Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13753291T>ACA359191066DNAH5c.10814A>T (p.Asp3605Val)
c.10769A>T (p.Asp3590Val)
c.10922A>T (p.Asp3641Val)
c.9827A>T (p.Asp3276Val)
c.6011A>T (p.Asp2004Val)
c.5564A>T (p.Asp1855Val)
c.4901A>T (p.Asp1634Val)
c.9416A>T (p.Asp3139Val)
5g.13753291T>CCA359191067DNAH5c.10814A>G (p.Asp3605Gly)
c.10769A>G (p.Asp3590Gly)
c.10922A>G (p.Asp3641Gly)
c.9827A>G (p.Asp3276Gly)
c.6011A>G (p.Asp2004Gly)
c.5564A>G (p.Asp1855Gly)
c.4901A>G (p.Asp1634Gly)
c.9416A>G (p.Asp3139Gly)
5g.13753291T>GCA359191070DNAH5c.10814A>C (p.Asp3605Ala)
c.10769A>C (p.Asp3590Ala)
c.10922A>C (p.Asp3641Ala)
c.9827A>C (p.Asp3276Ala)
c.6011A>C (p.Asp2004Ala)
c.5564A>C (p.Asp1855Ala)
c.4901A>C (p.Asp1634Ala)
c.9416A>C (p.Asp3139Ala)
5g.13753292C>ACA359191073DNAH5c.10813G>T (p.Asp3605Tyr)
c.10768G>T (p.Asp3590Tyr)
c.10921G>T (p.Asp3641Tyr)
c.9826G>T (p.Asp3276Tyr)
c.6010G>T (p.Asp2004Tyr)
c.5563G>T (p.Asp1855Tyr)
c.4900G>T (p.Asp1634Tyr)
c.9415G>T (p.Asp3139Tyr)
5g.13753292C>GCA359191075DNAH5c.10813G>C (p.Asp3605His)
c.10768G>C (p.Asp3590His)
c.10921G>C (p.Asp3641His)
c.9826G>C (p.Asp3276His)
c.6010G>C (p.Asp2004His)
c.5563G>C (p.Asp1855His)
c.4900G>C (p.Asp1634His)
c.9415G>C (p.Asp3139His)
5g.13753292C>TCA359191077DNAH5c.10813G>A (p.Asp3605Asn)
c.10768G>A (p.Asp3590Asn)
c.10921G>A (p.Asp3641Asn)
c.9826G>A (p.Asp3276Asn)
c.6010G>A (p.Asp2004Asn)
c.5563G>A (p.Asp1855Asn)
c.4900G>A (p.Asp1634Asn)
c.9415G>A (p.Asp3139Asn)
5g.13753293A>CCA359191080DNAH5c.10812T>G (p.Ile3604Met)
c.10767T>G (p.Ile3589Met)
c.10920T>G (p.Ile3640Met)
c.9825T>G (p.Ile3275Met)
c.6009T>G (p.Ile2003Met)
c.5562T>G (p.Ile1854Met)
c.4899T>G (p.Ile1633Met)
c.9414T>G (p.Ile3138Met)
5g.13753293A>GCA443535470DNAH5c.10812T>C (p.Ile3604=)
c.10767T>C (p.Ile3589=)
c.10920T>C (p.Ile3640=)
c.9825T>C (p.Ile3275=)
c.6009T>C (p.Ile2003=)
c.5562T>C (p.Ile1854=)
c.4899T>C (p.Ile1633=)
c.9414T>C (p.Ile3138=)
5g.13753293A>TCA443535471DNAH5c.10812T>A (p.Ile3604=)
c.10767T>A (p.Ile3589=)
c.10920T>A (p.Ile3640=)
c.9825T>A (p.Ile3275=)
c.6009T>A (p.Ile2003=)
c.5562T>A (p.Ile1854=)
c.4899T>A (p.Ile1633=)
c.9414T>A (p.Ile3138=)
5g.13753294A>CCA359191083DNAH5c.10811T>G (p.Ile3604Ser)
c.10766T>G (p.Ile3589Ser)
c.10919T>G (p.Ile3640Ser)
c.9824T>G (p.Ile3275Ser)
c.6008T>G (p.Ile2003Ser)
c.5561T>G (p.Ile1854Ser)
c.4898T>G (p.Ile1633Ser)
c.9413T>G (p.Ile3138Ser)
5g.13753294A>GCA359191087DNAH5c.10811T>C (p.Ile3604Thr)
c.10766T>C (p.Ile3589Thr)
c.10919T>C (p.Ile3640Thr)
c.9824T>C (p.Ile3275Thr)
c.6008T>C (p.Ile2003Thr)
c.5561T>C (p.Ile1854Thr)
c.4898T>C (p.Ile1633Thr)
c.9413T>C (p.Ile3138Thr)
5g.13753294A>TCA359191085DNAH5c.10811T>A (p.Ile3604Asn)
c.10766T>A (p.Ile3589Asn)
c.10919T>A (p.Ile3640Asn)
c.9824T>A (p.Ile3275Asn)
c.6008T>A (p.Ile2003Asn)
c.5561T>A (p.Ile1854Asn)
c.4898T>A (p.Ile1633Asn)
c.9413T>A (p.Ile3138Asn)
5g.13753295T>ACA359191091DNAH5c.10810A>T (p.Ile3604Phe)
c.10765A>T (p.Ile3589Phe)
c.10918A>T (p.Ile3640Phe)
c.9823A>T (p.Ile3275Phe)
c.6007A>T (p.Ile2003Phe)
c.5560A>T (p.Ile1854Phe)
c.4897A>T (p.Ile1633Phe)
c.9412A>T (p.Ile3138Phe)
5g.13753295T>CCA359191096DNAH5c.10810A>G (p.Ile3604Val)
c.10765A>G (p.Ile3589Val)
c.10918A>G (p.Ile3640Val)
c.9823A>G (p.Ile3275Val)
c.6007A>G (p.Ile2003Val)
c.5560A>G (p.Ile1854Val)
c.4897A>G (p.Ile1633Val)
c.9412A>G (p.Ile3138Val)
5g.13753295T>GCA359191093DNAH5c.10810A>C (p.Ile3604Leu)
c.10765A>C (p.Ile3589Leu)
c.10918A>C (p.Ile3640Leu)
c.9823A>C (p.Ile3275Leu)
c.6007A>C (p.Ile2003Leu)
c.5560A>C (p.Ile1854Leu)
c.4897A>C (p.Ile1633Leu)
c.9412A>C (p.Ile3138Leu)
5g.13753296T>ACA359191099DNAH5c.10809A>T (p.Leu3603Phe)
c.10764A>T (p.Leu3588Phe)
c.10917A>T (p.Leu3639Phe)
c.9822A>T (p.Leu3274Phe)
c.6006A>T (p.Leu2002Phe)
c.5559A>T (p.Leu1853Phe)
c.4896A>T (p.Leu1632Phe)
c.9411A>T (p.Leu3137Phe)
5g.13753296T>CCA443535474DNAH5c.10809A>G (p.Leu3603=)
c.10764A>G (p.Leu3588=)
c.10917A>G (p.Leu3639=)
c.9822A>G (p.Leu3274=)
c.6006A>G (p.Leu2002=)
c.5559A>G (p.Leu1853=)
c.4896A>G (p.Leu1632=)
c.9411A>G (p.Leu3137=)
5g.13753296T>GCA359191102DNAH5c.10809A>C (p.Leu3603Phe)
c.10764A>C (p.Leu3588Phe)
c.10917A>C (p.Leu3639Phe)
c.9822A>C (p.Leu3274Phe)
c.6006A>C (p.Leu2002Phe)
c.5559A>C (p.Leu1853Phe)
c.4896A>C (p.Leu1632Phe)
c.9411A>C (p.Leu3137Phe)
5g.13753297A>CCA359191106DNAH5c.10808T>G (p.Leu3603Ter)
c.10763T>G (p.Leu3588Ter)
c.10916T>G (p.Leu3639Ter)
c.9821T>G (p.Leu3274Ter)
c.6005T>G (p.Leu2002Ter)
c.5558T>G (p.Leu1853Ter)
c.4895T>G (p.Leu1632Ter)
c.9410T>G (p.Leu3137Ter)
5g.13753297A>GCA359191107DNAH5c.10808T>C (p.Leu3603Ser)
c.10763T>C (p.Leu3588Ser)
c.10916T>C (p.Leu3639Ser)
c.9821T>C (p.Leu3274Ser)
c.6005T>C (p.Leu2002Ser)
c.5558T>C (p.Leu1853Ser)
c.4895T>C (p.Leu1632Ser)
c.9410T>C (p.Leu3137Ser)
5g.13753297A>TCA359191111DNAH5c.10808T>A (p.Leu3603Ter)
c.10763T>A (p.Leu3588Ter)
c.10916T>A (p.Leu3639Ter)
c.9821T>A (p.Leu3274Ter)
c.6005T>A (p.Leu2002Ter)
c.5558T>A (p.Leu1853Ter)
c.4895T>A (p.Leu1632Ter)
c.9410T>A (p.Leu3137Ter)
5g.13753298A=CA1528423456DNAH5c.10807T= (p.Leu3603=)
c.10762T= (p.Leu3588=)
c.10915T= (p.Leu3639=)
c.9820T= (p.Leu3274=)
c.6004T= (p.Leu2002=)
c.5557T= (p.Leu1853=)
c.4894T= (p.Leu1632=)
c.9409T= (p.Leu3137=)
5g.13753298A>CCA359191116DNAH5c.10807T>G (p.Leu3603Val)
c.10762T>G (p.Leu3588Val)
c.10915T>G (p.Leu3639Val)
c.9820T>G (p.Leu3274Val)
c.6004T>G (p.Leu2002Val)
c.5557T>G (p.Leu1853Val)
c.4894T>G (p.Leu1632Val)
c.9409T>G (p.Leu3137Val)
5g.13753298A>GCA443535475DNAH5c.10807T>C (p.Leu3603=)
c.10762T>C (p.Leu3588=)
c.10915T>C (p.Leu3639=)
c.9820T>C (p.Leu3274=)
c.6004T>C (p.Leu2002=)
c.5557T>C (p.Leu1853=)
c.4894T>C (p.Leu1632=)
c.9409T>C (p.Leu3137=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13753298A>TCA359191119DNAH5c.10807T>A (p.Leu3603Ile)
c.10762T>A (p.Leu3588Ile)
c.10915T>A (p.Leu3639Ile)
c.9820T>A (p.Leu3274Ile)
c.6004T>A (p.Leu2002Ile)
c.5557T>A (p.Leu1853Ile)
c.4894T>A (p.Leu1632Ile)
c.9409T>A (p.Leu3137Ile)
5g.13753299C>ACA359191124DNAH5c.10806G>T (p.Leu3602Phe)
c.10761G>T (p.Leu3587Phe)
c.10914G>T (p.Leu3638Phe)
c.9819G>T (p.Leu3273Phe)
c.6003G>T (p.Leu2001Phe)
c.5556G>T (p.Leu1852Phe)
c.4893G>T (p.Leu1631Phe)
c.9408G>T (p.Leu3136Phe)
5g.13753299C=CA1528423457DNAH5c.10806G= (p.Leu3602=)
c.10761G= (p.Leu3587=)
c.10914G= (p.Leu3638=)
c.9819G= (p.Leu3273=)
c.6003G= (p.Leu2001=)
c.5556G= (p.Leu1852=)
c.4893G= (p.Leu1631=)
c.9408G= (p.Leu3136=)
5g.13753299C>GCA359191126DNAH5c.10806G>C (p.Leu3602Phe)
c.10761G>C (p.Leu3587Phe)
c.10914G>C (p.Leu3638Phe)
c.9819G>C (p.Leu3273Phe)
c.6003G>C (p.Leu2001Phe)
c.5556G>C (p.Leu1852Phe)
c.4893G>C (p.Leu1631Phe)
c.9408G>C (p.Leu3136Phe)
5g.13753299C>TCA3202135DNAH5c.10806G>A (p.Leu3602=)
c.10761G>A (p.Leu3587=)
c.10914G>A (p.Leu3638=)
c.9819G>A (p.Leu3273=)
c.6003G>A (p.Leu2001=)
c.5556G>A (p.Leu1852=)
c.4893G>A (p.Leu1631=)
c.9408G>A (p.Leu3136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753300A>CCA359191135DNAH5c.10805T>G (p.Leu3602Trp)
c.10760T>G (p.Leu3587Trp)
c.10913T>G (p.Leu3638Trp)
c.9818T>G (p.Leu3273Trp)
c.6002T>G (p.Leu2001Trp)
c.5555T>G (p.Leu1852Trp)
c.4892T>G (p.Leu1631Trp)
c.9407T>G (p.Leu3136Trp)
5g.13753300A>GCA359191133DNAH5c.10805T>C (p.Leu3602Ser)
c.10760T>C (p.Leu3587Ser)
c.10913T>C (p.Leu3638Ser)
c.9818T>C (p.Leu3273Ser)
c.6002T>C (p.Leu2001Ser)
c.5555T>C (p.Leu1852Ser)
c.4892T>C (p.Leu1631Ser)
c.9407T>C (p.Leu3136Ser)
5g.13753300A>TCA359191132DNAH5c.10805T>A (p.Leu3602Ter)
c.10760T>A (p.Leu3587Ter)
c.10913T>A (p.Leu3638Ter)
c.9818T>A (p.Leu3273Ter)
c.6002T>A (p.Leu2001Ter)
c.5555T>A (p.Leu1852Ter)
c.4892T>A (p.Leu1631Ter)
c.9407T>A (p.Leu3136Ter)
5g.13753301A>CCA359191141DNAH5c.10804T>G (p.Leu3602Val)
c.10759T>G (p.Leu3587Val)
c.10912T>G (p.Leu3638Val)
c.9817T>G (p.Leu3273Val)
c.6001T>G (p.Leu2001Val)
c.5554T>G (p.Leu1852Val)
c.4891T>G (p.Leu1631Val)
c.9406T>G (p.Leu3136Val)
5g.13753301A>GCA443535479DNAH5c.10804T>C (p.Leu3602=)
c.10759T>C (p.Leu3587=)
c.10912T>C (p.Leu3638=)
c.9817T>C (p.Leu3273=)
c.6001T>C (p.Leu2001=)
c.5554T>C (p.Leu1852=)
c.4891T>C (p.Leu1631=)
c.9406T>C (p.Leu3136=)
5g.13753301A>TCA359191144DNAH5c.10804T>A (p.Leu3602Met)
c.10759T>A (p.Leu3587Met)
c.10912T>A (p.Leu3638Met)
c.9817T>A (p.Leu3273Met)
c.6001T>A (p.Leu2001Met)
c.5554T>A (p.Leu1852Met)
c.4891T>A (p.Leu1631Met)
c.9406T>A (p.Leu3136Met)
5g.13753302A>CCA443535483DNAH5c.10803T>G (p.Pro3601=)
c.10758T>G (p.Pro3586=)
c.10911T>G (p.Pro3637=)
c.9816T>G (p.Pro3272=)
c.6000T>G (p.Pro2000=)
c.5553T>G (p.Pro1851=)
c.4890T>G (p.Pro1630=)
c.9405T>G (p.Pro3135=)
5g.13753302A>GCA443535484DNAH5c.10803T>C (p.Pro3601=)
c.10758T>C (p.Pro3586=)
c.10911T>C (p.Pro3637=)
c.9816T>C (p.Pro3272=)
c.6000T>C (p.Pro2000=)
c.5553T>C (p.Pro1851=)
c.4890T>C (p.Pro1630=)
c.9405T>C (p.Pro3135=)
5g.13753302A>TCA443535485DNAH5c.10803T>A (p.Pro3601=)
c.10758T>A (p.Pro3586=)
c.10911T>A (p.Pro3637=)
c.9816T>A (p.Pro3272=)
c.6000T>A (p.Pro2000=)
c.5553T>A (p.Pro1851=)
c.4890T>A (p.Pro1630=)
c.9405T>A (p.Pro3135=)
 COSMIC
5g.13753303G>ACA359191147DNAH5c.10802C>T (p.Pro3601Leu)
c.10757C>T (p.Pro3586Leu)
c.10910C>T (p.Pro3637Leu)
c.9815C>T (p.Pro3272Leu)
c.5999C>T (p.Pro2000Leu)
c.5552C>T (p.Pro1851Leu)
c.4889C>T (p.Pro1630Leu)
c.9404C>T (p.Pro3135Leu)
 COSMIC
5g.13753303G>CCA359191150DNAH5c.10802C>G (p.Pro3601Arg)
c.10757C>G (p.Pro3586Arg)
c.10910C>G (p.Pro3637Arg)
c.9815C>G (p.Pro3272Arg)
c.5999C>G (p.Pro2000Arg)
c.5552C>G (p.Pro1851Arg)
c.4889C>G (p.Pro1630Arg)
c.9404C>G (p.Pro3135Arg)
 gnomAD v4
5g.13753303G>TCA359191153DNAH5c.10802C>A (p.Pro3601His)
c.10757C>A (p.Pro3586His)
c.10910C>A (p.Pro3637His)
c.9815C>A (p.Pro3272His)
c.5999C>A (p.Pro2000His)
c.5552C>A (p.Pro1851His)
c.4889C>A (p.Pro1630His)
c.9404C>A (p.Pro3135His)
5g.13753304G>ACA359191157DNAH5c.10801C>T (p.Pro3601Ser)
c.10756C>T (p.Pro3586Ser)
c.10909C>T (p.Pro3637Ser)
c.9814C>T (p.Pro3272Ser)
c.5998C>T (p.Pro2000Ser)
c.5551C>T (p.Pro1851Ser)
c.4888C>T (p.Pro1630Ser)
c.9403C>T (p.Pro3135Ser)
 dbSNP
5g.13753304G>CCA359191159DNAH5c.10801C>G (p.Pro3601Ala)
c.10756C>G (p.Pro3586Ala)
c.10909C>G (p.Pro3637Ala)
c.9814C>G (p.Pro3272Ala)
c.5998C>G (p.Pro2000Ala)
c.5551C>G (p.Pro1851Ala)
c.4888C>G (p.Pro1630Ala)
c.9403C>G (p.Pro3135Ala)
5g.13753304G=CA1528423458DNAH5c.10801C= (p.Pro3601=)
c.10756C= (p.Pro3586=)
c.10909C= (p.Pro3637=)
c.9814C= (p.Pro3272=)
c.5998C= (p.Pro2000=)
c.5551C= (p.Pro1851=)
c.4888C= (p.Pro1630=)
c.9403C= (p.Pro3135=)
5g.13753304G>TCA359191160DNAH5c.10801C>A (p.Pro3601Thr)
c.10756C>A (p.Pro3586Thr)
c.10909C>A (p.Pro3637Thr)
c.9814C>A (p.Pro3272Thr)
c.5998C>A (p.Pro2000Thr)
c.5551C>A (p.Pro1851Thr)
c.4888C>A (p.Pro1630Thr)
c.9403C>A (p.Pro3135Thr)
5g.13753305G>ACA3202136DNAH5c.10800C>T (p.Tyr3600=)
c.10755C>T (p.Tyr3585=)
c.10908C>T (p.Tyr3636=)
c.9813C>T (p.Tyr3271=)
c.5997C>T (p.Tyr1999=)
c.5550C>T (p.Tyr1850=)
c.4887C>T (p.Tyr1629=)
c.9402C>T (p.Tyr3134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753305G>CCA359191163DNAH5c.10800C>G (p.Tyr3600Ter)
c.10755C>G (p.Tyr3585Ter)
c.10908C>G (p.Tyr3636Ter)
c.9813C>G (p.Tyr3271Ter)
c.5997C>G (p.Tyr1999Ter)
c.5550C>G (p.Tyr1850Ter)
c.4887C>G (p.Tyr1629Ter)
c.9402C>G (p.Tyr3134Ter)
5g.13753305G=CA1528423459DNAH5c.10800C= (p.Tyr3600=)
c.10755C= (p.Tyr3585=)
c.10908C= (p.Tyr3636=)
c.9813C= (p.Tyr3271=)
c.5997C= (p.Tyr1999=)
c.5550C= (p.Tyr1850=)
c.4887C= (p.Tyr1629=)
c.9402C= (p.Tyr3134=)
5g.13753305G>TCA359191164DNAH5c.10800C>A (p.Tyr3600Ter)
c.10755C>A (p.Tyr3585Ter)
c.10908C>A (p.Tyr3636Ter)
c.9813C>A (p.Tyr3271Ter)
c.5997C>A (p.Tyr1999Ter)
c.5550C>A (p.Tyr1850Ter)
c.4887C>A (p.Tyr1629Ter)
c.9402C>A (p.Tyr3134Ter)
 dbSNP
5g.13753306T>ACA359191169DNAH5c.10799A>T (p.Tyr3600Phe)
c.10754A>T (p.Tyr3585Phe)
c.10907A>T (p.Tyr3636Phe)
c.9812A>T (p.Tyr3271Phe)
c.5996A>T (p.Tyr1999Phe)
c.5549A>T (p.Tyr1850Phe)
c.4886A>T (p.Tyr1629Phe)
c.9401A>T (p.Tyr3134Phe)
5g.13753306T>CCA359191168DNAH5c.10799A>G (p.Tyr3600Cys)
c.10754A>G (p.Tyr3585Cys)
c.10907A>G (p.Tyr3636Cys)
c.9812A>G (p.Tyr3271Cys)
c.5996A>G (p.Tyr1999Cys)
c.5549A>G (p.Tyr1850Cys)
c.4886A>G (p.Tyr1629Cys)
c.9401A>G (p.Tyr3134Cys)
 gnomAD v4
5g.13753306T>GCA3202137DNAH5c.10799A>C (p.Tyr3600Ser)
c.10754A>C (p.Tyr3585Ser)
c.10907A>C (p.Tyr3636Ser)
c.9812A>C (p.Tyr3271Ser)
c.5996A>C (p.Tyr1999Ser)
c.5549A>C (p.Tyr1850Ser)
c.4886A>C (p.Tyr1629Ser)
c.9401A>C (p.Tyr3134Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753306T=CA1528423460DNAH5c.10799A= (p.Tyr3600=)
c.10754A= (p.Tyr3585=)
c.10907A= (p.Tyr3636=)
c.9812A= (p.Tyr3271=)
c.5996A= (p.Tyr1999=)
c.5549A= (p.Tyr1850=)
c.4886A= (p.Tyr1629=)
c.9401A= (p.Tyr3134=)
5g.13753307A=CA1528423461DNAH5c.10798T= (p.Tyr3600=)
c.10753T= (p.Tyr3585=)
c.10906T= (p.Tyr3636=)
c.9811T= (p.Tyr3271=)
c.5995T= (p.Tyr1999=)
c.5548T= (p.Tyr1850=)
c.4885T= (p.Tyr1629=)
c.9400T= (p.Tyr3134=)
5g.13753307A>CCA359191171DNAH5c.10798T>G (p.Tyr3600Asp)
c.10753T>G (p.Tyr3585Asp)
c.10906T>G (p.Tyr3636Asp)
c.9811T>G (p.Tyr3271Asp)
c.5995T>G (p.Tyr1999Asp)
c.5548T>G (p.Tyr1850Asp)
c.4885T>G (p.Tyr1629Asp)
c.9400T>G (p.Tyr3134Asp)
5g.13753307A>GCA113918913DNAH5c.10798T>C (p.Tyr3600His)
c.10753T>C (p.Tyr3585His)
c.10906T>C (p.Tyr3636His)
c.9811T>C (p.Tyr3271His)
c.5995T>C (p.Tyr1999His)
c.5548T>C (p.Tyr1850His)
c.4885T>C (p.Tyr1629His)
c.9400T>C (p.Tyr3134His)
 dbSNP gnomAD v3 gnomAD v4
5g.13753307A>TCA359191175DNAH5c.10798T>A (p.Tyr3600Asn)
c.10753T>A (p.Tyr3585Asn)
c.10906T>A (p.Tyr3636Asn)
c.9811T>A (p.Tyr3271Asn)
c.5995T>A (p.Tyr1999Asn)
c.5548T>A (p.Tyr1850Asn)
c.4885T>A (p.Tyr1629Asn)
c.9400T>A (p.Tyr3134Asn)
5g.13753308A>CCA443535493DNAH5c.10797T>G (p.Arg3599=)
c.10752T>G (p.Arg3584=)
c.10905T>G (p.Arg3635=)
c.9810T>G (p.Arg3270=)
c.5994T>G (p.Arg1998=)
c.5547T>G (p.Arg1849=)
c.4884T>G (p.Arg1628=)
c.9399T>G (p.Arg3133=)
5g.13753308A>GCA443535494DNAH5c.10797T>C (p.Arg3599=)
c.10752T>C (p.Arg3584=)
c.10905T>C (p.Arg3635=)
c.9810T>C (p.Arg3270=)
c.5994T>C (p.Arg1998=)
c.5547T>C (p.Arg1849=)
c.4884T>C (p.Arg1628=)
c.9399T>C (p.Arg3133=)
5g.13753308A>TCA443535495DNAH5c.10797T>A (p.Arg3599=)
c.10752T>A (p.Arg3584=)
c.10905T>A (p.Arg3635=)
c.9810T>A (p.Arg3270=)
c.5994T>A (p.Arg1998=)
c.5547T>A (p.Arg1849=)
c.4884T>A (p.Arg1628=)
c.9399T>A (p.Arg3133=)
5g.13753309C>ACA359191179DNAH5c.10796G>T (p.Arg3599Leu)
c.10751G>T (p.Arg3584Leu)
c.10904G>T (p.Arg3635Leu)
c.9809G>T (p.Arg3270Leu)
c.5993G>T (p.Arg1998Leu)
c.5546G>T (p.Arg1849Leu)
c.4883G>T (p.Arg1628Leu)
c.9398G>T (p.Arg3133Leu)
5g.13753309C=CA1528423462DNAH5c.10796G= (p.Arg3599=)
c.10751G= (p.Arg3584=)
c.10904G= (p.Arg3635=)
c.9809G= (p.Arg3270=)
c.5993G= (p.Arg1998=)
c.5546G= (p.Arg1849=)
c.4883G= (p.Arg1628=)
c.9398G= (p.Arg3133=)
5g.13753309C>GCA359191181DNAH5c.10796G>C (p.Arg3599Pro)
c.10751G>C (p.Arg3584Pro)
c.10904G>C (p.Arg3635Pro)
c.9809G>C (p.Arg3270Pro)
c.5993G>C (p.Arg1998Pro)
c.5546G>C (p.Arg1849Pro)
c.4883G>C (p.Arg1628Pro)
c.9398G>C (p.Arg3133Pro)
 gnomAD v4 COSMIC
5g.13753309C>TCA3202138DNAH5c.10796G>A (p.Arg3599His)
c.10751G>A (p.Arg3584His)
c.10904G>A (p.Arg3635His)
c.9809G>A (p.Arg3270His)
c.5993G>A (p.Arg1998His)
c.5546G>A (p.Arg1849His)
c.4883G>A (p.Arg1628His)
c.9398G>A (p.Arg3133His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13753310G>ACA113918917DNAH5c.10795C>T (p.Arg3599Cys)
c.10750C>T (p.Arg3584Cys)
c.10903C>T (p.Arg3635Cys)
c.9808C>T (p.Arg3270Cys)
c.5992C>T (p.Arg1998Cys)
c.5545C>T (p.Arg1849Cys)
c.4882C>T (p.Arg1628Cys)
c.9397C>T (p.Arg3133Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13753310G>CCA359191185DNAH5c.10795C>G (p.Arg3599Gly)
c.10750C>G (p.Arg3584Gly)
c.10903C>G (p.Arg3635Gly)
c.9808C>G (p.Arg3270Gly)
c.5992C>G (p.Arg1998Gly)
c.5545C>G (p.Arg1849Gly)
c.4882C>G (p.Arg1628Gly)
c.9397C>G (p.Arg3133Gly)
5g.13753310G=CA1528423463DNAH5c.10795C= (p.Arg3599=)
c.10750C= (p.Arg3584=)
c.10903C= (p.Arg3635=)
c.9808C= (p.Arg3270=)
c.5992C= (p.Arg1998=)
c.5545C= (p.Arg1849=)
c.4882C= (p.Arg1628=)
c.9397C= (p.Arg3133=)
5g.13753310G>TCA359191186DNAH5c.10795C>A (p.Arg3599Ser)
c.10750C>A (p.Arg3584Ser)
c.10903C>A (p.Arg3635Ser)
c.9808C>A (p.Arg3270Ser)
c.5992C>A (p.Arg1998Ser)
c.5545C>A (p.Arg1849Ser)
c.4882C>A (p.Arg1628Ser)
c.9397C>A (p.Arg3133Ser)
5g.13753311A>CCA443535500DNAH5c.10794T>G (p.Ser3598=)
c.10749T>G (p.Ser3583=)
c.10902T>G (p.Ser3634=)
c.9807T>G (p.Ser3269=)
c.5991T>G (p.Ser1997=)
c.5544T>G (p.Ser1848=)
c.4881T>G (p.Ser1627=)
c.9396T>G (p.Ser3132=)
5g.13753311A>GCA443535501DNAH5c.10794T>C (p.Ser3598=)
c.10749T>C (p.Ser3583=)
c.10902T>C (p.Ser3634=)
c.9807T>C (p.Ser3269=)
c.5991T>C (p.Ser1997=)
c.5544T>C (p.Ser1848=)
c.4881T>C (p.Ser1627=)
c.9396T>C (p.Ser3132=)
5g.13753311A>TCA443535502DNAH5c.10794T>A (p.Ser3598=)
c.10749T>A (p.Ser3583=)
c.10902T>A (p.Ser3634=)
c.9807T>A (p.Ser3269=)
c.5991T>A (p.Ser1997=)
c.5544T>A (p.Ser1848=)
c.4881T>A (p.Ser1627=)
c.9396T>A (p.Ser3132=)
5g.13753312G>ACA359191188DNAH5c.10793C>T (p.Ser3598Phe)
c.10748C>T (p.Ser3583Phe)
c.10901C>T (p.Ser3634Phe)
c.9806C>T (p.Ser3269Phe)
c.5990C>T (p.Ser1997Phe)
c.5543C>T (p.Ser1848Phe)
c.4880C>T (p.Ser1627Phe)
c.9395C>T (p.Ser3132Phe)
5g.13753312G>CCA359191190DNAH5c.10793C>G (p.Ser3598Cys)
c.10748C>G (p.Ser3583Cys)
c.10901C>G (p.Ser3634Cys)
c.9806C>G (p.Ser3269Cys)
c.5990C>G (p.Ser1997Cys)
c.5543C>G (p.Ser1848Cys)
c.4880C>G (p.Ser1627Cys)
c.9395C>G (p.Ser3132Cys)
5g.13753312G>TCA359191192DNAH5c.10793C>A (p.Ser3598Tyr)
c.10748C>A (p.Ser3583Tyr)
c.10901C>A (p.Ser3634Tyr)
c.9806C>A (p.Ser3269Tyr)
c.5990C>A (p.Ser1997Tyr)
c.5543C>A (p.Ser1848Tyr)
c.4880C>A (p.Ser1627Tyr)
c.9395C>A (p.Ser3132Tyr)
5g.13753313_13753315delCA2673270449DNAH5c.10791_10793del (p.Ser3598del)
c.10746_10748del (p.Ser3583del)
c.10899_10901del (p.Ser3634del)
c.9804_9806del (p.Ser3269del)
c.5988_5990del (p.Ser1997del)
c.5541_5543del (p.Ser1848del)
c.4878_4880del (p.Ser1627del)
c.9393_9395del (p.Ser3132del)
 gnomAD v4
5g.13753313A>CCA359191198DNAH5c.10792T>G (p.Ser3598Ala)
c.10747T>G (p.Ser3583Ala)
c.10900T>G (p.Ser3634Ala)
c.9805T>G (p.Ser3269Ala)
c.5989T>G (p.Ser1997Ala)
c.5542T>G (p.Ser1848Ala)
c.4879T>G (p.Ser1627Ala)
c.9394T>G (p.Ser3132Ala)
 dbSNP
5g.13753313A>GCA359191196DNAH5c.10792T>C (p.Ser3598Pro)
c.10747T>C (p.Ser3583Pro)
c.10900T>C (p.Ser3634Pro)
c.9805T>C (p.Ser3269Pro)
c.5989T>C (p.Ser1997Pro)
c.5542T>C (p.Ser1848Pro)
c.4879T>C (p.Ser1627Pro)
c.9394T>C (p.Ser3132Pro)
5g.13753313A>TCA359191197DNAH5c.10792T>A (p.Ser3598Thr)
c.10747T>A (p.Ser3583Thr)
c.10900T>A (p.Ser3634Thr)
c.9805T>A (p.Ser3269Thr)
c.5989T>A (p.Ser1997Thr)
c.5542T>A (p.Ser1848Thr)
c.4879T>A (p.Ser1627Thr)
c.9394T>A (p.Ser3132Thr)
5g.13753314T>ACA443535504DNAH5c.10791A>T (p.Ala3597=)
c.10746A>T (p.Ala3582=)
c.10899A>T (p.Ala3633=)
c.9804A>T (p.Ala3268=)
c.5988A>T (p.Ala1996=)
c.5541A>T (p.Ala1847=)
c.4878A>T (p.Ala1626=)
c.9393A>T (p.Ala3131=)
5g.13753314T>CCA443535505DNAH5c.10791A>G (p.Ala3597=)
c.10746A>G (p.Ala3582=)
c.10899A>G (p.Ala3633=)
c.9804A>G (p.Ala3268=)
c.5988A>G (p.Ala1996=)
c.5541A>G (p.Ala1847=)
c.4878A>G (p.Ala1626=)
c.9393A>G (p.Ala3131=)
5g.13753314T>GCA443535506DNAH5c.10791A>C (p.Ala3597=)
c.10746A>C (p.Ala3582=)
c.10899A>C (p.Ala3633=)
c.9804A>C (p.Ala3268=)
c.5988A>C (p.Ala1996=)
c.5541A>C (p.Ala1847=)
c.4878A>C (p.Ala1626=)
c.9393A>C (p.Ala3131=)
5g.13753315G>ACA359191202DNAH5c.10790C>T (p.Ala3597Val)
c.10745C>T (p.Ala3582Val)
c.10898C>T (p.Ala3633Val)
c.9803C>T (p.Ala3268Val)
c.5987C>T (p.Ala1996Val)
c.5540C>T (p.Ala1847Val)
c.4877C>T (p.Ala1626Val)
c.9392C>T (p.Ala3131Val)
 dbSNP
5g.13753315G>CCA359191203DNAH5c.10790C>G (p.Ala3597Gly)
c.10745C>G (p.Ala3582Gly)
c.10898C>G (p.Ala3633Gly)
c.9803C>G (p.Ala3268Gly)
c.5987C>G (p.Ala1996Gly)
c.5540C>G (p.Ala1847Gly)
c.4877C>G (p.Ala1626Gly)
c.9392C>G (p.Ala3131Gly)
5g.13753315G=CA1528423464DNAH5c.10790C= (p.Ala3597=)
c.10745C= (p.Ala3582=)
c.10898C= (p.Ala3633=)
c.9803C= (p.Ala3268=)
c.5987C= (p.Ala1996=)
c.5540C= (p.Ala1847=)
c.4877C= (p.Ala1626=)
c.9392C= (p.Ala3131=)
5g.13753315G>TCA359191206DNAH5c.10790C>A (p.Ala3597Glu)
c.10745C>A (p.Ala3582Glu)
c.10898C>A (p.Ala3633Glu)
c.9803C>A (p.Ala3268Glu)
c.5987C>A (p.Ala1996Glu)
c.5540C>A (p.Ala1847Glu)
c.4877C>A (p.Ala1626Glu)
c.9392C>A (p.Ala3131Glu)
5g.13753316C>ACA3202139DNAH5c.10789G>T (p.Ala3597Ser)
c.10744G>T (p.Ala3582Ser)
c.10897G>T (p.Ala3633Ser)
c.9802G>T (p.Ala3268Ser)
c.5986G>T (p.Ala1996Ser)
c.5539G>T (p.Ala1847Ser)
c.4876G>T (p.Ala1626Ser)
c.9391G>T (p.Ala3131Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753316C=CA1528423465DNAH5c.10789G= (p.Ala3597=)
c.10744G= (p.Ala3582=)
c.10897G= (p.Ala3633=)
c.9802G= (p.Ala3268=)
c.5986G= (p.Ala1996=)
c.5539G= (p.Ala1847=)
c.4876G= (p.Ala1626=)
c.9391G= (p.Ala3131=)
5g.13753316C>GCA359191214DNAH5c.10789G>C (p.Ala3597Pro)
c.10744G>C (p.Ala3582Pro)
c.10897G>C (p.Ala3633Pro)
c.9802G>C (p.Ala3268Pro)
c.5986G>C (p.Ala1996Pro)
c.5539G>C (p.Ala1847Pro)
c.4876G>C (p.Ala1626Pro)
c.9391G>C (p.Ala3131Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13753316C>TCA359191216DNAH5c.10789G>A (p.Ala3597Thr)
c.10744G>A (p.Ala3582Thr)
c.10897G>A (p.Ala3633Thr)
c.9802G>A (p.Ala3268Thr)
c.5986G>A (p.Ala1996Thr)
c.5539G>A (p.Ala1847Thr)
c.4876G>A (p.Ala1626Thr)
c.9391G>A (p.Ala3131Thr)
 gnomAD v4
5g.13753317delCA2673270450DNAH5c.10789del (p.Ala3597HisfsTer7)
c.10744del (p.Ala3582HisfsTer7)
c.10897del (p.Ala3633HisfsTer7)
c.9802del (p.Ala3268HisfsTer7)
c.5986del (p.Ala1996HisfsTer7)
c.5539del (p.Ala1847HisfsTer7)
c.4876del (p.Ala1626HisfsTer7)
c.9391del (p.Ala3131HisfsTer7)
 gnomAD v4
5g.13753317C>ACA359191219DNAH5c.10788G>T (p.Lys3596Asn)
c.10743G>T (p.Lys3581Asn)
c.10896G>T (p.Lys3632Asn)
c.9801G>T (p.Lys3267Asn)
c.5985G>T (p.Lys1995Asn)
c.5538G>T (p.Lys1846Asn)
c.4875G>T (p.Lys1625Asn)
c.9390G>T (p.Lys3130Asn)
5g.13753317C>GCA359191221DNAH5c.10788G>C (p.Lys3596Asn)
c.10743G>C (p.Lys3581Asn)
c.10896G>C (p.Lys3632Asn)
c.9801G>C (p.Lys3267Asn)
c.5985G>C (p.Lys1995Asn)
c.5538G>C (p.Lys1846Asn)
c.4875G>C (p.Lys1625Asn)
c.9390G>C (p.Lys3130Asn)
5g.13753317C>TCA443535510DNAH5c.10788G>A (p.Lys3596=)
c.10743G>A (p.Lys3581=)
c.10896G>A (p.Lys3632=)
c.9801G>A (p.Lys3267=)
c.5985G>A (p.Lys1995=)
c.5538G>A (p.Lys1846=)
c.4875G>A (p.Lys1625=)
c.9390G>A (p.Lys3130=)
5g.13753318T>ACA3202140DNAH5c.10787A>T (p.Lys3596Met)
c.10742A>T (p.Lys3581Met)
c.10895A>T (p.Lys3632Met)
c.9800A>T (p.Lys3267Met)
c.5984A>T (p.Lys1995Met)
c.5537A>T (p.Lys1846Met)
c.4874A>T (p.Lys1625Met)
c.9389A>T (p.Lys3130Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753318T>CCA359191225DNAH5c.10787A>G (p.Lys3596Arg)
c.10742A>G (p.Lys3581Arg)
c.10895A>G (p.Lys3632Arg)
c.9800A>G (p.Lys3267Arg)
c.5984A>G (p.Lys1995Arg)
c.5537A>G (p.Lys1846Arg)
c.4874A>G (p.Lys1625Arg)
c.9389A>G (p.Lys3130Arg)
5g.13753318T>GCA359191227DNAH5c.10787A>C (p.Lys3596Thr)
c.10742A>C (p.Lys3581Thr)
c.10895A>C (p.Lys3632Thr)
c.9800A>C (p.Lys3267Thr)
c.5984A>C (p.Lys1995Thr)
c.5537A>C (p.Lys1846Thr)
c.4874A>C (p.Lys1625Thr)
c.9389A>C (p.Lys3130Thr)
 gnomAD v4
5g.13753318T=CA1528423466DNAH5c.10787A= (p.Lys3596=)
c.10742A= (p.Lys3581=)
c.10895A= (p.Lys3632=)
c.9800A= (p.Lys3267=)
c.5984A= (p.Lys1995=)
c.5537A= (p.Lys1846=)
c.4874A= (p.Lys1625=)
c.9389A= (p.Lys3130=)
5g.13753319T>ACA359191235DNAH5c.10786A>T (p.Lys3596Ter)
c.10741A>T (p.Lys3581Ter)
c.10894A>T (p.Lys3632Ter)
c.9799A>T (p.Lys3267Ter)
c.5983A>T (p.Lys1995Ter)
c.5536A>T (p.Lys1846Ter)
c.4873A>T (p.Lys1625Ter)
c.9388A>T (p.Lys3130Ter)
5g.13753319T>CCA359191232DNAH5c.10786A>G (p.Lys3596Glu)
c.10741A>G (p.Lys3581Glu)
c.10894A>G (p.Lys3632Glu)
c.9799A>G (p.Lys3267Glu)
c.5983A>G (p.Lys1995Glu)
c.5536A>G (p.Lys1846Glu)
c.4873A>G (p.Lys1625Glu)
c.9388A>G (p.Lys3130Glu)
5g.13753319T>GCA359191229DNAH5c.10786A>C (p.Lys3596Gln)
c.10741A>C (p.Lys3581Gln)
c.10894A>C (p.Lys3632Gln)
c.9799A>C (p.Lys3267Gln)
c.5983A>C (p.Lys1995Gln)
c.5536A>C (p.Lys1846Gln)
c.4873A>C (p.Lys1625Gln)
c.9388A>C (p.Lys3130Gln)
5g.13753320C>ACA443535512DNAH5c.10785G>T (p.Thr3595=)
c.10740G>T (p.Thr3580=)
c.10893G>T (p.Thr3631=)
c.9798G>T (p.Thr3266=)
c.5982G>T (p.Thr1994=)
c.5535G>T (p.Thr1845=)
c.4872G>T (p.Thr1624=)
c.9387G>T (p.Thr3129=)
 COSMIC
5g.13753320C=CA1528423467DNAH5c.10785G= (p.Thr3595=)
c.10740G= (p.Thr3580=)
c.10893G= (p.Thr3631=)
c.9798G= (p.Thr3266=)
c.5982G= (p.Thr1994=)
c.5535G= (p.Thr1845=)
c.4872G= (p.Thr1624=)
c.9387G= (p.Thr3129=)
5g.13753320C>GCA443535511DNAH5c.10785G>C (p.Thr3595=)
c.10740G>C (p.Thr3580=)
c.10893G>C (p.Thr3631=)
c.9798G>C (p.Thr3266=)
c.5982G>C (p.Thr1994=)
c.5535G>C (p.Thr1845=)
c.4872G>C (p.Thr1624=)
c.9387G>C (p.Thr3129=)
 ClinVar dbSNP gnomAD v4
5g.13753320C>TCA3202141DNAH5c.10785G>A (p.Thr3595=)
c.10740G>A (p.Thr3580=)
c.10893G>A (p.Thr3631=)
c.9798G>A (p.Thr3266=)
c.5982G>A (p.Thr1994=)
c.5535G>A (p.Thr1845=)
c.4872G>A (p.Thr1624=)
c.9387G>A (p.Thr3129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753321G>ACA10606127DNAH5c.10784C>T (p.Thr3595Met)
c.10739C>T (p.Thr3580Met)
c.10892C>T (p.Thr3631Met)
c.9797C>T (p.Thr3266Met)
c.5981C>T (p.Thr1994Met)
c.5534C>T (p.Thr1845Met)
c.4871C>T (p.Thr1624Met)
c.9386C>T (p.Thr3129Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13753321G>CCA359191241DNAH5c.10784C>G (p.Thr3595Arg)
c.10739C>G (p.Thr3580Arg)
c.10892C>G (p.Thr3631Arg)
c.9797C>G (p.Thr3266Arg)
c.5981C>G (p.Thr1994Arg)
c.5534C>G (p.Thr1845Arg)
c.4871C>G (p.Thr1624Arg)
c.9386C>G (p.Thr3129Arg)
 dbSNP
5g.13753321G=CA1528423468DNAH5c.10784C= (p.Thr3595=)
c.10739C= (p.Thr3580=)
c.10892C= (p.Thr3631=)
c.9797C= (p.Thr3266=)
c.5981C= (p.Thr1994=)
c.5534C= (p.Thr1845=)
c.4871C= (p.Thr1624=)
c.9386C= (p.Thr3129=)
5g.13753321G>TCA359191245DNAH5c.10784C>A (p.Thr3595Lys)
c.10739C>A (p.Thr3580Lys)
c.10892C>A (p.Thr3631Lys)
c.9797C>A (p.Thr3266Lys)
c.5981C>A (p.Thr1994Lys)
c.5534C>A (p.Thr1845Lys)
c.4871C>A (p.Thr1624Lys)
c.9386C>A (p.Thr3129Lys)
 ClinVar gnomAD v4
5g.13753322_13753323delCA2580072143DNAH5c.10783_10784del (p.Thr3595GlufsTer10)
c.10738_10739del (p.Thr3580GlufsTer10)
c.10891_10892del (p.Thr3631GlufsTer10)
c.9796_9797del (p.Thr3266GlufsTer10)
c.5980_5981del (p.Thr1994GlufsTer10)
c.5533_5534del (p.Thr1845GlufsTer10)
c.4870_4871del (p.Thr1624GlufsTer10)
c.9385_9386del (p.Thr3129GlufsTer10)
 ClinVar
5g.13753322T>ACA359191247DNAH5c.10783A>T (p.Thr3595Ser)
c.10738A>T (p.Thr3580Ser)
c.10891A>T (p.Thr3631Ser)
c.9796A>T (p.Thr3266Ser)
c.5980A>T (p.Thr1994Ser)
c.5533A>T (p.Thr1845Ser)
c.4870A>T (p.Thr1624Ser)
c.9385A>T (p.Thr3129Ser)
5g.13753322T>CCA359191250DNAH5c.10783A>G (p.Thr3595Ala)
c.10738A>G (p.Thr3580Ala)
c.10891A>G (p.Thr3631Ala)
c.9796A>G (p.Thr3266Ala)
c.5980A>G (p.Thr1994Ala)
c.5533A>G (p.Thr1845Ala)
c.4870A>G (p.Thr1624Ala)
c.9385A>G (p.Thr3129Ala)
5g.13753322T>GCA359191252DNAH5c.10783A>C (p.Thr3595Pro)
c.10738A>C (p.Thr3580Pro)
c.10891A>C (p.Thr3631Pro)
c.9796A>C (p.Thr3266Pro)
c.5980A>C (p.Thr1994Pro)
c.5533A>C (p.Thr1845Pro)
c.4870A>C (p.Thr1624Pro)
c.9385A>C (p.Thr3129Pro)
5g.13753323G>ACA443535514DNAH5c.10782C>T (p.Val3594=)
c.10737C>T (p.Val3579=)
c.10890C>T (p.Val3630=)
c.9795C>T (p.Val3265=)
c.5979C>T (p.Val1993=)
c.5532C>T (p.Val1844=)
c.4869C>T (p.Val1623=)
c.9384C>T (p.Val3128=)
 ClinVar dbSNP gnomAD v4
5g.13753323G>CCA443535516DNAH5c.10782C>G (p.Val3594=)
c.10737C>G (p.Val3579=)
c.10890C>G (p.Val3630=)
c.9795C>G (p.Val3265=)
c.5979C>G (p.Val1993=)
c.5532C>G (p.Val1844=)
c.4869C>G (p.Val1623=)
c.9384C>G (p.Val3128=)
5g.13753323G>TCA443535515DNAH5c.10782C>A (p.Val3594=)
c.10737C>A (p.Val3579=)
c.10890C>A (p.Val3630=)
c.9795C>A (p.Val3265=)
c.5979C>A (p.Val1993=)
c.5532C>A (p.Val1844=)
c.4869C>A (p.Val1623=)
c.9384C>A (p.Val3128=)
5g.13753324A=CA1528423469DNAH5c.10781T= (p.Val3594=)
c.10736T= (p.Val3579=)
c.10889T= (p.Val3630=)
c.9794T= (p.Val3265=)
c.5978T= (p.Val1993=)
c.5531T= (p.Val1844=)
c.4868T= (p.Val1623=)
c.9383T= (p.Val3128=)
5g.13753324A>CCA359191254DNAH5c.10781T>G (p.Val3594Gly)
c.10736T>G (p.Val3579Gly)
c.10889T>G (p.Val3630Gly)
c.9794T>G (p.Val3265Gly)
c.5978T>G (p.Val1993Gly)
c.5531T>G (p.Val1844Gly)
c.4868T>G (p.Val1623Gly)
c.9383T>G (p.Val3128Gly)
5g.13753324A>GCA359191257DNAH5c.10781T>C (p.Val3594Ala)
c.10736T>C (p.Val3579Ala)
c.10889T>C (p.Val3630Ala)
c.9794T>C (p.Val3265Ala)
c.5978T>C (p.Val1993Ala)
c.5531T>C (p.Val1844Ala)
c.4868T>C (p.Val1623Ala)
c.9383T>C (p.Val3128Ala)
5g.13753324A>TCA359191259DNAH5c.10781T>A (p.Val3594Asp)
c.10736T>A (p.Val3579Asp)
c.10889T>A (p.Val3630Asp)
c.9794T>A (p.Val3265Asp)
c.5978T>A (p.Val1993Asp)
c.5531T>A (p.Val1844Asp)
c.4868T>A (p.Val1623Asp)
c.9383T>A (p.Val3128Asp)
 dbSNP
5g.13753325C>ACA359191260DNAH5c.10780G>T (p.Val3594Phe)
c.10735G>T (p.Val3579Phe)
c.10888G>T (p.Val3630Phe)
c.9793G>T (p.Val3265Phe)
c.5977G>T (p.Val1993Phe)
c.5530G>T (p.Val1844Phe)
c.4867G>T (p.Val1623Phe)
c.9382G>T (p.Val3128Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.13753325C=CA1528423470DNAH5c.10780G= (p.Val3594=)
c.10735G= (p.Val3579=)
c.10888G= (p.Val3630=)
c.9793G= (p.Val3265=)
c.5977G= (p.Val1993=)
c.5530G= (p.Val1844=)
c.4867G= (p.Val1623=)
c.9382G= (p.Val3128=)
5g.13753325C>GCA359191262DNAH5c.10780G>C (p.Val3594Leu)
c.10735G>C (p.Val3579Leu)
c.10888G>C (p.Val3630Leu)
c.9793G>C (p.Val3265Leu)
c.5977G>C (p.Val1993Leu)
c.5530G>C (p.Val1844Leu)
c.4867G>C (p.Val1623Leu)
c.9382G>C (p.Val3128Leu)
5g.13753325C>TCA359191265DNAH5c.10780G>A (p.Val3594Ile)
c.10735G>A (p.Val3579Ile)
c.10888G>A (p.Val3630Ile)
c.9793G>A (p.Val3265Ile)
c.5977G>A (p.Val1993Ile)
c.5530G>A (p.Val1844Ile)
c.4867G>A (p.Val1623Ile)
c.9382G>A (p.Val3128Ile)
 gnomAD v4
5g.13753326A>CCA359191267DNAH5c.10779T>G (p.Ile3593Met)
c.10734T>G (p.Ile3578Met)
c.10887T>G (p.Ile3629Met)
c.9792T>G (p.Ile3264Met)
c.5976T>G (p.Ile1992Met)
c.5529T>G (p.Ile1843Met)
c.4866T>G (p.Ile1622Met)
c.9381T>G (p.Ile3127Met)
5g.13753326A>GCA443535517DNAH5c.10779T>C (p.Ile3593=)
c.10734T>C (p.Ile3578=)
c.10887T>C (p.Ile3629=)
c.9792T>C (p.Ile3264=)
c.5976T>C (p.Ile1992=)
c.5529T>C (p.Ile1843=)
c.4866T>C (p.Ile1622=)
c.9381T>C (p.Ile3127=)
 ClinVar dbSNP gnomAD v4
5g.13753326A>TCA443535518DNAH5c.10779T>A (p.Ile3593=)
c.10734T>A (p.Ile3578=)
c.10887T>A (p.Ile3629=)
c.9792T>A (p.Ile3264=)
c.5976T>A (p.Ile1992=)
c.5529T>A (p.Ile1843=)
c.4866T>A (p.Ile1622=)
c.9381T>A (p.Ile3127=)
5g.13753327A>CCA359191269DNAH5c.10778T>G (p.Ile3593Ser)
c.10733T>G (p.Ile3578Ser)
c.10886T>G (p.Ile3629Ser)
c.9791T>G (p.Ile3264Ser)
c.5975T>G (p.Ile1992Ser)
c.5528T>G (p.Ile1843Ser)
c.4865T>G (p.Ile1622Ser)
c.9380T>G (p.Ile3127Ser)
5g.13753327A>GCA359191272DNAH5c.10778T>C (p.Ile3593Thr)
c.10733T>C (p.Ile3578Thr)
c.10886T>C (p.Ile3629Thr)
c.9791T>C (p.Ile3264Thr)
c.5975T>C (p.Ile1992Thr)
c.5528T>C (p.Ile1843Thr)
c.4865T>C (p.Ile1622Thr)
c.9380T>C (p.Ile3127Thr)
5g.13753327A>TCA359191273DNAH5c.10778T>A (p.Ile3593Asn)
c.10733T>A (p.Ile3578Asn)
c.10886T>A (p.Ile3629Asn)
c.9791T>A (p.Ile3264Asn)
c.5975T>A (p.Ile1992Asn)
c.5528T>A (p.Ile1843Asn)
c.4865T>A (p.Ile1622Asn)
c.9380T>A (p.Ile3127Asn)
5g.13753328T>ACA359191275DNAH5c.10777A>T (p.Ile3593Phe)
c.10732A>T (p.Ile3578Phe)
c.10885A>T (p.Ile3629Phe)
c.9790A>T (p.Ile3264Phe)
c.5974A>T (p.Ile1992Phe)
c.5527A>T (p.Ile1843Phe)
c.4864A>T (p.Ile1622Phe)
c.9379A>T (p.Ile3127Phe)
5g.13753328T>CCA359191278DNAH5c.10777A>G (p.Ile3593Val)
c.10732A>G (p.Ile3578Val)
c.10885A>G (p.Ile3629Val)
c.9790A>G (p.Ile3264Val)
c.5974A>G (p.Ile1992Val)
c.5527A>G (p.Ile1843Val)
c.4864A>G (p.Ile1622Val)
c.9379A>G (p.Ile3127Val)
 dbSNP gnomAD v2
5g.13753328T>GCA359191276DNAH5c.10777A>C (p.Ile3593Leu)
c.10732A>C (p.Ile3578Leu)
c.10885A>C (p.Ile3629Leu)
c.9790A>C (p.Ile3264Leu)
c.5974A>C (p.Ile1992Leu)
c.5527A>C (p.Ile1843Leu)
c.4864A>C (p.Ile1622Leu)
c.9379A>C (p.Ile3127Leu)
5g.13753328T=CA1528423471DNAH5c.10777A= (p.Ile3593=)
c.10732A= (p.Ile3578=)
c.10885A= (p.Ile3629=)
c.9790A= (p.Ile3264=)
c.5974A= (p.Ile1992=)
c.5527A= (p.Ile1843=)
c.4864A= (p.Ile1622=)
c.9379A= (p.Ile3127=)
5g.13753329A>CCA359191282DNAH5c.10776T>G (p.Ile3592Met)
c.10731T>G (p.Ile3577Met)
c.10884T>G (p.Ile3628Met)
c.9789T>G (p.Ile3263Met)
c.5973T>G (p.Ile1991Met)
c.5526T>G (p.Ile1842Met)
c.4863T>G (p.Ile1621Met)
c.9378T>G (p.Ile3126Met)
5g.13753329A>GCA443535522DNAH5c.10776T>C (p.Ile3592=)
c.10731T>C (p.Ile3577=)
c.10884T>C (p.Ile3628=)
c.9789T>C (p.Ile3263=)
c.5973T>C (p.Ile1991=)
c.5526T>C (p.Ile1842=)
c.4863T>C (p.Ile1621=)
c.9378T>C (p.Ile3126=)
5g.13753329A>TCA443535523DNAH5c.10776T>A (p.Ile3592=)
c.10731T>A (p.Ile3577=)
c.10884T>A (p.Ile3628=)
c.9789T>A (p.Ile3263=)
c.5973T>A (p.Ile1991=)
c.5526T>A (p.Ile1842=)
c.4863T>A (p.Ile1621=)
c.9378T>A (p.Ile3126=)
5g.13753330A>CCA359191285DNAH5c.10775T>G (p.Ile3592Ser)
c.10730T>G (p.Ile3577Ser)
c.10883T>G (p.Ile3628Ser)
c.9788T>G (p.Ile3263Ser)
c.5972T>G (p.Ile1991Ser)
c.5525T>G (p.Ile1842Ser)
c.4862T>G (p.Ile1621Ser)
c.9377T>G (p.Ile3126Ser)
5g.13753330A>GCA359191288DNAH5c.10775T>C (p.Ile3592Thr)
c.10730T>C (p.Ile3577Thr)
c.10883T>C (p.Ile3628Thr)
c.9788T>C (p.Ile3263Thr)
c.5972T>C (p.Ile1991Thr)
c.5525T>C (p.Ile1842Thr)
c.4862T>C (p.Ile1621Thr)
c.9377T>C (p.Ile3126Thr)
 gnomAD v4
5g.13753330A>TCA359191291DNAH5c.10775T>A (p.Ile3592Asn)
c.10730T>A (p.Ile3577Asn)
c.10883T>A (p.Ile3628Asn)
c.9788T>A (p.Ile3263Asn)
c.5972T>A (p.Ile1991Asn)
c.5525T>A (p.Ile1842Asn)
c.4862T>A (p.Ile1621Asn)
c.9377T>A (p.Ile3126Asn)
5g.13753331T>ACA359191293DNAH5c.10774A>T (p.Ile3592Phe)
c.10729A>T (p.Ile3577Phe)
c.10882A>T (p.Ile3628Phe)
c.9787A>T (p.Ile3263Phe)
c.5971A>T (p.Ile1991Phe)
c.5524A>T (p.Ile1842Phe)
c.4861A>T (p.Ile1621Phe)
c.9376A>T (p.Ile3126Phe)
5g.13753331T>CCA359191296DNAH5c.10774A>G (p.Ile3592Val)
c.10729A>G (p.Ile3577Val)
c.10882A>G (p.Ile3628Val)
c.9787A>G (p.Ile3263Val)
c.5971A>G (p.Ile1991Val)
c.5524A>G (p.Ile1842Val)
c.4861A>G (p.Ile1621Val)
c.9376A>G (p.Ile3126Val)
 dbSNP
5g.13753331T>GCA3202142DNAH5c.10774A>C (p.Ile3592Leu)
c.10729A>C (p.Ile3577Leu)
c.10882A>C (p.Ile3628Leu)
c.9787A>C (p.Ile3263Leu)
c.5971A>C (p.Ile1991Leu)
c.5524A>C (p.Ile1842Leu)
c.4861A>C (p.Ile1621Leu)
c.9376A>C (p.Ile3126Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753331T=CA1528423472DNAH5c.10774A= (p.Ile3592=)
c.10729A= (p.Ile3577=)
c.10882A= (p.Ile3628=)
c.9787A= (p.Ile3263=)
c.5971A= (p.Ile1991=)
c.5524A= (p.Ile1842=)
c.4861A= (p.Ile1621=)
c.9376A= (p.Ile3126=)
5g.13753332T>ACA443535525DNAH5c.10773A>T (p.Gly3591=)
c.10728A>T (p.Gly3576=)
c.10881A>T (p.Gly3627=)
c.9786A>T (p.Gly3262=)
c.5970A>T (p.Gly1990=)
c.5523A>T (p.Gly1841=)
c.4860A>T (p.Gly1620=)
c.9375A>T (p.Gly3125=)
 dbSNP gnomAD v2 gnomAD v4
5g.13753332T>CCA443535526DNAH5c.10773A>G (p.Gly3591=)
c.10728A>G (p.Gly3576=)
c.10881A>G (p.Gly3627=)
c.9786A>G (p.Gly3262=)
c.5970A>G (p.Gly1990=)
c.5523A>G (p.Gly1841=)
c.4860A>G (p.Gly1620=)
c.9375A>G (p.Gly3125=)
 ClinVar dbSNP gnomAD v4
5g.13753332T>GCA443535527DNAH5c.10773A>C (p.Gly3591=)
c.10728A>C (p.Gly3576=)
c.10881A>C (p.Gly3627=)
c.9786A>C (p.Gly3262=)
c.5970A>C (p.Gly1990=)
c.5523A>C (p.Gly1841=)
c.4860A>C (p.Gly1620=)
c.9375A>C (p.Gly3125=)
5g.13753332T=CA1528423473DNAH5c.10773A= (p.Gly3591=)
c.10728A= (p.Gly3576=)
c.10881A= (p.Gly3627=)
c.9786A= (p.Gly3262=)
c.5970A= (p.Gly1990=)
c.5523A= (p.Gly1841=)
c.4860A= (p.Gly1620=)
c.9375A= (p.Gly3125=)
5g.13753333C>ACA359191304DNAH5c.10772G>T (p.Gly3591Val)
c.10727G>T (p.Gly3576Val)
c.10880G>T (p.Gly3627Val)
c.9785G>T (p.Gly3262Val)
c.5969G>T (p.Gly1990Val)
c.5522G>T (p.Gly1841Val)
c.4859G>T (p.Gly1620Val)
c.9374G>T (p.Gly3125Val)
 gnomAD v4
5g.13753333C>GCA359191306DNAH5c.10772G>C (p.Gly3591Ala)
c.10727G>C (p.Gly3576Ala)
c.10880G>C (p.Gly3627Ala)
c.9785G>C (p.Gly3262Ala)
c.5969G>C (p.Gly1990Ala)
c.5522G>C (p.Gly1841Ala)
c.4859G>C (p.Gly1620Ala)
c.9374G>C (p.Gly3125Ala)
5g.13753333C>TCA359191313DNAH5c.10772G>A (p.Gly3591Glu)
c.10727G>A (p.Gly3576Glu)
c.10880G>A (p.Gly3627Glu)
c.9785G>A (p.Gly3262Glu)
c.5969G>A (p.Gly1990Glu)
c.5522G>A (p.Gly1841Glu)
c.4859G>A (p.Gly1620Glu)
c.9374G>A (p.Gly3125Glu)
 COSMIC
5g.13753334C>ACA359191321DNAH5c.10771G>T (p.Gly3591Ter)
c.10726G>T (p.Gly3576Ter)
c.10879G>T (p.Gly3627Ter)
c.9784G>T (p.Gly3262Ter)
c.5968G>T (p.Gly1990Ter)
c.5521G>T (p.Gly1841Ter)
c.4858G>T (p.Gly1620Ter)
c.9373G>T (p.Gly3125Ter)
 ClinVar
5g.13753334C>GCA359191318DNAH5c.10771G>C (p.Gly3591Arg)
c.10726G>C (p.Gly3576Arg)
c.10879G>C (p.Gly3627Arg)
c.9784G>C (p.Gly3262Arg)
c.5968G>C (p.Gly1990Arg)
c.5521G>C (p.Gly1841Arg)
c.4858G>C (p.Gly1620Arg)
c.9373G>C (p.Gly3125Arg)
5g.13753334C>TCA359191316DNAH5c.10771G>A (p.Gly3591Arg)
c.10726G>A (p.Gly3576Arg)
c.10879G>A (p.Gly3627Arg)
c.9784G>A (p.Gly3262Arg)
c.5968G>A (p.Gly1990Arg)
c.5521G>A (p.Gly1841Arg)
c.4858G>A (p.Gly1620Arg)
c.9373G>A (p.Gly3125Arg)
 COSMIC
5g.13753335A=CA1528423474DNAH5c.10770T= (p.Asn3590=)
c.10725T= (p.Asn3575=)
c.10878T= (p.Asn3626=)
c.9783T= (p.Asn3261=)
c.5967T= (p.Asn1989=)
c.5520T= (p.Asn1840=)
c.4857T= (p.Asn1619=)
c.9372T= (p.Asn3124=)
5g.13753335A>CCA359191324DNAH5c.10770T>G (p.Asn3590Lys)
c.10725T>G (p.Asn3575Lys)
c.10878T>G (p.Asn3626Lys)
c.9783T>G (p.Asn3261Lys)
c.5967T>G (p.Asn1989Lys)
c.5520T>G (p.Asn1840Lys)
c.4857T>G (p.Asn1619Lys)
c.9372T>G (p.Asn3124Lys)
5g.13753335A>GCA3202143DNAH5c.10770T>C (p.Asn3590=)
c.10725T>C (p.Asn3575=)
c.10878T>C (p.Asn3626=)
c.9783T>C (p.Asn3261=)
c.5967T>C (p.Asn1989=)
c.5520T>C (p.Asn1840=)
c.4857T>C (p.Asn1619=)
c.9372T>C (p.Asn3124=)
 ClinVar dbSNP ExAC gnomAD v2
5g.13753335A>TCA359191328DNAH5c.10770T>A (p.Asn3590Lys)
c.10725T>A (p.Asn3575Lys)
c.10878T>A (p.Asn3626Lys)
c.9783T>A (p.Asn3261Lys)
c.5967T>A (p.Asn1989Lys)
c.5520T>A (p.Asn1840Lys)
c.4857T>A (p.Asn1619Lys)
c.9372T>A (p.Asn3124Lys)
5g.13753336T>ACA359191331DNAH5c.10769A>T (p.Asn3590Ile)
c.10724A>T (p.Asn3575Ile)
c.10877A>T (p.Asn3626Ile)
c.9782A>T (p.Asn3261Ile)
c.5966A>T (p.Asn1989Ile)
c.5519A>T (p.Asn1840Ile)
c.4856A>T (p.Asn1619Ile)
c.9371A>T (p.Asn3124Ile)
5g.13753336T>CCA3202144DNAH5c.10769A>G (p.Asn3590Ser)
c.10724A>G (p.Asn3575Ser)
c.10877A>G (p.Asn3626Ser)
c.9782A>G (p.Asn3261Ser)
c.5966A>G (p.Asn1989Ser)
c.5519A>G (p.Asn1840Ser)
c.4856A>G (p.Asn1619Ser)
c.9371A>G (p.Asn3124Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753336T>GCA359191334DNAH5c.10769A>C (p.Asn3590Thr)
c.10724A>C (p.Asn3575Thr)
c.10877A>C (p.Asn3626Thr)
c.9782A>C (p.Asn3261Thr)
c.5966A>C (p.Asn1989Thr)
c.5519A>C (p.Asn1840Thr)
c.4856A>C (p.Asn1619Thr)
c.9371A>C (p.Asn3124Thr)
5g.13753336T=CA1528423475DNAH5c.10769A= (p.Asn3590=)
c.10724A= (p.Asn3575=)
c.10877A= (p.Asn3626=)
c.9782A= (p.Asn3261=)
c.5966A= (p.Asn1989=)
c.5519A= (p.Asn1840=)
c.4856A= (p.Asn1619=)
c.9371A= (p.Asn3124=)
5g.13753337T>ACA359191337DNAH5c.10768A>T (p.Asn3590Tyr)
c.10723A>T (p.Asn3575Tyr)
c.10876A>T (p.Asn3626Tyr)
c.9781A>T (p.Asn3261Tyr)
c.5965A>T (p.Asn1989Tyr)
c.5518A>T (p.Asn1840Tyr)
c.4855A>T (p.Asn1619Tyr)
c.9370A>T (p.Asn3124Tyr)
5g.13753337T>CCA359191335DNAH5c.10768A>G (p.Asn3590Asp)
c.10723A>G (p.Asn3575Asp)
c.10876A>G (p.Asn3626Asp)
c.9781A>G (p.Asn3261Asp)
c.5965A>G (p.Asn1989Asp)
c.5518A>G (p.Asn1840Asp)
c.4855A>G (p.Asn1619Asp)
c.9370A>G (p.Asn3124Asp)
5g.13753337T>GCA359191336DNAH5c.10768A>C (p.Asn3590His)
c.10723A>C (p.Asn3575His)
c.10876A>C (p.Asn3626His)
c.9781A>C (p.Asn3261His)
c.5965A>C (p.Asn1989His)
c.5518A>C (p.Asn1840His)
c.4855A>C (p.Asn1619His)
c.9370A>C (p.Asn3124His)
5g.13753338T>ACA359191339DNAH5c.10767A>T (p.Gln3589His)
c.10722A>T (p.Gln3574His)
c.10875A>T (p.Gln3625His)
c.9780A>T (p.Gln3260His)
c.5964A>T (p.Gln1988His)
c.5517A>T (p.Gln1839His)
c.4854A>T (p.Gln1618His)
c.9369A>T (p.Gln3123His)
5g.13753338T>CCA443535529DNAH5c.10767A>G (p.Gln3589=)
c.10722A>G (p.Gln3574=)
c.10875A>G (p.Gln3625=)
c.9780A>G (p.Gln3260=)
c.5964A>G (p.Gln1988=)
c.5517A>G (p.Gln1839=)
c.4854A>G (p.Gln1618=)
c.9369A>G (p.Gln3123=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753338T>GCA359191341DNAH5c.10767A>C (p.Gln3589His)
c.10722A>C (p.Gln3574His)
c.10875A>C (p.Gln3625His)
c.9780A>C (p.Gln3260His)
c.5964A>C (p.Gln1988His)
c.5517A>C (p.Gln1839His)
c.4854A>C (p.Gln1618His)
c.9369A>C (p.Gln3123His)
5g.13753338T=CA1528423476DNAH5c.10767A= (p.Gln3589=)
c.10722A= (p.Gln3574=)
c.10875A= (p.Gln3625=)
c.9780A= (p.Gln3260=)
c.5964A= (p.Gln1988=)
c.5517A= (p.Gln1839=)
c.4854A= (p.Gln1618=)
c.9369A= (p.Gln3123=)
5g.13753339T>ACA359191344DNAH5c.10766A>T (p.Gln3589Leu)
c.10721A>T (p.Gln3574Leu)
c.10874A>T (p.Gln3625Leu)
c.9779A>T (p.Gln3260Leu)
c.5963A>T (p.Gln1988Leu)
c.5516A>T (p.Gln1839Leu)
c.4853A>T (p.Gln1618Leu)
c.9368A>T (p.Gln3123Leu)
5g.13753339T>CCA359191346DNAH5c.10766A>G (p.Gln3589Arg)
c.10721A>G (p.Gln3574Arg)
c.10874A>G (p.Gln3625Arg)
c.9779A>G (p.Gln3260Arg)
c.5963A>G (p.Gln1988Arg)
c.5516A>G (p.Gln1839Arg)
c.4853A>G (p.Gln1618Arg)
c.9368A>G (p.Gln3123Arg)
5g.13753339T>GCA359191349DNAH5c.10766A>C (p.Gln3589Pro)
c.10721A>C (p.Gln3574Pro)
c.10874A>C (p.Gln3625Pro)
c.9779A>C (p.Gln3260Pro)
c.5963A>C (p.Gln1988Pro)
c.5516A>C (p.Gln1839Pro)
c.4853A>C (p.Gln1618Pro)
c.9368A>C (p.Gln3123Pro)
5g.13753340G>ACA359191351DNAH5c.10765C>T (p.Gln3589Ter)
c.10720C>T (p.Gln3574Ter)
c.10873C>T (p.Gln3625Ter)
c.9778C>T (p.Gln3260Ter)
c.5962C>T (p.Gln1988Ter)
c.5515C>T (p.Gln1839Ter)
c.4852C>T (p.Gln1618Ter)
c.9367C>T (p.Gln3123Ter)
5g.13753340G>CCA359191355DNAH5c.10765C>G (p.Gln3589Glu)
c.10720C>G (p.Gln3574Glu)
c.10873C>G (p.Gln3625Glu)
c.9778C>G (p.Gln3260Glu)
c.5962C>G (p.Gln1988Glu)
c.5515C>G (p.Gln1839Glu)
c.4852C>G (p.Gln1618Glu)
c.9367C>G (p.Gln3123Glu)
5g.13753340G=CA1528423477DNAH5c.10765C= (p.Gln3589=)
c.10720C= (p.Gln3574=)
c.10873C= (p.Gln3625=)
c.9778C= (p.Gln3260=)
c.5962C= (p.Gln1988=)
c.5515C= (p.Gln1839=)
c.4852C= (p.Gln1618=)
c.9367C= (p.Gln3123=)
5g.13753340G>TCA359191353DNAH5c.10765C>A (p.Gln3589Lys)
c.10720C>A (p.Gln3574Lys)
c.10873C>A (p.Gln3625Lys)
c.9778C>A (p.Gln3260Lys)
c.5962C>A (p.Gln1988Lys)
c.5515C>A (p.Gln1839Lys)
c.4852C>A (p.Gln1618Lys)
c.9367C>A (p.Gln3123Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.13753340_13753341delinsTCA2580072145DNAH5c.10764_10765delinsA (p.Gln3589LysfsTer15)
c.10719_10720delinsA (p.Gln3574LysfsTer15)
c.10872_10873delinsA (p.Gln3625LysfsTer15)
c.9777_9778delinsA (p.Gln3260LysfsTer15)
c.5961_5962delinsA (p.Gln1988LysfsTer15)
c.5514_5515delinsA (p.Gln1839LysfsTer15)
c.4851_4852delinsA (p.Gln1618LysfsTer15)
c.9366_9367delinsA (p.Gln3123LysfsTer15)
 ClinVar
5g.13753341A=CA1528423478DNAH5c.10764T= (p.Ile3588=)
c.10719T= (p.Ile3573=)
c.10872T= (p.Ile3624=)
c.9777T= (p.Ile3259=)
c.5961T= (p.Ile1987=)
c.5514T= (p.Ile1838=)
c.4851T= (p.Ile1617=)
c.9366T= (p.Ile3122=)
5g.13753341A>CCA359191356DNAH5c.10764T>G (p.Ile3588Met)
c.10719T>G (p.Ile3573Met)
c.10872T>G (p.Ile3624Met)
c.9777T>G (p.Ile3259Met)
c.5961T>G (p.Ile1987Met)
c.5514T>G (p.Ile1838Met)
c.4851T>G (p.Ile1617Met)
c.9366T>G (p.Ile3122Met)
 dbSNP gnomAD v3 gnomAD v4
5g.13753341A>GCA443535532DNAH5c.10764T>C (p.Ile3588=)
c.10719T>C (p.Ile3573=)
c.10872T>C (p.Ile3624=)
c.9777T>C (p.Ile3259=)
c.5961T>C (p.Ile1987=)
c.5514T>C (p.Ile1838=)
c.4851T>C (p.Ile1617=)
c.9366T>C (p.Ile3122=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13753341A>TCA443535531DNAH5c.10764T>A (p.Ile3588=)
c.10719T>A (p.Ile3573=)
c.10872T>A (p.Ile3624=)
c.9777T>A (p.Ile3259=)
c.5961T>A (p.Ile1987=)
c.5514T>A (p.Ile1838=)
c.4851T>A (p.Ile1617=)
c.9366T>A (p.Ile3122=)
5g.13753342A>CCA359191357DNAH5c.10763T>G (p.Ile3588Ser)
c.10718T>G (p.Ile3573Ser)
c.10871T>G (p.Ile3624Ser)
c.9776T>G (p.Ile3259Ser)
c.5960T>G (p.Ile1987Ser)
c.5513T>G (p.Ile1838Ser)
c.4850T>G (p.Ile1617Ser)
c.9365T>G (p.Ile3122Ser)
5g.13753342A>GCA359191358DNAH5c.10763T>C (p.Ile3588Thr)
c.10718T>C (p.Ile3573Thr)
c.10871T>C (p.Ile3624Thr)
c.9776T>C (p.Ile3259Thr)
c.5960T>C (p.Ile1987Thr)
c.5513T>C (p.Ile1838Thr)
c.4850T>C (p.Ile1617Thr)
c.9365T>C (p.Ile3122Thr)
5g.13753342A>TCA359191359DNAH5c.10763T>A (p.Ile3588Asn)
c.10718T>A (p.Ile3573Asn)
c.10871T>A (p.Ile3624Asn)
c.9776T>A (p.Ile3259Asn)
c.5960T>A (p.Ile1987Asn)
c.5513T>A (p.Ile1838Asn)
c.4850T>A (p.Ile1617Asn)
c.9365T>A (p.Ile3122Asn)
5g.13753343T>ACA359191362DNAH5c.10762A>T (p.Ile3588Phe)
c.10717A>T (p.Ile3573Phe)
c.10870A>T (p.Ile3624Phe)
c.9775A>T (p.Ile3259Phe)
c.5959A>T (p.Ile1987Phe)
c.5512A>T (p.Ile1838Phe)
c.4849A>T (p.Ile1617Phe)
c.9364A>T (p.Ile3122Phe)
5g.13753343T>CCA359191364DNAH5c.10762A>G (p.Ile3588Val)
c.10717A>G (p.Ile3573Val)
c.10870A>G (p.Ile3624Val)
c.9775A>G (p.Ile3259Val)
c.5959A>G (p.Ile1987Val)
c.5512A>G (p.Ile1838Val)
c.4849A>G (p.Ile1617Val)
c.9364A>G (p.Ile3122Val)
5g.13753343T>GCA359191367DNAH5c.10762A>C (p.Ile3588Leu)
c.10717A>C (p.Ile3573Leu)
c.10870A>C (p.Ile3624Leu)
c.9775A>C (p.Ile3259Leu)
c.5959A>C (p.Ile1987Leu)
c.5512A>C (p.Ile1838Leu)
c.4849A>C (p.Ile1617Leu)
c.9364A>C (p.Ile3122Leu)
5g.13753344G>ACA443535534DNAH5c.10761C>T (p.Ser3587=)
c.10716C>T (p.Ser3572=)
c.10869C>T (p.Ser3623=)
c.9774C>T (p.Ser3258=)
c.5958C>T (p.Ser1986=)
c.5511C>T (p.Ser1837=)
c.4848C>T (p.Ser1616=)
c.9363C>T (p.Ser3121=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13753344G>CCA443535535DNAH5c.10761C>G (p.Ser3587=)
c.10716C>G (p.Ser3572=)
c.10869C>G (p.Ser3623=)
c.9774C>G (p.Ser3258=)
c.5958C>G (p.Ser1986=)
c.5511C>G (p.Ser1837=)
c.4848C>G (p.Ser1616=)
c.9363C>G (p.Ser3121=)
5g.13753344G=CA1528423479DNAH5c.10761C= (p.Ser3587=)
c.10716C= (p.Ser3572=)
c.10869C= (p.Ser3623=)
c.9774C= (p.Ser3258=)
c.5958C= (p.Ser1986=)
c.5511C= (p.Ser1837=)
c.4848C= (p.Ser1616=)
c.9363C= (p.Ser3121=)
5g.13753344G>TCA443535536DNAH5c.10761C>A (p.Ser3587=)
c.10716C>A (p.Ser3572=)
c.10869C>A (p.Ser3623=)
c.9774C>A (p.Ser3258=)
c.5958C>A (p.Ser1986=)
c.5511C>A (p.Ser1837=)
c.4848C>A (p.Ser1616=)
c.9363C>A (p.Ser3121=)
 ClinVar dbSNP gnomAD v4
5g.13753345G>ACA359191370DNAH5c.10760C>T (p.Ser3587Phe)
c.10715C>T (p.Ser3572Phe)
c.10868C>T (p.Ser3623Phe)
c.9773C>T (p.Ser3258Phe)
c.5957C>T (p.Ser1986Phe)
c.5510C>T (p.Ser1837Phe)
c.4847C>T (p.Ser1616Phe)
c.9362C>T (p.Ser3121Phe)
5g.13753345G>CCA359191380DNAH5c.10760C>G (p.Ser3587Cys)
c.10715C>G (p.Ser3572Cys)
c.10868C>G (p.Ser3623Cys)
c.9773C>G (p.Ser3258Cys)
c.5957C>G (p.Ser1986Cys)
c.5510C>G (p.Ser1837Cys)
c.4847C>G (p.Ser1616Cys)
c.9362C>G (p.Ser3121Cys)
5g.13753345G>TCA359191382DNAH5c.10760C>A (p.Ser3587Tyr)
c.10715C>A (p.Ser3572Tyr)
c.10868C>A (p.Ser3623Tyr)
c.9773C>A (p.Ser3258Tyr)
c.5957C>A (p.Ser1986Tyr)
c.5510C>A (p.Ser1837Tyr)
c.4847C>A (p.Ser1616Tyr)
c.9362C>A (p.Ser3121Tyr)
 COSMIC
5g.13753346A>CCA359191386DNAH5c.10759T>G (p.Ser3587Ala)
c.10714T>G (p.Ser3572Ala)
c.10867T>G (p.Ser3623Ala)
c.9772T>G (p.Ser3258Ala)
c.5956T>G (p.Ser1986Ala)
c.5509T>G (p.Ser1837Ala)
c.4846T>G (p.Ser1616Ala)
c.9361T>G (p.Ser3121Ala)
5g.13753346A>GCA359191385DNAH5c.10759T>C (p.Ser3587Pro)
c.10714T>C (p.Ser3572Pro)
c.10867T>C (p.Ser3623Pro)
c.9772T>C (p.Ser3258Pro)
c.5956T>C (p.Ser1986Pro)
c.5509T>C (p.Ser1837Pro)
c.4846T>C (p.Ser1616Pro)
c.9361T>C (p.Ser3121Pro)
5g.13753346A>TCA359191384DNAH5c.10759T>A (p.Ser3587Thr)
c.10714T>A (p.Ser3572Thr)
c.10867T>A (p.Ser3623Thr)
c.9772T>A (p.Ser3258Thr)
c.5956T>A (p.Ser1986Thr)
c.5509T>A (p.Ser1837Thr)
c.4846T>A (p.Ser1616Thr)
c.9361T>A (p.Ser3121Thr)
5g.13753347C>ACA359191389DNAH5c.10758G>T (p.Leu3586Phe)
c.10713G>T (p.Leu3571Phe)
c.10866G>T (p.Leu3622Phe)
c.9771G>T (p.Leu3257Phe)
c.5955G>T (p.Leu1985Phe)
c.5508G>T (p.Leu1836Phe)
c.4845G>T (p.Leu1615Phe)
c.9360G>T (p.Leu3120Phe)
5g.13753347C=CA1528423480DNAH5c.10758G= (p.Leu3586=)
c.10713G= (p.Leu3571=)
c.10866G= (p.Leu3622=)
c.9771G= (p.Leu3257=)
c.5955G= (p.Leu1985=)
c.5508G= (p.Leu1836=)
c.4845G= (p.Leu1615=)
c.9360G= (p.Leu3120=)
5g.13753347C>GCA359191391DNAH5c.10758G>C (p.Leu3586Phe)
c.10713G>C (p.Leu3571Phe)
c.10866G>C (p.Leu3622Phe)
c.9771G>C (p.Leu3257Phe)
c.5955G>C (p.Leu1985Phe)
c.5508G>C (p.Leu1836Phe)
c.4845G>C (p.Leu1615Phe)
c.9360G>C (p.Leu3120Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.13753347C>TCA443535539DNAH5c.10758G>A (p.Leu3586=)
c.10713G>A (p.Leu3571=)
c.10866G>A (p.Leu3622=)
c.9771G>A (p.Leu3257=)
c.5955G>A (p.Leu1985=)
c.5508G>A (p.Leu1836=)
c.4845G>A (p.Leu1615=)
c.9360G>A (p.Leu3120=)
5g.13753348A>CCA359191394DNAH5c.10757T>G (p.Leu3586Trp)
c.10712T>G (p.Leu3571Trp)
c.10865T>G (p.Leu3622Trp)
c.9770T>G (p.Leu3257Trp)
c.5954T>G (p.Leu1985Trp)
c.5507T>G (p.Leu1836Trp)
c.4844T>G (p.Leu1615Trp)
c.9359T>G (p.Leu3120Trp)
5g.13753348A>GCA359191397DNAH5c.10757T>C (p.Leu3586Ser)
c.10712T>C (p.Leu3571Ser)
c.10865T>C (p.Leu3622Ser)
c.9770T>C (p.Leu3257Ser)
c.5954T>C (p.Leu1985Ser)
c.5507T>C (p.Leu1836Ser)
c.4844T>C (p.Leu1615Ser)
c.9359T>C (p.Leu3120Ser)
5g.13753348A>TCA359191399DNAH5c.10757T>A (p.Leu3586Ter)
c.10712T>A (p.Leu3571Ter)
c.10865T>A (p.Leu3622Ter)
c.9770T>A (p.Leu3257Ter)
c.5954T>A (p.Leu1985Ter)
c.5507T>A (p.Leu1836Ter)
c.4844T>A (p.Leu1615Ter)
c.9359T>A (p.Leu3120Ter)
5g.13753349A>CCA359191404DNAH5c.10756T>G (p.Leu3586Val)
c.10711T>G (p.Leu3571Val)
c.10864T>G (p.Leu3622Val)
c.9769T>G (p.Leu3257Val)
c.5953T>G (p.Leu1985Val)
c.5506T>G (p.Leu1836Val)
c.4843T>G (p.Leu1615Val)
c.9358T>G (p.Leu3120Val)
5g.13753349A>GCA443535540DNAH5c.10756T>C (p.Leu3586=)
c.10711T>C (p.Leu3571=)
c.10864T>C (p.Leu3622=)
c.9769T>C (p.Leu3257=)
c.5953T>C (p.Leu1985=)
c.5506T>C (p.Leu1836=)
c.4843T>C (p.Leu1615=)
c.9358T>C (p.Leu3120=)
 gnomAD v4
5g.13753349A>TCA359191405DNAH5c.10756T>A (p.Leu3586Met)
c.10711T>A (p.Leu3571Met)
c.10864T>A (p.Leu3622Met)
c.9769T>A (p.Leu3257Met)
c.5953T>A (p.Leu1985Met)
c.5506T>A (p.Leu1836Met)
c.4843T>A (p.Leu1615Met)
c.9358T>A (p.Leu3120Met)
5g.13753350G>ACA443535541DNAH5c.10755C>T (p.Asp3585=)
c.10710C>T (p.Asp3570=)
c.10863C>T (p.Asp3621=)
c.9768C>T (p.Asp3256=)
c.5952C>T (p.Asp1984=)
c.5505C>T (p.Asp1835=)
c.4842C>T (p.Asp1614=)
c.9357C>T (p.Asp3119=)
 ClinVar gnomAD v4
5g.13753350G>CCA359191407DNAH5c.10755C>G (p.Asp3585Glu)
c.10710C>G (p.Asp3570Glu)
c.10863C>G (p.Asp3621Glu)
c.9768C>G (p.Asp3256Glu)
c.5952C>G (p.Asp1984Glu)
c.5505C>G (p.Asp1835Glu)
c.4842C>G (p.Asp1614Glu)
c.9357C>G (p.Asp3119Glu)
5g.13753350G>TCA359191410DNAH5c.10755C>A (p.Asp3585Glu)
c.10710C>A (p.Asp3570Glu)
c.10863C>A (p.Asp3621Glu)
c.9768C>A (p.Asp3256Glu)
c.5952C>A (p.Asp1984Glu)
c.5505C>A (p.Asp1835Glu)
c.4842C>A (p.Asp1614Glu)
c.9357C>A (p.Asp3119Glu)
 gnomAD v4
5g.13753351T>ACA359191412DNAH5c.10754A>T (p.Asp3585Val)
c.10709A>T (p.Asp3570Val)
c.10862A>T (p.Asp3621Val)
c.9767A>T (p.Asp3256Val)
c.5951A>T (p.Asp1984Val)
c.5504A>T (p.Asp1835Val)
c.4841A>T (p.Asp1614Val)
c.9356A>T (p.Asp3119Val)
5g.13753351T>CCA359191414DNAH5c.10754A>G (p.Asp3585Gly)
c.10709A>G (p.Asp3570Gly)
c.10862A>G (p.Asp3621Gly)
c.9767A>G (p.Asp3256Gly)
c.5951A>G (p.Asp1984Gly)
c.5504A>G (p.Asp1835Gly)
c.4841A>G (p.Asp1614Gly)
c.9356A>G (p.Asp3119Gly)
5g.13753351T>GCA359191419DNAH5c.10754A>C (p.Asp3585Ala)
c.10709A>C (p.Asp3570Ala)
c.10862A>C (p.Asp3621Ala)
c.9767A>C (p.Asp3256Ala)
c.5951A>C (p.Asp1984Ala)
c.5504A>C (p.Asp1835Ala)
c.4841A>C (p.Asp1614Ala)
c.9356A>C (p.Asp3119Ala)
5g.13753352C>ACA359191421DNAH5c.10753G>T (p.Asp3585Tyr)
c.10708G>T (p.Asp3570Tyr)
c.10861G>T (p.Asp3621Tyr)
c.9766G>T (p.Asp3256Tyr)
c.5950G>T (p.Asp1984Tyr)
c.5503G>T (p.Asp1835Tyr)
c.4840G>T (p.Asp1614Tyr)
c.9355G>T (p.Asp3119Tyr)
5g.13753352C=CA1528423481DNAH5c.10753G= (p.Asp3585=)
c.10708G= (p.Asp3570=)
c.10861G= (p.Asp3621=)
c.9766G= (p.Asp3256=)
c.5950G= (p.Asp1984=)
c.5503G= (p.Asp1835=)
c.4840G= (p.Asp1614=)
c.9355G= (p.Asp3119=)
5g.13753352C>GCA359191422DNAH5c.10753G>C (p.Asp3585His)
c.10708G>C (p.Asp3570His)
c.10861G>C (p.Asp3621His)
c.9766G>C (p.Asp3256His)
c.5950G>C (p.Asp1984His)
c.5503G>C (p.Asp1835His)
c.4840G>C (p.Asp1614His)
c.9355G>C (p.Asp3119His)
5g.13753352C>TCA359191424DNAH5c.10753G>A (p.Asp3585Asn)
c.10708G>A (p.Asp3570Asn)
c.10861G>A (p.Asp3621Asn)
c.9766G>A (p.Asp3256Asn)
c.5950G>A (p.Asp1984Asn)
c.5503G>A (p.Asp1835Asn)
c.4840G>A (p.Asp1614Asn)
c.9355G>A (p.Asp3119Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753353A=CA1528423482DNAH5c.10752T= (p.Asp3584=)
c.10707T= (p.Asp3569=)
c.10860T= (p.Asp3620=)
c.9765T= (p.Asp3255=)
c.5949T= (p.Asp1983=)
c.5502T= (p.Asp1834=)
c.4839T= (p.Asp1613=)
c.9354T= (p.Asp3118=)
5g.13753353A>CCA359191429DNAH5c.10752T>G (p.Asp3584Glu)
c.10707T>G (p.Asp3569Glu)
c.10860T>G (p.Asp3620Glu)
c.9765T>G (p.Asp3255Glu)
c.5949T>G (p.Asp1983Glu)
c.5502T>G (p.Asp1834Glu)
c.4839T>G (p.Asp1613Glu)
c.9354T>G (p.Asp3118Glu)
5g.13753353A>GCA113918941DNAH5c.10752T>C (p.Asp3584=)
c.10707T>C (p.Asp3569=)
c.10860T>C (p.Asp3620=)
c.9765T>C (p.Asp3255=)
c.5949T>C (p.Asp1983=)
c.5502T>C (p.Asp1834=)
c.4839T>C (p.Asp1613=)
c.9354T>C (p.Asp3118=)
 ClinVar dbSNP gnomAD v4
5g.13753353A>TCA359191431DNAH5c.10752T>A (p.Asp3584Glu)
c.10707T>A (p.Asp3569Glu)
c.10860T>A (p.Asp3620Glu)
c.9765T>A (p.Asp3255Glu)
c.5949T>A (p.Asp1983Glu)
c.5502T>A (p.Asp1834Glu)
c.4839T>A (p.Asp1613Glu)
c.9354T>A (p.Asp3118Glu)
5g.13753354T>ACA359191433DNAH5c.10751A>T (p.Asp3584Val)
c.10706A>T (p.Asp3569Val)
c.10859A>T (p.Asp3620Val)
c.9764A>T (p.Asp3255Val)
c.5948A>T (p.Asp1983Val)
c.5501A>T (p.Asp1834Val)
c.4838A>T (p.Asp1613Val)
c.9353A>T (p.Asp3118Val)
5g.13753354T>CCA359191435DNAH5c.10751A>G (p.Asp3584Gly)
c.10706A>G (p.Asp3569Gly)
c.10859A>G (p.Asp3620Gly)
c.9764A>G (p.Asp3255Gly)
c.5948A>G (p.Asp1983Gly)
c.5501A>G (p.Asp1834Gly)
c.4838A>G (p.Asp1613Gly)
c.9353A>G (p.Asp3118Gly)
5g.13753354T>GCA359191440DNAH5c.10751A>C (p.Asp3584Ala)
c.10706A>C (p.Asp3569Ala)
c.10859A>C (p.Asp3620Ala)
c.9764A>C (p.Asp3255Ala)
c.5948A>C (p.Asp1983Ala)
c.5501A>C (p.Asp1834Ala)
c.4838A>C (p.Asp1613Ala)
c.9353A>C (p.Asp3118Ala)
5g.13753355C>ACA359191442DNAH5c.10750G>T (p.Asp3584Tyr)
c.10705G>T (p.Asp3569Tyr)
c.10858G>T (p.Asp3620Tyr)
c.9763G>T (p.Asp3255Tyr)
c.5947G>T (p.Asp1983Tyr)
c.5500G>T (p.Asp1834Tyr)
c.4837G>T (p.Asp1613Tyr)
c.9352G>T (p.Asp3118Tyr)
5g.13753355C>GCA359191443DNAH5c.10750G>C (p.Asp3584His)
c.10705G>C (p.Asp3569His)
c.10858G>C (p.Asp3620His)
c.9763G>C (p.Asp3255His)
c.5947G>C (p.Asp1983His)
c.5500G>C (p.Asp1834His)
c.4837G>C (p.Asp1613His)
c.9352G>C (p.Asp3118His)
5g.13753355C>TCA359191445DNAH5c.10750G>A (p.Asp3584Asn)
c.10705G>A (p.Asp3569Asn)
c.10858G>A (p.Asp3620Asn)
c.9763G>A (p.Asp3255Asn)
c.5947G>A (p.Asp1983Asn)
c.5500G>A (p.Asp1834Asn)
c.4837G>A (p.Asp1613Asn)
c.9352G>A (p.Asp3118Asn)
 gnomAD v4 COSMIC
5g.13753356A>CCA359191448DNAH5c.10749T>G (p.Asn3583Lys)
c.10704T>G (p.Asn3568Lys)
c.10857T>G (p.Asn3619Lys)
c.9762T>G (p.Asn3254Lys)
c.5946T>G (p.Asn1982Lys)
c.5499T>G (p.Asn1833Lys)
c.4836T>G (p.Asn1612Lys)
c.9351T>G (p.Asn3117Lys)
5g.13753356A>GCA443535545DNAH5c.10749T>C (p.Asn3583=)
c.10704T>C (p.Asn3568=)
c.10857T>C (p.Asn3619=)
c.9762T>C (p.Asn3254=)
c.5946T>C (p.Asn1982=)
c.5499T>C (p.Asn1833=)
c.4836T>C (p.Asn1612=)
c.9351T>C (p.Asn3117=)
5g.13753356A>TCA359191451DNAH5c.10749T>A (p.Asn3583Lys)
c.10704T>A (p.Asn3568Lys)
c.10857T>A (p.Asn3619Lys)
c.9762T>A (p.Asn3254Lys)
c.5946T>A (p.Asn1982Lys)
c.5499T>A (p.Asn1833Lys)
c.4836T>A (p.Asn1612Lys)
c.9351T>A (p.Asn3117Lys)
5g.13753357T>ACA359191452DNAH5c.10748A>T (p.Asn3583Ile)
c.10703A>T (p.Asn3568Ile)
c.10856A>T (p.Asn3619Ile)
c.9761A>T (p.Asn3254Ile)
c.5945A>T (p.Asn1982Ile)
c.5498A>T (p.Asn1833Ile)
c.4835A>T (p.Asn1612Ile)
c.9350A>T (p.Asn3117Ile)
 dbSNP
5g.13753357T>CCA3202145DNAH5c.10748A>G (p.Asn3583Ser)
c.10703A>G (p.Asn3568Ser)
c.10856A>G (p.Asn3619Ser)
c.9761A>G (p.Asn3254Ser)
c.5945A>G (p.Asn1982Ser)
c.5498A>G (p.Asn1833Ser)
c.4835A>G (p.Asn1612Ser)
c.9350A>G (p.Asn3117Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753357T>GCA359191453DNAH5c.10748A>C (p.Asn3583Thr)
c.10703A>C (p.Asn3568Thr)
c.10856A>C (p.Asn3619Thr)
c.9761A>C (p.Asn3254Thr)
c.5945A>C (p.Asn1982Thr)
c.5498A>C (p.Asn1833Thr)
c.4835A>C (p.Asn1612Thr)
c.9350A>C (p.Asn3117Thr)
5g.13753357T=CA1528423483DNAH5c.10748A= (p.Asn3583=)
c.10703A= (p.Asn3568=)
c.10856A= (p.Asn3619=)
c.9761A= (p.Asn3254=)
c.5945A= (p.Asn1982=)
c.5498A= (p.Asn1833=)
c.4835A= (p.Asn1612=)
c.9350A= (p.Asn3117=)
5g.13753358T>ACA359191461DNAH5c.10747A>T (p.Asn3583Tyr)
c.10702A>T (p.Asn3568Tyr)
c.10855A>T (p.Asn3619Tyr)
c.9760A>T (p.Asn3254Tyr)
c.5944A>T (p.Asn1982Tyr)
c.5497A>T (p.Asn1833Tyr)
c.4834A>T (p.Asn1612Tyr)
c.9349A>T (p.Asn3117Tyr)
5g.13753358T>CCA359191458DNAH5c.10747A>G (p.Asn3583Asp)
c.10702A>G (p.Asn3568Asp)
c.10855A>G (p.Asn3619Asp)
c.9760A>G (p.Asn3254Asp)
c.5944A>G (p.Asn1982Asp)
c.5497A>G (p.Asn1833Asp)
c.4834A>G (p.Asn1612Asp)
c.9349A>G (p.Asn3117Asp)
 gnomAD v4
5g.13753358T>GCA359191455DNAH5c.10747A>C (p.Asn3583His)
c.10702A>C (p.Asn3568His)
c.10855A>C (p.Asn3619His)
c.9760A>C (p.Asn3254His)
c.5944A>C (p.Asn1982His)
c.5497A>C (p.Asn1833His)
c.4834A>C (p.Asn1612His)
c.9349A>C (p.Asn3117His)
5g.13753359T>ACA443535549DNAH5c.10746A>T (p.Pro3582=)
c.10701A>T (p.Pro3567=)
c.10854A>T (p.Pro3618=)
c.9759A>T (p.Pro3253=)
c.5943A>T (p.Pro1981=)
c.5496A>T (p.Pro1832=)
c.4833A>T (p.Pro1611=)
c.9348A>T (p.Pro3116=)
5g.13753359T>CCA443535550DNAH5c.10746A>G (p.Pro3582=)
c.10701A>G (p.Pro3567=)
c.10854A>G (p.Pro3618=)
c.9759A>G (p.Pro3253=)
c.5943A>G (p.Pro1981=)
c.5496A>G (p.Pro1832=)
c.4833A>G (p.Pro1611=)
c.9348A>G (p.Pro3116=)
5g.13753359T>GCA443535551DNAH5c.10746A>C (p.Pro3582=)
c.10701A>C (p.Pro3567=)
c.10854A>C (p.Pro3618=)
c.9759A>C (p.Pro3253=)
c.5943A>C (p.Pro1981=)
c.5496A>C (p.Pro1832=)
c.4833A>C (p.Pro1611=)
c.9348A>C (p.Pro3116=)
5g.13753360G>ACA359191465DNAH5c.10745C>T (p.Pro3582Leu)
c.10700C>T (p.Pro3567Leu)
c.10853C>T (p.Pro3618Leu)
c.9758C>T (p.Pro3253Leu)
c.5942C>T (p.Pro1981Leu)
c.5495C>T (p.Pro1832Leu)
c.4832C>T (p.Pro1611Leu)
c.9347C>T (p.Pro3116Leu)
5g.13753360G>CCA359191468DNAH5c.10745C>G (p.Pro3582Arg)
c.10700C>G (p.Pro3567Arg)
c.10853C>G (p.Pro3618Arg)
c.9758C>G (p.Pro3253Arg)
c.5942C>G (p.Pro1981Arg)
c.5495C>G (p.Pro1832Arg)
c.4832C>G (p.Pro1611Arg)
c.9347C>G (p.Pro3116Arg)
5g.13753360G>TCA359191470DNAH5c.10745C>A (p.Pro3582Gln)
c.10700C>A (p.Pro3567Gln)
c.10853C>A (p.Pro3618Gln)
c.9758C>A (p.Pro3253Gln)
c.5942C>A (p.Pro1981Gln)
c.5495C>A (p.Pro1832Gln)
c.4832C>A (p.Pro1611Gln)
c.9347C>A (p.Pro3116Gln)
5g.13753361G>ACA113918954DNAH5c.10744C>T (p.Pro3582Ser)
c.10699C>T (p.Pro3567Ser)
c.10852C>T (p.Pro3618Ser)
c.9757C>T (p.Pro3253Ser)
c.5941C>T (p.Pro1981Ser)
c.5494C>T (p.Pro1832Ser)
c.4831C>T (p.Pro1611Ser)
c.9346C>T (p.Pro3116Ser)
 dbSNP gnomAD v4
5g.13753361G>CCA359191475DNAH5c.10744C>G (p.Pro3582Ala)
c.10699C>G (p.Pro3567Ala)
c.10852C>G (p.Pro3618Ala)
c.9757C>G (p.Pro3253Ala)
c.5941C>G (p.Pro1981Ala)
c.5494C>G (p.Pro1832Ala)
c.4831C>G (p.Pro1611Ala)
c.9346C>G (p.Pro3116Ala)
5g.13753361G=CA1528423484DNAH5c.10744C= (p.Pro3582=)
c.10699C= (p.Pro3567=)
c.10852C= (p.Pro3618=)
c.9757C= (p.Pro3253=)
c.5941C= (p.Pro1981=)
c.5494C= (p.Pro1832=)
c.4831C= (p.Pro1611=)
c.9346C= (p.Pro3116=)
5g.13753361G>TCA359191481DNAH5c.10744C>A (p.Pro3582Thr)
c.10699C>A (p.Pro3567Thr)
c.10852C>A (p.Pro3618Thr)
c.9757C>A (p.Pro3253Thr)
c.5941C>A (p.Pro1981Thr)
c.5494C>A (p.Pro1832Thr)
c.4831C>A (p.Pro1611Thr)
c.9346C>A (p.Pro3116Thr)
 dbSNP gnomAD v4
5g.13753362C>ACA443535555DNAH5c.10743G>T (p.Leu3581=)
c.10698G>T (p.Leu3566=)
c.10851G>T (p.Leu3617=)
c.9756G>T (p.Leu3252=)
c.5940G>T (p.Leu1980=)
c.5493G>T (p.Leu1831=)
c.4830G>T (p.Leu1610=)
c.9345G>T (p.Leu3115=)
 ClinVar dbSNP gnomAD v4
5g.13753362C>GCA443535556DNAH5c.10743G>C (p.Leu3581=)
c.10698G>C (p.Leu3566=)
c.10851G>C (p.Leu3617=)
c.9756G>C (p.Leu3252=)
c.5940G>C (p.Leu1980=)
c.5493G>C (p.Leu1831=)
c.4830G>C (p.Leu1610=)
c.9345G>C (p.Leu3115=)
5g.13753362C>TCA443535557DNAH5c.10743G>A (p.Leu3581=)
c.10698G>A (p.Leu3566=)
c.10851G>A (p.Leu3617=)
c.9756G>A (p.Leu3252=)
c.5940G>A (p.Leu1980=)
c.5493G>A (p.Leu1831=)
c.4830G>A (p.Leu1610=)
c.9345G>A (p.Leu3115=)
5g.13753363A>CCA359191487DNAH5c.10742T>G (p.Leu3581Arg)
c.10697T>G (p.Leu3566Arg)
c.10850T>G (p.Leu3617Arg)
c.9755T>G (p.Leu3252Arg)
c.5939T>G (p.Leu1980Arg)
c.5492T>G (p.Leu1831Arg)
c.4829T>G (p.Leu1610Arg)
c.9344T>G (p.Leu3115Arg)
5g.13753363A>GCA359191484DNAH5c.10742T>C (p.Leu3581Pro)
c.10697T>C (p.Leu3566Pro)
c.10850T>C (p.Leu3617Pro)
c.9755T>C (p.Leu3252Pro)
c.5939T>C (p.Leu1980Pro)
c.5492T>C (p.Leu1831Pro)
c.4829T>C (p.Leu1610Pro)
c.9344T>C (p.Leu3115Pro)
5g.13753363A>TCA359191485DNAH5c.10742T>A (p.Leu3581Gln)
c.10697T>A (p.Leu3566Gln)
c.10850T>A (p.Leu3617Gln)
c.9755T>A (p.Leu3252Gln)
c.5939T>A (p.Leu1980Gln)
c.5492T>A (p.Leu1831Gln)
c.4829T>A (p.Leu1610Gln)
c.9344T>A (p.Leu3115Gln)
5g.13753364G>ACA443535559DNAH5c.10741C>T (p.Leu3581=)
c.10696C>T (p.Leu3566=)
c.10849C>T (p.Leu3617=)
c.9754C>T (p.Leu3252=)
c.5938C>T (p.Leu1980=)
c.5491C>T (p.Leu1831=)
c.4828C>T (p.Leu1610=)
c.9343C>T (p.Leu3115=)
5g.13753364G>CCA359191488DNAH5c.10741C>G (p.Leu3581Val)
c.10696C>G (p.Leu3566Val)
c.10849C>G (p.Leu3617Val)
c.9754C>G (p.Leu3252Val)
c.5938C>G (p.Leu1980Val)
c.5491C>G (p.Leu1831Val)
c.4828C>G (p.Leu1610Val)
c.9343C>G (p.Leu3115Val)
5g.13753364G>TCA359191490DNAH5c.10741C>A (p.Leu3581Met)
c.10696C>A (p.Leu3566Met)
c.10849C>A (p.Leu3617Met)
c.9754C>A (p.Leu3252Met)
c.5938C>A (p.Leu1980Met)
c.5491C>A (p.Leu1831Met)
c.4828C>A (p.Leu1610Met)
c.9343C>A (p.Leu3115Met)
5g.13753365A>CCA443535560DNAH5c.10740T>G (p.Gly3580=)
c.10695T>G (p.Gly3565=)
c.10848T>G (p.Gly3616=)
c.9753T>G (p.Gly3251=)
c.5937T>G (p.Gly1979=)
c.5490T>G (p.Gly1830=)
c.4827T>G (p.Gly1609=)
c.9342T>G (p.Gly3114=)
5g.13753365A>GCA443535561DNAH5c.10740T>C (p.Gly3580=)
c.10695T>C (p.Gly3565=)
c.10848T>C (p.Gly3616=)
c.9753T>C (p.Gly3251=)
c.5937T>C (p.Gly1979=)
c.5490T>C (p.Gly1830=)
c.4827T>C (p.Gly1609=)
c.9342T>C (p.Gly3114=)
5g.13753365A>TCA443535562DNAH5c.10740T>A (p.Gly3580=)
c.10695T>A (p.Gly3565=)
c.10848T>A (p.Gly3616=)
c.9753T>A (p.Gly3251=)
c.5937T>A (p.Gly1979=)
c.5490T>A (p.Gly1830=)
c.4827T>A (p.Gly1609=)
c.9342T>A (p.Gly3114=)
 ClinVar dbSNP
5g.13753366C>ACA359191492DNAH5c.10739G>T (p.Gly3580Val)
c.10694G>T (p.Gly3565Val)
c.10847G>T (p.Gly3616Val)
c.9752G>T (p.Gly3251Val)
c.5936G>T (p.Gly1979Val)
c.5489G>T (p.Gly1830Val)
c.4826G>T (p.Gly1609Val)
c.9341G>T (p.Gly3114Val)
5g.13753366C>GCA359191493DNAH5c.10739G>C (p.Gly3580Ala)
c.10694G>C (p.Gly3565Ala)
c.10847G>C (p.Gly3616Ala)
c.9752G>C (p.Gly3251Ala)
c.5936G>C (p.Gly1979Ala)
c.5489G>C (p.Gly1830Ala)
c.4826G>C (p.Gly1609Ala)
c.9341G>C (p.Gly3114Ala)
5g.13753366C>TCA359191495DNAH5c.10739G>A (p.Gly3580Asp)
c.10694G>A (p.Gly3565Asp)
c.10847G>A (p.Gly3616Asp)
c.9752G>A (p.Gly3251Asp)
c.5936G>A (p.Gly1979Asp)
c.5489G>A (p.Gly1830Asp)
c.4826G>A (p.Gly1609Asp)
c.9341G>A (p.Gly3114Asp)
5g.13753367C>ACA359191496DNAH5c.10738G>T (p.Gly3580Cys)
c.10693G>T (p.Gly3565Cys)
c.10846G>T (p.Gly3616Cys)
c.9751G>T (p.Gly3251Cys)
c.5935G>T (p.Gly1979Cys)
c.5488G>T (p.Gly1830Cys)
c.4825G>T (p.Gly1609Cys)
c.9340G>T (p.Gly3114Cys)
5g.13753367C=CA1528423485DNAH5c.10738G= (p.Gly3580=)
c.10693G= (p.Gly3565=)
c.10846G= (p.Gly3616=)
c.9751G= (p.Gly3251=)
c.5935G= (p.Gly1979=)
c.5488G= (p.Gly1830=)
c.4825G= (p.Gly1609=)
c.9340G= (p.Gly3114=)
5g.13753367C>GCA359191498DNAH5c.10738G>C (p.Gly3580Arg)
c.10693G>C (p.Gly3565Arg)
c.10846G>C (p.Gly3616Arg)
c.9751G>C (p.Gly3251Arg)
c.5935G>C (p.Gly1979Arg)
c.5488G>C (p.Gly1830Arg)
c.4825G>C (p.Gly1609Arg)
c.9340G>C (p.Gly3114Arg)
5g.13753367C>TCA10620200DNAH5c.10738G>A (p.Gly3580Ser)
c.10693G>A (p.Gly3565Ser)
c.10846G>A (p.Gly3616Ser)
c.9751G>A (p.Gly3251Ser)
c.5935G>A (p.Gly1979Ser)
c.5488G>A (p.Gly1830Ser)
c.4825G>A (p.Gly1609Ser)
c.9340G>A (p.Gly3114Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753368T>ACA359191500DNAH5c.10737A>T (p.Gln3579His)
c.10692A>T (p.Gln3564His)
c.10845A>T (p.Gln3615His)
c.9750A>T (p.Gln3250His)
c.5934A>T (p.Gln1978His)
c.5487A>T (p.Gln1829His)
c.4824A>T (p.Gln1608His)
c.9339A>T (p.Gln3113His)
5g.13753368T>CCA443535565DNAH5c.10737A>G (p.Gln3579=)
c.10692A>G (p.Gln3564=)
c.10845A>G (p.Gln3615=)
c.9750A>G (p.Gln3250=)
c.5934A>G (p.Gln1978=)
c.5487A>G (p.Gln1829=)
c.4824A>G (p.Gln1608=)
c.9339A>G (p.Gln3113=)
5g.13753368T>GCA359191501DNAH5c.10737A>C (p.Gln3579His)
c.10692A>C (p.Gln3564His)
c.10845A>C (p.Gln3615His)
c.9750A>C (p.Gln3250His)
c.5934A>C (p.Gln1978His)
c.5487A>C (p.Gln1829His)
c.4824A>C (p.Gln1608His)
c.9339A>C (p.Gln3113His)
5g.13753369T>ACA359191502DNAH5c.10736A>T (p.Gln3579Leu)
c.10691A>T (p.Gln3564Leu)
c.10844A>T (p.Gln3615Leu)
c.9749A>T (p.Gln3250Leu)
c.5933A>T (p.Gln1978Leu)
c.5486A>T (p.Gln1829Leu)
c.4823A>T (p.Gln1608Leu)
c.9338A>T (p.Gln3113Leu)
5g.13753369T>CCA359191504DNAH5c.10736A>G (p.Gln3579Arg)
c.10691A>G (p.Gln3564Arg)
c.10844A>G (p.Gln3615Arg)
c.9749A>G (p.Gln3250Arg)
c.5933A>G (p.Gln1978Arg)
c.5486A>G (p.Gln1829Arg)
c.4823A>G (p.Gln1608Arg)
c.9338A>G (p.Gln3113Arg)
5g.13753369T>GCA359191506DNAH5c.10736A>C (p.Gln3579Pro)
c.10691A>C (p.Gln3564Pro)
c.10844A>C (p.Gln3615Pro)
c.9749A>C (p.Gln3250Pro)
c.5933A>C (p.Gln1978Pro)
c.5486A>C (p.Gln1829Pro)
c.4823A>C (p.Gln1608Pro)
c.9338A>C (p.Gln3113Pro)
 gnomAD v4
5g.13753370G>ACA359191512DNAH5c.10735C>T (p.Gln3579Ter)
c.10690C>T (p.Gln3564Ter)
c.10843C>T (p.Gln3615Ter)
c.9748C>T (p.Gln3250Ter)
c.5932C>T (p.Gln1978Ter)
c.5485C>T (p.Gln1829Ter)
c.4822C>T (p.Gln1608Ter)
c.9337C>T (p.Gln3113Ter)
 ClinVar
5g.13753370G>CCA359191514DNAH5c.10735C>G (p.Gln3579Glu)
c.10690C>G (p.Gln3564Glu)
c.10843C>G (p.Gln3615Glu)
c.9748C>G (p.Gln3250Glu)
c.5932C>G (p.Gln1978Glu)
c.5485C>G (p.Gln1829Glu)
c.4822C>G (p.Gln1608Glu)
c.9337C>G (p.Gln3113Glu)
5g.13753370G>TCA359191515DNAH5c.10735C>A (p.Gln3579Lys)
c.10690C>A (p.Gln3564Lys)
c.10843C>A (p.Gln3615Lys)
c.9748C>A (p.Gln3250Lys)
c.5932C>A (p.Gln1978Lys)
c.5485C>A (p.Gln1829Lys)
c.4822C>A (p.Gln1608Lys)
c.9337C>A (p.Gln3113Lys)
5g.13753371G>ACA443535567DNAH5c.10734C>T (p.Leu3578=)
c.10689C>T (p.Leu3563=)
c.10842C>T (p.Leu3614=)
c.9747C>T (p.Leu3249=)
c.5931C>T (p.Leu1977=)
c.5484C>T (p.Leu1828=)
c.4821C>T (p.Leu1607=)
c.9336C>T (p.Leu3112=)
 dbSNP
5g.13753371G>CCA443535569DNAH5c.10734C>G (p.Leu3578=)
c.10689C>G (p.Leu3563=)
c.10842C>G (p.Leu3614=)
c.9747C>G (p.Leu3249=)
c.5931C>G (p.Leu1977=)
c.5484C>G (p.Leu1828=)
c.4821C>G (p.Leu1607=)
c.9336C>G (p.Leu3112=)
5g.13753371G=CA1528423486DNAH5c.10734C= (p.Leu3578=)
c.10689C= (p.Leu3563=)
c.10842C= (p.Leu3614=)
c.9747C= (p.Leu3249=)
c.5931C= (p.Leu1977=)
c.5484C= (p.Leu1828=)
c.4821C= (p.Leu1607=)
c.9336C= (p.Leu3112=)
5g.13753371G>TCA443535568DNAH5c.10734C>A (p.Leu3578=)
c.10689C>A (p.Leu3563=)
c.10842C>A (p.Leu3614=)
c.9747C>A (p.Leu3249=)
c.5931C>A (p.Leu1977=)
c.5484C>A (p.Leu1828=)
c.4821C>A (p.Leu1607=)
c.9336C>A (p.Leu3112=)
5g.13753372A>CCA359191517DNAH5c.10733T>G (p.Leu3578Arg)
c.10688T>G (p.Leu3563Arg)
c.10841T>G (p.Leu3614Arg)
c.9746T>G (p.Leu3249Arg)
c.5930T>G (p.Leu1977Arg)
c.5483T>G (p.Leu1828Arg)
c.4820T>G (p.Leu1607Arg)
c.9335T>G (p.Leu3112Arg)
5g.13753372A>GCA359191519DNAH5c.10733T>C (p.Leu3578Pro)
c.10688T>C (p.Leu3563Pro)
c.10841T>C (p.Leu3614Pro)
c.9746T>C (p.Leu3249Pro)
c.5930T>C (p.Leu1977Pro)
c.5483T>C (p.Leu1828Pro)
c.4820T>C (p.Leu1607Pro)
c.9335T>C (p.Leu3112Pro)
5g.13753372A>TCA359191521DNAH5c.10733T>A (p.Leu3578His)
c.10688T>A (p.Leu3563His)
c.10841T>A (p.Leu3614His)
c.9746T>A (p.Leu3249His)
c.5930T>A (p.Leu1977His)
c.5483T>A (p.Leu1828His)
c.4820T>A (p.Leu1607His)
c.9335T>A (p.Leu3112His)
5g.13753373G>ACA359191525DNAH5c.10732C>T (p.Leu3578Phe)
c.10687C>T (p.Leu3563Phe)
c.10840C>T (p.Leu3614Phe)
c.9745C>T (p.Leu3249Phe)
c.5929C>T (p.Leu1977Phe)
c.5482C>T (p.Leu1828Phe)
c.4819C>T (p.Leu1607Phe)
c.9334C>T (p.Leu3112Phe)
 dbSNP gnomAD v4
5g.13753373G>CCA359191526DNAH5c.10732C>G (p.Leu3578Val)
c.10687C>G (p.Leu3563Val)
c.10840C>G (p.Leu3614Val)
c.9745C>G (p.Leu3249Val)
c.5929C>G (p.Leu1977Val)
c.5482C>G (p.Leu1828Val)
c.4819C>G (p.Leu1607Val)
c.9334C>G (p.Leu3112Val)
5g.13753373G=CA1528423487DNAH5c.10732C= (p.Leu3578=)
c.10687C= (p.Leu3563=)
c.10840C= (p.Leu3614=)
c.9745C= (p.Leu3249=)
c.5929C= (p.Leu1977=)
c.5482C= (p.Leu1828=)
c.4819C= (p.Leu1607=)
c.9334C= (p.Leu3112=)
5g.13753373G>TCA359191523DNAH5c.10732C>A (p.Leu3578Ile)
c.10687C>A (p.Leu3563Ile)
c.10840C>A (p.Leu3614Ile)
c.9745C>A (p.Leu3249Ile)
c.5929C>A (p.Leu1977Ile)
c.5482C>A (p.Leu1828Ile)
c.4819C>A (p.Leu1607Ile)
c.9334C>A (p.Leu3112Ile)
5g.13753374G>ACA443535572DNAH5c.10731C>T (p.Asn3577=)
c.10686C>T (p.Asn3562=)
c.10839C>T (p.Asn3613=)
c.9744C>T (p.Asn3248=)
c.5928C>T (p.Asn1976=)
c.5481C>T (p.Asn1827=)
c.4818C>T (p.Asn1606=)
c.9333C>T (p.Asn3111=)
5g.13753374G>CCA3202146DNAH5c.10731C>G (p.Asn3577Lys)
c.10686C>G (p.Asn3562Lys)
c.10839C>G (p.Asn3613Lys)
c.9744C>G (p.Asn3248Lys)
c.5928C>G (p.Asn1976Lys)
c.5481C>G (p.Asn1827Lys)
c.4818C>G (p.Asn1606Lys)
c.9333C>G (p.Asn3111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753374G=CA1528423488DNAH5c.10731C= (p.Asn3577=)
c.10686C= (p.Asn3562=)
c.10839C= (p.Asn3613=)
c.9744C= (p.Asn3248=)
c.5928C= (p.Asn1976=)
c.5481C= (p.Asn1827=)
c.4818C= (p.Asn1606=)
c.9333C= (p.Asn3111=)
5g.13753374G>TCA10622661DNAH5c.10731C>A (p.Asn3577Lys)
c.10686C>A (p.Asn3562Lys)
c.10839C>A (p.Asn3613Lys)
c.9744C>A (p.Asn3248Lys)
c.5928C>A (p.Asn1976Lys)
c.5481C>A (p.Asn1827Lys)
c.4818C>A (p.Asn1606Lys)
c.9333C>A (p.Asn3111Lys)
 ClinVar dbSNP gnomAD v4
5g.13753375T>ACA359191530DNAH5c.10730A>T (p.Asn3577Ile)
c.10685A>T (p.Asn3562Ile)
c.10838A>T (p.Asn3613Ile)
c.9743A>T (p.Asn3248Ile)
c.5927A>T (p.Asn1976Ile)
c.5480A>T (p.Asn1827Ile)
c.4817A>T (p.Asn1606Ile)
c.9332A>T (p.Asn3111Ile)
5g.13753375T>CCA359191528DNAH5c.10730A>G (p.Asn3577Ser)
c.10685A>G (p.Asn3562Ser)
c.10838A>G (p.Asn3613Ser)
c.9743A>G (p.Asn3248Ser)
c.5927A>G (p.Asn1976Ser)
c.5480A>G (p.Asn1827Ser)
c.4817A>G (p.Asn1606Ser)
c.9332A>G (p.Asn3111Ser)
5g.13753375T>GCA359191531DNAH5c.10730A>C (p.Asn3577Thr)
c.10685A>C (p.Asn3562Thr)
c.10838A>C (p.Asn3613Thr)
c.9743A>C (p.Asn3248Thr)
c.5927A>C (p.Asn1976Thr)
c.5480A>C (p.Asn1827Thr)
c.4817A>C (p.Asn1606Thr)
c.9332A>C (p.Asn3111Thr)
5g.13753376T>ACA359191532DNAH5c.10729A>T (p.Asn3577Tyr)
c.10684A>T (p.Asn3562Tyr)
c.10837A>T (p.Asn3613Tyr)
c.9742A>T (p.Asn3248Tyr)
c.5926A>T (p.Asn1976Tyr)
c.5479A>T (p.Asn1827Tyr)
c.4816A>T (p.Asn1606Tyr)
c.9331A>T (p.Asn3111Tyr)
5g.13753376T>CCA359191534DNAH5c.10729A>G (p.Asn3577Asp)
c.10684A>G (p.Asn3562Asp)
c.10837A>G (p.Asn3613Asp)
c.9742A>G (p.Asn3248Asp)
c.5926A>G (p.Asn1976Asp)
c.5479A>G (p.Asn1827Asp)
c.4816A>G (p.Asn1606Asp)
c.9331A>G (p.Asn3111Asp)
5g.13753376T>GCA359191535DNAH5c.10729A>C (p.Asn3577His)
c.10684A>C (p.Asn3562His)
c.10837A>C (p.Asn3613His)
c.9742A>C (p.Asn3248His)
c.5926A>C (p.Asn1976His)
c.5479A>C (p.Asn1827His)
c.4816A>C (p.Asn1606His)
c.9331A>C (p.Asn3111His)
5g.13753377C>ACA359191537DNAH5c.10728G>T (p.Trp3576Cys)
c.10683G>T (p.Trp3561Cys)
c.10836G>T (p.Trp3612Cys)
c.9741G>T (p.Trp3247Cys)
c.5925G>T (p.Trp1975Cys)
c.5478G>T (p.Trp1826Cys)
c.4815G>T (p.Trp1605Cys)
c.9330G>T (p.Trp3110Cys)
5g.13753377C>GCA359191539DNAH5c.10728G>C (p.Trp3576Cys)
c.10683G>C (p.Trp3561Cys)
c.10836G>C (p.Trp3612Cys)
c.9741G>C (p.Trp3247Cys)
c.5925G>C (p.Trp1975Cys)
c.5478G>C (p.Trp1826Cys)
c.4815G>C (p.Trp1605Cys)
c.9330G>C (p.Trp3110Cys)
5g.13753377C>TCA359191541DNAH5c.10728G>A (p.Trp3576Ter)
c.10683G>A (p.Trp3561Ter)
c.10836G>A (p.Trp3612Ter)
c.9741G>A (p.Trp3247Ter)
c.5925G>A (p.Trp1975Ter)
c.5478G>A (p.Trp1826Ter)
c.4815G>A (p.Trp1605Ter)
c.9330G>A (p.Trp3110Ter)
5g.13753378C>ACA359191546DNAH5c.10727G>T (p.Trp3576Leu)
c.10682G>T (p.Trp3561Leu)
c.10835G>T (p.Trp3612Leu)
c.9740G>T (p.Trp3247Leu)
c.5924G>T (p.Trp1975Leu)
c.5477G>T (p.Trp1826Leu)
c.4814G>T (p.Trp1605Leu)
c.9329G>T (p.Trp3110Leu)
5g.13753378C>GCA359191543DNAH5c.10727G>C (p.Trp3576Ser)
c.10682G>C (p.Trp3561Ser)
c.10835G>C (p.Trp3612Ser)
c.9740G>C (p.Trp3247Ser)
c.5924G>C (p.Trp1975Ser)
c.5477G>C (p.Trp1826Ser)
c.4814G>C (p.Trp1605Ser)
c.9329G>C (p.Trp3110Ser)
5g.13753378C>TCA359191544DNAH5c.10727G>A (p.Trp3576Ter)
c.10682G>A (p.Trp3561Ter)
c.10835G>A (p.Trp3612Ter)
c.9740G>A (p.Trp3247Ter)
c.5924G>A (p.Trp1975Ter)
c.5477G>A (p.Trp1826Ter)
c.4814G>A (p.Trp1605Ter)
c.9329G>A (p.Trp3110Ter)
5g.13753379A>CCA359191548DNAH5c.10726T>G (p.Trp3576Gly)
c.10681T>G (p.Trp3561Gly)
c.10834T>G (p.Trp3612Gly)
c.9739T>G (p.Trp3247Gly)
c.5923T>G (p.Trp1975Gly)
c.5476T>G (p.Trp1826Gly)
c.4813T>G (p.Trp1605Gly)
c.9328T>G (p.Trp3110Gly)
5g.13753379A>GCA359191549DNAH5c.10726T>C (p.Trp3576Arg)
c.10681T>C (p.Trp3561Arg)
c.10834T>C (p.Trp3612Arg)
c.9739T>C (p.Trp3247Arg)
c.5923T>C (p.Trp1975Arg)
c.5476T>C (p.Trp1826Arg)
c.4813T>C (p.Trp1605Arg)
c.9328T>C (p.Trp3110Arg)
5g.13753379A>TCA359191550DNAH5c.10726T>A (p.Trp3576Arg)
c.10681T>A (p.Trp3561Arg)
c.10834T>A (p.Trp3612Arg)
c.9739T>A (p.Trp3247Arg)
c.5923T>A (p.Trp1975Arg)
c.5476T>A (p.Trp1826Arg)
c.4813T>A (p.Trp1605Arg)
c.9328T>A (p.Trp3110Arg)
5g.13753380T>ACA359191551DNAH5c.10725A>T (p.Glu3575Asp)
c.10680A>T (p.Glu3560Asp)
c.10833A>T (p.Glu3611Asp)
c.9738A>T (p.Glu3246Asp)
c.5922A>T (p.Glu1974Asp)
c.5475A>T (p.Glu1825Asp)
c.4812A>T (p.Glu1604Asp)
c.9327A>T (p.Glu3109Asp)
5g.13753380T>CCA443535578DNAH5c.10725A>G (p.Glu3575=)
c.10680A>G (p.Glu3560=)
c.10833A>G (p.Glu3611=)
c.9738A>G (p.Glu3246=)
c.5922A>G (p.Glu1974=)
c.5475A>G (p.Glu1825=)
c.4812A>G (p.Glu1604=)
c.9327A>G (p.Glu3109=)
5g.13753380T>GCA359191553DNAH5c.10725A>C (p.Glu3575Asp)
c.10680A>C (p.Glu3560Asp)
c.10833A>C (p.Glu3611Asp)
c.9738A>C (p.Glu3246Asp)
c.5922A>C (p.Glu1974Asp)
c.5475A>C (p.Glu1825Asp)
c.4812A>C (p.Glu1604Asp)
c.9327A>C (p.Glu3109Asp)
5g.13753381T>ACA359191555DNAH5c.10724A>T (p.Glu3575Val)
c.10679A>T (p.Glu3560Val)
c.10832A>T (p.Glu3611Val)
c.9737A>T (p.Glu3246Val)
c.5921A>T (p.Glu1974Val)
c.5474A>T (p.Glu1825Val)
c.4811A>T (p.Glu1604Val)
c.9326A>T (p.Glu3109Val)
5g.13753381T>CCA359191557DNAH5c.10724A>G (p.Glu3575Gly)
c.10679A>G (p.Glu3560Gly)
c.10832A>G (p.Glu3611Gly)
c.9737A>G (p.Glu3246Gly)
c.5921A>G (p.Glu1974Gly)
c.5474A>G (p.Glu1825Gly)
c.4811A>G (p.Glu1604Gly)
c.9326A>G (p.Glu3109Gly)
5g.13753381T>GCA3202147DNAH5c.10724A>C (p.Glu3575Ala)
c.10679A>C (p.Glu3560Ala)
c.10832A>C (p.Glu3611Ala)
c.9737A>C (p.Glu3246Ala)
c.5921A>C (p.Glu1974Ala)
c.5474A>C (p.Glu1825Ala)
c.4811A>C (p.Glu1604Ala)
c.9326A>C (p.Glu3109Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753381T=CA1528423489DNAH5c.10724A= (p.Glu3575=)
c.10679A= (p.Glu3560=)
c.10832A= (p.Glu3611=)
c.9737A= (p.Glu3246=)
c.5921A= (p.Glu1974=)
c.5474A= (p.Glu1825=)
c.4811A= (p.Glu1604=)
c.9326A= (p.Glu3109=)
5g.13753382C>ACA359191559DNAH5c.10723G>T (p.Glu3575Ter)
c.10678G>T (p.Glu3560Ter)
c.10831G>T (p.Glu3611Ter)
c.9736G>T (p.Glu3246Ter)
c.5920G>T (p.Glu1974Ter)
c.5473G>T (p.Glu1825Ter)
c.4810G>T (p.Glu1604Ter)
c.9325G>T (p.Glu3109Ter)
5g.13753382C>GCA359191561DNAH5c.10723G>C (p.Glu3575Gln)
c.10678G>C (p.Glu3560Gln)
c.10831G>C (p.Glu3611Gln)
c.9736G>C (p.Glu3246Gln)
c.5920G>C (p.Glu1974Gln)
c.5473G>C (p.Glu1825Gln)
c.4810G>C (p.Glu1604Gln)
c.9325G>C (p.Glu3109Gln)
5g.13753382C>TCA359191563DNAH5c.10723G>A (p.Glu3575Lys)
c.10678G>A (p.Glu3560Lys)
c.10831G>A (p.Glu3611Lys)
c.9736G>A (p.Glu3246Lys)
c.5920G>A (p.Glu1974Lys)
c.5473G>A (p.Glu1825Lys)
c.4810G>A (p.Glu1604Lys)
c.9325G>A (p.Glu3109Lys)
5g.13753383A>CCA359191565DNAH5c.10722T>G (p.Ser3574Arg)
c.10677T>G (p.Ser3559Arg)
c.10830T>G (p.Ser3610Arg)
c.9735T>G (p.Ser3245Arg)
c.5919T>G (p.Ser1973Arg)
c.5472T>G (p.Ser1824Arg)
c.4809T>G (p.Ser1603Arg)
c.9324T>G (p.Ser3108Arg)
5g.13753383A>GCA443535580DNAH5c.10722T>C (p.Ser3574=)
c.10677T>C (p.Ser3559=)
c.10830T>C (p.Ser3610=)
c.9735T>C (p.Ser3245=)
c.5919T>C (p.Ser1973=)
c.5472T>C (p.Ser1824=)
c.4809T>C (p.Ser1603=)
c.9324T>C (p.Ser3108=)
5g.13753383A>TCA359191566DNAH5c.10722T>A (p.Ser3574Arg)
c.10677T>A (p.Ser3559Arg)
c.10830T>A (p.Ser3610Arg)
c.9735T>A (p.Ser3245Arg)
c.5919T>A (p.Ser1973Arg)
c.5472T>A (p.Ser1824Arg)
c.4809T>A (p.Ser1603Arg)
c.9324T>A (p.Ser3108Arg)
 gnomAD v4
5g.13753384C>ACA359191568DNAH5c.10721G>T (p.Ser3574Ile)
c.10676G>T (p.Ser3559Ile)
c.10829G>T (p.Ser3610Ile)
c.9734G>T (p.Ser3245Ile)
c.5918G>T (p.Ser1973Ile)
c.5471G>T (p.Ser1824Ile)
c.4808G>T (p.Ser1603Ile)
c.9323G>T (p.Ser3108Ile)
5g.13753384C>GCA359191569DNAH5c.10721G>C (p.Ser3574Thr)
c.10676G>C (p.Ser3559Thr)
c.10829G>C (p.Ser3610Thr)
c.9734G>C (p.Ser3245Thr)
c.5918G>C (p.Ser1973Thr)
c.5471G>C (p.Ser1824Thr)
c.4808G>C (p.Ser1603Thr)
c.9323G>C (p.Ser3108Thr)
5g.13753384C>TCA359191571DNAH5c.10721G>A (p.Ser3574Asn)
c.10676G>A (p.Ser3559Asn)
c.10829G>A (p.Ser3610Asn)
c.9734G>A (p.Ser3245Asn)
c.5918G>A (p.Ser1973Asn)
c.5471G>A (p.Ser1824Asn)
c.4808G>A (p.Ser1603Asn)
c.9323G>A (p.Ser3108Asn)
5g.13753384_13753433delCA2527990983DNAH5c.10672_10721del (p.Gly3558Ter)
c.10627_10676del (p.Gly3543Ter)
c.10780_10829del (p.Gly3594Ter)
c.9685_9734del (p.Gly3229Ter)
c.5869_5918del (p.Gly1957Ter)
c.5422_5471del (p.Gly1808Ter)
c.4759_4808del (p.Gly1587Ter)
c.9274_9323del (p.Gly3092Ter)
5g.13753385T>ACA359191573DNAH5c.10720A>T (p.Ser3574Cys)
c.10675A>T (p.Ser3559Cys)
c.10828A>T (p.Ser3610Cys)
c.9733A>T (p.Ser3245Cys)
c.5917A>T (p.Ser1973Cys)
c.5470A>T (p.Ser1824Cys)
c.4807A>T (p.Ser1603Cys)
c.9322A>T (p.Ser3108Cys)
5g.13753385T>CCA3202148DNAH5c.10720A>G (p.Ser3574Gly)
c.10675A>G (p.Ser3559Gly)
c.10828A>G (p.Ser3610Gly)
c.9733A>G (p.Ser3245Gly)
c.5917A>G (p.Ser1973Gly)
c.5470A>G (p.Ser1824Gly)
c.4807A>G (p.Ser1603Gly)
c.9322A>G (p.Ser3108Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13753385T>GCA359191576DNAH5c.10720A>C (p.Ser3574Arg)
c.10675A>C (p.Ser3559Arg)
c.10828A>C (p.Ser3610Arg)
c.9733A>C (p.Ser3245Arg)
c.5917A>C (p.Ser1973Arg)
c.5470A>C (p.Ser1824Arg)
c.4807A>C (p.Ser1603Arg)
c.9322A>C (p.Ser3108Arg)
5g.13753385T=CA1528423491DNAH5c.10720A= (p.Ser3574=)
c.10675A= (p.Ser3559=)
c.10828A= (p.Ser3610=)
c.9733A= (p.Ser3245=)
c.5917A= (p.Ser1973=)
c.5470A= (p.Ser1824=)
c.4807A= (p.Ser1603=)
c.9322A= (p.Ser3108=)
5g.13753385_13753386delinsTACA1528423490DNAH5c.10719_10720delinsTA (p.Ile3573=)
c.10674_10675delinsTA (p.Ile3558=)
c.10827_10828delinsTA (p.Ile3609=)
c.9732_9733delinsTA (p.Ile3244=)
c.5916_5917delinsTA (p.Ile1972=)
c.5469_5470delinsTA (p.Ile1823=)
c.4806_4807delinsTA (p.Ile1602=)
c.9321_9322delinsTA (p.Ile3107=)
5g.13753386A>CCA359191579DNAH5c.10719T>G (p.Ile3573Met)
c.10674T>G (p.Ile3558Met)
c.10827T>G (p.Ile3609Met)
c.9732T>G (p.Ile3244Met)
c.5916T>G (p.Ile1972Met)
c.5469T>G (p.Ile1823Met)
c.4806T>G (p.Ile1602Met)
c.9321T>G (p.Ile3107Met)
5g.13753386A>GCA443535587DNAH5c.10719T>C (p.Ile3573=)
c.10674T>C (p.Ile3558=)
c.10827T>C (p.Ile3609=)
c.9732T>C (p.Ile3244=)
c.5916T>C (p.Ile1972=)
c.5469T>C (p.Ile1823=)
c.4806T>C (p.Ile1602=)
c.9321T>C (p.Ile3107=)
5g.13753386A>TCA443535588DNAH5c.10719T>A (p.Ile3573=)
c.10674T>A (p.Ile3558=)
c.10827T>A (p.Ile3609=)
c.9732T>A (p.Ile3244=)
c.5916T>A (p.Ile1972=)
c.5469T>A (p.Ile1823=)
c.4806T>A (p.Ile1602=)
c.9321T>A (p.Ile3107=)
5g.13753387delCA3202149DNAH5c.10719del (p.Ser3574ValfsTer?)
c.10674del (p.Ser3559ValfsTer?)
c.10827del (p.Ser3610ValfsTer?)
c.9732del (p.Ser3245ValfsTer?)
c.5916del (p.Ser1973ValfsTer?)
c.5469del (p.Ser1824ValfsTer?)
c.4806del (p.Ser1603ValfsTer?)
c.9321del (p.Ser3108ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13753387A=CA1528423493DNAH5c.10718T= (p.Ile3573=)
c.10673T= (p.Ile3558=)
c.10826T= (p.Ile3609=)
c.9731T= (p.Ile3244=)
c.5915T= (p.Ile1972=)
c.5468T= (p.Ile1823=)
c.4805T= (p.Ile1602=)
c.9320T= (p.Ile3107=)
5g.13753387A>CCA359191581DNAH5c.10718T>G (p.Ile3573Ser)
c.10673T>G (p.Ile3558Ser)
c.10826T>G (p.Ile3609Ser)
c.9731T>G (p.Ile3244Ser)
c.5915T>G (p.Ile1972Ser)
c.5468T>G (p.Ile1823Ser)
c.4805T>G (p.Ile1602Ser)
c.9320T>G (p.Ile3107Ser)
 dbSNP
5g.13753387A>GCA359191584DNAH5c.10718T>C (p.Ile3573Thr)
c.10673T>C (p.Ile3558Thr)
c.10826T>C (p.Ile3609Thr)
c.9731T>C (p.Ile3244Thr)
c.5915T>C (p.Ile1972Thr)
c.5468T>C (p.Ile1823Thr)
c.4805T>C (p.Ile1602Thr)
c.9320T>C (p.Ile3107Thr)
 COSMIC
5g.13753387A>TCA359191590DNAH5c.10718T>A (p.Ile3573Asn)
c.10673T>A (p.Ile3558Asn)
c.10826T>A (p.Ile3609Asn)
c.9731T>A (p.Ile3244Asn)
c.5915T>A (p.Ile1972Asn)
c.5468T>A (p.Ile1823Asn)
c.4805T>A (p.Ile1602Asn)
c.9320T>A (p.Ile3107Asn)
5g.13753387_13753390delinsATAGCA1528423492DNAH5c.10715_10718delinsCTAT (p.Thr3572=)
c.10670_10673delinsCTAT (p.Thr3557=)
c.10823_10826delinsCTAT (p.Thr3608=)
c.9728_9731delinsCTAT (p.Thr3243=)
c.5912_5915delinsCTAT (p.Thr1971=)
c.5465_5468delinsCTAT (p.Thr1822=)
c.4802_4805delinsCTAT (p.Thr1601=)
c.9317_9320delinsCTAT (p.Thr3106=)
5g.13753388T>ACA359191595DNAH5c.10717A>T (p.Ile3573Phe)
c.10672A>T (p.Ile3558Phe)
c.10825A>T (p.Ile3609Phe)
c.9730A>T (p.Ile3244Phe)
c.5914A>T (p.Ile1972Phe)
c.5467A>T (p.Ile1823Phe)
c.4804A>T (p.Ile1602Phe)
c.9319A>T (p.Ile3107Phe)
5g.13753388T>CCA359191598DNAH5c.10717A>G (p.Ile3573Val)
c.10672A>G (p.Ile3558Val)
c.10825A>G (p.Ile3609Val)
c.9730A>G (p.Ile3244Val)
c.5914A>G (p.Ile1972Val)
c.5467A>G (p.Ile1823Val)
c.4804A>G (p.Ile1602Val)
c.9319A>G (p.Ile3107Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13753388T>GCA359191600DNAH5c.10717A>C (p.Ile3573Leu)
c.10672A>C (p.Ile3558Leu)
c.10825A>C (p.Ile3609Leu)
c.9730A>C (p.Ile3244Leu)
c.5914A>C (p.Ile1972Leu)
c.5467A>C (p.Ile1823Leu)
c.4804A>C (p.Ile1602Leu)
c.9319A>C (p.Ile3107Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.13753388T=CA1528423494DNAH5c.10717A= (p.Ile3573=)
c.10672A= (p.Ile3558=)
c.10825A= (p.Ile3609=)
c.9730A= (p.Ile3244=)
c.5914A= (p.Ile1972=)
c.5467A= (p.Ile1823=)
c.4804A= (p.Ile1602=)
c.9319A= (p.Ile3107=)
5g.13753391_13753393delCA3202150DNAH5c.10715_10717del (p.Thr3572del)
c.10670_10672del (p.Thr3557del)
c.10823_10825del (p.Thr3608del)
c.9728_9730del (p.Thr3243del)
c.5912_5914del (p.Thr1971del)
c.5465_5467del (p.Thr1822del)
c.4802_4804del (p.Thr1601del)
c.9317_9319del (p.Thr3106del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13753389A>CCA443535592DNAH5c.10716T>G (p.Thr3572=)
c.10671T>G (p.Thr3557=)
c.10824T>G (p.Thr3608=)
c.9729T>G (p.Thr3243=)
c.5913T>G (p.Thr1971=)
c.5466T>G (p.Thr1822=)
c.4803T>G (p.Thr1601=)
c.9318T>G (p.Thr3106=)
5g.13753389A>GCA443535593DNAH5c.10716T>C (p.Thr3572=)
c.10671T>C (p.Thr3557=)
c.10824T>C (p.Thr3608=)
c.9729T>C (p.Thr3243=)
c.5913T>C (p.Thr1971=)
c.5466T>C (p.Thr1822=)
c.4803T>C (p.Thr1601=)
c.9318T>C (p.Thr3106=)
5g.13753389A>TCA443535594DNAH5c.10716T>A (p.Thr3572=)
c.10671T>A (p.Thr3557=)
c.10824T>A (p.Thr3608=)
c.9729T>A (p.Thr3243=)
c.5913T>A (p.Thr1971=)
c.5466T>A (p.Thr1822=)
c.4803T>A (p.Thr1601=)
c.9318T>A (p.Thr3106=)
5g.13753390G>ACA359191607DNAH5c.10715C>T (p.Thr3572Ile)
c.10670C>T (p.Thr3557Ile)
c.10823C>T (p.Thr3608Ile)
c.9728C>T (p.Thr3243Ile)
c.5912C>T (p.Thr1971Ile)
c.5465C>T (p.Thr1822Ile)
c.4802C>T (p.Thr1601Ile)
c.9317C>T (p.Thr3106Ile)
 gnomAD v4
5g.13753390G>CCA359191608DNAH5c.10715C>G (p.Thr3572Ser)
c.10670C>G (p.Thr3557Ser)
c.10823C>G (p.Thr3608Ser)
c.9728C>G (p.Thr3243Ser)
c.5912C>G (p.Thr1971Ser)
c.5465C>G (p.Thr1822Ser)
c.4802C>G (p.Thr1601Ser)
c.9317C>G (p.Thr3106Ser)
 gnomAD v4
5g.13753390G>TCA359191615DNAH5c.10715C>A (p.Thr3572Asn)
c.10670C>A (p.Thr3557Asn)
c.10823C>A (p.Thr3608Asn)
c.9728C>A (p.Thr3243Asn)
c.5912C>A (p.Thr1971Asn)
c.5465C>A (p.Thr1822Asn)
c.4802C>A (p.Thr1601Asn)
c.9317C>A (p.Thr3106Asn)
5g.13753391T>ACA359191617DNAH5c.10714A>T (p.Thr3572Ser)
c.10669A>T (p.Thr3557Ser)
c.10822A>T (p.Thr3608Ser)
c.9727A>T (p.Thr3243Ser)
c.5911A>T (p.Thr1971Ser)
c.5464A>T (p.Thr1822Ser)
c.4801A>T (p.Thr1601Ser)
c.9316A>T (p.Thr3106Ser)
 dbSNP
5g.13753391T>CCA359191619DNAH5c.10714A>G (p.Thr3572Ala)
c.10669A>G (p.Thr3557Ala)
c.10822A>G (p.Thr3608Ala)
c.9727A>G (p.Thr3243Ala)
c.5911A>G (p.Thr1971Ala)
c.5464A>G (p.Thr1822Ala)
c.4801A>G (p.Thr1601Ala)
c.9316A>G (p.Thr3106Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.13753391T>GCA359191621DNAH5c.10714A>C (p.Thr3572Pro)
c.10669A>C (p.Thr3557Pro)
c.10822A>C (p.Thr3608Pro)
c.9727A>C (p.Thr3243Pro)
c.5911A>C (p.Thr1971Pro)
c.5464A>C (p.Thr1822Pro)
c.4801A>C (p.Thr1601Pro)
c.9316A>C (p.Thr3106Pro)
 gnomAD v4
5g.13753391T=CA1528423495DNAH5c.10714A= (p.Thr3572=)
c.10669A= (p.Thr3557=)
c.10822A= (p.Thr3608=)
c.9727A= (p.Thr3243=)
c.5911A= (p.Thr1971=)
c.5464A= (p.Thr1822=)
c.4801A= (p.Thr1601=)
c.9316A= (p.Thr3106=)

Number of alleles fetched