Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13870754G>TCA2673276433DNAH5c.3834+13C>A (n.3834+13C>A)
c.3789+13C>A (n.3789+13C>A)
n.4041+13C>A
c.3942+13C>A (n.3942+13C>A)
c.2847+13C>A (n.2847+13C>A)
c.2436+13C>A (n.2436+13C>A)
n.3959+13C>A
 gnomAD v4
5g.13870755A>CCA2578270843DNAH5c.3834+12T>G (n.3834+12T>G)
c.3789+12T>G (n.3789+12T>G)
n.4041+12T>G
c.3942+12T>G (n.3942+12T>G)
c.2847+12T>G (n.2847+12T>G)
c.2436+12T>G (n.2436+12T>G)
n.3959+12T>G
5g.13870755A>TCA2739274633DNAH5c.3834+12T>A (n.3834+12T>A)
c.3789+12T>A (n.3789+12T>A)
n.4041+12T>A
c.3942+12T>A (n.3942+12T>A)
c.2847+12T>A (n.2847+12T>A)
c.2436+12T>A (n.2436+12T>A)
n.3959+12T>A
 ClinVar
5g.13870760_13870761insTGTTCATTCA2673276434DNAH5c.3834+11_3834+12insACAAATGA (n.3834+11_3834+12insACAAATGA)
c.3789+11_3789+12insACAAATGA (n.3789+11_3789+12insACAAATGA)
n.4041+11_4041+12insACAAATGA
c.3942+11_3942+12insACAAATGA (n.3942+11_3942+12insACAAATGA)
c.2847+11_2847+12insACAAATGA (n.2847+11_2847+12insACAAATGA)
c.2436+11_2436+12insACAAATGA (n.2436+11_2436+12insACAAATGA)
n.3959+11_3959+12insACAAATGA
 gnomAD v4
5g.13870757C>ACA2673276435DNAH5c.3834+10G>T (n.3834+10G>T)
c.3789+10G>T (n.3789+10G>T)
n.4041+10G>T
c.3942+10G>T (n.3942+10G>T)
c.2847+10G>T (n.2847+10G>T)
c.2436+10G>T (n.2436+10G>T)
n.3959+10G>T
 gnomAD v4
5g.13870757C=CA1528476290DNAH5c.3834+10G= (n.3834+10G=)
c.3789+10G= (n.3789+10G=)
n.4041+10G=
c.3942+10G= (n.3942+10G=)
c.2847+10G= (n.2847+10G=)
c.2436+10G= (n.2436+10G=)
n.3959+10G=
5g.13870757C>GCA3204169DNAH5c.3834+10G>C (n.3834+10G>C)
c.3789+10G>C (n.3789+10G>C)
n.4041+10G>C
c.3942+10G>C (n.3942+10G>C)
c.2847+10G>C (n.2847+10G>C)
c.2436+10G>C (n.2436+10G>C)
n.3959+10G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870757C>TCA2573138497DNAH5c.3834+10G>A (n.3834+10G>A)
c.3789+10G>A (n.3789+10G>A)
n.4041+10G>A
c.3942+10G>A (n.3942+10G>A)
c.2847+10G>A (n.2847+10G>A)
c.2436+10G>A (n.2436+10G>A)
n.3959+10G>A
 ClinVar dbSNP gnomAD v4
5g.13870759T>CCA3204170DNAH5c.3834+8A>G (n.3834+8A>G)
c.3789+8A>G (n.3789+8A>G)
n.4041+8A>G
c.3942+8A>G (n.3942+8A>G)
c.2847+8A>G (n.2847+8A>G)
c.2436+8A>G (n.2436+8A>G)
n.3959+8A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870759T>GCA2739274634DNAH5c.3834+8A>C (n.3834+8A>C)
c.3789+8A>C (n.3789+8A>C)
n.4041+8A>C
c.3942+8A>C (n.3942+8A>C)
c.2847+8A>C (n.2847+8A>C)
c.2436+8A>C (n.2436+8A>C)
n.3959+8A>C
 ClinVar
5g.13870759T=CA1528476291DNAH5c.3834+8A= (n.3834+8A=)
c.3789+8A= (n.3789+8A=)
n.4041+8A=
c.3942+8A= (n.3942+8A=)
c.2847+8A= (n.2847+8A=)
c.2436+8A= (n.2436+8A=)
n.3959+8A=
5g.13870760T>CCA2499217645DNAH5c.3834+7A>G (n.3834+7A>G)
c.3789+7A>G (n.3789+7A>G)
n.4041+7A>G
c.3942+7A>G (n.3942+7A>G)
c.2847+7A>G (n.2847+7A>G)
c.2436+7A>G (n.2436+7A>G)
n.3959+7A>G
 ClinVar dbSNP gnomAD v4
5g.13870761A>TCA2673276436DNAH5c.3834+6T>A (n.3834+6T>A)
c.3789+6T>A (n.3789+6T>A)
n.4041+6T>A
c.3942+6T>A (n.3942+6T>A)
c.2847+6T>A (n.2847+6T>A)
c.2436+6T>A (n.2436+6T>A)
n.3959+6T>A
 gnomAD v4
5g.13870762G>ACA1073408386DNAH5c.3834+5C>T (n.3834+5C>T)
c.3789+5C>T (n.3789+5C>T)
n.4041+5C>T
c.3942+5C>T (n.3942+5C>T)
c.2847+5C>T (n.2847+5C>T)
c.2436+5C>T (n.2436+5C>T)
n.3959+5C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870762G=CA1528476293DNAH5c.3834+5C= (n.3834+5C=)
c.3789+5C= (n.3789+5C=)
n.4041+5C=
c.3942+5C= (n.3942+5C=)
c.2847+5C= (n.2847+5C=)
c.2436+5C= (n.2436+5C=)
n.3959+5C=
5g.13870762G>TCA2673276437DNAH5c.3834+5C>A (n.3834+5C>A)
c.3789+5C>A (n.3789+5C>A)
n.4041+5C>A
c.3942+5C>A (n.3942+5C>A)
c.2847+5C>A (n.2847+5C>A)
c.2436+5C>A (n.2436+5C>A)
n.3959+5C>A
 gnomAD v4
5g.13870765A>CCA359231152DNAH5c.3834+2T>G (n.3834+2T>G)
c.3789+2T>G (n.3789+2T>G)
n.4041+2T>G
c.3942+2T>G (n.3942+2T>G)
c.2847+2T>G (n.2847+2T>G)
c.2436+2T>G (n.2436+2T>G)
n.3959+2T>G
5g.13870765A>GCA359231155DNAH5c.3834+2T>C (n.3834+2T>C)
c.3789+2T>C (n.3789+2T>C)
n.4041+2T>C
c.3942+2T>C (n.3942+2T>C)
c.2847+2T>C (n.2847+2T>C)
c.2436+2T>C (n.2436+2T>C)
n.3959+2T>C
5g.13870765A>TCA359231157DNAH5c.3834+2T>A (n.3834+2T>A)
c.3789+2T>A (n.3789+2T>A)
n.4041+2T>A
c.3942+2T>A (n.3942+2T>A)
c.2847+2T>A (n.2847+2T>A)
c.2436+2T>A (n.2436+2T>A)
n.3959+2T>A
5g.13870766C>ACA359231158DNAH5c.3834+1G>T (n.3834+1G>T)
c.3789+1G>T (n.3789+1G>T)
n.4041+1G>T
c.3942+1G>T (n.3942+1G>T)
c.2847+1G>T (n.2847+1G>T)
c.2436+1G>T (n.2436+1G>T)
n.3959+1G>T
5g.13870766C>GCA359231159DNAH5c.3834+1G>C (n.3834+1G>C)
c.3789+1G>C (n.3789+1G>C)
n.4041+1G>C
c.3942+1G>C (n.3942+1G>C)
c.2847+1G>C (n.2847+1G>C)
c.2436+1G>C (n.2436+1G>C)
n.3959+1G>C
5g.13870766C>TCA359231160DNAH5c.3834+1G>A (n.3834+1G>A)
c.3789+1G>A (n.3789+1G>A)
n.4041+1G>A
c.3942+1G>A (n.3942+1G>A)
c.2847+1G>A (n.2847+1G>A)
c.2436+1G>A (n.2436+1G>A)
n.3959+1G>A
 ClinVar
5g.13870767C>ACA359231161DNAH5c.3834G>T (p.Glu1278Asp)
c.3789G>T (p.Glu1263Asp)
n.4041G>T
c.3942G>T (p.Glu1314Asp)
c.2847G>T (p.Glu949Asp)
c.2436G>T (p.Glu812Asp)
n.3959G>T
5g.13870767C=CA1528476294DNAH5c.3834G= (p.Glu1278=)
c.3789G= (p.Glu1263=)
n.4041G=
c.3942G= (p.Glu1314=)
c.2847G= (p.Glu949=)
c.2436G= (p.Glu812=)
n.3959G=
5g.13870767C>GCA359231164DNAH5c.3834G>C (p.Glu1278Asp)
c.3789G>C (p.Glu1263Asp)
n.4041G>C
c.3942G>C (p.Glu1314Asp)
c.2847G>C (p.Glu949Asp)
c.2436G>C (p.Glu812Asp)
n.3959G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870767C>TCA443535271DNAH5c.3834G>A (p.Glu1278=)
c.3789G>A (p.Glu1263=)
n.4041G>A
c.3942G>A (p.Glu1314=)
c.2847G>A (p.Glu949=)
c.2436G>A (p.Glu812=)
n.3959G>A
 dbSNP
5g.13870768T>ACA359231166DNAH5c.3833A>T (p.Glu1278Val)
c.3788A>T (p.Glu1263Val)
n.4040A>T
c.3941A>T (p.Glu1314Val)
c.2846A>T (p.Glu949Val)
c.2435A>T (p.Glu812Val)
n.3958A>T
5g.13870768T>CCA359231168DNAH5c.3833A>G (p.Glu1278Gly)
c.3788A>G (p.Glu1263Gly)
n.4040A>G
c.3941A>G (p.Glu1314Gly)
c.2846A>G (p.Glu949Gly)
c.2435A>G (p.Glu812Gly)
n.3958A>G
5g.13870768T>GCA359231170DNAH5c.3833A>C (p.Glu1278Ala)
c.3788A>C (p.Glu1263Ala)
n.4040A>C
c.3941A>C (p.Glu1314Ala)
c.2846A>C (p.Glu949Ala)
c.2435A>C (p.Glu812Ala)
n.3958A>C
5g.13870769C>ACA359231184DNAH5c.3832G>T (p.Glu1278Ter)
c.3787G>T (p.Glu1263Ter)
n.4039G>T
c.3940G>T (p.Glu1314Ter)
c.2845G>T (p.Glu949Ter)
c.2434G>T (p.Glu812Ter)
n.3957G>T
5g.13870769C>GCA359231179DNAH5c.3832G>C (p.Glu1278Gln)
c.3787G>C (p.Glu1263Gln)
n.4039G>C
c.3940G>C (p.Glu1314Gln)
c.2845G>C (p.Glu949Gln)
c.2434G>C (p.Glu812Gln)
n.3957G>C
5g.13870769C>TCA359231172DNAH5c.3832G>A (p.Glu1278Lys)
c.3787G>A (p.Glu1263Lys)
n.4039G>A
c.3940G>A (p.Glu1314Lys)
c.2845G>A (p.Glu949Lys)
c.2434G>A (p.Glu812Lys)
n.3957G>A
 COSMIC
5g.13870770A>CCA359231188DNAH5c.3831T>G (p.Ile1277Met)
c.3786T>G (p.Ile1262Met)
n.4038T>G
c.3939T>G (p.Ile1313Met)
c.2844T>G (p.Ile948Met)
c.2433T>G (p.Ile811Met)
n.3956T>G
5g.13870770A>GCA443535272DNAH5c.3831T>C (p.Ile1277=)
c.3786T>C (p.Ile1262=)
n.4038T>C
c.3939T>C (p.Ile1313=)
c.2844T>C (p.Ile948=)
c.2433T>C (p.Ile811=)
n.3956T>C
 COSMIC
5g.13870770A>TCA443535273DNAH5c.3831T>A (p.Ile1277=)
c.3786T>A (p.Ile1262=)
n.4038T>A
c.3939T>A (p.Ile1313=)
c.2844T>A (p.Ile948=)
c.2433T>A (p.Ile811=)
n.3956T>A
5g.13870771A=CA1528476295DNAH5c.3830T= (p.Ile1277=)
c.3785T= (p.Ile1262=)
n.4037T=
c.3938T= (p.Ile1313=)
c.2843T= (p.Ile948=)
c.2432T= (p.Ile811=)
n.3955T=
5g.13870771A>CCA359231195DNAH5c.3830T>G (p.Ile1277Ser)
c.3785T>G (p.Ile1262Ser)
n.4037T>G
c.3938T>G (p.Ile1313Ser)
c.2843T>G (p.Ile948Ser)
c.2432T>G (p.Ile811Ser)
n.3955T>G
5g.13870771A>GCA113981180DNAH5c.3830T>C (p.Ile1277Thr)
c.3785T>C (p.Ile1262Thr)
n.4037T>C
c.3938T>C (p.Ile1313Thr)
c.2843T>C (p.Ile948Thr)
c.2432T>C (p.Ile811Thr)
n.3955T>C
 dbSNP gnomAD v4 COSMIC
5g.13870771A>TCA359231198DNAH5c.3830T>A (p.Ile1277Asn)
c.3785T>A (p.Ile1262Asn)
n.4037T>A
c.3938T>A (p.Ile1313Asn)
c.2843T>A (p.Ile948Asn)
c.2432T>A (p.Ile811Asn)
n.3955T>A
5g.13870772T>ACA3204171DNAH5c.3829A>T (p.Ile1277Phe)
c.3784A>T (p.Ile1262Phe)
n.4036A>T
c.3937A>T (p.Ile1313Phe)
c.2842A>T (p.Ile948Phe)
c.2431A>T (p.Ile811Phe)
n.3954A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870772T>CCA3204172DNAH5c.3829A>G (p.Ile1277Val)
c.3784A>G (p.Ile1262Val)
n.4036A>G
c.3937A>G (p.Ile1313Val)
c.2842A>G (p.Ile948Val)
c.2431A>G (p.Ile811Val)
n.3954A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870772T>GCA359231210DNAH5c.3829A>C (p.Ile1277Leu)
c.3784A>C (p.Ile1262Leu)
n.4036A>C
c.3937A>C (p.Ile1313Leu)
c.2842A>C (p.Ile948Leu)
c.2431A>C (p.Ile811Leu)
n.3954A>C
5g.13870772T=CA1528476297DNAH5c.3829A= (p.Ile1277=)
c.3784A= (p.Ile1262=)
n.4036A=
c.3937A= (p.Ile1313=)
c.2842A= (p.Ile948=)
c.2431A= (p.Ile811=)
n.3954A=
5g.13870773A=CA1528476299DNAH5c.3828T= (p.Pro1276=)
c.3783T= (p.Pro1261=)
n.4035T=
c.3936T= (p.Pro1312=)
c.2841T= (p.Pro947=)
c.2430T= (p.Pro810=)
n.3953T=
5g.13870773A>CCA443535274DNAH5c.3828T>G (p.Pro1276=)
c.3783T>G (p.Pro1261=)
n.4035T>G
c.3936T>G (p.Pro1312=)
c.2841T>G (p.Pro947=)
c.2430T>G (p.Pro810=)
n.3953T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870773A>GCA443535275DNAH5c.3828T>C (p.Pro1276=)
c.3783T>C (p.Pro1261=)
n.4035T>C
c.3936T>C (p.Pro1312=)
c.2841T>C (p.Pro947=)
c.2430T>C (p.Pro810=)
n.3953T>C
5g.13870773A>TCA443535276DNAH5c.3828T>A (p.Pro1276=)
c.3783T>A (p.Pro1261=)
n.4035T>A
c.3936T>A (p.Pro1312=)
c.2841T>A (p.Pro947=)
c.2430T>A (p.Pro810=)
n.3953T>A
5g.13870774G>ACA359231212DNAH5c.3827C>T (p.Pro1276Leu)
c.3782C>T (p.Pro1261Leu)
n.4034C>T
c.3935C>T (p.Pro1312Leu)
c.2840C>T (p.Pro947Leu)
c.2429C>T (p.Pro810Leu)
n.3952C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870774G>CCA359231213DNAH5c.3827C>G (p.Pro1276Arg)
c.3782C>G (p.Pro1261Arg)
n.4034C>G
c.3935C>G (p.Pro1312Arg)
c.2840C>G (p.Pro947Arg)
c.2429C>G (p.Pro810Arg)
n.3952C>G
5g.13870774G=CA1528476300DNAH5c.3827C= (p.Pro1276=)
c.3782C= (p.Pro1261=)
n.4034C=
c.3935C= (p.Pro1312=)
c.2840C= (p.Pro947=)
c.2429C= (p.Pro810=)
n.3952C=
5g.13870774G>TCA359231214DNAH5c.3827C>A (p.Pro1276His)
c.3782C>A (p.Pro1261His)
n.4034C>A
c.3935C>A (p.Pro1312His)
c.2840C>A (p.Pro947His)
c.2429C>A (p.Pro810His)
n.3952C>A
5g.13870775G>ACA359231215DNAH5c.3826C>T (p.Pro1276Ser)
c.3781C>T (p.Pro1261Ser)
n.4033C>T
c.3934C>T (p.Pro1312Ser)
c.2839C>T (p.Pro947Ser)
c.2428C>T (p.Pro810Ser)
n.3951C>T
5g.13870775G>CCA359231216DNAH5c.3826C>G (p.Pro1276Ala)
c.3781C>G (p.Pro1261Ala)
n.4033C>G
c.3934C>G (p.Pro1312Ala)
c.2839C>G (p.Pro947Ala)
c.2428C>G (p.Pro810Ala)
n.3951C>G
5g.13870775G=CA1528476302DNAH5c.3826C= (p.Pro1276=)
c.3781C= (p.Pro1261=)
n.4033C=
c.3934C= (p.Pro1312=)
c.2839C= (p.Pro947=)
c.2428C= (p.Pro810=)
n.3951C=
5g.13870775G>TCA113981194DNAH5c.3826C>A (p.Pro1276Thr)
c.3781C>A (p.Pro1261Thr)
n.4033C>A
c.3934C>A (p.Pro1312Thr)
c.2839C>A (p.Pro947Thr)
c.2428C>A (p.Pro810Thr)
n.3951C>A
 dbSNP
5g.13870776T>ACA443535277DNAH5c.3825A>T (p.Gly1275=)
c.3780A>T (p.Gly1260=)
n.4032A>T
c.3933A>T (p.Gly1311=)
c.2838A>T (p.Gly946=)
c.2427A>T (p.Gly809=)
n.3950A>T
5g.13870776T>CCA443535278DNAH5c.3825A>G (p.Gly1275=)
c.3780A>G (p.Gly1260=)
n.4032A>G
c.3933A>G (p.Gly1311=)
c.2838A>G (p.Gly946=)
c.2427A>G (p.Gly809=)
n.3950A>G
5g.13870776T>GCA443535279DNAH5c.3825A>C (p.Gly1275=)
c.3780A>C (p.Gly1260=)
n.4032A>C
c.3933A>C (p.Gly1311=)
c.2838A>C (p.Gly946=)
c.2427A>C (p.Gly809=)
n.3950A>C
5g.13870777C>ACA359231218DNAH5c.3824G>T (p.Gly1275Val)
c.3779G>T (p.Gly1260Val)
n.4031G>T
c.3932G>T (p.Gly1311Val)
c.2837G>T (p.Gly946Val)
c.2426G>T (p.Gly809Val)
n.3949G>T
5g.13870777C>GCA359231220DNAH5c.3824G>C (p.Gly1275Ala)
c.3779G>C (p.Gly1260Ala)
n.4031G>C
c.3932G>C (p.Gly1311Ala)
c.2837G>C (p.Gly946Ala)
c.2426G>C (p.Gly809Ala)
n.3949G>C
5g.13870777C>TCA359231223DNAH5c.3824G>A (p.Gly1275Glu)
c.3779G>A (p.Gly1260Glu)
n.4031G>A
c.3932G>A (p.Gly1311Glu)
c.2837G>A (p.Gly946Glu)
c.2426G>A (p.Gly809Glu)
n.3949G>A
 COSMIC
5g.13870778C>ACA359231229DNAH5c.3823G>T (p.Gly1275Ter)
c.3778G>T (p.Gly1260Ter)
n.4030G>T
c.3931G>T (p.Gly1311Ter)
c.2836G>T (p.Gly946Ter)
c.2425G>T (p.Gly809Ter)
n.3948G>T
5g.13870778C>GCA359231227DNAH5c.3823G>C (p.Gly1275Arg)
c.3778G>C (p.Gly1260Arg)
n.4030G>C
c.3931G>C (p.Gly1311Arg)
c.2836G>C (p.Gly946Arg)
c.2425G>C (p.Gly809Arg)
n.3948G>C
5g.13870778C>TCA359231228DNAH5c.3823G>A (p.Gly1275Arg)
c.3778G>A (p.Gly1260Arg)
n.4030G>A
c.3931G>A (p.Gly1311Arg)
c.2836G>A (p.Gly946Arg)
c.2425G>A (p.Gly809Arg)
n.3948G>A
5g.13870779T>ACA443535280DNAH5c.3822A>T (p.Val1274=)
c.3777A>T (p.Val1259=)
n.4029A>T
c.3930A>T (p.Val1310=)
c.2835A>T (p.Val945=)
c.2424A>T (p.Val808=)
n.3947A>T
5g.13870779T>CCA443535281DNAH5c.3822A>G (p.Val1274=)
c.3777A>G (p.Val1259=)
n.4029A>G
c.3930A>G (p.Val1310=)
c.2835A>G (p.Val945=)
c.2424A>G (p.Val808=)
n.3947A>G
5g.13870779T>GCA443535282DNAH5c.3822A>C (p.Val1274=)
c.3777A>C (p.Val1259=)
n.4029A>C
c.3930A>C (p.Val1310=)
c.2835A>C (p.Val945=)
c.2424A>C (p.Val808=)
n.3947A>C
5g.13870780A=CA1528476303DNAH5c.3821T= (p.Val1274=)
c.3776T= (p.Val1259=)
n.4028T=
c.3929T= (p.Val1310=)
c.2834T= (p.Val945=)
c.2423T= (p.Val808=)
n.3946T=
5g.13870780A>CCA359231230DNAH5c.3821T>G (p.Val1274Gly)
c.3776T>G (p.Val1259Gly)
n.4028T>G
c.3929T>G (p.Val1310Gly)
c.2834T>G (p.Val945Gly)
c.2423T>G (p.Val808Gly)
n.3946T>G
 gnomAD v4
5g.13870780A>GCA3204173DNAH5c.3821T>C (p.Val1274Ala)
c.3776T>C (p.Val1259Ala)
n.4028T>C
c.3929T>C (p.Val1310Ala)
c.2834T>C (p.Val945Ala)
c.2423T>C (p.Val808Ala)
n.3946T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870780A>TCA359231231DNAH5c.3821T>A (p.Val1274Glu)
c.3776T>A (p.Val1259Glu)
n.4028T>A
c.3929T>A (p.Val1310Glu)
c.2834T>A (p.Val945Glu)
c.2423T>A (p.Val808Glu)
n.3946T>A
5g.13870781C>ACA359231232DNAH5c.3820G>T (p.Val1274Leu)
c.3775G>T (p.Val1259Leu)
n.4027G>T
c.3928G>T (p.Val1310Leu)
c.2833G>T (p.Val945Leu)
c.2422G>T (p.Val808Leu)
n.3945G>T
 dbSNP
5g.13870781C=CA1528476305DNAH5c.3820G= (p.Val1274=)
c.3775G= (p.Val1259=)
n.4027G=
c.3928G= (p.Val1310=)
c.2833G= (p.Val945=)
c.2422G= (p.Val808=)
n.3945G=
5g.13870781C>GCA359231234DNAH5c.3820G>C (p.Val1274Leu)
c.3775G>C (p.Val1259Leu)
n.4027G>C
c.3928G>C (p.Val1310Leu)
c.2833G>C (p.Val945Leu)
c.2422G>C (p.Val808Leu)
n.3945G>C
5g.13870781C>TCA359231237DNAH5c.3820G>A (p.Val1274Ile)
c.3775G>A (p.Val1259Ile)
n.4027G>A
c.3928G>A (p.Val1310Ile)
c.2833G>A (p.Val945Ile)
c.2422G>A (p.Val808Ile)
n.3945G>A
 dbSNP
5g.13870782T>ACA359231241DNAH5c.3819A>T (p.Gln1273His)
c.3774A>T (p.Gln1258His)
n.4026A>T
c.3927A>T (p.Gln1309His)
c.2832A>T (p.Gln944His)
c.2421A>T (p.Gln807His)
n.3944A>T
5g.13870782T>CCA443535283DNAH5c.3819A>G (p.Gln1273=)
c.3774A>G (p.Gln1258=)
n.4026A>G
c.3927A>G (p.Gln1309=)
c.2832A>G (p.Gln944=)
c.2421A>G (p.Gln807=)
n.3944A>G
5g.13870782T>GCA359231250DNAH5c.3819A>C (p.Gln1273His)
c.3774A>C (p.Gln1258His)
n.4026A>C
c.3927A>C (p.Gln1309His)
c.2832A>C (p.Gln944His)
c.2421A>C (p.Gln807His)
n.3944A>C
5g.13870783T>ACA359231268DNAH5c.3818A>T (p.Gln1273Leu)
c.3773A>T (p.Gln1258Leu)
n.4025A>T
c.3926A>T (p.Gln1309Leu)
c.2831A>T (p.Gln944Leu)
c.2420A>T (p.Gln807Leu)
n.3943A>T
 gnomAD v4
5g.13870783T>CCA359231270DNAH5c.3818A>G (p.Gln1273Arg)
c.3773A>G (p.Gln1258Arg)
n.4025A>G
c.3926A>G (p.Gln1309Arg)
c.2831A>G (p.Gln944Arg)
c.2420A>G (p.Gln807Arg)
n.3943A>G
5g.13870783T>GCA359231273DNAH5c.3818A>C (p.Gln1273Pro)
c.3773A>C (p.Gln1258Pro)
n.4025A>C
c.3926A>C (p.Gln1309Pro)
c.2831A>C (p.Gln944Pro)
c.2420A>C (p.Gln807Pro)
n.3943A>C
5g.13870784G>ACA359231277DNAH5c.3817C>T (p.Gln1273Ter)
c.3772C>T (p.Gln1258Ter)
n.4024C>T
c.3925C>T (p.Gln1309Ter)
c.2830C>T (p.Gln944Ter)
c.2419C>T (p.Gln807Ter)
n.3942C>T
5g.13870784G>CCA359231278DNAH5c.3817C>G (p.Gln1273Glu)
c.3772C>G (p.Gln1258Glu)
n.4024C>G
c.3925C>G (p.Gln1309Glu)
c.2830C>G (p.Gln944Glu)
c.2419C>G (p.Gln807Glu)
n.3942C>G
 COSMIC
5g.13870784G>TCA359231275DNAH5c.3817C>A (p.Gln1273Lys)
c.3772C>A (p.Gln1258Lys)
n.4024C>A
c.3925C>A (p.Gln1309Lys)
c.2830C>A (p.Gln944Lys)
c.2419C>A (p.Gln807Lys)
n.3942C>A
5g.13870785A=CA1528476307DNAH5c.3816T= (p.Phe1272=)
c.3771T= (p.Phe1257=)
n.4023T=
c.3924T= (p.Phe1308=)
c.2829T= (p.Phe943=)
c.2418T= (p.Phe806=)
n.3941T=
5g.13870785A>CCA359231279DNAH5c.3816T>G (p.Phe1272Leu)
c.3771T>G (p.Phe1257Leu)
n.4023T>G
c.3924T>G (p.Phe1308Leu)
c.2829T>G (p.Phe943Leu)
c.2418T>G (p.Phe806Leu)
n.3941T>G
5g.13870785A>GCA443535284DNAH5c.3816T>C (p.Phe1272=)
c.3771T>C (p.Phe1257=)
n.4023T>C
c.3924T>C (p.Phe1308=)
c.2829T>C (p.Phe943=)
c.2418T>C (p.Phe806=)
n.3941T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870785A>TCA359231280DNAH5c.3816T>A (p.Phe1272Leu)
c.3771T>A (p.Phe1257Leu)
n.4023T>A
c.3924T>A (p.Phe1308Leu)
c.2829T>A (p.Phe943Leu)
c.2418T>A (p.Phe806Leu)
n.3941T>A
5g.13870786A>CCA359231281DNAH5c.3815T>G (p.Phe1272Cys)
c.3770T>G (p.Phe1257Cys)
n.4022T>G
c.3923T>G (p.Phe1308Cys)
c.2828T>G (p.Phe943Cys)
c.2417T>G (p.Phe806Cys)
n.3940T>G
 COSMIC
5g.13870786A>GCA359231282DNAH5c.3815T>C (p.Phe1272Ser)
c.3770T>C (p.Phe1257Ser)
n.4022T>C
c.3923T>C (p.Phe1308Ser)
c.2828T>C (p.Phe943Ser)
c.2417T>C (p.Phe806Ser)
n.3940T>C
5g.13870786A>TCA359231284DNAH5c.3815T>A (p.Phe1272Tyr)
c.3770T>A (p.Phe1257Tyr)
n.4022T>A
c.3923T>A (p.Phe1308Tyr)
c.2828T>A (p.Phe943Tyr)
c.2417T>A (p.Phe806Tyr)
n.3940T>A
5g.13870787A>CCA359231286DNAH5c.3814T>G (p.Phe1272Val)
c.3769T>G (p.Phe1257Val)
n.4021T>G
c.3922T>G (p.Phe1308Val)
c.2827T>G (p.Phe943Val)
c.2416T>G (p.Phe806Val)
n.3939T>G
5g.13870787A>GCA359231289DNAH5c.3814T>C (p.Phe1272Leu)
c.3769T>C (p.Phe1257Leu)
n.4021T>C
c.3922T>C (p.Phe1308Leu)
c.2827T>C (p.Phe943Leu)
c.2416T>C (p.Phe806Leu)
n.3939T>C
5g.13870787A>TCA359231295DNAH5c.3814T>A (p.Phe1272Ile)
c.3769T>A (p.Phe1257Ile)
n.4021T>A
c.3922T>A (p.Phe1308Ile)
c.2827T>A (p.Phe943Ile)
c.2416T>A (p.Phe806Ile)
n.3939T>A
5g.13870788G>ACA443535285DNAH5c.3813C>T (p.Asp1271=)
c.3768C>T (p.Asp1256=)
n.4020C>T
c.3921C>T (p.Asp1307=)
c.2826C>T (p.Asp942=)
c.2415C>T (p.Asp805=)
n.3938C>T
5g.13870788G>CCA359231298DNAH5c.3813C>G (p.Asp1271Glu)
c.3768C>G (p.Asp1256Glu)
n.4020C>G
c.3921C>G (p.Asp1307Glu)
c.2826C>G (p.Asp942Glu)
c.2415C>G (p.Asp805Glu)
n.3938C>G
5g.13870788G>TCA359231300DNAH5c.3813C>A (p.Asp1271Glu)
c.3768C>A (p.Asp1256Glu)
n.4020C>A
c.3921C>A (p.Asp1307Glu)
c.2826C>A (p.Asp942Glu)
c.2415C>A (p.Asp805Glu)
n.3938C>A
5g.13870789T>ACA359231305DNAH5c.3812A>T (p.Asp1271Val)
c.3767A>T (p.Asp1256Val)
n.4019A>T
c.3920A>T (p.Asp1307Val)
c.2825A>T (p.Asp942Val)
c.2414A>T (p.Asp805Val)
n.3937A>T
5g.13870789T>CCA359231308DNAH5c.3812A>G (p.Asp1271Gly)
c.3767A>G (p.Asp1256Gly)
n.4019A>G
c.3920A>G (p.Asp1307Gly)
c.2825A>G (p.Asp942Gly)
c.2414A>G (p.Asp805Gly)
n.3937A>G
5g.13870789T>GCA359231309DNAH5c.3812A>C (p.Asp1271Ala)
c.3767A>C (p.Asp1256Ala)
n.4019A>C
c.3920A>C (p.Asp1307Ala)
c.2825A>C (p.Asp942Ala)
c.2414A>C (p.Asp805Ala)
n.3937A>C
5g.13870790C>ACA359231312DNAH5c.3811G>T (p.Asp1271Tyr)
c.3766G>T (p.Asp1256Tyr)
n.4018G>T
c.3919G>T (p.Asp1307Tyr)
c.2824G>T (p.Asp942Tyr)
c.2413G>T (p.Asp805Tyr)
n.3936G>T
5g.13870790C>GCA359231311DNAH5c.3811G>C (p.Asp1271His)
c.3766G>C (p.Asp1256His)
n.4018G>C
c.3919G>C (p.Asp1307His)
c.2824G>C (p.Asp942His)
c.2413G>C (p.Asp805His)
n.3936G>C
 gnomAD v2 gnomAD v4
5g.13870790C>TCA359231310DNAH5c.3811G>A (p.Asp1271Asn)
c.3766G>A (p.Asp1256Asn)
n.4018G>A
c.3919G>A (p.Asp1307Asn)
c.2824G>A (p.Asp942Asn)
c.2413G>A (p.Asp805Asn)
n.3936G>A
5g.13870791A>CCA359231313DNAH5c.3810T>G (p.Ile1270Met)
c.3765T>G (p.Ile1255Met)
n.4017T>G
c.3918T>G (p.Ile1306Met)
c.2823T>G (p.Ile941Met)
c.2412T>G (p.Ile804Met)
n.3935T>G
5g.13870791A>GCA443535286DNAH5c.3810T>C (p.Ile1270=)
c.3765T>C (p.Ile1255=)
n.4017T>C
c.3918T>C (p.Ile1306=)
c.2823T>C (p.Ile941=)
c.2412T>C (p.Ile804=)
n.3935T>C
5g.13870791A>TCA443535287DNAH5c.3810T>A (p.Ile1270=)
c.3765T>A (p.Ile1255=)
n.4017T>A
c.3918T>A (p.Ile1306=)
c.2823T>A (p.Ile941=)
c.2412T>A (p.Ile804=)
n.3935T>A
5g.13870792A=CA1528476308DNAH5c.3809T= (p.Ile1270=)
c.3764T= (p.Ile1255=)
n.4016T=
c.3917T= (p.Ile1306=)
c.2822T= (p.Ile941=)
c.2411T= (p.Ile804=)
n.3934T=
5g.13870792A>CCA359231314DNAH5c.3809T>G (p.Ile1270Ser)
c.3764T>G (p.Ile1255Ser)
n.4016T>G
c.3917T>G (p.Ile1306Ser)
c.2822T>G (p.Ile941Ser)
c.2411T>G (p.Ile804Ser)
n.3934T>G
5g.13870792A>GCA359231316DNAH5c.3809T>C (p.Ile1270Thr)
c.3764T>C (p.Ile1255Thr)
n.4016T>C
c.3917T>C (p.Ile1306Thr)
c.2822T>C (p.Ile941Thr)
c.2411T>C (p.Ile804Thr)
n.3934T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870792A>TCA359231317DNAH5c.3809T>A (p.Ile1270Asn)
c.3764T>A (p.Ile1255Asn)
n.4016T>A
c.3917T>A (p.Ile1306Asn)
c.2822T>A (p.Ile941Asn)
c.2411T>A (p.Ile804Asn)
n.3934T>A
5g.13870793T>ACA359231318DNAH5c.3808A>T (p.Ile1270Phe)
c.3763A>T (p.Ile1255Phe)
n.4015A>T
c.3916A>T (p.Ile1306Phe)
c.2821A>T (p.Ile941Phe)
c.2410A>T (p.Ile804Phe)
n.3933A>T
5g.13870793T>CCA113981217DNAH5c.3808A>G (p.Ile1270Val)
c.3763A>G (p.Ile1255Val)
n.4015A>G
c.3916A>G (p.Ile1306Val)
c.2821A>G (p.Ile941Val)
c.2410A>G (p.Ile804Val)
n.3933A>G
 dbSNP gnomAD v4
5g.13870793T>GCA359231321DNAH5c.3808A>C (p.Ile1270Leu)
c.3763A>C (p.Ile1255Leu)
n.4015A>C
c.3916A>C (p.Ile1306Leu)
c.2821A>C (p.Ile941Leu)
c.2410A>C (p.Ile804Leu)
n.3933A>C
5g.13870793T=CA1528476310DNAH5c.3808A= (p.Ile1270=)
c.3763A= (p.Ile1255=)
n.4015A=
c.3916A= (p.Ile1306=)
c.2821A= (p.Ile941=)
c.2410A= (p.Ile804=)
n.3933A=
5g.13870794G>ACA443535288DNAH5c.3807C>T (p.Ser1269=)
c.3762C>T (p.Ser1254=)
n.4014C>T
c.3915C>T (p.Ser1305=)
c.2820C>T (p.Ser940=)
c.2409C>T (p.Ser803=)
n.3932C>T
5g.13870794G>CCA443535290DNAH5c.3807C>G (p.Ser1269=)
c.3762C>G (p.Ser1254=)
n.4014C>G
c.3915C>G (p.Ser1305=)
c.2820C>G (p.Ser940=)
c.2409C>G (p.Ser803=)
n.3932C>G
5g.13870794G>TCA443535289DNAH5c.3807C>A (p.Ser1269=)
c.3762C>A (p.Ser1254=)
n.4014C>A
c.3915C>A (p.Ser1305=)
c.2820C>A (p.Ser940=)
c.2409C>A (p.Ser803=)
n.3932C>A
5g.13870795G>ACA359231325DNAH5c.3806C>T (p.Ser1269Phe)
c.3761C>T (p.Ser1254Phe)
n.4013C>T
c.3914C>T (p.Ser1305Phe)
c.2819C>T (p.Ser940Phe)
c.2408C>T (p.Ser803Phe)
n.3931C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13870795G>CCA359231328DNAH5c.3806C>G (p.Ser1269Cys)
c.3761C>G (p.Ser1254Cys)
n.4013C>G
c.3914C>G (p.Ser1305Cys)
c.2819C>G (p.Ser940Cys)
c.2408C>G (p.Ser803Cys)
n.3931C>G
 gnomAD v4
5g.13870795G=CA1528476312DNAH5c.3806C= (p.Ser1269=)
c.3761C= (p.Ser1254=)
n.4013C=
c.3914C= (p.Ser1305=)
c.2819C= (p.Ser940=)
c.2408C= (p.Ser803=)
n.3931C=
5g.13870795G>TCA359231332DNAH5c.3806C>A (p.Ser1269Tyr)
c.3761C>A (p.Ser1254Tyr)
n.4013C>A
c.3914C>A (p.Ser1305Tyr)
c.2819C>A (p.Ser940Tyr)
c.2408C>A (p.Ser803Tyr)
n.3931C>A
5g.13870796A=CA1528476314DNAH5c.3805T= (p.Ser1269=)
c.3760T= (p.Ser1254=)
n.4012T=
c.3913T= (p.Ser1305=)
c.2818T= (p.Ser940=)
c.2407T= (p.Ser803=)
n.3930T=
5g.13870796A>CCA359231335DNAH5c.3805T>G (p.Ser1269Ala)
c.3760T>G (p.Ser1254Ala)
n.4012T>G
c.3913T>G (p.Ser1305Ala)
c.2818T>G (p.Ser940Ala)
c.2407T>G (p.Ser803Ala)
n.3930T>G
5g.13870796A>GCA359231338DNAH5c.3805T>C (p.Ser1269Pro)
c.3760T>C (p.Ser1254Pro)
n.4012T>C
c.3913T>C (p.Ser1305Pro)
c.2818T>C (p.Ser940Pro)
c.2407T>C (p.Ser803Pro)
n.3930T>C
5g.13870796A>TCA359231342DNAH5c.3805T>A (p.Ser1269Thr)
c.3760T>A (p.Ser1254Thr)
n.4012T>A
c.3913T>A (p.Ser1305Thr)
c.2818T>A (p.Ser940Thr)
c.2407T>A (p.Ser803Thr)
n.3930T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870797G>ACA443535291DNAH5c.3804C>T (p.Ile1268=)
c.3759C>T (p.Ile1253=)
n.4011C>T
c.3912C>T (p.Ile1304=)
c.2817C>T (p.Ile939=)
c.2406C>T (p.Ile802=)
n.3929C>T
 ClinVar gnomAD v4
5g.13870797G>CCA359231344DNAH5c.3804C>G (p.Ile1268Met)
c.3759C>G (p.Ile1253Met)
n.4011C>G
c.3912C>G (p.Ile1304Met)
c.2817C>G (p.Ile939Met)
c.2406C>G (p.Ile802Met)
n.3929C>G
 gnomAD v4 COSMIC
5g.13870797G>TCA443535292DNAH5c.3804C>A (p.Ile1268=)
c.3759C>A (p.Ile1253=)
n.4011C>A
c.3912C>A (p.Ile1304=)
c.2817C>A (p.Ile939=)
c.2406C>A (p.Ile802=)
n.3929C>A
5g.13870798A=CA1528476315DNAH5c.3803T= (p.Ile1268=)
c.3758T= (p.Ile1253=)
n.4010T=
c.3911T= (p.Ile1304=)
c.2816T= (p.Ile939=)
c.2405T= (p.Ile802=)
n.3928T=
5g.13870798A>CCA359231360DNAH5c.3803T>G (p.Ile1268Ser)
c.3758T>G (p.Ile1253Ser)
n.4010T>G
c.3911T>G (p.Ile1304Ser)
c.2816T>G (p.Ile939Ser)
c.2405T>G (p.Ile802Ser)
n.3928T>G
5g.13870798A>GCA359231357DNAH5c.3803T>C (p.Ile1268Thr)
c.3758T>C (p.Ile1253Thr)
n.4010T>C
c.3911T>C (p.Ile1304Thr)
c.2816T>C (p.Ile939Thr)
c.2405T>C (p.Ile802Thr)
n.3928T>C
5g.13870798A>TCA113981226DNAH5c.3803T>A (p.Ile1268Asn)
c.3758T>A (p.Ile1253Asn)
n.4010T>A
c.3911T>A (p.Ile1304Asn)
c.2816T>A (p.Ile939Asn)
c.2405T>A (p.Ile802Asn)
n.3928T>A
 dbSNP
5g.13870799T>ACA359231371DNAH5c.3802A>T (p.Ile1268Phe)
c.3757A>T (p.Ile1253Phe)
n.4009A>T
c.3910A>T (p.Ile1304Phe)
c.2815A>T (p.Ile939Phe)
c.2404A>T (p.Ile802Phe)
n.3927A>T
5g.13870799T>CCA359231374DNAH5c.3802A>G (p.Ile1268Val)
c.3757A>G (p.Ile1253Val)
n.4009A>G
c.3910A>G (p.Ile1304Val)
c.2815A>G (p.Ile939Val)
c.2404A>G (p.Ile802Val)
n.3927A>G
5g.13870799T>GCA359231375DNAH5c.3802A>C (p.Ile1268Leu)
c.3757A>C (p.Ile1253Leu)
n.4009A>C
c.3910A>C (p.Ile1304Leu)
c.2815A>C (p.Ile939Leu)
c.2404A>C (p.Ile802Leu)
n.3927A>C
5g.13870800T>ACA359231378DNAH5c.3801A>T (p.Gln1267His)
c.3756A>T (p.Gln1252His)
n.4008A>T
c.3909A>T (p.Gln1303His)
c.2814A>T (p.Gln938His)
c.2403A>T (p.Gln801His)
n.3926A>T
5g.13870800T>CCA443535293DNAH5c.3801A>G (p.Gln1267=)
c.3756A>G (p.Gln1252=)
n.4008A>G
c.3909A>G (p.Gln1303=)
c.2814A>G (p.Gln938=)
c.2403A>G (p.Gln801=)
n.3926A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870800T>GCA359231392DNAH5c.3801A>C (p.Gln1267His)
c.3756A>C (p.Gln1252His)
n.4008A>C
c.3909A>C (p.Gln1303His)
c.2814A>C (p.Gln938His)
c.2403A>C (p.Gln801His)
n.3926A>C
5g.13870800T=CA1528476317DNAH5c.3801A= (p.Gln1267=)
c.3756A= (p.Gln1252=)
n.4008A=
c.3909A= (p.Gln1303=)
c.2814A= (p.Gln938=)
c.2403A= (p.Gln801=)
n.3926A=
5g.13870801T>ACA359231399DNAH5c.3800A>T (p.Gln1267Leu)
c.3755A>T (p.Gln1252Leu)
n.4007A>T
c.3908A>T (p.Gln1303Leu)
c.2813A>T (p.Gln938Leu)
c.2402A>T (p.Gln801Leu)
n.3925A>T
5g.13870801T>CCA359231398DNAH5c.3800A>G (p.Gln1267Arg)
c.3755A>G (p.Gln1252Arg)
n.4007A>G
c.3908A>G (p.Gln1303Arg)
c.2813A>G (p.Gln938Arg)
c.2402A>G (p.Gln801Arg)
n.3925A>G
5g.13870801T>GCA359231397DNAH5c.3800A>C (p.Gln1267Pro)
c.3755A>C (p.Gln1252Pro)
n.4007A>C
c.3908A>C (p.Gln1303Pro)
c.2813A>C (p.Gln938Pro)
c.2402A>C (p.Gln801Pro)
n.3925A>C
5g.13870802G>ACA359231400DNAH5c.3799C>T (p.Gln1267Ter)
c.3754C>T (p.Gln1252Ter)
n.4006C>T
c.3907C>T (p.Gln1303Ter)
c.2812C>T (p.Gln938Ter)
c.2401C>T (p.Gln801Ter)
n.3924C>T
 ClinVar
5g.13870802G>CCA359231401DNAH5c.3799C>G (p.Gln1267Glu)
c.3754C>G (p.Gln1252Glu)
n.4006C>G
c.3907C>G (p.Gln1303Glu)
c.2812C>G (p.Gln938Glu)
c.2401C>G (p.Gln801Glu)
n.3924C>G
5g.13870802G>TCA359231402DNAH5c.3799C>A (p.Gln1267Lys)
c.3754C>A (p.Gln1252Lys)
n.4006C>A
c.3907C>A (p.Gln1303Lys)
c.2812C>A (p.Gln938Lys)
c.2401C>A (p.Gln801Lys)
n.3924C>A
5g.13870803C>ACA359231403DNAH5c.3798G>T (p.Glu1266Asp)
c.3753G>T (p.Glu1251Asp)
n.4005G>T
c.3906G>T (p.Glu1302Asp)
c.2811G>T (p.Glu937Asp)
c.2400G>T (p.Glu800Asp)
n.3923G>T
 gnomAD v4
5g.13870803C=CA1528476319DNAH5c.3798G= (p.Glu1266=)
c.3753G= (p.Glu1251=)
n.4005G=
c.3906G= (p.Glu1302=)
c.2811G= (p.Glu937=)
c.2400G= (p.Glu800=)
n.3923G=
5g.13870803C>GCA359231410DNAH5c.3798G>C (p.Glu1266Asp)
c.3753G>C (p.Glu1251Asp)
n.4005G>C
c.3906G>C (p.Glu1302Asp)
c.2811G>C (p.Glu937Asp)
c.2400G>C (p.Glu800Asp)
n.3923G>C
5g.13870803C>TCA3204174DNAH5c.3798G>A (p.Glu1266=)
c.3753G>A (p.Glu1251=)
n.4005G>A
c.3906G>A (p.Glu1302=)
c.2811G>A (p.Glu937=)
c.2400G>A (p.Glu800=)
n.3923G>A
 dbSNP ExAC gnomAD v2
5g.13870804T>ACA359231414DNAH5c.3797A>T (p.Glu1266Val)
c.3752A>T (p.Glu1251Val)
n.4004A>T
c.3905A>T (p.Glu1302Val)
c.2810A>T (p.Glu937Val)
c.2399A>T (p.Glu800Val)
n.3922A>T
5g.13870804T>CCA359231421DNAH5c.3797A>G (p.Glu1266Gly)
c.3752A>G (p.Glu1251Gly)
n.4004A>G
c.3905A>G (p.Glu1302Gly)
c.2810A>G (p.Glu937Gly)
c.2399A>G (p.Glu800Gly)
n.3922A>G
5g.13870804T>GCA359231420DNAH5c.3797A>C (p.Glu1266Ala)
c.3752A>C (p.Glu1251Ala)
n.4004A>C
c.3905A>C (p.Glu1302Ala)
c.2810A>C (p.Glu937Ala)
c.2399A>C (p.Glu800Ala)
n.3922A>C
5g.13870805C>ACA359231423DNAH5c.3796G>T (p.Glu1266Ter)
c.3751G>T (p.Glu1251Ter)
n.4003G>T
c.3904G>T (p.Glu1302Ter)
c.2809G>T (p.Glu937Ter)
c.2398G>T (p.Glu800Ter)
n.3921G>T
5g.13870805C=CA1528476320DNAH5c.3796G= (p.Glu1266=)
c.3751G= (p.Glu1251=)
n.4003G=
c.3904G= (p.Glu1302=)
c.2809G= (p.Glu937=)
c.2398G= (p.Glu800=)
n.3921G=
5g.13870805C>GCA359231425DNAH5c.3796G>C (p.Glu1266Gln)
c.3751G>C (p.Glu1251Gln)
n.4003G>C
c.3904G>C (p.Glu1302Gln)
c.2809G>C (p.Glu937Gln)
c.2398G>C (p.Glu800Gln)
n.3921G>C
5g.13870805C>TCA359231433DNAH5c.3796G>A (p.Glu1266Lys)
c.3751G>A (p.Glu1251Lys)
n.4003G>A
c.3904G>A (p.Glu1302Lys)
c.2809G>A (p.Glu937Lys)
c.2398G>A (p.Glu800Lys)
n.3921G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870806delCA2765350517DNAH5c.3796del (p.Glu1266SerfsTer9)
c.3751del (p.Glu1251SerfsTer9)
n.4003del
c.3904del (p.Glu1302SerfsTer9)
c.2809del (p.Glu937SerfsTer9)
c.2398del (p.Glu800SerfsTer9)
n.3921del
5g.13870806C>ACA359231434DNAH5c.3795G>T (p.Glu1265Asp)
c.3750G>T (p.Glu1250Asp)
n.4002G>T
c.3903G>T (p.Glu1301Asp)
c.2808G>T (p.Glu936Asp)
c.2397G>T (p.Glu799Asp)
n.3920G>T
5g.13870806C>GCA359231435DNAH5c.3795G>C (p.Glu1265Asp)
c.3750G>C (p.Glu1250Asp)
n.4002G>C
c.3903G>C (p.Glu1301Asp)
c.2808G>C (p.Glu936Asp)
c.2397G>C (p.Glu799Asp)
n.3920G>C
 ClinVar
5g.13870806C>TCA443535294DNAH5c.3795G>A (p.Glu1265=)
c.3750G>A (p.Glu1250=)
n.4002G>A
c.3903G>A (p.Glu1301=)
c.2808G>A (p.Glu936=)
c.2397G>A (p.Glu799=)
n.3920G>A
5g.13870807T>ACA359231436DNAH5c.3794A>T (p.Glu1265Val)
c.3749A>T (p.Glu1250Val)
n.4001A>T
c.3902A>T (p.Glu1301Val)
c.2807A>T (p.Glu936Val)
c.2396A>T (p.Glu799Val)
n.3919A>T
5g.13870807T>CCA359231440DNAH5c.3794A>G (p.Glu1265Gly)
c.3749A>G (p.Glu1250Gly)
n.4001A>G
c.3902A>G (p.Glu1301Gly)
c.2807A>G (p.Glu936Gly)
c.2396A>G (p.Glu799Gly)
n.3919A>G
 dbSNP
5g.13870807T>GCA359231443DNAH5c.3794A>C (p.Glu1265Ala)
c.3749A>C (p.Glu1250Ala)
n.4001A>C
c.3902A>C (p.Glu1301Ala)
c.2807A>C (p.Glu936Ala)
c.2396A>C (p.Glu799Ala)
n.3919A>C
5g.13870807T=CA1528476321DNAH5c.3794A= (p.Glu1265=)
c.3749A= (p.Glu1250=)
n.4001A=
c.3902A= (p.Glu1301=)
c.2807A= (p.Glu936=)
c.2396A= (p.Glu799=)
n.3919A=
5g.13870808C>ACA359231448DNAH5c.3793G>T (p.Glu1265Ter)
c.3748G>T (p.Glu1250Ter)
n.4000G>T
c.3901G>T (p.Glu1301Ter)
c.2806G>T (p.Glu936Ter)
c.2395G>T (p.Glu799Ter)
n.3918G>T
5g.13870808C>GCA359231451DNAH5c.3793G>C (p.Glu1265Gln)
c.3748G>C (p.Glu1250Gln)
n.4000G>C
c.3901G>C (p.Glu1301Gln)
c.2806G>C (p.Glu936Gln)
c.2395G>C (p.Glu799Gln)
n.3918G>C
5g.13870808C>TCA359231453DNAH5c.3793G>A (p.Glu1265Lys)
c.3748G>A (p.Glu1250Lys)
n.4000G>A
c.3901G>A (p.Glu1301Lys)
c.2806G>A (p.Glu936Lys)
c.2395G>A (p.Glu799Lys)
n.3918G>A
5g.13870808_13870812delinsCCCTTCA1528476322DNAH5c.3789_3793delinsAAGGG (p.Ile1263=)
c.3744_3748delinsAAGGG (p.Ile1248=)
n.3996_4000delinsAAGGG
c.3897_3901delinsAAGGG (p.Ile1299=)
c.2802_2806delinsAAGGG (p.Ile934=)
c.2391_2395delinsAAGGG (p.Ile797=)
n.3914_3918delinsAAGGG
5g.13870809C>ACA359231456DNAH5c.3792G>T (p.Arg1264Ser)
c.3747G>T (p.Arg1249Ser)
n.3999G>T
c.3900G>T (p.Arg1300Ser)
c.2805G>T (p.Arg935Ser)
c.2394G>T (p.Arg798Ser)
n.3917G>T
5g.13870809C=CA1528476324DNAH5c.3792G= (p.Arg1264=)
c.3747G= (p.Arg1249=)
n.3999G=
c.3900G= (p.Arg1300=)
c.2805G= (p.Arg935=)
c.2394G= (p.Arg798=)
n.3917G=
5g.13870809C>GCA113981232DNAH5c.3792G>C (p.Arg1264Ser)
c.3747G>C (p.Arg1249Ser)
n.3999G>C
c.3900G>C (p.Arg1300Ser)
c.2805G>C (p.Arg935Ser)
c.2394G>C (p.Arg798Ser)
n.3917G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870809C>TCA443535295DNAH5c.3792G>A (p.Arg1264=)
c.3747G>A (p.Arg1249=)
n.3999G>A
c.3900G>A (p.Arg1300=)
c.2805G>A (p.Arg935=)
c.2394G>A (p.Arg798=)
n.3917G>A
 ClinVar COSMIC
5g.13870809_13870812delCA804501934DNAH5c.3789_3792del (p.Ile1263MetfsTer11)
c.3744_3747del (p.Ile1248MetfsTer11)
n.3996_3999del
c.3897_3900del (p.Ile1299MetfsTer11)
c.2802_2805del (p.Ile934MetfsTer11)
c.2391_2394del (p.Ile797MetfsTer11)
n.3914_3917del
 dbSNP gnomAD v3 gnomAD v4
5g.13870810C>ACA359231463DNAH5c.3791G>T (p.Arg1264Met)
c.3746G>T (p.Arg1249Met)
n.3998G>T
c.3899G>T (p.Arg1300Met)
c.2804G>T (p.Arg935Met)
c.2393G>T (p.Arg798Met)
n.3916G>T
5g.13870810C=CA1528476325DNAH5c.3791G= (p.Arg1264=)
c.3746G= (p.Arg1249=)
n.3998G=
c.3899G= (p.Arg1300=)
c.2804G= (p.Arg935=)
c.2393G= (p.Arg798=)
n.3916G=
5g.13870810C>GCA359231464DNAH5c.3791G>C (p.Arg1264Thr)
c.3746G>C (p.Arg1249Thr)
n.3998G>C
c.3899G>C (p.Arg1300Thr)
c.2804G>C (p.Arg935Thr)
c.2393G>C (p.Arg798Thr)
n.3916G>C
5g.13870810C>TCA3204175DNAH5c.3791G>A (p.Arg1264Lys)
c.3746G>A (p.Arg1249Lys)
n.3998G>A
c.3899G>A (p.Arg1300Lys)
c.2804G>A (p.Arg935Lys)
c.2393G>A (p.Arg798Lys)
n.3916G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870811T>ACA359231468DNAH5c.3790A>T (p.Arg1264Trp)
c.3745A>T (p.Arg1249Trp)
n.3997A>T
c.3898A>T (p.Arg1300Trp)
c.2803A>T (p.Arg935Trp)
c.2392A>T (p.Arg798Trp)
n.3915A>T
5g.13870811T>CCA359231474DNAH5c.3790A>G (p.Arg1264Gly)
c.3745A>G (p.Arg1249Gly)
n.3997A>G
c.3898A>G (p.Arg1300Gly)
c.2803A>G (p.Arg935Gly)
c.2392A>G (p.Arg798Gly)
n.3915A>G
5g.13870811T>GCA443535296DNAH5c.3790A>C (p.Arg1264=)
c.3745A>C (p.Arg1249=)
n.3997A>C
c.3898A>C (p.Arg1300=)
c.2803A>C (p.Arg935=)
c.2392A>C (p.Arg798=)
n.3915A>C
 COSMIC
5g.13870812T>ACA443535297DNAH5c.3789A>T (p.Ile1263=)
c.3744A>T (p.Ile1248=)
n.3996A>T
c.3897A>T (p.Ile1299=)
c.2802A>T (p.Ile934=)
c.2391A>T (p.Ile797=)
n.3914A>T
5g.13870812T>CCA3204176DNAH5c.3789A>G (p.Ile1263Met)
c.3744A>G (p.Ile1248Met)
n.3996A>G
c.3897A>G (p.Ile1299Met)
c.2802A>G (p.Ile934Met)
c.2391A>G (p.Ile797Met)
n.3914A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870812T>GCA443535298DNAH5c.3789A>C (p.Ile1263=)
c.3744A>C (p.Ile1248=)
n.3996A>C
c.3897A>C (p.Ile1299=)
c.2802A>C (p.Ile934=)
c.2391A>C (p.Ile797=)
n.3914A>C
5g.13870812T=CA1528476326DNAH5c.3789A= (p.Ile1263=)
c.3744A= (p.Ile1248=)
n.3996A=
c.3897A= (p.Ile1299=)
c.2802A= (p.Ile934=)
c.2391A= (p.Ile797=)
n.3914A=
5g.13870813A>CCA359231488DNAH5c.3788T>G (p.Ile1263Arg)
c.3743T>G (p.Ile1248Arg)
n.3995T>G
c.3896T>G (p.Ile1299Arg)
c.2801T>G (p.Ile934Arg)
c.2390T>G (p.Ile797Arg)
n.3913T>G
5g.13870813A>GCA359231481DNAH5c.3788T>C (p.Ile1263Thr)
c.3743T>C (p.Ile1248Thr)
n.3995T>C
c.3896T>C (p.Ile1299Thr)
c.2801T>C (p.Ile934Thr)
c.2390T>C (p.Ile797Thr)
n.3913T>C
 ClinVar
5g.13870813A>TCA359231487DNAH5c.3788T>A (p.Ile1263Lys)
c.3743T>A (p.Ile1248Lys)
n.3995T>A
c.3896T>A (p.Ile1299Lys)
c.2801T>A (p.Ile934Lys)
c.2390T>A (p.Ile797Lys)
n.3913T>A
5g.13870814T>ACA359231489DNAH5c.3787A>T (p.Ile1263Leu)
c.3742A>T (p.Ile1248Leu)
n.3994A>T
c.3895A>T (p.Ile1299Leu)
c.2800A>T (p.Ile934Leu)
c.2389A>T (p.Ile797Leu)
n.3912A>T
5g.13870814T>CCA359231492DNAH5c.3787A>G (p.Ile1263Val)
c.3742A>G (p.Ile1248Val)
n.3994A>G
c.3895A>G (p.Ile1299Val)
c.2800A>G (p.Ile934Val)
c.2389A>G (p.Ile797Val)
n.3912A>G
 gnomAD v4 COSMIC
5g.13870814T>GCA359231494DNAH5c.3787A>C (p.Ile1263Leu)
c.3742A>C (p.Ile1248Leu)
n.3994A>C
c.3895A>C (p.Ile1299Leu)
c.2800A>C (p.Ile934Leu)
c.2389A>C (p.Ile797Leu)
n.3912A>C
5g.13870815T>ACA359231496DNAH5c.3786A>T (p.Glu1262Asp)
c.3741A>T (p.Glu1247Asp)
n.3993A>T
c.3894A>T (p.Glu1298Asp)
c.2799A>T (p.Glu933Asp)
c.2388A>T (p.Glu796Asp)
n.3911A>T
5g.13870815T>CCA443535299DNAH5c.3786A>G (p.Glu1262=)
c.3741A>G (p.Glu1247=)
n.3993A>G
c.3894A>G (p.Glu1298=)
c.2799A>G (p.Glu933=)
c.2388A>G (p.Glu796=)
n.3911A>G
5g.13870815T>GCA359231498DNAH5c.3786A>C (p.Glu1262Asp)
c.3741A>C (p.Glu1247Asp)
n.3993A>C
c.3894A>C (p.Glu1298Asp)
c.2799A>C (p.Glu933Asp)
c.2388A>C (p.Glu796Asp)
n.3911A>C
5g.13870816T>ACA359231501DNAH5c.3785A>T (p.Glu1262Val)
c.3740A>T (p.Glu1247Val)
n.3992A>T
c.3893A>T (p.Glu1298Val)
c.2798A>T (p.Glu933Val)
c.2387A>T (p.Glu796Val)
n.3910A>T
5g.13870816T>CCA359231503DNAH5c.3785A>G (p.Glu1262Gly)
c.3740A>G (p.Glu1247Gly)
n.3992A>G
c.3893A>G (p.Glu1298Gly)
c.2798A>G (p.Glu933Gly)
c.2387A>G (p.Glu796Gly)
n.3910A>G
 ClinVar dbSNP gnomAD v4
5g.13870816T>GCA359231502DNAH5c.3785A>C (p.Glu1262Ala)
c.3740A>C (p.Glu1247Ala)
n.3992A>C
c.3893A>C (p.Glu1298Ala)
c.2798A>C (p.Glu933Ala)
c.2387A>C (p.Glu796Ala)
n.3910A>C
5g.13870816T=CA1528476328DNAH5c.3785A= (p.Glu1262=)
c.3740A= (p.Glu1247=)
n.3992A=
c.3893A= (p.Glu1298=)
c.2798A= (p.Glu933=)
c.2387A= (p.Glu796=)
n.3910A=
5g.13870817C>ACA359231506DNAH5c.3784G>T (p.Glu1262Ter)
c.3739G>T (p.Glu1247Ter)
n.3991G>T
c.3892G>T (p.Glu1298Ter)
c.2797G>T (p.Glu933Ter)
c.2386G>T (p.Glu796Ter)
n.3909G>T
 ClinVar gnomAD v4 COSMIC
5g.13870817C=CA1528476329DNAH5c.3784G= (p.Glu1262=)
c.3739G= (p.Glu1247=)
n.3991G=
c.3892G= (p.Glu1298=)
c.2797G= (p.Glu933=)
c.2386G= (p.Glu796=)
n.3909G=
5g.13870817C>GCA359231509DNAH5c.3784G>C (p.Glu1262Gln)
c.3739G>C (p.Glu1247Gln)
n.3991G>C
c.3892G>C (p.Glu1298Gln)
c.2797G>C (p.Glu933Gln)
c.2386G>C (p.Glu796Gln)
n.3909G>C
5g.13870817C>TCA359231510DNAH5c.3784G>A (p.Glu1262Lys)
c.3739G>A (p.Glu1247Lys)
n.3991G>A
c.3892G>A (p.Glu1298Lys)
c.2797G>A (p.Glu933Lys)
c.2386G>A (p.Glu796Lys)
n.3909G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13870818T>ACA359231515DNAH5c.3783A>T (p.Lys1261Asn)
c.3738A>T (p.Lys1246Asn)
n.3990A>T
c.3891A>T (p.Lys1297Asn)
c.2796A>T (p.Lys932Asn)
c.2385A>T (p.Lys795Asn)
n.3908A>T
5g.13870818T>CCA443535300DNAH5c.3783A>G (p.Lys1261=)
c.3738A>G (p.Lys1246=)
n.3990A>G
c.3891A>G (p.Lys1297=)
c.2796A>G (p.Lys932=)
c.2385A>G (p.Lys795=)
n.3908A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870818T>GCA359231517DNAH5c.3783A>C (p.Lys1261Asn)
c.3738A>C (p.Lys1246Asn)
n.3990A>C
c.3891A>C (p.Lys1297Asn)
c.2796A>C (p.Lys932Asn)
c.2385A>C (p.Lys795Asn)
n.3908A>C
5g.13870818T=CA1528476331DNAH5c.3783A= (p.Lys1261=)
c.3738A= (p.Lys1246=)
n.3990A=
c.3891A= (p.Lys1297=)
c.2796A= (p.Lys932=)
c.2385A= (p.Lys795=)
n.3908A=
5g.13870819T>ACA359231525DNAH5c.3782A>T (p.Lys1261Ile)
c.3737A>T (p.Lys1246Ile)
n.3989A>T
c.3890A>T (p.Lys1297Ile)
c.2795A>T (p.Lys932Ile)
c.2384A>T (p.Lys795Ile)
n.3907A>T
5g.13870819T>CCA359231526DNAH5c.3782A>G (p.Lys1261Arg)
c.3737A>G (p.Lys1246Arg)
n.3989A>G
c.3890A>G (p.Lys1297Arg)
c.2795A>G (p.Lys932Arg)
c.2384A>G (p.Lys795Arg)
n.3907A>G
5g.13870819T>GCA359231527DNAH5c.3782A>C (p.Lys1261Thr)
c.3737A>C (p.Lys1246Thr)
n.3989A>C
c.3890A>C (p.Lys1297Thr)
c.2795A>C (p.Lys932Thr)
c.2384A>C (p.Lys795Thr)
n.3907A>C
5g.13870820T>ACA359231528DNAH5c.3781A>T (p.Lys1261Ter)
c.3736A>T (p.Lys1246Ter)
n.3988A>T
c.3889A>T (p.Lys1297Ter)
c.2794A>T (p.Lys932Ter)
c.2383A>T (p.Lys795Ter)
n.3906A>T
5g.13870820T>CCA359231529DNAH5c.3781A>G (p.Lys1261Glu)
c.3736A>G (p.Lys1246Glu)
n.3988A>G
c.3889A>G (p.Lys1297Glu)
c.2794A>G (p.Lys932Glu)
c.2383A>G (p.Lys795Glu)
n.3906A>G
5g.13870820T>GCA359231530DNAH5c.3781A>C (p.Lys1261Gln)
c.3736A>C (p.Lys1246Gln)
n.3988A>C
c.3889A>C (p.Lys1297Gln)
c.2794A>C (p.Lys932Gln)
c.2383A>C (p.Lys795Gln)
n.3906A>C
5g.13870821C>ACA443535301DNAH5c.3780G>T (p.Leu1260=)
c.3735G>T (p.Leu1245=)
n.3987G>T
c.3888G>T (p.Leu1296=)
c.2793G>T (p.Leu931=)
c.2382G>T (p.Leu794=)
n.3905G>T
5g.13870821C>GCA443535302DNAH5c.3780G>C (p.Leu1260=)
c.3735G>C (p.Leu1245=)
n.3987G>C
c.3888G>C (p.Leu1296=)
c.2793G>C (p.Leu931=)
c.2382G>C (p.Leu794=)
n.3905G>C
5g.13870821C>TCA443535303DNAH5c.3780G>A (p.Leu1260=)
c.3735G>A (p.Leu1245=)
n.3987G>A
c.3888G>A (p.Leu1296=)
c.2793G>A (p.Leu931=)
c.2382G>A (p.Leu794=)
n.3905G>A
 ClinVar dbSNP
5g.13870822A>CCA359231531DNAH5c.3779T>G (p.Leu1260Arg)
c.3734T>G (p.Leu1245Arg)
n.3986T>G
c.3887T>G (p.Leu1296Arg)
c.2792T>G (p.Leu931Arg)
c.2381T>G (p.Leu794Arg)
n.3904T>G
5g.13870822A>GCA359231536DNAH5c.3779T>C (p.Leu1260Pro)
c.3734T>C (p.Leu1245Pro)
n.3986T>C
c.3887T>C (p.Leu1296Pro)
c.2792T>C (p.Leu931Pro)
c.2381T>C (p.Leu794Pro)
n.3904T>C
5g.13870822A>TCA359231534DNAH5c.3779T>A (p.Leu1260Gln)
c.3734T>A (p.Leu1245Gln)
n.3986T>A
c.3887T>A (p.Leu1296Gln)
c.2792T>A (p.Leu931Gln)
c.2381T>A (p.Leu794Gln)
n.3904T>A
5g.13870823G>ACA443535304DNAH5c.3778C>T (p.Leu1260=)
c.3733C>T (p.Leu1245=)
n.3985C>T
c.3886C>T (p.Leu1296=)
c.2791C>T (p.Leu931=)
c.2380C>T (p.Leu794=)
n.3903C>T
 gnomAD v4
5g.13870823G>CCA359231537DNAH5c.3778C>G (p.Leu1260Val)
c.3733C>G (p.Leu1245Val)
n.3985C>G
c.3886C>G (p.Leu1296Val)
c.2791C>G (p.Leu931Val)
c.2380C>G (p.Leu794Val)
n.3903C>G
5g.13870823G>TCA359231538DNAH5c.3778C>A (p.Leu1260Met)
c.3733C>A (p.Leu1245Met)
n.3985C>A
c.3886C>A (p.Leu1296Met)
c.2791C>A (p.Leu931Met)
c.2380C>A (p.Leu794Met)
n.3903C>A
5g.13870824C>ACA113981265DNAH5c.3777G>T (p.Ala1259=)
c.3732G>T (p.Ala1244=)
n.3984G>T
c.3885G>T (p.Ala1295=)
c.2790G>T (p.Ala930=)
c.2379G>T (p.Ala793=)
n.3902G>T
 dbSNP
5g.13870824C=CA1528476335DNAH5c.3777G= (p.Ala1259=)
c.3732G= (p.Ala1244=)
n.3984G=
c.3885G= (p.Ala1295=)
c.2790G= (p.Ala930=)
c.2379G= (p.Ala793=)
n.3902G=
5g.13870824C>GCA113981270DNAH5c.3777G>C (p.Ala1259=)
c.3732G>C (p.Ala1244=)
n.3984G>C
c.3885G>C (p.Ala1295=)
c.2790G>C (p.Ala930=)
c.2379G>C (p.Ala793=)
n.3902G>C
 ClinVar dbSNP gnomAD v4
5g.13870824C>TCA3204177DNAH5c.3777G>A (p.Ala1259=)
c.3732G>A (p.Ala1244=)
n.3984G>A
c.3885G>A (p.Ala1295=)
c.2790G>A (p.Ala930=)
c.2379G>A (p.Ala793=)
n.3902G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870825G>ACA3204178DNAH5c.3776C>T (p.Ala1259Val)
c.3731C>T (p.Ala1244Val)
n.3983C>T
c.3884C>T (p.Ala1295Val)
c.2789C>T (p.Ala930Val)
c.2378C>T (p.Ala793Val)
n.3901C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870825G>CCA359231545DNAH5c.3776C>G (p.Ala1259Gly)
c.3731C>G (p.Ala1244Gly)
n.3983C>G
c.3884C>G (p.Ala1295Gly)
c.2789C>G (p.Ala930Gly)
c.2378C>G (p.Ala793Gly)
n.3901C>G
5g.13870825G=CA1528476337DNAH5c.3776C= (p.Ala1259=)
c.3731C= (p.Ala1244=)
n.3983C=
c.3884C= (p.Ala1295=)
c.2789C= (p.Ala930=)
c.2378C= (p.Ala793=)
n.3901C=
5g.13870825G>TCA359231542DNAH5c.3776C>A (p.Ala1259Glu)
c.3731C>A (p.Ala1244Glu)
n.3983C>A
c.3884C>A (p.Ala1295Glu)
c.2789C>A (p.Ala930Glu)
c.2378C>A (p.Ala793Glu)
n.3901C>A
5g.13870826C>ACA359231546DNAH5c.3775G>T (p.Ala1259Ser)
c.3730G>T (p.Ala1244Ser)
n.3982G>T
c.3883G>T (p.Ala1295Ser)
c.2788G>T (p.Ala930Ser)
c.2377G>T (p.Ala793Ser)
n.3900G>T
5g.13870826C=CA1528476339DNAH5c.3775G= (p.Ala1259=)
c.3730G= (p.Ala1244=)
n.3982G=
c.3883G= (p.Ala1295=)
c.2788G= (p.Ala930=)
c.2377G= (p.Ala793=)
n.3900G=
5g.13870826C>GCA359231549DNAH5c.3775G>C (p.Ala1259Pro)
c.3730G>C (p.Ala1244Pro)
n.3982G>C
c.3883G>C (p.Ala1295Pro)
c.2788G>C (p.Ala930Pro)
c.2377G>C (p.Ala793Pro)
n.3900G>C
 gnomAD v4
5g.13870826C>TCA242431DNAH5c.3775G>A (p.Ala1259Thr)
c.3730G>A (p.Ala1244Thr)
n.3982G>A
c.3883G>A (p.Ala1295Thr)
c.2788G>A (p.Ala930Thr)
c.2377G>A (p.Ala793Thr)
n.3900G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870827delCA2697547069DNAH5c.3774del (p.Ala1259ArgfsTer2)
c.3729del (p.Ala1244ArgfsTer2)
n.3981del
c.3882del (p.Ala1295ArgfsTer2)
c.2787del (p.Ala930ArgfsTer2)
c.2376del (p.Ala793ArgfsTer2)
n.3899del
 ClinVar
5g.13870827T>ACA443535305DNAH5c.3774A>T (p.Ala1258=)
c.3729A>T (p.Ala1243=)
n.3981A>T
c.3882A>T (p.Ala1294=)
c.2787A>T (p.Ala929=)
c.2376A>T (p.Ala792=)
n.3899A>T
5g.13870827T>CCA443535306DNAH5c.3774A>G (p.Ala1258=)
c.3729A>G (p.Ala1243=)
n.3981A>G
c.3882A>G (p.Ala1294=)
c.2787A>G (p.Ala929=)
c.2376A>G (p.Ala792=)
n.3899A>G
5g.13870827T>GCA443535307DNAH5c.3774A>C (p.Ala1258=)
c.3729A>C (p.Ala1243=)
n.3981A>C
c.3882A>C (p.Ala1294=)
c.2787A>C (p.Ala929=)
c.2376A>C (p.Ala792=)
n.3899A>C
 gnomAD v4
5g.13870828G>ACA359231553DNAH5c.3773C>T (p.Ala1258Val)
c.3728C>T (p.Ala1243Val)
n.3980C>T
c.3881C>T (p.Ala1294Val)
c.2786C>T (p.Ala929Val)
c.2375C>T (p.Ala792Val)
n.3898C>T
5g.13870828G>CCA359231555DNAH5c.3773C>G (p.Ala1258Gly)
c.3728C>G (p.Ala1243Gly)
n.3980C>G
c.3881C>G (p.Ala1294Gly)
c.2786C>G (p.Ala929Gly)
c.2375C>G (p.Ala792Gly)
n.3898C>G
5g.13870828G>TCA359231557DNAH5c.3773C>A (p.Ala1258Glu)
c.3728C>A (p.Ala1243Glu)
n.3980C>A
c.3881C>A (p.Ala1294Glu)
c.2786C>A (p.Ala929Glu)
c.2375C>A (p.Ala792Glu)
n.3898C>A
5g.13870829C>ACA359231559DNAH5c.3772G>T (p.Ala1258Ser)
c.3727G>T (p.Ala1243Ser)
n.3979G>T
c.3880G>T (p.Ala1294Ser)
c.2785G>T (p.Ala929Ser)
c.2374G>T (p.Ala792Ser)
n.3897G>T
 gnomAD v4
5g.13870829C=CA1528476341DNAH5c.3772G= (p.Ala1258=)
c.3727G= (p.Ala1243=)
n.3979G=
c.3880G= (p.Ala1294=)
c.2785G= (p.Ala929=)
c.2374G= (p.Ala792=)
n.3897G=
5g.13870829C>GCA359231561DNAH5c.3772G>C (p.Ala1258Pro)
c.3727G>C (p.Ala1243Pro)
n.3979G>C
c.3880G>C (p.Ala1294Pro)
c.2785G>C (p.Ala929Pro)
c.2374G>C (p.Ala792Pro)
n.3897G>C
5g.13870829C>TCA359231563DNAH5c.3772G>A (p.Ala1258Thr)
c.3727G>A (p.Ala1243Thr)
n.3979G>A
c.3880G>A (p.Ala1294Thr)
c.2785G>A (p.Ala929Thr)
c.2374G>A (p.Ala792Thr)
n.3897G>A
 dbSNP gnomAD v4
5g.13870830C>ACA359231564DNAH5c.3771G>T (p.Met1257Ile)
c.3726G>T (p.Met1242Ile)
n.3978G>T
c.3879G>T (p.Met1293Ile)
c.2784G>T (p.Met928Ile)
c.2373G>T (p.Met791Ile)
n.3896G>T
5g.13870830C>GCA359231565DNAH5c.3771G>C (p.Met1257Ile)
c.3726G>C (p.Met1242Ile)
n.3978G>C
c.3879G>C (p.Met1293Ile)
c.2784G>C (p.Met928Ile)
c.2373G>C (p.Met791Ile)
n.3896G>C
5g.13870830C>TCA359231566DNAH5c.3771G>A (p.Met1257Ile)
c.3726G>A (p.Met1242Ile)
n.3978G>A
c.3879G>A (p.Met1293Ile)
c.2784G>A (p.Met928Ile)
c.2373G>A (p.Met791Ile)
n.3896G>A
5g.13870831A>CCA359231567DNAH5c.3770T>G (p.Met1257Arg)
c.3725T>G (p.Met1242Arg)
n.3977T>G
c.3878T>G (p.Met1293Arg)
c.2783T>G (p.Met928Arg)
c.2372T>G (p.Met791Arg)
n.3895T>G
5g.13870831A>GCA359231569DNAH5c.3770T>C (p.Met1257Thr)
c.3725T>C (p.Met1242Thr)
n.3977T>C
c.3878T>C (p.Met1293Thr)
c.2783T>C (p.Met928Thr)
c.2372T>C (p.Met791Thr)
n.3895T>C
5g.13870831A>TCA359231568DNAH5c.3770T>A (p.Met1257Lys)
c.3725T>A (p.Met1242Lys)
n.3977T>A
c.3878T>A (p.Met1293Lys)
c.2783T>A (p.Met928Lys)
c.2372T>A (p.Met791Lys)
n.3895T>A
5g.13870832T>ACA359231570DNAH5c.3769A>T (p.Met1257Leu)
c.3724A>T (p.Met1242Leu)
n.3976A>T
c.3877A>T (p.Met1293Leu)
c.2782A>T (p.Met928Leu)
c.2371A>T (p.Met791Leu)
n.3894A>T
5g.13870832T>CCA10619129DNAH5c.3769A>G (p.Met1257Val)
c.3724A>G (p.Met1242Val)
n.3976A>G
c.3877A>G (p.Met1293Val)
c.2782A>G (p.Met928Val)
c.2371A>G (p.Met791Val)
n.3894A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13870832T>GCA359231571DNAH5c.3769A>C (p.Met1257Leu)
c.3724A>C (p.Met1242Leu)
n.3976A>C
c.3877A>C (p.Met1293Leu)
c.2782A>C (p.Met928Leu)
c.2371A>C (p.Met791Leu)
n.3894A>C
5g.13870832T=CA1528476343DNAH5c.3769A= (p.Met1257=)
c.3724A= (p.Met1242=)
n.3976A=
c.3877A= (p.Met1293=)
c.2782A= (p.Met928=)
c.2371A= (p.Met791=)
n.3894A=
5g.13870833T>ACA443535308DNAH5c.3768A>T (p.Ala1256=)
c.3723A>T (p.Ala1241=)
n.3975A>T
c.3876A>T (p.Ala1292=)
c.2781A>T (p.Ala927=)
c.2370A>T (p.Ala790=)
n.3893A>T
5g.13870833T>CCA443535309DNAH5c.3768A>G (p.Ala1256=)
c.3723A>G (p.Ala1241=)
n.3975A>G
c.3876A>G (p.Ala1292=)
c.2781A>G (p.Ala927=)
c.2370A>G (p.Ala790=)
n.3893A>G
5g.13870833T>GCA443535310DNAH5c.3768A>C (p.Ala1256=)
c.3723A>C (p.Ala1241=)
n.3975A>C
c.3876A>C (p.Ala1292=)
c.2781A>C (p.Ala927=)
c.2370A>C (p.Ala790=)
n.3893A>C
5g.13870834G>ACA3204179DNAH5c.3767C>T (p.Ala1256Val)
c.3722C>T (p.Ala1241Val)
n.3974C>T
c.3875C>T (p.Ala1292Val)
c.2780C>T (p.Ala927Val)
c.2369C>T (p.Ala790Val)
n.3892C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870834G>CCA359231572DNAH5c.3767C>G (p.Ala1256Gly)
c.3722C>G (p.Ala1241Gly)
n.3974C>G
c.3875C>G (p.Ala1292Gly)
c.2780C>G (p.Ala927Gly)
c.2369C>G (p.Ala790Gly)
n.3892C>G
5g.13870834G=CA1528476346DNAH5c.3767C= (p.Ala1256=)
c.3722C= (p.Ala1241=)
n.3974C=
c.3875C= (p.Ala1292=)
c.2780C= (p.Ala927=)
c.2369C= (p.Ala790=)
n.3892C=
5g.13870834G>TCA359231573DNAH5c.3767C>A (p.Ala1256Glu)
c.3722C>A (p.Ala1241Glu)
n.3974C>A
c.3875C>A (p.Ala1292Glu)
c.2780C>A (p.Ala927Glu)
c.2369C>A (p.Ala790Glu)
n.3892C>A
5g.13870834_13870835insACTTTCA2580072050DNAH5c.3766_3767insAAAGT (p.Ala1256GlufsTer7)
c.3721_3722insAAAGT (p.Ala1241GlufsTer7)
n.3973_3974insAAAGT
c.3874_3875insAAAGT (p.Ala1292GlufsTer7)
c.2779_2780insAAAGT (p.Ala927GlufsTer7)
c.2368_2369insAAAGT (p.Ala790GlufsTer7)
n.3891_3892insAAAGT
 ClinVar
5g.13870835C>ACA359231578DNAH5c.3766G>T (p.Ala1256Ser)
c.3721G>T (p.Ala1241Ser)
n.3973G>T
c.3874G>T (p.Ala1292Ser)
c.2779G>T (p.Ala927Ser)
c.2368G>T (p.Ala790Ser)
n.3891G>T
5g.13870835C=CA1528476348DNAH5c.3766G= (p.Ala1256=)
c.3721G= (p.Ala1241=)
n.3973G=
c.3874G= (p.Ala1292=)
c.2779G= (p.Ala927=)
c.2368G= (p.Ala790=)
n.3891G=
5g.13870835C>GCA359231592DNAH5c.3766G>C (p.Ala1256Pro)
c.3721G>C (p.Ala1241Pro)
n.3973G>C
c.3874G>C (p.Ala1292Pro)
c.2779G>C (p.Ala927Pro)
c.2368G>C (p.Ala790Pro)
n.3891G>C
5g.13870835C>TCA113981312DNAH5c.3766G>A (p.Ala1256Thr)
c.3721G>A (p.Ala1241Thr)
n.3973G>A
c.3874G>A (p.Ala1292Thr)
c.2779G>A (p.Ala927Thr)
c.2368G>A (p.Ala790Thr)
n.3891G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13870836A>CCA359231607DNAH5c.3765T>G (p.Ile1255Met)
c.3720T>G (p.Ile1240Met)
n.3972T>G
c.3873T>G (p.Ile1291Met)
c.2778T>G (p.Ile926Met)
c.2367T>G (p.Ile789Met)
n.3890T>G
5g.13870836A>GCA443535312DNAH5c.3765T>C (p.Ile1255=)
c.3720T>C (p.Ile1240=)
n.3972T>C
c.3873T>C (p.Ile1291=)
c.2778T>C (p.Ile926=)
c.2367T>C (p.Ile789=)
n.3890T>C
5g.13870836A>TCA443535311DNAH5c.3765T>A (p.Ile1255=)
c.3720T>A (p.Ile1240=)
n.3972T>A
c.3873T>A (p.Ile1291=)
c.2778T>A (p.Ile926=)
c.2367T>A (p.Ile789=)
n.3890T>A
5g.13870837A>CCA359231620DNAH5c.3764T>G (p.Ile1255Ser)
c.3719T>G (p.Ile1240Ser)
n.3971T>G
c.3872T>G (p.Ile1291Ser)
c.2777T>G (p.Ile926Ser)
c.2366T>G (p.Ile789Ser)
n.3889T>G
5g.13870837A>GCA359231613DNAH5c.3764T>C (p.Ile1255Thr)
c.3719T>C (p.Ile1240Thr)
n.3971T>C
c.3872T>C (p.Ile1291Thr)
c.2777T>C (p.Ile926Thr)
c.2366T>C (p.Ile789Thr)
n.3889T>C
5g.13870837A>TCA359231610DNAH5c.3764T>A (p.Ile1255Asn)
c.3719T>A (p.Ile1240Asn)
n.3971T>A
c.3872T>A (p.Ile1291Asn)
c.2777T>A (p.Ile926Asn)
c.2366T>A (p.Ile789Asn)
n.3889T>A
5g.13870838delCA2578270844DNAH5c.3763del (p.Ile1255LeufsTer6)
c.3718del (p.Ile1240LeufsTer6)
n.3970del
c.3871del (p.Ile1291LeufsTer6)
c.2776del (p.Ile926LeufsTer6)
c.2365del (p.Ile789LeufsTer6)
n.3888del
5g.13870838T>ACA359231625DNAH5c.3763A>T (p.Ile1255Phe)
c.3718A>T (p.Ile1240Phe)
n.3970A>T
c.3871A>T (p.Ile1291Phe)
c.2776A>T (p.Ile926Phe)
c.2365A>T (p.Ile789Phe)
n.3888A>T
5g.13870838T>CCA359231622DNAH5c.3763A>G (p.Ile1255Val)
c.3718A>G (p.Ile1240Val)
n.3970A>G
c.3871A>G (p.Ile1291Val)
c.2776A>G (p.Ile926Val)
c.2365A>G (p.Ile789Val)
n.3888A>G
5g.13870838T>GCA359231624DNAH5c.3763A>C (p.Ile1255Leu)
c.3718A>C (p.Ile1240Leu)
n.3970A>C
c.3871A>C (p.Ile1291Leu)
c.2776A>C (p.Ile926Leu)
c.2365A>C (p.Ile789Leu)
n.3888A>C
5g.13870839C>ACA443535313DNAH5c.3762G>T (p.Arg1254=)
c.3717G>T (p.Arg1239=)
n.3969G>T
c.3870G>T (p.Arg1290=)
c.2775G>T (p.Arg925=)
c.2364G>T (p.Arg788=)
n.3887G>T
 gnomAD v4
5g.13870839C>GCA443535314DNAH5c.3762G>C (p.Arg1254=)
c.3717G>C (p.Arg1239=)
n.3969G>C
c.3870G>C (p.Arg1290=)
c.2775G>C (p.Arg925=)
c.2364G>C (p.Arg788=)
n.3887G>C
5g.13870839C>TCA443535315DNAH5c.3762G>A (p.Arg1254=)
c.3717G>A (p.Arg1239=)
n.3969G>A
c.3870G>A (p.Arg1290=)
c.2775G>A (p.Arg925=)
c.2364G>A (p.Arg788=)
n.3887G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13870840C>ACA359231627DNAH5c.3761G>T (p.Arg1254Leu)
c.3716G>T (p.Arg1239Leu)
n.3968G>T
c.3869G>T (p.Arg1290Leu)
c.2774G>T (p.Arg925Leu)
c.2363G>T (p.Arg788Leu)
n.3886G>T
5g.13870840C=CA1528476350DNAH5c.3761G= (p.Arg1254=)
c.3716G= (p.Arg1239=)
n.3968G=
c.3869G= (p.Arg1290=)
c.2774G= (p.Arg925=)
c.2363G= (p.Arg788=)
n.3886G=
5g.13870840C>GCA359231629DNAH5c.3761G>C (p.Arg1254Pro)
c.3716G>C (p.Arg1239Pro)
n.3968G>C
c.3869G>C (p.Arg1290Pro)
c.2774G>C (p.Arg925Pro)
c.2363G>C (p.Arg788Pro)
n.3886G>C
5g.13870840C>TCA3204180DNAH5c.3761G>A (p.Arg1254Gln)
c.3716G>A (p.Arg1239Gln)
n.3968G>A
c.3869G>A (p.Arg1290Gln)
c.2774G>A (p.Arg925Gln)
c.2363G>A (p.Arg788Gln)
n.3886G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870841G>ACA3204181DNAH5c.3760C>T (p.Arg1254Trp)
c.3715C>T (p.Arg1239Trp)
n.3967C>T
c.3868C>T (p.Arg1290Trp)
c.2773C>T (p.Arg925Trp)
c.2362C>T (p.Arg788Trp)
n.3885C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870841G>CCA359231638DNAH5c.3760C>G (p.Arg1254Gly)
c.3715C>G (p.Arg1239Gly)
n.3967C>G
c.3868C>G (p.Arg1290Gly)
c.2773C>G (p.Arg925Gly)
c.2362C>G (p.Arg788Gly)
n.3885C>G
5g.13870841G=CA1528476351DNAH5c.3760C= (p.Arg1254=)
c.3715C= (p.Arg1239=)
n.3967C=
c.3868C= (p.Arg1290=)
c.2773C= (p.Arg925=)
c.2362C= (p.Arg788=)
n.3885C=
5g.13870841G>TCA3204182DNAH5c.3760C>A (p.Arg1254=)
c.3715C>A (p.Arg1239=)
n.3967C>A
c.3868C>A (p.Arg1290=)
c.2773C>A (p.Arg925=)
c.2362C>A (p.Arg788=)
n.3885C>A
 dbSNP ExAC
5g.13870842A>CCA359231643DNAH5c.3759T>G (p.Ile1253Met)
c.3714T>G (p.Ile1238Met)
n.3966T>G
c.3867T>G (p.Ile1289Met)
c.2772T>G (p.Ile924Met)
c.2361T>G (p.Ile787Met)
n.3884T>G
5g.13870842A>GCA443535316DNAH5c.3759T>C (p.Ile1253=)
c.3714T>C (p.Ile1238=)
n.3966T>C
c.3867T>C (p.Ile1289=)
c.2772T>C (p.Ile924=)
c.2361T>C (p.Ile787=)
n.3884T>C
 COSMIC
5g.13870842A>TCA443535317DNAH5c.3759T>A (p.Ile1253=)
c.3714T>A (p.Ile1238=)
n.3966T>A
c.3867T>A (p.Ile1289=)
c.2772T>A (p.Ile924=)
c.2361T>A (p.Ile787=)
n.3884T>A
5g.13870843A=CA1528476353DNAH5c.3758T= (p.Ile1253=)
c.3713T= (p.Ile1238=)
n.3965T=
c.3866T= (p.Ile1289=)
c.2771T= (p.Ile924=)
c.2360T= (p.Ile787=)
n.3883T=
5g.13870843A>CCA359231645DNAH5c.3758T>G (p.Ile1253Ser)
c.3713T>G (p.Ile1238Ser)
n.3965T>G
c.3866T>G (p.Ile1289Ser)
c.2771T>G (p.Ile924Ser)
c.2360T>G (p.Ile787Ser)
n.3883T>G
5g.13870843A>GCA3204183DNAH5c.3758T>C (p.Ile1253Thr)
c.3713T>C (p.Ile1238Thr)
n.3965T>C
c.3866T>C (p.Ile1289Thr)
c.2771T>C (p.Ile924Thr)
c.2360T>C (p.Ile787Thr)
n.3883T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870843A>TCA359231651DNAH5c.3758T>A (p.Ile1253Asn)
c.3713T>A (p.Ile1238Asn)
n.3965T>A
c.3866T>A (p.Ile1289Asn)
c.2771T>A (p.Ile924Asn)
c.2360T>A (p.Ile787Asn)
n.3883T>A
 gnomAD v4
5g.13870844T>ACA359231659DNAH5c.3757A>T (p.Ile1253Phe)
c.3712A>T (p.Ile1238Phe)
n.3964A>T
c.3865A>T (p.Ile1289Phe)
c.2770A>T (p.Ile924Phe)
c.2359A>T (p.Ile787Phe)
n.3882A>T
5g.13870844T>CCA359231656DNAH5c.3757A>G (p.Ile1253Val)
c.3712A>G (p.Ile1238Val)
n.3964A>G
c.3865A>G (p.Ile1289Val)
c.2770A>G (p.Ile924Val)
c.2359A>G (p.Ile787Val)
n.3882A>G
 dbSNP gnomAD v4
5g.13870844T>GCA359231654DNAH5c.3757A>C (p.Ile1253Leu)
c.3712A>C (p.Ile1238Leu)
n.3964A>C
c.3865A>C (p.Ile1289Leu)
c.2770A>C (p.Ile924Leu)
c.2359A>C (p.Ile787Leu)
n.3882A>C
5g.13870844T=CA1528476357DNAH5c.3757A= (p.Ile1253=)
c.3712A= (p.Ile1238=)
n.3964A=
c.3865A= (p.Ile1289=)
c.2770A= (p.Ile924=)
c.2359A= (p.Ile787=)
n.3882A=
5g.13870845A>CCA359231660DNAH5c.3756T>G (p.Asp1252Glu)
c.3711T>G (p.Asp1237Glu)
n.3963T>G
c.3864T>G (p.Asp1288Glu)
c.2769T>G (p.Asp923Glu)
c.2358T>G (p.Asp786Glu)
n.3881T>G
5g.13870845A>GCA443535318DNAH5c.3756T>C (p.Asp1252=)
c.3711T>C (p.Asp1237=)
n.3963T>C
c.3864T>C (p.Asp1288=)
c.2769T>C (p.Asp923=)
c.2358T>C (p.Asp786=)
n.3881T>C
5g.13870845A>TCA359231661DNAH5c.3756T>A (p.Asp1252Glu)
c.3711T>A (p.Asp1237Glu)
n.3963T>A
c.3864T>A (p.Asp1288Glu)
c.2769T>A (p.Asp923Glu)
c.2358T>A (p.Asp786Glu)
n.3881T>A
5g.13870846T>ACA359231662DNAH5c.3755A>T (p.Asp1252Val)
c.3710A>T (p.Asp1237Val)
n.3962A>T
c.3863A>T (p.Asp1288Val)
c.2768A>T (p.Asp923Val)
c.2357A>T (p.Asp786Val)
n.3880A>T
5g.13870846T>CCA359231663DNAH5c.3755A>G (p.Asp1252Gly)
c.3710A>G (p.Asp1237Gly)
n.3962A>G
c.3863A>G (p.Asp1288Gly)
c.2768A>G (p.Asp923Gly)
c.2357A>G (p.Asp786Gly)
n.3880A>G
 COSMIC
5g.13870846T>GCA3204184DNAH5c.3755A>C (p.Asp1252Ala)
c.3710A>C (p.Asp1237Ala)
n.3962A>C
c.3863A>C (p.Asp1288Ala)
c.2768A>C (p.Asp923Ala)
c.2357A>C (p.Asp786Ala)
n.3880A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870846T=CA1528476360DNAH5c.3755A= (p.Asp1252=)
c.3710A= (p.Asp1237=)
n.3962A=
c.3863A= (p.Asp1288=)
c.2768A= (p.Asp923=)
c.2357A= (p.Asp786=)
n.3880A=
5g.13870847C>ACA359231664DNAH5c.3754G>T (p.Asp1252Tyr)
c.3709G>T (p.Asp1237Tyr)
n.3961G>T
c.3862G>T (p.Asp1288Tyr)
c.2767G>T (p.Asp923Tyr)
c.2356G>T (p.Asp786Tyr)
n.3879G>T
5g.13870847C>GCA359231665DNAH5c.3754G>C (p.Asp1252His)
c.3709G>C (p.Asp1237His)
n.3961G>C
c.3862G>C (p.Asp1288His)
c.2767G>C (p.Asp923His)
c.2356G>C (p.Asp786His)
n.3879G>C
5g.13870847C>TCA359231667DNAH5c.3754G>A (p.Asp1252Asn)
c.3709G>A (p.Asp1237Asn)
n.3961G>A
c.3862G>A (p.Asp1288Asn)
c.2767G>A (p.Asp923Asn)
c.2356G>A (p.Asp786Asn)
n.3879G>A
5g.13870848A=CA1528476363DNAH5c.3753T= (p.Asp1251=)
c.3708T= (p.Asp1236=)
n.3960T=
c.3861T= (p.Asp1287=)
c.2766T= (p.Asp922=)
c.2355T= (p.Asp785=)
n.3878T=
5g.13870848A>CCA359231668DNAH5c.3753T>G (p.Asp1251Glu)
c.3708T>G (p.Asp1236Glu)
n.3960T>G
c.3861T>G (p.Asp1287Glu)
c.2766T>G (p.Asp922Glu)
c.2355T>G (p.Asp785Glu)
n.3878T>G
5g.13870848A>GCA16611818DNAH5c.3753T>C (p.Asp1251=)
c.3708T>C (p.Asp1236=)
n.3960T>C
c.3861T>C (p.Asp1287=)
c.2766T>C (p.Asp922=)
c.2355T>C (p.Asp785=)
n.3878T>C
 ClinVar dbSNP gnomAD v4
5g.13870848A>TCA359231670DNAH5c.3753T>A (p.Asp1251Glu)
c.3708T>A (p.Asp1236Glu)
n.3960T>A
c.3861T>A (p.Asp1287Glu)
c.2766T>A (p.Asp922Glu)
c.2355T>A (p.Asp785Glu)
n.3878T>A
5g.13870849T>ACA359231678DNAH5c.3752A>T (p.Asp1251Val)
c.3707A>T (p.Asp1236Val)
n.3959A>T
c.3860A>T (p.Asp1287Val)
c.2765A>T (p.Asp922Val)
c.2354A>T (p.Asp785Val)
n.3877A>T
5g.13870849T>CCA359231681DNAH5c.3752A>G (p.Asp1251Gly)
c.3707A>G (p.Asp1236Gly)
n.3959A>G
c.3860A>G (p.Asp1287Gly)
c.2765A>G (p.Asp922Gly)
c.2354A>G (p.Asp785Gly)
n.3877A>G
 dbSNP
5g.13870849T>GCA359231686DNAH5c.3752A>C (p.Asp1251Ala)
c.3707A>C (p.Asp1236Ala)
n.3959A>C
c.3860A>C (p.Asp1287Ala)
c.2765A>C (p.Asp922Ala)
c.2354A>C (p.Asp785Ala)
n.3877A>C
5g.13870849T=CA1528476365DNAH5c.3752A= (p.Asp1251=)
c.3707A= (p.Asp1236=)
n.3959A=
c.3860A= (p.Asp1287=)
c.2765A= (p.Asp922=)
c.2354A= (p.Asp785=)
n.3877A=
5g.13870850C>ACA359231691DNAH5c.3751G>T (p.Asp1251Tyr)
c.3706G>T (p.Asp1236Tyr)
n.3958G>T
c.3859G>T (p.Asp1287Tyr)
c.2764G>T (p.Asp922Tyr)
c.2353G>T (p.Asp785Tyr)
n.3876G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13870850C=CA1528476366DNAH5c.3751G= (p.Asp1251=)
c.3706G= (p.Asp1236=)
n.3958G=
c.3859G= (p.Asp1287=)
c.2764G= (p.Asp922=)
c.2353G= (p.Asp785=)
n.3876G=
5g.13870850C>GCA359231693DNAH5c.3751G>C (p.Asp1251His)
c.3706G>C (p.Asp1236His)
n.3958G>C
c.3859G>C (p.Asp1287His)
c.2764G>C (p.Asp922His)
c.2353G>C (p.Asp785His)
n.3876G>C
 gnomAD v4
5g.13870850C>TCA359231689DNAH5c.3751G>A (p.Asp1251Asn)
c.3706G>A (p.Asp1236Asn)
n.3958G>A
c.3859G>A (p.Asp1287Asn)
c.2764G>A (p.Asp922Asn)
c.2353G>A (p.Asp785Asn)
n.3876G>A
5g.13870851T>ACA3204185DNAH5c.3750A>T (p.Leu1250=)
c.3705A>T (p.Leu1235=)
n.3957A>T
c.3858A>T (p.Leu1286=)
c.2763A>T (p.Leu921=)
c.2352A>T (p.Leu784=)
n.3875A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870851T>CCA3204186DNAH5c.3750A>G (p.Leu1250=)
c.3705A>G (p.Leu1235=)
n.3957A>G
c.3858A>G (p.Leu1286=)
c.2763A>G (p.Leu921=)
c.2352A>G (p.Leu784=)
n.3875A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870851T>GCA443535319DNAH5c.3750A>C (p.Leu1250=)
c.3705A>C (p.Leu1235=)
n.3957A>C
c.3858A>C (p.Leu1286=)
c.2763A>C (p.Leu921=)
c.2352A>C (p.Leu784=)
n.3875A>C
5g.13870851T=CA1528476368DNAH5c.3750A= (p.Leu1250=)
c.3705A= (p.Leu1235=)
n.3957A=
c.3858A= (p.Leu1286=)
c.2763A= (p.Leu921=)
c.2352A= (p.Leu784=)
n.3875A=
5g.13870852A>CCA359231701DNAH5c.3749T>G (p.Leu1250Arg)
c.3704T>G (p.Leu1235Arg)
n.3956T>G
c.3857T>G (p.Leu1286Arg)
c.2762T>G (p.Leu921Arg)
c.2351T>G (p.Leu784Arg)
n.3874T>G
5g.13870852A>GCA359231702DNAH5c.3749T>C (p.Leu1250Pro)
c.3704T>C (p.Leu1235Pro)
n.3956T>C
c.3857T>C (p.Leu1286Pro)
c.2762T>C (p.Leu921Pro)
c.2351T>C (p.Leu784Pro)
n.3874T>C
5g.13870852A>TCA359231703DNAH5c.3749T>A (p.Leu1250Gln)
c.3704T>A (p.Leu1235Gln)
n.3956T>A
c.3857T>A (p.Leu1286Gln)
c.2762T>A (p.Leu921Gln)
c.2351T>A (p.Leu784Gln)
n.3874T>A
5g.13870853G>ACA443535320DNAH5c.3748C>T (p.Leu1250=)
c.3703C>T (p.Leu1235=)
n.3955C>T
c.3856C>T (p.Leu1286=)
c.2761C>T (p.Leu921=)
c.2350C>T (p.Leu784=)
n.3873C>T
5g.13870853G>CCA113981330DNAH5c.3748C>G (p.Leu1250Val)
c.3703C>G (p.Leu1235Val)
n.3955C>G
c.3856C>G (p.Leu1286Val)
c.2761C>G (p.Leu921Val)
c.2350C>G (p.Leu784Val)
n.3873C>G
 dbSNP gnomAD v2 gnomAD v4
5g.13870853G=CA1528476370DNAH5c.3748C= (p.Leu1250=)
c.3703C= (p.Leu1235=)
n.3955C=
c.3856C= (p.Leu1286=)
c.2761C= (p.Leu921=)
c.2350C= (p.Leu784=)
n.3873C=
5g.13870853G>TCA359231705DNAH5c.3748C>A (p.Leu1250Ile)
c.3703C>A (p.Leu1235Ile)
n.3955C>A
c.3856C>A (p.Leu1286Ile)
c.2761C>A (p.Leu921Ile)
c.2350C>A (p.Leu784Ile)
n.3873C>A
 gnomAD v4
5g.13870854delCA2673276438DNAH5c.3748del (p.Leu1250Ter)
c.3703del (p.Leu1235Ter)
n.3955del
c.3856del (p.Leu1286Ter)
c.2761del (p.Leu921Ter)
c.2350del (p.Leu784Ter)
n.3873del
 gnomAD v4
5g.13870854G>ACA443535321DNAH5c.3747C>T (p.Asp1249=)
c.3702C>T (p.Asp1234=)
n.3954C>T
c.3855C>T (p.Asp1285=)
c.2760C>T (p.Asp920=)
c.2349C>T (p.Asp783=)
n.3872C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870854G>CCA359231707DNAH5c.3747C>G (p.Asp1249Glu)
c.3702C>G (p.Asp1234Glu)
n.3954C>G
c.3855C>G (p.Asp1285Glu)
c.2760C>G (p.Asp920Glu)
c.2349C>G (p.Asp783Glu)
n.3872C>G
5g.13870854G=CA1528476371DNAH5c.3747C= (p.Asp1249=)
c.3702C= (p.Asp1234=)
n.3954C=
c.3855C= (p.Asp1285=)
c.2760C= (p.Asp920=)
c.2349C= (p.Asp783=)
n.3872C=
5g.13870854G>TCA359231714DNAH5c.3747C>A (p.Asp1249Glu)
c.3702C>A (p.Asp1234Glu)
n.3954C>A
c.3855C>A (p.Asp1285Glu)
c.2760C>A (p.Asp920Glu)
c.2349C>A (p.Asp783Glu)
n.3872C>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched