Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13692001G>ACA443248604DNAH5n.1191C>T
c.13858C>T (p.Leu4620=)
c.13813C>T (p.Leu4605=)
c.13966C>T (p.Leu4656=)
c.13546C>T (p.Leu4516=)
c.12871C>T (p.Leu4291=)
c.9055C>T (p.Leu3019=)
c.8608C>T (p.Leu2870=)
c.7945C>T (p.Leu2649=)
c.12460C>T (p.Leu4154=)
5g.13692001G>CCA359188514DNAH5n.1191C>G
c.13858C>G (p.Leu4620Val)
c.13813C>G (p.Leu4605Val)
c.13966C>G (p.Leu4656Val)
c.13546C>G (p.Leu4516Val)
c.12871C>G (p.Leu4291Val)
c.9055C>G (p.Leu3019Val)
c.8608C>G (p.Leu2870Val)
c.7945C>G (p.Leu2649Val)
c.12460C>G (p.Leu4154Val)
5g.13692001G>TCA359188515DNAH5n.1191C>A
c.13858C>A (p.Leu4620Met)
c.13813C>A (p.Leu4605Met)
c.13966C>A (p.Leu4656Met)
c.13546C>A (p.Leu4516Met)
c.12871C>A (p.Leu4291Met)
c.9055C>A (p.Leu3019Met)
c.8608C>A (p.Leu2870Met)
c.7945C>A (p.Leu2649Met)
c.12460C>A (p.Leu4154Met)
5g.13692002A>CCA443248605DNAH5n.1190T>G
c.13857T>G (p.Leu4619=)
c.13812T>G (p.Leu4604=)
c.13965T>G (p.Leu4655=)
c.13545T>G (p.Leu4515=)
c.12870T>G (p.Leu4290=)
c.9054T>G (p.Leu3018=)
c.8607T>G (p.Leu2869=)
c.7944T>G (p.Leu2648=)
c.12459T>G (p.Leu4153=)
5g.13692002A>GCA443248607DNAH5n.1190T>C
c.13857T>C (p.Leu4619=)
c.13812T>C (p.Leu4604=)
c.13965T>C (p.Leu4655=)
c.13545T>C (p.Leu4515=)
c.12870T>C (p.Leu4290=)
c.9054T>C (p.Leu3018=)
c.8607T>C (p.Leu2869=)
c.7944T>C (p.Leu2648=)
c.12459T>C (p.Leu4153=)
5g.13692002A>TCA443248608DNAH5n.1190T>A
c.13857T>A (p.Leu4619=)
c.13812T>A (p.Leu4604=)
c.13965T>A (p.Leu4655=)
c.13545T>A (p.Leu4515=)
c.12870T>A (p.Leu4290=)
c.9054T>A (p.Leu3018=)
c.8607T>A (p.Leu2869=)
c.7944T>A (p.Leu2648=)
c.12459T>A (p.Leu4153=)
5g.13692003A>CCA359188516DNAH5n.1189T>G
c.13856T>G (p.Leu4619Arg)
c.13811T>G (p.Leu4604Arg)
c.13964T>G (p.Leu4655Arg)
c.13544T>G (p.Leu4515Arg)
c.12869T>G (p.Leu4290Arg)
c.9053T>G (p.Leu3018Arg)
c.8606T>G (p.Leu2869Arg)
c.7943T>G (p.Leu2648Arg)
c.12458T>G (p.Leu4153Arg)
5g.13692003A>GCA359188517DNAH5n.1189T>C
c.13856T>C (p.Leu4619Pro)
c.13811T>C (p.Leu4604Pro)
c.13964T>C (p.Leu4655Pro)
c.13544T>C (p.Leu4515Pro)
c.12869T>C (p.Leu4290Pro)
c.9053T>C (p.Leu3018Pro)
c.8606T>C (p.Leu2869Pro)
c.7943T>C (p.Leu2648Pro)
c.12458T>C (p.Leu4153Pro)
5g.13692003A>TCA359188518DNAH5n.1189T>A
c.13856T>A (p.Leu4619His)
c.13811T>A (p.Leu4604His)
c.13964T>A (p.Leu4655His)
c.13544T>A (p.Leu4515His)
c.12869T>A (p.Leu4290His)
c.9053T>A (p.Leu3018His)
c.8606T>A (p.Leu2869His)
c.7943T>A (p.Leu2648His)
c.12458T>A (p.Leu4153His)
5g.13692004G>ACA359188520DNAH5n.1188C>T
c.13855C>T (p.Leu4619Phe)
c.13810C>T (p.Leu4604Phe)
c.13963C>T (p.Leu4655Phe)
c.13543C>T (p.Leu4515Phe)
c.12868C>T (p.Leu4290Phe)
c.9052C>T (p.Leu3018Phe)
c.8605C>T (p.Leu2869Phe)
c.7942C>T (p.Leu2648Phe)
c.12457C>T (p.Leu4153Phe)
 gnomAD v4
5g.13692004G>CCA359188521DNAH5n.1188C>G
c.13855C>G (p.Leu4619Val)
c.13810C>G (p.Leu4604Val)
c.13963C>G (p.Leu4655Val)
c.13543C>G (p.Leu4515Val)
c.12868C>G (p.Leu4290Val)
c.9052C>G (p.Leu3018Val)
c.8605C>G (p.Leu2869Val)
c.7942C>G (p.Leu2648Val)
c.12457C>G (p.Leu4153Val)
5g.13692004G>TCA359188519DNAH5n.1188C>A
c.13855C>A (p.Leu4619Ile)
c.13810C>A (p.Leu4604Ile)
c.13963C>A (p.Leu4655Ile)
c.13543C>A (p.Leu4515Ile)
c.12868C>A (p.Leu4290Ile)
c.9052C>A (p.Leu3018Ile)
c.8605C>A (p.Leu2869Ile)
c.7942C>A (p.Leu2648Ile)
c.12457C>A (p.Leu4153Ile)
 gnomAD v4 COSMIC
5g.13692005G>ACA443248611DNAH5n.1187C>T
c.13854C>T (p.Ala4618=)
c.13809C>T (p.Ala4603=)
c.13962C>T (p.Ala4654=)
c.13542C>T (p.Ala4514=)
c.12867C>T (p.Ala4289=)
c.9051C>T (p.Ala3017=)
c.8604C>T (p.Ala2868=)
c.7941C>T (p.Ala2647=)
c.12456C>T (p.Ala4152=)
5g.13692005G>CCA443248612DNAH5n.1187C>G
c.13854C>G (p.Ala4618=)
c.13809C>G (p.Ala4603=)
c.13962C>G (p.Ala4654=)
c.13542C>G (p.Ala4514=)
c.12867C>G (p.Ala4289=)
c.9051C>G (p.Ala3017=)
c.8604C>G (p.Ala2868=)
c.7941C>G (p.Ala2647=)
c.12456C>G (p.Ala4152=)
5g.13692005G>TCA443248609DNAH5n.1187C>A
c.13854C>A (p.Ala4618=)
c.13809C>A (p.Ala4603=)
c.13962C>A (p.Ala4654=)
c.13542C>A (p.Ala4514=)
c.12867C>A (p.Ala4289=)
c.9051C>A (p.Ala3017=)
c.8604C>A (p.Ala2868=)
c.7941C>A (p.Ala2647=)
c.12456C>A (p.Ala4152=)
5g.13692006G>ACA113905440DNAH5n.1186C>T
c.13853C>T (p.Ala4618Val)
c.13808C>T (p.Ala4603Val)
c.13961C>T (p.Ala4654Val)
c.13541C>T (p.Ala4514Val)
c.12866C>T (p.Ala4289Val)
c.9050C>T (p.Ala3017Val)
c.8603C>T (p.Ala2868Val)
c.7940C>T (p.Ala2647Val)
c.12455C>T (p.Ala4152Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692006G>CCA359188522DNAH5n.1186C>G
c.13853C>G (p.Ala4618Gly)
c.13808C>G (p.Ala4603Gly)
c.13961C>G (p.Ala4654Gly)
c.13541C>G (p.Ala4514Gly)
c.12866C>G (p.Ala4289Gly)
c.9050C>G (p.Ala3017Gly)
c.8603C>G (p.Ala2868Gly)
c.7940C>G (p.Ala2647Gly)
c.12455C>G (p.Ala4152Gly)
5g.13692006G=CA1528395840DNAH5n.1186C=
c.13853C= (p.Ala4618=)
c.13808C= (p.Ala4603=)
c.13961C= (p.Ala4654=)
c.13541C= (p.Ala4514=)
c.12866C= (p.Ala4289=)
c.9050C= (p.Ala3017=)
c.8603C= (p.Ala2868=)
c.7940C= (p.Ala2647=)
c.12455C= (p.Ala4152=)
5g.13692006G>TCA359188523DNAH5n.1186C>A
c.13853C>A (p.Ala4618Asp)
c.13808C>A (p.Ala4603Asp)
c.13961C>A (p.Ala4654Asp)
c.13541C>A (p.Ala4514Asp)
c.12866C>A (p.Ala4289Asp)
c.9050C>A (p.Ala3017Asp)
c.8603C>A (p.Ala2868Asp)
c.7940C>A (p.Ala2647Asp)
c.12455C>A (p.Ala4152Asp)
5g.13692007C>ACA359188524DNAH5n.1185G>T
c.13852G>T (p.Ala4618Ser)
c.13807G>T (p.Ala4603Ser)
c.13960G>T (p.Ala4654Ser)
c.13540G>T (p.Ala4514Ser)
c.12865G>T (p.Ala4289Ser)
c.9049G>T (p.Ala3017Ser)
c.8602G>T (p.Ala2868Ser)
c.7939G>T (p.Ala2647Ser)
c.12454G>T (p.Ala4152Ser)
 gnomAD v4 COSMIC
5g.13692007C>GCA359188525DNAH5n.1185G>C
c.13852G>C (p.Ala4618Pro)
c.13807G>C (p.Ala4603Pro)
c.13960G>C (p.Ala4654Pro)
c.13540G>C (p.Ala4514Pro)
c.12865G>C (p.Ala4289Pro)
c.9049G>C (p.Ala3017Pro)
c.8602G>C (p.Ala2868Pro)
c.7939G>C (p.Ala2647Pro)
c.12454G>C (p.Ala4152Pro)
5g.13692007C>TCA359188526DNAH5n.1185G>A
c.13852G>A (p.Ala4618Thr)
c.13807G>A (p.Ala4603Thr)
c.13960G>A (p.Ala4654Thr)
c.13540G>A (p.Ala4514Thr)
c.12865G>A (p.Ala4289Thr)
c.9049G>A (p.Ala3017Thr)
c.8602G>A (p.Ala2868Thr)
c.7939G>A (p.Ala2647Thr)
c.12454G>A (p.Ala4152Thr)
5g.13692008A>CCA443248616DNAH5n.1184T>G
c.13851T>G (p.Val4617=)
c.13806T>G (p.Val4602=)
c.13959T>G (p.Val4653=)
c.13539T>G (p.Val4513=)
c.12864T>G (p.Val4288=)
c.9048T>G (p.Val3016=)
c.8601T>G (p.Val2867=)
c.7938T>G (p.Val2646=)
c.12453T>G (p.Val4151=)
5g.13692008A>GCA443248613DNAH5n.1184T>C
c.13851T>C (p.Val4617=)
c.13806T>C (p.Val4602=)
c.13959T>C (p.Val4653=)
c.13539T>C (p.Val4513=)
c.12864T>C (p.Val4288=)
c.9048T>C (p.Val3016=)
c.8601T>C (p.Val2867=)
c.7938T>C (p.Val2646=)
c.12453T>C (p.Val4151=)
5g.13692008A>TCA443248614DNAH5n.1184T>A
c.13851T>A (p.Val4617=)
c.13806T>A (p.Val4602=)
c.13959T>A (p.Val4653=)
c.13539T>A (p.Val4513=)
c.12864T>A (p.Val4288=)
c.9048T>A (p.Val3016=)
c.8601T>A (p.Val2867=)
c.7938T>A (p.Val2646=)
c.12453T>A (p.Val4151=)
5g.13692009A=CA1528395841DNAH5n.1183T=
c.13850T= (p.Val4617=)
c.13805T= (p.Val4602=)
c.13958T= (p.Val4653=)
c.13538T= (p.Val4513=)
c.12863T= (p.Val4288=)
c.9047T= (p.Val3016=)
c.8600T= (p.Val2867=)
c.7937T= (p.Val2646=)
c.12452T= (p.Val4151=)
5g.13692009A>CCA359188527DNAH5n.1183T>G
c.13850T>G (p.Val4617Gly)
c.13805T>G (p.Val4602Gly)
c.13958T>G (p.Val4653Gly)
c.13538T>G (p.Val4513Gly)
c.12863T>G (p.Val4288Gly)
c.9047T>G (p.Val3016Gly)
c.8600T>G (p.Val2867Gly)
c.7937T>G (p.Val2646Gly)
c.12452T>G (p.Val4151Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.13692009A>GCA359188528DNAH5n.1183T>C
c.13850T>C (p.Val4617Ala)
c.13805T>C (p.Val4602Ala)
c.13958T>C (p.Val4653Ala)
c.13538T>C (p.Val4513Ala)
c.12863T>C (p.Val4288Ala)
c.9047T>C (p.Val3016Ala)
c.8600T>C (p.Val2867Ala)
c.7937T>C (p.Val2646Ala)
c.12452T>C (p.Val4151Ala)
5g.13692009A>TCA113905443DNAH5n.1183T>A
c.13850T>A (p.Val4617Asp)
c.13805T>A (p.Val4602Asp)
c.13958T>A (p.Val4653Asp)
c.13538T>A (p.Val4513Asp)
c.12863T>A (p.Val4288Asp)
c.9047T>A (p.Val3016Asp)
c.8600T>A (p.Val2867Asp)
c.7937T>A (p.Val2646Asp)
c.12452T>A (p.Val4151Asp)
 dbSNP
5g.13692010C>ACA359188529DNAH5n.1182G>T
c.13849G>T (p.Val4617Phe)
c.13804G>T (p.Val4602Phe)
c.13957G>T (p.Val4653Phe)
c.13537G>T (p.Val4513Phe)
c.12862G>T (p.Val4288Phe)
c.9046G>T (p.Val3016Phe)
c.8599G>T (p.Val2867Phe)
c.7936G>T (p.Val2646Phe)
c.12451G>T (p.Val4151Phe)
 ClinVar gnomAD v4
5g.13692010C=CA1528395842DNAH5n.1182G=
c.13849G= (p.Val4617=)
c.13804G= (p.Val4602=)
c.13957G= (p.Val4653=)
c.13537G= (p.Val4513=)
c.12862G= (p.Val4288=)
c.9046G= (p.Val3016=)
c.8599G= (p.Val2867=)
c.7936G= (p.Val2646=)
c.12451G= (p.Val4151=)
5g.13692010C>GCA359188530DNAH5n.1182G>C
c.13849G>C (p.Val4617Leu)
c.13804G>C (p.Val4602Leu)
c.13957G>C (p.Val4653Leu)
c.13537G>C (p.Val4513Leu)
c.12862G>C (p.Val4288Leu)
c.9046G>C (p.Val3016Leu)
c.8599G>C (p.Val2867Leu)
c.7936G>C (p.Val2646Leu)
c.12451G>C (p.Val4151Leu)
5g.13692010C>TCA113905445DNAH5n.1182G>A
c.13849G>A (p.Val4617Ile)
c.13804G>A (p.Val4602Ile)
c.13957G>A (p.Val4653Ile)
c.13537G>A (p.Val4513Ile)
c.12862G>A (p.Val4288Ile)
c.9046G>A (p.Val3016Ile)
c.8599G>A (p.Val2867Ile)
c.7936G>A (p.Val2646Ile)
c.12451G>A (p.Val4151Ile)
 dbSNP COSMIC
5g.13692013delCA2673266100DNAH5n.1182del
c.13849del (p.Val4617LeufsTer28)
c.13804del (p.Val4602LeufsTer28)
c.13957del (p.Val4653LeufsTer28)
c.13537del (p.Val4513LeufsTer28)
c.12862del (p.Val4288LeufsTer28)
c.9046del (p.Val3016LeufsTer28)
c.8599del (p.Val2867LeufsTer28)
c.7936del (p.Val2646LeufsTer28)
c.12451del (p.Val4151LeufsTer28)
 gnomAD v4
5g.13692011C>ACA3201229DNAH5n.1181G>T
c.13848G>T (p.Gly4616=)
c.13803G>T (p.Gly4601=)
c.13956G>T (p.Gly4652=)
c.13536G>T (p.Gly4512=)
c.12861G>T (p.Gly4287=)
c.9045G>T (p.Gly3015=)
c.8598G>T (p.Gly2866=)
c.7935G>T (p.Gly2645=)
c.12450G>T (p.Gly4150=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692011C=CA1528395843DNAH5n.1181G=
c.13848G= (p.Gly4616=)
c.13803G= (p.Gly4601=)
c.13956G= (p.Gly4652=)
c.13536G= (p.Gly4512=)
c.12861G= (p.Gly4287=)
c.9045G= (p.Gly3015=)
c.8598G= (p.Gly2866=)
c.7935G= (p.Gly2645=)
c.12450G= (p.Gly4150=)
5g.13692011C>GCA443248620DNAH5n.1181G>C
c.13848G>C (p.Gly4616=)
c.13803G>C (p.Gly4601=)
c.13956G>C (p.Gly4652=)
c.13536G>C (p.Gly4512=)
c.12861G>C (p.Gly4287=)
c.9045G>C (p.Gly3015=)
c.8598G>C (p.Gly2866=)
c.7935G>C (p.Gly2645=)
c.12450G>C (p.Gly4150=)
5g.13692011C>TCA443248619DNAH5n.1181G>A
c.13848G>A (p.Gly4616=)
c.13803G>A (p.Gly4601=)
c.13956G>A (p.Gly4652=)
c.13536G>A (p.Gly4512=)
c.12861G>A (p.Gly4287=)
c.9045G>A (p.Gly3015=)
c.8598G>A (p.Gly2866=)
c.7935G>A (p.Gly2645=)
c.12450G>A (p.Gly4150=)
5g.13692012C>ACA359188533DNAH5n.1180G>T
c.13847G>T (p.Gly4616Val)
c.13802G>T (p.Gly4601Val)
c.13955G>T (p.Gly4652Val)
c.13535G>T (p.Gly4512Val)
c.12860G>T (p.Gly4287Val)
c.9044G>T (p.Gly3015Val)
c.8597G>T (p.Gly2866Val)
c.7934G>T (p.Gly2645Val)
c.12449G>T (p.Gly4150Val)
5g.13692012C>GCA359188532DNAH5n.1180G>C
c.13847G>C (p.Gly4616Ala)
c.13802G>C (p.Gly4601Ala)
c.13955G>C (p.Gly4652Ala)
c.13535G>C (p.Gly4512Ala)
c.12860G>C (p.Gly4287Ala)
c.9044G>C (p.Gly3015Ala)
c.8597G>C (p.Gly2866Ala)
c.7934G>C (p.Gly2645Ala)
c.12449G>C (p.Gly4150Ala)
5g.13692012C>TCA359188531DNAH5n.1180G>A
c.13847G>A (p.Gly4616Glu)
c.13802G>A (p.Gly4601Glu)
c.13955G>A (p.Gly4652Glu)
c.13535G>A (p.Gly4512Glu)
c.12860G>A (p.Gly4287Glu)
c.9044G>A (p.Gly3015Glu)
c.8597G>A (p.Gly2866Glu)
c.7934G>A (p.Gly2645Glu)
c.12449G>A (p.Gly4150Glu)
5g.13692013C>ACA359188534DNAH5n.1179G>T
c.13846G>T (p.Gly4616Trp)
c.13801G>T (p.Gly4601Trp)
c.13954G>T (p.Gly4652Trp)
c.13534G>T (p.Gly4512Trp)
c.12859G>T (p.Gly4287Trp)
c.9043G>T (p.Gly3015Trp)
c.8596G>T (p.Gly2866Trp)
c.7933G>T (p.Gly2645Trp)
c.12448G>T (p.Gly4150Trp)
5g.13692013C>GCA359188535DNAH5n.1179G>C
c.13846G>C (p.Gly4616Arg)
c.13801G>C (p.Gly4601Arg)
c.13954G>C (p.Gly4652Arg)
c.13534G>C (p.Gly4512Arg)
c.12859G>C (p.Gly4287Arg)
c.9043G>C (p.Gly3015Arg)
c.8596G>C (p.Gly2866Arg)
c.7933G>C (p.Gly2645Arg)
c.12448G>C (p.Gly4150Arg)
5g.13692013C>TCA359188536DNAH5n.1179G>A
c.13846G>A (p.Gly4616Arg)
c.13801G>A (p.Gly4601Arg)
c.13954G>A (p.Gly4652Arg)
c.13534G>A (p.Gly4512Arg)
c.12859G>A (p.Gly4287Arg)
c.9043G>A (p.Gly3015Arg)
c.8596G>A (p.Gly2866Arg)
c.7933G>A (p.Gly2645Arg)
c.12448G>A (p.Gly4150Arg)
 COSMIC
5g.13692014A>CCA443248621DNAH5n.1178T>G
c.13845T>G (p.Arg4615=)
c.13800T>G (p.Arg4600=)
c.13953T>G (p.Arg4651=)
c.13533T>G (p.Arg4511=)
c.12858T>G (p.Arg4286=)
c.9042T>G (p.Arg3014=)
c.8595T>G (p.Arg2865=)
c.7932T>G (p.Arg2644=)
c.12447T>G (p.Arg4149=)
5g.13692014A>GCA443248622DNAH5n.1178T>C
c.13845T>C (p.Arg4615=)
c.13800T>C (p.Arg4600=)
c.13953T>C (p.Arg4651=)
c.13533T>C (p.Arg4511=)
c.12858T>C (p.Arg4286=)
c.9042T>C (p.Arg3014=)
c.8595T>C (p.Arg2865=)
c.7932T>C (p.Arg2644=)
c.12447T>C (p.Arg4149=)
5g.13692014A>TCA443248623DNAH5n.1178T>A
c.13845T>A (p.Arg4615=)
c.13800T>A (p.Arg4600=)
c.13953T>A (p.Arg4651=)
c.13533T>A (p.Arg4511=)
c.12858T>A (p.Arg4286=)
c.9042T>A (p.Arg3014=)
c.8595T>A (p.Arg2865=)
c.7932T>A (p.Arg2644=)
c.12447T>A (p.Arg4149=)
5g.13692015C>ACA359188537DNAH5n.1177G>T
c.13844G>T (p.Arg4615Leu)
c.13799G>T (p.Arg4600Leu)
c.13952G>T (p.Arg4651Leu)
c.13532G>T (p.Arg4511Leu)
c.12857G>T (p.Arg4286Leu)
c.9041G>T (p.Arg3014Leu)
c.8594G>T (p.Arg2865Leu)
c.7931G>T (p.Arg2644Leu)
c.12446G>T (p.Arg4149Leu)
5g.13692015C=CA1528395844DNAH5n.1177G=
c.13844G= (p.Arg4615=)
c.13799G= (p.Arg4600=)
c.13952G= (p.Arg4651=)
c.13532G= (p.Arg4511=)
c.12857G= (p.Arg4286=)
c.9041G= (p.Arg3014=)
c.8594G= (p.Arg2865=)
c.7931G= (p.Arg2644=)
c.12446G= (p.Arg4149=)
5g.13692015C>GCA359188538DNAH5n.1177G>C
c.13844G>C (p.Arg4615Pro)
c.13799G>C (p.Arg4600Pro)
c.13952G>C (p.Arg4651Pro)
c.13532G>C (p.Arg4511Pro)
c.12857G>C (p.Arg4286Pro)
c.9041G>C (p.Arg3014Pro)
c.8594G>C (p.Arg2865Pro)
c.7931G>C (p.Arg2644Pro)
c.12446G>C (p.Arg4149Pro)
 ClinVar
5g.13692015C>TCA359188539DNAH5n.1177G>A
c.13844G>A (p.Arg4615His)
c.13799G>A (p.Arg4600His)
c.13952G>A (p.Arg4651His)
c.13532G>A (p.Arg4511His)
c.12857G>A (p.Arg4286His)
c.9041G>A (p.Arg3014His)
c.8594G>A (p.Arg2865His)
c.7931G>A (p.Arg2644His)
c.12446G>A (p.Arg4149His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13692016G>ACA3201230DNAH5n.1176C>T
c.13843C>T (p.Arg4615Cys)
c.13798C>T (p.Arg4600Cys)
c.13951C>T (p.Arg4651Cys)
c.13531C>T (p.Arg4511Cys)
c.12856C>T (p.Arg4286Cys)
c.9040C>T (p.Arg3014Cys)
c.8593C>T (p.Arg2865Cys)
c.7930C>T (p.Arg2644Cys)
c.12445C>T (p.Arg4149Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692016G>CCA359188540DNAH5n.1176C>G
c.13843C>G (p.Arg4615Gly)
c.13798C>G (p.Arg4600Gly)
c.13951C>G (p.Arg4651Gly)
c.13531C>G (p.Arg4511Gly)
c.12856C>G (p.Arg4286Gly)
c.9040C>G (p.Arg3014Gly)
c.8593C>G (p.Arg2865Gly)
c.7930C>G (p.Arg2644Gly)
c.12445C>G (p.Arg4149Gly)
5g.13692016G=CA1528395845DNAH5n.1176C=
c.13843C= (p.Arg4615=)
c.13798C= (p.Arg4600=)
c.13951C= (p.Arg4651=)
c.13531C= (p.Arg4511=)
c.12856C= (p.Arg4286=)
c.9040C= (p.Arg3014=)
c.8593C= (p.Arg2865=)
c.7930C= (p.Arg2644=)
c.12445C= (p.Arg4149=)
5g.13692016G>TCA359188541DNAH5n.1176C>A
c.13843C>A (p.Arg4615Ser)
c.13798C>A (p.Arg4600Ser)
c.13951C>A (p.Arg4651Ser)
c.13531C>A (p.Arg4511Ser)
c.12856C>A (p.Arg4286Ser)
c.9040C>A (p.Arg3014Ser)
c.8593C>A (p.Arg2865Ser)
c.7930C>A (p.Arg2644Ser)
c.12445C>A (p.Arg4149Ser)
5g.13692017G>ACA443248625DNAH5n.1175C>T
c.13842C>T (p.Leu4614=)
c.13797C>T (p.Leu4599=)
c.13950C>T (p.Leu4650=)
c.13530C>T (p.Leu4510=)
c.12855C>T (p.Leu4285=)
c.9039C>T (p.Leu3013=)
c.8592C>T (p.Leu2864=)
c.7929C>T (p.Leu2643=)
c.12444C>T (p.Leu4148=)
5g.13692017G>CCA443248627DNAH5n.1175C>G
c.13842C>G (p.Leu4614=)
c.13797C>G (p.Leu4599=)
c.13950C>G (p.Leu4650=)
c.13530C>G (p.Leu4510=)
c.12855C>G (p.Leu4285=)
c.9039C>G (p.Leu3013=)
c.8592C>G (p.Leu2864=)
c.7929C>G (p.Leu2643=)
c.12444C>G (p.Leu4148=)
5g.13692017G>TCA443248629DNAH5n.1175C>A
c.13842C>A (p.Leu4614=)
c.13797C>A (p.Leu4599=)
c.13950C>A (p.Leu4650=)
c.13530C>A (p.Leu4510=)
c.12855C>A (p.Leu4285=)
c.9039C>A (p.Leu3013=)
c.8592C>A (p.Leu2864=)
c.7929C>A (p.Leu2643=)
c.12444C>A (p.Leu4148=)
5g.13692018A>CCA359188542DNAH5n.1174T>G
c.13841T>G (p.Leu4614Arg)
c.13796T>G (p.Leu4599Arg)
c.13949T>G (p.Leu4650Arg)
c.13529T>G (p.Leu4510Arg)
c.12854T>G (p.Leu4285Arg)
c.9038T>G (p.Leu3013Arg)
c.8591T>G (p.Leu2864Arg)
c.7928T>G (p.Leu2643Arg)
c.12443T>G (p.Leu4148Arg)
5g.13692018A>GCA359188543DNAH5n.1174T>C
c.13841T>C (p.Leu4614Pro)
c.13796T>C (p.Leu4599Pro)
c.13949T>C (p.Leu4650Pro)
c.13529T>C (p.Leu4510Pro)
c.12854T>C (p.Leu4285Pro)
c.9038T>C (p.Leu3013Pro)
c.8591T>C (p.Leu2864Pro)
c.7928T>C (p.Leu2643Pro)
c.12443T>C (p.Leu4148Pro)
5g.13692018A>TCA359188544DNAH5n.1174T>A
c.13841T>A (p.Leu4614His)
c.13796T>A (p.Leu4599His)
c.13949T>A (p.Leu4650His)
c.13529T>A (p.Leu4510His)
c.12854T>A (p.Leu4285His)
c.9038T>A (p.Leu3013His)
c.8591T>A (p.Leu2864His)
c.7928T>A (p.Leu2643His)
c.12443T>A (p.Leu4148His)
5g.13692019G>ACA359188547DNAH5n.1173C>T
c.13840C>T (p.Leu4614Phe)
c.13795C>T (p.Leu4599Phe)
c.13948C>T (p.Leu4650Phe)
c.13528C>T (p.Leu4510Phe)
c.12853C>T (p.Leu4285Phe)
c.9037C>T (p.Leu3013Phe)
c.8590C>T (p.Leu2864Phe)
c.7927C>T (p.Leu2643Phe)
c.12442C>T (p.Leu4148Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13692019G>CCA359188546DNAH5n.1173C>G
c.13840C>G (p.Leu4614Val)
c.13795C>G (p.Leu4599Val)
c.13948C>G (p.Leu4650Val)
c.13528C>G (p.Leu4510Val)
c.12853C>G (p.Leu4285Val)
c.9037C>G (p.Leu3013Val)
c.8590C>G (p.Leu2864Val)
c.7927C>G (p.Leu2643Val)
c.12442C>G (p.Leu4148Val)
5g.13692019G=CA1528395846DNAH5n.1173C=
c.13840C= (p.Leu4614=)
c.13795C= (p.Leu4599=)
c.13948C= (p.Leu4650=)
c.13528C= (p.Leu4510=)
c.12853C= (p.Leu4285=)
c.9037C= (p.Leu3013=)
c.8590C= (p.Leu2864=)
c.7927C= (p.Leu2643=)
c.12442C= (p.Leu4148=)
5g.13692019G>TCA359188545DNAH5n.1173C>A
c.13840C>A (p.Leu4614Ile)
c.13795C>A (p.Leu4599Ile)
c.13948C>A (p.Leu4650Ile)
c.13528C>A (p.Leu4510Ile)
c.12853C>A (p.Leu4285Ile)
c.9037C>A (p.Leu3013Ile)
c.8590C>A (p.Leu2864Ile)
c.7927C>A (p.Leu2643Ile)
c.12442C>A (p.Leu4148Ile)
5g.13692020C>ACA443248631DNAH5n.1172G>T
c.13839G>T (p.Val4613=)
c.13794G>T (p.Val4598=)
c.13947G>T (p.Val4649=)
c.13527G>T (p.Val4509=)
c.12852G>T (p.Val4284=)
c.9036G>T (p.Val3012=)
c.8589G>T (p.Val2863=)
c.7926G>T (p.Val2642=)
c.12441G>T (p.Val4147=)
 dbSNP
5g.13692020C=CA1528395847DNAH5n.1172G=
c.13839G= (p.Val4613=)
c.13794G= (p.Val4598=)
c.13947G= (p.Val4649=)
c.13527G= (p.Val4509=)
c.12852G= (p.Val4284=)
c.9036G= (p.Val3012=)
c.8589G= (p.Val2863=)
c.7926G= (p.Val2642=)
c.12441G= (p.Val4147=)
5g.13692020C>GCA443248632DNAH5n.1172G>C
c.13839G>C (p.Val4613=)
c.13794G>C (p.Val4598=)
c.13947G>C (p.Val4649=)
c.13527G>C (p.Val4509=)
c.12852G>C (p.Val4284=)
c.9036G>C (p.Val3012=)
c.8589G>C (p.Val2863=)
c.7926G>C (p.Val2642=)
c.12441G>C (p.Val4147=)
5g.13692020C>TCA443248634DNAH5n.1172G>A
c.13839G>A (p.Val4613=)
c.13794G>A (p.Val4598=)
c.13947G>A (p.Val4649=)
c.13527G>A (p.Val4509=)
c.12852G>A (p.Val4284=)
c.9036G>A (p.Val3012=)
c.8589G>A (p.Val2863=)
c.7926G>A (p.Val2642=)
c.12441G>A (p.Val4147=)
 ClinVar
5g.13692021A>CCA359188548DNAH5n.1171T>G
c.13838T>G (p.Val4613Gly)
c.13793T>G (p.Val4598Gly)
c.13946T>G (p.Val4649Gly)
c.13526T>G (p.Val4509Gly)
c.12851T>G (p.Val4284Gly)
c.9035T>G (p.Val3012Gly)
c.8588T>G (p.Val2863Gly)
c.7925T>G (p.Val2642Gly)
c.12440T>G (p.Val4147Gly)
5g.13692021A>GCA359188550DNAH5n.1171T>C
c.13838T>C (p.Val4613Ala)
c.13793T>C (p.Val4598Ala)
c.13946T>C (p.Val4649Ala)
c.13526T>C (p.Val4509Ala)
c.12851T>C (p.Val4284Ala)
c.9035T>C (p.Val3012Ala)
c.8588T>C (p.Val2863Ala)
c.7925T>C (p.Val2642Ala)
c.12440T>C (p.Val4147Ala)
5g.13692021A>TCA359188549DNAH5n.1171T>A
c.13838T>A (p.Val4613Glu)
c.13793T>A (p.Val4598Glu)
c.13946T>A (p.Val4649Glu)
c.13526T>A (p.Val4509Glu)
c.12851T>A (p.Val4284Glu)
c.9035T>A (p.Val3012Glu)
c.8588T>A (p.Val2863Glu)
c.7925T>A (p.Val2642Glu)
c.12440T>A (p.Val4147Glu)
5g.13692021_13692022delinsACCA1528395848DNAH5n.1170_1171delinsGT
c.13837_13838delinsGT (p.Val4613=)
c.13792_13793delinsGT (p.Val4598=)
c.13945_13946delinsGT (p.Val4649=)
c.13525_13526delinsGT (p.Val4509=)
c.12850_12851delinsGT (p.Val4284=)
c.9034_9035delinsGT (p.Val3012=)
c.8587_8588delinsGT (p.Val2863=)
c.7924_7925delinsGT (p.Val2642=)
c.12439_12440delinsGT (p.Val4147=)
5g.13692022C>ACA359188551DNAH5n.1170G>T
c.13837G>T (p.Val4613Leu)
c.13792G>T (p.Val4598Leu)
c.13945G>T (p.Val4649Leu)
c.13525G>T (p.Val4509Leu)
c.12850G>T (p.Val4284Leu)
c.9034G>T (p.Val3012Leu)
c.8587G>T (p.Val2863Leu)
c.7924G>T (p.Val2642Leu)
c.12439G>T (p.Val4147Leu)
 gnomAD v4
5g.13692022C=CA1528395850DNAH5n.1170G=
c.13837G= (p.Val4613=)
c.13792G= (p.Val4598=)
c.13945G= (p.Val4649=)
c.13525G= (p.Val4509=)
c.12850G= (p.Val4284=)
c.9034G= (p.Val3012=)
c.8587G= (p.Val2863=)
c.7924G= (p.Val2642=)
c.12439G= (p.Val4147=)
5g.13692022C>GCA359188552DNAH5n.1170G>C
c.13837G>C (p.Val4613Leu)
c.13792G>C (p.Val4598Leu)
c.13945G>C (p.Val4649Leu)
c.13525G>C (p.Val4509Leu)
c.12850G>C (p.Val4284Leu)
c.9034G>C (p.Val3012Leu)
c.8587G>C (p.Val2863Leu)
c.7924G>C (p.Val2642Leu)
c.12439G>C (p.Val4147Leu)
5g.13692022C>TCA3201231DNAH5n.1170G>A
c.13837G>A (p.Val4613Met)
c.13792G>A (p.Val4598Met)
c.13945G>A (p.Val4649Met)
c.13525G>A (p.Val4509Met)
c.12850G>A (p.Val4284Met)
c.9034G>A (p.Val3012Met)
c.8587G>A (p.Val2863Met)
c.7924G>A (p.Val2642Met)
c.12439G>A (p.Val4147Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692024dupCA2673266101DNAH5n.1170dup
c.13837dup (p.Val4613GlyfsTer10)
c.13792dup (p.Val4598GlyfsTer10)
c.13945dup (p.Val4649GlyfsTer10)
c.13525dup (p.Val4509GlyfsTer10)
c.12850dup (p.Val4284GlyfsTer10)
c.9034dup (p.Val3012GlyfsTer10)
c.8587dup (p.Val2863GlyfsTer10)
c.7924dup (p.Val2642GlyfsTer10)
c.12439dup (p.Val4147GlyfsTer10)
 gnomAD v4
5g.13692024delCA1528395849DNAH5n.1170del
c.13837del (p.Val4613CysfsTer?)
c.13792del (p.Val4598CysfsTer?)
c.13945del (p.Val4649CysfsTer?)
c.13525del (p.Val4509CysfsTer?)
c.12850del (p.Val4284CysfsTer?)
c.9034del (p.Val3012CysfsTer?)
c.8587del (p.Val2863CysfsTer?)
c.7924del (p.Val2642CysfsTer?)
c.12439del (p.Val4147CysfsTer?)
 dbSNP gnomAD v4
5g.13692023C>ACA359188553DNAH5n.1169G>T
c.13836G>T (p.Trp4612Cys)
c.13791G>T (p.Trp4597Cys)
c.13944G>T (p.Trp4648Cys)
c.13524G>T (p.Trp4508Cys)
c.12849G>T (p.Trp4283Cys)
c.9033G>T (p.Trp3011Cys)
c.8586G>T (p.Trp2862Cys)
c.7923G>T (p.Trp2641Cys)
c.12438G>T (p.Trp4146Cys)
 dbSNP
5g.13692023C>GCA359188554DNAH5n.1169G>C
c.13836G>C (p.Trp4612Cys)
c.13791G>C (p.Trp4597Cys)
c.13944G>C (p.Trp4648Cys)
c.13524G>C (p.Trp4508Cys)
c.12849G>C (p.Trp4283Cys)
c.9033G>C (p.Trp3011Cys)
c.8586G>C (p.Trp2862Cys)
c.7923G>C (p.Trp2641Cys)
c.12438G>C (p.Trp4146Cys)
5g.13692023C>TCA359188555DNAH5n.1169G>A
c.13836G>A (p.Trp4612Ter)
c.13791G>A (p.Trp4597Ter)
c.13944G>A (p.Trp4648Ter)
c.13524G>A (p.Trp4508Ter)
c.12849G>A (p.Trp4283Ter)
c.9033G>A (p.Trp3011Ter)
c.8586G>A (p.Trp2862Ter)
c.7923G>A (p.Trp2641Ter)
c.12438G>A (p.Trp4146Ter)
5g.13692024C>ACA359188556DNAH5n.1168G>T
c.13835G>T (p.Trp4612Leu)
c.13790G>T (p.Trp4597Leu)
c.13943G>T (p.Trp4648Leu)
c.13523G>T (p.Trp4508Leu)
c.12848G>T (p.Trp4283Leu)
c.9032G>T (p.Trp3011Leu)
c.8585G>T (p.Trp2862Leu)
c.7922G>T (p.Trp2641Leu)
c.12437G>T (p.Trp4146Leu)
5g.13692024C>GCA359188557DNAH5n.1168G>C
c.13835G>C (p.Trp4612Ser)
c.13790G>C (p.Trp4597Ser)
c.13943G>C (p.Trp4648Ser)
c.13523G>C (p.Trp4508Ser)
c.12848G>C (p.Trp4283Ser)
c.9032G>C (p.Trp3011Ser)
c.8585G>C (p.Trp2862Ser)
c.7922G>C (p.Trp2641Ser)
c.12437G>C (p.Trp4146Ser)
5g.13692024C>TCA359188558DNAH5n.1168G>A
c.13835G>A (p.Trp4612Ter)
c.13790G>A (p.Trp4597Ter)
c.13943G>A (p.Trp4648Ter)
c.13523G>A (p.Trp4508Ter)
c.12848G>A (p.Trp4283Ter)
c.9032G>A (p.Trp3011Ter)
c.8585G>A (p.Trp2862Ter)
c.7922G>A (p.Trp2641Ter)
c.12437G>A (p.Trp4146Ter)
 gnomAD v4
5g.13692025A>CCA359188559DNAH5n.1167T>G
c.13834T>G (p.Trp4612Gly)
c.13789T>G (p.Trp4597Gly)
c.13942T>G (p.Trp4648Gly)
c.13522T>G (p.Trp4508Gly)
c.12847T>G (p.Trp4283Gly)
c.9031T>G (p.Trp3011Gly)
c.8584T>G (p.Trp2862Gly)
c.7921T>G (p.Trp2641Gly)
c.12436T>G (p.Trp4146Gly)
5g.13692025A>GCA359188560DNAH5n.1167T>C
c.13834T>C (p.Trp4612Arg)
c.13789T>C (p.Trp4597Arg)
c.13942T>C (p.Trp4648Arg)
c.13522T>C (p.Trp4508Arg)
c.12847T>C (p.Trp4283Arg)
c.9031T>C (p.Trp3011Arg)
c.8584T>C (p.Trp2862Arg)
c.7921T>C (p.Trp2641Arg)
c.12436T>C (p.Trp4146Arg)
5g.13692025A>TCA359188561DNAH5n.1167T>A
c.13834T>A (p.Trp4612Arg)
c.13789T>A (p.Trp4597Arg)
c.13942T>A (p.Trp4648Arg)
c.13522T>A (p.Trp4508Arg)
c.12847T>A (p.Trp4283Arg)
c.9031T>A (p.Trp3011Arg)
c.8584T>A (p.Trp2862Arg)
c.7921T>A (p.Trp2641Arg)
c.12436T>A (p.Trp4146Arg)
5g.13692026G>ACA443248639DNAH5n.1166C>T
c.13833C>T (p.His4611=)
c.13788C>T (p.His4596=)
c.13941C>T (p.His4647=)
c.13521C>T (p.His4507=)
c.12846C>T (p.His4282=)
c.9030C>T (p.His3010=)
c.8583C>T (p.His2861=)
c.7920C>T (p.His2640=)
c.12435C>T (p.His4145=)
 gnomAD v4
5g.13692026G>CCA359188562DNAH5n.1166C>G
c.13833C>G (p.His4611Gln)
c.13788C>G (p.His4596Gln)
c.13941C>G (p.His4647Gln)
c.13521C>G (p.His4507Gln)
c.12846C>G (p.His4282Gln)
c.9030C>G (p.His3010Gln)
c.8583C>G (p.His2861Gln)
c.7920C>G (p.His2640Gln)
c.12435C>G (p.His4145Gln)
 gnomAD v4
5g.13692026G>TCA359188563DNAH5n.1166C>A
c.13833C>A (p.His4611Gln)
c.13788C>A (p.His4596Gln)
c.13941C>A (p.His4647Gln)
c.13521C>A (p.His4507Gln)
c.12846C>A (p.His4282Gln)
c.9030C>A (p.His3010Gln)
c.8583C>A (p.His2861Gln)
c.7920C>A (p.His2640Gln)
c.12435C>A (p.His4145Gln)
5g.13692027T>ACA359188566DNAH5n.1165A>T
c.13832A>T (p.His4611Leu)
c.13787A>T (p.His4596Leu)
c.13940A>T (p.His4647Leu)
c.13520A>T (p.His4507Leu)
c.12845A>T (p.His4282Leu)
c.9029A>T (p.His3010Leu)
c.8582A>T (p.His2861Leu)
c.7919A>T (p.His2640Leu)
c.12434A>T (p.His4145Leu)
5g.13692027T>CCA359188564DNAH5n.1165A>G
c.13832A>G (p.His4611Arg)
c.13787A>G (p.His4596Arg)
c.13940A>G (p.His4647Arg)
c.13520A>G (p.His4507Arg)
c.12845A>G (p.His4282Arg)
c.9029A>G (p.His3010Arg)
c.8582A>G (p.His2861Arg)
c.7919A>G (p.His2640Arg)
c.12434A>G (p.His4145Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692027T>GCA359188565DNAH5n.1165A>C
c.13832A>C (p.His4611Pro)
c.13787A>C (p.His4596Pro)
c.13940A>C (p.His4647Pro)
c.13520A>C (p.His4507Pro)
c.12845A>C (p.His4282Pro)
c.9029A>C (p.His3010Pro)
c.8582A>C (p.His2861Pro)
c.7919A>C (p.His2640Pro)
c.12434A>C (p.His4145Pro)
5g.13692027T=CA1528395851DNAH5n.1165A=
c.13832A= (p.His4611=)
c.13787A= (p.His4596=)
c.13940A= (p.His4647=)
c.13520A= (p.His4507=)
c.12845A= (p.His4282=)
c.9029A= (p.His3010=)
c.8582A= (p.His2861=)
c.7919A= (p.His2640=)
c.12434A= (p.His4145=)
5g.13692028G>ACA359188567DNAH5n.1164C>T
c.13831C>T (p.His4611Tyr)
c.13786C>T (p.His4596Tyr)
c.13939C>T (p.His4647Tyr)
c.13519C>T (p.His4507Tyr)
c.12844C>T (p.His4282Tyr)
c.9028C>T (p.His3010Tyr)
c.8581C>T (p.His2861Tyr)
c.7918C>T (p.His2640Tyr)
c.12433C>T (p.His4145Tyr)
5g.13692028G>CCA359188568DNAH5n.1164C>G
c.13831C>G (p.His4611Asp)
c.13786C>G (p.His4596Asp)
c.13939C>G (p.His4647Asp)
c.13519C>G (p.His4507Asp)
c.12844C>G (p.His4282Asp)
c.9028C>G (p.His3010Asp)
c.8581C>G (p.His2861Asp)
c.7918C>G (p.His2640Asp)
c.12433C>G (p.His4145Asp)
 gnomAD v4
5g.13692028G>TCA359188569DNAH5n.1164C>A
c.13831C>A (p.His4611Asn)
c.13786C>A (p.His4596Asn)
c.13939C>A (p.His4647Asn)
c.13519C>A (p.His4507Asn)
c.12844C>A (p.His4282Asn)
c.9028C>A (p.His3010Asn)
c.8581C>A (p.His2861Asn)
c.7918C>A (p.His2640Asn)
c.12433C>A (p.His4145Asn)
5g.13692029T>ACA359188570DNAH5n.1163A>T
c.13830A>T (p.Glu4610Asp)
c.13785A>T (p.Glu4595Asp)
c.13938A>T (p.Glu4646Asp)
c.13518A>T (p.Glu4506Asp)
c.12843A>T (p.Glu4281Asp)
c.9027A>T (p.Glu3009Asp)
c.8580A>T (p.Glu2860Asp)
c.7917A>T (p.Glu2639Asp)
c.12432A>T (p.Glu4144Asp)
5g.13692029T>CCA443248642DNAH5n.1163A>G
c.13830A>G (p.Glu4610=)
c.13785A>G (p.Glu4595=)
c.13938A>G (p.Glu4646=)
c.13518A>G (p.Glu4506=)
c.12843A>G (p.Glu4281=)
c.9027A>G (p.Glu3009=)
c.8580A>G (p.Glu2860=)
c.7917A>G (p.Glu2639=)
c.12432A>G (p.Glu4144=)
 gnomAD v4
5g.13692029T>GCA359188571DNAH5n.1163A>C
c.13830A>C (p.Glu4610Asp)
c.13785A>C (p.Glu4595Asp)
c.13938A>C (p.Glu4646Asp)
c.13518A>C (p.Glu4506Asp)
c.12843A>C (p.Glu4281Asp)
c.9027A>C (p.Glu3009Asp)
c.8580A>C (p.Glu2860Asp)
c.7917A>C (p.Glu2639Asp)
c.12432A>C (p.Glu4144Asp)
5g.13692030T>ACA359188572DNAH5n.1162A>T
c.13829A>T (p.Glu4610Val)
c.13784A>T (p.Glu4595Val)
c.13937A>T (p.Glu4646Val)
c.13517A>T (p.Glu4506Val)
c.12842A>T (p.Glu4281Val)
c.9026A>T (p.Glu3009Val)
c.8579A>T (p.Glu2860Val)
c.7916A>T (p.Glu2639Val)
c.12431A>T (p.Glu4144Val)
5g.13692030T>CCA359188573DNAH5n.1162A>G
c.13829A>G (p.Glu4610Gly)
c.13784A>G (p.Glu4595Gly)
c.13937A>G (p.Glu4646Gly)
c.13517A>G (p.Glu4506Gly)
c.12842A>G (p.Glu4281Gly)
c.9026A>G (p.Glu3009Gly)
c.8579A>G (p.Glu2860Gly)
c.7916A>G (p.Glu2639Gly)
c.12431A>G (p.Glu4144Gly)
5g.13692030T>GCA359188574DNAH5n.1162A>C
c.13829A>C (p.Glu4610Ala)
c.13784A>C (p.Glu4595Ala)
c.13937A>C (p.Glu4646Ala)
c.13517A>C (p.Glu4506Ala)
c.12842A>C (p.Glu4281Ala)
c.9026A>C (p.Glu3009Ala)
c.8579A>C (p.Glu2860Ala)
c.7916A>C (p.Glu2639Ala)
c.12431A>C (p.Glu4144Ala)
5g.13692031_13692039delCA2673266102DNAH5n.1154_1162del
c.13821_13829del (p.Thr4608_Glu4610del)
c.13776_13784del (p.Thr4593_Glu4595del)
c.13929_13937del (p.Thr4644_Glu4646del)
c.13509_13517del (p.Thr4504_Glu4506del)
c.12834_12842del (p.Thr4279_Glu4281del)
c.9018_9026del (p.Thr3007_Glu3009del)
c.8571_8579del (p.Thr2858_Glu2860del)
c.7908_7916del (p.Thr2637_Glu2639del)
c.12423_12431del (p.Thr4142_Glu4144del)
 gnomAD v4
5g.13692031C>ACA359188575DNAH5n.1161G>T
c.13828G>T (p.Glu4610Ter)
c.13783G>T (p.Glu4595Ter)
c.13936G>T (p.Glu4646Ter)
c.13516G>T (p.Glu4506Ter)
c.12841G>T (p.Glu4281Ter)
c.9025G>T (p.Glu3009Ter)
c.8578G>T (p.Glu2860Ter)
c.7915G>T (p.Glu2639Ter)
c.12430G>T (p.Glu4144Ter)
5g.13692031C>GCA359188576DNAH5n.1161G>C
c.13828G>C (p.Glu4610Gln)
c.13783G>C (p.Glu4595Gln)
c.13936G>C (p.Glu4646Gln)
c.13516G>C (p.Glu4506Gln)
c.12841G>C (p.Glu4281Gln)
c.9025G>C (p.Glu3009Gln)
c.8578G>C (p.Glu2860Gln)
c.7915G>C (p.Glu2639Gln)
c.12430G>C (p.Glu4144Gln)
 gnomAD v4
5g.13692031C>TCA359188577DNAH5n.1161G>A
c.13828G>A (p.Glu4610Lys)
c.13783G>A (p.Glu4595Lys)
c.13936G>A (p.Glu4646Lys)
c.13516G>A (p.Glu4506Lys)
c.12841G>A (p.Glu4281Lys)
c.9025G>A (p.Glu3009Lys)
c.8578G>A (p.Glu2860Lys)
c.7915G>A (p.Glu2639Lys)
c.12430G>A (p.Glu4144Lys)
5g.13692032A=CA1528395852DNAH5n.1160T=
c.13827T= (p.Pro4609=)
c.13782T= (p.Pro4594=)
c.13935T= (p.Pro4645=)
c.13515T= (p.Pro4505=)
c.12840T= (p.Pro4280=)
c.9024T= (p.Pro3008=)
c.8577T= (p.Pro2859=)
c.7914T= (p.Pro2638=)
c.12429T= (p.Pro4143=)
5g.13692032A>CCA443248645DNAH5n.1160T>G
c.13827T>G (p.Pro4609=)
c.13782T>G (p.Pro4594=)
c.13935T>G (p.Pro4645=)
c.13515T>G (p.Pro4505=)
c.12840T>G (p.Pro4280=)
c.9024T>G (p.Pro3008=)
c.8577T>G (p.Pro2859=)
c.7914T>G (p.Pro2638=)
c.12429T>G (p.Pro4143=)
5g.13692032A>GCA3201232DNAH5n.1160T>C
c.13827T>C (p.Pro4609=)
c.13782T>C (p.Pro4594=)
c.13935T>C (p.Pro4645=)
c.13515T>C (p.Pro4505=)
c.12840T>C (p.Pro4280=)
c.9024T>C (p.Pro3008=)
c.8577T>C (p.Pro2859=)
c.7914T>C (p.Pro2638=)
c.12429T>C (p.Pro4143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692032A>TCA443248647DNAH5n.1160T>A
c.13827T>A (p.Pro4609=)
c.13782T>A (p.Pro4594=)
c.13935T>A (p.Pro4645=)
c.13515T>A (p.Pro4505=)
c.12840T>A (p.Pro4280=)
c.9024T>A (p.Pro3008=)
c.8577T>A (p.Pro2859=)
c.7914T>A (p.Pro2638=)
c.12429T>A (p.Pro4143=)
5g.13692033G>ACA359188580DNAH5n.1159C>T
c.13826C>T (p.Pro4609Leu)
c.13781C>T (p.Pro4594Leu)
c.13934C>T (p.Pro4645Leu)
c.13514C>T (p.Pro4505Leu)
c.12839C>T (p.Pro4280Leu)
c.9023C>T (p.Pro3008Leu)
c.8576C>T (p.Pro2859Leu)
c.7913C>T (p.Pro2638Leu)
c.12428C>T (p.Pro4143Leu)
5g.13692033G>CCA359188578DNAH5n.1159C>G
c.13826C>G (p.Pro4609Arg)
c.13781C>G (p.Pro4594Arg)
c.13934C>G (p.Pro4645Arg)
c.13514C>G (p.Pro4505Arg)
c.12839C>G (p.Pro4280Arg)
c.9023C>G (p.Pro3008Arg)
c.8576C>G (p.Pro2859Arg)
c.7913C>G (p.Pro2638Arg)
c.12428C>G (p.Pro4143Arg)
5g.13692033G>TCA359188579DNAH5n.1159C>A
c.13826C>A (p.Pro4609His)
c.13781C>A (p.Pro4594His)
c.13934C>A (p.Pro4645His)
c.13514C>A (p.Pro4505His)
c.12839C>A (p.Pro4280His)
c.9023C>A (p.Pro3008His)
c.8576C>A (p.Pro2859His)
c.7913C>A (p.Pro2638His)
c.12428C>A (p.Pro4143His)
5g.13692034G>ACA359188581DNAH5n.1158C>T
c.13825C>T (p.Pro4609Ser)
c.13780C>T (p.Pro4594Ser)
c.13933C>T (p.Pro4645Ser)
c.13513C>T (p.Pro4505Ser)
c.12838C>T (p.Pro4280Ser)
c.9022C>T (p.Pro3008Ser)
c.8575C>T (p.Pro2859Ser)
c.7912C>T (p.Pro2638Ser)
c.12427C>T (p.Pro4143Ser)
5g.13692034G>CCA359188582DNAH5n.1158C>G
c.13825C>G (p.Pro4609Ala)
c.13780C>G (p.Pro4594Ala)
c.13933C>G (p.Pro4645Ala)
c.13513C>G (p.Pro4505Ala)
c.12838C>G (p.Pro4280Ala)
c.9022C>G (p.Pro3008Ala)
c.8575C>G (p.Pro2859Ala)
c.7912C>G (p.Pro2638Ala)
c.12427C>G (p.Pro4143Ala)
 ClinVar
5g.13692034G=CA1528395853DNAH5n.1158C=
c.13825C= (p.Pro4609=)
c.13780C= (p.Pro4594=)
c.13933C= (p.Pro4645=)
c.13513C= (p.Pro4505=)
c.12838C= (p.Pro4280=)
c.9022C= (p.Pro3008=)
c.8575C= (p.Pro2859=)
c.7912C= (p.Pro2638=)
c.12427C= (p.Pro4143=)
5g.13692034G>TCA10622671DNAH5n.1158C>A
c.13825C>A (p.Pro4609Thr)
c.13780C>A (p.Pro4594Thr)
c.13933C>A (p.Pro4645Thr)
c.13513C>A (p.Pro4505Thr)
c.12838C>A (p.Pro4280Thr)
c.9022C>A (p.Pro3008Thr)
c.8575C>A (p.Pro2859Thr)
c.7912C>A (p.Pro2638Thr)
c.12427C>A (p.Pro4143Thr)
 ClinVar dbSNP
5g.13692035G>ACA443248652DNAH5n.1157C>T
c.13824C>T (p.Thr4608=)
c.13779C>T (p.Thr4593=)
c.13932C>T (p.Thr4644=)
c.13512C>T (p.Thr4504=)
c.12837C>T (p.Thr4279=)
c.9021C>T (p.Thr3007=)
c.8574C>T (p.Thr2858=)
c.7911C>T (p.Thr2637=)
c.12426C>T (p.Thr4142=)
 gnomAD v4
5g.13692035G>CCA443248653DNAH5n.1157C>G
c.13824C>G (p.Thr4608=)
c.13779C>G (p.Thr4593=)
c.13932C>G (p.Thr4644=)
c.13512C>G (p.Thr4504=)
c.12837C>G (p.Thr4279=)
c.9021C>G (p.Thr3007=)
c.8574C>G (p.Thr2858=)
c.7911C>G (p.Thr2637=)
c.12426C>G (p.Thr4142=)
 gnomAD v4
5g.13692035G>TCA443248654DNAH5n.1157C>A
c.13824C>A (p.Thr4608=)
c.13779C>A (p.Thr4593=)
c.13932C>A (p.Thr4644=)
c.13512C>A (p.Thr4504=)
c.12837C>A (p.Thr4279=)
c.9021C>A (p.Thr3007=)
c.8574C>A (p.Thr2858=)
c.7911C>A (p.Thr2637=)
c.12426C>A (p.Thr4142=)
5g.13692036G>ACA359188583DNAH5n.1156C>T
c.13823C>T (p.Thr4608Ile)
c.13778C>T (p.Thr4593Ile)
c.13931C>T (p.Thr4644Ile)
c.13511C>T (p.Thr4504Ile)
c.12836C>T (p.Thr4279Ile)
c.9020C>T (p.Thr3007Ile)
c.8573C>T (p.Thr2858Ile)
c.7910C>T (p.Thr2637Ile)
c.12425C>T (p.Thr4142Ile)
 gnomAD v4
5g.13692036G>CCA359188584DNAH5n.1156C>G
c.13823C>G (p.Thr4608Ser)
c.13778C>G (p.Thr4593Ser)
c.13931C>G (p.Thr4644Ser)
c.13511C>G (p.Thr4504Ser)
c.12836C>G (p.Thr4279Ser)
c.9020C>G (p.Thr3007Ser)
c.8573C>G (p.Thr2858Ser)
c.7910C>G (p.Thr2637Ser)
c.12425C>G (p.Thr4142Ser)
 dbSNP gnomAD v4
5g.13692036G=CA1528395854DNAH5n.1156C=
c.13823C= (p.Thr4608=)
c.13778C= (p.Thr4593=)
c.13931C= (p.Thr4644=)
c.13511C= (p.Thr4504=)
c.12836C= (p.Thr4279=)
c.9020C= (p.Thr3007=)
c.8573C= (p.Thr2858=)
c.7910C= (p.Thr2637=)
c.12425C= (p.Thr4142=)
5g.13692036G>TCA359188585DNAH5n.1156C>A
c.13823C>A (p.Thr4608Asn)
c.13778C>A (p.Thr4593Asn)
c.13931C>A (p.Thr4644Asn)
c.13511C>A (p.Thr4504Asn)
c.12836C>A (p.Thr4279Asn)
c.9020C>A (p.Thr3007Asn)
c.8573C>A (p.Thr2858Asn)
c.7910C>A (p.Thr2637Asn)
c.12425C>A (p.Thr4142Asn)
5g.13692037T>ACA359188586DNAH5n.1155A>T
c.13822A>T (p.Thr4608Ser)
c.13777A>T (p.Thr4593Ser)
c.13930A>T (p.Thr4644Ser)
c.13510A>T (p.Thr4504Ser)
c.12835A>T (p.Thr4279Ser)
c.9019A>T (p.Thr3007Ser)
c.8572A>T (p.Thr2858Ser)
c.7909A>T (p.Thr2637Ser)
c.12424A>T (p.Thr4142Ser)
5g.13692037T>CCA359188587DNAH5n.1155A>G
c.13822A>G (p.Thr4608Ala)
c.13777A>G (p.Thr4593Ala)
c.13930A>G (p.Thr4644Ala)
c.13510A>G (p.Thr4504Ala)
c.12835A>G (p.Thr4279Ala)
c.9019A>G (p.Thr3007Ala)
c.8572A>G (p.Thr2858Ala)
c.7909A>G (p.Thr2637Ala)
c.12424A>G (p.Thr4142Ala)
5g.13692037T>GCA359188588DNAH5n.1155A>C
c.13822A>C (p.Thr4608Pro)
c.13777A>C (p.Thr4593Pro)
c.13930A>C (p.Thr4644Pro)
c.13510A>C (p.Thr4504Pro)
c.12835A>C (p.Thr4279Pro)
c.9019A>C (p.Thr3007Pro)
c.8572A>C (p.Thr2858Pro)
c.7909A>C (p.Thr2637Pro)
c.12424A>C (p.Thr4142Pro)
5g.13692038C>ACA359188589DNAH5n.1154G>T
c.13821G>T (p.Gln4607His)
c.13776G>T (p.Gln4592His)
c.13929G>T (p.Gln4643His)
c.13509G>T (p.Gln4503His)
c.12834G>T (p.Gln4278His)
c.9018G>T (p.Gln3006His)
c.8571G>T (p.Gln2857His)
c.7908G>T (p.Gln2636His)
c.12423G>T (p.Gln4141His)
 gnomAD v4
5g.13692038C>GCA359188590DNAH5n.1154G>C
c.13821G>C (p.Gln4607His)
c.13776G>C (p.Gln4592His)
c.13929G>C (p.Gln4643His)
c.13509G>C (p.Gln4503His)
c.12834G>C (p.Gln4278His)
c.9018G>C (p.Gln3006His)
c.8571G>C (p.Gln2857His)
c.7908G>C (p.Gln2636His)
c.12423G>C (p.Gln4141His)
5g.13692038C>TCA443248660DNAH5n.1154G>A
c.13821G>A (p.Gln4607=)
c.13776G>A (p.Gln4592=)
c.13929G>A (p.Gln4643=)
c.13509G>A (p.Gln4503=)
c.12834G>A (p.Gln4278=)
c.9018G>A (p.Gln3006=)
c.8571G>A (p.Gln2857=)
c.7908G>A (p.Gln2636=)
c.12423G>A (p.Gln4141=)
5g.13692039T>ACA359188591DNAH5n.1153A>T
c.13820A>T (p.Gln4607Leu)
c.13775A>T (p.Gln4592Leu)
c.13928A>T (p.Gln4643Leu)
c.13508A>T (p.Gln4503Leu)
c.12833A>T (p.Gln4278Leu)
c.9017A>T (p.Gln3006Leu)
c.8570A>T (p.Gln2857Leu)
c.7907A>T (p.Gln2636Leu)
c.12422A>T (p.Gln4141Leu)
5g.13692039T>CCA359188593DNAH5n.1153A>G
c.13820A>G (p.Gln4607Arg)
c.13775A>G (p.Gln4592Arg)
c.13928A>G (p.Gln4643Arg)
c.13508A>G (p.Gln4503Arg)
c.12833A>G (p.Gln4278Arg)
c.9017A>G (p.Gln3006Arg)
c.8570A>G (p.Gln2857Arg)
c.7907A>G (p.Gln2636Arg)
c.12422A>G (p.Gln4141Arg)
5g.13692039T>GCA359188592DNAH5n.1153A>C
c.13820A>C (p.Gln4607Pro)
c.13775A>C (p.Gln4592Pro)
c.13928A>C (p.Gln4643Pro)
c.13508A>C (p.Gln4503Pro)
c.12833A>C (p.Gln4278Pro)
c.9017A>C (p.Gln3006Pro)
c.8570A>C (p.Gln2857Pro)
c.7907A>C (p.Gln2636Pro)
c.12422A>C (p.Gln4141Pro)
5g.13692040G>ACA359188594DNAH5n.1152C>T
c.13819C>T (p.Gln4607Ter)
c.13774C>T (p.Gln4592Ter)
c.13927C>T (p.Gln4643Ter)
c.13507C>T (p.Gln4503Ter)
c.12832C>T (p.Gln4278Ter)
c.9016C>T (p.Gln3006Ter)
c.8569C>T (p.Gln2857Ter)
c.7906C>T (p.Gln2636Ter)
c.12421C>T (p.Gln4141Ter)
5g.13692040G>CCA359188595DNAH5n.1152C>G
c.13819C>G (p.Gln4607Glu)
c.13774C>G (p.Gln4592Glu)
c.13927C>G (p.Gln4643Glu)
c.13507C>G (p.Gln4503Glu)
c.12832C>G (p.Gln4278Glu)
c.9016C>G (p.Gln3006Glu)
c.8569C>G (p.Gln2857Glu)
c.7906C>G (p.Gln2636Glu)
c.12421C>G (p.Gln4141Glu)
5g.13692040G>TCA359188596DNAH5n.1152C>A
c.13819C>A (p.Gln4607Lys)
c.13774C>A (p.Gln4592Lys)
c.13927C>A (p.Gln4643Lys)
c.13507C>A (p.Gln4503Lys)
c.12832C>A (p.Gln4278Lys)
c.9016C>A (p.Gln3006Lys)
c.8569C>A (p.Gln2857Lys)
c.7906C>A (p.Gln2636Lys)
c.12421C>A (p.Gln4141Lys)
5g.13692041G>ACA443248661DNAH5n.1151C>T
c.13818C>T (p.Ala4606=)
c.13773C>T (p.Ala4591=)
c.13926C>T (p.Ala4642=)
c.13506C>T (p.Ala4502=)
c.12831C>T (p.Ala4277=)
c.9015C>T (p.Ala3005=)
c.8568C>T (p.Ala2856=)
c.7905C>T (p.Ala2635=)
c.12420C>T (p.Ala4140=)
5g.13692041G>CCA443248663DNAH5n.1151C>G
c.13818C>G (p.Ala4606=)
c.13773C>G (p.Ala4591=)
c.13926C>G (p.Ala4642=)
c.13506C>G (p.Ala4502=)
c.12831C>G (p.Ala4277=)
c.9015C>G (p.Ala3005=)
c.8568C>G (p.Ala2856=)
c.7905C>G (p.Ala2635=)
c.12420C>G (p.Ala4140=)
5g.13692041G>TCA443248664DNAH5n.1151C>A
c.13818C>A (p.Ala4606=)
c.13773C>A (p.Ala4591=)
c.13926C>A (p.Ala4642=)
c.13506C>A (p.Ala4502=)
c.12831C>A (p.Ala4277=)
c.9015C>A (p.Ala3005=)
c.8568C>A (p.Ala2856=)
c.7905C>A (p.Ala2635=)
c.12420C>A (p.Ala4140=)
5g.13692042G>ACA3201234DNAH5n.1150C>T
c.13817C>T (p.Ala4606Val)
c.13772C>T (p.Ala4591Val)
c.13925C>T (p.Ala4642Val)
c.13505C>T (p.Ala4502Val)
c.12830C>T (p.Ala4277Val)
c.9014C>T (p.Ala3005Val)
c.8567C>T (p.Ala2856Val)
c.7904C>T (p.Ala2635Val)
c.12419C>T (p.Ala4140Val)
 dbSNP ExAC gnomAD v2
5g.13692042G>CCA359188597DNAH5n.1150C>G
c.13817C>G (p.Ala4606Gly)
c.13772C>G (p.Ala4591Gly)
c.13925C>G (p.Ala4642Gly)
c.13505C>G (p.Ala4502Gly)
c.12830C>G (p.Ala4277Gly)
c.9014C>G (p.Ala3005Gly)
c.8567C>G (p.Ala2856Gly)
c.7904C>G (p.Ala2635Gly)
c.12419C>G (p.Ala4140Gly)
5g.13692042G=CA1528395855DNAH5n.1150C=
c.13817C= (p.Ala4606=)
c.13772C= (p.Ala4591=)
c.13925C= (p.Ala4642=)
c.13505C= (p.Ala4502=)
c.12830C= (p.Ala4277=)
c.9014C= (p.Ala3005=)
c.8567C= (p.Ala2856=)
c.7904C= (p.Ala2635=)
c.12419C= (p.Ala4140=)
5g.13692042G>TCA3201233DNAH5n.1150C>A
c.13817C>A (p.Ala4606Asp)
c.13772C>A (p.Ala4591Asp)
c.13925C>A (p.Ala4642Asp)
c.13505C>A (p.Ala4502Asp)
c.12830C>A (p.Ala4277Asp)
c.9014C>A (p.Ala3005Asp)
c.8567C>A (p.Ala2856Asp)
c.7904C>A (p.Ala2635Asp)
c.12419C>A (p.Ala4140Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692043C>ACA359188598DNAH5n.1149G>T
c.13816G>T (p.Ala4606Ser)
c.13771G>T (p.Ala4591Ser)
c.13924G>T (p.Ala4642Ser)
c.13504G>T (p.Ala4502Ser)
c.12829G>T (p.Ala4277Ser)
c.9013G>T (p.Ala3005Ser)
c.8566G>T (p.Ala2856Ser)
c.7903G>T (p.Ala2635Ser)
c.12418G>T (p.Ala4140Ser)
 gnomAD v4
5g.13692043C>GCA359188599DNAH5n.1149G>C
c.13816G>C (p.Ala4606Pro)
c.13771G>C (p.Ala4591Pro)
c.13924G>C (p.Ala4642Pro)
c.13504G>C (p.Ala4502Pro)
c.12829G>C (p.Ala4277Pro)
c.9013G>C (p.Ala3005Pro)
c.8566G>C (p.Ala2856Pro)
c.7903G>C (p.Ala2635Pro)
c.12418G>C (p.Ala4140Pro)
 gnomAD v4
5g.13692043C>TCA359188600DNAH5n.1149G>A
c.13816G>A (p.Ala4606Thr)
c.13771G>A (p.Ala4591Thr)
c.13924G>A (p.Ala4642Thr)
c.13504G>A (p.Ala4502Thr)
c.12829G>A (p.Ala4277Thr)
c.9013G>A (p.Ala3005Thr)
c.8566G>A (p.Ala2856Thr)
c.7903G>A (p.Ala2635Thr)
c.12418G>A (p.Ala4140Thr)
5g.13692044T>ACA443248667DNAH5n.1148A>T
c.13815A>T (p.Thr4605=)
c.13770A>T (p.Thr4590=)
c.13923A>T (p.Thr4641=)
c.13503A>T (p.Thr4501=)
c.12828A>T (p.Thr4276=)
c.9012A>T (p.Thr3004=)
c.8565A>T (p.Thr2855=)
c.7902A>T (p.Thr2634=)
c.12417A>T (p.Thr4139=)
5g.13692044T>CCA443248668DNAH5n.1148A>G
c.13815A>G (p.Thr4605=)
c.13770A>G (p.Thr4590=)
c.13923A>G (p.Thr4641=)
c.13503A>G (p.Thr4501=)
c.12828A>G (p.Thr4276=)
c.9012A>G (p.Thr3004=)
c.8565A>G (p.Thr2855=)
c.7902A>G (p.Thr2634=)
c.12417A>G (p.Thr4139=)
5g.13692044T>GCA113905456DNAH5n.1148A>C
c.13815A>C (p.Thr4605=)
c.13770A>C (p.Thr4590=)
c.13923A>C (p.Thr4641=)
c.13503A>C (p.Thr4501=)
c.12828A>C (p.Thr4276=)
c.9012A>C (p.Thr3004=)
c.8565A>C (p.Thr2855=)
c.7902A>C (p.Thr2634=)
c.12417A>C (p.Thr4139=)
 dbSNP
5g.13692044T=CA1528395856DNAH5n.1148A=
c.13815A= (p.Thr4605=)
c.13770A= (p.Thr4590=)
c.13923A= (p.Thr4641=)
c.13503A= (p.Thr4501=)
c.12828A= (p.Thr4276=)
c.9012A= (p.Thr3004=)
c.8565A= (p.Thr2855=)
c.7902A= (p.Thr2634=)
c.12417A= (p.Thr4139=)
5g.13692045G>ACA359188602DNAH5n.1147C>T
c.13814C>T (p.Thr4605Ile)
c.13769C>T (p.Thr4590Ile)
c.13922C>T (p.Thr4641Ile)
c.13502C>T (p.Thr4501Ile)
c.12827C>T (p.Thr4276Ile)
c.9011C>T (p.Thr3004Ile)
c.8564C>T (p.Thr2855Ile)
c.7901C>T (p.Thr2634Ile)
c.12416C>T (p.Thr4139Ile)
5g.13692045G>CCA359188603DNAH5n.1147C>G
c.13814C>G (p.Thr4605Arg)
c.13769C>G (p.Thr4590Arg)
c.13922C>G (p.Thr4641Arg)
c.13502C>G (p.Thr4501Arg)
c.12827C>G (p.Thr4276Arg)
c.9011C>G (p.Thr3004Arg)
c.8564C>G (p.Thr2855Arg)
c.7901C>G (p.Thr2634Arg)
c.12416C>G (p.Thr4139Arg)
5g.13692045G>TCA359188601DNAH5n.1147C>A
c.13814C>A (p.Thr4605Lys)
c.13769C>A (p.Thr4590Lys)
c.13922C>A (p.Thr4641Lys)
c.13502C>A (p.Thr4501Lys)
c.12827C>A (p.Thr4276Lys)
c.9011C>A (p.Thr3004Lys)
c.8564C>A (p.Thr2855Lys)
c.7901C>A (p.Thr2634Lys)
c.12416C>A (p.Thr4139Lys)
5g.13692046T>ACA359188606DNAH5n.1146A>T
c.13813A>T (p.Thr4605Ser)
c.13768A>T (p.Thr4590Ser)
c.13921A>T (p.Thr4641Ser)
c.13501A>T (p.Thr4501Ser)
c.12826A>T (p.Thr4276Ser)
c.9010A>T (p.Thr3004Ser)
c.8563A>T (p.Thr2855Ser)
c.7900A>T (p.Thr2634Ser)
c.12415A>T (p.Thr4139Ser)
5g.13692046T>CCA359188604DNAH5n.1146A>G
c.13813A>G (p.Thr4605Ala)
c.13768A>G (p.Thr4590Ala)
c.13921A>G (p.Thr4641Ala)
c.13501A>G (p.Thr4501Ala)
c.12826A>G (p.Thr4276Ala)
c.9010A>G (p.Thr3004Ala)
c.8563A>G (p.Thr2855Ala)
c.7900A>G (p.Thr2634Ala)
c.12415A>G (p.Thr4139Ala)
 COSMIC
5g.13692046T>GCA359188605DNAH5n.1146A>C
c.13813A>C (p.Thr4605Pro)
c.13768A>C (p.Thr4590Pro)
c.13921A>C (p.Thr4641Pro)
c.13501A>C (p.Thr4501Pro)
c.12826A>C (p.Thr4276Pro)
c.9010A>C (p.Thr3004Pro)
c.8563A>C (p.Thr2855Pro)
c.7900A>C (p.Thr2634Pro)
c.12415A>C (p.Thr4139Pro)
5g.13692047C>ACA359188607DNAH5n.1145G>T
c.13812G>T (p.Arg4604Ser)
c.13767G>T (p.Arg4589Ser)
c.13920G>T (p.Arg4640Ser)
c.13500G>T (p.Arg4500Ser)
c.12825G>T (p.Arg4275Ser)
c.9009G>T (p.Arg3003Ser)
c.8562G>T (p.Arg2854Ser)
c.7899G>T (p.Arg2633Ser)
c.12414G>T (p.Arg4138Ser)
 dbSNP
5g.13692047C=CA1528395857DNAH5n.1145G=
c.13812G= (p.Arg4604=)
c.13767G= (p.Arg4589=)
c.13920G= (p.Arg4640=)
c.13500G= (p.Arg4500=)
c.12825G= (p.Arg4275=)
c.9009G= (p.Arg3003=)
c.8562G= (p.Arg2854=)
c.7899G= (p.Arg2633=)
c.12414G= (p.Arg4138=)
5g.13692047C>GCA359188608DNAH5n.1145G>C
c.13812G>C (p.Arg4604Ser)
c.13767G>C (p.Arg4589Ser)
c.13920G>C (p.Arg4640Ser)
c.13500G>C (p.Arg4500Ser)
c.12825G>C (p.Arg4275Ser)
c.9009G>C (p.Arg3003Ser)
c.8562G>C (p.Arg2854Ser)
c.7899G>C (p.Arg2633Ser)
c.12414G>C (p.Arg4138Ser)
5g.13692047C>TCA443248672DNAH5n.1145G>A
c.13812G>A (p.Arg4604=)
c.13767G>A (p.Arg4589=)
c.13920G>A (p.Arg4640=)
c.13500G>A (p.Arg4500=)
c.12825G>A (p.Arg4275=)
c.9009G>A (p.Arg3003=)
c.8562G>A (p.Arg2854=)
c.7899G>A (p.Arg2633=)
c.12414G>A (p.Arg4138=)
 gnomAD v4
5g.13692048C>ACA359188609DNAH5n.1144G>T
c.13811G>T (p.Arg4604Met)
c.13766G>T (p.Arg4589Met)
c.13919G>T (p.Arg4640Met)
c.13499G>T (p.Arg4500Met)
c.12824G>T (p.Arg4275Met)
c.9008G>T (p.Arg3003Met)
c.8561G>T (p.Arg2854Met)
c.7898G>T (p.Arg2633Met)
c.12413G>T (p.Arg4138Met)
5g.13692048C>GCA359188610DNAH5n.1144G>C
c.13811G>C (p.Arg4604Thr)
c.13766G>C (p.Arg4589Thr)
c.13919G>C (p.Arg4640Thr)
c.13499G>C (p.Arg4500Thr)
c.12824G>C (p.Arg4275Thr)
c.9008G>C (p.Arg3003Thr)
c.8561G>C (p.Arg2854Thr)
c.7898G>C (p.Arg2633Thr)
c.12413G>C (p.Arg4138Thr)
5g.13692048C>TCA359188611DNAH5n.1144G>A
c.13811G>A (p.Arg4604Lys)
c.13766G>A (p.Arg4589Lys)
c.13919G>A (p.Arg4640Lys)
c.13499G>A (p.Arg4500Lys)
c.12824G>A (p.Arg4275Lys)
c.9008G>A (p.Arg3003Lys)
c.8561G>A (p.Arg2854Lys)
c.7898G>A (p.Arg2633Lys)
c.12413G>A (p.Arg4138Lys)
 gnomAD v4
5g.13692049T>ACA359188612DNAH5n.1143A>T
c.13810A>T (p.Arg4604Trp)
c.13765A>T (p.Arg4589Trp)
c.13918A>T (p.Arg4640Trp)
c.13498A>T (p.Arg4500Trp)
c.12823A>T (p.Arg4275Trp)
c.9007A>T (p.Arg3003Trp)
c.8560A>T (p.Arg2854Trp)
c.7897A>T (p.Arg2633Trp)
c.12412A>T (p.Arg4138Trp)
5g.13692049T>CCA359188613DNAH5n.1143A>G
c.13810A>G (p.Arg4604Gly)
c.13765A>G (p.Arg4589Gly)
c.13918A>G (p.Arg4640Gly)
c.13498A>G (p.Arg4500Gly)
c.12823A>G (p.Arg4275Gly)
c.9007A>G (p.Arg3003Gly)
c.8560A>G (p.Arg2854Gly)
c.7897A>G (p.Arg2633Gly)
c.12412A>G (p.Arg4138Gly)
5g.13692049T>GCA443248679DNAH5n.1143A>C
c.13810A>C (p.Arg4604=)
c.13765A>C (p.Arg4589=)
c.13918A>C (p.Arg4640=)
c.13498A>C (p.Arg4500=)
c.12823A>C (p.Arg4275=)
c.9007A>C (p.Arg3003=)
c.8560A>C (p.Arg2854=)
c.7897A>C (p.Arg2633=)
c.12412A>C (p.Arg4138=)
5g.13692050G>ACA113905458DNAH5n.1142C>T
c.13809C>T (p.Leu4603=)
c.13764C>T (p.Leu4588=)
c.13917C>T (p.Leu4639=)
c.13497C>T (p.Leu4499=)
c.12822C>T (p.Leu4274=)
c.9006C>T (p.Leu3002=)
c.8559C>T (p.Leu2853=)
c.7896C>T (p.Leu2632=)
c.12411C>T (p.Leu4137=)
 dbSNP
5g.13692050G>CCA443248680DNAH5n.1142C>G
c.13809C>G (p.Leu4603=)
c.13764C>G (p.Leu4588=)
c.13917C>G (p.Leu4639=)
c.13497C>G (p.Leu4499=)
c.12822C>G (p.Leu4274=)
c.9006C>G (p.Leu3002=)
c.8559C>G (p.Leu2853=)
c.7896C>G (p.Leu2632=)
c.12411C>G (p.Leu4137=)
5g.13692050G=CA1528395858DNAH5n.1142C=
c.13809C= (p.Leu4603=)
c.13764C= (p.Leu4588=)
c.13917C= (p.Leu4639=)
c.13497C= (p.Leu4499=)
c.12822C= (p.Leu4274=)
c.9006C= (p.Leu3002=)
c.8559C= (p.Leu2853=)
c.7896C= (p.Leu2632=)
c.12411C= (p.Leu4137=)
5g.13692050G>TCA443248681DNAH5n.1142C>A
c.13809C>A (p.Leu4603=)
c.13764C>A (p.Leu4588=)
c.13917C>A (p.Leu4639=)
c.13497C>A (p.Leu4499=)
c.12822C>A (p.Leu4274=)
c.9006C>A (p.Leu3002=)
c.8559C>A (p.Leu2853=)
c.7896C>A (p.Leu2632=)
c.12411C>A (p.Leu4137=)
5g.13692051A>CCA359188614DNAH5n.1141T>G
c.13808T>G (p.Leu4603Arg)
c.13763T>G (p.Leu4588Arg)
c.13916T>G (p.Leu4639Arg)
c.13496T>G (p.Leu4499Arg)
c.12821T>G (p.Leu4274Arg)
c.9005T>G (p.Leu3002Arg)
c.8558T>G (p.Leu2853Arg)
c.7895T>G (p.Leu2632Arg)
c.12410T>G (p.Leu4137Arg)
 gnomAD v4
5g.13692051A>GCA359188615DNAH5n.1141T>C
c.13808T>C (p.Leu4603Pro)
c.13763T>C (p.Leu4588Pro)
c.13916T>C (p.Leu4639Pro)
c.13496T>C (p.Leu4499Pro)
c.12821T>C (p.Leu4274Pro)
c.9005T>C (p.Leu3002Pro)
c.8558T>C (p.Leu2853Pro)
c.7895T>C (p.Leu2632Pro)
c.12410T>C (p.Leu4137Pro)
5g.13692051A>TCA359188616DNAH5n.1141T>A
c.13808T>A (p.Leu4603His)
c.13763T>A (p.Leu4588His)
c.13916T>A (p.Leu4639His)
c.13496T>A (p.Leu4499His)
c.12821T>A (p.Leu4274His)
c.9005T>A (p.Leu3002His)
c.8558T>A (p.Leu2853His)
c.7895T>A (p.Leu2632His)
c.12410T>A (p.Leu4137His)
5g.13692052G>ACA3201235DNAH5n.1140C>T
c.13807C>T (p.Leu4603Phe)
c.13762C>T (p.Leu4588Phe)
c.13915C>T (p.Leu4639Phe)
c.13495C>T (p.Leu4499Phe)
c.12820C>T (p.Leu4274Phe)
c.9004C>T (p.Leu3002Phe)
c.8557C>T (p.Leu2853Phe)
c.7894C>T (p.Leu2632Phe)
c.12409C>T (p.Leu4137Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692052G>CCA359188618DNAH5n.1140C>G
c.13807C>G (p.Leu4603Val)
c.13762C>G (p.Leu4588Val)
c.13915C>G (p.Leu4639Val)
c.13495C>G (p.Leu4499Val)
c.12820C>G (p.Leu4274Val)
c.9004C>G (p.Leu3002Val)
c.8557C>G (p.Leu2853Val)
c.7894C>G (p.Leu2632Val)
c.12409C>G (p.Leu4137Val)
5g.13692052G=CA1528395859DNAH5n.1140C=
c.13807C= (p.Leu4603=)
c.13762C= (p.Leu4588=)
c.13915C= (p.Leu4639=)
c.13495C= (p.Leu4499=)
c.12820C= (p.Leu4274=)
c.9004C= (p.Leu3002=)
c.8557C= (p.Leu2853=)
c.7894C= (p.Leu2632=)
c.12409C= (p.Leu4137=)
5g.13692052G>TCA359188617DNAH5n.1140C>A
c.13807C>A (p.Leu4603Ile)
c.13762C>A (p.Leu4588Ile)
c.13915C>A (p.Leu4639Ile)
c.13495C>A (p.Leu4499Ile)
c.12820C>A (p.Leu4274Ile)
c.9004C>A (p.Leu3002Ile)
c.8557C>A (p.Leu2853Ile)
c.7894C>A (p.Leu2632Ile)
c.12409C>A (p.Leu4137Ile)
5g.13692053A=CA1528395860DNAH5n.1139T=
c.13806T= (p.Asp4602=)
c.13761T= (p.Asp4587=)
c.13914T= (p.Asp4638=)
c.13494T= (p.Asp4498=)
c.12819T= (p.Asp4273=)
c.9003T= (p.Asp3001=)
c.8556T= (p.Asp2852=)
c.7893T= (p.Asp2631=)
c.12408T= (p.Asp4136=)
5g.13692053A>CCA359188619DNAH5n.1139T>G
c.13806T>G (p.Asp4602Glu)
c.13761T>G (p.Asp4587Glu)
c.13914T>G (p.Asp4638Glu)
c.13494T>G (p.Asp4498Glu)
c.12819T>G (p.Asp4273Glu)
c.9003T>G (p.Asp3001Glu)
c.8556T>G (p.Asp2852Glu)
c.7893T>G (p.Asp2631Glu)
c.12408T>G (p.Asp4136Glu)
5g.13692053A>GCA443248684DNAH5n.1139T>C
c.13806T>C (p.Asp4602=)
c.13761T>C (p.Asp4587=)
c.13914T>C (p.Asp4638=)
c.13494T>C (p.Asp4498=)
c.12819T>C (p.Asp4273=)
c.9003T>C (p.Asp3001=)
c.8556T>C (p.Asp2852=)
c.7893T>C (p.Asp2631=)
c.12408T>C (p.Asp4136=)
 dbSNP gnomAD v2 gnomAD v4
5g.13692053A>TCA359188620DNAH5n.1139T>A
c.13806T>A (p.Asp4602Glu)
c.13761T>A (p.Asp4587Glu)
c.13914T>A (p.Asp4638Glu)
c.13494T>A (p.Asp4498Glu)
c.12819T>A (p.Asp4273Glu)
c.9003T>A (p.Asp3001Glu)
c.8556T>A (p.Asp2852Glu)
c.7893T>A (p.Asp2631Glu)
c.12408T>A (p.Asp4136Glu)
5g.13692054T>ACA359188621DNAH5n.1138A>T
c.13805A>T (p.Asp4602Val)
c.13760A>T (p.Asp4587Val)
c.13913A>T (p.Asp4638Val)
c.13493A>T (p.Asp4498Val)
c.12818A>T (p.Asp4273Val)
c.9002A>T (p.Asp3001Val)
c.8555A>T (p.Asp2852Val)
c.7892A>T (p.Asp2631Val)
c.12407A>T (p.Asp4136Val)
5g.13692054T>CCA359188622DNAH5n.1138A>G
c.13805A>G (p.Asp4602Gly)
c.13760A>G (p.Asp4587Gly)
c.13913A>G (p.Asp4638Gly)
c.13493A>G (p.Asp4498Gly)
c.12818A>G (p.Asp4273Gly)
c.9002A>G (p.Asp3001Gly)
c.8555A>G (p.Asp2852Gly)
c.7892A>G (p.Asp2631Gly)
c.12407A>G (p.Asp4136Gly)
5g.13692054T>GCA359188623DNAH5n.1138A>C
c.13805A>C (p.Asp4602Ala)
c.13760A>C (p.Asp4587Ala)
c.13913A>C (p.Asp4638Ala)
c.13493A>C (p.Asp4498Ala)
c.12818A>C (p.Asp4273Ala)
c.9002A>C (p.Asp3001Ala)
c.8555A>C (p.Asp2852Ala)
c.7892A>C (p.Asp2631Ala)
c.12407A>C (p.Asp4136Ala)
5g.13692055C>ACA359188624DNAH5n.1137G>T
c.13804G>T (p.Asp4602Tyr)
c.13759G>T (p.Asp4587Tyr)
c.13912G>T (p.Asp4638Tyr)
c.13492G>T (p.Asp4498Tyr)
c.12817G>T (p.Asp4273Tyr)
c.9001G>T (p.Asp3001Tyr)
c.8554G>T (p.Asp2852Tyr)
c.7891G>T (p.Asp2631Tyr)
c.12406G>T (p.Asp4136Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692055C=CA1528395861DNAH5n.1137G=
c.13804G= (p.Asp4602=)
c.13759G= (p.Asp4587=)
c.13912G= (p.Asp4638=)
c.13492G= (p.Asp4498=)
c.12817G= (p.Asp4273=)
c.9001G= (p.Asp3001=)
c.8554G= (p.Asp2852=)
c.7891G= (p.Asp2631=)
c.12406G= (p.Asp4136=)
5g.13692055C>GCA359188625DNAH5n.1137G>C
c.13804G>C (p.Asp4602His)
c.13759G>C (p.Asp4587His)
c.13912G>C (p.Asp4638His)
c.13492G>C (p.Asp4498His)
c.12817G>C (p.Asp4273His)
c.9001G>C (p.Asp3001His)
c.8554G>C (p.Asp2852His)
c.7891G>C (p.Asp2631His)
c.12406G>C (p.Asp4136His)
5g.13692055C>TCA3201236DNAH5n.1137G>A
c.13804G>A (p.Asp4602Asn)
c.13759G>A (p.Asp4587Asn)
c.13912G>A (p.Asp4638Asn)
c.13492G>A (p.Asp4498Asn)
c.12817G>A (p.Asp4273Asn)
c.9001G>A (p.Asp3001Asn)
c.8554G>A (p.Asp2852Asn)
c.7891G>A (p.Asp2631Asn)
c.12406G>A (p.Asp4136Asn)
 dbSNP ExAC gnomAD v2
5g.13692056C>ACA443248713DNAH5n.1136G>T
c.13803G>T (p.Val4601=)
c.13758G>T (p.Val4586=)
c.13911G>T (p.Val4637=)
c.13491G>T (p.Val4497=)
c.12816G>T (p.Val4272=)
c.9000G>T (p.Val3000=)
c.8553G>T (p.Val2851=)
c.7890G>T (p.Val2630=)
c.12405G>T (p.Val4135=)
5g.13692056C>GCA443248714DNAH5n.1136G>C
c.13803G>C (p.Val4601=)
c.13758G>C (p.Val4586=)
c.13911G>C (p.Val4637=)
c.13491G>C (p.Val4497=)
c.12816G>C (p.Val4272=)
c.9000G>C (p.Val3000=)
c.8553G>C (p.Val2851=)
c.7890G>C (p.Val2630=)
c.12405G>C (p.Val4135=)
5g.13692056C>TCA443248715DNAH5n.1136G>A
c.13803G>A (p.Val4601=)
c.13758G>A (p.Val4586=)
c.13911G>A (p.Val4637=)
c.13491G>A (p.Val4497=)
c.12816G>A (p.Val4272=)
c.9000G>A (p.Val3000=)
c.8553G>A (p.Val2851=)
c.7890G>A (p.Val2630=)
c.12405G>A (p.Val4135=)
5g.13692057A=CA1528395862DNAH5n.1135T=
c.13802T= (p.Val4601=)
c.13757T= (p.Val4586=)
c.13910T= (p.Val4637=)
c.13490T= (p.Val4497=)
c.12815T= (p.Val4272=)
c.8999T= (p.Val3000=)
c.8552T= (p.Val2851=)
c.7889T= (p.Val2630=)
c.12404T= (p.Val4135=)
5g.13692057A>CCA359188626DNAH5n.1135T>G
c.13802T>G (p.Val4601Gly)
c.13757T>G (p.Val4586Gly)
c.13910T>G (p.Val4637Gly)
c.13490T>G (p.Val4497Gly)
c.12815T>G (p.Val4272Gly)
c.8999T>G (p.Val3000Gly)
c.8552T>G (p.Val2851Gly)
c.7889T>G (p.Val2630Gly)
c.12404T>G (p.Val4135Gly)
5g.13692057A>GCA359188627DNAH5n.1135T>C
c.13802T>C (p.Val4601Ala)
c.13757T>C (p.Val4586Ala)
c.13910T>C (p.Val4637Ala)
c.13490T>C (p.Val4497Ala)
c.12815T>C (p.Val4272Ala)
c.8999T>C (p.Val3000Ala)
c.8552T>C (p.Val2851Ala)
c.7889T>C (p.Val2630Ala)
c.12404T>C (p.Val4135Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692057A>TCA359188628DNAH5n.1135T>A
c.13802T>A (p.Val4601Glu)
c.13757T>A (p.Val4586Glu)
c.13910T>A (p.Val4637Glu)
c.13490T>A (p.Val4497Glu)
c.12815T>A (p.Val4272Glu)
c.8999T>A (p.Val3000Glu)
c.8552T>A (p.Val2851Glu)
c.7889T>A (p.Val2630Glu)
c.12404T>A (p.Val4135Glu)
5g.13692058C>ACA359188630DNAH5n.1134G>T
c.13801G>T (p.Val4601Leu)
c.13756G>T (p.Val4586Leu)
c.13909G>T (p.Val4637Leu)
c.13489G>T (p.Val4497Leu)
c.12814G>T (p.Val4272Leu)
c.8998G>T (p.Val3000Leu)
c.8551G>T (p.Val2851Leu)
c.7888G>T (p.Val2630Leu)
c.12403G>T (p.Val4135Leu)
5g.13692058C>GCA359188631DNAH5n.1134G>C
c.13801G>C (p.Val4601Leu)
c.13756G>C (p.Val4586Leu)
c.13909G>C (p.Val4637Leu)
c.13489G>C (p.Val4497Leu)
c.12814G>C (p.Val4272Leu)
c.8998G>C (p.Val3000Leu)
c.8551G>C (p.Val2851Leu)
c.7888G>C (p.Val2630Leu)
c.12403G>C (p.Val4135Leu)
5g.13692058C>TCA359188629DNAH5n.1134G>A
c.13801G>A (p.Val4601Met)
c.13756G>A (p.Val4586Met)
c.13909G>A (p.Val4637Met)
c.13489G>A (p.Val4497Met)
c.12814G>A (p.Val4272Met)
c.8998G>A (p.Val3000Met)
c.8551G>A (p.Val2851Met)
c.7888G>A (p.Val2630Met)
c.12403G>A (p.Val4135Met)
5g.13692059A>CCA443248719DNAH5n.1133T>G
c.13800T>G (p.Ala4600=)
c.13755T>G (p.Ala4585=)
c.13908T>G (p.Ala4636=)
c.13488T>G (p.Ala4496=)
c.12813T>G (p.Ala4271=)
c.8997T>G (p.Ala2999=)
c.8550T>G (p.Ala2850=)
c.7887T>G (p.Ala2629=)
c.12402T>G (p.Ala4134=)
5g.13692059A>GCA443248720DNAH5n.1133T>C
c.13800T>C (p.Ala4600=)
c.13755T>C (p.Ala4585=)
c.13908T>C (p.Ala4636=)
c.13488T>C (p.Ala4496=)
c.12813T>C (p.Ala4271=)
c.8997T>C (p.Ala2999=)
c.8550T>C (p.Ala2850=)
c.7887T>C (p.Ala2629=)
c.12402T>C (p.Ala4134=)
5g.13692059A>TCA443248721DNAH5n.1133T>A
c.13800T>A (p.Ala4600=)
c.13755T>A (p.Ala4585=)
c.13908T>A (p.Ala4636=)
c.13488T>A (p.Ala4496=)
c.12813T>A (p.Ala4271=)
c.8997T>A (p.Ala2999=)
c.8550T>A (p.Ala2850=)
c.7887T>A (p.Ala2629=)
c.12402T>A (p.Ala4134=)
5g.13692060G>ACA359188632DNAH5n.1132C>T
c.13799C>T (p.Ala4600Val)
c.13754C>T (p.Ala4585Val)
c.13907C>T (p.Ala4636Val)
c.13487C>T (p.Ala4496Val)
c.12812C>T (p.Ala4271Val)
c.8996C>T (p.Ala2999Val)
c.8549C>T (p.Ala2850Val)
c.7886C>T (p.Ala2629Val)
c.12401C>T (p.Ala4134Val)
5g.13692060G>CCA359188633DNAH5n.1132C>G
c.13799C>G (p.Ala4600Gly)
c.13754C>G (p.Ala4585Gly)
c.13907C>G (p.Ala4636Gly)
c.13487C>G (p.Ala4496Gly)
c.12812C>G (p.Ala4271Gly)
c.8996C>G (p.Ala2999Gly)
c.8549C>G (p.Ala2850Gly)
c.7886C>G (p.Ala2629Gly)
c.12401C>G (p.Ala4134Gly)
5g.13692060G>TCA359188634DNAH5n.1132C>A
c.13799C>A (p.Ala4600Asp)
c.13754C>A (p.Ala4585Asp)
c.13907C>A (p.Ala4636Asp)
c.13487C>A (p.Ala4496Asp)
c.12812C>A (p.Ala4271Asp)
c.8996C>A (p.Ala2999Asp)
c.8549C>A (p.Ala2850Asp)
c.7886C>A (p.Ala2629Asp)
c.12401C>A (p.Ala4134Asp)
5g.13692061C>ACA3201238DNAH5n.1131G>T
c.13798G>T (p.Ala4600Ser)
c.13753G>T (p.Ala4585Ser)
c.13906G>T (p.Ala4636Ser)
c.13486G>T (p.Ala4496Ser)
c.12811G>T (p.Ala4271Ser)
c.8995G>T (p.Ala2999Ser)
c.8548G>T (p.Ala2850Ser)
c.7885G>T (p.Ala2629Ser)
c.12400G>T (p.Ala4134Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692061C=CA1528395863DNAH5n.1131G=
c.13798G= (p.Ala4600=)
c.13753G= (p.Ala4585=)
c.13906G= (p.Ala4636=)
c.13486G= (p.Ala4496=)
c.12811G= (p.Ala4271=)
c.8995G= (p.Ala2999=)
c.8548G= (p.Ala2850=)
c.7885G= (p.Ala2629=)
c.12400G= (p.Ala4134=)
5g.13692061C>GCA359188635DNAH5n.1131G>C
c.13798G>C (p.Ala4600Pro)
c.13753G>C (p.Ala4585Pro)
c.13906G>C (p.Ala4636Pro)
c.13486G>C (p.Ala4496Pro)
c.12811G>C (p.Ala4271Pro)
c.8995G>C (p.Ala2999Pro)
c.8548G>C (p.Ala2850Pro)
c.7885G>C (p.Ala2629Pro)
c.12400G>C (p.Ala4134Pro)
5g.13692061C>TCA3201237DNAH5n.1131G>A
c.13798G>A (p.Ala4600Thr)
c.13753G>A (p.Ala4585Thr)
c.13906G>A (p.Ala4636Thr)
c.13486G>A (p.Ala4496Thr)
c.12811G>A (p.Ala4271Thr)
c.8995G>A (p.Ala2999Thr)
c.8548G>A (p.Ala2850Thr)
c.7885G>A (p.Ala2629Thr)
c.12400G>A (p.Ala4134Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692062G>ACA3201239DNAH5n.1130C>T
c.13797C>T (p.Ala4599=)
c.13752C>T (p.Ala4584=)
c.13905C>T (p.Ala4635=)
c.13485C>T (p.Ala4495=)
c.12810C>T (p.Ala4270=)
c.8994C>T (p.Ala2998=)
c.8547C>T (p.Ala2849=)
c.7884C>T (p.Ala2628=)
c.12399C>T (p.Ala4133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692062G>CCA443248723DNAH5n.1130C>G
c.13797C>G (p.Ala4599=)
c.13752C>G (p.Ala4584=)
c.13905C>G (p.Ala4635=)
c.13485C>G (p.Ala4495=)
c.12810C>G (p.Ala4270=)
c.8994C>G (p.Ala2998=)
c.8547C>G (p.Ala2849=)
c.7884C>G (p.Ala2628=)
c.12399C>G (p.Ala4133=)
5g.13692062G=CA1528395864DNAH5n.1130C=
c.13797C= (p.Ala4599=)
c.13752C= (p.Ala4584=)
c.13905C= (p.Ala4635=)
c.13485C= (p.Ala4495=)
c.12810C= (p.Ala4270=)
c.8994C= (p.Ala2998=)
c.8547C= (p.Ala2849=)
c.7884C= (p.Ala2628=)
c.12399C= (p.Ala4133=)
5g.13692062G>TCA443248724DNAH5n.1130C>A
c.13797C>A (p.Ala4599=)
c.13752C>A (p.Ala4584=)
c.13905C>A (p.Ala4635=)
c.13485C>A (p.Ala4495=)
c.12810C>A (p.Ala4270=)
c.8994C>A (p.Ala2998=)
c.8547C>A (p.Ala2849=)
c.7884C>A (p.Ala2628=)
c.12399C>A (p.Ala4133=)
5g.13692063G>ACA359188636DNAH5n.1129C>T
c.13796C>T (p.Ala4599Val)
c.13751C>T (p.Ala4584Val)
c.13904C>T (p.Ala4635Val)
c.13484C>T (p.Ala4495Val)
c.12809C>T (p.Ala4270Val)
c.8993C>T (p.Ala2998Val)
c.8546C>T (p.Ala2849Val)
c.7883C>T (p.Ala2628Val)
c.12398C>T (p.Ala4133Val)
 dbSNP gnomAD v4
5g.13692063G>CCA359188638DNAH5n.1129C>G
c.13796C>G (p.Ala4599Gly)
c.13751C>G (p.Ala4584Gly)
c.13904C>G (p.Ala4635Gly)
c.13484C>G (p.Ala4495Gly)
c.12809C>G (p.Ala4270Gly)
c.8993C>G (p.Ala2998Gly)
c.8546C>G (p.Ala2849Gly)
c.7883C>G (p.Ala2628Gly)
c.12398C>G (p.Ala4133Gly)
5g.13692063G=CA1528395865DNAH5n.1129C=
c.13796C= (p.Ala4599=)
c.13751C= (p.Ala4584=)
c.13904C= (p.Ala4635=)
c.13484C= (p.Ala4495=)
c.12809C= (p.Ala4270=)
c.8993C= (p.Ala2998=)
c.8546C= (p.Ala2849=)
c.7883C= (p.Ala2628=)
c.12398C= (p.Ala4133=)
5g.13692063G>TCA359188637DNAH5n.1129C>A
c.13796C>A (p.Ala4599Asp)
c.13751C>A (p.Ala4584Asp)
c.13904C>A (p.Ala4635Asp)
c.13484C>A (p.Ala4495Asp)
c.12809C>A (p.Ala4270Asp)
c.8993C>A (p.Ala2998Asp)
c.8546C>A (p.Ala2849Asp)
c.7883C>A (p.Ala2628Asp)
c.12398C>A (p.Ala4133Asp)
5g.13692064C>ACA359188639DNAH5n.1128G>T
c.13795G>T (p.Ala4599Ser)
c.13750G>T (p.Ala4584Ser)
c.13903G>T (p.Ala4635Ser)
c.13483G>T (p.Ala4495Ser)
c.12808G>T (p.Ala4270Ser)
c.8992G>T (p.Ala2998Ser)
c.8545G>T (p.Ala2849Ser)
c.7882G>T (p.Ala2628Ser)
c.12397G>T (p.Ala4133Ser)
5g.13692064C>GCA359188640DNAH5n.1128G>C
c.13795G>C (p.Ala4599Pro)
c.13750G>C (p.Ala4584Pro)
c.13903G>C (p.Ala4635Pro)
c.13483G>C (p.Ala4495Pro)
c.12808G>C (p.Ala4270Pro)
c.8992G>C (p.Ala2998Pro)
c.8545G>C (p.Ala2849Pro)
c.7882G>C (p.Ala2628Pro)
c.12397G>C (p.Ala4133Pro)
5g.13692064C>TCA359188641DNAH5n.1128G>A
c.13795G>A (p.Ala4599Thr)
c.13750G>A (p.Ala4584Thr)
c.13903G>A (p.Ala4635Thr)
c.13483G>A (p.Ala4495Thr)
c.12808G>A (p.Ala4270Thr)
c.8992G>A (p.Ala2998Thr)
c.8545G>A (p.Ala2849Thr)
c.7882G>A (p.Ala2628Thr)
c.12397G>A (p.Ala4133Thr)
5g.13692065A>CCA359188642DNAH5n.1127T>G
c.13794T>G (p.Ile4598Met)
c.13749T>G (p.Ile4583Met)
c.13902T>G (p.Ile4634Met)
c.13482T>G (p.Ile4494Met)
c.12807T>G (p.Ile4269Met)
c.8991T>G (p.Ile2997Met)
c.8544T>G (p.Ile2848Met)
c.7881T>G (p.Ile2627Met)
c.12396T>G (p.Ile4132Met)
5g.13692065A>GCA443248726DNAH5n.1127T>C
c.13794T>C (p.Ile4598=)
c.13749T>C (p.Ile4583=)
c.13902T>C (p.Ile4634=)
c.13482T>C (p.Ile4494=)
c.12807T>C (p.Ile4269=)
c.8991T>C (p.Ile2997=)
c.8544T>C (p.Ile2848=)
c.7881T>C (p.Ile2627=)
c.12396T>C (p.Ile4132=)
 gnomAD v4
5g.13692065A>TCA443248728DNAH5n.1127T>A
c.13794T>A (p.Ile4598=)
c.13749T>A (p.Ile4583=)
c.13902T>A (p.Ile4634=)
c.13482T>A (p.Ile4494=)
c.12807T>A (p.Ile4269=)
c.8991T>A (p.Ile2997=)
c.8544T>A (p.Ile2848=)
c.7881T>A (p.Ile2627=)
c.12396T>A (p.Ile4132=)
5g.13692066A>CCA359188643DNAH5n.1126T>G
c.13793T>G (p.Ile4598Ser)
c.13748T>G (p.Ile4583Ser)
c.13901T>G (p.Ile4634Ser)
c.13481T>G (p.Ile4494Ser)
c.12806T>G (p.Ile4269Ser)
c.8990T>G (p.Ile2997Ser)
c.8543T>G (p.Ile2848Ser)
c.7880T>G (p.Ile2627Ser)
c.12395T>G (p.Ile4132Ser)
5g.13692066A>GCA359188645DNAH5n.1126T>C
c.13793T>C (p.Ile4598Thr)
c.13748T>C (p.Ile4583Thr)
c.13901T>C (p.Ile4634Thr)
c.13481T>C (p.Ile4494Thr)
c.12806T>C (p.Ile4269Thr)
c.8990T>C (p.Ile2997Thr)
c.8543T>C (p.Ile2848Thr)
c.7880T>C (p.Ile2627Thr)
c.12395T>C (p.Ile4132Thr)
5g.13692066A>TCA359188644DNAH5n.1126T>A
c.13793T>A (p.Ile4598Asn)
c.13748T>A (p.Ile4583Asn)
c.13901T>A (p.Ile4634Asn)
c.13481T>A (p.Ile4494Asn)
c.12806T>A (p.Ile4269Asn)
c.8990T>A (p.Ile2997Asn)
c.8543T>A (p.Ile2848Asn)
c.7880T>A (p.Ile2627Asn)
c.12395T>A (p.Ile4132Asn)
5g.13692067T>ACA359188646DNAH5n.1125A>T
c.13792A>T (p.Ile4598Phe)
c.13747A>T (p.Ile4583Phe)
c.13900A>T (p.Ile4634Phe)
c.13480A>T (p.Ile4494Phe)
c.12805A>T (p.Ile4269Phe)
c.8989A>T (p.Ile2997Phe)
c.8542A>T (p.Ile2848Phe)
c.7879A>T (p.Ile2627Phe)
c.12394A>T (p.Ile4132Phe)
 dbSNP
5g.13692067T>CCA3201240DNAH5n.1125A>G
c.13792A>G (p.Ile4598Val)
c.13747A>G (p.Ile4583Val)
c.13900A>G (p.Ile4634Val)
c.13480A>G (p.Ile4494Val)
c.12805A>G (p.Ile4269Val)
c.8989A>G (p.Ile2997Val)
c.8542A>G (p.Ile2848Val)
c.7879A>G (p.Ile2627Val)
c.12394A>G (p.Ile4132Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692067T>GCA359188647DNAH5n.1125A>C
c.13792A>C (p.Ile4598Leu)
c.13747A>C (p.Ile4583Leu)
c.13900A>C (p.Ile4634Leu)
c.13480A>C (p.Ile4494Leu)
c.12805A>C (p.Ile4269Leu)
c.8989A>C (p.Ile2997Leu)
c.8542A>C (p.Ile2848Leu)
c.7879A>C (p.Ile2627Leu)
c.12394A>C (p.Ile4132Leu)
5g.13692067T=CA1528395866DNAH5n.1125A=
c.13792A= (p.Ile4598=)
c.13747A= (p.Ile4583=)
c.13900A= (p.Ile4634=)
c.13480A= (p.Ile4494=)
c.12805A= (p.Ile4269=)
c.8989A= (p.Ile2997=)
c.8542A= (p.Ile2848=)
c.7879A= (p.Ile2627=)
c.12394A= (p.Ile4132=)
5g.13692068G>ACA443248731DNAH5n.1124C>T
c.13791C>T (p.Tyr4597=)
c.13746C>T (p.Tyr4582=)
c.13899C>T (p.Tyr4633=)
c.13479C>T (p.Tyr4493=)
c.12804C>T (p.Tyr4268=)
c.8988C>T (p.Tyr2996=)
c.8541C>T (p.Tyr2847=)
c.7878C>T (p.Tyr2626=)
c.12393C>T (p.Tyr4131=)
 ClinVar dbSNP
5g.13692068G>CCA359188648DNAH5n.1124C>G
c.13791C>G (p.Tyr4597Ter)
c.13746C>G (p.Tyr4582Ter)
c.13899C>G (p.Tyr4633Ter)
c.13479C>G (p.Tyr4493Ter)
c.12804C>G (p.Tyr4268Ter)
c.8988C>G (p.Tyr2996Ter)
c.8541C>G (p.Tyr2847Ter)
c.7878C>G (p.Tyr2626Ter)
c.12393C>G (p.Tyr4131Ter)
5g.13692068G=CA1528395867DNAH5n.1124C=
c.13791C= (p.Tyr4597=)
c.13746C= (p.Tyr4582=)
c.13899C= (p.Tyr4633=)
c.13479C= (p.Tyr4493=)
c.12804C= (p.Tyr4268=)
c.8988C= (p.Tyr2996=)
c.8541C= (p.Tyr2847=)
c.7878C= (p.Tyr2626=)
c.12393C= (p.Tyr4131=)
5g.13692068G>TCA359188649DNAH5n.1124C>A
c.13791C>A (p.Tyr4597Ter)
c.13746C>A (p.Tyr4582Ter)
c.13899C>A (p.Tyr4633Ter)
c.13479C>A (p.Tyr4493Ter)
c.12804C>A (p.Tyr4268Ter)
c.8988C>A (p.Tyr2996Ter)
c.8541C>A (p.Tyr2847Ter)
c.7878C>A (p.Tyr2626Ter)
c.12393C>A (p.Tyr4131Ter)
5g.13692069T>ACA359188650DNAH5n.1123A>T
c.13790A>T (p.Tyr4597Phe)
c.13745A>T (p.Tyr4582Phe)
c.13898A>T (p.Tyr4633Phe)
c.13478A>T (p.Tyr4493Phe)
c.12803A>T (p.Tyr4268Phe)
c.8987A>T (p.Tyr2996Phe)
c.8540A>T (p.Tyr2847Phe)
c.7877A>T (p.Tyr2626Phe)
c.12392A>T (p.Tyr4131Phe)
5g.13692069T>CCA359188651DNAH5n.1123A>G
c.13790A>G (p.Tyr4597Cys)
c.13745A>G (p.Tyr4582Cys)
c.13898A>G (p.Tyr4633Cys)
c.13478A>G (p.Tyr4493Cys)
c.12803A>G (p.Tyr4268Cys)
c.8987A>G (p.Tyr2996Cys)
c.8540A>G (p.Tyr2847Cys)
c.7877A>G (p.Tyr2626Cys)
c.12392A>G (p.Tyr4131Cys)
5g.13692069T>GCA359188652DNAH5n.1123A>C
c.13790A>C (p.Tyr4597Ser)
c.13745A>C (p.Tyr4582Ser)
c.13898A>C (p.Tyr4633Ser)
c.13478A>C (p.Tyr4493Ser)
c.12803A>C (p.Tyr4268Ser)
c.8987A>C (p.Tyr2996Ser)
c.8540A>C (p.Tyr2847Ser)
c.7877A>C (p.Tyr2626Ser)
c.12392A>C (p.Tyr4131Ser)
5g.13692070A>CCA359188653DNAH5n.1122T>G
c.13789T>G (p.Tyr4597Asp)
c.13744T>G (p.Tyr4582Asp)
c.13897T>G (p.Tyr4633Asp)
c.13477T>G (p.Tyr4493Asp)
c.12802T>G (p.Tyr4268Asp)
c.8986T>G (p.Tyr2996Asp)
c.8539T>G (p.Tyr2847Asp)
c.7876T>G (p.Tyr2626Asp)
c.12391T>G (p.Tyr4131Asp)
5g.13692070A>GCA359188654DNAH5n.1122T>C
c.13789T>C (p.Tyr4597His)
c.13744T>C (p.Tyr4582His)
c.13897T>C (p.Tyr4633His)
c.13477T>C (p.Tyr4493His)
c.12802T>C (p.Tyr4268His)
c.8986T>C (p.Tyr2996His)
c.8539T>C (p.Tyr2847His)
c.7876T>C (p.Tyr2626His)
c.12391T>C (p.Tyr4131His)
5g.13692070A>TCA359188655DNAH5n.1122T>A
c.13789T>A (p.Tyr4597Asn)
c.13744T>A (p.Tyr4582Asn)
c.13897T>A (p.Tyr4633Asn)
c.13477T>A (p.Tyr4493Asn)
c.12802T>A (p.Tyr4268Asn)
c.8986T>A (p.Tyr2996Asn)
c.8539T>A (p.Tyr2847Asn)
c.7876T>A (p.Tyr2626Asn)
c.12391T>A (p.Tyr4131Asn)
5g.13692071G>ACA443248736DNAH5n.1121C>T
c.13788C>T (p.Asn4596=)
c.13743C>T (p.Asn4581=)
c.13896C>T (p.Asn4632=)
c.13476C>T (p.Asn4492=)
c.12801C>T (p.Asn4267=)
c.8985C>T (p.Asn2995=)
c.8538C>T (p.Asn2846=)
c.7875C>T (p.Asn2625=)
c.12390C>T (p.Asn4130=)
 gnomAD v4
5g.13692071G>CCA359188656DNAH5n.1121C>G
c.13788C>G (p.Asn4596Lys)
c.13743C>G (p.Asn4581Lys)
c.13896C>G (p.Asn4632Lys)
c.13476C>G (p.Asn4492Lys)
c.12801C>G (p.Asn4267Lys)
c.8985C>G (p.Asn2995Lys)
c.8538C>G (p.Asn2846Lys)
c.7875C>G (p.Asn2625Lys)
c.12390C>G (p.Asn4130Lys)
5g.13692071G>TCA359188657DNAH5n.1121C>A
c.13788C>A (p.Asn4596Lys)
c.13743C>A (p.Asn4581Lys)
c.13896C>A (p.Asn4632Lys)
c.13476C>A (p.Asn4492Lys)
c.12801C>A (p.Asn4267Lys)
c.8985C>A (p.Asn2995Lys)
c.8538C>A (p.Asn2846Lys)
c.7875C>A (p.Asn2625Lys)
c.12390C>A (p.Asn4130Lys)
5g.13692071_13692074delCA2673266103DNAH5n.1118_1121del
c.13785_13788del (p.Leu4595PhefsTer?)
c.13740_13743del (p.Leu4580PhefsTer?)
c.13893_13896del (p.Leu4631PhefsTer?)
c.13473_13476del (p.Leu4491PhefsTer?)
c.12798_12801del (p.Leu4266PhefsTer?)
c.8982_8985del (p.Leu2994PhefsTer?)
c.8535_8538del (p.Leu2845PhefsTer?)
c.7872_7875del (p.Leu2624PhefsTer?)
c.12387_12390del (p.Leu4129PhefsTer?)
 gnomAD v4
5g.13692072T>ACA359188659DNAH5n.1120A>T
c.13787A>T (p.Asn4596Ile)
c.13742A>T (p.Asn4581Ile)
c.13895A>T (p.Asn4632Ile)
c.13475A>T (p.Asn4492Ile)
c.12800A>T (p.Asn4267Ile)
c.8984A>T (p.Asn2995Ile)
c.8537A>T (p.Asn2846Ile)
c.7874A>T (p.Asn2625Ile)
c.12389A>T (p.Asn4130Ile)
5g.13692072T>CCA359188660DNAH5n.1120A>G
c.13787A>G (p.Asn4596Ser)
c.13742A>G (p.Asn4581Ser)
c.13895A>G (p.Asn4632Ser)
c.13475A>G (p.Asn4492Ser)
c.12800A>G (p.Asn4267Ser)
c.8984A>G (p.Asn2995Ser)
c.8537A>G (p.Asn2846Ser)
c.7874A>G (p.Asn2625Ser)
c.12389A>G (p.Asn4130Ser)
5g.13692072T>GCA359188658DNAH5n.1120A>C
c.13787A>C (p.Asn4596Thr)
c.13742A>C (p.Asn4581Thr)
c.13895A>C (p.Asn4632Thr)
c.13475A>C (p.Asn4492Thr)
c.12800A>C (p.Asn4267Thr)
c.8984A>C (p.Asn2995Thr)
c.8537A>C (p.Asn2846Thr)
c.7874A>C (p.Asn2625Thr)
c.12389A>C (p.Asn4130Thr)
5g.13692073T>ACA359188661DNAH5n.1119A>T
c.13786A>T (p.Asn4596Tyr)
c.13741A>T (p.Asn4581Tyr)
c.13894A>T (p.Asn4632Tyr)
c.13474A>T (p.Asn4492Tyr)
c.12799A>T (p.Asn4267Tyr)
c.8983A>T (p.Asn2995Tyr)
c.8536A>T (p.Asn2846Tyr)
c.7873A>T (p.Asn2625Tyr)
c.12388A>T (p.Asn4130Tyr)
5g.13692073T>CCA359188662DNAH5n.1119A>G
c.13786A>G (p.Asn4596Asp)
c.13741A>G (p.Asn4581Asp)
c.13894A>G (p.Asn4632Asp)
c.13474A>G (p.Asn4492Asp)
c.12799A>G (p.Asn4267Asp)
c.8983A>G (p.Asn2995Asp)
c.8536A>G (p.Asn2846Asp)
c.7873A>G (p.Asn2625Asp)
c.12388A>G (p.Asn4130Asp)
5g.13692073T>GCA359188663DNAH5n.1119A>C
c.13786A>C (p.Asn4596His)
c.13741A>C (p.Asn4581His)
c.13894A>C (p.Asn4632His)
c.13474A>C (p.Asn4492His)
c.12799A>C (p.Asn4267His)
c.8983A>C (p.Asn2995His)
c.8536A>C (p.Asn2846His)
c.7873A>C (p.Asn2625His)
c.12388A>C (p.Asn4130His)
5g.13692074C>ACA359188664DNAH5n.1118G>T
c.13785G>T (p.Leu4595Phe)
c.13740G>T (p.Leu4580Phe)
c.13893G>T (p.Leu4631Phe)
c.13473G>T (p.Leu4491Phe)
c.12798G>T (p.Leu4266Phe)
c.8982G>T (p.Leu2994Phe)
c.8535G>T (p.Leu2845Phe)
c.7872G>T (p.Leu2624Phe)
c.12387G>T (p.Leu4129Phe)
5g.13692074C>GCA359188665DNAH5n.1118G>C
c.13785G>C (p.Leu4595Phe)
c.13740G>C (p.Leu4580Phe)
c.13893G>C (p.Leu4631Phe)
c.13473G>C (p.Leu4491Phe)
c.12798G>C (p.Leu4266Phe)
c.8982G>C (p.Leu2994Phe)
c.8535G>C (p.Leu2845Phe)
c.7872G>C (p.Leu2624Phe)
c.12387G>C (p.Leu4129Phe)
5g.13692074C>TCA443248738DNAH5n.1118G>A
c.13785G>A (p.Leu4595=)
c.13740G>A (p.Leu4580=)
c.13893G>A (p.Leu4631=)
c.13473G>A (p.Leu4491=)
c.12798G>A (p.Leu4266=)
c.8982G>A (p.Leu2994=)
c.8535G>A (p.Leu2845=)
c.7872G>A (p.Leu2624=)
c.12387G>A (p.Leu4129=)
5g.13692075A>CCA359188668DNAH5n.1117T>G
c.13784T>G (p.Leu4595Trp)
c.13739T>G (p.Leu4580Trp)
c.13892T>G (p.Leu4631Trp)
c.13472T>G (p.Leu4491Trp)
c.12797T>G (p.Leu4266Trp)
c.8981T>G (p.Leu2994Trp)
c.8534T>G (p.Leu2845Trp)
c.7871T>G (p.Leu2624Trp)
c.12386T>G (p.Leu4129Trp)
5g.13692075A>GCA359188667DNAH5n.1117T>C
c.13784T>C (p.Leu4595Ser)
c.13739T>C (p.Leu4580Ser)
c.13892T>C (p.Leu4631Ser)
c.13472T>C (p.Leu4491Ser)
c.12797T>C (p.Leu4266Ser)
c.8981T>C (p.Leu2994Ser)
c.8534T>C (p.Leu2845Ser)
c.7871T>C (p.Leu2624Ser)
c.12386T>C (p.Leu4129Ser)
5g.13692075A>TCA359188666DNAH5n.1117T>A
c.13784T>A (p.Leu4595Ter)
c.13739T>A (p.Leu4580Ter)
c.13892T>A (p.Leu4631Ter)
c.13472T>A (p.Leu4491Ter)
c.12797T>A (p.Leu4266Ter)
c.8981T>A (p.Leu2994Ter)
c.8534T>A (p.Leu2845Ter)
c.7871T>A (p.Leu2624Ter)
c.12386T>A (p.Leu4129Ter)
5g.13692076A>CCA359188669DNAH5n.1116T>G
c.13783T>G (p.Leu4595Val)
c.13738T>G (p.Leu4580Val)
c.13891T>G (p.Leu4631Val)
c.13471T>G (p.Leu4491Val)
c.12796T>G (p.Leu4266Val)
c.8980T>G (p.Leu2994Val)
c.8533T>G (p.Leu2845Val)
c.7870T>G (p.Leu2624Val)
c.12385T>G (p.Leu4129Val)
5g.13692076A>GCA443248743DNAH5n.1116T>C
c.13783T>C (p.Leu4595=)
c.13738T>C (p.Leu4580=)
c.13891T>C (p.Leu4631=)
c.13471T>C (p.Leu4491=)
c.12796T>C (p.Leu4266=)
c.8980T>C (p.Leu2994=)
c.8533T>C (p.Leu2845=)
c.7870T>C (p.Leu2624=)
c.12385T>C (p.Leu4129=)
5g.13692076A>TCA359188670DNAH5n.1116T>A
c.13783T>A (p.Leu4595Met)
c.13738T>A (p.Leu4580Met)
c.13891T>A (p.Leu4631Met)
c.13471T>A (p.Leu4491Met)
c.12796T>A (p.Leu4266Met)
c.8980T>A (p.Leu2994Met)
c.8533T>A (p.Leu2845Met)
c.7870T>A (p.Leu2624Met)
c.12385T>A (p.Leu4129Met)
5g.13692077G>ACA443248744DNAH5n.1115C>T
c.13782C>T (p.Asp4594=)
c.13737C>T (p.Asp4579=)
c.13890C>T (p.Asp4630=)
c.13470C>T (p.Asp4490=)
c.12795C>T (p.Asp4265=)
c.8979C>T (p.Asp2993=)
c.8532C>T (p.Asp2844=)
c.7869C>T (p.Asp2623=)
c.12384C>T (p.Asp4128=)
 gnomAD v4
5g.13692077G>CCA359188671DNAH5n.1115C>G
c.13782C>G (p.Asp4594Glu)
c.13737C>G (p.Asp4579Glu)
c.13890C>G (p.Asp4630Glu)
c.13470C>G (p.Asp4490Glu)
c.12795C>G (p.Asp4265Glu)
c.8979C>G (p.Asp2993Glu)
c.8532C>G (p.Asp2844Glu)
c.7869C>G (p.Asp2623Glu)
c.12384C>G (p.Asp4128Glu)
5g.13692077G>TCA359188672DNAH5n.1115C>A
c.13782C>A (p.Asp4594Glu)
c.13737C>A (p.Asp4579Glu)
c.13890C>A (p.Asp4630Glu)
c.13470C>A (p.Asp4490Glu)
c.12795C>A (p.Asp4265Glu)
c.8979C>A (p.Asp2993Glu)
c.8532C>A (p.Asp2844Glu)
c.7869C>A (p.Asp2623Glu)
c.12384C>A (p.Asp4128Glu)
5g.13692078T>ACA359188673DNAH5n.1114A>T
c.13781A>T (p.Asp4594Val)
c.13736A>T (p.Asp4579Val)
c.13889A>T (p.Asp4630Val)
c.13469A>T (p.Asp4490Val)
c.12794A>T (p.Asp4265Val)
c.8978A>T (p.Asp2993Val)
c.8531A>T (p.Asp2844Val)
c.7868A>T (p.Asp2623Val)
c.12383A>T (p.Asp4128Val)
5g.13692078T>CCA359188674DNAH5n.1114A>G
c.13781A>G (p.Asp4594Gly)
c.13736A>G (p.Asp4579Gly)
c.13889A>G (p.Asp4630Gly)
c.13469A>G (p.Asp4490Gly)
c.12794A>G (p.Asp4265Gly)
c.8978A>G (p.Asp2993Gly)
c.8531A>G (p.Asp2844Gly)
c.7868A>G (p.Asp2623Gly)
c.12383A>G (p.Asp4128Gly)
5g.13692078T>GCA359188675DNAH5n.1114A>C
c.13781A>C (p.Asp4594Ala)
c.13736A>C (p.Asp4579Ala)
c.13889A>C (p.Asp4630Ala)
c.13469A>C (p.Asp4490Ala)
c.12794A>C (p.Asp4265Ala)
c.8978A>C (p.Asp2993Ala)
c.8531A>C (p.Asp2844Ala)
c.7868A>C (p.Asp2623Ala)
c.12383A>C (p.Asp4128Ala)
5g.13692079C>ACA3201241DNAH5n.1113G>T
c.13780G>T (p.Asp4594Tyr)
c.13735G>T (p.Asp4579Tyr)
c.13888G>T (p.Asp4630Tyr)
c.13468G>T (p.Asp4490Tyr)
c.12793G>T (p.Asp4265Tyr)
c.8977G>T (p.Asp2993Tyr)
c.8530G>T (p.Asp2844Tyr)
c.7867G>T (p.Asp2623Tyr)
c.12382G>T (p.Asp4128Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692079C=CA1528395868DNAH5n.1113G=
c.13780G= (p.Asp4594=)
c.13735G= (p.Asp4579=)
c.13888G= (p.Asp4630=)
c.13468G= (p.Asp4490=)
c.12793G= (p.Asp4265=)
c.8977G= (p.Asp2993=)
c.8530G= (p.Asp2844=)
c.7867G= (p.Asp2623=)
c.12382G= (p.Asp4128=)
5g.13692079C>GCA359188677DNAH5n.1113G>C
c.13780G>C (p.Asp4594His)
c.13735G>C (p.Asp4579His)
c.13888G>C (p.Asp4630His)
c.13468G>C (p.Asp4490His)
c.12793G>C (p.Asp4265His)
c.8977G>C (p.Asp2993His)
c.8530G>C (p.Asp2844His)
c.7867G>C (p.Asp2623His)
c.12382G>C (p.Asp4128His)
5g.13692079C>TCA359188676DNAH5n.1113G>A
c.13780G>A (p.Asp4594Asn)
c.13735G>A (p.Asp4579Asn)
c.13888G>A (p.Asp4630Asn)
c.13468G>A (p.Asp4490Asn)
c.12793G>A (p.Asp4265Asn)
c.8977G>A (p.Asp2993Asn)
c.8530G>A (p.Asp2844Asn)
c.7867G>A (p.Asp2623Asn)
c.12382G>A (p.Asp4128Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.13692080C>ACA443248748DNAH5n.1112G>T
c.13779G>T (p.Thr4593=)
c.13734G>T (p.Thr4578=)
c.13887G>T (p.Thr4629=)
c.13467G>T (p.Thr4489=)
c.12792G>T (p.Thr4264=)
c.8976G>T (p.Thr2992=)
c.8529G>T (p.Thr2843=)
c.7866G>T (p.Thr2622=)
c.12381G>T (p.Thr4127=)
 gnomAD v4
5g.13692080C=CA1528395869DNAH5n.1112G=
c.13779G= (p.Thr4593=)
c.13734G= (p.Thr4578=)
c.13887G= (p.Thr4629=)
c.13467G= (p.Thr4489=)
c.12792G= (p.Thr4264=)
c.8976G= (p.Thr2992=)
c.8529G= (p.Thr2843=)
c.7866G= (p.Thr2622=)
c.12381G= (p.Thr4127=)
5g.13692080C>GCA443248749DNAH5n.1112G>C
c.13779G>C (p.Thr4593=)
c.13734G>C (p.Thr4578=)
c.13887G>C (p.Thr4629=)
c.13467G>C (p.Thr4489=)
c.12792G>C (p.Thr4264=)
c.8976G>C (p.Thr2992=)
c.8529G>C (p.Thr2843=)
c.7866G>C (p.Thr2622=)
c.12381G>C (p.Thr4127=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692080C>TCA3201242DNAH5n.1112G>A
c.13779G>A (p.Thr4593=)
c.13734G>A (p.Thr4578=)
c.13887G>A (p.Thr4629=)
c.13467G>A (p.Thr4489=)
c.12792G>A (p.Thr4264=)
c.8976G>A (p.Thr2992=)
c.8529G>A (p.Thr2843=)
c.7866G>A (p.Thr2622=)
c.12381G>A (p.Thr4127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692081G>ACA348633DNAH5n.1111C>T
c.13778C>T (p.Thr4593Met)
c.13733C>T (p.Thr4578Met)
c.13886C>T (p.Thr4629Met)
c.13466C>T (p.Thr4489Met)
c.12791C>T (p.Thr4264Met)
c.8975C>T (p.Thr2992Met)
c.8528C>T (p.Thr2843Met)
c.7865C>T (p.Thr2622Met)
c.12380C>T (p.Thr4127Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692081G>CCA359188678DNAH5n.1111C>G
c.13778C>G (p.Thr4593Arg)
c.13733C>G (p.Thr4578Arg)
c.13886C>G (p.Thr4629Arg)
c.13466C>G (p.Thr4489Arg)
c.12791C>G (p.Thr4264Arg)
c.8975C>G (p.Thr2992Arg)
c.8528C>G (p.Thr2843Arg)
c.7865C>G (p.Thr2622Arg)
c.12380C>G (p.Thr4127Arg)
5g.13692081G=CA1528395870DNAH5n.1111C=
c.13778C= (p.Thr4593=)
c.13733C= (p.Thr4578=)
c.13886C= (p.Thr4629=)
c.13466C= (p.Thr4489=)
c.12791C= (p.Thr4264=)
c.8975C= (p.Thr2992=)
c.8528C= (p.Thr2843=)
c.7865C= (p.Thr2622=)
c.12380C= (p.Thr4127=)
5g.13692081G>TCA359188679DNAH5n.1111C>A
c.13778C>A (p.Thr4593Lys)
c.13733C>A (p.Thr4578Lys)
c.13886C>A (p.Thr4629Lys)
c.13466C>A (p.Thr4489Lys)
c.12791C>A (p.Thr4264Lys)
c.8975C>A (p.Thr2992Lys)
c.8528C>A (p.Thr2843Lys)
c.7865C>A (p.Thr2622Lys)
c.12380C>A (p.Thr4127Lys)
5g.13692082T>ACA3201243DNAH5n.1110A>T
c.13777A>T (p.Thr4593Ser)
c.13732A>T (p.Thr4578Ser)
c.13885A>T (p.Thr4629Ser)
c.13465A>T (p.Thr4489Ser)
c.12790A>T (p.Thr4264Ser)
c.8974A>T (p.Thr2992Ser)
c.8527A>T (p.Thr2843Ser)
c.7864A>T (p.Thr2622Ser)
c.12379A>T (p.Thr4127Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13692082T>CCA359188680DNAH5n.1110A>G
c.13777A>G (p.Thr4593Ala)
c.13732A>G (p.Thr4578Ala)
c.13885A>G (p.Thr4629Ala)
c.13465A>G (p.Thr4489Ala)
c.12790A>G (p.Thr4264Ala)
c.8974A>G (p.Thr2992Ala)
c.8527A>G (p.Thr2843Ala)
c.7864A>G (p.Thr2622Ala)
c.12379A>G (p.Thr4127Ala)
5g.13692082T>GCA359188681DNAH5n.1110A>C
c.13777A>C (p.Thr4593Pro)
c.13732A>C (p.Thr4578Pro)
c.13885A>C (p.Thr4629Pro)
c.13465A>C (p.Thr4489Pro)
c.12790A>C (p.Thr4264Pro)
c.8974A>C (p.Thr2992Pro)
c.8527A>C (p.Thr2843Pro)
c.7864A>C (p.Thr2622Pro)
c.12379A>C (p.Thr4127Pro)
5g.13692082T=CA1528395871DNAH5n.1110A=
c.13777A= (p.Thr4593=)
c.13732A= (p.Thr4578=)
c.13885A= (p.Thr4629=)
c.13465A= (p.Thr4489=)
c.12790A= (p.Thr4264=)
c.8974A= (p.Thr2992=)
c.8527A= (p.Thr2843=)
c.7864A= (p.Thr2622=)
c.12379A= (p.Thr4127=)
5g.13692083T>ACA443248754DNAH5n.1109A>T
c.13776A>T (p.Arg4592=)
c.13731A>T (p.Arg4577=)
c.13884A>T (p.Arg4628=)
c.13464A>T (p.Arg4488=)
c.12789A>T (p.Arg4263=)
c.8973A>T (p.Arg2991=)
c.8526A>T (p.Arg2842=)
c.7863A>T (p.Arg2621=)
c.12378A>T (p.Arg4126=)
5g.13692083T>CCA443248755DNAH5n.1109A>G
c.13776A>G (p.Arg4592=)
c.13731A>G (p.Arg4577=)
c.13884A>G (p.Arg4628=)
c.13464A>G (p.Arg4488=)
c.12789A>G (p.Arg4263=)
c.8973A>G (p.Arg2991=)
c.8526A>G (p.Arg2842=)
c.7863A>G (p.Arg2621=)
c.12378A>G (p.Arg4126=)
5g.13692083T>GCA443248757DNAH5n.1109A>C
c.13776A>C (p.Arg4592=)
c.13731A>C (p.Arg4577=)
c.13884A>C (p.Arg4628=)
c.13464A>C (p.Arg4488=)
c.12789A>C (p.Arg4263=)
c.8973A>C (p.Arg2991=)
c.8526A>C (p.Arg2842=)
c.7863A>C (p.Arg2621=)
c.12378A>C (p.Arg4126=)
5g.13692084C>ACA3201245DNAH5n.1108G>T
c.13775G>T (p.Arg4592Leu)
c.13730G>T (p.Arg4577Leu)
c.13883G>T (p.Arg4628Leu)
c.13463G>T (p.Arg4488Leu)
c.12788G>T (p.Arg4263Leu)
c.8972G>T (p.Arg2991Leu)
c.8525G>T (p.Arg2842Leu)
c.7862G>T (p.Arg2621Leu)
c.12377G>T (p.Arg4126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13692084C=CA1528395872DNAH5n.1108G=
c.13775G= (p.Arg4592=)
c.13730G= (p.Arg4577=)
c.13883G= (p.Arg4628=)
c.13463G= (p.Arg4488=)
c.12788G= (p.Arg4263=)
c.8972G= (p.Arg2991=)
c.8525G= (p.Arg2842=)
c.7862G= (p.Arg2621=)
c.12377G= (p.Arg4126=)
5g.13692084C>GCA359188682DNAH5n.1108G>C
c.13775G>C (p.Arg4592Pro)
c.13730G>C (p.Arg4577Pro)
c.13883G>C (p.Arg4628Pro)
c.13463G>C (p.Arg4488Pro)
c.12788G>C (p.Arg4263Pro)
c.8972G>C (p.Arg2991Pro)
c.8525G>C (p.Arg2842Pro)
c.7862G>C (p.Arg2621Pro)
c.12377G>C (p.Arg4126Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692084C>TCA3201244DNAH5n.1108G>A
c.13775G>A (p.Arg4592Gln)
c.13730G>A (p.Arg4577Gln)
c.13883G>A (p.Arg4628Gln)
c.13463G>A (p.Arg4488Gln)
c.12788G>A (p.Arg4263Gln)
c.8972G>A (p.Arg2991Gln)
c.8525G>A (p.Arg2842Gln)
c.7862G>A (p.Arg2621Gln)
c.12377G>A (p.Arg4126Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13692085G>ACA3201246DNAH5n.1107C>T
c.13774C>T (p.Arg4592Ter)
c.13729C>T (p.Arg4577Ter)
c.13882C>T (p.Arg4628Ter)
c.13462C>T (p.Arg4488Ter)
c.12787C>T (p.Arg4263Ter)
c.8971C>T (p.Arg2991Ter)
c.8524C>T (p.Arg2842Ter)
c.7861C>T (p.Arg2621Ter)
c.12376C>T (p.Arg4126Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13692085G>CCA359188683DNAH5n.1107C>G
c.13774C>G (p.Arg4592Gly)
c.13729C>G (p.Arg4577Gly)
c.13882C>G (p.Arg4628Gly)
c.13462C>G (p.Arg4488Gly)
c.12787C>G (p.Arg4263Gly)
c.8971C>G (p.Arg2991Gly)
c.8524C>G (p.Arg2842Gly)
c.7861C>G (p.Arg2621Gly)
c.12376C>G (p.Arg4126Gly)
 COSMIC
5g.13692085G=CA1528395873DNAH5n.1107C=
c.13774C= (p.Arg4592=)
c.13729C= (p.Arg4577=)
c.13882C= (p.Arg4628=)
c.13462C= (p.Arg4488=)
c.12787C= (p.Arg4263=)
c.8971C= (p.Arg2991=)
c.8524C= (p.Arg2842=)
c.7861C= (p.Arg2621=)
c.12376C= (p.Arg4126=)
5g.13692085G>TCA443248759DNAH5n.1107C>A
c.13774C>A (p.Arg4592=)
c.13729C>A (p.Arg4577=)
c.13882C>A (p.Arg4628=)
c.13462C>A (p.Arg4488=)
c.12787C>A (p.Arg4263=)
c.8971C>A (p.Arg2991=)
c.8524C>A (p.Arg2842=)
c.7861C>A (p.Arg2621=)
c.12376C>A (p.Arg4126=)
 ClinVar
5g.13692086A=CA1528395874DNAH5n.1106T=
c.13773T= (p.Val4591=)
c.13728T= (p.Val4576=)
c.13881T= (p.Val4627=)
c.13461T= (p.Val4487=)
c.12786T= (p.Val4262=)
c.8970T= (p.Val2990=)
c.8523T= (p.Val2841=)
c.7860T= (p.Val2620=)
c.12375T= (p.Val4125=)
5g.13692086A>CCA443248765DNAH5n.1106T>G
c.13773T>G (p.Val4591=)
c.13728T>G (p.Val4576=)
c.13881T>G (p.Val4627=)
c.13461T>G (p.Val4487=)
c.12786T>G (p.Val4262=)
c.8970T>G (p.Val2990=)
c.8523T>G (p.Val2841=)
c.7860T>G (p.Val2620=)
c.12375T>G (p.Val4125=)
 ClinVar dbSNP gnomAD v4
5g.13692086A>GCA443248764DNAH5n.1106T>C
c.13773T>C (p.Val4591=)
c.13728T>C (p.Val4576=)
c.13881T>C (p.Val4627=)
c.13461T>C (p.Val4487=)
c.12786T>C (p.Val4262=)
c.8970T>C (p.Val2990=)
c.8523T>C (p.Val2841=)
c.7860T>C (p.Val2620=)
c.12375T>C (p.Val4125=)
5g.13692086A>TCA443248761DNAH5n.1106T>A
c.13773T>A (p.Val4591=)
c.13728T>A (p.Val4576=)
c.13881T>A (p.Val4627=)
c.13461T>A (p.Val4487=)
c.12786T>A (p.Val4262=)
c.8970T>A (p.Val2990=)
c.8523T>A (p.Val2841=)
c.7860T>A (p.Val2620=)
c.12375T>A (p.Val4125=)
5g.13692087A>CCA359188686DNAH5n.1105T>G
c.13772T>G (p.Val4591Gly)
c.13727T>G (p.Val4576Gly)
c.13880T>G (p.Val4627Gly)
c.13460T>G (p.Val4487Gly)
c.12785T>G (p.Val4262Gly)
c.8969T>G (p.Val2990Gly)
c.8522T>G (p.Val2841Gly)
c.7859T>G (p.Val2620Gly)
c.12374T>G (p.Val4125Gly)
5g.13692087A>GCA359188684DNAH5n.1105T>C
c.13772T>C (p.Val4591Ala)
c.13727T>C (p.Val4576Ala)
c.13880T>C (p.Val4627Ala)
c.13460T>C (p.Val4487Ala)
c.12785T>C (p.Val4262Ala)
c.8969T>C (p.Val2990Ala)
c.8522T>C (p.Val2841Ala)
c.7859T>C (p.Val2620Ala)
c.12374T>C (p.Val4125Ala)
5g.13692087A>TCA359188685DNAH5n.1105T>A
c.13772T>A (p.Val4591Asp)
c.13727T>A (p.Val4576Asp)
c.13880T>A (p.Val4627Asp)
c.13460T>A (p.Val4487Asp)
c.12785T>A (p.Val4262Asp)
c.8969T>A (p.Val2990Asp)
c.8522T>A (p.Val2841Asp)
c.7859T>A (p.Val2620Asp)
c.12374T>A (p.Val4125Asp)
5g.13692088C>ACA359188687DNAH5n.1104G>T
c.13771G>T (p.Val4591Phe)
c.13726G>T (p.Val4576Phe)
c.13879G>T (p.Val4627Phe)
c.13459G>T (p.Val4487Phe)
c.12784G>T (p.Val4262Phe)
c.8968G>T (p.Val2990Phe)
c.8521G>T (p.Val2841Phe)
c.7858G>T (p.Val2620Phe)
c.12373G>T (p.Val4125Phe)
5g.13692088C=CA1528395875DNAH5n.1104G=
c.13771G= (p.Val4591=)
c.13726G= (p.Val4576=)
c.13879G= (p.Val4627=)
c.13459G= (p.Val4487=)
c.12784G= (p.Val4262=)
c.8968G= (p.Val2990=)
c.8521G= (p.Val2841=)
c.7858G= (p.Val2620=)
c.12373G= (p.Val4125=)
5g.13692088C>GCA359188688DNAH5n.1104G>C
c.13771G>C (p.Val4591Leu)
c.13726G>C (p.Val4576Leu)
c.13879G>C (p.Val4627Leu)
c.13459G>C (p.Val4487Leu)
c.12784G>C (p.Val4262Leu)
c.8968G>C (p.Val2990Leu)
c.8521G>C (p.Val2841Leu)
c.7858G>C (p.Val2620Leu)
c.12373G>C (p.Val4125Leu)
5g.13692088C>TCA359188689DNAH5n.1104G>A
c.13771G>A (p.Val4591Ile)
c.13726G>A (p.Val4576Ile)
c.13879G>A (p.Val4627Ile)
c.13459G>A (p.Val4487Ile)
c.12784G>A (p.Val4262Ile)
c.8968G>A (p.Val2990Ile)
c.8521G>A (p.Val2841Ile)
c.7858G>A (p.Val2620Ile)
c.12373G>A (p.Val4125Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.13692089T>ACA443248769DNAH5n.1103A>T
c.13770A>T (p.Pro4590=)
c.13725A>T (p.Pro4575=)
c.13878A>T (p.Pro4626=)
c.13458A>T (p.Pro4486=)
c.12783A>T (p.Pro4261=)
c.8967A>T (p.Pro2989=)
c.8520A>T (p.Pro2840=)
c.7857A>T (p.Pro2619=)
c.12372A>T (p.Pro4124=)
5g.13692089T>CCA443248771DNAH5n.1103A>G
c.13770A>G (p.Pro4590=)
c.13725A>G (p.Pro4575=)
c.13878A>G (p.Pro4626=)
c.13458A>G (p.Pro4486=)
c.12783A>G (p.Pro4261=)
c.8967A>G (p.Pro2989=)
c.8520A>G (p.Pro2840=)
c.7857A>G (p.Pro2619=)
c.12372A>G (p.Pro4124=)
 gnomAD v4
5g.13692089T>GCA443248774DNAH5n.1103A>C
c.13770A>C (p.Pro4590=)
c.13725A>C (p.Pro4575=)
c.13878A>C (p.Pro4626=)
c.13458A>C (p.Pro4486=)
c.12783A>C (p.Pro4261=)
c.8967A>C (p.Pro2989=)
c.8520A>C (p.Pro2840=)
c.7857A>C (p.Pro2619=)
c.12372A>C (p.Pro4124=)
5g.13692090G>ACA359188690DNAH5n.1102C>T
c.13769C>T (p.Pro4590Leu)
c.13724C>T (p.Pro4575Leu)
c.13877C>T (p.Pro4626Leu)
c.13457C>T (p.Pro4486Leu)
c.12782C>T (p.Pro4261Leu)
c.8966C>T (p.Pro2989Leu)
c.8519C>T (p.Pro2840Leu)
c.7856C>T (p.Pro2619Leu)
c.12371C>T (p.Pro4124Leu)
5g.13692090G>CCA359188691DNAH5n.1102C>G
c.13769C>G (p.Pro4590Arg)
c.13724C>G (p.Pro4575Arg)
c.13877C>G (p.Pro4626Arg)
c.13457C>G (p.Pro4486Arg)
c.12782C>G (p.Pro4261Arg)
c.8966C>G (p.Pro2989Arg)
c.8519C>G (p.Pro2840Arg)
c.7856C>G (p.Pro2619Arg)
c.12371C>G (p.Pro4124Arg)
5g.13692090G=CA1528395876DNAH5n.1102C=
c.13769C= (p.Pro4590=)
c.13724C= (p.Pro4575=)
c.13877C= (p.Pro4626=)
c.13457C= (p.Pro4486=)
c.12782C= (p.Pro4261=)
c.8966C= (p.Pro2989=)
c.8519C= (p.Pro2840=)
c.7856C= (p.Pro2619=)
c.12371C= (p.Pro4124=)
5g.13692090G>TCA3201247DNAH5n.1102C>A
c.13769C>A (p.Pro4590Gln)
c.13724C>A (p.Pro4575Gln)
c.13877C>A (p.Pro4626Gln)
c.13457C>A (p.Pro4486Gln)
c.12782C>A (p.Pro4261Gln)
c.8966C>A (p.Pro2989Gln)
c.8519C>A (p.Pro2840Gln)
c.7856C>A (p.Pro2619Gln)
c.12371C>A (p.Pro4124Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13692091G>ACA359188694DNAH5n.1101C>T
c.13768C>T (p.Pro4590Ser)
c.13723C>T (p.Pro4575Ser)
c.13876C>T (p.Pro4626Ser)
c.13456C>T (p.Pro4486Ser)
c.12781C>T (p.Pro4261Ser)
c.8965C>T (p.Pro2989Ser)
c.8518C>T (p.Pro2840Ser)
c.7855C>T (p.Pro2619Ser)
c.12370C>T (p.Pro4124Ser)
 COSMIC
5g.13692091G>CCA359188692DNAH5n.1101C>G
c.13768C>G (p.Pro4590Ala)
c.13723C>G (p.Pro4575Ala)
c.13876C>G (p.Pro4626Ala)
c.13456C>G (p.Pro4486Ala)
c.12781C>G (p.Pro4261Ala)
c.8965C>G (p.Pro2989Ala)
c.8518C>G (p.Pro2840Ala)
c.7855C>G (p.Pro2619Ala)
c.12370C>G (p.Pro4124Ala)
 gnomAD v4
5g.13692091G>TCA359188693DNAH5n.1101C>A
c.13768C>A (p.Pro4590Thr)
c.13723C>A (p.Pro4575Thr)
c.13876C>A (p.Pro4626Thr)
c.13456C>A (p.Pro4486Thr)
c.12781C>A (p.Pro4261Thr)
c.8965C>A (p.Pro2989Thr)
c.8518C>A (p.Pro2840Thr)
c.7855C>A (p.Pro2619Thr)
c.12370C>A (p.Pro4124Thr)
5g.13692092C>ACA359188695DNAH5n.1100G>T
c.13767G>T (p.Lys4589Asn)
c.13722G>T (p.Lys4574Asn)
c.13875G>T (p.Lys4625Asn)
c.13455G>T (p.Lys4485Asn)
c.12780G>T (p.Lys4260Asn)
c.8964G>T (p.Lys2988Asn)
c.8517G>T (p.Lys2839Asn)
c.7854G>T (p.Lys2618Asn)
c.12369G>T (p.Lys4123Asn)
5g.13692092C>GCA359188696DNAH5n.1100G>C
c.13767G>C (p.Lys4589Asn)
c.13722G>C (p.Lys4574Asn)
c.13875G>C (p.Lys4625Asn)
c.13455G>C (p.Lys4485Asn)
c.12780G>C (p.Lys4260Asn)
c.8964G>C (p.Lys2988Asn)
c.8517G>C (p.Lys2839Asn)
c.7854G>C (p.Lys2618Asn)
c.12369G>C (p.Lys4123Asn)
5g.13692092C>TCA443248778DNAH5n.1100G>A
c.13767G>A (p.Lys4589=)
c.13722G>A (p.Lys4574=)
c.13875G>A (p.Lys4625=)
c.13455G>A (p.Lys4485=)
c.12780G>A (p.Lys4260=)
c.8964G>A (p.Lys2988=)
c.8517G>A (p.Lys2839=)
c.7854G>A (p.Lys2618=)
c.12369G>A (p.Lys4123=)
5g.13692093T>ACA359188697DNAH5n.1099A>T
c.13766A>T (p.Lys4589Met)
c.13721A>T (p.Lys4574Met)
c.13874A>T (p.Lys4625Met)
c.13454A>T (p.Lys4485Met)
c.12779A>T (p.Lys4260Met)
c.8963A>T (p.Lys2988Met)
c.8516A>T (p.Lys2839Met)
c.7853A>T (p.Lys2618Met)
c.12368A>T (p.Lys4123Met)
5g.13692093T>CCA359188698DNAH5n.1099A>G
c.13766A>G (p.Lys4589Arg)
c.13721A>G (p.Lys4574Arg)
c.13874A>G (p.Lys4625Arg)
c.13454A>G (p.Lys4485Arg)
c.12779A>G (p.Lys4260Arg)
c.8963A>G (p.Lys2988Arg)
c.8516A>G (p.Lys2839Arg)
c.7853A>G (p.Lys2618Arg)
c.12368A>G (p.Lys4123Arg)
 gnomAD v4
5g.13692093T>GCA359188699DNAH5n.1099A>C
c.13766A>C (p.Lys4589Thr)
c.13721A>C (p.Lys4574Thr)
c.13874A>C (p.Lys4625Thr)
c.13454A>C (p.Lys4485Thr)
c.12779A>C (p.Lys4260Thr)
c.8963A>C (p.Lys2988Thr)
c.8516A>C (p.Lys2839Thr)
c.7853A>C (p.Lys2618Thr)
c.12368A>C (p.Lys4123Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.13692093T=CA1528395877DNAH5n.1099A=
c.13766A= (p.Lys4589=)
c.13721A= (p.Lys4574=)
c.13874A= (p.Lys4625=)
c.13454A= (p.Lys4485=)
c.12779A= (p.Lys4260=)
c.8963A= (p.Lys2988=)
c.8516A= (p.Lys2839=)
c.7853A= (p.Lys2618=)
c.12368A= (p.Lys4123=)
5g.13692094T>ACA359188702DNAH5n.1098A>T
c.13765A>T (p.Lys4589Ter)
c.13720A>T (p.Lys4574Ter)
c.13873A>T (p.Lys4625Ter)
c.13453A>T (p.Lys4485Ter)
c.12778A>T (p.Lys4260Ter)
c.8962A>T (p.Lys2988Ter)
c.8515A>T (p.Lys2839Ter)
c.7852A>T (p.Lys2618Ter)
c.12367A>T (p.Lys4123Ter)
5g.13692094T>CCA359188700DNAH5n.1098A>G
c.13765A>G (p.Lys4589Glu)
c.13720A>G (p.Lys4574Glu)
c.13873A>G (p.Lys4625Glu)
c.13453A>G (p.Lys4485Glu)
c.12778A>G (p.Lys4260Glu)
c.8962A>G (p.Lys2988Glu)
c.8515A>G (p.Lys2839Glu)
c.7852A>G (p.Lys2618Glu)
c.12367A>G (p.Lys4123Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13692094T>GCA359188701DNAH5n.1098A>C
c.13765A>C (p.Lys4589Gln)
c.13720A>C (p.Lys4574Gln)
c.13873A>C (p.Lys4625Gln)
c.13453A>C (p.Lys4485Gln)
c.12778A>C (p.Lys4260Gln)
c.8962A>C (p.Lys2988Gln)
c.8515A>C (p.Lys2839Gln)
c.7852A>C (p.Lys2618Gln)
c.12367A>C (p.Lys4123Gln)
5g.13692094T=CA1528395878DNAH5n.1098A=
c.13765A= (p.Lys4589=)
c.13720A= (p.Lys4574=)
c.13873A= (p.Lys4625=)
c.13453A= (p.Lys4485=)
c.12778A= (p.Lys4260=)
c.8962A= (p.Lys2988=)
c.8515A= (p.Lys2839=)
c.7852A= (p.Lys2618=)
c.12367A= (p.Lys4123=)
5g.13692095C>ACA113905483DNAH5n.1097G>T
c.13764G>T (p.Lys4588Asn)
c.13719G>T (p.Lys4573Asn)
c.13872G>T (p.Lys4624Asn)
c.13452G>T (p.Lys4484Asn)
c.12777G>T (p.Lys4259Asn)
c.8961G>T (p.Lys2987Asn)
c.8514G>T (p.Lys2838Asn)
c.7851G>T (p.Lys2617Asn)
c.12366G>T (p.Lys4122Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13692095C=CA1528395879DNAH5n.1097G=
c.13764G= (p.Lys4588=)
c.13719G= (p.Lys4573=)
c.13872G= (p.Lys4624=)
c.13452G= (p.Lys4484=)
c.12777G= (p.Lys4259=)
c.8961G= (p.Lys2987=)
c.8514G= (p.Lys2838=)
c.7851G= (p.Lys2617=)
c.12366G= (p.Lys4122=)
5g.13692095C>GCA359188703DNAH5n.1097G>C
c.13764G>C (p.Lys4588Asn)
c.13719G>C (p.Lys4573Asn)
c.13872G>C (p.Lys4624Asn)
c.13452G>C (p.Lys4484Asn)
c.12777G>C (p.Lys4259Asn)
c.8961G>C (p.Lys2987Asn)
c.8514G>C (p.Lys2838Asn)
c.7851G>C (p.Lys2617Asn)
c.12366G>C (p.Lys4122Asn)
5g.13692095C>TCA443248782DNAH5n.1097G>A
c.13764G>A (p.Lys4588=)
c.13719G>A (p.Lys4573=)
c.13872G>A (p.Lys4624=)
c.13452G>A (p.Lys4484=)
c.12777G>A (p.Lys4259=)
c.8961G>A (p.Lys2987=)
c.8514G>A (p.Lys2838=)
c.7851G>A (p.Lys2617=)
c.12366G>A (p.Lys4122=)
 COSMIC
5g.13692096T>ACA359188704DNAH5n.1096A>T
c.13763A>T (p.Lys4588Met)
c.13718A>T (p.Lys4573Met)
c.13871A>T (p.Lys4624Met)
c.13451A>T (p.Lys4484Met)
c.12776A>T (p.Lys4259Met)
c.8960A>T (p.Lys2987Met)
c.8513A>T (p.Lys2838Met)
c.7850A>T (p.Lys2617Met)
c.12365A>T (p.Lys4122Met)
5g.13692096T>CCA359188705DNAH5n.1096A>G
c.13763A>G (p.Lys4588Arg)
c.13718A>G (p.Lys4573Arg)
c.13871A>G (p.Lys4624Arg)
c.13451A>G (p.Lys4484Arg)
c.12776A>G (p.Lys4259Arg)
c.8960A>G (p.Lys2987Arg)
c.8513A>G (p.Lys2838Arg)
c.7850A>G (p.Lys2617Arg)
c.12365A>G (p.Lys4122Arg)
 COSMIC
5g.13692096T>GCA359188706DNAH5n.1096A>C
c.13763A>C (p.Lys4588Thr)
c.13718A>C (p.Lys4573Thr)
c.13871A>C (p.Lys4624Thr)
c.13451A>C (p.Lys4484Thr)
c.12776A>C (p.Lys4259Thr)
c.8960A>C (p.Lys2987Thr)
c.8513A>C (p.Lys2838Thr)
c.7850A>C (p.Lys2617Thr)
c.12365A>C (p.Lys4122Thr)
5g.13692097T>ACA359188707DNAH5n.1095A>T
c.13762A>T (p.Lys4588Ter)
c.13717A>T (p.Lys4573Ter)
c.13870A>T (p.Lys4624Ter)
c.13450A>T (p.Lys4484Ter)
c.12775A>T (p.Lys4259Ter)
c.8959A>T (p.Lys2987Ter)
c.8512A>T (p.Lys2838Ter)
c.7849A>T (p.Lys2617Ter)
c.12364A>T (p.Lys4122Ter)
5g.13692097T>CCA359188708DNAH5n.1095A>G
c.13762A>G (p.Lys4588Glu)
c.13717A>G (p.Lys4573Glu)
c.13870A>G (p.Lys4624Glu)
c.13450A>G (p.Lys4484Glu)
c.12775A>G (p.Lys4259Glu)
c.8959A>G (p.Lys2987Glu)
c.8512A>G (p.Lys2838Glu)
c.7849A>G (p.Lys2617Glu)
c.12364A>G (p.Lys4122Glu)
5g.13692097T>GCA359188709DNAH5n.1095A>C
c.13762A>C (p.Lys4588Gln)
c.13717A>C (p.Lys4573Gln)
c.13870A>C (p.Lys4624Gln)
c.13450A>C (p.Lys4484Gln)
c.12775A>C (p.Lys4259Gln)
c.8959A>C (p.Lys2987Gln)
c.8512A>C (p.Lys2838Gln)
c.7849A>C (p.Lys2617Gln)
c.12364A>C (p.Lys4122Gln)
5g.13692098A>CCA359188710DNAH5n.1094T>G
c.13761T>G (p.Tyr4587Ter)
c.13716T>G (p.Tyr4572Ter)
c.13869T>G (p.Tyr4623Ter)
c.13449T>G (p.Tyr4483Ter)
c.12774T>G (p.Tyr4258Ter)
c.8958T>G (p.Tyr2986Ter)
c.8511T>G (p.Tyr2837Ter)
c.7848T>G (p.Tyr2616Ter)
c.12363T>G (p.Tyr4121Ter)
5g.13692098A>GCA443248783DNAH5n.1094T>C
c.13761T>C (p.Tyr4587=)
c.13716T>C (p.Tyr4572=)
c.13869T>C (p.Tyr4623=)
c.13449T>C (p.Tyr4483=)
c.12774T>C (p.Tyr4258=)
c.8958T>C (p.Tyr2986=)
c.8511T>C (p.Tyr2837=)
c.7848T>C (p.Tyr2616=)
c.12363T>C (p.Tyr4121=)
5g.13692098A>TCA359188711DNAH5n.1094T>A
c.13761T>A (p.Tyr4587Ter)
c.13716T>A (p.Tyr4572Ter)
c.13869T>A (p.Tyr4623Ter)
c.13449T>A (p.Tyr4483Ter)
c.12774T>A (p.Tyr4258Ter)
c.8958T>A (p.Tyr2986Ter)
c.8511T>A (p.Tyr2837Ter)
c.7848T>A (p.Tyr2616Ter)
c.12363T>A (p.Tyr4121Ter)
5g.13692099T>ACA359188712DNAH5n.1093A>T
c.13760A>T (p.Tyr4587Phe)
c.13715A>T (p.Tyr4572Phe)
c.13868A>T (p.Tyr4623Phe)
c.13448A>T (p.Tyr4483Phe)
c.12773A>T (p.Tyr4258Phe)
c.8957A>T (p.Tyr2986Phe)
c.8510A>T (p.Tyr2837Phe)
c.7847A>T (p.Tyr2616Phe)
c.12362A>T (p.Tyr4121Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.13692099T>CCA359188713DNAH5n.1093A>G
c.13760A>G (p.Tyr4587Cys)
c.13715A>G (p.Tyr4572Cys)
c.13868A>G (p.Tyr4623Cys)
c.13448A>G (p.Tyr4483Cys)
c.12773A>G (p.Tyr4258Cys)
c.8957A>G (p.Tyr2986Cys)
c.8510A>G (p.Tyr2837Cys)
c.7847A>G (p.Tyr2616Cys)
c.12362A>G (p.Tyr4121Cys)
 ClinVar dbSNP
5g.13692099T>GCA359188714DNAH5n.1093A>C
c.13760A>C (p.Tyr4587Ser)
c.13715A>C (p.Tyr4572Ser)
c.13868A>C (p.Tyr4623Ser)
c.13448A>C (p.Tyr4483Ser)
c.12773A>C (p.Tyr4258Ser)
c.8957A>C (p.Tyr2986Ser)
c.8510A>C (p.Tyr2837Ser)
c.7847A>C (p.Tyr2616Ser)
c.12362A>C (p.Tyr4121Ser)
5g.13692099T=CA1528395880DNAH5n.1093A=
c.13760A= (p.Tyr4587=)
c.13715A= (p.Tyr4572=)
c.13868A= (p.Tyr4623=)
c.13448A= (p.Tyr4483=)
c.12773A= (p.Tyr4258=)
c.8957A= (p.Tyr2986=)
c.8510A= (p.Tyr2837=)
c.7847A= (p.Tyr2616=)
c.12362A= (p.Tyr4121=)
5g.13692100A>CCA359188715DNAH5n.1092T>G
c.13759T>G (p.Tyr4587Asp)
c.13714T>G (p.Tyr4572Asp)
c.13867T>G (p.Tyr4623Asp)
c.13447T>G (p.Tyr4483Asp)
c.12772T>G (p.Tyr4258Asp)
c.8956T>G (p.Tyr2986Asp)
c.8509T>G (p.Tyr2837Asp)
c.7846T>G (p.Tyr2616Asp)
c.12361T>G (p.Tyr4121Asp)
5g.13692100A>GCA359188717DNAH5n.1092T>C
c.13759T>C (p.Tyr4587His)
c.13714T>C (p.Tyr4572His)
c.13867T>C (p.Tyr4623His)
c.13447T>C (p.Tyr4483His)
c.12772T>C (p.Tyr4258His)
c.8956T>C (p.Tyr2986His)
c.8509T>C (p.Tyr2837His)
c.7846T>C (p.Tyr2616His)
c.12361T>C (p.Tyr4121His)
5g.13692100A>TCA359188716DNAH5n.1092T>A
c.13759T>A (p.Tyr4587Asn)
c.13714T>A (p.Tyr4572Asn)
c.13867T>A (p.Tyr4623Asn)
c.13447T>A (p.Tyr4483Asn)
c.12772T>A (p.Tyr4258Asn)
c.8956T>A (p.Tyr2986Asn)
c.8509T>A (p.Tyr2837Asn)
c.7846T>A (p.Tyr2616Asn)
c.12361T>A (p.Tyr4121Asn)
5g.13692101G>ACA443248787DNAH5n.1091C>T
c.13758C>T (p.Ile4586=)
c.13713C>T (p.Ile4571=)
c.13866C>T (p.Ile4622=)
c.13446C>T (p.Ile4482=)
c.12771C>T (p.Ile4257=)
c.8955C>T (p.Ile2985=)
c.8508C>T (p.Ile2836=)
c.7845C>T (p.Ile2615=)
c.12360C>T (p.Ile4120=)
 gnomAD v4
5g.13692101G>CCA359188718DNAH5n.1091C>G
c.13758C>G (p.Ile4586Met)
c.13713C>G (p.Ile4571Met)
c.13866C>G (p.Ile4622Met)
c.13446C>G (p.Ile4482Met)
c.12771C>G (p.Ile4257Met)
c.8955C>G (p.Ile2985Met)
c.8508C>G (p.Ile2836Met)
c.7845C>G (p.Ile2615Met)
c.12360C>G (p.Ile4120Met)
5g.13692101G>TCA443248785DNAH5n.1091C>A
c.13758C>A (p.Ile4586=)
c.13713C>A (p.Ile4571=)
c.13866C>A (p.Ile4622=)
c.13446C>A (p.Ile4482=)
c.12771C>A (p.Ile4257=)
c.8955C>A (p.Ile2985=)
c.8508C>A (p.Ile2836=)
c.7845C>A (p.Ile2615=)
c.12360C>A (p.Ile4120=)

Number of alleles fetched