Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13770757C>ACA443535480DNAH5c.9597G>T (p.Leu3199=)
c.9552G>T (p.Leu3184=)
n.309G>T
c.9705G>T (p.Leu3235=)
c.8610G>T (p.Leu2870=)
c.4794G>T (p.Leu1598=)
c.4347G>T (p.Leu1449=)
c.3684G>T (p.Leu1228=)
c.8199G>T (p.Leu2733=)
5g.13770757C>GCA443535481DNAH5c.9597G>C (p.Leu3199=)
c.9552G>C (p.Leu3184=)
n.309G>C
c.9705G>C (p.Leu3235=)
c.8610G>C (p.Leu2870=)
c.4794G>C (p.Leu1598=)
c.4347G>C (p.Leu1449=)
c.3684G>C (p.Leu1228=)
c.8199G>C (p.Leu2733=)
5g.13770757C>TCA443535482DNAH5c.9597G>A (p.Leu3199=)
c.9552G>A (p.Leu3184=)
n.309G>A
c.9705G>A (p.Leu3235=)
c.8610G>A (p.Leu2870=)
c.4794G>A (p.Leu1598=)
c.4347G>A (p.Leu1449=)
c.3684G>A (p.Leu1228=)
c.8199G>A (p.Leu2733=)
 gnomAD v4
5g.13770758A>CCA359204122DNAH5c.9596T>G (p.Leu3199Arg)
c.9551T>G (p.Leu3184Arg)
n.308T>G
c.9704T>G (p.Leu3235Arg)
c.8609T>G (p.Leu2870Arg)
c.4793T>G (p.Leu1598Arg)
c.4346T>G (p.Leu1449Arg)
c.3683T>G (p.Leu1228Arg)
c.8198T>G (p.Leu2733Arg)
5g.13770758A>GCA359204124DNAH5c.9596T>C (p.Leu3199Pro)
c.9551T>C (p.Leu3184Pro)
n.308T>C
c.9704T>C (p.Leu3235Pro)
c.8609T>C (p.Leu2870Pro)
c.4793T>C (p.Leu1598Pro)
c.4346T>C (p.Leu1449Pro)
c.3683T>C (p.Leu1228Pro)
c.8198T>C (p.Leu2733Pro)
 gnomAD v4
5g.13770758A>TCA359204126DNAH5c.9596T>A (p.Leu3199Gln)
c.9551T>A (p.Leu3184Gln)
n.308T>A
c.9704T>A (p.Leu3235Gln)
c.8609T>A (p.Leu2870Gln)
c.4793T>A (p.Leu1598Gln)
c.4346T>A (p.Leu1449Gln)
c.3683T>A (p.Leu1228Gln)
c.8198T>A (p.Leu2733Gln)
5g.13770759G>ACA443535486DNAH5c.9595C>T (p.Leu3199=)
c.9550C>T (p.Leu3184=)
n.307C>T
c.9703C>T (p.Leu3235=)
c.8608C>T (p.Leu2870=)
c.4792C>T (p.Leu1598=)
c.4345C>T (p.Leu1449=)
c.3682C>T (p.Leu1228=)
c.8197C>T (p.Leu2733=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770759G>CCA359204127DNAH5c.9595C>G (p.Leu3199Val)
c.9550C>G (p.Leu3184Val)
n.307C>G
c.9703C>G (p.Leu3235Val)
c.8608C>G (p.Leu2870Val)
c.4792C>G (p.Leu1598Val)
c.4345C>G (p.Leu1449Val)
c.3682C>G (p.Leu1228Val)
c.8197C>G (p.Leu2733Val)
5g.13770759G=CA1528431171DNAH5c.9595C= (p.Leu3199=)
c.9550C= (p.Leu3184=)
n.307C=
c.9703C= (p.Leu3235=)
c.8608C= (p.Leu2870=)
c.4792C= (p.Leu1598=)
c.4345C= (p.Leu1449=)
c.3682C= (p.Leu1228=)
c.8197C= (p.Leu2733=)
5g.13770759G>TCA359204128DNAH5c.9595C>A (p.Leu3199Met)
c.9550C>A (p.Leu3184Met)
n.307C>A
c.9703C>A (p.Leu3235Met)
c.8608C>A (p.Leu2870Met)
c.4792C>A (p.Leu1598Met)
c.4345C>A (p.Leu1449Met)
c.3682C>A (p.Leu1228Met)
c.8197C>A (p.Leu2733Met)
5g.13770760G>ACA443535487DNAH5c.9594C>T (p.Thr3198=)
c.9549C>T (p.Thr3183=)
n.306C>T
c.9702C>T (p.Thr3234=)
c.8607C>T (p.Thr2869=)
c.4791C>T (p.Thr1597=)
c.4344C>T (p.Thr1448=)
c.3681C>T (p.Thr1227=)
c.8196C>T (p.Thr2732=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13770760G>CCA443535488DNAH5c.9594C>G (p.Thr3198=)
c.9549C>G (p.Thr3183=)
n.306C>G
c.9702C>G (p.Thr3234=)
c.8607C>G (p.Thr2869=)
c.4791C>G (p.Thr1597=)
c.4344C>G (p.Thr1448=)
c.3681C>G (p.Thr1227=)
c.8196C>G (p.Thr2732=)
5g.13770760G=CA1528431172DNAH5c.9594C= (p.Thr3198=)
c.9549C= (p.Thr3183=)
n.306C=
c.9702C= (p.Thr3234=)
c.8607C= (p.Thr2869=)
c.4791C= (p.Thr1597=)
c.4344C= (p.Thr1448=)
c.3681C= (p.Thr1227=)
c.8196C= (p.Thr2732=)
5g.13770760G>TCA443535489DNAH5c.9594C>A (p.Thr3198=)
c.9549C>A (p.Thr3183=)
n.306C>A
c.9702C>A (p.Thr3234=)
c.8607C>A (p.Thr2869=)
c.4791C>A (p.Thr1597=)
c.4344C>A (p.Thr1448=)
c.3681C>A (p.Thr1227=)
c.8196C>A (p.Thr2732=)
 ClinVar dbSNP gnomAD v4
5g.13770761G>ACA359204129DNAH5c.9593C>T (p.Thr3198Ile)
c.9548C>T (p.Thr3183Ile)
n.305C>T
c.9701C>T (p.Thr3234Ile)
c.8606C>T (p.Thr2869Ile)
c.4790C>T (p.Thr1597Ile)
c.4343C>T (p.Thr1448Ile)
c.3680C>T (p.Thr1227Ile)
c.8195C>T (p.Thr2732Ile)
5g.13770761G>CCA359204131DNAH5c.9593C>G (p.Thr3198Ser)
c.9548C>G (p.Thr3183Ser)
n.305C>G
c.9701C>G (p.Thr3234Ser)
c.8606C>G (p.Thr2869Ser)
c.4790C>G (p.Thr1597Ser)
c.4343C>G (p.Thr1448Ser)
c.3680C>G (p.Thr1227Ser)
c.8195C>G (p.Thr2732Ser)
5g.13770761G>TCA359204132DNAH5c.9593C>A (p.Thr3198Asn)
c.9548C>A (p.Thr3183Asn)
n.305C>A
c.9701C>A (p.Thr3234Asn)
c.8606C>A (p.Thr2869Asn)
c.4790C>A (p.Thr1597Asn)
c.4343C>A (p.Thr1448Asn)
c.3680C>A (p.Thr1227Asn)
c.8195C>A (p.Thr2732Asn)
5g.13770762T>ACA359204134DNAH5c.9592A>T (p.Thr3198Ser)
c.9547A>T (p.Thr3183Ser)
n.304A>T
c.9700A>T (p.Thr3234Ser)
c.8605A>T (p.Thr2869Ser)
c.4789A>T (p.Thr1597Ser)
c.4342A>T (p.Thr1448Ser)
c.3679A>T (p.Thr1227Ser)
c.8194A>T (p.Thr2732Ser)
5g.13770762T>CCA359204136DNAH5c.9592A>G (p.Thr3198Ala)
c.9547A>G (p.Thr3183Ala)
n.304A>G
c.9700A>G (p.Thr3234Ala)
c.8605A>G (p.Thr2869Ala)
c.4789A>G (p.Thr1597Ala)
c.4342A>G (p.Thr1448Ala)
c.3679A>G (p.Thr1227Ala)
c.8194A>G (p.Thr2732Ala)
5g.13770762T>GCA359204137DNAH5c.9592A>C (p.Thr3198Pro)
c.9547A>C (p.Thr3183Pro)
n.304A>C
c.9700A>C (p.Thr3234Pro)
c.8605A>C (p.Thr2869Pro)
c.4789A>C (p.Thr1597Pro)
c.4342A>C (p.Thr1448Pro)
c.3679A>C (p.Thr1227Pro)
c.8194A>C (p.Thr2732Pro)
5g.13770763C>ACA443535490DNAH5c.9591G>T (p.Arg3197=)
c.9546G>T (p.Arg3182=)
n.303G>T
c.9699G>T (p.Arg3233=)
c.8604G>T (p.Arg2868=)
c.4788G>T (p.Arg1596=)
c.4341G>T (p.Arg1447=)
c.3678G>T (p.Arg1226=)
c.8193G>T (p.Arg2731=)
 COSMIC
5g.13770763C>GCA443535491DNAH5c.9591G>C (p.Arg3197=)
c.9546G>C (p.Arg3182=)
n.303G>C
c.9699G>C (p.Arg3233=)
c.8604G>C (p.Arg2868=)
c.4788G>C (p.Arg1596=)
c.4341G>C (p.Arg1447=)
c.3678G>C (p.Arg1226=)
c.8193G>C (p.Arg2731=)
 gnomAD v4
5g.13770763C>TCA443535492DNAH5c.9591G>A (p.Arg3197=)
c.9546G>A (p.Arg3182=)
n.303G>A
c.9699G>A (p.Arg3233=)
c.8604G>A (p.Arg2868=)
c.4788G>A (p.Arg1596=)
c.4341G>A (p.Arg1447=)
c.3678G>A (p.Arg1226=)
c.8193G>A (p.Arg2731=)
 COSMIC
5g.13770764C>ACA359204140DNAH5c.9590G>T (p.Arg3197Leu)
c.9545G>T (p.Arg3182Leu)
n.302G>T
c.9698G>T (p.Arg3233Leu)
c.8603G>T (p.Arg2868Leu)
c.4787G>T (p.Arg1596Leu)
c.4340G>T (p.Arg1447Leu)
c.3677G>T (p.Arg1226Leu)
c.8192G>T (p.Arg2731Leu)
5g.13770764C=CA1528431173DNAH5c.9590G= (p.Arg3197=)
c.9545G= (p.Arg3182=)
n.302G=
c.9698G= (p.Arg3233=)
c.8603G= (p.Arg2868=)
c.4787G= (p.Arg1596=)
c.4340G= (p.Arg1447=)
c.3677G= (p.Arg1226=)
c.8192G= (p.Arg2731=)
5g.13770764C>GCA359204141DNAH5c.9590G>C (p.Arg3197Pro)
c.9545G>C (p.Arg3182Pro)
n.302G>C
c.9698G>C (p.Arg3233Pro)
c.8603G>C (p.Arg2868Pro)
c.4787G>C (p.Arg1596Pro)
c.4340G>C (p.Arg1447Pro)
c.3677G>C (p.Arg1226Pro)
c.8192G>C (p.Arg2731Pro)
5g.13770764C>TCA3202507DNAH5c.9590G>A (p.Arg3197Gln)
c.9545G>A (p.Arg3182Gln)
n.302G>A
c.9698G>A (p.Arg3233Gln)
c.8603G>A (p.Arg2868Gln)
c.4787G>A (p.Arg1596Gln)
c.4340G>A (p.Arg1447Gln)
c.3677G>A (p.Arg1226Gln)
c.8192G>A (p.Arg2731Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770765G>ACA3202508DNAH5c.9589C>T (p.Arg3197Trp)
c.9544C>T (p.Arg3182Trp)
n.301C>T
c.9697C>T (p.Arg3233Trp)
c.8602C>T (p.Arg2868Trp)
c.4786C>T (p.Arg1596Trp)
c.4339C>T (p.Arg1447Trp)
c.3676C>T (p.Arg1226Trp)
c.8191C>T (p.Arg2731Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770765G>CCA359204143DNAH5c.9589C>G (p.Arg3197Gly)
c.9544C>G (p.Arg3182Gly)
n.301C>G
c.9697C>G (p.Arg3233Gly)
c.8602C>G (p.Arg2868Gly)
c.4786C>G (p.Arg1596Gly)
c.4339C>G (p.Arg1447Gly)
c.3676C>G (p.Arg1226Gly)
c.8191C>G (p.Arg2731Gly)
5g.13770765G=CA1528431174DNAH5c.9589C= (p.Arg3197=)
c.9544C= (p.Arg3182=)
n.301C=
c.9697C= (p.Arg3233=)
c.8602C= (p.Arg2868=)
c.4786C= (p.Arg1596=)
c.4339C= (p.Arg1447=)
c.3676C= (p.Arg1226=)
c.8191C= (p.Arg2731=)
5g.13770765G>TCA443535496DNAH5c.9589C>A (p.Arg3197=)
c.9544C>A (p.Arg3182=)
n.301C>A
c.9697C>A (p.Arg3233=)
c.8602C>A (p.Arg2868=)
c.4786C>A (p.Arg1596=)
c.4339C>A (p.Arg1447=)
c.3676C>A (p.Arg1226=)
c.8191C>A (p.Arg2731=)
5g.13770766C>ACA443535499DNAH5c.9588G>T (p.Val3196=)
c.9543G>T (p.Val3181=)
n.300G>T
c.9696G>T (p.Val3232=)
c.8601G>T (p.Val2867=)
c.4785G>T (p.Val1595=)
c.4338G>T (p.Val1446=)
c.3675G>T (p.Val1225=)
c.8190G>T (p.Val2730=)
5g.13770766C>GCA443535497DNAH5c.9588G>C (p.Val3196=)
c.9543G>C (p.Val3181=)
n.300G>C
c.9696G>C (p.Val3232=)
c.8601G>C (p.Val2867=)
c.4785G>C (p.Val1595=)
c.4338G>C (p.Val1446=)
c.3675G>C (p.Val1225=)
c.8190G>C (p.Val2730=)
5g.13770766C>TCA443535498DNAH5c.9588G>A (p.Val3196=)
c.9543G>A (p.Val3181=)
n.300G>A
c.9696G>A (p.Val3232=)
c.8601G>A (p.Val2867=)
c.4785G>A (p.Val1595=)
c.4338G>A (p.Val1446=)
c.3675G>A (p.Val1225=)
c.8190G>A (p.Val2730=)
 ClinVar
5g.13770767delCA2673270114DNAH5c.9587del (p.Val3196GlyfsTer8)
c.9542del (p.Val3181GlyfsTer8)
n.299del
c.9695del (p.Val3232GlyfsTer8)
c.8600del (p.Val2867GlyfsTer8)
c.9695del (p.Val3232GlyfsTer?)
c.4784del (p.Val1595GlyfsTer8)
c.4337del (p.Val1446GlyfsTer8)
c.3674del (p.Val1225GlyfsTer8)
c.8189del (p.Val2730GlyfsTer8)
 gnomAD v4
5g.13770767A>CCA359204144DNAH5c.9587T>G (p.Val3196Gly)
c.9542T>G (p.Val3181Gly)
n.299T>G
c.9695T>G (p.Val3232Gly)
c.8600T>G (p.Val2867Gly)
c.4784T>G (p.Val1595Gly)
c.4337T>G (p.Val1446Gly)
c.3674T>G (p.Val1225Gly)
c.8189T>G (p.Val2730Gly)
5g.13770767A>GCA359204145DNAH5c.9587T>C (p.Val3196Ala)
c.9542T>C (p.Val3181Ala)
n.299T>C
c.9695T>C (p.Val3232Ala)
c.8600T>C (p.Val2867Ala)
c.4784T>C (p.Val1595Ala)
c.4337T>C (p.Val1446Ala)
c.3674T>C (p.Val1225Ala)
c.8189T>C (p.Val2730Ala)
 gnomAD v4
5g.13770767A>TCA359204147DNAH5c.9587T>A (p.Val3196Glu)
c.9542T>A (p.Val3181Glu)
n.299T>A
c.9695T>A (p.Val3232Glu)
c.8600T>A (p.Val2867Glu)
c.4784T>A (p.Val1595Glu)
c.4337T>A (p.Val1446Glu)
c.3674T>A (p.Val1225Glu)
c.8189T>A (p.Val2730Glu)
5g.13770768C>ACA359204149DNAH5c.9586G>T (p.Val3196Leu)
c.9541G>T (p.Val3181Leu)
n.298G>T
c.9694G>T (p.Val3232Leu)
c.8599G>T (p.Val2867Leu)
c.4783G>T (p.Val1595Leu)
c.4336G>T (p.Val1446Leu)
c.3673G>T (p.Val1225Leu)
c.8188G>T (p.Val2730Leu)
5g.13770768C=CA1528431175DNAH5c.9586G= (p.Val3196=)
c.9541G= (p.Val3181=)
n.298G=
c.9694G= (p.Val3232=)
c.8599G= (p.Val2867=)
c.4783G= (p.Val1595=)
c.4336G= (p.Val1446=)
c.3673G= (p.Val1225=)
c.8188G= (p.Val2730=)
5g.13770768C>GCA359204153DNAH5c.9586G>C (p.Val3196Leu)
c.9541G>C (p.Val3181Leu)
n.298G>C
c.9694G>C (p.Val3232Leu)
c.8599G>C (p.Val2867Leu)
c.4783G>C (p.Val1595Leu)
c.4336G>C (p.Val1446Leu)
c.3673G>C (p.Val1225Leu)
c.8188G>C (p.Val2730Leu)
5g.13770768C>TCA3202509DNAH5c.9586G>A (p.Val3196Met)
c.9541G>A (p.Val3181Met)
n.298G>A
c.9694G>A (p.Val3232Met)
c.8599G>A (p.Val2867Met)
c.4783G>A (p.Val1595Met)
c.4336G>A (p.Val1446Met)
c.3673G>A (p.Val1225Met)
c.8188G>A (p.Val2730Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770769C>ACA359204158DNAH5c.9585G>T (p.Glu3195Asp)
c.9540G>T (p.Glu3180Asp)
n.297G>T
c.9693G>T (p.Glu3231Asp)
c.8598G>T (p.Glu2866Asp)
c.4782G>T (p.Glu1594Asp)
c.4335G>T (p.Glu1445Asp)
c.3672G>T (p.Glu1224Asp)
c.8187G>T (p.Glu2729Asp)
5g.13770769C>GCA359204161DNAH5c.9585G>C (p.Glu3195Asp)
c.9540G>C (p.Glu3180Asp)
n.297G>C
c.9693G>C (p.Glu3231Asp)
c.8598G>C (p.Glu2866Asp)
c.4782G>C (p.Glu1594Asp)
c.4335G>C (p.Glu1445Asp)
c.3672G>C (p.Glu1224Asp)
c.8187G>C (p.Glu2729Asp)
 gnomAD v4
5g.13770769C>TCA443535503DNAH5c.9585G>A (p.Glu3195=)
c.9540G>A (p.Glu3180=)
n.297G>A
c.9693G>A (p.Glu3231=)
c.8598G>A (p.Glu2866=)
c.4782G>A (p.Glu1594=)
c.4335G>A (p.Glu1445=)
c.3672G>A (p.Glu1224=)
c.8187G>A (p.Glu2729=)
5g.13770770T>ACA359204167DNAH5c.9584A>T (p.Glu3195Val)
c.9539A>T (p.Glu3180Val)
n.296A>T
c.9692A>T (p.Glu3231Val)
c.8597A>T (p.Glu2866Val)
c.4781A>T (p.Glu1594Val)
c.4334A>T (p.Glu1445Val)
c.3671A>T (p.Glu1224Val)
c.8186A>T (p.Glu2729Val)
5g.13770770T>CCA359204169DNAH5c.9584A>G (p.Glu3195Gly)
c.9539A>G (p.Glu3180Gly)
n.296A>G
c.9692A>G (p.Glu3231Gly)
c.8597A>G (p.Glu2866Gly)
c.4781A>G (p.Glu1594Gly)
c.4334A>G (p.Glu1445Gly)
c.3671A>G (p.Glu1224Gly)
c.8186A>G (p.Glu2729Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.13770770T>GCA359204171DNAH5c.9584A>C (p.Glu3195Ala)
c.9539A>C (p.Glu3180Ala)
n.296A>C
c.9692A>C (p.Glu3231Ala)
c.8597A>C (p.Glu2866Ala)
c.4781A>C (p.Glu1594Ala)
c.4334A>C (p.Glu1445Ala)
c.3671A>C (p.Glu1224Ala)
c.8186A>C (p.Glu2729Ala)
5g.13770770T=CA1528431176DNAH5c.9584A= (p.Glu3195=)
c.9539A= (p.Glu3180=)
n.296A=
c.9692A= (p.Glu3231=)
c.8597A= (p.Glu2866=)
c.4781A= (p.Glu1594=)
c.4334A= (p.Glu1445=)
c.3671A= (p.Glu1224=)
c.8186A= (p.Glu2729=)
5g.13770771C>ACA359204179DNAH5c.9583G>T (p.Glu3195Ter)
c.9538G>T (p.Glu3180Ter)
n.295G>T
c.9691G>T (p.Glu3231Ter)
c.8596G>T (p.Glu2866Ter)
c.4780G>T (p.Glu1594Ter)
c.4333G>T (p.Glu1445Ter)
c.3670G>T (p.Glu1224Ter)
c.8185G>T (p.Glu2729Ter)
5g.13770771C=CA1528431177DNAH5c.9583G= (p.Glu3195=)
c.9538G= (p.Glu3180=)
n.295G=
c.9691G= (p.Glu3231=)
c.8596G= (p.Glu2866=)
c.4780G= (p.Glu1594=)
c.4333G= (p.Glu1445=)
c.3670G= (p.Glu1224=)
c.8185G= (p.Glu2729=)
5g.13770771C>GCA359204176DNAH5c.9583G>C (p.Glu3195Gln)
c.9538G>C (p.Glu3180Gln)
n.295G>C
c.9691G>C (p.Glu3231Gln)
c.8596G>C (p.Glu2866Gln)
c.4780G>C (p.Glu1594Gln)
c.4333G>C (p.Glu1445Gln)
c.3670G>C (p.Glu1224Gln)
c.8185G>C (p.Glu2729Gln)
5g.13770771C>TCA359204174DNAH5c.9583G>A (p.Glu3195Lys)
c.9538G>A (p.Glu3180Lys)
n.295G>A
c.9691G>A (p.Glu3231Lys)
c.8596G>A (p.Glu2866Lys)
c.4780G>A (p.Glu1594Lys)
c.4333G>A (p.Glu1445Lys)
c.3670G>A (p.Glu1224Lys)
c.8185G>A (p.Glu2729Lys)
 dbSNP
5g.13770772C>ACA443535509DNAH5c.9582G>T (p.Val3194=)
c.9537G>T (p.Val3179=)
n.294G>T
c.9690G>T (p.Val3230=)
c.8595G>T (p.Val2865=)
c.4779G>T (p.Val1593=)
c.4332G>T (p.Val1444=)
c.3669G>T (p.Val1223=)
c.8184G>T (p.Val2728=)
5g.13770772C>GCA443535507DNAH5c.9582G>C (p.Val3194=)
c.9537G>C (p.Val3179=)
n.294G>C
c.9690G>C (p.Val3230=)
c.8595G>C (p.Val2865=)
c.4779G>C (p.Val1593=)
c.4332G>C (p.Val1444=)
c.3669G>C (p.Val1223=)
c.8184G>C (p.Val2728=)
5g.13770772C>TCA443535508DNAH5c.9582G>A (p.Val3194=)
c.9537G>A (p.Val3179=)
n.294G>A
c.9690G>A (p.Val3230=)
c.8595G>A (p.Val2865=)
c.4779G>A (p.Val1593=)
c.4332G>A (p.Val1444=)
c.3669G>A (p.Val1223=)
c.8184G>A (p.Val2728=)
5g.13770773A>CCA359204182DNAH5c.9581T>G (p.Val3194Gly)
c.9536T>G (p.Val3179Gly)
n.293T>G
c.9689T>G (p.Val3230Gly)
c.8594T>G (p.Val2865Gly)
c.4778T>G (p.Val1593Gly)
c.4331T>G (p.Val1444Gly)
c.3668T>G (p.Val1223Gly)
c.8183T>G (p.Val2728Gly)
5g.13770773A>GCA359204186DNAH5c.9581T>C (p.Val3194Ala)
c.9536T>C (p.Val3179Ala)
n.293T>C
c.9689T>C (p.Val3230Ala)
c.8594T>C (p.Val2865Ala)
c.4778T>C (p.Val1593Ala)
c.4331T>C (p.Val1444Ala)
c.3668T>C (p.Val1223Ala)
c.8183T>C (p.Val2728Ala)
5g.13770773A>TCA359204185DNAH5c.9581T>A (p.Val3194Glu)
c.9536T>A (p.Val3179Glu)
n.293T>A
c.9689T>A (p.Val3230Glu)
c.8594T>A (p.Val2865Glu)
c.4778T>A (p.Val1593Glu)
c.4331T>A (p.Val1444Glu)
c.3668T>A (p.Val1223Glu)
c.8183T>A (p.Val2728Glu)
5g.13770774C>ACA359204187DNAH5c.9580G>T (p.Val3194Leu)
c.9535G>T (p.Val3179Leu)
n.292G>T
c.9688G>T (p.Val3230Leu)
c.8593G>T (p.Val2865Leu)
c.4777G>T (p.Val1593Leu)
c.4330G>T (p.Val1444Leu)
c.3667G>T (p.Val1223Leu)
c.8182G>T (p.Val2728Leu)
 ClinVar dbSNP
5g.13770774C>GCA359204189DNAH5c.9580G>C (p.Val3194Leu)
c.9535G>C (p.Val3179Leu)
n.292G>C
c.9688G>C (p.Val3230Leu)
c.8593G>C (p.Val2865Leu)
c.4777G>C (p.Val1593Leu)
c.4330G>C (p.Val1444Leu)
c.3667G>C (p.Val1223Leu)
c.8182G>C (p.Val2728Leu)
5g.13770774C>TCA359204188DNAH5c.9580G>A (p.Val3194Met)
c.9535G>A (p.Val3179Met)
n.292G>A
c.9688G>A (p.Val3230Met)
c.8593G>A (p.Val2865Met)
c.4777G>A (p.Val1593Met)
c.4330G>A (p.Val1444Met)
c.3667G>A (p.Val1223Met)
c.8182G>A (p.Val2728Met)
5g.13770775A=CA1528431178DNAH5c.9579T= (p.His3193=)
c.9534T= (p.His3178=)
n.291T=
c.9687T= (p.His3229=)
c.8592T= (p.His2864=)
c.4776T= (p.His1592=)
c.4329T= (p.His1443=)
c.3666T= (p.His1222=)
c.8181T= (p.His2727=)
5g.13770775A>CCA359204190DNAH5c.9579T>G (p.His3193Gln)
c.9534T>G (p.His3178Gln)
n.291T>G
c.9687T>G (p.His3229Gln)
c.8592T>G (p.His2864Gln)
c.4776T>G (p.His1592Gln)
c.4329T>G (p.His1443Gln)
c.3666T>G (p.His1222Gln)
c.8181T>G (p.His2727Gln)
 gnomAD v4 COSMIC
5g.13770775A>GCA3202510DNAH5c.9579T>C (p.His3193=)
c.9534T>C (p.His3178=)
n.291T>C
c.9687T>C (p.His3229=)
c.8592T>C (p.His2864=)
c.4776T>C (p.His1592=)
c.4329T>C (p.His1443=)
c.3666T>C (p.His1222=)
c.8181T>C (p.His2727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770775A>TCA359204193DNAH5c.9579T>A (p.His3193Gln)
c.9534T>A (p.His3178Gln)
n.291T>A
c.9687T>A (p.His3229Gln)
c.8592T>A (p.His2864Gln)
c.4776T>A (p.His1592Gln)
c.4329T>A (p.His1443Gln)
c.3666T>A (p.His1222Gln)
c.8181T>A (p.His2727Gln)
5g.13770776T>ACA359204196DNAH5c.9578A>T (p.His3193Leu)
c.9533A>T (p.His3178Leu)
n.290A>T
c.9686A>T (p.His3229Leu)
c.8591A>T (p.His2864Leu)
c.4775A>T (p.His1592Leu)
c.4328A>T (p.His1443Leu)
c.3665A>T (p.His1222Leu)
c.8180A>T (p.His2727Leu)
5g.13770776T>CCA3202511DNAH5c.9578A>G (p.His3193Arg)
c.9533A>G (p.His3178Arg)
n.290A>G
c.9686A>G (p.His3229Arg)
c.8591A>G (p.His2864Arg)
c.4775A>G (p.His1592Arg)
c.4328A>G (p.His1443Arg)
c.3665A>G (p.His1222Arg)
c.8180A>G (p.His2727Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770776T>GCA359204199DNAH5c.9578A>C (p.His3193Pro)
c.9533A>C (p.His3178Pro)
n.290A>C
c.9686A>C (p.His3229Pro)
c.8591A>C (p.His2864Pro)
c.4775A>C (p.His1592Pro)
c.4328A>C (p.His1443Pro)
c.3665A>C (p.His1222Pro)
c.8180A>C (p.His2727Pro)
 gnomAD v4
5g.13770776T=CA1528431179DNAH5c.9578A= (p.His3193=)
c.9533A= (p.His3178=)
n.290A=
c.9686A= (p.His3229=)
c.8591A= (p.His2864=)
c.4775A= (p.His1592=)
c.4328A= (p.His1443=)
c.3665A= (p.His1222=)
c.8180A= (p.His2727=)
5g.13770777G>ACA359204201DNAH5c.9577C>T (p.His3193Tyr)
c.9532C>T (p.His3178Tyr)
n.289C>T
c.9685C>T (p.His3229Tyr)
c.8590C>T (p.His2864Tyr)
c.4774C>T (p.His1592Tyr)
c.4327C>T (p.His1443Tyr)
c.3664C>T (p.His1222Tyr)
c.8179C>T (p.His2727Tyr)
5g.13770777G>CCA359204203DNAH5c.9577C>G (p.His3193Asp)
c.9532C>G (p.His3178Asp)
n.289C>G
c.9685C>G (p.His3229Asp)
c.8590C>G (p.His2864Asp)
c.4774C>G (p.His1592Asp)
c.4327C>G (p.His1443Asp)
c.3664C>G (p.His1222Asp)
c.8179C>G (p.His2727Asp)
5g.13770777G>TCA359204205DNAH5c.9577C>A (p.His3193Asn)
c.9532C>A (p.His3178Asn)
n.289C>A
c.9685C>A (p.His3229Asn)
c.8590C>A (p.His2864Asn)
c.4774C>A (p.His1592Asn)
c.4327C>A (p.His1443Asn)
c.3664C>A (p.His1222Asn)
c.8179C>A (p.His2727Asn)
5g.13770778C>ACA359204208DNAH5c.9576G>T (p.Lys3192Asn)
c.9531G>T (p.Lys3177Asn)
n.288G>T
c.9684G>T (p.Lys3228Asn)
c.8589G>T (p.Lys2863Asn)
c.4773G>T (p.Lys1591Asn)
c.4326G>T (p.Lys1442Asn)
c.3663G>T (p.Lys1221Asn)
c.8178G>T (p.Lys2726Asn)
5g.13770778C=CA1528431180DNAH5c.9576G= (p.Lys3192=)
c.9531G= (p.Lys3177=)
n.288G=
c.9684G= (p.Lys3228=)
c.8589G= (p.Lys2863=)
c.4773G= (p.Lys1591=)
c.4326G= (p.Lys1442=)
c.3663G= (p.Lys1221=)
c.8178G= (p.Lys2726=)
5g.13770778C>GCA359204209DNAH5c.9576G>C (p.Lys3192Asn)
c.9531G>C (p.Lys3177Asn)
n.288G>C
c.9684G>C (p.Lys3228Asn)
c.8589G>C (p.Lys2863Asn)
c.4773G>C (p.Lys1591Asn)
c.4326G>C (p.Lys1442Asn)
c.3663G>C (p.Lys1221Asn)
c.8178G>C (p.Lys2726Asn)
5g.13770778C>TCA443535513DNAH5c.9576G>A (p.Lys3192=)
c.9531G>A (p.Lys3177=)
n.288G>A
c.9684G>A (p.Lys3228=)
c.8589G>A (p.Lys2863=)
c.4773G>A (p.Lys1591=)
c.4326G>A (p.Lys1442=)
c.3663G>A (p.Lys1221=)
c.8178G>A (p.Lys2726=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13770779T>ACA359204214DNAH5c.9575A>T (p.Lys3192Met)
c.9530A>T (p.Lys3177Met)
n.287A>T
c.9683A>T (p.Lys3228Met)
c.8588A>T (p.Lys2863Met)
c.4772A>T (p.Lys1591Met)
c.4325A>T (p.Lys1442Met)
c.3662A>T (p.Lys1221Met)
c.8177A>T (p.Lys2726Met)
5g.13770779T>CCA3202512DNAH5c.9575A>G (p.Lys3192Arg)
c.9530A>G (p.Lys3177Arg)
n.287A>G
c.9683A>G (p.Lys3228Arg)
c.8588A>G (p.Lys2863Arg)
c.4772A>G (p.Lys1591Arg)
c.4325A>G (p.Lys1442Arg)
c.3662A>G (p.Lys1221Arg)
c.8177A>G (p.Lys2726Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770779T>GCA359204210DNAH5c.9575A>C (p.Lys3192Thr)
c.9530A>C (p.Lys3177Thr)
n.287A>C
c.9683A>C (p.Lys3228Thr)
c.8588A>C (p.Lys2863Thr)
c.4772A>C (p.Lys1591Thr)
c.4325A>C (p.Lys1442Thr)
c.3662A>C (p.Lys1221Thr)
c.8177A>C (p.Lys2726Thr)
5g.13770779T=CA1528431181DNAH5c.9575A= (p.Lys3192=)
c.9530A= (p.Lys3177=)
n.287A=
c.9683A= (p.Lys3228=)
c.8588A= (p.Lys2863=)
c.4772A= (p.Lys1591=)
c.4325A= (p.Lys1442=)
c.3662A= (p.Lys1221=)
c.8177A= (p.Lys2726=)
5g.13770780T>ACA359204219DNAH5c.9574A>T (p.Lys3192Ter)
c.9529A>T (p.Lys3177Ter)
n.286A>T
c.9682A>T (p.Lys3228Ter)
c.8587A>T (p.Lys2863Ter)
c.4771A>T (p.Lys1591Ter)
c.4324A>T (p.Lys1442Ter)
c.3661A>T (p.Lys1221Ter)
c.8176A>T (p.Lys2726Ter)
5g.13770780T>CCA359204221DNAH5c.9574A>G (p.Lys3192Glu)
c.9529A>G (p.Lys3177Glu)
n.286A>G
c.9682A>G (p.Lys3228Glu)
c.8587A>G (p.Lys2863Glu)
c.4771A>G (p.Lys1591Glu)
c.4324A>G (p.Lys1442Glu)
c.3661A>G (p.Lys1221Glu)
c.8176A>G (p.Lys2726Glu)
5g.13770780T>GCA359204222DNAH5c.9574A>C (p.Lys3192Gln)
c.9529A>C (p.Lys3177Gln)
n.286A>C
c.9682A>C (p.Lys3228Gln)
c.8587A>C (p.Lys2863Gln)
c.4771A>C (p.Lys1591Gln)
c.4324A>C (p.Lys1442Gln)
c.3661A>C (p.Lys1221Gln)
c.8176A>C (p.Lys2726Gln)
5g.13770781T>ACA359204226DNAH5c.9573A>T (p.Glu3191Asp)
c.9528A>T (p.Glu3176Asp)
n.285A>T
c.9681A>T (p.Glu3227Asp)
c.8586A>T (p.Glu2862Asp)
c.4770A>T (p.Glu1590Asp)
c.4323A>T (p.Glu1441Asp)
c.3660A>T (p.Glu1220Asp)
c.8175A>T (p.Glu2725Asp)
5g.13770781T>CCA3202513DNAH5c.9573A>G (p.Glu3191=)
c.9528A>G (p.Glu3176=)
n.285A>G
c.9681A>G (p.Glu3227=)
c.8586A>G (p.Glu2862=)
c.4770A>G (p.Glu1590=)
c.4323A>G (p.Glu1441=)
c.3660A>G (p.Glu1220=)
c.8175A>G (p.Glu2725=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770781T>GCA359204229DNAH5c.9573A>C (p.Glu3191Asp)
c.9528A>C (p.Glu3176Asp)
n.285A>C
c.9681A>C (p.Glu3227Asp)
c.8586A>C (p.Glu2862Asp)
c.4770A>C (p.Glu1590Asp)
c.4323A>C (p.Glu1441Asp)
c.3660A>C (p.Glu1220Asp)
c.8175A>C (p.Glu2725Asp)
5g.13770781T=CA1528431182DNAH5c.9573A= (p.Glu3191=)
c.9528A= (p.Glu3176=)
n.285A=
c.9681A= (p.Glu3227=)
c.8586A= (p.Glu2862=)
c.4770A= (p.Glu1590=)
c.4323A= (p.Glu1441=)
c.3660A= (p.Glu1220=)
c.8175A= (p.Glu2725=)
5g.13770782T>ACA359204231DNAH5c.9572A>T (p.Glu3191Val)
c.9527A>T (p.Glu3176Val)
n.284A>T
c.9680A>T (p.Glu3227Val)
c.8585A>T (p.Glu2862Val)
c.4769A>T (p.Glu1590Val)
c.4322A>T (p.Glu1441Val)
c.3659A>T (p.Glu1220Val)
c.8174A>T (p.Glu2725Val)
5g.13770782T>CCA359204236DNAH5c.9572A>G (p.Glu3191Gly)
c.9527A>G (p.Glu3176Gly)
n.284A>G
c.9680A>G (p.Glu3227Gly)
c.8585A>G (p.Glu2862Gly)
c.4769A>G (p.Glu1590Gly)
c.4322A>G (p.Glu1441Gly)
c.3659A>G (p.Glu1220Gly)
c.8174A>G (p.Glu2725Gly)
5g.13770782T>GCA359204234DNAH5c.9572A>C (p.Glu3191Ala)
c.9527A>C (p.Glu3176Ala)
n.284A>C
c.9680A>C (p.Glu3227Ala)
c.8585A>C (p.Glu2862Ala)
c.4769A>C (p.Glu1590Ala)
c.4322A>C (p.Glu1441Ala)
c.3659A>C (p.Glu1220Ala)
c.8174A>C (p.Glu2725Ala)
5g.13770783C>ACA359204238DNAH5c.9571G>T (p.Glu3191Ter)
c.9526G>T (p.Glu3176Ter)
n.283G>T
c.9679G>T (p.Glu3227Ter)
c.8584G>T (p.Glu2862Ter)
c.4768G>T (p.Glu1590Ter)
c.4321G>T (p.Glu1441Ter)
c.3658G>T (p.Glu1220Ter)
c.8173G>T (p.Glu2725Ter)
5g.13770783C>GCA359204243DNAH5c.9571G>C (p.Glu3191Gln)
c.9526G>C (p.Glu3176Gln)
n.283G>C
c.9679G>C (p.Glu3227Gln)
c.8584G>C (p.Glu2862Gln)
c.4768G>C (p.Glu1590Gln)
c.4321G>C (p.Glu1441Gln)
c.3658G>C (p.Glu1220Gln)
c.8173G>C (p.Glu2725Gln)
5g.13770783C>TCA359204246DNAH5c.9571G>A (p.Glu3191Lys)
c.9526G>A (p.Glu3176Lys)
n.283G>A
c.9679G>A (p.Glu3227Lys)
c.8584G>A (p.Glu2862Lys)
c.4768G>A (p.Glu1590Lys)
c.4321G>A (p.Glu1441Lys)
c.3658G>A (p.Glu1220Lys)
c.8173G>A (p.Glu2725Lys)
5g.13770784T>ACA443535519DNAH5c.9570A>T (p.Gly3190=)
c.9525A>T (p.Gly3175=)
n.282A>T
c.9678A>T (p.Gly3226=)
c.8583A>T (p.Gly2861=)
c.4767A>T (p.Gly1589=)
c.4320A>T (p.Gly1440=)
c.3657A>T (p.Gly1219=)
c.8172A>T (p.Gly2724=)
5g.13770784T>CCA443535520DNAH5c.9570A>G (p.Gly3190=)
c.9525A>G (p.Gly3175=)
n.282A>G
c.9678A>G (p.Gly3226=)
c.8583A>G (p.Gly2861=)
c.4767A>G (p.Gly1589=)
c.4320A>G (p.Gly1440=)
c.3657A>G (p.Gly1219=)
c.8172A>G (p.Gly2724=)
5g.13770784T>GCA443535521DNAH5c.9570A>C (p.Gly3190=)
c.9525A>C (p.Gly3175=)
n.282A>C
c.9678A>C (p.Gly3226=)
c.8583A>C (p.Gly2861=)
c.4767A>C (p.Gly1589=)
c.4320A>C (p.Gly1440=)
c.3657A>C (p.Gly1219=)
c.8172A>C (p.Gly2724=)
5g.13770785C>ACA359204249DNAH5c.9569G>T (p.Gly3190Val)
c.9524G>T (p.Gly3175Val)
n.281G>T
c.9677G>T (p.Gly3226Val)
c.8582G>T (p.Gly2861Val)
c.4766G>T (p.Gly1589Val)
c.4319G>T (p.Gly1440Val)
c.3656G>T (p.Gly1219Val)
c.8171G>T (p.Gly2724Val)
 dbSNP
5g.13770785C=CA1528431183DNAH5c.9569G= (p.Gly3190=)
c.9524G= (p.Gly3175=)
n.281G=
c.9677G= (p.Gly3226=)
c.8582G= (p.Gly2861=)
c.4766G= (p.Gly1589=)
c.4319G= (p.Gly1440=)
c.3656G= (p.Gly1219=)
c.8171G= (p.Gly2724=)
5g.13770785C>GCA359204256DNAH5c.9569G>C (p.Gly3190Ala)
c.9524G>C (p.Gly3175Ala)
n.281G>C
c.9677G>C (p.Gly3226Ala)
c.8582G>C (p.Gly2861Ala)
c.4766G>C (p.Gly1589Ala)
c.4319G>C (p.Gly1440Ala)
c.3656G>C (p.Gly1219Ala)
c.8171G>C (p.Gly2724Ala)
5g.13770785C>TCA359204257DNAH5c.9569G>A (p.Gly3190Glu)
c.9524G>A (p.Gly3175Glu)
n.281G>A
c.9677G>A (p.Gly3226Glu)
c.8582G>A (p.Gly2861Glu)
c.4766G>A (p.Gly1589Glu)
c.4319G>A (p.Gly1440Glu)
c.3656G>A (p.Gly1219Glu)
c.8171G>A (p.Gly2724Glu)
5g.13770786C>ACA359204258DNAH5c.9568G>T (p.Gly3190Ter)
c.9523G>T (p.Gly3175Ter)
n.280G>T
c.9676G>T (p.Gly3226Ter)
c.8581G>T (p.Gly2861Ter)
c.4765G>T (p.Gly1589Ter)
c.4318G>T (p.Gly1440Ter)
c.3655G>T (p.Gly1219Ter)
c.8170G>T (p.Gly2724Ter)
5g.13770786C>GCA359204259DNAH5c.9568G>C (p.Gly3190Arg)
c.9523G>C (p.Gly3175Arg)
n.280G>C
c.9676G>C (p.Gly3226Arg)
c.8581G>C (p.Gly2861Arg)
c.4765G>C (p.Gly1589Arg)
c.4318G>C (p.Gly1440Arg)
c.3655G>C (p.Gly1219Arg)
c.8170G>C (p.Gly2724Arg)
5g.13770786C>TCA359204261DNAH5c.9568G>A (p.Gly3190Arg)
c.9523G>A (p.Gly3175Arg)
n.280G>A
c.9676G>A (p.Gly3226Arg)
c.8581G>A (p.Gly2861Arg)
c.4765G>A (p.Gly1589Arg)
c.4318G>A (p.Gly1440Arg)
c.3655G>A (p.Gly1219Arg)
c.8170G>A (p.Gly2724Arg)
 COSMIC
5g.13770787A>CCA359204263DNAH5c.9567T>G (p.Tyr3189Ter)
c.9522T>G (p.Tyr3174Ter)
n.279T>G
c.9675T>G (p.Tyr3225Ter)
c.8580T>G (p.Tyr2860Ter)
c.4764T>G (p.Tyr1588Ter)
c.4317T>G (p.Tyr1439Ter)
c.3654T>G (p.Tyr1218Ter)
c.8169T>G (p.Tyr2723Ter)
5g.13770787A>GCA443535524DNAH5c.9567T>C (p.Tyr3189=)
c.9522T>C (p.Tyr3174=)
n.279T>C
c.9675T>C (p.Tyr3225=)
c.8580T>C (p.Tyr2860=)
c.4764T>C (p.Tyr1588=)
c.4317T>C (p.Tyr1439=)
c.3654T>C (p.Tyr1218=)
c.8169T>C (p.Tyr2723=)
 gnomAD v4
5g.13770787A>TCA359204269DNAH5c.9567T>A (p.Tyr3189Ter)
c.9522T>A (p.Tyr3174Ter)
n.279T>A
c.9675T>A (p.Tyr3225Ter)
c.8580T>A (p.Tyr2860Ter)
c.4764T>A (p.Tyr1588Ter)
c.4317T>A (p.Tyr1439Ter)
c.3654T>A (p.Tyr1218Ter)
c.8169T>A (p.Tyr2723Ter)
5g.13770788T>ACA359204270DNAH5c.9566A>T (p.Tyr3189Phe)
c.9521A>T (p.Tyr3174Phe)
n.278A>T
c.9674A>T (p.Tyr3225Phe)
c.8579A>T (p.Tyr2860Phe)
c.4763A>T (p.Tyr1588Phe)
c.4316A>T (p.Tyr1439Phe)
c.3653A>T (p.Tyr1218Phe)
c.8168A>T (p.Tyr2723Phe)
5g.13770788T>CCA359204273DNAH5c.9566A>G (p.Tyr3189Cys)
c.9521A>G (p.Tyr3174Cys)
n.278A>G
c.9674A>G (p.Tyr3225Cys)
c.8579A>G (p.Tyr2860Cys)
c.4763A>G (p.Tyr1588Cys)
c.4316A>G (p.Tyr1439Cys)
c.3653A>G (p.Tyr1218Cys)
c.8168A>G (p.Tyr2723Cys)
 gnomAD v4
5g.13770788T>GCA359204271DNAH5c.9566A>C (p.Tyr3189Ser)
c.9521A>C (p.Tyr3174Ser)
n.278A>C
c.9674A>C (p.Tyr3225Ser)
c.8579A>C (p.Tyr2860Ser)
c.4763A>C (p.Tyr1588Ser)
c.4316A>C (p.Tyr1439Ser)
c.3653A>C (p.Tyr1218Ser)
c.8168A>C (p.Tyr2723Ser)
5g.13770789A=CA1528431184DNAH5c.9565T= (p.Tyr3189=)
c.9520T= (p.Tyr3174=)
n.277T=
c.9673T= (p.Tyr3225=)
c.8578T= (p.Tyr2860=)
c.4762T= (p.Tyr1588=)
c.4315T= (p.Tyr1439=)
c.3652T= (p.Tyr1218=)
c.8167T= (p.Tyr2723=)
5g.13770789A>CCA3202514DNAH5c.9565T>G (p.Tyr3189Asp)
c.9520T>G (p.Tyr3174Asp)
n.277T>G
c.9673T>G (p.Tyr3225Asp)
c.8578T>G (p.Tyr2860Asp)
c.4762T>G (p.Tyr1588Asp)
c.4315T>G (p.Tyr1439Asp)
c.3652T>G (p.Tyr1218Asp)
c.8167T>G (p.Tyr2723Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770789A>GCA3202515DNAH5c.9565T>C (p.Tyr3189His)
c.9520T>C (p.Tyr3174His)
n.277T>C
c.9673T>C (p.Tyr3225His)
c.8578T>C (p.Tyr2860His)
c.4762T>C (p.Tyr1588His)
c.4315T>C (p.Tyr1439His)
c.3652T>C (p.Tyr1218His)
c.8167T>C (p.Tyr2723His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770789A>TCA359204284DNAH5c.9565T>A (p.Tyr3189Asn)
c.9520T>A (p.Tyr3174Asn)
n.277T>A
c.9673T>A (p.Tyr3225Asn)
c.8578T>A (p.Tyr2860Asn)
c.4762T>A (p.Tyr1588Asn)
c.4315T>A (p.Tyr1439Asn)
c.3652T>A (p.Tyr1218Asn)
c.8167T>A (p.Tyr2723Asn)
5g.13770790T>ACA3202516DNAH5c.9564A>T (p.Ile3188=)
c.9519A>T (p.Ile3173=)
n.276A>T
c.9672A>T (p.Ile3224=)
c.8577A>T (p.Ile2859=)
c.4761A>T (p.Ile1587=)
c.4314A>T (p.Ile1438=)
c.3651A>T (p.Ile1217=)
c.8166A>T (p.Ile2722=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770790T>CCA359204289DNAH5c.9564A>G (p.Ile3188Met)
c.9519A>G (p.Ile3173Met)
n.276A>G
c.9672A>G (p.Ile3224Met)
c.8577A>G (p.Ile2859Met)
c.4761A>G (p.Ile1587Met)
c.4314A>G (p.Ile1438Met)
c.3651A>G (p.Ile1217Met)
c.8166A>G (p.Ile2722Met)
 dbSNP gnomAD v3 gnomAD v4
5g.13770790T>GCA443535528DNAH5c.9564A>C (p.Ile3188=)
c.9519A>C (p.Ile3173=)
n.276A>C
c.9672A>C (p.Ile3224=)
c.8577A>C (p.Ile2859=)
c.4761A>C (p.Ile1587=)
c.4314A>C (p.Ile1438=)
c.3651A>C (p.Ile1217=)
c.8166A>C (p.Ile2722=)
5g.13770790T=CA1528431185DNAH5c.9564A= (p.Ile3188=)
c.9519A= (p.Ile3173=)
n.276A=
c.9672A= (p.Ile3224=)
c.8577A= (p.Ile2859=)
c.4761A= (p.Ile1587=)
c.4314A= (p.Ile1438=)
c.3651A= (p.Ile1217=)
c.8166A= (p.Ile2722=)
5g.13770791A>CCA359204291DNAH5c.9563T>G (p.Ile3188Arg)
c.9518T>G (p.Ile3173Arg)
n.275T>G
c.9671T>G (p.Ile3224Arg)
c.8576T>G (p.Ile2859Arg)
c.4760T>G (p.Ile1587Arg)
c.4313T>G (p.Ile1438Arg)
c.3650T>G (p.Ile1217Arg)
c.8165T>G (p.Ile2722Arg)
5g.13770791A>GCA359204292DNAH5c.9563T>C (p.Ile3188Thr)
c.9518T>C (p.Ile3173Thr)
n.275T>C
c.9671T>C (p.Ile3224Thr)
c.8576T>C (p.Ile2859Thr)
c.4760T>C (p.Ile1587Thr)
c.4313T>C (p.Ile1438Thr)
c.3650T>C (p.Ile1217Thr)
c.8165T>C (p.Ile2722Thr)
5g.13770791A>TCA359204293DNAH5c.9563T>A (p.Ile3188Lys)
c.9518T>A (p.Ile3173Lys)
n.275T>A
c.9671T>A (p.Ile3224Lys)
c.8576T>A (p.Ile2859Lys)
c.4760T>A (p.Ile1587Lys)
c.4313T>A (p.Ile1438Lys)
c.3650T>A (p.Ile1217Lys)
c.8165T>A (p.Ile2722Lys)
5g.13770792T>ACA359204294DNAH5c.9562A>T (p.Ile3188Leu)
c.9517A>T (p.Ile3173Leu)
n.274A>T
c.9670A>T (p.Ile3224Leu)
c.8575A>T (p.Ile2859Leu)
c.4759A>T (p.Ile1587Leu)
c.4312A>T (p.Ile1438Leu)
c.3649A>T (p.Ile1217Leu)
c.8164A>T (p.Ile2722Leu)
5g.13770792T>CCA359204296DNAH5c.9562A>G (p.Ile3188Val)
c.9517A>G (p.Ile3173Val)
n.274A>G
c.9670A>G (p.Ile3224Val)
c.8575A>G (p.Ile2859Val)
c.4759A>G (p.Ile1587Val)
c.4312A>G (p.Ile1438Val)
c.3649A>G (p.Ile1217Val)
c.8164A>G (p.Ile2722Val)
5g.13770792T>GCA359204299DNAH5c.9562A>C (p.Ile3188Leu)
c.9517A>C (p.Ile3173Leu)
n.274A>C
c.9670A>C (p.Ile3224Leu)
c.8575A>C (p.Ile2859Leu)
c.4759A>C (p.Ile1587Leu)
c.4312A>C (p.Ile1438Leu)
c.3649A>C (p.Ile1217Leu)
c.8164A>C (p.Ile2722Leu)
 gnomAD v4
5g.13770793G>ACA3202517DNAH5c.9561C>T (p.Phe3187=)
c.9516C>T (p.Phe3172=)
n.273C>T
c.9669C>T (p.Phe3223=)
c.8574C>T (p.Phe2858=)
c.4758C>T (p.Phe1586=)
c.4311C>T (p.Phe1437=)
c.3648C>T (p.Phe1216=)
c.8163C>T (p.Phe2721=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13770793G>CCA359204305DNAH5c.9561C>G (p.Phe3187Leu)
c.9516C>G (p.Phe3172Leu)
n.273C>G
c.9669C>G (p.Phe3223Leu)
c.8574C>G (p.Phe2858Leu)
c.4758C>G (p.Phe1586Leu)
c.4311C>G (p.Phe1437Leu)
c.3648C>G (p.Phe1216Leu)
c.8163C>G (p.Phe2721Leu)
5g.13770793G=CA1528431186DNAH5c.9561C= (p.Phe3187=)
c.9516C= (p.Phe3172=)
n.273C=
c.9669C= (p.Phe3223=)
c.8574C= (p.Phe2858=)
c.4758C= (p.Phe1586=)
c.4311C= (p.Phe1437=)
c.3648C= (p.Phe1216=)
c.8163C= (p.Phe2721=)
5g.13770793G>TCA359204307DNAH5c.9561C>A (p.Phe3187Leu)
c.9516C>A (p.Phe3172Leu)
n.273C>A
c.9669C>A (p.Phe3223Leu)
c.8574C>A (p.Phe2858Leu)
c.4758C>A (p.Phe1586Leu)
c.4311C>A (p.Phe1437Leu)
c.3648C>A (p.Phe1216Leu)
c.8163C>A (p.Phe2721Leu)
5g.13770794A>CCA359204310DNAH5c.9560T>G (p.Phe3187Cys)
c.9515T>G (p.Phe3172Cys)
n.272T>G
c.9668T>G (p.Phe3223Cys)
c.8573T>G (p.Phe2858Cys)
c.4757T>G (p.Phe1586Cys)
c.4310T>G (p.Phe1437Cys)
c.3647T>G (p.Phe1216Cys)
c.8162T>G (p.Phe2721Cys)
5g.13770794A>GCA359204311DNAH5c.9560T>C (p.Phe3187Ser)
c.9515T>C (p.Phe3172Ser)
n.272T>C
c.9668T>C (p.Phe3223Ser)
c.8573T>C (p.Phe2858Ser)
c.4757T>C (p.Phe1586Ser)
c.4310T>C (p.Phe1437Ser)
c.3647T>C (p.Phe1216Ser)
c.8162T>C (p.Phe2721Ser)
5g.13770794A>TCA359204314DNAH5c.9560T>A (p.Phe3187Tyr)
c.9515T>A (p.Phe3172Tyr)
n.272T>A
c.9668T>A (p.Phe3223Tyr)
c.8573T>A (p.Phe2858Tyr)
c.4757T>A (p.Phe1586Tyr)
c.4310T>A (p.Phe1437Tyr)
c.3647T>A (p.Phe1216Tyr)
c.8162T>A (p.Phe2721Tyr)
5g.13770795A>CCA359204316DNAH5c.9559T>G (p.Phe3187Val)
c.9514T>G (p.Phe3172Val)
n.271T>G
c.9667T>G (p.Phe3223Val)
c.8572T>G (p.Phe2858Val)
c.4756T>G (p.Phe1586Val)
c.4309T>G (p.Phe1437Val)
c.3646T>G (p.Phe1216Val)
c.8161T>G (p.Phe2721Val)
5g.13770795A>GCA359204317DNAH5c.9559T>C (p.Phe3187Leu)
c.9514T>C (p.Phe3172Leu)
n.271T>C
c.9667T>C (p.Phe3223Leu)
c.8572T>C (p.Phe2858Leu)
c.4756T>C (p.Phe1586Leu)
c.4309T>C (p.Phe1437Leu)
c.3646T>C (p.Phe1216Leu)
c.8161T>C (p.Phe2721Leu)
5g.13770795A>TCA359204319DNAH5c.9559T>A (p.Phe3187Ile)
c.9514T>A (p.Phe3172Ile)
n.271T>A
c.9667T>A (p.Phe3223Ile)
c.8572T>A (p.Phe2858Ile)
c.4756T>A (p.Phe1586Ile)
c.4309T>A (p.Phe1437Ile)
c.3646T>A (p.Phe1216Ile)
c.8161T>A (p.Phe2721Ile)
5g.13770796C>ACA359204323DNAH5c.9558G>T (p.Lys3186Asn)
c.9513G>T (p.Lys3171Asn)
n.270G>T
c.9666G>T (p.Lys3222Asn)
c.8571G>T (p.Lys2857Asn)
c.4755G>T (p.Lys1585Asn)
c.4308G>T (p.Lys1436Asn)
c.3645G>T (p.Lys1215Asn)
c.8160G>T (p.Lys2720Asn)
 dbSNP gnomAD v4
5g.13770796C=CA1528431187DNAH5c.9558G= (p.Lys3186=)
c.9513G= (p.Lys3171=)
n.270G=
c.9666G= (p.Lys3222=)
c.8571G= (p.Lys2857=)
c.4755G= (p.Lys1585=)
c.4308G= (p.Lys1436=)
c.3645G= (p.Lys1215=)
c.8160G= (p.Lys2720=)
5g.13770796C>GCA359204325DNAH5c.9558G>C (p.Lys3186Asn)
c.9513G>C (p.Lys3171Asn)
n.270G>C
c.9666G>C (p.Lys3222Asn)
c.8571G>C (p.Lys2857Asn)
c.4755G>C (p.Lys1585Asn)
c.4308G>C (p.Lys1436Asn)
c.3645G>C (p.Lys1215Asn)
c.8160G>C (p.Lys2720Asn)
5g.13770796C>TCA443535530DNAH5c.9558G>A (p.Lys3186=)
c.9513G>A (p.Lys3171=)
n.270G>A
c.9666G>A (p.Lys3222=)
c.8571G>A (p.Lys2857=)
c.4755G>A (p.Lys1585=)
c.4308G>A (p.Lys1436=)
c.3645G>A (p.Lys1215=)
c.8160G>A (p.Lys2720=)
 gnomAD v4
5g.13770797T>ACA359204328DNAH5c.9557A>T (p.Lys3186Met)
c.9512A>T (p.Lys3171Met)
n.269A>T
c.9665A>T (p.Lys3222Met)
c.8570A>T (p.Lys2857Met)
c.4754A>T (p.Lys1585Met)
c.4307A>T (p.Lys1436Met)
c.3644A>T (p.Lys1215Met)
c.8159A>T (p.Lys2720Met)
5g.13770797T>CCA359204334DNAH5c.9557A>G (p.Lys3186Arg)
c.9512A>G (p.Lys3171Arg)
n.269A>G
c.9665A>G (p.Lys3222Arg)
c.8570A>G (p.Lys2857Arg)
c.4754A>G (p.Lys1585Arg)
c.4307A>G (p.Lys1436Arg)
c.3644A>G (p.Lys1215Arg)
c.8159A>G (p.Lys2720Arg)
5g.13770797T>GCA359204336DNAH5c.9557A>C (p.Lys3186Thr)
c.9512A>C (p.Lys3171Thr)
n.269A>C
c.9665A>C (p.Lys3222Thr)
c.8570A>C (p.Lys2857Thr)
c.4754A>C (p.Lys1585Thr)
c.4307A>C (p.Lys1436Thr)
c.3644A>C (p.Lys1215Thr)
c.8159A>C (p.Lys2720Thr)
5g.13770798delCA2573138458DNAH5c.9557del (p.Lys3186SerfsTer18)
c.9512del (p.Lys3171SerfsTer18)
n.269del
c.9665del (p.Lys3222SerfsTer18)
c.8570del (p.Lys2857SerfsTer18)
c.9665del (p.Lys3222SerfsTer?)
c.4754del (p.Lys1585SerfsTer18)
c.4307del (p.Lys1436SerfsTer18)
c.3644del (p.Lys1215SerfsTer18)
c.8159del (p.Lys2720SerfsTer18)
 ClinVar dbSNP
5g.13770798T>ACA359204343DNAH5c.9556A>T (p.Lys3186Ter)
c.9511A>T (p.Lys3171Ter)
n.268A>T
c.9664A>T (p.Lys3222Ter)
c.8569A>T (p.Lys2857Ter)
c.4753A>T (p.Lys1585Ter)
c.4306A>T (p.Lys1436Ter)
c.3643A>T (p.Lys1215Ter)
c.8158A>T (p.Lys2720Ter)
5g.13770798T>CCA359204344DNAH5c.9556A>G (p.Lys3186Glu)
c.9511A>G (p.Lys3171Glu)
n.268A>G
c.9664A>G (p.Lys3222Glu)
c.8569A>G (p.Lys2857Glu)
c.4753A>G (p.Lys1585Glu)
c.4306A>G (p.Lys1436Glu)
c.3643A>G (p.Lys1215Glu)
c.8158A>G (p.Lys2720Glu)
5g.13770798T>GCA359204341DNAH5c.9556A>C (p.Lys3186Gln)
c.9511A>C (p.Lys3171Gln)
n.268A>C
c.9664A>C (p.Lys3222Gln)
c.8569A>C (p.Lys2857Gln)
c.4753A>C (p.Lys1585Gln)
c.4306A>C (p.Lys1436Gln)
c.3643A>C (p.Lys1215Gln)
c.8158A>C (p.Lys2720Gln)
5g.13770799A>CCA359204349DNAH5c.9555T>G (p.Tyr3185Ter)
c.9510T>G (p.Tyr3170Ter)
n.267T>G
c.9663T>G (p.Tyr3221Ter)
c.8568T>G (p.Tyr2856Ter)
c.4752T>G (p.Tyr1584Ter)
c.4305T>G (p.Tyr1435Ter)
c.3642T>G (p.Tyr1214Ter)
c.8157T>G (p.Tyr2719Ter)
5g.13770799A>GCA443535533DNAH5c.9555T>C (p.Tyr3185=)
c.9510T>C (p.Tyr3170=)
n.267T>C
c.9663T>C (p.Tyr3221=)
c.8568T>C (p.Tyr2856=)
c.4752T>C (p.Tyr1584=)
c.4305T>C (p.Tyr1435=)
c.3642T>C (p.Tyr1214=)
c.8157T>C (p.Tyr2719=)
 COSMIC
5g.13770799A>TCA359204347DNAH5c.9555T>A (p.Tyr3185Ter)
c.9510T>A (p.Tyr3170Ter)
n.267T>A
c.9663T>A (p.Tyr3221Ter)
c.8568T>A (p.Tyr2856Ter)
c.4752T>A (p.Tyr1584Ter)
c.4305T>A (p.Tyr1435Ter)
c.3642T>A (p.Tyr1214Ter)
c.8157T>A (p.Tyr2719Ter)
 ClinVar COSMIC
5g.13770800T>ACA359204353DNAH5c.9554A>T (p.Tyr3185Phe)
c.9509A>T (p.Tyr3170Phe)
n.266A>T
c.9662A>T (p.Tyr3221Phe)
c.8567A>T (p.Tyr2856Phe)
c.4751A>T (p.Tyr1584Phe)
c.4304A>T (p.Tyr1435Phe)
c.3641A>T (p.Tyr1214Phe)
c.8156A>T (p.Tyr2719Phe)
5g.13770800T>CCA113932806DNAH5c.9554A>G (p.Tyr3185Cys)
c.9509A>G (p.Tyr3170Cys)
n.266A>G
c.9662A>G (p.Tyr3221Cys)
c.8567A>G (p.Tyr2856Cys)
c.4751A>G (p.Tyr1584Cys)
c.4304A>G (p.Tyr1435Cys)
c.3641A>G (p.Tyr1214Cys)
c.8156A>G (p.Tyr2719Cys)
 ClinVar dbSNP gnomAD v4
5g.13770800T>GCA359204357DNAH5c.9554A>C (p.Tyr3185Ser)
c.9509A>C (p.Tyr3170Ser)
n.266A>C
c.9662A>C (p.Tyr3221Ser)
c.8567A>C (p.Tyr2856Ser)
c.4751A>C (p.Tyr1584Ser)
c.4304A>C (p.Tyr1435Ser)
c.3641A>C (p.Tyr1214Ser)
c.8156A>C (p.Tyr2719Ser)
 gnomAD v4
5g.13770800T=CA1528431188DNAH5c.9554A= (p.Tyr3185=)
c.9509A= (p.Tyr3170=)
n.266A=
c.9662A= (p.Tyr3221=)
c.8567A= (p.Tyr2856=)
c.4751A= (p.Tyr1584=)
c.4304A= (p.Tyr1435=)
c.3641A= (p.Tyr1214=)
c.8156A= (p.Tyr2719=)
5g.13770801A>CCA359204359DNAH5c.9553T>G (p.Tyr3185Asp)
c.9508T>G (p.Tyr3170Asp)
n.265T>G
c.9661T>G (p.Tyr3221Asp)
c.8566T>G (p.Tyr2856Asp)
c.4750T>G (p.Tyr1584Asp)
c.4303T>G (p.Tyr1435Asp)
c.3640T>G (p.Tyr1214Asp)
c.8155T>G (p.Tyr2719Asp)
5g.13770801A>GCA359204361DNAH5c.9553T>C (p.Tyr3185His)
c.9508T>C (p.Tyr3170His)
n.265T>C
c.9661T>C (p.Tyr3221His)
c.8566T>C (p.Tyr2856His)
c.4750T>C (p.Tyr1584His)
c.4303T>C (p.Tyr1435His)
c.3640T>C (p.Tyr1214His)
c.8155T>C (p.Tyr2719His)
5g.13770801A>TCA359204362DNAH5c.9553T>A (p.Tyr3185Asn)
c.9508T>A (p.Tyr3170Asn)
n.265T>A
c.9661T>A (p.Tyr3221Asn)
c.8566T>A (p.Tyr2856Asn)
c.4750T>A (p.Tyr1584Asn)
c.4303T>A (p.Tyr1435Asn)
c.3640T>A (p.Tyr1214Asn)
c.8155T>A (p.Tyr2719Asn)
5g.13770802G>ACA443535537DNAH5c.9552C>T (p.Gly3184=)
c.9507C>T (p.Gly3169=)
n.264C>T
c.9660C>T (p.Gly3220=)
c.8565C>T (p.Gly2855=)
c.4749C>T (p.Gly1583=)
c.4302C>T (p.Gly1434=)
c.3639C>T (p.Gly1213=)
c.8154C>T (p.Gly2718=)
 COSMIC
5g.13770802G>CCA443535538DNAH5c.9552C>G (p.Gly3184=)
c.9507C>G (p.Gly3169=)
n.264C>G
c.9660C>G (p.Gly3220=)
c.8565C>G (p.Gly2855=)
c.4749C>G (p.Gly1583=)
c.4302C>G (p.Gly1434=)
c.3639C>G (p.Gly1213=)
c.8154C>G (p.Gly2718=)
5g.13770802G=CA1528431189DNAH5c.9552C= (p.Gly3184=)
c.9507C= (p.Gly3169=)
n.264C=
c.9660C= (p.Gly3220=)
c.8565C= (p.Gly2855=)
c.4749C= (p.Gly1583=)
c.4302C= (p.Gly1434=)
c.3639C= (p.Gly1213=)
c.8154C= (p.Gly2718=)
5g.13770802G>TCA3202518DNAH5c.9552C>A (p.Gly3184=)
c.9507C>A (p.Gly3169=)
n.264C>A
c.9660C>A (p.Gly3220=)
c.8565C>A (p.Gly2855=)
c.4749C>A (p.Gly1583=)
c.4302C>A (p.Gly1434=)
c.3639C>A (p.Gly1213=)
c.8154C>A (p.Gly2718=)
 ClinVar dbSNP ExAC gnomAD v2
5g.13770803C>ACA3202520DNAH5c.9551G>T (p.Gly3184Val)
c.9506G>T (p.Gly3169Val)
n.263G>T
c.9659G>T (p.Gly3220Val)
c.8564G>T (p.Gly2855Val)
c.4748G>T (p.Gly1583Val)
c.4301G>T (p.Gly1434Val)
c.3638G>T (p.Gly1213Val)
c.8153G>T (p.Gly2718Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13770803C=CA1528431190DNAH5c.9551G= (p.Gly3184=)
c.9506G= (p.Gly3169=)
n.263G=
c.9659G= (p.Gly3220=)
c.8564G= (p.Gly2855=)
c.4748G= (p.Gly1583=)
c.4301G= (p.Gly1434=)
c.3638G= (p.Gly1213=)
c.8153G= (p.Gly2718=)
5g.13770803C>GCA359204369DNAH5c.9551G>C (p.Gly3184Ala)
c.9506G>C (p.Gly3169Ala)
n.263G>C
c.9659G>C (p.Gly3220Ala)
c.8564G>C (p.Gly2855Ala)
c.4748G>C (p.Gly1583Ala)
c.4301G>C (p.Gly1434Ala)
c.3638G>C (p.Gly1213Ala)
c.8153G>C (p.Gly2718Ala)
5g.13770803C>TCA3202519DNAH5c.9551G>A (p.Gly3184Asp)
c.9506G>A (p.Gly3169Asp)
n.263G>A
c.9659G>A (p.Gly3220Asp)
c.8564G>A (p.Gly2855Asp)
c.4748G>A (p.Gly1583Asp)
c.4301G>A (p.Gly1434Asp)
c.3638G>A (p.Gly1213Asp)
c.8153G>A (p.Gly2718Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770804C>ACA3202521DNAH5c.9550G>T (p.Gly3184Cys)
c.9505G>T (p.Gly3169Cys)
n.262G>T
c.9658G>T (p.Gly3220Cys)
c.8563G>T (p.Gly2855Cys)
c.4747G>T (p.Gly1583Cys)
c.4300G>T (p.Gly1434Cys)
c.3637G>T (p.Gly1213Cys)
c.8152G>T (p.Gly2718Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770804C=CA1528431191DNAH5c.9550G= (p.Gly3184=)
c.9505G= (p.Gly3169=)
n.262G=
c.9658G= (p.Gly3220=)
c.8563G= (p.Gly2855=)
c.4747G= (p.Gly1583=)
c.4300G= (p.Gly1434=)
c.3637G= (p.Gly1213=)
c.8152G= (p.Gly2718=)
5g.13770804C>GCA359204376DNAH5c.9550G>C (p.Gly3184Arg)
c.9505G>C (p.Gly3169Arg)
n.262G>C
c.9658G>C (p.Gly3220Arg)
c.8563G>C (p.Gly2855Arg)
c.4747G>C (p.Gly1583Arg)
c.4300G>C (p.Gly1434Arg)
c.3637G>C (p.Gly1213Arg)
c.8152G>C (p.Gly2718Arg)
5g.13770804C>TCA359204379DNAH5c.9550G>A (p.Gly3184Ser)
c.9505G>A (p.Gly3169Ser)
n.262G>A
c.9658G>A (p.Gly3220Ser)
c.8563G>A (p.Gly2855Ser)
c.4747G>A (p.Gly1583Ser)
c.4300G>A (p.Gly1434Ser)
c.3637G>A (p.Gly1213Ser)
c.8152G>A (p.Gly2718Ser)
 gnomAD v4
5g.13770805C>ACA359204383DNAH5c.9549G>T (p.Gln3183His)
c.9504G>T (p.Gln3168His)
n.261G>T
c.9657G>T (p.Gln3219His)
c.8562G>T (p.Gln2854His)
c.4746G>T (p.Gln1582His)
c.4299G>T (p.Gln1433His)
c.3636G>T (p.Gln1212His)
c.8151G>T (p.Gln2717His)
5g.13770805C=CA1528431192DNAH5c.9549G= (p.Gln3183=)
c.9504G= (p.Gln3168=)
n.261G=
c.9657G= (p.Gln3219=)
c.8562G= (p.Gln2854=)
c.4746G= (p.Gln1582=)
c.4299G= (p.Gln1433=)
c.3636G= (p.Gln1212=)
c.8151G= (p.Gln2717=)
5g.13770805C>GCA359204386DNAH5c.9549G>C (p.Gln3183His)
c.9504G>C (p.Gln3168His)
n.261G>C
c.9657G>C (p.Gln3219His)
c.8562G>C (p.Gln2854His)
c.4746G>C (p.Gln1582His)
c.4299G>C (p.Gln1433His)
c.3636G>C (p.Gln1212His)
c.8151G>C (p.Gln2717His)
5g.13770805C>TCA3202522DNAH5c.9549G>A (p.Gln3183=)
c.9504G>A (p.Gln3168=)
n.261G>A
c.9657G>A (p.Gln3219=)
c.8562G>A (p.Gln2854=)
c.4746G>A (p.Gln1582=)
c.4299G>A (p.Gln1433=)
c.3636G>A (p.Gln1212=)
c.8151G>A (p.Gln2717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770806T>ACA359204392DNAH5c.9548A>T (p.Gln3183Leu)
c.9503A>T (p.Gln3168Leu)
n.260A>T
c.9656A>T (p.Gln3219Leu)
c.8561A>T (p.Gln2854Leu)
c.4745A>T (p.Gln1582Leu)
c.4298A>T (p.Gln1433Leu)
c.3635A>T (p.Gln1212Leu)
c.8150A>T (p.Gln2717Leu)
5g.13770806T>CCA359204394DNAH5c.9548A>G (p.Gln3183Arg)
c.9503A>G (p.Gln3168Arg)
n.260A>G
c.9656A>G (p.Gln3219Arg)
c.8561A>G (p.Gln2854Arg)
c.4745A>G (p.Gln1582Arg)
c.4298A>G (p.Gln1433Arg)
c.3635A>G (p.Gln1212Arg)
c.8150A>G (p.Gln2717Arg)
5g.13770806T>GCA359204395DNAH5c.9548A>C (p.Gln3183Pro)
c.9503A>C (p.Gln3168Pro)
n.260A>C
c.9656A>C (p.Gln3219Pro)
c.8561A>C (p.Gln2854Pro)
c.4745A>C (p.Gln1582Pro)
c.4298A>C (p.Gln1433Pro)
c.3635A>C (p.Gln1212Pro)
c.8150A>C (p.Gln2717Pro)
5g.13770807G>ACA359204398DNAH5c.9547C>T (p.Gln3183Ter)
c.9502C>T (p.Gln3168Ter)
n.259C>T
c.9655C>T (p.Gln3219Ter)
c.8560C>T (p.Gln2854Ter)
c.4744C>T (p.Gln1582Ter)
c.4297C>T (p.Gln1433Ter)
c.3634C>T (p.Gln1212Ter)
c.8149C>T (p.Gln2717Ter)
5g.13770807G>CCA359204400DNAH5c.9547C>G (p.Gln3183Glu)
c.9502C>G (p.Gln3168Glu)
n.259C>G
c.9655C>G (p.Gln3219Glu)
c.8560C>G (p.Gln2854Glu)
c.4744C>G (p.Gln1582Glu)
c.4297C>G (p.Gln1433Glu)
c.3634C>G (p.Gln1212Glu)
c.8149C>G (p.Gln2717Glu)
5g.13770807G>TCA359204402DNAH5c.9547C>A (p.Gln3183Lys)
c.9502C>A (p.Gln3168Lys)
n.259C>A
c.9655C>A (p.Gln3219Lys)
c.8560C>A (p.Gln2854Lys)
c.4744C>A (p.Gln1582Lys)
c.4297C>A (p.Gln1433Lys)
c.3634C>A (p.Gln1212Lys)
c.8149C>A (p.Gln2717Lys)
5g.13770808A=CA1528431193DNAH5c.9546T= (p.Ile3182=)
c.9501T= (p.Ile3167=)
n.258T=
c.9654T= (p.Ile3218=)
c.8559T= (p.Ile2853=)
c.4743T= (p.Ile1581=)
c.4296T= (p.Ile1432=)
c.3633T= (p.Ile1211=)
c.8148T= (p.Ile2716=)
5g.13770808A>CCA3202523DNAH5c.9546T>G (p.Ile3182Met)
c.9501T>G (p.Ile3167Met)
n.258T>G
c.9654T>G (p.Ile3218Met)
c.8559T>G (p.Ile2853Met)
c.4743T>G (p.Ile1581Met)
c.4296T>G (p.Ile1432Met)
c.3633T>G (p.Ile1211Met)
c.8148T>G (p.Ile2716Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770808A>GCA443535542DNAH5c.9546T>C (p.Ile3182=)
c.9501T>C (p.Ile3167=)
n.258T>C
c.9654T>C (p.Ile3218=)
c.8559T>C (p.Ile2853=)
c.4743T>C (p.Ile1581=)
c.4296T>C (p.Ile1432=)
c.3633T>C (p.Ile1211=)
c.8148T>C (p.Ile2716=)
 ClinVar
5g.13770808A>TCA443535543DNAH5c.9546T>A (p.Ile3182=)
c.9501T>A (p.Ile3167=)
n.258T>A
c.9654T>A (p.Ile3218=)
c.8559T>A (p.Ile2853=)
c.4743T>A (p.Ile1581=)
c.4296T>A (p.Ile1432=)
c.3633T>A (p.Ile1211=)
c.8148T>A (p.Ile2716=)
5g.13770809A=CA1528431194DNAH5c.9545T= (p.Ile3182=)
c.9500T= (p.Ile3167=)
n.257T=
c.9653T= (p.Ile3218=)
c.8558T= (p.Ile2853=)
c.4742T= (p.Ile1581=)
c.4295T= (p.Ile1432=)
c.3632T= (p.Ile1211=)
c.8147T= (p.Ile2716=)
5g.13770809A>CCA359204405DNAH5c.9545T>G (p.Ile3182Ser)
c.9500T>G (p.Ile3167Ser)
n.257T>G
c.9653T>G (p.Ile3218Ser)
c.8558T>G (p.Ile2853Ser)
c.4742T>G (p.Ile1581Ser)
c.4295T>G (p.Ile1432Ser)
c.3632T>G (p.Ile1211Ser)
c.8147T>G (p.Ile2716Ser)
5g.13770809A>GCA359204406DNAH5c.9545T>C (p.Ile3182Thr)
c.9500T>C (p.Ile3167Thr)
n.257T>C
c.9653T>C (p.Ile3218Thr)
c.8558T>C (p.Ile2853Thr)
c.4742T>C (p.Ile1581Thr)
c.4295T>C (p.Ile1432Thr)
c.3632T>C (p.Ile1211Thr)
c.8147T>C (p.Ile2716Thr)
 dbSNP
5g.13770809A>TCA359204408DNAH5c.9545T>A (p.Ile3182Asn)
c.9500T>A (p.Ile3167Asn)
n.257T>A
c.9653T>A (p.Ile3218Asn)
c.8558T>A (p.Ile2853Asn)
c.4742T>A (p.Ile1581Asn)
c.4295T>A (p.Ile1432Asn)
c.3632T>A (p.Ile1211Asn)
c.8147T>A (p.Ile2716Asn)
5g.13770810delCA2673268301DNAH5c.9544del (p.Ile3182PhefsTer22)
c.9499del (p.Ile3167PhefsTer22)
n.256del
c.9652del (p.Ile3218PhefsTer22)
c.8557del (p.Ile2853PhefsTer22)
c.9652del (p.Ile3218PhefsTer?)
c.4741del (p.Ile1581PhefsTer22)
c.4294del (p.Ile1432PhefsTer22)
c.3631del (p.Ile1211PhefsTer22)
c.8146del (p.Ile2716PhefsTer22)
 gnomAD v4
5g.13770810T>ACA359204413DNAH5c.9544A>T (p.Ile3182Phe)
c.9499A>T (p.Ile3167Phe)
n.256A>T
c.9652A>T (p.Ile3218Phe)
c.8557A>T (p.Ile2853Phe)
c.4741A>T (p.Ile1581Phe)
c.4294A>T (p.Ile1432Phe)
c.3631A>T (p.Ile1211Phe)
c.8146A>T (p.Ile2716Phe)
 gnomAD v4
5g.13770810T>CCA359204412DNAH5c.9544A>G (p.Ile3182Val)
c.9499A>G (p.Ile3167Val)
n.256A>G
c.9652A>G (p.Ile3218Val)
c.8557A>G (p.Ile2853Val)
c.4741A>G (p.Ile1581Val)
c.4294A>G (p.Ile1432Val)
c.3631A>G (p.Ile1211Val)
c.8146A>G (p.Ile2716Val)
 gnomAD v4
5g.13770810T>GCA113932883DNAH5c.9544A>C (p.Ile3182Leu)
c.9499A>C (p.Ile3167Leu)
n.256A>C
c.9652A>C (p.Ile3218Leu)
c.8557A>C (p.Ile2853Leu)
c.4741A>C (p.Ile1581Leu)
c.4294A>C (p.Ile1432Leu)
c.3631A>C (p.Ile1211Leu)
c.8146A>C (p.Ile2716Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13770810T=CA1528431195DNAH5c.9544A= (p.Ile3182=)
c.9499A= (p.Ile3167=)
n.256A=
c.9652A= (p.Ile3218=)
c.8557A= (p.Ile2853=)
c.4741A= (p.Ile1581=)
c.4294A= (p.Ile1432=)
c.3631A= (p.Ile1211=)
c.8146A= (p.Ile2716=)
5g.13770811A>CCA359204414DNAH5c.9543T>G (p.Phe3181Leu)
c.9498T>G (p.Phe3166Leu)
n.255T>G
c.9651T>G (p.Phe3217Leu)
c.8556T>G (p.Phe2852Leu)
c.4740T>G (p.Phe1580Leu)
c.4293T>G (p.Phe1431Leu)
c.3630T>G (p.Phe1210Leu)
c.8145T>G (p.Phe2715Leu)
 gnomAD v4
5g.13770811A>GCA443535544DNAH5c.9543T>C (p.Phe3181=)
c.9498T>C (p.Phe3166=)
n.255T>C
c.9651T>C (p.Phe3217=)
c.8556T>C (p.Phe2852=)
c.4740T>C (p.Phe1580=)
c.4293T>C (p.Phe1431=)
c.3630T>C (p.Phe1210=)
c.8145T>C (p.Phe2715=)
 ClinVar dbSNP
5g.13770811A>TCA359204415DNAH5c.9543T>A (p.Phe3181Leu)
c.9498T>A (p.Phe3166Leu)
n.255T>A
c.9651T>A (p.Phe3217Leu)
c.8556T>A (p.Phe2852Leu)
c.4740T>A (p.Phe1580Leu)
c.4293T>A (p.Phe1431Leu)
c.3630T>A (p.Phe1210Leu)
c.8145T>A (p.Phe2715Leu)
5g.13770812A>CCA359204416DNAH5c.9542T>G (p.Phe3181Cys)
c.9497T>G (p.Phe3166Cys)
n.254T>G
c.9650T>G (p.Phe3217Cys)
c.8555T>G (p.Phe2852Cys)
c.4739T>G (p.Phe1580Cys)
c.4292T>G (p.Phe1431Cys)
c.3629T>G (p.Phe1210Cys)
c.8144T>G (p.Phe2715Cys)
5g.13770812A>GCA359204418DNAH5c.9542T>C (p.Phe3181Ser)
c.9497T>C (p.Phe3166Ser)
n.254T>C
c.9650T>C (p.Phe3217Ser)
c.8555T>C (p.Phe2852Ser)
c.4739T>C (p.Phe1580Ser)
c.4292T>C (p.Phe1431Ser)
c.3629T>C (p.Phe1210Ser)
c.8144T>C (p.Phe2715Ser)
5g.13770812A>TCA359204419DNAH5c.9542T>A (p.Phe3181Tyr)
c.9497T>A (p.Phe3166Tyr)
n.254T>A
c.9650T>A (p.Phe3217Tyr)
c.8555T>A (p.Phe2852Tyr)
c.4739T>A (p.Phe1580Tyr)
c.4292T>A (p.Phe1431Tyr)
c.3629T>A (p.Phe1210Tyr)
c.8144T>A (p.Phe2715Tyr)
5g.13770813A>CCA359204426DNAH5c.9541T>G (p.Phe3181Val)
c.9496T>G (p.Phe3166Val)
n.253T>G
c.9649T>G (p.Phe3217Val)
c.8554T>G (p.Phe2852Val)
c.4738T>G (p.Phe1580Val)
c.4291T>G (p.Phe1431Val)
c.3628T>G (p.Phe1210Val)
c.8143T>G (p.Phe2715Val)
5g.13770813A>GCA359204425DNAH5c.9541T>C (p.Phe3181Leu)
c.9496T>C (p.Phe3166Leu)
n.253T>C
c.9649T>C (p.Phe3217Leu)
c.8554T>C (p.Phe2852Leu)
c.4738T>C (p.Phe1580Leu)
c.4291T>C (p.Phe1431Leu)
c.3628T>C (p.Phe1210Leu)
c.8143T>C (p.Phe2715Leu)
5g.13770813A>TCA359204420DNAH5c.9541T>A (p.Phe3181Ile)
c.9496T>A (p.Phe3166Ile)
n.253T>A
c.9649T>A (p.Phe3217Ile)
c.8554T>A (p.Phe2852Ile)
c.4738T>A (p.Phe1580Ile)
c.4291T>A (p.Phe1431Ile)
c.3628T>A (p.Phe1210Ile)
c.8143T>A (p.Phe2715Ile)
5g.13770814G>ACA443535546DNAH5c.9540C>T (p.Ser3180=)
c.9495C>T (p.Ser3165=)
n.252C>T
c.9648C>T (p.Ser3216=)
c.8553C>T (p.Ser2851=)
c.4737C>T (p.Ser1579=)
c.4290C>T (p.Ser1430=)
c.3627C>T (p.Ser1209=)
c.8142C>T (p.Ser2714=)
5g.13770814G>CCA443535547DNAH5c.9540C>G (p.Ser3180=)
c.9495C>G (p.Ser3165=)
n.252C>G
c.9648C>G (p.Ser3216=)
c.8553C>G (p.Ser2851=)
c.4737C>G (p.Ser1579=)
c.4290C>G (p.Ser1430=)
c.3627C>G (p.Ser1209=)
c.8142C>G (p.Ser2714=)
5g.13770814G>TCA443535548DNAH5c.9540C>A (p.Ser3180=)
c.9495C>A (p.Ser3165=)
n.252C>A
c.9648C>A (p.Ser3216=)
c.8553C>A (p.Ser2851=)
c.4737C>A (p.Ser1579=)
c.4290C>A (p.Ser1430=)
c.3627C>A (p.Ser1209=)
c.8142C>A (p.Ser2714=)
5g.13770815delCA2499217610DNAH5c.9540del (p.Phe3181LeufsTer23)
c.9495del (p.Phe3166LeufsTer23)
n.252del
c.9648del (p.Phe3217LeufsTer23)
c.8553del (p.Phe2852LeufsTer23)
c.9648del (p.Phe3217LeufsTer?)
c.4737del (p.Phe1580LeufsTer23)
c.4290del (p.Phe1431LeufsTer23)
c.3627del (p.Phe1210LeufsTer23)
c.8142del (p.Phe2715LeufsTer23)
 ClinVar dbSNP
5g.13770815G>ACA359204429DNAH5c.9539C>T (p.Ser3180Phe)
c.9494C>T (p.Ser3165Phe)
n.251C>T
c.9647C>T (p.Ser3216Phe)
c.8552C>T (p.Ser2851Phe)
c.4736C>T (p.Ser1579Phe)
c.4289C>T (p.Ser1430Phe)
c.3626C>T (p.Ser1209Phe)
c.8141C>T (p.Ser2714Phe)
 gnomAD v4
5g.13770815G>CCA359204430DNAH5c.9539C>G (p.Ser3180Cys)
c.9494C>G (p.Ser3165Cys)
n.251C>G
c.9647C>G (p.Ser3216Cys)
c.8552C>G (p.Ser2851Cys)
c.4736C>G (p.Ser1579Cys)
c.4289C>G (p.Ser1430Cys)
c.3626C>G (p.Ser1209Cys)
c.8141C>G (p.Ser2714Cys)
5g.13770815G>TCA359204432DNAH5c.9539C>A (p.Ser3180Tyr)
c.9494C>A (p.Ser3165Tyr)
n.251C>A
c.9647C>A (p.Ser3216Tyr)
c.8552C>A (p.Ser2851Tyr)
c.4736C>A (p.Ser1579Tyr)
c.4289C>A (p.Ser1430Tyr)
c.3626C>A (p.Ser1209Tyr)
c.8141C>A (p.Ser2714Tyr)
5g.13770815_13770816delinsAGCA2580072361DNAH5c.9538_9539delinsCT (p.Ser3180Leu)
c.9493_9494delinsCT (p.Ser3165Leu)
n.250_251delinsCT
c.9646_9647delinsCT (p.Ser3216Leu)
c.8551_8552delinsCT (p.Ser2851Leu)
c.4735_4736delinsCT (p.Ser1579Leu)
c.4288_4289delinsCT (p.Ser1430Leu)
c.3625_3626delinsCT (p.Ser1209Leu)
c.8140_8141delinsCT (p.Ser2714Leu)
 ClinVar
5g.13770816A=CA1528431196DNAH5c.9538T= (p.Ser3180=)
c.9493T= (p.Ser3165=)
n.250T=
c.9646T= (p.Ser3216=)
c.8551T= (p.Ser2851=)
c.4735T= (p.Ser1579=)
c.4288T= (p.Ser1430=)
c.3625T= (p.Ser1209=)
c.8140T= (p.Ser2714=)
5g.13770816A>CCA359204434DNAH5c.9538T>G (p.Ser3180Ala)
c.9493T>G (p.Ser3165Ala)
n.250T>G
c.9646T>G (p.Ser3216Ala)
c.8551T>G (p.Ser2851Ala)
c.4735T>G (p.Ser1579Ala)
c.4288T>G (p.Ser1430Ala)
c.3625T>G (p.Ser1209Ala)
c.8140T>G (p.Ser2714Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770816A>GCA113932891DNAH5c.9538T>C (p.Ser3180Pro)
c.9493T>C (p.Ser3165Pro)
n.250T>C
c.9646T>C (p.Ser3216Pro)
c.8551T>C (p.Ser2851Pro)
c.4735T>C (p.Ser1579Pro)
c.4288T>C (p.Ser1430Pro)
c.3625T>C (p.Ser1209Pro)
c.8140T>C (p.Ser2714Pro)
 dbSNP gnomAD v4
5g.13770816A>TCA359204437DNAH5c.9538T>A (p.Ser3180Thr)
c.9493T>A (p.Ser3165Thr)
n.250T>A
c.9646T>A (p.Ser3216Thr)
c.8551T>A (p.Ser2851Thr)
c.4735T>A (p.Ser1579Thr)
c.4288T>A (p.Ser1430Thr)
c.3625T>A (p.Ser1209Thr)
c.8140T>A (p.Ser2714Thr)
5g.13770817G>ACA443535552DNAH5c.9537C>T (p.Leu3179=)
c.9492C>T (p.Leu3164=)
n.249C>T
c.9645C>T (p.Leu3215=)
c.8550C>T (p.Leu2850=)
c.4734C>T (p.Leu1578=)
c.4287C>T (p.Leu1429=)
c.3624C>T (p.Leu1208=)
c.8139C>T (p.Leu2713=)
5g.13770817G>CCA443535553DNAH5c.9537C>G (p.Leu3179=)
c.9492C>G (p.Leu3164=)
n.249C>G
c.9645C>G (p.Leu3215=)
c.8550C>G (p.Leu2850=)
c.4734C>G (p.Leu1578=)
c.4287C>G (p.Leu1429=)
c.3624C>G (p.Leu1208=)
c.8139C>G (p.Leu2713=)
5g.13770817G>TCA443535554DNAH5c.9537C>A (p.Leu3179=)
c.9492C>A (p.Leu3164=)
n.249C>A
c.9645C>A (p.Leu3215=)
c.8550C>A (p.Leu2850=)
c.4734C>A (p.Leu1578=)
c.4287C>A (p.Leu1429=)
c.3624C>A (p.Leu1208=)
c.8139C>A (p.Leu2713=)
5g.13770818A>CCA359204441DNAH5c.9536T>G (p.Leu3179Arg)
c.9491T>G (p.Leu3164Arg)
n.248T>G
c.9644T>G (p.Leu3215Arg)
c.8549T>G (p.Leu2850Arg)
c.4733T>G (p.Leu1578Arg)
c.4286T>G (p.Leu1429Arg)
c.3623T>G (p.Leu1208Arg)
c.8138T>G (p.Leu2713Arg)
5g.13770818A>GCA359204452DNAH5c.9536T>C (p.Leu3179Pro)
c.9491T>C (p.Leu3164Pro)
n.248T>C
c.9644T>C (p.Leu3215Pro)
c.8549T>C (p.Leu2850Pro)
c.4733T>C (p.Leu1578Pro)
c.4286T>C (p.Leu1429Pro)
c.3623T>C (p.Leu1208Pro)
c.8138T>C (p.Leu2713Pro)
5g.13770818A>TCA359204449DNAH5c.9536T>A (p.Leu3179His)
c.9491T>A (p.Leu3164His)
n.248T>A
c.9644T>A (p.Leu3215His)
c.8549T>A (p.Leu2850His)
c.4733T>A (p.Leu1578His)
c.4286T>A (p.Leu1429His)
c.3623T>A (p.Leu1208His)
c.8138T>A (p.Leu2713His)
5g.13770819G>ACA359204455DNAH5c.9535C>T (p.Leu3179Phe)
c.9490C>T (p.Leu3164Phe)
n.247C>T
c.9643C>T (p.Leu3215Phe)
c.8548C>T (p.Leu2850Phe)
c.4732C>T (p.Leu1578Phe)
c.4285C>T (p.Leu1429Phe)
c.3622C>T (p.Leu1208Phe)
c.8137C>T (p.Leu2713Phe)
 dbSNP COSMIC
5g.13770819G>CCA359204456DNAH5c.9535C>G (p.Leu3179Val)
c.9490C>G (p.Leu3164Val)
n.247C>G
c.9643C>G (p.Leu3215Val)
c.8548C>G (p.Leu2850Val)
c.4732C>G (p.Leu1578Val)
c.4285C>G (p.Leu1429Val)
c.3622C>G (p.Leu1208Val)
c.8137C>G (p.Leu2713Val)
 gnomAD v4
5g.13770819G=CA1528431197DNAH5c.9535C= (p.Leu3179=)
c.9490C= (p.Leu3164=)
n.247C=
c.9643C= (p.Leu3215=)
c.8548C= (p.Leu2850=)
c.4732C= (p.Leu1578=)
c.4285C= (p.Leu1429=)
c.3622C= (p.Leu1208=)
c.8137C= (p.Leu2713=)
5g.13770819G>TCA359204457DNAH5c.9535C>A (p.Leu3179Ile)
c.9490C>A (p.Leu3164Ile)
n.247C>A
c.9643C>A (p.Leu3215Ile)
c.8548C>A (p.Leu2850Ile)
c.4732C>A (p.Leu1578Ile)
c.4285C>A (p.Leu1429Ile)
c.3622C>A (p.Leu1208Ile)
c.8137C>A (p.Leu2713Ile)
5g.13770820G>ACA443535558DNAH5c.9534C>T (p.Tyr3178=)
c.9489C>T (p.Tyr3163=)
n.246C>T
c.9642C>T (p.Tyr3214=)
c.8547C>T (p.Tyr2849=)
c.4731C>T (p.Tyr1577=)
c.4284C>T (p.Tyr1428=)
c.3621C>T (p.Tyr1207=)
c.8136C>T (p.Tyr2712=)
 COSMIC
5g.13770820G>CCA359204461DNAH5c.9534C>G (p.Tyr3178Ter)
c.9489C>G (p.Tyr3163Ter)
n.246C>G
c.9642C>G (p.Tyr3214Ter)
c.8547C>G (p.Tyr2849Ter)
c.4731C>G (p.Tyr1577Ter)
c.4284C>G (p.Tyr1428Ter)
c.3621C>G (p.Tyr1207Ter)
c.8136C>G (p.Tyr2712Ter)
5g.13770820G=CA1528431198DNAH5c.9534C= (p.Tyr3178=)
c.9489C= (p.Tyr3163=)
n.246C=
c.9642C= (p.Tyr3214=)
c.8547C= (p.Tyr2849=)
c.4731C= (p.Tyr1577=)
c.4284C= (p.Tyr1428=)
c.3621C= (p.Tyr1207=)
c.8136C= (p.Tyr2712=)
5g.13770820G>TCA359204463DNAH5c.9534C>A (p.Tyr3178Ter)
c.9489C>A (p.Tyr3163Ter)
n.246C>A
c.9642C>A (p.Tyr3214Ter)
c.8547C>A (p.Tyr2849Ter)
c.4731C>A (p.Tyr1577Ter)
c.4284C>A (p.Tyr1428Ter)
c.3621C>A (p.Tyr1207Ter)
c.8136C>A (p.Tyr2712Ter)
 ClinVar dbSNP
5g.13770821T>ACA359204466DNAH5c.9533A>T (p.Tyr3178Phe)
c.9488A>T (p.Tyr3163Phe)
n.245A>T
c.9641A>T (p.Tyr3214Phe)
c.8546A>T (p.Tyr2849Phe)
c.4730A>T (p.Tyr1577Phe)
c.4283A>T (p.Tyr1428Phe)
c.3620A>T (p.Tyr1207Phe)
c.8135A>T (p.Tyr2712Phe)
5g.13770821T>CCA359204468DNAH5c.9533A>G (p.Tyr3178Cys)
c.9488A>G (p.Tyr3163Cys)
n.245A>G
c.9641A>G (p.Tyr3214Cys)
c.8546A>G (p.Tyr2849Cys)
c.4730A>G (p.Tyr1577Cys)
c.4283A>G (p.Tyr1428Cys)
c.3620A>G (p.Tyr1207Cys)
c.8135A>G (p.Tyr2712Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.13770821T>GCA359204471DNAH5c.9533A>C (p.Tyr3178Ser)
c.9488A>C (p.Tyr3163Ser)
n.245A>C
c.9641A>C (p.Tyr3214Ser)
c.8546A>C (p.Tyr2849Ser)
c.4730A>C (p.Tyr1577Ser)
c.4283A>C (p.Tyr1428Ser)
c.3620A>C (p.Tyr1207Ser)
c.8135A>C (p.Tyr2712Ser)
5g.13770821T=CA1528431199DNAH5c.9533A= (p.Tyr3178=)
c.9488A= (p.Tyr3163=)
n.245A=
c.9641A= (p.Tyr3214=)
c.8546A= (p.Tyr2849=)
c.4730A= (p.Tyr1577=)
c.4283A= (p.Tyr1428=)
c.3620A= (p.Tyr1207=)
c.8135A= (p.Tyr2712=)
5g.13770822A>CCA359204475DNAH5c.9532T>G (p.Tyr3178Asp)
c.9487T>G (p.Tyr3163Asp)
n.244T>G
c.9640T>G (p.Tyr3214Asp)
c.8545T>G (p.Tyr2849Asp)
c.4729T>G (p.Tyr1577Asp)
c.4282T>G (p.Tyr1428Asp)
c.3619T>G (p.Tyr1207Asp)
c.8134T>G (p.Tyr2712Asp)
5g.13770822A>GCA359204477DNAH5c.9532T>C (p.Tyr3178His)
c.9487T>C (p.Tyr3163His)
n.244T>C
c.9640T>C (p.Tyr3214His)
c.8545T>C (p.Tyr2849His)
c.4729T>C (p.Tyr1577His)
c.4282T>C (p.Tyr1428His)
c.3619T>C (p.Tyr1207His)
c.8134T>C (p.Tyr2712His)
 gnomAD v4
5g.13770822A>TCA359204478DNAH5c.9532T>A (p.Tyr3178Asn)
c.9487T>A (p.Tyr3163Asn)
n.244T>A
c.9640T>A (p.Tyr3214Asn)
c.8545T>A (p.Tyr2849Asn)
c.4729T>A (p.Tyr1577Asn)
c.4282T>A (p.Tyr1428Asn)
c.3619T>A (p.Tyr1207Asn)
c.8134T>A (p.Tyr2712Asn)
5g.13770822dupCA3202524DNAH5c.9532dup (p.Tyr3178LeufsTer9)
c.9487dup (p.Tyr3163LeufsTer9)
n.244dup
c.9640dup (p.Tyr3214LeufsTer9)
c.8545dup (p.Tyr2849LeufsTer9)
c.4729dup (p.Tyr1577LeufsTer9)
c.4282dup (p.Tyr1428LeufsTer9)
c.3619dup (p.Tyr1207LeufsTer9)
c.8134dup (p.Tyr2712LeufsTer9)
 dbSNP ExAC gnomAD v2
5g.13770823T>ACA443535563DNAH5c.9531A>T (p.Ser3177=)
c.9486A>T (p.Ser3162=)
n.243A>T
c.9639A>T (p.Ser3213=)
c.8544A>T (p.Ser2848=)
c.4728A>T (p.Ser1576=)
c.4281A>T (p.Ser1427=)
c.3618A>T (p.Ser1206=)
c.8133A>T (p.Ser2711=)
 gnomAD v4
5g.13770823T>CCA3202525DNAH5c.9531A>G (p.Ser3177=)
c.9486A>G (p.Ser3162=)
n.243A>G
c.9639A>G (p.Ser3213=)
c.8544A>G (p.Ser2848=)
c.4728A>G (p.Ser1576=)
c.4281A>G (p.Ser1427=)
c.3618A>G (p.Ser1206=)
c.8133A>G (p.Ser2711=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770823T>GCA443535564DNAH5c.9531A>C (p.Ser3177=)
c.9486A>C (p.Ser3162=)
n.243A>C
c.9639A>C (p.Ser3213=)
c.8544A>C (p.Ser2848=)
c.4728A>C (p.Ser1576=)
c.4281A>C (p.Ser1427=)
c.3618A>C (p.Ser1206=)
c.8133A>C (p.Ser2711=)
5g.13770823T=CA1528431200DNAH5c.9531A= (p.Ser3177=)
c.9486A= (p.Ser3162=)
n.243A=
c.9639A= (p.Ser3213=)
c.8544A= (p.Ser2848=)
c.4728A= (p.Ser1576=)
c.4281A= (p.Ser1427=)
c.3618A= (p.Ser1206=)
c.8133A= (p.Ser2711=)
5g.13770824G>ACA359204485DNAH5c.9530C>T (p.Ser3177Leu)
c.9485C>T (p.Ser3162Leu)
n.242C>T
c.9638C>T (p.Ser3213Leu)
c.8543C>T (p.Ser2848Leu)
c.4727C>T (p.Ser1576Leu)
c.4280C>T (p.Ser1427Leu)
c.3617C>T (p.Ser1206Leu)
c.8132C>T (p.Ser2711Leu)
 COSMIC
5g.13770824G>CCA359204481DNAH5c.9530C>G (p.Ser3177Ter)
c.9485C>G (p.Ser3162Ter)
n.242C>G
c.9638C>G (p.Ser3213Ter)
c.8543C>G (p.Ser2848Ter)
c.4727C>G (p.Ser1576Ter)
c.4280C>G (p.Ser1427Ter)
c.3617C>G (p.Ser1206Ter)
c.8132C>G (p.Ser2711Ter)
5g.13770824G>TCA359204487DNAH5c.9530C>A (p.Ser3177Ter)
c.9485C>A (p.Ser3162Ter)
n.242C>A
c.9638C>A (p.Ser3213Ter)
c.8543C>A (p.Ser2848Ter)
c.4727C>A (p.Ser1576Ter)
c.4280C>A (p.Ser1427Ter)
c.3617C>A (p.Ser1206Ter)
c.8132C>A (p.Ser2711Ter)
 ClinVar gnomAD v4
5g.13770825A>CCA359204491DNAH5c.9529T>G (p.Ser3177Ala)
c.9484T>G (p.Ser3162Ala)
n.241T>G
c.9637T>G (p.Ser3213Ala)
c.8542T>G (p.Ser2848Ala)
c.4726T>G (p.Ser1576Ala)
c.4279T>G (p.Ser1427Ala)
c.3616T>G (p.Ser1206Ala)
c.8131T>G (p.Ser2711Ala)
5g.13770825A>GCA359204496DNAH5c.9529T>C (p.Ser3177Pro)
c.9484T>C (p.Ser3162Pro)
n.241T>C
c.9637T>C (p.Ser3213Pro)
c.8542T>C (p.Ser2848Pro)
c.4726T>C (p.Ser1576Pro)
c.4279T>C (p.Ser1427Pro)
c.3616T>C (p.Ser1206Pro)
c.8131T>C (p.Ser2711Pro)
5g.13770825A>TCA359204494DNAH5c.9529T>A (p.Ser3177Thr)
c.9484T>A (p.Ser3162Thr)
n.241T>A
c.9637T>A (p.Ser3213Thr)
c.8542T>A (p.Ser2848Thr)
c.4726T>A (p.Ser1576Thr)
c.4279T>A (p.Ser1427Thr)
c.3616T>A (p.Ser1206Thr)
c.8131T>A (p.Ser2711Thr)
5g.13770826T>ACA359204498DNAH5c.9528A>T (p.Lys3176Asn)
c.9483A>T (p.Lys3161Asn)
n.240A>T
c.9636A>T (p.Lys3212Asn)
c.8541A>T (p.Lys2847Asn)
c.4725A>T (p.Lys1575Asn)
c.4278A>T (p.Lys1426Asn)
c.3615A>T (p.Lys1205Asn)
c.8130A>T (p.Lys2710Asn)
5g.13770826T>CCA443535566DNAH5c.9528A>G (p.Lys3176=)
c.9483A>G (p.Lys3161=)
n.240A>G
c.9636A>G (p.Lys3212=)
c.8541A>G (p.Lys2847=)
c.4725A>G (p.Lys1575=)
c.4278A>G (p.Lys1426=)
c.3615A>G (p.Lys1205=)
c.8130A>G (p.Lys2710=)
5g.13770826T>GCA359204501DNAH5c.9528A>C (p.Lys3176Asn)
c.9483A>C (p.Lys3161Asn)
n.240A>C
c.9636A>C (p.Lys3212Asn)
c.8541A>C (p.Lys2847Asn)
c.4725A>C (p.Lys1575Asn)
c.4278A>C (p.Lys1426Asn)
c.3615A>C (p.Lys1205Asn)
c.8130A>C (p.Lys2710Asn)
5g.13770827T>ACA359204502DNAH5c.9527A>T (p.Lys3176Ile)
c.9482A>T (p.Lys3161Ile)
n.239A>T
c.9635A>T (p.Lys3212Ile)
c.8540A>T (p.Lys2847Ile)
c.4724A>T (p.Lys1575Ile)
c.4277A>T (p.Lys1426Ile)
c.3614A>T (p.Lys1205Ile)
c.8129A>T (p.Lys2710Ile)
5g.13770827T>CCA359204505DNAH5c.9527A>G (p.Lys3176Arg)
c.9482A>G (p.Lys3161Arg)
n.239A>G
c.9635A>G (p.Lys3212Arg)
c.8540A>G (p.Lys2847Arg)
c.4724A>G (p.Lys1575Arg)
c.4277A>G (p.Lys1426Arg)
c.3614A>G (p.Lys1205Arg)
c.8129A>G (p.Lys2710Arg)
5g.13770827T>GCA359204507DNAH5c.9527A>C (p.Lys3176Thr)
c.9482A>C (p.Lys3161Thr)
n.239A>C
c.9635A>C (p.Lys3212Thr)
c.8540A>C (p.Lys2847Thr)
c.4724A>C (p.Lys1575Thr)
c.4277A>C (p.Lys1426Thr)
c.3614A>C (p.Lys1205Thr)
c.8129A>C (p.Lys2710Thr)
5g.13770828T>ACA359204510DNAH5c.9526A>T (p.Lys3176Ter)
c.9481A>T (p.Lys3161Ter)
n.238A>T
c.9634A>T (p.Lys3212Ter)
c.8539A>T (p.Lys2847Ter)
c.4723A>T (p.Lys1575Ter)
c.4276A>T (p.Lys1426Ter)
c.3613A>T (p.Lys1205Ter)
c.8128A>T (p.Lys2710Ter)
5g.13770828T>CCA359204512DNAH5c.9526A>G (p.Lys3176Glu)
c.9481A>G (p.Lys3161Glu)
n.238A>G
c.9634A>G (p.Lys3212Glu)
c.8539A>G (p.Lys2847Glu)
c.4723A>G (p.Lys1575Glu)
c.4276A>G (p.Lys1426Glu)
c.3613A>G (p.Lys1205Glu)
c.8128A>G (p.Lys2710Glu)
5g.13770828T>GCA359204515DNAH5c.9526A>C (p.Lys3176Gln)
c.9481A>C (p.Lys3161Gln)
n.238A>C
c.9634A>C (p.Lys3212Gln)
c.8539A>C (p.Lys2847Gln)
c.4723A>C (p.Lys1575Gln)
c.4276A>C (p.Lys1426Gln)
c.3613A>C (p.Lys1205Gln)
c.8128A>C (p.Lys2710Gln)
5g.13770829G>ACA113932908DNAH5c.9525C>T (p.Pro3175=)
c.9480C>T (p.Pro3160=)
n.237C>T
c.9633C>T (p.Pro3211=)
c.8538C>T (p.Pro2846=)
c.4722C>T (p.Pro1574=)
c.4275C>T (p.Pro1425=)
c.3612C>T (p.Pro1204=)
c.8127C>T (p.Pro2709=)
 dbSNP
5g.13770829G>CCA443535570DNAH5c.9525C>G (p.Pro3175=)
c.9480C>G (p.Pro3160=)
n.237C>G
c.9633C>G (p.Pro3211=)
c.8538C>G (p.Pro2846=)
c.4722C>G (p.Pro1574=)
c.4275C>G (p.Pro1425=)
c.3612C>G (p.Pro1204=)
c.8127C>G (p.Pro2709=)
5g.13770829G=CA1528431201DNAH5c.9525C= (p.Pro3175=)
c.9480C= (p.Pro3160=)
n.237C=
c.9633C= (p.Pro3211=)
c.8538C= (p.Pro2846=)
c.4722C= (p.Pro1574=)
c.4275C= (p.Pro1425=)
c.3612C= (p.Pro1204=)
c.8127C= (p.Pro2709=)
5g.13770829G>TCA443535571DNAH5c.9525C>A (p.Pro3175=)
c.9480C>A (p.Pro3160=)
n.237C>A
c.9633C>A (p.Pro3211=)
c.8538C>A (p.Pro2846=)
c.4722C>A (p.Pro1574=)
c.4275C>A (p.Pro1425=)
c.3612C>A (p.Pro1204=)
c.8127C>A (p.Pro2709=)
5g.13770830_13770831dupCA2765348512DNAH5c.9524_9525dup (p.Lys3176ProfsTer29)
c.9479_9480dup (p.Lys3161ProfsTer29)
n.236_237dup
c.9632_9633dup (p.Lys3212ProfsTer29)
c.8537_8538dup (p.Lys2847ProfsTer29)
c.9632_9633dup (p.Lys3212ProfsTer?)
c.4721_4722dup (p.Lys1575ProfsTer29)
c.4274_4275dup (p.Lys1426ProfsTer29)
c.3611_3612dup (p.Lys1205ProfsTer29)
c.8126_8127dup (p.Lys2710ProfsTer29)
5g.13770830G>ACA359204518DNAH5c.9524C>T (p.Pro3175Leu)
c.9479C>T (p.Pro3160Leu)
n.236C>T
c.9632C>T (p.Pro3211Leu)
c.8537C>T (p.Pro2846Leu)
c.4721C>T (p.Pro1574Leu)
c.4274C>T (p.Pro1425Leu)
c.3611C>T (p.Pro1204Leu)
c.8126C>T (p.Pro2709Leu)
5g.13770830G>CCA359204521DNAH5c.9524C>G (p.Pro3175Arg)
c.9479C>G (p.Pro3160Arg)
n.236C>G
c.9632C>G (p.Pro3211Arg)
c.8537C>G (p.Pro2846Arg)
c.4721C>G (p.Pro1574Arg)
c.4274C>G (p.Pro1425Arg)
c.3611C>G (p.Pro1204Arg)
c.8126C>G (p.Pro2709Arg)
5g.13770830G>TCA359204523DNAH5c.9524C>A (p.Pro3175His)
c.9479C>A (p.Pro3160His)
n.236C>A
c.9632C>A (p.Pro3211His)
c.8537C>A (p.Pro2846His)
c.4721C>A (p.Pro1574His)
c.4274C>A (p.Pro1425His)
c.3611C>A (p.Pro1204His)
c.8126C>A (p.Pro2709His)
5g.13770831G>ACA359204531DNAH5c.9523C>T (p.Pro3175Ser)
c.9478C>T (p.Pro3160Ser)
n.235C>T
c.9631C>T (p.Pro3211Ser)
c.8536C>T (p.Pro2846Ser)
c.4720C>T (p.Pro1574Ser)
c.4273C>T (p.Pro1425Ser)
c.3610C>T (p.Pro1204Ser)
c.8125C>T (p.Pro2709Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770831G>CCA359204525DNAH5c.9523C>G (p.Pro3175Ala)
c.9478C>G (p.Pro3160Ala)
n.235C>G
c.9631C>G (p.Pro3211Ala)
c.8536C>G (p.Pro2846Ala)
c.4720C>G (p.Pro1574Ala)
c.4273C>G (p.Pro1425Ala)
c.3610C>G (p.Pro1204Ala)
c.8125C>G (p.Pro2709Ala)
5g.13770831G=CA1528431202DNAH5c.9523C= (p.Pro3175=)
c.9478C= (p.Pro3160=)
n.235C=
c.9631C= (p.Pro3211=)
c.8536C= (p.Pro2846=)
c.4720C= (p.Pro1574=)
c.4273C= (p.Pro1425=)
c.3610C= (p.Pro1204=)
c.8125C= (p.Pro2709=)
5g.13770831G>TCA359204528DNAH5c.9523C>A (p.Pro3175Thr)
c.9478C>A (p.Pro3160Thr)
n.235C>A
c.9631C>A (p.Pro3211Thr)
c.8536C>A (p.Pro2846Thr)
c.4720C>A (p.Pro1574Thr)
c.4273C>A (p.Pro1425Thr)
c.3610C>A (p.Pro1204Thr)
c.8125C>A (p.Pro2709Thr)
 gnomAD v4
5g.13770832C>ACA443535573DNAH5c.9522G>T (p.Thr3174=)
c.9477G>T (p.Thr3159=)
n.234G>T
c.9630G>T (p.Thr3210=)
c.8535G>T (p.Thr2845=)
c.4719G>T (p.Thr1573=)
c.4272G>T (p.Thr1424=)
c.3609G>T (p.Thr1203=)
c.8124G>T (p.Thr2708=)
 ClinVar dbSNP gnomAD v4
5g.13770832C=CA1528431203DNAH5c.9522G= (p.Thr3174=)
c.9477G= (p.Thr3159=)
n.234G=
c.9630G= (p.Thr3210=)
c.8535G= (p.Thr2845=)
c.4719G= (p.Thr1573=)
c.4272G= (p.Thr1424=)
c.3609G= (p.Thr1203=)
c.8124G= (p.Thr2708=)
5g.13770832C>GCA443535574DNAH5c.9522G>C (p.Thr3174=)
c.9477G>C (p.Thr3159=)
n.234G>C
c.9630G>C (p.Thr3210=)
c.8535G>C (p.Thr2845=)
c.4719G>C (p.Thr1573=)
c.4272G>C (p.Thr1424=)
c.3609G>C (p.Thr1203=)
c.8124G>C (p.Thr2708=)
5g.13770832C>TCA3202526DNAH5c.9522G>A (p.Thr3174=)
c.9477G>A (p.Thr3159=)
n.234G>A
c.9630G>A (p.Thr3210=)
c.8535G>A (p.Thr2845=)
c.4719G>A (p.Thr1573=)
c.4272G>A (p.Thr1424=)
c.3609G>A (p.Thr1203=)
c.8124G>A (p.Thr2708=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770833G>ACA3202527DNAH5c.9521C>T (p.Thr3174Met)
c.9476C>T (p.Thr3159Met)
n.233C>T
c.9629C>T (p.Thr3210Met)
c.8534C>T (p.Thr2845Met)
c.4718C>T (p.Thr1573Met)
c.4271C>T (p.Thr1424Met)
c.3608C>T (p.Thr1203Met)
c.8123C>T (p.Thr2708Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770833G>CCA359204539DNAH5c.9521C>G (p.Thr3174Arg)
c.9476C>G (p.Thr3159Arg)
n.233C>G
c.9629C>G (p.Thr3210Arg)
c.8534C>G (p.Thr2845Arg)
c.4718C>G (p.Thr1573Arg)
c.4271C>G (p.Thr1424Arg)
c.3608C>G (p.Thr1203Arg)
c.8123C>G (p.Thr2708Arg)
5g.13770833G=CA1528431204DNAH5c.9521C= (p.Thr3174=)
c.9476C= (p.Thr3159=)
n.233C=
c.9629C= (p.Thr3210=)
c.8534C= (p.Thr2845=)
c.4718C= (p.Thr1573=)
c.4271C= (p.Thr1424=)
c.3608C= (p.Thr1203=)
c.8123C= (p.Thr2708=)
5g.13770833G>TCA359204541DNAH5c.9521C>A (p.Thr3174Lys)
c.9476C>A (p.Thr3159Lys)
n.233C>A
c.9629C>A (p.Thr3210Lys)
c.8534C>A (p.Thr2845Lys)
c.4718C>A (p.Thr1573Lys)
c.4271C>A (p.Thr1424Lys)
c.3608C>A (p.Thr1203Lys)
c.8123C>A (p.Thr2708Lys)
5g.13770834T>ACA359204543DNAH5c.9520A>T (p.Thr3174Ser)
c.9475A>T (p.Thr3159Ser)
n.232A>T
c.9628A>T (p.Thr3210Ser)
c.8533A>T (p.Thr2845Ser)
c.4717A>T (p.Thr1573Ser)
c.4270A>T (p.Thr1424Ser)
c.3607A>T (p.Thr1203Ser)
c.8122A>T (p.Thr2708Ser)
5g.13770834T>CCA359204544DNAH5c.9520A>G (p.Thr3174Ala)
c.9475A>G (p.Thr3159Ala)
n.232A>G
c.9628A>G (p.Thr3210Ala)
c.8533A>G (p.Thr2845Ala)
c.4717A>G (p.Thr1573Ala)
c.4270A>G (p.Thr1424Ala)
c.3607A>G (p.Thr1203Ala)
c.8122A>G (p.Thr2708Ala)
5g.13770834T>GCA359204546DNAH5c.9520A>C (p.Thr3174Pro)
c.9475A>C (p.Thr3159Pro)
n.232A>C
c.9628A>C (p.Thr3210Pro)
c.8533A>C (p.Thr2845Pro)
c.4717A>C (p.Thr1573Pro)
c.4270A>C (p.Thr1424Pro)
c.3607A>C (p.Thr1203Pro)
c.8122A>C (p.Thr2708Pro)
5g.13770835delCA2673268302DNAH5c.9519del (p.Thr3174ArgfsTer?)
c.9474del (p.Thr3159ArgfsTer?)
n.231del
c.9627del (p.Thr3210ArgfsTer?)
c.8532del (p.Thr2845ArgfsTer?)
c.4716del (p.Thr1573ArgfsTer?)
c.4269del (p.Thr1424ArgfsTer?)
c.3606del (p.Thr1203ArgfsTer?)
c.8121del (p.Thr2708ArgfsTer?)
 gnomAD v4
5g.13770835C>ACA443535575DNAH5c.9519G>T (p.Val3173=)
c.9474G>T (p.Val3158=)
n.231G>T
c.9627G>T (p.Val3209=)
c.8532G>T (p.Val2844=)
c.4716G>T (p.Val1572=)
c.4269G>T (p.Val1423=)
c.3606G>T (p.Val1202=)
c.8121G>T (p.Val2707=)
5g.13770835C>GCA443535576DNAH5c.9519G>C (p.Val3173=)
c.9474G>C (p.Val3158=)
n.231G>C
c.9627G>C (p.Val3209=)
c.8532G>C (p.Val2844=)
c.4716G>C (p.Val1572=)
c.4269G>C (p.Val1423=)
c.3606G>C (p.Val1202=)
c.8121G>C (p.Val2707=)
5g.13770835C>TCA443535577DNAH5c.9519G>A (p.Val3173=)
c.9474G>A (p.Val3158=)
n.231G>A
c.9627G>A (p.Val3209=)
c.8532G>A (p.Val2844=)
c.4716G>A (p.Val1572=)
c.4269G>A (p.Val1423=)
c.3606G>A (p.Val1202=)
c.8121G>A (p.Val2707=)
 gnomAD v4
5g.13770836A>CCA359204549DNAH5c.9518T>G (p.Val3173Gly)
c.9473T>G (p.Val3158Gly)
n.230T>G
c.9626T>G (p.Val3209Gly)
c.8531T>G (p.Val2844Gly)
c.4715T>G (p.Val1572Gly)
c.4268T>G (p.Val1423Gly)
c.3605T>G (p.Val1202Gly)
c.8120T>G (p.Val2707Gly)
5g.13770836A>GCA359204551DNAH5c.9518T>C (p.Val3173Ala)
c.9473T>C (p.Val3158Ala)
n.230T>C
c.9626T>C (p.Val3209Ala)
c.8531T>C (p.Val2844Ala)
c.4715T>C (p.Val1572Ala)
c.4268T>C (p.Val1423Ala)
c.3605T>C (p.Val1202Ala)
c.8120T>C (p.Val2707Ala)
5g.13770836A>TCA359204554DNAH5c.9518T>A (p.Val3173Glu)
c.9473T>A (p.Val3158Glu)
n.230T>A
c.9626T>A (p.Val3209Glu)
c.8531T>A (p.Val2844Glu)
c.4715T>A (p.Val1572Glu)
c.4268T>A (p.Val1423Glu)
c.3605T>A (p.Val1202Glu)
c.8120T>A (p.Val2707Glu)
 gnomAD v4
5g.13770837C>ACA113932931DNAH5c.9517G>T (p.Val3173Leu)
c.9472G>T (p.Val3158Leu)
n.229G>T
c.9625G>T (p.Val3209Leu)
c.8530G>T (p.Val2844Leu)
c.4714G>T (p.Val1572Leu)
c.4267G>T (p.Val1423Leu)
c.3604G>T (p.Val1202Leu)
c.8119G>T (p.Val2707Leu)
 dbSNP gnomAD v4
5g.13770837C=CA1528431205DNAH5c.9517G= (p.Val3173=)
c.9472G= (p.Val3158=)
n.229G=
c.9625G= (p.Val3209=)
c.8530G= (p.Val2844=)
c.4714G= (p.Val1572=)
c.4267G= (p.Val1423=)
c.3604G= (p.Val1202=)
c.8119G= (p.Val2707=)
5g.13770837C>GCA359204560DNAH5c.9517G>C (p.Val3173Leu)
c.9472G>C (p.Val3158Leu)
n.229G>C
c.9625G>C (p.Val3209Leu)
c.8530G>C (p.Val2844Leu)
c.4714G>C (p.Val1572Leu)
c.4267G>C (p.Val1423Leu)
c.3604G>C (p.Val1202Leu)
c.8119G>C (p.Val2707Leu)
5g.13770837C>TCA3202528DNAH5c.9517G>A (p.Val3173Met)
c.9472G>A (p.Val3158Met)
n.229G>A
c.9625G>A (p.Val3209Met)
c.8530G>A (p.Val2844Met)
c.4714G>A (p.Val1572Met)
c.4267G>A (p.Val1423Met)
c.3604G>A (p.Val1202Met)
c.8119G>A (p.Val2707Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770838G>ACA443535579DNAH5c.9516C>T (p.His3172=)
c.9471C>T (p.His3157=)
n.228C>T
c.9624C>T (p.His3208=)
c.8529C>T (p.His2843=)
c.4713C>T (p.His1571=)
c.4266C>T (p.His1422=)
c.3603C>T (p.His1201=)
c.8118C>T (p.His2706=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770838G>CCA359204562DNAH5c.9516C>G (p.His3172Gln)
c.9471C>G (p.His3157Gln)
n.228C>G
c.9624C>G (p.His3208Gln)
c.8529C>G (p.His2843Gln)
c.4713C>G (p.His1571Gln)
c.4266C>G (p.His1422Gln)
c.3603C>G (p.His1201Gln)
c.8118C>G (p.His2706Gln)
5g.13770838G=CA1528431206DNAH5c.9516C= (p.His3172=)
c.9471C= (p.His3157=)
n.228C=
c.9624C= (p.His3208=)
c.8529C= (p.His2843=)
c.4713C= (p.His1571=)
c.4266C= (p.His1422=)
c.3603C= (p.His1201=)
c.8118C= (p.His2706=)
5g.13770838G>TCA359204565DNAH5c.9516C>A (p.His3172Gln)
c.9471C>A (p.His3157Gln)
n.228C>A
c.9624C>A (p.His3208Gln)
c.8529C>A (p.His2843Gln)
c.4713C>A (p.His1571Gln)
c.4266C>A (p.His1422Gln)
c.3603C>A (p.His1201Gln)
c.8118C>A (p.His2706Gln)
5g.13770839T>ACA359204568DNAH5c.9515A>T (p.His3172Leu)
c.9470A>T (p.His3157Leu)
n.227A>T
c.9623A>T (p.His3208Leu)
c.8528A>T (p.His2843Leu)
c.4712A>T (p.His1571Leu)
c.4265A>T (p.His1422Leu)
c.3602A>T (p.His1201Leu)
c.8117A>T (p.His2706Leu)
5g.13770839T>CCA359204570DNAH5c.9515A>G (p.His3172Arg)
c.9470A>G (p.His3157Arg)
n.227A>G
c.9623A>G (p.His3208Arg)
c.8528A>G (p.His2843Arg)
c.4712A>G (p.His1571Arg)
c.4265A>G (p.His1422Arg)
c.3602A>G (p.His1201Arg)
c.8117A>G (p.His2706Arg)
5g.13770839T>GCA3202529DNAH5c.9515A>C (p.His3172Pro)
c.9470A>C (p.His3157Pro)
n.227A>C
c.9623A>C (p.His3208Pro)
c.8528A>C (p.His2843Pro)
c.4712A>C (p.His1571Pro)
c.4265A>C (p.His1422Pro)
c.3602A>C (p.His1201Pro)
c.8117A>C (p.His2706Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770839T=CA1528431207DNAH5c.9515A= (p.His3172=)
c.9470A= (p.His3157=)
n.227A=
c.9623A= (p.His3208=)
c.8528A= (p.His2843=)
c.4712A= (p.His1571=)
c.4265A= (p.His1422=)
c.3602A= (p.His1201=)
c.8117A= (p.His2706=)
5g.13770840G>ACA359204578DNAH5c.9514C>T (p.His3172Tyr)
c.9469C>T (p.His3157Tyr)
n.226C>T
c.9622C>T (p.His3208Tyr)
c.8527C>T (p.His2843Tyr)
c.4711C>T (p.His1571Tyr)
c.4264C>T (p.His1422Tyr)
c.3601C>T (p.His1201Tyr)
c.8116C>T (p.His2706Tyr)
5g.13770840G>CCA3202530DNAH5c.9514C>G (p.His3172Asp)
c.9469C>G (p.His3157Asp)
n.226C>G
c.9622C>G (p.His3208Asp)
c.8527C>G (p.His2843Asp)
c.4711C>G (p.His1571Asp)
c.4264C>G (p.His1422Asp)
c.3601C>G (p.His1201Asp)
c.8116C>G (p.His2706Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770840G=CA1528431208DNAH5c.9514C= (p.His3172=)
c.9469C= (p.His3157=)
n.226C=
c.9622C= (p.His3208=)
c.8527C= (p.His2843=)
c.4711C= (p.His1571=)
c.4264C= (p.His1422=)
c.3601C= (p.His1201=)
c.8116C= (p.His2706=)
5g.13770840G>TCA359204574DNAH5c.9514C>A (p.His3172Asn)
c.9469C>A (p.His3157Asn)
n.226C>A
c.9622C>A (p.His3208Asn)
c.8527C>A (p.His2843Asn)
c.4711C>A (p.His1571Asn)
c.4264C>A (p.His1422Asn)
c.3601C>A (p.His1201Asn)
c.8116C>A (p.His2706Asn)
5g.13770842dupCA557876482DNAH5c.9514dup (p.His3172ProfsTer15)
c.9469dup (p.His3157ProfsTer15)
n.226dup
c.9622dup (p.His3208ProfsTer15)
c.8527dup (p.His2843ProfsTer15)
c.4711dup (p.His1571ProfsTer15)
c.4264dup (p.His1422ProfsTer15)
c.3601dup (p.His1201ProfsTer15)
c.8116dup (p.His2706ProfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13770841G>ACA443535581DNAH5c.9513C>T (p.Thr3171=)
c.9468C>T (p.Thr3156=)
n.225C>T
c.9621C>T (p.Thr3207=)
c.8526C>T (p.Thr2842=)
c.4710C>T (p.Thr1570=)
c.4263C>T (p.Thr1421=)
c.3600C>T (p.Thr1200=)
c.8115C>T (p.Thr2705=)
5g.13770841G>CCA443535583DNAH5c.9513C>G (p.Thr3171=)
c.9468C>G (p.Thr3156=)
n.225C>G
c.9621C>G (p.Thr3207=)
c.8526C>G (p.Thr2842=)
c.4710C>G (p.Thr1570=)
c.4263C>G (p.Thr1421=)
c.3600C>G (p.Thr1200=)
c.8115C>G (p.Thr2705=)
5g.13770841G>TCA443535582DNAH5c.9513C>A (p.Thr3171=)
c.9468C>A (p.Thr3156=)
n.225C>A
c.9621C>A (p.Thr3207=)
c.8526C>A (p.Thr2842=)
c.4710C>A (p.Thr1570=)
c.4263C>A (p.Thr1421=)
c.3600C>A (p.Thr1200=)
c.8115C>A (p.Thr2705=)
5g.13770842G>ACA359204580DNAH5c.9512C>T (p.Thr3171Ile)
c.9467C>T (p.Thr3156Ile)
n.224C>T
c.9620C>T (p.Thr3207Ile)
c.8525C>T (p.Thr2842Ile)
c.4709C>T (p.Thr1570Ile)
c.4262C>T (p.Thr1421Ile)
c.3599C>T (p.Thr1200Ile)
c.8114C>T (p.Thr2705Ile)
 gnomAD v4
5g.13770842G>CCA359204582DNAH5c.9512C>G (p.Thr3171Ser)
c.9467C>G (p.Thr3156Ser)
n.224C>G
c.9620C>G (p.Thr3207Ser)
c.8525C>G (p.Thr2842Ser)
c.4709C>G (p.Thr1570Ser)
c.4262C>G (p.Thr1421Ser)
c.3599C>G (p.Thr1200Ser)
c.8114C>G (p.Thr2705Ser)
5g.13770842G>TCA359204583DNAH5c.9512C>A (p.Thr3171Asn)
c.9467C>A (p.Thr3156Asn)
n.224C>A
c.9620C>A (p.Thr3207Asn)
c.8525C>A (p.Thr2842Asn)
c.4709C>A (p.Thr1570Asn)
c.4262C>A (p.Thr1421Asn)
c.3599C>A (p.Thr1200Asn)
c.8114C>A (p.Thr2705Asn)
5g.13770843T>ACA3202531DNAH5c.9511A>T (p.Thr3171Ser)
c.9466A>T (p.Thr3156Ser)
n.223A>T
c.9619A>T (p.Thr3207Ser)
c.8524A>T (p.Thr2842Ser)
c.4708A>T (p.Thr1570Ser)
c.4261A>T (p.Thr1421Ser)
c.3598A>T (p.Thr1200Ser)
c.8113A>T (p.Thr2705Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770843T>CCA3202532DNAH5c.9511A>G (p.Thr3171Ala)
c.9466A>G (p.Thr3156Ala)
n.223A>G
c.9619A>G (p.Thr3207Ala)
c.8524A>G (p.Thr2842Ala)
c.4708A>G (p.Thr1570Ala)
c.4261A>G (p.Thr1421Ala)
c.3598A>G (p.Thr1200Ala)
c.8113A>G (p.Thr2705Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770843T>GCA359204589DNAH5c.9511A>C (p.Thr3171Pro)
c.9466A>C (p.Thr3156Pro)
n.223A>C
c.9619A>C (p.Thr3207Pro)
c.8524A>C (p.Thr2842Pro)
c.4708A>C (p.Thr1570Pro)
c.4261A>C (p.Thr1421Pro)
c.3598A>C (p.Thr1200Pro)
c.8113A>C (p.Thr2705Pro)
 ClinVar dbSNP
5g.13770843T=CA1528431209DNAH5c.9511A= (p.Thr3171=)
c.9466A= (p.Thr3156=)
n.223A=
c.9619A= (p.Thr3207=)
c.8524A= (p.Thr2842=)
c.4708A= (p.Thr1570=)
c.4261A= (p.Thr1421=)
c.3598A= (p.Thr1200=)
c.8113A= (p.Thr2705=)
5g.13770844A>CCA443535584DNAH5c.9510T>G (p.Ser3170=)
c.9465T>G (p.Ser3155=)
n.222T>G
c.9618T>G (p.Ser3206=)
c.8523T>G (p.Ser2841=)
c.4707T>G (p.Ser1569=)
c.4260T>G (p.Ser1420=)
c.3597T>G (p.Ser1199=)
c.8112T>G (p.Ser2704=)
5g.13770844A>GCA443535585DNAH5c.9510T>C (p.Ser3170=)
c.9465T>C (p.Ser3155=)
n.222T>C
c.9618T>C (p.Ser3206=)
c.8523T>C (p.Ser2841=)
c.4707T>C (p.Ser1569=)
c.4260T>C (p.Ser1420=)
c.3597T>C (p.Ser1199=)
c.8112T>C (p.Ser2704=)
5g.13770844A>TCA443535586DNAH5c.9510T>A (p.Ser3170=)
c.9465T>A (p.Ser3155=)
n.222T>A
c.9618T>A (p.Ser3206=)
c.8523T>A (p.Ser2841=)
c.4707T>A (p.Ser1569=)
c.4260T>A (p.Ser1420=)
c.3597T>A (p.Ser1199=)
c.8112T>A (p.Ser2704=)
5g.13770845G>ACA359204592DNAH5c.9509C>T (p.Ser3170Phe)
c.9464C>T (p.Ser3155Phe)
n.221C>T
c.9617C>T (p.Ser3206Phe)
c.8522C>T (p.Ser2841Phe)
c.4706C>T (p.Ser1569Phe)
c.4259C>T (p.Ser1420Phe)
c.3596C>T (p.Ser1199Phe)
c.8111C>T (p.Ser2704Phe)
5g.13770845G>CCA359204596DNAH5c.9509C>G (p.Ser3170Cys)
c.9464C>G (p.Ser3155Cys)
n.221C>G
c.9617C>G (p.Ser3206Cys)
c.8522C>G (p.Ser2841Cys)
c.4706C>G (p.Ser1569Cys)
c.4259C>G (p.Ser1420Cys)
c.3596C>G (p.Ser1199Cys)
c.8111C>G (p.Ser2704Cys)
5g.13770845G>TCA359204594DNAH5c.9509C>A (p.Ser3170Tyr)
c.9464C>A (p.Ser3155Tyr)
n.221C>A
c.9617C>A (p.Ser3206Tyr)
c.8522C>A (p.Ser2841Tyr)
c.4706C>A (p.Ser1569Tyr)
c.4259C>A (p.Ser1420Tyr)
c.3596C>A (p.Ser1199Tyr)
c.8111C>A (p.Ser2704Tyr)
5g.13770846A>CCA359204597DNAH5c.9508T>G (p.Ser3170Ala)
c.9463T>G (p.Ser3155Ala)
n.220T>G
c.9616T>G (p.Ser3206Ala)
c.8521T>G (p.Ser2841Ala)
c.4705T>G (p.Ser1569Ala)
c.4258T>G (p.Ser1420Ala)
c.3595T>G (p.Ser1199Ala)
c.8110T>G (p.Ser2704Ala)
5g.13770846A>GCA359204600DNAH5c.9508T>C (p.Ser3170Pro)
c.9463T>C (p.Ser3155Pro)
n.220T>C
c.9616T>C (p.Ser3206Pro)
c.8521T>C (p.Ser2841Pro)
c.4705T>C (p.Ser1569Pro)
c.4258T>C (p.Ser1420Pro)
c.3595T>C (p.Ser1199Pro)
c.8110T>C (p.Ser2704Pro)
5g.13770846A>TCA359204602DNAH5c.9508T>A (p.Ser3170Thr)
c.9463T>A (p.Ser3155Thr)
n.220T>A
c.9616T>A (p.Ser3206Thr)
c.8521T>A (p.Ser2841Thr)
c.4705T>A (p.Ser1569Thr)
c.4258T>A (p.Ser1420Thr)
c.3595T>A (p.Ser1199Thr)
c.8110T>A (p.Ser2704Thr)
5g.13770847A>CCA443535589DNAH5c.9507T>G (p.Arg3169=)
c.9462T>G (p.Arg3154=)
n.219T>G
c.9615T>G (p.Arg3205=)
c.8520T>G (p.Arg2840=)
c.4704T>G (p.Arg1568=)
c.4257T>G (p.Arg1419=)
c.3594T>G (p.Arg1198=)
c.8109T>G (p.Arg2703=)
5g.13770847A>GCA443535590DNAH5c.9507T>C (p.Arg3169=)
c.9462T>C (p.Arg3154=)
n.219T>C
c.9615T>C (p.Arg3205=)
c.8520T>C (p.Arg2840=)
c.4704T>C (p.Arg1568=)
c.4257T>C (p.Arg1419=)
c.3594T>C (p.Arg1198=)
c.8109T>C (p.Arg2703=)
5g.13770847A>TCA443535591DNAH5c.9507T>A (p.Arg3169=)
c.9462T>A (p.Arg3154=)
n.219T>A
c.9615T>A (p.Arg3205=)
c.8520T>A (p.Arg2840=)
c.4704T>A (p.Arg1568=)
c.4257T>A (p.Arg1419=)
c.3594T>A (p.Arg1198=)
c.8109T>A (p.Arg2703=)
5g.13770848C>ACA359204604DNAH5c.9506G>T (p.Arg3169Leu)
c.9461G>T (p.Arg3154Leu)
n.218G>T
c.9614G>T (p.Arg3205Leu)
c.8519G>T (p.Arg2840Leu)
c.4703G>T (p.Arg1568Leu)
c.4256G>T (p.Arg1419Leu)
c.3593G>T (p.Arg1198Leu)
c.8108G>T (p.Arg2703Leu)
5g.13770848C=CA1528431210DNAH5c.9506G= (p.Arg3169=)
c.9461G= (p.Arg3154=)
n.218G=
c.9614G= (p.Arg3205=)
c.8519G= (p.Arg2840=)
c.4703G= (p.Arg1568=)
c.4256G= (p.Arg1419=)
c.3593G= (p.Arg1198=)
c.8108G= (p.Arg2703=)
5g.13770848C>GCA359204606DNAH5c.9506G>C (p.Arg3169Pro)
c.9461G>C (p.Arg3154Pro)
n.218G>C
c.9614G>C (p.Arg3205Pro)
c.8519G>C (p.Arg2840Pro)
c.4703G>C (p.Arg1568Pro)
c.4256G>C (p.Arg1419Pro)
c.3593G>C (p.Arg1198Pro)
c.8108G>C (p.Arg2703Pro)
5g.13770848C>TCA359204608DNAH5c.9506G>A (p.Arg3169His)
c.9461G>A (p.Arg3154His)
n.218G>A
c.9614G>A (p.Arg3205His)
c.8519G>A (p.Arg2840His)
c.4703G>A (p.Arg1568His)
c.4256G>A (p.Arg1419His)
c.3593G>A (p.Arg1198His)
c.8108G>A (p.Arg2703His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770849G>ACA3202533DNAH5c.9505C>T (p.Arg3169Cys)
c.9460C>T (p.Arg3154Cys)
n.217C>T
c.9613C>T (p.Arg3205Cys)
c.8518C>T (p.Arg2840Cys)
c.4702C>T (p.Arg1568Cys)
c.4255C>T (p.Arg1419Cys)
c.3592C>T (p.Arg1198Cys)
c.8107C>T (p.Arg2703Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770849G>CCA359204611DNAH5c.9505C>G (p.Arg3169Gly)
c.9460C>G (p.Arg3154Gly)
n.217C>G
c.9613C>G (p.Arg3205Gly)
c.8518C>G (p.Arg2840Gly)
c.4702C>G (p.Arg1568Gly)
c.4255C>G (p.Arg1419Gly)
c.3592C>G (p.Arg1198Gly)
c.8107C>G (p.Arg2703Gly)
5g.13770849G=CA1528431211DNAH5c.9505C= (p.Arg3169=)
c.9460C= (p.Arg3154=)
n.217C=
c.9613C= (p.Arg3205=)
c.8518C= (p.Arg2840=)
c.4702C= (p.Arg1568=)
c.4255C= (p.Arg1419=)
c.3592C= (p.Arg1198=)
c.8107C= (p.Arg2703=)
5g.13770849G>TCA3202534DNAH5c.9505C>A (p.Arg3169Ser)
c.9460C>A (p.Arg3154Ser)
n.217C>A
c.9613C>A (p.Arg3205Ser)
c.8518C>A (p.Arg2840Ser)
c.4702C>A (p.Arg1568Ser)
c.4255C>A (p.Arg1419Ser)
c.3592C>A (p.Arg1198Ser)
c.8107C>A (p.Arg2703Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770850T>ACA443535597DNAH5c.9504A>T (p.Arg3168=)
c.9459A>T (p.Arg3153=)
n.216A>T
c.9612A>T (p.Arg3204=)
c.8517A>T (p.Arg2839=)
c.4701A>T (p.Arg1567=)
c.4254A>T (p.Arg1418=)
c.3591A>T (p.Arg1197=)
c.8106A>T (p.Arg2702=)
5g.13770850T>CCA443535598DNAH5c.9504A>G (p.Arg3168=)
c.9459A>G (p.Arg3153=)
n.216A>G
c.9612A>G (p.Arg3204=)
c.8517A>G (p.Arg2839=)
c.4701A>G (p.Arg1567=)
c.4254A>G (p.Arg1418=)
c.3591A>G (p.Arg1197=)
c.8106A>G (p.Arg2702=)
 gnomAD v4
5g.13770850T>GCA443535599DNAH5c.9504A>C (p.Arg3168=)
c.9459A>C (p.Arg3153=)
n.216A>C
c.9612A>C (p.Arg3204=)
c.8517A>C (p.Arg2839=)
c.4701A>C (p.Arg1567=)
c.4254A>C (p.Arg1418=)
c.3591A>C (p.Arg1197=)
c.8106A>C (p.Arg2702=)
5g.13770851C>ACA359204615DNAH5c.9503G>T (p.Arg3168Leu)
c.9458G>T (p.Arg3153Leu)
n.215G>T
c.9611G>T (p.Arg3204Leu)
c.8516G>T (p.Arg2839Leu)
c.4700G>T (p.Arg1567Leu)
c.4253G>T (p.Arg1418Leu)
c.3590G>T (p.Arg1197Leu)
c.8105G>T (p.Arg2702Leu)
5g.13770851C=CA1528431212DNAH5c.9503G= (p.Arg3168=)
c.9458G= (p.Arg3153=)
n.215G=
c.9611G= (p.Arg3204=)
c.8516G= (p.Arg2839=)
c.4700G= (p.Arg1567=)
c.4253G= (p.Arg1418=)
c.3590G= (p.Arg1197=)
c.8105G= (p.Arg2702=)
5g.13770851C>GCA359204617DNAH5c.9503G>C (p.Arg3168Pro)
c.9458G>C (p.Arg3153Pro)
n.215G>C
c.9611G>C (p.Arg3204Pro)
c.8516G>C (p.Arg2839Pro)
c.4700G>C (p.Arg1567Pro)
c.4253G>C (p.Arg1418Pro)
c.3590G>C (p.Arg1197Pro)
c.8105G>C (p.Arg2702Pro)
 COSMIC
5g.13770851C>TCA3202535DNAH5c.9503G>A (p.Arg3168Gln)
c.9458G>A (p.Arg3153Gln)
n.215G>A
c.9611G>A (p.Arg3204Gln)
c.8516G>A (p.Arg2839Gln)
c.4700G>A (p.Arg1567Gln)
c.4253G>A (p.Arg1418Gln)
c.3590G>A (p.Arg1197Gln)
c.8105G>A (p.Arg2702Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770852G>ACA338247DNAH5c.9502C>T (p.Arg3168Ter)
c.9457C>T (p.Arg3153Ter)
n.214C>T
c.9610C>T (p.Arg3204Ter)
c.8515C>T (p.Arg2839Ter)
c.4699C>T (p.Arg1567Ter)
c.4252C>T (p.Arg1418Ter)
c.3589C>T (p.Arg1197Ter)
c.8104C>T (p.Arg2702Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770852G>CCA359204618DNAH5c.9502C>G (p.Arg3168Gly)
c.9457C>G (p.Arg3153Gly)
n.214C>G
c.9610C>G (p.Arg3204Gly)
c.8515C>G (p.Arg2839Gly)
c.4699C>G (p.Arg1567Gly)
c.4252C>G (p.Arg1418Gly)
c.3589C>G (p.Arg1197Gly)
c.8104C>G (p.Arg2702Gly)
5g.13770852G=CA1528431213DNAH5c.9502C= (p.Arg3168=)
c.9457C= (p.Arg3153=)
n.214C=
c.9610C= (p.Arg3204=)
c.8515C= (p.Arg2839=)
c.4699C= (p.Arg1567=)
c.4252C= (p.Arg1418=)
c.3589C= (p.Arg1197=)
c.8104C= (p.Arg2702=)
5g.13770852G>TCA443535601DNAH5c.9502C>A (p.Arg3168=)
c.9457C>A (p.Arg3153=)
n.214C>A
c.9610C>A (p.Arg3204=)
c.8515C>A (p.Arg2839=)
c.4699C>A (p.Arg1567=)
c.4252C>A (p.Arg1418=)
c.3589C>A (p.Arg1197=)
c.8104C>A (p.Arg2702=)
5g.13770853G>ACA443535602DNAH5c.9501C>T (p.Phe3167=)
c.9456C>T (p.Phe3152=)
n.213C>T
c.9609C>T (p.Phe3203=)
c.8514C>T (p.Phe2838=)
c.4698C>T (p.Phe1566=)
c.4251C>T (p.Phe1417=)
c.3588C>T (p.Phe1196=)
c.8103C>T (p.Phe2701=)
5g.13770853G>CCA359204619DNAH5c.9501C>G (p.Phe3167Leu)
c.9456C>G (p.Phe3152Leu)
n.213C>G
c.9609C>G (p.Phe3203Leu)
c.8514C>G (p.Phe2838Leu)
c.4698C>G (p.Phe1566Leu)
c.4251C>G (p.Phe1417Leu)
c.3588C>G (p.Phe1196Leu)
c.8103C>G (p.Phe2701Leu)
5g.13770853G>TCA359204621DNAH5c.9501C>A (p.Phe3167Leu)
c.9456C>A (p.Phe3152Leu)
n.213C>A
c.9609C>A (p.Phe3203Leu)
c.8514C>A (p.Phe2838Leu)
c.4698C>A (p.Phe1566Leu)
c.4251C>A (p.Phe1417Leu)
c.3588C>A (p.Phe1196Leu)
c.8103C>A (p.Phe2701Leu)
5g.13770854A>CCA359204622DNAH5c.9500T>G (p.Phe3167Cys)
c.9455T>G (p.Phe3152Cys)
n.212T>G
c.9608T>G (p.Phe3203Cys)
c.8513T>G (p.Phe2838Cys)
c.4697T>G (p.Phe1566Cys)
c.4250T>G (p.Phe1417Cys)
c.3587T>G (p.Phe1196Cys)
c.8102T>G (p.Phe2701Cys)
5g.13770854A>GCA359204623DNAH5c.9500T>C (p.Phe3167Ser)
c.9455T>C (p.Phe3152Ser)
n.212T>C
c.9608T>C (p.Phe3203Ser)
c.8513T>C (p.Phe2838Ser)
c.4697T>C (p.Phe1566Ser)
c.4250T>C (p.Phe1417Ser)
c.3587T>C (p.Phe1196Ser)
c.8102T>C (p.Phe2701Ser)
5g.13770854A>TCA359204625DNAH5c.9500T>A (p.Phe3167Tyr)
c.9455T>A (p.Phe3152Tyr)
n.212T>A
c.9608T>A (p.Phe3203Tyr)
c.8513T>A (p.Phe2838Tyr)
c.4697T>A (p.Phe1566Tyr)
c.4250T>A (p.Phe1417Tyr)
c.3587T>A (p.Phe1196Tyr)
c.8102T>A (p.Phe2701Tyr)
5g.13770855A>CCA359204628DNAH5c.9499T>G (p.Phe3167Val)
c.9454T>G (p.Phe3152Val)
n.211T>G
c.9607T>G (p.Phe3203Val)
c.8512T>G (p.Phe2838Val)
c.4696T>G (p.Phe1566Val)
c.4249T>G (p.Phe1417Val)
c.3586T>G (p.Phe1196Val)
c.8101T>G (p.Phe2701Val)
5g.13770855A>GCA359204629DNAH5c.9499T>C (p.Phe3167Leu)
c.9454T>C (p.Phe3152Leu)
n.211T>C
c.9607T>C (p.Phe3203Leu)
c.8512T>C (p.Phe2838Leu)
c.4696T>C (p.Phe1566Leu)
c.4249T>C (p.Phe1417Leu)
c.3586T>C (p.Phe1196Leu)
c.8101T>C (p.Phe2701Leu)
5g.13770855A>TCA359204632DNAH5c.9499T>A (p.Phe3167Ile)
c.9454T>A (p.Phe3152Ile)
n.211T>A
c.9607T>A (p.Phe3203Ile)
c.8512T>A (p.Phe2838Ile)
c.4696T>A (p.Phe1566Ile)
c.4249T>A (p.Phe1417Ile)
c.3586T>A (p.Phe1196Ile)
c.8101T>A (p.Phe2701Ile)
5g.13770856T>ACA359204634DNAH5c.9498A>T (p.Arg3166Ser)
c.9453A>T (p.Arg3151Ser)
n.210A>T
c.9606A>T (p.Arg3202Ser)
c.8511A>T (p.Arg2837Ser)
c.4695A>T (p.Arg1565Ser)
c.4248A>T (p.Arg1416Ser)
c.3585A>T (p.Arg1195Ser)
c.8100A>T (p.Arg2700Ser)
5g.13770856T>CCA443535607DNAH5c.9498A>G (p.Arg3166=)
c.9453A>G (p.Arg3151=)
n.210A>G
c.9606A>G (p.Arg3202=)
c.8511A>G (p.Arg2837=)
c.4695A>G (p.Arg1565=)
c.4248A>G (p.Arg1416=)
c.3585A>G (p.Arg1195=)
c.8100A>G (p.Arg2700=)
5g.13770856T>GCA359204636DNAH5c.9498A>C (p.Arg3166Ser)
c.9453A>C (p.Arg3151Ser)
n.210A>C
c.9606A>C (p.Arg3202Ser)
c.8511A>C (p.Arg2837Ser)
c.4695A>C (p.Arg1565Ser)
c.4248A>C (p.Arg1416Ser)
c.3585A>C (p.Arg1195Ser)
c.8100A>C (p.Arg2700Ser)
5g.13770857C>ACA359204638DNAH5c.9497G>T (p.Arg3166Ile)
c.9452G>T (p.Arg3151Ile)
n.209G>T
c.9605G>T (p.Arg3202Ile)
c.8510G>T (p.Arg2837Ile)
c.4694G>T (p.Arg1565Ile)
c.4247G>T (p.Arg1416Ile)
c.3584G>T (p.Arg1195Ile)
c.8099G>T (p.Arg2700Ile)
5g.13770857C>GCA359204640DNAH5c.9497G>C (p.Arg3166Thr)
c.9452G>C (p.Arg3151Thr)
n.209G>C
c.9605G>C (p.Arg3202Thr)
c.8510G>C (p.Arg2837Thr)
c.4694G>C (p.Arg1565Thr)
c.4247G>C (p.Arg1416Thr)
c.3584G>C (p.Arg1195Thr)
c.8099G>C (p.Arg2700Thr)
5g.13770857C>TCA359204643DNAH5c.9497G>A (p.Arg3166Lys)
c.9452G>A (p.Arg3151Lys)
n.209G>A
c.9605G>A (p.Arg3202Lys)
c.8510G>A (p.Arg2837Lys)
c.4694G>A (p.Arg1565Lys)
c.4247G>A (p.Arg1416Lys)
c.3584G>A (p.Arg1195Lys)
c.8099G>A (p.Arg2700Lys)
 gnomAD v4

Number of alleles fetched