3523=)
c.6438A>C (p.Leu2146=)
c.5166A>C (p.Leu1722=)
c.10521A>C (p.Leu3507=)
2g.195787095A=CA1318501973DNAH7c.10793T= (p.Leu3598=)
c.242T= (p.Leu81=)
c.10673T= (p.Leu3558=)
c.10655T= (p.Leu3552=)
c.10568T= (p.Leu3523=)
c.6437T= (p.Leu2146=)
c.5165T= (p.Leu1722=)
c.10520T= (p.Leu3507=)
2g.195787095A>CCA349933819DNAH7c.10793T>G (p.Leu3598Arg)
c.242T>G (p.Leu81Arg)
c.10673T>G (p.Leu3558Arg)
c.10655T>G (p.Leu3552Arg)
c.10568T>G (p.Leu3523Arg)
c.6437T>G (p.Leu2146Arg)
c.5165T>G (p.Leu1722Arg)
c.10520T>G (p.Leu3507Arg)
2g.195787095A>GCA349933820DNAH7c.10793T>C (p.Leu3598Pro)
c.242T>C (p.Leu81Pro)
c.10673T>C (p.Leu3558Pro)
c.10655T>C (p.Leu3552Pro)
c.10568T>C (p.Leu3523Pro)
c.6437T>C (p.Leu2146Pro)
c.5165T>C (p.Leu1722Pro)
c.10520T>C (p.Leu3507Pro)
2g.195787095A>TCA349933821DNAH7c.10793T>A (p.Leu3598Gln)
c.242T>A (p.Leu81Gln)
c.10673T>A (p.Leu3558Gln)
c.10655T>A (p.Leu3552Gln)
c.10568T>A (p.Leu3523Gln)
c.6437T>A (p.Leu2146Gln)
c.5165T>A (p.Leu1722Gln)
c.10520T>A (p.Leu3507Gln)
 COSMIC
2g.195787096G>ACA430536950DNAH7c.10792C>T (p.Leu3598=)
c.241C>T (p.Leu81=)
c.10672C>T (p.Leu3558=)
c.10654C>T (p.Leu3552=)
c.10567C>T (p.Leu3523=)
c.6436C>T (p.Leu2146=)
c.5164C>T (p.Leu1722=)
c.10519C>T (p.Leu3507=)
2g.195787096G>CCA349933822DNAH7c.10792C>G (p.Leu3598Val)
c.241C>G (p.Leu81Val)
c.10672C>G (p.Leu3558Val)
c.10654C>G (p.Leu3552Val)
c.10567C>G (p.Leu3523Val)
c.6436C>G (p.Leu2146Val)
c.5164C>G (p.Leu1722Val)
c.10519C>G (p.Leu3507Val)
2g.195787096G>TCA349933823DNAH7c.10792C>A (p.Leu3598Ile)
c.241C>A (p.Leu81Ile)
c.10672C>A (p.Leu3558Ile)
c.10654C>A (p.Leu3552Ile)
c.10567C>A (p.Leu3523Ile)
c.6436C>A (p.Leu2146Ile)
c.5164C>A (p.Leu1722Ile)
c.10519C>A (p.Leu3507Ile)
2g.195787099dupCA538495320DNAH7c.10792dup (p.Leu3598ProfsTer8)
c.241dup (p.Leu81ProfsTer8)
c.10672dup (p.Leu3558ProfsTer8)
c.10654dup (p.Leu3552ProfsTer8)
c.10567dup (p.Leu3523ProfsTer8)
c.6436dup (p.Leu2146ProfsTer8)
c.5164dup (p.Leu1722ProfsTer8)
c.10519dup (p.Leu3507ProfsTer8)
 dbSNP gnomAD v2 gnomAD v4
2g.195787097G>ACA430536954DNAH7c.10791C>T (p.Pro3597=)
c.240C>T (p.Pro80=)
c.10671C>T (p.Pro3557=)
c.10653C>T (p.Pro3551=)
c.10566C>T (p.Pro3522=)
c.6435C>T (p.Pro2145=)
c.5163C>T (p.Pro1721=)
c.10518C>T (p.Pro3506=)
 gnomAD v4
2g.195787097G>CCA430536955DNAH7c.10791C>G (p.Pro3597=)
c.240C>G (p.Pro80=)
c.10671C>G (p.Pro3557=)
c.10653C>G (p.Pro3551=)
c.10566C>G (p.Pro3522=)
c.6435C>G (p.Pro2145=)
c.5163C>G (p.Pro1721=)
c.10518C>G (p.Pro3506=)
2g.195787097G>TCA430536957DNAH7c.10791C>A (p.Pro3597=)
c.240C>A (p.Pro80=)
c.10671C>A (p.Pro3557=)
c.10653C>A (p.Pro3551=)
c.10566C>A (p.Pro3522=)
c.6435C>A (p.Pro2145=)
c.5163C>A (p.Pro1721=)
c.10518C>A (p.Pro3506=)
2g.195787098G>ACA349933826DNAH7c.10790C>T (p.Pro3597Leu)
c.239C>T (p.Pro80Leu)
c.10670C>T (p.Pro3557Leu)
c.10652C>T (p.Pro3551Leu)
c.10565C>T (p.Pro3522Leu)
c.6434C>T (p.Pro2145Leu)
c.5162C>T (p.Pro1721Leu)
c.10517C>T (p.Pro3506Leu)
 gnomAD v4
2g.195787098G>CCA349933825DNAH7c.10790C>G (p.Pro3597Arg)
c.239C>G (p.Pro80Arg)
c.10670C>G (p.Pro3557Arg)
c.10652C>G (p.Pro3551Arg)
c.10565C>G (p.Pro3522Arg)
c.6434C>G (p.Pro2145Arg)
c.5162C>G (p.Pro1721Arg)
c.10517C>G (p.Pro3506Arg)
2g.195787098G>TCA349933824DNAH7c.10790C>A (p.Pro3597His)
c.239C>A (p.Pro80His)
c.10670C>A (p.Pro3557His)
c.10652C>A (p.Pro3551His)
c.10565C>A (p.Pro3522His)
c.6434C>A (p.Pro2145His)
c.5162C>A (p.Pro1721His)
c.10517C>A (p.Pro3506His)
 gnomAD v4
2g.195787099G>ACA349933827DNAH7c.10789C>T (p.Pro3597Ser)
c.238C>T (p.Pro80Ser)
c.10669C>T (p.Pro3557Ser)
c.10651C>T (p.Pro3551Ser)
c.10564C>T (p.Pro3522Ser)
c.6433C>T (p.Pro2145Ser)
c.5161C>T (p.Pro1721Ser)
c.10516C>T (p.Pro3506Ser)
2g.195787099G>CCA349933828DNAH7c.10789C>G (p.Pro3597Ala)
c.238C>G (p.Pro80Ala)
c.10669C>G (p.Pro3557Ala)
c.10651C>G (p.Pro3551Ala)
c.10564C>G (p.Pro3522Ala)
c.6433C>G (p.Pro2145Ala)
c.5161C>G (p.Pro1721Ala)
c.10516C>G (p.Pro3506Ala)
2g.195787099G=CA1318501976DNAH7c.10789C= (p.Pro3597=)
c.238C= (p.Pro80=)
c.10669C= (p.Pro3557=)
c.10651C= (p.Pro3551=)
c.10564C= (p.Pro3522=)
c.6433C= (p.Pro2145=)
c.5161C= (p.Pro1721=)
c.10516C= (p.Pro3506=)
2g.195787099G>TCA349933829DNAH7c.10789C>A (p.Pro3597Thr)
c.238C>A (p.Pro80Thr)
c.10669C>A (p.Pro3557Thr)
c.10651C>A (p.Pro3551Thr)
c.10564C>A (p.Pro3522Thr)
c.6433C>A (p.Pro2145Thr)
c.5161C>A (p.Pro1721Thr)
c.10516C>A (p.Pro3506Thr)
 dbSNP gnomAD v4
2g.195787100T>ACA430536967DNAH7c.10788A>T (p.Gly3596=)
c.237A>T (p.Gly79=)
c.10668A>T (p.Gly3556=)
c.10650A>T (p.Gly3550=)
c.10563A>T (p.Gly3521=)
c.6432A>T (p.Gly2144=)
c.5160A>T (p.Gly1720=)
c.10515A>T (p.Gly3505=)
2g.195787100T>CCA430536966DNAH7c.10788A>G (p.Gly3596=)
c.237A>G (p.Gly79=)
c.10668A>G (p.Gly3556=)
c.10650A>G (p.Gly3550=)
c.10563A>G (p.Gly3521=)
c.6432A>G (p.Gly2144=)
c.5160A>G (p.Gly1720=)
c.10515A>G (p.Gly3505=)
2g.195787100T>GCA430536969DNAH7c.10788A>C (p.Gly3596=)
c.237A>C (p.Gly79=)
c.10668A>C (p.Gly3556=)
c.10650A>C (p.Gly3550=)
c.10563A>C (p.Gly3521=)
c.6432A>C (p.Gly2144=)
c.5160A>C (p.Gly1720=)
c.10515A>C (p.Gly3505=)
2g.195787101C>ACA349933830DNAH7c.10787G>T (p.Gly3596Val)
c.236G>T (p.Gly79Val)
c.10667G>T (p.Gly3556Val)
c.10649G>T (p.Gly3550Val)
c.10562G>T (p.Gly3521Val)
c.6431G>T (p.Gly2144Val)
c.5159G>T (p.Gly1720Val)
c.10514G>T (p.Gly3505Val)
 dbSNP
2g.195787101C=CA1318501986DNAH7c.10787G= (p.Gly3596=)
c.236G= (p.Gly79=)
c.10667G= (p.Gly3556=)
c.10649G= (p.Gly3550=)
c.10562G= (p.Gly3521=)
c.6431G= (p.Gly2144=)
c.5159G= (p.Gly1720=)
c.10514G= (p.Gly3505=)
2g.195787101C>GCA349933831DNAH7c.10787G>C (p.Gly3596Ala)
c.236G>C (p.Gly79Ala)
c.10667G>C (p.Gly3556Ala)
c.10649G>C (p.Gly3550Ala)
c.10562G>C (p.Gly3521Ala)
c.6431G>C (p.Gly2144Ala)
c.5159G>C (p.Gly1720Ala)
c.10514G>C (p.Gly3505Ala)
2g.195787101C>TCA349933832DNAH7c.10787G>A (p.Gly3596Glu)
c.236G>A (p.Gly79Glu)
c.10667G>A (p.Gly3556Glu)
c.10649G>A (p.Gly3550Glu)
c.10562G>A (p.Gly3521Glu)
c.6431G>A (p.Gly2144Glu)
c.5159G>A (p.Gly1720Glu)
c.10514G>A (p.Gly3505Glu)
 COSMIC
2g.195787102C>ACA349933833DNAH7c.10786G>T (p.Gly3596Ter)
c.235G>T (p.Gly79Ter)
c.10666G>T (p.Gly3556Ter)
c.10648G>T (p.Gly3550Ter)
c.10561G>T (p.Gly3521Ter)
c.6430G>T (p.Gly2144Ter)
c.5158G>T (p.Gly1720Ter)
c.10513G>T (p.Gly3505Ter)
2g.195787102C>GCA349933835DNAH7c.10786G>C (p.Gly3596Arg)
c.235G>C (p.Gly79Arg)
c.10666G>C (p.Gly3556Arg)
c.10648G>C (p.Gly3550Arg)
c.10561G>C (p.Gly3521Arg)
c.6430G>C (p.Gly2144Arg)
c.5158G>C (p.Gly1720Arg)
c.10513G>C (p.Gly3505Arg)
2g.195787102C>TCA349933834DNAH7c.10786G>A (p.Gly3596Arg)
c.235G>A (p.Gly79Arg)
c.10666G>A (p.Gly3556Arg)
c.10648G>A (p.Gly3550Arg)
c.10561G>A (p.Gly3521Arg)
c.6430G>A (p.Gly2144Arg)
c.5158G>A (p.Gly1720Arg)
c.10513G>A (p.Gly3505Arg)
 gnomAD v4
2g.195787103A>CCA349933836DNAH7c.10785T>G (p.Phe3595Leu)
c.234T>G (p.Phe78Leu)
c.10665T>G (p.Phe3555Leu)
c.10647T>G (p.Phe3549Leu)
c.10560T>G (p.Phe3520Leu)
c.6429T>G (p.Phe2143Leu)
c.5157T>G (p.Phe1719Leu)
c.10512T>G (p.Phe3504Leu)
2g.195787103A>GCA430536980DNAH7c.10785T>C (p.Phe3595=)
c.234T>C (p.Phe78=)
c.10665T>C (p.Phe3555=)
c.10647T>C (p.Phe3549=)
c.10560T>C (p.Phe3520=)
c.6429T>C (p.Phe2143=)
c.5157T>C (p.Phe1719=)
c.10512T>C (p.Phe3504=)
2g.195787103A>TCA349933837DNAH7c.10785T>A (p.Phe3595Leu)
c.234T>A (p.Phe78Leu)
c.10665T>A (p.Phe3555Leu)
c.10647T>A (p.Phe3549Leu)
c.10560T>A (p.Phe3520Leu)
c.6429T>A (p.Phe2143Leu)
c.5157T>A (p.Phe1719Leu)
c.10512T>A (p.Phe3504Leu)
2g.195787104A>CCA349933838DNAH7c.10784T>G (p.Phe3595Cys)
c.233T>G (p.Phe78Cys)
c.10664T>G (p.Phe3555Cys)
c.10646T>G (p.Phe3549Cys)
c.10559T>G (p.Phe3520Cys)
c.6428T>G (p.Phe2143Cys)
c.5156T>G (p.Phe1719Cys)
c.10511T>G (p.Phe3504Cys)
2g.195787104A>GCA349933839DNAH7c.10784T>C (p.Phe3595Ser)
c.233T>C (p.Phe78Ser)
c.10664T>C (p.Phe3555Ser)
c.10646T>C (p.Phe3549Ser)
c.10559T>C (p.Phe3520Ser)
c.6428T>C (p.Phe2143Ser)
c.5156T>C (p.Phe1719Ser)
c.10511T>C (p.Phe3504Ser)
2g.195787104A>TCA349933840DNAH7c.10784T>A (p.Phe3595Tyr)
c.233T>A (p.Phe78Tyr)
c.10664T>A (p.Phe3555Tyr)
c.10646T>A (p.Phe3549Tyr)
c.10559T>A (p.Phe3520Tyr)
c.6428T>A (p.Phe2143Tyr)
c.5156T>A (p.Phe1719Tyr)
c.10511T>A (p.Phe3504Tyr)
2g.195787105A>CCA349933841DNAH7c.10783T>G (p.Phe3595Val)
c.232T>G (p.Phe78Val)
c.10663T>G (p.Phe3555Val)
c.10645T>G (p.Phe3549Val)
c.10558T>G (p.Phe3520Val)
c.6427T>G (p.Phe2143Val)
c.5155T>G (p.Phe1719Val)
c.10510T>G (p.Phe3504Val)
2g.195787105A>GCA349933842DNAH7c.10783T>C (p.Phe3595Leu)
c.232T>C (p.Phe78Leu)
c.10663T>C (p.Phe3555Leu)
c.10645T>C (p.Phe3549Leu)
c.10558T>C (p.Phe3520Leu)
c.6427T>C (p.Phe2143Leu)
c.5155T>C (p.Phe1719Leu)
c.10510T>C (p.Phe3504Leu)
2g.195787105A>TCA349933843DNAH7c.10783T>A (p.Phe3595Ile)
c.232T>A (p.Phe78Ile)
c.10663T>A (p.Phe3555Ile)
c.10645T>A (p.Phe3549Ile)
c.10558T>A (p.Phe3520Ile)
c.6427T>A (p.Phe2143Ile)
c.5155T>A (p.Phe1719Ile)
c.10510T>A (p.Phe3504Ile)
2g.195787106T>ACA349933844DNAH7c.10782A>T (p.Lys3594Asn)
c.231A>T (p.Lys77Asn)
c.10662A>T (p.Lys3554Asn)
c.10644A>T (p.Lys3548Asn)
c.10557A>T (p.Lys3519Asn)
c.6426A>T (p.Lys2142Asn)
c.5154A>T (p.Lys1718Asn)
c.10509A>T (p.Lys3503Asn)
2g.195787106T>CCA2033945DNAH7c.10782A>G (p.Lys3594=)
c.231A>G (p.Lys77=)
c.10662A>G (p.Lys3554=)
c.10644A>G (p.Lys3548=)
c.10557A>G (p.Lys3519=)
c.6426A>G (p.Lys2142=)
c.5154A>G (p.Lys1718=)
c.10509A>G (p.Lys3503=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787106T>GCA349933845DNAH7c.10782A>C (p.Lys3594Asn)
c.231A>C (p.Lys77Asn)
c.10662A>C (p.Lys3554Asn)
c.10644A>C (p.Lys3548Asn)
c.10557A>C (p.Lys3519Asn)
c.6426A>C (p.Lys2142Asn)
c.5154A>C (p.Lys1718Asn)
c.10509A>C (p.Lys3503Asn)
2g.195787106T=CA1318501989DNAH7c.10782A= (p.Lys3594=)
c.231A= (p.Lys77=)
c.10662A= (p.Lys3554=)
c.10644A= (p.Lys3548=)
c.10557A= (p.Lys3519=)
c.6426A= (p.Lys2142=)
c.5154A= (p.Lys1718=)
c.10509A= (p.Lys3503=)
2g.195787107T>ACA349933848DNAH7c.10781A>T (p.Lys3594Ile)
c.230A>T (p.Lys77Ile)
c.10661A>T (p.Lys3554Ile)
c.10643A>T (p.Lys3548Ile)
c.10556A>T (p.Lys3519Ile)
c.6425A>T (p.Lys2142Ile)
c.5153A>T (p.Lys1718Ile)
c.10508A>T (p.Lys3503Ile)
2g.195787107T>CCA349933847DNAH7c.10781A>G (p.Lys3594Arg)
c.230A>G (p.Lys77Arg)
c.10661A>G (p.Lys3554Arg)
c.10643A>G (p.Lys3548Arg)
c.10556A>G (p.Lys3519Arg)
c.6425A>G (p.Lys2142Arg)
c.5153A>G (p.Lys1718Arg)
c.10508A>G (p.Lys3503Arg)
2g.195787107T>GCA349933846DNAH7c.10781A>C (p.Lys3594Thr)
c.230A>C (p.Lys77Thr)
c.10661A>C (p.Lys3554Thr)
c.10643A>C (p.Lys3548Thr)
c.10556A>C (p.Lys3519Thr)
c.6425A>C (p.Lys2142Thr)
c.5153A>C (p.Lys1718Thr)
c.10508A>C (p.Lys3503Thr)
2g.195787108T>ACA349933849DNAH7c.10780A>T (p.Lys3594Ter)
c.229A>T (p.Lys77Ter)
c.10660A>T (p.Lys3554Ter)
c.10642A>T (p.Lys3548Ter)
c.10555A>T (p.Lys3519Ter)
c.6424A>T (p.Lys2142Ter)
c.5152A>T (p.Lys1718Ter)
c.10507A>T (p.Lys3503Ter)
2g.195787108T>CCA2033946DNAH7c.10780A>G (p.Lys3594Glu)
c.229A>G (p.Lys77Glu)
c.10660A>G (p.Lys3554Glu)
c.10642A>G (p.Lys3548Glu)
c.10555A>G (p.Lys3519Glu)
c.6424A>G (p.Lys2142Glu)
c.5152A>G (p.Lys1718Glu)
c.10507A>G (p.Lys3503Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787108T>GCA349933850DNAH7c.10780A>C (p.Lys3594Gln)
c.229A>C (p.Lys77Gln)
c.10660A>C (p.Lys3554Gln)
c.10642A>C (p.Lys3548Gln)
c.10555A>C (p.Lys3519Gln)
c.6424A>C (p.Lys2142Gln)
c.5152A>C (p.Lys1718Gln)
c.10507A>C (p.Lys3503Gln)
2g.195787108T=CA1318501992DNAH7c.10780A= (p.Lys3594=)
c.229A= (p.Lys77=)
c.10660A= (p.Lys3554=)
c.10642A= (p.Lys3548=)
c.10555A= (p.Lys3519=)
c.6424A= (p.Lys2142=)
c.5152A= (p.Lys1718=)
c.10507A= (p.Lys3503=)
2g.195787109C>ACA430537001DNAH7c.10779G>T (p.Arg3593=)
c.228G>T (p.Arg76=)
c.10659G>T (p.Arg3553=)
c.10641G>T (p.Arg3547=)
c.10554G>T (p.Arg3518=)
c.6423G>T (p.Arg2141=)
c.5151G>T (p.Arg1717=)
c.10506G>T (p.Arg3502=)
2g.195787109C>GCA430537002DNAH7c.10779G>C (p.Arg3593=)
c.228G>C (p.Arg76=)
c.10659G>C (p.Arg3553=)
c.10641G>C (p.Arg3547=)
c.10554G>C (p.Arg3518=)
c.6423G>C (p.Arg2141=)
c.5151G>C (p.Arg1717=)
c.10506G>C (p.Arg3502=)
2g.195787109C>TCA430537005DNAH7c.10779G>A (p.Arg3593=)
c.228G>A (p.Arg76=)
c.10659G>A (p.Arg3553=)
c.10641G>A (p.Arg3547=)
c.10554G>A (p.Arg3518=)
c.6423G>A (p.Arg2141=)
c.5151G>A (p.Arg1717=)
c.10506G>A (p.Arg3502=)
 COSMIC
2g.195787110C>ACA349933851DNAH7c.10778G>T (p.Arg3593Leu)
c.227G>T (p.Arg76Leu)
c.10658G>T (p.Arg3553Leu)
c.10640G>T (p.Arg3547Leu)
c.10553G>T (p.Arg3518Leu)
c.6422G>T (p.Arg2141Leu)
c.5150G>T (p.Arg1717Leu)
c.10505G>T (p.Arg3502Leu)
2g.195787110C=CA1318502002DNAH7c.10778G= (p.Arg3593=)
c.227G= (p.Arg76=)
c.10658G= (p.Arg3553=)
c.10640G= (p.Arg3547=)
c.10553G= (p.Arg3518=)
c.6422G= (p.Arg2141=)
c.5150G= (p.Arg1717=)
c.10505G= (p.Arg3502=)
2g.195787110C>GCA349933852DNAH7c.10778G>C (p.Arg3593Pro)
c.227G>C (p.Arg76Pro)
c.10658G>C (p.Arg3553Pro)
c.10640G>C (p.Arg3547Pro)
c.10553G>C (p.Arg3518Pro)
c.6422G>C (p.Arg2141Pro)
c.5150G>C (p.Arg1717Pro)
c.10505G>C (p.Arg3502Pro)
2g.195787110C>TCA2033947DNAH7c.10778G>A (p.Arg3593Gln)
c.227G>A (p.Arg76Gln)
c.10658G>A (p.Arg3553Gln)
c.10640G>A (p.Arg3547Gln)
c.10553G>A (p.Arg3518Gln)
c.6422G>A (p.Arg2141Gln)
c.5150G>A (p.Arg1717Gln)
c.10505G>A (p.Arg3502Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.195787111G>ACA2033948DNAH7c.10777C>T (p.Arg3593Trp)
c.226C>T (p.Arg76Trp)
c.10657C>T (p.Arg3553Trp)
c.10639C>T (p.Arg3547Trp)
c.10552C>T (p.Arg3518Trp)
c.6421C>T (p.Arg2141Trp)
c.5149C>T (p.Arg1717Trp)
c.10504C>T (p.Arg3502Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787111G>CCA349933853DNAH7c.10777C>G (p.Arg3593Gly)
c.226C>G (p.Arg76Gly)
c.10657C>G (p.Arg3553Gly)
c.10639C>G (p.Arg3547Gly)
c.10552C>G (p.Arg3518Gly)
c.6421C>G (p.Arg2141Gly)
c.5149C>G (p.Arg1717Gly)
c.10504C>G (p.Arg3502Gly)
2g.195787111G=CA1318502008DNAH7c.10777C= (p.Arg3593=)
c.226C= (p.Arg76=)
c.10657C= (p.Arg3553=)
c.10639C= (p.Arg3547=)
c.10552C= (p.Arg3518=)
c.6421C= (p.Arg2141=)
c.5149C= (p.Arg1717=)
c.10504C= (p.Arg3502=)
2g.195787111G>TCA430537011DNAH7c.10777C>A (p.Arg3593=)
c.226C>A (p.Arg76=)
c.10657C>A (p.Arg3553=)
c.10639C>A (p.Arg3547=)
c.10552C>A (p.Arg3518=)
c.6421C>A (p.Arg2141=)
c.5149C>A (p.Arg1717=)
c.10504C>A (p.Arg3502=)
 gnomAD v4
2g.195787112T>ACA349933854DNAH7c.10776A>T (p.Arg3592Ser)
c.225A>T (p.Arg75Ser)
c.10656A>T (p.Arg3552Ser)
c.10638A>T (p.Arg3546Ser)
c.10551A>T (p.Arg3517Ser)
c.6420A>T (p.Arg2140Ser)
c.5148A>T (p.Arg1716Ser)
c.10503A>T (p.Arg3501Ser)
2g.195787112T>CCA430537016DNAH7c.10776A>G (p.Arg3592=)
c.225A>G (p.Arg75=)
c.10656A>G (p.Arg3552=)
c.10638A>G (p.Arg3546=)
c.10551A>G (p.Arg3517=)
c.6420A>G (p.Arg2140=)
c.5148A>G (p.Arg1716=)
c.10503A>G (p.Arg3501=)
2g.195787112T>GCA349933855DNAH7c.10776A>C (p.Arg3592Ser)
c.225A>C (p.Arg75Ser)
c.10656A>C (p.Arg3552Ser)
c.10638A>C (p.Arg3546Ser)
c.10551A>C (p.Arg3517Ser)
c.6420A>C (p.Arg2140Ser)
c.5148A>C (p.Arg1716Ser)
c.10503A>C (p.Arg3501Ser)
2g.195787113C>ACA349933856DNAH7c.10775G>T (p.Arg3592Ile)
c.224G>T (p.Arg75Ile)
c.10655G>T (p.Arg3552Ile)
c.10637G>T (p.Arg3546Ile)
c.10550G>T (p.Arg3517Ile)
c.6419G>T (p.Arg2140Ile)
c.5147G>T (p.Arg1716Ile)
c.10502G>T (p.Arg3501Ile)
2g.195787113C>GCA349933858DNAH7c.10775G>C (p.Arg3592Thr)
c.224G>C (p.Arg75Thr)
c.10655G>C (p.Arg3552Thr)
c.10637G>C (p.Arg3546Thr)
c.10550G>C (p.Arg3517Thr)
c.6419G>C (p.Arg2140Thr)
c.5147G>C (p.Arg1716Thr)
c.10502G>C (p.Arg3501Thr)
2g.195787113C>TCA349933857DNAH7c.10775G>A (p.Arg3592Lys)
c.224G>A (p.Arg75Lys)
c.10655G>A (p.Arg3552Lys)
c.10637G>A (p.Arg3546Lys)
c.10550G>A (p.Arg3517Lys)
c.6419G>A (p.Arg2140Lys)
c.5147G>A (p.Arg1716Lys)
c.10502G>A (p.Arg3501Lys)
2g.195787114T>ACA349933859DNAH7c.10774A>T (p.Arg3592Ter)
c.223A>T (p.Arg75Ter)
c.10654A>T (p.Arg3552Ter)
c.10636A>T (p.Arg3546Ter)
c.10549A>T (p.Arg3517Ter)
c.6418A>T (p.Arg2140Ter)
c.5146A>T (p.Arg1716Ter)
c.10501A>T (p.Arg3501Ter)
2g.195787114T>CCA2033949DNAH7c.10774A>G (p.Arg3592Gly)
c.223A>G (p.Arg75Gly)
c.10654A>G (p.Arg3552Gly)
c.10636A>G (p.Arg3546Gly)
c.10549A>G (p.Arg3517Gly)
c.6418A>G (p.Arg2140Gly)
c.5146A>G (p.Arg1716Gly)
c.10501A>G (p.Arg3501Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787114T>GCA430537022DNAH7c.10774A>C (p.Arg3592=)
c.223A>C (p.Arg75=)
c.10654A>C (p.Arg3552=)
c.10636A>C (p.Arg3546=)
c.10549A>C (p.Arg3517=)
c.6418A>C (p.Arg2140=)
c.5146A>C (p.Arg1716=)
c.10501A>C (p.Arg3501=)
2g.195787114T=CA1318502019DNAH7c.10774A= (p.Arg3592=)
c.223A= (p.Arg75=)
c.10654A= (p.Arg3552=)
c.10636A= (p.Arg3546=)
c.10549A= (p.Arg3517=)
c.6418A= (p.Arg2140=)
c.5146A= (p.Arg1716=)
c.10501A= (p.Arg3501=)
2g.195787115T>ACA349933860DNAH7c.10773A>T (p.Glu3591Asp)
c.222A>T (p.Glu74Asp)
c.10653A>T (p.Glu3551Asp)
c.10635A>T (p.Glu3545Asp)
c.10548A>T (p.Glu3516Asp)
c.6417A>T (p.Glu2139Asp)
c.5145A>T (p.Glu1715Asp)
c.10500A>T (p.Glu3500Asp)
 dbSNP
2g.195787115T>CCA430537025DNAH7c.10773A>G (p.Glu3591=)
c.222A>G (p.Glu74=)
c.10653A>G (p.Glu3551=)
c.10635A>G (p.Glu3545=)
c.10548A>G (p.Glu3516=)
c.6417A>G (p.Glu2139=)
c.5145A>G (p.Glu1715=)
c.10500A>G (p.Glu3500=)
2g.195787115T>GCA349933861DNAH7c.10773A>C (p.Glu3591Asp)
c.222A>C (p.Glu74Asp)
c.10653A>C (p.Glu3551Asp)
c.10635A>C (p.Glu3545Asp)
c.10548A>C (p.Glu3516Asp)
c.6417A>C (p.Glu2139Asp)
c.5145A>C (p.Glu1715Asp)
c.10500A>C (p.Glu3500Asp)
2g.195787115T=CA1318502021DNAH7c.10773A= (p.Glu3591=)
c.222A= (p.Glu74=)
c.10653A= (p.Glu3551=)
c.10635A= (p.Glu3545=)
c.10548A= (p.Glu3516=)
c.6417A= (p.Glu2139=)
c.5145A= (p.Glu1715=)
c.10500A= (p.Glu3500=)
2g.195787116T>ACA349933862DNAH7c.10772A>T (p.Glu3591Val)
c.221A>T (p.Glu74Val)
c.10652A>T (p.Glu3551Val)
c.10634A>T (p.Glu3545Val)
c.10547A>T (p.Glu3516Val)
c.6416A>T (p.Glu2139Val)
c.5144A>T (p.Glu1715Val)
c.10499A>T (p.Glu3500Val)
2g.195787116T>CCA349933864DNAH7c.10772A>G (p.Glu3591Gly)
c.221A>G (p.Glu74Gly)
c.10652A>G (p.Glu3551Gly)
c.10634A>G (p.Glu3545Gly)
c.10547A>G (p.Glu3516Gly)
c.6416A>G (p.Glu2139Gly)
c.5144A>G (p.Glu1715Gly)
c.10499A>G (p.Glu3500Gly)
2g.195787116T>GCA349933863DNAH7c.10772A>C (p.Glu3591Ala)
c.221A>C (p.Glu74Ala)
c.10652A>C (p.Glu3551Ala)
c.10634A>C (p.Glu3545Ala)
c.10547A>C (p.Glu3516Ala)
c.6416A>C (p.Glu2139Ala)
c.5144A>C (p.Glu1715Ala)
c.10499A>C (p.Glu3500Ala)
 gnomAD v4
2g.195787117C>ACA349933865DNAH7c.10771G>T (p.Glu3591Ter)
c.220G>T (p.Glu74Ter)
c.10651G>T (p.Glu3551Ter)
c.10633G>T (p.Glu3545Ter)
c.10546G>T (p.Glu3516Ter)
c.6415G>T (p.Glu2139Ter)
c.5143G>T (p.Glu1715Ter)
c.10498G>T (p.Glu3500Ter)
2g.195787117C>GCA349933866DNAH7c.10771G>C (p.Glu3591Gln)
c.220G>C (p.Glu74Gln)
c.10651G>C (p.Glu3551Gln)
c.10633G>C (p.Glu3545Gln)
c.10546G>C (p.Glu3516Gln)
c.6415G>C (p.Glu2139Gln)
c.5143G>C (p.Glu1715Gln)
c.10498G>C (p.Glu3500Gln)
2g.195787117C>TCA349933867DNAH7c.10771G>A (p.Glu3591Lys)
c.220G>A (p.Glu74Lys)
c.10651G>A (p.Glu3551Lys)
c.10633G>A (p.Glu3545Lys)
c.10546G>A (p.Glu3516Lys)
c.6415G>A (p.Glu2139Lys)
c.5143G>A (p.Glu1715Lys)
c.10498G>A (p.Glu3500Lys)
 gnomAD v4
2g.195787118T>ACA349933868DNAH7c.10770A>T (p.Gln3590His)
c.219A>T (p.Gln73His)
c.10650A>T (p.Gln3550His)
c.10632A>T (p.Gln3544His)
c.10545A>T (p.Gln3515His)
c.6414A>T (p.Gln2138His)
c.5142A>T (p.Gln1714His)
c.10497A>T (p.Gln3499His)
2g.195787118T>CCA430537036DNAH7c.10770A>G (p.Gln3590=)
c.219A>G (p.Gln73=)
c.10650A>G (p.Gln3550=)
c.10632A>G (p.Gln3544=)
c.10545A>G (p.Gln3515=)
c.6414A>G (p.Gln2138=)
c.5142A>G (p.Gln1714=)
c.10497A>G (p.Gln3499=)
 gnomAD v4
2g.195787118T>GCA349933869DNAH7c.10770A>C (p.Gln3590His)
c.219A>C (p.Gln73His)
c.10650A>C (p.Gln3550His)
c.10632A>C (p.Gln3544His)
c.10545A>C (p.Gln3515His)
c.6414A>C (p.Gln2138His)
c.5142A>C (p.Gln1714His)
c.10497A>C (p.Gln3499His)
2g.195787119T>ACA349933870DNAH7c.10769A>T (p.Gln3590Leu)
c.218A>T (p.Gln73Leu)
c.10649A>T (p.Gln3550Leu)
c.10631A>T (p.Gln3544Leu)
c.10544A>T (p.Gln3515Leu)
c.6413A>T (p.Gln2138Leu)
c.5141A>T (p.Gln1714Leu)
c.10496A>T (p.Gln3499Leu)
2g.195787119T>CCA349933871DNAH7c.10769A>G (p.Gln3590Arg)
c.218A>G (p.Gln73Arg)
c.10649A>G (p.Gln3550Arg)
c.10631A>G (p.Gln3544Arg)
c.10544A>G (p.Gln3515Arg)
c.6413A>G (p.Gln2138Arg)
c.5141A>G (p.Gln1714Arg)
c.10496A>G (p.Gln3499Arg)
 dbSNP gnomAD v4
2g.195787119T>GCA349933872DNAH7c.10769A>C (p.Gln3590Pro)
c.218A>C (p.Gln73Pro)
c.10649A>C (p.Gln3550Pro)
c.10631A>C (p.Gln3544Pro)
c.10544A>C (p.Gln3515Pro)
c.6413A>C (p.Gln2138Pro)
c.5141A>C (p.Gln1714Pro)
c.10496A>C (p.Gln3499Pro)
2g.195787119T=CA1318502026DNAH7c.10769A= (p.Gln3590=)
c.218A= (p.Gln73=)
c.10649A= (p.Gln3550=)
c.10631A= (p.Gln3544=)
c.10544A= (p.Gln3515=)
c.6413A= (p.Gln2138=)
c.5141A= (p.Gln1714=)
c.10496A= (p.Gln3499=)
2g.195787120G>ACA349933873DNAH7c.10768C>T (p.Gln3590Ter)
c.217C>T (p.Gln73Ter)
c.10648C>T (p.Gln3550Ter)
c.10630C>T (p.Gln3544Ter)
c.10543C>T (p.Gln3515Ter)
c.6412C>T (p.Gln2138Ter)
c.5140C>T (p.Gln1714Ter)
c.10495C>T (p.Gln3499Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.195787120G>CCA349933874DNAH7c.10768C>G (p.Gln3590Glu)
c.217C>G (p.Gln73Glu)
c.10648C>G (p.Gln3550Glu)
c.10630C>G (p.Gln3544Glu)
c.10543C>G (p.Gln3515Glu)
c.6412C>G (p.Gln2138Glu)
c.5140C>G (p.Gln1714Glu)
c.10495C>G (p.Gln3499Glu)
2g.195787120G>TCA349933875DNAH7c.10768C>A (p.Gln3590Lys)
c.217C>A (p.Gln73Lys)
c.10648C>A (p.Gln3550Lys)
c.10630C>A (p.Gln3544Lys)
c.10543C>A (p.Gln3515Lys)
c.6412C>A (p.Gln2138Lys)
c.5140C>A (p.Gln1714Lys)
c.10495C>A (p.Gln3499Lys)
2g.195787121T>ACA62726851DNAH7c.10767A>T (p.Val3589=)
c.216A>T (p.Val72=)
c.10647A>T (p.Val3549=)
c.10629A>T (p.Val3543=)
c.10542A>T (p.Val3514=)
c.6411A>T (p.Val2137=)
c.5139A>T (p.Val1713=)
c.10494A>T (p.Val3498=)
 dbSNP gnomAD v3 gnomAD v4
2g.195787121T>CCA430537048DNAH7c.10767A>G (p.Val3589=)
c.216A>G (p.Val72=)
c.10647A>G (p.Val3549=)
c.10629A>G (p.Val3543=)
c.10542A>G (p.Val3514=)
c.6411A>G (p.Val2137=)
c.5139A>G (p.Val1713=)
c.10494A>G (p.Val3498=)
 gnomAD v4
2g.195787121T>GCA430537045DNAH7c.10767A>C (p.Val3589=)
c.216A>C (p.Val72=)
c.10647A>C (p.Val3549=)
c.10629A>C (p.Val3543=)
c.10542A>C (p.Val3514=)
c.6411A>C (p.Val2137=)
c.5139A>C (p.Val1713=)
c.10494A>C (p.Val3498=)
2g.195787121T=CA1318502033DNAH7c.10767A= (p.Val3589=)
c.216A= (p.Val72=)
c.10647A= (p.Val3549=)
c.10629A= (p.Val3543=)
c.10542A= (p.Val3514=)
c.6411A= (p.Val2137=)
c.5139A= (p.Val1713=)
c.10494A= (p.Val3498=)
2g.195787122A=CA1318502038DNAH7c.10766T= (p.Val3589=)
c.215T= (p.Val72=)
c.10646T= (p.Val3549=)
c.10628T= (p.Val3543=)
c.10541T= (p.Val3514=)
c.6410T= (p.Val2137=)
c.5138T= (p.Val1713=)
c.10493T= (p.Val3498=)
2g.195787122A>CCA349933878DNAH7c.10766T>G (p.Val3589Gly)
c.215T>G (p.Val72Gly)
c.10646T>G (p.Val3549Gly)
c.10628T>G (p.Val3543Gly)
c.10541T>G (p.Val3514Gly)
c.6410T>G (p.Val2137Gly)
c.5138T>G (p.Val1713Gly)
c.10493T>G (p.Val3498Gly)
2g.195787122A>GCA349933876DNAH7c.10766T>C (p.Val3589Ala)
c.215T>C (p.Val72Ala)
c.10646T>C (p.Val3549Ala)
c.10628T>C (p.Val3543Ala)
c.10541T>C (p.Val3514Ala)
c.6410T>C (p.Val2137Ala)
c.5138T>C (p.Val1713Ala)
c.10493T>C (p.Val3498Ala)
2g.195787122A>TCA349933877DNAH7c.10766T>A (p.Val3589Glu)
c.215T>A (p.Val72Glu)
c.10646T>A (p.Val3549Glu)
c.10628T>A (p.Val3543Glu)
c.10541T>A (p.Val3514Glu)
c.6410T>A (p.Val2137Glu)
c.5138T>A (p.Val1713Glu)
c.10493T>A (p.Val3498Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.195787122dupCA2662432929DNAH7c.10766dup (p.Gln3590ThrfsTer16)
c.215dup (p.Gln73ThrfsTer16)
c.10646dup (p.Gln3550ThrfsTer16)
c.10628dup (p.Gln3544ThrfsTer16)
c.10541dup (p.Gln3515ThrfsTer16)
c.6410dup (p.Gln2138ThrfsTer16)
c.5138dup (p.Gln1714ThrfsTer16)
c.10493dup (p.Gln3499ThrfsTer16)
 gnomAD v4
2g.195787123C>ACA349933879DNAH7c.10765G>T (p.Val3589Leu)
c.214G>T (p.Val72Leu)
c.10645G>T (p.Val3549Leu)
c.10627G>T (p.Val3543Leu)
c.10540G>T (p.Val3514Leu)
c.6409G>T (p.Val2137Leu)
c.5137G>T (p.Val1713Leu)
c.10492G>T (p.Val3498Leu)
2g.195787123C=CA1318502046DNAH7c.10765G= (p.Val3589=)
c.214G= (p.Val72=)
c.10645G= (p.Val3549=)
c.10627G= (p.Val3543=)
c.10540G= (p.Val3514=)
c.6409G= (p.Val2137=)
c.5137G= (p.Val1713=)
c.10492G= (p.Val3498=)
2g.195787123C>GCA62726859DNAH7c.10765G>C (p.Val3589Leu)
c.214G>C (p.Val72Leu)
c.10645G>C (p.Val3549Leu)
c.10627G>C (p.Val3543Leu)
c.10540G>C (p.Val3514Leu)
c.6409G>C (p.Val2137Leu)
c.5137G>C (p.Val1713Leu)
c.10492G>C (p.Val3498Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.195787123C>TCA349933880DNAH7c.10765G>A (p.Val3589Ile)
c.214G>A (p.Val72Ile)
c.10645G>A (p.Val3549Ile)
c.10627G>A (p.Val3543Ile)
c.10540G>A (p.Val3514Ile)
c.6409G>A (p.Val2137Ile)
c.5137G>A (p.Val1713Ile)
c.10492G>A (p.Val3498Ile)
 COSMIC
2g.195787124C>ACA349933881DNAH7c.10764G>T (p.Leu3588Phe)
c.213G>T (p.Leu71Phe)
c.10644G>T (p.Leu3548Phe)
c.10626G>T (p.Leu3542Phe)
c.10539G>T (p.Leu3513Phe)
c.6408G>T (p.Leu2136Phe)
c.5136G>T (p.Leu1712Phe)
c.10491G>T (p.Leu3497Phe)
2g.195787124C=CA1318502055DNAH7c.10764G= (p.Leu3588=)
c.213G= (p.Leu71=)
c.10644G= (p.Leu3548=)
c.10626G= (p.Leu3542=)
c.10539G= (p.Leu3513=)
c.6408G= (p.Leu2136=)
c.5136G= (p.Leu1712=)
c.10491G= (p.Leu3497=)
2g.195787124C>GCA349933882DNAH7c.10764G>C (p.Leu3588Phe)
c.213G>C (p.Leu71Phe)
c.10644G>C (p.Leu3548Phe)
c.10626G>C (p.Leu3542Phe)
c.10539G>C (p.Leu3513Phe)
c.6408G>C (p.Leu2136Phe)
c.5136G>C (p.Leu1712Phe)
c.10491G>C (p.Leu3497Phe)
2g.195787124C>TCA62726860DNAH7c.10764G>A (p.Leu3588=)
c.213G>A (p.Leu71=)
c.10644G>A (p.Leu3548=)
c.10626G>A (p.Leu3542=)
c.10539G>A (p.Leu3513=)
c.6408G>A (p.Leu2136=)
c.5136G>A (p.Leu1712=)
c.10491G>A (p.Leu3497=)
 dbSNP COSMIC
2g.195787125A=CA1318502057DNAH7c.10763T= (p.Leu3588=)
c.212T= (p.Leu71=)
c.10643T= (p.Leu3548=)
c.10625T= (p.Leu3542=)
c.10538T= (p.Leu3513=)
c.6407T= (p.Leu2136=)
c.5135T= (p.Leu1712=)
c.10490T= (p.Leu3497=)
2g.195787125A>CCA349933883DNAH7c.10763T>G (p.Leu3588Trp)
c.212T>G (p.Leu71Trp)
c.10643T>G (p.Leu3548Trp)
c.10625T>G (p.Leu3542Trp)
c.10538T>G (p.Leu3513Trp)
c.6407T>G (p.Leu2136Trp)
c.5135T>G (p.Leu1712Trp)
c.10490T>G (p.Leu3497Trp)
2g.195787125A>GCA2033950DNAH7c.10763T>C (p.Leu3588Ser)
c.212T>C (p.Leu71Ser)
c.10643T>C (p.Leu3548Ser)
c.10625T>C (p.Leu3542Ser)
c.10538T>C (p.Leu3513Ser)
c.6407T>C (p.Leu2136Ser)
c.5135T>C (p.Leu1712Ser)
c.10490T>C (p.Leu3497Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787125A>TCA349933884DNAH7c.10763T>A (p.Leu3588Ter)
c.212T>A (p.Leu71Ter)
c.10643T>A (p.Leu3548Ter)
c.10625T>A (p.Leu3542Ter)
c.10538T>A (p.Leu3513Ter)
c.6407T>A (p.Leu2136Ter)
c.5135T>A (p.Leu1712Ter)
c.10490T>A (p.Leu3497Ter)
2g.195787126A>CCA349933885DNAH7c.10762T>G (p.Leu3588Val)
c.211T>G (p.Leu71Val)
c.10642T>G (p.Leu3548Val)
c.10624T>G (p.Leu3542Val)
c.10537T>G (p.Leu3513Val)
c.6406T>G (p.Leu2136Val)
c.5134T>G (p.Leu1712Val)
c.10489T>G (p.Leu3497Val)
2g.195787126A>GCA430537066DNAH7c.10762T>C (p.Leu3588=)
c.211T>C (p.Leu71=)
c.10642T>C (p.Leu3548=)
c.10624T>C (p.Leu3542=)
c.10537T>C (p.Leu3513=)
c.6406T>C (p.Leu2136=)
c.5134T>C (p.Leu1712=)
c.10489T>C (p.Leu3497=)
2g.195787126A>TCA349933886DNAH7c.10762T>A (p.Leu3588Met)
c.211T>A (p.Leu71Met)
c.10642T>A (p.Leu3548Met)
c.10624T>A (p.Leu3542Met)
c.10537T>A (p.Leu3513Met)
c.6406T>A (p.Leu2136Met)
c.5134T>A (p.Leu1712Met)
c.10489T>A (p.Leu3497Met)
2g.195787127A>CCA430537069DNAH7c.10761T>G (p.Ala3587=)
c.210T>G (p.Ala70=)
c.10641T>G (p.Ala3547=)
c.10623T>G (p.Ala3541=)
c.10536T>G (p.Ala3512=)
c.6405T>G (p.Ala2135=)
c.5133T>G (p.Ala1711=)
c.10488T>G (p.Ala3496=)
 gnomAD v4
2g.195787127A>GCA430537073DNAH7c.10761T>C (p.Ala3587=)
c.210T>C (p.Ala70=)
c.10641T>C (p.Ala3547=)
c.10623T>C (p.Ala3541=)
c.10536T>C (p.Ala3512=)
c.6405T>C (p.Ala2135=)
c.5133T>C (p.Ala1711=)
c.10488T>C (p.Ala3496=)
2g.195787127A>TCA430537071DNAH7c.10761T>A (p.Ala3587=)
c.210T>A (p.Ala70=)
c.10641T>A (p.Ala3547=)
c.10623T>A (p.Ala3541=)
c.10536T>A (p.Ala3512=)
c.6405T>A (p.Ala2135=)
c.5133T>A (p.Ala1711=)
c.10488T>A (p.Ala3496=)
2g.195787128G>ACA349933888DNAH7c.10760C>T (p.Ala3587Val)
c.209C>T (p.Ala70Val)
c.10640C>T (p.Ala3547Val)
c.10622C>T (p.Ala3541Val)
c.10535C>T (p.Ala3512Val)
c.6404C>T (p.Ala2135Val)
c.5132C>T (p.Ala1711Val)
c.10487C>T (p.Ala3496Val)
 gnomAD v4 COSMIC
2g.195787128G>CCA2033951DNAH7c.10760C>G (p.Ala3587Gly)
c.209C>G (p.Ala70Gly)
c.10640C>G (p.Ala3547Gly)
c.10622C>G (p.Ala3541Gly)
c.10535C>G (p.Ala3512Gly)
c.6404C>G (p.Ala2135Gly)
c.5132C>G (p.Ala1711Gly)
c.10487C>G (p.Ala3496Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787128G=CA1318502066DNAH7c.10760C= (p.Ala3587=)
c.209C= (p.Ala70=)
c.10640C= (p.Ala3547=)
c.10622C= (p.Ala3541=)
c.10535C= (p.Ala3512=)
c.6404C= (p.Ala2135=)
c.5132C= (p.Ala1711=)
c.10487C= (p.Ala3496=)
2g.195787128G>TCA349933887DNAH7c.10760C>A (p.Ala3587Asp)
c.209C>A (p.Ala70Asp)
c.10640C>A (p.Ala3547Asp)
c.10622C>A (p.Ala3541Asp)
c.10535C>A (p.Ala3512Asp)
c.6404C>A (p.Ala2135Asp)
c.5132C>A (p.Ala1711Asp)
c.10487C>A (p.Ala3496Asp)
2g.195787129C>ACA349933889DNAH7c.10759G>T (p.Ala3587Ser)
c.208G>T (p.Ala70Ser)
c.10639G>T (p.Ala3547Ser)
c.10621G>T (p.Ala3541Ser)
c.10534G>T (p.Ala3512Ser)
c.6403G>T (p.Ala2135Ser)
c.5131G>T (p.Ala1711Ser)
c.10486G>T (p.Ala3496Ser)
2g.195787129C=CA1318502072DNAH7c.10759G= (p.Ala3587=)
c.208G= (p.Ala70=)
c.10639G= (p.Ala3547=)
c.10621G= (p.Ala3541=)
c.10534G= (p.Ala3512=)
c.6403G= (p.Ala2135=)
c.5131G= (p.Ala1711=)
c.10486G= (p.Ala3496=)
2g.195787129C>GCA349933890DNAH7c.10759G>C (p.Ala3587Pro)
c.208G>C (p.Ala70Pro)
c.10639G>C (p.Ala3547Pro)
c.10621G>C (p.Ala3541Pro)
c.10534G>C (p.Ala3512Pro)
c.6403G>C (p.Ala2135Pro)
c.5131G>C (p.Ala1711Pro)
c.10486G>C (p.Ala3496Pro)
2g.195787129C>TCA349933891DNAH7c.10759G>A (p.Ala3587Thr)
c.208G>A (p.Ala70Thr)
c.10639G>A (p.Ala3547Thr)
c.10621G>A (p.Ala3541Thr)
c.10534G>A (p.Ala3512Thr)
c.6403G>A (p.Ala2135Thr)
c.5131G>A (p.Ala1711Thr)
c.10486G>A (p.Ala3496Thr)
 dbSNP
2g.195787130A=CA1318502079DNAH7c.10758T= (p.His3586=)
c.207T= (p.His69=)
c.10638T= (p.His3546=)
c.10620T= (p.His3540=)
c.10533T= (p.His3511=)
c.6402T= (p.His2134=)
c.5130T= (p.His1710=)
c.10485T= (p.His3495=)
2g.195787130A>CCA349933892DNAH7c.10758T>G (p.His3586Gln)
c.207T>G (p.His69Gln)
c.10638T>G (p.His3546Gln)
c.10620T>G (p.His3540Gln)
c.10533T>G (p.His3511Gln)
c.6402T>G (p.His2134Gln)
c.5130T>G (p.His1710Gln)
c.10485T>G (p.His3495Gln)
2g.195787130A>GCA430537083DNAH7c.10758T>C (p.His3586=)
c.207T>C (p.His69=)
c.10638T>C (p.His3546=)
c.10620T>C (p.His3540=)
c.10533T>C (p.His3511=)
c.6402T>C (p.His2134=)
c.5130T>C (p.His1710=)
c.10485T>C (p.His3495=)
 dbSNP gnomAD v2 gnomAD v4
2g.195787130A>TCA349933893DNAH7c.10758T>A (p.His3586Gln)
c.207T>A (p.His69Gln)
c.10638T>A (p.His3546Gln)
c.10620T>A (p.His3540Gln)
c.10533T>A (p.His3511Gln)
c.6402T>A (p.His2134Gln)
c.5130T>A (p.His1710Gln)
c.10485T>A (p.His3495Gln)
2g.195787131T>ACA349933896DNAH7c.10757A>T (p.His3586Leu)
c.206A>T (p.His69Leu)
c.10637A>T (p.His3546Leu)
c.10619A>T (p.His3540Leu)
c.10532A>T (p.His3511Leu)
c.6401A>T (p.His2134Leu)
c.5129A>T (p.His1710Leu)
c.10484A>T (p.His3495Leu)
2g.195787131T>CCA349933894DNAH7c.10757A>G (p.His3586Arg)
c.206A>G (p.His69Arg)
c.10637A>G (p.His3546Arg)
c.10619A>G (p.His3540Arg)
c.10532A>G (p.His3511Arg)
c.6401A>G (p.His2134Arg)
c.5129A>G (p.His1710Arg)
c.10484A>G (p.His3495Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787131T>GCA349933895DNAH7c.10757A>C (p.His3586Pro)
c.206A>C (p.His69Pro)
c.10637A>C (p.His3546Pro)
c.10619A>C (p.His3540Pro)
c.10532A>C (p.His3511Pro)
c.6401A>C (p.His2134Pro)
c.5129A>C (p.His1710Pro)
c.10484A>C (p.His3495Pro)
2g.195787131T=CA1318502088DNAH7c.10757A= (p.His3586=)
c.206A= (p.His69=)
c.10637A= (p.His3546=)
c.10619A= (p.His3540=)
c.10532A= (p.His3511=)
c.6401A= (p.His2134=)
c.5129A= (p.His1710=)
c.10484A= (p.His3495=)
2g.195787132G>ACA349933897DNAH7c.10756C>T (p.His3586Tyr)
c.205C>T (p.His69Tyr)
c.10636C>T (p.His3546Tyr)
c.10618C>T (p.His3540Tyr)
c.10531C>T (p.His3511Tyr)
c.6400C>T (p.His2134Tyr)
c.5128C>T (p.His1710Tyr)
c.10483C>T (p.His3495Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.195787132G>CCA349933898DNAH7c.10756C>G (p.His3586Asp)
c.205C>G (p.His69Asp)
c.10636C>G (p.His3546Asp)
c.10618C>G (p.His3540Asp)
c.10531C>G (p.His3511Asp)
c.6400C>G (p.His2134Asp)
c.5128C>G (p.His1710Asp)
c.10483C>G (p.His3495Asp)
2g.195787132G=CA1318502103DNAH7c.10756C= (p.His3586=)
c.205C= (p.His69=)
c.10636C= (p.His3546=)
c.10618C= (p.His3540=)
c.10531C= (p.His3511=)
c.6400C= (p.His2134=)
c.5128C= (p.His1710=)
c.10483C= (p.His3495=)
2g.195787132G>TCA349933899DNAH7c.10756C>A (p.His3586Asn)
c.205C>A (p.His69Asn)
c.10636C>A (p.His3546Asn)
c.10618C>A (p.His3540Asn)
c.10531C>A (p.His3511Asn)
c.6400C>A (p.His2134Asn)
c.5128C>A (p.His1710Asn)
c.10483C>A (p.His3495Asn)
2g.195787133A>CCA349933900DNAH7c.10755T>G (p.Phe3585Leu)
c.204T>G (p.Phe68Leu)
c.10635T>G (p.Phe3545Leu)
c.10617T>G (p.Phe3539Leu)
c.10530T>G (p.Phe3510Leu)
c.6399T>G (p.Phe2133Leu)
c.5127T>G (p.Phe1709Leu)
c.10482T>G (p.Phe3494Leu)
2g.195787133A>GCA430537094DNAH7c.10755T>C (p.Phe3585=)
c.204T>C (p.Phe68=)
c.10635T>C (p.Phe3545=)
c.10617T>C (p.Phe3539=)
c.10530T>C (p.Phe3510=)
c.6399T>C (p.Phe2133=)
c.5127T>C (p.Phe1709=)
c.10482T>C (p.Phe3494=)
2g.195787133A>TCA349933901DNAH7c.10755T>A (p.Phe3585Leu)
c.204T>A (p.Phe68Leu)
c.10635T>A (p.Phe3545Leu)
c.10617T>A (p.Phe3539Leu)
c.10530T>A (p.Phe3510Leu)
c.6399T>A (p.Phe2133Leu)
c.5127T>A (p.Phe1709Leu)
c.10482T>A (p.Phe3494Leu)

Number of alleles fetched