Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13841807_13841810delCA2673274330DNAH5c.5368_5371del (p.Asn1790LeufsTer13)
c.5323_5326del (p.Asn1775LeufsTer13)
n.5575_5578del
c.5476_5479del (p.Asn1826LeufsTer13)
c.4381_4384del (p.Asn1461LeufsTer13)
c.565_568del (p.Asn189LeufsTer13)
c.118_121del (p.Asn40LeufsTer13)
c.3970_3973del (p.Asn1324LeufsTer13)
n.5493_5496del
 gnomAD v4
5g.13841810delCA3203688DNAH5c.5367del (p.Asn1790IlefsTer14)
c.5322del (p.Asn1775IlefsTer14)
n.5574del
c.5475del (p.Asn1826IlefsTer14)
c.4380del (p.Asn1461IlefsTer14)
c.564del (p.Asn189IlefsTer14)
c.117del (p.Asn40IlefsTer14)
c.3969del (p.Asn1324IlefsTer14)
n.5492del
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841810A>CCA359211747DNAH5c.5366T>G (p.Leu1789Arg)
c.5321T>G (p.Leu1774Arg)
n.5573T>G
c.5474T>G (p.Leu1825Arg)
c.4379T>G (p.Leu1460Arg)
c.563T>G (p.Leu188Arg)
c.116T>G (p.Leu39Arg)
c.3968T>G (p.Leu1323Arg)
n.5491T>G
5g.13841810A>GCA359211750DNAH5c.5366T>C (p.Leu1789Pro)
c.5321T>C (p.Leu1774Pro)
n.5573T>C
c.5474T>C (p.Leu1825Pro)
c.4379T>C (p.Leu1460Pro)
c.563T>C (p.Leu188Pro)
c.116T>C (p.Leu39Pro)
c.3968T>C (p.Leu1323Pro)
n.5491T>C
5g.13841810A>TCA359211757DNAH5c.5366T>A (p.Leu1789His)
c.5321T>A (p.Leu1774His)
n.5573T>A
c.5474T>A (p.Leu1825His)
c.4379T>A (p.Leu1460His)
c.563T>A (p.Leu188His)
c.116T>A (p.Leu39His)
c.3968T>A (p.Leu1323His)
n.5491T>A
5g.13841811G>ACA3203689DNAH5c.5365C>T (p.Leu1789Phe)
c.5320C>T (p.Leu1774Phe)
n.5572C>T
c.5473C>T (p.Leu1825Phe)
c.4378C>T (p.Leu1460Phe)
c.562C>T (p.Leu188Phe)
c.115C>T (p.Leu39Phe)
c.3967C>T (p.Leu1323Phe)
n.5490C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841811G>CCA359211765DNAH5c.5365C>G (p.Leu1789Val)
c.5320C>G (p.Leu1774Val)
n.5572C>G
c.5473C>G (p.Leu1825Val)
c.4378C>G (p.Leu1460Val)
c.562C>G (p.Leu188Val)
c.115C>G (p.Leu39Val)
c.3967C>G (p.Leu1323Val)
n.5490C>G
5g.13841811G=CA1528458396DNAH5c.5365C= (p.Leu1789=)
c.5320C= (p.Leu1774=)
n.5572C=
c.5473C= (p.Leu1825=)
c.4378C= (p.Leu1460=)
c.562C= (p.Leu188=)
c.115C= (p.Leu39=)
c.3967C= (p.Leu1323=)
n.5490C=
5g.13841811G>TCA359211759DNAH5c.5365C>A (p.Leu1789Ile)
c.5320C>A (p.Leu1774Ile)
n.5572C>A
c.5473C>A (p.Leu1825Ile)
c.4378C>A (p.Leu1460Ile)
c.562C>A (p.Leu188Ile)
c.115C>A (p.Leu39Ile)
c.3967C>A (p.Leu1323Ile)
n.5490C>A
5g.13841812C>ACA359211777DNAH5c.5364G>T (p.Trp1788Cys)
c.5319G>T (p.Trp1773Cys)
n.5571G>T
c.5472G>T (p.Trp1824Cys)
c.4377G>T (p.Trp1459Cys)
c.561G>T (p.Trp187Cys)
c.114G>T (p.Trp38Cys)
c.3966G>T (p.Trp1322Cys)
n.5489G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13841812C=CA1528458398DNAH5c.5364G= (p.Trp1788=)
c.5319G= (p.Trp1773=)
n.5571G=
c.5472G= (p.Trp1824=)
c.4377G= (p.Trp1459=)
c.561G= (p.Trp187=)
c.114G= (p.Trp38=)
c.3966G= (p.Trp1322=)
n.5489G=
5g.13841812C>GCA359211780DNAH5c.5364G>C (p.Trp1788Cys)
c.5319G>C (p.Trp1773Cys)
n.5571G>C
c.5472G>C (p.Trp1824Cys)
c.4377G>C (p.Trp1459Cys)
c.561G>C (p.Trp187Cys)
c.114G>C (p.Trp38Cys)
c.3966G>C (p.Trp1322Cys)
n.5489G>C
5g.13841812C>TCA359211778DNAH5c.5364G>A (p.Trp1788Ter)
c.5319G>A (p.Trp1773Ter)
n.5571G>A
c.5472G>A (p.Trp1824Ter)
c.4377G>A (p.Trp1459Ter)
c.561G>A (p.Trp187Ter)
c.114G>A (p.Trp38Ter)
c.3966G>A (p.Trp1322Ter)
n.5489G>A
5g.13841813C>ACA359211783DNAH5c.5363G>T (p.Trp1788Leu)
c.5318G>T (p.Trp1773Leu)
n.5570G>T
c.5471G>T (p.Trp1824Leu)
c.4376G>T (p.Trp1459Leu)
c.560G>T (p.Trp187Leu)
c.113G>T (p.Trp38Leu)
c.3965G>T (p.Trp1322Leu)
n.5488G>T
5g.13841813C>GCA359211786DNAH5c.5363G>C (p.Trp1788Ser)
c.5318G>C (p.Trp1773Ser)
n.5570G>C
c.5471G>C (p.Trp1824Ser)
c.4376G>C (p.Trp1459Ser)
c.560G>C (p.Trp187Ser)
c.113G>C (p.Trp38Ser)
c.3965G>C (p.Trp1322Ser)
n.5488G>C
5g.13841813C>TCA359211787DNAH5c.5363G>A (p.Trp1788Ter)
c.5318G>A (p.Trp1773Ter)
n.5570G>A
c.5471G>A (p.Trp1824Ter)
c.4376G>A (p.Trp1459Ter)
c.560G>A (p.Trp187Ter)
c.113G>A (p.Trp38Ter)
c.3965G>A (p.Trp1322Ter)
n.5488G>A
5g.13841814A>CCA359211790DNAH5c.5362T>G (p.Trp1788Gly)
c.5317T>G (p.Trp1773Gly)
n.5569T>G
c.5470T>G (p.Trp1824Gly)
c.4375T>G (p.Trp1459Gly)
c.559T>G (p.Trp187Gly)
c.112T>G (p.Trp38Gly)
c.3964T>G (p.Trp1322Gly)
n.5487T>G
5g.13841814A>GCA359211793DNAH5c.5362T>C (p.Trp1788Arg)
c.5317T>C (p.Trp1773Arg)
n.5569T>C
c.5470T>C (p.Trp1824Arg)
c.4375T>C (p.Trp1459Arg)
c.559T>C (p.Trp187Arg)
c.112T>C (p.Trp38Arg)
c.3964T>C (p.Trp1322Arg)
n.5487T>C
 gnomAD v4
5g.13841814A>TCA359211794DNAH5c.5362T>A (p.Trp1788Arg)
c.5317T>A (p.Trp1773Arg)
n.5569T>A
c.5470T>A (p.Trp1824Arg)
c.4375T>A (p.Trp1459Arg)
c.559T>A (p.Trp187Arg)
c.112T>A (p.Trp38Arg)
c.3964T>A (p.Trp1322Arg)
n.5487T>A
5g.13841815A>CCA443256390DNAH5c.5361T>G (p.Val1787=)
c.5316T>G (p.Val1772=)
n.5568T>G
c.5469T>G (p.Val1823=)
c.4374T>G (p.Val1458=)
c.558T>G (p.Val186=)
c.111T>G (p.Val37=)
c.3963T>G (p.Val1321=)
n.5486T>G
5g.13841815A>GCA443256394DNAH5c.5361T>C (p.Val1787=)
c.5316T>C (p.Val1772=)
n.5568T>C
c.5469T>C (p.Val1823=)
c.4374T>C (p.Val1458=)
c.558T>C (p.Val186=)
c.111T>C (p.Val37=)
c.3963T>C (p.Val1321=)
n.5486T>C
 ClinVar
5g.13841815A>TCA443256392DNAH5c.5361T>A (p.Val1787=)
c.5316T>A (p.Val1772=)
n.5568T>A
c.5469T>A (p.Val1823=)
c.4374T>A (p.Val1458=)
c.558T>A (p.Val186=)
c.111T>A (p.Val37=)
c.3963T>A (p.Val1321=)
n.5486T>A
5g.13841815_13841816insGTTTGATCA2580072090DNAH5c.5360_5361insATCAAAC (p.Trp1788SerfsTer5)
c.5315_5316insATCAAAC (p.Trp1773SerfsTer5)
n.5567_5568insATCAAAC
c.5468_5469insATCAAAC (p.Trp1824SerfsTer5)
c.4373_4374insATCAAAC (p.Trp1459SerfsTer5)
c.557_558insATCAAAC (p.Trp187SerfsTer5)
c.110_111insATCAAAC (p.Trp38SerfsTer5)
c.3962_3963insATCAAAC (p.Trp1322SerfsTer5)
n.5485_5486insATCAAAC
 ClinVar
5g.13841816A>CCA359211797DNAH5c.5360T>G (p.Val1787Gly)
c.5315T>G (p.Val1772Gly)
n.5567T>G
c.5468T>G (p.Val1823Gly)
c.4373T>G (p.Val1458Gly)
c.557T>G (p.Val186Gly)
c.110T>G (p.Val37Gly)
c.3962T>G (p.Val1321Gly)
n.5485T>G
5g.13841816A>GCA359211796DNAH5c.5360T>C (p.Val1787Ala)
c.5315T>C (p.Val1772Ala)
n.5567T>C
c.5468T>C (p.Val1823Ala)
c.4373T>C (p.Val1458Ala)
c.557T>C (p.Val186Ala)
c.110T>C (p.Val37Ala)
c.3962T>C (p.Val1321Ala)
n.5485T>C
5g.13841816A>TCA359211795DNAH5c.5360T>A (p.Val1787Asp)
c.5315T>A (p.Val1772Asp)
n.5567T>A
c.5468T>A (p.Val1823Asp)
c.4373T>A (p.Val1458Asp)
c.557T>A (p.Val186Asp)
c.110T>A (p.Val37Asp)
c.3962T>A (p.Val1321Asp)
n.5485T>A
5g.13841817C>ACA359211798DNAH5c.5359G>T (p.Val1787Phe)
c.5314G>T (p.Val1772Phe)
n.5566G>T
c.5467G>T (p.Val1823Phe)
c.4372G>T (p.Val1458Phe)
c.556G>T (p.Val186Phe)
c.109G>T (p.Val37Phe)
c.3961G>T (p.Val1321Phe)
n.5484G>T
5g.13841817C=CA1528458399DNAH5c.5359G= (p.Val1787=)
c.5314G= (p.Val1772=)
n.5566G=
c.5467G= (p.Val1823=)
c.4372G= (p.Val1458=)
c.556G= (p.Val186=)
c.109G= (p.Val37=)
c.3961G= (p.Val1321=)
n.5484G=
5g.13841817C>GCA359211800DNAH5c.5359G>C (p.Val1787Leu)
c.5314G>C (p.Val1772Leu)
n.5566G>C
c.5467G>C (p.Val1823Leu)
c.4372G>C (p.Val1458Leu)
c.556G>C (p.Val186Leu)
c.109G>C (p.Val37Leu)
c.3961G>C (p.Val1321Leu)
n.5484G>C
5g.13841817C>TCA359211802DNAH5c.5359G>A (p.Val1787Ile)
c.5314G>A (p.Val1772Ile)
n.5566G>A
c.5467G>A (p.Val1823Ile)
c.4372G>A (p.Val1458Ile)
c.556G>A (p.Val186Ile)
c.109G>A (p.Val37Ile)
c.3961G>A (p.Val1321Ile)
n.5484G>A
 dbSNP gnomAD v2
5g.13841818T>ACA359211804DNAH5c.5358A>T (p.Glu1786Asp)
c.5313A>T (p.Glu1771Asp)
n.5565A>T
c.5466A>T (p.Glu1822Asp)
c.4371A>T (p.Glu1457Asp)
c.555A>T (p.Glu185Asp)
c.108A>T (p.Glu36Asp)
c.3960A>T (p.Glu1320Asp)
n.5483A>T
5g.13841818T>CCA3203690DNAH5c.5358A>G (p.Glu1786=)
c.5313A>G (p.Glu1771=)
n.5565A>G
c.5466A>G (p.Glu1822=)
c.4371A>G (p.Glu1457=)
c.555A>G (p.Glu185=)
c.108A>G (p.Glu36=)
c.3960A>G (p.Glu1320=)
n.5483A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841818T>GCA359211808DNAH5c.5358A>C (p.Glu1786Asp)
c.5313A>C (p.Glu1771Asp)
n.5565A>C
c.5466A>C (p.Glu1822Asp)
c.4371A>C (p.Glu1457Asp)
c.555A>C (p.Glu185Asp)
c.108A>C (p.Glu36Asp)
c.3960A>C (p.Glu1320Asp)
n.5483A>C
 COSMIC
5g.13841818T=CA1528458402DNAH5c.5358A= (p.Glu1786=)
c.5313A= (p.Glu1771=)
n.5565A=
c.5466A= (p.Glu1822=)
c.4371A= (p.Glu1457=)
c.555A= (p.Glu185=)
c.108A= (p.Glu36=)
c.3960A= (p.Glu1320=)
n.5483A=
5g.13841819T>ACA359211810DNAH5c.5357A>T (p.Glu1786Val)
c.5312A>T (p.Glu1771Val)
n.5564A>T
c.5465A>T (p.Glu1822Val)
c.4370A>T (p.Glu1457Val)
c.554A>T (p.Glu185Val)
c.107A>T (p.Glu36Val)
c.3959A>T (p.Glu1320Val)
n.5482A>T
5g.13841819T>CCA359211813DNAH5c.5357A>G (p.Glu1786Gly)
c.5312A>G (p.Glu1771Gly)
n.5564A>G
c.5465A>G (p.Glu1822Gly)
c.4370A>G (p.Glu1457Gly)
c.554A>G (p.Glu185Gly)
c.107A>G (p.Glu36Gly)
c.3959A>G (p.Glu1320Gly)
n.5482A>G
5g.13841819T>GCA359211812DNAH5c.5357A>C (p.Glu1786Ala)
c.5312A>C (p.Glu1771Ala)
n.5564A>C
c.5465A>C (p.Glu1822Ala)
c.4370A>C (p.Glu1457Ala)
c.554A>C (p.Glu185Ala)
c.107A>C (p.Glu36Ala)
c.3959A>C (p.Glu1320Ala)
n.5482A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13841819T=CA1528458403DNAH5c.5357A= (p.Glu1786=)
c.5312A= (p.Glu1771=)
n.5564A=
c.5465A= (p.Glu1822=)
c.4370A= (p.Glu1457=)
c.554A= (p.Glu185=)
c.107A= (p.Glu36=)
c.3959A= (p.Glu1320=)
n.5482A=
5g.13841820C>ACA359211816DNAH5c.5356G>T (p.Glu1786Ter)
c.5311G>T (p.Glu1771Ter)
n.5563G>T
c.5464G>T (p.Glu1822Ter)
c.4369G>T (p.Glu1457Ter)
c.553G>T (p.Glu185Ter)
c.106G>T (p.Glu36Ter)
c.3958G>T (p.Glu1320Ter)
n.5481G>T
5g.13841820C>GCA359211819DNAH5c.5356G>C (p.Glu1786Gln)
c.5311G>C (p.Glu1771Gln)
n.5563G>C
c.5464G>C (p.Glu1822Gln)
c.4369G>C (p.Glu1457Gln)
c.553G>C (p.Glu185Gln)
c.106G>C (p.Glu36Gln)
c.3958G>C (p.Glu1320Gln)
n.5481G>C
5g.13841820C>TCA359211820DNAH5c.5356G>A (p.Glu1786Lys)
c.5311G>A (p.Glu1771Lys)
n.5563G>A
c.5464G>A (p.Glu1822Lys)
c.4369G>A (p.Glu1457Lys)
c.553G>A (p.Glu185Lys)
c.106G>A (p.Glu36Lys)
c.3958G>A (p.Glu1320Lys)
n.5481G>A
5g.13841821C>ACA443256408DNAH5c.5355G>T (p.Val1785=)
c.5310G>T (p.Val1770=)
n.5562G>T
c.5463G>T (p.Val1821=)
c.4368G>T (p.Val1456=)
c.552G>T (p.Val184=)
c.105G>T (p.Val35=)
c.3957G>T (p.Val1319=)
n.5480G>T
5g.13841821C>GCA443256409DNAH5c.5355G>C (p.Val1785=)
c.5310G>C (p.Val1770=)
n.5562G>C
c.5463G>C (p.Val1821=)
c.4368G>C (p.Val1456=)
c.552G>C (p.Val184=)
c.105G>C (p.Val35=)
c.3957G>C (p.Val1319=)
n.5480G>C
5g.13841821C>TCA443256410DNAH5c.5355G>A (p.Val1785=)
c.5310G>A (p.Val1770=)
n.5562G>A
c.5463G>A (p.Val1821=)
c.4368G>A (p.Val1456=)
c.552G>A (p.Val184=)
c.105G>A (p.Val35=)
c.3957G>A (p.Val1319=)
n.5480G>A
 gnomAD v4
5g.13841822A>CCA359211821DNAH5c.5354T>G (p.Val1785Gly)
c.5309T>G (p.Val1770Gly)
n.5561T>G
c.5462T>G (p.Val1821Gly)
c.4367T>G (p.Val1456Gly)
c.551T>G (p.Val184Gly)
c.104T>G (p.Val35Gly)
c.3956T>G (p.Val1319Gly)
n.5479T>G
5g.13841822A>GCA359211823DNAH5c.5354T>C (p.Val1785Ala)
c.5309T>C (p.Val1770Ala)
n.5561T>C
c.5462T>C (p.Val1821Ala)
c.4367T>C (p.Val1456Ala)
c.551T>C (p.Val184Ala)
c.104T>C (p.Val35Ala)
c.3956T>C (p.Val1319Ala)
n.5479T>C
5g.13841822A>TCA359211826DNAH5c.5354T>A (p.Val1785Glu)
c.5309T>A (p.Val1770Glu)
n.5561T>A
c.5462T>A (p.Val1821Glu)
c.4367T>A (p.Val1456Glu)
c.551T>A (p.Val184Glu)
c.104T>A (p.Val35Glu)
c.3956T>A (p.Val1319Glu)
n.5479T>A
5g.13841823C>ACA359211827DNAH5c.5353G>T (p.Val1785Leu)
c.5308G>T (p.Val1770Leu)
n.5560G>T
c.5461G>T (p.Val1821Leu)
c.4366G>T (p.Val1456Leu)
c.550G>T (p.Val184Leu)
c.103G>T (p.Val35Leu)
c.3955G>T (p.Val1319Leu)
n.5478G>T
 gnomAD v4
5g.13841823C>GCA359211828DNAH5c.5353G>C (p.Val1785Leu)
c.5308G>C (p.Val1770Leu)
n.5560G>C
c.5461G>C (p.Val1821Leu)
c.4366G>C (p.Val1456Leu)
c.550G>C (p.Val184Leu)
c.103G>C (p.Val35Leu)
c.3955G>C (p.Val1319Leu)
n.5478G>C
5g.13841823C>TCA359211829DNAH5c.5353G>A (p.Val1785Met)
c.5308G>A (p.Val1770Met)
n.5560G>A
c.5461G>A (p.Val1821Met)
c.4366G>A (p.Val1456Met)
c.550G>A (p.Val184Met)
c.103G>A (p.Val35Met)
c.3955G>A (p.Val1319Met)
n.5478G>A
 gnomAD v4
5g.13841824A=CA1528458404DNAH5c.5352T= (p.Asn1784=)
c.5307T= (p.Asn1769=)
n.5559T=
c.5460T= (p.Asn1820=)
c.4365T= (p.Asn1455=)
c.549T= (p.Asn183=)
c.102T= (p.Asn34=)
c.3954T= (p.Asn1318=)
n.5477T=
5g.13841824A>CCA359211830DNAH5c.5352T>G (p.Asn1784Lys)
c.5307T>G (p.Asn1769Lys)
n.5559T>G
c.5460T>G (p.Asn1820Lys)
c.4365T>G (p.Asn1455Lys)
c.549T>G (p.Asn183Lys)
c.102T>G (p.Asn34Lys)
c.3954T>G (p.Asn1318Lys)
n.5477T>G
5g.13841824A>GCA443256418DNAH5c.5352T>C (p.Asn1784=)
c.5307T>C (p.Asn1769=)
n.5559T>C
c.5460T>C (p.Asn1820=)
c.4365T>C (p.Asn1455=)
c.549T>C (p.Asn183=)
c.102T>C (p.Asn34=)
c.3954T>C (p.Asn1318=)
n.5477T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13841824A>TCA359211832DNAH5c.5352T>A (p.Asn1784Lys)
c.5307T>A (p.Asn1769Lys)
n.5559T>A
c.5460T>A (p.Asn1820Lys)
c.4365T>A (p.Asn1455Lys)
c.549T>A (p.Asn183Lys)
c.102T>A (p.Asn34Lys)
c.3954T>A (p.Asn1318Lys)
n.5477T>A
5g.13841825T>ACA359211833DNAH5c.5351A>T (p.Asn1784Ile)
c.5306A>T (p.Asn1769Ile)
n.5558A>T
c.5459A>T (p.Asn1820Ile)
c.4364A>T (p.Asn1455Ile)
c.548A>T (p.Asn183Ile)
c.101A>T (p.Asn34Ile)
c.3953A>T (p.Asn1318Ile)
n.5476A>T
 COSMIC
5g.13841825T>CCA359211835DNAH5c.5351A>G (p.Asn1784Ser)
c.5306A>G (p.Asn1769Ser)
n.5558A>G
c.5459A>G (p.Asn1820Ser)
c.4364A>G (p.Asn1455Ser)
c.548A>G (p.Asn183Ser)
c.101A>G (p.Asn34Ser)
c.3953A>G (p.Asn1318Ser)
n.5476A>G
 dbSNP
5g.13841825T>GCA3203691DNAH5c.5351A>C (p.Asn1784Thr)
c.5306A>C (p.Asn1769Thr)
n.5558A>C
c.5459A>C (p.Asn1820Thr)
c.4364A>C (p.Asn1455Thr)
c.548A>C (p.Asn183Thr)
c.101A>C (p.Asn34Thr)
c.3953A>C (p.Asn1318Thr)
n.5476A>C
 dbSNP ExAC gnomAD v2
5g.13841825T=CA1528458406DNAH5c.5351A= (p.Asn1784=)
c.5306A= (p.Asn1769=)
n.5558A=
c.5459A= (p.Asn1820=)
c.4364A= (p.Asn1455=)
c.548A= (p.Asn183=)
c.101A= (p.Asn34=)
c.3953A= (p.Asn1318=)
n.5476A=
5g.13841826T>ACA359211836DNAH5c.5350A>T (p.Asn1784Tyr)
c.5305A>T (p.Asn1769Tyr)
n.5557A>T
c.5458A>T (p.Asn1820Tyr)
c.4363A>T (p.Asn1455Tyr)
c.547A>T (p.Asn183Tyr)
c.100A>T (p.Asn34Tyr)
c.3952A>T (p.Asn1318Tyr)
n.5475A>T
5g.13841826T>CCA359211838DNAH5c.5350A>G (p.Asn1784Asp)
c.5305A>G (p.Asn1769Asp)
n.5557A>G
c.5458A>G (p.Asn1820Asp)
c.4363A>G (p.Asn1455Asp)
c.547A>G (p.Asn183Asp)
c.100A>G (p.Asn34Asp)
c.3952A>G (p.Asn1318Asp)
n.5475A>G
5g.13841826T>GCA359211839DNAH5c.5350A>C (p.Asn1784His)
c.5305A>C (p.Asn1769His)
n.5557A>C
c.5458A>C (p.Asn1820His)
c.4363A>C (p.Asn1455His)
c.547A>C (p.Asn183His)
c.100A>C (p.Asn34His)
c.3952A>C (p.Asn1318His)
n.5475A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13841826T=CA1528458407DNAH5c.5350A= (p.Asn1784=)
c.5305A= (p.Asn1769=)
n.5557A=
c.5458A= (p.Asn1820=)
c.4363A= (p.Asn1455=)
c.547A= (p.Asn183=)
c.100A= (p.Asn34=)
c.3952A= (p.Asn1318=)
n.5475A=
5g.13841827G>ACA443256432DNAH5c.5349C>T (p.Gly1783=)
c.5304C>T (p.Gly1768=)
n.5556C>T
c.5457C>T (p.Gly1819=)
c.4362C>T (p.Gly1454=)
c.546C>T (p.Gly182=)
c.99C>T (p.Gly33=)
c.3951C>T (p.Gly1317=)
n.5474C>T
5g.13841827G>CCA443256434DNAH5c.5349C>G (p.Gly1783=)
c.5304C>G (p.Gly1768=)
n.5556C>G
c.5457C>G (p.Gly1819=)
c.4362C>G (p.Gly1454=)
c.546C>G (p.Gly182=)
c.99C>G (p.Gly33=)
c.3951C>G (p.Gly1317=)
n.5474C>G
5g.13841827G>TCA443256435DNAH5c.5349C>A (p.Gly1783=)
c.5304C>A (p.Gly1768=)
n.5556C>A
c.5457C>A (p.Gly1819=)
c.4362C>A (p.Gly1454=)
c.546C>A (p.Gly182=)
c.99C>A (p.Gly33=)
c.3951C>A (p.Gly1317=)
n.5474C>A
5g.13841828C>ACA359211840DNAH5c.5348G>T (p.Gly1783Val)
c.5303G>T (p.Gly1768Val)
n.5555G>T
c.5456G>T (p.Gly1819Val)
c.4361G>T (p.Gly1454Val)
c.545G>T (p.Gly182Val)
c.98G>T (p.Gly33Val)
c.3950G>T (p.Gly1317Val)
n.5473G>T
 gnomAD v4
5g.13841828C>GCA359211841DNAH5c.5348G>C (p.Gly1783Ala)
c.5303G>C (p.Gly1768Ala)
n.5555G>C
c.5456G>C (p.Gly1819Ala)
c.4361G>C (p.Gly1454Ala)
c.545G>C (p.Gly182Ala)
c.98G>C (p.Gly33Ala)
c.3950G>C (p.Gly1317Ala)
n.5473G>C
5g.13841828C>TCA359211842DNAH5c.5348G>A (p.Gly1783Asp)
c.5303G>A (p.Gly1768Asp)
n.5555G>A
c.5456G>A (p.Gly1819Asp)
c.4361G>A (p.Gly1454Asp)
c.545G>A (p.Gly182Asp)
c.98G>A (p.Gly33Asp)
c.3950G>A (p.Gly1317Asp)
n.5473G>A
5g.13841829C>ACA359211844DNAH5c.5347G>T (p.Gly1783Cys)
c.5302G>T (p.Gly1768Cys)
n.5554G>T
c.5455G>T (p.Gly1819Cys)
c.4360G>T (p.Gly1454Cys)
c.544G>T (p.Gly182Cys)
c.97G>T (p.Gly33Cys)
c.3949G>T (p.Gly1317Cys)
n.5472G>T
5g.13841829C=CA1528458409DNAH5c.5347G= (p.Gly1783=)
c.5302G= (p.Gly1768=)
n.5554G=
c.5455G= (p.Gly1819=)
c.4360G= (p.Gly1454=)
c.544G= (p.Gly182=)
c.97G= (p.Gly33=)
c.3949G= (p.Gly1317=)
n.5472G=
5g.13841829C>GCA359211845DNAH5c.5347G>C (p.Gly1783Arg)
c.5302G>C (p.Gly1768Arg)
n.5554G>C
c.5455G>C (p.Gly1819Arg)
c.4360G>C (p.Gly1454Arg)
c.544G>C (p.Gly182Arg)
c.97G>C (p.Gly33Arg)
c.3949G>C (p.Gly1317Arg)
n.5472G>C
5g.13841829C>TCA3203692DNAH5c.5347G>A (p.Gly1783Ser)
c.5302G>A (p.Gly1768Ser)
n.5554G>A
c.5455G>A (p.Gly1819Ser)
c.4360G>A (p.Gly1454Ser)
c.544G>A (p.Gly182Ser)
c.97G>A (p.Gly33Ser)
c.3949G>A (p.Gly1317Ser)
n.5472G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841830C>ACA3203693DNAH5c.5346G>T (p.Glu1782Asp)
c.5301G>T (p.Glu1767Asp)
n.5553G>T
c.5454G>T (p.Glu1818Asp)
c.4359G>T (p.Glu1453Asp)
c.543G>T (p.Glu181Asp)
c.96G>T (p.Glu32Asp)
c.3948G>T (p.Glu1316Asp)
n.5471G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841830C=CA1528458410DNAH5c.5346G= (p.Glu1782=)
c.5301G= (p.Glu1767=)
n.5553G=
c.5454G= (p.Glu1818=)
c.4359G= (p.Glu1453=)
c.543G= (p.Glu181=)
c.96G= (p.Glu32=)
c.3948G= (p.Glu1316=)
n.5471G=
5g.13841830C>GCA359211848DNAH5c.5346G>C (p.Glu1782Asp)
c.5301G>C (p.Glu1767Asp)
n.5553G>C
c.5454G>C (p.Glu1818Asp)
c.4359G>C (p.Glu1453Asp)
c.543G>C (p.Glu181Asp)
c.96G>C (p.Glu32Asp)
c.3948G>C (p.Glu1316Asp)
n.5471G>C
5g.13841830C>TCA443256442DNAH5c.5346G>A (p.Glu1782=)
c.5301G>A (p.Glu1767=)
n.5553G>A
c.5454G>A (p.Glu1818=)
c.4359G>A (p.Glu1453=)
c.543G>A (p.Glu181=)
c.96G>A (p.Glu32=)
c.3948G>A (p.Glu1316=)
n.5471G>A
 ClinVar
5g.13841831T>ACA359211856DNAH5c.5345A>T (p.Glu1782Val)
c.5300A>T (p.Glu1767Val)
n.5552A>T
c.5453A>T (p.Glu1818Val)
c.4358A>T (p.Glu1453Val)
c.542A>T (p.Glu181Val)
c.95A>T (p.Glu32Val)
c.3947A>T (p.Glu1316Val)
n.5470A>T
5g.13841831T>CCA359211854DNAH5c.5345A>G (p.Glu1782Gly)
c.5300A>G (p.Glu1767Gly)
n.5552A>G
c.5453A>G (p.Glu1818Gly)
c.4358A>G (p.Glu1453Gly)
c.542A>G (p.Glu181Gly)
c.95A>G (p.Glu32Gly)
c.3947A>G (p.Glu1316Gly)
n.5470A>G
5g.13841831T>GCA359211850DNAH5c.5345A>C (p.Glu1782Ala)
c.5300A>C (p.Glu1767Ala)
n.5552A>C
c.5453A>C (p.Glu1818Ala)
c.4358A>C (p.Glu1453Ala)
c.542A>C (p.Glu181Ala)
c.95A>C (p.Glu32Ala)
c.3947A>C (p.Glu1316Ala)
n.5470A>C
5g.13841832delCA2573138484DNAH5c.5344del (p.Glu1782ArgfsTer22)
c.5299del (p.Glu1767ArgfsTer22)
n.5551del
c.5452del (p.Glu1818ArgfsTer22)
c.4357del (p.Glu1453ArgfsTer22)
c.541del (p.Glu181ArgfsTer22)
c.94del (p.Glu32ArgfsTer22)
c.3946del (p.Glu1316ArgfsTer22)
n.5469del
 ClinVar dbSNP
5g.13841832C>ACA359211857DNAH5c.5344G>T (p.Glu1782Ter)
c.5299G>T (p.Glu1767Ter)
n.5551G>T
c.5452G>T (p.Glu1818Ter)
c.4357G>T (p.Glu1453Ter)
c.541G>T (p.Glu181Ter)
c.94G>T (p.Glu32Ter)
c.3946G>T (p.Glu1316Ter)
n.5469G>T
5g.13841832C>GCA359211858DNAH5c.5344G>C (p.Glu1782Gln)
c.5299G>C (p.Glu1767Gln)
n.5551G>C
c.5452G>C (p.Glu1818Gln)
c.4357G>C (p.Glu1453Gln)
c.541G>C (p.Glu181Gln)
c.94G>C (p.Glu32Gln)
c.3946G>C (p.Glu1316Gln)
n.5469G>C
5g.13841832C>TCA359211860DNAH5c.5344G>A (p.Glu1782Lys)
c.5299G>A (p.Glu1767Lys)
n.5551G>A
c.5452G>A (p.Glu1818Lys)
c.4357G>A (p.Glu1453Lys)
c.541G>A (p.Glu181Lys)
c.94G>A (p.Glu32Lys)
c.3946G>A (p.Glu1316Lys)
n.5469G>A
5g.13841833T>ACA443256446DNAH5c.5343A>T (p.Ala1781=)
c.5298A>T (p.Ala1766=)
n.5550A>T
c.5451A>T (p.Ala1817=)
c.4356A>T (p.Ala1452=)
c.540A>T (p.Ala180=)
c.93A>T (p.Ala31=)
c.3945A>T (p.Ala1315=)
n.5468A>T
5g.13841833T>CCA443256448DNAH5c.5343A>G (p.Ala1781=)
c.5298A>G (p.Ala1766=)
n.5550A>G
c.5451A>G (p.Ala1817=)
c.4356A>G (p.Ala1452=)
c.540A>G (p.Ala180=)
c.93A>G (p.Ala31=)
c.3945A>G (p.Ala1315=)
n.5468A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841833T>GCA443256450DNAH5c.5343A>C (p.Ala1781=)
c.5298A>C (p.Ala1766=)
n.5550A>C
c.5451A>C (p.Ala1817=)
c.4356A>C (p.Ala1452=)
c.540A>C (p.Ala180=)
c.93A>C (p.Ala31=)
c.3945A>C (p.Ala1315=)
n.5468A>C
5g.13841833T=CA1528458412DNAH5c.5343A= (p.Ala1781=)
c.5298A= (p.Ala1766=)
n.5550A=
c.5451A= (p.Ala1817=)
c.4356A= (p.Ala1452=)
c.540A= (p.Ala180=)
c.93A= (p.Ala31=)
c.3945A= (p.Ala1315=)
n.5468A=
5g.13841834G>ACA359211863DNAH5c.5342C>T (p.Ala1781Val)
c.5297C>T (p.Ala1766Val)
n.5549C>T
c.5450C>T (p.Ala1817Val)
c.4355C>T (p.Ala1452Val)
c.539C>T (p.Ala180Val)
c.92C>T (p.Ala31Val)
c.3944C>T (p.Ala1315Val)
n.5467C>T
 dbSNP gnomAD v4
5g.13841834G>CCA359211865DNAH5c.5342C>G (p.Ala1781Gly)
c.5297C>G (p.Ala1766Gly)
n.5549C>G
c.5450C>G (p.Ala1817Gly)
c.4355C>G (p.Ala1452Gly)
c.539C>G (p.Ala180Gly)
c.92C>G (p.Ala31Gly)
c.3944C>G (p.Ala1315Gly)
n.5467C>G
5g.13841834G=CA1528458413DNAH5c.5342C= (p.Ala1781=)
c.5297C= (p.Ala1766=)
n.5549C=
c.5450C= (p.Ala1817=)
c.4355C= (p.Ala1452=)
c.539C= (p.Ala180=)
c.92C= (p.Ala31=)
c.3944C= (p.Ala1315=)
n.5467C=
5g.13841834G>TCA359211867DNAH5c.5342C>A (p.Ala1781Glu)
c.5297C>A (p.Ala1766Glu)
n.5549C>A
c.5450C>A (p.Ala1817Glu)
c.4355C>A (p.Ala1452Glu)
c.539C>A (p.Ala180Glu)
c.92C>A (p.Ala31Glu)
c.3944C>A (p.Ala1315Glu)
n.5467C>A
5g.13841835C>ACA359211868DNAH5c.5341G>T (p.Ala1781Ser)
c.5296G>T (p.Ala1766Ser)
n.5548G>T
c.5449G>T (p.Ala1817Ser)
c.4354G>T (p.Ala1452Ser)
c.538G>T (p.Ala180Ser)
c.91G>T (p.Ala31Ser)
c.3943G>T (p.Ala1315Ser)
n.5466G>T
 dbSNP
5g.13841835C=CA1528458415DNAH5c.5341G= (p.Ala1781=)
c.5296G= (p.Ala1766=)
n.5548G=
c.5449G= (p.Ala1817=)
c.4354G= (p.Ala1452=)
c.538G= (p.Ala180=)
c.91G= (p.Ala31=)
c.3943G= (p.Ala1315=)
n.5466G=
5g.13841835C>GCA359211869DNAH5c.5341G>C (p.Ala1781Pro)
c.5296G>C (p.Ala1766Pro)
n.5548G>C
c.5449G>C (p.Ala1817Pro)
c.4354G>C (p.Ala1452Pro)
c.538G>C (p.Ala180Pro)
c.91G>C (p.Ala31Pro)
c.3943G>C (p.Ala1315Pro)
n.5466G>C
5g.13841835C>TCA359211870DNAH5c.5341G>A (p.Ala1781Thr)
c.5296G>A (p.Ala1766Thr)
n.5548G>A
c.5449G>A (p.Ala1817Thr)
c.4354G>A (p.Ala1452Thr)
c.538G>A (p.Ala180Thr)
c.91G>A (p.Ala31Thr)
c.3943G>A (p.Ala1315Thr)
n.5466G>A
5g.13841836C>ACA359211872DNAH5c.5340G>T (p.Met1780Ile)
c.5295G>T (p.Met1765Ile)
n.5547G>T
c.5448G>T (p.Met1816Ile)
c.4353G>T (p.Met1451Ile)
c.537G>T (p.Met179Ile)
c.90G>T (p.Met30Ile)
c.3942G>T (p.Met1314Ile)
n.5465G>T
5g.13841836C>GCA359211874DNAH5c.5340G>C (p.Met1780Ile)
c.5295G>C (p.Met1765Ile)
n.5547G>C
c.5448G>C (p.Met1816Ile)
c.4353G>C (p.Met1451Ile)
c.537G>C (p.Met179Ile)
c.90G>C (p.Met30Ile)
c.3942G>C (p.Met1314Ile)
n.5465G>C
5g.13841836C>TCA359211875DNAH5c.5340G>A (p.Met1780Ile)
c.5295G>A (p.Met1765Ile)
n.5547G>A
c.5448G>A (p.Met1816Ile)
c.4353G>A (p.Met1451Ile)
c.537G>A (p.Met179Ile)
c.90G>A (p.Met30Ile)
c.3942G>A (p.Met1314Ile)
n.5465G>A
5g.13841837A>CCA359211880DNAH5c.5339T>G (p.Met1780Arg)
c.5294T>G (p.Met1765Arg)
n.5546T>G
c.5447T>G (p.Met1816Arg)
c.4352T>G (p.Met1451Arg)
c.536T>G (p.Met179Arg)
c.89T>G (p.Met30Arg)
c.3941T>G (p.Met1314Arg)
n.5464T>G
5g.13841837A>GCA359211879DNAH5c.5339T>C (p.Met1780Thr)
c.5294T>C (p.Met1765Thr)
n.5546T>C
c.5447T>C (p.Met1816Thr)
c.4352T>C (p.Met1451Thr)
c.536T>C (p.Met179Thr)
c.89T>C (p.Met30Thr)
c.3941T>C (p.Met1314Thr)
n.5464T>C
 gnomAD v4
5g.13841837A>TCA359211877DNAH5c.5339T>A (p.Met1780Lys)
c.5294T>A (p.Met1765Lys)
n.5546T>A
c.5447T>A (p.Met1816Lys)
c.4352T>A (p.Met1451Lys)
c.536T>A (p.Met179Lys)
c.89T>A (p.Met30Lys)
c.3941T>A (p.Met1314Lys)
n.5464T>A
5g.13841838T>ACA113947790DNAH5c.5338A>T (p.Met1780Leu)
c.5293A>T (p.Met1765Leu)
n.5545A>T
c.5446A>T (p.Met1816Leu)
c.4351A>T (p.Met1451Leu)
c.535A>T (p.Met179Leu)
c.88A>T (p.Met30Leu)
c.3940A>T (p.Met1314Leu)
n.5463A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13841838T>CCA359211890DNAH5c.5338A>G (p.Met1780Val)
c.5293A>G (p.Met1765Val)
n.5545A>G
c.5446A>G (p.Met1816Val)
c.4351A>G (p.Met1451Val)
c.535A>G (p.Met179Val)
c.88A>G (p.Met30Val)
c.3940A>G (p.Met1314Val)
n.5463A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841838T>GCA359211888DNAH5c.5338A>C (p.Met1780Leu)
c.5293A>C (p.Met1765Leu)
n.5545A>C
c.5446A>C (p.Met1816Leu)
c.4351A>C (p.Met1451Leu)
c.535A>C (p.Met179Leu)
c.88A>C (p.Met30Leu)
c.3940A>C (p.Met1314Leu)
n.5463A>C
5g.13841838T=CA1528458416DNAH5c.5338A= (p.Met1780=)
c.5293A= (p.Met1765=)
n.5545A=
c.5446A= (p.Met1816=)
c.4351A= (p.Met1451=)
c.535A= (p.Met179=)
c.88A= (p.Met30=)
c.3940A= (p.Met1314=)
n.5463A=
5g.13841839G>ACA443256466DNAH5c.5337C>T (p.Val1779=)
c.5292C>T (p.Val1764=)
n.5544C>T
c.5445C>T (p.Val1815=)
c.4350C>T (p.Val1450=)
c.534C>T (p.Val178=)
c.87C>T (p.Val29=)
c.3939C>T (p.Val1313=)
n.5462C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13841839G>CCA443256467DNAH5c.5337C>G (p.Val1779=)
c.5292C>G (p.Val1764=)
n.5544C>G
c.5445C>G (p.Val1815=)
c.4350C>G (p.Val1450=)
c.534C>G (p.Val178=)
c.87C>G (p.Val29=)
c.3939C>G (p.Val1313=)
n.5462C>G
5g.13841839G=CA1528458418DNAH5c.5337C= (p.Val1779=)
c.5292C= (p.Val1764=)
n.5544C=
c.5445C= (p.Val1815=)
c.4350C= (p.Val1450=)
c.534C= (p.Val178=)
c.87C= (p.Val29=)
c.3939C= (p.Val1313=)
n.5462C=
5g.13841839G>TCA443256468DNAH5c.5337C>A (p.Val1779=)
c.5292C>A (p.Val1764=)
n.5544C>A
c.5445C>A (p.Val1815=)
c.4350C>A (p.Val1450=)
c.534C>A (p.Val178=)
c.87C>A (p.Val29=)
c.3939C>A (p.Val1313=)
n.5462C>A
 gnomAD v4
5g.13841840A>CCA359212256DNAH5c.5336T>G (p.Val1779Gly)
c.5291T>G (p.Val1764Gly)
n.5543T>G
c.5444T>G (p.Val1815Gly)
c.4349T>G (p.Val1450Gly)
c.533T>G (p.Val178Gly)
c.86T>G (p.Val29Gly)
c.3938T>G (p.Val1313Gly)
n.5461T>G
5g.13841840A>GCA359212259DNAH5c.5336T>C (p.Val1779Ala)
c.5291T>C (p.Val1764Ala)
n.5543T>C
c.5444T>C (p.Val1815Ala)
c.4349T>C (p.Val1450Ala)
c.533T>C (p.Val178Ala)
c.86T>C (p.Val29Ala)
c.3938T>C (p.Val1313Ala)
n.5461T>C
5g.13841840A>TCA359212261DNAH5c.5336T>A (p.Val1779Asp)
c.5291T>A (p.Val1764Asp)
n.5543T>A
c.5444T>A (p.Val1815Asp)
c.4349T>A (p.Val1450Asp)
c.533T>A (p.Val178Asp)
c.86T>A (p.Val29Asp)
c.3938T>A (p.Val1313Asp)
n.5461T>A
5g.13841841C>ACA359212263DNAH5c.5335G>T (p.Val1779Phe)
c.5290G>T (p.Val1764Phe)
n.5542G>T
c.5443G>T (p.Val1815Phe)
c.4348G>T (p.Val1450Phe)
c.532G>T (p.Val178Phe)
c.85G>T (p.Val29Phe)
c.3937G>T (p.Val1313Phe)
n.5460G>T
5g.13841841C>GCA359212265DNAH5c.5335G>C (p.Val1779Leu)
c.5290G>C (p.Val1764Leu)
n.5542G>C
c.5443G>C (p.Val1815Leu)
c.4348G>C (p.Val1450Leu)
c.532G>C (p.Val178Leu)
c.85G>C (p.Val29Leu)
c.3937G>C (p.Val1313Leu)
n.5460G>C
5g.13841841C>TCA359212267DNAH5c.5335G>A (p.Val1779Ile)
c.5290G>A (p.Val1764Ile)
n.5542G>A
c.5443G>A (p.Val1815Ile)
c.4348G>A (p.Val1450Ile)
c.532G>A (p.Val178Ile)
c.85G>A (p.Val29Ile)
c.3937G>A (p.Val1313Ile)
n.5460G>A
 gnomAD v4
5g.13841842A>CCA443256795DNAH5c.5334T>G (p.Pro1778=)
c.5289T>G (p.Pro1763=)
n.5541T>G
c.5442T>G (p.Pro1814=)
c.4347T>G (p.Pro1449=)
c.531T>G (p.Pro177=)
c.84T>G (p.Pro28=)
c.3936T>G (p.Pro1312=)
n.5459T>G
5g.13841842A>GCA443256797DNAH5c.5334T>C (p.Pro1778=)
c.5289T>C (p.Pro1763=)
n.5541T>C
c.5442T>C (p.Pro1814=)
c.4347T>C (p.Pro1449=)
c.531T>C (p.Pro177=)
c.84T>C (p.Pro28=)
c.3936T>C (p.Pro1312=)
n.5459T>C
5g.13841842A>TCA443256798DNAH5c.5334T>A (p.Pro1778=)
c.5289T>A (p.Pro1763=)
n.5541T>A
c.5442T>A (p.Pro1814=)
c.4347T>A (p.Pro1449=)
c.531T>A (p.Pro177=)
c.84T>A (p.Pro28=)
c.3936T>A (p.Pro1312=)
n.5459T>A
5g.13841843G>ACA359212270DNAH5c.5333C>T (p.Pro1778Leu)
c.5288C>T (p.Pro1763Leu)
n.5540C>T
c.5441C>T (p.Pro1814Leu)
c.4346C>T (p.Pro1449Leu)
c.530C>T (p.Pro177Leu)
c.83C>T (p.Pro28Leu)
c.3935C>T (p.Pro1312Leu)
n.5458C>T
5g.13841843G>CCA3203694DNAH5c.5333C>G (p.Pro1778Arg)
c.5288C>G (p.Pro1763Arg)
n.5540C>G
c.5441C>G (p.Pro1814Arg)
c.4346C>G (p.Pro1449Arg)
c.530C>G (p.Pro177Arg)
c.83C>G (p.Pro28Arg)
c.3935C>G (p.Pro1312Arg)
n.5458C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841843G=CA1528458419DNAH5c.5333C= (p.Pro1778=)
c.5288C= (p.Pro1763=)
n.5540C=
c.5441C= (p.Pro1814=)
c.4346C= (p.Pro1449=)
c.530C= (p.Pro177=)
c.83C= (p.Pro28=)
c.3935C= (p.Pro1312=)
n.5458C=
5g.13841843G>TCA359212273DNAH5c.5333C>A (p.Pro1778His)
c.5288C>A (p.Pro1763His)
n.5540C>A
c.5441C>A (p.Pro1814His)
c.4346C>A (p.Pro1449His)
c.530C>A (p.Pro177His)
c.83C>A (p.Pro28His)
c.3935C>A (p.Pro1312His)
n.5458C>A
5g.13841844G>ACA359212275DNAH5c.5332C>T (p.Pro1778Ser)
c.5287C>T (p.Pro1763Ser)
n.5539C>T
c.5440C>T (p.Pro1814Ser)
c.4345C>T (p.Pro1449Ser)
c.529C>T (p.Pro177Ser)
c.82C>T (p.Pro28Ser)
c.3934C>T (p.Pro1312Ser)
n.5457C>T
 gnomAD v4
5g.13841844G>CCA359212277DNAH5c.5332C>G (p.Pro1778Ala)
c.5287C>G (p.Pro1763Ala)
n.5539C>G
c.5440C>G (p.Pro1814Ala)
c.4345C>G (p.Pro1449Ala)
c.529C>G (p.Pro177Ala)
c.82C>G (p.Pro28Ala)
c.3934C>G (p.Pro1312Ala)
n.5457C>G
 ClinVar dbSNP
5g.13841844G=CA1528458421DNAH5c.5332C= (p.Pro1778=)
c.5287C= (p.Pro1763=)
n.5539C=
c.5440C= (p.Pro1814=)
c.4345C= (p.Pro1449=)
c.529C= (p.Pro177=)
c.82C= (p.Pro28=)
c.3934C= (p.Pro1312=)
n.5457C=
5g.13841844G>TCA359212279DNAH5c.5332C>A (p.Pro1778Thr)
c.5287C>A (p.Pro1763Thr)
n.5539C>A
c.5440C>A (p.Pro1814Thr)
c.4345C>A (p.Pro1449Thr)
c.529C>A (p.Pro177Thr)
c.82C>A (p.Pro28Thr)
c.3934C>A (p.Pro1312Thr)
n.5457C>A
5g.13841845T>ACA359212282DNAH5c.5331A>T (p.Lys1777Asn)
c.5286A>T (p.Lys1762Asn)
n.5538A>T
c.5439A>T (p.Lys1813Asn)
c.4344A>T (p.Lys1448Asn)
c.528A>T (p.Lys176Asn)
c.81A>T (p.Lys27Asn)
c.3933A>T (p.Lys1311Asn)
n.5456A>T
5g.13841845T>CCA443256803DNAH5c.5331A>G (p.Lys1777=)
c.5286A>G (p.Lys1762=)
n.5538A>G
c.5439A>G (p.Lys1813=)
c.4344A>G (p.Lys1448=)
c.528A>G (p.Lys176=)
c.81A>G (p.Lys27=)
c.3933A>G (p.Lys1311=)
n.5456A>G
 COSMIC
5g.13841845T>GCA359212283DNAH5c.5331A>C (p.Lys1777Asn)
c.5286A>C (p.Lys1762Asn)
n.5538A>C
c.5439A>C (p.Lys1813Asn)
c.4344A>C (p.Lys1448Asn)
c.528A>C (p.Lys176Asn)
c.81A>C (p.Lys27Asn)
c.3933A>C (p.Lys1311Asn)
n.5456A>C
5g.13841846T>ACA3203695DNAH5c.5330A>T (p.Lys1777Ile)
c.5285A>T (p.Lys1762Ile)
n.5537A>T
c.5438A>T (p.Lys1813Ile)
c.4343A>T (p.Lys1448Ile)
c.527A>T (p.Lys176Ile)
c.80A>T (p.Lys27Ile)
c.3932A>T (p.Lys1311Ile)
n.5455A>T
 dbSNP ExAC gnomAD v2
5g.13841846T>CCA359212286DNAH5c.5330A>G (p.Lys1777Arg)
c.5285A>G (p.Lys1762Arg)
n.5537A>G
c.5438A>G (p.Lys1813Arg)
c.4343A>G (p.Lys1448Arg)
c.527A>G (p.Lys176Arg)
c.80A>G (p.Lys27Arg)
c.3932A>G (p.Lys1311Arg)
n.5455A>G
5g.13841846T>GCA359212287DNAH5c.5330A>C (p.Lys1777Thr)
c.5285A>C (p.Lys1762Thr)
n.5537A>C
c.5438A>C (p.Lys1813Thr)
c.4343A>C (p.Lys1448Thr)
c.527A>C (p.Lys176Thr)
c.80A>C (p.Lys27Thr)
c.3932A>C (p.Lys1311Thr)
n.5455A>C
5g.13841846T=CA1528458423DNAH5c.5330A= (p.Lys1777=)
c.5285A= (p.Lys1762=)
n.5537A=
c.5438A= (p.Lys1813=)
c.4343A= (p.Lys1448=)
c.527A= (p.Lys176=)
c.80A= (p.Lys27=)
c.3932A= (p.Lys1311=)
n.5455A=
5g.13841847T>ACA359212290DNAH5c.5329A>T (p.Lys1777Ter)
c.5284A>T (p.Lys1762Ter)
n.5536A>T
c.5437A>T (p.Lys1813Ter)
c.4342A>T (p.Lys1448Ter)
c.526A>T (p.Lys176Ter)
c.79A>T (p.Lys27Ter)
c.3931A>T (p.Lys1311Ter)
n.5454A>T
5g.13841847T>CCA359212292DNAH5c.5329A>G (p.Lys1777Glu)
c.5284A>G (p.Lys1762Glu)
n.5536A>G
c.5437A>G (p.Lys1813Glu)
c.4342A>G (p.Lys1448Glu)
c.526A>G (p.Lys176Glu)
c.79A>G (p.Lys27Glu)
c.3931A>G (p.Lys1311Glu)
n.5454A>G
5g.13841847T>GCA359212293DNAH5c.5329A>C (p.Lys1777Gln)
c.5284A>C (p.Lys1762Gln)
n.5536A>C
c.5437A>C (p.Lys1813Gln)
c.4342A>C (p.Lys1448Gln)
c.526A>C (p.Lys176Gln)
c.79A>C (p.Lys27Gln)
c.3931A>C (p.Lys1311Gln)
n.5454A>C
5g.13841848A>CCA359212296DNAH5c.5328T>G (p.Asp1776Glu)
c.5283T>G (p.Asp1761Glu)
n.5535T>G
c.5436T>G (p.Asp1812Glu)
c.4341T>G (p.Asp1447Glu)
c.525T>G (p.Asp175Glu)
c.78T>G (p.Asp26Glu)
c.3930T>G (p.Asp1310Glu)
n.5453T>G
5g.13841848A>GCA443256817DNAH5c.5328T>C (p.Asp1776=)
c.5283T>C (p.Asp1761=)
n.5535T>C
c.5436T>C (p.Asp1812=)
c.4341T>C (p.Asp1447=)
c.525T>C (p.Asp175=)
c.78T>C (p.Asp26=)
c.3930T>C (p.Asp1310=)
n.5453T>C
5g.13841848A>TCA359212298DNAH5c.5328T>A (p.Asp1776Glu)
c.5283T>A (p.Asp1761Glu)
n.5535T>A
c.5436T>A (p.Asp1812Glu)
c.4341T>A (p.Asp1447Glu)
c.525T>A (p.Asp175Glu)
c.78T>A (p.Asp26Glu)
c.3930T>A (p.Asp1310Glu)
n.5453T>A
5g.13841849T>ACA359212300DNAH5c.5327A>T (p.Asp1776Val)
c.5282A>T (p.Asp1761Val)
n.5534A>T
c.5435A>T (p.Asp1812Val)
c.4340A>T (p.Asp1447Val)
c.524A>T (p.Asp175Val)
c.77A>T (p.Asp26Val)
c.3929A>T (p.Asp1310Val)
n.5452A>T
 gnomAD v4
5g.13841849T>CCA3203696DNAH5c.5327A>G (p.Asp1776Gly)
c.5282A>G (p.Asp1761Gly)
n.5534A>G
c.5435A>G (p.Asp1812Gly)
c.4340A>G (p.Asp1447Gly)
c.524A>G (p.Asp175Gly)
c.77A>G (p.Asp26Gly)
c.3929A>G (p.Asp1310Gly)
n.5452A>G
 dbSNP ExAC gnomAD v2
5g.13841849T>GCA359212302DNAH5c.5327A>C (p.Asp1776Ala)
c.5282A>C (p.Asp1761Ala)
n.5534A>C
c.5435A>C (p.Asp1812Ala)
c.4340A>C (p.Asp1447Ala)
c.524A>C (p.Asp175Ala)
c.77A>C (p.Asp26Ala)
c.3929A>C (p.Asp1310Ala)
n.5452A>C
5g.13841849T=CA1528458425DNAH5c.5327A= (p.Asp1776=)
c.5282A= (p.Asp1761=)
n.5534A=
c.5435A= (p.Asp1812=)
c.4340A= (p.Asp1447=)
c.524A= (p.Asp175=)
c.77A= (p.Asp26=)
c.3929A= (p.Asp1310=)
n.5452A=
5g.13841850C>ACA359212305DNAH5c.5326G>T (p.Asp1776Tyr)
c.5281G>T (p.Asp1761Tyr)
n.5533G>T
c.5434G>T (p.Asp1812Tyr)
c.4339G>T (p.Asp1447Tyr)
c.523G>T (p.Asp175Tyr)
c.76G>T (p.Asp26Tyr)
c.3928G>T (p.Asp1310Tyr)
n.5451G>T
5g.13841850C=CA1528458426DNAH5c.5326G= (p.Asp1776=)
c.5281G= (p.Asp1761=)
n.5533G=
c.5434G= (p.Asp1812=)
c.4339G= (p.Asp1447=)
c.523G= (p.Asp175=)
c.76G= (p.Asp26=)
c.3928G= (p.Asp1310=)
n.5451G=
5g.13841850C>GCA359212307DNAH5c.5326G>C (p.Asp1776His)
c.5281G>C (p.Asp1761His)
n.5533G>C
c.5434G>C (p.Asp1812His)
c.4339G>C (p.Asp1447His)
c.523G>C (p.Asp175His)
c.76G>C (p.Asp26His)
c.3928G>C (p.Asp1310His)
n.5451G>C
5g.13841850C>TCA3203697DNAH5c.5326G>A (p.Asp1776Asn)
c.5281G>A (p.Asp1761Asn)
n.5533G>A
c.5434G>A (p.Asp1812Asn)
c.4339G>A (p.Asp1447Asn)
c.523G>A (p.Asp175Asn)
c.76G>A (p.Asp26Asn)
c.3928G>A (p.Asp1310Asn)
n.5451G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841851delCA2580072091DNAH5c.5326del (p.Asp1776IlefsTer28)
c.5281del (p.Asp1761IlefsTer28)
n.5533del
c.5434del (p.Asp1812IlefsTer28)
c.4339del (p.Asp1447IlefsTer28)
c.523del (p.Asp175IlefsTer28)
c.76del (p.Asp26IlefsTer28)
c.3928del (p.Asp1310IlefsTer28)
n.5451del
 ClinVar gnomAD v4
5g.13841851C>ACA359212309DNAH5c.5325G>T (p.Leu1775Phe)
c.5280G>T (p.Leu1760Phe)
n.5532G>T
c.5433G>T (p.Leu1811Phe)
c.4338G>T (p.Leu1446Phe)
c.522G>T (p.Leu174Phe)
c.75G>T (p.Leu25Phe)
c.3927G>T (p.Leu1309Phe)
n.5450G>T
5g.13841851C=CA1528458428DNAH5c.5325G= (p.Leu1775=)
c.5280G= (p.Leu1760=)
n.5532G=
c.5433G= (p.Leu1811=)
c.4338G= (p.Leu1446=)
c.522G= (p.Leu174=)
c.75G= (p.Leu25=)
c.3927G= (p.Leu1309=)
n.5450G=
5g.13841851C>GCA359212310DNAH5c.5325G>C (p.Leu1775Phe)
c.5280G>C (p.Leu1760Phe)
n.5532G>C
c.5433G>C (p.Leu1811Phe)
c.4338G>C (p.Leu1446Phe)
c.522G>C (p.Leu174Phe)
c.75G>C (p.Leu25Phe)
c.3927G>C (p.Leu1309Phe)
n.5450G>C
5g.13841851C>TCA443256829DNAH5c.5325G>A (p.Leu1775=)
c.5280G>A (p.Leu1760=)
n.5532G>A
c.5433G>A (p.Leu1811=)
c.4338G>A (p.Leu1446=)
c.522G>A (p.Leu174=)
c.75G>A (p.Leu25=)
c.3927G>A (p.Leu1309=)
n.5450G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841852A>CCA359212312DNAH5c.5324T>G (p.Leu1775Trp)
c.5279T>G (p.Leu1760Trp)
n.5531T>G
c.5432T>G (p.Leu1811Trp)
c.4337T>G (p.Leu1446Trp)
c.521T>G (p.Leu174Trp)
c.74T>G (p.Leu25Trp)
c.3926T>G (p.Leu1309Trp)
n.5449T>G
5g.13841852A>GCA359212314DNAH5c.5324T>C (p.Leu1775Ser)
c.5279T>C (p.Leu1760Ser)
n.5531T>C
c.5432T>C (p.Leu1811Ser)
c.4337T>C (p.Leu1446Ser)
c.521T>C (p.Leu174Ser)
c.74T>C (p.Leu25Ser)
c.3926T>C (p.Leu1309Ser)
n.5449T>C
5g.13841852A>TCA359212316DNAH5c.5324T>A (p.Leu1775Ter)
c.5279T>A (p.Leu1760Ter)
n.5531T>A
c.5432T>A (p.Leu1811Ter)
c.4337T>A (p.Leu1446Ter)
c.521T>A (p.Leu174Ter)
c.74T>A (p.Leu25Ter)
c.3926T>A (p.Leu1309Ter)
n.5449T>A
5g.13841853A=CA1528458429DNAH5c.5323T= (p.Leu1775=)
c.5278T= (p.Leu1760=)
n.5530T=
c.5431T= (p.Leu1811=)
c.4336T= (p.Leu1446=)
c.520T= (p.Leu174=)
c.73T= (p.Leu25=)
c.3925T= (p.Leu1309=)
n.5448T=
5g.13841853A>CCA359212318DNAH5c.5323T>G (p.Leu1775Val)
c.5278T>G (p.Leu1760Val)
n.5530T>G
c.5431T>G (p.Leu1811Val)
c.4336T>G (p.Leu1446Val)
c.520T>G (p.Leu174Val)
c.73T>G (p.Leu25Val)
c.3925T>G (p.Leu1309Val)
n.5448T>G
5g.13841853A>GCA3203698DNAH5c.5323T>C (p.Leu1775=)
c.5278T>C (p.Leu1760=)
n.5530T>C
c.5431T>C (p.Leu1811=)
c.4336T>C (p.Leu1446=)
c.520T>C (p.Leu174=)
c.73T>C (p.Leu25=)
c.3925T>C (p.Leu1309=)
n.5448T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841853A>TCA359212321DNAH5c.5323T>A (p.Leu1775Met)
c.5278T>A (p.Leu1760Met)
n.5530T>A
c.5431T>A (p.Leu1811Met)
c.4336T>A (p.Leu1446Met)
c.520T>A (p.Leu174Met)
c.73T>A (p.Leu25Met)
c.3925T>A (p.Leu1309Met)
n.5448T>A
 gnomAD v4
5g.13841854T>ACA359212323DNAH5c.5322A>T (p.Glu1774Asp)
c.5277A>T (p.Glu1759Asp)
n.5529A>T
c.5430A>T (p.Glu1810Asp)
c.4335A>T (p.Glu1445Asp)
c.519A>T (p.Glu173Asp)
c.72A>T (p.Glu24Asp)
c.3924A>T (p.Glu1308Asp)
n.5447A>T
5g.13841854T>CCA443256839DNAH5c.5322A>G (p.Glu1774=)
c.5277A>G (p.Glu1759=)
n.5529A>G
c.5430A>G (p.Glu1810=)
c.4335A>G (p.Glu1445=)
c.519A>G (p.Glu173=)
c.72A>G (p.Glu24=)
c.3924A>G (p.Glu1308=)
n.5447A>G
 gnomAD v4
5g.13841854T>GCA359212324DNAH5c.5322A>C (p.Glu1774Asp)
c.5277A>C (p.Glu1759Asp)
n.5529A>C
c.5430A>C (p.Glu1810Asp)
c.4335A>C (p.Glu1445Asp)
c.519A>C (p.Glu173Asp)
c.72A>C (p.Glu24Asp)
c.3924A>C (p.Glu1308Asp)
n.5447A>C
5g.13841855T>ACA359212327DNAH5c.5321A>T (p.Glu1774Val)
c.5276A>T (p.Glu1759Val)
n.5528A>T
c.5429A>T (p.Glu1810Val)
c.4334A>T (p.Glu1445Val)
c.518A>T (p.Glu173Val)
c.71A>T (p.Glu24Val)
c.3923A>T (p.Glu1308Val)
n.5446A>T
5g.13841855T>CCA359212328DNAH5c.5321A>G (p.Glu1774Gly)
c.5276A>G (p.Glu1759Gly)
n.5528A>G
c.5429A>G (p.Glu1810Gly)
c.4334A>G (p.Glu1445Gly)
c.518A>G (p.Glu173Gly)
c.71A>G (p.Glu24Gly)
c.3923A>G (p.Glu1308Gly)
n.5446A>G
5g.13841855T>GCA359212329DNAH5c.5321A>C (p.Glu1774Ala)
c.5276A>C (p.Glu1759Ala)
n.5528A>C
c.5429A>C (p.Glu1810Ala)
c.4334A>C (p.Glu1445Ala)
c.518A>C (p.Glu173Ala)
c.71A>C (p.Glu24Ala)
c.3923A>C (p.Glu1308Ala)
n.5446A>C
5g.13841856C>ACA359212336DNAH5c.5320G>T (p.Glu1774Ter)
c.5275G>T (p.Glu1759Ter)
n.5527G>T
c.5428G>T (p.Glu1810Ter)
c.4333G>T (p.Glu1445Ter)
c.517G>T (p.Glu173Ter)
c.70G>T (p.Glu24Ter)
c.3922G>T (p.Glu1308Ter)
n.5445G>T
5g.13841856C>GCA359212334DNAH5c.5320G>C (p.Glu1774Gln)
c.5275G>C (p.Glu1759Gln)
n.5527G>C
c.5428G>C (p.Glu1810Gln)
c.4333G>C (p.Glu1445Gln)
c.517G>C (p.Glu173Gln)
c.70G>C (p.Glu24Gln)
c.3922G>C (p.Glu1308Gln)
n.5445G>C
5g.13841856C>TCA359212332DNAH5c.5320G>A (p.Glu1774Lys)
c.5275G>A (p.Glu1759Lys)
n.5527G>A
c.5428G>A (p.Glu1810Lys)
c.4333G>A (p.Glu1445Lys)
c.517G>A (p.Glu173Lys)
c.70G>A (p.Glu24Lys)
c.3922G>A (p.Glu1308Lys)
n.5445G>A
 gnomAD v4 COSMIC
5g.13841857A>CCA359212338DNAH5c.5319T>G (p.Ile1773Met)
c.5274T>G (p.Ile1758Met)
n.5526T>G
c.5427T>G (p.Ile1809Met)
c.4332T>G (p.Ile1444Met)
c.516T>G (p.Ile172Met)
c.69T>G (p.Ile23Met)
c.3921T>G (p.Ile1307Met)
n.5444T>G
5g.13841857A>GCA443256849DNAH5c.5319T>C (p.Ile1773=)
c.5274T>C (p.Ile1758=)
n.5526T>C
c.5427T>C (p.Ile1809=)
c.4332T>C (p.Ile1444=)
c.516T>C (p.Ile172=)
c.69T>C (p.Ile23=)
c.3921T>C (p.Ile1307=)
n.5444T>C
5g.13841857A>TCA443256855DNAH5c.5319T>A (p.Ile1773=)
c.5274T>A (p.Ile1758=)
n.5526T>A
c.5427T>A (p.Ile1809=)
c.4332T>A (p.Ile1444=)
c.516T>A (p.Ile172=)
c.69T>A (p.Ile23=)
c.3921T>A (p.Ile1307=)
n.5444T>A
 ClinVar
5g.13841858A>CCA359212340DNAH5c.5318T>G (p.Ile1773Ser)
c.5273T>G (p.Ile1758Ser)
n.5525T>G
c.5426T>G (p.Ile1809Ser)
c.4331T>G (p.Ile1444Ser)
c.515T>G (p.Ile172Ser)
c.68T>G (p.Ile23Ser)
c.3920T>G (p.Ile1307Ser)
n.5443T>G
5g.13841858A>GCA359212342DNAH5c.5318T>C (p.Ile1773Thr)
c.5273T>C (p.Ile1758Thr)
n.5525T>C
c.5426T>C (p.Ile1809Thr)
c.4331T>C (p.Ile1444Thr)
c.515T>C (p.Ile172Thr)
c.68T>C (p.Ile23Thr)
c.3920T>C (p.Ile1307Thr)
n.5443T>C
5g.13841858A>TCA359212343DNAH5c.5318T>A (p.Ile1773Asn)
c.5273T>A (p.Ile1758Asn)
n.5525T>A
c.5426T>A (p.Ile1809Asn)
c.4331T>A (p.Ile1444Asn)
c.515T>A (p.Ile172Asn)
c.68T>A (p.Ile23Asn)
c.3920T>A (p.Ile1307Asn)
n.5443T>A
5g.13841859T>ACA359212345DNAH5c.5317A>T (p.Ile1773Phe)
c.5272A>T (p.Ile1758Phe)
n.5524A>T
c.5425A>T (p.Ile1809Phe)
c.4330A>T (p.Ile1444Phe)
c.514A>T (p.Ile172Phe)
c.67A>T (p.Ile23Phe)
c.3919A>T (p.Ile1307Phe)
n.5442A>T
5g.13841859T>CCA359212347DNAH5c.5317A>G (p.Ile1773Val)
c.5272A>G (p.Ile1758Val)
n.5524A>G
c.5425A>G (p.Ile1809Val)
c.4330A>G (p.Ile1444Val)
c.514A>G (p.Ile172Val)
c.67A>G (p.Ile23Val)
c.3919A>G (p.Ile1307Val)
n.5442A>G
5g.13841859T>GCA359212349DNAH5c.5317A>C (p.Ile1773Leu)
c.5272A>C (p.Ile1758Leu)
n.5524A>C
c.5425A>C (p.Ile1809Leu)
c.4330A>C (p.Ile1444Leu)
c.514A>C (p.Ile172Leu)
c.67A>C (p.Ile23Leu)
c.3919A>C (p.Ile1307Leu)
n.5442A>C
5g.13841860C>ACA443256860DNAH5c.5316G>T (p.Thr1772=)
c.5271G>T (p.Thr1757=)
n.5523G>T
c.5424G>T (p.Thr1808=)
c.4329G>T (p.Thr1443=)
c.513G>T (p.Thr171=)
c.66G>T (p.Thr22=)
c.3918G>T (p.Thr1306=)
n.5441G>T
5g.13841860C=CA1528458430DNAH5c.5316G= (p.Thr1772=)
c.5271G= (p.Thr1757=)
n.5523G=
c.5424G= (p.Thr1808=)
c.4329G= (p.Thr1443=)
c.513G= (p.Thr171=)
c.66G= (p.Thr22=)
c.3918G= (p.Thr1306=)
n.5441G=
5g.13841860C>GCA443256866DNAH5c.5316G>C (p.Thr1772=)
c.5271G>C (p.Thr1757=)
n.5523G>C
c.5424G>C (p.Thr1808=)
c.4329G>C (p.Thr1443=)
c.513G>C (p.Thr171=)
c.66G>C (p.Thr22=)
c.3918G>C (p.Thr1306=)
n.5441G>C
5g.13841860C>TCA443256867DNAH5c.5316G>A (p.Thr1772=)
c.5271G>A (p.Thr1757=)
n.5523G>A
c.5424G>A (p.Thr1808=)
c.4329G>A (p.Thr1443=)
c.513G>A (p.Thr171=)
c.66G>A (p.Thr22=)
c.3918G>A (p.Thr1306=)
n.5441G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13841861G>ACA3203699DNAH5c.5315C>T (p.Thr1772Met)
c.5270C>T (p.Thr1757Met)
n.5522C>T
c.5423C>T (p.Thr1808Met)
c.4328C>T (p.Thr1443Met)
c.512C>T (p.Thr171Met)
c.65C>T (p.Thr22Met)
c.3917C>T (p.Thr1306Met)
n.5440C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841861G>CCA3203700DNAH5c.5315C>G (p.Thr1772Arg)
c.5270C>G (p.Thr1757Arg)
n.5522C>G
c.5423C>G (p.Thr1808Arg)
c.4328C>G (p.Thr1443Arg)
c.512C>G (p.Thr171Arg)
c.65C>G (p.Thr22Arg)
c.3917C>G (p.Thr1306Arg)
n.5440C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841861G=CA1528458432DNAH5c.5315C= (p.Thr1772=)
c.5270C= (p.Thr1757=)
n.5522C=
c.5423C= (p.Thr1808=)
c.4328C= (p.Thr1443=)
c.512C= (p.Thr171=)
c.65C= (p.Thr22=)
c.3917C= (p.Thr1306=)
n.5440C=
5g.13841861G>TCA359212353DNAH5c.5315C>A (p.Thr1772Lys)
c.5270C>A (p.Thr1757Lys)
n.5522C>A
c.5423C>A (p.Thr1808Lys)
c.4328C>A (p.Thr1443Lys)
c.512C>A (p.Thr171Lys)
c.65C>A (p.Thr22Lys)
c.3917C>A (p.Thr1306Lys)
n.5440C>A
 gnomAD v4
5g.13841862T>ACA359212355DNAH5c.5314A>T (p.Thr1772Ser)
c.5269A>T (p.Thr1757Ser)
n.5521A>T
c.5422A>T (p.Thr1808Ser)
c.4327A>T (p.Thr1443Ser)
c.511A>T (p.Thr171Ser)
c.64A>T (p.Thr22Ser)
c.3916A>T (p.Thr1306Ser)
n.5439A>T
5g.13841862T>CCA359212357DNAH5c.5314A>G (p.Thr1772Ala)
c.5269A>G (p.Thr1757Ala)
n.5521A>G
c.5422A>G (p.Thr1808Ala)
c.4327A>G (p.Thr1443Ala)
c.511A>G (p.Thr171Ala)
c.64A>G (p.Thr22Ala)
c.3916A>G (p.Thr1306Ala)
n.5439A>G
 gnomAD v4
5g.13841862T>GCA359212359DNAH5c.5314A>C (p.Thr1772Pro)
c.5269A>C (p.Thr1757Pro)
n.5521A>C
c.5422A>C (p.Thr1808Pro)
c.4327A>C (p.Thr1443Pro)
c.511A>C (p.Thr171Pro)
c.64A>C (p.Thr22Pro)
c.3916A>C (p.Thr1306Pro)
n.5439A>C
5g.13841863C>ACA359212362DNAH5c.5313G>T (p.Glu1771Asp)
c.5268G>T (p.Glu1756Asp)
n.5520G>T
c.5421G>T (p.Glu1807Asp)
c.4326G>T (p.Glu1442Asp)
c.510G>T (p.Glu170Asp)
c.63G>T (p.Glu21Asp)
c.3915G>T (p.Glu1305Asp)
n.5438G>T
5g.13841863C>GCA359212361DNAH5c.5313G>C (p.Glu1771Asp)
c.5268G>C (p.Glu1756Asp)
n.5520G>C
c.5421G>C (p.Glu1807Asp)
c.4326G>C (p.Glu1442Asp)
c.510G>C (p.Glu170Asp)
c.63G>C (p.Glu21Asp)
c.3915G>C (p.Glu1305Asp)
n.5438G>C
5g.13841863C>TCA443256878DNAH5c.5313G>A (p.Glu1771=)
c.5268G>A (p.Glu1756=)
n.5520G>A
c.5421G>A (p.Glu1807=)
c.4326G>A (p.Glu1442=)
c.510G>A (p.Glu170=)
c.63G>A (p.Glu21=)
c.3915G>A (p.Glu1305=)
n.5438G>A
5g.13841864T>ACA359212365DNAH5c.5312A>T (p.Glu1771Val)
c.5267A>T (p.Glu1756Val)
n.5519A>T
c.5420A>T (p.Glu1807Val)
c.4325A>T (p.Glu1442Val)
c.509A>T (p.Glu170Val)
c.62A>T (p.Glu21Val)
c.3914A>T (p.Glu1305Val)
n.5437A>T
5g.13841864T>CCA359212367DNAH5c.5312A>G (p.Glu1771Gly)
c.5267A>G (p.Glu1756Gly)
n.5519A>G
c.5420A>G (p.Glu1807Gly)
c.4325A>G (p.Glu1442Gly)
c.509A>G (p.Glu170Gly)
c.62A>G (p.Glu21Gly)
c.3914A>G (p.Glu1305Gly)
n.5437A>G
5g.13841864T>GCA359212366DNAH5c.5312A>C (p.Glu1771Ala)
c.5267A>C (p.Glu1756Ala)
n.5519A>C
c.5420A>C (p.Glu1807Ala)
c.4325A>C (p.Glu1442Ala)
c.509A>C (p.Glu170Ala)
c.62A>C (p.Glu21Ala)
c.3914A>C (p.Glu1305Ala)
n.5437A>C
5g.13841865C>ACA359212370DNAH5c.5311G>T (p.Glu1771Ter)
c.5266G>T (p.Glu1756Ter)
n.5518G>T
c.5419G>T (p.Glu1807Ter)
c.4324G>T (p.Glu1442Ter)
c.508G>T (p.Glu170Ter)
c.61G>T (p.Glu21Ter)
c.3913G>T (p.Glu1305Ter)
n.5436G>T
5g.13841865C>GCA359212373DNAH5c.5311G>C (p.Glu1771Gln)
c.5266G>C (p.Glu1756Gln)
n.5518G>C
c.5419G>C (p.Glu1807Gln)
c.4324G>C (p.Glu1442Gln)
c.508G>C (p.Glu170Gln)
c.61G>C (p.Glu21Gln)
c.3913G>C (p.Glu1305Gln)
n.5436G>C
5g.13841865C>TCA359212371DNAH5c.5311G>A (p.Glu1771Lys)
c.5266G>A (p.Glu1756Lys)
n.5518G>A
c.5419G>A (p.Glu1807Lys)
c.4324G>A (p.Glu1442Lys)
c.508G>A (p.Glu170Lys)
c.61G>A (p.Glu21Lys)
c.3913G>A (p.Glu1305Lys)
n.5436G>A
5g.13841866A>CCA443256888DNAH5c.5310T>G (p.Gly1770=)
c.5265T>G (p.Gly1755=)
n.5517T>G
c.5418T>G (p.Gly1806=)
c.4323T>G (p.Gly1441=)
c.507T>G (p.Gly169=)
c.60T>G (p.Gly20=)
c.3912T>G (p.Gly1304=)
n.5435T>G
 dbSNP gnomAD v4
5g.13841866A>GCA443256884DNAH5c.5310T>C (p.Gly1770=)
c.5265T>C (p.Gly1755=)
n.5517T>C
c.5418T>C (p.Gly1806=)
c.4323T>C (p.Gly1441=)
c.507T>C (p.Gly169=)
c.60T>C (p.Gly20=)
c.3912T>C (p.Gly1304=)
n.5435T>C
 ClinVar dbSNP
5g.13841866A>TCA443256886DNAH5c.5310T>A (p.Gly1770=)
c.5265T>A (p.Gly1755=)
n.5517T>A
c.5418T>A (p.Gly1806=)
c.4323T>A (p.Gly1441=)
c.507T>A (p.Gly169=)
c.60T>A (p.Gly20=)
c.3912T>A (p.Gly1304=)
n.5435T>A
5g.13841867C>ACA359212374DNAH5c.5309G>T (p.Gly1770Val)
c.5264G>T (p.Gly1755Val)
n.5516G>T
c.5417G>T (p.Gly1806Val)
c.4322G>T (p.Gly1441Val)
c.506G>T (p.Gly169Val)
c.59G>T (p.Gly20Val)
c.3911G>T (p.Gly1304Val)
n.5434G>T
5g.13841867C>GCA359212378DNAH5c.5309G>C (p.Gly1770Ala)
c.5264G>C (p.Gly1755Ala)
n.5516G>C
c.5417G>C (p.Gly1806Ala)
c.4322G>C (p.Gly1441Ala)
c.506G>C (p.Gly169Ala)
c.59G>C (p.Gly20Ala)
c.3911G>C (p.Gly1304Ala)
n.5434G>C
5g.13841867C>TCA359212376DNAH5c.5309G>A (p.Gly1770Asp)
c.5264G>A (p.Gly1755Asp)
n.5516G>A
c.5417G>A (p.Gly1806Asp)
c.4322G>A (p.Gly1441Asp)
c.506G>A (p.Gly169Asp)
c.59G>A (p.Gly20Asp)
c.3911G>A (p.Gly1304Asp)
n.5434G>A
5g.13841868C>ACA359212379DNAH5c.5308G>T (p.Gly1770Cys)
c.5263G>T (p.Gly1755Cys)
n.5515G>T
c.5416G>T (p.Gly1806Cys)
c.4321G>T (p.Gly1441Cys)
c.505G>T (p.Gly169Cys)
c.58G>T (p.Gly20Cys)
c.3910G>T (p.Gly1304Cys)
n.5433G>T
 dbSNP gnomAD v2
5g.13841868C=CA1528458434DNAH5c.5308G= (p.Gly1770=)
c.5263G= (p.Gly1755=)
n.5515G=
c.5416G= (p.Gly1806=)
c.4321G= (p.Gly1441=)
c.505G= (p.Gly169=)
c.58G= (p.Gly20=)
c.3910G= (p.Gly1304=)
n.5433G=
5g.13841868C>GCA359212383DNAH5c.5308G>C (p.Gly1770Arg)
c.5263G>C (p.Gly1755Arg)
n.5515G>C
c.5416G>C (p.Gly1806Arg)
c.4321G>C (p.Gly1441Arg)
c.505G>C (p.Gly169Arg)
c.58G>C (p.Gly20Arg)
c.3910G>C (p.Gly1304Arg)
n.5433G>C
5g.13841868C>TCA359212381DNAH5c.5308G>A (p.Gly1770Ser)
c.5263G>A (p.Gly1755Ser)
n.5515G>A
c.5416G>A (p.Gly1806Ser)
c.4321G>A (p.Gly1441Ser)
c.505G>A (p.Gly169Ser)
c.58G>A (p.Gly20Ser)
c.3910G>A (p.Gly1304Ser)
n.5433G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13841869C>ACA359212385DNAH5c.5307G>T (p.Glu1769Asp)
c.5262G>T (p.Glu1754Asp)
n.5514G>T
c.5415G>T (p.Glu1805Asp)
c.4320G>T (p.Glu1440Asp)
c.504G>T (p.Glu168Asp)
c.57G>T (p.Glu19Asp)
c.3909G>T (p.Glu1303Asp)
n.5432G>T
5g.13841869C>GCA359212386DNAH5c.5307G>C (p.Glu1769Asp)
c.5262G>C (p.Glu1754Asp)
n.5514G>C
c.5415G>C (p.Glu1805Asp)
c.4320G>C (p.Glu1440Asp)
c.504G>C (p.Glu168Asp)
c.57G>C (p.Glu19Asp)
c.3909G>C (p.Glu1303Asp)
n.5432G>C
5g.13841869C>TCA443256898DNAH5c.5307G>A (p.Glu1769=)
c.5262G>A (p.Glu1754=)
n.5514G>A
c.5415G>A (p.Glu1805=)
c.4320G>A (p.Glu1440=)
c.504G>A (p.Glu168=)
c.57G>A (p.Glu19=)
c.3909G>A (p.Glu1303=)
n.5432G>A
 gnomAD v4
5g.13841870T>ACA359212387DNAH5c.5306A>T (p.Glu1769Val)
c.5261A>T (p.Glu1754Val)
n.5513A>T
c.5414A>T (p.Glu1805Val)
c.4319A>T (p.Glu1440Val)
c.503A>T (p.Glu168Val)
c.56A>T (p.Glu19Val)
c.3908A>T (p.Glu1303Val)
n.5431A>T
5g.13841870T>CCA359212389DNAH5c.5306A>G (p.Glu1769Gly)
c.5261A>G (p.Glu1754Gly)
n.5513A>G
c.5414A>G (p.Glu1805Gly)
c.4319A>G (p.Glu1440Gly)
c.503A>G (p.Glu168Gly)
c.56A>G (p.Glu19Gly)
c.3908A>G (p.Glu1303Gly)
n.5431A>G
5g.13841870T>GCA359212390DNAH5c.5306A>C (p.Glu1769Ala)
c.5261A>C (p.Glu1754Ala)
n.5513A>C
c.5414A>C (p.Glu1805Ala)
c.4319A>C (p.Glu1440Ala)
c.503A>C (p.Glu168Ala)
c.56A>C (p.Glu19Ala)
c.3908A>C (p.Glu1303Ala)
n.5431A>C
5g.13841871C>ACA359212392DNAH5c.5305G>T (p.Glu1769Ter)
c.5260G>T (p.Glu1754Ter)
n.5512G>T
c.5413G>T (p.Glu1805Ter)
c.4318G>T (p.Glu1440Ter)
c.502G>T (p.Glu168Ter)
c.55G>T (p.Glu19Ter)
c.3907G>T (p.Glu1303Ter)
n.5430G>T
5g.13841871C>GCA359212393DNAH5c.5305G>C (p.Glu1769Gln)
c.5260G>C (p.Glu1754Gln)
n.5512G>C
c.5413G>C (p.Glu1805Gln)
c.4318G>C (p.Glu1440Gln)
c.502G>C (p.Glu168Gln)
c.55G>C (p.Glu19Gln)
c.3907G>C (p.Glu1303Gln)
n.5430G>C
5g.13841871C>TCA359212394DNAH5c.5305G>A (p.Glu1769Lys)
c.5260G>A (p.Glu1754Lys)
n.5512G>A
c.5413G>A (p.Glu1805Lys)
c.4318G>A (p.Glu1440Lys)
c.502G>A (p.Glu168Lys)
c.55G>A (p.Glu19Lys)
c.3907G>A (p.Glu1303Lys)
n.5430G>A
5g.13841872T>ACA359212396DNAH5c.5304A>T (p.Gln1768His)
c.5259A>T (p.Gln1753His)
n.5511A>T
c.5412A>T (p.Gln1804His)
c.4317A>T (p.Gln1439His)
c.501A>T (p.Gln167His)
c.54A>T (p.Gln18His)
c.3906A>T (p.Gln1302His)
n.5429A>T
5g.13841872T>CCA443256904DNAH5c.5304A>G (p.Gln1768=)
c.5259A>G (p.Gln1753=)
n.5511A>G
c.5412A>G (p.Gln1804=)
c.4317A>G (p.Gln1439=)
c.501A>G (p.Gln167=)
c.54A>G (p.Gln18=)
c.3906A>G (p.Gln1302=)
n.5429A>G
 gnomAD v4
5g.13841872T>GCA359212398DNAH5c.5304A>C (p.Gln1768His)
c.5259A>C (p.Gln1753His)
n.5511A>C
c.5412A>C (p.Gln1804His)
c.4317A>C (p.Gln1439His)
c.501A>C (p.Gln167His)
c.54A>C (p.Gln18His)
c.3906A>C (p.Gln1302His)
n.5429A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841872T=CA1528458436DNAH5c.5304A= (p.Gln1768=)
c.5259A= (p.Gln1753=)
n.5511A=
c.5412A= (p.Gln1804=)
c.4317A= (p.Gln1439=)
c.501A= (p.Gln167=)
c.54A= (p.Gln18=)
c.3906A= (p.Gln1302=)
n.5429A=
5g.13841872_13841873delCA2673274331DNAH5c.5303_5304del (p.Gln1768ArgfsTer3)
c.5258_5259del (p.Gln1753ArgfsTer3)
n.5510_5511del
c.5411_5412del (p.Gln1804ArgfsTer3)
c.4316_4317del (p.Gln1439ArgfsTer3)
c.500_501del (p.Gln167ArgfsTer3)
c.53_54del (p.Gln18ArgfsTer3)
c.3905_3906del (p.Gln1302ArgfsTer3)
n.5428_5429del
 gnomAD v4
5g.13841873T>ACA359212404DNAH5c.5303A>T (p.Gln1768Leu)
c.5258A>T (p.Gln1753Leu)
n.5510A>T
c.5411A>T (p.Gln1804Leu)
c.4316A>T (p.Gln1439Leu)
c.500A>T (p.Gln167Leu)
c.53A>T (p.Gln18Leu)
c.3905A>T (p.Gln1302Leu)
n.5428A>T
5g.13841873T>CCA359212402DNAH5c.5303A>G (p.Gln1768Arg)
c.5258A>G (p.Gln1753Arg)
n.5510A>G
c.5411A>G (p.Gln1804Arg)
c.4316A>G (p.Gln1439Arg)
c.500A>G (p.Gln167Arg)
c.53A>G (p.Gln18Arg)
c.3905A>G (p.Gln1302Arg)
n.5428A>G
 gnomAD v4 COSMIC
5g.13841873T>GCA3203701DNAH5c.5303A>C (p.Gln1768Pro)
c.5258A>C (p.Gln1753Pro)
n.5510A>C
c.5411A>C (p.Gln1804Pro)
c.4316A>C (p.Gln1439Pro)
c.500A>C (p.Gln167Pro)
c.53A>C (p.Gln18Pro)
c.3905A>C (p.Gln1302Pro)
n.5428A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841873T=CA1528458438DNAH5c.5303A= (p.Gln1768=)
c.5258A= (p.Gln1753=)
n.5510A=
c.5411A= (p.Gln1804=)
c.4316A= (p.Gln1439=)
c.500A= (p.Gln167=)
c.53A= (p.Gln18=)
c.3905A= (p.Gln1302=)
n.5428A=
5g.13841874G>ACA359212406DNAH5c.5302C>T (p.Gln1768Ter)
c.5257C>T (p.Gln1753Ter)
n.5509C>T
c.5410C>T (p.Gln1804Ter)
c.4315C>T (p.Gln1439Ter)
c.499C>T (p.Gln167Ter)
c.52C>T (p.Gln18Ter)
c.3904C>T (p.Gln1302Ter)
n.5427C>T
 gnomAD v4
5g.13841874G>CCA359212408DNAH5c.5302C>G (p.Gln1768Glu)
c.5257C>G (p.Gln1753Glu)
n.5509C>G
c.5410C>G (p.Gln1804Glu)
c.4315C>G (p.Gln1439Glu)
c.499C>G (p.Gln167Glu)
c.52C>G (p.Gln18Glu)
c.3904C>G (p.Gln1302Glu)
n.5427C>G
5g.13841874G>TCA359212410DNAH5c.5302C>A (p.Gln1768Lys)
c.5257C>A (p.Gln1753Lys)
n.5509C>A
c.5410C>A (p.Gln1804Lys)
c.4315C>A (p.Gln1439Lys)
c.499C>A (p.Gln167Lys)
c.52C>A (p.Gln18Lys)
c.3904C>A (p.Gln1302Lys)
n.5427C>A
 gnomAD v4
5g.13841875A>CCA443256912DNAH5c.5301T>G (p.Ser1767=)
c.5256T>G (p.Ser1752=)
n.5508T>G
c.5409T>G (p.Ser1803=)
c.4314T>G (p.Ser1438=)
c.498T>G (p.Ser166=)
c.51T>G (p.Ser17=)
c.3903T>G (p.Ser1301=)
n.5426T>G
5g.13841875A>GCA443256913DNAH5c.5301T>C (p.Ser1767=)
c.5256T>C (p.Ser1752=)
n.5508T>C
c.5409T>C (p.Ser1803=)
c.4314T>C (p.Ser1438=)
c.498T>C (p.Ser166=)
c.51T>C (p.Ser17=)
c.3903T>C (p.Ser1301=)
n.5426T>C
5g.13841875A>TCA443256914DNAH5c.5301T>A (p.Ser1767=)
c.5256T>A (p.Ser1752=)
n.5508T>A
c.5409T>A (p.Ser1803=)
c.4314T>A (p.Ser1438=)
c.498T>A (p.Ser166=)
c.51T>A (p.Ser17=)
c.3903T>A (p.Ser1301=)
n.5426T>A
 COSMIC
5g.13841876G>ACA359212411DNAH5c.5300C>T (p.Ser1767Phe)
c.5255C>T (p.Ser1752Phe)
n.5507C>T
c.5408C>T (p.Ser1803Phe)
c.4313C>T (p.Ser1438Phe)
c.497C>T (p.Ser166Phe)
c.50C>T (p.Ser17Phe)
c.3902C>T (p.Ser1301Phe)
n.5425C>T
 gnomAD v4
5g.13841876G>CCA359212412DNAH5c.5300C>G (p.Ser1767Cys)
c.5255C>G (p.Ser1752Cys)
n.5507C>G
c.5408C>G (p.Ser1803Cys)
c.4313C>G (p.Ser1438Cys)
c.497C>G (p.Ser166Cys)
c.50C>G (p.Ser17Cys)
c.3902C>G (p.Ser1301Cys)
n.5425C>G
5g.13841876G>TCA359212414DNAH5c.5300C>A (p.Ser1767Tyr)
c.5255C>A (p.Ser1752Tyr)
n.5507C>A
c.5408C>A (p.Ser1803Tyr)
c.4313C>A (p.Ser1438Tyr)
c.497C>A (p.Ser166Tyr)
c.50C>A (p.Ser17Tyr)
c.3902C>A (p.Ser1301Tyr)
n.5425C>A
 gnomAD v4
5g.13841877A>CCA359212416DNAH5c.5299T>G (p.Ser1767Ala)
c.5254T>G (p.Ser1752Ala)
n.5506T>G
c.5407T>G (p.Ser1803Ala)
c.4312T>G (p.Ser1438Ala)
c.496T>G (p.Ser166Ala)
c.49T>G (p.Ser17Ala)
c.3901T>G (p.Ser1301Ala)
n.5424T>G
5g.13841877A>GCA359212418DNAH5c.5299T>C (p.Ser1767Pro)
c.5254T>C (p.Ser1752Pro)
n.5506T>C
c.5407T>C (p.Ser1803Pro)
c.4312T>C (p.Ser1438Pro)
c.496T>C (p.Ser166Pro)
c.49T>C (p.Ser17Pro)
c.3901T>C (p.Ser1301Pro)
n.5424T>C
5g.13841877A>TCA359212419DNAH5c.5299T>A (p.Ser1767Thr)
c.5254T>A (p.Ser1752Thr)
n.5506T>A
c.5407T>A (p.Ser1803Thr)
c.4312T>A (p.Ser1438Thr)
c.496T>A (p.Ser166Thr)
c.49T>A (p.Ser17Thr)
c.3901T>A (p.Ser1301Thr)
n.5424T>A
5g.13841878G>ACA443256928DNAH5c.5298C>T (p.Ser1766=)
c.5253C>T (p.Ser1751=)
n.5505C>T
c.5406C>T (p.Ser1802=)
c.4311C>T (p.Ser1437=)
c.495C>T (p.Ser165=)
c.48C>T (p.Ser16=)
c.3900C>T (p.Ser1300=)
n.5423C>T
 gnomAD v4
5g.13841878G>CCA443256929DNAH5c.5298C>G (p.Ser1766=)
c.5253C>G (p.Ser1751=)
n.5505C>G
c.5406C>G (p.Ser1802=)
c.4311C>G (p.Ser1437=)
c.495C>G (p.Ser165=)
c.48C>G (p.Ser16=)
c.3900C>G (p.Ser1300=)
n.5423C>G
5g.13841878G>TCA443256932DNAH5c.5298C>A (p.Ser1766=)
c.5253C>A (p.Ser1751=)
n.5505C>A
c.5406C>A (p.Ser1802=)
c.4311C>A (p.Ser1437=)
c.495C>A (p.Ser165=)
c.48C>A (p.Ser16=)
c.3900C>A (p.Ser1300=)
n.5423C>A
5g.13841879G>ACA359212421DNAH5c.5297C>T (p.Ser1766Phe)
c.5252C>T (p.Ser1751Phe)
n.5504C>T
c.5405C>T (p.Ser1802Phe)
c.4310C>T (p.Ser1437Phe)
c.494C>T (p.Ser165Phe)
c.47C>T (p.Ser16Phe)
c.3899C>T (p.Ser1300Phe)
n.5422C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841879G>CCA359212423DNAH5c.5297C>G (p.Ser1766Cys)
c.5252C>G (p.Ser1751Cys)
n.5504C>G
c.5405C>G (p.Ser1802Cys)
c.4310C>G (p.Ser1437Cys)
c.494C>G (p.Ser165Cys)
c.47C>G (p.Ser16Cys)
c.3899C>G (p.Ser1300Cys)
n.5422C>G
5g.13841879G=CA1528458440DNAH5c.5297C= (p.Ser1766=)
c.5252C= (p.Ser1751=)
n.5504C=
c.5405C= (p.Ser1802=)
c.4310C= (p.Ser1437=)
c.494C= (p.Ser165=)
c.47C= (p.Ser16=)
c.3899C= (p.Ser1300=)
n.5422C=
5g.13841879G>TCA359212425DNAH5c.5297C>A (p.Ser1766Tyr)
c.5252C>A (p.Ser1751Tyr)
n.5504C>A
c.5405C>A (p.Ser1802Tyr)
c.4310C>A (p.Ser1437Tyr)
c.494C>A (p.Ser165Tyr)
c.47C>A (p.Ser16Tyr)
c.3899C>A (p.Ser1300Tyr)
n.5422C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13841880A>CCA359212430DNAH5c.5296T>G (p.Ser1766Ala)
c.5251T>G (p.Ser1751Ala)
n.5503T>G
c.5404T>G (p.Ser1802Ala)
c.4309T>G (p.Ser1437Ala)
c.493T>G (p.Ser165Ala)
c.46T>G (p.Ser16Ala)
c.3898T>G (p.Ser1300Ala)
n.5421T>G
 gnomAD v4
5g.13841880A>GCA359212428DNAH5c.5296T>C (p.Ser1766Pro)
c.5251T>C (p.Ser1751Pro)
n.5503T>C
c.5404T>C (p.Ser1802Pro)
c.4309T>C (p.Ser1437Pro)
c.493T>C (p.Ser165Pro)
c.46T>C (p.Ser16Pro)
c.3898T>C (p.Ser1300Pro)
n.5421T>C
 gnomAD v4
5g.13841880A>TCA359212427DNAH5c.5296T>A (p.Ser1766Thr)
c.5251T>A (p.Ser1751Thr)
n.5503T>A
c.5404T>A (p.Ser1802Thr)
c.4309T>A (p.Ser1437Thr)
c.493T>A (p.Ser165Thr)
c.46T>A (p.Ser16Thr)
c.3898T>A (p.Ser1300Thr)
n.5421T>A
5g.13841881A>CCA359212431DNAH5c.5295T>G (p.Ile1765Met)
c.5250T>G (p.Ile1750Met)
n.5502T>G
c.5403T>G (p.Ile1801Met)
c.4308T>G (p.Ile1436Met)
c.492T>G (p.Ile164Met)
c.45T>G (p.Ile15Met)
c.3897T>G (p.Ile1299Met)
n.5420T>G
5g.13841881A>GCA443256938DNAH5c.5295T>C (p.Ile1765=)
c.5250T>C (p.Ile1750=)
n.5502T>C
c.5403T>C (p.Ile1801=)
c.4308T>C (p.Ile1436=)
c.492T>C (p.Ile164=)
c.45T>C (p.Ile15=)
c.3897T>C (p.Ile1299=)
n.5420T>C
5g.13841881A>TCA443256939DNAH5c.5295T>A (p.Ile1765=)
c.5250T>A (p.Ile1750=)
n.5502T>A
c.5403T>A (p.Ile1801=)
c.4308T>A (p.Ile1436=)
c.492T>A (p.Ile164=)
c.45T>A (p.Ile15=)
c.3897T>A (p.Ile1299=)
n.5420T>A
5g.13841882A=CA1528458442DNAH5c.5294T= (p.Ile1765=)
c.5249T= (p.Ile1750=)
n.5501T=
c.5402T= (p.Ile1801=)
c.4307T= (p.Ile1436=)
c.491T= (p.Ile164=)
c.44T= (p.Ile15=)
c.3896T= (p.Ile1299=)
n.5419T=
5g.13841882A>CCA359212432DNAH5c.5294T>G (p.Ile1765Ser)
c.5249T>G (p.Ile1750Ser)
n.5501T>G
c.5402T>G (p.Ile1801Ser)
c.4307T>G (p.Ile1436Ser)
c.491T>G (p.Ile164Ser)
c.44T>G (p.Ile15Ser)
c.3896T>G (p.Ile1299Ser)
n.5419T>G
5g.13841882A>GCA3203702DNAH5c.5294T>C (p.Ile1765Thr)
c.5249T>C (p.Ile1750Thr)
n.5501T>C
c.5402T>C (p.Ile1801Thr)
c.4307T>C (p.Ile1436Thr)
c.491T>C (p.Ile164Thr)
c.44T>C (p.Ile15Thr)
c.3896T>C (p.Ile1299Thr)
n.5419T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841882A>TCA359212435DNAH5c.5294T>A (p.Ile1765Asn)
c.5249T>A (p.Ile1750Asn)
n.5501T>A
c.5402T>A (p.Ile1801Asn)
c.4307T>A (p.Ile1436Asn)
c.491T>A (p.Ile164Asn)
c.44T>A (p.Ile15Asn)
c.3896T>A (p.Ile1299Asn)
n.5419T>A
5g.13841883T>ACA359212436DNAH5c.5293A>T (p.Ile1765Phe)
c.5248A>T (p.Ile1750Phe)
n.5500A>T
c.5401A>T (p.Ile1801Phe)
c.4306A>T (p.Ile1436Phe)
c.490A>T (p.Ile164Phe)
c.43A>T (p.Ile15Phe)
c.3895A>T (p.Ile1299Phe)
n.5418A>T
5g.13841883T>CCA3203703DNAH5c.5293A>G (p.Ile1765Val)
c.5248A>G (p.Ile1750Val)
n.5500A>G
c.5401A>G (p.Ile1801Val)
c.4306A>G (p.Ile1436Val)
c.490A>G (p.Ile164Val)
c.43A>G (p.Ile15Val)
c.3895A>G (p.Ile1299Val)
n.5418A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841883T>GCA359212439DNAH5c.5293A>C (p.Ile1765Leu)
c.5248A>C (p.Ile1750Leu)
n.5500A>C
c.5401A>C (p.Ile1801Leu)
c.4306A>C (p.Ile1436Leu)
c.490A>C (p.Ile164Leu)
c.43A>C (p.Ile15Leu)
c.3895A>C (p.Ile1299Leu)
n.5418A>C
5g.13841883T=CA1528458443DNAH5c.5293A= (p.Ile1765=)
c.5248A= (p.Ile1750=)
n.5500A=
c.5401A= (p.Ile1801=)
c.4306A= (p.Ile1436=)
c.490A= (p.Ile164=)
c.43A= (p.Ile15=)
c.3895A= (p.Ile1299=)
n.5418A=
5g.13841883_13841885delCA2673274332DNAH5c.5291_5293del (p.Ser1764_Ile1765delinsPhe)
c.5246_5248del (p.Ser1749_Ile1750delinsPhe)
n.5498_5500del
c.5399_5401del (p.Ser1800_Ile1801delinsPhe)
c.4304_4306del (p.Ser1435_Ile1436delinsPhe)
c.488_490del (p.Ser163_Ile164delinsPhe)
c.41_43del (p.Ser14_Ile15delinsPhe)
c.3893_3895del (p.Ser1298_Ile1299delinsPhe)
n.5416_5418del
 gnomAD v4
5g.13841883_13841889delCA2673274334DNAH5c.5287_5293del (p.Leu1763PhefsTer?)
c.5242_5248del (p.Leu1748PhefsTer?)
n.5494_5500del
c.5395_5401del (p.Leu1799PhefsTer?)
c.4300_4306del (p.Leu1434PhefsTer?)
c.484_490del (p.Leu162PhefsTer?)
c.37_43del (p.Leu13PhefsTer?)
c.3889_3895del (p.Leu1297PhefsTer?)
n.5412_5418del
 gnomAD v4
5g.13841883_13841918delCA2673274333DNAH5c.5272-14_5293del
c.5227-14_5248del
n.5479-14_5500del
c.5380-14_5401del
c.4285-14_4306del
c.469-14_490del
c.22-14_43del
c.3874-14_3895del
n.5397-14_5418del
 gnomAD v4
5g.13841884T>ACA443256951DNAH5c.5292A>T (p.Ser1764=)
c.5247A>T (p.Ser1749=)
n.5499A>T
c.5400A>T (p.Ser1800=)
c.4305A>T (p.Ser1435=)
c.489A>T (p.Ser163=)
c.42A>T (p.Ser14=)
c.3894A>T (p.Ser1298=)
n.5417A>T
5g.13841884T>CCA443256953DNAH5c.5292A>G (p.Ser1764=)
c.5247A>G (p.Ser1749=)
n.5499A>G
c.5400A>G (p.Ser1800=)
c.4305A>G (p.Ser1435=)
c.489A>G (p.Ser163=)
c.42A>G (p.Ser14=)
c.3894A>G (p.Ser1298=)
n.5417A>G
5g.13841884T>GCA443256954DNAH5c.5292A>C (p.Ser1764=)
c.5247A>C (p.Ser1749=)
n.5499A>C
c.5400A>C (p.Ser1800=)
c.4305A>C (p.Ser1435=)
c.489A>C (p.Ser163=)
c.42A>C (p.Ser14=)
c.3894A>C (p.Ser1298=)
n.5417A>C
5g.13841884T=CA1528458445DNAH5c.5292A= (p.Ser1764=)
c.5247A= (p.Ser1749=)
n.5499A=
c.5400A= (p.Ser1800=)
c.4305A= (p.Ser1435=)
c.489A= (p.Ser163=)
c.42A= (p.Ser14=)
c.3894A= (p.Ser1298=)
n.5417A=
5g.13841885G>ACA359212441DNAH5c.5291C>T (p.Ser1764Leu)
c.5246C>T (p.Ser1749Leu)
n.5498C>T
c.5399C>T (p.Ser1800Leu)
c.4304C>T (p.Ser1435Leu)
c.488C>T (p.Ser163Leu)
c.41C>T (p.Ser14Leu)
c.3893C>T (p.Ser1298Leu)
n.5416C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841885G>CCA359212443DNAH5c.5291C>G (p.Ser1764Ter)
c.5246C>G (p.Ser1749Ter)
n.5498C>G
c.5399C>G (p.Ser1800Ter)
c.4304C>G (p.Ser1435Ter)
c.488C>G (p.Ser163Ter)
c.41C>G (p.Ser14Ter)
c.3893C>G (p.Ser1298Ter)
n.5416C>G
5g.13841885G=CA1528458447DNAH5c.5291C= (p.Ser1764=)
c.5246C= (p.Ser1749=)
n.5498C=
c.5399C= (p.Ser1800=)
c.4304C= (p.Ser1435=)
c.488C= (p.Ser163=)
c.41C= (p.Ser14=)
c.3893C= (p.Ser1298=)
n.5416C=
5g.13841885G>TCA359212445DNAH5c.5291C>A (p.Ser1764Ter)
c.5246C>A (p.Ser1749Ter)
n.5498C>A
c.5399C>A (p.Ser1800Ter)
c.4304C>A (p.Ser1435Ter)
c.488C>A (p.Ser163Ter)
c.41C>A (p.Ser14Ter)
c.3893C>A (p.Ser1298Ter)
n.5416C>A
 gnomAD v4
5g.13841886_13841887insGGACA3203704DNAH5c.5291_5292insCTC (p.Ser1764_Ile1765insSer)
c.5246_5247insCTC (p.Ser1749_Ile1750insSer)
n.5498_5499insCTC
c.5399_5400insCTC (p.Ser1800_Ile1801insSer)
c.4304_4305insCTC (p.Ser1435_Ile1436insSer)
c.488_489insCTC (p.Ser163_Ile164insSer)
c.41_42insCTC (p.Ser14_Ile15insSer)
c.3893_3894insCTC (p.Ser1298_Ile1299insSer)
n.5416_5417insCTC
 dbSNP ExAC
5g.13841886A=CA1528458449DNAH5c.5290T= (p.Ser1764=)
c.5245T= (p.Ser1749=)
n.5497T=
c.5398T= (p.Ser1800=)
c.4303T= (p.Ser1435=)
c.487T= (p.Ser163=)
c.40T= (p.Ser14=)
c.3892T= (p.Ser1298=)
n.5415T=
5g.13841886A>CCA359212447DNAH5c.5290T>G (p.Ser1764Ala)
c.5245T>G (p.Ser1749Ala)
n.5497T>G
c.5398T>G (p.Ser1800Ala)
c.4303T>G (p.Ser1435Ala)
c.487T>G (p.Ser163Ala)
c.40T>G (p.Ser14Ala)
c.3892T>G (p.Ser1298Ala)
n.5415T>G
5g.13841886A>GCA3203705DNAH5c.5290T>C (p.Ser1764Pro)
c.5245T>C (p.Ser1749Pro)
n.5497T>C
c.5398T>C (p.Ser1800Pro)
c.4303T>C (p.Ser1435Pro)
c.487T>C (p.Ser163Pro)
c.40T>C (p.Ser14Pro)
c.3892T>C (p.Ser1298Pro)
n.5415T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841886A>TCA359212450DNAH5c.5290T>A (p.Ser1764Thr)
c.5245T>A (p.Ser1749Thr)
n.5497T>A
c.5398T>A (p.Ser1800Thr)
c.4303T>A (p.Ser1435Thr)
c.487T>A (p.Ser163Thr)
c.40T>A (p.Ser14Thr)
c.3892T>A (p.Ser1298Thr)
n.5415T>A
5g.13841887C>ACA443256966DNAH5c.5289G>T (p.Leu1763=)
c.5244G>T (p.Leu1748=)
n.5496G>T
c.5397G>T (p.Leu1799=)
c.4302G>T (p.Leu1434=)
c.486G>T (p.Leu162=)
c.39G>T (p.Leu13=)
c.3891G>T (p.Leu1297=)
n.5414G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841887C=CA1528458450DNAH5c.5289G= (p.Leu1763=)
c.5244G= (p.Leu1748=)
n.5496G=
c.5397G= (p.Leu1799=)
c.4302G= (p.Leu1434=)
c.486G= (p.Leu162=)
c.39G= (p.Leu13=)
c.3891G= (p.Leu1297=)
n.5414G=
5g.13841887C>GCA443256968DNAH5c.5289G>C (p.Leu1763=)
c.5244G>C (p.Leu1748=)
n.5496G>C
c.5397G>C (p.Leu1799=)
c.4302G>C (p.Leu1434=)
c.486G>C (p.Leu162=)
c.39G>C (p.Leu13=)
c.3891G>C (p.Leu1297=)
n.5414G>C
 gnomAD v4
5g.13841887C>TCA443256964DNAH5c.5289G>A (p.Leu1763=)
c.5244G>A (p.Leu1748=)
n.5496G>A
c.5397G>A (p.Leu1799=)
c.4302G>A (p.Leu1434=)
c.486G>A (p.Leu162=)
c.39G>A (p.Leu13=)
c.3891G>A (p.Leu1297=)
n.5414G>A
 gnomAD v4
5g.13841887_13841918delCA2673274335DNAH5c.5272-14_5289del
c.5227-14_5244del
n.5479-14_5496del
c.5380-14_5397del
c.4285-14_4302del
c.469-14_486del
c.22-14_39del
c.3874-14_3891del
n.5397-14_5414del
 gnomAD v4
5g.13841887_13841888insTGAGATTCTTCCAAAAGCA3203706DNAH5c.5288_5289insCTTTTGGAAGAATCTCA (p.Ser1764PhefsTer?)
c.5243_5244insCTTTTGGAAGAATCTCA (p.Ser1749PhefsTer?)
n.5495_5496insCTTTTGGAAGAATCTCA
c.5396_5397insCTTTTGGAAGAATCTCA (p.Ser1800PhefsTer?)
c.4301_4302insCTTTTGGAAGAATCTCA (p.Ser1435PhefsTer?)
c.485_486insCTTTTGGAAGAATCTCA (p.Ser163PhefsTer?)
c.38_39insCTTTTGGAAGAATCTCA (p.Ser14PhefsTer?)
c.3890_3891insCTTTTGGAAGAATCTCA (p.Ser1298PhefsTer?)
n.5413_5414insCTTTTGGAAGAATCTCA
 dbSNP ExAC
5g.13841888A=CA1528458453DNAH5c.5288T= (p.Leu1763=)
c.5243T= (p.Leu1748=)
n.5495T=
c.5396T= (p.Leu1799=)
c.4301T= (p.Leu1434=)
c.485T= (p.Leu162=)
c.38T= (p.Leu13=)
c.3890T= (p.Leu1297=)
n.5413T=
5g.13841888A>CCA359212452DNAH5c.5288T>G (p.Leu1763Arg)
c.5243T>G (p.Leu1748Arg)
n.5495T>G
c.5396T>G (p.Leu1799Arg)
c.4301T>G (p.Leu1434Arg)
c.485T>G (p.Leu162Arg)
c.38T>G (p.Leu13Arg)
c.3890T>G (p.Leu1297Arg)
n.5413T>G
5g.13841888A>GCA359212456DNAH5c.5288T>C (p.Leu1763Pro)
c.5243T>C (p.Leu1748Pro)
n.5495T>C
c.5396T>C (p.Leu1799Pro)
c.4301T>C (p.Leu1434Pro)
c.485T>C (p.Leu162Pro)
c.38T>C (p.Leu13Pro)
c.3890T>C (p.Leu1297Pro)
n.5413T>C
5g.13841888A>TCA359212455DNAH5c.5288T>A (p.Leu1763Gln)
c.5243T>A (p.Leu1748Gln)
n.5495T>A
c.5396T>A (p.Leu1799Gln)
c.4301T>A (p.Leu1434Gln)
c.485T>A (p.Leu162Gln)
c.38T>A (p.Leu13Gln)
c.3890T>A (p.Leu1297Gln)
n.5413T>A
 dbSNP gnomAD v3 gnomAD v4
5g.13841889G>ACA443256983DNAH5c.5287C>T (p.Leu1763=)
c.5242C>T (p.Leu1748=)
n.5494C>T
c.5395C>T (p.Leu1799=)
c.4300C>T (p.Leu1434=)
c.484C>T (p.Leu162=)
c.37C>T (p.Leu13=)
c.3889C>T (p.Leu1297=)
n.5412C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841889G>CCA359212460DNAH5c.5287C>G (p.Leu1763Val)
c.5242C>G (p.Leu1748Val)
n.5494C>G
c.5395C>G (p.Leu1799Val)
c.4300C>G (p.Leu1434Val)
c.484C>G (p.Leu162Val)
c.37C>G (p.Leu13Val)
c.3889C>G (p.Leu1297Val)
n.5412C>G
5g.13841889G>TCA359212462DNAH5c.5287C>A (p.Leu1763Met)
c.5242C>A (p.Leu1748Met)
n.5494C>A
c.5395C>A (p.Leu1799Met)
c.4300C>A (p.Leu1434Met)
c.484C>A (p.Leu162Met)
c.37C>A (p.Leu13Met)
c.3889C>A (p.Leu1297Met)
n.5412C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13841889dupCA557871714DNAH5c.5287dup (p.Leu1763ProfsTer9)
c.5242dup (p.Leu1748ProfsTer9)
n.5494dup
c.5395dup (p.Leu1799ProfsTer9)
c.4300dup (p.Leu1434ProfsTer9)
c.484dup (p.Leu162ProfsTer9)
c.37dup (p.Leu13ProfsTer9)
c.3889dup (p.Leu1297ProfsTer9)
n.5412dup
 dbSNP gnomAD v2
5g.13841890A=CA1528458455DNAH5c.5286T= (p.Ile1762=)
c.5241T= (p.Ile1747=)
n.5493T=
c.5394T= (p.Ile1798=)
c.4299T= (p.Ile1433=)
c.483T= (p.Ile161=)
c.36T= (p.Ile12=)
c.3888T= (p.Ile1296=)
n.5411T=
5g.13841890A>CCA359212465DNAH5c.5286T>G (p.Ile1762Met)
c.5241T>G (p.Ile1747Met)
n.5493T>G
c.5394T>G (p.Ile1798Met)
c.4299T>G (p.Ile1433Met)
c.483T>G (p.Ile161Met)
c.36T>G (p.Ile12Met)
c.3888T>G (p.Ile1296Met)
n.5411T>G
5g.13841890A>GCA443256985DNAH5c.5286T>C (p.Ile1762=)
c.5241T>C (p.Ile1747=)
n.5493T>C
c.5394T>C (p.Ile1798=)
c.4299T>C (p.Ile1433=)
c.483T>C (p.Ile161=)
c.36T>C (p.Ile12=)
c.3888T>C (p.Ile1296=)
n.5411T>C
5g.13841890A>TCA443256986DNAH5c.5286T>A (p.Ile1762=)
c.5241T>A (p.Ile1747=)
n.5493T>A
c.5394T>A (p.Ile1798=)
c.4299T>A (p.Ile1433=)
c.483T>A (p.Ile161=)
c.36T>A (p.Ile12=)
c.3888T>A (p.Ile1296=)
n.5411T>A
5g.13841891A=CA1528458457DNAH5c.5285T= (p.Ile1762=)
c.5240T= (p.Ile1747=)
n.5492T=
c.5393T= (p.Ile1798=)
c.4298T= (p.Ile1433=)
c.482T= (p.Ile161=)
c.35T= (p.Ile12=)
c.3887T= (p.Ile1296=)
n.5410T=
5g.13841891A>CCA359212468DNAH5c.5285T>G (p.Ile1762Ser)
c.5240T>G (p.Ile1747Ser)
n.5492T>G
c.5393T>G (p.Ile1798Ser)
c.4298T>G (p.Ile1433Ser)
c.482T>G (p.Ile161Ser)
c.35T>G (p.Ile12Ser)
c.3887T>G (p.Ile1296Ser)
n.5410T>G
5g.13841891A>GCA359212471DNAH5c.5285T>C (p.Ile1762Thr)
c.5240T>C (p.Ile1747Thr)
n.5492T>C
c.5393T>C (p.Ile1798Thr)
c.4298T>C (p.Ile1433Thr)
c.482T>C (p.Ile161Thr)
c.35T>C (p.Ile12Thr)
c.3887T>C (p.Ile1296Thr)
n.5410T>C
5g.13841891A>TCA359212473DNAH5c.5285T>A (p.Ile1762Asn)
c.5240T>A (p.Ile1747Asn)
n.5492T>A
c.5393T>A (p.Ile1798Asn)
c.4298T>A (p.Ile1433Asn)
c.482T>A (p.Ile161Asn)
c.35T>A (p.Ile12Asn)
c.3887T>A (p.Ile1296Asn)
n.5410T>A
 gnomAD v4
5g.13841891_13841892insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCACA557871715DNAH5c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
c.5240_5241insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1747delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
n.5492_5493insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
c.4298_4299insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1433delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
c.482_483insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile161delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
c.35_36insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile12delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
c.3887_3888insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT (p.Ile1296delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyValLysPhePheLeuVal)
n.5410_5411insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
 dbSNP gnomAD v2
5g.13841892T>ACA359212479DNAH5c.5284A>T (p.Ile1762Phe)
c.5239A>T (p.Ile1747Phe)
n.5491A>T
c.5392A>T (p.Ile1798Phe)
c.4297A>T (p.Ile1433Phe)
c.481A>T (p.Ile161Phe)
c.34A>T (p.Ile12Phe)
c.3886A>T (p.Ile1296Phe)
n.5409A>T
5g.13841892T>CCA359212481DNAH5c.5284A>G (p.Ile1762Val)
c.5239A>G (p.Ile1747Val)
n.5491A>G
c.5392A>G (p.Ile1798Val)
c.4297A>G (p.Ile1433Val)
c.481A>G (p.Ile161Val)
c.34A>G (p.Ile12Val)
c.3886A>G (p.Ile1296Val)
n.5409A>G
5g.13841892T>GCA359212484DNAH5c.5284A>C (p.Ile1762Leu)
c.5239A>C (p.Ile1747Leu)
n.5491A>C
c.5392A>C (p.Ile1798Leu)
c.4297A>C (p.Ile1433Leu)
c.481A>C (p.Ile161Leu)
c.34A>C (p.Ile12Leu)
c.3886A>C (p.Ile1296Leu)
n.5409A>C
5g.13841893_13841894insAAGCCAAACTTCA3203707DNAH5c.5284_5285insGTTTGGCTTAA (p.Ile1762SerfsTer4)
c.5239_5240insGTTTGGCTTAA (p.Ile1747SerfsTer4)
n.5491_5492insGTTTGGCTTAA
c.5392_5393insGTTTGGCTTAA (p.Ile1798SerfsTer4)
c.4297_4298insGTTTGGCTTAA (p.Ile1433SerfsTer4)
c.481_482insGTTTGGCTTAA (p.Ile161SerfsTer4)
c.34_35insGTTTGGCTTAA (p.Ile12SerfsTer4)
c.3886_3887insGTTTGGCTTAA (p.Ile1296SerfsTer4)
n.5409_5410insGTTTGGCTTAA
 dbSNP ExAC
5g.13841892_13841898delCA2673274337DNAH5c.5278_5284del (p.Asp1760PhefsTer?)
c.5233_5239del (p.Asp1745PhefsTer?)
n.5485_5491del
c.5386_5392del (p.Asp1796PhefsTer?)
c.4291_4297del (p.Asp1431PhefsTer?)
c.475_481del (p.Asp159PhefsTer?)
c.28_34del (p.Asp10PhefsTer?)
c.3880_3886del (p.Asp1294PhefsTer?)
n.5403_5409del
 gnomAD v4
5g.13841892_13841918delCA2673274336DNAH5c.5272-14_5284del
c.5227-14_5239del
n.5479-14_5491del
c.5380-14_5392del
c.4285-14_4297del
c.469-14_481del
c.22-14_34del
c.3874-14_3886del
n.5397-14_5409del
 gnomAD v4
5g.13841893T>ACA443256998DNAH5c.5283A>T (p.Arg1761=)
c.5238A>T (p.Arg1746=)
n.5490A>T
c.5391A>T (p.Arg1797=)
c.4296A>T (p.Arg1432=)
c.480A>T (p.Arg160=)
c.33A>T (p.Arg11=)
c.3885A>T (p.Arg1295=)
n.5408A>T
 gnomAD v3 gnomAD v4
5g.13841893T>CCA443256996DNAH5c.5283A>G (p.Arg1761=)
c.5238A>G (p.Arg1746=)
n.5490A>G
c.5391A>G (p.Arg1797=)
c.4296A>G (p.Arg1432=)
c.480A>G (p.Arg160=)
c.33A>G (p.Arg11=)
c.3885A>G (p.Arg1295=)
n.5408A>G
5g.13841893T>GCA3203708DNAH5c.5283A>C (p.Arg1761=)
c.5238A>C (p.Arg1746=)
n.5490A>C
c.5391A>C (p.Arg1797=)
c.4296A>C (p.Arg1432=)
c.480A>C (p.Arg160=)
c.33A>C (p.Arg11=)
c.3885A>C (p.Arg1295=)
n.5408A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841893T=CA1528458460DNAH5c.5283A= (p.Arg1761=)
c.5238A= (p.Arg1746=)
n.5490A=
c.5391A= (p.Arg1797=)
c.4296A= (p.Arg1432=)
c.480A= (p.Arg160=)
c.33A= (p.Arg11=)
c.3885A= (p.Arg1295=)
n.5408A=
5g.13841894C>ACA359212491DNAH5c.5282G>T (p.Arg1761Leu)
c.5237G>T (p.Arg1746Leu)
n.5489G>T
c.5390G>T (p.Arg1797Leu)
c.4295G>T (p.Arg1432Leu)
c.479G>T (p.Arg160Leu)
c.32G>T (p.Arg11Leu)
c.3884G>T (p.Arg1295Leu)
n.5407G>T
 gnomAD v3 gnomAD v4
5g.13841894C=CA1528458461DNAH5c.5282G= (p.Arg1761=)
c.5237G= (p.Arg1746=)
n.5489G=
c.5390G= (p.Arg1797=)
c.4295G= (p.Arg1432=)
c.479G= (p.Arg160=)
c.32G= (p.Arg11=)
c.3884G= (p.Arg1295=)
n.5407G=
5g.13841894C>GCA359212494DNAH5c.5282G>C (p.Arg1761Pro)
c.5237G>C (p.Arg1746Pro)
n.5489G>C
c.5390G>C (p.Arg1797Pro)
c.4295G>C (p.Arg1432Pro)
c.479G>C (p.Arg160Pro)
c.32G>C (p.Arg11Pro)
c.3884G>C (p.Arg1295Pro)
n.5407G>C
5g.13841894C>TCA3203709DNAH5c.5282G>A (p.Arg1761Gln)
c.5237G>A (p.Arg1746Gln)
n.5489G>A
c.5390G>A (p.Arg1797Gln)
c.4295G>A (p.Arg1432Gln)
c.479G>A (p.Arg160Gln)
c.32G>A (p.Arg11Gln)
c.3884G>A (p.Arg1295Gln)
n.5407G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841895G>ACA348934DNAH5c.5281C>T (p.Arg1761Ter)
c.5236C>T (p.Arg1746Ter)
n.5488C>T
c.5389C>T (p.Arg1797Ter)
c.4294C>T (p.Arg1432Ter)
c.478C>T (p.Arg160Ter)
c.31C>T (p.Arg11Ter)
c.3883C>T (p.Arg1295Ter)
n.5406C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13841895G>CCA3203710DNAH5c.5281C>G (p.Arg1761Gly)
c.5236C>G (p.Arg1746Gly)
n.5488C>G
c.5389C>G (p.Arg1797Gly)
c.4294C>G (p.Arg1432Gly)
c.478C>G (p.Arg160Gly)
c.31C>G (p.Arg11Gly)
c.3883C>G (p.Arg1295Gly)
n.5406C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841895G=CA1528458465DNAH5c.5281C= (p.Arg1761=)
c.5236C= (p.Arg1746=)
n.5488C=
c.5389C= (p.Arg1797=)
c.4294C= (p.Arg1432=)
c.478C= (p.Arg160=)
c.31C= (p.Arg11=)
c.3883C= (p.Arg1295=)
n.5406C=
5g.13841895G>TCA443257007DNAH5c.5281C>A (p.Arg1761=)
c.5236C>A (p.Arg1746=)
n.5488C>A
c.5389C>A (p.Arg1797=)
c.4294C>A (p.Arg1432=)
c.478C>A (p.Arg160=)
c.31C>A (p.Arg11=)
c.3883C>A (p.Arg1295=)
n.5406C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841896A=CA1528458469DNAH5c.5280T= (p.Asp1760=)
c.5235T= (p.Asp1745=)
n.5487T=
c.5388T= (p.Asp1796=)
c.4293T= (p.Asp1431=)
c.477T= (p.Asp159=)
c.30T= (p.Asp10=)
c.3882T= (p.Asp1294=)
n.5405T=
5g.13841896A>CCA359212497DNAH5c.5280T>G (p.Asp1760Glu)
c.5235T>G (p.Asp1745Glu)
n.5487T>G
c.5388T>G (p.Asp1796Glu)
c.4293T>G (p.Asp1431Glu)
c.477T>G (p.Asp159Glu)
c.30T>G (p.Asp10Glu)
c.3882T>G (p.Asp1294Glu)
n.5405T>G
5g.13841896A>GCA443257015DNAH5c.5280T>C (p.Asp1760=)
c.5235T>C (p.Asp1745=)
n.5487T>C
c.5388T>C (p.Asp1796=)
c.4293T>C (p.Asp1431=)
c.477T>C (p.Asp159=)
c.30T>C (p.Asp10=)
c.3882T>C (p.Asp1294=)
n.5405T>C
 dbSNP
5g.13841896A>TCA359212500DNAH5c.5280T>A (p.Asp1760Glu)
c.5235T>A (p.Asp1745Glu)
n.5487T>A
c.5388T>A (p.Asp1796Glu)
c.4293T>A (p.Asp1431Glu)
c.477T>A (p.Asp159Glu)
c.30T>A (p.Asp10Glu)
c.3882T>A (p.Asp1294Glu)
n.5405T>A
5g.13841897T>ACA3203711DNAH5c.5279A>T (p.Asp1760Val)
c.5234A>T (p.Asp1745Val)
n.5486A>T
c.5387A>T (p.Asp1796Val)
c.4292A>T (p.Asp1431Val)
c.476A>T (p.Asp159Val)
c.29A>T (p.Asp10Val)
c.3881A>T (p.Asp1294Val)
n.5404A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841897T>CCA359212505DNAH5c.5279A>G (p.Asp1760Gly)
c.5234A>G (p.Asp1745Gly)
n.5486A>G
c.5387A>G (p.Asp1796Gly)
c.4292A>G (p.Asp1431Gly)
c.476A>G (p.Asp159Gly)
c.29A>G (p.Asp10Gly)
c.3881A>G (p.Asp1294Gly)
n.5404A>G
 gnomAD v4
5g.13841897T>GCA359212508DNAH5c.5279A>C (p.Asp1760Ala)
c.5234A>C (p.Asp1745Ala)
n.5486A>C
c.5387A>C (p.Asp1796Ala)
c.4292A>C (p.Asp1431Ala)
c.476A>C (p.Asp159Ala)
c.29A>C (p.Asp10Ala)
c.3881A>C (p.Asp1294Ala)
n.5404A>C
5g.13841897T=CA1528458470DNAH5c.5279A= (p.Asp1760=)
c.5234A= (p.Asp1745=)
n.5486A=
c.5387A= (p.Asp1796=)
c.4292A= (p.Asp1431=)
c.476A= (p.Asp159=)
c.29A= (p.Asp10=)
c.3881A= (p.Asp1294=)
n.5404A=
5g.13841898C>ACA359212516DNAH5c.5278G>T (p.Asp1760Tyr)
c.5233G>T (p.Asp1745Tyr)
n.5485G>T
c.5386G>T (p.Asp1796Tyr)
c.4291G>T (p.Asp1431Tyr)
c.475G>T (p.Asp159Tyr)
c.28G>T (p.Asp10Tyr)
c.3880G>T (p.Asp1294Tyr)
n.5403G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841898C=CA1528458472DNAH5c.5278G= (p.Asp1760=)
c.5233G= (p.Asp1745=)
n.5485G=
c.5386G= (p.Asp1796=)
c.4291G= (p.Asp1431=)
c.475G= (p.Asp159=)
c.28G= (p.Asp10=)
c.3880G= (p.Asp1294=)
n.5403G=
5g.13841898C>GCA359212518DNAH5c.5278G>C (p.Asp1760His)
c.5233G>C (p.Asp1745His)
n.5485G>C
c.5386G>C (p.Asp1796His)
c.4291G>C (p.Asp1431His)
c.475G>C (p.Asp159His)
c.28G>C (p.Asp10His)
c.3880G>C (p.Asp1294His)
n.5403G>C
5g.13841898C>TCA359212520DNAH5c.5278G>A (p.Asp1760Asn)
c.5233G>A (p.Asp1745Asn)
n.5485G>A
c.5386G>A (p.Asp1796Asn)
c.4291G>A (p.Asp1431Asn)
c.475G>A (p.Asp159Asn)
c.28G>A (p.Asp10Asn)
c.3880G>A (p.Asp1294Asn)
n.5403G>A
5g.13841899A>CCA359212526DNAH5c.5277T>G (p.Tyr1759Ter)
c.5232T>G (p.Tyr1744Ter)
n.5484T>G
c.5385T>G (p.Tyr1795Ter)
c.4290T>G (p.Tyr1430Ter)
c.474T>G (p.Tyr158Ter)
c.27T>G (p.Tyr9Ter)
c.3879T>G (p.Tyr1293Ter)
n.5402T>G
5g.13841899A>GCA443257027DNAH5c.5277T>C (p.Tyr1759=)
c.5232T>C (p.Tyr1744=)
n.5484T>C
c.5385T>C (p.Tyr1795=)
c.4290T>C (p.Tyr1430=)
c.474T>C (p.Tyr158=)
c.27T>C (p.Tyr9=)
c.3879T>C (p.Tyr1293=)
n.5402T>C
5g.13841899A>TCA359212528DNAH5c.5277T>A (p.Tyr1759Ter)
c.5232T>A (p.Tyr1744Ter)
n.5484T>A
c.5385T>A (p.Tyr1795Ter)
c.4290T>A (p.Tyr1430Ter)
c.474T>A (p.Tyr158Ter)
c.27T>A (p.Tyr9Ter)
c.3879T>A (p.Tyr1293Ter)
n.5402T>A
 gnomAD v4
5g.13841900T>ACA359212535DNAH5c.5276A>T (p.Tyr1759Phe)
c.5231A>T (p.Tyr1744Phe)
n.5483A>T
c.5384A>T (p.Tyr1795Phe)
c.4289A>T (p.Tyr1430Phe)
c.473A>T (p.Tyr158Phe)
c.26A>T (p.Tyr9Phe)
c.3878A>T (p.Tyr1293Phe)
n.5401A>T
 gnomAD v3 gnomAD v4
5g.13841900T>CCA3203712DNAH5c.5276A>G (p.Tyr1759Cys)
c.5231A>G (p.Tyr1744Cys)
n.5483A>G
c.5384A>G (p.Tyr1795Cys)
c.4289A>G (p.Tyr1430Cys)
c.473A>G (p.Tyr158Cys)
c.26A>G (p.Tyr9Cys)
c.3878A>G (p.Tyr1293Cys)
n.5401A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841900T>GCA359212531DNAH5c.5276A>C (p.Tyr1759Ser)
c.5231A>C (p.Tyr1744Ser)
n.5483A>C
c.5384A>C (p.Tyr1795Ser)
c.4289A>C (p.Tyr1430Ser)
c.473A>C (p.Tyr158Ser)
c.26A>C (p.Tyr9Ser)
c.3878A>C (p.Tyr1293Ser)
n.5401A>C
5g.13841900T=CA1528458473DNAH5c.5276A= (p.Tyr1759=)
c.5231A= (p.Tyr1744=)
n.5483A=
c.5384A= (p.Tyr1795=)
c.4289A= (p.Tyr1430=)
c.473A= (p.Tyr158=)
c.26A= (p.Tyr9=)
c.3878A= (p.Tyr1293=)
n.5401A=
5g.13841901A=CA1528458474DNAH5c.5275T= (p.Tyr1759=)
c.5230T= (p.Tyr1744=)
n.5482T=
c.5383T= (p.Tyr1795=)
c.4288T= (p.Tyr1430=)
c.472T= (p.Tyr158=)
c.25T= (p.Tyr9=)
c.3877T= (p.Tyr1293=)
n.5400T=
5g.13841901A>CCA359212538DNAH5c.5275T>G (p.Tyr1759Asp)
c.5230T>G (p.Tyr1744Asp)
n.5482T>G
c.5383T>G (p.Tyr1795Asp)
c.4288T>G (p.Tyr1430Asp)
c.472T>G (p.Tyr158Asp)
c.25T>G (p.Tyr9Asp)
c.3877T>G (p.Tyr1293Asp)
n.5400T>G
5g.13841901A>GCA359212539DNAH5c.5275T>C (p.Tyr1759His)
c.5230T>C (p.Tyr1744His)
n.5482T>C
c.5383T>C (p.Tyr1795His)
c.4288T>C (p.Tyr1430His)
c.472T>C (p.Tyr158His)
c.25T>C (p.Tyr9His)
c.3877T>C (p.Tyr1293His)
n.5400T>C
 gnomAD v4
5g.13841901A>TCA3203713DNAH5c.5275T>A (p.Tyr1759Asn)
c.5230T>A (p.Tyr1744Asn)
n.5482T>A
c.5383T>A (p.Tyr1795Asn)
c.4288T>A (p.Tyr1430Asn)
c.472T>A (p.Tyr158Asn)
c.25T>A (p.Tyr9Asn)
c.3877T>A (p.Tyr1293Asn)
n.5400T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13841902delCA1073394686DNAH5c.5274del (p.Tyr1759MetfsTer?)
c.5229del (p.Tyr1744MetfsTer?)
n.5481del
c.5382del (p.Tyr1795MetfsTer?)
c.4287del (p.Tyr1430MetfsTer?)
c.471del (p.Tyr158MetfsTer?)
c.24del (p.Tyr9MetfsTer?)
c.3876del (p.Tyr1293MetfsTer?)
n.5399del
 gnomAD v3 gnomAD v4
5g.13841902G>ACA443257035DNAH5c.5274C>T (p.Ile1758=)
c.5229C>T (p.Ile1743=)
n.5481C>T
c.5382C>T (p.Ile1794=)
c.4287C>T (p.Ile1429=)
c.471C>T (p.Ile157=)
c.24C>T (p.Ile8=)
c.3876C>T (p.Ile1292=)
n.5399C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13841902G>CCA359212553DNAH5c.5274C>G (p.Ile1758Met)
c.5229C>G (p.Ile1743Met)
n.5481C>G
c.5382C>G (p.Ile1794Met)
c.4287C>G (p.Ile1429Met)
c.471C>G (p.Ile157Met)
c.24C>G (p.Ile8Met)
c.3876C>G (p.Ile1292Met)
n.5399C>G
 gnomAD v4
5g.13841902G>TCA443257039DNAH5c.5274C>A (p.Ile1758=)
c.5229C>A (p.Ile1743=)
n.5481C>A
c.5382C>A (p.Ile1794=)
c.4287C>A (p.Ile1429=)
c.471C>A (p.Ile157=)
c.24C>A (p.Ile8=)
c.3876C>A (p.Ile1292=)
n.5399C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13841902_13841905delCA2765349681DNAH5c.5272-1_5274del
c.5227-1_5229del
n.5479-1_5481del
c.5380-1_5382del
c.4285-1_4287del
c.469-1_471del
c.22-1_24del
c.3874-1_3876del
n.5397-1_5399del
5g.13841903A>CCA359212555DNAH5c.5273T>G (p.Ile1758Ser)
c.5228T>G (p.Ile1743Ser)
n.5480T>G
c.5381T>G (p.Ile1794Ser)
c.4286T>G (p.Ile1429Ser)
c.470T>G (p.Ile157Ser)
c.23T>G (p.Ile8Ser)
c.3875T>G (p.Ile1292Ser)
n.5398T>G
5g.13841903A>GCA359212557DNAH5c.5273T>C (p.Ile1758Thr)
c.5228T>C (p.Ile1743Thr)
n.5480T>C
c.5381T>C (p.Ile1794Thr)
c.4286T>C (p.Ile1429Thr)
c.470T>C (p.Ile157Thr)
c.23T>C (p.Ile8Thr)
c.3875T>C (p.Ile1292Thr)
n.5398T>C
 gnomAD v4
5g.13841903A>TCA359212560DNAH5c.5273T>A (p.Ile1758Asn)
c.5228T>A (p.Ile1743Asn)
n.5480T>A
c.5381T>A (p.Ile1794Asn)
c.4286T>A (p.Ile1429Asn)
c.470T>A (p.Ile157Asn)
c.23T>A (p.Ile8Asn)
c.3875T>A (p.Ile1292Asn)
n.5398T>A
 gnomAD v3 gnomAD v4
5g.13841904T>ACA359212563DNAH5c.5272A>T (p.Ile1758Phe)
c.5227A>T (p.Ile1743Phe)
n.5479A>T
c.5380A>T (p.Ile1794Phe)
c.4285A>T (p.Ile1429Phe)
c.469A>T (p.Ile157Phe)
c.22A>T (p.Ile8Phe)
c.3874A>T (p.Ile1292Phe)
n.5397A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841904T>CCA359212565DNAH5c.5272A>G (p.Ile1758Val)
c.5227A>G (p.Ile1743Val)
n.5479A>G
c.5380A>G (p.Ile1794Val)
c.4285A>G (p.Ile1429Val)
c.469A>G (p.Ile157Val)
c.22A>G (p.Ile8Val)
c.3874A>G (p.Ile1292Val)
n.5397A>G
 gnomAD v3 gnomAD v4
5g.13841904T>GCA359212566DNAH5c.5272A>C (p.Ile1758Leu)
c.5227A>C (p.Ile1743Leu)
n.5479A>C
c.5380A>C (p.Ile1794Leu)
c.4285A>C (p.Ile1429Leu)
c.469A>C (p.Ile157Leu)
c.22A>C (p.Ile8Leu)
c.3874A>C (p.Ile1292Leu)
n.5397A>C
 gnomAD v4
5g.13841904T=CA1528458475DNAH5c.5272A= (p.Ile1758=)
c.5227A= (p.Ile1743=)
n.5479A=
c.5380A= (p.Ile1794=)
c.4285A= (p.Ile1429=)
c.469A= (p.Ile157=)
c.22A= (p.Ile8=)
c.3874A= (p.Ile1292=)
n.5397A=
5g.13841905_13841906delCA2765349682DNAH5c.5272-1_5272del
c.5227-1_5227del
n.5479-1_5479del
c.5380-1_5380del
c.4285-1_4285del
c.469-1_469del
c.22-1_22del
c.3874-1_3874del
n.5397-1_5397del
5g.13841904_13841911delCA1073394687DNAH5c.5272-7_5272del
c.5227-7_5227del
n.5479-7_5479del
c.5380-7_5380del
c.4285-7_4285del
c.469-7_469del
c.22-7_22del
c.3874-7_3874del
n.5397-7_5397del
 gnomAD v3 gnomAD v4
5g.13841905C>ACA359212568DNAH5c.5272-1G>T (n.5272-1G>T)
c.5227-1G>T (n.5227-1G>T)
n.5479-1G>T
c.5380-1G>T (n.5380-1G>T)
c.4285-1G>T (n.4285-1G>T)
c.469-1G>T (n.469-1G>T)
c.22-1G>T (n.22-1G>T)
c.3874-1G>T (n.3874-1G>T)
n.5397-1G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841905C=CA1528458477DNAH5c.5272-1G= (n.5272-1G=)
c.5227-1G= (n.5227-1G=)
n.5479-1G=
c.5380-1G= (n.5380-1G=)
c.4285-1G= (n.4285-1G=)
c.469-1G= (n.469-1G=)
c.22-1G= (n.22-1G=)
c.3874-1G= (n.3874-1G=)
n.5397-1G=
5g.13841905C>GCA359212570DNAH5c.5272-1G>C (n.5272-1G>C)
c.5227-1G>C (n.5227-1G>C)
n.5479-1G>C
c.5380-1G>C (n.5380-1G>C)
c.4285-1G>C (n.4285-1G>C)
c.469-1G>C (n.469-1G>C)
c.22-1G>C (n.22-1G>C)
c.3874-1G>C (n.3874-1G>C)
n.5397-1G>C
5g.13841905C>TCA359212572DNAH5c.5272-1G>A (n.5272-1G>A)
c.5227-1G>A (n.5227-1G>A)
n.5479-1G>A
c.5380-1G>A (n.5380-1G>A)
c.4285-1G>A (n.4285-1G>A)
c.469-1G>A (n.469-1G>A)
c.22-1G>A (n.22-1G>A)
c.3874-1G>A (n.3874-1G>A)
n.5397-1G>A
 ClinVar gnomAD v3 gnomAD v4
5g.13841906T>ACA359212578DNAH5c.5272-2A>T (n.5272-2A>T)
c.5227-2A>T (n.5227-2A>T)
n.5479-2A>T
c.5380-2A>T (n.5380-2A>T)
c.4285-2A>T (n.4285-2A>T)
c.469-2A>T (n.469-2A>T)
c.22-2A>T (n.22-2A>T)
c.3874-2A>T (n.3874-2A>T)
n.5397-2A>T
 gnomAD v3 gnomAD v4
5g.13841906T>CCA359212580DNAH5c.5272-2A>G (n.5272-2A>G)
c.5227-2A>G (n.5227-2A>G)
n.5479-2A>G
c.5380-2A>G (n.5380-2A>G)
c.4285-2A>G (n.4285-2A>G)
c.469-2A>G (n.469-2A>G)
c.22-2A>G (n.22-2A>G)
c.3874-2A>G (n.3874-2A>G)
n.5397-2A>G
 gnomAD v4
5g.13841906T>GCA359212575DNAH5c.5272-2A>C (n.5272-2A>C)
c.5227-2A>C (n.5227-2A>C)
n.5479-2A>C
c.5380-2A>C (n.5380-2A>C)
c.4285-2A>C (n.4285-2A>C)
c.469-2A>C (n.469-2A>C)
c.22-2A>C (n.22-2A>C)
c.3874-2A>C (n.3874-2A>C)
n.5397-2A>C
5g.13841907_13841908delCA2673274338DNAH5c.5272-3_5272-2del (n.5272-3_5272-2del)
c.5227-3_5227-2del (n.5227-3_5227-2del)
n.5479-3_5479-2del
c.5380-3_5380-2del (n.5380-3_5380-2del)
c.4285-3_4285-2del (n.4285-3_4285-2del)
c.469-3_469-2del (n.469-3_469-2del)
c.22-3_22-2del (n.22-3_22-2del)
c.3874-3_3874-2del (n.3874-3_3874-2del)
n.5397-3_5397-2del
 gnomAD v4
5g.13841907A=CA1528458478DNAH5c.5272-3T= (n.5272-3T=)
c.5227-3T= (n.5227-3T=)
n.5479-3T=
c.5380-3T= (n.5380-3T=)
c.4285-3T= (n.4285-3T=)
c.469-3T= (n.469-3T=)
c.22-3T= (n.22-3T=)
c.3874-3T= (n.3874-3T=)
n.5397-3T=
5g.13841907A>GCA557871716DNAH5c.5272-3T>C (n.5272-3T>C)
c.5227-3T>C (n.5227-3T>C)
n.5479-3T>C
c.5380-3T>C (n.5380-3T>C)
c.4285-3T>C (n.4285-3T>C)
c.469-3T>C (n.469-3T>C)
c.22-3T>C (n.22-3T>C)
c.3874-3T>C (n.3874-3T>C)
n.5397-3T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841907A>TCA2673274339DNAH5c.5272-3T>A (n.5272-3T>A)
c.5227-3T>A (n.5227-3T>A)
n.5479-3T>A
c.5380-3T>A (n.5380-3T>A)
c.4285-3T>A (n.4285-3T>A)
c.469-3T>A (n.469-3T>A)
c.22-3T>A (n.22-3T>A)
c.3874-3T>A (n.3874-3T>A)
n.5397-3T>A
 dbSNP gnomAD v4
5g.13841908T>ACA3203714DNAH5c.5272-4A>T (n.5272-4A>T)
c.5227-4A>T (n.5227-4A>T)
n.5479-4A>T
c.5380-4A>T (n.5380-4A>T)
c.4285-4A>T (n.4285-4A>T)
c.469-4A>T (n.469-4A>T)
c.22-4A>T (n.22-4A>T)
c.3874-4A>T (n.3874-4A>T)
n.5397-4A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841908T>CCA2573138487DNAH5c.5272-4A>G (n.5272-4A>G)
c.5227-4A>G (n.5227-4A>G)
n.5479-4A>G
c.5380-4A>G (n.5380-4A>G)
c.4285-4A>G (n.4285-4A>G)
c.469-4A>G (n.469-4A>G)
c.22-4A>G (n.22-4A>G)
c.3874-4A>G (n.3874-4A>G)
n.5397-4A>G
 ClinVar dbSNP gnomAD v4
5g.13841908T>GCA1073394694DNAH5c.5272-4A>C (n.5272-4A>C)
c.5227-4A>C (n.5227-4A>C)
n.5479-4A>C
c.5380-4A>C (n.5380-4A>C)
c.4285-4A>C (n.4285-4A>C)
c.469-4A>C (n.469-4A>C)
c.22-4A>C (n.22-4A>C)
c.3874-4A>C (n.3874-4A>C)
n.5397-4A>C
 gnomAD v3 gnomAD v4
5g.13841908T=CA1528458479DNAH5c.5272-4A= (n.5272-4A=)
c.5227-4A= (n.5227-4A=)
n.5479-4A=
c.5380-4A= (n.5380-4A=)
c.4285-4A= (n.4285-4A=)
c.469-4A= (n.469-4A=)
c.22-4A= (n.22-4A=)
c.3874-4A= (n.3874-4A=)
n.5397-4A=
5g.13841908_13841909delinsTGCA1528458481DNAH5c.5272-5_5272-4delinsCA (n.5272-5_5272-4delinsCA)
c.5227-5_5227-4delinsCA (n.5227-5_5227-4delinsCA)
n.5479-5_5479-4delinsCA
c.5380-5_5380-4delinsCA (n.5380-5_5380-4delinsCA)
c.4285-5_4285-4delinsCA (n.4285-5_4285-4delinsCA)
c.469-5_469-4delinsCA (n.469-5_469-4delinsCA)
c.22-5_22-4delinsCA (n.22-5_22-4delinsCA)
c.3874-5_3874-4delinsCA (n.3874-5_3874-4delinsCA)
n.5397-5_5397-4delinsCA
5g.13841908_13841911delCA2765349684DNAH5c.5272-7_5272-4del (n.5272-7_5272-4del)
c.5227-7_5227-4del (n.5227-7_5227-4del)
n.5479-7_5479-4del
c.5380-7_5380-4del (n.5380-7_5380-4del)
c.4285-7_4285-4del (n.4285-7_4285-4del)
c.469-7_469-4del (n.469-7_469-4del)
c.22-7_22-4del (n.22-7_22-4del)
c.3874-7_3874-4del (n.3874-7_3874-4del)
n.5397-7_5397-4del
5g.13841909_13841911delCA2765349683DNAH5c.5272-6_5272-4del (n.5272-6_5272-4del)
c.5227-6_5227-4del (n.5227-6_5227-4del)
n.5479-6_5479-4del
c.5380-6_5380-4del (n.5380-6_5380-4del)
c.4285-6_4285-4del (n.4285-6_4285-4del)
c.469-6_469-4del (n.469-6_469-4del)
c.22-6_22-4del (n.22-6_22-4del)
c.3874-6_3874-4del (n.3874-6_3874-4del)
n.5397-6_5397-4del
5g.13841908_13841918delCA2765349685DNAH5c.5272-14_5272-4del (n.5272-14_5272-4del)
c.5227-14_5227-4del (n.5227-14_5227-4del)
n.5479-14_5479-4del
c.5380-14_5380-4del (n.5380-14_5380-4del)
c.4285-14_4285-4del (n.4285-14_4285-4del)
c.469-14_469-4del (n.469-14_469-4del)
c.22-14_22-4del (n.22-14_22-4del)
c.3874-14_3874-4del (n.3874-14_3874-4del)
n.5397-14_5397-4del
5g.13841909delCA1528458485DNAH5c.5272-5del (n.5272-5del)
c.5227-5del (n.5227-5del)
n.5479-5del
c.5380-5del (n.5380-5del)
c.4285-5del (n.4285-5del)
c.469-5del (n.469-5del)
c.22-5del (n.22-5del)
c.3874-5del (n.3874-5del)
n.5397-5del
 dbSNP
5g.13841909G>ACA557871717DNAH5c.5272-5C>T (n.5272-5C>T)
c.5227-5C>T (n.5227-5C>T)
n.5479-5C>T
c.5380-5C>T (n.5380-5C>T)
c.4285-5C>T (n.4285-5C>T)
c.469-5C>T (n.469-5C>T)
c.22-5C>T (n.22-5C>T)
c.3874-5C>T (n.3874-5C>T)
n.5397-5C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13841909G>CCA1073394696DNAH5c.5272-5C>G (n.5272-5C>G)
c.5227-5C>G (n.5227-5C>G)
n.5479-5C>G
c.5380-5C>G (n.5380-5C>G)
c.4285-5C>G (n.4285-5C>G)
c.469-5C>G (n.469-5C>G)
c.22-5C>G (n.22-5C>G)
c.3874-5C>G (n.3874-5C>G)
n.5397-5C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13841909G=CA1528458483DNAH5c.5272-5C= (n.5272-5C=)
c.5227-5C= (n.5227-5C=)
n.5479-5C=
c.5380-5C= (n.5380-5C=)
c.4285-5C= (n.4285-5C=)
c.469-5C= (n.469-5C=)
c.22-5C= (n.22-5C=)
c.3874-5C= (n.3874-5C=)
n.5397-5C=
5g.13841909G>TCA3203715DNAH5c.5272-5C>A (n.5272-5C>A)
c.5227-5C>A (n.5227-5C>A)
n.5479-5C>A
c.5380-5C>A (n.5380-5C>A)
c.4285-5C>A (n.4285-5C>A)
c.469-5C>A (n.469-5C>A)
c.22-5C>A (n.22-5C>A)
c.3874-5C>A (n.3874-5C>A)
n.5397-5C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13841910T>ACA1073394708DNAH5c.5272-6A>T (n.5272-6A>T)
c.5227-6A>T (n.5227-6A>T)
n.5479-6A>T
c.5380-6A>T (n.5380-6A>T)
c.4285-6A>T (n.4285-6A>T)
c.469-6A>T (n.469-6A>T)
c.22-6A>T (n.22-6A>T)
c.3874-6A>T (n.3874-6A>T)
n.5397-6A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13841910T>CCA1073394705DNAH5c.5272-6A>G (n.5272-6A>G)
c.5227-6A>G (n.5227-6A>G)
n.5479-6A>G
c.5380-6A>G (n.5380-6A>G)
c.4285-6A>G (n.4285-6A>G)
c.469-6A>G (n.469-6A>G)
c.22-6A>G (n.22-6A>G)
c.3874-6A>G (n.3874-6A>G)
n.5397-6A>G
 gnomAD v3 gnomAD v4
5g.13841910T>GCA1528458490DNAH5c.5272-6A>C (n.5272-6A>C)
c.5227-6A>C (n.5227-6A>C)
n.5479-6A>C
c.5380-6A>C (n.5380-6A>C)
c.4285-6A>C (n.4285-6A>C)
c.469-6A>C (n.469-6A>C)
c.22-6A>C (n.22-6A>C)
c.3874-6A>C (n.3874-6A>C)
n.5397-6A>C
 dbSNP gnomAD v4
5g.13841910T=CA1528458489DNAH5c.5272-6A= (n.5272-6A=)
c.5227-6A= (n.5227-6A=)
n.5479-6A=
c.5380-6A= (n.5380-6A=)
c.4285-6A= (n.4285-6A=)
c.469-6A= (n.469-6A=)
c.22-6A= (n.22-6A=)
c.3874-6A= (n.3874-6A=)
n.5397-6A=
5g.13841910_13841911delCA2673274340DNAH5c.5272-7_5272-6del (n.5272-7_5272-6del)
c.5227-7_5227-6del (n.5227-7_5227-6del)
n.5479-7_5479-6del
c.5380-7_5380-6del (n.5380-7_5380-6del)
c.4285-7_4285-6del (n.4285-7_4285-6del)
c.469-7_469-6del (n.469-7_469-6del)
c.22-7_22-6del (n.22-7_22-6del)
c.3874-7_3874-6del (n.3874-7_3874-6del)
n.5397-7_5397-6del
 gnomAD v4
5g.13841911delCA1073394703DNAH5c.5272-6del (n.5272-6del)
c.5227-6del (n.5227-6del)
n.5479-6del
c.5380-6del (n.5380-6del)
c.4285-6del (n.4285-6del)
c.469-6del (n.469-6del)
c.22-6del (n.22-6del)
c.3874-6del (n.3874-6del)
n.5397-6del
 gnomAD v3 gnomAD v4

Number of alleles fetched