Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13770809A=CA1528431194DNAH5c.9545T= (p.Ile3182=)
c.9500T= (p.Ile3167=)
n.257T=
c.9653T= (p.Ile3218=)
c.8558T= (p.Ile2853=)
c.4742T= (p.Ile1581=)
c.4295T= (p.Ile1432=)
c.3632T= (p.Ile1211=)
c.8147T= (p.Ile2716=)
5g.13770809A>CCA359204405DNAH5c.9545T>G (p.Ile3182Ser)
c.9500T>G (p.Ile3167Ser)
n.257T>G
c.9653T>G (p.Ile3218Ser)
c.8558T>G (p.Ile2853Ser)
c.4742T>G (p.Ile1581Ser)
c.4295T>G (p.Ile1432Ser)
c.3632T>G (p.Ile1211Ser)
c.8147T>G (p.Ile2716Ser)
5g.13770809A>GCA359204406DNAH5c.9545T>C (p.Ile3182Thr)
c.9500T>C (p.Ile3167Thr)
n.257T>C
c.9653T>C (p.Ile3218Thr)
c.8558T>C (p.Ile2853Thr)
c.4742T>C (p.Ile1581Thr)
c.4295T>C (p.Ile1432Thr)
c.3632T>C (p.Ile1211Thr)
c.8147T>C (p.Ile2716Thr)
 dbSNP
5g.13770809A>TCA359204408DNAH5c.9545T>A (p.Ile3182Asn)
c.9500T>A (p.Ile3167Asn)
n.257T>A
c.9653T>A (p.Ile3218Asn)
c.8558T>A (p.Ile2853Asn)
c.4742T>A (p.Ile1581Asn)
c.4295T>A (p.Ile1432Asn)
c.3632T>A (p.Ile1211Asn)
c.8147T>A (p.Ile2716Asn)
5g.13770810delCA2673268301DNAH5c.9544del (p.Ile3182PhefsTer22)
c.9499del (p.Ile3167PhefsTer22)
n.256del
c.9652del (p.Ile3218PhefsTer22)
c.8557del (p.Ile2853PhefsTer22)
c.9652del (p.Ile3218PhefsTer?)
c.4741del (p.Ile1581PhefsTer22)
c.4294del (p.Ile1432PhefsTer22)
c.3631del (p.Ile1211PhefsTer22)
c.8146del (p.Ile2716PhefsTer22)
 gnomAD v4
5g.13770810T>ACA359204413DNAH5c.9544A>T (p.Ile3182Phe)
c.9499A>T (p.Ile3167Phe)
n.256A>T
c.9652A>T (p.Ile3218Phe)
c.8557A>T (p.Ile2853Phe)
c.4741A>T (p.Ile1581Phe)
c.4294A>T (p.Ile1432Phe)
c.3631A>T (p.Ile1211Phe)
c.8146A>T (p.Ile2716Phe)
 gnomAD v4
5g.13770810T>CCA359204412DNAH5c.9544A>G (p.Ile3182Val)
c.9499A>G (p.Ile3167Val)
n.256A>G
c.9652A>G (p.Ile3218Val)
c.8557A>G (p.Ile2853Val)
c.4741A>G (p.Ile1581Val)
c.4294A>G (p.Ile1432Val)
c.3631A>G (p.Ile1211Val)
c.8146A>G (p.Ile2716Val)
 gnomAD v4
5g.13770810T>GCA113932883DNAH5c.9544A>C (p.Ile3182Leu)
c.9499A>C (p.Ile3167Leu)
n.256A>C
c.9652A>C (p.Ile3218Leu)
c.8557A>C (p.Ile2853Leu)
c.4741A>C (p.Ile1581Leu)
c.4294A>C (p.Ile1432Leu)
c.3631A>C (p.Ile1211Leu)
c.8146A>C (p.Ile2716Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13770810T=CA1528431195DNAH5c.9544A= (p.Ile3182=)
c.9499A= (p.Ile3167=)
n.256A=
c.9652A= (p.Ile3218=)
c.8557A= (p.Ile2853=)
c.4741A= (p.Ile1581=)
c.4294A= (p.Ile1432=)
c.3631A= (p.Ile1211=)
c.8146A= (p.Ile2716=)
5g.13770811A>CCA359204414DNAH5c.9543T>G (p.Phe3181Leu)
c.9498T>G (p.Phe3166Leu)
n.255T>G
c.9651T>G (p.Phe3217Leu)
c.8556T>G (p.Phe2852Leu)
c.4740T>G (p.Phe1580Leu)
c.4293T>G (p.Phe1431Leu)
c.3630T>G (p.Phe1210Leu)
c.8145T>G (p.Phe2715Leu)
 gnomAD v4
5g.13770811A>GCA443535544DNAH5c.9543T>C (p.Phe3181=)
c.9498T>C (p.Phe3166=)
n.255T>C
c.9651T>C (p.Phe3217=)
c.8556T>C (p.Phe2852=)
c.4740T>C (p.Phe1580=)
c.4293T>C (p.Phe1431=)
c.3630T>C (p.Phe1210=)
c.8145T>C (p.Phe2715=)
 ClinVar dbSNP
5g.13770811A>TCA359204415DNAH5c.9543T>A (p.Phe3181Leu)
c.9498T>A (p.Phe3166Leu)
n.255T>A
c.9651T>A (p.Phe3217Leu)
c.8556T>A (p.Phe2852Leu)
c.4740T>A (p.Phe1580Leu)
c.4293T>A (p.Phe1431Leu)
c.3630T>A (p.Phe1210Leu)
c.8145T>A (p.Phe2715Leu)
5g.13770812A>CCA359204416DNAH5c.9542T>G (p.Phe3181Cys)
c.9497T>G (p.Phe3166Cys)
n.254T>G
c.9650T>G (p.Phe3217Cys)
c.8555T>G (p.Phe2852Cys)
c.4739T>G (p.Phe1580Cys)
c.4292T>G (p.Phe1431Cys)
c.3629T>G (p.Phe1210Cys)
c.8144T>G (p.Phe2715Cys)
5g.13770812A>GCA359204418DNAH5c.9542T>C (p.Phe3181Ser)
c.9497T>C (p.Phe3166Ser)
n.254T>C
c.9650T>C (p.Phe3217Ser)
c.8555T>C (p.Phe2852Ser)
c.4739T>C (p.Phe1580Ser)
c.4292T>C (p.Phe1431Ser)
c.3629T>C (p.Phe1210Ser)
c.8144T>C (p.Phe2715Ser)
5g.13770812A>TCA359204419DNAH5c.9542T>A (p.Phe3181Tyr)
c.9497T>A (p.Phe3166Tyr)
n.254T>A
c.9650T>A (p.Phe3217Tyr)
c.8555T>A (p.Phe2852Tyr)
c.4739T>A (p.Phe1580Tyr)
c.4292T>A (p.Phe1431Tyr)
c.3629T>A (p.Phe1210Tyr)
c.8144T>A (p.Phe2715Tyr)
5g.13770813A>CCA359204426DNAH5c.9541T>G (p.Phe3181Val)
c.9496T>G (p.Phe3166Val)
n.253T>G
c.9649T>G (p.Phe3217Val)
c.8554T>G (p.Phe2852Val)
c.4738T>G (p.Phe1580Val)
c.4291T>G (p.Phe1431Val)
c.3628T>G (p.Phe1210Val)
c.8143T>G (p.Phe2715Val)
5g.13770813A>GCA359204425DNAH5c.9541T>C (p.Phe3181Leu)
c.9496T>C (p.Phe3166Leu)
n.253T>C
c.9649T>C (p.Phe3217Leu)
c.8554T>C (p.Phe2852Leu)
c.4738T>C (p.Phe1580Leu)
c.4291T>C (p.Phe1431Leu)
c.3628T>C (p.Phe1210Leu)
c.8143T>C (p.Phe2715Leu)
5g.13770813A>TCA359204420DNAH5c.9541T>A (p.Phe3181Ile)
c.9496T>A (p.Phe3166Ile)
n.253T>A
c.9649T>A (p.Phe3217Ile)
c.8554T>A (p.Phe2852Ile)
c.4738T>A (p.Phe1580Ile)
c.4291T>A (p.Phe1431Ile)
c.3628T>A (p.Phe1210Ile)
c.8143T>A (p.Phe2715Ile)
5g.13770814G>ACA443535546DNAH5c.9540C>T (p.Ser3180=)
c.9495C>T (p.Ser3165=)
n.252C>T
c.9648C>T (p.Ser3216=)
c.8553C>T (p.Ser2851=)
c.4737C>T (p.Ser1579=)
c.4290C>T (p.Ser1430=)
c.3627C>T (p.Ser1209=)
c.8142C>T (p.Ser2714=)
5g.13770814G>CCA443535547DNAH5c.9540C>G (p.Ser3180=)
c.9495C>G (p.Ser3165=)
n.252C>G
c.9648C>G (p.Ser3216=)
c.8553C>G (p.Ser2851=)
c.4737C>G (p.Ser1579=)
c.4290C>G (p.Ser1430=)
c.3627C>G (p.Ser1209=)
c.8142C>G (p.Ser2714=)
5g.13770814G>TCA443535548DNAH5c.9540C>A (p.Ser3180=)
c.9495C>A (p.Ser3165=)
n.252C>A
c.9648C>A (p.Ser3216=)
c.8553C>A (p.Ser2851=)
c.4737C>A (p.Ser1579=)
c.4290C>A (p.Ser1430=)
c.3627C>A (p.Ser1209=)
c.8142C>A (p.Ser2714=)
5g.13770815delCA2499217610DNAH5c.9540del (p.Phe3181LeufsTer23)
c.9495del (p.Phe3166LeufsTer23)
n.252del
c.9648del (p.Phe3217LeufsTer23)
c.8553del (p.Phe2852LeufsTer23)
c.9648del (p.Phe3217LeufsTer?)
c.4737del (p.Phe1580LeufsTer23)
c.4290del (p.Phe1431LeufsTer23)
c.3627del (p.Phe1210LeufsTer23)
c.8142del (p.Phe2715LeufsTer23)
 ClinVar dbSNP
5g.13770815G>ACA359204429DNAH5c.9539C>T (p.Ser3180Phe)
c.9494C>T (p.Ser3165Phe)
n.251C>T
c.9647C>T (p.Ser3216Phe)
c.8552C>T (p.Ser2851Phe)
c.4736C>T (p.Ser1579Phe)
c.4289C>T (p.Ser1430Phe)
c.3626C>T (p.Ser1209Phe)
c.8141C>T (p.Ser2714Phe)
 gnomAD v4
5g.13770815G>CCA359204430DNAH5c.9539C>G (p.Ser3180Cys)
c.9494C>G (p.Ser3165Cys)
n.251C>G
c.9647C>G (p.Ser3216Cys)
c.8552C>G (p.Ser2851Cys)
c.4736C>G (p.Ser1579Cys)
c.4289C>G (p.Ser1430Cys)
c.3626C>G (p.Ser1209Cys)
c.8141C>G (p.Ser2714Cys)
5g.13770815G>TCA359204432DNAH5c.9539C>A (p.Ser3180Tyr)
c.9494C>A (p.Ser3165Tyr)
n.251C>A
c.9647C>A (p.Ser3216Tyr)
c.8552C>A (p.Ser2851Tyr)
c.4736C>A (p.Ser1579Tyr)
c.4289C>A (p.Ser1430Tyr)
c.3626C>A (p.Ser1209Tyr)
c.8141C>A (p.Ser2714Tyr)
5g.13770815_13770816delinsAGCA2580072361DNAH5c.9538_9539delinsCT (p.Ser3180Leu)
c.9493_9494delinsCT (p.Ser3165Leu)
n.250_251delinsCT
c.9646_9647delinsCT (p.Ser3216Leu)
c.8551_8552delinsCT (p.Ser2851Leu)
c.4735_4736delinsCT (p.Ser1579Leu)
c.4288_4289delinsCT (p.Ser1430Leu)
c.3625_3626delinsCT (p.Ser1209Leu)
c.8140_8141delinsCT (p.Ser2714Leu)
 ClinVar
5g.13770816A=CA1528431196DNAH5c.9538T= (p.Ser3180=)
c.9493T= (p.Ser3165=)
n.250T=
c.9646T= (p.Ser3216=)
c.8551T= (p.Ser2851=)
c.4735T= (p.Ser1579=)
c.4288T= (p.Ser1430=)
c.3625T= (p.Ser1209=)
c.8140T= (p.Ser2714=)
5g.13770816A>CCA359204434DNAH5c.9538T>G (p.Ser3180Ala)
c.9493T>G (p.Ser3165Ala)
n.250T>G
c.9646T>G (p.Ser3216Ala)
c.8551T>G (p.Ser2851Ala)
c.4735T>G (p.Ser1579Ala)
c.4288T>G (p.Ser1430Ala)
c.3625T>G (p.Ser1209Ala)
c.8140T>G (p.Ser2714Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770816A>GCA113932891DNAH5c.9538T>C (p.Ser3180Pro)
c.9493T>C (p.Ser3165Pro)
n.250T>C
c.9646T>C (p.Ser3216Pro)
c.8551T>C (p.Ser2851Pro)
c.4735T>C (p.Ser1579Pro)
c.4288T>C (p.Ser1430Pro)
c.3625T>C (p.Ser1209Pro)
c.8140T>C (p.Ser2714Pro)
 dbSNP gnomAD v4
5g.13770816A>TCA359204437DNAH5c.9538T>A (p.Ser3180Thr)
c.9493T>A (p.Ser3165Thr)
n.250T>A
c.9646T>A (p.Ser3216Thr)
c.8551T>A (p.Ser2851Thr)
c.4735T>A (p.Ser1579Thr)
c.4288T>A (p.Ser1430Thr)
c.3625T>A (p.Ser1209Thr)
c.8140T>A (p.Ser2714Thr)
5g.13770817G>ACA443535552DNAH5c.9537C>T (p.Leu3179=)
c.9492C>T (p.Leu3164=)
n.249C>T
c.9645C>T (p.Leu3215=)
c.8550C>T (p.Leu2850=)
c.4734C>T (p.Leu1578=)
c.4287C>T (p.Leu1429=)
c.3624C>T (p.Leu1208=)
c.8139C>T (p.Leu2713=)
5g.13770817G>CCA443535553DNAH5c.9537C>G (p.Leu3179=)
c.9492C>G (p.Leu3164=)
n.249C>G
c.9645C>G (p.Leu3215=)
c.8550C>G (p.Leu2850=)
c.4734C>G (p.Leu1578=)
c.4287C>G (p.Leu1429=)
c.3624C>G (p.Leu1208=)
c.8139C>G (p.Leu2713=)
5g.13770817G>TCA443535554DNAH5c.9537C>A (p.Leu3179=)
c.9492C>A (p.Leu3164=)
n.249C>A
c.9645C>A (p.Leu3215=)
c.8550C>A (p.Leu2850=)
c.4734C>A (p.Leu1578=)
c.4287C>A (p.Leu1429=)
c.3624C>A (p.Leu1208=)
c.8139C>A (p.Leu2713=)
5g.13770818A>CCA359204441DNAH5c.9536T>G (p.Leu3179Arg)
c.9491T>G (p.Leu3164Arg)
n.248T>G
c.9644T>G (p.Leu3215Arg)
c.8549T>G (p.Leu2850Arg)
c.4733T>G (p.Leu1578Arg)
c.4286T>G (p.Leu1429Arg)
c.3623T>G (p.Leu1208Arg)
c.8138T>G (p.Leu2713Arg)
5g.13770818A>GCA359204452DNAH5c.9536T>C (p.Leu3179Pro)
c.9491T>C (p.Leu3164Pro)
n.248T>C
c.9644T>C (p.Leu3215Pro)
c.8549T>C (p.Leu2850Pro)
c.4733T>C (p.Leu1578Pro)
c.4286T>C (p.Leu1429Pro)
c.3623T>C (p.Leu1208Pro)
c.8138T>C (p.Leu2713Pro)
5g.13770818A>TCA359204449DNAH5c.9536T>A (p.Leu3179His)
c.9491T>A (p.Leu3164His)
n.248T>A
c.9644T>A (p.Leu3215His)
c.8549T>A (p.Leu2850His)
c.4733T>A (p.Leu1578His)
c.4286T>A (p.Leu1429His)
c.3623T>A (p.Leu1208His)
c.8138T>A (p.Leu2713His)
5g.13770819G>ACA359204455DNAH5c.9535C>T (p.Leu3179Phe)
c.9490C>T (p.Leu3164Phe)
n.247C>T
c.9643C>T (p.Leu3215Phe)
c.8548C>T (p.Leu2850Phe)
c.4732C>T (p.Leu1578Phe)
c.4285C>T (p.Leu1429Phe)
c.3622C>T (p.Leu1208Phe)
c.8137C>T (p.Leu2713Phe)
 dbSNP COSMIC
5g.13770819G>CCA359204456DNAH5c.9535C>G (p.Leu3179Val)
c.9490C>G (p.Leu3164Val)
n.247C>G
c.9643C>G (p.Leu3215Val)
c.8548C>G (p.Leu2850Val)
c.4732C>G (p.Leu1578Val)
c.4285C>G (p.Leu1429Val)
c.3622C>G (p.Leu1208Val)
c.8137C>G (p.Leu2713Val)
 gnomAD v4
5g.13770819G=CA1528431197DNAH5c.9535C= (p.Leu3179=)
c.9490C= (p.Leu3164=)
n.247C=
c.9643C= (p.Leu3215=)
c.8548C= (p.Leu2850=)
c.4732C= (p.Leu1578=)
c.4285C= (p.Leu1429=)
c.3622C= (p.Leu1208=)
c.8137C= (p.Leu2713=)
5g.13770819G>TCA359204457DNAH5c.9535C>A (p.Leu3179Ile)
c.9490C>A (p.Leu3164Ile)
n.247C>A
c.9643C>A (p.Leu3215Ile)
c.8548C>A (p.Leu2850Ile)
c.4732C>A (p.Leu1578Ile)
c.4285C>A (p.Leu1429Ile)
c.3622C>A (p.Leu1208Ile)
c.8137C>A (p.Leu2713Ile)
5g.13770820G>ACA443535558DNAH5c.9534C>T (p.Tyr3178=)
c.9489C>T (p.Tyr3163=)
n.246C>T
c.9642C>T (p.Tyr3214=)
c.8547C>T (p.Tyr2849=)
c.4731C>T (p.Tyr1577=)
c.4284C>T (p.Tyr1428=)
c.3621C>T (p.Tyr1207=)
c.8136C>T (p.Tyr2712=)
 COSMIC
5g.13770820G>CCA359204461DNAH5c.9534C>G (p.Tyr3178Ter)
c.9489C>G (p.Tyr3163Ter)
n.246C>G
c.9642C>G (p.Tyr3214Ter)
c.8547C>G (p.Tyr2849Ter)
c.4731C>G (p.Tyr1577Ter)
c.4284C>G (p.Tyr1428Ter)
c.3621C>G (p.Tyr1207Ter)
c.8136C>G (p.Tyr2712Ter)
5g.13770820G=CA1528431198DNAH5c.9534C= (p.Tyr3178=)
c.9489C= (p.Tyr3163=)
n.246C=
c.9642C= (p.Tyr3214=)
c.8547C= (p.Tyr2849=)
c.4731C= (p.Tyr1577=)
c.4284C= (p.Tyr1428=)
c.3621C= (p.Tyr1207=)
c.8136C= (p.Tyr2712=)
5g.13770820G>TCA359204463DNAH5c.9534C>A (p.Tyr3178Ter)
c.9489C>A (p.Tyr3163Ter)
n.246C>A
c.9642C>A (p.Tyr3214Ter)
c.8547C>A (p.Tyr2849Ter)
c.4731C>A (p.Tyr1577Ter)
c.4284C>A (p.Tyr1428Ter)
c.3621C>A (p.Tyr1207Ter)
c.8136C>A (p.Tyr2712Ter)
 ClinVar dbSNP
5g.13770821T>ACA359204466DNAH5c.9533A>T (p.Tyr3178Phe)
c.9488A>T (p.Tyr3163Phe)
n.245A>T
c.9641A>T (p.Tyr3214Phe)
c.8546A>T (p.Tyr2849Phe)
c.4730A>T (p.Tyr1577Phe)
c.4283A>T (p.Tyr1428Phe)
c.3620A>T (p.Tyr1207Phe)
c.8135A>T (p.Tyr2712Phe)
5g.13770821T>CCA359204468DNAH5c.9533A>G (p.Tyr3178Cys)
c.9488A>G (p.Tyr3163Cys)
n.245A>G
c.9641A>G (p.Tyr3214Cys)
c.8546A>G (p.Tyr2849Cys)
c.4730A>G (p.Tyr1577Cys)
c.4283A>G (p.Tyr1428Cys)
c.3620A>G (p.Tyr1207Cys)
c.8135A>G (p.Tyr2712Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.13770821T>GCA359204471DNAH5c.9533A>C (p.Tyr3178Ser)
c.9488A>C (p.Tyr3163Ser)
n.245A>C
c.9641A>C (p.Tyr3214Ser)
c.8546A>C (p.Tyr2849Ser)
c.4730A>C (p.Tyr1577Ser)
c.4283A>C (p.Tyr1428Ser)
c.3620A>C (p.Tyr1207Ser)
c.8135A>C (p.Tyr2712Ser)
5g.13770821T=CA1528431199DNAH5c.9533A= (p.Tyr3178=)
c.9488A= (p.Tyr3163=)
n.245A=
c.9641A= (p.Tyr3214=)
c.8546A= (p.Tyr2849=)
c.4730A= (p.Tyr1577=)
c.4283A= (p.Tyr1428=)
c.3620A= (p.Tyr1207=)
c.8135A= (p.Tyr2712=)
5g.13770822A>CCA359204475DNAH5c.9532T>G (p.Tyr3178Asp)
c.9487T>G (p.Tyr3163Asp)
n.244T>G
c.9640T>G (p.Tyr3214Asp)
c.8545T>G (p.Tyr2849Asp)
c.4729T>G (p.Tyr1577Asp)
c.4282T>G (p.Tyr1428Asp)
c.3619T>G (p.Tyr1207Asp)
c.8134T>G (p.Tyr2712Asp)
5g.13770822A>GCA359204477DNAH5c.9532T>C (p.Tyr3178His)
c.9487T>C (p.Tyr3163His)
n.244T>C
c.9640T>C (p.Tyr3214His)
c.8545T>C (p.Tyr2849His)
c.4729T>C (p.Tyr1577His)
c.4282T>C (p.Tyr1428His)
c.3619T>C (p.Tyr1207His)
c.8134T>C (p.Tyr2712His)
 gnomAD v4
5g.13770822A>TCA359204478DNAH5c.9532T>A (p.Tyr3178Asn)
c.9487T>A (p.Tyr3163Asn)
n.244T>A
c.9640T>A (p.Tyr3214Asn)
c.8545T>A (p.Tyr2849Asn)
c.4729T>A (p.Tyr1577Asn)
c.4282T>A (p.Tyr1428Asn)
c.3619T>A (p.Tyr1207Asn)
c.8134T>A (p.Tyr2712Asn)
5g.13770822dupCA3202524DNAH5c.9532dup (p.Tyr3178LeufsTer9)
c.9487dup (p.Tyr3163LeufsTer9)
n.244dup
c.9640dup (p.Tyr3214LeufsTer9)
c.8545dup (p.Tyr2849LeufsTer9)
c.4729dup (p.Tyr1577LeufsTer9)
c.4282dup (p.Tyr1428LeufsTer9)
c.3619dup (p.Tyr1207LeufsTer9)
c.8134dup (p.Tyr2712LeufsTer9)
 dbSNP ExAC gnomAD v2
5g.13770823T>ACA443535563DNAH5c.9531A>T (p.Ser3177=)
c.9486A>T (p.Ser3162=)
n.243A>T
c.9639A>T (p.Ser3213=)
c.8544A>T (p.Ser2848=)
c.4728A>T (p.Ser1576=)
c.4281A>T (p.Ser1427=)
c.3618A>T (p.Ser1206=)
c.8133A>T (p.Ser2711=)
 gnomAD v4
5g.13770823T>CCA3202525DNAH5c.9531A>G (p.Ser3177=)
c.9486A>G (p.Ser3162=)
n.243A>G
c.9639A>G (p.Ser3213=)
c.8544A>G (p.Ser2848=)
c.4728A>G (p.Ser1576=)
c.4281A>G (p.Ser1427=)
c.3618A>G (p.Ser1206=)
c.8133A>G (p.Ser2711=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770823T>GCA443535564DNAH5c.9531A>C (p.Ser3177=)
c.9486A>C (p.Ser3162=)
n.243A>C
c.9639A>C (p.Ser3213=)
c.8544A>C (p.Ser2848=)
c.4728A>C (p.Ser1576=)
c.4281A>C (p.Ser1427=)
c.3618A>C (p.Ser1206=)
c.8133A>C (p.Ser2711=)
5g.13770823T=CA1528431200DNAH5c.9531A= (p.Ser3177=)
c.9486A= (p.Ser3162=)
n.243A=
c.9639A= (p.Ser3213=)
c.8544A= (p.Ser2848=)
c.4728A= (p.Ser1576=)
c.4281A= (p.Ser1427=)
c.3618A= (p.Ser1206=)
c.8133A= (p.Ser2711=)
5g.13770824G>ACA359204485DNAH5c.9530C>T (p.Ser3177Leu)
c.9485C>T (p.Ser3162Leu)
n.242C>T
c.9638C>T (p.Ser3213Leu)
c.8543C>T (p.Ser2848Leu)
c.4727C>T (p.Ser1576Leu)
c.4280C>T (p.Ser1427Leu)
c.3617C>T (p.Ser1206Leu)
c.8132C>T (p.Ser2711Leu)
 COSMIC
5g.13770824G>CCA359204481DNAH5c.9530C>G (p.Ser3177Ter)
c.9485C>G (p.Ser3162Ter)
n.242C>G
c.9638C>G (p.Ser3213Ter)
c.8543C>G (p.Ser2848Ter)
c.4727C>G (p.Ser1576Ter)
c.4280C>G (p.Ser1427Ter)
c.3617C>G (p.Ser1206Ter)
c.8132C>G (p.Ser2711Ter)
5g.13770824G>TCA359204487DNAH5c.9530C>A (p.Ser3177Ter)
c.9485C>A (p.Ser3162Ter)
n.242C>A
c.9638C>A (p.Ser3213Ter)
c.8543C>A (p.Ser2848Ter)
c.4727C>A (p.Ser1576Ter)
c.4280C>A (p.Ser1427Ter)
c.3617C>A (p.Ser1206Ter)
c.8132C>A (p.Ser2711Ter)
 ClinVar gnomAD v4
5g.13770825A>CCA359204491DNAH5c.9529T>G (p.Ser3177Ala)
c.9484T>G (p.Ser3162Ala)
n.241T>G
c.9637T>G (p.Ser3213Ala)
c.8542T>G (p.Ser2848Ala)
c.4726T>G (p.Ser1576Ala)
c.4279T>G (p.Ser1427Ala)
c.3616T>G (p.Ser1206Ala)
c.8131T>G (p.Ser2711Ala)
5g.13770825A>GCA359204496DNAH5c.9529T>C (p.Ser3177Pro)
c.9484T>C (p.Ser3162Pro)
n.241T>C
c.9637T>C (p.Ser3213Pro)
c.8542T>C (p.Ser2848Pro)
c.4726T>C (p.Ser1576Pro)
c.4279T>C (p.Ser1427Pro)
c.3616T>C (p.Ser1206Pro)
c.8131T>C (p.Ser2711Pro)
5g.13770825A>TCA359204494DNAH5c.9529T>A (p.Ser3177Thr)
c.9484T>A (p.Ser3162Thr)
n.241T>A
c.9637T>A (p.Ser3213Thr)
c.8542T>A (p.Ser2848Thr)
c.4726T>A (p.Ser1576Thr)
c.4279T>A (p.Ser1427Thr)
c.3616T>A (p.Ser1206Thr)
c.8131T>A (p.Ser2711Thr)
5g.13770826T>ACA359204498DNAH5c.9528A>T (p.Lys3176Asn)
c.9483A>T (p.Lys3161Asn)
n.240A>T
c.9636A>T (p.Lys3212Asn)
c.8541A>T (p.Lys2847Asn)
c.4725A>T (p.Lys1575Asn)
c.4278A>T (p.Lys1426Asn)
c.3615A>T (p.Lys1205Asn)
c.8130A>T (p.Lys2710Asn)
5g.13770826T>CCA443535566DNAH5c.9528A>G (p.Lys3176=)
c.9483A>G (p.Lys3161=)
n.240A>G
c.9636A>G (p.Lys3212=)
c.8541A>G (p.Lys2847=)
c.4725A>G (p.Lys1575=)
c.4278A>G (p.Lys1426=)
c.3615A>G (p.Lys1205=)
c.8130A>G (p.Lys2710=)
5g.13770826T>GCA359204501DNAH5c.9528A>C (p.Lys3176Asn)
c.9483A>C (p.Lys3161Asn)
n.240A>C
c.9636A>C (p.Lys3212Asn)
c.8541A>C (p.Lys2847Asn)
c.4725A>C (p.Lys1575Asn)
c.4278A>C (p.Lys1426Asn)
c.3615A>C (p.Lys1205Asn)
c.8130A>C (p.Lys2710Asn)
5g.13770827T>ACA359204502DNAH5c.9527A>T (p.Lys3176Ile)
c.9482A>T (p.Lys3161Ile)
n.239A>T
c.9635A>T (p.Lys3212Ile)
c.8540A>T (p.Lys2847Ile)
c.4724A>T (p.Lys1575Ile)
c.4277A>T (p.Lys1426Ile)
c.3614A>T (p.Lys1205Ile)
c.8129A>T (p.Lys2710Ile)
5g.13770827T>CCA359204505DNAH5c.9527A>G (p.Lys3176Arg)
c.9482A>G (p.Lys3161Arg)
n.239A>G
c.9635A>G (p.Lys3212Arg)
c.8540A>G (p.Lys2847Arg)
c.4724A>G (p.Lys1575Arg)
c.4277A>G (p.Lys1426Arg)
c.3614A>G (p.Lys1205Arg)
c.8129A>G (p.Lys2710Arg)
5g.13770827T>GCA359204507DNAH5c.9527A>C (p.Lys3176Thr)
c.9482A>C (p.Lys3161Thr)
n.239A>C
c.9635A>C (p.Lys3212Thr)
c.8540A>C (p.Lys2847Thr)
c.4724A>C (p.Lys1575Thr)
c.4277A>C (p.Lys1426Thr)
c.3614A>C (p.Lys1205Thr)
c.8129A>C (p.Lys2710Thr)
5g.13770828T>ACA359204510DNAH5c.9526A>T (p.Lys3176Ter)
c.9481A>T (p.Lys3161Ter)
n.238A>T
c.9634A>T (p.Lys3212Ter)
c.8539A>T (p.Lys2847Ter)
c.4723A>T (p.Lys1575Ter)
c.4276A>T (p.Lys1426Ter)
c.3613A>T (p.Lys1205Ter)
c.8128A>T (p.Lys2710Ter)
5g.13770828T>CCA359204512DNAH5c.9526A>G (p.Lys3176Glu)
c.9481A>G (p.Lys3161Glu)
n.238A>G
c.9634A>G (p.Lys3212Glu)
c.8539A>G (p.Lys2847Glu)
c.4723A>G (p.Lys1575Glu)
c.4276A>G (p.Lys1426Glu)
c.3613A>G (p.Lys1205Glu)
c.8128A>G (p.Lys2710Glu)
5g.13770828T>GCA359204515DNAH5c.9526A>C (p.Lys3176Gln)
c.9481A>C (p.Lys3161Gln)
n.238A>C
c.9634A>C (p.Lys3212Gln)
c.8539A>C (p.Lys2847Gln)
c.4723A>C (p.Lys1575Gln)
c.4276A>C (p.Lys1426Gln)
c.3613A>C (p.Lys1205Gln)
c.8128A>C (p.Lys2710Gln)
5g.13770829G>ACA113932908DNAH5c.9525C>T (p.Pro3175=)
c.9480C>T (p.Pro3160=)
n.237C>T
c.9633C>T (p.Pro3211=)
c.8538C>T (p.Pro2846=)
c.4722C>T (p.Pro1574=)
c.4275C>T (p.Pro1425=)
c.3612C>T (p.Pro1204=)
c.8127C>T (p.Pro2709=)
 dbSNP
5g.13770829G>CCA443535570DNAH5c.9525C>G (p.Pro3175=)
c.9480C>G (p.Pro3160=)
n.237C>G
c.9633C>G (p.Pro3211=)
c.8538C>G (p.Pro2846=)
c.4722C>G (p.Pro1574=)
c.4275C>G (p.Pro1425=)
c.3612C>G (p.Pro1204=)
c.8127C>G (p.Pro2709=)
5g.13770829G=CA1528431201DNAH5c.9525C= (p.Pro3175=)
c.9480C= (p.Pro3160=)
n.237C=
c.9633C= (p.Pro3211=)
c.8538C= (p.Pro2846=)
c.4722C= (p.Pro1574=)
c.4275C= (p.Pro1425=)
c.3612C= (p.Pro1204=)
c.8127C= (p.Pro2709=)
5g.13770829G>TCA443535571DNAH5c.9525C>A (p.Pro3175=)
c.9480C>A (p.Pro3160=)
n.237C>A
c.9633C>A (p.Pro3211=)
c.8538C>A (p.Pro2846=)
c.4722C>A (p.Pro1574=)
c.4275C>A (p.Pro1425=)
c.3612C>A (p.Pro1204=)
c.8127C>A (p.Pro2709=)
5g.13770830_13770831dupCA2765348512DNAH5c.9524_9525dup (p.Lys3176ProfsTer29)
c.9479_9480dup (p.Lys3161ProfsTer29)
n.236_237dup
c.9632_9633dup (p.Lys3212ProfsTer29)
c.8537_8538dup (p.Lys2847ProfsTer29)
c.9632_9633dup (p.Lys3212ProfsTer?)
c.4721_4722dup (p.Lys1575ProfsTer29)
c.4274_4275dup (p.Lys1426ProfsTer29)
c.3611_3612dup (p.Lys1205ProfsTer29)
c.8126_8127dup (p.Lys2710ProfsTer29)
5g.13770830G>ACA359204518DNAH5c.9524C>T (p.Pro3175Leu)
c.9479C>T (p.Pro3160Leu)
n.236C>T
c.9632C>T (p.Pro3211Leu)
c.8537C>T (p.Pro2846Leu)
c.4721C>T (p.Pro1574Leu)
c.4274C>T (p.Pro1425Leu)
c.3611C>T (p.Pro1204Leu)
c.8126C>T (p.Pro2709Leu)
5g.13770830G>CCA359204521DNAH5c.9524C>G (p.Pro3175Arg)
c.9479C>G (p.Pro3160Arg)
n.236C>G
c.9632C>G (p.Pro3211Arg)
c.8537C>G (p.Pro2846Arg)
c.4721C>G (p.Pro1574Arg)
c.4274C>G (p.Pro1425Arg)
c.3611C>G (p.Pro1204Arg)
c.8126C>G (p.Pro2709Arg)
5g.13770830G>TCA359204523DNAH5c.9524C>A (p.Pro3175His)
c.9479C>A (p.Pro3160His)
n.236C>A
c.9632C>A (p.Pro3211His)
c.8537C>A (p.Pro2846His)
c.4721C>A (p.Pro1574His)
c.4274C>A (p.Pro1425His)
c.3611C>A (p.Pro1204His)
c.8126C>A (p.Pro2709His)
5g.13770831G>ACA359204531DNAH5c.9523C>T (p.Pro3175Ser)
c.9478C>T (p.Pro3160Ser)
n.235C>T
c.9631C>T (p.Pro3211Ser)
c.8536C>T (p.Pro2846Ser)
c.4720C>T (p.Pro1574Ser)
c.4273C>T (p.Pro1425Ser)
c.3610C>T (p.Pro1204Ser)
c.8125C>T (p.Pro2709Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770831G>CCA359204525DNAH5c.9523C>G (p.Pro3175Ala)
c.9478C>G (p.Pro3160Ala)
n.235C>G
c.9631C>G (p.Pro3211Ala)
c.8536C>G (p.Pro2846Ala)
c.4720C>G (p.Pro1574Ala)
c.4273C>G (p.Pro1425Ala)
c.3610C>G (p.Pro1204Ala)
c.8125C>G (p.Pro2709Ala)
5g.13770831G=CA1528431202DNAH5c.9523C= (p.Pro3175=)
c.9478C= (p.Pro3160=)
n.235C=
c.9631C= (p.Pro3211=)
c.8536C= (p.Pro2846=)
c.4720C= (p.Pro1574=)
c.4273C= (p.Pro1425=)
c.3610C= (p.Pro1204=)
c.8125C= (p.Pro2709=)
5g.13770831G>TCA359204528DNAH5c.9523C>A (p.Pro3175Thr)
c.9478C>A (p.Pro3160Thr)
n.235C>A
c.9631C>A (p.Pro3211Thr)
c.8536C>A (p.Pro2846Thr)
c.4720C>A (p.Pro1574Thr)
c.4273C>A (p.Pro1425Thr)
c.3610C>A (p.Pro1204Thr)
c.8125C>A (p.Pro2709Thr)
 gnomAD v4
5g.13770832C>ACA443535573DNAH5c.9522G>T (p.Thr3174=)
c.9477G>T (p.Thr3159=)
n.234G>T
c.9630G>T (p.Thr3210=)
c.8535G>T (p.Thr2845=)
c.4719G>T (p.Thr1573=)
c.4272G>T (p.Thr1424=)
c.3609G>T (p.Thr1203=)
c.8124G>T (p.Thr2708=)
 ClinVar dbSNP gnomAD v4
5g.13770832C=CA1528431203DNAH5c.9522G= (p.Thr3174=)
c.9477G= (p.Thr3159=)
n.234G=
c.9630G= (p.Thr3210=)
c.8535G= (p.Thr2845=)
c.4719G= (p.Thr1573=)
c.4272G= (p.Thr1424=)
c.3609G= (p.Thr1203=)
c.8124G= (p.Thr2708=)
5g.13770832C>GCA443535574DNAH5c.9522G>C (p.Thr3174=)
c.9477G>C (p.Thr3159=)
n.234G>C
c.9630G>C (p.Thr3210=)
c.8535G>C (p.Thr2845=)
c.4719G>C (p.Thr1573=)
c.4272G>C (p.Thr1424=)
c.3609G>C (p.Thr1203=)
c.8124G>C (p.Thr2708=)
5g.13770832C>TCA3202526DNAH5c.9522G>A (p.Thr3174=)
c.9477G>A (p.Thr3159=)
n.234G>A
c.9630G>A (p.Thr3210=)
c.8535G>A (p.Thr2845=)
c.4719G>A (p.Thr1573=)
c.4272G>A (p.Thr1424=)
c.3609G>A (p.Thr1203=)
c.8124G>A (p.Thr2708=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770833G>ACA3202527DNAH5c.9521C>T (p.Thr3174Met)
c.9476C>T (p.Thr3159Met)
n.233C>T
c.9629C>T (p.Thr3210Met)
c.8534C>T (p.Thr2845Met)
c.4718C>T (p.Thr1573Met)
c.4271C>T (p.Thr1424Met)
c.3608C>T (p.Thr1203Met)
c.8123C>T (p.Thr2708Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770833G>CCA359204539DNAH5c.9521C>G (p.Thr3174Arg)
c.9476C>G (p.Thr3159Arg)
n.233C>G
c.9629C>G (p.Thr3210Arg)
c.8534C>G (p.Thr2845Arg)
c.4718C>G (p.Thr1573Arg)
c.4271C>G (p.Thr1424Arg)
c.3608C>G (p.Thr1203Arg)
c.8123C>G (p.Thr2708Arg)
5g.13770833G=CA1528431204DNAH5c.9521C= (p.Thr3174=)
c.9476C= (p.Thr3159=)
n.233C=
c.9629C= (p.Thr3210=)
c.8534C= (p.Thr2845=)
c.4718C= (p.Thr1573=)
c.4271C= (p.Thr1424=)
c.3608C= (p.Thr1203=)
c.8123C= (p.Thr2708=)
5g.13770833G>TCA359204541DNAH5c.9521C>A (p.Thr3174Lys)
c.9476C>A (p.Thr3159Lys)
n.233C>A
c.9629C>A (p.Thr3210Lys)
c.8534C>A (p.Thr2845Lys)
c.4718C>A (p.Thr1573Lys)
c.4271C>A (p.Thr1424Lys)
c.3608C>A (p.Thr1203Lys)
c.8123C>A (p.Thr2708Lys)
5g.13770834T>ACA359204543DNAH5c.9520A>T (p.Thr3174Ser)
c.9475A>T (p.Thr3159Ser)
n.232A>T
c.9628A>T (p.Thr3210Ser)
c.8533A>T (p.Thr2845Ser)
c.4717A>T (p.Thr1573Ser)
c.4270A>T (p.Thr1424Ser)
c.3607A>T (p.Thr1203Ser)
c.8122A>T (p.Thr2708Ser)
5g.13770834T>CCA359204544DNAH5c.9520A>G (p.Thr3174Ala)
c.9475A>G (p.Thr3159Ala)
n.232A>G
c.9628A>G (p.Thr3210Ala)
c.8533A>G (p.Thr2845Ala)
c.4717A>G (p.Thr1573Ala)
c.4270A>G (p.Thr1424Ala)
c.3607A>G (p.Thr1203Ala)
c.8122A>G (p.Thr2708Ala)
5g.13770834T>GCA359204546DNAH5c.9520A>C (p.Thr3174Pro)
c.9475A>C (p.Thr3159Pro)
n.232A>C
c.9628A>C (p.Thr3210Pro)
c.8533A>C (p.Thr2845Pro)
c.4717A>C (p.Thr1573Pro)
c.4270A>C (p.Thr1424Pro)
c.3607A>C (p.Thr1203Pro)
c.8122A>C (p.Thr2708Pro)
5g.13770835delCA2673268302DNAH5c.9519del (p.Thr3174ArgfsTer?)
c.9474del (p.Thr3159ArgfsTer?)
n.231del
c.9627del (p.Thr3210ArgfsTer?)
c.8532del (p.Thr2845ArgfsTer?)
c.4716del (p.Thr1573ArgfsTer?)
c.4269del (p.Thr1424ArgfsTer?)
c.3606del (p.Thr1203ArgfsTer?)
c.8121del (p.Thr2708ArgfsTer?)
 gnomAD v4
5g.13770835C>ACA443535575DNAH5c.9519G>T (p.Val3173=)
c.9474G>T (p.Val3158=)
n.231G>T
c.9627G>T (p.Val3209=)
c.8532G>T (p.Val2844=)
c.4716G>T (p.Val1572=)
c.4269G>T (p.Val1423=)
c.3606G>T (p.Val1202=)
c.8121G>T (p.Val2707=)
5g.13770835C>GCA443535576DNAH5c.9519G>C (p.Val3173=)
c.9474G>C (p.Val3158=)
n.231G>C
c.9627G>C (p.Val3209=)
c.8532G>C (p.Val2844=)
c.4716G>C (p.Val1572=)
c.4269G>C (p.Val1423=)
c.3606G>C (p.Val1202=)
c.8121G>C (p.Val2707=)
5g.13770835C>TCA443535577DNAH5c.9519G>A (p.Val3173=)
c.9474G>A (p.Val3158=)
n.231G>A
c.9627G>A (p.Val3209=)
c.8532G>A (p.Val2844=)
c.4716G>A (p.Val1572=)
c.4269G>A (p.Val1423=)
c.3606G>A (p.Val1202=)
c.8121G>A (p.Val2707=)
 gnomAD v4
5g.13770836A>CCA359204549DNAH5c.9518T>G (p.Val3173Gly)
c.9473T>G (p.Val3158Gly)
n.230T>G
c.9626T>G (p.Val3209Gly)
c.8531T>G (p.Val2844Gly)
c.4715T>G (p.Val1572Gly)
c.4268T>G (p.Val1423Gly)
c.3605T>G (p.Val1202Gly)
c.8120T>G (p.Val2707Gly)
5g.13770836A>GCA359204551DNAH5c.9518T>C (p.Val3173Ala)
c.9473T>C (p.Val3158Ala)
n.230T>C
c.9626T>C (p.Val3209Ala)
c.8531T>C (p.Val2844Ala)
c.4715T>C (p.Val1572Ala)
c.4268T>C (p.Val1423Ala)
c.3605T>C (p.Val1202Ala)
c.8120T>C (p.Val2707Ala)
5g.13770836A>TCA359204554DNAH5c.9518T>A (p.Val3173Glu)
c.9473T>A (p.Val3158Glu)
n.230T>A
c.9626T>A (p.Val3209Glu)
c.8531T>A (p.Val2844Glu)
c.4715T>A (p.Val1572Glu)
c.4268T>A (p.Val1423Glu)
c.3605T>A (p.Val1202Glu)
c.8120T>A (p.Val2707Glu)
 gnomAD v4
5g.13770837C>ACA113932931DNAH5c.9517G>T (p.Val3173Leu)
c.9472G>T (p.Val3158Leu)
n.229G>T
c.9625G>T (p.Val3209Leu)
c.8530G>T (p.Val2844Leu)
c.4714G>T (p.Val1572Leu)
c.4267G>T (p.Val1423Leu)
c.3604G>T (p.Val1202Leu)
c.8119G>T (p.Val2707Leu)
 dbSNP gnomAD v4
5g.13770837C=CA1528431205DNAH5c.9517G= (p.Val3173=)
c.9472G= (p.Val3158=)
n.229G=
c.9625G= (p.Val3209=)
c.8530G= (p.Val2844=)
c.4714G= (p.Val1572=)
c.4267G= (p.Val1423=)
c.3604G= (p.Val1202=)
c.8119G= (p.Val2707=)
5g.13770837C>GCA359204560DNAH5c.9517G>C (p.Val3173Leu)
c.9472G>C (p.Val3158Leu)
n.229G>C
c.9625G>C (p.Val3209Leu)
c.8530G>C (p.Val2844Leu)
c.4714G>C (p.Val1572Leu)
c.4267G>C (p.Val1423Leu)
c.3604G>C (p.Val1202Leu)
c.8119G>C (p.Val2707Leu)
5g.13770837C>TCA3202528DNAH5c.9517G>A (p.Val3173Met)
c.9472G>A (p.Val3158Met)
n.229G>A
c.9625G>A (p.Val3209Met)
c.8530G>A (p.Val2844Met)
c.4714G>A (p.Val1572Met)
c.4267G>A (p.Val1423Met)
c.3604G>A (p.Val1202Met)
c.8119G>A (p.Val2707Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770838G>ACA443535579DNAH5c.9516C>T (p.His3172=)
c.9471C>T (p.His3157=)
n.228C>T
c.9624C>T (p.His3208=)
c.8529C>T (p.His2843=)
c.4713C>T (p.His1571=)
c.4266C>T (p.His1422=)
c.3603C>T (p.His1201=)
c.8118C>T (p.His2706=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770838G>CCA359204562DNAH5c.9516C>G (p.His3172Gln)
c.9471C>G (p.His3157Gln)
n.228C>G
c.9624C>G (p.His3208Gln)
c.8529C>G (p.His2843Gln)
c.4713C>G (p.His1571Gln)
c.4266C>G (p.His1422Gln)
c.3603C>G (p.His1201Gln)
c.8118C>G (p.His2706Gln)
5g.13770838G=CA1528431206DNAH5c.9516C= (p.His3172=)
c.9471C= (p.His3157=)
n.228C=
c.9624C= (p.His3208=)
c.8529C= (p.His2843=)
c.4713C= (p.His1571=)
c.4266C= (p.His1422=)
c.3603C= (p.His1201=)
c.8118C= (p.His2706=)
5g.13770838G>TCA359204565DNAH5c.9516C>A (p.His3172Gln)
c.9471C>A (p.His3157Gln)
n.228C>A
c.9624C>A (p.His3208Gln)
c.8529C>A (p.His2843Gln)
c.4713C>A (p.His1571Gln)
c.4266C>A (p.His1422Gln)
c.3603C>A (p.His1201Gln)
c.8118C>A (p.His2706Gln)
5g.13770839T>ACA359204568DNAH5c.9515A>T (p.His3172Leu)
c.9470A>T (p.His3157Leu)
n.227A>T
c.9623A>T (p.His3208Leu)
c.8528A>T (p.His2843Leu)
c.4712A>T (p.His1571Leu)
c.4265A>T (p.His1422Leu)
c.3602A>T (p.His1201Leu)
c.8117A>T (p.His2706Leu)
5g.13770839T>CCA359204570DNAH5c.9515A>G (p.His3172Arg)
c.9470A>G (p.His3157Arg)
n.227A>G
c.9623A>G (p.His3208Arg)
c.8528A>G (p.His2843Arg)
c.4712A>G (p.His1571Arg)
c.4265A>G (p.His1422Arg)
c.3602A>G (p.His1201Arg)
c.8117A>G (p.His2706Arg)
5g.13770839T>GCA3202529DNAH5c.9515A>C (p.His3172Pro)
c.9470A>C (p.His3157Pro)
n.227A>C
c.9623A>C (p.His3208Pro)
c.8528A>C (p.His2843Pro)
c.4712A>C (p.His1571Pro)
c.4265A>C (p.His1422Pro)
c.3602A>C (p.His1201Pro)
c.8117A>C (p.His2706Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770839T=CA1528431207DNAH5c.9515A= (p.His3172=)
c.9470A= (p.His3157=)
n.227A=
c.9623A= (p.His3208=)
c.8528A= (p.His2843=)
c.4712A= (p.His1571=)
c.4265A= (p.His1422=)
c.3602A= (p.His1201=)
c.8117A= (p.His2706=)
5g.13770840G>ACA359204578DNAH5c.9514C>T (p.His3172Tyr)
c.9469C>T (p.His3157Tyr)
n.226C>T
c.9622C>T (p.His3208Tyr)
c.8527C>T (p.His2843Tyr)
c.4711C>T (p.His1571Tyr)
c.4264C>T (p.His1422Tyr)
c.3601C>T (p.His1201Tyr)
c.8116C>T (p.His2706Tyr)
5g.13770840G>CCA3202530DNAH5c.9514C>G (p.His3172Asp)
c.9469C>G (p.His3157Asp)
n.226C>G
c.9622C>G (p.His3208Asp)
c.8527C>G (p.His2843Asp)
c.4711C>G (p.His1571Asp)
c.4264C>G (p.His1422Asp)
c.3601C>G (p.His1201Asp)
c.8116C>G (p.His2706Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770840G=CA1528431208DNAH5c.9514C= (p.His3172=)
c.9469C= (p.His3157=)
n.226C=
c.9622C= (p.His3208=)
c.8527C= (p.His2843=)
c.4711C= (p.His1571=)
c.4264C= (p.His1422=)
c.3601C= (p.His1201=)
c.8116C= (p.His2706=)
5g.13770840G>TCA359204574DNAH5c.9514C>A (p.His3172Asn)
c.9469C>A (p.His3157Asn)
n.226C>A
c.9622C>A (p.His3208Asn)
c.8527C>A (p.His2843Asn)
c.4711C>A (p.His1571Asn)
c.4264C>A (p.His1422Asn)
c.3601C>A (p.His1201Asn)
c.8116C>A (p.His2706Asn)
5g.13770842dupCA557876482DNAH5c.9514dup (p.His3172ProfsTer15)
c.9469dup (p.His3157ProfsTer15)
n.226dup
c.9622dup (p.His3208ProfsTer15)
c.8527dup (p.His2843ProfsTer15)
c.4711dup (p.His1571ProfsTer15)
c.4264dup (p.His1422ProfsTer15)
c.3601dup (p.His1201ProfsTer15)
c.8116dup (p.His2706ProfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13770841G>ACA443535581DNAH5c.9513C>T (p.Thr3171=)
c.9468C>T (p.Thr3156=)
n.225C>T
c.9621C>T (p.Thr3207=)
c.8526C>T (p.Thr2842=)
c.4710C>T (p.Thr1570=)
c.4263C>T (p.Thr1421=)
c.3600C>T (p.Thr1200=)
c.8115C>T (p.Thr2705=)
5g.13770841G>CCA443535583DNAH5c.9513C>G (p.Thr3171=)
c.9468C>G (p.Thr3156=)
n.225C>G
c.9621C>G (p.Thr3207=)
c.8526C>G (p.Thr2842=)
c.4710C>G (p.Thr1570=)
c.4263C>G (p.Thr1421=)
c.3600C>G (p.Thr1200=)
c.8115C>G (p.Thr2705=)
5g.13770841G>TCA443535582DNAH5c.9513C>A (p.Thr3171=)
c.9468C>A (p.Thr3156=)
n.225C>A
c.9621C>A (p.Thr3207=)
c.8526C>A (p.Thr2842=)
c.4710C>A (p.Thr1570=)
c.4263C>A (p.Thr1421=)
c.3600C>A (p.Thr1200=)
c.8115C>A (p.Thr2705=)
5g.13770842G>ACA359204580DNAH5c.9512C>T (p.Thr3171Ile)
c.9467C>T (p.Thr3156Ile)
n.224C>T
c.9620C>T (p.Thr3207Ile)
c.8525C>T (p.Thr2842Ile)
c.4709C>T (p.Thr1570Ile)
c.4262C>T (p.Thr1421Ile)
c.3599C>T (p.Thr1200Ile)
c.8114C>T (p.Thr2705Ile)
 gnomAD v4
5g.13770842G>CCA359204582DNAH5c.9512C>G (p.Thr3171Ser)
c.9467C>G (p.Thr3156Ser)
n.224C>G
c.9620C>G (p.Thr3207Ser)
c.8525C>G (p.Thr2842Ser)
c.4709C>G (p.Thr1570Ser)
c.4262C>G (p.Thr1421Ser)
c.3599C>G (p.Thr1200Ser)
c.8114C>G (p.Thr2705Ser)
5g.13770842G>TCA359204583DNAH5c.9512C>A (p.Thr3171Asn)
c.9467C>A (p.Thr3156Asn)
n.224C>A
c.9620C>A (p.Thr3207Asn)
c.8525C>A (p.Thr2842Asn)
c.4709C>A (p.Thr1570Asn)
c.4262C>A (p.Thr1421Asn)
c.3599C>A (p.Thr1200Asn)
c.8114C>A (p.Thr2705Asn)
5g.13770843T>ACA3202531DNAH5c.9511A>T (p.Thr3171Ser)
c.9466A>T (p.Thr3156Ser)
n.223A>T
c.9619A>T (p.Thr3207Ser)
c.8524A>T (p.Thr2842Ser)
c.4708A>T (p.Thr1570Ser)
c.4261A>T (p.Thr1421Ser)
c.3598A>T (p.Thr1200Ser)
c.8113A>T (p.Thr2705Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770843T>CCA3202532DNAH5c.9511A>G (p.Thr3171Ala)
c.9466A>G (p.Thr3156Ala)
n.223A>G
c.9619A>G (p.Thr3207Ala)
c.8524A>G (p.Thr2842Ala)
c.4708A>G (p.Thr1570Ala)
c.4261A>G (p.Thr1421Ala)
c.3598A>G (p.Thr1200Ala)
c.8113A>G (p.Thr2705Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770843T>GCA359204589DNAH5c.9511A>C (p.Thr3171Pro)
c.9466A>C (p.Thr3156Pro)
n.223A>C
c.9619A>C (p.Thr3207Pro)
c.8524A>C (p.Thr2842Pro)
c.4708A>C (p.Thr1570Pro)
c.4261A>C (p.Thr1421Pro)
c.3598A>C (p.Thr1200Pro)
c.8113A>C (p.Thr2705Pro)
 ClinVar dbSNP
5g.13770843T=CA1528431209DNAH5c.9511A= (p.Thr3171=)
c.9466A= (p.Thr3156=)
n.223A=
c.9619A= (p.Thr3207=)
c.8524A= (p.Thr2842=)
c.4708A= (p.Thr1570=)
c.4261A= (p.Thr1421=)
c.3598A= (p.Thr1200=)
c.8113A= (p.Thr2705=)
5g.13770844A>CCA443535584DNAH5c.9510T>G (p.Ser3170=)
c.9465T>G (p.Ser3155=)
n.222T>G
c.9618T>G (p.Ser3206=)
c.8523T>G (p.Ser2841=)
c.4707T>G (p.Ser1569=)
c.4260T>G (p.Ser1420=)
c.3597T>G (p.Ser1199=)
c.8112T>G (p.Ser2704=)
5g.13770844A>GCA443535585DNAH5c.9510T>C (p.Ser3170=)
c.9465T>C (p.Ser3155=)
n.222T>C
c.9618T>C (p.Ser3206=)
c.8523T>C (p.Ser2841=)
c.4707T>C (p.Ser1569=)
c.4260T>C (p.Ser1420=)
c.3597T>C (p.Ser1199=)
c.8112T>C (p.Ser2704=)
5g.13770844A>TCA443535586DNAH5c.9510T>A (p.Ser3170=)
c.9465T>A (p.Ser3155=)
n.222T>A
c.9618T>A (p.Ser3206=)
c.8523T>A (p.Ser2841=)
c.4707T>A (p.Ser1569=)
c.4260T>A (p.Ser1420=)
c.3597T>A (p.Ser1199=)
c.8112T>A (p.Ser2704=)
5g.13770845G>ACA359204592DNAH5c.9509C>T (p.Ser3170Phe)
c.9464C>T (p.Ser3155Phe)
n.221C>T
c.9617C>T (p.Ser3206Phe)
c.8522C>T (p.Ser2841Phe)
c.4706C>T (p.Ser1569Phe)
c.4259C>T (p.Ser1420Phe)
c.3596C>T (p.Ser1199Phe)
c.8111C>T (p.Ser2704Phe)
5g.13770845G>CCA359204596DNAH5c.9509C>G (p.Ser3170Cys)
c.9464C>G (p.Ser3155Cys)
n.221C>G
c.9617C>G (p.Ser3206Cys)
c.8522C>G (p.Ser2841Cys)
c.4706C>G (p.Ser1569Cys)
c.4259C>G (p.Ser1420Cys)
c.3596C>G (p.Ser1199Cys)
c.8111C>G (p.Ser2704Cys)
5g.13770845G>TCA359204594DNAH5c.9509C>A (p.Ser3170Tyr)
c.9464C>A (p.Ser3155Tyr)
n.221C>A
c.9617C>A (p.Ser3206Tyr)
c.8522C>A (p.Ser2841Tyr)
c.4706C>A (p.Ser1569Tyr)
c.4259C>A (p.Ser1420Tyr)
c.3596C>A (p.Ser1199Tyr)
c.8111C>A (p.Ser2704Tyr)
5g.13770846A>CCA359204597DNAH5c.9508T>G (p.Ser3170Ala)
c.9463T>G (p.Ser3155Ala)
n.220T>G
c.9616T>G (p.Ser3206Ala)
c.8521T>G (p.Ser2841Ala)
c.4705T>G (p.Ser1569Ala)
c.4258T>G (p.Ser1420Ala)
c.3595T>G (p.Ser1199Ala)
c.8110T>G (p.Ser2704Ala)
5g.13770846A>GCA359204600DNAH5c.9508T>C (p.Ser3170Pro)
c.9463T>C (p.Ser3155Pro)
n.220T>C
c.9616T>C (p.Ser3206Pro)
c.8521T>C (p.Ser2841Pro)
c.4705T>C (p.Ser1569Pro)
c.4258T>C (p.Ser1420Pro)
c.3595T>C (p.Ser1199Pro)
c.8110T>C (p.Ser2704Pro)
5g.13770846A>TCA359204602DNAH5c.9508T>A (p.Ser3170Thr)
c.9463T>A (p.Ser3155Thr)
n.220T>A
c.9616T>A (p.Ser3206Thr)
c.8521T>A (p.Ser2841Thr)
c.4705T>A (p.Ser1569Thr)
c.4258T>A (p.Ser1420Thr)
c.3595T>A (p.Ser1199Thr)
c.8110T>A (p.Ser2704Thr)
5g.13770847A>CCA443535589DNAH5c.9507T>G (p.Arg3169=)
c.9462T>G (p.Arg3154=)
n.219T>G
c.9615T>G (p.Arg3205=)
c.8520T>G (p.Arg2840=)
c.4704T>G (p.Arg1568=)
c.4257T>G (p.Arg1419=)
c.3594T>G (p.Arg1198=)
c.8109T>G (p.Arg2703=)
5g.13770847A>GCA443535590DNAH5c.9507T>C (p.Arg3169=)
c.9462T>C (p.Arg3154=)
n.219T>C
c.9615T>C (p.Arg3205=)
c.8520T>C (p.Arg2840=)
c.4704T>C (p.Arg1568=)
c.4257T>C (p.Arg1419=)
c.3594T>C (p.Arg1198=)
c.8109T>C (p.Arg2703=)
5g.13770847A>TCA443535591DNAH5c.9507T>A (p.Arg3169=)
c.9462T>A (p.Arg3154=)
n.219T>A
c.9615T>A (p.Arg3205=)
c.8520T>A (p.Arg2840=)
c.4704T>A (p.Arg1568=)
c.4257T>A (p.Arg1419=)
c.3594T>A (p.Arg1198=)
c.8109T>A (p.Arg2703=)
5g.13770848C>ACA359204604DNAH5c.9506G>T (p.Arg3169Leu)
c.9461G>T (p.Arg3154Leu)
n.218G>T
c.9614G>T (p.Arg3205Leu)
c.8519G>T (p.Arg2840Leu)
c.4703G>T (p.Arg1568Leu)
c.4256G>T (p.Arg1419Leu)
c.3593G>T (p.Arg1198Leu)
c.8108G>T (p.Arg2703Leu)
5g.13770848C=CA1528431210DNAH5c.9506G= (p.Arg3169=)
c.9461G= (p.Arg3154=)
n.218G=
c.9614G= (p.Arg3205=)
c.8519G= (p.Arg2840=)
c.4703G= (p.Arg1568=)
c.4256G= (p.Arg1419=)
c.3593G= (p.Arg1198=)
c.8108G= (p.Arg2703=)
5g.13770848C>GCA359204606DNAH5c.9506G>C (p.Arg3169Pro)
c.9461G>C (p.Arg3154Pro)
n.218G>C
c.9614G>C (p.Arg3205Pro)
c.8519G>C (p.Arg2840Pro)
c.4703G>C (p.Arg1568Pro)
c.4256G>C (p.Arg1419Pro)
c.3593G>C (p.Arg1198Pro)
c.8108G>C (p.Arg2703Pro)
5g.13770848C>TCA359204608DNAH5c.9506G>A (p.Arg3169His)
c.9461G>A (p.Arg3154His)
n.218G>A
c.9614G>A (p.Arg3205His)
c.8519G>A (p.Arg2840His)
c.4703G>A (p.Arg1568His)
c.4256G>A (p.Arg1419His)
c.3593G>A (p.Arg1198His)
c.8108G>A (p.Arg2703His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770849G>ACA3202533DNAH5c.9505C>T (p.Arg3169Cys)
c.9460C>T (p.Arg3154Cys)
n.217C>T
c.9613C>T (p.Arg3205Cys)
c.8518C>T (p.Arg2840Cys)
c.4702C>T (p.Arg1568Cys)
c.4255C>T (p.Arg1419Cys)
c.3592C>T (p.Arg1198Cys)
c.8107C>T (p.Arg2703Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770849G>CCA359204611DNAH5c.9505C>G (p.Arg3169Gly)
c.9460C>G (p.Arg3154Gly)
n.217C>G
c.9613C>G (p.Arg3205Gly)
c.8518C>G (p.Arg2840Gly)
c.4702C>G (p.Arg1568Gly)
c.4255C>G (p.Arg1419Gly)
c.3592C>G (p.Arg1198Gly)
c.8107C>G (p.Arg2703Gly)
5g.13770849G=CA1528431211DNAH5c.9505C= (p.Arg3169=)
c.9460C= (p.Arg3154=)
n.217C=
c.9613C= (p.Arg3205=)
c.8518C= (p.Arg2840=)
c.4702C= (p.Arg1568=)
c.4255C= (p.Arg1419=)
c.3592C= (p.Arg1198=)
c.8107C= (p.Arg2703=)
5g.13770849G>TCA3202534DNAH5c.9505C>A (p.Arg3169Ser)
c.9460C>A (p.Arg3154Ser)
n.217C>A
c.9613C>A (p.Arg3205Ser)
c.8518C>A (p.Arg2840Ser)
c.4702C>A (p.Arg1568Ser)
c.4255C>A (p.Arg1419Ser)
c.3592C>A (p.Arg1198Ser)
c.8107C>A (p.Arg2703Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770850T>ACA443535597DNAH5c.9504A>T (p.Arg3168=)
c.9459A>T (p.Arg3153=)
n.216A>T
c.9612A>T (p.Arg3204=)
c.8517A>T (p.Arg2839=)
c.4701A>T (p.Arg1567=)
c.4254A>T (p.Arg1418=)
c.3591A>T (p.Arg1197=)
c.8106A>T (p.Arg2702=)
5g.13770850T>CCA443535598DNAH5c.9504A>G (p.Arg3168=)
c.9459A>G (p.Arg3153=)
n.216A>G
c.9612A>G (p.Arg3204=)
c.8517A>G (p.Arg2839=)
c.4701A>G (p.Arg1567=)
c.4254A>G (p.Arg1418=)
c.3591A>G (p.Arg1197=)
c.8106A>G (p.Arg2702=)
 gnomAD v4
5g.13770850T>GCA443535599DNAH5c.9504A>C (p.Arg3168=)
c.9459A>C (p.Arg3153=)
n.216A>C
c.9612A>C (p.Arg3204=)
c.8517A>C (p.Arg2839=)
c.4701A>C (p.Arg1567=)
c.4254A>C (p.Arg1418=)
c.3591A>C (p.Arg1197=)
c.8106A>C (p.Arg2702=)
5g.13770851C>ACA359204615DNAH5c.9503G>T (p.Arg3168Leu)
c.9458G>T (p.Arg3153Leu)
n.215G>T
c.9611G>T (p.Arg3204Leu)
c.8516G>T (p.Arg2839Leu)
c.4700G>T (p.Arg1567Leu)
c.4253G>T (p.Arg1418Leu)
c.3590G>T (p.Arg1197Leu)
c.8105G>T (p.Arg2702Leu)
5g.13770851C=CA1528431212DNAH5c.9503G= (p.Arg3168=)
c.9458G= (p.Arg3153=)
n.215G=
c.9611G= (p.Arg3204=)
c.8516G= (p.Arg2839=)
c.4700G= (p.Arg1567=)
c.4253G= (p.Arg1418=)
c.3590G= (p.Arg1197=)
c.8105G= (p.Arg2702=)
5g.13770851C>GCA359204617DNAH5c.9503G>C (p.Arg3168Pro)
c.9458G>C (p.Arg3153Pro)
n.215G>C
c.9611G>C (p.Arg3204Pro)
c.8516G>C (p.Arg2839Pro)
c.4700G>C (p.Arg1567Pro)
c.4253G>C (p.Arg1418Pro)
c.3590G>C (p.Arg1197Pro)
c.8105G>C (p.Arg2702Pro)
 COSMIC
5g.13770851C>TCA3202535DNAH5c.9503G>A (p.Arg3168Gln)
c.9458G>A (p.Arg3153Gln)
n.215G>A
c.9611G>A (p.Arg3204Gln)
c.8516G>A (p.Arg2839Gln)
c.4700G>A (p.Arg1567Gln)
c.4253G>A (p.Arg1418Gln)
c.3590G>A (p.Arg1197Gln)
c.8105G>A (p.Arg2702Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770852G>ACA338247DNAH5c.9502C>T (p.Arg3168Ter)
c.9457C>T (p.Arg3153Ter)
n.214C>T
c.9610C>T (p.Arg3204Ter)
c.8515C>T (p.Arg2839Ter)
c.4699C>T (p.Arg1567Ter)
c.4252C>T (p.Arg1418Ter)
c.3589C>T (p.Arg1197Ter)
c.8104C>T (p.Arg2702Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770852G>CCA359204618DNAH5c.9502C>G (p.Arg3168Gly)
c.9457C>G (p.Arg3153Gly)
n.214C>G
c.9610C>G (p.Arg3204Gly)
c.8515C>G (p.Arg2839Gly)
c.4699C>G (p.Arg1567Gly)
c.4252C>G (p.Arg1418Gly)
c.3589C>G (p.Arg1197Gly)
c.8104C>G (p.Arg2702Gly)
5g.13770852G=CA1528431213DNAH5c.9502C= (p.Arg3168=)
c.9457C= (p.Arg3153=)
n.214C=
c.9610C= (p.Arg3204=)
c.8515C= (p.Arg2839=)
c.4699C= (p.Arg1567=)
c.4252C= (p.Arg1418=)
c.3589C= (p.Arg1197=)
c.8104C= (p.Arg2702=)
5g.13770852G>TCA443535601DNAH5c.9502C>A (p.Arg3168=)
c.9457C>A (p.Arg3153=)
n.214C>A
c.9610C>A (p.Arg3204=)
c.8515C>A (p.Arg2839=)
c.4699C>A (p.Arg1567=)
c.4252C>A (p.Arg1418=)
c.3589C>A (p.Arg1197=)
c.8104C>A (p.Arg2702=)
5g.13770853G>ACA443535602DNAH5c.9501C>T (p.Phe3167=)
c.9456C>T (p.Phe3152=)
n.213C>T
c.9609C>T (p.Phe3203=)
c.8514C>T (p.Phe2838=)
c.4698C>T (p.Phe1566=)
c.4251C>T (p.Phe1417=)
c.3588C>T (p.Phe1196=)
c.8103C>T (p.Phe2701=)
5g.13770853G>CCA359204619DNAH5c.9501C>G (p.Phe3167Leu)
c.9456C>G (p.Phe3152Leu)
n.213C>G
c.9609C>G (p.Phe3203Leu)
c.8514C>G (p.Phe2838Leu)
c.4698C>G (p.Phe1566Leu)
c.4251C>G (p.Phe1417Leu)
c.3588C>G (p.Phe1196Leu)
c.8103C>G (p.Phe2701Leu)
5g.13770853G>TCA359204621DNAH5c.9501C>A (p.Phe3167Leu)
c.9456C>A (p.Phe3152Leu)
n.213C>A
c.9609C>A (p.Phe3203Leu)
c.8514C>A (p.Phe2838Leu)
c.4698C>A (p.Phe1566Leu)
c.4251C>A (p.Phe1417Leu)
c.3588C>A (p.Phe1196Leu)
c.8103C>A (p.Phe2701Leu)
5g.13770854A>CCA359204622DNAH5c.9500T>G (p.Phe3167Cys)
c.9455T>G (p.Phe3152Cys)
n.212T>G
c.9608T>G (p.Phe3203Cys)
c.8513T>G (p.Phe2838Cys)
c.4697T>G (p.Phe1566Cys)
c.4250T>G (p.Phe1417Cys)
c.3587T>G (p.Phe1196Cys)
c.8102T>G (p.Phe2701Cys)
5g.13770854A>GCA359204623DNAH5c.9500T>C (p.Phe3167Ser)
c.9455T>C (p.Phe3152Ser)
n.212T>C
c.9608T>C (p.Phe3203Ser)
c.8513T>C (p.Phe2838Ser)
c.4697T>C (p.Phe1566Ser)
c.4250T>C (p.Phe1417Ser)
c.3587T>C (p.Phe1196Ser)
c.8102T>C (p.Phe2701Ser)
5g.13770854A>TCA359204625DNAH5c.9500T>A (p.Phe3167Tyr)
c.9455T>A (p.Phe3152Tyr)
n.212T>A
c.9608T>A (p.Phe3203Tyr)
c.8513T>A (p.Phe2838Tyr)
c.4697T>A (p.Phe1566Tyr)
c.4250T>A (p.Phe1417Tyr)
c.3587T>A (p.Phe1196Tyr)
c.8102T>A (p.Phe2701Tyr)
5g.13770855A>CCA359204628DNAH5c.9499T>G (p.Phe3167Val)
c.9454T>G (p.Phe3152Val)
n.211T>G
c.9607T>G (p.Phe3203Val)
c.8512T>G (p.Phe2838Val)
c.4696T>G (p.Phe1566Val)
c.4249T>G (p.Phe1417Val)
c.3586T>G (p.Phe1196Val)
c.8101T>G (p.Phe2701Val)
5g.13770855A>GCA359204629DNAH5c.9499T>C (p.Phe3167Leu)
c.9454T>C (p.Phe3152Leu)
n.211T>C
c.9607T>C (p.Phe3203Leu)
c.8512T>C (p.Phe2838Leu)
c.4696T>C (p.Phe1566Leu)
c.4249T>C (p.Phe1417Leu)
c.3586T>C (p.Phe1196Leu)
c.8101T>C (p.Phe2701Leu)
5g.13770855A>TCA359204632DNAH5c.9499T>A (p.Phe3167Ile)
c.9454T>A (p.Phe3152Ile)
n.211T>A
c.9607T>A (p.Phe3203Ile)
c.8512T>A (p.Phe2838Ile)
c.4696T>A (p.Phe1566Ile)
c.4249T>A (p.Phe1417Ile)
c.3586T>A (p.Phe1196Ile)
c.8101T>A (p.Phe2701Ile)
5g.13770856T>ACA359204634DNAH5c.9498A>T (p.Arg3166Ser)
c.9453A>T (p.Arg3151Ser)
n.210A>T
c.9606A>T (p.Arg3202Ser)
c.8511A>T (p.Arg2837Ser)
c.4695A>T (p.Arg1565Ser)
c.4248A>T (p.Arg1416Ser)
c.3585A>T (p.Arg1195Ser)
c.8100A>T (p.Arg2700Ser)
5g.13770856T>CCA443535607DNAH5c.9498A>G (p.Arg3166=)
c.9453A>G (p.Arg3151=)
n.210A>G
c.9606A>G (p.Arg3202=)
c.8511A>G (p.Arg2837=)
c.4695A>G (p.Arg1565=)
c.4248A>G (p.Arg1416=)
c.3585A>G (p.Arg1195=)
c.8100A>G (p.Arg2700=)
5g.13770856T>GCA359204636DNAH5c.9498A>C (p.Arg3166Ser)
c.9453A>C (p.Arg3151Ser)
n.210A>C
c.9606A>C (p.Arg3202Ser)
c.8511A>C (p.Arg2837Ser)
c.4695A>C (p.Arg1565Ser)
c.4248A>C (p.Arg1416Ser)
c.3585A>C (p.Arg1195Ser)
c.8100A>C (p.Arg2700Ser)
5g.13770857C>ACA359204638DNAH5c.9497G>T (p.Arg3166Ile)
c.9452G>T (p.Arg3151Ile)
n.209G>T
c.9605G>T (p.Arg3202Ile)
c.8510G>T (p.Arg2837Ile)
c.4694G>T (p.Arg1565Ile)
c.4247G>T (p.Arg1416Ile)
c.3584G>T (p.Arg1195Ile)
c.8099G>T (p.Arg2700Ile)
5g.13770857C>GCA359204640DNAH5c.9497G>C (p.Arg3166Thr)
c.9452G>C (p.Arg3151Thr)
n.209G>C
c.9605G>C (p.Arg3202Thr)
c.8510G>C (p.Arg2837Thr)
c.4694G>C (p.Arg1565Thr)
c.4247G>C (p.Arg1416Thr)
c.3584G>C (p.Arg1195Thr)
c.8099G>C (p.Arg2700Thr)
5g.13770857C>TCA359204643DNAH5c.9497G>A (p.Arg3166Lys)
c.9452G>A (p.Arg3151Lys)
n.209G>A
c.9605G>A (p.Arg3202Lys)
c.8510G>A (p.Arg2837Lys)
c.4694G>A (p.Arg1565Lys)
c.4247G>A (p.Arg1416Lys)
c.3584G>A (p.Arg1195Lys)
c.8099G>A (p.Arg2700Lys)
 gnomAD v4
5g.13770858T>ACA359204645DNAH5c.9496A>T (p.Arg3166Ter)
c.9451A>T (p.Arg3151Ter)
n.208A>T
c.9604A>T (p.Arg3202Ter)
c.8509A>T (p.Arg2837Ter)
c.4693A>T (p.Arg1565Ter)
c.4246A>T (p.Arg1416Ter)
c.3583A>T (p.Arg1195Ter)
c.8098A>T (p.Arg2700Ter)
5g.13770858T>CCA359204647DNAH5c.9496A>G (p.Arg3166Gly)
c.9451A>G (p.Arg3151Gly)
n.208A>G
c.9604A>G (p.Arg3202Gly)
c.8509A>G (p.Arg2837Gly)
c.4693A>G (p.Arg1565Gly)
c.4246A>G (p.Arg1416Gly)
c.3583A>G (p.Arg1195Gly)
c.8098A>G (p.Arg2700Gly)
 COSMIC
5g.13770858T>GCA443535608DNAH5c.9496A>C (p.Arg3166=)
c.9451A>C (p.Arg3151=)
n.208A>C
c.9604A>C (p.Arg3202=)
c.8509A>C (p.Arg2837=)
c.4693A>C (p.Arg1565=)
c.4246A>C (p.Arg1416=)
c.3583A>C (p.Arg1195=)
c.8098A>C (p.Arg2700=)
5g.13770859C>ACA359204650DNAH5c.9495G>T (p.Gln3165His)
c.9450G>T (p.Gln3150His)
n.207G>T
c.9603G>T (p.Gln3201His)
c.8508G>T (p.Gln2836His)
c.4692G>T (p.Gln1564His)
c.4245G>T (p.Gln1415His)
c.3582G>T (p.Gln1194His)
c.8097G>T (p.Gln2699His)
5g.13770859C>GCA359204652DNAH5c.9495G>C (p.Gln3165His)
c.9450G>C (p.Gln3150His)
n.207G>C
c.9603G>C (p.Gln3201His)
c.8508G>C (p.Gln2836His)
c.4692G>C (p.Gln1564His)
c.4245G>C (p.Gln1415His)
c.3582G>C (p.Gln1194His)
c.8097G>C (p.Gln2699His)
5g.13770859C>TCA443535612DNAH5c.9495G>A (p.Gln3165=)
c.9450G>A (p.Gln3150=)
n.207G>A
c.9603G>A (p.Gln3201=)
c.8508G>A (p.Gln2836=)
c.4692G>A (p.Gln1564=)
c.4245G>A (p.Gln1415=)
c.3582G>A (p.Gln1194=)
c.8097G>A (p.Gln2699=)
5g.13770860T>ACA359204656DNAH5c.9494A>T (p.Gln3165Leu)
c.9449A>T (p.Gln3150Leu)
n.206A>T
c.9602A>T (p.Gln3201Leu)
c.8507A>T (p.Gln2836Leu)
c.4691A>T (p.Gln1564Leu)
c.4244A>T (p.Gln1415Leu)
c.3581A>T (p.Gln1194Leu)
c.8096A>T (p.Gln2699Leu)
 COSMIC
5g.13770860T>CCA359204658DNAH5c.9494A>G (p.Gln3165Arg)
c.9449A>G (p.Gln3150Arg)
n.206A>G
c.9602A>G (p.Gln3201Arg)
c.8507A>G (p.Gln2836Arg)
c.4691A>G (p.Gln1564Arg)
c.4244A>G (p.Gln1415Arg)
c.3581A>G (p.Gln1194Arg)
c.8096A>G (p.Gln2699Arg)
5g.13770860T>GCA359204662DNAH5c.9494A>C (p.Gln3165Pro)
c.9449A>C (p.Gln3150Pro)
n.206A>C
c.9602A>C (p.Gln3201Pro)
c.8507A>C (p.Gln2836Pro)
c.4691A>C (p.Gln1564Pro)
c.4244A>C (p.Gln1415Pro)
c.3581A>C (p.Gln1194Pro)
c.8096A>C (p.Gln2699Pro)
5g.13770861G>ACA359204667DNAH5c.9493C>T (p.Gln3165Ter)
c.9448C>T (p.Gln3150Ter)
n.205C>T
c.9601C>T (p.Gln3201Ter)
c.8506C>T (p.Gln2836Ter)
c.4690C>T (p.Gln1564Ter)
c.4243C>T (p.Gln1415Ter)
c.3580C>T (p.Gln1194Ter)
c.8095C>T (p.Gln2699Ter)
 COSMIC
5g.13770861G>CCA359204670DNAH5c.9493C>G (p.Gln3165Glu)
c.9448C>G (p.Gln3150Glu)
n.205C>G
c.9601C>G (p.Gln3201Glu)
c.8506C>G (p.Gln2836Glu)
c.4690C>G (p.Gln1564Glu)
c.4243C>G (p.Gln1415Glu)
c.3580C>G (p.Gln1194Glu)
c.8095C>G (p.Gln2699Glu)
5g.13770861G>TCA359204673DNAH5c.9493C>A (p.Gln3165Lys)
c.9448C>A (p.Gln3150Lys)
n.205C>A
c.9601C>A (p.Gln3201Lys)
c.8506C>A (p.Gln2836Lys)
c.4690C>A (p.Gln1564Lys)
c.4243C>A (p.Gln1415Lys)
c.3580C>A (p.Gln1194Lys)
c.8095C>A (p.Gln2699Lys)
5g.13770862A>CCA359204678DNAH5c.9492T>G (p.Phe3164Leu)
c.9447T>G (p.Phe3149Leu)
n.204T>G
c.9600T>G (p.Phe3200Leu)
c.8505T>G (p.Phe2835Leu)
c.4689T>G (p.Phe1563Leu)
c.4242T>G (p.Phe1414Leu)
c.3579T>G (p.Phe1193Leu)
c.8094T>G (p.Phe2698Leu)
5g.13770862A>GCA443535617DNAH5c.9492T>C (p.Phe3164=)
c.9447T>C (p.Phe3149=)
n.204T>C
c.9600T>C (p.Phe3200=)
c.8505T>C (p.Phe2835=)
c.4689T>C (p.Phe1563=)
c.4242T>C (p.Phe1414=)
c.3579T>C (p.Phe1193=)
c.8094T>C (p.Phe2698=)
5g.13770862A>TCA359204681DNAH5c.9492T>A (p.Phe3164Leu)
c.9447T>A (p.Phe3149Leu)
n.204T>A
c.9600T>A (p.Phe3200Leu)
c.8505T>A (p.Phe2835Leu)
c.4689T>A (p.Phe1563Leu)
c.4242T>A (p.Phe1414Leu)
c.3579T>A (p.Phe1193Leu)
c.8094T>A (p.Phe2698Leu)
5g.13770863A>CCA359204682DNAH5c.9491T>G (p.Phe3164Cys)
c.9446T>G (p.Phe3149Cys)
n.203T>G
c.9599T>G (p.Phe3200Cys)
c.8504T>G (p.Phe2835Cys)
c.4688T>G (p.Phe1563Cys)
c.4241T>G (p.Phe1414Cys)
c.3578T>G (p.Phe1193Cys)
c.8093T>G (p.Phe2698Cys)
5g.13770863A>GCA359204685DNAH5c.9491T>C (p.Phe3164Ser)
c.9446T>C (p.Phe3149Ser)
n.203T>C
c.9599T>C (p.Phe3200Ser)
c.8504T>C (p.Phe2835Ser)
c.4688T>C (p.Phe1563Ser)
c.4241T>C (p.Phe1414Ser)
c.3578T>C (p.Phe1193Ser)
c.8093T>C (p.Phe2698Ser)
5g.13770863A>TCA359204689DNAH5c.9491T>A (p.Phe3164Tyr)
c.9446T>A (p.Phe3149Tyr)
n.203T>A
c.9599T>A (p.Phe3200Tyr)
c.8504T>A (p.Phe2835Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4241T>A (p.Phe1414Tyr)
c.3578T>A (p.Phe1193Tyr)
c.8093T>A (p.Phe2698Tyr)
5g.13770864A=CA1528431214DNAH5c.9490T= (p.Phe3164=)
c.9445T= (p.Phe3149=)
n.202T=
c.9598T= (p.Phe3200=)
c.8503T= (p.Phe2835=)
c.4687T= (p.Phe1563=)
c.4240T= (p.Phe1414=)
c.3577T= (p.Phe1193=)
c.8092T= (p.Phe2698=)
5g.13770864A>CCA3202536DNAH5c.9490T>G (p.Phe3164Val)
c.9445T>G (p.Phe3149Val)
n.202T>G
c.9598T>G (p.Phe3200Val)
c.8503T>G (p.Phe2835Val)
c.4687T>G (p.Phe1563Val)
c.4240T>G (p.Phe1414Val)
c.3577T>G (p.Phe1193Val)
c.8092T>G (p.Phe2698Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770864A>GCA359204699DNAH5c.9490T>C (p.Phe3164Leu)
c.9445T>C (p.Phe3149Leu)
n.202T>C
c.9598T>C (p.Phe3200Leu)
c.8503T>C (p.Phe2835Leu)
c.4687T>C (p.Phe1563Leu)
c.4240T>C (p.Phe1414Leu)
c.3577T>C (p.Phe1193Leu)
c.8092T>C (p.Phe2698Leu)
5g.13770864A>TCA359204696DNAH5c.9490T>A (p.Phe3164Ile)
c.9445T>A (p.Phe3149Ile)
n.202T>A
c.9598T>A (p.Phe3200Ile)
c.8503T>A (p.Phe2835Ile)
c.4687T>A (p.Phe1563Ile)
c.4240T>A (p.Phe1414Ile)
c.3577T>A (p.Phe1193Ile)
c.8092T>A (p.Phe2698Ile)
5g.13770865A=CA1528431215DNAH5c.9489T= (p.Tyr3163=)
c.9444T= (p.Tyr3148=)
n.201T=
c.9597T= (p.Tyr3199=)
c.8502T= (p.Tyr2834=)
c.4686T= (p.Tyr1562=)
c.4239T= (p.Tyr1413=)
c.3576T= (p.Tyr1192=)
c.8091T= (p.Tyr2697=)
5g.13770865A>CCA359204700DNAH5c.9489T>G (p.Tyr3163Ter)
c.9444T>G (p.Tyr3148Ter)
n.201T>G
c.9597T>G (p.Tyr3199Ter)
c.8502T>G (p.Tyr2834Ter)
c.4686T>G (p.Tyr1562Ter)
c.4239T>G (p.Tyr1413Ter)
c.3576T>G (p.Tyr1192Ter)
c.8091T>G (p.Tyr2697Ter)
 ClinVar
5g.13770865A>GCA113932995DNAH5c.9489T>C (p.Tyr3163=)
c.9444T>C (p.Tyr3148=)
n.201T>C
c.9597T>C (p.Tyr3199=)
c.8502T>C (p.Tyr2834=)
c.4686T>C (p.Tyr1562=)
c.4239T>C (p.Tyr1413=)
c.3576T>C (p.Tyr1192=)
c.8091T>C (p.Tyr2697=)
 ClinVar dbSNP gnomAD v4
5g.13770865A>TCA359204703DNAH5c.9489T>A (p.Tyr3163Ter)
c.9444T>A (p.Tyr3148Ter)
n.201T>A
c.9597T>A (p.Tyr3199Ter)
c.8502T>A (p.Tyr2834Ter)
c.4686T>A (p.Tyr1562Ter)
c.4239T>A (p.Tyr1413Ter)
c.3576T>A (p.Tyr1192Ter)
c.8091T>A (p.Tyr2697Ter)
5g.13770866T>ACA359204704DNAH5c.9488A>T (p.Tyr3163Phe)
c.9443A>T (p.Tyr3148Phe)
n.200A>T
c.9596A>T (p.Tyr3199Phe)
c.8501A>T (p.Tyr2834Phe)
c.4685A>T (p.Tyr1562Phe)
c.4238A>T (p.Tyr1413Phe)
c.3575A>T (p.Tyr1192Phe)
c.8090A>T (p.Tyr2697Phe)
5g.13770866T>CCA359204705DNAH5c.9488A>G (p.Tyr3163Cys)
c.9443A>G (p.Tyr3148Cys)
n.200A>G
c.9596A>G (p.Tyr3199Cys)
c.8501A>G (p.Tyr2834Cys)
c.4685A>G (p.Tyr1562Cys)
c.4238A>G (p.Tyr1413Cys)
c.3575A>G (p.Tyr1192Cys)
c.8090A>G (p.Tyr2697Cys)
5g.13770866T>GCA359204706DNAH5c.9488A>C (p.Tyr3163Ser)
c.9443A>C (p.Tyr3148Ser)
n.200A>C
c.9596A>C (p.Tyr3199Ser)
c.8501A>C (p.Tyr2834Ser)
c.4685A>C (p.Tyr1562Ser)
c.4238A>C (p.Tyr1413Ser)
c.3575A>C (p.Tyr1192Ser)
c.8090A>C (p.Tyr2697Ser)
5g.13770867A>CCA359204710DNAH5c.9487T>G (p.Tyr3163Asp)
c.9442T>G (p.Tyr3148Asp)
n.199T>G
c.9595T>G (p.Tyr3199Asp)
c.8500T>G (p.Tyr2834Asp)
c.4684T>G (p.Tyr1562Asp)
c.4237T>G (p.Tyr1413Asp)
c.3574T>G (p.Tyr1192Asp)
c.8089T>G (p.Tyr2697Asp)
5g.13770867A>GCA359204707DNAH5c.9487T>C (p.Tyr3163His)
c.9442T>C (p.Tyr3148His)
n.199T>C
c.9595T>C (p.Tyr3199His)
c.8500T>C (p.Tyr2834His)
c.4684T>C (p.Tyr1562His)
c.4237T>C (p.Tyr1413His)
c.3574T>C (p.Tyr1192His)
c.8089T>C (p.Tyr2697His)
 gnomAD v4
5g.13770867A>TCA359204708DNAH5c.9487T>A (p.Tyr3163Asn)
c.9442T>A (p.Tyr3148Asn)
n.199T>A
c.9595T>A (p.Tyr3199Asn)
c.8500T>A (p.Tyr2834Asn)
c.4684T>A (p.Tyr1562Asn)
c.4237T>A (p.Tyr1413Asn)
c.3574T>A (p.Tyr1192Asn)
c.8089T>A (p.Tyr2697Asn)
5g.13770869_13770872delCA2695204135DNAH5c.9484_9487del (p.Asp3162IlefsTer11)
c.9439_9442del (p.Asp3147IlefsTer11)
n.196_199del
c.9592_9595del (p.Asp3198IlefsTer11)
c.8497_8500del (p.Asp2833IlefsTer11)
c.4681_4684del (p.Asp1561IlefsTer11)
c.4234_4237del (p.Asp1412IlefsTer11)
c.3571_3574del (p.Asp1191IlefsTer11)
c.8086_8089del (p.Asp2696IlefsTer11)
5g.13770868A>CCA359204713DNAH5c.9486T>G (p.Asp3162Glu)
c.9441T>G (p.Asp3147Glu)
n.198T>G
c.9594T>G (p.Asp3198Glu)
c.8499T>G (p.Asp2833Glu)
c.4683T>G (p.Asp1561Glu)
c.4236T>G (p.Asp1412Glu)
c.3573T>G (p.Asp1191Glu)
c.8088T>G (p.Asp2696Glu)
5g.13770868A>GCA443535623DNAH5c.9486T>C (p.Asp3162=)
c.9441T>C (p.Asp3147=)
n.198T>C
c.9594T>C (p.Asp3198=)
c.8499T>C (p.Asp2833=)
c.4683T>C (p.Asp1561=)
c.4236T>C (p.Asp1412=)
c.3573T>C (p.Asp1191=)
c.8088T>C (p.Asp2696=)
 gnomAD v4
5g.13770868A>TCA359204715DNAH5c.9486T>A (p.Asp3162Glu)
c.9441T>A (p.Asp3147Glu)
n.198T>A
c.9594T>A (p.Asp3198Glu)
c.8499T>A (p.Asp2833Glu)
c.4683T>A (p.Asp1561Glu)
c.4236T>A (p.Asp1412Glu)
c.3573T>A (p.Asp1191Glu)
c.8088T>A (p.Asp2696Glu)
5g.13770869T>ACA359204718DNAH5c.9485A>T (p.Asp3162Val)
c.9440A>T (p.Asp3147Val)
n.197A>T
c.9593A>T (p.Asp3198Val)
c.8498A>T (p.Asp2833Val)
c.4682A>T (p.Asp1561Val)
c.4235A>T (p.Asp1412Val)
c.3572A>T (p.Asp1191Val)
c.8087A>T (p.Asp2696Val)
5g.13770869T>CCA359204722DNAH5c.9485A>G (p.Asp3162Gly)
c.9440A>G (p.Asp3147Gly)
n.197A>G
c.9593A>G (p.Asp3198Gly)
c.8498A>G (p.Asp2833Gly)
c.4682A>G (p.Asp1561Gly)
c.4235A>G (p.Asp1412Gly)
c.3572A>G (p.Asp1191Gly)
c.8087A>G (p.Asp2696Gly)
5g.13770869T>GCA359204724DNAH5c.9485A>C (p.Asp3162Ala)
c.9440A>C (p.Asp3147Ala)
n.197A>C
c.9593A>C (p.Asp3198Ala)
c.8498A>C (p.Asp2833Ala)
c.4682A>C (p.Asp1561Ala)
c.4235A>C (p.Asp1412Ala)
c.3572A>C (p.Asp1191Ala)
c.8087A>C (p.Asp2696Ala)
5g.13770870C>ACA359204728DNAH5c.9484G>T (p.Asp3162Tyr)
c.9439G>T (p.Asp3147Tyr)
n.196G>T
c.9592G>T (p.Asp3198Tyr)
c.8497G>T (p.Asp2833Tyr)
c.4681G>T (p.Asp1561Tyr)
c.4234G>T (p.Asp1412Tyr)
c.3571G>T (p.Asp1191Tyr)
c.8086G>T (p.Asp2696Tyr)
5g.13770870C=CA1528431216DNAH5c.9484G= (p.Asp3162=)
c.9439G= (p.Asp3147=)
n.196G=
c.9592G= (p.Asp3198=)
c.8497G= (p.Asp2833=)
c.4681G= (p.Asp1561=)
c.4234G= (p.Asp1412=)
c.3571G= (p.Asp1191=)
c.8086G= (p.Asp2696=)
5g.13770870C>GCA359204732DNAH5c.9484G>C (p.Asp3162His)
c.9439G>C (p.Asp3147His)
n.196G>C
c.9592G>C (p.Asp3198His)
c.8497G>C (p.Asp2833His)
c.4681G>C (p.Asp1561His)
c.4234G>C (p.Asp1412His)
c.3571G>C (p.Asp1191His)
c.8086G>C (p.Asp2696His)
 dbSNP gnomAD v4
5g.13770870C>TCA359204729DNAH5c.9484G>A (p.Asp3162Asn)
c.9439G>A (p.Asp3147Asn)
n.196G>A
c.9592G>A (p.Asp3198Asn)
c.8497G>A (p.Asp2833Asn)
c.4681G>A (p.Asp1561Asn)
c.4234G>A (p.Asp1412Asn)
c.3571G>A (p.Asp1191Asn)
c.8086G>A (p.Asp2696Asn)
5g.13770871A>CCA443535625DNAH5c.9483T>G (p.Val3161=)
c.9438T>G (p.Val3146=)
n.195T>G
c.9591T>G (p.Val3197=)
c.8496T>G (p.Val2832=)
c.4680T>G (p.Val1560=)
c.4233T>G (p.Val1411=)
c.3570T>G (p.Val1190=)
c.8085T>G (p.Val2695=)
5g.13770871A>GCA443535627DNAH5c.9483T>C (p.Val3161=)
c.9438T>C (p.Val3146=)
n.195T>C
c.9591T>C (p.Val3197=)
c.8496T>C (p.Val2832=)
c.4680T>C (p.Val1560=)
c.4233T>C (p.Val1411=)
c.3570T>C (p.Val1190=)
c.8085T>C (p.Val2695=)
5g.13770871A>TCA443535628DNAH5c.9483T>A (p.Val3161=)
c.9438T>A (p.Val3146=)
n.195T>A
c.9591T>A (p.Val3197=)
c.8496T>A (p.Val2832=)
c.4680T>A (p.Val1560=)
c.4233T>A (p.Val1411=)
c.3570T>A (p.Val1190=)
c.8085T>A (p.Val2695=)
5g.13770872A=CA1528431217DNAH5c.9482T= (p.Val3161=)
c.9437T= (p.Val3146=)
n.194T=
c.9590T= (p.Val3197=)
c.8495T= (p.Val2832=)
c.4679T= (p.Val1560=)
c.4232T= (p.Val1411=)
c.3569T= (p.Val1190=)
c.8084T= (p.Val2695=)
5g.13770872A>CCA359204736DNAH5c.9482T>G (p.Val3161Gly)
c.9437T>G (p.Val3146Gly)
n.194T>G
c.9590T>G (p.Val3197Gly)
c.8495T>G (p.Val2832Gly)
c.4679T>G (p.Val1560Gly)
c.4232T>G (p.Val1411Gly)
c.3569T>G (p.Val1190Gly)
c.8084T>G (p.Val2695Gly)
5g.13770872A>GCA359204738DNAH5c.9482T>C (p.Val3161Ala)
c.9437T>C (p.Val3146Ala)
n.194T>C
c.9590T>C (p.Val3197Ala)
c.8495T>C (p.Val2832Ala)
c.4679T>C (p.Val1560Ala)
c.4232T>C (p.Val1411Ala)
c.3569T>C (p.Val1190Ala)
c.8084T>C (p.Val2695Ala)
 dbSNP
5g.13770872A>TCA113933001DNAH5c.9482T>A (p.Val3161Asp)
c.9437T>A (p.Val3146Asp)
n.194T>A
c.9590T>A (p.Val3197Asp)
c.8495T>A (p.Val2832Asp)
c.4679T>A (p.Val1560Asp)
c.4232T>A (p.Val1411Asp)
c.3569T>A (p.Val1190Asp)
c.8084T>A (p.Val2695Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13770873C>ACA3202537DNAH5c.9481G>T (p.Val3161Phe)
c.9436G>T (p.Val3146Phe)
n.193G>T
c.9589G>T (p.Val3197Phe)
c.8494G>T (p.Val2832Phe)
c.4678G>T (p.Val1560Phe)
c.4231G>T (p.Val1411Phe)
c.3568G>T (p.Val1190Phe)
c.8083G>T (p.Val2695Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770873C=CA1528431218DNAH5c.9481G= (p.Val3161=)
c.9436G= (p.Val3146=)
n.193G=
c.9589G= (p.Val3197=)
c.8494G= (p.Val2832=)
c.4678G= (p.Val1560=)
c.4231G= (p.Val1411=)
c.3568G= (p.Val1190=)
c.8083G= (p.Val2695=)
5g.13770873C>GCA359204742DNAH5c.9481G>C (p.Val3161Leu)
c.9436G>C (p.Val3146Leu)
n.193G>C
c.9589G>C (p.Val3197Leu)
c.8494G>C (p.Val2832Leu)
c.4678G>C (p.Val1560Leu)
c.4231G>C (p.Val1411Leu)
c.3568G>C (p.Val1190Leu)
c.8083G>C (p.Val2695Leu)
5g.13770873C>TCA359204744DNAH5c.9481G>A (p.Val3161Ile)
c.9436G>A (p.Val3146Ile)
n.193G>A
c.9589G>A (p.Val3197Ile)
c.8494G>A (p.Val2832Ile)
c.4678G>A (p.Val1560Ile)
c.4231G>A (p.Val1411Ile)
c.3568G>A (p.Val1190Ile)
c.8083G>A (p.Val2695Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.13770874A=CA1528431219DNAH5c.9480T= (p.Cys3160=)
c.9435T= (p.Cys3145=)
n.192T=
c.9588T= (p.Cys3196=)
c.8493T= (p.Cys2831=)
c.4677T= (p.Cys1559=)
c.4230T= (p.Cys1410=)
c.3567T= (p.Cys1189=)
c.8082T= (p.Cys2694=)
5g.13770874A>CCA359204749DNAH5c.9480T>G (p.Cys3160Trp)
c.9435T>G (p.Cys3145Trp)
n.192T>G
c.9588T>G (p.Cys3196Trp)
c.8493T>G (p.Cys2831Trp)
c.4677T>G (p.Cys1559Trp)
c.4230T>G (p.Cys1410Trp)
c.3567T>G (p.Cys1189Trp)
c.8082T>G (p.Cys2694Trp)
5g.13770874A>GCA443535630DNAH5c.9480T>C (p.Cys3160=)
c.9435T>C (p.Cys3145=)
n.192T>C
c.9588T>C (p.Cys3196=)
c.8493T>C (p.Cys2831=)
c.4677T>C (p.Cys1559=)
c.4230T>C (p.Cys1410=)
c.3567T>C (p.Cys1189=)
c.8082T>C (p.Cys2694=)
 gnomAD v4
5g.13770874A>TCA3202538DNAH5c.9480T>A (p.Cys3160Ter)
c.9435T>A (p.Cys3145Ter)
n.192T>A
c.9588T>A (p.Cys3196Ter)
c.8493T>A (p.Cys2831Ter)
c.4677T>A (p.Cys1559Ter)
c.4230T>A (p.Cys1410Ter)
c.3567T>A (p.Cys1189Ter)
c.8082T>A (p.Cys2694Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770875C>ACA359204755DNAH5c.9479G>T (p.Cys3160Phe)
c.9434G>T (p.Cys3145Phe)
n.191G>T
c.9587G>T (p.Cys3196Phe)
c.8492G>T (p.Cys2831Phe)
c.4676G>T (p.Cys1559Phe)
c.4229G>T (p.Cys1410Phe)
c.3566G>T (p.Cys1189Phe)
c.8081G>T (p.Cys2694Phe)
5g.13770875C>GCA359204760DNAH5c.9479G>C (p.Cys3160Ser)
c.9434G>C (p.Cys3145Ser)
n.191G>C
c.9587G>C (p.Cys3196Ser)
c.8492G>C (p.Cys2831Ser)
c.4676G>C (p.Cys1559Ser)
c.4229G>C (p.Cys1410Ser)
c.3566G>C (p.Cys1189Ser)
c.8081G>C (p.Cys2694Ser)
5g.13770875C>TCA359204764DNAH5c.9479G>A (p.Cys3160Tyr)
c.9434G>A (p.Cys3145Tyr)
n.191G>A
c.9587G>A (p.Cys3196Tyr)
c.8492G>A (p.Cys2831Tyr)
c.4676G>A (p.Cys1559Tyr)
c.4229G>A (p.Cys1410Tyr)
c.3566G>A (p.Cys1189Tyr)
c.8081G>A (p.Cys2694Tyr)
5g.13770876A=CA1528431220DNAH5c.9478T= (p.Cys3160=)
c.9433T= (p.Cys3145=)
n.190T=
c.9586T= (p.Cys3196=)
c.8491T= (p.Cys2831=)
c.4675T= (p.Cys1559=)
c.4228T= (p.Cys1410=)
c.3565T= (p.Cys1189=)
c.8080T= (p.Cys2694=)
5g.13770876A>CCA359204772DNAH5c.9478T>G (p.Cys3160Gly)
c.9433T>G (p.Cys3145Gly)
n.190T>G
c.9586T>G (p.Cys3196Gly)
c.8491T>G (p.Cys2831Gly)
c.4675T>G (p.Cys1559Gly)
c.4228T>G (p.Cys1410Gly)
c.3565T>G (p.Cys1189Gly)
c.8080T>G (p.Cys2694Gly)
5g.13770876A>GCA3202539DNAH5c.9478T>C (p.Cys3160Arg)
c.9433T>C (p.Cys3145Arg)
n.190T>C
c.9586T>C (p.Cys3196Arg)
c.8491T>C (p.Cys2831Arg)
c.4675T>C (p.Cys1559Arg)
c.4228T>C (p.Cys1410Arg)
c.3565T>C (p.Cys1189Arg)
c.8080T>C (p.Cys2694Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770876A>TCA359204767DNAH5c.9478T>A (p.Cys3160Ser)
c.9433T>A (p.Cys3145Ser)
n.190T>A
c.9586T>A (p.Cys3196Ser)
c.8491T>A (p.Cys2831Ser)
c.4675T>A (p.Cys1559Ser)
c.4228T>A (p.Cys1410Ser)
c.3565T>A (p.Cys1189Ser)
c.8080T>A (p.Cys2694Ser)
5g.13770877C>ACA359204786DNAH5c.9477G>T (p.Lys3159Asn)
c.9432G>T (p.Lys3144Asn)
n.189G>T
c.9585G>T (p.Lys3195Asn)
c.8490G>T (p.Lys2830Asn)
c.4674G>T (p.Lys1558Asn)
c.4227G>T (p.Lys1409Asn)
c.3564G>T (p.Lys1188Asn)
c.8079G>T (p.Lys2693Asn)
5g.13770877C=CA1528431221DNAH5c.9477G= (p.Lys3159=)
c.9432G= (p.Lys3144=)
n.189G=
c.9585G= (p.Lys3195=)
c.8490G= (p.Lys2830=)
c.4674G= (p.Lys1558=)
c.4227G= (p.Lys1409=)
c.3564G= (p.Lys1188=)
c.8079G= (p.Lys2693=)
5g.13770877C>GCA359204790DNAH5c.9477G>C (p.Lys3159Asn)
c.9432G>C (p.Lys3144Asn)
n.189G>C
c.9585G>C (p.Lys3195Asn)
c.8490G>C (p.Lys2830Asn)
c.4674G>C (p.Lys1558Asn)
c.4227G>C (p.Lys1409Asn)
c.3564G>C (p.Lys1188Asn)
c.8079G>C (p.Lys2693Asn)
5g.13770877C>TCA443535640DNAH5c.9477G>A (p.Lys3159=)
c.9432G>A (p.Lys3144=)
n.189G>A
c.9585G>A (p.Lys3195=)
c.8490G>A (p.Lys2830=)
c.4674G>A (p.Lys1558=)
c.4227G>A (p.Lys1409=)
c.3564G>A (p.Lys1188=)
c.8079G>A (p.Lys2693=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13770878T>ACA359204794DNAH5c.9476A>T (p.Lys3159Met)
c.9431A>T (p.Lys3144Met)
n.188A>T
c.9584A>T (p.Lys3195Met)
c.8489A>T (p.Lys2830Met)
c.4673A>T (p.Lys1558Met)
c.4226A>T (p.Lys1409Met)
c.3563A>T (p.Lys1188Met)
c.8078A>T (p.Lys2693Met)
5g.13770878T>CCA359204804DNAH5c.9476A>G (p.Lys3159Arg)
c.9431A>G (p.Lys3144Arg)
n.188A>G
c.9584A>G (p.Lys3195Arg)
c.8489A>G (p.Lys2830Arg)
c.4673A>G (p.Lys1558Arg)
c.4226A>G (p.Lys1409Arg)
c.3563A>G (p.Lys1188Arg)
c.8078A>G (p.Lys2693Arg)
5g.13770878T>GCA359204796DNAH5c.9476A>C (p.Lys3159Thr)
c.9431A>C (p.Lys3144Thr)
n.188A>C
c.9584A>C (p.Lys3195Thr)
c.8489A>C (p.Lys2830Thr)
c.4673A>C (p.Lys1558Thr)
c.4226A>C (p.Lys1409Thr)
c.3563A>C (p.Lys1188Thr)
c.8078A>C (p.Lys2693Thr)
5g.13770879T>ACA3202540DNAH5c.9475A>T (p.Lys3159Ter)
c.9430A>T (p.Lys3144Ter)
n.187A>T
c.9583A>T (p.Lys3195Ter)
c.8488A>T (p.Lys2830Ter)
c.4672A>T (p.Lys1558Ter)
c.4225A>T (p.Lys1409Ter)
c.3562A>T (p.Lys1188Ter)
c.8077A>T (p.Lys2693Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770879T>CCA359204814DNAH5c.9475A>G (p.Lys3159Glu)
c.9430A>G (p.Lys3144Glu)
n.187A>G
c.9583A>G (p.Lys3195Glu)
c.8488A>G (p.Lys2830Glu)
c.4672A>G (p.Lys1558Glu)
c.4225A>G (p.Lys1409Glu)
c.3562A>G (p.Lys1188Glu)
c.8077A>G (p.Lys2693Glu)
5g.13770879T>GCA359204811DNAH5c.9475A>C (p.Lys3159Gln)
c.9430A>C (p.Lys3144Gln)
n.187A>C
c.9583A>C (p.Lys3195Gln)
c.8488A>C (p.Lys2830Gln)
c.4672A>C (p.Lys1558Gln)
c.4225A>C (p.Lys1409Gln)
c.3562A>C (p.Lys1188Gln)
c.8077A>C (p.Lys2693Gln)
 dbSNP
5g.13770879T=CA1528431222DNAH5c.9475A= (p.Lys3159=)
c.9430A= (p.Lys3144=)
n.187A=
c.9583A= (p.Lys3195=)
c.8488A= (p.Lys2830=)
c.4672A= (p.Lys1558=)
c.4225A= (p.Lys1409=)
c.3562A= (p.Lys1188=)
c.8077A= (p.Lys2693=)
5g.13770880C>ACA359204817DNAH5c.9474G>T (p.Glu3158Asp)
c.9429G>T (p.Glu3143Asp)
n.186G>T
c.9582G>T (p.Glu3194Asp)
c.8487G>T (p.Glu2829Asp)
c.4671G>T (p.Glu1557Asp)
c.4224G>T (p.Glu1408Asp)
c.3561G>T (p.Glu1187Asp)
c.8076G>T (p.Glu2692Asp)
 COSMIC
5g.13770880C>GCA359204819DNAH5c.9474G>C (p.Glu3158Asp)
c.9429G>C (p.Glu3143Asp)
n.186G>C
c.9582G>C (p.Glu3194Asp)
c.8487G>C (p.Glu2829Asp)
c.4671G>C (p.Glu1557Asp)
c.4224G>C (p.Glu1408Asp)
c.3561G>C (p.Glu1187Asp)
c.8076G>C (p.Glu2692Asp)
5g.13770880C>TCA443535647DNAH5c.9474G>A (p.Glu3158=)
c.9429G>A (p.Glu3143=)
n.186G>A
c.9582G>A (p.Glu3194=)
c.8487G>A (p.Glu2829=)
c.4671G>A (p.Glu1557=)
c.4224G>A (p.Glu1408=)
c.3561G>A (p.Glu1187=)
c.8076G>A (p.Glu2692=)
 gnomAD v4
5g.13770881T>ACA359204822DNAH5c.9473A>T (p.Glu3158Val)
c.9428A>T (p.Glu3143Val)
n.185A>T
c.9581A>T (p.Glu3194Val)
c.8486A>T (p.Glu2829Val)
c.4670A>T (p.Glu1557Val)
c.4223A>T (p.Glu1408Val)
c.3560A>T (p.Glu1187Val)
c.8075A>T (p.Glu2692Val)
5g.13770881T>CCA359204824DNAH5c.9473A>G (p.Glu3158Gly)
c.9428A>G (p.Glu3143Gly)
n.185A>G
c.9581A>G (p.Glu3194Gly)
c.8486A>G (p.Glu2829Gly)
c.4670A>G (p.Glu1557Gly)
c.4223A>G (p.Glu1408Gly)
c.3560A>G (p.Glu1187Gly)
c.8075A>G (p.Glu2692Gly)
5g.13770881T>GCA359204825DNAH5c.9473A>C (p.Glu3158Ala)
c.9428A>C (p.Glu3143Ala)
n.185A>C
c.9581A>C (p.Glu3194Ala)
c.8486A>C (p.Glu2829Ala)
c.4670A>C (p.Glu1557Ala)
c.4223A>C (p.Glu1408Ala)
c.3560A>C (p.Glu1187Ala)
c.8075A>C (p.Glu2692Ala)
5g.13770882C>ACA359204826DNAH5c.9472G>T (p.Glu3158Ter)
c.9427G>T (p.Glu3143Ter)
n.184G>T
c.9580G>T (p.Glu3194Ter)
c.8485G>T (p.Glu2829Ter)
c.4669G>T (p.Glu1557Ter)
c.4222G>T (p.Glu1408Ter)
c.3559G>T (p.Glu1187Ter)
c.8074G>T (p.Glu2692Ter)
5g.13770882C=CA1528431223DNAH5c.9472G= (p.Glu3158=)
c.9427G= (p.Glu3143=)
n.184G=
c.9580G= (p.Glu3194=)
c.8485G= (p.Glu2829=)
c.4669G= (p.Glu1557=)
c.4222G= (p.Glu1408=)
c.3559G= (p.Glu1187=)
c.8074G= (p.Glu2692=)
5g.13770882C>GCA359204828DNAH5c.9472G>C (p.Glu3158Gln)
c.9427G>C (p.Glu3143Gln)
n.184G>C
c.9580G>C (p.Glu3194Gln)
c.8485G>C (p.Glu2829Gln)
c.4669G>C (p.Glu1557Gln)
c.4222G>C (p.Glu1408Gln)
c.3559G>C (p.Glu1187Gln)
c.8074G>C (p.Glu2692Gln)
5g.13770882C>TCA113933049DNAH5c.9472G>A (p.Glu3158Lys)
c.9427G>A (p.Glu3143Lys)
n.184G>A
c.9580G>A (p.Glu3194Lys)
c.8485G>A (p.Glu2829Lys)
c.4669G>A (p.Glu1557Lys)
c.4222G>A (p.Glu1408Lys)
c.3559G>A (p.Glu1187Lys)
c.8074G>A (p.Glu2692Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770883A>CCA443535652DNAH5c.9471T>G (p.Ala3157=)
c.9426T>G (p.Ala3142=)
n.183T>G
c.9579T>G (p.Ala3193=)
c.8484T>G (p.Ala2828=)
c.4668T>G (p.Ala1556=)
c.4221T>G (p.Ala1407=)
c.3558T>G (p.Ala1186=)
c.8073T>G (p.Ala2691=)
 gnomAD v4
5g.13770883A>GCA443535653DNAH5c.9471T>C (p.Ala3157=)
c.9426T>C (p.Ala3142=)
n.183T>C
c.9579T>C (p.Ala3193=)
c.8484T>C (p.Ala2828=)
c.4668T>C (p.Ala1556=)
c.4221T>C (p.Ala1407=)
c.3558T>C (p.Ala1186=)
c.8073T>C (p.Ala2691=)
5g.13770883A>TCA443535654DNAH5c.9471T>A (p.Ala3157=)
c.9426T>A (p.Ala3142=)
n.183T>A
c.9579T>A (p.Ala3193=)
c.8484T>A (p.Ala2828=)
c.4668T>A (p.Ala1556=)
c.4221T>A (p.Ala1407=)
c.3558T>A (p.Ala1186=)
c.8073T>A (p.Ala2691=)
5g.13770884G>ACA3202541DNAH5c.9470C>T (p.Ala3157Val)
c.9425C>T (p.Ala3142Val)
n.182C>T
c.9578C>T (p.Ala3193Val)
c.8483C>T (p.Ala2828Val)
c.4667C>T (p.Ala1556Val)
c.4220C>T (p.Ala1407Val)
c.3557C>T (p.Ala1186Val)
c.8072C>T (p.Ala2691Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13770884G>CCA359204835DNAH5c.9470C>G (p.Ala3157Gly)
c.9425C>G (p.Ala3142Gly)
n.182C>G
c.9578C>G (p.Ala3193Gly)
c.8483C>G (p.Ala2828Gly)
c.4667C>G (p.Ala1556Gly)
c.4220C>G (p.Ala1407Gly)
c.3557C>G (p.Ala1186Gly)
c.8072C>G (p.Ala2691Gly)
5g.13770884G=CA1528431224DNAH5c.9470C= (p.Ala3157=)
c.9425C= (p.Ala3142=)
n.182C=
c.9578C= (p.Ala3193=)
c.8483C= (p.Ala2828=)
c.4667C= (p.Ala1556=)
c.4220C= (p.Ala1407=)
c.3557C= (p.Ala1186=)
c.8072C= (p.Ala2691=)
5g.13770884G>TCA113933058DNAH5c.9470C>A (p.Ala3157Asp)
c.9425C>A (p.Ala3142Asp)
n.182C>A
c.9578C>A (p.Ala3193Asp)
c.8483C>A (p.Ala2828Asp)
c.4667C>A (p.Ala1556Asp)
c.4220C>A (p.Ala1407Asp)
c.3557C>A (p.Ala1186Asp)
c.8072C>A (p.Ala2691Asp)
 dbSNP gnomAD v4
5g.13770885C>ACA359204836DNAH5c.9469G>T (p.Ala3157Ser)
c.9424G>T (p.Ala3142Ser)
n.181G>T
c.9577G>T (p.Ala3193Ser)
c.8482G>T (p.Ala2828Ser)
c.4666G>T (p.Ala1556Ser)
c.4219G>T (p.Ala1407Ser)
c.3556G>T (p.Ala1186Ser)
c.8071G>T (p.Ala2691Ser)
5g.13770885C>GCA359204838DNAH5c.9469G>C (p.Ala3157Pro)
c.9424G>C (p.Ala3142Pro)
n.181G>C
c.9577G>C (p.Ala3193Pro)
c.8482G>C (p.Ala2828Pro)
c.4666G>C (p.Ala1556Pro)
c.4219G>C (p.Ala1407Pro)
c.3556G>C (p.Ala1186Pro)
c.8071G>C (p.Ala2691Pro)
5g.13770885C>TCA359204837DNAH5c.9469G>A (p.Ala3157Thr)
c.9424G>A (p.Ala3142Thr)
n.181G>A
c.9577G>A (p.Ala3193Thr)
c.8482G>A (p.Ala2828Thr)
c.4666G>A (p.Ala1556Thr)
c.4219G>A (p.Ala1407Thr)
c.3556G>A (p.Ala1186Thr)
c.8071G>A (p.Ala2691Thr)
 gnomAD v4
5g.13770886C>ACA443535659DNAH5c.9468G>T (p.Val3156=)
c.9423G>T (p.Val3141=)
n.180G>T
c.9576G>T (p.Val3192=)
c.8481G>T (p.Val2827=)
c.4665G>T (p.Val1555=)
c.4218G>T (p.Val1406=)
c.3555G>T (p.Val1185=)
c.8070G>T (p.Val2690=)
5g.13770886C>GCA443535660DNAH5c.9468G>C (p.Val3156=)
c.9423G>C (p.Val3141=)
n.180G>C
c.9576G>C (p.Val3192=)
c.8481G>C (p.Val2827=)
c.4665G>C (p.Val1555=)
c.4218G>C (p.Val1406=)
c.3555G>C (p.Val1185=)
c.8070G>C (p.Val2690=)
5g.13770886C>TCA443535661DNAH5c.9468G>A (p.Val3156=)
c.9423G>A (p.Val3141=)
n.180G>A
c.9576G>A (p.Val3192=)
c.8481G>A (p.Val2827=)
c.4665G>A (p.Val1555=)
c.4218G>A (p.Val1406=)
c.3555G>A (p.Val1185=)
c.8070G>A (p.Val2690=)
 gnomAD v4
5g.13770887A=CA1528431225DNAH5c.9467T= (p.Val3156=)
c.9422T= (p.Val3141=)
n.179T=
c.9575T= (p.Val3192=)
c.8480T= (p.Val2827=)
c.4664T= (p.Val1555=)
c.4217T= (p.Val1406=)
c.3554T= (p.Val1185=)
c.8069T= (p.Val2690=)
5g.13770887A>CCA359204841DNAH5c.9467T>G (p.Val3156Gly)
c.9422T>G (p.Val3141Gly)
n.179T>G
c.9575T>G (p.Val3192Gly)
c.8480T>G (p.Val2827Gly)
c.4664T>G (p.Val1555Gly)
c.4217T>G (p.Val1406Gly)
c.3554T>G (p.Val1185Gly)
c.8069T>G (p.Val2690Gly)
5g.13770887A>GCA359204850DNAH5c.9467T>C (p.Val3156Ala)
c.9422T>C (p.Val3141Ala)
n.179T>C
c.9575T>C (p.Val3192Ala)
c.8480T>C (p.Val2827Ala)
c.4664T>C (p.Val1555Ala)
c.4217T>C (p.Val1406Ala)
c.3554T>C (p.Val1185Ala)
c.8069T>C (p.Val2690Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13770887A>TCA359204853DNAH5c.9467T>A (p.Val3156Glu)
c.9422T>A (p.Val3141Glu)
n.179T>A
c.9575T>A (p.Val3192Glu)
c.8480T>A (p.Val2827Glu)
c.4664T>A (p.Val1555Glu)
c.4217T>A (p.Val1406Glu)
c.3554T>A (p.Val1185Glu)
c.8069T>A (p.Val2690Glu)
5g.13770888C>ACA359204858DNAH5c.9466G>T (p.Val3156Leu)
c.9421G>T (p.Val3141Leu)
n.178G>T
c.9574G>T (p.Val3192Leu)
c.8479G>T (p.Val2827Leu)
c.4663G>T (p.Val1555Leu)
c.4216G>T (p.Val1406Leu)
c.3553G>T (p.Val1185Leu)
c.8068G>T (p.Val2690Leu)
5g.13770888C>GCA359204859DNAH5c.9466G>C (p.Val3156Leu)
c.9421G>C (p.Val3141Leu)
n.178G>C
c.9574G>C (p.Val3192Leu)
c.8479G>C (p.Val2827Leu)
c.4663G>C (p.Val1555Leu)
c.4216G>C (p.Val1406Leu)
c.3553G>C (p.Val1185Leu)
c.8068G>C (p.Val2690Leu)
5g.13770888C>TCA359204861DNAH5c.9466G>A (p.Val3156Met)
c.9421G>A (p.Val3141Met)
n.178G>A
c.9574G>A (p.Val3192Met)
c.8479G>A (p.Val2827Met)
c.4663G>A (p.Val1555Met)
c.4216G>A (p.Val1406Met)
c.3553G>A (p.Val1185Met)
c.8068G>A (p.Val2690Met)
 gnomAD v4
5g.13770890_13770891delCA2580072363DNAH5c.9465_9466del (p.Val3156GlyfsTer2)
c.9420_9421del (p.Val3141GlyfsTer2)
n.177_178del
c.9573_9574del (p.Val3192GlyfsTer2)
c.8478_8479del (p.Val2827GlyfsTer2)
c.4662_4663del (p.Val1555GlyfsTer2)
c.4215_4216del (p.Val1406GlyfsTer2)
c.3552_3553del (p.Val1185GlyfsTer2)
c.8067_8068del (p.Val2690GlyfsTer2)
 ClinVar
5g.13770889C>ACA443535671DNAH5c.9465G>T (p.Gly3155=)
c.9420G>T (p.Gly3140=)
n.177G>T
c.9573G>T (p.Gly3191=)
c.8478G>T (p.Gly2826=)
c.4662G>T (p.Gly1554=)
c.4215G>T (p.Gly1405=)
c.3552G>T (p.Gly1184=)
c.8067G>T (p.Gly2689=)
 dbSNP gnomAD v3 gnomAD v4
5g.13770889C=CA1528431226DNAH5c.9465G= (p.Gly3155=)
c.9420G= (p.Gly3140=)
n.177G=
c.9573G= (p.Gly3191=)
c.8478G= (p.Gly2826=)
c.4662G= (p.Gly1554=)
c.4215G= (p.Gly1405=)
c.3552G= (p.Gly1184=)
c.8067G= (p.Gly2689=)
5g.13770889C>GCA443535669DNAH5c.9465G>C (p.Gly3155=)
c.9420G>C (p.Gly3140=)
n.177G>C
c.9573G>C (p.Gly3191=)
c.8478G>C (p.Gly2826=)
c.4662G>C (p.Gly1554=)
c.4215G>C (p.Gly1405=)
c.3552G>C (p.Gly1184=)
c.8067G>C (p.Gly2689=)
 gnomAD v4
5g.13770889C>TCA443535668DNAH5c.9465G>A (p.Gly3155=)
c.9420G>A (p.Gly3140=)
n.177G>A
c.9573G>A (p.Gly3191=)
c.8478G>A (p.Gly2826=)
c.4662G>A (p.Gly1554=)
c.4215G>A (p.Gly1405=)
c.3552G>A (p.Gly1184=)
c.8067G>A (p.Gly2689=)
 ClinVar gnomAD v4
5g.13770890C>ACA359204863DNAH5c.9464G>T (p.Gly3155Val)
c.9419G>T (p.Gly3140Val)
n.176G>T
c.9572G>T (p.Gly3191Val)
c.8477G>T (p.Gly2826Val)
c.4661G>T (p.Gly1554Val)
c.4214G>T (p.Gly1405Val)
c.3551G>T (p.Gly1184Val)
c.8066G>T (p.Gly2689Val)
 gnomAD v3 gnomAD v4
5g.13770890C>GCA359204865DNAH5c.9464G>C (p.Gly3155Ala)
c.9419G>C (p.Gly3140Ala)
n.176G>C
c.9572G>C (p.Gly3191Ala)
c.8477G>C (p.Gly2826Ala)
c.4661G>C (p.Gly1554Ala)
c.4214G>C (p.Gly1405Ala)
c.3551G>C (p.Gly1184Ala)
c.8066G>C (p.Gly2689Ala)
5g.13770890C>TCA359204870DNAH5c.9464G>A (p.Gly3155Glu)
c.9419G>A (p.Gly3140Glu)
n.176G>A
c.9572G>A (p.Gly3191Glu)
c.8477G>A (p.Gly2826Glu)
c.4661G>A (p.Gly1554Glu)
c.4214G>A (p.Gly1405Glu)
c.3551G>A (p.Gly1184Glu)
c.8066G>A (p.Gly2689Glu)
5g.13770891C>ACA359204873DNAH5c.9463G>T (p.Gly3155Trp)
c.9418G>T (p.Gly3140Trp)
n.175G>T
c.9571G>T (p.Gly3191Trp)
c.8476G>T (p.Gly2826Trp)
c.4660G>T (p.Gly1554Trp)
c.4213G>T (p.Gly1405Trp)
c.3550G>T (p.Gly1184Trp)
c.8065G>T (p.Gly2689Trp)
 COSMIC
5g.13770891C=CA1528431227DNAH5c.9463G= (p.Gly3155=)
c.9418G= (p.Gly3140=)
n.175G=
c.9571G= (p.Gly3191=)
c.8476G= (p.Gly2826=)
c.4660G= (p.Gly1554=)
c.4213G= (p.Gly1405=)
c.3550G= (p.Gly1184=)
c.8065G= (p.Gly2689=)
5g.13770891C>GCA359204877DNAH5c.9463G>C (p.Gly3155Arg)
c.9418G>C (p.Gly3140Arg)
n.175G>C
c.9571G>C (p.Gly3191Arg)
c.8476G>C (p.Gly2826Arg)
c.4660G>C (p.Gly1554Arg)
c.4213G>C (p.Gly1405Arg)
c.3550G>C (p.Gly1184Arg)
c.8065G>C (p.Gly2689Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.13770891C>TCA359204872DNAH5c.9463G>A (p.Gly3155Arg)
c.9418G>A (p.Gly3140Arg)
n.175G>A
c.9571G>A (p.Gly3191Arg)
c.8476G>A (p.Gly2826Arg)
c.4660G>A (p.Gly1554Arg)
c.4213G>A (p.Gly1405Arg)
c.3550G>A (p.Gly1184Arg)
c.8065G>A (p.Gly2689Arg)
5g.13770892A>CCA359204879DNAH5c.9462T>G (p.Asp3154Glu)
c.9417T>G (p.Asp3139Glu)
n.174T>G
c.9570T>G (p.Asp3190Glu)
c.8475T>G (p.Asp2825Glu)
c.4659T>G (p.Asp1553Glu)
c.4212T>G (p.Asp1404Glu)
c.3549T>G (p.Asp1183Glu)
c.8064T>G (p.Asp2688Glu)
5g.13770892A>GCA443535678DNAH5c.9462T>C (p.Asp3154=)
c.9417T>C (p.Asp3139=)
n.174T>C
c.9570T>C (p.Asp3190=)
c.8475T>C (p.Asp2825=)
c.4659T>C (p.Asp1553=)
c.4212T>C (p.Asp1404=)
c.3549T>C (p.Asp1183=)
c.8064T>C (p.Asp2688=)
5g.13770892A>TCA359204880DNAH5c.9462T>A (p.Asp3154Glu)
c.9417T>A (p.Asp3139Glu)
n.174T>A
c.9570T>A (p.Asp3190Glu)
c.8475T>A (p.Asp2825Glu)
c.4659T>A (p.Asp1553Glu)
c.4212T>A (p.Asp1404Glu)
c.3549T>A (p.Asp1183Glu)
c.8064T>A (p.Asp2688Glu)
5g.13770893T>ACA359204881DNAH5c.9461A>T (p.Asp3154Val)
c.9416A>T (p.Asp3139Val)
n.173A>T
c.9569A>T (p.Asp3190Val)
c.8474A>T (p.Asp2825Val)
c.4658A>T (p.Asp1553Val)
c.4211A>T (p.Asp1404Val)
c.3548A>T (p.Asp1183Val)
c.8063A>T (p.Asp2688Val)
5g.13770893T>CCA359204882DNAH5c.9461A>G (p.Asp3154Gly)
c.9416A>G (p.Asp3139Gly)
n.173A>G
c.9569A>G (p.Asp3190Gly)
c.8474A>G (p.Asp2825Gly)
c.4658A>G (p.Asp1553Gly)
c.4211A>G (p.Asp1404Gly)
c.3548A>G (p.Asp1183Gly)
c.8063A>G (p.Asp2688Gly)
5g.13770893T>GCA3202542DNAH5c.9461A>C (p.Asp3154Ala)
c.9416A>C (p.Asp3139Ala)
n.173A>C
c.9569A>C (p.Asp3190Ala)
c.8474A>C (p.Asp2825Ala)
c.4658A>C (p.Asp1553Ala)
c.4211A>C (p.Asp1404Ala)
c.3548A>C (p.Asp1183Ala)
c.8063A>C (p.Asp2688Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13770893T=CA1528431228DNAH5c.9461A= (p.Asp3154=)
c.9416A= (p.Asp3139=)
n.173A=
c.9569A= (p.Asp3190=)
c.8474A= (p.Asp2825=)
c.4658A= (p.Asp1553=)
c.4211A= (p.Asp1404=)
c.3548A= (p.Asp1183=)
c.8063A= (p.Asp2688=)
5g.13770893_13770894insAGAAAAACCA2695204136DNAH5c.9460_9461insGTTTTTCT (p.Asp3154GlyfsTer23)
c.9415_9416insGTTTTTCT (p.Asp3139GlyfsTer23)
n.172_173insGTTTTTCT
c.9568_9569insGTTTTTCT (p.Asp3190GlyfsTer23)
c.8473_8474insGTTTTTCT (p.Asp2825GlyfsTer23)
c.4657_4658insGTTTTTCT (p.Asp1553GlyfsTer23)
c.4210_4211insGTTTTTCT (p.Asp1404GlyfsTer23)
c.3547_3548insGTTTTTCT (p.Asp1183GlyfsTer23)
c.8062_8063insGTTTTTCT (p.Asp2688GlyfsTer23)
5g.13770894C>ACA359204884DNAH5c.9460G>T (p.Asp3154Tyr)
c.9415G>T (p.Asp3139Tyr)
n.172G>T
c.9568G>T (p.Asp3190Tyr)
c.8473G>T (p.Asp2825Tyr)
c.4657G>T (p.Asp1553Tyr)
c.4210G>T (p.Asp1404Tyr)
c.3547G>T (p.Asp1183Tyr)
c.8062G>T (p.Asp2688Tyr)
5g.13770894C>GCA359204893DNAH5c.9460G>C (p.Asp3154His)
c.9415G>C (p.Asp3139His)
n.172G>C
c.9568G>C (p.Asp3190His)
c.8473G>C (p.Asp2825His)
c.4657G>C (p.Asp1553His)
c.4210G>C (p.Asp1404His)
c.3547G>C (p.Asp1183His)
c.8062G>C (p.Asp2688His)
5g.13770894C>TCA359204895DNAH5c.9460G>A (p.Asp3154Asn)
c.9415G>A (p.Asp3139Asn)
n.172G>A
c.9568G>A (p.Asp3190Asn)
c.8473G>A (p.Asp2825Asn)
c.4657G>A (p.Asp1553Asn)
c.4210G>A (p.Asp1404Asn)
c.3547G>A (p.Asp1183Asn)
c.8062G>A (p.Asp2688Asn)
 COSMIC
5g.13770895C>ACA359204899DNAH5c.9459G>T (p.Gln3153His)
c.9414G>T (p.Gln3138His)
n.171G>T
c.9567G>T (p.Gln3189His)
c.8472G>T (p.Gln2824His)
c.4656G>T (p.Gln1552His)
c.4209G>T (p.Gln1403His)
c.3546G>T (p.Gln1182His)
c.8061G>T (p.Gln2687His)
5g.13770895C=CA1528431229DNAH5c.9459G= (p.Gln3153=)
c.9414G= (p.Gln3138=)
n.171G=
c.9567G= (p.Gln3189=)
c.8472G= (p.Gln2824=)
c.4656G= (p.Gln1552=)
c.4209G= (p.Gln1403=)
c.3546G= (p.Gln1182=)
c.8061G= (p.Gln2687=)
5g.13770895C>GCA359204902DNAH5c.9459G>C (p.Gln3153His)
c.9414G>C (p.Gln3138His)
n.171G>C
c.9567G>C (p.Gln3189His)
c.8472G>C (p.Gln2824His)
c.4656G>C (p.Gln1552His)
c.4209G>C (p.Gln1403His)
c.3546G>C (p.Gln1182His)
c.8061G>C (p.Gln2687His)
5g.13770895C>TCA113933064DNAH5c.9459G>A (p.Gln3153=)
c.9414G>A (p.Gln3138=)
n.171G>A
c.9567G>A (p.Gln3189=)
c.8472G>A (p.Gln2824=)
c.4656G>A (p.Gln1552=)
c.4209G>A (p.Gln1403=)
c.3546G>A (p.Gln1182=)
c.8061G>A (p.Gln2687=)
 dbSNP
5g.13770896T>ACA359204907DNAH5c.9458A>T (p.Gln3153Leu)
c.9413A>T (p.Gln3138Leu)
n.170A>T
c.9566A>T (p.Gln3189Leu)
c.8471A>T (p.Gln2824Leu)
c.4655A>T (p.Gln1552Leu)
c.4208A>T (p.Gln1403Leu)
c.3545A>T (p.Gln1182Leu)
c.8060A>T (p.Gln2687Leu)
5g.13770896T>CCA359204908DNAH5c.9458A>G (p.Gln3153Arg)
c.9413A>G (p.Gln3138Arg)
n.170A>G
c.9566A>G (p.Gln3189Arg)
c.8471A>G (p.Gln2824Arg)
c.4655A>G (p.Gln1552Arg)
c.4208A>G (p.Gln1403Arg)
c.3545A>G (p.Gln1182Arg)
c.8060A>G (p.Gln2687Arg)
5g.13770896T>GCA359204906DNAH5c.9458A>C (p.Gln3153Pro)
c.9413A>C (p.Gln3138Pro)
n.170A>C
c.9566A>C (p.Gln3189Pro)
c.8471A>C (p.Gln2824Pro)
c.4655A>C (p.Gln1552Pro)
c.4208A>C (p.Gln1403Pro)
c.3545A>C (p.Gln1182Pro)
c.8060A>C (p.Gln2687Pro)
5g.13770897G>ACA359204909DNAH5c.9457C>T (p.Gln3153Ter)
c.9412C>T (p.Gln3138Ter)
n.169C>T
c.9565C>T (p.Gln3189Ter)
c.8470C>T (p.Gln2824Ter)
c.4654C>T (p.Gln1552Ter)
c.4207C>T (p.Gln1403Ter)
c.3544C>T (p.Gln1182Ter)
c.8059C>T (p.Gln2687Ter)
5g.13770897G>CCA359204911DNAH5c.9457C>G (p.Gln3153Glu)
c.9412C>G (p.Gln3138Glu)
n.169C>G
c.9565C>G (p.Gln3189Glu)
c.8470C>G (p.Gln2824Glu)
c.4654C>G (p.Gln1552Glu)
c.4207C>G (p.Gln1403Glu)
c.3544C>G (p.Gln1182Glu)
c.8059C>G (p.Gln2687Glu)
5g.13770897G>TCA359204912DNAH5c.9457C>A (p.Gln3153Lys)
c.9412C>A (p.Gln3138Lys)
n.169C>A
c.9565C>A (p.Gln3189Lys)
c.8470C>A (p.Gln2824Lys)
c.4654C>A (p.Gln1552Lys)
c.4207C>A (p.Gln1403Lys)
c.3544C>A (p.Gln1182Lys)
c.8059C>A (p.Gln2687Lys)
5g.13770898G>ACA443535682DNAH5c.9456C>T (p.Phe3152=)
c.9411C>T (p.Phe3137=)
n.168C>T
c.9564C>T (p.Phe3188=)
c.8469C>T (p.Phe2823=)
c.4653C>T (p.Phe1551=)
c.4206C>T (p.Phe1402=)
c.3543C>T (p.Phe1181=)
c.8058C>T (p.Phe2686=)
5g.13770898G>CCA359204915DNAH5c.9456C>G (p.Phe3152Leu)
c.9411C>G (p.Phe3137Leu)
n.168C>G
c.9564C>G (p.Phe3188Leu)
c.8469C>G (p.Phe2823Leu)
c.4653C>G (p.Phe1551Leu)
c.4206C>G (p.Phe1402Leu)
c.3543C>G (p.Phe1181Leu)
c.8058C>G (p.Phe2686Leu)
5g.13770898G>TCA359204918DNAH5c.9456C>A (p.Phe3152Leu)
c.9411C>A (p.Phe3137Leu)
n.168C>A
c.9564C>A (p.Phe3188Leu)
c.8469C>A (p.Phe2823Leu)
c.4653C>A (p.Phe1551Leu)
c.4206C>A (p.Phe1402Leu)
c.3543C>A (p.Phe1181Leu)
c.8058C>A (p.Phe2686Leu)
5g.13770899A>CCA359204931DNAH5c.9455T>G (p.Phe3152Cys)
c.9410T>G (p.Phe3137Cys)
n.167T>G
c.9563T>G (p.Phe3188Cys)
c.8468T>G (p.Phe2823Cys)
c.4652T>G (p.Phe1551Cys)
c.4205T>G (p.Phe1402Cys)
c.3542T>G (p.Phe1181Cys)
c.8057T>G (p.Phe2686Cys)
5g.13770899A>GCA359204926DNAH5c.9455T>C (p.Phe3152Ser)
c.9410T>C (p.Phe3137Ser)
n.167T>C
c.9563T>C (p.Phe3188Ser)
c.8468T>C (p.Phe2823Ser)
c.4652T>C (p.Phe1551Ser)
c.4205T>C (p.Phe1402Ser)
c.3542T>C (p.Phe1181Ser)
c.8057T>C (p.Phe2686Ser)
5g.13770899A>TCA359204928DNAH5c.9455T>A (p.Phe3152Tyr)
c.9410T>A (p.Phe3137Tyr)
n.167T>A
c.9563T>A (p.Phe3188Tyr)
c.8468T>A (p.Phe2823Tyr)
c.4652T>A (p.Phe1551Tyr)
c.4205T>A (p.Phe1402Tyr)
c.3542T>A (p.Phe1181Tyr)
c.8057T>A (p.Phe2686Tyr)
5g.13770900A>CCA359204934DNAH5c.9454T>G (p.Phe3152Val)
c.9409T>G (p.Phe3137Val)
n.166T>G
c.9562T>G (p.Phe3188Val)
c.8467T>G (p.Phe2823Val)
c.4651T>G (p.Phe1551Val)
c.4204T>G (p.Phe1402Val)
c.3541T>G (p.Phe1181Val)
c.8056T>G (p.Phe2686Val)
5g.13770900A>GCA359204937DNAH5c.9454T>C (p.Phe3152Leu)
c.9409T>C (p.Phe3137Leu)
n.166T>C
c.9562T>C (p.Phe3188Leu)
c.8467T>C (p.Phe2823Leu)
c.4651T>C (p.Phe1551Leu)
c.4204T>C (p.Phe1402Leu)
c.3541T>C (p.Phe1181Leu)
c.8056T>C (p.Phe2686Leu)
5g.13770900A>TCA359204938DNAH5c.9454T>A (p.Phe3152Ile)
c.9409T>A (p.Phe3137Ile)
n.166T>A
c.9562T>A (p.Phe3188Ile)
c.8467T>A (p.Phe2823Ile)
c.4651T>A (p.Phe1551Ile)
c.4204T>A (p.Phe1402Ile)
c.3541T>A (p.Phe1181Ile)
c.8056T>A (p.Phe2686Ile)
5g.13770901G>ACA443535687DNAH5c.9453C>T (p.Ser3151=)
c.9408C>T (p.Ser3136=)
n.165C>T
c.9561C>T (p.Ser3187=)
c.8466C>T (p.Ser2822=)
c.4650C>T (p.Ser1550=)
c.4203C>T (p.Ser1401=)
c.3540C>T (p.Ser1180=)
c.8055C>T (p.Ser2685=)
 dbSNP COSMIC
5g.13770901G>CCA443535689DNAH5c.9453C>G (p.Ser3151=)
c.9408C>G (p.Ser3136=)
n.165C>G
c.9561C>G (p.Ser3187=)
c.8466C>G (p.Ser2822=)
c.4650C>G (p.Ser1550=)
c.4203C>G (p.Ser1401=)
c.3540C>G (p.Ser1180=)
c.8055C>G (p.Ser2685=)
5g.13770901G=CA1528431230DNAH5c.9453C= (p.Ser3151=)
c.9408C= (p.Ser3136=)
n.165C=
c.9561C= (p.Ser3187=)
c.8466C= (p.Ser2822=)
c.4650C= (p.Ser1550=)
c.4203C= (p.Ser1401=)
c.3540C= (p.Ser1180=)
c.8055C= (p.Ser2685=)
5g.13770901G>TCA443535690DNAH5c.9453C>A (p.Ser3151=)
c.9408C>A (p.Ser3136=)
n.165C>A
c.9561C>A (p.Ser3187=)
c.8466C>A (p.Ser2822=)
c.4650C>A (p.Ser1550=)
c.4203C>A (p.Ser1401=)
c.3540C>A (p.Ser1180=)
c.8055C>A (p.Ser2685=)
5g.13770902G>ACA359204942DNAH5c.9452C>T (p.Ser3151Phe)
c.9407C>T (p.Ser3136Phe)
n.164C>T
c.9560C>T (p.Ser3187Phe)
c.8465C>T (p.Ser2822Phe)
c.4649C>T (p.Ser1550Phe)
c.4202C>T (p.Ser1401Phe)
c.3539C>T (p.Ser1180Phe)
c.8054C>T (p.Ser2685Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13770902G>CCA359204944DNAH5c.9452C>G (p.Ser3151Cys)
c.9407C>G (p.Ser3136Cys)
n.164C>G
c.9560C>G (p.Ser3187Cys)
c.8465C>G (p.Ser2822Cys)
c.4649C>G (p.Ser1550Cys)
c.4202C>G (p.Ser1401Cys)
c.3539C>G (p.Ser1180Cys)
c.8054C>G (p.Ser2685Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13770902G=CA1528431231DNAH5c.9452C= (p.Ser3151=)
c.9407C= (p.Ser3136=)
n.164C=
c.9560C= (p.Ser3187=)
c.8465C= (p.Ser2822=)
c.4649C= (p.Ser1550=)
c.4202C= (p.Ser1401=)
c.3539C= (p.Ser1180=)
c.8054C= (p.Ser2685=)
5g.13770902G>TCA359204951DNAH5c.9452C>A (p.Ser3151Tyr)
c.9407C>A (p.Ser3136Tyr)
n.164C>A
c.9560C>A (p.Ser3187Tyr)
c.8465C>A (p.Ser2822Tyr)
c.4649C>A (p.Ser1550Tyr)
c.4202C>A (p.Ser1401Tyr)
c.3539C>A (p.Ser1180Tyr)
c.8054C>A (p.Ser2685Tyr)
5g.13770903A=CA1528431232DNAH5c.9451T= (p.Ser3151=)
c.9406T= (p.Ser3136=)
n.163T=
c.9559T= (p.Ser3187=)
c.8464T= (p.Ser2822=)
c.4648T= (p.Ser1550=)
c.4201T= (p.Ser1401=)
c.3538T= (p.Ser1180=)
c.8053T= (p.Ser2685=)
5g.13770903A>CCA359204959DNAH5c.9451T>G (p.Ser3151Ala)
c.9406T>G (p.Ser3136Ala)
n.163T>G
c.9559T>G (p.Ser3187Ala)
c.8464T>G (p.Ser2822Ala)
c.4648T>G (p.Ser1550Ala)
c.4201T>G (p.Ser1401Ala)
c.3538T>G (p.Ser1180Ala)
c.8053T>G (p.Ser2685Ala)
5g.13770903A>GCA359204960DNAH5c.9451T>C (p.Ser3151Pro)
c.9406T>C (p.Ser3136Pro)
n.163T>C
c.9559T>C (p.Ser3187Pro)
c.8464T>C (p.Ser2822Pro)
c.4648T>C (p.Ser1550Pro)
c.4201T>C (p.Ser1401Pro)
c.3538T>C (p.Ser1180Pro)
c.8053T>C (p.Ser2685Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.13770903A>TCA359204953DNAH5c.9451T>A (p.Ser3151Thr)
c.9406T>A (p.Ser3136Thr)
n.163T>A
c.9559T>A (p.Ser3187Thr)
c.8464T>A (p.Ser2822Thr)
c.4648T>A (p.Ser1550Thr)
c.4201T>A (p.Ser1401Thr)
c.3538T>A (p.Ser1180Thr)
c.8053T>A (p.Ser2685Thr)
5g.13770904G>ACA443535692DNAH5c.9450C>T (p.Gly3150=)
c.9405C>T (p.Gly3135=)
n.162C>T
c.9558C>T (p.Gly3186=)
c.8463C>T (p.Gly2821=)
c.4647C>T (p.Gly1549=)
c.4200C>T (p.Gly1400=)
c.3537C>T (p.Gly1179=)
c.8052C>T (p.Gly2684=)
 ClinVar
5g.13770904G>CCA443535693DNAH5c.9450C>G (p.Gly3150=)
c.9405C>G (p.Gly3135=)
n.162C>G
c.9558C>G (p.Gly3186=)
c.8463C>G (p.Gly2821=)
c.4647C>G (p.Gly1549=)
c.4200C>G (p.Gly1400=)
c.3537C>G (p.Gly1179=)
c.8052C>G (p.Gly2684=)
5g.13770904G>TCA443535694DNAH5c.9450C>A (p.Gly3150=)
c.9405C>A (p.Gly3135=)
n.162C>A
c.9558C>A (p.Gly3186=)
c.8463C>A (p.Gly2821=)
c.4647C>A (p.Gly1549=)
c.4200C>A (p.Gly1400=)
c.3537C>A (p.Gly1179=)
c.8052C>A (p.Gly2684=)
 gnomAD v4
5g.13770904_13770905delinsGCCA1528431233DNAH5c.9449_9450delinsGC (p.Gly3150=)
c.9404_9405delinsGC (p.Gly3135=)
n.161_162delinsGC
c.9557_9558delinsGC (p.Gly3186=)
c.8462_8463delinsGC (p.Gly2821=)
c.4646_4647delinsGC (p.Gly1549=)
c.4199_4200delinsGC (p.Gly1400=)
c.3536_3537delinsGC (p.Gly1179=)
c.8051_8052delinsGC (p.Gly2684=)
5g.13770905C>ACA359204962DNAH5c.9449G>T (p.Gly3150Val)
c.9404G>T (p.Gly3135Val)
n.161G>T
c.9557G>T (p.Gly3186Val)
c.8462G>T (p.Gly2821Val)
c.4646G>T (p.Gly1549Val)
c.4199G>T (p.Gly1400Val)
c.3536G>T (p.Gly1179Val)
c.8051G>T (p.Gly2684Val)
5g.13770905C>GCA359204965DNAH5c.9449G>C (p.Gly3150Ala)
c.9404G>C (p.Gly3135Ala)
n.161G>C
c.9557G>C (p.Gly3186Ala)
c.8462G>C (p.Gly2821Ala)
c.4646G>C (p.Gly1549Ala)
c.4199G>C (p.Gly1400Ala)
c.3536G>C (p.Gly1179Ala)
c.8051G>C (p.Gly2684Ala)
5g.13770905C>TCA359204970DNAH5c.9449G>A (p.Gly3150Asp)
c.9404G>A (p.Gly3135Asp)
n.161G>A
c.9557G>A (p.Gly3186Asp)
c.8462G>A (p.Gly2821Asp)
c.4646G>A (p.Gly1549Asp)
c.4199G>A (p.Gly1400Asp)
c.3536G>A (p.Gly1179Asp)
c.8051G>A (p.Gly2684Asp)
5g.13770907delCA273615DNAH5c.9449del (p.Gly3150AlafsTer24)
c.9404del (p.Gly3135AlafsTer24)
n.161del
c.9557del (p.Gly3186AlafsTer24)
c.8462del (p.Gly2821AlafsTer24)
c.4646del (p.Gly1549AlafsTer24)
c.4199del (p.Gly1400AlafsTer24)
c.3536del (p.Gly1179AlafsTer24)
c.8051del (p.Gly2684AlafsTer24)
 ClinVar dbSNP
5g.13770906C>ACA359204974DNAH5c.9448G>T (p.Gly3150Cys)
c.9403G>T (p.Gly3135Cys)
n.160G>T
c.9556G>T (p.Gly3186Cys)
c.8461G>T (p.Gly2821Cys)
c.4645G>T (p.Gly1549Cys)
c.4198G>T (p.Gly1400Cys)
c.3535G>T (p.Gly1179Cys)
c.8050G>T (p.Gly2684Cys)
5g.13770906C>GCA359204977DNAH5c.9448G>C (p.Gly3150Arg)
c.9403G>C (p.Gly3135Arg)
n.160G>C
c.9556G>C (p.Gly3186Arg)
c.8461G>C (p.Gly2821Arg)
c.4645G>C (p.Gly1549Arg)
c.4198G>C (p.Gly1400Arg)
c.3535G>C (p.Gly1179Arg)
c.8050G>C (p.Gly2684Arg)
5g.13770906C>TCA359204980DNAH5c.9448G>A (p.Gly3150Ser)
c.9403G>A (p.Gly3135Ser)
n.160G>A
c.9556G>A (p.Gly3186Ser)
c.8461G>A (p.Gly2821Ser)
c.4645G>A (p.Gly1549Ser)
c.4198G>A (p.Gly1400Ser)
c.3535G>A (p.Gly1179Ser)
c.8050G>A (p.Gly2684Ser)
5g.13770907C>ACA359204981DNAH5c.9447G>T (p.Met3149Ile)
c.9402G>T (p.Met3134Ile)
n.159G>T
c.9555G>T (p.Met3185Ile)
c.8460G>T (p.Met2820Ile)
c.4644G>T (p.Met1548Ile)
c.4197G>T (p.Met1399Ile)
c.3534G>T (p.Met1178Ile)
c.8049G>T (p.Met2683Ile)
5g.13770907C>GCA359204983DNAH5c.9447G>C (p.Met3149Ile)
c.9402G>C (p.Met3134Ile)
n.159G>C
c.9555G>C (p.Met3185Ile)
c.8460G>C (p.Met2820Ile)
c.4644G>C (p.Met1548Ile)
c.4197G>C (p.Met1399Ile)
c.3534G>C (p.Met1178Ile)
c.8049G>C (p.Met2683Ile)
5g.13770907C>TCA359204985DNAH5c.9447G>A (p.Met3149Ile)
c.9402G>A (p.Met3134Ile)
n.159G>A
c.9555G>A (p.Met3185Ile)
c.8460G>A (p.Met2820Ile)
c.4644G>A (p.Met1548Ile)
c.4197G>A (p.Met1399Ile)
c.3534G>A (p.Met1178Ile)
c.8049G>A (p.Met2683Ile)
 gnomAD v4
5g.13770908A>CCA359204988DNAH5c.9446T>G (p.Met3149Arg)
c.9401T>G (p.Met3134Arg)
n.158T>G
c.9554T>G (p.Met3185Arg)
c.8459T>G (p.Met2820Arg)
c.4643T>G (p.Met1548Arg)
c.4196T>G (p.Met1399Arg)
c.3533T>G (p.Met1178Arg)
c.8048T>G (p.Met2683Arg)
5g.13770908A>GCA359204990DNAH5c.9446T>C (p.Met3149Thr)
c.9401T>C (p.Met3134Thr)
n.158T>C
c.9554T>C (p.Met3185Thr)
c.8459T>C (p.Met2820Thr)
c.4643T>C (p.Met1548Thr)
c.4196T>C (p.Met1399Thr)
c.3533T>C (p.Met1178Thr)
c.8048T>C (p.Met2683Thr)
5g.13770908A>TCA359204999DNAH5c.9446T>A (p.Met3149Lys)
c.9401T>A (p.Met3134Lys)
n.158T>A
c.9554T>A (p.Met3185Lys)
c.8459T>A (p.Met2820Lys)
c.4643T>A (p.Met1548Lys)
c.4196T>A (p.Met1399Lys)
c.3533T>A (p.Met1178Lys)
c.8048T>A (p.Met2683Lys)
5g.13770909T>ACA359205007DNAH5c.9445A>T (p.Met3149Leu)
c.9400A>T (p.Met3134Leu)
n.157A>T
c.9553A>T (p.Met3185Leu)
c.8458A>T (p.Met2820Leu)
c.4642A>T (p.Met1548Leu)
c.4195A>T (p.Met1399Leu)
c.3532A>T (p.Met1178Leu)
c.8047A>T (p.Met2683Leu)
 gnomAD v4
5g.13770909T>CCA359205005DNAH5c.9445A>G (p.Met3149Val)
c.9400A>G (p.Met3134Val)
n.157A>G
c.9553A>G (p.Met3185Val)
c.8458A>G (p.Met2820Val)
c.4642A>G (p.Met1548Val)
c.4195A>G (p.Met1399Val)
c.3532A>G (p.Met1178Val)
c.8047A>G (p.Met2683Val)
5g.13770909T>GCA359205002DNAH5c.9445A>C (p.Met3149Leu)
c.9400A>C (p.Met3134Leu)
n.157A>C
c.9553A>C (p.Met3185Leu)
c.8458A>C (p.Met2820Leu)
c.4642A>C (p.Met1548Leu)
c.4195A>C (p.Met1399Leu)
c.3532A>C (p.Met1178Leu)
c.8047A>C (p.Met2683Leu)

Number of alleles fetched