Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13844852_13844870dupCA2580072029DNAH5c.5238_5256dup (p.Lys1753Ter)
c.5193_5211dup (p.Lys1738Ter)
n.5445_5463dup
c.5346_5364dup (p.Lys1789Ter)
c.4251_4269dup (p.Lys1424Ter)
c.435_453dup (p.Lys152Ter)
c.22-2966_22-2948dup (n.22-2966_22-2948dup)
c.3840_3858dup (p.Lys1287Ter)
n.5363_5381dup
 ClinVar
5g.13844867G>ACA443257724DNAH5c.5241C>T (p.Asp1747=)
c.5196C>T (p.Asp1732=)
n.5448C>T
c.5349C>T (p.Asp1783=)
c.4254C>T (p.Asp1418=)
c.438C>T (p.Asp146=)
c.22-2963C>T (n.22-2963C>T)
c.3843C>T (p.Asp1281=)
n.5366C>T
5g.13844867G>CCA359213850DNAH5c.5241C>G (p.Asp1747Glu)
c.5196C>G (p.Asp1732Glu)
n.5448C>G
c.5349C>G (p.Asp1783Glu)
c.4254C>G (p.Asp1418Glu)
c.438C>G (p.Asp146Glu)
c.22-2963C>G (n.22-2963C>G)
c.3843C>G (p.Asp1281Glu)
n.5366C>G
5g.13844867G>TCA359213851DNAH5c.5241C>A (p.Asp1747Glu)
c.5196C>A (p.Asp1732Glu)
n.5448C>A
c.5349C>A (p.Asp1783Glu)
c.4254C>A (p.Asp1418Glu)
c.438C>A (p.Asp146Glu)
c.22-2963C>A (n.22-2963C>A)
c.3843C>A (p.Asp1281Glu)
n.5366C>A
5g.13844868T>ACA359213852DNAH5c.5240A>T (p.Asp1747Val)
c.5195A>T (p.Asp1732Val)
n.5447A>T
c.5348A>T (p.Asp1783Val)
c.4253A>T (p.Asp1418Val)
c.437A>T (p.Asp146Val)
c.22-2964A>T (n.22-2964A>T)
c.3842A>T (p.Asp1281Val)
n.5365A>T
5g.13844868T>CCA359213854DNAH5c.5240A>G (p.Asp1747Gly)
c.5195A>G (p.Asp1732Gly)
n.5447A>G
c.5348A>G (p.Asp1783Gly)
c.4253A>G (p.Asp1418Gly)
c.437A>G (p.Asp146Gly)
c.22-2964A>G (n.22-2964A>G)
c.3842A>G (p.Asp1281Gly)
n.5365A>G
5g.13844868T>GCA359213858DNAH5c.5240A>C (p.Asp1747Ala)
c.5195A>C (p.Asp1732Ala)
n.5447A>C
c.5348A>C (p.Asp1783Ala)
c.4253A>C (p.Asp1418Ala)
c.437A>C (p.Asp146Ala)
c.22-2964A>C (n.22-2964A>C)
c.3842A>C (p.Asp1281Ala)
n.5365A>C
5g.13844869C>ACA359213861DNAH5c.5239G>T (p.Asp1747Tyr)
c.5194G>T (p.Asp1732Tyr)
n.5446G>T
c.5347G>T (p.Asp1783Tyr)
c.4252G>T (p.Asp1418Tyr)
c.436G>T (p.Asp146Tyr)
c.22-2965G>T (n.22-2965G>T)
c.3841G>T (p.Asp1281Tyr)
n.5364G>T
5g.13844869C=CA1528465025DNAH5c.5239G= (p.Asp1747=)
c.5194G= (p.Asp1732=)
n.5446G=
c.5347G= (p.Asp1783=)
c.4252G= (p.Asp1418=)
c.436G= (p.Asp146=)
c.22-2965G= (n.22-2965G=)
c.3841G= (p.Asp1281=)
n.5364G=
5g.13844869C>GCA113954553DNAH5c.5239G>C (p.Asp1747His)
c.5194G>C (p.Asp1732His)
n.5446G>C
c.5347G>C (p.Asp1783His)
c.4252G>C (p.Asp1418His)
c.436G>C (p.Asp146His)
c.22-2965G>C (n.22-2965G>C)
c.3841G>C (p.Asp1281His)
n.5364G>C
 dbSNP gnomAD v4
5g.13844869C>TCA359213862DNAH5c.5239G>A (p.Asp1747Asn)
c.5194G>A (p.Asp1732Asn)
n.5446G>A
c.5347G>A (p.Asp1783Asn)
c.4252G>A (p.Asp1418Asn)
c.436G>A (p.Asp146Asn)
c.22-2965G>A (n.22-2965G>A)
c.3841G>A (p.Asp1281Asn)
n.5364G>A
5g.13844870A>CCA359213863DNAH5c.5238T>G (p.Phe1746Leu)
c.5193T>G (p.Phe1731Leu)
n.5445T>G
c.5346T>G (p.Phe1782Leu)
c.4251T>G (p.Phe1417Leu)
c.435T>G (p.Phe145Leu)
c.22-2966T>G (n.22-2966T>G)
c.3840T>G (p.Phe1280Leu)
n.5363T>G
5g.13844870A>GCA443257730DNAH5c.5238T>C (p.Phe1746=)
c.5193T>C (p.Phe1731=)
n.5445T>C
c.5346T>C (p.Phe1782=)
c.4251T>C (p.Phe1417=)
c.435T>C (p.Phe145=)
c.22-2966T>C (n.22-2966T>C)
c.3840T>C (p.Phe1280=)
n.5363T>C
5g.13844870A>TCA359213864DNAH5c.5238T>A (p.Phe1746Leu)
c.5193T>A (p.Phe1731Leu)
n.5445T>A
c.5346T>A (p.Phe1782Leu)
c.4251T>A (p.Phe1417Leu)
c.435T>A (p.Phe145Leu)
c.22-2966T>A (n.22-2966T>A)
c.3840T>A (p.Phe1280Leu)
n.5363T>A
5g.13844871A>CCA359213865DNAH5c.5237T>G (p.Phe1746Cys)
c.5192T>G (p.Phe1731Cys)
n.5444T>G
c.5345T>G (p.Phe1782Cys)
c.4250T>G (p.Phe1417Cys)
c.434T>G (p.Phe145Cys)
c.22-2967T>G (n.22-2967T>G)
c.3839T>G (p.Phe1280Cys)
n.5362T>G
5g.13844871A>GCA359213868DNAH5c.5237T>C (p.Phe1746Ser)
c.5192T>C (p.Phe1731Ser)
n.5444T>C
c.5345T>C (p.Phe1782Ser)
c.4250T>C (p.Phe1417Ser)
c.434T>C (p.Phe145Ser)
c.22-2967T>C (n.22-2967T>C)
c.3839T>C (p.Phe1280Ser)
n.5362T>C
5g.13844871A>TCA359213869DNAH5c.5237T>A (p.Phe1746Tyr)
c.5192T>A (p.Phe1731Tyr)
n.5444T>A
c.5345T>A (p.Phe1782Tyr)
c.4250T>A (p.Phe1417Tyr)
c.434T>A (p.Phe145Tyr)
c.22-2967T>A (n.22-2967T>A)
c.3839T>A (p.Phe1280Tyr)
n.5362T>A
5g.13844872A>CCA359213871DNAH5c.5236T>G (p.Phe1746Val)
c.5191T>G (p.Phe1731Val)
n.5443T>G
c.5344T>G (p.Phe1782Val)
c.4249T>G (p.Phe1417Val)
c.433T>G (p.Phe145Val)
c.22-2968T>G (n.22-2968T>G)
c.3838T>G (p.Phe1280Val)
n.5361T>G
5g.13844872A>GCA359213872DNAH5c.5236T>C (p.Phe1746Leu)
c.5191T>C (p.Phe1731Leu)
n.5443T>C
c.5344T>C (p.Phe1782Leu)
c.4249T>C (p.Phe1417Leu)
c.433T>C (p.Phe145Leu)
c.22-2968T>C (n.22-2968T>C)
c.3838T>C (p.Phe1280Leu)
n.5361T>C
5g.13844872A>TCA359213873DNAH5c.5236T>A (p.Phe1746Ile)
c.5191T>A (p.Phe1731Ile)
n.5443T>A
c.5344T>A (p.Phe1782Ile)
c.4249T>A (p.Phe1417Ile)
c.433T>A (p.Phe145Ile)
c.22-2968T>A (n.22-2968T>A)
c.3838T>A (p.Phe1280Ile)
n.5361T>A
5g.13844873C>ACA443257737DNAH5c.5235G>T (p.Val1745=)
c.5190G>T (p.Val1730=)
n.5442G>T
c.5343G>T (p.Val1781=)
c.4248G>T (p.Val1416=)
c.432G>T (p.Val144=)
c.22-2969G>T (n.22-2969G>T)
c.3837G>T (p.Val1279=)
n.5360G>T
5g.13844873C>GCA443257739DNAH5c.5235G>C (p.Val1745=)
c.5190G>C (p.Val1730=)
n.5442G>C
c.5343G>C (p.Val1781=)
c.4248G>C (p.Val1416=)
c.432G>C (p.Val144=)
c.22-2969G>C (n.22-2969G>C)
c.3837G>C (p.Val1279=)
n.5360G>C
 ClinVar gnomAD v4
5g.13844873C>TCA443257740DNAH5c.5235G>A (p.Val1745=)
c.5190G>A (p.Val1730=)
n.5442G>A
c.5343G>A (p.Val1781=)
c.4248G>A (p.Val1416=)
c.432G>A (p.Val144=)
c.22-2969G>A (n.22-2969G>A)
c.3837G>A (p.Val1279=)
n.5360G>A
5g.13844874A>CCA359213874DNAH5c.5234T>G (p.Val1745Gly)
c.5189T>G (p.Val1730Gly)
n.5441T>G
c.5342T>G (p.Val1781Gly)
c.4247T>G (p.Val1416Gly)
c.431T>G (p.Val144Gly)
c.22-2970T>G (n.22-2970T>G)
c.3836T>G (p.Val1279Gly)
n.5359T>G
5g.13844874A>GCA359213875DNAH5c.5234T>C (p.Val1745Ala)
c.5189T>C (p.Val1730Ala)
n.5441T>C
c.5342T>C (p.Val1781Ala)
c.4247T>C (p.Val1416Ala)
c.431T>C (p.Val144Ala)
c.22-2970T>C (n.22-2970T>C)
c.3836T>C (p.Val1279Ala)
n.5359T>C
5g.13844874A>TCA359213877DNAH5c.5234T>A (p.Val1745Glu)
c.5189T>A (p.Val1730Glu)
n.5441T>A
c.5342T>A (p.Val1781Glu)
c.4247T>A (p.Val1416Glu)
c.431T>A (p.Val144Glu)
c.22-2970T>A (n.22-2970T>A)
c.3836T>A (p.Val1279Glu)
n.5359T>A
5g.13844875C>ACA359213881DNAH5c.5233G>T (p.Val1745Leu)
c.5188G>T (p.Val1730Leu)
n.5440G>T
c.5341G>T (p.Val1781Leu)
c.4246G>T (p.Val1416Leu)
c.430G>T (p.Val144Leu)
c.22-2971G>T (n.22-2971G>T)
c.3835G>T (p.Val1279Leu)
n.5358G>T
5g.13844875C>GCA359213883DNAH5c.5233G>C (p.Val1745Leu)
c.5188G>C (p.Val1730Leu)
n.5440G>C
c.5341G>C (p.Val1781Leu)
c.4246G>C (p.Val1416Leu)
c.430G>C (p.Val144Leu)
c.22-2971G>C (n.22-2971G>C)
c.3835G>C (p.Val1279Leu)
n.5358G>C
5g.13844875C>TCA359213886DNAH5c.5233G>A (p.Val1745Met)
c.5188G>A (p.Val1730Met)
n.5440G>A
c.5341G>A (p.Val1781Met)
c.4246G>A (p.Val1416Met)
c.430G>A (p.Val144Met)
c.22-2971G>A (n.22-2971G>A)
c.3835G>A (p.Val1279Met)
n.5358G>A
5g.13844876A>CCA359213897DNAH5c.5232T>G (p.Asn1744Lys)
c.5187T>G (p.Asn1729Lys)
n.5439T>G
c.5340T>G (p.Asn1780Lys)
c.4245T>G (p.Asn1415Lys)
c.429T>G (p.Asn143Lys)
c.22-2972T>G (n.22-2972T>G)
c.3834T>G (p.Asn1278Lys)
n.5357T>G
5g.13844876A>GCA443257746DNAH5c.5232T>C (p.Asn1744=)
c.5187T>C (p.Asn1729=)
n.5439T>C
c.5340T>C (p.Asn1780=)
c.4245T>C (p.Asn1415=)
c.429T>C (p.Asn143=)
c.22-2972T>C (n.22-2972T>C)
c.3834T>C (p.Asn1278=)
n.5357T>C
 dbSNP
5g.13844876A>TCA359213899DNAH5c.5232T>A (p.Asn1744Lys)
c.5187T>A (p.Asn1729Lys)
n.5439T>A
c.5340T>A (p.Asn1780Lys)
c.4245T>A (p.Asn1415Lys)
c.429T>A (p.Asn143Lys)
c.22-2972T>A (n.22-2972T>A)
c.3834T>A (p.Asn1278Lys)
n.5357T>A
5g.13844877T>ACA359213902DNAH5c.5231A>T (p.Asn1744Ile)
c.5186A>T (p.Asn1729Ile)
n.5438A>T
c.5339A>T (p.Asn1780Ile)
c.4244A>T (p.Asn1415Ile)
c.428A>T (p.Asn143Ile)
c.22-2973A>T (n.22-2973A>T)
c.3833A>T (p.Asn1278Ile)
n.5356A>T
5g.13844877T>CCA359213911DNAH5c.5231A>G (p.Asn1744Ser)
c.5186A>G (p.Asn1729Ser)
n.5438A>G
c.5339A>G (p.Asn1780Ser)
c.4244A>G (p.Asn1415Ser)
c.428A>G (p.Asn143Ser)
c.22-2973A>G (n.22-2973A>G)
c.3833A>G (p.Asn1278Ser)
n.5356A>G
 dbSNP gnomAD v4
5g.13844877T>GCA359213904DNAH5c.5231A>C (p.Asn1744Thr)
c.5186A>C (p.Asn1729Thr)
n.5438A>C
c.5339A>C (p.Asn1780Thr)
c.4244A>C (p.Asn1415Thr)
c.428A>C (p.Asn143Thr)
c.22-2973A>C (n.22-2973A>C)
c.3833A>C (p.Asn1278Thr)
n.5356A>C
5g.13844877T=CA1528465026DNAH5c.5231A= (p.Asn1744=)
c.5186A= (p.Asn1729=)
n.5438A=
c.5339A= (p.Asn1780=)
c.4244A= (p.Asn1415=)
c.428A= (p.Asn143=)
c.22-2973A= (n.22-2973A=)
c.3833A= (p.Asn1278=)
n.5356A=
5g.13844878T>ACA359213917DNAH5c.5230A>T (p.Asn1744Tyr)
c.5185A>T (p.Asn1729Tyr)
n.5437A>T
c.5338A>T (p.Asn1780Tyr)
c.4243A>T (p.Asn1415Tyr)
c.427A>T (p.Asn143Tyr)
c.22-2974A>T (n.22-2974A>T)
c.3832A>T (p.Asn1278Tyr)
n.5355A>T
5g.13844878T>CCA359213920DNAH5c.5230A>G (p.Asn1744Asp)
c.5185A>G (p.Asn1729Asp)
n.5437A>G
c.5338A>G (p.Asn1780Asp)
c.4243A>G (p.Asn1415Asp)
c.427A>G (p.Asn143Asp)
c.22-2974A>G (n.22-2974A>G)
c.3832A>G (p.Asn1278Asp)
n.5355A>G
5g.13844878T>GCA359213923DNAH5c.5230A>C (p.Asn1744His)
c.5185A>C (p.Asn1729His)
n.5437A>C
c.5338A>C (p.Asn1780His)
c.4243A>C (p.Asn1415His)
c.427A>C (p.Asn143His)
c.22-2974A>C (n.22-2974A>C)
c.3832A>C (p.Asn1278His)
n.5355A>C
5g.13844879C>ACA443257757DNAH5c.5229G>T (p.Leu1743=)
c.5184G>T (p.Leu1728=)
n.5436G>T
c.5337G>T (p.Leu1779=)
c.4242G>T (p.Leu1414=)
c.426G>T (p.Leu142=)
c.22-2975G>T (n.22-2975G>T)
c.3831G>T (p.Leu1277=)
n.5354G>T
5g.13844879C>GCA443257760DNAH5c.5229G>C (p.Leu1743=)
c.5184G>C (p.Leu1728=)
n.5436G>C
c.5337G>C (p.Leu1779=)
c.4242G>C (p.Leu1414=)
c.426G>C (p.Leu142=)
c.22-2975G>C (n.22-2975G>C)
c.3831G>C (p.Leu1277=)
n.5354G>C
5g.13844879C>TCA443257763DNAH5c.5229G>A (p.Leu1743=)
c.5184G>A (p.Leu1728=)
n.5436G>A
c.5337G>A (p.Leu1779=)
c.4242G>A (p.Leu1414=)
c.426G>A (p.Leu142=)
c.22-2975G>A (n.22-2975G>A)
c.3831G>A (p.Leu1277=)
n.5354G>A
5g.13844880A>CCA359213924DNAH5c.5228T>G (p.Leu1743Arg)
c.5183T>G (p.Leu1728Arg)
n.5435T>G
c.5336T>G (p.Leu1779Arg)
c.4241T>G (p.Leu1414Arg)
c.425T>G (p.Leu142Arg)
c.22-2976T>G (n.22-2976T>G)
c.3830T>G (p.Leu1277Arg)
n.5353T>G
5g.13844880A>GCA359213938DNAH5c.5228T>C (p.Leu1743Pro)
c.5183T>C (p.Leu1728Pro)
n.5435T>C
c.5336T>C (p.Leu1779Pro)
c.4241T>C (p.Leu1414Pro)
c.425T>C (p.Leu142Pro)
c.22-2976T>C (n.22-2976T>C)
c.3830T>C (p.Leu1277Pro)
n.5353T>C
 gnomAD v4
5g.13844880A>TCA359213939DNAH5c.5228T>A (p.Leu1743Gln)
c.5183T>A (p.Leu1728Gln)
n.5435T>A
c.5336T>A (p.Leu1779Gln)
c.4241T>A (p.Leu1414Gln)
c.425T>A (p.Leu142Gln)
c.22-2976T>A (n.22-2976T>A)
c.3830T>A (p.Leu1277Gln)
n.5353T>A
5g.13844881G>ACA443257767DNAH5c.5227C>T (p.Leu1743=)
c.5182C>T (p.Leu1728=)
n.5434C>T
c.5335C>T (p.Leu1779=)
c.4240C>T (p.Leu1414=)
c.424C>T (p.Leu142=)
c.22-2977C>T (n.22-2977C>T)
c.3829C>T (p.Leu1277=)
n.5352C>T
 gnomAD v4
5g.13844881G>CCA359213942DNAH5c.5227C>G (p.Leu1743Val)
c.5182C>G (p.Leu1728Val)
n.5434C>G
c.5335C>G (p.Leu1779Val)
c.4240C>G (p.Leu1414Val)
c.424C>G (p.Leu142Val)
c.22-2977C>G (n.22-2977C>G)
c.3829C>G (p.Leu1277Val)
n.5352C>G
5g.13844881G>TCA359213944DNAH5c.5227C>A (p.Leu1743Met)
c.5182C>A (p.Leu1728Met)
n.5434C>A
c.5335C>A (p.Leu1779Met)
c.4240C>A (p.Leu1414Met)
c.424C>A (p.Leu142Met)
c.22-2977C>A (n.22-2977C>A)
c.3829C>A (p.Leu1277Met)
n.5352C>A
5g.13844882C>ACA359213946DNAH5c.5226G>T (p.Leu1742Phe)
c.5181G>T (p.Leu1727Phe)
n.5433G>T
c.5334G>T (p.Leu1778Phe)
c.4239G>T (p.Leu1413Phe)
c.423G>T (p.Leu141Phe)
c.22-2978G>T (n.22-2978G>T)
c.3828G>T (p.Leu1276Phe)
n.5351G>T
5g.13844882C=CA1528465027DNAH5c.5226G= (p.Leu1742=)
c.5181G= (p.Leu1727=)
n.5433G=
c.5334G= (p.Leu1778=)
c.4239G= (p.Leu1413=)
c.423G= (p.Leu141=)
c.22-2978G= (n.22-2978G=)
c.3828G= (p.Leu1276=)
n.5351G=
5g.13844882C>GCA359213947DNAH5c.5226G>C (p.Leu1742Phe)
c.5181G>C (p.Leu1727Phe)
n.5433G>C
c.5334G>C (p.Leu1778Phe)
c.4239G>C (p.Leu1413Phe)
c.423G>C (p.Leu141Phe)
c.22-2978G>C (n.22-2978G>C)
c.3828G>C (p.Leu1276Phe)
n.5351G>C
5g.13844882C>TCA3203758DNAH5c.5226G>A (p.Leu1742=)
c.5181G>A (p.Leu1727=)
n.5433G>A
c.5334G>A (p.Leu1778=)
c.4239G>A (p.Leu1413=)
c.423G>A (p.Leu141=)
c.22-2978G>A (n.22-2978G>A)
c.3828G>A (p.Leu1276=)
n.5351G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844883A>CCA359213956DNAH5c.5225T>G (p.Leu1742Trp)
c.5180T>G (p.Leu1727Trp)
n.5432T>G
c.5333T>G (p.Leu1778Trp)
c.4238T>G (p.Leu1413Trp)
c.422T>G (p.Leu141Trp)
c.22-2979T>G (n.22-2979T>G)
c.3827T>G (p.Leu1276Trp)
n.5350T>G
5g.13844883A>GCA359213954DNAH5c.5225T>C (p.Leu1742Ser)
c.5180T>C (p.Leu1727Ser)
n.5432T>C
c.5333T>C (p.Leu1778Ser)
c.4238T>C (p.Leu1413Ser)
c.422T>C (p.Leu141Ser)
c.22-2979T>C (n.22-2979T>C)
c.3827T>C (p.Leu1276Ser)
n.5350T>C
5g.13844883A>TCA359213955DNAH5c.5225T>A (p.Leu1742Ter)
c.5180T>A (p.Leu1727Ter)
n.5432T>A
c.5333T>A (p.Leu1778Ter)
c.4238T>A (p.Leu1413Ter)
c.422T>A (p.Leu141Ter)
c.22-2979T>A (n.22-2979T>A)
c.3827T>A (p.Leu1276Ter)
n.5350T>A
5g.13844884A=CA1528465028DNAH5c.5224T= (p.Leu1742=)
c.5179T= (p.Leu1727=)
n.5431T=
c.5332T= (p.Leu1778=)
c.4237T= (p.Leu1413=)
c.421T= (p.Leu141=)
c.22-2980T= (n.22-2980T=)
c.3826T= (p.Leu1276=)
n.5349T=
5g.13844884A>CCA359213957DNAH5c.5224T>G (p.Leu1742Val)
c.5179T>G (p.Leu1727Val)
n.5431T>G
c.5332T>G (p.Leu1778Val)
c.4237T>G (p.Leu1413Val)
c.421T>G (p.Leu141Val)
c.22-2980T>G (n.22-2980T>G)
c.3826T>G (p.Leu1276Val)
n.5349T>G
5g.13844884A>GCA3203759DNAH5c.5224T>C (p.Leu1742=)
c.5179T>C (p.Leu1727=)
n.5431T>C
c.5332T>C (p.Leu1778=)
c.4237T>C (p.Leu1413=)
c.421T>C (p.Leu141=)
c.22-2980T>C (n.22-2980T>C)
c.3826T>C (p.Leu1276=)
n.5349T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844884A>TCA359213959DNAH5c.5224T>A (p.Leu1742Met)
c.5179T>A (p.Leu1727Met)
n.5431T>A
c.5332T>A (p.Leu1778Met)
c.4237T>A (p.Leu1413Met)
c.421T>A (p.Leu141Met)
c.22-2980T>A (n.22-2980T>A)
c.3826T>A (p.Leu1276Met)
n.5349T>A
5g.13844885A>CCA359213961DNAH5c.5223T>G (p.His1741Gln)
c.5178T>G (p.His1726Gln)
n.5430T>G
c.5331T>G (p.His1777Gln)
c.4236T>G (p.His1412Gln)
c.420T>G (p.His140Gln)
c.22-2981T>G (n.22-2981T>G)
c.3825T>G (p.His1275Gln)
n.5348T>G
5g.13844885A>GCA443257788DNAH5c.5223T>C (p.His1741=)
c.5178T>C (p.His1726=)
n.5430T>C
c.5331T>C (p.His1777=)
c.4236T>C (p.His1412=)
c.420T>C (p.His140=)
c.22-2981T>C (n.22-2981T>C)
c.3825T>C (p.His1275=)
n.5348T>C
 ClinVar
5g.13844885A>TCA359213970DNAH5c.5223T>A (p.His1741Gln)
c.5178T>A (p.His1726Gln)
n.5430T>A
c.5331T>A (p.His1777Gln)
c.4236T>A (p.His1412Gln)
c.420T>A (p.His140Gln)
c.22-2981T>A (n.22-2981T>A)
c.3825T>A (p.His1275Gln)
n.5348T>A
5g.13844886T>ACA359213972DNAH5c.5222A>T (p.His1741Leu)
c.5177A>T (p.His1726Leu)
n.5429A>T
c.5330A>T (p.His1777Leu)
c.4235A>T (p.His1412Leu)
c.419A>T (p.His140Leu)
c.22-2982A>T (n.22-2982A>T)
c.3824A>T (p.His1275Leu)
n.5347A>T
5g.13844886T>CCA359213975DNAH5c.5222A>G (p.His1741Arg)
c.5177A>G (p.His1726Arg)
n.5429A>G
c.5330A>G (p.His1777Arg)
c.4235A>G (p.His1412Arg)
c.419A>G (p.His140Arg)
c.22-2982A>G (n.22-2982A>G)
c.3824A>G (p.His1275Arg)
n.5347A>G
 gnomAD v4
5g.13844886T>GCA359213981DNAH5c.5222A>C (p.His1741Pro)
c.5177A>C (p.His1726Pro)
n.5429A>C
c.5330A>C (p.His1777Pro)
c.4235A>C (p.His1412Pro)
c.419A>C (p.His140Pro)
c.22-2982A>C (n.22-2982A>C)
c.3824A>C (p.His1275Pro)
n.5347A>C
5g.13844887G>ACA359213985DNAH5c.5221C>T (p.His1741Tyr)
c.5176C>T (p.His1726Tyr)
n.5428C>T
c.5329C>T (p.His1777Tyr)
c.4234C>T (p.His1412Tyr)
c.418C>T (p.His140Tyr)
c.22-2983C>T (n.22-2983C>T)
c.3823C>T (p.His1275Tyr)
n.5346C>T
 gnomAD v4
5g.13844887G>CCA359213987DNAH5c.5221C>G (p.His1741Asp)
c.5176C>G (p.His1726Asp)
n.5428C>G
c.5329C>G (p.His1777Asp)
c.4234C>G (p.His1412Asp)
c.418C>G (p.His140Asp)
c.22-2983C>G (n.22-2983C>G)
c.3823C>G (p.His1275Asp)
n.5346C>G
5g.13844887G>TCA359213997DNAH5c.5221C>A (p.His1741Asn)
c.5176C>A (p.His1726Asn)
n.5428C>A
c.5329C>A (p.His1777Asn)
c.4234C>A (p.His1412Asn)
c.418C>A (p.His140Asn)
c.22-2983C>A (n.22-2983C>A)
c.3823C>A (p.His1275Asn)
n.5346C>A
 gnomAD v4
5g.13844889delCA2673274717DNAH5c.5221del (p.His1741IlefsTer3)
c.5176del (p.His1726IlefsTer3)
n.5428del
c.5329del (p.His1777IlefsTer3)
c.4234del (p.His1412IlefsTer3)
c.418del (p.His140IlefsTer3)
c.22-2983del (n.22-2983del)
c.3823del (p.His1275IlefsTer3)
n.5346del
 ClinVar gnomAD v4
5g.13844888G>ACA443257802DNAH5c.5220C>T (p.Ala1740=)
c.5175C>T (p.Ala1725=)
n.5427C>T
c.5328C>T (p.Ala1776=)
c.4233C>T (p.Ala1411=)
c.417C>T (p.Ala139=)
c.22-2984C>T (n.22-2984C>T)
c.3822C>T (p.Ala1274=)
n.5345C>T
5g.13844888G>CCA443257800DNAH5c.5220C>G (p.Ala1740=)
c.5175C>G (p.Ala1725=)
n.5427C>G
c.5328C>G (p.Ala1776=)
c.4233C>G (p.Ala1411=)
c.417C>G (p.Ala139=)
c.22-2984C>G (n.22-2984C>G)
c.3822C>G (p.Ala1274=)
n.5345C>G
5g.13844888G>TCA443257797DNAH5c.5220C>A (p.Ala1740=)
c.5175C>A (p.Ala1725=)
n.5427C>A
c.5328C>A (p.Ala1776=)
c.4233C>A (p.Ala1411=)
c.417C>A (p.Ala139=)
c.22-2984C>A (n.22-2984C>A)
c.3822C>A (p.Ala1274=)
n.5345C>A
5g.13844889G>ACA359213999DNAH5c.5219C>T (p.Ala1740Val)
c.5174C>T (p.Ala1725Val)
n.5426C>T
c.5327C>T (p.Ala1776Val)
c.4232C>T (p.Ala1411Val)
c.416C>T (p.Ala139Val)
c.22-2985C>T (n.22-2985C>T)
c.3821C>T (p.Ala1274Val)
n.5344C>T
 ClinVar dbSNP gnomAD v4
5g.13844889G>CCA359214000DNAH5c.5219C>G (p.Ala1740Gly)
c.5174C>G (p.Ala1725Gly)
n.5426C>G
c.5327C>G (p.Ala1776Gly)
c.4232C>G (p.Ala1411Gly)
c.416C>G (p.Ala139Gly)
c.22-2985C>G (n.22-2985C>G)
c.3821C>G (p.Ala1274Gly)
n.5344C>G
5g.13844889G=CA1528465029DNAH5c.5219C= (p.Ala1740=)
c.5174C= (p.Ala1725=)
n.5426C=
c.5327C= (p.Ala1776=)
c.4232C= (p.Ala1411=)
c.416C= (p.Ala139=)
c.22-2985C= (n.22-2985C=)
c.3821C= (p.Ala1274=)
n.5344C=
5g.13844889G>TCA359213998DNAH5c.5219C>A (p.Ala1740Asp)
c.5174C>A (p.Ala1725Asp)
n.5426C>A
c.5327C>A (p.Ala1776Asp)
c.4232C>A (p.Ala1411Asp)
c.416C>A (p.Ala139Asp)
c.22-2985C>A (n.22-2985C>A)
c.3821C>A (p.Ala1274Asp)
n.5344C>A
5g.13844890C>ACA3203760DNAH5c.5218G>T (p.Ala1740Ser)
c.5173G>T (p.Ala1725Ser)
n.5425G>T
c.5326G>T (p.Ala1776Ser)
c.4231G>T (p.Ala1411Ser)
c.415G>T (p.Ala139Ser)
c.22-2986G>T (n.22-2986G>T)
c.3820G>T (p.Ala1274Ser)
n.5343G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844890C=CA1528465030DNAH5c.5218G= (p.Ala1740=)
c.5173G= (p.Ala1725=)
n.5425G=
c.5326G= (p.Ala1776=)
c.4231G= (p.Ala1411=)
c.415G= (p.Ala139=)
c.22-2986G= (n.22-2986G=)
c.3820G= (p.Ala1274=)
n.5343G=
5g.13844890C>GCA359214003DNAH5c.5218G>C (p.Ala1740Pro)
c.5173G>C (p.Ala1725Pro)
n.5425G>C
c.5326G>C (p.Ala1776Pro)
c.4231G>C (p.Ala1411Pro)
c.415G>C (p.Ala139Pro)
c.22-2986G>C (n.22-2986G>C)
c.3820G>C (p.Ala1274Pro)
n.5343G>C
 gnomAD v4
5g.13844890C>TCA359214006DNAH5c.5218G>A (p.Ala1740Thr)
c.5173G>A (p.Ala1725Thr)
n.5425G>A
c.5326G>A (p.Ala1776Thr)
c.4231G>A (p.Ala1411Thr)
c.415G>A (p.Ala139Thr)
c.22-2986G>A (n.22-2986G>A)
c.3820G>A (p.Ala1274Thr)
n.5343G>A
 COSMIC
5g.13844891C>ACA359214008DNAH5c.5217G>T (p.Gln1739His)
c.5172G>T (p.Gln1724His)
n.5424G>T
c.5325G>T (p.Gln1775His)
c.4230G>T (p.Gln1410His)
c.414G>T (p.Gln138His)
c.22-2987G>T (n.22-2987G>T)
c.3819G>T (p.Gln1273His)
n.5342G>T
5g.13844891C>GCA359214009DNAH5c.5217G>C (p.Gln1739His)
c.5172G>C (p.Gln1724His)
n.5424G>C
c.5325G>C (p.Gln1775His)
c.4230G>C (p.Gln1410His)
c.414G>C (p.Gln138His)
c.22-2987G>C (n.22-2987G>C)
c.3819G>C (p.Gln1273His)
n.5342G>C
5g.13844891C>TCA443257809DNAH5c.5217G>A (p.Gln1739=)
c.5172G>A (p.Gln1724=)
n.5424G>A
c.5325G>A (p.Gln1775=)
c.4230G>A (p.Gln1410=)
c.414G>A (p.Gln138=)
c.22-2987G>A (n.22-2987G>A)
c.3819G>A (p.Gln1273=)
n.5342G>A
5g.13844892T>ACA359214011DNAH5c.5216A>T (p.Gln1739Leu)
c.5171A>T (p.Gln1724Leu)
n.5423A>T
c.5324A>T (p.Gln1775Leu)
c.4229A>T (p.Gln1410Leu)
c.413A>T (p.Gln138Leu)
c.22-2988A>T (n.22-2988A>T)
c.3818A>T (p.Gln1273Leu)
n.5341A>T
5g.13844892T>CCA359214013DNAH5c.5216A>G (p.Gln1739Arg)
c.5171A>G (p.Gln1724Arg)
n.5423A>G
c.5324A>G (p.Gln1775Arg)
c.4229A>G (p.Gln1410Arg)
c.413A>G (p.Gln138Arg)
c.22-2988A>G (n.22-2988A>G)
c.3818A>G (p.Gln1273Arg)
n.5341A>G
 dbSNP gnomAD v2
5g.13844892T>GCA359214016DNAH5c.5216A>C (p.Gln1739Pro)
c.5171A>C (p.Gln1724Pro)
n.5423A>C
c.5324A>C (p.Gln1775Pro)
c.4229A>C (p.Gln1410Pro)
c.413A>C (p.Gln138Pro)
c.22-2988A>C (n.22-2988A>C)
c.3818A>C (p.Gln1273Pro)
n.5341A>C
5g.13844892T=CA1528465031DNAH5c.5216A= (p.Gln1739=)
c.5171A= (p.Gln1724=)
n.5423A=
c.5324A= (p.Gln1775=)
c.4229A= (p.Gln1410=)
c.413A= (p.Gln138=)
c.22-2988A= (n.22-2988A=)
c.3818A= (p.Gln1273=)
n.5341A=
5g.13844893G>ACA113954563DNAH5c.5215C>T (p.Gln1739Ter)
c.5170C>T (p.Gln1724Ter)
n.5422C>T
c.5323C>T (p.Gln1775Ter)
c.4228C>T (p.Gln1410Ter)
c.412C>T (p.Gln138Ter)
c.22-2989C>T (n.22-2989C>T)
c.3817C>T (p.Gln1273Ter)
n.5340C>T
 dbSNP
5g.13844893G>CCA359214028DNAH5c.5215C>G (p.Gln1739Glu)
c.5170C>G (p.Gln1724Glu)
n.5422C>G
c.5323C>G (p.Gln1775Glu)
c.4228C>G (p.Gln1410Glu)
c.412C>G (p.Gln138Glu)
c.22-2989C>G (n.22-2989C>G)
c.3817C>G (p.Gln1273Glu)
n.5340C>G
5g.13844893G=CA1528465032DNAH5c.5215C= (p.Gln1739=)
c.5170C= (p.Gln1724=)
n.5422C=
c.5323C= (p.Gln1775=)
c.4228C= (p.Gln1410=)
c.412C= (p.Gln138=)
c.22-2989C= (n.22-2989C=)
c.3817C= (p.Gln1273=)
n.5340C=
5g.13844893G>TCA359214032DNAH5c.5215C>A (p.Gln1739Lys)
c.5170C>A (p.Gln1724Lys)
n.5422C>A
c.5323C>A (p.Gln1775Lys)
c.4228C>A (p.Gln1410Lys)
c.412C>A (p.Gln138Lys)
c.22-2989C>A (n.22-2989C>A)
c.3817C>A (p.Gln1273Lys)
n.5340C>A
5g.13844894T>ACA443257819DNAH5c.5214A>T (p.Ile1738=)
c.5169A>T (p.Ile1723=)
n.5421A>T
c.5322A>T (p.Ile1774=)
c.4227A>T (p.Ile1409=)
c.411A>T (p.Ile137=)
c.22-2990A>T (n.22-2990A>T)
c.3816A>T (p.Ile1272=)
n.5339A>T
 gnomAD v4
5g.13844894T>CCA359214034DNAH5c.5214A>G (p.Ile1738Met)
c.5169A>G (p.Ile1723Met)
n.5421A>G
c.5322A>G (p.Ile1774Met)
c.4227A>G (p.Ile1409Met)
c.411A>G (p.Ile137Met)
c.22-2990A>G (n.22-2990A>G)
c.3816A>G (p.Ile1272Met)
n.5339A>G
 gnomAD v4
5g.13844894T>GCA443257822DNAH5c.5214A>C (p.Ile1738=)
c.5169A>C (p.Ile1723=)
n.5421A>C
c.5322A>C (p.Ile1774=)
c.4227A>C (p.Ile1409=)
c.411A>C (p.Ile137=)
c.22-2990A>C (n.22-2990A>C)
c.3816A>C (p.Ile1272=)
n.5339A>C
5g.13844895A>CCA359214037DNAH5c.5213T>G (p.Ile1738Arg)
c.5168T>G (p.Ile1723Arg)
n.5420T>G
c.5321T>G (p.Ile1774Arg)
c.4226T>G (p.Ile1409Arg)
c.410T>G (p.Ile137Arg)
c.22-2991T>G (n.22-2991T>G)
c.3815T>G (p.Ile1272Arg)
n.5338T>G
5g.13844895A>GCA359214038DNAH5c.5213T>C (p.Ile1738Thr)
c.5168T>C (p.Ile1723Thr)
n.5420T>C
c.5321T>C (p.Ile1774Thr)
c.4226T>C (p.Ile1409Thr)
c.410T>C (p.Ile137Thr)
c.22-2991T>C (n.22-2991T>C)
c.3815T>C (p.Ile1272Thr)
n.5338T>C
 gnomAD v4
5g.13844895A>TCA359214036DNAH5c.5213T>A (p.Ile1738Lys)
c.5168T>A (p.Ile1723Lys)
n.5420T>A
c.5321T>A (p.Ile1774Lys)
c.4226T>A (p.Ile1409Lys)
c.410T>A (p.Ile137Lys)
c.22-2991T>A (n.22-2991T>A)
c.3815T>A (p.Ile1272Lys)
n.5338T>A
5g.13844896T>ACA359214039DNAH5c.5212A>T (p.Ile1738Leu)
c.5167A>T (p.Ile1723Leu)
n.5419A>T
c.5320A>T (p.Ile1774Leu)
c.4225A>T (p.Ile1409Leu)
c.409A>T (p.Ile137Leu)
c.22-2992A>T (n.22-2992A>T)
c.3814A>T (p.Ile1272Leu)
n.5337A>T
5g.13844896T>CCA359214040DNAH5c.5212A>G (p.Ile1738Val)
c.5167A>G (p.Ile1723Val)
n.5419A>G
c.5320A>G (p.Ile1774Val)
c.4225A>G (p.Ile1409Val)
c.409A>G (p.Ile137Val)
c.22-2992A>G (n.22-2992A>G)
c.3814A>G (p.Ile1272Val)
n.5337A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13844896T>GCA359214041DNAH5c.5212A>C (p.Ile1738Leu)
c.5167A>C (p.Ile1723Leu)
n.5419A>C
c.5320A>C (p.Ile1774Leu)
c.4225A>C (p.Ile1409Leu)
c.409A>C (p.Ile137Leu)
c.22-2992A>C (n.22-2992A>C)
c.3814A>C (p.Ile1272Leu)
n.5337A>C
 ClinVar gnomAD v4
5g.13844896T=CA1528465033DNAH5c.5212A= (p.Ile1738=)
c.5167A= (p.Ile1723=)
n.5419A=
c.5320A= (p.Ile1774=)
c.4225A= (p.Ile1409=)
c.409A= (p.Ile137=)
c.22-2992A= (n.22-2992A=)
c.3814A= (p.Ile1272=)
n.5337A=
5g.13844897A>CCA443257828DNAH5c.5211T>G (p.Thr1737=)
c.5166T>G (p.Thr1722=)
n.5418T>G
c.5319T>G (p.Thr1773=)
c.4224T>G (p.Thr1408=)
c.408T>G (p.Thr136=)
c.22-2993T>G (n.22-2993T>G)
c.3813T>G (p.Thr1271=)
n.5336T>G
5g.13844897A>GCA443257830DNAH5c.5211T>C (p.Thr1737=)
c.5166T>C (p.Thr1722=)
n.5418T>C
c.5319T>C (p.Thr1773=)
c.4224T>C (p.Thr1408=)
c.408T>C (p.Thr136=)
c.22-2993T>C (n.22-2993T>C)
c.3813T>C (p.Thr1271=)
n.5336T>C
5g.13844897A>TCA443257832DNAH5c.5211T>A (p.Thr1737=)
c.5166T>A (p.Thr1722=)
n.5418T>A
c.5319T>A (p.Thr1773=)
c.4224T>A (p.Thr1408=)
c.408T>A (p.Thr136=)
c.22-2993T>A (n.22-2993T>A)
c.3813T>A (p.Thr1271=)
n.5336T>A
5g.13844898G>ACA359214042DNAH5c.5210C>T (p.Thr1737Ile)
c.5165C>T (p.Thr1722Ile)
n.5417C>T
c.5318C>T (p.Thr1773Ile)
c.4223C>T (p.Thr1408Ile)
c.407C>T (p.Thr136Ile)
c.22-2994C>T (n.22-2994C>T)
c.3812C>T (p.Thr1271Ile)
n.5335C>T
 dbSNP gnomAD v4
5g.13844898G>CCA359214044DNAH5c.5210C>G (p.Thr1737Ser)
c.5165C>G (p.Thr1722Ser)
n.5417C>G
c.5318C>G (p.Thr1773Ser)
c.4223C>G (p.Thr1408Ser)
c.407C>G (p.Thr136Ser)
c.22-2994C>G (n.22-2994C>G)
c.3812C>G (p.Thr1271Ser)
n.5335C>G
 gnomAD v4
5g.13844898G=CA1528465034DNAH5c.5210C= (p.Thr1737=)
c.5165C= (p.Thr1722=)
n.5417C=
c.5318C= (p.Thr1773=)
c.4223C= (p.Thr1408=)
c.407C= (p.Thr136=)
c.22-2994C= (n.22-2994C=)
c.3812C= (p.Thr1271=)
n.5335C=
5g.13844898G>TCA359214045DNAH5c.5210C>A (p.Thr1737Asn)
c.5165C>A (p.Thr1722Asn)
n.5417C>A
c.5318C>A (p.Thr1773Asn)
c.4223C>A (p.Thr1408Asn)
c.407C>A (p.Thr136Asn)
c.22-2994C>A (n.22-2994C>A)
c.3812C>A (p.Thr1271Asn)
n.5335C>A
 dbSNP gnomAD v4
5g.13844899T>ACA359214050DNAH5c.5209A>T (p.Thr1737Ser)
c.5164A>T (p.Thr1722Ser)
n.5416A>T
c.5317A>T (p.Thr1773Ser)
c.4222A>T (p.Thr1408Ser)
c.406A>T (p.Thr136Ser)
c.22-2995A>T (n.22-2995A>T)
c.3811A>T (p.Thr1271Ser)
n.5334A>T
5g.13844899T>CCA113954569DNAH5c.5209A>G (p.Thr1737Ala)
c.5164A>G (p.Thr1722Ala)
n.5416A>G
c.5317A>G (p.Thr1773Ala)
c.4222A>G (p.Thr1408Ala)
c.406A>G (p.Thr136Ala)
c.22-2995A>G (n.22-2995A>G)
c.3811A>G (p.Thr1271Ala)
n.5334A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13844899T>GCA359214052DNAH5c.5209A>C (p.Thr1737Pro)
c.5164A>C (p.Thr1722Pro)
n.5416A>C
c.5317A>C (p.Thr1773Pro)
c.4222A>C (p.Thr1408Pro)
c.406A>C (p.Thr136Pro)
c.22-2995A>C (n.22-2995A>C)
c.3811A>C (p.Thr1271Pro)
n.5334A>C
5g.13844899T=CA1528465035DNAH5c.5209A= (p.Thr1737=)
c.5164A= (p.Thr1722=)
n.5416A=
c.5317A= (p.Thr1773=)
c.4222A= (p.Thr1408=)
c.406A= (p.Thr136=)
c.22-2995A= (n.22-2995A=)
c.3811A= (p.Thr1271=)
n.5334A=
5g.13844900G>ACA443257839DNAH5c.5208C>T (p.His1736=)
c.5163C>T (p.His1721=)
n.5415C>T
c.5316C>T (p.His1772=)
c.4221C>T (p.His1407=)
c.405C>T (p.His135=)
c.22-2996C>T (n.22-2996C>T)
c.3810C>T (p.His1270=)
n.5333C>T
5g.13844900G>CCA359214053DNAH5c.5208C>G (p.His1736Gln)
c.5163C>G (p.His1721Gln)
n.5415C>G
c.5316C>G (p.His1772Gln)
c.4221C>G (p.His1407Gln)
c.405C>G (p.His135Gln)
c.22-2996C>G (n.22-2996C>G)
c.3810C>G (p.His1270Gln)
n.5333C>G
5g.13844900G>TCA359214055DNAH5c.5208C>A (p.His1736Gln)
c.5163C>A (p.His1721Gln)
n.5415C>A
c.5316C>A (p.His1772Gln)
c.4221C>A (p.His1407Gln)
c.405C>A (p.His135Gln)
c.22-2996C>A (n.22-2996C>A)
c.3810C>A (p.His1270Gln)
n.5333C>A
5g.13844901T>ACA359214057DNAH5c.5207A>T (p.His1736Leu)
c.5162A>T (p.His1721Leu)
n.5414A>T
c.5315A>T (p.His1772Leu)
c.4220A>T (p.His1407Leu)
c.404A>T (p.His135Leu)
c.22-2997A>T (n.22-2997A>T)
c.3809A>T (p.His1270Leu)
n.5332A>T
5g.13844901T>CCA359214059DNAH5c.5207A>G (p.His1736Arg)
c.5162A>G (p.His1721Arg)
n.5414A>G
c.5315A>G (p.His1772Arg)
c.4220A>G (p.His1407Arg)
c.404A>G (p.His135Arg)
c.22-2997A>G (n.22-2997A>G)
c.3809A>G (p.His1270Arg)
n.5332A>G
 dbSNP gnomAD v3 gnomAD v4
5g.13844901T>GCA359214066DNAH5c.5207A>C (p.His1736Pro)
c.5162A>C (p.His1721Pro)
n.5414A>C
c.5315A>C (p.His1772Pro)
c.4220A>C (p.His1407Pro)
c.404A>C (p.His135Pro)
c.22-2997A>C (n.22-2997A>C)
c.3809A>C (p.His1270Pro)
n.5332A>C
5g.13844901T=CA1528465036DNAH5c.5207A= (p.His1736=)
c.5162A= (p.His1721=)
n.5414A=
c.5315A= (p.His1772=)
c.4220A= (p.His1407=)
c.404A= (p.His135=)
c.22-2997A= (n.22-2997A=)
c.3809A= (p.His1270=)
n.5332A=
5g.13844902G>ACA3203761DNAH5c.5206C>T (p.His1736Tyr)
c.5161C>T (p.His1721Tyr)
n.5413C>T
c.5314C>T (p.His1772Tyr)
c.4219C>T (p.His1407Tyr)
c.403C>T (p.His135Tyr)
c.22-2998C>T (n.22-2998C>T)
c.3808C>T (p.His1270Tyr)
n.5331C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13844902G>CCA359214072DNAH5c.5206C>G (p.His1736Asp)
c.5161C>G (p.His1721Asp)
n.5413C>G
c.5314C>G (p.His1772Asp)
c.4219C>G (p.His1407Asp)
c.403C>G (p.His135Asp)
c.22-2998C>G (n.22-2998C>G)
c.3808C>G (p.His1270Asp)
n.5331C>G
5g.13844902G=CA1528465037DNAH5c.5206C= (p.His1736=)
c.5161C= (p.His1721=)
n.5413C=
c.5314C= (p.His1772=)
c.4219C= (p.His1407=)
c.403C= (p.His135=)
c.22-2998C= (n.22-2998C=)
c.3808C= (p.His1270=)
n.5331C=
5g.13844902G>TCA359214068DNAH5c.5206C>A (p.His1736Asn)
c.5161C>A (p.His1721Asn)
n.5413C>A
c.5314C>A (p.His1772Asn)
c.4219C>A (p.His1407Asn)
c.403C>A (p.His135Asn)
c.22-2998C>A (n.22-2998C>A)
c.3808C>A (p.His1270Asn)
n.5331C>A
 ClinVar
5g.13844903G>ACA443257850DNAH5c.5205C>T (p.Ser1735=)
c.5160C>T (p.Ser1720=)
n.5412C>T
c.5313C>T (p.Ser1771=)
c.4218C>T (p.Ser1406=)
c.402C>T (p.Ser134=)
c.22-2999C>T (n.22-2999C>T)
c.3807C>T (p.Ser1269=)
n.5330C>T
5g.13844903G>CCA443257851DNAH5c.5205C>G (p.Ser1735=)
c.5160C>G (p.Ser1720=)
n.5412C>G
c.5313C>G (p.Ser1771=)
c.4218C>G (p.Ser1406=)
c.402C>G (p.Ser134=)
c.22-2999C>G (n.22-2999C>G)
c.3807C>G (p.Ser1269=)
n.5330C>G
5g.13844903G>TCA443257853DNAH5c.5205C>A (p.Ser1735=)
c.5160C>A (p.Ser1720=)
n.5412C>A
c.5313C>A (p.Ser1771=)
c.4218C>A (p.Ser1406=)
c.402C>A (p.Ser134=)
c.22-2999C>A (n.22-2999C>A)
c.3807C>A (p.Ser1269=)
n.5330C>A
5g.13844904G>ACA359214078DNAH5c.5204C>T (p.Ser1735Phe)
c.5159C>T (p.Ser1720Phe)
n.5411C>T
c.5312C>T (p.Ser1771Phe)
c.4217C>T (p.Ser1406Phe)
c.401C>T (p.Ser134Phe)
c.22-3000C>T (n.22-3000C>T)
c.3806C>T (p.Ser1269Phe)
n.5329C>T
5g.13844904G>CCA359214075DNAH5c.5204C>G (p.Ser1735Cys)
c.5159C>G (p.Ser1720Cys)
n.5411C>G
c.5312C>G (p.Ser1771Cys)
c.4217C>G (p.Ser1406Cys)
c.401C>G (p.Ser134Cys)
c.22-3000C>G (n.22-3000C>G)
c.3806C>G (p.Ser1269Cys)
n.5329C>G
5g.13844904G=CA1528465038DNAH5c.5204C= (p.Ser1735=)
c.5159C= (p.Ser1720=)
n.5411C=
c.5312C= (p.Ser1771=)
c.4217C= (p.Ser1406=)
c.401C= (p.Ser134=)
c.22-3000C= (n.22-3000C=)
c.3806C= (p.Ser1269=)
n.5329C=
5g.13844904G>TCA359214079DNAH5c.5204C>A (p.Ser1735Tyr)
c.5159C>A (p.Ser1720Tyr)
n.5411C>A
c.5312C>A (p.Ser1771Tyr)
c.4217C>A (p.Ser1406Tyr)
c.401C>A (p.Ser134Tyr)
c.22-3000C>A (n.22-3000C>A)
c.3806C>A (p.Ser1269Tyr)
n.5329C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13844905A>CCA359214080DNAH5c.5203T>G (p.Ser1735Ala)
c.5158T>G (p.Ser1720Ala)
n.5410T>G
c.5311T>G (p.Ser1771Ala)
c.4216T>G (p.Ser1406Ala)
c.400T>G (p.Ser134Ala)
c.22-3001T>G (n.22-3001T>G)
c.3805T>G (p.Ser1269Ala)
n.5328T>G
5g.13844905A>GCA359214083DNAH5c.5203T>C (p.Ser1735Pro)
c.5158T>C (p.Ser1720Pro)
n.5410T>C
c.5311T>C (p.Ser1771Pro)
c.4216T>C (p.Ser1406Pro)
c.400T>C (p.Ser134Pro)
c.22-3001T>C (n.22-3001T>C)
c.3805T>C (p.Ser1269Pro)
n.5328T>C
5g.13844905A>TCA359214081DNAH5c.5203T>A (p.Ser1735Thr)
c.5158T>A (p.Ser1720Thr)
n.5410T>A
c.5311T>A (p.Ser1771Thr)
c.4216T>A (p.Ser1406Thr)
c.400T>A (p.Ser134Thr)
c.22-3001T>A (n.22-3001T>A)
c.3805T>A (p.Ser1269Thr)
n.5328T>A
5g.13844906delCA2697547064DNAH5c.5202del (p.Ser1735ProfsTer9)
c.5157del (p.Ser1720ProfsTer9)
n.5409del
c.5310del (p.Ser1771ProfsTer9)
c.4215del (p.Ser1406ProfsTer9)
c.399del (p.Ser134ProfsTer9)
c.22-3002del (n.22-3002del)
c.3804del (p.Ser1269ProfsTer9)
n.5327del
 ClinVar
5g.13844906G>ACA443257860DNAH5c.5202C>T (p.Asp1734=)
c.5157C>T (p.Asp1719=)
n.5409C>T
c.5310C>T (p.Asp1770=)
c.4215C>T (p.Asp1405=)
c.399C>T (p.Asp133=)
c.22-3002C>T (n.22-3002C>T)
c.3804C>T (p.Asp1268=)
n.5327C>T
5g.13844906G>CCA359214087DNAH5c.5202C>G (p.Asp1734Glu)
c.5157C>G (p.Asp1719Glu)
n.5409C>G
c.5310C>G (p.Asp1770Glu)
c.4215C>G (p.Asp1405Glu)
c.399C>G (p.Asp133Glu)
c.22-3002C>G (n.22-3002C>G)
c.3804C>G (p.Asp1268Glu)
n.5327C>G
5g.13844906G>TCA359214092DNAH5c.5202C>A (p.Asp1734Glu)
c.5157C>A (p.Asp1719Glu)
n.5409C>A
c.5310C>A (p.Asp1770Glu)
c.4215C>A (p.Asp1405Glu)
c.399C>A (p.Asp133Glu)
c.22-3002C>A (n.22-3002C>A)
c.3804C>A (p.Asp1268Glu)
n.5327C>A
5g.13844907T>ACA359214094DNAH5c.5201A>T (p.Asp1734Val)
c.5156A>T (p.Asp1719Val)
n.5408A>T
c.5309A>T (p.Asp1770Val)
c.4214A>T (p.Asp1405Val)
c.398A>T (p.Asp133Val)
c.22-3003A>T (n.22-3003A>T)
c.3803A>T (p.Asp1268Val)
n.5326A>T
5g.13844907T>CCA359214095DNAH5c.5201A>G (p.Asp1734Gly)
c.5156A>G (p.Asp1719Gly)
n.5408A>G
c.5309A>G (p.Asp1770Gly)
c.4214A>G (p.Asp1405Gly)
c.398A>G (p.Asp133Gly)
c.22-3003A>G (n.22-3003A>G)
c.3803A>G (p.Asp1268Gly)
n.5326A>G
5g.13844907T>GCA359214096DNAH5c.5201A>C (p.Asp1734Ala)
c.5156A>C (p.Asp1719Ala)
n.5408A>C
c.5309A>C (p.Asp1770Ala)
c.4214A>C (p.Asp1405Ala)
c.398A>C (p.Asp133Ala)
c.22-3003A>C (n.22-3003A>C)
c.3803A>C (p.Asp1268Ala)
n.5326A>C
5g.13844908C>ACA359214097DNAH5c.5200G>T (p.Asp1734Tyr)
c.5155G>T (p.Asp1719Tyr)
n.5407G>T
c.5308G>T (p.Asp1770Tyr)
c.4213G>T (p.Asp1405Tyr)
c.397G>T (p.Asp133Tyr)
c.22-3004G>T (n.22-3004G>T)
c.3802G>T (p.Asp1268Tyr)
n.5325G>T
 gnomAD v4
5g.13844908C=CA1528465039DNAH5c.5200G= (p.Asp1734=)
c.5155G= (p.Asp1719=)
n.5407G=
c.5308G= (p.Asp1770=)
c.4213G= (p.Asp1405=)
c.397G= (p.Asp133=)
c.22-3004G= (n.22-3004G=)
c.3802G= (p.Asp1268=)
n.5325G=
5g.13844908C>GCA359214098DNAH5c.5200G>C (p.Asp1734His)
c.5155G>C (p.Asp1719His)
n.5407G>C
c.5308G>C (p.Asp1770His)
c.4213G>C (p.Asp1405His)
c.397G>C (p.Asp133His)
c.22-3004G>C (n.22-3004G>C)
c.3802G>C (p.Asp1268His)
n.5325G>C
5g.13844908C>TCA359214100DNAH5c.5200G>A (p.Asp1734Asn)
c.5155G>A (p.Asp1719Asn)
n.5407G>A
c.5308G>A (p.Asp1770Asn)
c.4213G>A (p.Asp1405Asn)
c.397G>A (p.Asp133Asn)
c.22-3004G>A (n.22-3004G>A)
c.3802G>A (p.Asp1268Asn)
n.5325G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13844909C>ACA443257867DNAH5c.5199G>T (p.Ser1733=)
c.5154G>T (p.Ser1718=)
n.5406G>T
c.5307G>T (p.Ser1769=)
c.4212G>T (p.Ser1404=)
c.396G>T (p.Ser132=)
c.22-3005G>T (n.22-3005G>T)
c.3801G>T (p.Ser1267=)
n.5324G>T
5g.13844909C=CA1528465040DNAH5c.5199G= (p.Ser1733=)
c.5154G= (p.Ser1718=)
n.5406G=
c.5307G= (p.Ser1769=)
c.4212G= (p.Ser1404=)
c.396G= (p.Ser132=)
c.22-3005G= (n.22-3005G=)
c.3801G= (p.Ser1267=)
n.5324G=
5g.13844909C>GCA443257871DNAH5c.5199G>C (p.Ser1733=)
c.5154G>C (p.Ser1718=)
n.5406G>C
c.5307G>C (p.Ser1769=)
c.4212G>C (p.Ser1404=)
c.396G>C (p.Ser132=)
c.22-3005G>C (n.22-3005G>C)
c.3801G>C (p.Ser1267=)
n.5324G>C
 gnomAD v4
5g.13844909C>TCA3203762DNAH5c.5199G>A (p.Ser1733=)
c.5154G>A (p.Ser1718=)
n.5406G>A
c.5307G>A (p.Ser1769=)
c.4212G>A (p.Ser1404=)
c.396G>A (p.Ser132=)
c.22-3005G>A (n.22-3005G>A)
c.3801G>A (p.Ser1267=)
n.5324G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844909_13844910delinsACA2580072033DNAH5c.5198_5199delinsT (p.Ser1733LeufsTer11)
c.5153_5154delinsT (p.Ser1718LeufsTer11)
n.5405_5406delinsT
c.5306_5307delinsT (p.Ser1769LeufsTer11)
c.4211_4212delinsT (p.Ser1404LeufsTer11)
c.395_396delinsT (p.Ser132LeufsTer11)
c.22-3006_22-3005delinsT (n.22-3006_22-3005delinsT)
c.3800_3801delinsT (p.Ser1267LeufsTer11)
n.5323_5324delinsT
 ClinVar
5g.13844910G>ACA3203763DNAH5c.5198C>T (p.Ser1733Leu)
c.5153C>T (p.Ser1718Leu)
n.5405C>T
c.5306C>T (p.Ser1769Leu)
c.4211C>T (p.Ser1404Leu)
c.395C>T (p.Ser132Leu)
c.22-3006C>T (n.22-3006C>T)
c.3800C>T (p.Ser1267Leu)
n.5323C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844910G>CCA359214104DNAH5c.5198C>G (p.Ser1733Trp)
c.5153C>G (p.Ser1718Trp)
n.5405C>G
c.5306C>G (p.Ser1769Trp)
c.4211C>G (p.Ser1404Trp)
c.395C>G (p.Ser132Trp)
c.22-3006C>G (n.22-3006C>G)
c.3800C>G (p.Ser1267Trp)
n.5323C>G
5g.13844910G=CA1528465041DNAH5c.5198C= (p.Ser1733=)
c.5153C= (p.Ser1718=)
n.5405C=
c.5306C= (p.Ser1769=)
c.4211C= (p.Ser1404=)
c.395C= (p.Ser132=)
c.22-3006C= (n.22-3006C=)
c.3800C= (p.Ser1267=)
n.5323C=
5g.13844910G>TCA359214105DNAH5c.5198C>A (p.Ser1733Ter)
c.5153C>A (p.Ser1718Ter)
n.5405C>A
c.5306C>A (p.Ser1769Ter)
c.4211C>A (p.Ser1404Ter)
c.395C>A (p.Ser132Ter)
c.22-3006C>A (n.22-3006C>A)
c.3800C>A (p.Ser1267Ter)
n.5323C>A
 ClinVar dbSNP
5g.13844911A>CCA359214109DNAH5c.5197T>G (p.Ser1733Ala)
c.5152T>G (p.Ser1718Ala)
n.5404T>G
c.5305T>G (p.Ser1769Ala)
c.4210T>G (p.Ser1404Ala)
c.394T>G (p.Ser132Ala)
c.22-3007T>G (n.22-3007T>G)
c.3799T>G (p.Ser1267Ala)
n.5322T>G
 gnomAD v4
5g.13844911A>GCA359214110DNAH5c.5197T>C (p.Ser1733Pro)
c.5152T>C (p.Ser1718Pro)
n.5404T>C
c.5305T>C (p.Ser1769Pro)
c.4210T>C (p.Ser1404Pro)
c.394T>C (p.Ser132Pro)
c.22-3007T>C (n.22-3007T>C)
c.3799T>C (p.Ser1267Pro)
n.5322T>C
5g.13844911A>TCA359214111DNAH5c.5197T>A (p.Ser1733Thr)
c.5152T>A (p.Ser1718Thr)
n.5404T>A
c.5305T>A (p.Ser1769Thr)
c.4210T>A (p.Ser1404Thr)
c.394T>A (p.Ser132Thr)
c.22-3007T>A (n.22-3007T>A)
c.3799T>A (p.Ser1267Thr)
n.5322T>A
5g.13844912C>ACA3203765DNAH5c.5196G>T (p.Ala1732=)
c.5151G>T (p.Ala1717=)
n.5403G>T
c.5304G>T (p.Ala1768=)
c.4209G>T (p.Ala1403=)
c.393G>T (p.Ala131=)
c.22-3008G>T (n.22-3008G>T)
c.3798G>T (p.Ala1266=)
n.5321G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844912C=CA1528465042DNAH5c.5196G= (p.Ala1732=)
c.5151G= (p.Ala1717=)
n.5403G=
c.5304G= (p.Ala1768=)
c.4209G= (p.Ala1403=)
c.393G= (p.Ala131=)
c.22-3008G= (n.22-3008G=)
c.3798G= (p.Ala1266=)
n.5321G=
5g.13844912C>GCA443258061DNAH5c.5196G>C (p.Ala1732=)
c.5151G>C (p.Ala1717=)
n.5403G>C
c.5304G>C (p.Ala1768=)
c.4209G>C (p.Ala1403=)
c.393G>C (p.Ala131=)
c.22-3008G>C (n.22-3008G>C)
c.3798G>C (p.Ala1266=)
n.5321G>C
 ClinVar dbSNP gnomAD v4
5g.13844912C>TCA3203764DNAH5c.5196G>A (p.Ala1732=)
c.5151G>A (p.Ala1717=)
n.5403G>A
c.5304G>A (p.Ala1768=)
c.4209G>A (p.Ala1403=)
c.393G>A (p.Ala131=)
c.22-3008G>A (n.22-3008G>A)
c.3798G>A (p.Ala1266=)
n.5321G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844913G>ACA113954606DNAH5c.5195C>T (p.Ala1732Val)
c.5150C>T (p.Ala1717Val)
n.5402C>T
c.5303C>T (p.Ala1768Val)
c.4208C>T (p.Ala1403Val)
c.392C>T (p.Ala131Val)
c.22-3009C>T (n.22-3009C>T)
c.3797C>T (p.Ala1266Val)
n.5320C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13844913G>CCA359214120DNAH5c.5195C>G (p.Ala1732Gly)
c.5150C>G (p.Ala1717Gly)
n.5402C>G
c.5303C>G (p.Ala1768Gly)
c.4208C>G (p.Ala1403Gly)
c.392C>G (p.Ala131Gly)
c.22-3009C>G (n.22-3009C>G)
c.3797C>G (p.Ala1266Gly)
n.5320C>G
5g.13844913G=CA1528465043DNAH5c.5195C= (p.Ala1732=)
c.5150C= (p.Ala1717=)
n.5402C=
c.5303C= (p.Ala1768=)
c.4208C= (p.Ala1403=)
c.392C= (p.Ala131=)
c.22-3009C= (n.22-3009C=)
c.3797C= (p.Ala1266=)
n.5320C=
5g.13844913G>TCA359214123DNAH5c.5195C>A (p.Ala1732Glu)
c.5150C>A (p.Ala1717Glu)
n.5402C>A
c.5303C>A (p.Ala1768Glu)
c.4208C>A (p.Ala1403Glu)
c.392C>A (p.Ala131Glu)
c.22-3009C>A (n.22-3009C>A)
c.3797C>A (p.Ala1266Glu)
n.5320C>A
5g.13844914C>ACA359214127DNAH5c.5194G>T (p.Ala1732Ser)
c.5149G>T (p.Ala1717Ser)
n.5401G>T
c.5302G>T (p.Ala1768Ser)
c.4207G>T (p.Ala1403Ser)
c.391G>T (p.Ala131Ser)
c.22-3010G>T (n.22-3010G>T)
c.3796G>T (p.Ala1266Ser)
n.5319G>T
5g.13844914C=CA1528465044DNAH5c.5194G= (p.Ala1732=)
c.5149G= (p.Ala1717=)
n.5401G=
c.5302G= (p.Ala1768=)
c.4207G= (p.Ala1403=)
c.391G= (p.Ala131=)
c.22-3010G= (n.22-3010G=)
c.3796G= (p.Ala1266=)
n.5319G=
5g.13844914C>GCA359214129DNAH5c.5194G>C (p.Ala1732Pro)
c.5149G>C (p.Ala1717Pro)
n.5401G>C
c.5302G>C (p.Ala1768Pro)
c.4207G>C (p.Ala1403Pro)
c.391G>C (p.Ala131Pro)
c.22-3010G>C (n.22-3010G>C)
c.3796G>C (p.Ala1266Pro)
n.5319G>C
 dbSNP gnomAD v4
5g.13844914C>TCA359214131DNAH5c.5194G>A (p.Ala1732Thr)
c.5149G>A (p.Ala1717Thr)
n.5401G>A
c.5302G>A (p.Ala1768Thr)
c.4207G>A (p.Ala1403Thr)
c.391G>A (p.Ala131Thr)
c.22-3010G>A (n.22-3010G>A)
c.3796G>A (p.Ala1266Thr)
n.5319G>A
5g.13844915delCA2499217636DNAH5c.5194del (p.Ala1732ArgfsTer12)
c.5149del (p.Ala1717ArgfsTer12)
n.5401del
c.5302del (p.Ala1768ArgfsTer12)
c.4207del (p.Ala1403ArgfsTer12)
c.391del (p.Ala131ArgfsTer12)
c.22-3010del (n.22-3010del)
c.3796del (p.Ala1266ArgfsTer12)
n.5319del
 ClinVar dbSNP
5g.13844915C>ACA359214133DNAH5c.5193G>T (p.Gln1731His)
c.5148G>T (p.Gln1716His)
n.5400G>T
c.5301G>T (p.Gln1767His)
c.4206G>T (p.Gln1402His)
c.390G>T (p.Gln130His)
c.22-3011G>T (n.22-3011G>T)
c.3795G>T (p.Gln1265His)
n.5318G>T
5g.13844915C>GCA359214134DNAH5c.5193G>C (p.Gln1731His)
c.5148G>C (p.Gln1716His)
n.5400G>C
c.5301G>C (p.Gln1767His)
c.4206G>C (p.Gln1402His)
c.390G>C (p.Gln130His)
c.22-3011G>C (n.22-3011G>C)
c.3795G>C (p.Gln1265His)
n.5318G>C
5g.13844915C>TCA443258081DNAH5c.5193G>A (p.Gln1731=)
c.5148G>A (p.Gln1716=)
n.5400G>A
c.5301G>A (p.Gln1767=)
c.4206G>A (p.Gln1402=)
c.390G>A (p.Gln130=)
c.22-3011G>A (n.22-3011G>A)
c.3795G>A (p.Gln1265=)
n.5318G>A
 ClinVar
5g.13844916T>ACA359214136DNAH5c.5192A>T (p.Gln1731Leu)
c.5147A>T (p.Gln1716Leu)
n.5399A>T
c.5300A>T (p.Gln1767Leu)
c.4205A>T (p.Gln1402Leu)
c.389A>T (p.Gln130Leu)
c.22-3012A>T (n.22-3012A>T)
c.3794A>T (p.Gln1265Leu)
n.5317A>T
5g.13844916T>CCA359214138DNAH5c.5192A>G (p.Gln1731Arg)
c.5147A>G (p.Gln1716Arg)
n.5399A>G
c.5300A>G (p.Gln1767Arg)
c.4205A>G (p.Gln1402Arg)
c.389A>G (p.Gln130Arg)
c.22-3012A>G (n.22-3012A>G)
c.3794A>G (p.Gln1265Arg)
n.5317A>G
5g.13844916T>GCA359214140DNAH5c.5192A>C (p.Gln1731Pro)
c.5147A>C (p.Gln1716Pro)
n.5399A>C
c.5300A>C (p.Gln1767Pro)
c.4205A>C (p.Gln1402Pro)
c.389A>C (p.Gln130Pro)
c.22-3012A>C (n.22-3012A>C)
c.3794A>C (p.Gln1265Pro)
n.5317A>C
5g.13844917G>ACA359214145DNAH5c.5191C>T (p.Gln1731Ter)
c.5146C>T (p.Gln1716Ter)
n.5398C>T
c.5299C>T (p.Gln1767Ter)
c.4204C>T (p.Gln1402Ter)
c.388C>T (p.Gln130Ter)
c.22-3013C>T (n.22-3013C>T)
c.3793C>T (p.Gln1265Ter)
n.5316C>T
 COSMIC
5g.13844917G>CCA359214143DNAH5c.5191C>G (p.Gln1731Glu)
c.5146C>G (p.Gln1716Glu)
n.5398C>G
c.5299C>G (p.Gln1767Glu)
c.4204C>G (p.Gln1402Glu)
c.388C>G (p.Gln130Glu)
c.22-3013C>G (n.22-3013C>G)
c.3793C>G (p.Gln1265Glu)
n.5316C>G
5g.13844917G>TCA359214142DNAH5c.5191C>A (p.Gln1731Lys)
c.5146C>A (p.Gln1716Lys)
n.5398C>A
c.5299C>A (p.Gln1767Lys)
c.4204C>A (p.Gln1402Lys)
c.388C>A (p.Gln130Lys)
c.22-3013C>A (n.22-3013C>A)
c.3793C>A (p.Gln1265Lys)
n.5316C>A
5g.13844918C>ACA3203766DNAH5c.5190G>T (p.Gly1730=)
c.5145G>T (p.Gly1715=)
n.5397G>T
c.5298G>T (p.Gly1766=)
c.4203G>T (p.Gly1401=)
c.387G>T (p.Gly129=)
c.22-3014G>T (n.22-3014G>T)
c.3792G>T (p.Gly1264=)
n.5315G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844918C=CA1528465045DNAH5c.5190G= (p.Gly1730=)
c.5145G= (p.Gly1715=)
n.5397G=
c.5298G= (p.Gly1766=)
c.4203G= (p.Gly1401=)
c.387G= (p.Gly129=)
c.22-3014G= (n.22-3014G=)
c.3792G= (p.Gly1264=)
n.5315G=
5g.13844918C>GCA443258092DNAH5c.5190G>C (p.Gly1730=)
c.5145G>C (p.Gly1715=)
n.5397G>C
c.5298G>C (p.Gly1766=)
c.4203G>C (p.Gly1401=)
c.387G>C (p.Gly129=)
c.22-3014G>C (n.22-3014G>C)
c.3792G>C (p.Gly1264=)
n.5315G>C
5g.13844918C>TCA443258093DNAH5c.5190G>A (p.Gly1730=)
c.5145G>A (p.Gly1715=)
n.5397G>A
c.5298G>A (p.Gly1766=)
c.4203G>A (p.Gly1401=)
c.387G>A (p.Gly129=)
c.22-3014G>A (n.22-3014G>A)
c.3792G>A (p.Gly1264=)
n.5315G>A
5g.13844919C>ACA359214147DNAH5c.5189G>T (p.Gly1730Val)
c.5144G>T (p.Gly1715Val)
n.5396G>T
c.5297G>T (p.Gly1766Val)
c.4202G>T (p.Gly1401Val)
c.386G>T (p.Gly129Val)
c.22-3015G>T (n.22-3015G>T)
c.3791G>T (p.Gly1264Val)
n.5314G>T
5g.13844919C>GCA359214150DNAH5c.5189G>C (p.Gly1730Ala)
c.5144G>C (p.Gly1715Ala)
n.5396G>C
c.5297G>C (p.Gly1766Ala)
c.4202G>C (p.Gly1401Ala)
c.386G>C (p.Gly129Ala)
c.22-3015G>C (n.22-3015G>C)
c.3791G>C (p.Gly1264Ala)
n.5314G>C
5g.13844919C>TCA359214153DNAH5c.5189G>A (p.Gly1730Glu)
c.5144G>A (p.Gly1715Glu)
n.5396G>A
c.5297G>A (p.Gly1766Glu)
c.4202G>A (p.Gly1401Glu)
c.386G>A (p.Gly129Glu)
c.22-3015G>A (n.22-3015G>A)
c.3791G>A (p.Gly1264Glu)
n.5314G>A
 gnomAD v4
5g.13844920C>ACA359214156DNAH5c.5188G>T (p.Gly1730Trp)
c.5143G>T (p.Gly1715Trp)
n.5395G>T
c.5296G>T (p.Gly1766Trp)
c.4201G>T (p.Gly1401Trp)
c.385G>T (p.Gly129Trp)
c.22-3016G>T (n.22-3016G>T)
c.3790G>T (p.Gly1264Trp)
n.5313G>T
5g.13844920C>GCA359214157DNAH5c.5188G>C (p.Gly1730Arg)
c.5143G>C (p.Gly1715Arg)
n.5395G>C
c.5296G>C (p.Gly1766Arg)
c.4201G>C (p.Gly1401Arg)
c.385G>C (p.Gly129Arg)
c.22-3016G>C (n.22-3016G>C)
c.3790G>C (p.Gly1264Arg)
n.5313G>C
5g.13844920C>TCA359214158DNAH5c.5188G>A (p.Gly1730Arg)
c.5143G>A (p.Gly1715Arg)
n.5395G>A
c.5296G>A (p.Gly1766Arg)
c.4201G>A (p.Gly1401Arg)
c.385G>A (p.Gly129Arg)
c.22-3016G>A (n.22-3016G>A)
c.3790G>A (p.Gly1264Arg)
n.5313G>A
5g.13844921C>ACA443258103DNAH5c.5187G>T (p.Leu1729=)
c.5142G>T (p.Leu1714=)
n.5394G>T
c.5295G>T (p.Leu1765=)
c.4200G>T (p.Leu1400=)
c.384G>T (p.Leu128=)
c.22-3017G>T (n.22-3017G>T)
c.3789G>T (p.Leu1263=)
n.5312G>T
5g.13844921C>GCA443258105DNAH5c.5187G>C (p.Leu1729=)
c.5142G>C (p.Leu1714=)
n.5394G>C
c.5295G>C (p.Leu1765=)
c.4200G>C (p.Leu1400=)
c.384G>C (p.Leu128=)
c.22-3017G>C (n.22-3017G>C)
c.3789G>C (p.Leu1263=)
n.5312G>C
5g.13844921C>TCA443258108DNAH5c.5187G>A (p.Leu1729=)
c.5142G>A (p.Leu1714=)
n.5394G>A
c.5295G>A (p.Leu1765=)
c.4200G>A (p.Leu1400=)
c.384G>A (p.Leu128=)
c.22-3017G>A (n.22-3017G>A)
c.3789G>A (p.Leu1263=)
n.5312G>A
 ClinVar dbSNP
5g.13844922A>CCA359214161DNAH5c.5186T>G (p.Leu1729Arg)
c.5141T>G (p.Leu1714Arg)
n.5393T>G
c.5294T>G (p.Leu1765Arg)
c.4199T>G (p.Leu1400Arg)
c.383T>G (p.Leu128Arg)
c.22-3018T>G (n.22-3018T>G)
c.3788T>G (p.Leu1263Arg)
n.5311T>G
5g.13844922A>GCA359214165DNAH5c.5186T>C (p.Leu1729Pro)
c.5141T>C (p.Leu1714Pro)
n.5393T>C
c.5294T>C (p.Leu1765Pro)
c.4199T>C (p.Leu1400Pro)
c.383T>C (p.Leu128Pro)
c.22-3018T>C (n.22-3018T>C)
c.3788T>C (p.Leu1263Pro)
n.5311T>C
5g.13844922A>TCA359214163DNAH5c.5186T>A (p.Leu1729Gln)
c.5141T>A (p.Leu1714Gln)
n.5393T>A
c.5294T>A (p.Leu1765Gln)
c.4199T>A (p.Leu1400Gln)
c.383T>A (p.Leu128Gln)
c.22-3018T>A (n.22-3018T>A)
c.3788T>A (p.Leu1263Gln)
n.5311T>A
5g.13844923G>ACA443258113DNAH5c.5185C>T (p.Leu1729=)
c.5140C>T (p.Leu1714=)
n.5392C>T
c.5293C>T (p.Leu1765=)
c.4198C>T (p.Leu1400=)
c.382C>T (p.Leu128=)
c.22-3019C>T (n.22-3019C>T)
c.3787C>T (p.Leu1263=)
n.5310C>T
5g.13844923G>CCA359214167DNAH5c.5185C>G (p.Leu1729Val)
c.5140C>G (p.Leu1714Val)
n.5392C>G
c.5293C>G (p.Leu1765Val)
c.4198C>G (p.Leu1400Val)
c.382C>G (p.Leu128Val)
c.22-3019C>G (n.22-3019C>G)
c.3787C>G (p.Leu1263Val)
n.5310C>G
5g.13844923G>TCA359214169DNAH5c.5185C>A (p.Leu1729Met)
c.5140C>A (p.Leu1714Met)
n.5392C>A
c.5293C>A (p.Leu1765Met)
c.4198C>A (p.Leu1400Met)
c.382C>A (p.Leu128Met)
c.22-3019C>A (n.22-3019C>A)
c.3787C>A (p.Leu1263Met)
n.5310C>A
5g.13844924A=CA1528465046DNAH5c.5184T= (p.Ile1728=)
c.5139T= (p.Ile1713=)
n.5391T=
c.5292T= (p.Ile1764=)
c.4197T= (p.Ile1399=)
c.381T= (p.Ile127=)
c.22-3020T= (n.22-3020T=)
c.3786T= (p.Ile1262=)
n.5309T=
5g.13844924A>CCA359214172DNAH5c.5184T>G (p.Ile1728Met)
c.5139T>G (p.Ile1713Met)
n.5391T>G
c.5292T>G (p.Ile1764Met)
c.4197T>G (p.Ile1399Met)
c.381T>G (p.Ile127Met)
c.22-3020T>G (n.22-3020T>G)
c.3786T>G (p.Ile1262Met)
n.5309T>G
5g.13844924A>GCA3203767DNAH5c.5184T>C (p.Ile1728=)
c.5139T>C (p.Ile1713=)
n.5391T>C
c.5292T>C (p.Ile1764=)
c.4197T>C (p.Ile1399=)
c.381T>C (p.Ile127=)
c.22-3020T>C (n.22-3020T>C)
c.3786T>C (p.Ile1262=)
n.5309T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844924A>TCA443258121DNAH5c.5184T>A (p.Ile1728=)
c.5139T>A (p.Ile1713=)
n.5391T>A
c.5292T>A (p.Ile1764=)
c.4197T>A (p.Ile1399=)
c.381T>A (p.Ile127=)
c.22-3020T>A (n.22-3020T>A)
c.3786T>A (p.Ile1262=)
n.5309T>A
5g.13844925A>CCA359214178DNAH5c.5183T>G (p.Ile1728Ser)
c.5138T>G (p.Ile1713Ser)
n.5390T>G
c.5291T>G (p.Ile1764Ser)
c.4196T>G (p.Ile1399Ser)
c.380T>G (p.Ile127Ser)
c.22-3021T>G (n.22-3021T>G)
c.3785T>G (p.Ile1262Ser)
n.5308T>G
5g.13844925A>GCA359214185DNAH5c.5183T>C (p.Ile1728Thr)
c.5138T>C (p.Ile1713Thr)
n.5390T>C
c.5291T>C (p.Ile1764Thr)
c.4196T>C (p.Ile1399Thr)
c.380T>C (p.Ile127Thr)
c.22-3021T>C (n.22-3021T>C)
c.3785T>C (p.Ile1262Thr)
n.5308T>C
5g.13844925A>TCA359214182DNAH5c.5183T>A (p.Ile1728Asn)
c.5138T>A (p.Ile1713Asn)
n.5390T>A
c.5291T>A (p.Ile1764Asn)
c.4196T>A (p.Ile1399Asn)
c.380T>A (p.Ile127Asn)
c.22-3021T>A (n.22-3021T>A)
c.3785T>A (p.Ile1262Asn)
n.5308T>A
5g.13844926T>ACA359214188DNAH5c.5182A>T (p.Ile1728Phe)
c.5137A>T (p.Ile1713Phe)
n.5389A>T
c.5290A>T (p.Ile1764Phe)
c.4195A>T (p.Ile1399Phe)
c.379A>T (p.Ile127Phe)
c.22-3022A>T (n.22-3022A>T)
c.3784A>T (p.Ile1262Phe)
n.5307A>T
5g.13844926T>CCA359214190DNAH5c.5182A>G (p.Ile1728Val)
c.5137A>G (p.Ile1713Val)
n.5389A>G
c.5290A>G (p.Ile1764Val)
c.4195A>G (p.Ile1399Val)
c.379A>G (p.Ile127Val)
c.22-3022A>G (n.22-3022A>G)
c.3784A>G (p.Ile1262Val)
n.5307A>G
5g.13844926T>GCA359214192DNAH5c.5182A>C (p.Ile1728Leu)
c.5137A>C (p.Ile1713Leu)
n.5389A>C
c.5290A>C (p.Ile1764Leu)
c.4195A>C (p.Ile1399Leu)
c.379A>C (p.Ile127Leu)
c.22-3022A>C (n.22-3022A>C)
c.3784A>C (p.Ile1262Leu)
n.5307A>C
5g.13844929_13844930delCA2580613522DNAH5c.5181_5182del (p.Glu1727AspfsTer20)
c.5136_5137del (p.Glu1712AspfsTer20)
n.5388_5389del
c.5289_5290del (p.Glu1763AspfsTer20)
c.4194_4195del (p.Glu1398AspfsTer20)
c.378_379del (p.Glu126AspfsTer20)
c.22-3023_22-3022del (n.22-3023_22-3022del)
c.3783_3784del (p.Glu1261AspfsTer20)
n.5306_5307del
 ClinVar
5g.13844927C>ACA359214194DNAH5c.5181G>T (p.Glu1727Asp)
c.5136G>T (p.Glu1712Asp)
n.5388G>T
c.5289G>T (p.Glu1763Asp)
c.4194G>T (p.Glu1398Asp)
c.378G>T (p.Glu126Asp)
c.22-3023G>T (n.22-3023G>T)
c.3783G>T (p.Glu1261Asp)
n.5306G>T
5g.13844927C>GCA359214195DNAH5c.5181G>C (p.Glu1727Asp)
c.5136G>C (p.Glu1712Asp)
n.5388G>C
c.5289G>C (p.Glu1763Asp)
c.4194G>C (p.Glu1398Asp)
c.378G>C (p.Glu126Asp)
c.22-3023G>C (n.22-3023G>C)
c.3783G>C (p.Glu1261Asp)
n.5306G>C
5g.13844927C>TCA443258134DNAH5c.5181G>A (p.Glu1727=)
c.5136G>A (p.Glu1712=)
n.5388G>A
c.5289G>A (p.Glu1763=)
c.4194G>A (p.Glu1398=)
c.378G>A (p.Glu126=)
c.22-3023G>A (n.22-3023G>A)
c.3783G>A (p.Glu1261=)
n.5306G>A
5g.13844928T>ACA359214197DNAH5c.5180A>T (p.Glu1727Val)
c.5135A>T (p.Glu1712Val)
n.5387A>T
c.5288A>T (p.Glu1763Val)
c.4193A>T (p.Glu1398Val)
c.377A>T (p.Glu126Val)
c.22-3024A>T (n.22-3024A>T)
c.3782A>T (p.Glu1261Val)
n.5305A>T
5g.13844928T>CCA359214200DNAH5c.5180A>G (p.Glu1727Gly)
c.5135A>G (p.Glu1712Gly)
n.5387A>G
c.5288A>G (p.Glu1763Gly)
c.4193A>G (p.Glu1398Gly)
c.377A>G (p.Glu126Gly)
c.22-3024A>G (n.22-3024A>G)
c.3782A>G (p.Glu1261Gly)
n.5305A>G
 gnomAD v4
5g.13844928T>GCA359214203DNAH5c.5180A>C (p.Glu1727Ala)
c.5135A>C (p.Glu1712Ala)
n.5387A>C
c.5288A>C (p.Glu1763Ala)
c.4193A>C (p.Glu1398Ala)
c.377A>C (p.Glu126Ala)
c.22-3024A>C (n.22-3024A>C)
c.3782A>C (p.Glu1261Ala)
n.5305A>C
5g.13844929C>ACA359214205DNAH5c.5179G>T (p.Glu1727Ter)
c.5134G>T (p.Glu1712Ter)
n.5386G>T
c.5287G>T (p.Glu1763Ter)
c.4192G>T (p.Glu1398Ter)
c.376G>T (p.Glu126Ter)
c.22-3025G>T (n.22-3025G>T)
c.3781G>T (p.Glu1261Ter)
n.5304G>T
5g.13844929C=CA1528465047DNAH5c.5179G= (p.Glu1727=)
c.5134G= (p.Glu1712=)
n.5386G=
c.5287G= (p.Glu1763=)
c.4192G= (p.Glu1398=)
c.376G= (p.Glu126=)
c.22-3025G= (n.22-3025G=)
c.3781G= (p.Glu1261=)
n.5304G=
5g.13844929C>GCA359214207DNAH5c.5179G>C (p.Glu1727Gln)
c.5134G>C (p.Glu1712Gln)
n.5386G>C
c.5287G>C (p.Glu1763Gln)
c.4192G>C (p.Glu1398Gln)
c.376G>C (p.Glu126Gln)
c.22-3025G>C (n.22-3025G>C)
c.3781G>C (p.Glu1261Gln)
n.5304G>C
 COSMIC
5g.13844929C>TCA359214209DNAH5c.5179G>A (p.Glu1727Lys)
c.5134G>A (p.Glu1712Lys)
n.5386G>A
c.5287G>A (p.Glu1763Lys)
c.4192G>A (p.Glu1398Lys)
c.376G>A (p.Glu126Lys)
c.22-3025G>A (n.22-3025G>A)
c.3781G>A (p.Glu1261Lys)
n.5304G>A
 dbSNP gnomAD v4
5g.13844930T>ACA443258144DNAH5c.5178A>T (p.Leu1726=)
c.5133A>T (p.Leu1711=)
n.5385A>T
c.5286A>T (p.Leu1762=)
c.4191A>T (p.Leu1397=)
c.375A>T (p.Leu125=)
c.22-3026A>T (n.22-3026A>T)
c.3780A>T (p.Leu1260=)
n.5303A>T
5g.13844930T>CCA3203768DNAH5c.5178A>G (p.Leu1726=)
c.5133A>G (p.Leu1711=)
n.5385A>G
c.5286A>G (p.Leu1762=)
c.4191A>G (p.Leu1397=)
c.375A>G (p.Leu125=)
c.22-3026A>G (n.22-3026A>G)
c.3780A>G (p.Leu1260=)
n.5303A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844930T>GCA443258148DNAH5c.5178A>C (p.Leu1726=)
c.5133A>C (p.Leu1711=)
n.5385A>C
c.5286A>C (p.Leu1762=)
c.4191A>C (p.Leu1397=)
c.375A>C (p.Leu125=)
c.22-3026A>C (n.22-3026A>C)
c.3780A>C (p.Leu1260=)
n.5303A>C
5g.13844930T=CA1528465048DNAH5c.5178A= (p.Leu1726=)
c.5133A= (p.Leu1711=)
n.5385A=
c.5286A= (p.Leu1762=)
c.4191A= (p.Leu1397=)
c.375A= (p.Leu125=)
c.22-3026A= (n.22-3026A=)
c.3780A= (p.Leu1260=)
n.5303A=
5g.13844931A=CA1528465049DNAH5c.5177T= (p.Leu1726=)
c.5132T= (p.Leu1711=)
n.5384T=
c.5285T= (p.Leu1762=)
c.4190T= (p.Leu1397=)
c.374T= (p.Leu125=)
c.22-3027T= (n.22-3027T=)
c.3779T= (p.Leu1260=)
n.5302T=
5g.13844931A>CCA359214213DNAH5c.5177T>G (p.Leu1726Arg)
c.5132T>G (p.Leu1711Arg)
n.5384T>G
c.5285T>G (p.Leu1762Arg)
c.4190T>G (p.Leu1397Arg)
c.374T>G (p.Leu125Arg)
c.22-3027T>G (n.22-3027T>G)
c.3779T>G (p.Leu1260Arg)
n.5302T>G
5g.13844931A>GCA3203769DNAH5c.5177T>C (p.Leu1726Pro)
c.5132T>C (p.Leu1711Pro)
n.5384T>C
c.5285T>C (p.Leu1762Pro)
c.4190T>C (p.Leu1397Pro)
c.374T>C (p.Leu125Pro)
c.22-3027T>C (n.22-3027T>C)
c.3779T>C (p.Leu1260Pro)
n.5302T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844931A>TCA359214215DNAH5c.5177T>A (p.Leu1726Gln)
c.5132T>A (p.Leu1711Gln)
n.5384T>A
c.5285T>A (p.Leu1762Gln)
c.4190T>A (p.Leu1397Gln)
c.374T>A (p.Leu125Gln)
c.22-3027T>A (n.22-3027T>A)
c.3779T>A (p.Leu1260Gln)
n.5302T>A
5g.13844932G>ACA443258155DNAH5c.5176C>T (p.Leu1726=)
c.5131C>T (p.Leu1711=)
n.5383C>T
c.5284C>T (p.Leu1762=)
c.4189C>T (p.Leu1397=)
c.373C>T (p.Leu125=)
c.22-3028C>T (n.22-3028C>T)
c.3778C>T (p.Leu1260=)
n.5301C>T
5g.13844932G>CCA3203770DNAH5c.5176C>G (p.Leu1726Val)
c.5131C>G (p.Leu1711Val)
n.5383C>G
c.5284C>G (p.Leu1762Val)
c.4189C>G (p.Leu1397Val)
c.373C>G (p.Leu125Val)
c.22-3028C>G (n.22-3028C>G)
c.3778C>G (p.Leu1260Val)
n.5301C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844932G=CA1528465050DNAH5c.5176C= (p.Leu1726=)
c.5131C= (p.Leu1711=)
n.5383C=
c.5284C= (p.Leu1762=)
c.4189C= (p.Leu1397=)
c.373C= (p.Leu125=)
c.22-3028C= (n.22-3028C=)
c.3778C= (p.Leu1260=)
n.5301C=
5g.13844932G>TCA359214220DNAH5c.5176C>A (p.Leu1726Ile)
c.5131C>A (p.Leu1711Ile)
n.5383C>A
c.5284C>A (p.Leu1762Ile)
c.4189C>A (p.Leu1397Ile)
c.373C>A (p.Leu125Ile)
c.22-3028C>A (n.22-3028C>A)
c.3778C>A (p.Leu1260Ile)
n.5301C>A
5g.13844933A>CCA443258157DNAH5c.5175T>G (p.Leu1725=)
c.5130T>G (p.Leu1710=)
n.5382T>G
c.5283T>G (p.Leu1761=)
c.4188T>G (p.Leu1396=)
c.372T>G (p.Leu124=)
c.22-3029T>G (n.22-3029T>G)
c.3777T>G (p.Leu1259=)
n.5300T>G
 gnomAD v4
5g.13844933A>GCA443258158DNAH5c.5175T>C (p.Leu1725=)
c.5130T>C (p.Leu1710=)
n.5382T>C
c.5283T>C (p.Leu1761=)
c.4188T>C (p.Leu1396=)
c.372T>C (p.Leu124=)
c.22-3029T>C (n.22-3029T>C)
c.3777T>C (p.Leu1259=)
n.5300T>C
5g.13844933A>TCA443258160DNAH5c.5175T>A (p.Leu1725=)
c.5130T>A (p.Leu1710=)
n.5382T>A
c.5283T>A (p.Leu1761=)
c.4188T>A (p.Leu1396=)
c.372T>A (p.Leu124=)
c.22-3029T>A (n.22-3029T>A)
c.3777T>A (p.Leu1259=)
n.5300T>A
5g.13844934A>CCA359214222DNAH5c.5174T>G (p.Leu1725Arg)
c.5129T>G (p.Leu1710Arg)
n.5381T>G
c.5282T>G (p.Leu1761Arg)
c.4187T>G (p.Leu1396Arg)
c.371T>G (p.Leu124Arg)
c.22-3030T>G (n.22-3030T>G)
c.3776T>G (p.Leu1259Arg)
n.5299T>G
5g.13844934A>GCA359214223DNAH5c.5174T>C (p.Leu1725Pro)
c.5129T>C (p.Leu1710Pro)
n.5381T>C
c.5282T>C (p.Leu1761Pro)
c.4187T>C (p.Leu1396Pro)
c.371T>C (p.Leu124Pro)
c.22-3030T>C (n.22-3030T>C)
c.3776T>C (p.Leu1259Pro)
n.5299T>C
5g.13844934A>TCA359214224DNAH5c.5174T>A (p.Leu1725His)
c.5129T>A (p.Leu1710His)
n.5381T>A
c.5282T>A (p.Leu1761His)
c.4187T>A (p.Leu1396His)
c.371T>A (p.Leu124His)
c.22-3030T>A (n.22-3030T>A)
c.3776T>A (p.Leu1259His)
n.5299T>A
5g.13844935G>ACA359214226DNAH5c.5173C>T (p.Leu1725Phe)
c.5128C>T (p.Leu1710Phe)
n.5380C>T
c.5281C>T (p.Leu1761Phe)
c.4186C>T (p.Leu1396Phe)
c.370C>T (p.Leu124Phe)
c.22-3031C>T (n.22-3031C>T)
c.3775C>T (p.Leu1259Phe)
n.5298C>T
5g.13844935G>CCA359214228DNAH5c.5173C>G (p.Leu1725Val)
c.5128C>G (p.Leu1710Val)
n.5380C>G
c.5281C>G (p.Leu1761Val)
c.4186C>G (p.Leu1396Val)
c.370C>G (p.Leu124Val)
c.22-3031C>G (n.22-3031C>G)
c.3775C>G (p.Leu1259Val)
n.5298C>G
5g.13844935G>TCA359214231DNAH5c.5173C>A (p.Leu1725Ile)
c.5128C>A (p.Leu1710Ile)
n.5380C>A
c.5281C>A (p.Leu1761Ile)
c.4186C>A (p.Leu1396Ile)
c.370C>A (p.Leu124Ile)
c.22-3031C>A (n.22-3031C>A)
c.3775C>A (p.Leu1259Ile)
n.5298C>A
5g.13844936G>ACA182933DNAH5c.5172C>T (p.Ala1724=)
c.5127C>T (p.Ala1709=)
n.5379C>T
c.5280C>T (p.Ala1760=)
c.4185C>T (p.Ala1395=)
c.369C>T (p.Ala123=)
c.22-3032C>T (n.22-3032C>T)
c.3774C>T (p.Ala1258=)
n.5297C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844936G>CCA443258170DNAH5c.5172C>G (p.Ala1724=)
c.5127C>G (p.Ala1709=)
n.5379C>G
c.5280C>G (p.Ala1760=)
c.4185C>G (p.Ala1395=)
c.369C>G (p.Ala123=)
c.22-3032C>G (n.22-3032C>G)
c.3774C>G (p.Ala1258=)
n.5297C>G
 dbSNP
5g.13844936G=CA1528465051DNAH5c.5172C= (p.Ala1724=)
c.5127C= (p.Ala1709=)
n.5379C=
c.5280C= (p.Ala1760=)
c.4185C= (p.Ala1395=)
c.369C= (p.Ala123=)
c.22-3032C= (n.22-3032C=)
c.3774C= (p.Ala1258=)
n.5297C=
5g.13844936G>TCA3203771DNAH5c.5172C>A (p.Ala1724=)
c.5127C>A (p.Ala1709=)
n.5379C>A
c.5280C>A (p.Ala1760=)
c.4185C>A (p.Ala1395=)
c.369C>A (p.Ala123=)
c.22-3032C>A (n.22-3032C>A)
c.3774C>A (p.Ala1258=)
n.5297C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844937G>ACA359214236DNAH5c.5171C>T (p.Ala1724Val)
c.5126C>T (p.Ala1709Val)
n.5378C>T
c.5279C>T (p.Ala1760Val)
c.4184C>T (p.Ala1395Val)
c.368C>T (p.Ala123Val)
c.22-3033C>T (n.22-3033C>T)
c.3773C>T (p.Ala1258Val)
n.5296C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13844937G>CCA359214239DNAH5c.5171C>G (p.Ala1724Gly)
c.5126C>G (p.Ala1709Gly)
n.5378C>G
c.5279C>G (p.Ala1760Gly)
c.4184C>G (p.Ala1395Gly)
c.368C>G (p.Ala123Gly)
c.22-3033C>G (n.22-3033C>G)
c.3773C>G (p.Ala1258Gly)
n.5296C>G
5g.13844937G=CA1528465052DNAH5c.5171C= (p.Ala1724=)
c.5126C= (p.Ala1709=)
n.5378C=
c.5279C= (p.Ala1760=)
c.4184C= (p.Ala1395=)
c.368C= (p.Ala123=)
c.22-3033C= (n.22-3033C=)
c.3773C= (p.Ala1258=)
n.5296C=
5g.13844937G>TCA359214242DNAH5c.5171C>A (p.Ala1724Asp)
c.5126C>A (p.Ala1709Asp)
n.5378C>A
c.5279C>A (p.Ala1760Asp)
c.4184C>A (p.Ala1395Asp)
c.368C>A (p.Ala123Asp)
c.22-3033C>A (n.22-3033C>A)
c.3773C>A (p.Ala1258Asp)
n.5296C>A
5g.13844938C>ACA359214248DNAH5c.5170G>T (p.Ala1724Ser)
c.5125G>T (p.Ala1709Ser)
n.5377G>T
c.5278G>T (p.Ala1760Ser)
c.4183G>T (p.Ala1395Ser)
c.367G>T (p.Ala123Ser)
c.22-3034G>T (n.22-3034G>T)
c.3772G>T (p.Ala1258Ser)
n.5295G>T
5g.13844938C>GCA359214244DNAH5c.5170G>C (p.Ala1724Pro)
c.5125G>C (p.Ala1709Pro)
n.5377G>C
c.5278G>C (p.Ala1760Pro)
c.4183G>C (p.Ala1395Pro)
c.367G>C (p.Ala123Pro)
c.22-3034G>C (n.22-3034G>C)
c.3772G>C (p.Ala1258Pro)
n.5295G>C
5g.13844938C>TCA359214246DNAH5c.5170G>A (p.Ala1724Thr)
c.5125G>A (p.Ala1709Thr)
n.5377G>A
c.5278G>A (p.Ala1760Thr)
c.4183G>A (p.Ala1395Thr)
c.367G>A (p.Ala123Thr)
c.22-3034G>A (n.22-3034G>A)
c.3772G>A (p.Ala1258Thr)
n.5295G>A
5g.13844939A>CCA443258178DNAH5c.5169T>G (p.Pro1723=)
c.5124T>G (p.Pro1708=)
n.5376T>G
c.5277T>G (p.Pro1759=)
c.4182T>G (p.Pro1394=)
c.366T>G (p.Pro122=)
c.22-3035T>G (n.22-3035T>G)
c.3771T>G (p.Pro1257=)
n.5294T>G
5g.13844939A>GCA443258181DNAH5c.5169T>C (p.Pro1723=)
c.5124T>C (p.Pro1708=)
n.5376T>C
c.5277T>C (p.Pro1759=)
c.4182T>C (p.Pro1394=)
c.366T>C (p.Pro122=)
c.22-3035T>C (n.22-3035T>C)
c.3771T>C (p.Pro1257=)
n.5294T>C
 gnomAD v4
5g.13844939A>TCA443258180DNAH5c.5169T>A (p.Pro1723=)
c.5124T>A (p.Pro1708=)
n.5376T>A
c.5277T>A (p.Pro1759=)
c.4182T>A (p.Pro1394=)
c.366T>A (p.Pro122=)
c.22-3035T>A (n.22-3035T>A)
c.3771T>A (p.Pro1257=)
n.5294T>A
 gnomAD v4
5g.13844940G>ACA359214249DNAH5c.5168C>T (p.Pro1723Leu)
c.5123C>T (p.Pro1708Leu)
n.5375C>T
c.5276C>T (p.Pro1759Leu)
c.4181C>T (p.Pro1394Leu)
c.365C>T (p.Pro122Leu)
c.22-3036C>T (n.22-3036C>T)
c.3770C>T (p.Pro1257Leu)
n.5293C>T
 gnomAD v4
5g.13844940G>CCA359214252DNAH5c.5168C>G (p.Pro1723Arg)
c.5123C>G (p.Pro1708Arg)
n.5375C>G
c.5276C>G (p.Pro1759Arg)
c.4181C>G (p.Pro1394Arg)
c.365C>G (p.Pro122Arg)
c.22-3036C>G (n.22-3036C>G)
c.3770C>G (p.Pro1257Arg)
n.5293C>G
5g.13844940G>TCA359214254DNAH5c.5168C>A (p.Pro1723His)
c.5123C>A (p.Pro1708His)
n.5375C>A
c.5276C>A (p.Pro1759His)
c.4181C>A (p.Pro1394His)
c.365C>A (p.Pro122His)
c.22-3036C>A (n.22-3036C>A)
c.3770C>A (p.Pro1257His)
n.5293C>A
5g.13844941G>ACA359214257DNAH5c.5167C>T (p.Pro1723Ser)
c.5122C>T (p.Pro1708Ser)
n.5374C>T
c.5275C>T (p.Pro1759Ser)
c.4180C>T (p.Pro1394Ser)
c.364C>T (p.Pro122Ser)
c.22-3037C>T (n.22-3037C>T)
c.3769C>T (p.Pro1257Ser)
n.5292C>T
5g.13844941G>CCA3203772DNAH5c.5167C>G (p.Pro1723Ala)
c.5122C>G (p.Pro1708Ala)
n.5374C>G
c.5275C>G (p.Pro1759Ala)
c.4180C>G (p.Pro1394Ala)
c.364C>G (p.Pro122Ala)
c.22-3037C>G (n.22-3037C>G)
c.3769C>G (p.Pro1257Ala)
n.5292C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844941G=CA1528465053DNAH5c.5167C= (p.Pro1723=)
c.5122C= (p.Pro1708=)
n.5374C=
c.5275C= (p.Pro1759=)
c.4180C= (p.Pro1394=)
c.364C= (p.Pro122=)
c.22-3037C= (n.22-3037C=)
c.3769C= (p.Pro1257=)
n.5292C=
5g.13844941G>TCA359214261DNAH5c.5167C>A (p.Pro1723Thr)
c.5122C>A (p.Pro1708Thr)
n.5374C>A
c.5275C>A (p.Pro1759Thr)
c.4180C>A (p.Pro1394Thr)
c.364C>A (p.Pro122Thr)
c.22-3037C>A (n.22-3037C>A)
c.3769C>A (p.Pro1257Thr)
n.5292C>A
 gnomAD v4
5g.13844942A>CCA359214264DNAH5c.5166T>G (p.Asp1722Glu)
c.5121T>G (p.Asp1707Glu)
n.5373T>G
c.5274T>G (p.Asp1758Glu)
c.4179T>G (p.Asp1393Glu)
c.363T>G (p.Asp121Glu)
c.22-3038T>G (n.22-3038T>G)
c.3768T>G (p.Asp1256Glu)
n.5291T>G
5g.13844942A>GCA443258189DNAH5c.5166T>C (p.Asp1722=)
c.5121T>C (p.Asp1707=)
n.5373T>C
c.5274T>C (p.Asp1758=)
c.4179T>C (p.Asp1393=)
c.363T>C (p.Asp121=)
c.22-3038T>C (n.22-3038T>C)
c.3768T>C (p.Asp1256=)
n.5291T>C
5g.13844942A>TCA359214266DNAH5c.5166T>A (p.Asp1722Glu)
c.5121T>A (p.Asp1707Glu)
n.5373T>A
c.5274T>A (p.Asp1758Glu)
c.4179T>A (p.Asp1393Glu)
c.363T>A (p.Asp121Glu)
c.22-3038T>A (n.22-3038T>A)
c.3768T>A (p.Asp1256Glu)
n.5291T>A
5g.13844943T>ACA359214269DNAH5c.5165A>T (p.Asp1722Val)
c.5120A>T (p.Asp1707Val)
n.5372A>T
c.5273A>T (p.Asp1758Val)
c.4178A>T (p.Asp1393Val)
c.362A>T (p.Asp121Val)
c.22-3039A>T (n.22-3039A>T)
c.3767A>T (p.Asp1256Val)
n.5290A>T
5g.13844943T>CCA113954648DNAH5c.5165A>G (p.Asp1722Gly)
c.5120A>G (p.Asp1707Gly)
n.5372A>G
c.5273A>G (p.Asp1758Gly)
c.4178A>G (p.Asp1393Gly)
c.362A>G (p.Asp121Gly)
c.22-3039A>G (n.22-3039A>G)
c.3767A>G (p.Asp1256Gly)
n.5290A>G
 dbSNP
5g.13844943T>GCA359214272DNAH5c.5165A>C (p.Asp1722Ala)
c.5120A>C (p.Asp1707Ala)
n.5372A>C
c.5273A>C (p.Asp1758Ala)
c.4178A>C (p.Asp1393Ala)
c.362A>C (p.Asp121Ala)
c.22-3039A>C (n.22-3039A>C)
c.3767A>C (p.Asp1256Ala)
n.5290A>C
5g.13844943T=CA1528465054DNAH5c.5165A= (p.Asp1722=)
c.5120A= (p.Asp1707=)
n.5372A=
c.5273A= (p.Asp1758=)
c.4178A= (p.Asp1393=)
c.362A= (p.Asp121=)
c.22-3039A= (n.22-3039A=)
c.3767A= (p.Asp1256=)
n.5290A=
5g.13844944C>ACA359214278DNAH5c.5164G>T (p.Asp1722Tyr)
c.5119G>T (p.Asp1707Tyr)
n.5371G>T
c.5272G>T (p.Asp1758Tyr)
c.4177G>T (p.Asp1393Tyr)
c.361G>T (p.Asp121Tyr)
c.22-3040G>T (n.22-3040G>T)
c.3766G>T (p.Asp1256Tyr)
n.5289G>T
5g.13844944C>GCA359214281DNAH5c.5164G>C (p.Asp1722His)
c.5119G>C (p.Asp1707His)
n.5371G>C
c.5272G>C (p.Asp1758His)
c.4177G>C (p.Asp1393His)
c.361G>C (p.Asp121His)
c.22-3040G>C (n.22-3040G>C)
c.3766G>C (p.Asp1256His)
n.5289G>C
5g.13844944C>TCA359214275DNAH5c.5164G>A (p.Asp1722Asn)
c.5119G>A (p.Asp1707Asn)
n.5371G>A
c.5272G>A (p.Asp1758Asn)
c.4177G>A (p.Asp1393Asn)
c.361G>A (p.Asp121Asn)
c.22-3040G>A (n.22-3040G>A)
c.3766G>A (p.Asp1256Asn)
n.5289G>A
5g.13844945T>ACA443258203DNAH5c.5163A>T (p.Ser1721=)
c.5118A>T (p.Ser1706=)
n.5370A>T
c.5271A>T (p.Ser1757=)
c.4176A>T (p.Ser1392=)
c.360A>T (p.Ser120=)
c.22-3041A>T (n.22-3041A>T)
c.3765A>T (p.Ser1255=)
n.5288A>T
 dbSNP gnomAD v2
5g.13844945T>CCA443258206DNAH5c.5163A>G (p.Ser1721=)
c.5118A>G (p.Ser1706=)
n.5370A>G
c.5271A>G (p.Ser1757=)
c.4176A>G (p.Ser1392=)
c.360A>G (p.Ser120=)
c.22-3041A>G (n.22-3041A>G)
c.3765A>G (p.Ser1255=)
n.5288A>G
 dbSNP
5g.13844945T>GCA443258208DNAH5c.5163A>C (p.Ser1721=)
c.5118A>C (p.Ser1706=)
n.5370A>C
c.5271A>C (p.Ser1757=)
c.4176A>C (p.Ser1392=)
c.360A>C (p.Ser120=)
c.22-3041A>C (n.22-3041A>C)
c.3765A>C (p.Ser1255=)
n.5288A>C
5g.13844945T=CA1528465055DNAH5c.5163A= (p.Ser1721=)
c.5118A= (p.Ser1706=)
n.5370A=
c.5271A= (p.Ser1757=)
c.4176A= (p.Ser1392=)
c.360A= (p.Ser120=)
c.22-3041A= (n.22-3041A=)
c.3765A= (p.Ser1255=)
n.5288A=
5g.13844946G>ACA359214284DNAH5c.5162C>T (p.Ser1721Leu)
c.5117C>T (p.Ser1706Leu)
n.5369C>T
c.5270C>T (p.Ser1757Leu)
c.4175C>T (p.Ser1392Leu)
c.359C>T (p.Ser120Leu)
c.22-3042C>T (n.22-3042C>T)
c.3764C>T (p.Ser1255Leu)
n.5287C>T
5g.13844946G>CCA359214286DNAH5c.5162C>G (p.Ser1721Ter)
c.5117C>G (p.Ser1706Ter)
n.5369C>G
c.5270C>G (p.Ser1757Ter)
c.4175C>G (p.Ser1392Ter)
c.359C>G (p.Ser120Ter)
c.22-3042C>G (n.22-3042C>G)
c.3764C>G (p.Ser1255Ter)
n.5287C>G
 ClinVar dbSNP
5g.13844946G=CA1528465056DNAH5c.5162C= (p.Ser1721=)
c.5117C= (p.Ser1706=)
n.5369C=
c.5270C= (p.Ser1757=)
c.4175C= (p.Ser1392=)
c.359C= (p.Ser120=)
c.22-3042C= (n.22-3042C=)
c.3764C= (p.Ser1255=)
n.5287C=
5g.13844946G>TCA359214288DNAH5c.5162C>A (p.Ser1721Ter)
c.5117C>A (p.Ser1706Ter)
n.5369C>A
c.5270C>A (p.Ser1757Ter)
c.4175C>A (p.Ser1392Ter)
c.359C>A (p.Ser120Ter)
c.22-3042C>A (n.22-3042C>A)
c.3764C>A (p.Ser1255Ter)
n.5287C>A
5g.13844947A>CCA359214290DNAH5c.5161T>G (p.Ser1721Ala)
c.5116T>G (p.Ser1706Ala)
n.5368T>G
c.5269T>G (p.Ser1757Ala)
c.4174T>G (p.Ser1392Ala)
c.358T>G (p.Ser120Ala)
c.22-3043T>G (n.22-3043T>G)
c.3763T>G (p.Ser1255Ala)
n.5286T>G
5g.13844947A>GCA359214292DNAH5c.5161T>C (p.Ser1721Pro)
c.5116T>C (p.Ser1706Pro)
n.5368T>C
c.5269T>C (p.Ser1757Pro)
c.4174T>C (p.Ser1392Pro)
c.358T>C (p.Ser120Pro)
c.22-3043T>C (n.22-3043T>C)
c.3763T>C (p.Ser1255Pro)
n.5286T>C
5g.13844947A>TCA359214293DNAH5c.5161T>A (p.Ser1721Thr)
c.5116T>A (p.Ser1706Thr)
n.5368T>A
c.5269T>A (p.Ser1757Thr)
c.4174T>A (p.Ser1392Thr)
c.358T>A (p.Ser120Thr)
c.22-3043T>A (n.22-3043T>A)
c.3763T>A (p.Ser1255Thr)
n.5286T>A
5g.13844948G>ACA443258219DNAH5c.5160C>T (p.Val1720=)
c.5115C>T (p.Val1705=)
n.5367C>T
c.5268C>T (p.Val1756=)
c.4173C>T (p.Val1391=)
c.357C>T (p.Val119=)
c.22-3044C>T (n.22-3044C>T)
c.3762C>T (p.Val1254=)
n.5285C>T
5g.13844948G>CCA443258220DNAH5c.5160C>G (p.Val1720=)
c.5115C>G (p.Val1705=)
n.5367C>G
c.5268C>G (p.Val1756=)
c.4173C>G (p.Val1391=)
c.357C>G (p.Val119=)
c.22-3044C>G (n.22-3044C>G)
c.3762C>G (p.Val1254=)
n.5285C>G
 ClinVar
5g.13844948G>TCA443258222DNAH5c.5160C>A (p.Val1720=)
c.5115C>A (p.Val1705=)
n.5367C>A
c.5268C>A (p.Val1756=)
c.4173C>A (p.Val1391=)
c.357C>A (p.Val119=)
c.22-3044C>A (n.22-3044C>A)
c.3762C>A (p.Val1254=)
n.5285C>A
5g.13844949A>CCA359214296DNAH5c.5159T>G (p.Val1720Gly)
c.5114T>G (p.Val1705Gly)
n.5366T>G
c.5267T>G (p.Val1756Gly)
c.4172T>G (p.Val1391Gly)
c.356T>G (p.Val119Gly)
c.22-3045T>G (n.22-3045T>G)
c.3761T>G (p.Val1254Gly)
n.5284T>G
5g.13844949A>GCA359214299DNAH5c.5159T>C (p.Val1720Ala)
c.5114T>C (p.Val1705Ala)
n.5366T>C
c.5267T>C (p.Val1756Ala)
c.4172T>C (p.Val1391Ala)
c.356T>C (p.Val119Ala)
c.22-3045T>C (n.22-3045T>C)
c.3761T>C (p.Val1254Ala)
n.5284T>C
5g.13844949A>TCA359214301DNAH5c.5159T>A (p.Val1720Asp)
c.5114T>A (p.Val1705Asp)
n.5366T>A
c.5267T>A (p.Val1756Asp)
c.4172T>A (p.Val1391Asp)
c.356T>A (p.Val119Asp)
c.22-3045T>A (n.22-3045T>A)
c.3761T>A (p.Val1254Asp)
n.5284T>A
5g.13844950C>ACA359214303DNAH5c.5158G>T (p.Val1720Phe)
c.5113G>T (p.Val1705Phe)
n.5365G>T
c.5266G>T (p.Val1756Phe)
c.4171G>T (p.Val1391Phe)
c.355G>T (p.Val119Phe)
c.22-3046G>T (n.22-3046G>T)
c.3760G>T (p.Val1254Phe)
n.5283G>T
5g.13844950C=CA1528465057DNAH5c.5158G= (p.Val1720=)
c.5113G= (p.Val1705=)
n.5365G=
c.5266G= (p.Val1756=)
c.4171G= (p.Val1391=)
c.355G= (p.Val119=)
c.22-3046G= (n.22-3046G=)
c.3760G= (p.Val1254=)
n.5283G=
5g.13844950C>GCA359214305DNAH5c.5158G>C (p.Val1720Leu)
c.5113G>C (p.Val1705Leu)
n.5365G>C
c.5266G>C (p.Val1756Leu)
c.4171G>C (p.Val1391Leu)
c.355G>C (p.Val119Leu)
c.22-3046G>C (n.22-3046G>C)
c.3760G>C (p.Val1254Leu)
n.5283G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13844950C>TCA3203773DNAH5c.5158G>A (p.Val1720Ile)
c.5113G>A (p.Val1705Ile)
n.5365G>A
c.5266G>A (p.Val1756Ile)
c.4171G>A (p.Val1391Ile)
c.355G>A (p.Val119Ile)
c.22-3046G>A (n.22-3046G>A)
c.3760G>A (p.Val1254Ile)
n.5283G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13844951G>ACA3203774DNAH5c.5157C>T (p.Phe1719=)
c.5112C>T (p.Phe1704=)
n.5364C>T
c.5265C>T (p.Phe1755=)
c.4170C>T (p.Phe1390=)
c.354C>T (p.Phe118=)
c.22-3047C>T (n.22-3047C>T)
c.3759C>T (p.Phe1253=)
n.5282C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13844951G>CCA359214310DNAH5c.5157C>G (p.Phe1719Leu)
c.5112C>G (p.Phe1704Leu)
n.5364C>G
c.5265C>G (p.Phe1755Leu)
c.4170C>G (p.Phe1390Leu)
c.354C>G (p.Phe118Leu)
c.22-3047C>G (n.22-3047C>G)
c.3759C>G (p.Phe1253Leu)
n.5282C>G
5g.13844951G=CA1528465058DNAH5c.5157C= (p.Phe1719=)
c.5112C= (p.Phe1704=)
n.5364C=
c.5265C= (p.Phe1755=)
c.4170C= (p.Phe1390=)
c.354C= (p.Phe118=)
c.22-3047C= (n.22-3047C=)
c.3759C= (p.Phe1253=)
n.5282C=
5g.13844951G>TCA359214308DNAH5c.5157C>A (p.Phe1719Leu)
c.5112C>A (p.Phe1704Leu)
n.5364C>A
c.5265C>A (p.Phe1755Leu)
c.4170C>A (p.Phe1390Leu)
c.354C>A (p.Phe118Leu)
c.22-3047C>A (n.22-3047C>A)
c.3759C>A (p.Phe1253Leu)
n.5282C>A
5g.13844952A>CCA359214313DNAH5c.5156T>G (p.Phe1719Cys)
c.5111T>G (p.Phe1704Cys)
n.5363T>G
c.5264T>G (p.Phe1755Cys)
c.4169T>G (p.Phe1390Cys)
c.353T>G (p.Phe118Cys)
c.22-3048T>G (n.22-3048T>G)
c.3758T>G (p.Phe1253Cys)
n.5281T>G
5g.13844952A>GCA359214315DNAH5c.5156T>C (p.Phe1719Ser)
c.5111T>C (p.Phe1704Ser)
n.5363T>C
c.5264T>C (p.Phe1755Ser)
c.4169T>C (p.Phe1390Ser)
c.353T>C (p.Phe118Ser)
c.22-3048T>C (n.22-3048T>C)
c.3758T>C (p.Phe1253Ser)
n.5281T>C
5g.13844952A>TCA359214316DNAH5c.5156T>A (p.Phe1719Tyr)
c.5111T>A (p.Phe1704Tyr)
n.5363T>A
c.5264T>A (p.Phe1755Tyr)
c.4169T>A (p.Phe1390Tyr)
c.353T>A (p.Phe118Tyr)
c.22-3048T>A (n.22-3048T>A)
c.3758T>A (p.Phe1253Tyr)
n.5281T>A
5g.13844953A=CA1528465059DNAH5c.5155T= (p.Phe1719=)
c.5110T= (p.Phe1704=)
n.5362T=
c.5263T= (p.Phe1755=)
c.4168T= (p.Phe1390=)
c.352T= (p.Phe118=)
c.22-3049T= (n.22-3049T=)
c.3757T= (p.Phe1253=)
n.5280T=
5g.13844953A>CCA359214319DNAH5c.5155T>G (p.Phe1719Val)
c.5110T>G (p.Phe1704Val)
n.5362T>G
c.5263T>G (p.Phe1755Val)
c.4168T>G (p.Phe1390Val)
c.352T>G (p.Phe118Val)
c.22-3049T>G (n.22-3049T>G)
c.3757T>G (p.Phe1253Val)
n.5280T>G
 dbSNP gnomAD v2
5g.13844953A>GCA359214321DNAH5c.5155T>C (p.Phe1719Leu)
c.5110T>C (p.Phe1704Leu)
n.5362T>C
c.5263T>C (p.Phe1755Leu)
c.4168T>C (p.Phe1390Leu)
c.352T>C (p.Phe118Leu)
c.22-3049T>C (n.22-3049T>C)
c.3757T>C (p.Phe1253Leu)
n.5280T>C
 gnomAD v4
5g.13844953A>TCA359214323DNAH5c.5155T>A (p.Phe1719Ile)
c.5110T>A (p.Phe1704Ile)
n.5362T>A
c.5263T>A (p.Phe1755Ile)
c.4168T>A (p.Phe1390Ile)
c.352T>A (p.Phe118Ile)
c.22-3049T>A (n.22-3049T>A)
c.3757T>A (p.Phe1253Ile)
n.5280T>A
5g.13844954G>ACA443258237DNAH5c.5154C>T (p.Phe1718=)
c.5109C>T (p.Phe1703=)
n.5361C>T
c.5262C>T (p.Phe1754=)
c.4167C>T (p.Phe1389=)
c.351C>T (p.Phe117=)
c.22-3050C>T (n.22-3050C>T)
c.3756C>T (p.Phe1252=)
n.5279C>T
 COSMIC
5g.13844954G>CCA359214324DNAH5c.5154C>G (p.Phe1718Leu)
c.5109C>G (p.Phe1703Leu)
n.5361C>G
c.5262C>G (p.Phe1754Leu)
c.4167C>G (p.Phe1389Leu)
c.351C>G (p.Phe117Leu)
c.22-3050C>G (n.22-3050C>G)
c.3756C>G (p.Phe1252Leu)
n.5279C>G
5g.13844954G>TCA359214326DNAH5c.5154C>A (p.Phe1718Leu)
c.5109C>A (p.Phe1703Leu)
n.5361C>A
c.5262C>A (p.Phe1754Leu)
c.4167C>A (p.Phe1389Leu)
c.351C>A (p.Phe117Leu)
c.22-3050C>A (n.22-3050C>A)
c.3756C>A (p.Phe1252Leu)
n.5279C>A
5g.13844954dupCA2697547065DNAH5c.5154dup (p.Phe1719LeufsTer29)
c.5109dup (p.Phe1704LeufsTer29)
n.5361dup
c.5262dup (p.Phe1755LeufsTer29)
c.4167dup (p.Phe1390LeufsTer29)
c.351dup (p.Phe118LeufsTer29)
c.22-3050dup (n.22-3050dup)
c.3756dup (p.Phe1253LeufsTer29)
n.5279dup
 ClinVar
5g.13844955A=CA1528465060DNAH5c.5153T= (p.Phe1718=)
c.5108T= (p.Phe1703=)
n.5360T=
c.5261T= (p.Phe1754=)
c.4166T= (p.Phe1389=)
c.350T= (p.Phe117=)
c.22-3051T= (n.22-3051T=)
c.3755T= (p.Phe1252=)
n.5278T=
5g.13844955A>CCA359214329DNAH5c.5153T>G (p.Phe1718Cys)
c.5108T>G (p.Phe1703Cys)
n.5360T>G
c.5261T>G (p.Phe1754Cys)
c.4166T>G (p.Phe1389Cys)
c.350T>G (p.Phe117Cys)
c.22-3051T>G (n.22-3051T>G)
c.3755T>G (p.Phe1252Cys)
n.5278T>G
5g.13844955A>GCA359214332DNAH5c.5153T>C (p.Phe1718Ser)
c.5108T>C (p.Phe1703Ser)
n.5360T>C
c.5261T>C (p.Phe1754Ser)
c.4166T>C (p.Phe1389Ser)
c.350T>C (p.Phe117Ser)
c.22-3051T>C (n.22-3051T>C)
c.3755T>C (p.Phe1252Ser)
n.5278T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13844955A>TCA359214334DNAH5c.5153T>A (p.Phe1718Tyr)
c.5108T>A (p.Phe1703Tyr)
n.5360T>A
c.5261T>A (p.Phe1754Tyr)
c.4166T>A (p.Phe1389Tyr)
c.350T>A (p.Phe117Tyr)
c.22-3051T>A (n.22-3051T>A)
c.3755T>A (p.Phe1252Tyr)
n.5278T>A
5g.13844956A>CCA359214340DNAH5c.5152T>G (p.Phe1718Val)
c.5107T>G (p.Phe1703Val)
n.5359T>G
c.5260T>G (p.Phe1754Val)
c.4165T>G (p.Phe1389Val)
c.349T>G (p.Phe117Val)
c.22-3052T>G (n.22-3052T>G)
c.3754T>G (p.Phe1252Val)
n.5277T>G
 COSMIC
5g.13844956A>GCA359214342DNAH5c.5152T>C (p.Phe1718Leu)
c.5107T>C (p.Phe1703Leu)
n.5359T>C
c.5260T>C (p.Phe1754Leu)
c.4165T>C (p.Phe1389Leu)
c.349T>C (p.Phe117Leu)
c.22-3052T>C (n.22-3052T>C)
c.3754T>C (p.Phe1252Leu)
n.5277T>C
5g.13844956A>TCA359214344DNAH5c.5152T>A (p.Phe1718Ile)
c.5107T>A (p.Phe1703Ile)
n.5359T>A
c.5260T>A (p.Phe1754Ile)
c.4165T>A (p.Phe1389Ile)
c.349T>A (p.Phe117Ile)
c.22-3052T>A (n.22-3052T>A)
c.3754T>A (p.Phe1252Ile)
n.5277T>A
5g.13844957A>CCA359214347DNAH5c.5151T>G (p.Phe1717Leu)
c.5106T>G (p.Phe1702Leu)
n.5358T>G
c.5259T>G (p.Phe1753Leu)
c.4164T>G (p.Phe1388Leu)
c.348T>G (p.Phe116Leu)
c.22-3053T>G (n.22-3053T>G)
c.3753T>G (p.Phe1251Leu)
n.5276T>G
5g.13844957A>GCA443258244DNAH5c.5151T>C (p.Phe1717=)
c.5106T>C (p.Phe1702=)
n.5358T>C
c.5259T>C (p.Phe1753=)
c.4164T>C (p.Phe1388=)
c.348T>C (p.Phe116=)
c.22-3053T>C (n.22-3053T>C)
c.3753T>C (p.Phe1251=)
n.5276T>C
5g.13844957A>TCA359214349DNAH5c.5151T>A (p.Phe1717Leu)
c.5106T>A (p.Phe1702Leu)
n.5358T>A
c.5259T>A (p.Phe1753Leu)
c.4164T>A (p.Phe1388Leu)
c.348T>A (p.Phe116Leu)
c.22-3053T>A (n.22-3053T>A)
c.3753T>A (p.Phe1251Leu)
n.5276T>A
5g.13844958A>CCA359214352DNAH5c.5150T>G (p.Phe1717Cys)
c.5105T>G (p.Phe1702Cys)
n.5357T>G
c.5258T>G (p.Phe1753Cys)
c.4163T>G (p.Phe1388Cys)
c.347T>G (p.Phe116Cys)
c.22-3054T>G (n.22-3054T>G)
c.3752T>G (p.Phe1251Cys)
n.5275T>G
5g.13844958A>GCA359214359DNAH5c.5150T>C (p.Phe1717Ser)
c.5105T>C (p.Phe1702Ser)
n.5357T>C
c.5258T>C (p.Phe1753Ser)
c.4163T>C (p.Phe1388Ser)
c.347T>C (p.Phe116Ser)
c.22-3054T>C (n.22-3054T>C)
c.3752T>C (p.Phe1251Ser)
n.5275T>C
5g.13844958A>TCA359214356DNAH5c.5150T>A (p.Phe1717Tyr)
c.5105T>A (p.Phe1702Tyr)
n.5357T>A
c.5258T>A (p.Phe1753Tyr)
c.4163T>A (p.Phe1388Tyr)
c.347T>A (p.Phe116Tyr)
c.22-3054T>A (n.22-3054T>A)
c.3752T>A (p.Phe1251Tyr)
n.5275T>A
5g.13844959A>CCA359214362DNAH5c.5149T>G (p.Phe1717Val)
c.5104T>G (p.Phe1702Val)
n.5356T>G
c.5257T>G (p.Phe1753Val)
c.4162T>G (p.Phe1388Val)
c.346T>G (p.Phe116Val)
c.22-3055T>G (n.22-3055T>G)
c.3751T>G (p.Phe1251Val)
n.5274T>G
 COSMIC
5g.13844959A>GCA359214366DNAH5c.5149T>C (p.Phe1717Leu)
c.5104T>C (p.Phe1702Leu)
n.5356T>C
c.5257T>C (p.Phe1753Leu)
c.4162T>C (p.Phe1388Leu)
c.346T>C (p.Phe116Leu)
c.22-3055T>C (n.22-3055T>C)
c.3751T>C (p.Phe1251Leu)
n.5274T>C
5g.13844959A>TCA359214364DNAH5c.5149T>A (p.Phe1717Ile)
c.5104T>A (p.Phe1702Ile)
n.5356T>A
c.5257T>A (p.Phe1753Ile)
c.4162T>A (p.Phe1388Ile)
c.346T>A (p.Phe116Ile)
c.22-3055T>A (n.22-3055T>A)
c.3751T>A (p.Phe1251Ile)
n.5274T>A
5g.13844960C>ACA443258253DNAH5c.5148G>T (p.Arg1716=)
c.5103G>T (p.Arg1701=)
n.5355G>T
c.5256G>T (p.Arg1752=)
c.4161G>T (p.Arg1387=)
c.345G>T (p.Arg115=)
c.22-3056G>T (n.22-3056G>T)
c.3750G>T (p.Arg1250=)
n.5273G>T
5g.13844960C=CA1528465061DNAH5c.5148G= (p.Arg1716=)
c.5103G= (p.Arg1701=)
n.5355G=
c.5256G= (p.Arg1752=)
c.4161G= (p.Arg1387=)
c.345G= (p.Arg115=)
c.22-3056G= (n.22-3056G=)
c.3750G= (p.Arg1250=)
n.5273G=
5g.13844960C>GCA443258255DNAH5c.5148G>C (p.Arg1716=)
c.5103G>C (p.Arg1701=)
n.5355G>C
c.5256G>C (p.Arg1752=)
c.4161G>C (p.Arg1387=)
c.345G>C (p.Arg115=)
c.22-3056G>C (n.22-3056G>C)
c.3750G>C (p.Arg1250=)
n.5273G>C
5g.13844960C>TCA3203775DNAH5c.5148G>A (p.Arg1716=)
c.5103G>A (p.Arg1701=)
n.5355G>A
c.5256G>A (p.Arg1752=)
c.4161G>A (p.Arg1387=)
c.345G>A (p.Arg115=)
c.22-3056G>A (n.22-3056G>A)
c.3750G>A (p.Arg1250=)
n.5273G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13844961C>ACA113954672DNAH5c.5147G>T (p.Arg1716Leu)
c.5102G>T (p.Arg1701Leu)
n.5354G>T
c.5255G>T (p.Arg1752Leu)
c.4160G>T (p.Arg1387Leu)
c.344G>T (p.Arg115Leu)
c.22-3057G>T (n.22-3057G>T)
c.3749G>T (p.Arg1250Leu)
n.5272G>T
 ClinVar dbSNP gnomAD v4
5g.13844961C=CA1528465062DNAH5c.5147G= (p.Arg1716=)
c.5102G= (p.Arg1701=)
n.5354G=
c.5255G= (p.Arg1752=)
c.4160G= (p.Arg1387=)
c.344G= (p.Arg115=)
c.22-3057G= (n.22-3057G=)
c.3749G= (p.Arg1250=)
n.5272G=
5g.13844961C>GCA359214371DNAH5c.5147G>C (p.Arg1716Pro)
c.5102G>C (p.Arg1701Pro)
n.5354G>C
c.5255G>C (p.Arg1752Pro)
c.4160G>C (p.Arg1387Pro)
c.344G>C (p.Arg115Pro)
c.22-3057G>C (n.22-3057G>C)
c.3749G>C (p.Arg1250Pro)
n.5272G>C
 ClinVar dbSNP
5g.13844961C>TCA359214373DNAH5c.5147G>A (p.Arg1716Gln)
c.5102G>A (p.Arg1701Gln)
n.5354G>A
c.5255G>A (p.Arg1752Gln)
c.4160G>A (p.Arg1387Gln)
c.344G>A (p.Arg115Gln)
c.22-3057G>A (n.22-3057G>A)
c.3749G>A (p.Arg1250Gln)
n.5272G>A
 ClinVar gnomAD v4
5g.13844962G>ACA3203776DNAH5c.5146C>T (p.Arg1716Trp)
c.5101C>T (p.Arg1701Trp)
n.5353C>T
c.5254C>T (p.Arg1752Trp)
c.4159C>T (p.Arg1387Trp)
c.343C>T (p.Arg115Trp)
c.22-3058C>T (n.22-3058C>T)
c.3748C>T (p.Arg1250Trp)
n.5271C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13844962G>CCA359214376DNAH5c.5146C>G (p.Arg1716Gly)
c.5101C>G (p.Arg1701Gly)
n.5353C>G
c.5254C>G (p.Arg1752Gly)
c.4159C>G (p.Arg1387Gly)
c.343C>G (p.Arg115Gly)
c.22-3058C>G (n.22-3058C>G)
c.3748C>G (p.Arg1250Gly)
n.5271C>G
5g.13844962G=CA1528465063DNAH5c.5146C= (p.Arg1716=)
c.5101C= (p.Arg1701=)
n.5353C=
c.5254C= (p.Arg1752=)
c.4159C= (p.Arg1387=)
c.343C= (p.Arg115=)
c.22-3058C= (n.22-3058C=)
c.3748C= (p.Arg1250=)
n.5271C=
5g.13844962G>TCA443258267DNAH5c.5146C>A (p.Arg1716=)
c.5101C>A (p.Arg1701=)
n.5353C>A
c.5254C>A (p.Arg1752=)
c.4159C>A (p.Arg1387=)
c.343C>A (p.Arg115=)
c.22-3058C>A (n.22-3058C>A)
c.3748C>A (p.Arg1250=)
n.5271C>A
5g.13844963A>CCA443258268DNAH5c.5145T>G (p.Pro1715=)
c.5100T>G (p.Pro1700=)
n.5352T>G
c.5253T>G (p.Pro1751=)
c.4158T>G (p.Pro1386=)
c.342T>G (p.Pro114=)
c.22-3059T>G (n.22-3059T>G)
c.3747T>G (p.Pro1249=)
n.5270T>G
5g.13844963A>GCA443258270DNAH5c.5145T>C (p.Pro1715=)
c.5100T>C (p.Pro1700=)
n.5352T>C
c.5253T>C (p.Pro1751=)
c.4158T>C (p.Pro1386=)
c.342T>C (p.Pro114=)
c.22-3059T>C (n.22-3059T>C)
c.3747T>C (p.Pro1249=)
n.5270T>C
5g.13844963A>TCA443258271DNAH5c.5145T>A (p.Pro1715=)
c.5100T>A (p.Pro1700=)
n.5352T>A
c.5253T>A (p.Pro1751=)
c.4158T>A (p.Pro1386=)
c.342T>A (p.Pro114=)
c.22-3059T>A (n.22-3059T>A)
c.3747T>A (p.Pro1249=)
n.5270T>A
5g.13844964G>ACA359214377DNAH5c.5144C>T (p.Pro1715Leu)
c.5099C>T (p.Pro1700Leu)
n.5351C>T
c.5252C>T (p.Pro1751Leu)
c.4157C>T (p.Pro1386Leu)
c.341C>T (p.Pro114Leu)
c.22-3060C>T (n.22-3060C>T)
c.3746C>T (p.Pro1249Leu)
n.5269C>T
 COSMIC
5g.13844964G>CCA113954684DNAH5c.5144C>G (p.Pro1715Arg)
c.5099C>G (p.Pro1700Arg)
n.5351C>G
c.5252C>G (p.Pro1751Arg)
c.4157C>G (p.Pro1386Arg)
c.341C>G (p.Pro114Arg)
c.22-3060C>G (n.22-3060C>G)
c.3746C>G (p.Pro1249Arg)
n.5269C>G
 dbSNP
5g.13844964G=CA1528465064DNAH5c.5144C= (p.Pro1715=)
c.5099C= (p.Pro1700=)
n.5351C=
c.5252C= (p.Pro1751=)
c.4157C= (p.Pro1386=)
c.341C= (p.Pro114=)
c.22-3060C= (n.22-3060C=)
c.3746C= (p.Pro1249=)
n.5269C=
5g.13844964G>TCA359214381DNAH5c.5144C>A (p.Pro1715His)
c.5099C>A (p.Pro1700His)
n.5351C>A
c.5252C>A (p.Pro1751His)
c.4157C>A (p.Pro1386His)
c.341C>A (p.Pro114His)
c.22-3060C>A (n.22-3060C>A)
c.3746C>A (p.Pro1249His)
n.5269C>A
 COSMIC
5g.13844965G>ACA113954701DNAH5c.5143C>T (p.Pro1715Ser)
c.5098C>T (p.Pro1700Ser)
n.5350C>T
c.5251C>T (p.Pro1751Ser)
c.4156C>T (p.Pro1386Ser)
c.340C>T (p.Pro114Ser)
c.22-3061C>T (n.22-3061C>T)
c.3745C>T (p.Pro1249Ser)
n.5268C>T
 dbSNP gnomAD v4
5g.13844965G>CCA359214384DNAH5c.5143C>G (p.Pro1715Ala)
c.5098C>G (p.Pro1700Ala)
n.5350C>G
c.5251C>G (p.Pro1751Ala)
c.4156C>G (p.Pro1386Ala)
c.340C>G (p.Pro114Ala)
c.22-3061C>G (n.22-3061C>G)
c.3745C>G (p.Pro1249Ala)
n.5268C>G
 gnomAD v4
5g.13844965G=CA1528465065DNAH5c.5143C= (p.Pro1715=)
c.5098C= (p.Pro1700=)
n.5350C=
c.5251C= (p.Pro1751=)
c.4156C= (p.Pro1386=)
c.340C= (p.Pro114=)
c.22-3061C= (n.22-3061C=)
c.3745C= (p.Pro1249=)
n.5268C=
5g.13844965G>TCA359214387DNAH5c.5143C>A (p.Pro1715Thr)
c.5098C>A (p.Pro1700Thr)
n.5350C>A
c.5251C>A (p.Pro1751Thr)
c.4156C>A (p.Pro1386Thr)
c.340C>A (p.Pro114Thr)
c.22-3061C>A (n.22-3061C>A)
c.3745C>A (p.Pro1249Thr)
n.5268C>A
5g.13844966A>CCA359214391DNAH5c.5142T>G (p.Phe1714Leu)
c.5097T>G (p.Phe1699Leu)
n.5349T>G
c.5250T>G (p.Phe1750Leu)
c.4155T>G (p.Phe1385Leu)
c.339T>G (p.Phe113Leu)
c.22-3062T>G (n.22-3062T>G)
c.3744T>G (p.Phe1248Leu)
n.5267T>G
5g.13844966A>GCA443258278DNAH5c.5142T>C (p.Phe1714=)
c.5097T>C (p.Phe1699=)
n.5349T>C
c.5250T>C (p.Phe1750=)
c.4155T>C (p.Phe1385=)
c.339T>C (p.Phe113=)
c.22-3062T>C (n.22-3062T>C)
c.3744T>C (p.Phe1248=)
n.5267T>C
 ClinVar dbSNP
5g.13844966A>TCA359214390DNAH5c.5142T>A (p.Phe1714Leu)
c.5097T>A (p.Phe1699Leu)
n.5349T>A
c.5250T>A (p.Phe1750Leu)
c.4155T>A (p.Phe1385Leu)
c.339T>A (p.Phe113Leu)
c.22-3062T>A (n.22-3062T>A)
c.3744T>A (p.Phe1248Leu)
n.5267T>A
5g.13844967A>CCA359214394DNAH5c.5141T>G (p.Phe1714Cys)
c.5096T>G (p.Phe1699Cys)
n.5348T>G
c.5249T>G (p.Phe1750Cys)
c.4154T>G (p.Phe1385Cys)
c.338T>G (p.Phe113Cys)
c.22-3063T>G (n.22-3063T>G)
c.3743T>G (p.Phe1248Cys)
n.5266T>G
5g.13844967A>GCA359214397DNAH5c.5141T>C (p.Phe1714Ser)
c.5096T>C (p.Phe1699Ser)
n.5348T>C
c.5249T>C (p.Phe1750Ser)
c.4154T>C (p.Phe1385Ser)
c.338T>C (p.Phe113Ser)
c.22-3063T>C (n.22-3063T>C)
c.3743T>C (p.Phe1248Ser)
n.5266T>C
5g.13844967A>TCA359214399DNAH5c.5141T>A (p.Phe1714Tyr)
c.5096T>A (p.Phe1699Tyr)
n.5348T>A
c.5249T>A (p.Phe1750Tyr)
c.4154T>A (p.Phe1385Tyr)
c.338T>A (p.Phe113Tyr)
c.22-3063T>A (n.22-3063T>A)
c.3743T>A (p.Phe1248Tyr)
n.5266T>A

Number of alleles fetched