Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13870901_13870902delinsTACA1528476426DNAH5c.3699_3700delinsTA (p.Phe1233=)
c.3654_3655delinsTA (p.Phe1218=)
n.3906_3907delinsTA
c.3807_3808delinsTA (p.Phe1269=)
c.2712_2713delinsTA (p.Phe904=)
c.2301_2302delinsTA (p.Phe767=)
n.3824_3825delinsTA
5g.13870902A>CCA359231987DNAH5c.3699T>G (p.Phe1233Leu)
c.3654T>G (p.Phe1218Leu)
n.3906T>G
c.3807T>G (p.Phe1269Leu)
c.2712T>G (p.Phe904Leu)
c.2301T>G (p.Phe767Leu)
n.3824T>G
5g.13870902A>GCA443535347DNAH5c.3699T>C (p.Phe1233=)
c.3654T>C (p.Phe1218=)
n.3906T>C
c.3807T>C (p.Phe1269=)
c.2712T>C (p.Phe904=)
c.2301T>C (p.Phe767=)
n.3824T>C
 gnomAD v4
5g.13870902A>TCA359231988DNAH5c.3699T>A (p.Phe1233Leu)
c.3654T>A (p.Phe1218Leu)
n.3906T>A
c.3807T>A (p.Phe1269Leu)
c.2712T>A (p.Phe904Leu)
c.2301T>A (p.Phe767Leu)
n.3824T>A
5g.13870906delCA557876802DNAH5c.3699del (p.Phe1233LeufsTer11)
c.3654del (p.Phe1218LeufsTer11)
n.3906del
c.3807del (p.Phe1269LeufsTer11)
c.2712del (p.Phe904LeufsTer11)
c.2301del (p.Phe767LeufsTer11)
n.3824del
 dbSNP gnomAD v2 gnomAD v4
5g.13870903A=CA1528476433DNAH5c.3698T= (p.Phe1233=)
c.3653T= (p.Phe1218=)
n.3905T=
c.3806T= (p.Phe1269=)
c.2711T= (p.Phe904=)
c.2300T= (p.Phe767=)
n.3823T=
5g.13870903A>CCA359231990DNAH5c.3698T>G (p.Phe1233Cys)
c.3653T>G (p.Phe1218Cys)
n.3905T>G
c.3806T>G (p.Phe1269Cys)
c.2711T>G (p.Phe904Cys)
c.2300T>G (p.Phe767Cys)
n.3823T>G
 dbSNP gnomAD v2 gnomAD v4
5g.13870903A>GCA359231991DNAH5c.3698T>C (p.Phe1233Ser)
c.3653T>C (p.Phe1218Ser)
n.3905T>C
c.3806T>C (p.Phe1269Ser)
c.2711T>C (p.Phe904Ser)
c.2300T>C (p.Phe767Ser)
n.3823T>C
5g.13870903A>TCA359231993DNAH5c.3698T>A (p.Phe1233Tyr)
c.3653T>A (p.Phe1218Tyr)
n.3905T>A
c.3806T>A (p.Phe1269Tyr)
c.2711T>A (p.Phe904Tyr)
c.2300T>A (p.Phe767Tyr)
n.3823T>A
5g.13870904A>CCA359231994DNAH5c.3697T>G (p.Phe1233Val)
c.3652T>G (p.Phe1218Val)
n.3904T>G
c.3805T>G (p.Phe1269Val)
c.2710T>G (p.Phe904Val)
c.2299T>G (p.Phe767Val)
n.3822T>G
5g.13870904A>GCA359231995DNAH5c.3697T>C (p.Phe1233Leu)
c.3652T>C (p.Phe1218Leu)
n.3904T>C
c.3805T>C (p.Phe1269Leu)
c.2710T>C (p.Phe904Leu)
c.2299T>C (p.Phe767Leu)
n.3822T>C
5g.13870904A>TCA359231996DNAH5c.3697T>A (p.Phe1233Ile)
c.3652T>A (p.Phe1218Ile)
n.3904T>A
c.3805T>A (p.Phe1269Ile)
c.2710T>A (p.Phe904Ile)
c.2299T>A (p.Phe767Ile)
n.3822T>A
5g.13870905A=CA1528476435DNAH5c.3696T= (p.Ile1232=)
c.3651T= (p.Ile1217=)
n.3903T=
c.3804T= (p.Ile1268=)
c.2709T= (p.Ile903=)
c.2298T= (p.Ile766=)
n.3821T=
5g.13870905A>CCA359231997DNAH5c.3696T>G (p.Ile1232Met)
c.3651T>G (p.Ile1217Met)
n.3903T>G
c.3804T>G (p.Ile1268Met)
c.2709T>G (p.Ile903Met)
c.2298T>G (p.Ile766Met)
n.3821T>G
5g.13870905A>GCA443535349DNAH5c.3696T>C (p.Ile1232=)
c.3651T>C (p.Ile1217=)
n.3903T>C
c.3804T>C (p.Ile1268=)
c.2709T>C (p.Ile903=)
c.2298T>C (p.Ile766=)
n.3821T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870905A>TCA443535348DNAH5c.3696T>A (p.Ile1232=)
c.3651T>A (p.Ile1217=)
n.3903T>A
c.3804T>A (p.Ile1268=)
c.2709T>A (p.Ile903=)
c.2298T>A (p.Ile766=)
n.3821T>A
5g.13870906A>CCA359231998DNAH5c.3695T>G (p.Ile1232Ser)
c.3650T>G (p.Ile1217Ser)
n.3902T>G
c.3803T>G (p.Ile1268Ser)
c.2708T>G (p.Ile903Ser)
c.2297T>G (p.Ile766Ser)
n.3820T>G
5g.13870906A>GCA359231999DNAH5c.3695T>C (p.Ile1232Thr)
c.3650T>C (p.Ile1217Thr)
n.3902T>C
c.3803T>C (p.Ile1268Thr)
c.2708T>C (p.Ile903Thr)
c.2297T>C (p.Ile766Thr)
n.3820T>C
5g.13870906A>TCA359232002DNAH5c.3695T>A (p.Ile1232Asn)
c.3650T>A (p.Ile1217Asn)
n.3902T>A
c.3803T>A (p.Ile1268Asn)
c.2708T>A (p.Ile903Asn)
c.2297T>A (p.Ile766Asn)
n.3820T>A
5g.13870907T>ACA359232004DNAH5c.3694A>T (p.Ile1232Phe)
c.3649A>T (p.Ile1217Phe)
n.3901A>T
c.3802A>T (p.Ile1268Phe)
c.2707A>T (p.Ile903Phe)
c.2296A>T (p.Ile766Phe)
n.3819A>T
5g.13870907T>CCA359232005DNAH5c.3694A>G (p.Ile1232Val)
c.3649A>G (p.Ile1217Val)
n.3901A>G
c.3802A>G (p.Ile1268Val)
c.2707A>G (p.Ile903Val)
c.2296A>G (p.Ile766Val)
n.3819A>G
5g.13870907T>GCA359232006DNAH5c.3694A>C (p.Ile1232Leu)
c.3649A>C (p.Ile1217Leu)
n.3901A>C
c.3802A>C (p.Ile1268Leu)
c.2707A>C (p.Ile903Leu)
c.2296A>C (p.Ile766Leu)
n.3819A>C
5g.13870908G>ACA113981384DNAH5c.3693C>T (p.Asn1231=)
c.3648C>T (p.Asn1216=)
n.3900C>T
c.3801C>T (p.Asn1267=)
c.2706C>T (p.Asn902=)
c.2295C>T (p.Asn765=)
n.3818C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870908G>CCA359232008DNAH5c.3693C>G (p.Asn1231Lys)
c.3648C>G (p.Asn1216Lys)
n.3900C>G
c.3801C>G (p.Asn1267Lys)
c.2706C>G (p.Asn902Lys)
c.2295C>G (p.Asn765Lys)
n.3818C>G
 gnomAD v4
5g.13870908G=CA1528476438DNAH5c.3693C= (p.Asn1231=)
c.3648C= (p.Asn1216=)
n.3900C=
c.3801C= (p.Asn1267=)
c.2706C= (p.Asn902=)
c.2295C= (p.Asn765=)
n.3818C=
5g.13870908G>TCA359232010DNAH5c.3693C>A (p.Asn1231Lys)
c.3648C>A (p.Asn1216Lys)
n.3900C>A
c.3801C>A (p.Asn1267Lys)
c.2706C>A (p.Asn902Lys)
c.2295C>A (p.Asn765Lys)
n.3818C>A
 gnomAD v4
5g.13870909T>ACA359232011DNAH5c.3692A>T (p.Asn1231Ile)
c.3647A>T (p.Asn1216Ile)
n.3899A>T
c.3800A>T (p.Asn1267Ile)
c.2705A>T (p.Asn902Ile)
c.2294A>T (p.Asn765Ile)
n.3817A>T
5g.13870909T>CCA359232013DNAH5c.3692A>G (p.Asn1231Ser)
c.3647A>G (p.Asn1216Ser)
n.3899A>G
c.3800A>G (p.Asn1267Ser)
c.2705A>G (p.Asn902Ser)
c.2294A>G (p.Asn765Ser)
n.3817A>G
 dbSNP gnomAD v4
5g.13870909T>GCA359232014DNAH5c.3692A>C (p.Asn1231Thr)
c.3647A>C (p.Asn1216Thr)
n.3899A>C
c.3800A>C (p.Asn1267Thr)
c.2705A>C (p.Asn902Thr)
c.2294A>C (p.Asn765Thr)
n.3817A>C
5g.13870909T=CA1528476440DNAH5c.3692A= (p.Asn1231=)
c.3647A= (p.Asn1216=)
n.3899A=
c.3800A= (p.Asn1267=)
c.2705A= (p.Asn902=)
c.2294A= (p.Asn765=)
n.3817A=
5g.13870910T>ACA359232015DNAH5c.3691A>T (p.Asn1231Tyr)
c.3646A>T (p.Asn1216Tyr)
n.3898A>T
c.3799A>T (p.Asn1267Tyr)
c.2704A>T (p.Asn902Tyr)
c.2293A>T (p.Asn765Tyr)
n.3816A>T
5g.13870910T>CCA359232017DNAH5c.3691A>G (p.Asn1231Asp)
c.3646A>G (p.Asn1216Asp)
n.3898A>G
c.3799A>G (p.Asn1267Asp)
c.2704A>G (p.Asn902Asp)
c.2293A>G (p.Asn765Asp)
n.3816A>G
5g.13870910T>GCA359232018DNAH5c.3691A>C (p.Asn1231His)
c.3646A>C (p.Asn1216His)
n.3898A>C
c.3799A>C (p.Asn1267His)
c.2704A>C (p.Asn902His)
c.2293A>C (p.Asn765His)
n.3816A>C
5g.13870911T>ACA359232020DNAH5c.3690A>T (p.Glu1230Asp)
c.3645A>T (p.Glu1215Asp)
n.3897A>T
c.3798A>T (p.Glu1266Asp)
c.2703A>T (p.Glu901Asp)
c.2292A>T (p.Glu764Asp)
n.3815A>T
5g.13870911T>CCA443535350DNAH5c.3690A>G (p.Glu1230=)
c.3645A>G (p.Glu1215=)
n.3897A>G
c.3798A>G (p.Glu1266=)
c.2703A>G (p.Glu901=)
c.2292A>G (p.Glu764=)
n.3815A>G
5g.13870911T>GCA359232021DNAH5c.3690A>C (p.Glu1230Asp)
c.3645A>C (p.Glu1215Asp)
n.3897A>C
c.3798A>C (p.Glu1266Asp)
c.2703A>C (p.Glu901Asp)
c.2292A>C (p.Glu764Asp)
n.3815A>C
5g.13870912T>ACA359232023DNAH5c.3689A>T (p.Glu1230Val)
c.3644A>T (p.Glu1215Val)
n.3896A>T
c.3797A>T (p.Glu1266Val)
c.2702A>T (p.Glu901Val)
c.2291A>T (p.Glu764Val)
n.3814A>T
5g.13870912T>CCA359232024DNAH5c.3689A>G (p.Glu1230Gly)
c.3644A>G (p.Glu1215Gly)
n.3896A>G
c.3797A>G (p.Glu1266Gly)
c.2702A>G (p.Glu901Gly)
c.2291A>G (p.Glu764Gly)
n.3814A>G
 dbSNP
5g.13870912T>GCA359232025DNAH5c.3689A>C (p.Glu1230Ala)
c.3644A>C (p.Glu1215Ala)
n.3896A>C
c.3797A>C (p.Glu1266Ala)
c.2702A>C (p.Glu901Ala)
c.2291A>C (p.Glu764Ala)
n.3814A>C
5g.13870912T=CA1528476442DNAH5c.3689A= (p.Glu1230=)
c.3644A= (p.Glu1215=)
n.3896A=
c.3797A= (p.Glu1266=)
c.2702A= (p.Glu901=)
c.2291A= (p.Glu764=)
n.3814A=
5g.13870913C>ACA359232027DNAH5c.3688G>T (p.Glu1230Ter)
c.3643G>T (p.Glu1215Ter)
n.3895G>T
c.3796G>T (p.Glu1266Ter)
c.2701G>T (p.Glu901Ter)
c.2290G>T (p.Glu764Ter)
n.3813G>T
 COSMIC
5g.13870913C=CA1528476443DNAH5c.3688G= (p.Glu1230=)
c.3643G= (p.Glu1215=)
n.3895G=
c.3796G= (p.Glu1266=)
c.2701G= (p.Glu901=)
c.2290G= (p.Glu764=)
n.3813G=
5g.13870913C>GCA359232029DNAH5c.3688G>C (p.Glu1230Gln)
c.3643G>C (p.Glu1215Gln)
n.3895G>C
c.3796G>C (p.Glu1266Gln)
c.2701G>C (p.Glu901Gln)
c.2290G>C (p.Glu764Gln)
n.3813G>C
5g.13870913C>TCA359232026DNAH5c.3688G>A (p.Glu1230Lys)
c.3643G>A (p.Glu1215Lys)
n.3895G>A
c.3796G>A (p.Glu1266Lys)
c.2701G>A (p.Glu901Lys)
c.2290G>A (p.Glu764Lys)
n.3813G>A
 dbSNP
5g.13870914C>ACA359232034DNAH5c.3687G>T (p.Met1229Ile)
c.3642G>T (p.Met1214Ile)
n.3894G>T
c.3795G>T (p.Met1265Ile)
c.2700G>T (p.Met900Ile)
c.2289G>T (p.Met763Ile)
n.3812G>T
5g.13870914C>GCA359232036DNAH5c.3687G>C (p.Met1229Ile)
c.3642G>C (p.Met1214Ile)
n.3894G>C
c.3795G>C (p.Met1265Ile)
c.2700G>C (p.Met900Ile)
c.2289G>C (p.Met763Ile)
n.3812G>C
5g.13870914C>TCA359232045DNAH5c.3687G>A (p.Met1229Ile)
c.3642G>A (p.Met1214Ile)
n.3894G>A
c.3795G>A (p.Met1265Ile)
c.2700G>A (p.Met900Ile)
c.2289G>A (p.Met763Ile)
n.3812G>A
5g.13870915A>CCA359232048DNAH5c.3686T>G (p.Met1229Arg)
c.3641T>G (p.Met1214Arg)
n.3893T>G
c.3794T>G (p.Met1265Arg)
c.2699T>G (p.Met900Arg)
c.2288T>G (p.Met763Arg)
n.3811T>G
5g.13870915A>GCA359232050DNAH5c.3686T>C (p.Met1229Thr)
c.3641T>C (p.Met1214Thr)
n.3893T>C
c.3794T>C (p.Met1265Thr)
c.2699T>C (p.Met900Thr)
c.2288T>C (p.Met763Thr)
n.3811T>C
 gnomAD v4
5g.13870915A>TCA359232052DNAH5c.3686T>A (p.Met1229Lys)
c.3641T>A (p.Met1214Lys)
n.3893T>A
c.3794T>A (p.Met1265Lys)
c.2699T>A (p.Met900Lys)
c.2288T>A (p.Met763Lys)
n.3811T>A
 gnomAD v4 COSMIC
5g.13870916T>ACA359232054DNAH5c.3685A>T (p.Met1229Leu)
c.3640A>T (p.Met1214Leu)
n.3892A>T
c.3793A>T (p.Met1265Leu)
c.2698A>T (p.Met900Leu)
c.2287A>T (p.Met763Leu)
n.3810A>T
5g.13870916T>CCA359232055DNAH5c.3685A>G (p.Met1229Val)
c.3640A>G (p.Met1214Val)
n.3892A>G
c.3793A>G (p.Met1265Val)
c.2698A>G (p.Met900Val)
c.2287A>G (p.Met763Val)
n.3810A>G
5g.13870916T>GCA359232058DNAH5c.3685A>C (p.Met1229Leu)
c.3640A>C (p.Met1214Leu)
n.3892A>C
c.3793A>C (p.Met1265Leu)
c.2698A>C (p.Met900Leu)
c.2287A>C (p.Met763Leu)
n.3810A>C
5g.13870917C>ACA359232059DNAH5c.3684G>T (p.Glu1228Asp)
c.3639G>T (p.Glu1213Asp)
n.3891G>T
c.3792G>T (p.Glu1264Asp)
c.2697G>T (p.Glu899Asp)
c.2286G>T (p.Glu762Asp)
n.3809G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870917C=CA1528476446DNAH5c.3684G= (p.Glu1228=)
c.3639G= (p.Glu1213=)
n.3891G=
c.3792G= (p.Glu1264=)
c.2697G= (p.Glu899=)
c.2286G= (p.Glu762=)
n.3809G=
5g.13870917C>GCA359232061DNAH5c.3684G>C (p.Glu1228Asp)
c.3639G>C (p.Glu1213Asp)
n.3891G>C
c.3792G>C (p.Glu1264Asp)
c.2697G>C (p.Glu899Asp)
c.2286G>C (p.Glu762Asp)
n.3809G>C
5g.13870917C>TCA3204195DNAH5c.3684G>A (p.Glu1228=)
c.3639G>A (p.Glu1213=)
n.3891G>A
c.3792G>A (p.Glu1264=)
c.2697G>A (p.Glu899=)
c.2286G>A (p.Glu762=)
n.3809G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870918T>ACA3204196DNAH5c.3683A>T (p.Glu1228Val)
c.3638A>T (p.Glu1213Val)
n.3890A>T
c.3791A>T (p.Glu1264Val)
c.2696A>T (p.Glu899Val)
c.2285A>T (p.Glu762Val)
n.3808A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870918T>CCA359232068DNAH5c.3683A>G (p.Glu1228Gly)
c.3638A>G (p.Glu1213Gly)
n.3890A>G
c.3791A>G (p.Glu1264Gly)
c.2696A>G (p.Glu899Gly)
c.2285A>G (p.Glu762Gly)
n.3808A>G
5g.13870918T>GCA359232065DNAH5c.3683A>C (p.Glu1228Ala)
c.3638A>C (p.Glu1213Ala)
n.3890A>C
c.3791A>C (p.Glu1264Ala)
c.2696A>C (p.Glu899Ala)
c.2285A>C (p.Glu762Ala)
n.3808A>C
5g.13870918T=CA1528476449DNAH5c.3683A= (p.Glu1228=)
c.3638A= (p.Glu1213=)
n.3890A=
c.3791A= (p.Glu1264=)
c.2696A= (p.Glu899=)
c.2285A= (p.Glu762=)
n.3808A=
5g.13870919C>ACA359232073DNAH5c.3682G>T (p.Glu1228Ter)
c.3637G>T (p.Glu1213Ter)
n.3889G>T
c.3790G>T (p.Glu1264Ter)
c.2695G>T (p.Glu899Ter)
c.2284G>T (p.Glu762Ter)
n.3807G>T
5g.13870919C>GCA359232076DNAH5c.3682G>C (p.Glu1228Gln)
c.3637G>C (p.Glu1213Gln)
n.3889G>C
c.3790G>C (p.Glu1264Gln)
c.2695G>C (p.Glu899Gln)
c.2284G>C (p.Glu762Gln)
n.3807G>C
5g.13870919C>TCA359232077DNAH5c.3682G>A (p.Glu1228Lys)
c.3637G>A (p.Glu1213Lys)
n.3889G>A
c.3790G>A (p.Glu1264Lys)
c.2695G>A (p.Glu899Lys)
c.2284G>A (p.Glu762Lys)
n.3807G>A
5g.13870920A=CA1528476452DNAH5c.3681T= (p.Ser1227=)
c.3636T= (p.Ser1212=)
n.3888T=
c.3789T= (p.Ser1263=)
c.2694T= (p.Ser898=)
c.2283T= (p.Ser761=)
n.3806T=
5g.13870920A>CCA3204197DNAH5c.3681T>G (p.Ser1227Arg)
c.3636T>G (p.Ser1212Arg)
n.3888T>G
c.3789T>G (p.Ser1263Arg)
c.2694T>G (p.Ser898Arg)
c.2283T>G (p.Ser761Arg)
n.3806T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870920A>GCA443535351DNAH5c.3681T>C (p.Ser1227=)
c.3636T>C (p.Ser1212=)
n.3888T>C
c.3789T>C (p.Ser1263=)
c.2694T>C (p.Ser898=)
c.2283T>C (p.Ser761=)
n.3806T>C
 ClinVar dbSNP gnomAD v4
5g.13870920A>TCA359232082DNAH5c.3681T>A (p.Ser1227Arg)
c.3636T>A (p.Ser1212Arg)
n.3888T>A
c.3789T>A (p.Ser1263Arg)
c.2694T>A (p.Ser898Arg)
c.2283T>A (p.Ser761Arg)
n.3806T>A
5g.13870921C>ACA359232089DNAH5c.3680G>T (p.Ser1227Ile)
c.3635G>T (p.Ser1212Ile)
n.3887G>T
c.3788G>T (p.Ser1263Ile)
c.2693G>T (p.Ser898Ile)
c.2282G>T (p.Ser761Ile)
n.3805G>T
5g.13870921C>GCA359232085DNAH5c.3680G>C (p.Ser1227Thr)
c.3635G>C (p.Ser1212Thr)
n.3887G>C
c.3788G>C (p.Ser1263Thr)
c.2693G>C (p.Ser898Thr)
c.2282G>C (p.Ser761Thr)
n.3805G>C
5g.13870921C>TCA359232087DNAH5c.3680G>A (p.Ser1227Asn)
c.3635G>A (p.Ser1212Asn)
n.3887G>A
c.3788G>A (p.Ser1263Asn)
c.2693G>A (p.Ser898Asn)
c.2282G>A (p.Ser761Asn)
n.3805G>A
5g.13870922T>ACA359232091DNAH5c.3679A>T (p.Ser1227Cys)
c.3634A>T (p.Ser1212Cys)
n.3886A>T
c.3787A>T (p.Ser1263Cys)
c.2692A>T (p.Ser898Cys)
c.2281A>T (p.Ser761Cys)
n.3804A>T
5g.13870922T>CCA359232093DNAH5c.3679A>G (p.Ser1227Gly)
c.3634A>G (p.Ser1212Gly)
n.3886A>G
c.3787A>G (p.Ser1263Gly)
c.2692A>G (p.Ser898Gly)
c.2281A>G (p.Ser761Gly)
n.3804A>G
5g.13870922T>GCA359232094DNAH5c.3679A>C (p.Ser1227Arg)
c.3634A>C (p.Ser1212Arg)
n.3886A>C
c.3787A>C (p.Ser1263Arg)
c.2692A>C (p.Ser898Arg)
c.2281A>C (p.Ser761Arg)
n.3804A>C
 gnomAD v4
5g.13870923C>ACA443535352DNAH5c.3678G>T (p.Arg1226=)
c.3633G>T (p.Arg1211=)
n.3885G>T
c.3786G>T (p.Arg1262=)
c.2691G>T (p.Arg897=)
c.2280G>T (p.Arg760=)
n.3803G>T
5g.13870923C>GCA443535353DNAH5c.3678G>C (p.Arg1226=)
c.3633G>C (p.Arg1211=)
n.3885G>C
c.3786G>C (p.Arg1262=)
c.2691G>C (p.Arg897=)
c.2280G>C (p.Arg760=)
n.3803G>C
5g.13870923C>TCA443535354DNAH5c.3678G>A (p.Arg1226=)
c.3633G>A (p.Arg1211=)
n.3885G>A
c.3786G>A (p.Arg1262=)
c.2691G>A (p.Arg897=)
c.2280G>A (p.Arg760=)
n.3803G>A
 gnomAD v4
5g.13870924C>ACA359232097DNAH5c.3677G>T (p.Arg1226Leu)
c.3632G>T (p.Arg1211Leu)
n.3884G>T
c.3785G>T (p.Arg1262Leu)
c.2690G>T (p.Arg897Leu)
c.2279G>T (p.Arg760Leu)
n.3802G>T
5g.13870924C=CA1528476453DNAH5c.3677G= (p.Arg1226=)
c.3632G= (p.Arg1211=)
n.3884G=
c.3785G= (p.Arg1262=)
c.2690G= (p.Arg897=)
c.2279G= (p.Arg760=)
n.3802G=
5g.13870924C>GCA359232100DNAH5c.3677G>C (p.Arg1226Pro)
c.3632G>C (p.Arg1211Pro)
n.3884G>C
c.3785G>C (p.Arg1262Pro)
c.2690G>C (p.Arg897Pro)
c.2279G>C (p.Arg760Pro)
n.3802G>C
 dbSNP gnomAD v3 gnomAD v4
5g.13870924C>TCA3204198DNAH5c.3677G>A (p.Arg1226Gln)
c.3632G>A (p.Arg1211Gln)
n.3884G>A
c.3785G>A (p.Arg1262Gln)
c.2690G>A (p.Arg897Gln)
c.2279G>A (p.Arg760Gln)
n.3802G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870925G>ACA3204199DNAH5c.3676C>T (p.Arg1226Trp)
c.3631C>T (p.Arg1211Trp)
n.3883C>T
c.3784C>T (p.Arg1262Trp)
c.2689C>T (p.Arg897Trp)
c.2278C>T (p.Arg760Trp)
n.3801C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870925G>CCA359232104DNAH5c.3676C>G (p.Arg1226Gly)
c.3631C>G (p.Arg1211Gly)
n.3883C>G
c.3784C>G (p.Arg1262Gly)
c.2689C>G (p.Arg897Gly)
c.2278C>G (p.Arg760Gly)
n.3801C>G
5g.13870925G=CA1528476457DNAH5c.3676C= (p.Arg1226=)
c.3631C= (p.Arg1211=)
n.3883C=
c.3784C= (p.Arg1262=)
c.2689C= (p.Arg897=)
c.2278C= (p.Arg760=)
n.3801C=
5g.13870925G>TCA443535355DNAH5c.3676C>A (p.Arg1226=)
c.3631C>A (p.Arg1211=)
n.3883C>A
c.3784C>A (p.Arg1262=)
c.2689C>A (p.Arg897=)
c.2278C>A (p.Arg760=)
n.3801C>A
5g.13870926G>ACA3204201DNAH5c.3675C>T (p.Tyr1225=)
c.3630C>T (p.Tyr1210=)
n.3882C>T
c.3783C>T (p.Tyr1261=)
c.2688C>T (p.Tyr896=)
c.2277C>T (p.Tyr759=)
n.3800C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870926G>CCA3204200DNAH5c.3675C>G (p.Tyr1225Ter)
c.3630C>G (p.Tyr1210Ter)
n.3882C>G
c.3783C>G (p.Tyr1261Ter)
c.2688C>G (p.Tyr896Ter)
c.2277C>G (p.Tyr759Ter)
n.3800C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870926G=CA1528476461DNAH5c.3675C= (p.Tyr1225=)
c.3630C= (p.Tyr1210=)
n.3882C=
c.3783C= (p.Tyr1261=)
c.2688C= (p.Tyr896=)
c.2277C= (p.Tyr759=)
n.3800C=
5g.13870926G>TCA359232108DNAH5c.3675C>A (p.Tyr1225Ter)
c.3630C>A (p.Tyr1210Ter)
n.3882C>A
c.3783C>A (p.Tyr1261Ter)
c.2688C>A (p.Tyr896Ter)
c.2277C>A (p.Tyr759Ter)
n.3800C>A
5g.13870927T>ACA359232111DNAH5c.3674A>T (p.Tyr1225Phe)
c.3629A>T (p.Tyr1210Phe)
n.3881A>T
c.3782A>T (p.Tyr1261Phe)
c.2687A>T (p.Tyr896Phe)
c.2276A>T (p.Tyr759Phe)
n.3799A>T
 dbSNP gnomAD v2 gnomAD v4
5g.13870927T>CCA359232116DNAH5c.3674A>G (p.Tyr1225Cys)
c.3629A>G (p.Tyr1210Cys)
n.3881A>G
c.3782A>G (p.Tyr1261Cys)
c.2687A>G (p.Tyr896Cys)
c.2276A>G (p.Tyr759Cys)
n.3799A>G
5g.13870927T>GCA359232114DNAH5c.3674A>C (p.Tyr1225Ser)
c.3629A>C (p.Tyr1210Ser)
n.3881A>C
c.3782A>C (p.Tyr1261Ser)
c.2687A>C (p.Tyr896Ser)
c.2276A>C (p.Tyr759Ser)
n.3799A>C
5g.13870927T=CA1528476464DNAH5c.3674A= (p.Tyr1225=)
c.3629A= (p.Tyr1210=)
n.3881A=
c.3782A= (p.Tyr1261=)
c.2687A= (p.Tyr896=)
c.2276A= (p.Tyr759=)
n.3799A=
5g.13870928A>CCA359232118DNAH5c.3673T>G (p.Tyr1225Asp)
c.3628T>G (p.Tyr1210Asp)
n.3880T>G
c.3781T>G (p.Tyr1261Asp)
c.2686T>G (p.Tyr896Asp)
c.2275T>G (p.Tyr759Asp)
n.3798T>G
5g.13870928A>GCA359232122DNAH5c.3673T>C (p.Tyr1225His)
c.3628T>C (p.Tyr1210His)
n.3880T>C
c.3781T>C (p.Tyr1261His)
c.2686T>C (p.Tyr896His)
c.2275T>C (p.Tyr759His)
n.3798T>C
5g.13870928A>TCA359232121DNAH5c.3673T>A (p.Tyr1225Asn)
c.3628T>A (p.Tyr1210Asn)
n.3880T>A
c.3781T>A (p.Tyr1261Asn)
c.2686T>A (p.Tyr896Asn)
c.2275T>A (p.Tyr759Asn)
n.3798T>A
5g.13870929T>ACA359232126DNAH5c.3672A>T (p.Lys1224Asn)
c.3627A>T (p.Lys1209Asn)
n.3879A>T
c.3780A>T (p.Lys1260Asn)
c.2685A>T (p.Lys895Asn)
c.2274A>T (p.Lys758Asn)
n.3797A>T
5g.13870929T>CCA443535356DNAH5c.3672A>G (p.Lys1224=)
c.3627A>G (p.Lys1209=)
n.3879A>G
c.3780A>G (p.Lys1260=)
c.2685A>G (p.Lys895=)
c.2274A>G (p.Lys758=)
n.3797A>G
 dbSNP
5g.13870929T>GCA359232127DNAH5c.3672A>C (p.Lys1224Asn)
c.3627A>C (p.Lys1209Asn)
n.3879A>C
c.3780A>C (p.Lys1260Asn)
c.2685A>C (p.Lys895Asn)
c.2274A>C (p.Lys758Asn)
n.3797A>C
 dbSNP gnomAD v3 gnomAD v4
5g.13870929T=CA1528476466DNAH5c.3672A= (p.Lys1224=)
c.3627A= (p.Lys1209=)
n.3879A=
c.3780A= (p.Lys1260=)
c.2685A= (p.Lys895=)
c.2274A= (p.Lys758=)
n.3797A=
5g.13870930T>ACA359232128DNAH5c.3671A>T (p.Lys1224Ile)
c.3626A>T (p.Lys1209Ile)
n.3878A>T
c.3779A>T (p.Lys1260Ile)
c.2684A>T (p.Lys895Ile)
c.2273A>T (p.Lys758Ile)
n.3796A>T
5g.13870930T>CCA359232130DNAH5c.3671A>G (p.Lys1224Arg)
c.3626A>G (p.Lys1209Arg)
n.3878A>G
c.3779A>G (p.Lys1260Arg)
c.2684A>G (p.Lys895Arg)
c.2273A>G (p.Lys758Arg)
n.3796A>G
 ClinVar dbSNP
5g.13870930T>GCA359232133DNAH5c.3671A>C (p.Lys1224Thr)
c.3626A>C (p.Lys1209Thr)
n.3878A>C
c.3779A>C (p.Lys1260Thr)
c.2684A>C (p.Lys895Thr)
c.2273A>C (p.Lys758Thr)
n.3796A>C
5g.13870930T=CA1528476470DNAH5c.3671A= (p.Lys1224=)
c.3626A= (p.Lys1209=)
n.3878A=
c.3779A= (p.Lys1260=)
c.2684A= (p.Lys895=)
c.2273A= (p.Lys758=)
n.3796A=
5g.13870931T>ACA359232135DNAH5c.3670A>T (p.Lys1224Ter)
c.3625A>T (p.Lys1209Ter)
n.3877A>T
c.3778A>T (p.Lys1260Ter)
c.2683A>T (p.Lys895Ter)
c.2272A>T (p.Lys758Ter)
n.3795A>T
5g.13870931T>CCA359232136DNAH5c.3670A>G (p.Lys1224Glu)
c.3625A>G (p.Lys1209Glu)
n.3877A>G
c.3778A>G (p.Lys1260Glu)
c.2683A>G (p.Lys895Glu)
c.2272A>G (p.Lys758Glu)
n.3795A>G
5g.13870931T>GCA359232138DNAH5c.3670A>C (p.Lys1224Gln)
c.3625A>C (p.Lys1209Gln)
n.3877A>C
c.3778A>C (p.Lys1260Gln)
c.2683A>C (p.Lys895Gln)
c.2272A>C (p.Lys758Gln)
n.3795A>C
5g.13870931_13870932insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGACA2765350518DNAH5c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT (p.Lys1224SerfsTer20)
c.3624_3625insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT (p.Lys1209SerfsTer20)
n.3876_3877insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT (p.Lys1260SerfsTer20)
c.2682_2683insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT (p.Lys895SerfsTer20)
c.2271_2272insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT (p.Lys758SerfsTer20)
n.3794_3795insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
5g.13870932T>ACA359232140DNAH5c.3669A>T (p.Lys1223Asn)
c.3624A>T (p.Lys1208Asn)
n.3876A>T
c.3777A>T (p.Lys1259Asn)
c.2682A>T (p.Lys894Asn)
c.2271A>T (p.Lys757Asn)
n.3794A>T
 ClinVar
5g.13870932T>CCA443535357DNAH5c.3669A>G (p.Lys1223=)
c.3624A>G (p.Lys1208=)
n.3876A>G
c.3777A>G (p.Lys1259=)
c.2682A>G (p.Lys894=)
c.2271A>G (p.Lys757=)
n.3794A>G
5g.13870932T>GCA359232142DNAH5c.3669A>C (p.Lys1223Asn)
c.3624A>C (p.Lys1208Asn)
n.3876A>C
c.3777A>C (p.Lys1259Asn)
c.2682A>C (p.Lys894Asn)
c.2271A>C (p.Lys757Asn)
n.3794A>C
5g.13870933T>ACA359232146DNAH5c.3668A>T (p.Lys1223Ile)
c.3623A>T (p.Lys1208Ile)
n.3875A>T
c.3776A>T (p.Lys1259Ile)
c.2681A>T (p.Lys894Ile)
c.2270A>T (p.Lys757Ile)
n.3793A>T
5g.13870933T>CCA359232144DNAH5c.3668A>G (p.Lys1223Arg)
c.3623A>G (p.Lys1208Arg)
n.3875A>G
c.3776A>G (p.Lys1259Arg)
c.2681A>G (p.Lys894Arg)
c.2270A>G (p.Lys757Arg)
n.3793A>G
5g.13870933T>GCA359232143DNAH5c.3668A>C (p.Lys1223Thr)
c.3623A>C (p.Lys1208Thr)
n.3875A>C
c.3776A>C (p.Lys1259Thr)
c.2681A>C (p.Lys894Thr)
c.2270A>C (p.Lys757Thr)
n.3793A>C
5g.13870934T>ACA359232148DNAH5c.3667A>T (p.Lys1223Ter)
c.3622A>T (p.Lys1208Ter)
n.3874A>T
c.3775A>T (p.Lys1259Ter)
c.2680A>T (p.Lys894Ter)
c.2269A>T (p.Lys757Ter)
n.3792A>T
5g.13870934T>CCA359232151DNAH5c.3667A>G (p.Lys1223Glu)
c.3622A>G (p.Lys1208Glu)
n.3874A>G
c.3775A>G (p.Lys1259Glu)
c.2680A>G (p.Lys894Glu)
c.2269A>G (p.Lys757Glu)
n.3792A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870934T>GCA359232152DNAH5c.3667A>C (p.Lys1223Gln)
c.3622A>C (p.Lys1208Gln)
n.3874A>C
c.3775A>C (p.Lys1259Gln)
c.2680A>C (p.Lys894Gln)
c.2269A>C (p.Lys757Gln)
n.3792A>C
5g.13870934T=CA1528476477DNAH5c.3667A= (p.Lys1223=)
c.3622A= (p.Lys1208=)
n.3874A=
c.3775A= (p.Lys1259=)
c.2680A= (p.Lys894=)
c.2269A= (p.Lys757=)
n.3792A=
5g.13870935G>ACA3204202DNAH5c.3666C>T (p.Asn1222=)
c.3621C>T (p.Asn1207=)
n.3873C>T
c.3774C>T (p.Asn1258=)
c.2679C>T (p.Asn893=)
c.2268C>T (p.Asn756=)
n.3791C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870935G>CCA359232155DNAH5c.3666C>G (p.Asn1222Lys)
c.3621C>G (p.Asn1207Lys)
n.3873C>G
c.3774C>G (p.Asn1258Lys)
c.2679C>G (p.Asn893Lys)
c.2268C>G (p.Asn756Lys)
n.3791C>G
 dbSNP
5g.13870935G=CA1528476479DNAH5c.3666C= (p.Asn1222=)
c.3621C= (p.Asn1207=)
n.3873C=
c.3774C= (p.Asn1258=)
c.2679C= (p.Asn893=)
c.2268C= (p.Asn756=)
n.3791C=
5g.13870935G>TCA359232156DNAH5c.3666C>A (p.Asn1222Lys)
c.3621C>A (p.Asn1207Lys)
n.3873C>A
c.3774C>A (p.Asn1258Lys)
c.2679C>A (p.Asn893Lys)
c.2268C>A (p.Asn756Lys)
n.3791C>A
5g.13870936T>ACA3204203DNAH5c.3665A>T (p.Asn1222Ile)
c.3620A>T (p.Asn1207Ile)
n.3872A>T
c.3773A>T (p.Asn1258Ile)
c.2678A>T (p.Asn893Ile)
c.2267A>T (p.Asn756Ile)
n.3790A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870936T>CCA359232160DNAH5c.3665A>G (p.Asn1222Ser)
c.3620A>G (p.Asn1207Ser)
n.3872A>G
c.3773A>G (p.Asn1258Ser)
c.2678A>G (p.Asn893Ser)
c.2267A>G (p.Asn756Ser)
n.3790A>G
5g.13870936T>GCA359232161DNAH5c.3665A>C (p.Asn1222Thr)
c.3620A>C (p.Asn1207Thr)
n.3872A>C
c.3773A>C (p.Asn1258Thr)
c.2678A>C (p.Asn893Thr)
c.2267A>C (p.Asn756Thr)
n.3790A>C
5g.13870936T=CA1528476482DNAH5c.3665A= (p.Asn1222=)
c.3620A= (p.Asn1207=)
n.3872A=
c.3773A= (p.Asn1258=)
c.2678A= (p.Asn893=)
c.2267A= (p.Asn756=)
n.3790A=
5g.13870937T>ACA359232166DNAH5c.3664A>T (p.Asn1222Tyr)
c.3619A>T (p.Asn1207Tyr)
n.3871A>T
c.3772A>T (p.Asn1258Tyr)
c.2677A>T (p.Asn893Tyr)
c.2266A>T (p.Asn756Tyr)
n.3789A>T
5g.13870937T>CCA359232168DNAH5c.3664A>G (p.Asn1222Asp)
c.3619A>G (p.Asn1207Asp)
n.3871A>G
c.3772A>G (p.Asn1258Asp)
c.2677A>G (p.Asn893Asp)
c.2266A>G (p.Asn756Asp)
n.3789A>G
5g.13870937T>GCA359232169DNAH5c.3664A>C (p.Asn1222His)
c.3619A>C (p.Asn1207His)
n.3871A>C
c.3772A>C (p.Asn1258His)
c.2677A>C (p.Asn893His)
c.2266A>C (p.Asn756His)
n.3789A>C
5g.13870938A>CCA359232173DNAH5c.3663T>G (p.Cys1221Trp)
c.3618T>G (p.Cys1206Trp)
n.3870T>G
c.3771T>G (p.Cys1257Trp)
c.2676T>G (p.Cys892Trp)
c.2265T>G (p.Cys755Trp)
n.3788T>G
5g.13870938A>GCA443535358DNAH5c.3663T>C (p.Cys1221=)
c.3618T>C (p.Cys1206=)
n.3870T>C
c.3771T>C (p.Cys1257=)
c.2676T>C (p.Cys892=)
c.2265T>C (p.Cys755=)
n.3788T>C
5g.13870938A>TCA359232171DNAH5c.3663T>A (p.Cys1221Ter)
c.3618T>A (p.Cys1206Ter)
n.3870T>A
c.3771T>A (p.Cys1257Ter)
c.2676T>A (p.Cys892Ter)
c.2265T>A (p.Cys755Ter)
n.3788T>A
5g.13870939C>ACA359232176DNAH5c.3662G>T (p.Cys1221Phe)
c.3617G>T (p.Cys1206Phe)
n.3869G>T
c.3770G>T (p.Cys1257Phe)
c.2675G>T (p.Cys892Phe)
c.2264G>T (p.Cys755Phe)
n.3787G>T
 dbSNP
5g.13870939C=CA1528476484DNAH5c.3662G= (p.Cys1221=)
c.3617G= (p.Cys1206=)
n.3869G=
c.3770G= (p.Cys1257=)
c.2675G= (p.Cys892=)
c.2264G= (p.Cys755=)
n.3787G=
5g.13870939C>GCA359232178DNAH5c.3662G>C (p.Cys1221Ser)
c.3617G>C (p.Cys1206Ser)
n.3869G>C
c.3770G>C (p.Cys1257Ser)
c.2675G>C (p.Cys892Ser)
c.2264G>C (p.Cys755Ser)
n.3787G>C
5g.13870939C>TCA359232179DNAH5c.3662G>A (p.Cys1221Tyr)
c.3617G>A (p.Cys1206Tyr)
n.3869G>A
c.3770G>A (p.Cys1257Tyr)
c.2675G>A (p.Cys892Tyr)
c.2264G>A (p.Cys755Tyr)
n.3787G>A
5g.13870940A>CCA359232180DNAH5c.3661T>G (p.Cys1221Gly)
c.3616T>G (p.Cys1206Gly)
n.3868T>G
c.3769T>G (p.Cys1257Gly)
c.2674T>G (p.Cys892Gly)
c.2263T>G (p.Cys755Gly)
n.3786T>G
5g.13870940A>GCA359232182DNAH5c.3661T>C (p.Cys1221Arg)
c.3616T>C (p.Cys1206Arg)
n.3868T>C
c.3769T>C (p.Cys1257Arg)
c.2674T>C (p.Cys892Arg)
c.2263T>C (p.Cys755Arg)
n.3786T>C
5g.13870940A>TCA359232184DNAH5c.3661T>A (p.Cys1221Ser)
c.3616T>A (p.Cys1206Ser)
n.3868T>A
c.3769T>A (p.Cys1257Ser)
c.2674T>A (p.Cys892Ser)
c.2263T>A (p.Cys755Ser)
n.3786T>A
5g.13870940_13870941delinsAGCA1528476487DNAH5c.3660_3661delinsCT (p.His1220=)
c.3615_3616delinsCT (p.His1205=)
n.3867_3868delinsCT
c.3768_3769delinsCT (p.His1256=)
c.2673_2674delinsCT (p.His891=)
c.2262_2263delinsCT (p.His754=)
n.3785_3786delinsCT
5g.13870941delCA913108291DNAH5c.3660del (p.Cys1221ValfsTer23)
c.3615del (p.Cys1206ValfsTer23)
n.3867del
c.3768del (p.Cys1257ValfsTer23)
c.2673del (p.Cys892ValfsTer23)
c.2262del (p.Cys755ValfsTer23)
n.3785del
 ClinVar dbSNP
5g.13870941G>ACA443535359DNAH5c.3660C>T (p.His1220=)
c.3615C>T (p.His1205=)
n.3867C>T
c.3768C>T (p.His1256=)
c.2673C>T (p.His891=)
c.2262C>T (p.His754=)
n.3785C>T
5g.13870941G>CCA359232188DNAH5c.3660C>G (p.His1220Gln)
c.3615C>G (p.His1205Gln)
n.3867C>G
c.3768C>G (p.His1256Gln)
c.2673C>G (p.His891Gln)
c.2262C>G (p.His754Gln)
n.3785C>G
 dbSNP gnomAD v2 gnomAD v4
5g.13870941G=CA1528476493DNAH5c.3660C= (p.His1220=)
c.3615C= (p.His1205=)
n.3867C=
c.3768C= (p.His1256=)
c.2673C= (p.His891=)
c.2262C= (p.His754=)
n.3785C=
5g.13870941G>TCA359232186DNAH5c.3660C>A (p.His1220Gln)
c.3615C>A (p.His1205Gln)
n.3867C>A
c.3768C>A (p.His1256Gln)
c.2673C>A (p.His891Gln)
c.2262C>A (p.His754Gln)
n.3785C>A
5g.13870942T>ACA359232191DNAH5c.3659A>T (p.His1220Leu)
c.3614A>T (p.His1205Leu)
n.3866A>T
c.3767A>T (p.His1256Leu)
c.2672A>T (p.His891Leu)
c.2261A>T (p.His754Leu)
n.3784A>T
5g.13870942T>CCA359232192DNAH5c.3659A>G (p.His1220Arg)
c.3614A>G (p.His1205Arg)
n.3866A>G
c.3767A>G (p.His1256Arg)
c.2672A>G (p.His891Arg)
c.2261A>G (p.His754Arg)
n.3784A>G
5g.13870942T>GCA359232194DNAH5c.3659A>C (p.His1220Pro)
c.3614A>C (p.His1205Pro)
n.3866A>C
c.3767A>C (p.His1256Pro)
c.2672A>C (p.His891Pro)
c.2261A>C (p.His754Pro)
n.3784A>C
5g.13870943G>ACA359232198DNAH5c.3658C>T (p.His1220Tyr)
c.3613C>T (p.His1205Tyr)
n.3865C>T
c.3766C>T (p.His1256Tyr)
c.2671C>T (p.His891Tyr)
c.2260C>T (p.His754Tyr)
n.3783C>T
5g.13870943G>CCA359232199DNAH5c.3658C>G (p.His1220Asp)
c.3613C>G (p.His1205Asp)
n.3865C>G
c.3766C>G (p.His1256Asp)
c.2671C>G (p.His891Asp)
c.2260C>G (p.His754Asp)
n.3783C>G
5g.13870943G>TCA359232201DNAH5c.3658C>A (p.His1220Asn)
c.3613C>A (p.His1205Asn)
n.3865C>A
c.3766C>A (p.His1256Asn)
c.2671C>A (p.His891Asn)
c.2260C>A (p.His754Asn)
n.3783C>A
5g.13870944G>ACA443535360DNAH5c.3657C>T (p.Arg1219=)
c.3612C>T (p.Arg1204=)
n.3864C>T
c.3765C>T (p.Arg1255=)
c.2670C>T (p.Arg890=)
c.2259C>T (p.Arg753=)
n.3782C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870944G>CCA443535361DNAH5c.3657C>G (p.Arg1219=)
c.3612C>G (p.Arg1204=)
n.3864C>G
c.3765C>G (p.Arg1255=)
c.2670C>G (p.Arg890=)
c.2259C>G (p.Arg753=)
n.3782C>G
5g.13870944G=CA1528476497DNAH5c.3657C= (p.Arg1219=)
c.3612C= (p.Arg1204=)
n.3864C=
c.3765C= (p.Arg1255=)
c.2670C= (p.Arg890=)
c.2259C= (p.Arg753=)
n.3782C=
5g.13870944G>TCA443535362DNAH5c.3657C>A (p.Arg1219=)
c.3612C>A (p.Arg1204=)
n.3864C>A
c.3765C>A (p.Arg1255=)
c.2670C>A (p.Arg890=)
c.2259C>A (p.Arg753=)
n.3782C>A
5g.13870945C>ACA359232206DNAH5c.3656G>T (p.Arg1219Leu)
c.3611G>T (p.Arg1204Leu)
n.3863G>T
c.3764G>T (p.Arg1255Leu)
c.2669G>T (p.Arg890Leu)
c.2258G>T (p.Arg753Leu)
n.3781G>T
5g.13870945C=CA1528476502DNAH5c.3656G= (p.Arg1219=)
c.3611G= (p.Arg1204=)
n.3863G=
c.3764G= (p.Arg1255=)
c.2669G= (p.Arg890=)
c.2258G= (p.Arg753=)
n.3781G=
5g.13870945C>GCA359232211DNAH5c.3656G>C (p.Arg1219Pro)
c.3611G>C (p.Arg1204Pro)
n.3863G>C
c.3764G>C (p.Arg1255Pro)
c.2669G>C (p.Arg890Pro)
c.2258G>C (p.Arg753Pro)
n.3781G>C
 dbSNP
5g.13870945C>TCA3204204DNAH5c.3656G>A (p.Arg1219His)
c.3611G>A (p.Arg1204His)
n.3863G>A
c.3764G>A (p.Arg1255His)
c.2669G>A (p.Arg890His)
c.2258G>A (p.Arg753His)
n.3781G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870946G>ACA3204205DNAH5c.3655C>T (p.Arg1219Cys)
c.3610C>T (p.Arg1204Cys)
n.3862C>T
c.3763C>T (p.Arg1255Cys)
c.2668C>T (p.Arg890Cys)
c.2257C>T (p.Arg753Cys)
n.3780C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870946G>CCA359232214DNAH5c.3655C>G (p.Arg1219Gly)
c.3610C>G (p.Arg1204Gly)
n.3862C>G
c.3763C>G (p.Arg1255Gly)
c.2668C>G (p.Arg890Gly)
c.2257C>G (p.Arg753Gly)
n.3780C>G
5g.13870946G=CA1528476505DNAH5c.3655C= (p.Arg1219=)
c.3610C= (p.Arg1204=)
n.3862C=
c.3763C= (p.Arg1255=)
c.2668C= (p.Arg890=)
c.2257C= (p.Arg753=)
n.3780C=
5g.13870946G>TCA359232216DNAH5c.3655C>A (p.Arg1219Ser)
c.3610C>A (p.Arg1204Ser)
n.3862C>A
c.3763C>A (p.Arg1255Ser)
c.2668C>A (p.Arg890Ser)
c.2257C>A (p.Arg753Ser)
n.3780C>A
5g.13870947T>ACA443535363DNAH5c.3654A>T (p.Gly1218=)
c.3609A>T (p.Gly1203=)
n.3861A>T
c.3762A>T (p.Gly1254=)
c.2667A>T (p.Gly889=)
c.2256A>T (p.Gly752=)
n.3779A>T
5g.13870947T>CCA443535364DNAH5c.3654A>G (p.Gly1218=)
c.3609A>G (p.Gly1203=)
n.3861A>G
c.3762A>G (p.Gly1254=)
c.2667A>G (p.Gly889=)
c.2256A>G (p.Gly752=)
n.3779A>G
5g.13870947T>GCA443535365DNAH5c.3654A>C (p.Gly1218=)
c.3609A>C (p.Gly1203=)
n.3861A>C
c.3762A>C (p.Gly1254=)
c.2667A>C (p.Gly889=)
c.2256A>C (p.Gly752=)
n.3779A>C
5g.13870948C>ACA359232218DNAH5c.3653G>T (p.Gly1218Val)
c.3608G>T (p.Gly1203Val)
n.3860G>T
c.3761G>T (p.Gly1254Val)
c.2666G>T (p.Gly889Val)
c.2255G>T (p.Gly752Val)
n.3778G>T
5g.13870948C>GCA359232219DNAH5c.3653G>C (p.Gly1218Ala)
c.3608G>C (p.Gly1203Ala)
n.3860G>C
c.3761G>C (p.Gly1254Ala)
c.2666G>C (p.Gly889Ala)
c.2255G>C (p.Gly752Ala)
n.3778G>C
5g.13870948C>TCA359232221DNAH5c.3653G>A (p.Gly1218Glu)
c.3608G>A (p.Gly1203Glu)
n.3860G>A
c.3761G>A (p.Gly1254Glu)
c.2666G>A (p.Gly889Glu)
c.2255G>A (p.Gly752Glu)
n.3778G>A
5g.13870949C>ACA359232223DNAH5c.3652G>T (p.Gly1218Ter)
c.3607G>T (p.Gly1203Ter)
n.3859G>T
c.3760G>T (p.Gly1254Ter)
c.2665G>T (p.Gly889Ter)
c.2254G>T (p.Gly752Ter)
n.3777G>T
5g.13870949C=CA1528476507DNAH5c.3652G= (p.Gly1218=)
c.3607G= (p.Gly1203=)
n.3859G=
c.3760G= (p.Gly1254=)
c.2665G= (p.Gly889=)
c.2254G= (p.Gly752=)
n.3777G=
5g.13870949C>GCA359232225DNAH5c.3652G>C (p.Gly1218Arg)
c.3607G>C (p.Gly1203Arg)
n.3859G>C
c.3760G>C (p.Gly1254Arg)
c.2665G>C (p.Gly889Arg)
c.2254G>C (p.Gly752Arg)
n.3777G>C
5g.13870949C>TCA3204206DNAH5c.3652G>A (p.Gly1218Arg)
c.3607G>A (p.Gly1203Arg)
n.3859G>A
c.3760G>A (p.Gly1254Arg)
c.2665G>A (p.Gly889Arg)
c.2254G>A (p.Gly752Arg)
n.3777G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870950A=CA1528476509DNAH5c.3651T= (p.Ile1217=)
c.3606T= (p.Ile1202=)
n.3858T=
c.3759T= (p.Ile1253=)
c.2664T= (p.Ile888=)
c.2253T= (p.Ile751=)
n.3776T=
5g.13870950A>CCA359232235DNAH5c.3651T>G (p.Ile1217Met)
c.3606T>G (p.Ile1202Met)
n.3858T>G
c.3759T>G (p.Ile1253Met)
c.2664T>G (p.Ile888Met)
c.2253T>G (p.Ile751Met)
n.3776T>G
5g.13870950A>GCA443535366DNAH5c.3651T>C (p.Ile1217=)
c.3606T>C (p.Ile1202=)
n.3858T>C
c.3759T>C (p.Ile1253=)
c.2664T>C (p.Ile888=)
c.2253T>C (p.Ile751=)
n.3776T>C
 ClinVar gnomAD v4
5g.13870950A>TCA443535367DNAH5c.3651T>A (p.Ile1217=)
c.3606T>A (p.Ile1202=)
n.3858T>A
c.3759T>A (p.Ile1253=)
c.2664T>A (p.Ile888=)
c.2253T>A (p.Ile751=)
n.3776T>A
 dbSNP gnomAD v3 gnomAD v4
5g.13870951A=CA1528476513DNAH5c.3650T= (p.Ile1217=)
c.3605T= (p.Ile1202=)
n.3857T=
c.3758T= (p.Ile1253=)
c.2663T= (p.Ile888=)
c.2252T= (p.Ile751=)
n.3775T=
5g.13870951A>CCA3204208DNAH5c.3650T>G (p.Ile1217Ser)
c.3605T>G (p.Ile1202Ser)
n.3857T>G
c.3758T>G (p.Ile1253Ser)
c.2663T>G (p.Ile888Ser)
c.2252T>G (p.Ile751Ser)
n.3775T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870951A>GCA3204207DNAH5c.3650T>C (p.Ile1217Thr)
c.3605T>C (p.Ile1202Thr)
n.3857T>C
c.3758T>C (p.Ile1253Thr)
c.2663T>C (p.Ile888Thr)
c.2252T>C (p.Ile751Thr)
n.3775T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870951A>TCA359232238DNAH5c.3650T>A (p.Ile1217Asn)
c.3605T>A (p.Ile1202Asn)
n.3857T>A
c.3758T>A (p.Ile1253Asn)
c.2663T>A (p.Ile888Asn)
c.2252T>A (p.Ile751Asn)
n.3775T>A
5g.13870952T>ACA359232243DNAH5c.3649A>T (p.Ile1217Phe)
c.3604A>T (p.Ile1202Phe)
n.3856A>T
c.3757A>T (p.Ile1253Phe)
c.2662A>T (p.Ile888Phe)
c.2251A>T (p.Ile751Phe)
n.3774A>T
5g.13870952T>CCA3204209DNAH5c.3649A>G (p.Ile1217Val)
c.3604A>G (p.Ile1202Val)
n.3856A>G
c.3757A>G (p.Ile1253Val)
c.2662A>G (p.Ile888Val)
c.2251A>G (p.Ile751Val)
n.3774A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870952T>GCA359232246DNAH5c.3649A>C (p.Ile1217Leu)
c.3604A>C (p.Ile1202Leu)
n.3856A>C
c.3757A>C (p.Ile1253Leu)
c.2662A>C (p.Ile888Leu)
c.2251A>C (p.Ile751Leu)
n.3774A>C
5g.13870952T=CA1528476516DNAH5c.3649A= (p.Ile1217=)
c.3604A= (p.Ile1202=)
n.3856A=
c.3757A= (p.Ile1253=)
c.2662A= (p.Ile888=)
c.2251A= (p.Ile751=)
n.3774A=
5g.13870953G>ACA443535368DNAH5c.3648C>T (p.Val1216=)
c.3603C>T (p.Val1201=)
n.3855C>T
c.3756C>T (p.Val1252=)
c.2661C>T (p.Val887=)
c.2250C>T (p.Val750=)
n.3773C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13870953G>CCA443535369DNAH5c.3648C>G (p.Val1216=)
c.3603C>G (p.Val1201=)
n.3855C>G
c.3756C>G (p.Val1252=)
c.2661C>G (p.Val887=)
c.2250C>G (p.Val750=)
n.3773C>G
5g.13870953G=CA1528476518DNAH5c.3648C= (p.Val1216=)
c.3603C= (p.Val1201=)
n.3855C=
c.3756C= (p.Val1252=)
c.2661C= (p.Val887=)
c.2250C= (p.Val750=)
n.3773C=
5g.13870953G>TCA443535370DNAH5c.3648C>A (p.Val1216=)
c.3603C>A (p.Val1201=)
n.3855C>A
c.3756C>A (p.Val1252=)
c.2661C>A (p.Val887=)
c.2250C>A (p.Val750=)
n.3773C>A
5g.13870954A=CA1528476520DNAH5c.3647T= (p.Val1216=)
c.3602T= (p.Val1201=)
n.3854T=
c.3755T= (p.Val1252=)
c.2660T= (p.Val887=)
c.2249T= (p.Val750=)
n.3772T=
5g.13870954A>CCA3204210DNAH5c.3647T>G (p.Val1216Gly)
c.3602T>G (p.Val1201Gly)
n.3854T>G
c.3755T>G (p.Val1252Gly)
c.2660T>G (p.Val887Gly)
c.2249T>G (p.Val750Gly)
n.3772T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870954A>GCA359232249DNAH5c.3647T>C (p.Val1216Ala)
c.3602T>C (p.Val1201Ala)
n.3854T>C
c.3755T>C (p.Val1252Ala)
c.2660T>C (p.Val887Ala)
c.2249T>C (p.Val750Ala)
n.3772T>C
 gnomAD v4
5g.13870954A>TCA359232252DNAH5c.3647T>A (p.Val1216Asp)
c.3602T>A (p.Val1201Asp)
n.3854T>A
c.3755T>A (p.Val1252Asp)
c.2660T>A (p.Val887Asp)
c.2249T>A (p.Val750Asp)
n.3772T>A
5g.13870955C>ACA359232254DNAH5c.3646G>T (p.Val1216Phe)
c.3601G>T (p.Val1201Phe)
n.3853G>T
c.3754G>T (p.Val1252Phe)
c.2659G>T (p.Val887Phe)
c.2248G>T (p.Val750Phe)
n.3771G>T
5g.13870955C=CA1528476522DNAH5c.3646G= (p.Val1216=)
c.3601G= (p.Val1201=)
n.3853G=
c.3754G= (p.Val1252=)
c.2659G= (p.Val887=)
c.2248G= (p.Val750=)
n.3771G=
5g.13870955C>GCA359232255DNAH5c.3646G>C (p.Val1216Leu)
c.3601G>C (p.Val1201Leu)
n.3853G>C
c.3754G>C (p.Val1252Leu)
c.2659G>C (p.Val887Leu)
c.2248G>C (p.Val750Leu)
n.3771G>C
5g.13870955C>TCA359232257DNAH5c.3646G>A (p.Val1216Ile)
c.3601G>A (p.Val1201Ile)
n.3853G>A
c.3754G>A (p.Val1252Ile)
c.2659G>A (p.Val887Ile)
c.2248G>A (p.Val750Ile)
n.3771G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870956A>CCA443535371DNAH5c.3645T>G (p.Val1215=)
c.3600T>G (p.Val1200=)
n.3852T>G
c.3753T>G (p.Val1251=)
c.2658T>G (p.Val886=)
c.2247T>G (p.Val749=)
n.3770T>G
5g.13870956A>GCA443535372DNAH5c.3645T>C (p.Val1215=)
c.3600T>C (p.Val1200=)
n.3852T>C
c.3753T>C (p.Val1251=)
c.2658T>C (p.Val886=)
c.2247T>C (p.Val749=)
n.3770T>C
5g.13870956A>TCA443535373DNAH5c.3645T>A (p.Val1215=)
c.3600T>A (p.Val1200=)
n.3852T>A
c.3753T>A (p.Val1251=)
c.2658T>A (p.Val886=)
c.2247T>A (p.Val749=)
n.3770T>A
5g.13870957A=CA1528476524DNAH5c.3644T= (p.Val1215=)
c.3599T= (p.Val1200=)
n.3851T=
c.3752T= (p.Val1251=)
c.2657T= (p.Val886=)
c.2246T= (p.Val749=)
n.3769T=
5g.13870957A>CCA359232260DNAH5c.3644T>G (p.Val1215Gly)
c.3599T>G (p.Val1200Gly)
n.3851T>G
c.3752T>G (p.Val1251Gly)
c.2657T>G (p.Val886Gly)
c.2246T>G (p.Val749Gly)
n.3769T>G
5g.13870957A>GCA113981492DNAH5c.3644T>C (p.Val1215Ala)
c.3599T>C (p.Val1200Ala)
n.3851T>C
c.3752T>C (p.Val1251Ala)
c.2657T>C (p.Val886Ala)
c.2246T>C (p.Val749Ala)
n.3769T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13870957A>TCA359232269DNAH5c.3644T>A (p.Val1215Asp)
c.3599T>A (p.Val1200Asp)
n.3851T>A
c.3752T>A (p.Val1251Asp)
c.2657T>A (p.Val886Asp)
c.2246T>A (p.Val749Asp)
n.3769T>A
5g.13870958C>ACA359232270DNAH5c.3643G>T (p.Val1215Phe)
c.3598G>T (p.Val1200Phe)
n.3850G>T
c.3751G>T (p.Val1251Phe)
c.2656G>T (p.Val886Phe)
c.2245G>T (p.Val749Phe)
n.3768G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870958C=CA1528476530DNAH5c.3643G= (p.Val1215=)
c.3598G= (p.Val1200=)
n.3850G=
c.3751G= (p.Val1251=)
c.2656G= (p.Val886=)
c.2245G= (p.Val749=)
n.3768G=
5g.13870958C>GCA3204211DNAH5c.3643G>C (p.Val1215Leu)
c.3598G>C (p.Val1200Leu)
n.3850G>C
c.3751G>C (p.Val1251Leu)
c.2656G>C (p.Val886Leu)
c.2245G>C (p.Val749Leu)
n.3768G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870958C>TCA359232272DNAH5c.3643G>A (p.Val1215Ile)
c.3598G>A (p.Val1200Ile)
n.3850G>A
c.3751G>A (p.Val1251Ile)
c.2656G>A (p.Val886Ile)
c.2245G>A (p.Val749Ile)
n.3768G>A
5g.13870959C>ACA359232274DNAH5c.3642G>T (p.Met1214Ile)
c.3597G>T (p.Met1199Ile)
n.3849G>T
c.3750G>T (p.Met1250Ile)
c.2655G>T (p.Met885Ile)
c.2244G>T (p.Met748Ile)
n.3767G>T
5g.13870959C=CA1528476534DNAH5c.3642G= (p.Met1214=)
c.3597G= (p.Met1199=)
n.3849G=
c.3750G= (p.Met1250=)
c.2655G= (p.Met885=)
c.2244G= (p.Met748=)
n.3767G=
5g.13870959C>GCA359232278DNAH5c.3642G>C (p.Met1214Ile)
c.3597G>C (p.Met1199Ile)
n.3849G>C
c.3750G>C (p.Met1250Ile)
c.2655G>C (p.Met885Ile)
c.2244G>C (p.Met748Ile)
n.3767G>C
5g.13870959C>TCA359232277DNAH5c.3642G>A (p.Met1214Ile)
c.3597G>A (p.Met1199Ile)
n.3849G>A
c.3750G>A (p.Met1250Ile)
c.2655G>A (p.Met885Ile)
c.2244G>A (p.Met748Ile)
n.3767G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870960A=CA1528476537DNAH5c.3641T= (p.Met1214=)
c.3596T= (p.Met1199=)
n.3848T=
c.3749T= (p.Met1250=)
c.2654T= (p.Met885=)
c.2243T= (p.Met748=)
n.3766T=
5g.13870960A>CCA359232284DNAH5c.3641T>G (p.Met1214Arg)
c.3596T>G (p.Met1199Arg)
n.3848T>G
c.3749T>G (p.Met1250Arg)
c.2654T>G (p.Met885Arg)
c.2243T>G (p.Met748Arg)
n.3766T>G
5g.13870960A>GCA359232286DNAH5c.3641T>C (p.Met1214Thr)
c.3596T>C (p.Met1199Thr)
n.3848T>C
c.3749T>C (p.Met1250Thr)
c.2654T>C (p.Met885Thr)
c.2243T>C (p.Met748Thr)
n.3766T>C
5g.13870960A>TCA359232287DNAH5c.3641T>A (p.Met1214Lys)
c.3596T>A (p.Met1199Lys)
n.3848T>A
c.3749T>A (p.Met1250Lys)
c.2654T>A (p.Met885Lys)
c.2243T>A (p.Met748Lys)
n.3766T>A
 dbSNP gnomAD v2 gnomAD v4
5g.13870961T>ACA359232289DNAH5c.3640A>T (p.Met1214Leu)
c.3595A>T (p.Met1199Leu)
n.3847A>T
c.3748A>T (p.Met1250Leu)
c.2653A>T (p.Met885Leu)
c.2242A>T (p.Met748Leu)
n.3765A>T
5g.13870961T>CCA3204212DNAH5c.3640A>G (p.Met1214Val)
c.3595A>G (p.Met1199Val)
n.3847A>G
c.3748A>G (p.Met1250Val)
c.2653A>G (p.Met885Val)
c.2242A>G (p.Met748Val)
n.3765A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870961T>GCA359232292DNAH5c.3640A>C (p.Met1214Leu)
c.3595A>C (p.Met1199Leu)
n.3847A>C
c.3748A>C (p.Met1250Leu)
c.2653A>C (p.Met885Leu)
c.2242A>C (p.Met748Leu)
n.3765A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13870961T=CA1528476540DNAH5c.3640A= (p.Met1214=)
c.3595A= (p.Met1199=)
n.3847A=
c.3748A= (p.Met1250=)
c.2653A= (p.Met885=)
c.2242A= (p.Met748=)
n.3765A=
5g.13870962C>ACA359232294DNAH5c.3639G>T (p.Trp1213Cys)
c.3594G>T (p.Trp1198Cys)
n.3846G>T
c.3747G>T (p.Trp1249Cys)
c.2652G>T (p.Trp884Cys)
c.2241G>T (p.Trp747Cys)
n.3764G>T
5g.13870962C>GCA359232296DNAH5c.3639G>C (p.Trp1213Cys)
c.3594G>C (p.Trp1198Cys)
n.3846G>C
c.3747G>C (p.Trp1249Cys)
c.2652G>C (p.Trp884Cys)
c.2241G>C (p.Trp747Cys)
n.3764G>C
5g.13870962C>TCA359232298DNAH5c.3639G>A (p.Trp1213Ter)
c.3594G>A (p.Trp1198Ter)
n.3846G>A
c.3747G>A (p.Trp1249Ter)
c.2652G>A (p.Trp884Ter)
c.2241G>A (p.Trp747Ter)
n.3764G>A
5g.13870963C>ACA359232305DNAH5c.3638G>T (p.Trp1213Leu)
c.3593G>T (p.Trp1198Leu)
n.3845G>T
c.3746G>T (p.Trp1249Leu)
c.2651G>T (p.Trp884Leu)
c.2240G>T (p.Trp747Leu)
n.3763G>T
5g.13870963C>GCA359232307DNAH5c.3638G>C (p.Trp1213Ser)
c.3593G>C (p.Trp1198Ser)
n.3845G>C
c.3746G>C (p.Trp1249Ser)
c.2651G>C (p.Trp884Ser)
c.2240G>C (p.Trp747Ser)
n.3763G>C
5g.13870963C>TCA359232302DNAH5c.3638G>A (p.Trp1213Ter)
c.3593G>A (p.Trp1198Ter)
n.3845G>A
c.3746G>A (p.Trp1249Ter)
c.2651G>A (p.Trp884Ter)
c.2240G>A (p.Trp747Ter)
n.3763G>A
 gnomAD v4
5g.13870964A=CA1528476544DNAH5c.3637T= (p.Trp1213=)
c.3592T= (p.Trp1198=)
n.3844T=
c.3745T= (p.Trp1249=)
c.2650T= (p.Trp884=)
c.2239T= (p.Trp747=)
n.3762T=
5g.13870964A>CCA359232309DNAH5c.3637T>G (p.Trp1213Gly)
c.3592T>G (p.Trp1198Gly)
n.3844T>G
c.3745T>G (p.Trp1249Gly)
c.2650T>G (p.Trp884Gly)
c.2239T>G (p.Trp747Gly)
n.3762T>G
5g.13870964A>GCA113981503DNAH5c.3637T>C (p.Trp1213Arg)
c.3592T>C (p.Trp1198Arg)
n.3844T>C
c.3745T>C (p.Trp1249Arg)
c.2650T>C (p.Trp884Arg)
c.2239T>C (p.Trp747Arg)
n.3762T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870964A>TCA359232312DNAH5c.3637T>A (p.Trp1213Arg)
c.3592T>A (p.Trp1198Arg)
n.3844T>A
c.3745T>A (p.Trp1249Arg)
c.2650T>A (p.Trp884Arg)
c.2239T>A (p.Trp747Arg)
n.3762T>A
5g.13870965G>ACA443535374DNAH5c.3636C>T (p.Ala1212=)
c.3591C>T (p.Ala1197=)
n.3843C>T
c.3744C>T (p.Ala1248=)
c.2649C>T (p.Ala883=)
c.2238C>T (p.Ala746=)
n.3761C>T
5g.13870965G>CCA443535375DNAH5c.3636C>G (p.Ala1212=)
c.3591C>G (p.Ala1197=)
n.3843C>G
c.3744C>G (p.Ala1248=)
c.2649C>G (p.Ala883=)
c.2238C>G (p.Ala746=)
n.3761C>G
5g.13870965G=CA1528476546DNAH5c.3636C= (p.Ala1212=)
c.3591C= (p.Ala1197=)
n.3843C=
c.3744C= (p.Ala1248=)
c.2649C= (p.Ala883=)
c.2238C= (p.Ala746=)
n.3761C=
5g.13870965G>TCA443535376DNAH5c.3636C>A (p.Ala1212=)
c.3591C>A (p.Ala1197=)
n.3843C>A
c.3744C>A (p.Ala1248=)
c.2649C>A (p.Ala883=)
c.2238C>A (p.Ala746=)
n.3761C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13870966G>ACA359232315DNAH5c.3635C>T (p.Ala1212Val)
c.3590C>T (p.Ala1197Val)
n.3842C>T
c.3743C>T (p.Ala1248Val)
c.2648C>T (p.Ala883Val)
c.2237C>T (p.Ala746Val)
n.3760C>T
 gnomAD v4
5g.13870966G>CCA359232317DNAH5c.3635C>G (p.Ala1212Gly)
c.3590C>G (p.Ala1197Gly)
n.3842C>G
c.3743C>G (p.Ala1248Gly)
c.2648C>G (p.Ala883Gly)
c.2237C>G (p.Ala746Gly)
n.3760C>G
5g.13870966G>TCA359232318DNAH5c.3635C>A (p.Ala1212Asp)
c.3590C>A (p.Ala1197Asp)
n.3842C>A
c.3743C>A (p.Ala1248Asp)
c.2648C>A (p.Ala883Asp)
c.2237C>A (p.Ala746Asp)
n.3760C>A
5g.13870967C>ACA359232325DNAH5c.3634G>T (p.Ala1212Ser)
c.3589G>T (p.Ala1197Ser)
n.3841G>T
c.3742G>T (p.Ala1248Ser)
c.2647G>T (p.Ala883Ser)
c.2236G>T (p.Ala746Ser)
n.3759G>T
5g.13870967C>GCA359232321DNAH5c.3634G>C (p.Ala1212Pro)
c.3589G>C (p.Ala1197Pro)
n.3841G>C
c.3742G>C (p.Ala1248Pro)
c.2647G>C (p.Ala883Pro)
c.2236G>C (p.Ala746Pro)
n.3759G>C
5g.13870967C>TCA359232322DNAH5c.3634G>A (p.Ala1212Thr)
c.3589G>A (p.Ala1197Thr)
n.3841G>A
c.3742G>A (p.Ala1248Thr)
c.2647G>A (p.Ala883Thr)
c.2236G>A (p.Ala746Thr)
n.3759G>A
 gnomAD v4
5g.13870968C>ACA359232327DNAH5c.3633G>T (p.Lys1211Asn)
c.3588G>T (p.Lys1196Asn)
n.3840G>T
c.3741G>T (p.Lys1247Asn)
c.2646G>T (p.Lys882Asn)
c.2235G>T (p.Lys745Asn)
n.3758G>T
5g.13870968C>GCA359232328DNAH5c.3633G>C (p.Lys1211Asn)
c.3588G>C (p.Lys1196Asn)
n.3840G>C
c.3741G>C (p.Lys1247Asn)
c.2646G>C (p.Lys882Asn)
c.2235G>C (p.Lys745Asn)
n.3758G>C
5g.13870968C>TCA443535377DNAH5c.3633G>A (p.Lys1211=)
c.3588G>A (p.Lys1196=)
n.3840G>A
c.3741G>A (p.Lys1247=)
c.2646G>A (p.Lys882=)
c.2235G>A (p.Lys745=)
n.3758G>A
 ClinVar
5g.13870969T>ACA359232330DNAH5c.3632A>T (p.Lys1211Met)
c.3587A>T (p.Lys1196Met)
n.3839A>T
c.3740A>T (p.Lys1247Met)
c.2645A>T (p.Lys882Met)
c.2234A>T (p.Lys745Met)
n.3757A>T
 gnomAD v4
5g.13870969T>CCA359232331DNAH5c.3632A>G (p.Lys1211Arg)
c.3587A>G (p.Lys1196Arg)
n.3839A>G
c.3740A>G (p.Lys1247Arg)
c.2645A>G (p.Lys882Arg)
c.2234A>G (p.Lys745Arg)
n.3757A>G
5g.13870969T>GCA359232334DNAH5c.3632A>C (p.Lys1211Thr)
c.3587A>C (p.Lys1196Thr)
n.3839A>C
c.3740A>C (p.Lys1247Thr)
c.2645A>C (p.Lys882Thr)
c.2234A>C (p.Lys745Thr)
n.3757A>C
5g.13870970T>ACA359232335DNAH5c.3631A>T (p.Lys1211Ter)
c.3586A>T (p.Lys1196Ter)
n.3838A>T
c.3739A>T (p.Lys1247Ter)
c.2644A>T (p.Lys882Ter)
c.2233A>T (p.Lys745Ter)
n.3756A>T
5g.13870970T>CCA359232339DNAH5c.3631A>G (p.Lys1211Glu)
c.3586A>G (p.Lys1196Glu)
n.3838A>G
c.3739A>G (p.Lys1247Glu)
c.2644A>G (p.Lys882Glu)
c.2233A>G (p.Lys745Glu)
n.3756A>G
5g.13870970T>GCA359232337DNAH5c.3631A>C (p.Lys1211Gln)
c.3586A>C (p.Lys1196Gln)
n.3838A>C
c.3739A>C (p.Lys1247Gln)
c.2644A>C (p.Lys882Gln)
c.2233A>C (p.Lys745Gln)
n.3756A>C
5g.13870971T>ACA443535378DNAH5c.3630A>T (p.Thr1210=)
c.3585A>T (p.Thr1195=)
n.3837A>T
c.3738A>T (p.Thr1246=)
c.2643A>T (p.Thr881=)
c.2232A>T (p.Thr744=)
n.3755A>T
 COSMIC
5g.13870971T>CCA443535379DNAH5c.3630A>G (p.Thr1210=)
c.3585A>G (p.Thr1195=)
n.3837A>G
c.3738A>G (p.Thr1246=)
c.2643A>G (p.Thr881=)
c.2232A>G (p.Thr744=)
n.3755A>G
5g.13870971T>GCA443535380DNAH5c.3630A>C (p.Thr1210=)
c.3585A>C (p.Thr1195=)
n.3837A>C
c.3738A>C (p.Thr1246=)
c.2643A>C (p.Thr881=)
c.2232A>C (p.Thr744=)
n.3755A>C
5g.13870972G>ACA359232340DNAH5c.3629C>T (p.Thr1210Ile)
c.3584C>T (p.Thr1195Ile)
n.3836C>T
c.3737C>T (p.Thr1246Ile)
c.2642C>T (p.Thr881Ile)
c.2231C>T (p.Thr744Ile)
n.3754C>T
 COSMIC
5g.13870972G>CCA359232342DNAH5c.3629C>G (p.Thr1210Arg)
c.3584C>G (p.Thr1195Arg)
n.3836C>G
c.3737C>G (p.Thr1246Arg)
c.2642C>G (p.Thr881Arg)
c.2231C>G (p.Thr744Arg)
n.3754C>G
5g.13870972G>TCA359232343DNAH5c.3629C>A (p.Thr1210Lys)
c.3584C>A (p.Thr1195Lys)
n.3836C>A
c.3737C>A (p.Thr1246Lys)
c.2642C>A (p.Thr881Lys)
c.2231C>A (p.Thr744Lys)
n.3754C>A
5g.13870973T>ACA359232345DNAH5c.3628A>T (p.Thr1210Ser)
c.3583A>T (p.Thr1195Ser)
n.3835A>T
c.3736A>T (p.Thr1246Ser)
c.2641A>T (p.Thr881Ser)
c.2230A>T (p.Thr744Ser)
n.3753A>T
 dbSNP gnomAD v2 gnomAD v4
5g.13870973T>CCA359232346DNAH5c.3628A>G (p.Thr1210Ala)
c.3583A>G (p.Thr1195Ala)
n.3835A>G
c.3736A>G (p.Thr1246Ala)
c.2641A>G (p.Thr881Ala)
c.2230A>G (p.Thr744Ala)
n.3753A>G
 COSMIC
5g.13870973T>GCA359232347DNAH5c.3628A>C (p.Thr1210Pro)
c.3583A>C (p.Thr1195Pro)
n.3835A>C
c.3736A>C (p.Thr1246Pro)
c.2641A>C (p.Thr881Pro)
c.2230A>C (p.Thr744Pro)
n.3753A>C
5g.13870973T=CA1528476548DNAH5c.3628A= (p.Thr1210=)
c.3583A= (p.Thr1195=)
n.3835A=
c.3736A= (p.Thr1246=)
c.2641A= (p.Thr881=)
c.2230A= (p.Thr744=)
n.3753A=
5g.13870974C>ACA359232349DNAH5c.3627G>T (p.Glu1209Asp)
c.3582G>T (p.Glu1194Asp)
n.3834G>T
c.3735G>T (p.Glu1245Asp)
c.2640G>T (p.Glu880Asp)
c.2229G>T (p.Glu743Asp)
n.3752G>T
5g.13870974C=CA1528476550DNAH5c.3627G= (p.Glu1209=)
c.3582G= (p.Glu1194=)
n.3834G=
c.3735G= (p.Glu1245=)
c.2640G= (p.Glu880=)
c.2229G= (p.Glu743=)
n.3752G=
5g.13870974C>GCA359232351DNAH5c.3627G>C (p.Glu1209Asp)
c.3582G>C (p.Glu1194Asp)
n.3834G>C
c.3735G>C (p.Glu1245Asp)
c.2640G>C (p.Glu880Asp)
c.2229G>C (p.Glu743Asp)
n.3752G>C
5g.13870974C>TCA443535381DNAH5c.3627G>A (p.Glu1209=)
c.3582G>A (p.Glu1194=)
n.3834G>A
c.3735G>A (p.Glu1245=)
c.2640G>A (p.Glu880=)
c.2229G>A (p.Glu743=)
n.3752G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870975T>ACA359232352DNAH5c.3626A>T (p.Glu1209Val)
c.3581A>T (p.Glu1194Val)
n.3833A>T
c.3734A>T (p.Glu1245Val)
c.2639A>T (p.Glu880Val)
c.2228A>T (p.Glu743Val)
n.3751A>T
5g.13870975T>CCA359232354DNAH5c.3626A>G (p.Glu1209Gly)
c.3581A>G (p.Glu1194Gly)
n.3833A>G
c.3734A>G (p.Glu1245Gly)
c.2639A>G (p.Glu880Gly)
c.2228A>G (p.Glu743Gly)
n.3751A>G
5g.13870975T>GCA359232355DNAH5c.3626A>C (p.Glu1209Ala)
c.3581A>C (p.Glu1194Ala)
n.3833A>C
c.3734A>C (p.Glu1245Ala)
c.2639A>C (p.Glu880Ala)
c.2228A>C (p.Glu743Ala)
n.3751A>C
5g.13870976C>ACA359232361DNAH5c.3625G>T (p.Glu1209Ter)
c.3580G>T (p.Glu1194Ter)
n.3832G>T
c.3733G>T (p.Glu1245Ter)
c.2638G>T (p.Glu880Ter)
c.2227G>T (p.Glu743Ter)
n.3750G>T
5g.13870976C>GCA359232360DNAH5c.3625G>C (p.Glu1209Gln)
c.3580G>C (p.Glu1194Gln)
n.3832G>C
c.3733G>C (p.Glu1245Gln)
c.2638G>C (p.Glu880Gln)
c.2227G>C (p.Glu743Gln)
n.3750G>C
5g.13870976C>TCA359232357DNAH5c.3625G>A (p.Glu1209Lys)
c.3580G>A (p.Glu1194Lys)
n.3832G>A
c.3733G>A (p.Glu1245Lys)
c.2638G>A (p.Glu880Lys)
c.2227G>A (p.Glu743Lys)
n.3750G>A
 gnomAD v4
5g.13870977A>CCA443535382DNAH5c.3624T>G (p.Ala1208=)
c.3579T>G (p.Ala1193=)
n.3831T>G
c.3732T>G (p.Ala1244=)
c.2637T>G (p.Ala879=)
c.2226T>G (p.Ala742=)
n.3749T>G
5g.13870977A>GCA443535383DNAH5c.3624T>C (p.Ala1208=)
c.3579T>C (p.Ala1193=)
n.3831T>C
c.3732T>C (p.Ala1244=)
c.2637T>C (p.Ala879=)
c.2226T>C (p.Ala742=)
n.3749T>C
 ClinVar dbSNP gnomAD v4
5g.13870977A>TCA443535384DNAH5c.3624T>A (p.Ala1208=)
c.3579T>A (p.Ala1193=)
n.3831T>A
c.3732T>A (p.Ala1244=)
c.2637T>A (p.Ala879=)
c.2226T>A (p.Ala742=)
n.3749T>A
5g.13870978G>ACA359232364DNAH5c.3623C>T (p.Ala1208Val)
c.3578C>T (p.Ala1193Val)
n.3830C>T
c.3731C>T (p.Ala1244Val)
c.2636C>T (p.Ala879Val)
c.2225C>T (p.Ala742Val)
n.3748C>T
5g.13870978G>CCA359232368DNAH5c.3623C>G (p.Ala1208Gly)
c.3578C>G (p.Ala1193Gly)
n.3830C>G
c.3731C>G (p.Ala1244Gly)
c.2636C>G (p.Ala879Gly)
c.2225C>G (p.Ala742Gly)
n.3748C>G
5g.13870978G>TCA359232366DNAH5c.3623C>A (p.Ala1208Asp)
c.3578C>A (p.Ala1193Asp)
n.3830C>A
c.3731C>A (p.Ala1244Asp)
c.2636C>A (p.Ala879Asp)
c.2225C>A (p.Ala742Asp)
n.3748C>A
5g.13870979C>ACA359232369DNAH5c.3622G>T (p.Ala1208Ser)
c.3577G>T (p.Ala1193Ser)
n.3829G>T
c.3730G>T (p.Ala1244Ser)
c.2635G>T (p.Ala879Ser)
c.2224G>T (p.Ala742Ser)
n.3747G>T
5g.13870979C>GCA359232373DNAH5c.3622G>C (p.Ala1208Pro)
c.3577G>C (p.Ala1193Pro)
n.3829G>C
c.3730G>C (p.Ala1244Pro)
c.2635G>C (p.Ala879Pro)
c.2224G>C (p.Ala742Pro)
n.3747G>C
5g.13870979C>TCA359232371DNAH5c.3622G>A (p.Ala1208Thr)
c.3577G>A (p.Ala1193Thr)
n.3829G>A
c.3730G>A (p.Ala1244Thr)
c.2635G>A (p.Ala879Thr)
c.2224G>A (p.Ala742Thr)
n.3747G>A
5g.13870980A>CCA443535385DNAH5c.3621T>G (p.Thr1207=)
c.3576T>G (p.Thr1192=)
n.3828T>G
c.3729T>G (p.Thr1243=)
c.2634T>G (p.Thr878=)
c.2223T>G (p.Thr741=)
n.3746T>G
5g.13870980A>GCA443535386DNAH5c.3621T>C (p.Thr1207=)
c.3576T>C (p.Thr1192=)
n.3828T>C
c.3729T>C (p.Thr1243=)
c.2634T>C (p.Thr878=)
c.2223T>C (p.Thr741=)
n.3746T>C
5g.13870980A>TCA443535387DNAH5c.3621T>A (p.Thr1207=)
c.3576T>A (p.Thr1192=)
n.3828T>A
c.3729T>A (p.Thr1243=)
c.2634T>A (p.Thr878=)
c.2223T>A (p.Thr741=)
n.3746T>A
5g.13870981G>ACA359232376DNAH5c.3620C>T (p.Thr1207Ile)
c.3575C>T (p.Thr1192Ile)
n.3827C>T
c.3728C>T (p.Thr1243Ile)
c.2633C>T (p.Thr878Ile)
c.2222C>T (p.Thr741Ile)
n.3745C>T
 COSMIC
5g.13870981G>CCA359232380DNAH5c.3620C>G (p.Thr1207Ser)
c.3575C>G (p.Thr1192Ser)
n.3827C>G
c.3728C>G (p.Thr1243Ser)
c.2633C>G (p.Thr878Ser)
c.2222C>G (p.Thr741Ser)
n.3745C>G
5g.13870981G>TCA359232383DNAH5c.3620C>A (p.Thr1207Asn)
c.3575C>A (p.Thr1192Asn)
n.3827C>A
c.3728C>A (p.Thr1243Asn)
c.2633C>A (p.Thr878Asn)
c.2222C>A (p.Thr741Asn)
n.3745C>A
5g.13870982T>ACA359232385DNAH5c.3619A>T (p.Thr1207Ser)
c.3574A>T (p.Thr1192Ser)
n.3826A>T
c.3727A>T (p.Thr1243Ser)
c.2632A>T (p.Thr878Ser)
c.2221A>T (p.Thr741Ser)
n.3744A>T
5g.13870982T>CCA3204213DNAH5c.3619A>G (p.Thr1207Ala)
c.3574A>G (p.Thr1192Ala)
n.3826A>G
c.3727A>G (p.Thr1243Ala)
c.2632A>G (p.Thr878Ala)
c.2221A>G (p.Thr741Ala)
n.3744A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870982T>GCA359232389DNAH5c.3619A>C (p.Thr1207Pro)
c.3574A>C (p.Thr1192Pro)
n.3826A>C
c.3727A>C (p.Thr1243Pro)
c.2632A>C (p.Thr878Pro)
c.2221A>C (p.Thr741Pro)
n.3744A>C
 ClinVar gnomAD v4
5g.13870982T=CA1528476554DNAH5c.3619A= (p.Thr1207=)
c.3574A= (p.Thr1192=)
n.3826A=
c.3727A= (p.Thr1243=)
c.2632A= (p.Thr878=)
c.2221A= (p.Thr741=)
n.3744A=
5g.13870983C>ACA443535390DNAH5c.3618G>T (p.Leu1206=)
c.3573G>T (p.Leu1191=)
n.3825G>T
c.3726G>T (p.Leu1242=)
c.2631G>T (p.Leu877=)
c.2220G>T (p.Leu740=)
n.3743G>T
5g.13870983C=CA1528476556DNAH5c.3618G= (p.Leu1206=)
c.3573G= (p.Leu1191=)
n.3825G=
c.3726G= (p.Leu1242=)
c.2631G= (p.Leu877=)
c.2220G= (p.Leu740=)
n.3743G=
5g.13870983C>GCA443535389DNAH5c.3618G>C (p.Leu1206=)
c.3573G>C (p.Leu1191=)
n.3825G>C
c.3726G>C (p.Leu1242=)
c.2631G>C (p.Leu877=)
c.2220G>C (p.Leu740=)
n.3743G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870983C>TCA443535388DNAH5c.3618G>A (p.Leu1206=)
c.3573G>A (p.Leu1191=)
n.3825G>A
c.3726G>A (p.Leu1242=)
c.2631G>A (p.Leu877=)
c.2220G>A (p.Leu740=)
n.3743G>A
 ClinVar
5g.13870984A>CCA359232392DNAH5c.3617T>G (p.Leu1206Arg)
c.3572T>G (p.Leu1191Arg)
n.3824T>G
c.3725T>G (p.Leu1242Arg)
c.2630T>G (p.Leu877Arg)
c.2219T>G (p.Leu740Arg)
n.3742T>G
5g.13870984A>GCA359232394DNAH5c.3617T>C (p.Leu1206Pro)
c.3572T>C (p.Leu1191Pro)
n.3824T>C
c.3725T>C (p.Leu1242Pro)
c.2630T>C (p.Leu877Pro)
c.2219T>C (p.Leu740Pro)
n.3742T>C
5g.13870984A>TCA359232396DNAH5c.3617T>A (p.Leu1206Gln)
c.3572T>A (p.Leu1191Gln)
n.3824T>A
c.3725T>A (p.Leu1242Gln)
c.2630T>A (p.Leu877Gln)
c.2219T>A (p.Leu740Gln)
n.3742T>A
5g.13870985G>ACA443535391DNAH5c.3616C>T (p.Leu1206=)
c.3571C>T (p.Leu1191=)
n.3823C>T
c.3724C>T (p.Leu1242=)
c.2629C>T (p.Leu877=)
c.2218C>T (p.Leu740=)
n.3741C>T
 ClinVar
5g.13870985G>CCA359232398DNAH5c.3616C>G (p.Leu1206Val)
c.3571C>G (p.Leu1191Val)
n.3823C>G
c.3724C>G (p.Leu1242Val)
c.2629C>G (p.Leu877Val)
c.2218C>G (p.Leu740Val)
n.3741C>G
 COSMIC
5g.13870985G>TCA359232400DNAH5c.3616C>A (p.Leu1206Met)
c.3571C>A (p.Leu1191Met)
n.3823C>A
c.3724C>A (p.Leu1242Met)
c.2629C>A (p.Leu877Met)
c.2218C>A (p.Leu740Met)
n.3741C>A
5g.13870986G>ACA443535394DNAH5c.3615C>T (p.Ala1205=)
c.3570C>T (p.Ala1190=)
n.3822C>T
c.3723C>T (p.Ala1241=)
c.2628C>T (p.Ala876=)
c.2217C>T (p.Ala739=)
n.3740C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13870986G>CCA443535393DNAH5c.3615C>G (p.Ala1205=)
c.3570C>G (p.Ala1190=)
n.3822C>G
c.3723C>G (p.Ala1241=)
c.2628C>G (p.Ala876=)
c.2217C>G (p.Ala739=)
n.3740C>G
5g.13870986G=CA1528476557DNAH5c.3615C= (p.Ala1205=)
c.3570C= (p.Ala1190=)
n.3822C=
c.3723C= (p.Ala1241=)
c.2628C= (p.Ala876=)
c.2217C= (p.Ala739=)
n.3740C=
5g.13870986G>TCA443535392DNAH5c.3615C>A (p.Ala1205=)
c.3570C>A (p.Ala1190=)
n.3822C>A
c.3723C>A (p.Ala1241=)
c.2628C>A (p.Ala876=)
c.2217C>A (p.Ala739=)
n.3740C>A
5g.13870987G>ACA3204214DNAH5c.3614C>T (p.Ala1205Val)
c.3569C>T (p.Ala1190Val)
n.3821C>T
c.3722C>T (p.Ala1241Val)
c.2627C>T (p.Ala876Val)
c.2216C>T (p.Ala739Val)
n.3739C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870987G>CCA359232404DNAH5c.3614C>G (p.Ala1205Gly)
c.3569C>G (p.Ala1190Gly)
n.3821C>G
c.3722C>G (p.Ala1241Gly)
c.2627C>G (p.Ala876Gly)
c.2216C>G (p.Ala739Gly)
n.3739C>G
5g.13870987G=CA1528476559DNAH5c.3614C= (p.Ala1205=)
c.3569C= (p.Ala1190=)
n.3821C=
c.3722C= (p.Ala1241=)
c.2627C= (p.Ala876=)
c.2216C= (p.Ala739=)
n.3739C=
5g.13870987G>TCA359232403DNAH5c.3614C>A (p.Ala1205Asp)
c.3569C>A (p.Ala1190Asp)
n.3821C>A
c.3722C>A (p.Ala1241Asp)
c.2627C>A (p.Ala876Asp)
c.2216C>A (p.Ala739Asp)
n.3739C>A
5g.13870988C>ACA359232412DNAH5c.3613G>T (p.Ala1205Ser)
c.3568G>T (p.Ala1190Ser)
n.3820G>T
c.3721G>T (p.Ala1241Ser)
c.2626G>T (p.Ala876Ser)
c.2215G>T (p.Ala739Ser)
n.3738G>T
 dbSNP gnomAD v2 gnomAD v4
5g.13870988C=CA1528476561DNAH5c.3613G= (p.Ala1205=)
c.3568G= (p.Ala1190=)
n.3820G=
c.3721G= (p.Ala1241=)
c.2626G= (p.Ala876=)
c.2215G= (p.Ala739=)
n.3738G=
5g.13870988C>GCA359232413DNAH5c.3613G>C (p.Ala1205Pro)
c.3568G>C (p.Ala1190Pro)
n.3820G>C
c.3721G>C (p.Ala1241Pro)
c.2626G>C (p.Ala876Pro)
c.2215G>C (p.Ala739Pro)
n.3738G>C
 gnomAD v4
5g.13870988C>TCA3204215DNAH5c.3613G>A (p.Ala1205Thr)
c.3568G>A (p.Ala1190Thr)
n.3820G>A
c.3721G>A (p.Ala1241Thr)
c.2626G>A (p.Ala876Thr)
c.2215G>A (p.Ala739Thr)
n.3738G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870989G>ACA3204216DNAH5c.3612C>T (p.Phe1204=)
c.3567C>T (p.Phe1189=)
n.3819C>T
c.3720C>T (p.Phe1240=)
c.2625C>T (p.Phe875=)
c.2214C>T (p.Phe738=)
n.3737C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870989G>CCA3204217DNAH5c.3612C>G (p.Phe1204Leu)
c.3567C>G (p.Phe1189Leu)
n.3819C>G
c.3720C>G (p.Phe1240Leu)
c.2625C>G (p.Phe875Leu)
c.2214C>G (p.Phe738Leu)
n.3737C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870989G=CA1528476565DNAH5c.3612C= (p.Phe1204=)
c.3567C= (p.Phe1189=)
n.3819C=
c.3720C= (p.Phe1240=)
c.2625C= (p.Phe875=)
c.2214C= (p.Phe738=)
n.3737C=
5g.13870989G>TCA359232417DNAH5c.3612C>A (p.Phe1204Leu)
c.3567C>A (p.Phe1189Leu)
n.3819C>A
c.3720C>A (p.Phe1240Leu)
c.2625C>A (p.Phe875Leu)
c.2214C>A (p.Phe738Leu)
n.3737C>A
5g.13870990A>CCA359232420DNAH5c.3611T>G (p.Phe1204Cys)
c.3566T>G (p.Phe1189Cys)
n.3818T>G
c.3719T>G (p.Phe1240Cys)
c.2624T>G (p.Phe875Cys)
c.2213T>G (p.Phe738Cys)
n.3736T>G
5g.13870990A>GCA359232422DNAH5c.3611T>C (p.Phe1204Ser)
c.3566T>C (p.Phe1189Ser)
n.3818T>C
c.3719T>C (p.Phe1240Ser)
c.2624T>C (p.Phe875Ser)
c.2213T>C (p.Phe738Ser)
n.3736T>C
5g.13870990A>TCA359232425DNAH5c.3611T>A (p.Phe1204Tyr)
c.3566T>A (p.Phe1189Tyr)
n.3818T>A
c.3719T>A (p.Phe1240Tyr)
c.2624T>A (p.Phe875Tyr)
c.2213T>A (p.Phe738Tyr)
n.3736T>A
5g.13870991A>CCA359232428DNAH5c.3610T>G (p.Phe1204Val)
c.3565T>G (p.Phe1189Val)
n.3817T>G
c.3718T>G (p.Phe1240Val)
c.2623T>G (p.Phe875Val)
c.2212T>G (p.Phe738Val)
n.3735T>G
5g.13870991A>GCA359232431DNAH5c.3610T>C (p.Phe1204Leu)
c.3565T>C (p.Phe1189Leu)
n.3817T>C
c.3718T>C (p.Phe1240Leu)
c.2623T>C (p.Phe875Leu)
c.2212T>C (p.Phe738Leu)
n.3735T>C
5g.13870991A>TCA359232432DNAH5c.3610T>A (p.Phe1204Ile)
c.3565T>A (p.Phe1189Ile)
n.3817T>A
c.3718T>A (p.Phe1240Ile)
c.2623T>A (p.Phe875Ile)
c.2212T>A (p.Phe738Ile)
n.3735T>A
5g.13870992C>ACA359232434DNAH5c.3609G>T (p.Lys1203Asn)
c.3564G>T (p.Lys1188Asn)
n.3816G>T
c.3717G>T (p.Lys1239Asn)
c.2622G>T (p.Lys874Asn)
c.2211G>T (p.Lys737Asn)
n.3734G>T
 dbSNP
5g.13870992C=CA1528476569DNAH5c.3609G= (p.Lys1203=)
c.3564G= (p.Lys1188=)
n.3816G=
c.3717G= (p.Lys1239=)
c.2622G= (p.Lys874=)
c.2211G= (p.Lys737=)
n.3734G=
5g.13870992C>GCA359232436DNAH5c.3609G>C (p.Lys1203Asn)
c.3564G>C (p.Lys1188Asn)
n.3816G>C
c.3717G>C (p.Lys1239Asn)
c.2622G>C (p.Lys874Asn)
c.2211G>C (p.Lys737Asn)
n.3734G>C
5g.13870992C>TCA443535395DNAH5c.3609G>A (p.Lys1203=)
c.3564G>A (p.Lys1188=)
n.3816G>A
c.3717G>A (p.Lys1239=)
c.2622G>A (p.Lys874=)
c.2211G>A (p.Lys737=)
n.3734G>A
5g.13870993T>ACA359232439DNAH5c.3608A>T (p.Lys1203Met)
c.3563A>T (p.Lys1188Met)
n.3815A>T
c.3716A>T (p.Lys1239Met)
c.2621A>T (p.Lys874Met)
c.2210A>T (p.Lys737Met)
n.3733A>T
5g.13870993T>CCA359232441DNAH5c.3608A>G (p.Lys1203Arg)
c.3563A>G (p.Lys1188Arg)
n.3815A>G
c.3716A>G (p.Lys1239Arg)
c.2621A>G (p.Lys874Arg)
c.2210A>G (p.Lys737Arg)
n.3733A>G
 gnomAD v4
5g.13870993T>GCA359232443DNAH5c.3608A>C (p.Lys1203Thr)
c.3563A>C (p.Lys1188Thr)
n.3815A>C
c.3716A>C (p.Lys1239Thr)
c.2621A>C (p.Lys874Thr)
c.2210A>C (p.Lys737Thr)
n.3733A>C
5g.13870994T>ACA359232445DNAH5c.3607A>T (p.Lys1203Ter)
c.3562A>T (p.Lys1188Ter)
n.3814A>T
c.3715A>T (p.Lys1239Ter)
c.2620A>T (p.Lys874Ter)
c.2209A>T (p.Lys737Ter)
n.3732A>T
5g.13870994T>CCA359232447DNAH5c.3607A>G (p.Lys1203Glu)
c.3562A>G (p.Lys1188Glu)
n.3814A>G
c.3715A>G (p.Lys1239Glu)
c.2620A>G (p.Lys874Glu)
c.2209A>G (p.Lys737Glu)
n.3732A>G
5g.13870994T>GCA113981547DNAH5c.3607A>C (p.Lys1203Gln)
c.3562A>C (p.Lys1188Gln)
n.3814A>C
c.3715A>C (p.Lys1239Gln)
c.2620A>C (p.Lys874Gln)
c.2209A>C (p.Lys737Gln)
n.3732A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13870994T=CA1528476572DNAH5c.3607A= (p.Lys1203=)
c.3562A= (p.Lys1188=)
n.3814A=
c.3715A= (p.Lys1239=)
c.2620A= (p.Lys874=)
c.2209A= (p.Lys737=)
n.3732A=
5g.13870995C>ACA359232451DNAH5c.3606G>T (p.Leu1202Phe)
c.3561G>T (p.Leu1187Phe)
n.3813G>T
c.3714G>T (p.Leu1238Phe)
c.2619G>T (p.Leu873Phe)
c.2208G>T (p.Leu736Phe)
n.3731G>T
5g.13870995C>GCA359232453DNAH5c.3606G>C (p.Leu1202Phe)
c.3561G>C (p.Leu1187Phe)
n.3813G>C
c.3714G>C (p.Leu1238Phe)
c.2619G>C (p.Leu873Phe)
c.2208G>C (p.Leu736Phe)
n.3731G>C
5g.13870995C>TCA443535396DNAH5c.3606G>A (p.Leu1202=)
c.3561G>A (p.Leu1187=)
n.3813G>A
c.3714G>A (p.Leu1238=)
c.2619G>A (p.Leu873=)
c.2208G>A (p.Leu736=)
n.3731G>A
5g.13870996A>CCA359232455DNAH5c.3605T>G (p.Leu1202Trp)
c.3560T>G (p.Leu1187Trp)
n.3812T>G
c.3713T>G (p.Leu1238Trp)
c.2618T>G (p.Leu873Trp)
c.2207T>G (p.Leu736Trp)
n.3730T>G
5g.13870996A>GCA359232456DNAH5c.3605T>C (p.Leu1202Ser)
c.3560T>C (p.Leu1187Ser)
n.3812T>C
c.3713T>C (p.Leu1238Ser)
c.2618T>C (p.Leu873Ser)
c.2207T>C (p.Leu736Ser)
n.3730T>C
5g.13870996A>TCA359232458DNAH5c.3605T>A (p.Leu1202Ter)
c.3560T>A (p.Leu1187Ter)
n.3812T>A
c.3713T>A (p.Leu1238Ter)
c.2618T>A (p.Leu873Ter)
c.2207T>A (p.Leu736Ter)
n.3730T>A
5g.13870997A>CCA359232460DNAH5c.3604T>G (p.Leu1202Val)
c.3559T>G (p.Leu1187Val)
n.3811T>G
c.3712T>G (p.Leu1238Val)
c.2617T>G (p.Leu873Val)
c.2206T>G (p.Leu736Val)
n.3729T>G
5g.13870997A>GCA443535397DNAH5c.3604T>C (p.Leu1202=)
c.3559T>C (p.Leu1187=)
n.3811T>C
c.3712T>C (p.Leu1238=)
c.2617T>C (p.Leu873=)
c.2206T>C (p.Leu736=)
n.3729T>C
5g.13870997A>TCA359232461DNAH5c.3604T>A (p.Leu1202Met)
c.3559T>A (p.Leu1187Met)
n.3811T>A
c.3712T>A (p.Leu1238Met)
c.2617T>A (p.Leu873Met)
c.2206T>A (p.Leu736Met)
n.3729T>A
5g.13870998G>ACA443535398DNAH5c.3603C>T (p.Asp1201=)
c.3558C>T (p.Asp1186=)
n.3810C>T
c.3711C>T (p.Asp1237=)
c.2616C>T (p.Asp872=)
c.2205C>T (p.Asp735=)
n.3728C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13870998G>CCA359232467DNAH5c.3603C>G (p.Asp1201Glu)
c.3558C>G (p.Asp1186Glu)
n.3810C>G
c.3711C>G (p.Asp1237Glu)
c.2616C>G (p.Asp872Glu)
c.2205C>G (p.Asp735Glu)
n.3728C>G
5g.13870998G=CA1528476577DNAH5c.3603C= (p.Asp1201=)
c.3558C= (p.Asp1186=)
n.3810C=
c.3711C= (p.Asp1237=)
c.2616C= (p.Asp872=)
c.2205C= (p.Asp735=)
n.3728C=
5g.13870998G>TCA359232465DNAH5c.3603C>A (p.Asp1201Glu)
c.3558C>A (p.Asp1186Glu)
n.3810C>A
c.3711C>A (p.Asp1237Glu)
c.2616C>A (p.Asp872Glu)
c.2205C>A (p.Asp735Glu)
n.3728C>A
5g.13870999T>ACA359232469DNAH5c.3602A>T (p.Asp1201Val)
c.3557A>T (p.Asp1186Val)
n.3809A>T
c.3710A>T (p.Asp1237Val)
c.2615A>T (p.Asp872Val)
c.2204A>T (p.Asp735Val)
n.3727A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870999T>CCA359232472DNAH5c.3602A>G (p.Asp1201Gly)
c.3557A>G (p.Asp1186Gly)
n.3809A>G
c.3710A>G (p.Asp1237Gly)
c.2615A>G (p.Asp872Gly)
c.2204A>G (p.Asp735Gly)
n.3727A>G
5g.13870999T>GCA359232473DNAH5c.3602A>C (p.Asp1201Ala)
c.3557A>C (p.Asp1186Ala)
n.3809A>C
c.3710A>C (p.Asp1237Ala)
c.2615A>C (p.Asp872Ala)
c.2204A>C (p.Asp735Ala)
n.3727A>C
 COSMIC
5g.13870999T=CA1528476579DNAH5c.3602A= (p.Asp1201=)
c.3557A= (p.Asp1186=)
n.3809A=
c.3710A= (p.Asp1237=)
c.2615A= (p.Asp872=)
c.2204A= (p.Asp735=)
n.3727A=
5g.13871000C>ACA359232476DNAH5c.3601G>T (p.Asp1201Tyr)
c.3556G>T (p.Asp1186Tyr)
n.3808G>T
c.3709G>T (p.Asp1237Tyr)
c.2614G>T (p.Asp872Tyr)
c.2203G>T (p.Asp735Tyr)
n.3726G>T
5g.13871000C>GCA359232478DNAH5c.3601G>C (p.Asp1201His)
c.3556G>C (p.Asp1186His)
n.3808G>C
c.3709G>C (p.Asp1237His)
c.2614G>C (p.Asp872His)
c.2203G>C (p.Asp735His)
n.3726G>C
5g.13871000C>TCA359232480DNAH5c.3601G>A (p.Asp1201Asn)
c.3556G>A (p.Asp1186Asn)
n.3808G>A
c.3709G>A (p.Asp1237Asn)
c.2614G>A (p.Asp872Asn)
c.2203G>A (p.Asp735Asn)
n.3726G>A
5g.13871001A>CCA443535399DNAH5c.3600T>G (p.Ala1200=)
c.3555T>G (p.Ala1185=)
n.3807T>G
c.3708T>G (p.Ala1236=)
c.2613T>G (p.Ala871=)
c.2202T>G (p.Ala734=)
n.3725T>G
5g.13871001A>GCA443535400DNAH5c.3600T>C (p.Ala1200=)
c.3555T>C (p.Ala1185=)
n.3807T>C
c.3708T>C (p.Ala1236=)
c.2613T>C (p.Ala871=)
c.2202T>C (p.Ala734=)
n.3725T>C
5g.13871001A>TCA443535401DNAH5c.3600T>A (p.Ala1200=)
c.3555T>A (p.Ala1185=)
n.3807T>A
c.3708T>A (p.Ala1236=)
c.2613T>A (p.Ala871=)
c.2202T>A (p.Ala734=)
n.3725T>A
5g.13871002G>ACA359232482DNAH5c.3599C>T (p.Ala1200Val)
c.3554C>T (p.Ala1185Val)
n.3806C>T
c.3707C>T (p.Ala1236Val)
c.2612C>T (p.Ala871Val)
c.2201C>T (p.Ala734Val)
n.3724C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13871002G>CCA359232484DNAH5c.3599C>G (p.Ala1200Gly)
c.3554C>G (p.Ala1185Gly)
n.3806C>G
c.3707C>G (p.Ala1236Gly)
c.2612C>G (p.Ala871Gly)
c.2201C>G (p.Ala734Gly)
n.3724C>G
5g.13871002G=CA1528476581DNAH5c.3599C= (p.Ala1200=)
c.3554C= (p.Ala1185=)
n.3806C=
c.3707C= (p.Ala1236=)
c.2612C= (p.Ala871=)
c.2201C= (p.Ala734=)
n.3724C=
5g.13871002G>TCA359232487DNAH5c.3599C>A (p.Ala1200Asp)
c.3554C>A (p.Ala1185Asp)
n.3806C>A
c.3707C>A (p.Ala1236Asp)
c.2612C>A (p.Ala871Asp)
c.2201C>A (p.Ala734Asp)
n.3724C>A
5g.13871003_13871019delCA2673276440DNAH5c.3599-16_3599del
c.3554-16_3554del
n.3806-16_3806del
c.3707-16_3707del
c.2612-16_2612del
c.2201-16_2201del
n.3724-16_3724del
 gnomAD v4

Number of alleles fetched