Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13866218A=CA1528476221DNAH5c.4116+2T= (n.4116+2T=)
c.4071+2T= (n.4071+2T=)
n.4323+2T=
c.4224+2T= (n.4224+2T=)
c.3129+2T= (n.3129+2T=)
c.2718+2T= (n.2718+2T=)
n.4241+2T=
5g.13866218A>CCA359226047DNAH5c.4116+2T>G (n.4116+2T>G)
c.4071+2T>G (n.4071+2T>G)
n.4323+2T>G
c.4224+2T>G (n.4224+2T>G)
c.3129+2T>G (n.3129+2T>G)
c.2718+2T>G (n.2718+2T>G)
n.4241+2T>G
 dbSNP
5g.13866218A>GCA359226052DNAH5c.4116+2T>C (n.4116+2T>C)
c.4071+2T>C (n.4071+2T>C)
n.4323+2T>C
c.4224+2T>C (n.4224+2T>C)
c.3129+2T>C (n.3129+2T>C)
c.2718+2T>C (n.2718+2T>C)
n.4241+2T>C
5g.13866218A>TCA359226057DNAH5c.4116+2T>A (n.4116+2T>A)
c.4071+2T>A (n.4071+2T>A)
n.4323+2T>A
c.4224+2T>A (n.4224+2T>A)
c.3129+2T>A (n.3129+2T>A)
c.2718+2T>A (n.2718+2T>A)
n.4241+2T>A
5g.13866219C>ACA359226066DNAH5c.4116+1G>T (n.4116+1G>T)
c.4071+1G>T (n.4071+1G>T)
n.4323+1G>T
c.4224+1G>T (n.4224+1G>T)
c.3129+1G>T (n.3129+1G>T)
c.2718+1G>T (n.2718+1G>T)
n.4241+1G>T
5g.13866219C>GCA359226067DNAH5c.4116+1G>C (n.4116+1G>C)
c.4071+1G>C (n.4071+1G>C)
n.4323+1G>C
c.4224+1G>C (n.4224+1G>C)
c.3129+1G>C (n.3129+1G>C)
c.2718+1G>C (n.2718+1G>C)
n.4241+1G>C
5g.13866219C>TCA359226071DNAH5c.4116+1G>A (n.4116+1G>A)
c.4071+1G>A (n.4071+1G>A)
n.4323+1G>A
c.4224+1G>A (n.4224+1G>A)
c.3129+1G>A (n.3129+1G>A)
c.2718+1G>A (n.2718+1G>A)
n.4241+1G>A
 gnomAD v4
5g.13866220C>ACA359226073DNAH5c.4116G>T (p.Gln1372His)
c.4071G>T (p.Gln1357His)
n.4323G>T
c.4224G>T (p.Gln1408His)
c.3129G>T (p.Gln1043His)
c.2718G>T (p.Gln906His)
n.4241G>T
5g.13866220C=CA1528476225DNAH5c.4116G= (p.Gln1372=)
c.4071G= (p.Gln1357=)
n.4323G=
c.4224G= (p.Gln1408=)
c.3129G= (p.Gln1043=)
c.2718G= (p.Gln906=)
n.4241G=
5g.13866220C>GCA3204076DNAH5c.4116G>C (p.Gln1372His)
c.4071G>C (p.Gln1357His)
n.4323G>C
c.4224G>C (p.Gln1408His)
c.3129G>C (p.Gln1043His)
c.2718G>C (p.Gln906His)
n.4241G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866220C>TCA443263280DNAH5c.4116G>A (p.Gln1372=)
c.4071G>A (p.Gln1357=)
n.4323G>A
c.4224G>A (p.Gln1408=)
c.3129G>A (p.Gln1043=)
c.2718G>A (p.Gln906=)
n.4241G>A
5g.13866221T>ACA359226076DNAH5c.4115A>T (p.Gln1372Leu)
c.4070A>T (p.Gln1357Leu)
n.4322A>T
c.4223A>T (p.Gln1408Leu)
c.3128A>T (p.Gln1043Leu)
c.2717A>T (p.Gln906Leu)
n.4240A>T
5g.13866221T>CCA359226079DNAH5c.4115A>G (p.Gln1372Arg)
c.4070A>G (p.Gln1357Arg)
n.4322A>G
c.4223A>G (p.Gln1408Arg)
c.3128A>G (p.Gln1043Arg)
c.2717A>G (p.Gln906Arg)
n.4240A>G
5g.13866221T>GCA3204077DNAH5c.4115A>C (p.Gln1372Pro)
c.4070A>C (p.Gln1357Pro)
n.4322A>C
c.4223A>C (p.Gln1408Pro)
c.3128A>C (p.Gln1043Pro)
c.2717A>C (p.Gln906Pro)
n.4240A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866221T=CA1528476234DNAH5c.4115A= (p.Gln1372=)
c.4070A= (p.Gln1357=)
n.4322A=
c.4223A= (p.Gln1408=)
c.3128A= (p.Gln1043=)
c.2717A= (p.Gln906=)
n.4240A=
5g.13866222G>ACA359226106DNAH5c.4114C>T (p.Gln1372Ter)
c.4069C>T (p.Gln1357Ter)
n.4321C>T
c.4222C>T (p.Gln1408Ter)
c.3127C>T (p.Gln1043Ter)
c.2716C>T (p.Gln906Ter)
n.4239C>T
5g.13866222G>CCA359226091DNAH5c.4114C>G (p.Gln1372Glu)
c.4069C>G (p.Gln1357Glu)
n.4321C>G
c.4222C>G (p.Gln1408Glu)
c.3127C>G (p.Gln1043Glu)
c.2716C>G (p.Gln906Glu)
n.4239C>G
5g.13866222G>TCA359226096DNAH5c.4114C>A (p.Gln1372Lys)
c.4069C>A (p.Gln1357Lys)
n.4321C>A
c.4222C>A (p.Gln1408Lys)
c.3127C>A (p.Gln1043Lys)
c.2716C>A (p.Gln906Lys)
n.4239C>A
5g.13866222_13866223delinsGACA1528476238DNAH5c.4113_4114delinsTC (p.Phe1371=)
c.4068_4069delinsTC (p.Phe1356=)
n.4320_4321delinsTC
c.4221_4222delinsTC (p.Phe1407=)
c.3126_3127delinsTC (p.Phe1042=)
c.2715_2716delinsTC (p.Phe905=)
n.4238_4239delinsTC
5g.13866223A=CA1528476249DNAH5c.4113T= (p.Phe1371=)
c.4068T= (p.Phe1356=)
n.4320T=
c.4221T= (p.Phe1407=)
c.3126T= (p.Phe1042=)
c.2715T= (p.Phe905=)
n.4238T=
5g.13866223A>CCA359226110DNAH5c.4113T>G (p.Phe1371Leu)
c.4068T>G (p.Phe1356Leu)
n.4320T>G
c.4221T>G (p.Phe1407Leu)
c.3126T>G (p.Phe1042Leu)
c.2715T>G (p.Phe905Leu)
n.4238T>G
 ClinVar dbSNP gnomAD v4
5g.13866223A>GCA443263281DNAH5c.4113T>C (p.Phe1371=)
c.4068T>C (p.Phe1356=)
n.4320T>C
c.4221T>C (p.Phe1407=)
c.3126T>C (p.Phe1042=)
c.2715T>C (p.Phe905=)
n.4238T>C
5g.13866223A>TCA359226111DNAH5c.4113T>A (p.Phe1371Leu)
c.4068T>A (p.Phe1356Leu)
n.4320T>A
c.4221T>A (p.Phe1407Leu)
c.3126T>A (p.Phe1042Leu)
c.2715T>A (p.Phe905Leu)
n.4238T>A
5g.13866225delCA916082689DNAH5c.4113del (p.Gln1372ArgfsTer?)
c.4068del (p.Gln1357ArgfsTer?)
n.4320del
c.4221del (p.Gln1408ArgfsTer?)
c.3126del (p.Gln1043ArgfsTer?)
c.2715del (p.Gln906ArgfsTer?)
n.4238del
 ClinVar dbSNP
5g.13866224A>CCA359226112DNAH5c.4112T>G (p.Phe1371Cys)
c.4067T>G (p.Phe1356Cys)
n.4319T>G
c.4220T>G (p.Phe1407Cys)
c.3125T>G (p.Phe1042Cys)
c.2714T>G (p.Phe905Cys)
n.4237T>G
5g.13866224A>GCA359226115DNAH5c.4112T>C (p.Phe1371Ser)
c.4067T>C (p.Phe1356Ser)
n.4319T>C
c.4220T>C (p.Phe1407Ser)
c.3125T>C (p.Phe1042Ser)
c.2714T>C (p.Phe905Ser)
n.4237T>C
5g.13866224A>TCA359226127DNAH5c.4112T>A (p.Phe1371Tyr)
c.4067T>A (p.Phe1356Tyr)
n.4319T>A
c.4220T>A (p.Phe1407Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2714T>A (p.Phe905Tyr)
n.4237T>A
5g.13866225A>CCA359226128DNAH5c.4111T>G (p.Phe1371Val)
c.4066T>G (p.Phe1356Val)
n.4318T>G
c.4219T>G (p.Phe1407Val)
c.3124T>G (p.Phe1042Val)
c.2713T>G (p.Phe905Val)
n.4236T>G
5g.13866225A>GCA359226131DNAH5c.4111T>C (p.Phe1371Leu)
c.4066T>C (p.Phe1356Leu)
n.4318T>C
c.4219T>C (p.Phe1407Leu)
c.3124T>C (p.Phe1042Leu)
c.2713T>C (p.Phe905Leu)
n.4236T>C
 gnomAD v4
5g.13866225A>TCA359226133DNAH5c.4111T>A (p.Phe1371Ile)
c.4066T>A (p.Phe1356Ile)
n.4318T>A
c.4219T>A (p.Phe1407Ile)
c.3124T>A (p.Phe1042Ile)
c.2713T>A (p.Phe905Ile)
n.4236T>A
5g.13866225_13866234delCA2580072134DNAH5c.4102_4111del (p.Leu1368PhefsTer?)
c.4057_4066del (p.Leu1353PhefsTer?)
n.4309_4318del
c.4210_4219del (p.Leu1404PhefsTer?)
c.3115_3124del (p.Leu1039PhefsTer?)
c.2704_2713del (p.Leu902PhefsTer?)
n.4227_4236del
 ClinVar
5g.13866226C>ACA359226137DNAH5c.4110G>T (p.Met1370Ile)
c.4065G>T (p.Met1355Ile)
n.4317G>T
c.4218G>T (p.Met1406Ile)
c.3123G>T (p.Met1041Ile)
c.2712G>T (p.Met904Ile)
n.4235G>T
5g.13866226C=CA1528476253DNAH5c.4110G= (p.Met1370=)
c.4065G= (p.Met1355=)
n.4317G=
c.4218G= (p.Met1406=)
c.3123G= (p.Met1041=)
c.2712G= (p.Met904=)
n.4235G=
5g.13866226C>GCA359226139DNAH5c.4110G>C (p.Met1370Ile)
c.4065G>C (p.Met1355Ile)
n.4317G>C
c.4218G>C (p.Met1406Ile)
c.3123G>C (p.Met1041Ile)
c.2712G>C (p.Met904Ile)
n.4235G>C
5g.13866226C>TCA359226142DNAH5c.4110G>A (p.Met1370Ile)
c.4065G>A (p.Met1355Ile)
n.4317G>A
c.4218G>A (p.Met1406Ile)
c.3123G>A (p.Met1041Ile)
c.2712G>A (p.Met904Ile)
n.4235G>A
 dbSNP gnomAD v4
5g.13866227A>CCA359226145DNAH5c.4109T>G (p.Met1370Arg)
c.4064T>G (p.Met1355Arg)
n.4316T>G
c.4217T>G (p.Met1406Arg)
c.3122T>G (p.Met1041Arg)
c.2711T>G (p.Met904Arg)
n.4234T>G
5g.13866227A>GCA359226144DNAH5c.4109T>C (p.Met1370Thr)
c.4064T>C (p.Met1355Thr)
n.4316T>C
c.4217T>C (p.Met1406Thr)
c.3122T>C (p.Met1041Thr)
c.2711T>C (p.Met904Thr)
n.4234T>C
5g.13866227A>TCA359226143DNAH5c.4109T>A (p.Met1370Lys)
c.4064T>A (p.Met1355Lys)
n.4316T>A
c.4217T>A (p.Met1406Lys)
c.3122T>A (p.Met1041Lys)
c.2711T>A (p.Met904Lys)
n.4234T>A
 gnomAD v4
5g.13866228T>ACA359226146DNAH5c.4108A>T (p.Met1370Leu)
c.4063A>T (p.Met1355Leu)
n.4315A>T
c.4216A>T (p.Met1406Leu)
c.3121A>T (p.Met1041Leu)
c.2710A>T (p.Met904Leu)
n.4233A>T
 gnomAD v4
5g.13866228T>CCA359226147DNAH5c.4108A>G (p.Met1370Val)
c.4063A>G (p.Met1355Val)
n.4315A>G
c.4216A>G (p.Met1406Val)
c.3121A>G (p.Met1041Val)
c.2710A>G (p.Met904Val)
n.4233A>G
 ClinVar gnomAD v4
5g.13866228T>GCA359226149DNAH5c.4108A>C (p.Met1370Leu)
c.4063A>C (p.Met1355Leu)
n.4315A>C
c.4216A>C (p.Met1406Leu)
c.3121A>C (p.Met1041Leu)
c.2710A>C (p.Met904Leu)
n.4233A>C
5g.13866229G>ACA443263285DNAH5c.4107C>T (p.Ile1369=)
c.4062C>T (p.Ile1354=)
n.4314C>T
c.4215C>T (p.Ile1405=)
c.3120C>T (p.Ile1040=)
c.2709C>T (p.Ile903=)
n.4232C>T
5g.13866229G>CCA359226151DNAH5c.4107C>G (p.Ile1369Met)
c.4062C>G (p.Ile1354Met)
n.4314C>G
c.4215C>G (p.Ile1405Met)
c.3120C>G (p.Ile1040Met)
c.2709C>G (p.Ile903Met)
n.4232C>G
5g.13866229G=CA1528476259DNAH5c.4107C= (p.Ile1369=)
c.4062C= (p.Ile1354=)
n.4314C=
c.4215C= (p.Ile1405=)
c.3120C= (p.Ile1040=)
c.2709C= (p.Ile903=)
n.4232C=
5g.13866229G>TCA443263286DNAH5c.4107C>A (p.Ile1369=)
c.4062C>A (p.Ile1354=)
n.4314C>A
c.4215C>A (p.Ile1405=)
c.3120C>A (p.Ile1040=)
c.2709C>A (p.Ile903=)
n.4232C>A
 dbSNP
5g.13866230A=CA1528476262DNAH5c.4106T= (p.Ile1369=)
c.4061T= (p.Ile1354=)
n.4313T=
c.4214T= (p.Ile1405=)
c.3119T= (p.Ile1040=)
c.2708T= (p.Ile903=)
n.4231T=
5g.13866230A>CCA359226153DNAH5c.4106T>G (p.Ile1369Ser)
c.4061T>G (p.Ile1354Ser)
n.4313T>G
c.4214T>G (p.Ile1405Ser)
c.3119T>G (p.Ile1040Ser)
c.2708T>G (p.Ile903Ser)
n.4231T>G
5g.13866230A>GCA359226156DNAH5c.4106T>C (p.Ile1369Thr)
c.4061T>C (p.Ile1354Thr)
n.4313T>C
c.4214T>C (p.Ile1405Thr)
c.3119T>C (p.Ile1040Thr)
c.2708T>C (p.Ile903Thr)
n.4231T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13866230A>TCA359226161DNAH5c.4106T>A (p.Ile1369Asn)
c.4061T>A (p.Ile1354Asn)
n.4313T>A
c.4214T>A (p.Ile1405Asn)
c.3119T>A (p.Ile1040Asn)
c.2708T>A (p.Ile903Asn)
n.4231T>A
5g.13866231T>ACA359226170DNAH5c.4105A>T (p.Ile1369Phe)
c.4060A>T (p.Ile1354Phe)
n.4312A>T
c.4213A>T (p.Ile1405Phe)
c.3118A>T (p.Ile1040Phe)
c.2707A>T (p.Ile903Phe)
n.4230A>T
 dbSNP gnomAD v4
5g.13866231T>CCA359226186DNAH5c.4105A>G (p.Ile1369Val)
c.4060A>G (p.Ile1354Val)
n.4312A>G
c.4213A>G (p.Ile1405Val)
c.3118A>G (p.Ile1040Val)
c.2707A>G (p.Ile903Val)
n.4230A>G
5g.13866231T>GCA359226184DNAH5c.4105A>C (p.Ile1369Leu)
c.4060A>C (p.Ile1354Leu)
n.4312A>C
c.4213A>C (p.Ile1405Leu)
c.3118A>C (p.Ile1040Leu)
c.2707A>C (p.Ile903Leu)
n.4230A>C
5g.13866231T=CA1528476265DNAH5c.4105A= (p.Ile1369=)
c.4060A= (p.Ile1354=)
n.4312A=
c.4213A= (p.Ile1405=)
c.3118A= (p.Ile1040=)
c.2707A= (p.Ile903=)
n.4230A=
5g.13866232A=CA1528476267DNAH5c.4104T= (p.Leu1368=)
c.4059T= (p.Leu1353=)
n.4311T=
c.4212T= (p.Leu1404=)
c.3117T= (p.Leu1039=)
c.2706T= (p.Leu902=)
n.4229T=
5g.13866232A>CCA443263287DNAH5c.4104T>G (p.Leu1368=)
c.4059T>G (p.Leu1353=)
n.4311T>G
c.4212T>G (p.Leu1404=)
c.3117T>G (p.Leu1039=)
c.2706T>G (p.Leu902=)
n.4229T>G
5g.13866232A>GCA443263288DNAH5c.4104T>C (p.Leu1368=)
c.4059T>C (p.Leu1353=)
n.4311T>C
c.4212T>C (p.Leu1404=)
c.3117T>C (p.Leu1039=)
c.2706T>C (p.Leu902=)
n.4229T>C
 ClinVar
5g.13866232A>TCA3204078DNAH5c.4104T>A (p.Leu1368=)
c.4059T>A (p.Leu1353=)
n.4311T>A
c.4212T>A (p.Leu1404=)
c.3117T>A (p.Leu1039=)
c.2706T>A (p.Leu902=)
n.4229T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866233A=CA1528476269DNAH5c.4103T= (p.Leu1368=)
c.4058T= (p.Leu1353=)
n.4310T=
c.4211T= (p.Leu1404=)
c.3116T= (p.Leu1039=)
c.2705T= (p.Leu902=)
n.4228T=
5g.13866233A>CCA3204079DNAH5c.4103T>G (p.Leu1368Arg)
c.4058T>G (p.Leu1353Arg)
n.4310T>G
c.4211T>G (p.Leu1404Arg)
c.3116T>G (p.Leu1039Arg)
c.2705T>G (p.Leu902Arg)
n.4228T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866233A>GCA359226197DNAH5c.4103T>C (p.Leu1368Pro)
c.4058T>C (p.Leu1353Pro)
n.4310T>C
c.4211T>C (p.Leu1404Pro)
c.3116T>C (p.Leu1039Pro)
c.2705T>C (p.Leu902Pro)
n.4228T>C
5g.13866233A>TCA359226199DNAH5c.4103T>A (p.Leu1368His)
c.4058T>A (p.Leu1353His)
n.4310T>A
c.4211T>A (p.Leu1404His)
c.3116T>A (p.Leu1039His)
c.2705T>A (p.Leu902His)
n.4228T>A
5g.13866234G>ACA359226208DNAH5c.4102C>T (p.Leu1368Phe)
c.4057C>T (p.Leu1353Phe)
n.4309C>T
c.4210C>T (p.Leu1404Phe)
c.3115C>T (p.Leu1039Phe)
c.2704C>T (p.Leu902Phe)
n.4227C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13866234G>CCA359226205DNAH5c.4102C>G (p.Leu1368Val)
c.4057C>G (p.Leu1353Val)
n.4309C>G
c.4210C>G (p.Leu1404Val)
c.3115C>G (p.Leu1039Val)
c.2704C>G (p.Leu902Val)
n.4227C>G
5g.13866234G=CA1528476271DNAH5c.4102C= (p.Leu1368=)
c.4057C= (p.Leu1353=)
n.4309C=
c.4210C= (p.Leu1404=)
c.3115C= (p.Leu1039=)
c.2704C= (p.Leu902=)
n.4227C=
5g.13866234G>TCA359226206DNAH5c.4102C>A (p.Leu1368Ile)
c.4057C>A (p.Leu1353Ile)
n.4309C>A
c.4210C>A (p.Leu1404Ile)
c.3115C>A (p.Leu1039Ile)
c.2704C>A (p.Leu902Ile)
n.4227C>A
5g.13866235C>ACA359226212DNAH5c.4101G>T (p.Arg1367Ser)
c.4056G>T (p.Arg1352Ser)
n.4308G>T
c.4209G>T (p.Arg1403Ser)
c.3114G>T (p.Arg1038Ser)
c.2703G>T (p.Arg901Ser)
n.4226G>T
5g.13866235C=CA1528476276DNAH5c.4101G= (p.Arg1367=)
c.4056G= (p.Arg1352=)
n.4308G=
c.4209G= (p.Arg1403=)
c.3114G= (p.Arg1038=)
c.2703G= (p.Arg901=)
n.4226G=
5g.13866235C>GCA359226216DNAH5c.4101G>C (p.Arg1367Ser)
c.4056G>C (p.Arg1352Ser)
n.4308G>C
c.4209G>C (p.Arg1403Ser)
c.3114G>C (p.Arg1038Ser)
c.2703G>C (p.Arg901Ser)
n.4226G>C
5g.13866235C>TCA3204080DNAH5c.4101G>A (p.Arg1367=)
c.4056G>A (p.Arg1352=)
n.4308G>A
c.4209G>A (p.Arg1403=)
c.3114G>A (p.Arg1038=)
c.2703G>A (p.Arg901=)
n.4226G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866236C>ACA359226217DNAH5c.4100G>T (p.Arg1367Met)
c.4055G>T (p.Arg1352Met)
n.4307G>T
c.4208G>T (p.Arg1403Met)
c.3113G>T (p.Arg1038Met)
c.2702G>T (p.Arg901Met)
n.4225G>T
5g.13866236C=CA1528476281DNAH5c.4100G= (p.Arg1367=)
c.4055G= (p.Arg1352=)
n.4307G=
c.4208G= (p.Arg1403=)
c.3113G= (p.Arg1038=)
c.2702G= (p.Arg901=)
n.4225G=
5g.13866236C>GCA359226218DNAH5c.4100G>C (p.Arg1367Thr)
c.4055G>C (p.Arg1352Thr)
n.4307G>C
c.4208G>C (p.Arg1403Thr)
c.3113G>C (p.Arg1038Thr)
c.2702G>C (p.Arg901Thr)
n.4225G>C
 dbSNP gnomAD v3 gnomAD v4
5g.13866236C>TCA359226219DNAH5c.4100G>A (p.Arg1367Lys)
c.4055G>A (p.Arg1352Lys)
n.4307G>A
c.4208G>A (p.Arg1403Lys)
c.3113G>A (p.Arg1038Lys)
c.2702G>A (p.Arg901Lys)
n.4225G>A
5g.13866237T>ACA359226220DNAH5c.4099A>T (p.Arg1367Trp)
c.4054A>T (p.Arg1352Trp)
n.4306A>T
c.4207A>T (p.Arg1403Trp)
c.3112A>T (p.Arg1038Trp)
c.2701A>T (p.Arg901Trp)
n.4224A>T
5g.13866237T>CCA359226222DNAH5c.4099A>G (p.Arg1367Gly)
c.4054A>G (p.Arg1352Gly)
n.4306A>G
c.4207A>G (p.Arg1403Gly)
c.3112A>G (p.Arg1038Gly)
c.2701A>G (p.Arg901Gly)
n.4224A>G
 gnomAD v4
5g.13866237T>GCA443263289DNAH5c.4099A>C (p.Arg1367=)
c.4054A>C (p.Arg1352=)
n.4306A>C
c.4207A>C (p.Arg1403=)
c.3112A>C (p.Arg1038=)
c.2701A>C (p.Arg901=)
n.4224A>C
5g.13866238G>ACA443263290DNAH5c.4098C>T (p.Asp1366=)
c.4053C>T (p.Asp1351=)
n.4305C>T
c.4206C>T (p.Asp1402=)
c.3111C>T (p.Asp1037=)
c.2700C>T (p.Asp900=)
n.4223C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13866238G>CCA359226228DNAH5c.4098C>G (p.Asp1366Glu)
c.4053C>G (p.Asp1351Glu)
n.4305C>G
c.4206C>G (p.Asp1402Glu)
c.3111C>G (p.Asp1037Glu)
c.2700C>G (p.Asp900Glu)
n.4223C>G
 gnomAD v4
5g.13866238G=CA1528476284DNAH5c.4098C= (p.Asp1366=)
c.4053C= (p.Asp1351=)
n.4305C=
c.4206C= (p.Asp1402=)
c.3111C= (p.Asp1037=)
c.2700C= (p.Asp900=)
n.4223C=
5g.13866238G>TCA359226233DNAH5c.4098C>A (p.Asp1366Glu)
c.4053C>A (p.Asp1351Glu)
n.4305C>A
c.4206C>A (p.Asp1402Glu)
c.3111C>A (p.Asp1037Glu)
c.2700C>A (p.Asp900Glu)
n.4223C>A
5g.13866239T>ACA359226240DNAH5c.4097A>T (p.Asp1366Val)
c.4052A>T (p.Asp1351Val)
n.4304A>T
c.4205A>T (p.Asp1402Val)
c.3110A>T (p.Asp1037Val)
c.2699A>T (p.Asp900Val)
n.4222A>T
5g.13866239T>CCA359226252DNAH5c.4097A>G (p.Asp1366Gly)
c.4052A>G (p.Asp1351Gly)
n.4304A>G
c.4205A>G (p.Asp1402Gly)
c.3110A>G (p.Asp1037Gly)
c.2699A>G (p.Asp900Gly)
n.4222A>G
 gnomAD v4
5g.13866239T>GCA359226258DNAH5c.4097A>C (p.Asp1366Ala)
c.4052A>C (p.Asp1351Ala)
n.4304A>C
c.4205A>C (p.Asp1402Ala)
c.3110A>C (p.Asp1037Ala)
c.2699A>C (p.Asp900Ala)
n.4222A>C
5g.13866240C>ACA359226261DNAH5c.4096G>T (p.Asp1366Tyr)
c.4051G>T (p.Asp1351Tyr)
n.4303G>T
c.4204G>T (p.Asp1402Tyr)
c.3109G>T (p.Asp1037Tyr)
c.2698G>T (p.Asp900Tyr)
n.4221G>T
5g.13866240C=CA1528476289DNAH5c.4096G= (p.Asp1366=)
c.4051G= (p.Asp1351=)
n.4303G=
c.4204G= (p.Asp1402=)
c.3109G= (p.Asp1037=)
c.2698G= (p.Asp900=)
n.4221G=
5g.13866240C>GCA113977166DNAH5c.4096G>C (p.Asp1366His)
c.4051G>C (p.Asp1351His)
n.4303G>C
c.4204G>C (p.Asp1402His)
c.3109G>C (p.Asp1037His)
c.2698G>C (p.Asp900His)
n.4221G>C
 dbSNP
5g.13866240C>TCA359226265DNAH5c.4096G>A (p.Asp1366Asn)
c.4051G>A (p.Asp1351Asn)
n.4303G>A
c.4204G>A (p.Asp1402Asn)
c.3109G>A (p.Asp1037Asn)
c.2698G>A (p.Asp900Asn)
n.4221G>A
5g.13866241A>CCA359226271DNAH5c.4095T>G (p.Ser1365Arg)
c.4050T>G (p.Ser1350Arg)
n.4302T>G
c.4203T>G (p.Ser1401Arg)
c.3108T>G (p.Ser1036Arg)
c.2697T>G (p.Ser899Arg)
n.4220T>G
5g.13866241A>GCA443263292DNAH5c.4095T>C (p.Ser1365=)
c.4050T>C (p.Ser1350=)
n.4302T>C
c.4203T>C (p.Ser1401=)
c.3108T>C (p.Ser1036=)
c.2697T>C (p.Ser899=)
n.4220T>C
5g.13866241A>TCA359226276DNAH5c.4095T>A (p.Ser1365Arg)
c.4050T>A (p.Ser1350Arg)
n.4302T>A
c.4203T>A (p.Ser1401Arg)
c.3108T>A (p.Ser1036Arg)
c.2697T>A (p.Ser899Arg)
n.4220T>A
 gnomAD v4
5g.13866241_13866242delinsACCA1528476292DNAH5c.4094_4095delinsGT (p.Ser1365=)
c.4049_4050delinsGT (p.Ser1350=)
n.4301_4302delinsGT
c.4202_4203delinsGT (p.Ser1401=)
c.3107_3108delinsGT (p.Ser1036=)
c.2696_2697delinsGT (p.Ser899=)
n.4219_4220delinsGT
5g.13866242delCA16616739DNAH5c.4094del (p.Ser1365MetfsTer?)
c.4049del (p.Ser1350MetfsTer?)
n.4301del
c.4202del (p.Ser1401MetfsTer?)
c.3107del (p.Ser1036MetfsTer?)
c.2696del (p.Ser899MetfsTer?)
n.4219del
 ClinVar dbSNP gnomAD v4
5g.13866242C>ACA359226278DNAH5c.4094G>T (p.Ser1365Ile)
c.4049G>T (p.Ser1350Ile)
n.4301G>T
c.4202G>T (p.Ser1401Ile)
c.3107G>T (p.Ser1036Ile)
c.2696G>T (p.Ser899Ile)
n.4219G>T
5g.13866242C>GCA359226285DNAH5c.4094G>C (p.Ser1365Thr)
c.4049G>C (p.Ser1350Thr)
n.4301G>C
c.4202G>C (p.Ser1401Thr)
c.3107G>C (p.Ser1036Thr)
c.2696G>C (p.Ser899Thr)
n.4219G>C
5g.13866242C>TCA359226289DNAH5c.4094G>A (p.Ser1365Asn)
c.4049G>A (p.Ser1350Asn)
n.4301G>A
c.4202G>A (p.Ser1401Asn)
c.3107G>A (p.Ser1036Asn)
c.2696G>A (p.Ser899Asn)
n.4219G>A
 gnomAD v4
5g.13866243T>ACA359226294DNAH5c.4093A>T (p.Ser1365Cys)
c.4048A>T (p.Ser1350Cys)
n.4300A>T
c.4201A>T (p.Ser1401Cys)
c.3106A>T (p.Ser1036Cys)
c.2695A>T (p.Ser899Cys)
n.4218A>T
5g.13866243T>CCA359226295DNAH5c.4093A>G (p.Ser1365Gly)
c.4048A>G (p.Ser1350Gly)
n.4300A>G
c.4201A>G (p.Ser1401Gly)
c.3106A>G (p.Ser1036Gly)
c.2695A>G (p.Ser899Gly)
n.4218A>G
5g.13866243T>GCA359226296DNAH5c.4093A>C (p.Ser1365Arg)
c.4048A>C (p.Ser1350Arg)
n.4300A>C
c.4201A>C (p.Ser1401Arg)
c.3106A>C (p.Ser1036Arg)
c.2695A>C (p.Ser899Arg)
n.4218A>C
 gnomAD v4
5g.13866244G>ACA443263297DNAH5c.4092C>T (p.Ala1364=)
c.4047C>T (p.Ala1349=)
n.4299C>T
c.4200C>T (p.Ala1400=)
c.3105C>T (p.Ala1035=)
c.2694C>T (p.Ala898=)
n.4217C>T
5g.13866244G>CCA443263295DNAH5c.4092C>G (p.Ala1364=)
c.4047C>G (p.Ala1349=)
n.4299C>G
c.4200C>G (p.Ala1400=)
c.3105C>G (p.Ala1035=)
c.2694C>G (p.Ala898=)
n.4217C>G
5g.13866244G>TCA443263294DNAH5c.4092C>A (p.Ala1364=)
c.4047C>A (p.Ala1349=)
n.4299C>A
c.4200C>A (p.Ala1400=)
c.3105C>A (p.Ala1035=)
c.2694C>A (p.Ala898=)
n.4217C>A
5g.13866245G>ACA359226297DNAH5c.4091C>T (p.Ala1364Val)
c.4046C>T (p.Ala1349Val)
n.4298C>T
c.4199C>T (p.Ala1400Val)
c.3104C>T (p.Ala1035Val)
c.2693C>T (p.Ala898Val)
n.4216C>T
5g.13866245G>CCA359226298DNAH5c.4091C>G (p.Ala1364Gly)
c.4046C>G (p.Ala1349Gly)
n.4298C>G
c.4199C>G (p.Ala1400Gly)
c.3104C>G (p.Ala1035Gly)
c.2693C>G (p.Ala898Gly)
n.4216C>G
5g.13866245G>TCA359226299DNAH5c.4091C>A (p.Ala1364Asp)
c.4046C>A (p.Ala1349Asp)
n.4298C>A
c.4199C>A (p.Ala1400Asp)
c.3104C>A (p.Ala1035Asp)
c.2693C>A (p.Ala898Asp)
n.4216C>A
5g.13866246C>ACA359226300DNAH5c.4090G>T (p.Ala1364Ser)
c.4045G>T (p.Ala1349Ser)
n.4297G>T
c.4198G>T (p.Ala1400Ser)
c.3103G>T (p.Ala1035Ser)
c.2692G>T (p.Ala898Ser)
n.4215G>T
 gnomAD v4 COSMIC
5g.13866246C>GCA359226301DNAH5c.4090G>C (p.Ala1364Pro)
c.4045G>C (p.Ala1349Pro)
n.4297G>C
c.4198G>C (p.Ala1400Pro)
c.3103G>C (p.Ala1035Pro)
c.2692G>C (p.Ala898Pro)
n.4215G>C
5g.13866246C>TCA359226305DNAH5c.4090G>A (p.Ala1364Thr)
c.4045G>A (p.Ala1349Thr)
n.4297G>A
c.4198G>A (p.Ala1400Thr)
c.3103G>A (p.Ala1035Thr)
c.2692G>A (p.Ala898Thr)
n.4215G>A
5g.13866247T>ACA359226307DNAH5c.4089A>T (p.Glu1363Asp)
c.4044A>T (p.Glu1348Asp)
n.4296A>T
c.4197A>T (p.Glu1399Asp)
c.3102A>T (p.Glu1034Asp)
c.2691A>T (p.Glu897Asp)
n.4214A>T
5g.13866247T>CCA443263299DNAH5c.4089A>G (p.Glu1363=)
c.4044A>G (p.Glu1348=)
n.4296A>G
c.4197A>G (p.Glu1399=)
c.3102A>G (p.Glu1034=)
c.2691A>G (p.Glu897=)
n.4214A>G
5g.13866247T>GCA359226317DNAH5c.4089A>C (p.Glu1363Asp)
c.4044A>C (p.Glu1348Asp)
n.4296A>C
c.4197A>C (p.Glu1399Asp)
c.3102A>C (p.Glu1034Asp)
c.2691A>C (p.Glu897Asp)
n.4214A>C
5g.13866248T>ACA359226321DNAH5c.4088A>T (p.Glu1363Val)
c.4043A>T (p.Glu1348Val)
n.4295A>T
c.4196A>T (p.Glu1399Val)
c.3101A>T (p.Glu1034Val)
c.2690A>T (p.Glu897Val)
n.4213A>T
5g.13866248T>CCA359226322DNAH5c.4088A>G (p.Glu1363Gly)
c.4043A>G (p.Glu1348Gly)
n.4295A>G
c.4196A>G (p.Glu1399Gly)
c.3101A>G (p.Glu1034Gly)
c.2690A>G (p.Glu897Gly)
n.4213A>G
 COSMIC
5g.13866248T>GCA359226324DNAH5c.4088A>C (p.Glu1363Ala)
c.4043A>C (p.Glu1348Ala)
n.4295A>C
c.4196A>C (p.Glu1399Ala)
c.3101A>C (p.Glu1034Ala)
c.2690A>C (p.Glu897Ala)
n.4213A>C
5g.13866249C>ACA359226326DNAH5c.4087G>T (p.Glu1363Ter)
c.4042G>T (p.Glu1348Ter)
n.4294G>T
c.4195G>T (p.Glu1399Ter)
c.3100G>T (p.Glu1034Ter)
c.2689G>T (p.Glu897Ter)
n.4212G>T
 ClinVar
5g.13866249C=CA1528476296DNAH5c.4087G= (p.Glu1363=)
c.4042G= (p.Glu1348=)
n.4294G=
c.4195G= (p.Glu1399=)
c.3100G= (p.Glu1034=)
c.2689G= (p.Glu897=)
n.4212G=
5g.13866249C>GCA359226331DNAH5c.4087G>C (p.Glu1363Gln)
c.4042G>C (p.Glu1348Gln)
n.4294G>C
c.4195G>C (p.Glu1399Gln)
c.3100G>C (p.Glu1034Gln)
c.2689G>C (p.Glu897Gln)
n.4212G>C
5g.13866249C>TCA3204081DNAH5c.4087G>A (p.Glu1363Lys)
c.4042G>A (p.Glu1348Lys)
n.4294G>A
c.4195G>A (p.Glu1399Lys)
c.3100G>A (p.Glu1034Lys)
c.2689G>A (p.Glu897Lys)
n.4212G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866250C>ACA359226362DNAH5c.4086G>T (p.Gln1362His)
c.4041G>T (p.Gln1347His)
n.4293G>T
c.4194G>T (p.Gln1398His)
c.3099G>T (p.Gln1033His)
c.2688G>T (p.Gln896His)
n.4211G>T
5g.13866250C>GCA359226366DNAH5c.4086G>C (p.Gln1362His)
c.4041G>C (p.Gln1347His)
n.4293G>C
c.4194G>C (p.Gln1398His)
c.3099G>C (p.Gln1033His)
c.2688G>C (p.Gln896His)
n.4211G>C
 gnomAD v4
5g.13866250C>TCA443263301DNAH5c.4086G>A (p.Gln1362=)
c.4041G>A (p.Gln1347=)
n.4293G>A
c.4194G>A (p.Gln1398=)
c.3099G>A (p.Gln1033=)
c.2688G>A (p.Gln896=)
n.4211G>A
 COSMIC
5g.13866251T>ACA359226368DNAH5c.4085A>T (p.Gln1362Leu)
c.4040A>T (p.Gln1347Leu)
n.4292A>T
c.4193A>T (p.Gln1398Leu)
c.3098A>T (p.Gln1033Leu)
c.2687A>T (p.Gln896Leu)
n.4210A>T
5g.13866251T>CCA359226369DNAH5c.4085A>G (p.Gln1362Arg)
c.4040A>G (p.Gln1347Arg)
n.4292A>G
c.4193A>G (p.Gln1398Arg)
c.3098A>G (p.Gln1033Arg)
c.2687A>G (p.Gln896Arg)
n.4210A>G
5g.13866251T>GCA359226370DNAH5c.4085A>C (p.Gln1362Pro)
c.4040A>C (p.Gln1347Pro)
n.4292A>C
c.4193A>C (p.Gln1398Pro)
c.3098A>C (p.Gln1033Pro)
c.2687A>C (p.Gln896Pro)
n.4210A>C
 gnomAD v4
5g.13866252G>ACA359226371DNAH5c.4084C>T (p.Gln1362Ter)
c.4039C>T (p.Gln1347Ter)
n.4291C>T
c.4192C>T (p.Gln1398Ter)
c.3097C>T (p.Gln1033Ter)
c.2686C>T (p.Gln896Ter)
n.4209C>T
 ClinVar dbSNP gnomAD v4
5g.13866252G>CCA359226380DNAH5c.4084C>G (p.Gln1362Glu)
c.4039C>G (p.Gln1347Glu)
n.4291C>G
c.4192C>G (p.Gln1398Glu)
c.3097C>G (p.Gln1033Glu)
c.2686C>G (p.Gln896Glu)
n.4209C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13866252G=CA1528476298DNAH5c.4084C= (p.Gln1362=)
c.4039C= (p.Gln1347=)
n.4291C=
c.4192C= (p.Gln1398=)
c.3097C= (p.Gln1033=)
c.2686C= (p.Gln896=)
n.4209C=
5g.13866252G>TCA359226374DNAH5c.4084C>A (p.Gln1362Lys)
c.4039C>A (p.Gln1347Lys)
n.4291C>A
c.4192C>A (p.Gln1398Lys)
c.3097C>A (p.Gln1033Lys)
c.2686C>A (p.Gln896Lys)
n.4209C>A
5g.13866255dupCA2573138483DNAH5c.4084dup (p.Gln1362ProfsTer5)
c.4039dup (p.Gln1347ProfsTer5)
n.4291dup
c.4192dup (p.Gln1398ProfsTer5)
c.3097dup (p.Gln1033ProfsTer5)
c.2686dup (p.Gln896ProfsTer5)
n.4209dup
 ClinVar dbSNP
5g.13866253G>ACA3204082DNAH5c.4083C>T (p.Pro1361=)
c.4038C>T (p.Pro1346=)
n.4290C>T
c.4191C>T (p.Pro1397=)
c.3096C>T (p.Pro1032=)
c.2685C>T (p.Pro895=)
n.4208C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866253G>CCA443263303DNAH5c.4083C>G (p.Pro1361=)
c.4038C>G (p.Pro1346=)
n.4290C>G
c.4191C>G (p.Pro1397=)
c.3096C>G (p.Pro1032=)
c.2685C>G (p.Pro895=)
n.4208C>G
5g.13866253G=CA1528476301DNAH5c.4083C= (p.Pro1361=)
c.4038C= (p.Pro1346=)
n.4290C=
c.4191C= (p.Pro1397=)
c.3096C= (p.Pro1032=)
c.2685C= (p.Pro895=)
n.4208C=
5g.13866253G>TCA443263304DNAH5c.4083C>A (p.Pro1361=)
c.4038C>A (p.Pro1346=)
n.4290C>A
c.4191C>A (p.Pro1397=)
c.3096C>A (p.Pro1032=)
c.2685C>A (p.Pro895=)
n.4208C>A
5g.13866254G>ACA359226406DNAH5c.4082C>T (p.Pro1361Leu)
c.4037C>T (p.Pro1346Leu)
n.4289C>T
c.4190C>T (p.Pro1397Leu)
c.3095C>T (p.Pro1032Leu)
c.2684C>T (p.Pro895Leu)
n.4207C>T
5g.13866254G>CCA3204083DNAH5c.4082C>G (p.Pro1361Arg)
c.4037C>G (p.Pro1346Arg)
n.4289C>G
c.4190C>G (p.Pro1397Arg)
c.3095C>G (p.Pro1032Arg)
c.2684C>G (p.Pro895Arg)
n.4207C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866254G=CA1528476304DNAH5c.4082C= (p.Pro1361=)
c.4037C= (p.Pro1346=)
n.4289C=
c.4190C= (p.Pro1397=)
c.3095C= (p.Pro1032=)
c.2684C= (p.Pro895=)
n.4207C=
5g.13866254G>TCA359226407DNAH5c.4082C>A (p.Pro1361His)
c.4037C>A (p.Pro1346His)
n.4289C>A
c.4190C>A (p.Pro1397His)
c.3095C>A (p.Pro1032His)
c.2684C>A (p.Pro895His)
n.4207C>A
5g.13866255G>ACA359226409DNAH5c.4081C>T (p.Pro1361Ser)
c.4036C>T (p.Pro1346Ser)
n.4288C>T
c.4189C>T (p.Pro1397Ser)
c.3094C>T (p.Pro1032Ser)
c.2683C>T (p.Pro895Ser)
n.4206C>T
5g.13866255G>CCA359226413DNAH5c.4081C>G (p.Pro1361Ala)
c.4036C>G (p.Pro1346Ala)
n.4288C>G
c.4189C>G (p.Pro1397Ala)
c.3094C>G (p.Pro1032Ala)
c.2683C>G (p.Pro895Ala)
n.4206C>G
5g.13866255G>TCA359226410DNAH5c.4081C>A (p.Pro1361Thr)
c.4036C>A (p.Pro1346Thr)
n.4288C>A
c.4189C>A (p.Pro1397Thr)
c.3094C>A (p.Pro1032Thr)
c.2683C>A (p.Pro895Thr)
n.4206C>A
 gnomAD v4
5g.13866256C>ACA359226422DNAH5c.4080G>T (p.Lys1360Asn)
c.4035G>T (p.Lys1345Asn)
n.4287G>T
c.4188G>T (p.Lys1396Asn)
c.3093G>T (p.Lys1031Asn)
c.2682G>T (p.Lys894Asn)
n.4205G>T
5g.13866256C=CA1528476306DNAH5c.4080G= (p.Lys1360=)
c.4035G= (p.Lys1345=)
n.4287G=
c.4188G= (p.Lys1396=)
c.3093G= (p.Lys1031=)
c.2682G= (p.Lys894=)
n.4205G=
5g.13866256C>GCA359226443DNAH5c.4080G>C (p.Lys1360Asn)
c.4035G>C (p.Lys1345Asn)
n.4287G>C
c.4188G>C (p.Lys1396Asn)
c.3093G>C (p.Lys1031Asn)
c.2682G>C (p.Lys894Asn)
n.4205G>C
 dbSNP
5g.13866256C>TCA113977173DNAH5c.4080G>A (p.Lys1360=)
c.4035G>A (p.Lys1345=)
n.4287G>A
c.4188G>A (p.Lys1396=)
c.3093G>A (p.Lys1031=)
c.2682G>A (p.Lys894=)
n.4205G>A
 dbSNP gnomAD v4
5g.13866257T>ACA359226476DNAH5c.4079A>T (p.Lys1360Met)
c.4034A>T (p.Lys1345Met)
n.4286A>T
c.4187A>T (p.Lys1396Met)
c.3092A>T (p.Lys1031Met)
c.2681A>T (p.Lys894Met)
n.4204A>T
 dbSNP gnomAD v4
5g.13866257T>CCA359226494DNAH5c.4079A>G (p.Lys1360Arg)
c.4034A>G (p.Lys1345Arg)
n.4286A>G
c.4187A>G (p.Lys1396Arg)
c.3092A>G (p.Lys1031Arg)
c.2681A>G (p.Lys894Arg)
n.4204A>G
5g.13866257T>GCA359226498DNAH5c.4079A>C (p.Lys1360Thr)
c.4034A>C (p.Lys1345Thr)
n.4286A>C
c.4187A>C (p.Lys1396Thr)
c.3092A>C (p.Lys1031Thr)
c.2681A>C (p.Lys894Thr)
n.4204A>C
5g.13866257T=CA1528476309DNAH5c.4079A= (p.Lys1360=)
c.4034A= (p.Lys1345=)
n.4286A=
c.4187A= (p.Lys1396=)
c.3092A= (p.Lys1031=)
c.2681A= (p.Lys894=)
n.4204A=
5g.13866258T>ACA359226505DNAH5c.4078A>T (p.Lys1360Ter)
c.4033A>T (p.Lys1345Ter)
n.4285A>T
c.4186A>T (p.Lys1396Ter)
c.3091A>T (p.Lys1031Ter)
c.2680A>T (p.Lys894Ter)
n.4203A>T
 ClinVar dbSNP
5g.13866258T>CCA359226532DNAH5c.4078A>G (p.Lys1360Glu)
c.4033A>G (p.Lys1345Glu)
n.4285A>G
c.4186A>G (p.Lys1396Glu)
c.3091A>G (p.Lys1031Glu)
c.2680A>G (p.Lys894Glu)
n.4203A>G
5g.13866258T>GCA359226534DNAH5c.4078A>C (p.Lys1360Gln)
c.4033A>C (p.Lys1345Gln)
n.4285A>C
c.4186A>C (p.Lys1396Gln)
c.3091A>C (p.Lys1031Gln)
c.2680A>C (p.Lys894Gln)
n.4203A>C
5g.13866258T=CA1528476311DNAH5c.4078A= (p.Lys1360=)
c.4033A= (p.Lys1345=)
n.4285A=
c.4186A= (p.Lys1396=)
c.3091A= (p.Lys1031=)
c.2680A= (p.Lys894=)
n.4203A=
5g.13866259C>ACA3204084DNAH5c.4077G>T (p.Leu1359Phe)
c.4032G>T (p.Leu1344Phe)
n.4284G>T
c.4185G>T (p.Leu1395Phe)
c.3090G>T (p.Leu1030Phe)
c.2679G>T (p.Leu893Phe)
n.4202G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866259C=CA1528476313DNAH5c.4077G= (p.Leu1359=)
c.4032G= (p.Leu1344=)
n.4284G=
c.4185G= (p.Leu1395=)
c.3090G= (p.Leu1030=)
c.2679G= (p.Leu893=)
n.4202G=
5g.13866259C>GCA359226543DNAH5c.4077G>C (p.Leu1359Phe)
c.4032G>C (p.Leu1344Phe)
n.4284G>C
c.4185G>C (p.Leu1395Phe)
c.3090G>C (p.Leu1030Phe)
c.2679G>C (p.Leu893Phe)
n.4202G>C
5g.13866259C>TCA443263311DNAH5c.4077G>A (p.Leu1359=)
c.4032G>A (p.Leu1344=)
n.4284G>A
c.4185G>A (p.Leu1395=)
c.3090G>A (p.Leu1030=)
c.2679G>A (p.Leu893=)
n.4202G>A
5g.13866260A=CA1528476316DNAH5c.4076T= (p.Leu1359=)
c.4031T= (p.Leu1344=)
n.4283T=
c.4184T= (p.Leu1395=)
c.3089T= (p.Leu1030=)
c.2678T= (p.Leu893=)
n.4201T=
5g.13866260A>CCA359226567DNAH5c.4076T>G (p.Leu1359Trp)
c.4031T>G (p.Leu1344Trp)
n.4283T>G
c.4184T>G (p.Leu1395Trp)
c.3089T>G (p.Leu1030Trp)
c.2678T>G (p.Leu893Trp)
n.4201T>G
 dbSNP
5g.13866260A>GCA359226555DNAH5c.4076T>C (p.Leu1359Ser)
c.4031T>C (p.Leu1344Ser)
n.4283T>C
c.4184T>C (p.Leu1395Ser)
c.3089T>C (p.Leu1030Ser)
c.2678T>C (p.Leu893Ser)
n.4201T>C
5g.13866260A>TCA359226552DNAH5c.4076T>A (p.Leu1359Ter)
c.4031T>A (p.Leu1344Ter)
n.4283T>A
c.4184T>A (p.Leu1395Ter)
c.3089T>A (p.Leu1030Ter)
c.2678T>A (p.Leu893Ter)
n.4201T>A
5g.13866260_13866261insTCA443263313DNAH5c.4075_4076insA (p.Leu1359TyrfsTer8)
c.4030_4031insA (p.Leu1344TyrfsTer8)
n.4282_4283insA
c.4183_4184insA (p.Leu1395TyrfsTer8)
c.3088_3089insA (p.Leu1030TyrfsTer8)
c.2677_2678insA (p.Leu893TyrfsTer8)
n.4200_4201insA
5g.13866261A>CCA359226572DNAH5c.4075T>G (p.Leu1359Val)
c.4030T>G (p.Leu1344Val)
n.4282T>G
c.4183T>G (p.Leu1395Val)
c.3088T>G (p.Leu1030Val)
c.2677T>G (p.Leu893Val)
n.4200T>G
5g.13866261A>GCA443263312DNAH5c.4075T>C (p.Leu1359=)
c.4030T>C (p.Leu1344=)
n.4282T>C
c.4183T>C (p.Leu1395=)
c.3088T>C (p.Leu1030=)
c.2677T>C (p.Leu893=)
n.4200T>C
 ClinVar gnomAD v4
5g.13866261A>TCA359226577DNAH5c.4075T>A (p.Leu1359Met)
c.4030T>A (p.Leu1344Met)
n.4282T>A
c.4183T>A (p.Leu1395Met)
c.3088T>A (p.Leu1030Met)
c.2677T>A (p.Leu893Met)
n.4200T>A
5g.13866262G>ACA443263315DNAH5c.4074C>T (p.Gly1358=)
c.4029C>T (p.Gly1343=)
n.4281C>T
c.4182C>T (p.Gly1394=)
c.3087C>T (p.Gly1029=)
c.2676C>T (p.Gly892=)
n.4199C>T
5g.13866262G>CCA443263316DNAH5c.4074C>G (p.Gly1358=)
c.4029C>G (p.Gly1343=)
n.4281C>G
c.4182C>G (p.Gly1394=)
c.3087C>G (p.Gly1029=)
c.2676C>G (p.Gly892=)
n.4199C>G
5g.13866262G>TCA443263317DNAH5c.4074C>A (p.Gly1358=)
c.4029C>A (p.Gly1343=)
n.4281C>A
c.4182C>A (p.Gly1394=)
c.3087C>A (p.Gly1029=)
c.2676C>A (p.Gly892=)
n.4199C>A
5g.13866263C>ACA3204085DNAH5c.4073G>T (p.Gly1358Val)
c.4028G>T (p.Gly1343Val)
n.4280G>T
c.4181G>T (p.Gly1394Val)
c.3086G>T (p.Gly1029Val)
c.2675G>T (p.Gly892Val)
n.4198G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866263C=CA1528476318DNAH5c.4073G= (p.Gly1358=)
c.4028G= (p.Gly1343=)
n.4280G=
c.4181G= (p.Gly1394=)
c.3086G= (p.Gly1029=)
c.2675G= (p.Gly892=)
n.4198G=
5g.13866263C>GCA359226589DNAH5c.4073G>C (p.Gly1358Ala)
c.4028G>C (p.Gly1343Ala)
n.4280G>C
c.4181G>C (p.Gly1394Ala)
c.3086G>C (p.Gly1029Ala)
c.2675G>C (p.Gly892Ala)
n.4198G>C
 dbSNP
5g.13866263C>TCA359226593DNAH5c.4073G>A (p.Gly1358Asp)
c.4028G>A (p.Gly1343Asp)
n.4280G>A
c.4181G>A (p.Gly1394Asp)
c.3086G>A (p.Gly1029Asp)
c.2675G>A (p.Gly892Asp)
n.4198G>A
 dbSNP gnomAD v2
5g.13866264C>ACA359226607DNAH5c.4072G>T (p.Gly1358Cys)
c.4027G>T (p.Gly1343Cys)
n.4279G>T
c.4180G>T (p.Gly1394Cys)
c.3085G>T (p.Gly1029Cys)
c.2674G>T (p.Gly892Cys)
n.4197G>T
5g.13866264C=CA1528476323DNAH5c.4072G= (p.Gly1358=)
c.4027G= (p.Gly1343=)
n.4279G=
c.4180G= (p.Gly1394=)
c.3085G= (p.Gly1029=)
c.2674G= (p.Gly892=)
n.4197G=
5g.13866264C>GCA359226618DNAH5c.4072G>C (p.Gly1358Arg)
c.4027G>C (p.Gly1343Arg)
n.4279G>C
c.4180G>C (p.Gly1394Arg)
c.3085G>C (p.Gly1029Arg)
c.2674G>C (p.Gly892Arg)
n.4197G>C
5g.13866264C>TCA3204086DNAH5c.4072G>A (p.Gly1358Ser)
c.4027G>A (p.Gly1343Ser)
n.4279G>A
c.4180G>A (p.Gly1394Ser)
c.3085G>A (p.Gly1029Ser)
c.2674G>A (p.Gly892Ser)
n.4197G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866265G>ACA3204087DNAH5c.4071C>T (p.Ser1357=)
c.4026C>T (p.Ser1342=)
n.4278C>T
c.4179C>T (p.Ser1393=)
c.3084C>T (p.Ser1028=)
c.2673C>T (p.Ser891=)
n.4196C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866265G>CCA359226656DNAH5c.4071C>G (p.Ser1357Arg)
c.4026C>G (p.Ser1342Arg)
n.4278C>G
c.4179C>G (p.Ser1393Arg)
c.3084C>G (p.Ser1028Arg)
c.2673C>G (p.Ser891Arg)
n.4196C>G
5g.13866265G=CA1528476327DNAH5c.4071C= (p.Ser1357=)
c.4026C= (p.Ser1342=)
n.4278C=
c.4179C= (p.Ser1393=)
c.3084C= (p.Ser1028=)
c.2673C= (p.Ser891=)
n.4196C=
5g.13866265G>TCA359226658DNAH5c.4071C>A (p.Ser1357Arg)
c.4026C>A (p.Ser1342Arg)
n.4278C>A
c.4179C>A (p.Ser1393Arg)
c.3084C>A (p.Ser1028Arg)
c.2673C>A (p.Ser891Arg)
n.4196C>A
 gnomAD v4
5g.13866266C>ACA359226661DNAH5c.4070G>T (p.Ser1357Ile)
c.4025G>T (p.Ser1342Ile)
n.4277G>T
c.4178G>T (p.Ser1393Ile)
c.3083G>T (p.Ser1028Ile)
c.2672G>T (p.Ser891Ile)
n.4195G>T
5g.13866266C=CA1528476330DNAH5c.4070G= (p.Ser1357=)
c.4025G= (p.Ser1342=)
n.4277G=
c.4178G= (p.Ser1393=)
c.3083G= (p.Ser1028=)
c.2672G= (p.Ser891=)
n.4195G=
5g.13866266C>GCA359226659DNAH5c.4070G>C (p.Ser1357Thr)
c.4025G>C (p.Ser1342Thr)
n.4277G>C
c.4178G>C (p.Ser1393Thr)
c.3083G>C (p.Ser1028Thr)
c.2672G>C (p.Ser891Thr)
n.4195G>C
5g.13866266C>TCA3204088DNAH5c.4070G>A (p.Ser1357Asn)
c.4025G>A (p.Ser1342Asn)
n.4277G>A
c.4178G>A (p.Ser1393Asn)
c.3083G>A (p.Ser1028Asn)
c.2672G>A (p.Ser891Asn)
n.4195G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866267T>ACA359226665DNAH5c.4069A>T (p.Ser1357Cys)
c.4024A>T (p.Ser1342Cys)
n.4276A>T
c.4177A>T (p.Ser1393Cys)
c.3082A>T (p.Ser1028Cys)
c.2671A>T (p.Ser891Cys)
n.4194A>T
5g.13866267T>CCA359226667DNAH5c.4069A>G (p.Ser1357Gly)
c.4024A>G (p.Ser1342Gly)
n.4276A>G
c.4177A>G (p.Ser1393Gly)
c.3082A>G (p.Ser1028Gly)
c.2671A>G (p.Ser891Gly)
n.4194A>G
5g.13866267T>GCA359226670DNAH5c.4069A>C (p.Ser1357Arg)
c.4024A>C (p.Ser1342Arg)
n.4276A>C
c.4177A>C (p.Ser1393Arg)
c.3082A>C (p.Ser1028Arg)
c.2671A>C (p.Ser891Arg)
n.4194A>C
5g.13866268A>CCA443263324DNAH5c.4068T>G (p.Ala1356=)
c.4023T>G (p.Ala1341=)
n.4275T>G
c.4176T>G (p.Ala1392=)
c.3081T>G (p.Ala1027=)
c.2670T>G (p.Ala890=)
n.4193T>G
5g.13866268A>GCA443263327DNAH5c.4068T>C (p.Ala1356=)
c.4023T>C (p.Ala1341=)
n.4275T>C
c.4176T>C (p.Ala1392=)
c.3081T>C (p.Ala1027=)
c.2670T>C (p.Ala890=)
n.4193T>C
5g.13866268A>TCA443263329DNAH5c.4068T>A (p.Ala1356=)
c.4023T>A (p.Ala1341=)
n.4275T>A
c.4176T>A (p.Ala1392=)
c.3081T>A (p.Ala1027=)
c.2670T>A (p.Ala890=)
n.4193T>A
5g.13866269G>ACA359226699DNAH5c.4067C>T (p.Ala1356Val)
c.4022C>T (p.Ala1341Val)
n.4274C>T
c.4175C>T (p.Ala1392Val)
c.3080C>T (p.Ala1027Val)
c.2669C>T (p.Ala890Val)
n.4192C>T
5g.13866269G>CCA359226702DNAH5c.4067C>G (p.Ala1356Gly)
c.4022C>G (p.Ala1341Gly)
n.4274C>G
c.4175C>G (p.Ala1392Gly)
c.3080C>G (p.Ala1027Gly)
c.2669C>G (p.Ala890Gly)
n.4192C>G
 dbSNP gnomAD v2 gnomAD v4
5g.13866269G=CA1528476332DNAH5c.4067C= (p.Ala1356=)
c.4022C= (p.Ala1341=)
n.4274C=
c.4175C= (p.Ala1392=)
c.3080C= (p.Ala1027=)
c.2669C= (p.Ala890=)
n.4192C=
5g.13866269G>TCA359226707DNAH5c.4067C>A (p.Ala1356Asp)
c.4022C>A (p.Ala1341Asp)
n.4274C>A
c.4175C>A (p.Ala1392Asp)
c.3080C>A (p.Ala1027Asp)
c.2669C>A (p.Ala890Asp)
n.4192C>A
5g.13866270C>ACA359226711DNAH5c.4066G>T (p.Ala1356Ser)
c.4021G>T (p.Ala1341Ser)
n.4273G>T
c.4174G>T (p.Ala1392Ser)
c.3079G>T (p.Ala1027Ser)
c.2668G>T (p.Ala890Ser)
n.4191G>T
5g.13866270C=CA1528476333DNAH5c.4066G= (p.Ala1356=)
c.4021G= (p.Ala1341=)
n.4273G=
c.4174G= (p.Ala1392=)
c.3079G= (p.Ala1027=)
c.2668G= (p.Ala890=)
n.4191G=
5g.13866270C>GCA359226716DNAH5c.4066G>C (p.Ala1356Pro)
c.4021G>C (p.Ala1341Pro)
n.4273G>C
c.4174G>C (p.Ala1392Pro)
c.3079G>C (p.Ala1027Pro)
c.2668G>C (p.Ala890Pro)
n.4191G>C
5g.13866270C>TCA359226719DNAH5c.4066G>A (p.Ala1356Thr)
c.4021G>A (p.Ala1341Thr)
n.4273G>A
c.4174G>A (p.Ala1392Thr)
c.3079G>A (p.Ala1027Thr)
c.2668G>A (p.Ala890Thr)
n.4191G>A
 dbSNP gnomAD v2 gnomAD v4
5g.13866271C>ACA359226721DNAH5c.4065G>T (p.Met1355Ile)
c.4020G>T (p.Met1340Ile)
n.4272G>T
c.4173G>T (p.Met1391Ile)
c.3078G>T (p.Met1026Ile)
c.2667G>T (p.Met889Ile)
n.4190G>T
5g.13866271C=CA1528476334DNAH5c.4065G= (p.Met1355=)
c.4020G= (p.Met1340=)
n.4272G=
c.4173G= (p.Met1391=)
c.3078G= (p.Met1026=)
c.2667G= (p.Met889=)
n.4190G=
5g.13866271C>GCA359226727DNAH5c.4065G>C (p.Met1355Ile)
c.4020G>C (p.Met1340Ile)
n.4272G>C
c.4173G>C (p.Met1391Ile)
c.3078G>C (p.Met1026Ile)
c.2667G>C (p.Met889Ile)
n.4190G>C
5g.13866271C>TCA3204089DNAH5c.4065G>A (p.Met1355Ile)
c.4020G>A (p.Met1340Ile)
n.4272G>A
c.4173G>A (p.Met1391Ile)
c.3078G>A (p.Met1026Ile)
c.2667G>A (p.Met889Ile)
n.4190G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866272delCA2673276082DNAH5c.4064del (p.Met1355ArgfsTer5)
c.4019del (p.Met1340ArgfsTer5)
n.4271del
c.4172del (p.Met1391ArgfsTer5)
c.3077del (p.Met1026ArgfsTer5)
c.2666del (p.Met889ArgfsTer5)
n.4189del
 gnomAD v4
5g.13866272A=CA1528476336DNAH5c.4064T= (p.Met1355=)
c.4019T= (p.Met1340=)
n.4271T=
c.4172T= (p.Met1391=)
c.3077T= (p.Met1026=)
c.2666T= (p.Met889=)
n.4189T=
5g.13866272A>CCA359226755DNAH5c.4064T>G (p.Met1355Arg)
c.4019T>G (p.Met1340Arg)
n.4271T>G
c.4172T>G (p.Met1391Arg)
c.3077T>G (p.Met1026Arg)
c.2666T>G (p.Met889Arg)
n.4189T>G
 dbSNP
5g.13866272A>GCA359226743DNAH5c.4064T>C (p.Met1355Thr)
c.4019T>C (p.Met1340Thr)
n.4271T>C
c.4172T>C (p.Met1391Thr)
c.3077T>C (p.Met1026Thr)
c.2666T>C (p.Met889Thr)
n.4189T>C
5g.13866272A>TCA359226749DNAH5c.4064T>A (p.Met1355Lys)
c.4019T>A (p.Met1340Lys)
n.4271T>A
c.4172T>A (p.Met1391Lys)
c.3077T>A (p.Met1026Lys)
c.2666T>A (p.Met889Lys)
n.4189T>A
5g.13866273T>ACA359226764DNAH5c.4063A>T (p.Met1355Leu)
c.4018A>T (p.Met1340Leu)
n.4270A>T
c.4171A>T (p.Met1391Leu)
c.3076A>T (p.Met1026Leu)
c.2665A>T (p.Met889Leu)
n.4188A>T
5g.13866273T>CCA359226778DNAH5c.4063A>G (p.Met1355Val)
c.4018A>G (p.Met1340Val)
n.4270A>G
c.4171A>G (p.Met1391Val)
c.3076A>G (p.Met1026Val)
c.2665A>G (p.Met889Val)
n.4188A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13866273T>GCA359226784DNAH5c.4063A>C (p.Met1355Leu)
c.4018A>C (p.Met1340Leu)
n.4270A>C
c.4171A>C (p.Met1391Leu)
c.3076A>C (p.Met1026Leu)
c.2665A>C (p.Met889Leu)
n.4188A>C
5g.13866273T=CA1528476338DNAH5c.4063A= (p.Met1355=)
c.4018A= (p.Met1340=)
n.4270A=
c.4171A= (p.Met1391=)
c.3076A= (p.Met1026=)
c.2665A= (p.Met889=)
n.4188A=
5g.13866274T>ACA443263334DNAH5c.4062A>T (p.Pro1354=)
c.4017A>T (p.Pro1339=)
n.4269A>T
c.4170A>T (p.Pro1390=)
c.3075A>T (p.Pro1025=)
c.2664A>T (p.Pro888=)
n.4187A>T
5g.13866274T>CCA443263335DNAH5c.4062A>G (p.Pro1354=)
c.4017A>G (p.Pro1339=)
n.4269A>G
c.4170A>G (p.Pro1390=)
c.3075A>G (p.Pro1025=)
c.2664A>G (p.Pro888=)
n.4187A>G
5g.13866274T>GCA443263336DNAH5c.4062A>C (p.Pro1354=)
c.4017A>C (p.Pro1339=)
n.4269A>C
c.4170A>C (p.Pro1390=)
c.3075A>C (p.Pro1025=)
c.2664A>C (p.Pro888=)
n.4187A>C
5g.13866275G>ACA359226792DNAH5c.4061C>T (p.Pro1354Leu)
c.4016C>T (p.Pro1339Leu)
n.4268C>T
c.4169C>T (p.Pro1390Leu)
c.3074C>T (p.Pro1025Leu)
c.2663C>T (p.Pro888Leu)
n.4186C>T
5g.13866275G>CCA359226796DNAH5c.4061C>G (p.Pro1354Arg)
c.4016C>G (p.Pro1339Arg)
n.4268C>G
c.4169C>G (p.Pro1390Arg)
c.3074C>G (p.Pro1025Arg)
c.2663C>G (p.Pro888Arg)
n.4186C>G
5g.13866275G>TCA359226820DNAH5c.4061C>A (p.Pro1354Gln)
c.4016C>A (p.Pro1339Gln)
n.4268C>A
c.4169C>A (p.Pro1390Gln)
c.3074C>A (p.Pro1025Gln)
c.2663C>A (p.Pro888Gln)
n.4186C>A
5g.13866276G>ACA359226827DNAH5c.4060C>T (p.Pro1354Ser)
c.4015C>T (p.Pro1339Ser)
n.4267C>T
c.4168C>T (p.Pro1390Ser)
c.3073C>T (p.Pro1025Ser)
c.2662C>T (p.Pro888Ser)
n.4185C>T
 gnomAD v4
5g.13866276G>CCA3204090DNAH5c.4060C>G (p.Pro1354Ala)
c.4015C>G (p.Pro1339Ala)
n.4267C>G
c.4168C>G (p.Pro1390Ala)
c.3073C>G (p.Pro1025Ala)
c.2662C>G (p.Pro888Ala)
n.4185C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866276G=CA1528476340DNAH5c.4060C= (p.Pro1354=)
c.4015C= (p.Pro1339=)
n.4267C=
c.4168C= (p.Pro1390=)
c.3073C= (p.Pro1025=)
c.2662C= (p.Pro888=)
n.4185C=
5g.13866276G>TCA359226847DNAH5c.4060C>A (p.Pro1354Thr)
c.4015C>A (p.Pro1339Thr)
n.4267C>A
c.4168C>A (p.Pro1390Thr)
c.3073C>A (p.Pro1025Thr)
c.2662C>A (p.Pro888Thr)
n.4185C>A
 gnomAD v4
5g.13866277A>CCA443263342DNAH5c.4059T>G (p.Gly1353=)
c.4014T>G (p.Gly1338=)
n.4266T>G
c.4167T>G (p.Gly1389=)
c.3072T>G (p.Gly1024=)
c.2661T>G (p.Gly887=)
n.4184T>G
5g.13866277A>GCA443263343DNAH5c.4059T>C (p.Gly1353=)
c.4014T>C (p.Gly1338=)
n.4266T>C
c.4167T>C (p.Gly1389=)
c.3072T>C (p.Gly1024=)
c.2661T>C (p.Gly887=)
n.4184T>C
5g.13866277A>TCA443263344DNAH5c.4059T>A (p.Gly1353=)
c.4014T>A (p.Gly1338=)
n.4266T>A
c.4167T>A (p.Gly1389=)
c.3072T>A (p.Gly1024=)
c.2661T>A (p.Gly887=)
n.4184T>A
5g.13866278C>ACA359226857DNAH5c.4058G>T (p.Gly1353Val)
c.4013G>T (p.Gly1338Val)
n.4265G>T
c.4166G>T (p.Gly1389Val)
c.3071G>T (p.Gly1024Val)
c.2660G>T (p.Gly887Val)
n.4183G>T
5g.13866278C>GCA359226859DNAH5c.4058G>C (p.Gly1353Ala)
c.4013G>C (p.Gly1338Ala)
n.4265G>C
c.4166G>C (p.Gly1389Ala)
c.3071G>C (p.Gly1024Ala)
c.2660G>C (p.Gly887Ala)
n.4183G>C
5g.13866278C>TCA359226863DNAH5c.4058G>A (p.Gly1353Asp)
c.4013G>A (p.Gly1338Asp)
n.4265G>A
c.4166G>A (p.Gly1389Asp)
c.3071G>A (p.Gly1024Asp)
c.2660G>A (p.Gly887Asp)
n.4183G>A
 gnomAD v4
5g.13866279C>ACA3204091DNAH5c.4057G>T (p.Gly1353Cys)
c.4012G>T (p.Gly1338Cys)
n.4264G>T
c.4165G>T (p.Gly1389Cys)
c.3070G>T (p.Gly1024Cys)
c.2659G>T (p.Gly887Cys)
n.4182G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866279C=CA1528476342DNAH5c.4057G= (p.Gly1353=)
c.4012G= (p.Gly1338=)
n.4264G=
c.4165G= (p.Gly1389=)
c.3070G= (p.Gly1024=)
c.2659G= (p.Gly887=)
n.4182G=
5g.13866279C>GCA359226878DNAH5c.4057G>C (p.Gly1353Arg)
c.4012G>C (p.Gly1338Arg)
n.4264G>C
c.4165G>C (p.Gly1389Arg)
c.3070G>C (p.Gly1024Arg)
c.2659G>C (p.Gly887Arg)
n.4182G>C
5g.13866279C>TCA359226866DNAH5c.4057G>A (p.Gly1353Ser)
c.4012G>A (p.Gly1338Ser)
n.4264G>A
c.4165G>A (p.Gly1389Ser)
c.3070G>A (p.Gly1024Ser)
c.2659G>A (p.Gly887Ser)
n.4182G>A
5g.13866280A=CA1528476344DNAH5c.4056T= (p.Asn1352=)
c.4011T= (p.Asn1337=)
n.4263T=
c.4164T= (p.Asn1388=)
c.3069T= (p.Asn1023=)
c.2658T= (p.Asn886=)
n.4181T=
5g.13866280A>CCA359226894DNAH5c.4056T>G (p.Asn1352Lys)
c.4011T>G (p.Asn1337Lys)
n.4263T>G
c.4164T>G (p.Asn1388Lys)
c.3069T>G (p.Asn1023Lys)
c.2658T>G (p.Asn886Lys)
n.4181T>G
 dbSNP
5g.13866280A>GCA443263347DNAH5c.4056T>C (p.Asn1352=)
c.4011T>C (p.Asn1337=)
n.4263T>C
c.4164T>C (p.Asn1388=)
c.3069T>C (p.Asn1023=)
c.2658T>C (p.Asn886=)
n.4181T>C
 ClinVar
5g.13866280A>TCA359226891DNAH5c.4056T>A (p.Asn1352Lys)
c.4011T>A (p.Asn1337Lys)
n.4263T>A
c.4164T>A (p.Asn1388Lys)
c.3069T>A (p.Asn1023Lys)
c.2658T>A (p.Asn886Lys)
n.4181T>A
5g.13866281T>ACA359226899DNAH5c.4055A>T (p.Asn1352Ile)
c.4010A>T (p.Asn1337Ile)
n.4262A>T
c.4163A>T (p.Asn1388Ile)
c.3068A>T (p.Asn1023Ile)
c.2657A>T (p.Asn886Ile)
n.4180A>T
5g.13866281T>CCA359226923DNAH5c.4055A>G (p.Asn1352Ser)
c.4010A>G (p.Asn1337Ser)
n.4262A>G
c.4163A>G (p.Asn1388Ser)
c.3068A>G (p.Asn1023Ser)
c.2657A>G (p.Asn886Ser)
n.4180A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13866281T>GCA113977227DNAH5c.4055A>C (p.Asn1352Thr)
c.4010A>C (p.Asn1337Thr)
n.4262A>C
c.4163A>C (p.Asn1388Thr)
c.3068A>C (p.Asn1023Thr)
c.2657A>C (p.Asn886Thr)
n.4180A>C
 dbSNP COSMIC
5g.13866281T=CA1528476345DNAH5c.4055A= (p.Asn1352=)
c.4010A= (p.Asn1337=)
n.4262A=
c.4163A= (p.Asn1388=)
c.3068A= (p.Asn1023=)
c.2657A= (p.Asn886=)
n.4180A=
5g.13866282T>ACA359226939DNAH5c.4054A>T (p.Asn1352Tyr)
c.4009A>T (p.Asn1337Tyr)
n.4261A>T
c.4162A>T (p.Asn1388Tyr)
c.3067A>T (p.Asn1023Tyr)
c.2656A>T (p.Asn886Tyr)
n.4179A>T
5g.13866282T>CCA359226958DNAH5c.4054A>G (p.Asn1352Asp)
c.4009A>G (p.Asn1337Asp)
n.4261A>G
c.4162A>G (p.Asn1388Asp)
c.3067A>G (p.Asn1023Asp)
c.2656A>G (p.Asn886Asp)
n.4179A>G
5g.13866282T>GCA359226962DNAH5c.4054A>C (p.Asn1352His)
c.4009A>C (p.Asn1337His)
n.4261A>C
c.4162A>C (p.Asn1388His)
c.3067A>C (p.Asn1023His)
c.2656A>C (p.Asn886His)
n.4179A>C
5g.13866283C>ACA359226971DNAH5c.4054-1G>T (n.4054-1G>T)
c.4009-1G>T (n.4009-1G>T)
n.4261-1G>T
c.4162-1G>T (n.4162-1G>T)
c.3067-1G>T (n.3067-1G>T)
c.2656-1G>T (n.2656-1G>T)
n.4179-1G>T
 gnomAD v4
5g.13866283C>GCA359226972DNAH5c.4054-1G>C (n.4054-1G>C)
c.4009-1G>C (n.4009-1G>C)
n.4261-1G>C
c.4162-1G>C (n.4162-1G>C)
c.3067-1G>C (n.3067-1G>C)
c.2656-1G>C (n.2656-1G>C)
n.4179-1G>C
5g.13866283C>TCA359226974DNAH5c.4054-1G>A (n.4054-1G>A)
c.4009-1G>A (n.4009-1G>A)
n.4261-1G>A
c.4162-1G>A (n.4162-1G>A)
c.3067-1G>A (n.3067-1G>A)
c.2656-1G>A (n.2656-1G>A)
n.4179-1G>A
 ClinVar dbSNP gnomAD v4
5g.13866284T>ACA359226975DNAH5c.4054-2A>T (n.4054-2A>T)
c.4009-2A>T (n.4009-2A>T)
n.4261-2A>T
c.4162-2A>T (n.4162-2A>T)
c.3067-2A>T (n.3067-2A>T)
c.2656-2A>T (n.2656-2A>T)
n.4179-2A>T
5g.13866284T>CCA359226976DNAH5c.4054-2A>G (n.4054-2A>G)
c.4009-2A>G (n.4009-2A>G)
n.4261-2A>G
c.4162-2A>G (n.4162-2A>G)
c.3067-2A>G (n.3067-2A>G)
c.2656-2A>G (n.2656-2A>G)
n.4179-2A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13866284T>GCA359226989DNAH5c.4054-2A>C (n.4054-2A>C)
c.4009-2A>C (n.4009-2A>C)
n.4261-2A>C
c.4162-2A>C (n.4162-2A>C)
c.3067-2A>C (n.3067-2A>C)
c.2656-2A>C (n.2656-2A>C)
n.4179-2A>C
5g.13866284T=CA1528476347DNAH5c.4054-2A= (n.4054-2A=)
c.4009-2A= (n.4009-2A=)
n.4261-2A=
c.4162-2A= (n.4162-2A=)
c.3067-2A= (n.3067-2A=)
c.2656-2A= (n.2656-2A=)
n.4179-2A=
5g.13866285G>ACA804500012DNAH5c.4054-3C>T (n.4054-3C>T)
c.4009-3C>T (n.4009-3C>T)
n.4261-3C>T
c.4162-3C>T (n.4162-3C>T)
c.3067-3C>T (n.3067-3C>T)
c.2656-3C>T (n.2656-3C>T)
n.4179-3C>T
 dbSNP
5g.13866285G=CA1528476349DNAH5c.4054-3C= (n.4054-3C=)
c.4009-3C= (n.4009-3C=)
n.4261-3C=
c.4162-3C= (n.4162-3C=)
c.3067-3C= (n.3067-3C=)
c.2656-3C= (n.2656-3C=)
n.4179-3C=
5g.13866285G>TCA2673276083DNAH5c.4054-3C>A (n.4054-3C>A)
c.4009-3C>A (n.4009-3C>A)
n.4261-3C>A
c.4162-3C>A (n.4162-3C>A)
c.3067-3C>A (n.3067-3C>A)
c.2656-3C>A (n.2656-3C>A)
n.4179-3C>A
 gnomAD v4
5g.13866286A=CA1528476352DNAH5c.4054-4T= (n.4054-4T=)
c.4009-4T= (n.4009-4T=)
n.4261-4T=
c.4162-4T= (n.4162-4T=)
c.3067-4T= (n.3067-4T=)
c.2656-4T= (n.2656-4T=)
n.4179-4T=
5g.13866286A>GCA3204092DNAH5c.4054-4T>C (n.4054-4T>C)
c.4009-4T>C (n.4009-4T>C)
n.4261-4T>C
c.4162-4T>C (n.4162-4T>C)
c.3067-4T>C (n.3067-4T>C)
c.2656-4T>C (n.2656-4T>C)
n.4179-4T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866287A>GCA2573138486DNAH5c.4054-5T>C (n.4054-5T>C)
c.4009-5T>C (n.4009-5T>C)
n.4261-5T>C
c.4162-5T>C (n.4162-5T>C)
c.3067-5T>C (n.3067-5T>C)
c.2656-5T>C (n.2656-5T>C)
n.4179-5T>C
 ClinVar dbSNP
5g.13866288C>ACA2673276084DNAH5c.4054-6G>T (n.4054-6G>T)
c.4009-6G>T (n.4009-6G>T)
n.4261-6G>T
c.4162-6G>T (n.4162-6G>T)
c.3067-6G>T (n.3067-6G>T)
c.2656-6G>T (n.2656-6G>T)
n.4179-6G>T
 gnomAD v4
5g.13866288C=CA1528476354DNAH5c.4054-6G= (n.4054-6G=)
c.4009-6G= (n.4009-6G=)
n.4261-6G=
c.4162-6G= (n.4162-6G=)
c.3067-6G= (n.3067-6G=)
c.2656-6G= (n.2656-6G=)
n.4179-6G=
5g.13866288C>GCA3204093DNAH5c.4054-6G>C (n.4054-6G>C)
c.4009-6G>C (n.4009-6G>C)
n.4261-6G>C
c.4162-6G>C (n.4162-6G>C)
c.3067-6G>C (n.3067-6G>C)
c.2656-6G>C (n.2656-6G>C)
n.4179-6G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866289A>GCA2673276085DNAH5c.4054-7T>C (n.4054-7T>C)
c.4009-7T>C (n.4009-7T>C)
n.4261-7T>C
c.4162-7T>C (n.4162-7T>C)
c.3067-7T>C (n.3067-7T>C)
c.2656-7T>C (n.2656-7T>C)
n.4179-7T>C
 gnomAD v4
5g.13866292A>CCA2739274630DNAH5c.4054-10T>G (n.4054-10T>G)
c.4009-10T>G (n.4009-10T>G)
n.4261-10T>G
c.4162-10T>G (n.4162-10T>G)
c.3067-10T>G (n.3067-10T>G)
c.2656-10T>G (n.2656-10T>G)
n.4179-10T>G
 ClinVar
5g.13866292A>GCA2673276086DNAH5c.4054-10T>C (n.4054-10T>C)
c.4009-10T>C (n.4009-10T>C)
n.4261-10T>C
c.4162-10T>C (n.4162-10T>C)
c.3067-10T>C (n.3067-10T>C)
c.2656-10T>C (n.2656-10T>C)
n.4179-10T>C
 gnomAD v4
5g.13866292A>TCA2673276087DNAH5c.4054-10T>A (n.4054-10T>A)
c.4009-10T>A (n.4009-10T>A)
n.4261-10T>A
c.4162-10T>A (n.4162-10T>A)
c.3067-10T>A (n.3067-10T>A)
c.2656-10T>A (n.2656-10T>A)
n.4179-10T>A
 gnomAD v4
5g.13866294G>ACA2673276088DNAH5c.4054-12C>T (n.4054-12C>T)
c.4009-12C>T (n.4009-12C>T)
n.4261-12C>T
c.4162-12C>T (n.4162-12C>T)
c.3067-12C>T (n.3067-12C>T)
c.2656-12C>T (n.2656-12C>T)
n.4179-12C>T
 gnomAD v4
5g.13866294G>CCA1528476356DNAH5c.4054-12C>G (n.4054-12C>G)
c.4009-12C>G (n.4009-12C>G)
n.4261-12C>G
c.4162-12C>G (n.4162-12C>G)
c.3067-12C>G (n.3067-12C>G)
c.2656-12C>G (n.2656-12C>G)
n.4179-12C>G
 ClinVar dbSNP gnomAD v4
5g.13866294G=CA1528476355DNAH5c.4054-12C= (n.4054-12C=)
c.4009-12C= (n.4009-12C=)
n.4261-12C=
c.4162-12C= (n.4162-12C=)
c.3067-12C= (n.3067-12C=)
c.2656-12C= (n.2656-12C=)
n.4179-12C=
5g.13866295T>ACA3204094DNAH5c.4054-13A>T (n.4054-13A>T)
c.4009-13A>T (n.4009-13A>T)
n.4261-13A>T
c.4162-13A>T (n.4162-13A>T)
c.3067-13A>T (n.3067-13A>T)
c.2656-13A>T (n.2656-13A>T)
n.4179-13A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866295T>GCA2561548101DNAH5c.4054-13A>C (n.4054-13A>C)
c.4009-13A>C (n.4009-13A>C)
n.4261-13A>C
c.4162-13A>C (n.4162-13A>C)
c.3067-13A>C (n.3067-13A>C)
c.2656-13A>C (n.2656-13A>C)
n.4179-13A>C
5g.13866295T=CA1528476358DNAH5c.4054-13A= (n.4054-13A=)
c.4009-13A= (n.4009-13A=)
n.4261-13A=
c.4162-13A= (n.4162-13A=)
c.3067-13A= (n.3067-13A=)
c.2656-13A= (n.2656-13A=)
n.4179-13A=
5g.13866295_13866296delinsTACA1528476359DNAH5c.4054-14_4054-13delinsTA (n.4054-14_4054-13delinsTA)
c.4009-14_4009-13delinsTA (n.4009-14_4009-13delinsTA)
n.4261-14_4261-13delinsTA
c.4162-14_4162-13delinsTA (n.4162-14_4162-13delinsTA)
c.3067-14_3067-13delinsTA (n.3067-14_3067-13delinsTA)
c.2656-14_2656-13delinsTA (n.2656-14_2656-13delinsTA)
n.4179-14_4179-13delinsTA
5g.13866296A>TCA2673276089DNAH5c.4054-14T>A (n.4054-14T>A)
c.4009-14T>A (n.4009-14T>A)
n.4261-14T>A
c.4162-14T>A (n.4162-14T>A)
c.3067-14T>A (n.3067-14T>A)
c.2656-14T>A (n.2656-14T>A)
n.4179-14T>A
 gnomAD v4
5g.13866302dupCA1073406853DNAH5c.4054-14dup (n.4054-14dup)
c.4009-14dup (n.4009-14dup)
n.4261-14dup
c.4162-14dup (n.4162-14dup)
c.3067-14dup (n.3067-14dup)
c.2656-14dup (n.2656-14dup)
n.4179-14dup
 dbSNP gnomAD v3 gnomAD v4
5g.13866302delCA917418295DNAH5c.4054-14del (n.4054-14del)
c.4009-14del (n.4009-14del)
n.4261-14del
c.4162-14del (n.4162-14del)
c.3067-14del (n.3067-14del)
c.2656-14del (n.2656-14del)
n.4179-14del
 dbSNP gnomAD v4
5g.13866297A=CA1528476361DNAH5c.4054-15T= (n.4054-15T=)
c.4009-15T= (n.4009-15T=)
n.4261-15T=
c.4162-15T= (n.4162-15T=)
c.3067-15T= (n.3067-15T=)
c.2656-15T= (n.2656-15T=)
n.4179-15T=
5g.13866297A>TCA1073406856DNAH5c.4054-15T>A (n.4054-15T>A)
c.4009-15T>A (n.4009-15T>A)
n.4261-15T>A
c.4162-15T>A (n.4162-15T>A)
c.3067-15T>A (n.3067-15T>A)
c.2656-15T>A (n.2656-15T>A)
n.4179-15T>A
 dbSNP gnomAD v3 gnomAD v4
5g.13866298A>GCA2673276090DNAH5c.4054-16T>C (n.4054-16T>C)
c.4009-16T>C (n.4009-16T>C)
n.4261-16T>C
c.4162-16T>C (n.4162-16T>C)
c.3067-16T>C (n.3067-16T>C)
c.2656-16T>C (n.2656-16T>C)
n.4179-16T>C
 ClinVar gnomAD v4
5g.13866299A>GCA2673276091DNAH5c.4054-17T>C (n.4054-17T>C)
c.4009-17T>C (n.4009-17T>C)
n.4261-17T>C
c.4162-17T>C (n.4162-17T>C)
c.3067-17T>C (n.3067-17T>C)
c.2656-17T>C (n.2656-17T>C)
n.4179-17T>C
 ClinVar gnomAD v4
5g.13866300A=CA1528476362DNAH5c.4054-18T= (n.4054-18T=)
c.4009-18T= (n.4009-18T=)
n.4261-18T=
c.4162-18T= (n.4162-18T=)
c.3067-18T= (n.3067-18T=)
c.2656-18T= (n.2656-18T=)
n.4179-18T=
5g.13866300A>GCA557873633DNAH5c.4054-18T>C (n.4054-18T>C)
c.4009-18T>C (n.4009-18T>C)
n.4261-18T>C
c.4162-18T>C (n.4162-18T>C)
c.3067-18T>C (n.3067-18T>C)
c.2656-18T>C (n.2656-18T>C)
n.4179-18T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13866300_13866301insCAACAACAACCA2534428068DNAH5c.4054-19_4054-18insGTTGTTGTTG (n.4054-19_4054-18insGTTGTTGTTG)
c.4009-19_4009-18insGTTGTTGTTG (n.4009-19_4009-18insGTTGTTGTTG)
n.4261-19_4261-18insGTTGTTGTTG
c.4162-19_4162-18insGTTGTTGTTG (n.4162-19_4162-18insGTTGTTGTTG)
c.3067-19_3067-18insGTTGTTGTTG (n.3067-19_3067-18insGTTGTTGTTG)
c.2656-19_2656-18insGTTGTTGTTG (n.2656-19_2656-18insGTTGTTGTTG)
n.4179-19_4179-18insGTTGTTGTTG
5g.13866301A>TCA2592520398DNAH5c.4054-19T>A (n.4054-19T>A)
c.4009-19T>A (n.4009-19T>A)
n.4261-19T>A
c.4162-19T>A (n.4162-19T>A)
c.3067-19T>A (n.3067-19T>A)
c.2656-19T>A (n.2656-19T>A)
n.4179-19T>A
 ClinVar gnomAD v3 gnomAD v4
5g.13866302A=CA1528476364DNAH5c.4054-20T= (n.4054-20T=)
c.4009-20T= (n.4009-20T=)
n.4261-20T=
c.4162-20T= (n.4162-20T=)
c.3067-20T= (n.3067-20T=)
c.2656-20T= (n.2656-20T=)
n.4179-20T=
5g.13866302A>CCA2673276092DNAH5c.4054-20T>G (n.4054-20T>G)
c.4009-20T>G (n.4009-20T>G)
n.4261-20T>G
c.4162-20T>G (n.4162-20T>G)
c.3067-20T>G (n.3067-20T>G)
c.2656-20T>G (n.2656-20T>G)
n.4179-20T>G
 gnomAD v4
5g.13866302A>GCA3204095DNAH5c.4054-20T>C (n.4054-20T>C)
c.4009-20T>C (n.4009-20T>C)
n.4261-20T>C
c.4162-20T>C (n.4162-20T>C)
c.3067-20T>C (n.3067-20T>C)
c.2656-20T>C (n.2656-20T>C)
n.4179-20T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866303G>ACA557873636DNAH5c.4054-21C>T (n.4054-21C>T)
c.4009-21C>T (n.4009-21C>T)
n.4261-21C>T
c.4162-21C>T (n.4162-21C>T)
c.3067-21C>T (n.3067-21C>T)
c.2656-21C>T (n.2656-21C>T)
n.4179-21C>T
 dbSNP gnomAD v2
5g.13866303G>CCA557873638DNAH5c.4054-21C>G (n.4054-21C>G)
c.4009-21C>G (n.4009-21C>G)
n.4261-21C>G
c.4162-21C>G (n.4162-21C>G)
c.3067-21C>G (n.3067-21C>G)
c.2656-21C>G (n.2656-21C>G)
n.4179-21C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13866303G=CA1528476367DNAH5c.4054-21C= (n.4054-21C=)
c.4009-21C= (n.4009-21C=)
n.4261-21C=
c.4162-21C= (n.4162-21C=)
c.3067-21C= (n.3067-21C=)
c.2656-21C= (n.2656-21C=)
n.4179-21C=
5g.13866308delCA2673276093DNAH5c.4054-22del (n.4054-22del)
c.4009-22del (n.4009-22del)
n.4261-22del
c.4162-22del (n.4162-22del)
c.3067-22del (n.3067-22del)
c.2656-22del (n.2656-22del)
n.4179-22del
 gnomAD v4
5g.13866306A=CA1528476369DNAH5c.4054-24T= (n.4054-24T=)
c.4009-24T= (n.4009-24T=)
n.4261-24T=
c.4162-24T= (n.4162-24T=)
c.3067-24T= (n.3067-24T=)
c.2656-24T= (n.2656-24T=)
n.4179-24T=
5g.13866306A>GCA557873640DNAH5c.4054-24T>C (n.4054-24T>C)
c.4009-24T>C (n.4009-24T>C)
n.4261-24T>C
c.4162-24T>C (n.4162-24T>C)
c.3067-24T>C (n.3067-24T>C)
c.2656-24T>C (n.2656-24T>C)
n.4179-24T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13866307A>GCA2673276094DNAH5c.4054-25T>C (n.4054-25T>C)
c.4009-25T>C (n.4009-25T>C)
n.4261-25T>C
c.4162-25T>C (n.4162-25T>C)
c.3067-25T>C (n.3067-25T>C)
c.2656-25T>C (n.2656-25T>C)
n.4179-25T>C
 gnomAD v4
5g.13866309T>ACA2673276095DNAH5c.4054-27A>T (n.4054-27A>T)
c.4009-27A>T (n.4009-27A>T)
n.4261-27A>T
c.4162-27A>T (n.4162-27A>T)
c.3067-27A>T (n.3067-27A>T)
c.2656-27A>T (n.2656-27A>T)
n.4179-27A>T
 gnomAD v4
5g.13866309T>CCA3204096DNAH5c.4054-27A>G (n.4054-27A>G)
c.4009-27A>G (n.4009-27A>G)
n.4261-27A>G
c.4162-27A>G (n.4162-27A>G)
c.3067-27A>G (n.3067-27A>G)
c.2656-27A>G (n.2656-27A>G)
n.4179-27A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13866309T=CA1528476372DNAH5c.4054-27A= (n.4054-27A=)
c.4009-27A= (n.4009-27A=)
n.4261-27A=
c.4162-27A= (n.4162-27A=)
c.3067-27A= (n.3067-27A=)
c.2656-27A= (n.2656-27A=)
n.4179-27A=
5g.13866309_13866313delinsTAGAACA1528476373DNAH5c.4054-31_4054-27delinsTTCTA (n.4054-31_4054-27delinsTTCTA)
c.4009-31_4009-27delinsTTCTA (n.4009-31_4009-27delinsTTCTA)
n.4261-31_4261-27delinsTTCTA
c.4162-31_4162-27delinsTTCTA (n.4162-31_4162-27delinsTTCTA)
c.3067-31_3067-27delinsTTCTA (n.3067-31_3067-27delinsTTCTA)
c.2656-31_2656-27delinsTTCTA (n.2656-31_2656-27delinsTTCTA)
n.4179-31_4179-27delinsTTCTA
5g.13866310A=CA1528476376DNAH5c.4054-28T= (n.4054-28T=)
c.4009-28T= (n.4009-28T=)
n.4261-28T=
c.4162-28T= (n.4162-28T=)
c.3067-28T= (n.3067-28T=)
c.2656-28T= (n.2656-28T=)
n.4179-28T=
5g.13866310A>CCA557873641DNAH5c.4054-28T>G (n.4054-28T>G)
c.4009-28T>G (n.4009-28T>G)
n.4261-28T>G
c.4162-28T>G (n.4162-28T>G)
c.3067-28T>G (n.3067-28T>G)
c.2656-28T>G (n.2656-28T>G)
n.4179-28T>G
 dbSNP gnomAD v2
5g.13866310_13866313delCA804500036DNAH5c.4054-31_4054-28del (n.4054-31_4054-28del)
c.4009-31_4009-28del (n.4009-31_4009-28del)
n.4261-31_4261-28del
c.4162-31_4162-28del (n.4162-31_4162-28del)
c.3067-31_3067-28del (n.3067-31_3067-28del)
c.2656-31_2656-28del (n.2656-31_2656-28del)
n.4179-31_4179-28del
 dbSNP
5g.13866311G>ACA804500039DNAH5c.4054-29C>T (n.4054-29C>T)
c.4009-29C>T (n.4009-29C>T)
n.4261-29C>T
c.4162-29C>T (n.4162-29C>T)
c.3067-29C>T (n.3067-29C>T)
c.2656-29C>T (n.2656-29C>T)
n.4179-29C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13866311G>CCA557873642DNAH5c.4054-29C>G (n.4054-29C>G)
c.4009-29C>G (n.4009-29C>G)
n.4261-29C>G
c.4162-29C>G (n.4162-29C>G)
c.3067-29C>G (n.3067-29C>G)
c.2656-29C>G (n.2656-29C>G)
n.4179-29C>G
 dbSNP gnomAD v2 gnomAD v4
5g.13866311G=CA1528476380DNAH5c.4054-29C= (n.4054-29C=)
c.4009-29C= (n.4009-29C=)
n.4261-29C=
c.4162-29C= (n.4162-29C=)
c.3067-29C= (n.3067-29C=)
c.2656-29C= (n.2656-29C=)
n.4179-29C=
5g.13866311G>TCA2673276096DNAH5c.4054-29C>A (n.4054-29C>A)
c.4009-29C>A (n.4009-29C>A)
n.4261-29C>A
c.4162-29C>A (n.4162-29C>A)
c.3067-29C>A (n.3067-29C>A)
c.2656-29C>A (n.2656-29C>A)
n.4179-29C>A
 gnomAD v4
5g.13866311_13866312delinsGACA1528476378DNAH5c.4054-30_4054-29delinsTC (n.4054-30_4054-29delinsTC)
c.4009-30_4009-29delinsTC (n.4009-30_4009-29delinsTC)
n.4261-30_4261-29delinsTC
c.4162-30_4162-29delinsTC (n.4162-30_4162-29delinsTC)
c.3067-30_3067-29delinsTC (n.3067-30_3067-29delinsTC)
c.2656-30_2656-29delinsTC (n.2656-30_2656-29delinsTC)
n.4179-30_4179-29delinsTC
5g.13866311_13866312insGGCCGGGCGCGGTGGCTCACGCCTGTCA1073406892DNAH5c.4054-30_4054-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4054-30_4054-29insACAGGCGTGAGCCACCGCGCCCGGCC)
c.4009-30_4009-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4009-30_4009-29insACAGGCGTGAGCCACCGCGCCCGGCC)
n.4261-30_4261-29insACAGGCGTGAGCCACCGCGCCCGGCC
c.4162-30_4162-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4162-30_4162-29insACAGGCGTGAGCCACCGCGCCCGGCC)
c.3067-30_3067-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.3067-30_3067-29insACAGGCGTGAGCCACCGCGCCCGGCC)
c.2656-30_2656-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.2656-30_2656-29insACAGGCGTGAGCCACCGCGCCCGGCC)
n.4179-30_4179-29insACAGGCGTGAGCCACCGCGCCCGGCC
 gnomAD v3 gnomAD v4
5g.13866312A>GCA2765350414DNAH5c.4054-30T>C (n.4054-30T>C)
c.4009-30T>C (n.4009-30T>C)
n.4261-30T>C
c.4162-30T>C (n.4162-30T>C)
c.3067-30T>C (n.3067-30T>C)
c.2656-30T>C (n.2656-30T>C)
n.4179-30T>C
5g.13866313delCA804500042DNAH5c.4054-30del (n.4054-30del)
c.4009-30del (n.4009-30del)
n.4261-30del
c.4162-30del (n.4162-30del)
c.3067-30del (n.3067-30del)
c.2656-30del (n.2656-30del)
n.4179-30del
 dbSNP gnomAD v3 gnomAD v4
5g.13866314G>ACA113977263DNAH5c.4054-32C>T (n.4054-32C>T)
c.4009-32C>T (n.4009-32C>T)
n.4261-32C>T
c.4162-32C>T (n.4162-32C>T)
c.3067-32C>T (n.3067-32C>T)
c.2656-32C>T (n.2656-32C>T)
n.4179-32C>T
 dbSNP
5g.13866314G>CCA2707905050DNAH5c.4054-32C>G (n.4054-32C>G)
c.4009-32C>G (n.4009-32C>G)
n.4261-32C>G
c.4162-32C>G (n.4162-32C>G)
c.3067-32C>G (n.3067-32C>G)
c.2656-32C>G (n.2656-32C>G)
n.4179-32C>G
 dbSNP
5g.13866314G=CA1528476382DNAH5c.4054-32C= (n.4054-32C=)
c.4009-32C= (n.4009-32C=)
n.4261-32C=
c.4162-32C= (n.4162-32C=)
c.3067-32C= (n.3067-32C=)
c.2656-32C= (n.2656-32C=)
n.4179-32C=
5g.13866314G>TCA2673276097DNAH5c.4054-32C>A (n.4054-32C>A)
c.4009-32C>A (n.4009-32C>A)
n.4261-32C>A
c.4162-32C>A (n.4162-32C>A)
c.3067-32C>A (n.3067-32C>A)
c.2656-32C>A (n.2656-32C>A)
n.4179-32C>A
 gnomAD v4
5g.13866315G>ACA2673276098DNAH5c.4054-33C>T (n.4054-33C>T)
c.4009-33C>T (n.4009-33C>T)
n.4261-33C>T
c.4162-33C>T (n.4162-33C>T)
c.3067-33C>T (n.3067-33C>T)
c.2656-33C>T (n.2656-33C>T)
n.4179-33C>T
 gnomAD v4
5g.13866315G>CCA2673276099DNAH5c.4054-33C>G (n.4054-33C>G)
c.4009-33C>G (n.4009-33C>G)
n.4261-33C>G
c.4162-33C>G (n.4162-33C>G)
c.3067-33C>G (n.3067-33C>G)
c.2656-33C>G (n.2656-33C>G)
n.4179-33C>G
 gnomAD v4
5g.13866315G=CA1528476384DNAH5c.4054-33C= (n.4054-33C=)
c.4009-33C= (n.4009-33C=)
n.4261-33C=
c.4162-33C= (n.4162-33C=)
c.3067-33C= (n.3067-33C=)
c.2656-33C= (n.2656-33C=)
n.4179-33C=
5g.13866315G>TCA804500043DNAH5c.4054-33C>A (n.4054-33C>A)
c.4009-33C>A (n.4009-33C>A)
n.4261-33C>A
c.4162-33C>A (n.4162-33C>A)
c.3067-33C>A (n.3067-33C>A)
c.2656-33C>A (n.2656-33C>A)
n.4179-33C>A
 dbSNP gnomAD v4
5g.13866316A>CCA2673276100DNAH5c.4054-34T>G (n.4054-34T>G)
c.4009-34T>G (n.4009-34T>G)
n.4261-34T>G
c.4162-34T>G (n.4162-34T>G)
c.3067-34T>G (n.3067-34T>G)
c.2656-34T>G (n.2656-34T>G)
n.4179-34T>G
 gnomAD v4
5g.13866317A=CA1528476386DNAH5c.4054-35T= (n.4054-35T=)
c.4009-35T= (n.4009-35T=)
n.4261-35T=
c.4162-35T= (n.4162-35T=)
c.3067-35T= (n.3067-35T=)
c.2656-35T= (n.2656-35T=)
n.4179-35T=
5g.13866317A>GCA3204097DNAH5c.4054-35T>C (n.4054-35T>C)
c.4009-35T>C (n.4009-35T>C)
n.4261-35T>C
c.4162-35T>C (n.4162-35T>C)
c.3067-35T>C (n.3067-35T>C)
c.2656-35T>C (n.2656-35T>C)
n.4179-35T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13866318G>ACA2578270798DNAH5c.4054-36C>T (n.4054-36C>T)
c.4009-36C>T (n.4009-36C>T)
n.4261-36C>T
c.4162-36C>T (n.4162-36C>T)
c.3067-36C>T (n.3067-36C>T)
c.2656-36C>T (n.2656-36C>T)
n.4179-36C>T
 gnomAD v4
5g.13866318G>CCA2673276101DNAH5c.4054-36C>G (n.4054-36C>G)
c.4009-36C>G (n.4009-36C>G)
n.4261-36C>G
c.4162-36C>G (n.4162-36C>G)
c.3067-36C>G (n.3067-36C>G)
c.2656-36C>G (n.2656-36C>G)
n.4179-36C>G
 gnomAD v4
5g.13866318G>TCA2673276102DNAH5c.4054-36C>A (n.4054-36C>A)
c.4009-36C>A (n.4009-36C>A)
n.4261-36C>A
c.4162-36C>A (n.4162-36C>A)
c.3067-36C>A (n.3067-36C>A)
c.2656-36C>A (n.2656-36C>A)
n.4179-36C>A
 gnomAD v4

Number of alleles fetched