Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13830601A>CCA359202053DNAH5n.988T>G
c.6057T>G (p.Phe2019Leu)
c.6012T>G (p.Phe2004Leu)
n.6264T>G
c.6165T>G (p.Phe2055Leu)
c.5070T>G (p.Phe1690Leu)
c.1254T>G (p.Phe418Leu)
c.807T>G (p.Phe269Leu)
c.144T>G (p.Phe48Leu)
c.4659T>G (p.Phe1553Leu)
n.6182T>G
5g.13830601A>GCA443252728DNAH5n.988T>C
c.6057T>C (p.Phe2019=)
c.6012T>C (p.Phe2004=)
n.6264T>C
c.6165T>C (p.Phe2055=)
c.5070T>C (p.Phe1690=)
c.1254T>C (p.Phe418=)
c.807T>C (p.Phe269=)
c.144T>C (p.Phe48=)
c.4659T>C (p.Phe1553=)
n.6182T>C
5g.13830601A>TCA359202055DNAH5n.988T>A
c.6057T>A (p.Phe2019Leu)
c.6012T>A (p.Phe2004Leu)
n.6264T>A
c.6165T>A (p.Phe2055Leu)
c.5070T>A (p.Phe1690Leu)
c.1254T>A (p.Phe418Leu)
c.807T>A (p.Phe269Leu)
c.144T>A (p.Phe48Leu)
c.4659T>A (p.Phe1553Leu)
n.6182T>A
5g.13830605delCA2673273813DNAH5n.988del
c.6057del (p.Phe2019LeufsTer?)
c.6012del (p.Phe2004LeufsTer?)
n.6264del
c.6165del (p.Phe2055LeufsTer?)
c.5070del (p.Phe1690LeufsTer?)
c.1254del (p.Phe418LeufsTer?)
c.807del (p.Phe269LeufsTer?)
c.144del (p.Phe48LeufsTer?)
c.4659del (p.Phe1553LeufsTer?)
n.6182del
 gnomAD v4
5g.13830602A>CCA359202056DNAH5n.987T>G
c.6056T>G (p.Phe2019Cys)
c.6011T>G (p.Phe2004Cys)
n.6263T>G
c.6164T>G (p.Phe2055Cys)
c.5069T>G (p.Phe1690Cys)
c.1253T>G (p.Phe418Cys)
c.806T>G (p.Phe269Cys)
c.143T>G (p.Phe48Cys)
c.4658T>G (p.Phe1553Cys)
n.6181T>G
5g.13830602A>GCA359202057DNAH5n.987T>C
c.6056T>C (p.Phe2019Ser)
c.6011T>C (p.Phe2004Ser)
n.6263T>C
c.6164T>C (p.Phe2055Ser)
c.5069T>C (p.Phe1690Ser)
c.1253T>C (p.Phe418Ser)
c.806T>C (p.Phe269Ser)
c.143T>C (p.Phe48Ser)
c.4658T>C (p.Phe1553Ser)
n.6181T>C
5g.13830602A>TCA359202060DNAH5n.987T>A
c.6056T>A (p.Phe2019Tyr)
c.6011T>A (p.Phe2004Tyr)
n.6263T>A
c.6164T>A (p.Phe2055Tyr)
c.5069T>A (p.Phe1690Tyr)
c.1253T>A (p.Phe418Tyr)
c.806T>A (p.Phe269Tyr)
c.143T>A (p.Phe48Tyr)
c.4658T>A (p.Phe1553Tyr)
n.6181T>A
5g.13830603A=CA1528458738DNAH5n.986T=
c.6055T= (p.Phe2019=)
c.6010T= (p.Phe2004=)
n.6262T=
c.6163T= (p.Phe2055=)
c.5068T= (p.Phe1690=)
c.1252T= (p.Phe418=)
c.805T= (p.Phe269=)
c.142T= (p.Phe48=)
c.4657T= (p.Phe1553=)
n.6180T=
5g.13830603A>CCA359202068DNAH5n.986T>G
c.6055T>G (p.Phe2019Val)
c.6010T>G (p.Phe2004Val)
n.6262T>G
c.6163T>G (p.Phe2055Val)
c.5068T>G (p.Phe1690Val)
c.1252T>G (p.Phe418Val)
c.805T>G (p.Phe269Val)
c.142T>G (p.Phe48Val)
c.4657T>G (p.Phe1553Val)
n.6180T>G
5g.13830603A>GCA359202075DNAH5n.986T>C
c.6055T>C (p.Phe2019Leu)
c.6010T>C (p.Phe2004Leu)
n.6262T>C
c.6163T>C (p.Phe2055Leu)
c.5068T>C (p.Phe1690Leu)
c.1252T>C (p.Phe418Leu)
c.805T>C (p.Phe269Leu)
c.142T>C (p.Phe48Leu)
c.4657T>C (p.Phe1553Leu)
n.6180T>C
 dbSNP
5g.13830603A>TCA359202070DNAH5n.986T>A
c.6055T>A (p.Phe2019Ile)
c.6010T>A (p.Phe2004Ile)
n.6262T>A
c.6163T>A (p.Phe2055Ile)
c.5068T>A (p.Phe1690Ile)
c.1252T>A (p.Phe418Ile)
c.805T>A (p.Phe269Ile)
c.142T>A (p.Phe48Ile)
c.4657T>A (p.Phe1553Ile)
n.6180T>A
5g.13830604A>CCA359202076DNAH5n.985T>G
c.6054T>G (p.Ile2018Met)
c.6009T>G (p.Ile2003Met)
n.6261T>G
c.6162T>G (p.Ile2054Met)
c.5067T>G (p.Ile1689Met)
c.1251T>G (p.Ile417Met)
c.804T>G (p.Ile268Met)
c.141T>G (p.Ile47Met)
c.4656T>G (p.Ile1552Met)
n.6179T>G
5g.13830604A>GCA443252730DNAH5n.985T>C
c.6054T>C (p.Ile2018=)
c.6009T>C (p.Ile2003=)
n.6261T>C
c.6162T>C (p.Ile2054=)
c.5067T>C (p.Ile1689=)
c.1251T>C (p.Ile417=)
c.804T>C (p.Ile268=)
c.141T>C (p.Ile47=)
c.4656T>C (p.Ile1552=)
n.6179T>C
5g.13830604A>TCA443252731DNAH5n.985T>A
c.6054T>A (p.Ile2018=)
c.6009T>A (p.Ile2003=)
n.6261T>A
c.6162T>A (p.Ile2054=)
c.5067T>A (p.Ile1689=)
c.1251T>A (p.Ile417=)
c.804T>A (p.Ile268=)
c.141T>A (p.Ile47=)
c.4656T>A (p.Ile1552=)
n.6179T>A
5g.13830605A=CA1528458739DNAH5n.984T=
c.6053T= (p.Ile2018=)
c.6008T= (p.Ile2003=)
n.6260T=
c.6161T= (p.Ile2054=)
c.5066T= (p.Ile1689=)
c.1250T= (p.Ile417=)
c.803T= (p.Ile268=)
c.140T= (p.Ile47=)
c.4655T= (p.Ile1552=)
n.6178T=
5g.13830605A>CCA359202084DNAH5n.984T>G
c.6053T>G (p.Ile2018Ser)
c.6008T>G (p.Ile2003Ser)
n.6260T>G
c.6161T>G (p.Ile2054Ser)
c.5066T>G (p.Ile1689Ser)
c.1250T>G (p.Ile417Ser)
c.803T>G (p.Ile268Ser)
c.140T>G (p.Ile47Ser)
c.4655T>G (p.Ile1552Ser)
n.6178T>G
5g.13830605A>GCA3203497DNAH5n.984T>C
c.6053T>C (p.Ile2018Thr)
c.6008T>C (p.Ile2003Thr)
n.6260T>C
c.6161T>C (p.Ile2054Thr)
c.5066T>C (p.Ile1689Thr)
c.1250T>C (p.Ile417Thr)
c.803T>C (p.Ile268Thr)
c.140T>C (p.Ile47Thr)
c.4655T>C (p.Ile1552Thr)
n.6178T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830605A>TCA359202082DNAH5n.984T>A
c.6053T>A (p.Ile2018Asn)
c.6008T>A (p.Ile2003Asn)
n.6260T>A
c.6161T>A (p.Ile2054Asn)
c.5066T>A (p.Ile1689Asn)
c.1250T>A (p.Ile417Asn)
c.803T>A (p.Ile268Asn)
c.140T>A (p.Ile47Asn)
c.4655T>A (p.Ile1552Asn)
n.6178T>A
5g.13830606T>ACA359202100DNAH5n.983A>T
c.6052A>T (p.Ile2018Phe)
c.6007A>T (p.Ile2003Phe)
n.6259A>T
c.6160A>T (p.Ile2054Phe)
c.5065A>T (p.Ile1689Phe)
c.1249A>T (p.Ile417Phe)
c.802A>T (p.Ile268Phe)
c.139A>T (p.Ile47Phe)
c.4654A>T (p.Ile1552Phe)
n.6177A>T
5g.13830606T>CCA359202104DNAH5n.983A>G
c.6052A>G (p.Ile2018Val)
c.6007A>G (p.Ile2003Val)
n.6259A>G
c.6160A>G (p.Ile2054Val)
c.5065A>G (p.Ile1689Val)
c.1249A>G (p.Ile417Val)
c.802A>G (p.Ile268Val)
c.139A>G (p.Ile47Val)
c.4654A>G (p.Ile1552Val)
n.6177A>G
5g.13830606T>GCA359202105DNAH5n.983A>C
c.6052A>C (p.Ile2018Leu)
c.6007A>C (p.Ile2003Leu)
n.6259A>C
c.6160A>C (p.Ile2054Leu)
c.5065A>C (p.Ile1689Leu)
c.1249A>C (p.Ile417Leu)
c.802A>C (p.Ile268Leu)
c.139A>C (p.Ile47Leu)
c.4654A>C (p.Ile1552Leu)
n.6177A>C
5g.13830607C>ACA443252735DNAH5n.982G>T
c.6051G>T (p.Arg2017=)
c.6006G>T (p.Arg2002=)
n.6258G>T
c.6159G>T (p.Arg2053=)
c.5064G>T (p.Arg1688=)
c.1248G>T (p.Arg416=)
c.801G>T (p.Arg267=)
c.138G>T (p.Arg46=)
c.4653G>T (p.Arg1551=)
n.6176G>T
5g.13830607C>GCA443252736DNAH5n.982G>C
c.6051G>C (p.Arg2017=)
c.6006G>C (p.Arg2002=)
n.6258G>C
c.6159G>C (p.Arg2053=)
c.5064G>C (p.Arg1688=)
c.1248G>C (p.Arg416=)
c.801G>C (p.Arg267=)
c.138G>C (p.Arg46=)
c.4653G>C (p.Arg1551=)
n.6176G>C
5g.13830607C>TCA443252737DNAH5n.982G>A
c.6051G>A (p.Arg2017=)
c.6006G>A (p.Arg2002=)
n.6258G>A
c.6159G>A (p.Arg2053=)
c.5064G>A (p.Arg1688=)
c.1248G>A (p.Arg416=)
c.801G>A (p.Arg267=)
c.138G>A (p.Arg46=)
c.4653G>A (p.Arg1551=)
n.6176G>A
 COSMIC
5g.13830608C>ACA359202106DNAH5n.981G>T
c.6050G>T (p.Arg2017Leu)
c.6005G>T (p.Arg2002Leu)
n.6257G>T
c.6158G>T (p.Arg2053Leu)
c.5063G>T (p.Arg1688Leu)
c.1247G>T (p.Arg416Leu)
c.800G>T (p.Arg267Leu)
c.137G>T (p.Arg46Leu)
c.4652G>T (p.Arg1551Leu)
n.6175G>T
5g.13830608C=CA1528458740DNAH5n.981G=
c.6050G= (p.Arg2017=)
c.6005G= (p.Arg2002=)
n.6257G=
c.6158G= (p.Arg2053=)
c.5063G= (p.Arg1688=)
c.1247G= (p.Arg416=)
c.800G= (p.Arg267=)
c.137G= (p.Arg46=)
c.4652G= (p.Arg1551=)
n.6175G=
5g.13830608C>GCA359202110DNAH5n.981G>C
c.6050G>C (p.Arg2017Pro)
c.6005G>C (p.Arg2002Pro)
n.6257G>C
c.6158G>C (p.Arg2053Pro)
c.5063G>C (p.Arg1688Pro)
c.1247G>C (p.Arg416Pro)
c.800G>C (p.Arg267Pro)
c.137G>C (p.Arg46Pro)
c.4652G>C (p.Arg1551Pro)
n.6175G>C
5g.13830608C>TCA113938409DNAH5n.981G>A
c.6050G>A (p.Arg2017Gln)
c.6005G>A (p.Arg2002Gln)
n.6257G>A
c.6158G>A (p.Arg2053Gln)
c.5063G>A (p.Arg1688Gln)
c.1247G>A (p.Arg416Gln)
c.800G>A (p.Arg267Gln)
c.137G>A (p.Arg46Gln)
c.4652G>A (p.Arg1551Gln)
n.6175G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13830609G>ACA3203498DNAH5n.980C>T
c.6049C>T (p.Arg2017Trp)
c.6004C>T (p.Arg2002Trp)
n.6256C>T
c.6157C>T (p.Arg2053Trp)
c.5062C>T (p.Arg1688Trp)
c.1246C>T (p.Arg416Trp)
c.799C>T (p.Arg267Trp)
c.136C>T (p.Arg46Trp)
c.4651C>T (p.Arg1551Trp)
n.6174C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830609G>CCA113938415DNAH5n.980C>G
c.6049C>G (p.Arg2017Gly)
c.6004C>G (p.Arg2002Gly)
n.6256C>G
c.6157C>G (p.Arg2053Gly)
c.5062C>G (p.Arg1688Gly)
c.1246C>G (p.Arg416Gly)
c.799C>G (p.Arg267Gly)
c.136C>G (p.Arg46Gly)
c.4651C>G (p.Arg1551Gly)
n.6174C>G
 ClinVar dbSNP gnomAD v4
5g.13830609G=CA1528458741DNAH5n.980C=
c.6049C= (p.Arg2017=)
c.6004C= (p.Arg2002=)
n.6256C=
c.6157C= (p.Arg2053=)
c.5062C= (p.Arg1688=)
c.1246C= (p.Arg416=)
c.799C= (p.Arg267=)
c.136C= (p.Arg46=)
c.4651C= (p.Arg1551=)
n.6174C=
5g.13830609G>TCA443252739DNAH5n.980C>A
c.6049C>A (p.Arg2017=)
c.6004C>A (p.Arg2002=)
n.6256C>A
c.6157C>A (p.Arg2053=)
c.5062C>A (p.Arg1688=)
c.1246C>A (p.Arg416=)
c.799C>A (p.Arg267=)
c.136C>A (p.Arg46=)
c.4651C>A (p.Arg1551=)
n.6174C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13830610T>ACA443252740DNAH5n.979A>T
c.6048A>T (p.Gly2016=)
c.6003A>T (p.Gly2001=)
n.6255A>T
c.6156A>T (p.Gly2052=)
c.5061A>T (p.Gly1687=)
c.1245A>T (p.Gly415=)
c.798A>T (p.Gly266=)
c.135A>T (p.Gly45=)
c.4650A>T (p.Gly1550=)
n.6173A>T
5g.13830610T>CCA443252743DNAH5n.979A>G
c.6048A>G (p.Gly2016=)
c.6003A>G (p.Gly2001=)
n.6255A>G
c.6156A>G (p.Gly2052=)
c.5061A>G (p.Gly1687=)
c.1245A>G (p.Gly415=)
c.798A>G (p.Gly266=)
c.135A>G (p.Gly45=)
c.4650A>G (p.Gly1550=)
n.6173A>G
 ClinVar dbSNP
5g.13830610T>GCA443252742DNAH5n.979A>C
c.6048A>C (p.Gly2016=)
c.6003A>C (p.Gly2001=)
n.6255A>C
c.6156A>C (p.Gly2052=)
c.5061A>C (p.Gly1687=)
c.1245A>C (p.Gly415=)
c.798A>C (p.Gly266=)
c.135A>C (p.Gly45=)
c.4650A>C (p.Gly1550=)
n.6173A>C
5g.13830610T=CA1528458742DNAH5n.979A=
c.6048A= (p.Gly2016=)
c.6003A= (p.Gly2001=)
n.6255A=
c.6156A= (p.Gly2052=)
c.5061A= (p.Gly1687=)
c.1245A= (p.Gly415=)
c.798A= (p.Gly266=)
c.135A= (p.Gly45=)
c.4650A= (p.Gly1550=)
n.6173A=
5g.13830611C>ACA359202124DNAH5n.978G>T
c.6047G>T (p.Gly2016Val)
c.6002G>T (p.Gly2001Val)
n.6254G>T
c.6155G>T (p.Gly2052Val)
c.5060G>T (p.Gly1687Val)
c.1244G>T (p.Gly415Val)
c.797G>T (p.Gly266Val)
c.134G>T (p.Gly45Val)
c.4649G>T (p.Gly1550Val)
n.6172G>T
 dbSNP
5g.13830611C=CA1528458743DNAH5n.978G=
c.6047G= (p.Gly2016=)
c.6002G= (p.Gly2001=)
n.6254G=
c.6155G= (p.Gly2052=)
c.5060G= (p.Gly1687=)
c.1244G= (p.Gly415=)
c.797G= (p.Gly266=)
c.134G= (p.Gly45=)
c.4649G= (p.Gly1550=)
n.6172G=
5g.13830611C>GCA359202127DNAH5n.978G>C
c.6047G>C (p.Gly2016Ala)
c.6002G>C (p.Gly2001Ala)
n.6254G>C
c.6155G>C (p.Gly2052Ala)
c.5060G>C (p.Gly1687Ala)
c.1244G>C (p.Gly415Ala)
c.797G>C (p.Gly266Ala)
c.134G>C (p.Gly45Ala)
c.4649G>C (p.Gly1550Ala)
n.6172G>C
 gnomAD v4
5g.13830611C>TCA359202131DNAH5n.978G>A
c.6047G>A (p.Gly2016Glu)
c.6002G>A (p.Gly2001Glu)
n.6254G>A
c.6155G>A (p.Gly2052Glu)
c.5060G>A (p.Gly1687Glu)
c.1244G>A (p.Gly415Glu)
c.797G>A (p.Gly266Glu)
c.134G>A (p.Gly45Glu)
c.4649G>A (p.Gly1550Glu)
n.6172G>A
5g.13830612C>ACA359202141DNAH5n.977G>T
c.6046G>T (p.Gly2016Ter)
c.6001G>T (p.Gly2001Ter)
n.6253G>T
c.6154G>T (p.Gly2052Ter)
c.5059G>T (p.Gly1687Ter)
c.1243G>T (p.Gly415Ter)
c.796G>T (p.Gly266Ter)
c.133G>T (p.Gly45Ter)
c.4648G>T (p.Gly1550Ter)
n.6171G>T
 gnomAD v4
5g.13830612C=CA1528458744DNAH5n.977G=
c.6046G= (p.Gly2016=)
c.6001G= (p.Gly2001=)
n.6253G=
c.6154G= (p.Gly2052=)
c.5059G= (p.Gly1687=)
c.1243G= (p.Gly415=)
c.796G= (p.Gly266=)
c.133G= (p.Gly45=)
c.4648G= (p.Gly1550=)
n.6171G=
5g.13830612C>GCA3203499DNAH5n.977G>C
c.6046G>C (p.Gly2016Arg)
c.6001G>C (p.Gly2001Arg)
n.6253G>C
c.6154G>C (p.Gly2052Arg)
c.5059G>C (p.Gly1687Arg)
c.1243G>C (p.Gly415Arg)
c.796G>C (p.Gly266Arg)
c.133G>C (p.Gly45Arg)
c.4648G>C (p.Gly1550Arg)
n.6171G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830612C>TCA359202138DNAH5n.977G>A
c.6046G>A (p.Gly2016Arg)
c.6001G>A (p.Gly2001Arg)
n.6253G>A
c.6154G>A (p.Gly2052Arg)
c.5059G>A (p.Gly1687Arg)
c.1243G>A (p.Gly415Arg)
c.796G>A (p.Gly266Arg)
c.133G>A (p.Gly45Arg)
c.4648G>A (p.Gly1550Arg)
n.6171G>A
 COSMIC
5g.13830613A>CCA443252746DNAH5n.976T>G
c.6045T>G (p.Leu2015=)
c.6000T>G (p.Leu2000=)
n.6252T>G
c.6153T>G (p.Leu2051=)
c.5058T>G (p.Leu1686=)
c.1242T>G (p.Leu414=)
c.795T>G (p.Leu265=)
c.132T>G (p.Leu44=)
c.4647T>G (p.Leu1549=)
n.6170T>G
5g.13830613A>GCA443252747DNAH5n.976T>C
c.6045T>C (p.Leu2015=)
c.6000T>C (p.Leu2000=)
n.6252T>C
c.6153T>C (p.Leu2051=)
c.5058T>C (p.Leu1686=)
c.1242T>C (p.Leu414=)
c.795T>C (p.Leu265=)
c.132T>C (p.Leu44=)
c.4647T>C (p.Leu1549=)
n.6170T>C
5g.13830613A>TCA443252748DNAH5n.976T>A
c.6045T>A (p.Leu2015=)
c.6000T>A (p.Leu2000=)
n.6252T>A
c.6153T>A (p.Leu2051=)
c.5058T>A (p.Leu1686=)
c.1242T>A (p.Leu414=)
c.795T>A (p.Leu265=)
c.132T>A (p.Leu44=)
c.4647T>A (p.Leu1549=)
n.6170T>A
5g.13830614A>CCA359202142DNAH5n.975T>G
c.6044T>G (p.Leu2015Arg)
c.5999T>G (p.Leu2000Arg)
n.6251T>G
c.6152T>G (p.Leu2051Arg)
c.5057T>G (p.Leu1686Arg)
c.1241T>G (p.Leu414Arg)
c.794T>G (p.Leu265Arg)
c.131T>G (p.Leu44Arg)
c.4646T>G (p.Leu1549Arg)
n.6169T>G
5g.13830614A>GCA359202143DNAH5n.975T>C
c.6044T>C (p.Leu2015Pro)
c.5999T>C (p.Leu2000Pro)
n.6251T>C
c.6152T>C (p.Leu2051Pro)
c.5057T>C (p.Leu1686Pro)
c.1241T>C (p.Leu414Pro)
c.794T>C (p.Leu265Pro)
c.131T>C (p.Leu44Pro)
c.4646T>C (p.Leu1549Pro)
n.6169T>C
 ClinVar
5g.13830614A>TCA359202144DNAH5n.975T>A
c.6044T>A (p.Leu2015His)
c.5999T>A (p.Leu2000His)
n.6251T>A
c.6152T>A (p.Leu2051His)
c.5057T>A (p.Leu1686His)
c.1241T>A (p.Leu414His)
c.794T>A (p.Leu265His)
c.131T>A (p.Leu44His)
c.4646T>A (p.Leu1549His)
n.6169T>A
5g.13830615delCA2673273814DNAH5n.974del
c.6043del (p.Gly2016AspfsTer?)
c.5998del (p.Gly2001AspfsTer?)
n.6250del
c.6151del (p.Gly2052AspfsTer?)
c.5056del (p.Gly1687AspfsTer?)
c.1240del (p.Gly415AspfsTer?)
c.793del (p.Gly266AspfsTer?)
c.130del (p.Gly45AspfsTer?)
c.4645del (p.Gly1550AspfsTer?)
n.6168del
 gnomAD v4
5g.13830615G>ACA359202145DNAH5n.974C>T
c.6043C>T (p.Leu2015Phe)
c.5998C>T (p.Leu2000Phe)
n.6250C>T
c.6151C>T (p.Leu2051Phe)
c.5056C>T (p.Leu1686Phe)
c.1240C>T (p.Leu414Phe)
c.793C>T (p.Leu265Phe)
c.130C>T (p.Leu44Phe)
c.4645C>T (p.Leu1549Phe)
n.6168C>T
5g.13830615G>CCA359202146DNAH5n.974C>G
c.6043C>G (p.Leu2015Val)
c.5998C>G (p.Leu2000Val)
n.6250C>G
c.6151C>G (p.Leu2051Val)
c.5056C>G (p.Leu1686Val)
c.1240C>G (p.Leu414Val)
c.793C>G (p.Leu265Val)
c.130C>G (p.Leu44Val)
c.4645C>G (p.Leu1549Val)
n.6168C>G
5g.13830615G>TCA359202148DNAH5n.974C>A
c.6043C>A (p.Leu2015Ile)
c.5998C>A (p.Leu2000Ile)
n.6250C>A
c.6151C>A (p.Leu2051Ile)
c.5056C>A (p.Leu1686Ile)
c.1240C>A (p.Leu414Ile)
c.793C>A (p.Leu265Ile)
c.130C>A (p.Leu44Ile)
c.4645C>A (p.Leu1549Ile)
n.6168C>A
5g.13830616T>ACA443252758DNAH5n.973A>T
c.6042A>T (p.Gly2014=)
c.5997A>T (p.Gly1999=)
n.6249A>T
c.6150A>T (p.Gly2050=)
c.5055A>T (p.Gly1685=)
c.1239A>T (p.Gly413=)
c.792A>T (p.Gly264=)
c.129A>T (p.Gly43=)
c.4644A>T (p.Gly1548=)
n.6167A>T
5g.13830616T>CCA443252759DNAH5n.973A>G
c.6042A>G (p.Gly2014=)
c.5997A>G (p.Gly1999=)
n.6249A>G
c.6150A>G (p.Gly2050=)
c.5055A>G (p.Gly1685=)
c.1239A>G (p.Gly413=)
c.792A>G (p.Gly264=)
c.129A>G (p.Gly43=)
c.4644A>G (p.Gly1548=)
n.6167A>G
5g.13830616T>GCA443252762DNAH5n.973A>C
c.6042A>C (p.Gly2014=)
c.5997A>C (p.Gly1999=)
n.6249A>C
c.6150A>C (p.Gly2050=)
c.5055A>C (p.Gly1685=)
c.1239A>C (p.Gly413=)
c.792A>C (p.Gly264=)
c.129A>C (p.Gly43=)
c.4644A>C (p.Gly1548=)
n.6167A>C
 ClinVar gnomAD v4
5g.13830617C>ACA359202158DNAH5n.972G>T
c.6041G>T (p.Gly2014Val)
c.5996G>T (p.Gly1999Val)
n.6248G>T
c.6149G>T (p.Gly2050Val)
c.5054G>T (p.Gly1685Val)
c.1238G>T (p.Gly413Val)
c.791G>T (p.Gly264Val)
c.128G>T (p.Gly43Val)
c.4643G>T (p.Gly1548Val)
n.6166G>T
 COSMIC
5g.13830617C>GCA359202161DNAH5n.972G>C
c.6041G>C (p.Gly2014Ala)
c.5996G>C (p.Gly1999Ala)
n.6248G>C
c.6149G>C (p.Gly2050Ala)
c.5054G>C (p.Gly1685Ala)
c.1238G>C (p.Gly413Ala)
c.791G>C (p.Gly264Ala)
c.128G>C (p.Gly43Ala)
c.4643G>C (p.Gly1548Ala)
n.6166G>C
5g.13830617C>TCA359202163DNAH5n.972G>A
c.6041G>A (p.Gly2014Glu)
c.5996G>A (p.Gly1999Glu)
n.6248G>A
c.6149G>A (p.Gly2050Glu)
c.5054G>A (p.Gly1685Glu)
c.1238G>A (p.Gly413Glu)
c.791G>A (p.Gly264Glu)
c.128G>A (p.Gly43Glu)
c.4643G>A (p.Gly1548Glu)
n.6166G>A
 COSMIC
5g.13830618C>ACA359202167DNAH5n.971G>T
c.6040G>T (p.Gly2014Ter)
c.5995G>T (p.Gly1999Ter)
n.6247G>T
c.6148G>T (p.Gly2050Ter)
c.5053G>T (p.Gly1685Ter)
c.1237G>T (p.Gly413Ter)
c.790G>T (p.Gly264Ter)
c.127G>T (p.Gly43Ter)
c.4642G>T (p.Gly1548Ter)
n.6165G>T
 COSMIC
5g.13830618C=CA1528458745DNAH5n.971G=
c.6040G= (p.Gly2014=)
c.5995G= (p.Gly1999=)
n.6247G=
c.6148G= (p.Gly2050=)
c.5053G= (p.Gly1685=)
c.1237G= (p.Gly413=)
c.790G= (p.Gly264=)
c.127G= (p.Gly43=)
c.4642G= (p.Gly1548=)
n.6165G=
5g.13830618C>GCA3203500DNAH5n.971G>C
c.6040G>C (p.Gly2014Arg)
c.5995G>C (p.Gly1999Arg)
n.6247G>C
c.6148G>C (p.Gly2050Arg)
c.5053G>C (p.Gly1685Arg)
c.1237G>C (p.Gly413Arg)
c.790G>C (p.Gly264Arg)
c.127G>C (p.Gly43Arg)
c.4642G>C (p.Gly1548Arg)
n.6165G>C
 dbSNP ExAC gnomAD v2
5g.13830618C>TCA359202172DNAH5n.971G>A
c.6040G>A (p.Gly2014Arg)
c.5995G>A (p.Gly1999Arg)
n.6247G>A
c.6148G>A (p.Gly2050Arg)
c.5053G>A (p.Gly1685Arg)
c.1237G>A (p.Gly413Arg)
c.790G>A (p.Gly264Arg)
c.127G>A (p.Gly43Arg)
c.4642G>A (p.Gly1548Arg)
n.6165G>A
5g.13830619T>ACA443252770DNAH5n.970A>T
c.6039A>T (p.Arg2013=)
c.5994A>T (p.Arg1998=)
n.6246A>T
c.6147A>T (p.Arg2049=)
c.5052A>T (p.Arg1684=)
c.1236A>T (p.Arg412=)
c.789A>T (p.Arg263=)
c.126A>T (p.Arg42=)
c.4641A>T (p.Arg1547=)
n.6164A>T
5g.13830619T>CCA443252772DNAH5n.970A>G
c.6039A>G (p.Arg2013=)
c.5994A>G (p.Arg1998=)
n.6246A>G
c.6147A>G (p.Arg2049=)
c.5052A>G (p.Arg1684=)
c.1236A>G (p.Arg412=)
c.789A>G (p.Arg263=)
c.126A>G (p.Arg42=)
c.4641A>G (p.Arg1547=)
n.6164A>G
 ClinVar
5g.13830619T>GCA3203501DNAH5n.970A>C
c.6039A>C (p.Arg2013=)
c.5994A>C (p.Arg1998=)
n.6246A>C
c.6147A>C (p.Arg2049=)
c.5052A>C (p.Arg1684=)
c.1236A>C (p.Arg412=)
c.789A>C (p.Arg263=)
c.126A>C (p.Arg42=)
c.4641A>C (p.Arg1547=)
n.6164A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830619T=CA1528458746DNAH5n.970A=
c.6039A= (p.Arg2013=)
c.5994A= (p.Arg1998=)
n.6246A=
c.6147A= (p.Arg2049=)
c.5052A= (p.Arg1684=)
c.1236A= (p.Arg412=)
c.789A= (p.Arg263=)
c.126A= (p.Arg42=)
c.4641A= (p.Arg1547=)
n.6164A=
5g.13830620C>ACA359202178DNAH5n.969G>T
c.6038G>T (p.Arg2013Leu)
c.5993G>T (p.Arg1998Leu)
n.6245G>T
c.6146G>T (p.Arg2049Leu)
c.5051G>T (p.Arg1684Leu)
c.1235G>T (p.Arg412Leu)
c.788G>T (p.Arg263Leu)
c.125G>T (p.Arg42Leu)
c.4640G>T (p.Arg1547Leu)
n.6163G>T
5g.13830620C=CA1528458747DNAH5n.969G=
c.6038G= (p.Arg2013=)
c.5993G= (p.Arg1998=)
n.6245G=
c.6146G= (p.Arg2049=)
c.5051G= (p.Arg1684=)
c.1235G= (p.Arg412=)
c.788G= (p.Arg263=)
c.125G= (p.Arg42=)
c.4640G= (p.Arg1547=)
n.6163G=
5g.13830620C>GCA359202181DNAH5n.969G>C
c.6038G>C (p.Arg2013Pro)
c.5993G>C (p.Arg1998Pro)
n.6245G>C
c.6146G>C (p.Arg2049Pro)
c.5051G>C (p.Arg1684Pro)
c.1235G>C (p.Arg412Pro)
c.788G>C (p.Arg263Pro)
c.125G>C (p.Arg42Pro)
c.4640G>C (p.Arg1547Pro)
n.6163G>C
5g.13830620C>TCA3203502DNAH5n.969G>A
c.6038G>A (p.Arg2013Gln)
c.5993G>A (p.Arg1998Gln)
n.6245G>A
c.6146G>A (p.Arg2049Gln)
c.5051G>A (p.Arg1684Gln)
c.1235G>A (p.Arg412Gln)
c.788G>A (p.Arg263Gln)
c.125G>A (p.Arg42Gln)
c.4640G>A (p.Arg1547Gln)
n.6163G>A
 dbSNP ExAC gnomAD v4 COSMIC
5g.13830621G>ACA359202191DNAH5n.968C>T
c.6037C>T (p.Arg2013Ter)
c.5992C>T (p.Arg1998Ter)
n.6244C>T
c.6145C>T (p.Arg2049Ter)
c.5050C>T (p.Arg1684Ter)
c.1234C>T (p.Arg412Ter)
c.787C>T (p.Arg263Ter)
c.124C>T (p.Arg42Ter)
c.4639C>T (p.Arg1547Ter)
n.6162C>T
 ClinVar dbSNP gnomAD v4
5g.13830621G>CCA359202195DNAH5n.968C>G
c.6037C>G (p.Arg2013Gly)
c.5992C>G (p.Arg1998Gly)
n.6244C>G
c.6145C>G (p.Arg2049Gly)
c.5050C>G (p.Arg1684Gly)
c.1234C>G (p.Arg412Gly)
c.787C>G (p.Arg263Gly)
c.124C>G (p.Arg42Gly)
c.4639C>G (p.Arg1547Gly)
n.6162C>G
5g.13830621G=CA1528458748DNAH5n.968C=
c.6037C= (p.Arg2013=)
c.5992C= (p.Arg1998=)
n.6244C=
c.6145C= (p.Arg2049=)
c.5050C= (p.Arg1684=)
c.1234C= (p.Arg412=)
c.787C= (p.Arg263=)
c.124C= (p.Arg42=)
c.4639C= (p.Arg1547=)
n.6162C=
5g.13830621G>TCA443252779DNAH5n.968C>A
c.6037C>A (p.Arg2013=)
c.5992C>A (p.Arg1998=)
n.6244C>A
c.6145C>A (p.Arg2049=)
c.5050C>A (p.Arg1684=)
c.1234C>A (p.Arg412=)
c.787C>A (p.Arg263=)
c.124C>A (p.Arg42=)
c.4639C>A (p.Arg1547=)
n.6162C>A
5g.13830622G>ACA443252783DNAH5n.967C>T
c.6036C>T (p.Phe2012=)
c.5991C>T (p.Phe1997=)
n.6243C>T
c.6144C>T (p.Phe2048=)
c.5049C>T (p.Phe1683=)
c.1233C>T (p.Phe411=)
c.786C>T (p.Phe262=)
c.123C>T (p.Phe41=)
c.4638C>T (p.Phe1546=)
n.6161C>T
 ClinVar dbSNP COSMIC
5g.13830622G>CCA359202198DNAH5n.967C>G
c.6036C>G (p.Phe2012Leu)
c.5991C>G (p.Phe1997Leu)
n.6243C>G
c.6144C>G (p.Phe2048Leu)
c.5049C>G (p.Phe1683Leu)
c.1233C>G (p.Phe411Leu)
c.786C>G (p.Phe262Leu)
c.123C>G (p.Phe41Leu)
c.4638C>G (p.Phe1546Leu)
n.6161C>G
5g.13830622G>TCA359202201DNAH5n.967C>A
c.6036C>A (p.Phe2012Leu)
c.5991C>A (p.Phe1997Leu)
n.6243C>A
c.6144C>A (p.Phe2048Leu)
c.5049C>A (p.Phe1683Leu)
c.1233C>A (p.Phe411Leu)
c.786C>A (p.Phe262Leu)
c.123C>A (p.Phe41Leu)
c.4638C>A (p.Phe1546Leu)
n.6161C>A
5g.13830623A>CCA359202205DNAH5n.966T>G
c.6035T>G (p.Phe2012Cys)
c.5990T>G (p.Phe1997Cys)
n.6242T>G
c.6143T>G (p.Phe2048Cys)
c.5048T>G (p.Phe1683Cys)
c.1232T>G (p.Phe411Cys)
c.785T>G (p.Phe262Cys)
c.122T>G (p.Phe41Cys)
c.4637T>G (p.Phe1546Cys)
n.6160T>G
5g.13830623A>GCA359202207DNAH5n.966T>C
c.6035T>C (p.Phe2012Ser)
c.5990T>C (p.Phe1997Ser)
n.6242T>C
c.6143T>C (p.Phe2048Ser)
c.5048T>C (p.Phe1683Ser)
c.1232T>C (p.Phe411Ser)
c.785T>C (p.Phe262Ser)
c.122T>C (p.Phe41Ser)
c.4637T>C (p.Phe1546Ser)
n.6160T>C
5g.13830623A>TCA359202215DNAH5n.966T>A
c.6035T>A (p.Phe2012Tyr)
c.5990T>A (p.Phe1997Tyr)
n.6242T>A
c.6143T>A (p.Phe2048Tyr)
c.5048T>A (p.Phe1683Tyr)
c.1232T>A (p.Phe411Tyr)
c.785T>A (p.Phe262Tyr)
c.122T>A (p.Phe41Tyr)
c.4637T>A (p.Phe1546Tyr)
n.6160T>A
5g.13830624A=CA1528458749DNAH5n.965T=
c.6034T= (p.Phe2012=)
c.5989T= (p.Phe1997=)
n.6241T=
c.6142T= (p.Phe2048=)
c.5047T= (p.Phe1683=)
c.1231T= (p.Phe411=)
c.784T= (p.Phe262=)
c.121T= (p.Phe41=)
c.4636T= (p.Phe1546=)
n.6159T=
5g.13830624A>CCA359202219DNAH5n.965T>G
c.6034T>G (p.Phe2012Val)
c.5989T>G (p.Phe1997Val)
n.6241T>G
c.6142T>G (p.Phe2048Val)
c.5047T>G (p.Phe1683Val)
c.1231T>G (p.Phe411Val)
c.784T>G (p.Phe262Val)
c.121T>G (p.Phe41Val)
c.4636T>G (p.Phe1546Val)
n.6159T>G
5g.13830624A>GCA359202220DNAH5n.965T>C
c.6034T>C (p.Phe2012Leu)
c.5989T>C (p.Phe1997Leu)
n.6241T>C
c.6142T>C (p.Phe2048Leu)
c.5047T>C (p.Phe1683Leu)
c.1231T>C (p.Phe411Leu)
c.784T>C (p.Phe262Leu)
c.121T>C (p.Phe41Leu)
c.4636T>C (p.Phe1546Leu)
n.6159T>C
5g.13830624A>TCA359202221DNAH5n.965T>A
c.6034T>A (p.Phe2012Ile)
c.5989T>A (p.Phe1997Ile)
n.6241T>A
c.6142T>A (p.Phe2048Ile)
c.5047T>A (p.Phe1683Ile)
c.1231T>A (p.Phe411Ile)
c.784T>A (p.Phe262Ile)
c.121T>A (p.Phe41Ile)
c.4636T>A (p.Phe1546Ile)
n.6159T>A
 dbSNP
5g.13830625A>CCA359202222DNAH5n.964T>G
c.6033T>G (p.Asp2011Glu)
c.5988T>G (p.Asp1996Glu)
n.6240T>G
c.6141T>G (p.Asp2047Glu)
c.5046T>G (p.Asp1682Glu)
c.1230T>G (p.Asp410Glu)
c.783T>G (p.Asp261Glu)
c.120T>G (p.Asp40Glu)
c.4635T>G (p.Asp1545Glu)
n.6158T>G
5g.13830625A>GCA443252793DNAH5n.964T>C
c.6033T>C (p.Asp2011=)
c.5988T>C (p.Asp1996=)
n.6240T>C
c.6141T>C (p.Asp2047=)
c.5046T>C (p.Asp1682=)
c.1230T>C (p.Asp410=)
c.783T>C (p.Asp261=)
c.120T>C (p.Asp40=)
c.4635T>C (p.Asp1545=)
n.6158T>C
 ClinVar
5g.13830625A>TCA359202223DNAH5n.964T>A
c.6033T>A (p.Asp2011Glu)
c.5988T>A (p.Asp1996Glu)
n.6240T>A
c.6141T>A (p.Asp2047Glu)
c.5046T>A (p.Asp1682Glu)
c.1230T>A (p.Asp410Glu)
c.783T>A (p.Asp261Glu)
c.120T>A (p.Asp40Glu)
c.4635T>A (p.Asp1545Glu)
n.6158T>A
5g.13830626T>ACA359202230DNAH5n.963A>T
c.6032A>T (p.Asp2011Val)
c.5987A>T (p.Asp1996Val)
n.6239A>T
c.6140A>T (p.Asp2047Val)
c.5045A>T (p.Asp1682Val)
c.1229A>T (p.Asp410Val)
c.782A>T (p.Asp261Val)
c.119A>T (p.Asp40Val)
c.4634A>T (p.Asp1545Val)
n.6157A>T
5g.13830626T>CCA359202226DNAH5n.963A>G
c.6032A>G (p.Asp2011Gly)
c.5987A>G (p.Asp1996Gly)
n.6239A>G
c.6140A>G (p.Asp2047Gly)
c.5045A>G (p.Asp1682Gly)
c.1229A>G (p.Asp410Gly)
c.782A>G (p.Asp261Gly)
c.119A>G (p.Asp40Gly)
c.4634A>G (p.Asp1545Gly)
n.6157A>G
5g.13830626T>GCA359202228DNAH5n.963A>C
c.6032A>C (p.Asp2011Ala)
c.5987A>C (p.Asp1996Ala)
n.6239A>C
c.6140A>C (p.Asp2047Ala)
c.5045A>C (p.Asp1682Ala)
c.1229A>C (p.Asp410Ala)
c.782A>C (p.Asp261Ala)
c.119A>C (p.Asp40Ala)
c.4634A>C (p.Asp1545Ala)
n.6157A>C
 dbSNP gnomAD v3 gnomAD v4
5g.13830627C>ACA359202234DNAH5n.962G>T
c.6031G>T (p.Asp2011Tyr)
c.5986G>T (p.Asp1996Tyr)
n.6238G>T
c.6139G>T (p.Asp2047Tyr)
c.5044G>T (p.Asp1682Tyr)
c.1228G>T (p.Asp410Tyr)
c.781G>T (p.Asp261Tyr)
c.118G>T (p.Asp40Tyr)
c.4633G>T (p.Asp1545Tyr)
n.6156G>T
5g.13830627C>GCA359202238DNAH5n.962G>C
c.6031G>C (p.Asp2011His)
c.5986G>C (p.Asp1996His)
n.6238G>C
c.6139G>C (p.Asp2047His)
c.5044G>C (p.Asp1682His)
c.1228G>C (p.Asp410His)
c.781G>C (p.Asp261His)
c.118G>C (p.Asp40His)
c.4633G>C (p.Asp1545His)
n.6156G>C
5g.13830627C>TCA359202251DNAH5n.962G>A
c.6031G>A (p.Asp2011Asn)
c.5986G>A (p.Asp1996Asn)
n.6238G>A
c.6139G>A (p.Asp2047Asn)
c.5044G>A (p.Asp1682Asn)
c.1228G>A (p.Asp410Asn)
c.781G>A (p.Asp261Asn)
c.118G>A (p.Asp40Asn)
c.4633G>A (p.Asp1545Asn)
n.6156G>A
5g.13830628C>ACA359202253DNAH5n.961G>T
c.6030G>T (p.Met2010Ile)
c.5985G>T (p.Met1995Ile)
n.6237G>T
c.6138G>T (p.Met2046Ile)
c.5043G>T (p.Met1681Ile)
c.1227G>T (p.Met409Ile)
c.780G>T (p.Met260Ile)
c.117G>T (p.Met39Ile)
c.4632G>T (p.Met1544Ile)
n.6155G>T
5g.13830628C>GCA359202260DNAH5n.961G>C
c.6030G>C (p.Met2010Ile)
c.5985G>C (p.Met1995Ile)
n.6237G>C
c.6138G>C (p.Met2046Ile)
c.5043G>C (p.Met1681Ile)
c.1227G>C (p.Met409Ile)
c.780G>C (p.Met260Ile)
c.117G>C (p.Met39Ile)
c.4632G>C (p.Met1544Ile)
n.6155G>C
5g.13830628C>TCA359202264DNAH5n.961G>A
c.6030G>A (p.Met2010Ile)
c.5985G>A (p.Met1995Ile)
n.6237G>A
c.6138G>A (p.Met2046Ile)
c.5043G>A (p.Met1681Ile)
c.1227G>A (p.Met409Ile)
c.780G>A (p.Met260Ile)
c.117G>A (p.Met39Ile)
c.4632G>A (p.Met1544Ile)
n.6155G>A
 COSMIC
5g.13830629A=CA1528458750DNAH5n.960T=
c.6029T= (p.Met2010=)
c.5984T= (p.Met1995=)
n.6236T=
c.6137T= (p.Met2046=)
c.5042T= (p.Met1681=)
c.1226T= (p.Met409=)
c.779T= (p.Met260=)
c.116T= (p.Met39=)
c.4631T= (p.Met1544=)
n.6154T=
5g.13830629A>CCA359202266DNAH5n.960T>G
c.6029T>G (p.Met2010Arg)
c.5984T>G (p.Met1995Arg)
n.6236T>G
c.6137T>G (p.Met2046Arg)
c.5042T>G (p.Met1681Arg)
c.1226T>G (p.Met409Arg)
c.779T>G (p.Met260Arg)
c.116T>G (p.Met39Arg)
c.4631T>G (p.Met1544Arg)
n.6154T>G
5g.13830629A>GCA359202268DNAH5n.960T>C
c.6029T>C (p.Met2010Thr)
c.5984T>C (p.Met1995Thr)
n.6236T>C
c.6137T>C (p.Met2046Thr)
c.5042T>C (p.Met1681Thr)
c.1226T>C (p.Met409Thr)
c.779T>C (p.Met260Thr)
c.116T>C (p.Met39Thr)
c.4631T>C (p.Met1544Thr)
n.6154T>C
 dbSNP
5g.13830629A>TCA359202272DNAH5n.960T>A
c.6029T>A (p.Met2010Lys)
c.5984T>A (p.Met1995Lys)
n.6236T>A
c.6137T>A (p.Met2046Lys)
c.5042T>A (p.Met1681Lys)
c.1226T>A (p.Met409Lys)
c.779T>A (p.Met260Lys)
c.116T>A (p.Met39Lys)
c.4631T>A (p.Met1544Lys)
n.6154T>A
5g.13830630T>ACA359202285DNAH5n.959A>T
c.6028A>T (p.Met2010Leu)
c.5983A>T (p.Met1995Leu)
n.6235A>T
c.6136A>T (p.Met2046Leu)
c.5041A>T (p.Met1681Leu)
c.1225A>T (p.Met409Leu)
c.778A>T (p.Met260Leu)
c.115A>T (p.Met39Leu)
c.4630A>T (p.Met1544Leu)
n.6153A>T
5g.13830630T>CCA359202293DNAH5n.959A>G
c.6028A>G (p.Met2010Val)
c.5983A>G (p.Met1995Val)
n.6235A>G
c.6136A>G (p.Met2046Val)
c.5041A>G (p.Met1681Val)
c.1225A>G (p.Met409Val)
c.778A>G (p.Met260Val)
c.115A>G (p.Met39Val)
c.4630A>G (p.Met1544Val)
n.6153A>G
5g.13830630T>GCA3203503DNAH5n.959A>C
c.6028A>C (p.Met2010Leu)
c.5983A>C (p.Met1995Leu)
n.6235A>C
c.6136A>C (p.Met2046Leu)
c.5041A>C (p.Met1681Leu)
c.1225A>C (p.Met409Leu)
c.778A>C (p.Met260Leu)
c.115A>C (p.Met39Leu)
c.4630A>C (p.Met1544Leu)
n.6153A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830630T=CA1528458751DNAH5n.959A=
c.6028A= (p.Met2010=)
c.5983A= (p.Met1995=)
n.6235A=
c.6136A= (p.Met2046=)
c.5041A= (p.Met1681=)
c.1225A= (p.Met409=)
c.778A= (p.Met260=)
c.115A= (p.Met39=)
c.4630A= (p.Met1544=)
n.6153A=
5g.13830631C>ACA359202302DNAH5n.958G>T
c.6027G>T (p.Gln2009His)
c.5982G>T (p.Gln1994His)
n.6234G>T
c.6135G>T (p.Gln2045His)
c.5040G>T (p.Gln1680His)
c.1224G>T (p.Gln408His)
c.777G>T (p.Gln259His)
c.114G>T (p.Gln38His)
c.4629G>T (p.Gln1543His)
n.6152G>T
5g.13830631C=CA1528458752DNAH5n.958G=
c.6027G= (p.Gln2009=)
c.5982G= (p.Gln1994=)
n.6234G=
c.6135G= (p.Gln2045=)
c.5040G= (p.Gln1680=)
c.1224G= (p.Gln408=)
c.777G= (p.Gln259=)
c.114G= (p.Gln38=)
c.4629G= (p.Gln1543=)
n.6152G=
5g.13830631C>GCA3203504DNAH5n.958G>C
c.6027G>C (p.Gln2009His)
c.5982G>C (p.Gln1994His)
n.6234G>C
c.6135G>C (p.Gln2045His)
c.5040G>C (p.Gln1680His)
c.1224G>C (p.Gln408His)
c.777G>C (p.Gln259His)
c.114G>C (p.Gln38His)
c.4629G>C (p.Gln1543His)
n.6152G>C
 dbSNP ExAC gnomAD v2
5g.13830631C>TCA443252820DNAH5n.958G>A
c.6027G>A (p.Gln2009=)
c.5982G>A (p.Gln1994=)
n.6234G>A
c.6135G>A (p.Gln2045=)
c.5040G>A (p.Gln1680=)
c.1224G>A (p.Gln408=)
c.777G>A (p.Gln259=)
c.114G>A (p.Gln38=)
c.4629G>A (p.Gln1543=)
n.6152G>A
5g.13830632T>ACA359202306DNAH5n.957A>T
c.6026A>T (p.Gln2009Leu)
c.5981A>T (p.Gln1994Leu)
n.6233A>T
c.6134A>T (p.Gln2045Leu)
c.5039A>T (p.Gln1680Leu)
c.1223A>T (p.Gln408Leu)
c.776A>T (p.Gln259Leu)
c.113A>T (p.Gln38Leu)
c.4628A>T (p.Gln1543Leu)
n.6151A>T
5g.13830632T>CCA3203505DNAH5n.957A>G
c.6026A>G (p.Gln2009Arg)
c.5981A>G (p.Gln1994Arg)
n.6233A>G
c.6134A>G (p.Gln2045Arg)
c.5039A>G (p.Gln1680Arg)
c.1223A>G (p.Gln408Arg)
c.776A>G (p.Gln259Arg)
c.113A>G (p.Gln38Arg)
c.4628A>G (p.Gln1543Arg)
n.6151A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830632T>GCA359202309DNAH5n.957A>C
c.6026A>C (p.Gln2009Pro)
c.5981A>C (p.Gln1994Pro)
n.6233A>C
c.6134A>C (p.Gln2045Pro)
c.5039A>C (p.Gln1680Pro)
c.1223A>C (p.Gln408Pro)
c.776A>C (p.Gln259Pro)
c.113A>C (p.Gln38Pro)
c.4628A>C (p.Gln1543Pro)
n.6151A>C
5g.13830632T=CA1528458753DNAH5n.957A=
c.6026A= (p.Gln2009=)
c.5981A= (p.Gln1994=)
n.6233A=
c.6134A= (p.Gln2045=)
c.5039A= (p.Gln1680=)
c.1223A= (p.Gln408=)
c.776A= (p.Gln259=)
c.113A= (p.Gln38=)
c.4628A= (p.Gln1543=)
n.6151A=
5g.13830633G>ACA359202312DNAH5n.956C>T
c.6025C>T (p.Gln2009Ter)
c.5980C>T (p.Gln1994Ter)
n.6232C>T
c.6133C>T (p.Gln2045Ter)
c.5038C>T (p.Gln1680Ter)
c.1222C>T (p.Gln408Ter)
c.775C>T (p.Gln259Ter)
c.112C>T (p.Gln38Ter)
c.4627C>T (p.Gln1543Ter)
n.6150C>T
 ClinVar gnomAD v4
5g.13830633G>CCA359202318DNAH5n.956C>G
c.6025C>G (p.Gln2009Glu)
c.5980C>G (p.Gln1994Glu)
n.6232C>G
c.6133C>G (p.Gln2045Glu)
c.5038C>G (p.Gln1680Glu)
c.1222C>G (p.Gln408Glu)
c.775C>G (p.Gln259Glu)
c.112C>G (p.Gln38Glu)
c.4627C>G (p.Gln1543Glu)
n.6150C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13830633G=CA1528458754DNAH5n.956C=
c.6025C= (p.Gln2009=)
c.5980C= (p.Gln1994=)
n.6232C=
c.6133C= (p.Gln2045=)
c.5038C= (p.Gln1680=)
c.1222C= (p.Gln408=)
c.775C= (p.Gln259=)
c.112C= (p.Gln38=)
c.4627C= (p.Gln1543=)
n.6150C=
5g.13830633G>TCA359202323DNAH5n.956C>A
c.6025C>A (p.Gln2009Lys)
c.5980C>A (p.Gln1994Lys)
n.6232C>A
c.6133C>A (p.Gln2045Lys)
c.5038C>A (p.Gln1680Lys)
c.1222C>A (p.Gln408Lys)
c.775C>A (p.Gln259Lys)
c.112C>A (p.Gln38Lys)
c.4627C>A (p.Gln1543Lys)
n.6150C>A
5g.13830634G>ACA443252834DNAH5n.955C>T
c.6024C>T (p.Asp2008=)
c.5979C>T (p.Asp1993=)
n.6231C>T
c.6132C>T (p.Asp2044=)
c.5037C>T (p.Asp1679=)
c.1221C>T (p.Asp407=)
c.774C>T (p.Asp258=)
c.111C>T (p.Asp37=)
c.4626C>T (p.Asp1542=)
n.6149C>T
5g.13830634G>CCA359202326DNAH5n.955C>G
c.6024C>G (p.Asp2008Glu)
c.5979C>G (p.Asp1993Glu)
n.6231C>G
c.6132C>G (p.Asp2044Glu)
c.5037C>G (p.Asp1679Glu)
c.1221C>G (p.Asp407Glu)
c.774C>G (p.Asp258Glu)
c.111C>G (p.Asp37Glu)
c.4626C>G (p.Asp1542Glu)
n.6149C>G
 gnomAD v4
5g.13830634G>TCA359202330DNAH5n.955C>A
c.6024C>A (p.Asp2008Glu)
c.5979C>A (p.Asp1993Glu)
n.6231C>A
c.6132C>A (p.Asp2044Glu)
c.5037C>A (p.Asp1679Glu)
c.1221C>A (p.Asp407Glu)
c.774C>A (p.Asp258Glu)
c.111C>A (p.Asp37Glu)
c.4626C>A (p.Asp1542Glu)
n.6149C>A
5g.13830635T>ACA359202334DNAH5n.954A>T
c.6023A>T (p.Asp2008Val)
c.5978A>T (p.Asp1993Val)
n.6230A>T
c.6131A>T (p.Asp2044Val)
c.5036A>T (p.Asp1679Val)
c.1220A>T (p.Asp407Val)
c.773A>T (p.Asp258Val)
c.110A>T (p.Asp37Val)
c.4625A>T (p.Asp1542Val)
n.6148A>T
5g.13830635T>CCA359202339DNAH5n.954A>G
c.6023A>G (p.Asp2008Gly)
c.5978A>G (p.Asp1993Gly)
n.6230A>G
c.6131A>G (p.Asp2044Gly)
c.5036A>G (p.Asp1679Gly)
c.1220A>G (p.Asp407Gly)
c.773A>G (p.Asp258Gly)
c.110A>G (p.Asp37Gly)
c.4625A>G (p.Asp1542Gly)
n.6148A>G
5g.13830635T>GCA359202340DNAH5n.954A>C
c.6023A>C (p.Asp2008Ala)
c.5978A>C (p.Asp1993Ala)
n.6230A>C
c.6131A>C (p.Asp2044Ala)
c.5036A>C (p.Asp1679Ala)
c.1220A>C (p.Asp407Ala)
c.773A>C (p.Asp258Ala)
c.110A>C (p.Asp37Ala)
c.4625A>C (p.Asp1542Ala)
n.6148A>C
5g.13830636C>ACA359202344DNAH5n.953G>T
c.6022G>T (p.Asp2008Tyr)
c.5977G>T (p.Asp1993Tyr)
n.6229G>T
c.6130G>T (p.Asp2044Tyr)
c.5035G>T (p.Asp1679Tyr)
c.1219G>T (p.Asp407Tyr)
c.772G>T (p.Asp258Tyr)
c.109G>T (p.Asp37Tyr)
c.4624G>T (p.Asp1542Tyr)
n.6147G>T
5g.13830636C>GCA359202345DNAH5n.953G>C
c.6022G>C (p.Asp2008His)
c.5977G>C (p.Asp1993His)
n.6229G>C
c.6130G>C (p.Asp2044His)
c.5035G>C (p.Asp1679His)
c.1219G>C (p.Asp407His)
c.772G>C (p.Asp258His)
c.109G>C (p.Asp37His)
c.4624G>C (p.Asp1542His)
n.6147G>C
5g.13830636C>TCA359202348DNAH5n.953G>A
c.6022G>A (p.Asp2008Asn)
c.5977G>A (p.Asp1993Asn)
n.6229G>A
c.6130G>A (p.Asp2044Asn)
c.5035G>A (p.Asp1679Asn)
c.1219G>A (p.Asp407Asn)
c.772G>A (p.Asp258Asn)
c.109G>A (p.Asp37Asn)
c.4624G>A (p.Asp1542Asn)
n.6147G>A
 gnomAD v4
5g.13830637T>ACA443252842DNAH5n.952A>T
c.6021A>T (p.Ser2007=)
c.5976A>T (p.Ser1992=)
n.6228A>T
c.6129A>T (p.Ser2043=)
c.5034A>T (p.Ser1678=)
c.1218A>T (p.Ser406=)
c.771A>T (p.Ser257=)
c.108A>T (p.Ser36=)
c.4623A>T (p.Ser1541=)
n.6146A>T
5g.13830637T>CCA3203506DNAH5n.952A>G
c.6021A>G (p.Ser2007=)
c.5976A>G (p.Ser1992=)
n.6228A>G
c.6129A>G (p.Ser2043=)
c.5034A>G (p.Ser1678=)
c.1218A>G (p.Ser406=)
c.771A>G (p.Ser257=)
c.108A>G (p.Ser36=)
c.4623A>G (p.Ser1541=)
n.6146A>G
 ClinVar dbSNP ExAC
5g.13830637T>GCA443252843DNAH5n.952A>C
c.6021A>C (p.Ser2007=)
c.5976A>C (p.Ser1992=)
n.6228A>C
c.6129A>C (p.Ser2043=)
c.5034A>C (p.Ser1678=)
c.1218A>C (p.Ser406=)
c.771A>C (p.Ser257=)
c.108A>C (p.Ser36=)
c.4623A>C (p.Ser1541=)
n.6146A>C
5g.13830637T=CA1528458755DNAH5n.952A=
c.6021A= (p.Ser2007=)
c.5976A= (p.Ser1992=)
n.6228A=
c.6129A= (p.Ser2043=)
c.5034A= (p.Ser1678=)
c.1218A= (p.Ser406=)
c.771A= (p.Ser257=)
c.108A= (p.Ser36=)
c.4623A= (p.Ser1541=)
n.6146A=
5g.13830638G>ACA3203507DNAH5n.951C>T
c.6020C>T (p.Ser2007Leu)
c.5975C>T (p.Ser1992Leu)
n.6227C>T
c.6128C>T (p.Ser2043Leu)
c.5033C>T (p.Ser1678Leu)
c.1217C>T (p.Ser406Leu)
c.770C>T (p.Ser257Leu)
c.107C>T (p.Ser36Leu)
c.4622C>T (p.Ser1541Leu)
n.6145C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13830638G>CCA359202367DNAH5n.951C>G
c.6020C>G (p.Ser2007Ter)
c.5975C>G (p.Ser1992Ter)
n.6227C>G
c.6128C>G (p.Ser2043Ter)
c.5033C>G (p.Ser1678Ter)
c.1217C>G (p.Ser406Ter)
c.770C>G (p.Ser257Ter)
c.107C>G (p.Ser36Ter)
c.4622C>G (p.Ser1541Ter)
n.6145C>G
5g.13830638G=CA1528458756DNAH5n.951C=
c.6020C= (p.Ser2007=)
c.5975C= (p.Ser1992=)
n.6227C=
c.6128C= (p.Ser2043=)
c.5033C= (p.Ser1678=)
c.1217C= (p.Ser406=)
c.770C= (p.Ser257=)
c.107C= (p.Ser36=)
c.4622C= (p.Ser1541=)
n.6145C=
5g.13830638G>TCA359202353DNAH5n.951C>A
c.6020C>A (p.Ser2007Ter)
c.5975C>A (p.Ser1992Ter)
n.6227C>A
c.6128C>A (p.Ser2043Ter)
c.5033C>A (p.Ser1678Ter)
c.1217C>A (p.Ser406Ter)
c.770C>A (p.Ser257Ter)
c.107C>A (p.Ser36Ter)
c.4622C>A (p.Ser1541Ter)
n.6145C>A
5g.13830639A>CCA359202371DNAH5n.950T>G
c.6019T>G (p.Ser2007Ala)
c.5974T>G (p.Ser1992Ala)
n.6226T>G
c.6127T>G (p.Ser2043Ala)
c.5032T>G (p.Ser1678Ala)
c.1216T>G (p.Ser406Ala)
c.769T>G (p.Ser257Ala)
c.106T>G (p.Ser36Ala)
c.4621T>G (p.Ser1541Ala)
n.6144T>G
5g.13830639A>GCA359202373DNAH5n.950T>C
c.6019T>C (p.Ser2007Pro)
c.5974T>C (p.Ser1992Pro)
n.6226T>C
c.6127T>C (p.Ser2043Pro)
c.5032T>C (p.Ser1678Pro)
c.1216T>C (p.Ser406Pro)
c.769T>C (p.Ser257Pro)
c.106T>C (p.Ser36Pro)
c.4621T>C (p.Ser1541Pro)
n.6144T>C
5g.13830639A>TCA359202375DNAH5n.950T>A
c.6019T>A (p.Ser2007Thr)
c.5974T>A (p.Ser1992Thr)
n.6226T>A
c.6127T>A (p.Ser2043Thr)
c.5032T>A (p.Ser1678Thr)
c.1216T>A (p.Ser406Thr)
c.769T>A (p.Ser257Thr)
c.106T>A (p.Ser36Thr)
c.4621T>A (p.Ser1541Thr)
n.6144T>A
5g.13830640A=CA1528458757DNAH5n.949T=
c.6018T= (p.Cys2006=)
c.5973T= (p.Cys1991=)
n.6225T=
c.6126T= (p.Cys2042=)
c.5031T= (p.Cys1677=)
c.1215T= (p.Cys405=)
c.768T= (p.Cys256=)
c.105T= (p.Cys35=)
c.4620T= (p.Cys1540=)
n.6143T=
5g.13830640A>CCA359202378DNAH5n.949T>G
c.6018T>G (p.Cys2006Trp)
c.5973T>G (p.Cys1991Trp)
n.6225T>G
c.6126T>G (p.Cys2042Trp)
c.5031T>G (p.Cys1677Trp)
c.1215T>G (p.Cys405Trp)
c.768T>G (p.Cys256Trp)
c.105T>G (p.Cys35Trp)
c.4620T>G (p.Cys1540Trp)
n.6143T>G
5g.13830640A>GCA3203508DNAH5n.949T>C
c.6018T>C (p.Cys2006=)
c.5973T>C (p.Cys1991=)
n.6225T>C
c.6126T>C (p.Cys2042=)
c.5031T>C (p.Cys1677=)
c.1215T>C (p.Cys405=)
c.768T>C (p.Cys256=)
c.105T>C (p.Cys35=)
c.4620T>C (p.Cys1540=)
n.6143T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830640A>TCA359202385DNAH5n.949T>A
c.6018T>A (p.Cys2006Ter)
c.5973T>A (p.Cys1991Ter)
n.6225T>A
c.6126T>A (p.Cys2042Ter)
c.5031T>A (p.Cys1677Ter)
c.1215T>A (p.Cys405Ter)
c.768T>A (p.Cys256Ter)
c.105T>A (p.Cys35Ter)
c.4620T>A (p.Cys1540Ter)
n.6143T>A
5g.13830641C>ACA359202388DNAH5n.948G>T
c.6017G>T (p.Cys2006Phe)
c.5972G>T (p.Cys1991Phe)
n.6224G>T
c.6125G>T (p.Cys2042Phe)
c.5030G>T (p.Cys1677Phe)
c.1214G>T (p.Cys405Phe)
c.767G>T (p.Cys256Phe)
c.104G>T (p.Cys35Phe)
c.4619G>T (p.Cys1540Phe)
n.6142G>T
5g.13830641C>GCA359202390DNAH5n.948G>C
c.6017G>C (p.Cys2006Ser)
c.5972G>C (p.Cys1991Ser)
n.6224G>C
c.6125G>C (p.Cys2042Ser)
c.5030G>C (p.Cys1677Ser)
c.1214G>C (p.Cys405Ser)
c.767G>C (p.Cys256Ser)
c.104G>C (p.Cys35Ser)
c.4619G>C (p.Cys1540Ser)
n.6142G>C
5g.13830641C>TCA359202393DNAH5n.948G>A
c.6017G>A (p.Cys2006Tyr)
c.5972G>A (p.Cys1991Tyr)
n.6224G>A
c.6125G>A (p.Cys2042Tyr)
c.5030G>A (p.Cys1677Tyr)
c.1214G>A (p.Cys405Tyr)
c.767G>A (p.Cys256Tyr)
c.104G>A (p.Cys35Tyr)
c.4619G>A (p.Cys1540Tyr)
n.6142G>A
5g.13830642A=CA1528458758DNAH5n.947T=
c.6016T= (p.Cys2006=)
c.5971T= (p.Cys1991=)
n.6223T=
c.6124T= (p.Cys2042=)
c.5029T= (p.Cys1677=)
c.1213T= (p.Cys405=)
c.766T= (p.Cys256=)
c.103T= (p.Cys35=)
c.4618T= (p.Cys1540=)
n.6141T=
5g.13830642A>CCA359202414DNAH5n.947T>G
c.6016T>G (p.Cys2006Gly)
c.5971T>G (p.Cys1991Gly)
n.6223T>G
c.6124T>G (p.Cys2042Gly)
c.5029T>G (p.Cys1677Gly)
c.1213T>G (p.Cys405Gly)
c.766T>G (p.Cys256Gly)
c.103T>G (p.Cys35Gly)
c.4618T>G (p.Cys1540Gly)
n.6141T>G
5g.13830642A>GCA359202417DNAH5n.947T>C
c.6016T>C (p.Cys2006Arg)
c.5971T>C (p.Cys1991Arg)
n.6223T>C
c.6124T>C (p.Cys2042Arg)
c.5029T>C (p.Cys1677Arg)
c.1213T>C (p.Cys405Arg)
c.766T>C (p.Cys256Arg)
c.103T>C (p.Cys35Arg)
c.4618T>C (p.Cys1540Arg)
n.6141T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13830642A>TCA359202409DNAH5n.947T>A
c.6016T>A (p.Cys2006Ser)
c.5971T>A (p.Cys1991Ser)
n.6223T>A
c.6124T>A (p.Cys2042Ser)
c.5029T>A (p.Cys1677Ser)
c.1213T>A (p.Cys405Ser)
c.766T>A (p.Cys256Ser)
c.103T>A (p.Cys35Ser)
c.4618T>A (p.Cys1540Ser)
n.6141T>A
5g.13830643A=CA1528458759DNAH5n.946T=
c.6015T= (p.Asn2005=)
c.5970T= (p.Asn1990=)
n.6222T=
c.6123T= (p.Asn2041=)
c.5028T= (p.Asn1676=)
c.1212T= (p.Asn404=)
c.765T= (p.Asn255=)
c.102T= (p.Asn34=)
c.4617T= (p.Asn1539=)
n.6140T=
5g.13830643A>CCA359202421DNAH5n.946T>G
c.6015T>G (p.Asn2005Lys)
c.5970T>G (p.Asn1990Lys)
n.6222T>G
c.6123T>G (p.Asn2041Lys)
c.5028T>G (p.Asn1676Lys)
c.1212T>G (p.Asn404Lys)
c.765T>G (p.Asn255Lys)
c.102T>G (p.Asn34Lys)
c.4617T>G (p.Asn1539Lys)
n.6140T>G
5g.13830643A>GCA443252864DNAH5n.946T>C
c.6015T>C (p.Asn2005=)
c.5970T>C (p.Asn1990=)
n.6222T>C
c.6123T>C (p.Asn2041=)
c.5028T>C (p.Asn1676=)
c.1212T>C (p.Asn404=)
c.765T>C (p.Asn255=)
c.102T>C (p.Asn34=)
c.4617T>C (p.Asn1539=)
n.6140T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13830643A>TCA359202425DNAH5n.946T>A
c.6015T>A (p.Asn2005Lys)
c.5970T>A (p.Asn1990Lys)
n.6222T>A
c.6123T>A (p.Asn2041Lys)
c.5028T>A (p.Asn1676Lys)
c.1212T>A (p.Asn404Lys)
c.765T>A (p.Asn255Lys)
c.102T>A (p.Asn34Lys)
c.4617T>A (p.Asn1539Lys)
n.6140T>A
5g.13830644T>ACA359202432DNAH5n.945A>T
c.6014A>T (p.Asn2005Ile)
c.5969A>T (p.Asn1990Ile)
n.6221A>T
c.6122A>T (p.Asn2041Ile)
c.5027A>T (p.Asn1676Ile)
c.1211A>T (p.Asn404Ile)
c.764A>T (p.Asn255Ile)
c.101A>T (p.Asn34Ile)
c.4616A>T (p.Asn1539Ile)
n.6139A>T
5g.13830644T>CCA359202435DNAH5n.945A>G
c.6014A>G (p.Asn2005Ser)
c.5969A>G (p.Asn1990Ser)
n.6221A>G
c.6122A>G (p.Asn2041Ser)
c.5027A>G (p.Asn1676Ser)
c.1211A>G (p.Asn404Ser)
c.764A>G (p.Asn255Ser)
c.101A>G (p.Asn34Ser)
c.4616A>G (p.Asn1539Ser)
n.6139A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13830644T>GCA359202436DNAH5n.945A>C
c.6014A>C (p.Asn2005Thr)
c.5969A>C (p.Asn1990Thr)
n.6221A>C
c.6122A>C (p.Asn2041Thr)
c.5027A>C (p.Asn1676Thr)
c.1211A>C (p.Asn404Thr)
c.764A>C (p.Asn255Thr)
c.101A>C (p.Asn34Thr)
c.4616A>C (p.Asn1539Thr)
n.6139A>C
5g.13830644T=CA1528458760DNAH5n.945A=
c.6014A= (p.Asn2005=)
c.5969A= (p.Asn1990=)
n.6221A=
c.6122A= (p.Asn2041=)
c.5027A= (p.Asn1676=)
c.1211A= (p.Asn404=)
c.764A= (p.Asn255=)
c.101A= (p.Asn34=)
c.4616A= (p.Asn1539=)
n.6139A=
5g.13830645T>ACA359202437DNAH5n.944A>T
c.6013A>T (p.Asn2005Tyr)
c.5968A>T (p.Asn1990Tyr)
n.6220A>T
c.6121A>T (p.Asn2041Tyr)
c.5026A>T (p.Asn1676Tyr)
c.1210A>T (p.Asn404Tyr)
c.763A>T (p.Asn255Tyr)
c.100A>T (p.Asn34Tyr)
c.4615A>T (p.Asn1539Tyr)
n.6138A>T
5g.13830645T>CCA359202438DNAH5n.944A>G
c.6013A>G (p.Asn2005Asp)
c.5968A>G (p.Asn1990Asp)
n.6220A>G
c.6121A>G (p.Asn2041Asp)
c.5026A>G (p.Asn1676Asp)
c.1210A>G (p.Asn404Asp)
c.763A>G (p.Asn255Asp)
c.100A>G (p.Asn34Asp)
c.4615A>G (p.Asn1539Asp)
n.6138A>G
5g.13830645T>GCA359202440DNAH5n.944A>C
c.6013A>C (p.Asn2005His)
c.5968A>C (p.Asn1990His)
n.6220A>C
c.6121A>C (p.Asn2041His)
c.5026A>C (p.Asn1676His)
c.1210A>C (p.Asn404His)
c.763A>C (p.Asn255His)
c.100A>C (p.Asn34His)
c.4615A>C (p.Asn1539His)
n.6138A>C
 gnomAD v4
5g.13830646G>ACA443252877DNAH5n.943C>T
c.6012C>T (p.Phe2004=)
c.5967C>T (p.Phe1989=)
n.6219C>T
c.6120C>T (p.Phe2040=)
c.5025C>T (p.Phe1675=)
c.1209C>T (p.Phe403=)
c.762C>T (p.Phe254=)
c.99C>T (p.Phe33=)
c.4614C>T (p.Phe1538=)
n.6137C>T
 ClinVar dbSNP
5g.13830646G>CCA359202441DNAH5n.943C>G
c.6012C>G (p.Phe2004Leu)
c.5967C>G (p.Phe1989Leu)
n.6219C>G
c.6120C>G (p.Phe2040Leu)
c.5025C>G (p.Phe1675Leu)
c.1209C>G (p.Phe403Leu)
c.762C>G (p.Phe254Leu)
c.99C>G (p.Phe33Leu)
c.4614C>G (p.Phe1538Leu)
n.6137C>G
5g.13830646G=CA1528458761DNAH5n.943C=
c.6012C= (p.Phe2004=)
c.5967C= (p.Phe1989=)
n.6219C=
c.6120C= (p.Phe2040=)
c.5025C= (p.Phe1675=)
c.1209C= (p.Phe403=)
c.762C= (p.Phe254=)
c.99C= (p.Phe33=)
c.4614C= (p.Phe1538=)
n.6137C=
5g.13830646G>TCA359202444DNAH5n.943C>A
c.6012C>A (p.Phe2004Leu)
c.5967C>A (p.Phe1989Leu)
n.6219C>A
c.6120C>A (p.Phe2040Leu)
c.5025C>A (p.Phe1675Leu)
c.1209C>A (p.Phe403Leu)
c.762C>A (p.Phe254Leu)
c.99C>A (p.Phe33Leu)
c.4614C>A (p.Phe1538Leu)
n.6137C>A
5g.13830647A>CCA359202445DNAH5n.942T>G
c.6011T>G (p.Phe2004Cys)
c.5966T>G (p.Phe1989Cys)
n.6218T>G
c.6119T>G (p.Phe2040Cys)
c.5024T>G (p.Phe1675Cys)
c.1208T>G (p.Phe403Cys)
c.761T>G (p.Phe254Cys)
c.98T>G (p.Phe33Cys)
c.4613T>G (p.Phe1538Cys)
n.6136T>G
5g.13830647A>GCA359202449DNAH5n.942T>C
c.6011T>C (p.Phe2004Ser)
c.5966T>C (p.Phe1989Ser)
n.6218T>C
c.6119T>C (p.Phe2040Ser)
c.5024T>C (p.Phe1675Ser)
c.1208T>C (p.Phe403Ser)
c.761T>C (p.Phe254Ser)
c.98T>C (p.Phe33Ser)
c.4613T>C (p.Phe1538Ser)
n.6136T>C
5g.13830647A>TCA359202452DNAH5n.942T>A
c.6011T>A (p.Phe2004Tyr)
c.5966T>A (p.Phe1989Tyr)
n.6218T>A
c.6119T>A (p.Phe2040Tyr)
c.5024T>A (p.Phe1675Tyr)
c.1208T>A (p.Phe403Tyr)
c.761T>A (p.Phe254Tyr)
c.98T>A (p.Phe33Tyr)
c.4613T>A (p.Phe1538Tyr)
n.6136T>A
5g.13830648A>CCA359202460DNAH5n.941T>G
c.6010T>G (p.Phe2004Val)
c.5965T>G (p.Phe1989Val)
n.6217T>G
c.6118T>G (p.Phe2040Val)
c.5023T>G (p.Phe1675Val)
c.1207T>G (p.Phe403Val)
c.760T>G (p.Phe254Val)
c.97T>G (p.Phe33Val)
c.4612T>G (p.Phe1538Val)
n.6135T>G
5g.13830648A>GCA359202456DNAH5n.941T>C
c.6010T>C (p.Phe2004Leu)
c.5965T>C (p.Phe1989Leu)
n.6217T>C
c.6118T>C (p.Phe2040Leu)
c.5023T>C (p.Phe1675Leu)
c.1207T>C (p.Phe403Leu)
c.760T>C (p.Phe254Leu)
c.97T>C (p.Phe33Leu)
c.4612T>C (p.Phe1538Leu)
n.6135T>C
5g.13830648A>TCA359202454DNAH5n.941T>A
c.6010T>A (p.Phe2004Ile)
c.5965T>A (p.Phe1989Ile)
n.6217T>A
c.6118T>A (p.Phe2040Ile)
c.5023T>A (p.Phe1675Ile)
c.1207T>A (p.Phe403Ile)
c.760T>A (p.Phe254Ile)
c.97T>A (p.Phe33Ile)
c.4612T>A (p.Phe1538Ile)
n.6135T>A
5g.13830649A=CA1528458762DNAH5n.940T=
c.6009T= (p.Val2003=)
c.5964T= (p.Val1988=)
n.6216T=
c.6117T= (p.Val2039=)
c.5022T= (p.Val1674=)
c.1206T= (p.Val402=)
c.759T= (p.Val253=)
c.96T= (p.Val32=)
c.4611T= (p.Val1537=)
n.6134T=
5g.13830649A>CCA443252890DNAH5n.940T>G
c.6009T>G (p.Val2003=)
c.5964T>G (p.Val1988=)
n.6216T>G
c.6117T>G (p.Val2039=)
c.5022T>G (p.Val1674=)
c.1206T>G (p.Val402=)
c.759T>G (p.Val253=)
c.96T>G (p.Val32=)
c.4611T>G (p.Val1537=)
n.6134T>G
5g.13830649A>GCA443252892DNAH5n.940T>C
c.6009T>C (p.Val2003=)
c.5964T>C (p.Val1988=)
n.6216T>C
c.6117T>C (p.Val2039=)
c.5022T>C (p.Val1674=)
c.1206T>C (p.Val402=)
c.759T>C (p.Val253=)
c.96T>C (p.Val32=)
c.4611T>C (p.Val1537=)
n.6134T>C
5g.13830649A>TCA443252895DNAH5n.940T>A
c.6009T>A (p.Val2003=)
c.5964T>A (p.Val1988=)
n.6216T>A
c.6117T>A (p.Val2039=)
c.5022T>A (p.Val1674=)
c.1206T>A (p.Val402=)
c.759T>A (p.Val253=)
c.96T>A (p.Val32=)
c.4611T>A (p.Val1537=)
n.6134T>A
 gnomAD v4
5g.13830650A>CCA359202462DNAH5n.939T>G
c.6008T>G (p.Val2003Gly)
c.5963T>G (p.Val1988Gly)
n.6215T>G
c.6116T>G (p.Val2039Gly)
c.5021T>G (p.Val1674Gly)
c.1205T>G (p.Val402Gly)
c.758T>G (p.Val253Gly)
c.95T>G (p.Val32Gly)
c.4610T>G (p.Val1537Gly)
n.6133T>G
5g.13830650A>GCA359202465DNAH5n.939T>C
c.6008T>C (p.Val2003Ala)
c.5963T>C (p.Val1988Ala)
n.6215T>C
c.6116T>C (p.Val2039Ala)
c.5021T>C (p.Val1674Ala)
c.1205T>C (p.Val402Ala)
c.758T>C (p.Val253Ala)
c.95T>C (p.Val32Ala)
c.4610T>C (p.Val1537Ala)
n.6133T>C
5g.13830650A>TCA359202470DNAH5n.939T>A
c.6008T>A (p.Val2003Asp)
c.5963T>A (p.Val1988Asp)
n.6215T>A
c.6116T>A (p.Val2039Asp)
c.5021T>A (p.Val1674Asp)
c.1205T>A (p.Val402Asp)
c.758T>A (p.Val253Asp)
c.95T>A (p.Val32Asp)
c.4610T>A (p.Val1537Asp)
n.6133T>A
5g.13830650_13830657dupCA557876828DNAH5n.932_939dup
c.6001_6008dup (p.Phe2004SerfsTer?)
c.5956_5963dup (p.Phe1989SerfsTer?)
n.6208_6215dup
c.6109_6116dup (p.Phe2040SerfsTer?)
c.5014_5021dup (p.Phe1675SerfsTer?)
c.1198_1205dup (p.Phe403SerfsTer?)
c.751_758dup (p.Phe254SerfsTer?)
c.88_95dup (p.Phe33SerfsTer?)
c.4603_4610dup (p.Phe1538SerfsTer?)
n.6126_6133dup
 dbSNP gnomAD v2 gnomAD v4
5g.13830651C>ACA359202472DNAH5n.938G>T
c.6007G>T (p.Val2003Phe)
c.5962G>T (p.Val1988Phe)
n.6214G>T
c.6115G>T (p.Val2039Phe)
c.5020G>T (p.Val1674Phe)
c.1204G>T (p.Val402Phe)
c.757G>T (p.Val253Phe)
c.94G>T (p.Val32Phe)
c.4609G>T (p.Val1537Phe)
n.6132G>T
 gnomAD v4
5g.13830651C=CA1528458763DNAH5n.938G=
c.6007G= (p.Val2003=)
c.5962G= (p.Val1988=)
n.6214G=
c.6115G= (p.Val2039=)
c.5020G= (p.Val1674=)
c.1204G= (p.Val402=)
c.757G= (p.Val253=)
c.94G= (p.Val32=)
c.4609G= (p.Val1537=)
n.6132G=
5g.13830651C>GCA359202476DNAH5n.938G>C
c.6007G>C (p.Val2003Leu)
c.5962G>C (p.Val1988Leu)
n.6214G>C
c.6115G>C (p.Val2039Leu)
c.5020G>C (p.Val1674Leu)
c.1204G>C (p.Val402Leu)
c.757G>C (p.Val253Leu)
c.94G>C (p.Val32Leu)
c.4609G>C (p.Val1537Leu)
n.6132G>C
5g.13830651C>TCA3203509DNAH5n.938G>A
c.6007G>A (p.Val2003Ile)
c.5962G>A (p.Val1988Ile)
n.6214G>A
c.6115G>A (p.Val2039Ile)
c.5020G>A (p.Val1674Ile)
c.1204G>A (p.Val402Ile)
c.757G>A (p.Val253Ile)
c.94G>A (p.Val32Ile)
c.4609G>A (p.Val1537Ile)
n.6132G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830652C>ACA443252903DNAH5n.937G>T
c.6006G>T (p.Val2002=)
c.5961G>T (p.Val1987=)
n.6213G>T
c.6114G>T (p.Val2038=)
c.5019G>T (p.Val1673=)
c.1203G>T (p.Val401=)
c.756G>T (p.Val252=)
c.93G>T (p.Val31=)
c.4608G>T (p.Val1536=)
n.6131G>T
5g.13830652C=CA1528458764DNAH5n.937G=
c.6006G= (p.Val2002=)
c.5961G= (p.Val1987=)
n.6213G=
c.6114G= (p.Val2038=)
c.5019G= (p.Val1673=)
c.1203G= (p.Val401=)
c.756G= (p.Val252=)
c.93G= (p.Val31=)
c.4608G= (p.Val1536=)
n.6131G=
5g.13830652C>GCA443252908DNAH5n.937G>C
c.6006G>C (p.Val2002=)
c.5961G>C (p.Val1987=)
n.6213G>C
c.6114G>C (p.Val2038=)
c.5019G>C (p.Val1673=)
c.1203G>C (p.Val401=)
c.756G>C (p.Val252=)
c.93G>C (p.Val31=)
c.4608G>C (p.Val1536=)
n.6131G>C
5g.13830652C>TCA443252906DNAH5n.937G>A
c.6006G>A (p.Val2002=)
c.5961G>A (p.Val1987=)
n.6213G>A
c.6114G>A (p.Val2038=)
c.5019G>A (p.Val1673=)
c.1203G>A (p.Val401=)
c.756G>A (p.Val252=)
c.93G>A (p.Val31=)
c.4608G>A (p.Val1536=)
n.6131G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13830653A=CA1528458765DNAH5n.936T=
c.6005T= (p.Val2002=)
c.5960T= (p.Val1987=)
n.6212T=
c.6113T= (p.Val2038=)
c.5018T= (p.Val1673=)
c.1202T= (p.Val401=)
c.755T= (p.Val252=)
c.92T= (p.Val31=)
c.4607T= (p.Val1536=)
n.6130T=
5g.13830653A>CCA359202480DNAH5n.936T>G
c.6005T>G (p.Val2002Gly)
c.5960T>G (p.Val1987Gly)
n.6212T>G
c.6113T>G (p.Val2038Gly)
c.5018T>G (p.Val1673Gly)
c.1202T>G (p.Val401Gly)
c.755T>G (p.Val252Gly)
c.92T>G (p.Val31Gly)
c.4607T>G (p.Val1536Gly)
n.6130T>G
5g.13830653A>GCA359202483DNAH5n.936T>C
c.6005T>C (p.Val2002Ala)
c.5960T>C (p.Val1987Ala)
n.6212T>C
c.6113T>C (p.Val2038Ala)
c.5018T>C (p.Val1673Ala)
c.1202T>C (p.Val401Ala)
c.755T>C (p.Val252Ala)
c.92T>C (p.Val31Ala)
c.4607T>C (p.Val1536Ala)
n.6130T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13830653A>TCA359202499DNAH5n.936T>A
c.6005T>A (p.Val2002Glu)
c.5960T>A (p.Val1987Glu)
n.6212T>A
c.6113T>A (p.Val2038Glu)
c.5018T>A (p.Val1673Glu)
c.1202T>A (p.Val401Glu)
c.755T>A (p.Val252Glu)
c.92T>A (p.Val31Glu)
c.4607T>A (p.Val1536Glu)
n.6130T>A
5g.13830654C>ACA359202504DNAH5n.935G>T
c.6004G>T (p.Val2002Leu)
c.5959G>T (p.Val1987Leu)
n.6211G>T
c.6112G>T (p.Val2038Leu)
c.5017G>T (p.Val1673Leu)
c.1201G>T (p.Val401Leu)
c.754G>T (p.Val252Leu)
c.91G>T (p.Val31Leu)
c.4606G>T (p.Val1536Leu)
n.6129G>T
5g.13830654C=CA1528458766DNAH5n.935G=
c.6004G= (p.Val2002=)
c.5959G= (p.Val1987=)
n.6211G=
c.6112G= (p.Val2038=)
c.5017G= (p.Val1673=)
c.1201G= (p.Val401=)
c.754G= (p.Val252=)
c.91G= (p.Val31=)
c.4606G= (p.Val1536=)
n.6129G=
5g.13830654C>GCA359202509DNAH5n.935G>C
c.6004G>C (p.Val2002Leu)
c.5959G>C (p.Val1987Leu)
n.6211G>C
c.6112G>C (p.Val2038Leu)
c.5017G>C (p.Val1673Leu)
c.1201G>C (p.Val401Leu)
c.754G>C (p.Val252Leu)
c.91G>C (p.Val31Leu)
c.4606G>C (p.Val1536Leu)
n.6129G>C
5g.13830654C>TCA3203510DNAH5n.935G>A
c.6004G>A (p.Val2002Met)
c.5959G>A (p.Val1987Met)
n.6211G>A
c.6112G>A (p.Val2038Met)
c.5017G>A (p.Val1673Met)
c.1201G>A (p.Val401Met)
c.754G>A (p.Val252Met)
c.91G>A (p.Val31Met)
c.4606G>A (p.Val1536Met)
n.6129G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830655G>ACA3203511DNAH5n.934C>T
c.6003C>T (p.Val2001=)
c.5958C>T (p.Val1986=)
n.6210C>T
c.6111C>T (p.Val2037=)
c.5016C>T (p.Val1672=)
c.1200C>T (p.Val400=)
c.753C>T (p.Val251=)
c.90C>T (p.Val30=)
c.4605C>T (p.Val1535=)
n.6128C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830655G>CCA443252918DNAH5n.934C>G
c.6003C>G (p.Val2001=)
c.5958C>G (p.Val1986=)
n.6210C>G
c.6111C>G (p.Val2037=)
c.5016C>G (p.Val1672=)
c.1200C>G (p.Val400=)
c.753C>G (p.Val251=)
c.90C>G (p.Val30=)
c.4605C>G (p.Val1535=)
n.6128C>G
 ClinVar dbSNP
5g.13830655G=CA1528458767DNAH5n.934C=
c.6003C= (p.Val2001=)
c.5958C= (p.Val1986=)
n.6210C=
c.6111C= (p.Val2037=)
c.5016C= (p.Val1672=)
c.1200C= (p.Val400=)
c.753C= (p.Val251=)
c.90C= (p.Val30=)
c.4605C= (p.Val1535=)
n.6128C=
5g.13830655G>TCA443252920DNAH5n.934C>A
c.6003C>A (p.Val2001=)
c.5958C>A (p.Val1986=)
n.6210C>A
c.6111C>A (p.Val2037=)
c.5016C>A (p.Val1672=)
c.1200C>A (p.Val400=)
c.753C>A (p.Val251=)
c.90C>A (p.Val30=)
c.4605C>A (p.Val1535=)
n.6128C>A
5g.13830656A>CCA359202522DNAH5n.933T>G
c.6002T>G (p.Val2001Gly)
c.5957T>G (p.Val1986Gly)
n.6209T>G
c.6110T>G (p.Val2037Gly)
c.5015T>G (p.Val1672Gly)
c.1199T>G (p.Val400Gly)
c.752T>G (p.Val251Gly)
c.89T>G (p.Val30Gly)
c.4604T>G (p.Val1535Gly)
n.6127T>G
5g.13830656A>GCA359202523DNAH5n.933T>C
c.6002T>C (p.Val2001Ala)
c.5957T>C (p.Val1986Ala)
n.6209T>C
c.6110T>C (p.Val2037Ala)
c.5015T>C (p.Val1672Ala)
c.1199T>C (p.Val400Ala)
c.752T>C (p.Val251Ala)
c.89T>C (p.Val30Ala)
c.4604T>C (p.Val1535Ala)
n.6127T>C
5g.13830656A>TCA359202521DNAH5n.933T>A
c.6002T>A (p.Val2001Asp)
c.5957T>A (p.Val1986Asp)
n.6209T>A
c.6110T>A (p.Val2037Asp)
c.5015T>A (p.Val1672Asp)
c.1199T>A (p.Val400Asp)
c.752T>A (p.Val251Asp)
c.89T>A (p.Val30Asp)
c.4604T>A (p.Val1535Asp)
n.6127T>A
5g.13830657C>ACA359202525DNAH5n.932G>T
c.6001G>T (p.Val2001Phe)
c.5956G>T (p.Val1986Phe)
n.6208G>T
c.6109G>T (p.Val2037Phe)
c.5014G>T (p.Val1672Phe)
c.1198G>T (p.Val400Phe)
c.751G>T (p.Val251Phe)
c.88G>T (p.Val30Phe)
c.4603G>T (p.Val1535Phe)
n.6126G>T
 ClinVar
5g.13830657C=CA1528458768DNAH5n.932G=
c.6001G= (p.Val2001=)
c.5956G= (p.Val1986=)
n.6208G=
c.6109G= (p.Val2037=)
c.5014G= (p.Val1672=)
c.1198G= (p.Val400=)
c.751G= (p.Val251=)
c.88G= (p.Val30=)
c.4603G= (p.Val1535=)
n.6126G=
5g.13830657C>GCA359202528DNAH5n.932G>C
c.6001G>C (p.Val2001Leu)
c.5956G>C (p.Val1986Leu)
n.6208G>C
c.6109G>C (p.Val2037Leu)
c.5014G>C (p.Val1672Leu)
c.1198G>C (p.Val400Leu)
c.751G>C (p.Val251Leu)
c.88G>C (p.Val30Leu)
c.4603G>C (p.Val1535Leu)
n.6126G>C
 gnomAD v4
5g.13830657C>TCA3203512DNAH5n.932G>A
c.6001G>A (p.Val2001Ile)
c.5956G>A (p.Val1986Ile)
n.6208G>A
c.6109G>A (p.Val2037Ile)
c.5014G>A (p.Val1672Ile)
c.1198G>A (p.Val400Ile)
c.751G>A (p.Val251Ile)
c.88G>A (p.Val30Ile)
c.4603G>A (p.Val1535Ile)
n.6126G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830658G>ACA3203513DNAH5n.931C>T
c.6000C>T (p.Tyr2000=)
c.5955C>T (p.Tyr1985=)
n.6207C>T
c.6108C>T (p.Tyr2036=)
c.5013C>T (p.Tyr1671=)
c.1197C>T (p.Tyr399=)
c.750C>T (p.Tyr250=)
c.87C>T (p.Tyr29=)
c.4602C>T (p.Tyr1534=)
n.6125C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830658G>CCA359202542DNAH5n.931C>G
c.6000C>G (p.Tyr2000Ter)
c.5955C>G (p.Tyr1985Ter)
n.6207C>G
c.6108C>G (p.Tyr2036Ter)
c.5013C>G (p.Tyr1671Ter)
c.1197C>G (p.Tyr399Ter)
c.750C>G (p.Tyr250Ter)
c.87C>G (p.Tyr29Ter)
c.4602C>G (p.Tyr1534Ter)
n.6125C>G
5g.13830658G=CA1528458769DNAH5n.931C=
c.6000C= (p.Tyr2000=)
c.5955C= (p.Tyr1985=)
n.6207C=
c.6108C= (p.Tyr2036=)
c.5013C= (p.Tyr1671=)
c.1197C= (p.Tyr399=)
c.750C= (p.Tyr250=)
c.87C= (p.Tyr29=)
c.4602C= (p.Tyr1534=)
n.6125C=
5g.13830658G>TCA359202544DNAH5n.931C>A
c.6000C>A (p.Tyr2000Ter)
c.5955C>A (p.Tyr1985Ter)
n.6207C>A
c.6108C>A (p.Tyr2036Ter)
c.5013C>A (p.Tyr1671Ter)
c.1197C>A (p.Tyr399Ter)
c.750C>A (p.Tyr250Ter)
c.87C>A (p.Tyr29Ter)
c.4602C>A (p.Tyr1534Ter)
n.6125C>A
 ClinVar dbSNP
5g.13830659T>ACA359202556DNAH5n.930A>T
c.5999A>T (p.Tyr2000Phe)
c.5954A>T (p.Tyr1985Phe)
n.6206A>T
c.6107A>T (p.Tyr2036Phe)
c.5012A>T (p.Tyr1671Phe)
c.1196A>T (p.Tyr399Phe)
c.749A>T (p.Tyr250Phe)
c.86A>T (p.Tyr29Phe)
c.4601A>T (p.Tyr1534Phe)
n.6124A>T
5g.13830659T>CCA359202549DNAH5n.930A>G
c.5999A>G (p.Tyr2000Cys)
c.5954A>G (p.Tyr1985Cys)
n.6206A>G
c.6107A>G (p.Tyr2036Cys)
c.5012A>G (p.Tyr1671Cys)
c.1196A>G (p.Tyr399Cys)
c.749A>G (p.Tyr250Cys)
c.86A>G (p.Tyr29Cys)
c.4601A>G (p.Tyr1534Cys)
n.6124A>G
5g.13830659T>GCA359202554DNAH5n.930A>C
c.5999A>C (p.Tyr2000Ser)
c.5954A>C (p.Tyr1985Ser)
n.6206A>C
c.6107A>C (p.Tyr2036Ser)
c.5012A>C (p.Tyr1671Ser)
c.1196A>C (p.Tyr399Ser)
c.749A>C (p.Tyr250Ser)
c.86A>C (p.Tyr29Ser)
c.4601A>C (p.Tyr1534Ser)
n.6124A>C
5g.13830659dupCA804510871DNAH5n.930dup
c.5999dup (p.Tyr2000Ter)
c.5954dup (p.Tyr1985Ter)
n.6206dup
c.6107dup (p.Tyr2036Ter)
c.5012dup (p.Tyr1671Ter)
c.1196dup (p.Tyr399Ter)
c.749dup (p.Tyr250Ter)
c.86dup (p.Tyr29Ter)
c.4601dup (p.Tyr1534Ter)
n.6124dup
 ClinVar dbSNP
5g.13830660A>CCA359202558DNAH5n.929T>G
c.5998T>G (p.Tyr2000Asp)
c.5953T>G (p.Tyr1985Asp)
n.6205T>G
c.6106T>G (p.Tyr2036Asp)
c.5011T>G (p.Tyr1671Asp)
c.1195T>G (p.Tyr399Asp)
c.748T>G (p.Tyr250Asp)
c.85T>G (p.Tyr29Asp)
c.4600T>G (p.Tyr1534Asp)
n.6123T>G
 gnomAD v4
5g.13830660A>GCA359202559DNAH5n.929T>C
c.5998T>C (p.Tyr2000His)
c.5953T>C (p.Tyr1985His)
n.6205T>C
c.6106T>C (p.Tyr2036His)
c.5011T>C (p.Tyr1671His)
c.1195T>C (p.Tyr399His)
c.748T>C (p.Tyr250His)
c.85T>C (p.Tyr29His)
c.4600T>C (p.Tyr1534His)
n.6123T>C
5g.13830660A>TCA359202561DNAH5n.929T>A
c.5998T>A (p.Tyr2000Asn)
c.5953T>A (p.Tyr1985Asn)
n.6205T>A
c.6106T>A (p.Tyr2036Asn)
c.5011T>A (p.Tyr1671Asn)
c.1195T>A (p.Tyr399Asn)
c.748T>A (p.Tyr250Asn)
c.85T>A (p.Tyr29Asn)
c.4600T>A (p.Tyr1534Asn)
n.6123T>A
5g.13830662_13830673delCA2580072048DNAH5n.918_929del
c.5987_5998del (p.Cys1996_Lys1999del)
c.5942_5953del (p.Cys1981_Lys1984del)
n.6194_6205del
c.6095_6106del (p.Cys2032_Lys2035del)
c.5000_5011del (p.Cys1667_Lys1670del)
c.1184_1195del (p.Cys395_Lys398del)
c.737_748del (p.Cys246_Lys249del)
c.74_85del (p.Cys25_Lys28del)
c.4589_4600del (p.Cys1530_Lys1533del)
n.6112_6123del
 ClinVar
5g.13830661T>ACA359202564DNAH5n.928A>T
c.5997A>T (p.Lys1999Asn)
c.5952A>T (p.Lys1984Asn)
n.6204A>T
c.6105A>T (p.Lys2035Asn)
c.5010A>T (p.Lys1670Asn)
c.1194A>T (p.Lys398Asn)
c.747A>T (p.Lys249Asn)
c.84A>T (p.Lys28Asn)
c.4599A>T (p.Lys1533Asn)
n.6122A>T
 dbSNP
5g.13830661T>CCA443252945DNAH5n.928A>G
c.5997A>G (p.Lys1999=)
c.5952A>G (p.Lys1984=)
n.6204A>G
c.6105A>G (p.Lys2035=)
c.5010A>G (p.Lys1670=)
c.1194A>G (p.Lys398=)
c.747A>G (p.Lys249=)
c.84A>G (p.Lys28=)
c.4599A>G (p.Lys1533=)
n.6122A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13830661T>GCA359202566DNAH5n.928A>C
c.5997A>C (p.Lys1999Asn)
c.5952A>C (p.Lys1984Asn)
n.6204A>C
c.6105A>C (p.Lys2035Asn)
c.5010A>C (p.Lys1670Asn)
c.1194A>C (p.Lys398Asn)
c.747A>C (p.Lys249Asn)
c.84A>C (p.Lys28Asn)
c.4599A>C (p.Lys1533Asn)
n.6122A>C
5g.13830661T=CA1528458770DNAH5n.928A=
c.5997A= (p.Lys1999=)
c.5952A= (p.Lys1984=)
n.6204A=
c.6105A= (p.Lys2035=)
c.5010A= (p.Lys1670=)
c.1194A= (p.Lys398=)
c.747A= (p.Lys249=)
c.84A= (p.Lys28=)
c.4599A= (p.Lys1533=)
n.6122A=
5g.13830662T>ACA359202576DNAH5n.927A>T
c.5996A>T (p.Lys1999Ile)
c.5951A>T (p.Lys1984Ile)
n.6203A>T
c.6104A>T (p.Lys2035Ile)
c.5009A>T (p.Lys1670Ile)
c.1193A>T (p.Lys398Ile)
c.746A>T (p.Lys249Ile)
c.83A>T (p.Lys28Ile)
c.4598A>T (p.Lys1533Ile)
n.6121A>T
5g.13830662T>CCA359202569DNAH5n.927A>G
c.5996A>G (p.Lys1999Arg)
c.5951A>G (p.Lys1984Arg)
n.6203A>G
c.6104A>G (p.Lys2035Arg)
c.5009A>G (p.Lys1670Arg)
c.1193A>G (p.Lys398Arg)
c.746A>G (p.Lys249Arg)
c.83A>G (p.Lys28Arg)
c.4598A>G (p.Lys1533Arg)
n.6121A>G
 dbSNP
5g.13830662T>GCA359202572DNAH5n.927A>C
c.5996A>C (p.Lys1999Thr)
c.5951A>C (p.Lys1984Thr)
n.6203A>C
c.6104A>C (p.Lys2035Thr)
c.5009A>C (p.Lys1670Thr)
c.1193A>C (p.Lys398Thr)
c.746A>C (p.Lys249Thr)
c.83A>C (p.Lys28Thr)
c.4598A>C (p.Lys1533Thr)
n.6121A>C
5g.13830662T=CA1528458771DNAH5n.927A=
c.5996A= (p.Lys1999=)
c.5951A= (p.Lys1984=)
n.6203A=
c.6104A= (p.Lys2035=)
c.5009A= (p.Lys1670=)
c.1193A= (p.Lys398=)
c.746A= (p.Lys249=)
c.83A= (p.Lys28=)
c.4598A= (p.Lys1533=)
n.6121A=
5g.13830663T>ACA359202578DNAH5n.926A>T
c.5995A>T (p.Lys1999Ter)
c.5950A>T (p.Lys1984Ter)
n.6202A>T
c.6103A>T (p.Lys2035Ter)
c.5008A>T (p.Lys1670Ter)
c.1192A>T (p.Lys398Ter)
c.745A>T (p.Lys249Ter)
c.82A>T (p.Lys28Ter)
c.4597A>T (p.Lys1533Ter)
n.6120A>T
5g.13830663T>CCA359202581DNAH5n.926A>G
c.5995A>G (p.Lys1999Glu)
c.5950A>G (p.Lys1984Glu)
n.6202A>G
c.6103A>G (p.Lys2035Glu)
c.5008A>G (p.Lys1670Glu)
c.1192A>G (p.Lys398Glu)
c.745A>G (p.Lys249Glu)
c.82A>G (p.Lys28Glu)
c.4597A>G (p.Lys1533Glu)
n.6120A>G
5g.13830663T>GCA359202583DNAH5n.926A>C
c.5995A>C (p.Lys1999Gln)
c.5950A>C (p.Lys1984Gln)
n.6202A>C
c.6103A>C (p.Lys2035Gln)
c.5008A>C (p.Lys1670Gln)
c.1192A>C (p.Lys398Gln)
c.745A>C (p.Lys249Gln)
c.82A>C (p.Lys28Gln)
c.4597A>C (p.Lys1533Gln)
n.6120A>C
5g.13830664C>ACA443252953DNAH5n.925G>T
c.5994G>T (p.Gly1998=)
c.5949G>T (p.Gly1983=)
n.6201G>T
c.6102G>T (p.Gly2034=)
c.5007G>T (p.Gly1669=)
c.1191G>T (p.Gly397=)
c.744G>T (p.Gly248=)
c.81G>T (p.Gly27=)
c.4596G>T (p.Gly1532=)
n.6119G>T
5g.13830664C=CA1528458772DNAH5n.925G=
c.5994G= (p.Gly1998=)
c.5949G= (p.Gly1983=)
n.6201G=
c.6102G= (p.Gly2034=)
c.5007G= (p.Gly1669=)
c.1191G= (p.Gly397=)
c.744G= (p.Gly248=)
c.81G= (p.Gly27=)
c.4596G= (p.Gly1532=)
n.6119G=
5g.13830664C>GCA443252957DNAH5n.925G>C
c.5994G>C (p.Gly1998=)
c.5949G>C (p.Gly1983=)
n.6201G>C
c.6102G>C (p.Gly2034=)
c.5007G>C (p.Gly1669=)
c.1191G>C (p.Gly397=)
c.744G>C (p.Gly248=)
c.81G>C (p.Gly27=)
c.4596G>C (p.Gly1532=)
n.6119G>C
 ClinVar dbSNP gnomAD v4
5g.13830664C>TCA443252955DNAH5n.925G>A
c.5994G>A (p.Gly1998=)
c.5949G>A (p.Gly1983=)
n.6201G>A
c.6102G>A (p.Gly2034=)
c.5007G>A (p.Gly1669=)
c.1191G>A (p.Gly397=)
c.744G>A (p.Gly248=)
c.81G>A (p.Gly27=)
c.4596G>A (p.Gly1532=)
n.6119G>A
 gnomAD v4 COSMIC
5g.13830665C>ACA359202585DNAH5n.924G>T
c.5993G>T (p.Gly1998Val)
c.5948G>T (p.Gly1983Val)
n.6200G>T
c.6101G>T (p.Gly2034Val)
c.5006G>T (p.Gly1669Val)
c.1190G>T (p.Gly397Val)
c.743G>T (p.Gly248Val)
c.80G>T (p.Gly27Val)
c.4595G>T (p.Gly1532Val)
n.6118G>T
5g.13830665C>GCA359202587DNAH5n.924G>C
c.5993G>C (p.Gly1998Ala)
c.5948G>C (p.Gly1983Ala)
n.6200G>C
c.6101G>C (p.Gly2034Ala)
c.5006G>C (p.Gly1669Ala)
c.1190G>C (p.Gly397Ala)
c.743G>C (p.Gly248Ala)
c.80G>C (p.Gly27Ala)
c.4595G>C (p.Gly1532Ala)
n.6118G>C
5g.13830665C>TCA359202589DNAH5n.924G>A
c.5993G>A (p.Gly1998Glu)
c.5948G>A (p.Gly1983Glu)
n.6200G>A
c.6101G>A (p.Gly2034Glu)
c.5006G>A (p.Gly1669Glu)
c.1190G>A (p.Gly397Glu)
c.743G>A (p.Gly248Glu)
c.80G>A (p.Gly27Glu)
c.4595G>A (p.Gly1532Glu)
n.6118G>A
 gnomAD v4 COSMIC
5g.13830666C>ACA359202592DNAH5n.923G>T
c.5992G>T (p.Gly1998Trp)
c.5947G>T (p.Gly1983Trp)
n.6199G>T
c.6100G>T (p.Gly2034Trp)
c.5005G>T (p.Gly1669Trp)
c.1189G>T (p.Gly397Trp)
c.742G>T (p.Gly248Trp)
c.79G>T (p.Gly27Trp)
c.4594G>T (p.Gly1532Trp)
n.6117G>T
5g.13830666C=CA1528458773DNAH5n.923G=
c.5992G= (p.Gly1998=)
c.5947G= (p.Gly1983=)
n.6199G=
c.6100G= (p.Gly2034=)
c.5005G= (p.Gly1669=)
c.1189G= (p.Gly397=)
c.742G= (p.Gly248=)
c.79G= (p.Gly27=)
c.4594G= (p.Gly1532=)
n.6117G=
5g.13830666C>GCA359202595DNAH5n.923G>C
c.5992G>C (p.Gly1998Arg)
c.5947G>C (p.Gly1983Arg)
n.6199G>C
c.6100G>C (p.Gly2034Arg)
c.5005G>C (p.Gly1669Arg)
c.1189G>C (p.Gly397Arg)
c.742G>C (p.Gly248Arg)
c.79G>C (p.Gly27Arg)
c.4594G>C (p.Gly1532Arg)
n.6117G>C
5g.13830666C>TCA359202599DNAH5n.923G>A
c.5992G>A (p.Gly1998Arg)
c.5947G>A (p.Gly1983Arg)
n.6199G>A
c.6100G>A (p.Gly2034Arg)
c.5005G>A (p.Gly1669Arg)
c.1189G>A (p.Gly397Arg)
c.742G>A (p.Gly248Arg)
c.79G>A (p.Gly27Arg)
c.4594G>A (p.Gly1532Arg)
n.6117G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13830667G>ACA3203514DNAH5n.922C>T
c.5991C>T (p.Leu1997=)
c.5946C>T (p.Leu1982=)
n.6198C>T
c.6099C>T (p.Leu2033=)
c.5004C>T (p.Leu1668=)
c.1188C>T (p.Leu396=)
c.741C>T (p.Leu247=)
c.78C>T (p.Leu26=)
c.4593C>T (p.Leu1531=)
n.6116C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830667G>CCA443252966DNAH5n.922C>G
c.5991C>G (p.Leu1997=)
c.5946C>G (p.Leu1982=)
n.6198C>G
c.6099C>G (p.Leu2033=)
c.5004C>G (p.Leu1668=)
c.1188C>G (p.Leu396=)
c.741C>G (p.Leu247=)
c.78C>G (p.Leu26=)
c.4593C>G (p.Leu1531=)
n.6116C>G
 gnomAD v4
5g.13830667G=CA1528458774DNAH5n.922C=
c.5991C= (p.Leu1997=)
c.5946C= (p.Leu1982=)
n.6198C=
c.6099C= (p.Leu2033=)
c.5004C= (p.Leu1668=)
c.1188C= (p.Leu396=)
c.741C= (p.Leu247=)
c.78C= (p.Leu26=)
c.4593C= (p.Leu1531=)
n.6116C=
5g.13830667G>TCA443252968DNAH5n.922C>A
c.5991C>A (p.Leu1997=)
c.5946C>A (p.Leu1982=)
n.6198C>A
c.6099C>A (p.Leu2033=)
c.5004C>A (p.Leu1668=)
c.1188C>A (p.Leu396=)
c.741C>A (p.Leu247=)
c.78C>A (p.Leu26=)
c.4593C>A (p.Leu1531=)
n.6116C>A
5g.13830668A>CCA359202608DNAH5n.921T>G
c.5990T>G (p.Leu1997Arg)
c.5945T>G (p.Leu1982Arg)
n.6197T>G
c.6098T>G (p.Leu2033Arg)
c.5003T>G (p.Leu1668Arg)
c.1187T>G (p.Leu396Arg)
c.740T>G (p.Leu247Arg)
c.77T>G (p.Leu26Arg)
c.4592T>G (p.Leu1531Arg)
n.6115T>G
5g.13830668A>GCA359202610DNAH5n.921T>C
c.5990T>C (p.Leu1997Pro)
c.5945T>C (p.Leu1982Pro)
n.6197T>C
c.6098T>C (p.Leu2033Pro)
c.5003T>C (p.Leu1668Pro)
c.1187T>C (p.Leu396Pro)
c.740T>C (p.Leu247Pro)
c.77T>C (p.Leu26Pro)
c.4592T>C (p.Leu1531Pro)
n.6115T>C
5g.13830668A>TCA359202614DNAH5n.921T>A
c.5990T>A (p.Leu1997His)
c.5945T>A (p.Leu1982His)
n.6197T>A
c.6098T>A (p.Leu2033His)
c.5003T>A (p.Leu1668His)
c.1187T>A (p.Leu396His)
c.740T>A (p.Leu247His)
c.77T>A (p.Leu26His)
c.4592T>A (p.Leu1531His)
n.6115T>A
5g.13830669G>ACA359202621DNAH5n.920C>T
c.5989C>T (p.Leu1997Phe)
c.5944C>T (p.Leu1982Phe)
n.6196C>T
c.6097C>T (p.Leu2033Phe)
c.5002C>T (p.Leu1668Phe)
c.1186C>T (p.Leu396Phe)
c.739C>T (p.Leu247Phe)
c.76C>T (p.Leu26Phe)
c.4591C>T (p.Leu1531Phe)
n.6114C>T
 ClinVar
5g.13830669G>CCA359202617DNAH5n.920C>G
c.5989C>G (p.Leu1997Val)
c.5944C>G (p.Leu1982Val)
n.6196C>G
c.6097C>G (p.Leu2033Val)
c.5002C>G (p.Leu1668Val)
c.1186C>G (p.Leu396Val)
c.739C>G (p.Leu247Val)
c.76C>G (p.Leu26Val)
c.4591C>G (p.Leu1531Val)
n.6114C>G
 gnomAD v4
5g.13830669G>TCA359202619DNAH5n.920C>A
c.5989C>A (p.Leu1997Ile)
c.5944C>A (p.Leu1982Ile)
n.6196C>A
c.6097C>A (p.Leu2033Ile)
c.5002C>A (p.Leu1668Ile)
c.1186C>A (p.Leu396Ile)
c.739C>A (p.Leu247Ile)
c.76C>A (p.Leu26Ile)
c.4591C>A (p.Leu1531Ile)
n.6114C>A
5g.13830670G>ACA443252978DNAH5n.919C>T
c.5988C>T (p.Cys1996=)
c.5943C>T (p.Cys1981=)
n.6195C>T
c.6096C>T (p.Cys2032=)
c.5001C>T (p.Cys1667=)
c.1185C>T (p.Cys395=)
c.738C>T (p.Cys246=)
c.75C>T (p.Cys25=)
c.4590C>T (p.Cys1530=)
n.6113C>T
5g.13830670G>CCA359202624DNAH5n.919C>G
c.5988C>G (p.Cys1996Trp)
c.5943C>G (p.Cys1981Trp)
n.6195C>G
c.6096C>G (p.Cys2032Trp)
c.5001C>G (p.Cys1667Trp)
c.1185C>G (p.Cys395Trp)
c.738C>G (p.Cys246Trp)
c.75C>G (p.Cys25Trp)
c.4590C>G (p.Cys1530Trp)
n.6113C>G
5g.13830670G>TCA359202625DNAH5n.919C>A
c.5988C>A (p.Cys1996Ter)
c.5943C>A (p.Cys1981Ter)
n.6195C>A
c.6096C>A (p.Cys2032Ter)
c.5001C>A (p.Cys1667Ter)
c.1185C>A (p.Cys395Ter)
c.738C>A (p.Cys246Ter)
c.75C>A (p.Cys25Ter)
c.4590C>A (p.Cys1530Ter)
n.6113C>A
5g.13830671C>ACA359202629DNAH5n.918G>T
c.5987G>T (p.Cys1996Phe)
c.5942G>T (p.Cys1981Phe)
n.6194G>T
c.6095G>T (p.Cys2032Phe)
c.5000G>T (p.Cys1667Phe)
c.1184G>T (p.Cys395Phe)
c.737G>T (p.Cys246Phe)
c.74G>T (p.Cys25Phe)
c.4589G>T (p.Cys1530Phe)
n.6112G>T
 gnomAD v4
5g.13830671C>GCA359202633DNAH5n.918G>C
c.5987G>C (p.Cys1996Ser)
c.5942G>C (p.Cys1981Ser)
n.6194G>C
c.6095G>C (p.Cys2032Ser)
c.5000G>C (p.Cys1667Ser)
c.1184G>C (p.Cys395Ser)
c.737G>C (p.Cys246Ser)
c.74G>C (p.Cys25Ser)
c.4589G>C (p.Cys1530Ser)
n.6112G>C
5g.13830671C>TCA359202635DNAH5n.918G>A
c.5987G>A (p.Cys1996Tyr)
c.5942G>A (p.Cys1981Tyr)
n.6194G>A
c.6095G>A (p.Cys2032Tyr)
c.5000G>A (p.Cys1667Tyr)
c.1184G>A (p.Cys395Tyr)
c.737G>A (p.Cys246Tyr)
c.74G>A (p.Cys25Tyr)
c.4589G>A (p.Cys1530Tyr)
n.6112G>A
5g.13830672A=CA1528458775DNAH5n.917T=
c.5986T= (p.Cys1996=)
c.5941T= (p.Cys1981=)
n.6193T=
c.6094T= (p.Cys2032=)
c.4999T= (p.Cys1667=)
c.1183T= (p.Cys395=)
c.736T= (p.Cys246=)
c.73T= (p.Cys25=)
c.4588T= (p.Cys1530=)
n.6111T=
5g.13830672A>CCA359202636DNAH5n.917T>G
c.5986T>G (p.Cys1996Gly)
c.5941T>G (p.Cys1981Gly)
n.6193T>G
c.6094T>G (p.Cys2032Gly)
c.4999T>G (p.Cys1667Gly)
c.1183T>G (p.Cys395Gly)
c.736T>G (p.Cys246Gly)
c.73T>G (p.Cys25Gly)
c.4588T>G (p.Cys1530Gly)
n.6111T>G
5g.13830672A>GCA3203515DNAH5n.917T>C
c.5986T>C (p.Cys1996Arg)
c.5941T>C (p.Cys1981Arg)
n.6193T>C
c.6094T>C (p.Cys2032Arg)
c.4999T>C (p.Cys1667Arg)
c.1183T>C (p.Cys395Arg)
c.736T>C (p.Cys246Arg)
c.73T>C (p.Cys25Arg)
c.4588T>C (p.Cys1530Arg)
n.6111T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830672A>TCA359202640DNAH5n.917T>A
c.5986T>A (p.Cys1996Ser)
c.5941T>A (p.Cys1981Ser)
n.6193T>A
c.6094T>A (p.Cys2032Ser)
c.4999T>A (p.Cys1667Ser)
c.1183T>A (p.Cys395Ser)
c.736T>A (p.Cys246Ser)
c.73T>A (p.Cys25Ser)
c.4588T>A (p.Cys1530Ser)
n.6111T>A
5g.13830673T>ACA443252987DNAH5n.916A>T
c.5985A>T (p.Arg1995=)
c.5940A>T (p.Arg1980=)
n.6192A>T
c.6093A>T (p.Arg2031=)
c.4998A>T (p.Arg1666=)
c.1182A>T (p.Arg394=)
c.735A>T (p.Arg245=)
c.72A>T (p.Arg24=)
c.4587A>T (p.Arg1529=)
n.6110A>T
5g.13830673T>CCA443252988DNAH5n.916A>G
c.5985A>G (p.Arg1995=)
c.5940A>G (p.Arg1980=)
n.6192A>G
c.6093A>G (p.Arg2031=)
c.4998A>G (p.Arg1666=)
c.1182A>G (p.Arg394=)
c.735A>G (p.Arg245=)
c.72A>G (p.Arg24=)
c.4587A>G (p.Arg1529=)
n.6110A>G
5g.13830673T>GCA443252990DNAH5n.916A>C
c.5985A>C (p.Arg1995=)
c.5940A>C (p.Arg1980=)
n.6192A>C
c.6093A>C (p.Arg2031=)
c.4998A>C (p.Arg1666=)
c.1182A>C (p.Arg394=)
c.735A>C (p.Arg245=)
c.72A>C (p.Arg24=)
c.4587A>C (p.Arg1529=)
n.6110A>C
5g.13830674C>ACA359202643DNAH5n.915G>T
c.5984G>T (p.Arg1995Leu)
c.5939G>T (p.Arg1980Leu)
n.6191G>T
c.6092G>T (p.Arg2031Leu)
c.4997G>T (p.Arg1666Leu)
c.1181G>T (p.Arg394Leu)
c.734G>T (p.Arg245Leu)
c.71G>T (p.Arg24Leu)
c.4586G>T (p.Arg1529Leu)
n.6109G>T
5g.13830674C=CA1528458776DNAH5n.915G=
c.5984G= (p.Arg1995=)
c.5939G= (p.Arg1980=)
n.6191G=
c.6092G= (p.Arg2031=)
c.4997G= (p.Arg1666=)
c.1181G= (p.Arg394=)
c.734G= (p.Arg245=)
c.71G= (p.Arg24=)
c.4586G= (p.Arg1529=)
n.6109G=
5g.13830674C>GCA359202644DNAH5n.915G>C
c.5984G>C (p.Arg1995Pro)
c.5939G>C (p.Arg1980Pro)
n.6191G>C
c.6092G>C (p.Arg2031Pro)
c.4997G>C (p.Arg1666Pro)
c.1181G>C (p.Arg394Pro)
c.734G>C (p.Arg245Pro)
c.71G>C (p.Arg24Pro)
c.4586G>C (p.Arg1529Pro)
n.6109G>C
5g.13830674C>TCA113938488DNAH5n.915G>A
c.5984G>A (p.Arg1995Gln)
c.5939G>A (p.Arg1980Gln)
n.6191G>A
c.6092G>A (p.Arg2031Gln)
c.4997G>A (p.Arg1666Gln)
c.1181G>A (p.Arg394Gln)
c.734G>A (p.Arg245Gln)
c.71G>A (p.Arg24Gln)
c.4586G>A (p.Arg1529Gln)
n.6109G>A
 dbSNP gnomAD v4
5g.13830675G>ACA3203516DNAH5n.914C>T
c.5983C>T (p.Arg1995Ter)
c.5938C>T (p.Arg1980Ter)
n.6190C>T
c.6091C>T (p.Arg2031Ter)
c.4996C>T (p.Arg1666Ter)
c.1180C>T (p.Arg394Ter)
c.733C>T (p.Arg245Ter)
c.70C>T (p.Arg24Ter)
c.4585C>T (p.Arg1529Ter)
n.6108C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830675G>CCA359202649DNAH5n.914C>G
c.5983C>G (p.Arg1995Gly)
c.5938C>G (p.Arg1980Gly)
n.6190C>G
c.6091C>G (p.Arg2031Gly)
c.4996C>G (p.Arg1666Gly)
c.1180C>G (p.Arg394Gly)
c.733C>G (p.Arg245Gly)
c.70C>G (p.Arg24Gly)
c.4585C>G (p.Arg1529Gly)
n.6108C>G
 gnomAD v4
5g.13830675G=CA1528458777DNAH5n.914C=
c.5983C= (p.Arg1995=)
c.5938C= (p.Arg1980=)
n.6190C=
c.6091C= (p.Arg2031=)
c.4996C= (p.Arg1666=)
c.1180C= (p.Arg394=)
c.733C= (p.Arg245=)
c.70C= (p.Arg24=)
c.4585C= (p.Arg1529=)
n.6108C=
5g.13830675G>TCA443252997DNAH5n.914C>A
c.5983C>A (p.Arg1995=)
c.5938C>A (p.Arg1980=)
n.6190C>A
c.6091C>A (p.Arg2031=)
c.4996C>A (p.Arg1666=)
c.1180C>A (p.Arg394=)
c.733C>A (p.Arg245=)
c.70C>A (p.Arg24=)
c.4585C>A (p.Arg1529=)
n.6108C>A
5g.13830676T>ACA443252999DNAH5n.913A>T
c.5982A>T (p.Gly1994=)
c.5937A>T (p.Gly1979=)
n.6189A>T
c.6090A>T (p.Gly2030=)
c.4995A>T (p.Gly1665=)
c.1179A>T (p.Gly393=)
c.732A>T (p.Gly244=)
c.69A>T (p.Gly23=)
c.4584A>T (p.Gly1528=)
n.6107A>T
5g.13830676T>CCA443253000DNAH5n.913A>G
c.5982A>G (p.Gly1994=)
c.5937A>G (p.Gly1979=)
n.6189A>G
c.6090A>G (p.Gly2030=)
c.4995A>G (p.Gly1665=)
c.1179A>G (p.Gly393=)
c.732A>G (p.Gly244=)
c.69A>G (p.Gly23=)
c.4584A>G (p.Gly1528=)
n.6107A>G
5g.13830676T>GCA443253002DNAH5n.913A>C
c.5982A>C (p.Gly1994=)
c.5937A>C (p.Gly1979=)
n.6189A>C
c.6090A>C (p.Gly2030=)
c.4995A>C (p.Gly1665=)
c.1179A>C (p.Gly393=)
c.732A>C (p.Gly244=)
c.69A>C (p.Gly23=)
c.4584A>C (p.Gly1528=)
n.6107A>C
5g.13830677C>ACA359202658DNAH5n.912G>T
c.5981G>T (p.Gly1994Val)
c.5936G>T (p.Gly1979Val)
n.6188G>T
c.6089G>T (p.Gly2030Val)
c.4994G>T (p.Gly1665Val)
c.1178G>T (p.Gly393Val)
c.731G>T (p.Gly244Val)
c.68G>T (p.Gly23Val)
c.4583G>T (p.Gly1528Val)
n.6106G>T
5g.13830677C>GCA359202654DNAH5n.912G>C
c.5981G>C (p.Gly1994Ala)
c.5936G>C (p.Gly1979Ala)
n.6188G>C
c.6089G>C (p.Gly2030Ala)
c.4994G>C (p.Gly1665Ala)
c.1178G>C (p.Gly393Ala)
c.731G>C (p.Gly244Ala)
c.68G>C (p.Gly23Ala)
c.4583G>C (p.Gly1528Ala)
n.6106G>C
5g.13830677C>TCA359202652DNAH5n.912G>A
c.5981G>A (p.Gly1994Glu)
c.5936G>A (p.Gly1979Glu)
n.6188G>A
c.6089G>A (p.Gly2030Glu)
c.4994G>A (p.Gly1665Glu)
c.1178G>A (p.Gly393Glu)
c.731G>A (p.Gly244Glu)
c.68G>A (p.Gly23Glu)
c.4583G>A (p.Gly1528Glu)
n.6106G>A
5g.13830678C>ACA359202660DNAH5n.911G>T
c.5980G>T (p.Gly1994Ter)
c.5935G>T (p.Gly1979Ter)
n.6187G>T
c.6088G>T (p.Gly2030Ter)
c.4993G>T (p.Gly1665Ter)
c.1177G>T (p.Gly393Ter)
c.730G>T (p.Gly244Ter)
c.67G>T (p.Gly23Ter)
c.4582G>T (p.Gly1528Ter)
n.6105G>T
5g.13830678C>GCA359202662DNAH5n.911G>C
c.5980G>C (p.Gly1994Arg)
c.5935G>C (p.Gly1979Arg)
n.6187G>C
c.6088G>C (p.Gly2030Arg)
c.4993G>C (p.Gly1665Arg)
c.1177G>C (p.Gly393Arg)
c.730G>C (p.Gly244Arg)
c.67G>C (p.Gly23Arg)
c.4582G>C (p.Gly1528Arg)
n.6105G>C
5g.13830678C>TCA359202668DNAH5n.911G>A
c.5980G>A (p.Gly1994Arg)
c.5935G>A (p.Gly1979Arg)
n.6187G>A
c.6088G>A (p.Gly2030Arg)
c.4993G>A (p.Gly1665Arg)
c.1177G>A (p.Gly393Arg)
c.730G>A (p.Gly244Arg)
c.67G>A (p.Gly23Arg)
c.4582G>A (p.Gly1528Arg)
n.6105G>A
5g.13830679C>ACA359202671DNAH5n.910G>T
c.5979G>T (p.Met1993Ile)
c.5934G>T (p.Met1978Ile)
n.6186G>T
c.6087G>T (p.Met2029Ile)
c.4992G>T (p.Met1664Ile)
c.1176G>T (p.Met392Ile)
c.729G>T (p.Met243Ile)
c.66G>T (p.Met22Ile)
c.4581G>T (p.Met1527Ile)
n.6104G>T
5g.13830679C>GCA359202674DNAH5n.910G>C
c.5979G>C (p.Met1993Ile)
c.5934G>C (p.Met1978Ile)
n.6186G>C
c.6087G>C (p.Met2029Ile)
c.4992G>C (p.Met1664Ile)
c.1176G>C (p.Met392Ile)
c.729G>C (p.Met243Ile)
c.66G>C (p.Met22Ile)
c.4581G>C (p.Met1527Ile)
n.6104G>C
5g.13830679C>TCA359202675DNAH5n.910G>A
c.5979G>A (p.Met1993Ile)
c.5934G>A (p.Met1978Ile)
n.6186G>A
c.6087G>A (p.Met2029Ile)
c.4992G>A (p.Met1664Ile)
c.1176G>A (p.Met392Ile)
c.729G>A (p.Met243Ile)
c.66G>A (p.Met22Ile)
c.4581G>A (p.Met1527Ile)
n.6104G>A
 COSMIC
5g.13830680A>CCA359202679DNAH5n.909T>G
c.5978T>G (p.Met1993Arg)
c.5933T>G (p.Met1978Arg)
n.6185T>G
c.6086T>G (p.Met2029Arg)
c.4991T>G (p.Met1664Arg)
c.1175T>G (p.Met392Arg)
c.728T>G (p.Met243Arg)
c.65T>G (p.Met22Arg)
c.4580T>G (p.Met1527Arg)
n.6103T>G
5g.13830680A>GCA359202682DNAH5n.909T>C
c.5978T>C (p.Met1993Thr)
c.5933T>C (p.Met1978Thr)
n.6185T>C
c.6086T>C (p.Met2029Thr)
c.4991T>C (p.Met1664Thr)
c.1175T>C (p.Met392Thr)
c.728T>C (p.Met243Thr)
c.65T>C (p.Met22Thr)
c.4580T>C (p.Met1527Thr)
n.6103T>C
 gnomAD v4
5g.13830680A>TCA359202686DNAH5n.909T>A
c.5978T>A (p.Met1993Lys)
c.5933T>A (p.Met1978Lys)
n.6185T>A
c.6086T>A (p.Met2029Lys)
c.4991T>A (p.Met1664Lys)
c.1175T>A (p.Met392Lys)
c.728T>A (p.Met243Lys)
c.65T>A (p.Met22Lys)
c.4580T>A (p.Met1527Lys)
n.6103T>A
5g.13830681T>ACA359202689DNAH5n.908A>T
c.5977A>T (p.Met1993Leu)
c.5932A>T (p.Met1978Leu)
n.6184A>T
c.6085A>T (p.Met2029Leu)
c.4990A>T (p.Met1664Leu)
c.1174A>T (p.Met392Leu)
c.727A>T (p.Met243Leu)
c.64A>T (p.Met22Leu)
c.4579A>T (p.Met1527Leu)
n.6102A>T
5g.13830681T>CCA3203517DNAH5n.908A>G
c.5977A>G (p.Met1993Val)
c.5932A>G (p.Met1978Val)
n.6184A>G
c.6085A>G (p.Met2029Val)
c.4990A>G (p.Met1664Val)
c.1174A>G (p.Met392Val)
c.727A>G (p.Met243Val)
c.64A>G (p.Met22Val)
c.4579A>G (p.Met1527Val)
n.6102A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830681T>GCA359202697DNAH5n.908A>C
c.5977A>C (p.Met1993Leu)
c.5932A>C (p.Met1978Leu)
n.6184A>C
c.6085A>C (p.Met2029Leu)
c.4990A>C (p.Met1664Leu)
c.1174A>C (p.Met392Leu)
c.727A>C (p.Met243Leu)
c.64A>C (p.Met22Leu)
c.4579A>C (p.Met1527Leu)
n.6102A>C
5g.13830681T=CA1528458778DNAH5n.908A=
c.5977A= (p.Met1993=)
c.5932A= (p.Met1978=)
n.6184A=
c.6085A= (p.Met2029=)
c.4990A= (p.Met1664=)
c.1174A= (p.Met392=)
c.727A= (p.Met243=)
c.64A= (p.Met22=)
c.4579A= (p.Met1527=)
n.6102A=
5g.13830682G>ACA443253021DNAH5n.907C>T
c.5976C>T (p.Asp1992=)
c.5931C>T (p.Asp1977=)
n.6183C>T
c.6084C>T (p.Asp2028=)
c.4989C>T (p.Asp1663=)
c.1173C>T (p.Asp391=)
c.726C>T (p.Asp242=)
c.63C>T (p.Asp21=)
c.4578C>T (p.Asp1526=)
n.6101C>T
5g.13830682G>CCA359202703DNAH5n.907C>G
c.5976C>G (p.Asp1992Glu)
c.5931C>G (p.Asp1977Glu)
n.6183C>G
c.6084C>G (p.Asp2028Glu)
c.4989C>G (p.Asp1663Glu)
c.1173C>G (p.Asp391Glu)
c.726C>G (p.Asp242Glu)
c.63C>G (p.Asp21Glu)
c.4578C>G (p.Asp1526Glu)
n.6101C>G
5g.13830682G>TCA359202705DNAH5n.907C>A
c.5976C>A (p.Asp1992Glu)
c.5931C>A (p.Asp1977Glu)
n.6183C>A
c.6084C>A (p.Asp2028Glu)
c.4989C>A (p.Asp1663Glu)
c.1173C>A (p.Asp391Glu)
c.726C>A (p.Asp242Glu)
c.63C>A (p.Asp21Glu)
c.4578C>A (p.Asp1526Glu)
n.6101C>A
5g.13830683T>ACA359202710DNAH5n.906A>T
c.5975A>T (p.Asp1992Val)
c.5930A>T (p.Asp1977Val)
n.6182A>T
c.6083A>T (p.Asp2028Val)
c.4988A>T (p.Asp1663Val)
c.1172A>T (p.Asp391Val)
c.725A>T (p.Asp242Val)
c.62A>T (p.Asp21Val)
c.4577A>T (p.Asp1526Val)
n.6100A>T
5g.13830683T>CCA359202711DNAH5n.906A>G
c.5975A>G (p.Asp1992Gly)
c.5930A>G (p.Asp1977Gly)
n.6182A>G
c.6083A>G (p.Asp2028Gly)
c.4988A>G (p.Asp1663Gly)
c.1172A>G (p.Asp391Gly)
c.725A>G (p.Asp242Gly)
c.62A>G (p.Asp21Gly)
c.4577A>G (p.Asp1526Gly)
n.6100A>G
5g.13830683T>GCA359202708DNAH5n.906A>C
c.5975A>C (p.Asp1992Ala)
c.5930A>C (p.Asp1977Ala)
n.6182A>C
c.6083A>C (p.Asp2028Ala)
c.4988A>C (p.Asp1663Ala)
c.1172A>C (p.Asp391Ala)
c.725A>C (p.Asp242Ala)
c.62A>C (p.Asp21Ala)
c.4577A>C (p.Asp1526Ala)
n.6100A>C
5g.13830684C>ACA359202713DNAH5n.905G>T
c.5974G>T (p.Asp1992Tyr)
c.5929G>T (p.Asp1977Tyr)
n.6181G>T
c.6082G>T (p.Asp2028Tyr)
c.4987G>T (p.Asp1663Tyr)
c.1171G>T (p.Asp391Tyr)
c.724G>T (p.Asp242Tyr)
c.61G>T (p.Asp21Tyr)
c.4576G>T (p.Asp1526Tyr)
n.6099G>T
5g.13830684C>GCA359202716DNAH5n.905G>C
c.5974G>C (p.Asp1992His)
c.5929G>C (p.Asp1977His)
n.6181G>C
c.6082G>C (p.Asp2028His)
c.4987G>C (p.Asp1663His)
c.1171G>C (p.Asp391His)
c.724G>C (p.Asp242His)
c.61G>C (p.Asp21His)
c.4576G>C (p.Asp1526His)
n.6099G>C
5g.13830684C>TCA359202718DNAH5n.905G>A
c.5974G>A (p.Asp1992Asn)
c.5929G>A (p.Asp1977Asn)
n.6181G>A
c.6082G>A (p.Asp2028Asn)
c.4987G>A (p.Asp1663Asn)
c.1171G>A (p.Asp391Asn)
c.724G>A (p.Asp242Asn)
c.61G>A (p.Asp21Asn)
c.4576G>A (p.Asp1526Asn)
n.6099G>A
5g.13830685T>ACA359202721DNAH5n.904A>T
c.5973A>T (p.Lys1991Asn)
c.5928A>T (p.Lys1976Asn)
n.6180A>T
c.6081A>T (p.Lys2027Asn)
c.4986A>T (p.Lys1662Asn)
c.1170A>T (p.Lys390Asn)
c.723A>T (p.Lys241Asn)
c.60A>T (p.Lys20Asn)
c.4575A>T (p.Lys1525Asn)
n.6098A>T
5g.13830685T>CCA443253028DNAH5n.904A>G
c.5973A>G (p.Lys1991=)
c.5928A>G (p.Lys1976=)
n.6180A>G
c.6081A>G (p.Lys2027=)
c.4986A>G (p.Lys1662=)
c.1170A>G (p.Lys390=)
c.723A>G (p.Lys241=)
c.60A>G (p.Lys20=)
c.4575A>G (p.Lys1525=)
n.6098A>G
5g.13830685T>GCA359202722DNAH5n.904A>C
c.5973A>C (p.Lys1991Asn)
c.5928A>C (p.Lys1976Asn)
n.6180A>C
c.6081A>C (p.Lys2027Asn)
c.4986A>C (p.Lys1662Asn)
c.1170A>C (p.Lys390Asn)
c.723A>C (p.Lys241Asn)
c.60A>C (p.Lys20Asn)
c.4575A>C (p.Lys1525Asn)
n.6098A>C
5g.13830686T>ACA359202725DNAH5n.903A>T
c.5972A>T (p.Lys1991Ile)
c.5927A>T (p.Lys1976Ile)
n.6179A>T
c.6080A>T (p.Lys2027Ile)
c.4985A>T (p.Lys1662Ile)
c.1169A>T (p.Lys390Ile)
c.722A>T (p.Lys241Ile)
c.59A>T (p.Lys20Ile)
c.4574A>T (p.Lys1525Ile)
n.6097A>T
5g.13830686T>CCA359202726DNAH5n.903A>G
c.5972A>G (p.Lys1991Arg)
c.5927A>G (p.Lys1976Arg)
n.6179A>G
c.6080A>G (p.Lys2027Arg)
c.4985A>G (p.Lys1662Arg)
c.1169A>G (p.Lys390Arg)
c.722A>G (p.Lys241Arg)
c.59A>G (p.Lys20Arg)
c.4574A>G (p.Lys1525Arg)
n.6097A>G
5g.13830686T>GCA359202728DNAH5n.903A>C
c.5972A>C (p.Lys1991Thr)
c.5927A>C (p.Lys1976Thr)
n.6179A>C
c.6080A>C (p.Lys2027Thr)
c.4985A>C (p.Lys1662Thr)
c.1169A>C (p.Lys390Thr)
c.722A>C (p.Lys241Thr)
c.59A>C (p.Lys20Thr)
c.4574A>C (p.Lys1525Thr)
n.6097A>C
5g.13830687T>ACA359202731DNAH5n.902A>T
c.5971A>T (p.Lys1991Ter)
c.5926A>T (p.Lys1976Ter)
n.6178A>T
c.6079A>T (p.Lys2027Ter)
c.4984A>T (p.Lys1662Ter)
c.1168A>T (p.Lys390Ter)
c.721A>T (p.Lys241Ter)
c.58A>T (p.Lys20Ter)
c.4573A>T (p.Lys1525Ter)
n.6096A>T
5g.13830687T>CCA359202736DNAH5n.902A>G
c.5971A>G (p.Lys1991Glu)
c.5926A>G (p.Lys1976Glu)
n.6178A>G
c.6079A>G (p.Lys2027Glu)
c.4984A>G (p.Lys1662Glu)
c.1168A>G (p.Lys390Glu)
c.721A>G (p.Lys241Glu)
c.58A>G (p.Lys20Glu)
c.4573A>G (p.Lys1525Glu)
n.6096A>G
 dbSNP
5g.13830687T>GCA359202734DNAH5n.902A>C
c.5971A>C (p.Lys1991Gln)
c.5926A>C (p.Lys1976Gln)
n.6178A>C
c.6079A>C (p.Lys2027Gln)
c.4984A>C (p.Lys1662Gln)
c.1168A>C (p.Lys390Gln)
c.721A>C (p.Lys241Gln)
c.58A>C (p.Lys20Gln)
c.4573A>C (p.Lys1525Gln)
n.6096A>C
5g.13830687T=CA1528458779DNAH5n.902A=
c.5971A= (p.Lys1991=)
c.5926A= (p.Lys1976=)
n.6178A=
c.6079A= (p.Lys2027=)
c.4984A= (p.Lys1662=)
c.1168A= (p.Lys390=)
c.721A= (p.Lys241=)
c.58A= (p.Lys20=)
c.4573A= (p.Lys1525=)
n.6096A=
5g.13830688A=CA1528458780DNAH5n.901T=
c.5970T= (p.Thr1990=)
c.5925T= (p.Thr1975=)
n.6177T=
c.6078T= (p.Thr2026=)
c.4983T= (p.Thr1661=)
c.1167T= (p.Thr389=)
c.720T= (p.Thr240=)
c.57T= (p.Thr19=)
c.4572T= (p.Thr1524=)
n.6095T=
5g.13830688A>CCA443253037DNAH5n.901T>G
c.5970T>G (p.Thr1990=)
c.5925T>G (p.Thr1975=)
n.6177T>G
c.6078T>G (p.Thr2026=)
c.4983T>G (p.Thr1661=)
c.1167T>G (p.Thr389=)
c.720T>G (p.Thr240=)
c.57T>G (p.Thr19=)
c.4572T>G (p.Thr1524=)
n.6095T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13830688A>GCA3203518DNAH5n.901T>C
c.5970T>C (p.Thr1990=)
c.5925T>C (p.Thr1975=)
n.6177T>C
c.6078T>C (p.Thr2026=)
c.4983T>C (p.Thr1661=)
c.1167T>C (p.Thr389=)
c.720T>C (p.Thr240=)
c.57T>C (p.Thr19=)
c.4572T>C (p.Thr1524=)
n.6095T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13830688A>TCA443253039DNAH5n.901T>A
c.5970T>A (p.Thr1990=)
c.5925T>A (p.Thr1975=)
n.6177T>A
c.6078T>A (p.Thr2026=)
c.4983T>A (p.Thr1661=)
c.1167T>A (p.Thr389=)
c.720T>A (p.Thr240=)
c.57T>A (p.Thr19=)
c.4572T>A (p.Thr1524=)
n.6095T>A
5g.13830689G>ACA359202738DNAH5n.900C>T
c.5969C>T (p.Thr1990Ile)
c.5924C>T (p.Thr1975Ile)
n.6176C>T
c.6077C>T (p.Thr2026Ile)
c.4982C>T (p.Thr1661Ile)
c.1166C>T (p.Thr389Ile)
c.719C>T (p.Thr240Ile)
c.56C>T (p.Thr19Ile)
c.4571C>T (p.Thr1524Ile)
n.6094C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13830689G>CCA359202741DNAH5n.900C>G
c.5969C>G (p.Thr1990Ser)
c.5924C>G (p.Thr1975Ser)
n.6176C>G
c.6077C>G (p.Thr2026Ser)
c.4982C>G (p.Thr1661Ser)
c.1166C>G (p.Thr389Ser)
c.719C>G (p.Thr240Ser)
c.56C>G (p.Thr19Ser)
c.4571C>G (p.Thr1524Ser)
n.6094C>G
5g.13830689G=CA1528458781DNAH5n.900C=
c.5969C= (p.Thr1990=)
c.5924C= (p.Thr1975=)
n.6176C=
c.6077C= (p.Thr2026=)
c.4982C= (p.Thr1661=)
c.1166C= (p.Thr389=)
c.719C= (p.Thr240=)
c.56C= (p.Thr19=)
c.4571C= (p.Thr1524=)
n.6094C=
5g.13830689G>TCA359202743DNAH5n.900C>A
c.5969C>A (p.Thr1990Asn)
c.5924C>A (p.Thr1975Asn)
n.6176C>A
c.6077C>A (p.Thr2026Asn)
c.4982C>A (p.Thr1661Asn)
c.1166C>A (p.Thr389Asn)
c.719C>A (p.Thr240Asn)
c.56C>A (p.Thr19Asn)
c.4571C>A (p.Thr1524Asn)
n.6094C>A
5g.13830690T>ACA359202749DNAH5n.899A>T
c.5968A>T (p.Thr1990Ser)
c.5923A>T (p.Thr1975Ser)
n.6175A>T
c.6076A>T (p.Thr2026Ser)
c.4981A>T (p.Thr1661Ser)
c.1165A>T (p.Thr389Ser)
c.718A>T (p.Thr240Ser)
c.55A>T (p.Thr19Ser)
c.4570A>T (p.Thr1524Ser)
n.6093A>T
5g.13830690T>CCA113938497DNAH5n.899A>G
c.5968A>G (p.Thr1990Ala)
c.5923A>G (p.Thr1975Ala)
n.6175A>G
c.6076A>G (p.Thr2026Ala)
c.4981A>G (p.Thr1661Ala)
c.1165A>G (p.Thr389Ala)
c.718A>G (p.Thr240Ala)
c.55A>G (p.Thr19Ala)
c.4570A>G (p.Thr1524Ala)
n.6093A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13830690T>GCA359202750DNAH5n.899A>C
c.5968A>C (p.Thr1990Pro)
c.5923A>C (p.Thr1975Pro)
n.6175A>C
c.6076A>C (p.Thr2026Pro)
c.4981A>C (p.Thr1661Pro)
c.1165A>C (p.Thr389Pro)
c.718A>C (p.Thr240Pro)
c.55A>C (p.Thr19Pro)
c.4570A>C (p.Thr1524Pro)
n.6093A>C
5g.13830690T=CA1528458782DNAH5n.899A=
c.5968A= (p.Thr1990=)
c.5923A= (p.Thr1975=)
n.6175A=
c.6076A= (p.Thr2026=)
c.4981A= (p.Thr1661=)
c.1165A= (p.Thr389=)
c.718A= (p.Thr240=)
c.55A= (p.Thr19=)
c.4570A= (p.Thr1524=)
n.6093A=
5g.13830691G>ACA443253049DNAH5n.898C>T
c.5967C>T (p.Thr1989=)
c.5922C>T (p.Thr1974=)
n.6174C>T
c.6075C>T (p.Thr2025=)
c.4980C>T (p.Thr1660=)
c.1164C>T (p.Thr388=)
c.717C>T (p.Thr239=)
c.54C>T (p.Thr18=)
c.4569C>T (p.Thr1523=)
n.6092C>T
 ClinVar dbSNP
5g.13830691G>CCA443253051DNAH5n.898C>G
c.5967C>G (p.Thr1989=)
c.5922C>G (p.Thr1974=)
n.6174C>G
c.6075C>G (p.Thr2025=)
c.4980C>G (p.Thr1660=)
c.1164C>G (p.Thr388=)
c.717C>G (p.Thr239=)
c.54C>G (p.Thr18=)
c.4569C>G (p.Thr1523=)
n.6092C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13830691G=CA1528458783DNAH5n.898C=
c.5967C= (p.Thr1989=)
c.5922C= (p.Thr1974=)
n.6174C=
c.6075C= (p.Thr2025=)
c.4980C= (p.Thr1660=)
c.1164C= (p.Thr388=)
c.717C= (p.Thr239=)
c.54C= (p.Thr18=)
c.4569C= (p.Thr1523=)
n.6092C=
5g.13830691G>TCA443253053DNAH5n.898C>A
c.5967C>A (p.Thr1989=)
c.5922C>A (p.Thr1974=)
n.6174C>A
c.6075C>A (p.Thr2025=)
c.4980C>A (p.Thr1660=)
c.1164C>A (p.Thr388=)
c.717C>A (p.Thr239=)
c.54C>A (p.Thr18=)
c.4569C>A (p.Thr1523=)
n.6092C>A
5g.13830692G>ACA359202755DNAH5n.897C>T
c.5966C>T (p.Thr1989Ile)
c.5921C>T (p.Thr1974Ile)
n.6173C>T
c.6074C>T (p.Thr2025Ile)
c.4979C>T (p.Thr1660Ile)
c.1163C>T (p.Thr388Ile)
c.716C>T (p.Thr239Ile)
c.53C>T (p.Thr18Ile)
c.4568C>T (p.Thr1523Ile)
n.6091C>T
 dbSNP gnomAD v4
5g.13830692G>CCA359202757DNAH5n.897C>G
c.5966C>G (p.Thr1989Ser)
c.5921C>G (p.Thr1974Ser)
n.6173C>G
c.6074C>G (p.Thr2025Ser)
c.4979C>G (p.Thr1660Ser)
c.1163C>G (p.Thr388Ser)
c.716C>G (p.Thr239Ser)
c.53C>G (p.Thr18Ser)
c.4568C>G (p.Thr1523Ser)
n.6091C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13830692G=CA1528458784DNAH5n.897C=
c.5966C= (p.Thr1989=)
c.5921C= (p.Thr1974=)
n.6173C=
c.6074C= (p.Thr2025=)
c.4979C= (p.Thr1660=)
c.1163C= (p.Thr388=)
c.716C= (p.Thr239=)
c.53C= (p.Thr18=)
c.4568C= (p.Thr1523=)
n.6091C=
5g.13830692G>TCA359202759DNAH5n.897C>A
c.5966C>A (p.Thr1989Asn)
c.5921C>A (p.Thr1974Asn)
n.6173C>A
c.6074C>A (p.Thr2025Asn)
c.4979C>A (p.Thr1660Asn)
c.1163C>A (p.Thr388Asn)
c.716C>A (p.Thr239Asn)
c.53C>A (p.Thr18Asn)
c.4568C>A (p.Thr1523Asn)
n.6091C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13830693T>ACA359202760DNAH5n.896A>T
c.5965A>T (p.Thr1989Ser)
c.5920A>T (p.Thr1974Ser)
n.6172A>T
c.6073A>T (p.Thr2025Ser)
c.4978A>T (p.Thr1660Ser)
c.1162A>T (p.Thr388Ser)
c.715A>T (p.Thr239Ser)
c.52A>T (p.Thr18Ser)
c.4567A>T (p.Thr1523Ser)
n.6090A>T
5g.13830693T>CCA359202761DNAH5n.896A>G
c.5965A>G (p.Thr1989Ala)
c.5920A>G (p.Thr1974Ala)
n.6172A>G
c.6073A>G (p.Thr2025Ala)
c.4978A>G (p.Thr1660Ala)
c.1162A>G (p.Thr388Ala)
c.715A>G (p.Thr239Ala)
c.52A>G (p.Thr18Ala)
c.4567A>G (p.Thr1523Ala)
n.6090A>G
5g.13830693T>GCA359202762DNAH5n.896A>C
c.5965A>C (p.Thr1989Pro)
c.5920A>C (p.Thr1974Pro)
n.6172A>C
c.6073A>C (p.Thr2025Pro)
c.4978A>C (p.Thr1660Pro)
c.1162A>C (p.Thr388Pro)
c.715A>C (p.Thr239Pro)
c.52A>C (p.Thr18Pro)
c.4567A>C (p.Thr1523Pro)
n.6090A>C
5g.13830694T>ACA359202763DNAH5n.895A>T
c.5964A>T (p.Glu1988Asp)
c.5919A>T (p.Glu1973Asp)
n.6171A>T
c.6072A>T (p.Glu2024Asp)
c.4977A>T (p.Glu1659Asp)
c.1161A>T (p.Glu387Asp)
c.714A>T (p.Glu238Asp)
c.51A>T (p.Glu17Asp)
c.4566A>T (p.Glu1522Asp)
n.6089A>T
5g.13830694T>CCA3203519DNAH5n.895A>G
c.5964A>G (p.Glu1988=)
c.5919A>G (p.Glu1973=)
n.6171A>G
c.6072A>G (p.Glu2024=)
c.4977A>G (p.Glu1659=)
c.1161A>G (p.Glu387=)
c.714A>G (p.Glu238=)
c.51A>G (p.Glu17=)
c.4566A>G (p.Glu1522=)
n.6089A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13830694T>GCA359202764DNAH5n.895A>C
c.5964A>C (p.Glu1988Asp)
c.5919A>C (p.Glu1973Asp)
n.6171A>C
c.6072A>C (p.Glu2024Asp)
c.4977A>C (p.Glu1659Asp)
c.1161A>C (p.Glu387Asp)
c.714A>C (p.Glu238Asp)
c.51A>C (p.Glu17Asp)
c.4566A>C (p.Glu1522Asp)
n.6089A>C
5g.13830694T=CA1528458785DNAH5n.895A=
c.5964A= (p.Glu1988=)
c.5919A= (p.Glu1973=)
n.6171A=
c.6072A= (p.Glu2024=)
c.4977A= (p.Glu1659=)
c.1161A= (p.Glu387=)
c.714A= (p.Glu238=)
c.51A= (p.Glu17=)
c.4566A= (p.Glu1522=)
n.6089A=
5g.13830695T>ACA359202767DNAH5n.894A>T
c.5963A>T (p.Glu1988Val)
c.5918A>T (p.Glu1973Val)
n.6170A>T
c.6071A>T (p.Glu2024Val)
c.4976A>T (p.Glu1659Val)
c.1160A>T (p.Glu387Val)
c.713A>T (p.Glu238Val)
c.50A>T (p.Glu17Val)
c.4565A>T (p.Glu1522Val)
n.6088A>T
5g.13830695T>CCA359202768DNAH5n.894A>G
c.5963A>G (p.Glu1988Gly)
c.5918A>G (p.Glu1973Gly)
n.6170A>G
c.6071A>G (p.Glu2024Gly)
c.4976A>G (p.Glu1659Gly)
c.1160A>G (p.Glu387Gly)
c.713A>G (p.Glu238Gly)
c.50A>G (p.Glu17Gly)
c.4565A>G (p.Glu1522Gly)
n.6088A>G
5g.13830695T>GCA359202770DNAH5n.894A>C
c.5963A>C (p.Glu1988Ala)
c.5918A>C (p.Glu1973Ala)
n.6170A>C
c.6071A>C (p.Glu2024Ala)
c.4976A>C (p.Glu1659Ala)
c.1160A>C (p.Glu387Ala)
c.713A>C (p.Glu238Ala)
c.50A>C (p.Glu17Ala)
c.4565A>C (p.Glu1522Ala)
n.6088A>C
5g.13830696C>ACA359202771DNAH5n.893G>T
c.5962G>T (p.Glu1988Ter)
c.5917G>T (p.Glu1973Ter)
n.6169G>T
c.6070G>T (p.Glu2024Ter)
c.4975G>T (p.Glu1659Ter)
c.1159G>T (p.Glu387Ter)
c.712G>T (p.Glu238Ter)
c.49G>T (p.Glu17Ter)
c.4564G>T (p.Glu1522Ter)
n.6087G>T
 COSMIC
5g.13830696C>GCA359202774DNAH5n.893G>C
c.5962G>C (p.Glu1988Gln)
c.5917G>C (p.Glu1973Gln)
n.6169G>C
c.6070G>C (p.Glu2024Gln)
c.4975G>C (p.Glu1659Gln)
c.1159G>C (p.Glu387Gln)
c.712G>C (p.Glu238Gln)
c.49G>C (p.Glu17Gln)
c.4564G>C (p.Glu1522Gln)
n.6087G>C
5g.13830696C>TCA359202772DNAH5n.893G>A
c.5962G>A (p.Glu1988Lys)
c.5917G>A (p.Glu1973Lys)
n.6169G>A
c.6070G>A (p.Glu2024Lys)
c.4975G>A (p.Glu1659Lys)
c.1159G>A (p.Glu387Lys)
c.712G>A (p.Glu238Lys)
c.49G>A (p.Glu17Lys)
c.4564G>A (p.Glu1522Lys)
n.6087G>A
5g.13830697T>ACA443253075DNAH5n.892A>T
c.5961A>T (p.Thr1987=)
c.5916A>T (p.Thr1972=)
n.6168A>T
c.6069A>T (p.Thr2023=)
c.4974A>T (p.Thr1658=)
c.1158A>T (p.Thr386=)
c.711A>T (p.Thr237=)
c.48A>T (p.Thr16=)
c.4563A>T (p.Thr1521=)
n.6086A>T
5g.13830697T>CCA443253073DNAH5n.892A>G
c.5961A>G (p.Thr1987=)
c.5916A>G (p.Thr1972=)
n.6168A>G
c.6069A>G (p.Thr2023=)
c.4974A>G (p.Thr1658=)
c.1158A>G (p.Thr386=)
c.711A>G (p.Thr237=)
c.48A>G (p.Thr16=)
c.4563A>G (p.Thr1521=)
n.6086A>G
 ClinVar
5g.13830697T>GCA443253071DNAH5n.892A>C
c.5961A>C (p.Thr1987=)
c.5916A>C (p.Thr1972=)
n.6168A>C
c.6069A>C (p.Thr2023=)
c.4974A>C (p.Thr1658=)
c.1158A>C (p.Thr386=)
c.711A>C (p.Thr237=)
c.48A>C (p.Thr16=)
c.4563A>C (p.Thr1521=)
n.6086A>C
5g.13830698G>ACA359202777DNAH5n.891C>T
c.5960C>T (p.Thr1987Ile)
c.5915C>T (p.Thr1972Ile)
n.6167C>T
c.6068C>T (p.Thr2023Ile)
c.4973C>T (p.Thr1658Ile)
c.1157C>T (p.Thr386Ile)
c.710C>T (p.Thr237Ile)
c.47C>T (p.Thr16Ile)
c.4562C>T (p.Thr1521Ile)
n.6085C>T
5g.13830698G>CCA359202779DNAH5n.891C>G
c.5960C>G (p.Thr1987Arg)
c.5915C>G (p.Thr1972Arg)
n.6167C>G
c.6068C>G (p.Thr2023Arg)
c.4973C>G (p.Thr1658Arg)
c.1157C>G (p.Thr386Arg)
c.710C>G (p.Thr237Arg)
c.47C>G (p.Thr16Arg)
c.4562C>G (p.Thr1521Arg)
n.6085C>G
5g.13830698G>TCA359202780DNAH5n.891C>A
c.5960C>A (p.Thr1987Lys)
c.5915C>A (p.Thr1972Lys)
n.6167C>A
c.6068C>A (p.Thr2023Lys)
c.4973C>A (p.Thr1658Lys)
c.1157C>A (p.Thr386Lys)
c.710C>A (p.Thr237Lys)
c.47C>A (p.Thr16Lys)
c.4562C>A (p.Thr1521Lys)
n.6085C>A
5g.13830699T>ACA359202782DNAH5n.890A>T
c.5959A>T (p.Thr1987Ser)
c.5914A>T (p.Thr1972Ser)
n.6166A>T
c.6067A>T (p.Thr2023Ser)
c.4972A>T (p.Thr1658Ser)
c.1156A>T (p.Thr386Ser)
c.709A>T (p.Thr237Ser)
c.46A>T (p.Thr16Ser)
c.4561A>T (p.Thr1521Ser)
n.6084A>T
5g.13830699T>CCA359202783DNAH5n.890A>G
c.5959A>G (p.Thr1987Ala)
c.5914A>G (p.Thr1972Ala)
n.6166A>G
c.6067A>G (p.Thr2023Ala)
c.4972A>G (p.Thr1658Ala)
c.1156A>G (p.Thr386Ala)
c.709A>G (p.Thr237Ala)
c.46A>G (p.Thr16Ala)
c.4561A>G (p.Thr1521Ala)
n.6084A>G
5g.13830699T>GCA359202785DNAH5n.890A>C
c.5959A>C (p.Thr1987Pro)
c.5914A>C (p.Thr1972Pro)
n.6166A>C
c.6067A>C (p.Thr2023Pro)
c.4972A>C (p.Thr1658Pro)
c.1156A>C (p.Thr386Pro)
c.709A>C (p.Thr237Pro)
c.46A>C (p.Thr16Pro)
c.4561A>C (p.Thr1521Pro)
n.6084A>C
5g.13830700T>ACA359202786DNAH5n.889A>T
c.5958A>T (p.Lys1986Asn)
c.5913A>T (p.Lys1971Asn)
n.6165A>T
c.6066A>T (p.Lys2022Asn)
c.4971A>T (p.Lys1657Asn)
c.1155A>T (p.Lys385Asn)
c.708A>T (p.Lys236Asn)
c.45A>T (p.Lys15Asn)
c.4560A>T (p.Lys1520Asn)
n.6083A>T
5g.13830700T>CCA443253085DNAH5n.889A>G
c.5958A>G (p.Lys1986=)
c.5913A>G (p.Lys1971=)
n.6165A>G
c.6066A>G (p.Lys2022=)
c.4971A>G (p.Lys1657=)
c.1155A>G (p.Lys385=)
c.708A>G (p.Lys236=)
c.45A>G (p.Lys15=)
c.4560A>G (p.Lys1520=)
n.6083A>G
5g.13830700T>GCA359202787DNAH5n.889A>C
c.5958A>C (p.Lys1986Asn)
c.5913A>C (p.Lys1971Asn)
n.6165A>C
c.6066A>C (p.Lys2022Asn)
c.4971A>C (p.Lys1657Asn)
c.1155A>C (p.Lys385Asn)
c.708A>C (p.Lys236Asn)
c.45A>C (p.Lys15Asn)
c.4560A>C (p.Lys1520Asn)
n.6083A>C
5g.13830701T>ACA359202790DNAH5n.888A>T
c.5957A>T (p.Lys1986Ile)
c.5912A>T (p.Lys1971Ile)
n.6164A>T
c.6065A>T (p.Lys2022Ile)
c.4970A>T (p.Lys1657Ile)
c.1154A>T (p.Lys385Ile)
c.707A>T (p.Lys236Ile)
c.44A>T (p.Lys15Ile)
c.4559A>T (p.Lys1520Ile)
n.6082A>T
5g.13830701T>CCA359202792DNAH5n.888A>G
c.5957A>G (p.Lys1986Arg)
c.5912A>G (p.Lys1971Arg)
n.6164A>G
c.6065A>G (p.Lys2022Arg)
c.4970A>G (p.Lys1657Arg)
c.1154A>G (p.Lys385Arg)
c.707A>G (p.Lys236Arg)
c.44A>G (p.Lys15Arg)
c.4559A>G (p.Lys1520Arg)
n.6082A>G
5g.13830701T>GCA359202794DNAH5n.888A>C
c.5957A>C (p.Lys1986Thr)
c.5912A>C (p.Lys1971Thr)
n.6164A>C
c.6065A>C (p.Lys2022Thr)
c.4970A>C (p.Lys1657Thr)
c.1154A>C (p.Lys385Thr)
c.707A>C (p.Lys236Thr)
c.44A>C (p.Lys15Thr)
c.4559A>C (p.Lys1520Thr)
n.6082A>C

Number of alleles fetched