Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13870867C>ACA359231801DNAH5c.3734G>T (p.Arg1245Leu)
c.3689G>T (p.Arg1230Leu)
n.3941G>T
c.3842G>T (p.Arg1281Leu)
c.2747G>T (p.Arg916Leu)
c.2336G>T (p.Arg779Leu)
n.3859G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870867C=CA1528476387DNAH5c.3734G= (p.Arg1245=)
c.3689G= (p.Arg1230=)
n.3941G=
c.3842G= (p.Arg1281=)
c.2747G= (p.Arg916=)
c.2336G= (p.Arg779=)
n.3859G=
5g.13870867C>GCA359231804DNAH5c.3734G>C (p.Arg1245Pro)
c.3689G>C (p.Arg1230Pro)
n.3941G>C
c.3842G>C (p.Arg1281Pro)
c.2747G>C (p.Arg916Pro)
c.2336G>C (p.Arg779Pro)
n.3859G>C
5g.13870867C>TCA242429DNAH5c.3734G>A (p.Arg1245His)
c.3689G>A (p.Arg1230His)
n.3941G>A
c.3842G>A (p.Arg1281His)
c.2747G>A (p.Arg916His)
c.2336G>A (p.Arg779His)
n.3859G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870868G>ACA3204189DNAH5c.3733C>T (p.Arg1245Cys)
c.3688C>T (p.Arg1230Cys)
n.3940C>T
c.3841C>T (p.Arg1281Cys)
c.2746C>T (p.Arg916Cys)
c.2335C>T (p.Arg779Cys)
n.3858C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13870868G>CCA359231809DNAH5c.3733C>G (p.Arg1245Gly)
c.3688C>G (p.Arg1230Gly)
n.3940C>G
c.3841C>G (p.Arg1281Gly)
c.2746C>G (p.Arg916Gly)
c.2335C>G (p.Arg779Gly)
n.3858C>G
5g.13870868G=CA1528476390DNAH5c.3733C= (p.Arg1245=)
c.3688C= (p.Arg1230=)
n.3940C=
c.3841C= (p.Arg1281=)
c.2746C= (p.Arg916=)
c.2335C= (p.Arg779=)
n.3858C=
5g.13870868G>TCA359231820DNAH5c.3733C>A (p.Arg1245Ser)
c.3688C>A (p.Arg1230Ser)
n.3940C>A
c.3841C>A (p.Arg1281Ser)
c.2746C>A (p.Arg916Ser)
c.2335C>A (p.Arg779Ser)
n.3858C>A
 gnomAD v4
5g.13870869A>CCA359231834DNAH5c.3732T>G (p.Asn1244Lys)
c.3687T>G (p.Asn1229Lys)
n.3939T>G
c.3840T>G (p.Asn1280Lys)
c.2745T>G (p.Asn915Lys)
c.2334T>G (p.Asn778Lys)
n.3857T>G
5g.13870869A>GCA443535331DNAH5c.3732T>C (p.Asn1244=)
c.3687T>C (p.Asn1229=)
n.3939T>C
c.3840T>C (p.Asn1280=)
c.2745T>C (p.Asn915=)
c.2334T>C (p.Asn778=)
n.3857T>C
5g.13870869A>TCA359231826DNAH5c.3732T>A (p.Asn1244Lys)
c.3687T>A (p.Asn1229Lys)
n.3939T>A
c.3840T>A (p.Asn1280Lys)
c.2745T>A (p.Asn915Lys)
c.2334T>A (p.Asn778Lys)
n.3857T>A
5g.13870870T>ACA359231837DNAH5c.3731A>T (p.Asn1244Ile)
c.3686A>T (p.Asn1229Ile)
n.3938A>T
c.3839A>T (p.Asn1280Ile)
c.2744A>T (p.Asn915Ile)
c.2333A>T (p.Asn778Ile)
n.3856A>T
5g.13870870T>CCA359231840DNAH5c.3731A>G (p.Asn1244Ser)
c.3686A>G (p.Asn1229Ser)
n.3938A>G
c.3839A>G (p.Asn1280Ser)
c.2744A>G (p.Asn915Ser)
c.2333A>G (p.Asn778Ser)
n.3856A>G
 dbSNP gnomAD v4
5g.13870870T>GCA359231841DNAH5c.3731A>C (p.Asn1244Thr)
c.3686A>C (p.Asn1229Thr)
n.3938A>C
c.3839A>C (p.Asn1280Thr)
c.2744A>C (p.Asn915Thr)
c.2333A>C (p.Asn778Thr)
n.3856A>C
5g.13870870T=CA1528476394DNAH5c.3731A= (p.Asn1244=)
c.3686A= (p.Asn1229=)
n.3938A=
c.3839A= (p.Asn1280=)
c.2744A= (p.Asn915=)
c.2333A= (p.Asn778=)
n.3856A=
5g.13870871T>ACA359231842DNAH5c.3730A>T (p.Asn1244Tyr)
c.3685A>T (p.Asn1229Tyr)
n.3937A>T
c.3838A>T (p.Asn1280Tyr)
c.2743A>T (p.Asn915Tyr)
c.2332A>T (p.Asn778Tyr)
n.3855A>T
5g.13870871T>CCA359231843DNAH5c.3730A>G (p.Asn1244Asp)
c.3685A>G (p.Asn1229Asp)
n.3937A>G
c.3838A>G (p.Asn1280Asp)
c.2743A>G (p.Asn915Asp)
c.2332A>G (p.Asn778Asp)
n.3855A>G
5g.13870871T>GCA359231844DNAH5c.3730A>C (p.Asn1244His)
c.3685A>C (p.Asn1229His)
n.3937A>C
c.3838A>C (p.Asn1280His)
c.2743A>C (p.Asn915His)
c.2332A>C (p.Asn778His)
n.3855A>C
 dbSNP
5g.13870871T=CA1528476395DNAH5c.3730A= (p.Asn1244=)
c.3685A= (p.Asn1229=)
n.3937A=
c.3838A= (p.Asn1280=)
c.2743A= (p.Asn915=)
c.2332A= (p.Asn778=)
n.3855A=
5g.13870872T>ACA443535332DNAH5c.3729A>T (p.Leu1243=)
c.3684A>T (p.Leu1228=)
n.3936A>T
c.3837A>T (p.Leu1279=)
c.2742A>T (p.Leu914=)
c.2331A>T (p.Leu777=)
n.3854A>T
5g.13870872T>CCA443535333DNAH5c.3729A>G (p.Leu1243=)
c.3684A>G (p.Leu1228=)
n.3936A>G
c.3837A>G (p.Leu1279=)
c.2742A>G (p.Leu914=)
c.2331A>G (p.Leu777=)
n.3854A>G
 gnomAD v4
5g.13870872T>GCA443535334DNAH5c.3729A>C (p.Leu1243=)
c.3684A>C (p.Leu1228=)
n.3936A>C
c.3837A>C (p.Leu1279=)
c.2742A>C (p.Leu914=)
c.2331A>C (p.Leu777=)
n.3854A>C
 ClinVar
5g.13870873A=CA1528476397DNAH5c.3728T= (p.Leu1243=)
c.3683T= (p.Leu1228=)
n.3935T=
c.3836T= (p.Leu1279=)
c.2741T= (p.Leu914=)
c.2330T= (p.Leu777=)
n.3853T=
5g.13870873A>CCA3204190DNAH5c.3728T>G (p.Leu1243Arg)
c.3683T>G (p.Leu1228Arg)
n.3935T>G
c.3836T>G (p.Leu1279Arg)
c.2741T>G (p.Leu914Arg)
c.2330T>G (p.Leu777Arg)
n.3853T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870873A>GCA359231845DNAH5c.3728T>C (p.Leu1243Pro)
c.3683T>C (p.Leu1228Pro)
n.3935T>C
c.3836T>C (p.Leu1279Pro)
c.2741T>C (p.Leu914Pro)
c.2330T>C (p.Leu777Pro)
n.3853T>C
5g.13870873A>TCA359231846DNAH5c.3728T>A (p.Leu1243Gln)
c.3683T>A (p.Leu1228Gln)
n.3935T>A
c.3836T>A (p.Leu1279Gln)
c.2741T>A (p.Leu914Gln)
c.2330T>A (p.Leu777Gln)
n.3853T>A
5g.13870874G>ACA443535335DNAH5c.3727C>T (p.Leu1243=)
c.3682C>T (p.Leu1228=)
n.3934C>T
c.3835C>T (p.Leu1279=)
c.2740C>T (p.Leu914=)
c.2329C>T (p.Leu777=)
n.3852C>T
5g.13870874G>CCA359231847DNAH5c.3727C>G (p.Leu1243Val)
c.3682C>G (p.Leu1228Val)
n.3934C>G
c.3835C>G (p.Leu1279Val)
c.2740C>G (p.Leu914Val)
c.2329C>G (p.Leu777Val)
n.3852C>G
 ClinVar dbSNP gnomAD v4
5g.13870874G>TCA359231848DNAH5c.3727C>A (p.Leu1243Ile)
c.3682C>A (p.Leu1228Ile)
n.3934C>A
c.3835C>A (p.Leu1279Ile)
c.2740C>A (p.Leu914Ile)
c.2329C>A (p.Leu777Ile)
n.3852C>A
5g.13870875T>ACA359231850DNAH5c.3726A>T (p.Lys1242Asn)
c.3681A>T (p.Lys1227Asn)
n.3933A>T
c.3834A>T (p.Lys1278Asn)
c.2739A>T (p.Lys913Asn)
c.2328A>T (p.Lys776Asn)
n.3851A>T
5g.13870875T>CCA443535336DNAH5c.3726A>G (p.Lys1242=)
c.3681A>G (p.Lys1227=)
n.3933A>G
c.3834A>G (p.Lys1278=)
c.2739A>G (p.Lys913=)
c.2328A>G (p.Lys776=)
n.3851A>G
5g.13870875T>GCA359231851DNAH5c.3726A>C (p.Lys1242Asn)
c.3681A>C (p.Lys1227Asn)
n.3933A>C
c.3834A>C (p.Lys1278Asn)
c.2739A>C (p.Lys913Asn)
c.2328A>C (p.Lys776Asn)
n.3851A>C
5g.13870877delCA2673276439DNAH5c.3726del (p.Lys1242AsnfsTer2)
c.3681del (p.Lys1227AsnfsTer2)
n.3933del
c.3834del (p.Lys1278AsnfsTer2)
c.2739del (p.Lys913AsnfsTer2)
c.2328del (p.Lys776AsnfsTer2)
n.3851del
 gnomAD v4
5g.13870876T>ACA359231858DNAH5c.3725A>T (p.Lys1242Ile)
c.3680A>T (p.Lys1227Ile)
n.3932A>T
c.3833A>T (p.Lys1278Ile)
c.2738A>T (p.Lys913Ile)
c.2327A>T (p.Lys776Ile)
n.3850A>T
5g.13870876T>CCA359231861DNAH5c.3725A>G (p.Lys1242Arg)
c.3680A>G (p.Lys1227Arg)
n.3932A>G
c.3833A>G (p.Lys1278Arg)
c.2738A>G (p.Lys913Arg)
c.2327A>G (p.Lys776Arg)
n.3850A>G
 ClinVar dbSNP
5g.13870876T>GCA359231853DNAH5c.3725A>C (p.Lys1242Thr)
c.3680A>C (p.Lys1227Thr)
n.3932A>C
c.3833A>C (p.Lys1278Thr)
c.2738A>C (p.Lys913Thr)
c.2327A>C (p.Lys776Thr)
n.3850A>C
5g.13870876T=CA1528476399DNAH5c.3725A= (p.Lys1242=)
c.3680A= (p.Lys1227=)
n.3932A=
c.3833A= (p.Lys1278=)
c.2738A= (p.Lys913=)
c.2327A= (p.Lys776=)
n.3850A=
5g.13870877T>ACA359231870DNAH5c.3724A>T (p.Lys1242Ter)
c.3679A>T (p.Lys1227Ter)
n.3931A>T
c.3832A>T (p.Lys1278Ter)
c.2737A>T (p.Lys913Ter)
c.2326A>T (p.Lys776Ter)
n.3849A>T
5g.13870877T>CCA359231865DNAH5c.3724A>G (p.Lys1242Glu)
c.3679A>G (p.Lys1227Glu)
n.3931A>G
c.3832A>G (p.Lys1278Glu)
c.2737A>G (p.Lys913Glu)
c.2326A>G (p.Lys776Glu)
n.3849A>G
5g.13870877T>GCA359231867DNAH5c.3724A>C (p.Lys1242Gln)
c.3679A>C (p.Lys1227Gln)
n.3931A>C
c.3832A>C (p.Lys1278Gln)
c.2737A>C (p.Lys913Gln)
c.2326A>C (p.Lys776Gln)
n.3849A>C
 gnomAD v4
5g.13870878C>ACA359231871DNAH5c.3723G>T (p.Lys1241Asn)
c.3678G>T (p.Lys1226Asn)
n.3930G>T
c.3831G>T (p.Lys1277Asn)
c.2736G>T (p.Lys912Asn)
c.2325G>T (p.Lys775Asn)
n.3848G>T
 gnomAD v4
5g.13870878C>GCA359231874DNAH5c.3723G>C (p.Lys1241Asn)
c.3678G>C (p.Lys1226Asn)
n.3930G>C
c.3831G>C (p.Lys1277Asn)
c.2736G>C (p.Lys912Asn)
c.2325G>C (p.Lys775Asn)
n.3848G>C
5g.13870878C>TCA443535337DNAH5c.3723G>A (p.Lys1241=)
c.3678G>A (p.Lys1226=)
n.3930G>A
c.3831G>A (p.Lys1277=)
c.2736G>A (p.Lys912=)
c.2325G>A (p.Lys775=)
n.3848G>A
 gnomAD v4 COSMIC
5g.13870879T>ACA359231876DNAH5c.3722A>T (p.Lys1241Met)
c.3677A>T (p.Lys1226Met)
n.3929A>T
c.3830A>T (p.Lys1277Met)
c.2735A>T (p.Lys912Met)
c.2324A>T (p.Lys775Met)
n.3847A>T
5g.13870879T>CCA359231877DNAH5c.3722A>G (p.Lys1241Arg)
c.3677A>G (p.Lys1226Arg)
n.3929A>G
c.3830A>G (p.Lys1277Arg)
c.2735A>G (p.Lys912Arg)
c.2324A>G (p.Lys775Arg)
n.3847A>G
5g.13870879T>GCA359231884DNAH5c.3722A>C (p.Lys1241Thr)
c.3677A>C (p.Lys1226Thr)
n.3929A>C
c.3830A>C (p.Lys1277Thr)
c.2735A>C (p.Lys912Thr)
c.2324A>C (p.Lys775Thr)
n.3847A>C
5g.13870880T>ACA359231887DNAH5c.3721A>T (p.Lys1241Ter)
c.3676A>T (p.Lys1226Ter)
n.3928A>T
c.3829A>T (p.Lys1277Ter)
c.2734A>T (p.Lys912Ter)
c.2323A>T (p.Lys775Ter)
n.3846A>T
5g.13870880T>CCA359231888DNAH5c.3721A>G (p.Lys1241Glu)
c.3676A>G (p.Lys1226Glu)
n.3928A>G
c.3829A>G (p.Lys1277Glu)
c.2734A>G (p.Lys912Glu)
c.2323A>G (p.Lys775Glu)
n.3846A>G
5g.13870880T>GCA359231890DNAH5c.3721A>C (p.Lys1241Gln)
c.3676A>C (p.Lys1226Gln)
n.3928A>C
c.3829A>C (p.Lys1277Gln)
c.2734A>C (p.Lys912Gln)
c.2323A>C (p.Lys775Gln)
n.3846A>C
5g.13870881A>CCA359231891DNAH5c.3720T>G (p.Asn1240Lys)
c.3675T>G (p.Asn1225Lys)
n.3927T>G
c.3828T>G (p.Asn1276Lys)
c.2733T>G (p.Asn911Lys)
c.2322T>G (p.Asn774Lys)
n.3845T>G
5g.13870881A>GCA443535338DNAH5c.3720T>C (p.Asn1240=)
c.3675T>C (p.Asn1225=)
n.3927T>C
c.3828T>C (p.Asn1276=)
c.2733T>C (p.Asn911=)
c.2322T>C (p.Asn774=)
n.3845T>C
5g.13870881A>TCA359231893DNAH5c.3720T>A (p.Asn1240Lys)
c.3675T>A (p.Asn1225Lys)
n.3927T>A
c.3828T>A (p.Asn1276Lys)
c.2733T>A (p.Asn911Lys)
c.2322T>A (p.Asn774Lys)
n.3845T>A
5g.13870882T>ACA359231897DNAH5c.3719A>T (p.Asn1240Ile)
c.3674A>T (p.Asn1225Ile)
n.3926A>T
c.3827A>T (p.Asn1276Ile)
c.2732A>T (p.Asn911Ile)
c.2321A>T (p.Asn774Ile)
n.3844A>T
 dbSNP gnomAD v4
5g.13870882T>CCA359231895DNAH5c.3719A>G (p.Asn1240Ser)
c.3674A>G (p.Asn1225Ser)
n.3926A>G
c.3827A>G (p.Asn1276Ser)
c.2732A>G (p.Asn911Ser)
c.2321A>G (p.Asn774Ser)
n.3844A>G
 dbSNP gnomAD v4 COSMIC
5g.13870882T>GCA359231894DNAH5c.3719A>C (p.Asn1240Thr)
c.3674A>C (p.Asn1225Thr)
n.3926A>C
c.3827A>C (p.Asn1276Thr)
c.2732A>C (p.Asn911Thr)
c.2321A>C (p.Asn774Thr)
n.3844A>C
5g.13870882T=CA1528476401DNAH5c.3719A= (p.Asn1240=)
c.3674A= (p.Asn1225=)
n.3926A=
c.3827A= (p.Asn1276=)
c.2732A= (p.Asn911=)
c.2321A= (p.Asn774=)
n.3844A=
5g.13870883T>ACA359231899DNAH5c.3718A>T (p.Asn1240Tyr)
c.3673A>T (p.Asn1225Tyr)
n.3925A>T
c.3826A>T (p.Asn1276Tyr)
c.2731A>T (p.Asn911Tyr)
c.2320A>T (p.Asn774Tyr)
n.3843A>T
5g.13870883T>CCA359231901DNAH5c.3718A>G (p.Asn1240Asp)
c.3673A>G (p.Asn1225Asp)
n.3925A>G
c.3826A>G (p.Asn1276Asp)
c.2731A>G (p.Asn911Asp)
c.2320A>G (p.Asn774Asp)
n.3843A>G
 dbSNP gnomAD v4
5g.13870883T>GCA359231904DNAH5c.3718A>C (p.Asn1240His)
c.3673A>C (p.Asn1225His)
n.3925A>C
c.3826A>C (p.Asn1276His)
c.2731A>C (p.Asn911His)
c.2320A>C (p.Asn774His)
n.3843A>C
5g.13870883T=CA1528476406DNAH5c.3718A= (p.Asn1240=)
c.3673A= (p.Asn1225=)
n.3925A=
c.3826A= (p.Asn1276=)
c.2731A= (p.Asn911=)
c.2320A= (p.Asn774=)
n.3843A=
5g.13870884G>ACA443535339DNAH5c.3717C>T (p.Phe1239=)
c.3672C>T (p.Phe1224=)
n.3924C>T
c.3825C>T (p.Phe1275=)
c.2730C>T (p.Phe910=)
c.2319C>T (p.Phe773=)
n.3842C>T
 ClinVar COSMIC
5g.13870884G>CCA359231906DNAH5c.3717C>G (p.Phe1239Leu)
c.3672C>G (p.Phe1224Leu)
n.3924C>G
c.3825C>G (p.Phe1275Leu)
c.2730C>G (p.Phe910Leu)
c.2319C>G (p.Phe773Leu)
n.3842C>G
5g.13870884G>TCA359231907DNAH5c.3717C>A (p.Phe1239Leu)
c.3672C>A (p.Phe1224Leu)
n.3924C>A
c.3825C>A (p.Phe1275Leu)
c.2730C>A (p.Phe910Leu)
c.2319C>A (p.Phe773Leu)
n.3842C>A
 gnomAD v3 gnomAD v4
5g.13870885A>CCA359231910DNAH5c.3716T>G (p.Phe1239Cys)
c.3671T>G (p.Phe1224Cys)
n.3923T>G
c.3824T>G (p.Phe1275Cys)
c.2729T>G (p.Phe910Cys)
c.2318T>G (p.Phe773Cys)
n.3841T>G
5g.13870885A>GCA359231911DNAH5c.3716T>C (p.Phe1239Ser)
c.3671T>C (p.Phe1224Ser)
n.3923T>C
c.3824T>C (p.Phe1275Ser)
c.2729T>C (p.Phe910Ser)
c.2318T>C (p.Phe773Ser)
n.3841T>C
5g.13870885A>TCA359231918DNAH5c.3716T>A (p.Phe1239Tyr)
c.3671T>A (p.Phe1224Tyr)
n.3923T>A
c.3824T>A (p.Phe1275Tyr)
c.2729T>A (p.Phe910Tyr)
c.2318T>A (p.Phe773Tyr)
n.3841T>A
5g.13870886A=CA1528476408DNAH5c.3715T= (p.Phe1239=)
c.3670T= (p.Phe1224=)
n.3922T=
c.3823T= (p.Phe1275=)
c.2728T= (p.Phe910=)
c.2317T= (p.Phe773=)
n.3840T=
5g.13870886A>CCA359231921DNAH5c.3715T>G (p.Phe1239Val)
c.3670T>G (p.Phe1224Val)
n.3922T>G
c.3823T>G (p.Phe1275Val)
c.2728T>G (p.Phe910Val)
c.2317T>G (p.Phe773Val)
n.3840T>G
5g.13870886A>GCA359231923DNAH5c.3715T>C (p.Phe1239Leu)
c.3670T>C (p.Phe1224Leu)
n.3922T>C
c.3823T>C (p.Phe1275Leu)
c.2728T>C (p.Phe910Leu)
c.2317T>C (p.Phe773Leu)
n.3840T>C
5g.13870886A>TCA359231924DNAH5c.3715T>A (p.Phe1239Ile)
c.3670T>A (p.Phe1224Ile)
n.3922T>A
c.3823T>A (p.Phe1275Ile)
c.2728T>A (p.Phe910Ile)
c.2317T>A (p.Phe773Ile)
n.3840T>A
 dbSNP gnomAD v4
5g.13870887T>ACA359231925DNAH5c.3714A>T (p.Glu1238Asp)
c.3669A>T (p.Glu1223Asp)
n.3921A>T
c.3822A>T (p.Glu1274Asp)
c.2727A>T (p.Glu909Asp)
c.2316A>T (p.Glu772Asp)
n.3839A>T
5g.13870887T>CCA443535340DNAH5c.3714A>G (p.Glu1238=)
c.3669A>G (p.Glu1223=)
n.3921A>G
c.3822A>G (p.Glu1274=)
c.2727A>G (p.Glu909=)
c.2316A>G (p.Glu772=)
n.3839A>G
5g.13870887T>GCA359231927DNAH5c.3714A>C (p.Glu1238Asp)
c.3669A>C (p.Glu1223Asp)
n.3921A>C
c.3822A>C (p.Glu1274Asp)
c.2727A>C (p.Glu909Asp)
c.2316A>C (p.Glu772Asp)
n.3839A>C
5g.13870888T>ACA359231932DNAH5c.3713A>T (p.Glu1238Val)
c.3668A>T (p.Glu1223Val)
n.3920A>T
c.3821A>T (p.Glu1274Val)
c.2726A>T (p.Glu909Val)
c.2315A>T (p.Glu772Val)
n.3838A>T
5g.13870888T>CCA359231931DNAH5c.3713A>G (p.Glu1238Gly)
c.3668A>G (p.Glu1223Gly)
n.3920A>G
c.3821A>G (p.Glu1274Gly)
c.2726A>G (p.Glu909Gly)
c.2315A>G (p.Glu772Gly)
n.3838A>G
5g.13870888T>GCA359231929DNAH5c.3713A>C (p.Glu1238Ala)
c.3668A>C (p.Glu1223Ala)
n.3920A>C
c.3821A>C (p.Glu1274Ala)
c.2726A>C (p.Glu909Ala)
c.2315A>C (p.Glu772Ala)
n.3838A>C
5g.13870889C>ACA359231935DNAH5c.3712G>T (p.Glu1238Ter)
c.3667G>T (p.Glu1223Ter)
n.3919G>T
c.3820G>T (p.Glu1274Ter)
c.2725G>T (p.Glu909Ter)
c.2314G>T (p.Glu772Ter)
n.3837G>T
 COSMIC
5g.13870889C=CA1528476411DNAH5c.3712G= (p.Glu1238=)
c.3667G= (p.Glu1223=)
n.3919G=
c.3820G= (p.Glu1274=)
c.2725G= (p.Glu909=)
c.2314G= (p.Glu772=)
n.3837G=
5g.13870889C>GCA359231933DNAH5c.3712G>C (p.Glu1238Gln)
c.3667G>C (p.Glu1223Gln)
n.3919G>C
c.3820G>C (p.Glu1274Gln)
c.2725G>C (p.Glu909Gln)
c.2314G>C (p.Glu772Gln)
n.3837G>C
 dbSNP gnomAD v2 gnomAD v4
5g.13870889C>TCA3204191DNAH5c.3712G>A (p.Glu1238Lys)
c.3667G>A (p.Glu1223Lys)
n.3919G>A
c.3820G>A (p.Glu1274Lys)
c.2725G>A (p.Glu909Lys)
c.2314G>A (p.Glu772Lys)
n.3837G>A
 dbSNP ExAC
5g.13870890T>ACA359231937DNAH5c.3711A>T (p.Glu1237Asp)
c.3666A>T (p.Glu1222Asp)
n.3918A>T
c.3819A>T (p.Glu1273Asp)
c.2724A>T (p.Glu908Asp)
c.2313A>T (p.Glu771Asp)
n.3836A>T
5g.13870890T>CCA443535341DNAH5c.3711A>G (p.Glu1237=)
c.3666A>G (p.Glu1222=)
n.3918A>G
c.3819A>G (p.Glu1273=)
c.2724A>G (p.Glu908=)
c.2313A>G (p.Glu771=)
n.3836A>G
 ClinVar dbSNP gnomAD v4
5g.13870890T>GCA359231938DNAH5c.3711A>C (p.Glu1237Asp)
c.3666A>C (p.Glu1222Asp)
n.3918A>C
c.3819A>C (p.Glu1273Asp)
c.2724A>C (p.Glu908Asp)
c.2313A>C (p.Glu771Asp)
n.3836A>C
5g.13870891T>ACA359231939DNAH5c.3710A>T (p.Glu1237Val)
c.3665A>T (p.Glu1222Val)
n.3917A>T
c.3818A>T (p.Glu1273Val)
c.2723A>T (p.Glu908Val)
c.2312A>T (p.Glu771Val)
n.3835A>T
5g.13870891T>CCA359231940DNAH5c.3710A>G (p.Glu1237Gly)
c.3665A>G (p.Glu1222Gly)
n.3917A>G
c.3818A>G (p.Glu1273Gly)
c.2723A>G (p.Glu908Gly)
c.2312A>G (p.Glu771Gly)
n.3835A>G
5g.13870891T>GCA359231942DNAH5c.3710A>C (p.Glu1237Ala)
c.3665A>C (p.Glu1222Ala)
n.3917A>C
c.3818A>C (p.Glu1273Ala)
c.2723A>C (p.Glu908Ala)
c.2312A>C (p.Glu771Ala)
n.3835A>C
5g.13870892C>ACA359231944DNAH5c.3709G>T (p.Glu1237Ter)
c.3664G>T (p.Glu1222Ter)
n.3916G>T
c.3817G>T (p.Glu1273Ter)
c.2722G>T (p.Glu908Ter)
c.2311G>T (p.Glu771Ter)
n.3834G>T
5g.13870892C>GCA359231948DNAH5c.3709G>C (p.Glu1237Gln)
c.3664G>C (p.Glu1222Gln)
n.3916G>C
c.3817G>C (p.Glu1273Gln)
c.2722G>C (p.Glu908Gln)
c.2311G>C (p.Glu771Gln)
n.3834G>C
5g.13870892C>TCA359231946DNAH5c.3709G>A (p.Glu1237Lys)
c.3664G>A (p.Glu1222Lys)
n.3916G>A
c.3817G>A (p.Glu1273Lys)
c.2722G>A (p.Glu908Lys)
c.2311G>A (p.Glu771Lys)
n.3834G>A
5g.13870893A=CA1528476414DNAH5c.3708T= (p.Ile1236=)
c.3663T= (p.Ile1221=)
n.3915T=
c.3816T= (p.Ile1272=)
c.2721T= (p.Ile907=)
c.2310T= (p.Ile770=)
n.3833T=
5g.13870893A>CCA359231949DNAH5c.3708T>G (p.Ile1236Met)
c.3663T>G (p.Ile1221Met)
n.3915T>G
c.3816T>G (p.Ile1272Met)
c.2721T>G (p.Ile907Met)
c.2310T>G (p.Ile770Met)
n.3833T>G
 ClinVar dbSNP gnomAD v4
5g.13870893A>GCA443535342DNAH5c.3708T>C (p.Ile1236=)
c.3663T>C (p.Ile1221=)
n.3915T>C
c.3816T>C (p.Ile1272=)
c.2721T>C (p.Ile907=)
c.2310T>C (p.Ile770=)
n.3833T>C
5g.13870893A>TCA443535343DNAH5c.3708T>A (p.Ile1236=)
c.3663T>A (p.Ile1221=)
n.3915T>A
c.3816T>A (p.Ile1272=)
c.2721T>A (p.Ile907=)
c.2310T>A (p.Ile770=)
n.3833T>A
5g.13870894A=CA1528476416DNAH5c.3707T= (p.Ile1236=)
c.3662T= (p.Ile1221=)
n.3914T=
c.3815T= (p.Ile1272=)
c.2720T= (p.Ile907=)
c.2309T= (p.Ile770=)
n.3832T=
5g.13870894A>CCA359231951DNAH5c.3707T>G (p.Ile1236Ser)
c.3662T>G (p.Ile1221Ser)
n.3914T>G
c.3815T>G (p.Ile1272Ser)
c.2720T>G (p.Ile907Ser)
c.2309T>G (p.Ile770Ser)
n.3832T>G
5g.13870894A>GCA3204192DNAH5c.3707T>C (p.Ile1236Thr)
c.3662T>C (p.Ile1221Thr)
n.3914T>C
c.3815T>C (p.Ile1272Thr)
c.2720T>C (p.Ile907Thr)
c.2309T>C (p.Ile770Thr)
n.3832T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870894A>TCA359231953DNAH5c.3707T>A (p.Ile1236Asn)
c.3662T>A (p.Ile1221Asn)
n.3914T>A
c.3815T>A (p.Ile1272Asn)
c.2720T>A (p.Ile907Asn)
c.2309T>A (p.Ile770Asn)
n.3832T>A
5g.13870895T>ACA359231955DNAH5c.3706A>T (p.Ile1236Phe)
c.3661A>T (p.Ile1221Phe)
n.3913A>T
c.3814A>T (p.Ile1272Phe)
c.2719A>T (p.Ile907Phe)
c.2308A>T (p.Ile770Phe)
n.3831A>T
 gnomAD v4
5g.13870895T>CCA359231960DNAH5c.3706A>G (p.Ile1236Val)
c.3661A>G (p.Ile1221Val)
n.3913A>G
c.3814A>G (p.Ile1272Val)
c.2719A>G (p.Ile907Val)
c.2308A>G (p.Ile770Val)
n.3831A>G
 gnomAD v4
5g.13870895T>GCA359231957DNAH5c.3706A>C (p.Ile1236Leu)
c.3661A>C (p.Ile1221Leu)
n.3913A>C
c.3814A>C (p.Ile1272Leu)
c.2719A>C (p.Ile907Leu)
c.2308A>C (p.Ile770Leu)
n.3831A>C
5g.13870896A>CCA443535344DNAH5c.3705T>G (p.Leu1235=)
c.3660T>G (p.Leu1220=)
n.3912T>G
c.3813T>G (p.Leu1271=)
c.2718T>G (p.Leu906=)
c.2307T>G (p.Leu769=)
n.3830T>G
5g.13870896A>GCA443535345DNAH5c.3705T>C (p.Leu1235=)
c.3660T>C (p.Leu1220=)
n.3912T>C
c.3813T>C (p.Leu1271=)
c.2718T>C (p.Leu906=)
c.2307T>C (p.Leu769=)
n.3830T>C
5g.13870896A>TCA443535346DNAH5c.3705T>A (p.Leu1235=)
c.3660T>A (p.Leu1220=)
n.3912T>A
c.3813T>A (p.Leu1271=)
c.2718T>A (p.Leu906=)
c.2307T>A (p.Leu769=)
n.3830T>A
5g.13870897A>CCA359231962DNAH5c.3704T>G (p.Leu1235Arg)
c.3659T>G (p.Leu1220Arg)
n.3911T>G
c.3812T>G (p.Leu1271Arg)
c.2717T>G (p.Leu906Arg)
c.2306T>G (p.Leu769Arg)
n.3829T>G
5g.13870897A>GCA359231964DNAH5c.3704T>C (p.Leu1235Pro)
c.3659T>C (p.Leu1220Pro)
n.3911T>C
c.3812T>C (p.Leu1271Pro)
c.2717T>C (p.Leu906Pro)
c.2306T>C (p.Leu769Pro)
n.3829T>C
5g.13870897A>TCA359231966DNAH5c.3704T>A (p.Leu1235His)
c.3659T>A (p.Leu1220His)
n.3911T>A
c.3812T>A (p.Leu1271His)
c.2717T>A (p.Leu906His)
c.2306T>A (p.Leu769His)
n.3829T>A
5g.13870898G>ACA113981379DNAH5c.3703C>T (p.Leu1235Phe)
c.3658C>T (p.Leu1220Phe)
n.3910C>T
c.3811C>T (p.Leu1271Phe)
c.2716C>T (p.Leu906Phe)
c.2305C>T (p.Leu769Phe)
n.3828C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13870898G>CCA3204193DNAH5c.3703C>G (p.Leu1235Val)
c.3658C>G (p.Leu1220Val)
n.3910C>G
c.3811C>G (p.Leu1271Val)
c.2716C>G (p.Leu906Val)
c.2305C>G (p.Leu769Val)
n.3828C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13870898G=CA1528476418DNAH5c.3703C= (p.Leu1235=)
c.3658C= (p.Leu1220=)
n.3910C=
c.3811C= (p.Leu1271=)
c.2716C= (p.Leu906=)
c.2305C= (p.Leu769=)
n.3828C=
5g.13870898G>TCA359231969DNAH5c.3703C>A (p.Leu1235Ile)
c.3658C>A (p.Leu1220Ile)
n.3910C>A
c.3811C>A (p.Leu1271Ile)
c.2716C>A (p.Leu906Ile)
c.2305C>A (p.Leu769Ile)
n.3828C>A
5g.13870899C>ACA359231971DNAH5c.3702G>T (p.Met1234Ile)
c.3657G>T (p.Met1219Ile)
n.3909G>T
c.3810G>T (p.Met1270Ile)
c.2715G>T (p.Met905Ile)
c.2304G>T (p.Met768Ile)
n.3827G>T
5g.13870899C>GCA359231972DNAH5c.3702G>C (p.Met1234Ile)
c.3657G>C (p.Met1219Ile)
n.3909G>C
c.3810G>C (p.Met1270Ile)
c.2715G>C (p.Met905Ile)
c.2304G>C (p.Met768Ile)
n.3827G>C
5g.13870899C>TCA359231973DNAH5c.3702G>A (p.Met1234Ile)
c.3657G>A (p.Met1219Ile)
n.3909G>A
c.3810G>A (p.Met1270Ile)
c.2715G>A (p.Met905Ile)
c.2304G>A (p.Met768Ile)
n.3827G>A
5g.13870900A=CA1528476422DNAH5c.3701T= (p.Met1234=)
c.3656T= (p.Met1219=)
n.3908T=
c.3809T= (p.Met1270=)
c.2714T= (p.Met905=)
c.2303T= (p.Met768=)
n.3826T=
5g.13870900A>CCA359231979DNAH5c.3701T>G (p.Met1234Arg)
c.3656T>G (p.Met1219Arg)
n.3908T>G
c.3809T>G (p.Met1270Arg)
c.2714T>G (p.Met905Arg)
c.2303T>G (p.Met768Arg)
n.3826T>G
5g.13870900A>GCA3204194DNAH5c.3701T>C (p.Met1234Thr)
c.3656T>C (p.Met1219Thr)
n.3908T>C
c.3809T>C (p.Met1270Thr)
c.2714T>C (p.Met905Thr)
c.2303T>C (p.Met768Thr)
n.3826T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13870900A>TCA359231981DNAH5c.3701T>A (p.Met1234Lys)
c.3656T>A (p.Met1219Lys)
n.3908T>A
c.3809T>A (p.Met1270Lys)
c.2714T>A (p.Met905Lys)
c.2303T>A (p.Met768Lys)
n.3826T>A
5g.13870901T>ACA359231984DNAH5c.3700A>T (p.Met1234Leu)
c.3655A>T (p.Met1219Leu)
n.3907A>T
c.3808A>T (p.Met1270Leu)
c.2713A>T (p.Met905Leu)
c.2302A>T (p.Met768Leu)
n.3825A>T
5g.13870901T>CCA359231985DNAH5c.3700A>G (p.Met1234Val)
c.3655A>G (p.Met1219Val)
n.3907A>G
c.3808A>G (p.Met1270Val)
c.2713A>G (p.Met905Val)
c.2302A>G (p.Met768Val)
n.3825A>G
 dbSNP gnomAD v2
5g.13870901T>GCA359231982DNAH5c.3700A>C (p.Met1234Leu)
c.3655A>C (p.Met1219Leu)
n.3907A>C
c.3808A>C (p.Met1270Leu)
c.2713A>C (p.Met905Leu)
c.2302A>C (p.Met768Leu)
n.3825A>C
5g.13870901T=CA1528476425DNAH5c.3700A= (p.Met1234=)
c.3655A= (p.Met1219=)
n.3907A=
c.3808A= (p.Met1270=)
c.2713A= (p.Met905=)
c.2302A= (p.Met768=)
n.3825A=
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

Number of alleles fetched