Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13792140G>ACA359219447DNAH5c.8302C>T (p.Pro2768Ser)
c.8257C>T (p.Pro2753Ser)
n.8509C>T
c.8410C>T (p.Pro2804Ser)
c.7315C>T (p.Pro2439Ser)
c.3499C>T (p.Pro1167Ser)
c.3052C>T (p.Pro1018Ser)
c.2389C>T (p.Pro797Ser)
c.6904C>T (p.Pro2302Ser)
n.8427C>T
5g.13792140G>CCA359219449DNAH5c.8302C>G (p.Pro2768Ala)
c.8257C>G (p.Pro2753Ala)
n.8509C>G
c.8410C>G (p.Pro2804Ala)
c.7315C>G (p.Pro2439Ala)
c.3499C>G (p.Pro1167Ala)
c.3052C>G (p.Pro1018Ala)
c.2389C>G (p.Pro797Ala)
c.6904C>G (p.Pro2302Ala)
n.8427C>G
5g.13792140G=CA1528440986DNAH5c.8302C= (p.Pro2768=)
c.8257C= (p.Pro2753=)
n.8509C=
c.8410C= (p.Pro2804=)
c.7315C= (p.Pro2439=)
c.3499C= (p.Pro1167=)
c.3052C= (p.Pro1018=)
c.2389C= (p.Pro797=)
c.6904C= (p.Pro2302=)
n.8427C=
5g.13792140G>TCA3202848DNAH5c.8302C>A (p.Pro2768Thr)
c.8257C>A (p.Pro2753Thr)
n.8509C>A
c.8410C>A (p.Pro2804Thr)
c.7315C>A (p.Pro2439Thr)
c.3499C>A (p.Pro1167Thr)
c.3052C>A (p.Pro1018Thr)
c.2389C>A (p.Pro797Thr)
c.6904C>A (p.Pro2302Thr)
n.8427C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792141C>ACA443263554DNAH5c.8301G>T (p.Val2767=)
c.8256G>T (p.Val2752=)
n.8508G>T
c.8409G>T (p.Val2803=)
c.7314G>T (p.Val2438=)
c.3498G>T (p.Val1166=)
c.3051G>T (p.Val1017=)
c.2388G>T (p.Val796=)
c.6903G>T (p.Val2301=)
n.8426G>T
 ClinVar
5g.13792141C>GCA443263556DNAH5c.8301G>C (p.Val2767=)
c.8256G>C (p.Val2752=)
n.8508G>C
c.8409G>C (p.Val2803=)
c.7314G>C (p.Val2438=)
c.3498G>C (p.Val1166=)
c.3051G>C (p.Val1017=)
c.2388G>C (p.Val796=)
c.6903G>C (p.Val2301=)
n.8426G>C
5g.13792141C>TCA443263557DNAH5c.8301G>A (p.Val2767=)
c.8256G>A (p.Val2752=)
n.8508G>A
c.8409G>A (p.Val2803=)
c.7314G>A (p.Val2438=)
c.3498G>A (p.Val1166=)
c.3051G>A (p.Val1017=)
c.2388G>A (p.Val796=)
c.6903G>A (p.Val2301=)
n.8426G>A
 ClinVar gnomAD v4
5g.13792142A>CCA359219453DNAH5c.8300T>G (p.Val2767Gly)
c.8255T>G (p.Val2752Gly)
n.8507T>G
c.8408T>G (p.Val2803Gly)
c.7313T>G (p.Val2438Gly)
c.3497T>G (p.Val1166Gly)
c.3050T>G (p.Val1017Gly)
c.2387T>G (p.Val796Gly)
c.6902T>G (p.Val2301Gly)
n.8425T>G
5g.13792142A>GCA359219455DNAH5c.8300T>C (p.Val2767Ala)
c.8255T>C (p.Val2752Ala)
n.8507T>C
c.8408T>C (p.Val2803Ala)
c.7313T>C (p.Val2438Ala)
c.3497T>C (p.Val1166Ala)
c.3050T>C (p.Val1017Ala)
c.2387T>C (p.Val796Ala)
c.6902T>C (p.Val2301Ala)
n.8425T>C
5g.13792142A>TCA359219456DNAH5c.8300T>A (p.Val2767Glu)
c.8255T>A (p.Val2752Glu)
n.8507T>A
c.8408T>A (p.Val2803Glu)
c.7313T>A (p.Val2438Glu)
c.3497T>A (p.Val1166Glu)
c.3050T>A (p.Val1017Glu)
c.2387T>A (p.Val796Glu)
c.6902T>A (p.Val2301Glu)
n.8425T>A
5g.13792143C>ACA359219458DNAH5c.8299G>T (p.Val2767Leu)
c.8254G>T (p.Val2752Leu)
n.8506G>T
c.8407G>T (p.Val2803Leu)
c.7312G>T (p.Val2438Leu)
c.3496G>T (p.Val1166Leu)
c.3049G>T (p.Val1017Leu)
c.2386G>T (p.Val796Leu)
c.6901G>T (p.Val2301Leu)
n.8424G>T
5g.13792143C>GCA359219459DNAH5c.8299G>C (p.Val2767Leu)
c.8254G>C (p.Val2752Leu)
n.8506G>C
c.8407G>C (p.Val2803Leu)
c.7312G>C (p.Val2438Leu)
c.3496G>C (p.Val1166Leu)
c.3049G>C (p.Val1017Leu)
c.2386G>C (p.Val796Leu)
c.6901G>C (p.Val2301Leu)
n.8424G>C
5g.13792143C>TCA359219461DNAH5c.8299G>A (p.Val2767Met)
c.8254G>A (p.Val2752Met)
n.8506G>A
c.8407G>A (p.Val2803Met)
c.7312G>A (p.Val2438Met)
c.3496G>A (p.Val1166Met)
c.3049G>A (p.Val1017Met)
c.2386G>A (p.Val796Met)
c.6901G>A (p.Val2301Met)
n.8424G>A
5g.13792144C>ACA3202849DNAH5c.8298G>T (p.Leu2766Phe)
c.8253G>T (p.Leu2751Phe)
n.8505G>T
c.8406G>T (p.Leu2802Phe)
c.7311G>T (p.Leu2437Phe)
c.3495G>T (p.Leu1165Phe)
c.3048G>T (p.Leu1016Phe)
c.2385G>T (p.Leu795Phe)
c.6900G>T (p.Leu2300Phe)
n.8423G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792144C=CA1528440987DNAH5c.8298G= (p.Leu2766=)
c.8253G= (p.Leu2751=)
n.8505G=
c.8406G= (p.Leu2802=)
c.7311G= (p.Leu2437=)
c.3495G= (p.Leu1165=)
c.3048G= (p.Leu1016=)
c.2385G= (p.Leu795=)
c.6900G= (p.Leu2300=)
n.8423G=
5g.13792144C>GCA359219477DNAH5c.8298G>C (p.Leu2766Phe)
c.8253G>C (p.Leu2751Phe)
n.8505G>C
c.8406G>C (p.Leu2802Phe)
c.7311G>C (p.Leu2437Phe)
c.3495G>C (p.Leu1165Phe)
c.3048G>C (p.Leu1016Phe)
c.2385G>C (p.Leu795Phe)
c.6900G>C (p.Leu2300Phe)
n.8423G>C
5g.13792144C>TCA443263573DNAH5c.8298G>A (p.Leu2766=)
c.8253G>A (p.Leu2751=)
n.8505G>A
c.8406G>A (p.Leu2802=)
c.7311G>A (p.Leu2437=)
c.3495G>A (p.Leu1165=)
c.3048G>A (p.Leu1016=)
c.2385G>A (p.Leu795=)
c.6900G>A (p.Leu2300=)
n.8423G>A
5g.13792145A=CA1528440988DNAH5c.8297T= (p.Leu2766=)
c.8252T= (p.Leu2751=)
n.8504T=
c.8405T= (p.Leu2802=)
c.7310T= (p.Leu2437=)
c.3494T= (p.Leu1165=)
c.3047T= (p.Leu1016=)
c.2384T= (p.Leu795=)
c.6899T= (p.Leu2300=)
n.8422T=
5g.13792145A>CCA359219481DNAH5c.8297T>G (p.Leu2766Trp)
c.8252T>G (p.Leu2751Trp)
n.8504T>G
c.8405T>G (p.Leu2802Trp)
c.7310T>G (p.Leu2437Trp)
c.3494T>G (p.Leu1165Trp)
c.3047T>G (p.Leu1016Trp)
c.2384T>G (p.Leu795Trp)
c.6899T>G (p.Leu2300Trp)
n.8422T>G
5g.13792145A>GCA359219483DNAH5c.8297T>C (p.Leu2766Ser)
c.8252T>C (p.Leu2751Ser)
n.8504T>C
c.8405T>C (p.Leu2802Ser)
c.7310T>C (p.Leu2437Ser)
c.3494T>C (p.Leu1165Ser)
c.3047T>C (p.Leu1016Ser)
c.2384T>C (p.Leu795Ser)
c.6899T>C (p.Leu2300Ser)
n.8422T>C
5g.13792145A>TCA359219480DNAH5c.8297T>A (p.Leu2766Ter)
c.8252T>A (p.Leu2751Ter)
n.8504T>A
c.8405T>A (p.Leu2802Ter)
c.7310T>A (p.Leu2437Ter)
c.3494T>A (p.Leu1165Ter)
c.3047T>A (p.Leu1016Ter)
c.2384T>A (p.Leu795Ter)
c.6899T>A (p.Leu2300Ter)
n.8422T>A
 dbSNP gnomAD v3 gnomAD v4
5g.13792146A=CA1528440989DNAH5c.8296T= (p.Leu2766=)
c.8251T= (p.Leu2751=)
n.8503T=
c.8404T= (p.Leu2802=)
c.7309T= (p.Leu2437=)
c.3493T= (p.Leu1165=)
c.3046T= (p.Leu1016=)
c.2383T= (p.Leu795=)
c.6898T= (p.Leu2300=)
n.8421T=
5g.13792146A>CCA359219485DNAH5c.8296T>G (p.Leu2766Val)
c.8251T>G (p.Leu2751Val)
n.8503T>G
c.8404T>G (p.Leu2802Val)
c.7309T>G (p.Leu2437Val)
c.3493T>G (p.Leu1165Val)
c.3046T>G (p.Leu1016Val)
c.2383T>G (p.Leu795Val)
c.6898T>G (p.Leu2300Val)
n.8421T>G
5g.13792146A>GCA3202850DNAH5c.8296T>C (p.Leu2766=)
c.8251T>C (p.Leu2751=)
n.8503T>C
c.8404T>C (p.Leu2802=)
c.7309T>C (p.Leu2437=)
c.3493T>C (p.Leu1165=)
c.3046T>C (p.Leu1016=)
c.2383T>C (p.Leu795=)
c.6898T>C (p.Leu2300=)
n.8421T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792146A>TCA359219486DNAH5c.8296T>A (p.Leu2766Met)
c.8251T>A (p.Leu2751Met)
n.8503T>A
c.8404T>A (p.Leu2802Met)
c.7309T>A (p.Leu2437Met)
c.3493T>A (p.Leu1165Met)
c.3046T>A (p.Leu1016Met)
c.2383T>A (p.Leu795Met)
c.6898T>A (p.Leu2300Met)
n.8421T>A
5g.13792147T>ACA359219487DNAH5c.8295A>T (p.Lys2765Asn)
c.8250A>T (p.Lys2750Asn)
n.8502A>T
c.8403A>T (p.Lys2801Asn)
c.7308A>T (p.Lys2436Asn)
c.3492A>T (p.Lys1164Asn)
c.3045A>T (p.Lys1015Asn)
c.2382A>T (p.Lys794Asn)
c.6897A>T (p.Lys2299Asn)
n.8420A>T
5g.13792147T>CCA443263589DNAH5c.8295A>G (p.Lys2765=)
c.8250A>G (p.Lys2750=)
n.8502A>G
c.8403A>G (p.Lys2801=)
c.7308A>G (p.Lys2436=)
c.3492A>G (p.Lys1164=)
c.3045A>G (p.Lys1015=)
c.2382A>G (p.Lys794=)
c.6897A>G (p.Lys2299=)
n.8420A>G
5g.13792147T>GCA359219488DNAH5c.8295A>C (p.Lys2765Asn)
c.8250A>C (p.Lys2750Asn)
n.8502A>C
c.8403A>C (p.Lys2801Asn)
c.7308A>C (p.Lys2436Asn)
c.3492A>C (p.Lys1164Asn)
c.3045A>C (p.Lys1015Asn)
c.2382A>C (p.Lys794Asn)
c.6897A>C (p.Lys2299Asn)
n.8420A>C
5g.13792148T>ACA359219495DNAH5c.8294A>T (p.Lys2765Ile)
c.8249A>T (p.Lys2750Ile)
n.8501A>T
c.8402A>T (p.Lys2801Ile)
c.7307A>T (p.Lys2436Ile)
c.3491A>T (p.Lys1164Ile)
c.3044A>T (p.Lys1015Ile)
c.2381A>T (p.Lys794Ile)
c.6896A>T (p.Lys2299Ile)
n.8419A>T
5g.13792148T>CCA359219494DNAH5c.8294A>G (p.Lys2765Arg)
c.8249A>G (p.Lys2750Arg)
n.8501A>G
c.8402A>G (p.Lys2801Arg)
c.7307A>G (p.Lys2436Arg)
c.3491A>G (p.Lys1164Arg)
c.3044A>G (p.Lys1015Arg)
c.2381A>G (p.Lys794Arg)
c.6896A>G (p.Lys2299Arg)
n.8419A>G
5g.13792148T>GCA359219490DNAH5c.8294A>C (p.Lys2765Thr)
c.8249A>C (p.Lys2750Thr)
n.8501A>C
c.8402A>C (p.Lys2801Thr)
c.7307A>C (p.Lys2436Thr)
c.3491A>C (p.Lys1164Thr)
c.3044A>C (p.Lys1015Thr)
c.2381A>C (p.Lys794Thr)
c.6896A>C (p.Lys2299Thr)
n.8419A>C
5g.13792149T>ACA359219497DNAH5c.8293A>T (p.Lys2765Ter)
c.8248A>T (p.Lys2750Ter)
n.8500A>T
c.8401A>T (p.Lys2801Ter)
c.7306A>T (p.Lys2436Ter)
c.3490A>T (p.Lys1164Ter)
c.3043A>T (p.Lys1015Ter)
c.2380A>T (p.Lys794Ter)
c.6895A>T (p.Lys2299Ter)
n.8418A>T
5g.13792149T>CCA359219502DNAH5c.8293A>G (p.Lys2765Glu)
c.8248A>G (p.Lys2750Glu)
n.8500A>G
c.8401A>G (p.Lys2801Glu)
c.7306A>G (p.Lys2436Glu)
c.3490A>G (p.Lys1164Glu)
c.3043A>G (p.Lys1015Glu)
c.2380A>G (p.Lys794Glu)
c.6895A>G (p.Lys2299Glu)
n.8418A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792149T>GCA359219505DNAH5c.8293A>C (p.Lys2765Gln)
c.8248A>C (p.Lys2750Gln)
n.8500A>C
c.8401A>C (p.Lys2801Gln)
c.7306A>C (p.Lys2436Gln)
c.3490A>C (p.Lys1164Gln)
c.3043A>C (p.Lys1015Gln)
c.2380A>C (p.Lys794Gln)
c.6895A>C (p.Lys2299Gln)
n.8418A>C
5g.13792149T=CA1528440990DNAH5c.8293A= (p.Lys2765=)
c.8248A= (p.Lys2750=)
n.8500A=
c.8401A= (p.Lys2801=)
c.7306A= (p.Lys2436=)
c.3490A= (p.Lys1164=)
c.3043A= (p.Lys1015=)
c.2380A= (p.Lys794=)
c.6895A= (p.Lys2299=)
n.8418A=
5g.13792149_13792151delinsTTGCA1528440991DNAH5c.8291_8293delinsCAA (p.Thr2764=)
c.8246_8248delinsCAA (p.Thr2749=)
n.8498_8500delinsCAA
c.8399_8401delinsCAA (p.Thr2800=)
c.7304_7306delinsCAA (p.Thr2435=)
c.3488_3490delinsCAA (p.Thr1163=)
c.3041_3043delinsCAA (p.Thr1014=)
c.2378_2380delinsCAA (p.Thr793=)
c.6893_6895delinsCAA (p.Thr2298=)
n.8416_8418delinsCAA
5g.13792150T>ACA443263604DNAH5c.8292A>T (p.Thr2764=)
c.8247A>T (p.Thr2749=)
n.8499A>T
c.8400A>T (p.Thr2800=)
c.7305A>T (p.Thr2435=)
c.3489A>T (p.Thr1163=)
c.3042A>T (p.Thr1014=)
c.2379A>T (p.Thr793=)
c.6894A>T (p.Thr2298=)
n.8417A>T
5g.13792150T>CCA443263606DNAH5c.8292A>G (p.Thr2764=)
c.8247A>G (p.Thr2749=)
n.8499A>G
c.8400A>G (p.Thr2800=)
c.7305A>G (p.Thr2435=)
c.3489A>G (p.Thr1163=)
c.3042A>G (p.Thr1014=)
c.2379A>G (p.Thr793=)
c.6894A>G (p.Thr2298=)
n.8417A>G
5g.13792150T>GCA443263609DNAH5c.8292A>C (p.Thr2764=)
c.8247A>C (p.Thr2749=)
n.8499A>C
c.8400A>C (p.Thr2800=)
c.7305A>C (p.Thr2435=)
c.3489A>C (p.Thr1163=)
c.3042A>C (p.Thr1014=)
c.2379A>C (p.Thr793=)
c.6894A>C (p.Thr2298=)
n.8417A>C
5g.13792151_13792152delCA917418314DNAH5c.8291_8292del (p.Thr2764LysfsTer16)
c.8246_8247del (p.Thr2749LysfsTer16)
n.8498_8499del
c.8399_8400del (p.Thr2800LysfsTer16)
c.7304_7305del (p.Thr2435LysfsTer16)
c.3488_3489del (p.Thr1163LysfsTer16)
c.3041_3042del (p.Thr1014LysfsTer16)
c.2378_2379del (p.Thr793LysfsTer16)
c.6893_6894del (p.Thr2298LysfsTer16)
n.8416_8417del
 dbSNP gnomAD v4
5g.13792151G>ACA359219507DNAH5c.8291C>T (p.Thr2764Ile)
c.8246C>T (p.Thr2749Ile)
n.8498C>T
c.8399C>T (p.Thr2800Ile)
c.7304C>T (p.Thr2435Ile)
c.3488C>T (p.Thr1163Ile)
c.3041C>T (p.Thr1014Ile)
c.2378C>T (p.Thr793Ile)
c.6893C>T (p.Thr2298Ile)
n.8416C>T
5g.13792151G>CCA359219510DNAH5c.8291C>G (p.Thr2764Arg)
c.8246C>G (p.Thr2749Arg)
n.8498C>G
c.8399C>G (p.Thr2800Arg)
c.7304C>G (p.Thr2435Arg)
c.3488C>G (p.Thr1163Arg)
c.3041C>G (p.Thr1014Arg)
c.2378C>G (p.Thr793Arg)
c.6893C>G (p.Thr2298Arg)
n.8416C>G
5g.13792151G>TCA359219512DNAH5c.8291C>A (p.Thr2764Lys)
c.8246C>A (p.Thr2749Lys)
n.8498C>A
c.8399C>A (p.Thr2800Lys)
c.7304C>A (p.Thr2435Lys)
c.3488C>A (p.Thr1163Lys)
c.3041C>A (p.Thr1014Lys)
c.2378C>A (p.Thr793Lys)
c.6893C>A (p.Thr2298Lys)
n.8416C>A
 gnomAD v4
5g.13792152T>ACA359219513DNAH5c.8290A>T (p.Thr2764Ser)
c.8245A>T (p.Thr2749Ser)
n.8497A>T
c.8398A>T (p.Thr2800Ser)
c.7303A>T (p.Thr2435Ser)
c.3487A>T (p.Thr1163Ser)
c.3040A>T (p.Thr1014Ser)
c.2377A>T (p.Thr793Ser)
c.6892A>T (p.Thr2298Ser)
n.8415A>T
5g.13792152T>CCA359219516DNAH5c.8290A>G (p.Thr2764Ala)
c.8245A>G (p.Thr2749Ala)
n.8497A>G
c.8398A>G (p.Thr2800Ala)
c.7303A>G (p.Thr2435Ala)
c.3487A>G (p.Thr1163Ala)
c.3040A>G (p.Thr1014Ala)
c.2377A>G (p.Thr793Ala)
c.6892A>G (p.Thr2298Ala)
n.8415A>G
 dbSNP gnomAD v2
5g.13792152T>GCA359219515DNAH5c.8290A>C (p.Thr2764Pro)
c.8245A>C (p.Thr2749Pro)
n.8497A>C
c.8398A>C (p.Thr2800Pro)
c.7303A>C (p.Thr2435Pro)
c.3487A>C (p.Thr1163Pro)
c.3040A>C (p.Thr1014Pro)
c.2377A>C (p.Thr793Pro)
c.6892A>C (p.Thr2298Pro)
n.8415A>C
5g.13792152T=CA1528440992DNAH5c.8290A= (p.Thr2764=)
c.8245A= (p.Thr2749=)
n.8497A=
c.8398A= (p.Thr2800=)
c.7303A= (p.Thr2435=)
c.3487A= (p.Thr1163=)
c.3040A= (p.Thr1014=)
c.2377A= (p.Thr793=)
c.6892A= (p.Thr2298=)
n.8415A=
5g.13792153C>ACA443263622DNAH5c.8289G>T (p.Val2763=)
c.8244G>T (p.Val2748=)
n.8496G>T
c.8397G>T (p.Val2799=)
c.7302G>T (p.Val2434=)
c.3486G>T (p.Val1162=)
c.3039G>T (p.Val1013=)
c.2376G>T (p.Val792=)
c.6891G>T (p.Val2297=)
n.8414G>T
5g.13792153C>GCA443263624DNAH5c.8289G>C (p.Val2763=)
c.8244G>C (p.Val2748=)
n.8496G>C
c.8397G>C (p.Val2799=)
c.7302G>C (p.Val2434=)
c.3486G>C (p.Val1162=)
c.3039G>C (p.Val1013=)
c.2376G>C (p.Val792=)
c.6891G>C (p.Val2297=)
n.8414G>C
5g.13792153C>TCA443263626DNAH5c.8289G>A (p.Val2763=)
c.8244G>A (p.Val2748=)
n.8496G>A
c.8397G>A (p.Val2799=)
c.7302G>A (p.Val2434=)
c.3486G>A (p.Val1162=)
c.3039G>A (p.Val1013=)
c.2376G>A (p.Val792=)
c.6891G>A (p.Val2297=)
n.8414G>A
5g.13792154A>CCA359219517DNAH5c.8288T>G (p.Val2763Gly)
c.8243T>G (p.Val2748Gly)
n.8495T>G
c.8396T>G (p.Val2799Gly)
c.7301T>G (p.Val2434Gly)
c.3485T>G (p.Val1162Gly)
c.3038T>G (p.Val1013Gly)
c.2375T>G (p.Val792Gly)
c.6890T>G (p.Val2297Gly)
n.8413T>G
5g.13792154A>GCA359219518DNAH5c.8288T>C (p.Val2763Ala)
c.8243T>C (p.Val2748Ala)
n.8495T>C
c.8396T>C (p.Val2799Ala)
c.7301T>C (p.Val2434Ala)
c.3485T>C (p.Val1162Ala)
c.3038T>C (p.Val1013Ala)
c.2375T>C (p.Val792Ala)
c.6890T>C (p.Val2297Ala)
n.8413T>C
5g.13792154A>TCA359219519DNAH5c.8288T>A (p.Val2763Glu)
c.8243T>A (p.Val2748Glu)
n.8495T>A
c.8396T>A (p.Val2799Glu)
c.7301T>A (p.Val2434Glu)
c.3485T>A (p.Val1162Glu)
c.3038T>A (p.Val1013Glu)
c.2375T>A (p.Val792Glu)
c.6890T>A (p.Val2297Glu)
n.8413T>A
5g.13792155C>ACA359219521DNAH5c.8287G>T (p.Val2763Leu)
c.8242G>T (p.Val2748Leu)
n.8494G>T
c.8395G>T (p.Val2799Leu)
c.7300G>T (p.Val2434Leu)
c.3484G>T (p.Val1162Leu)
c.3037G>T (p.Val1013Leu)
c.2374G>T (p.Val792Leu)
c.6889G>T (p.Val2297Leu)
n.8412G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13792155C=CA1528440993DNAH5c.8287G= (p.Val2763=)
c.8242G= (p.Val2748=)
n.8494G=
c.8395G= (p.Val2799=)
c.7300G= (p.Val2434=)
c.3484G= (p.Val1162=)
c.3037G= (p.Val1013=)
c.2374G= (p.Val792=)
c.6889G= (p.Val2297=)
n.8412G=
5g.13792155C>GCA359219523DNAH5c.8287G>C (p.Val2763Leu)
c.8242G>C (p.Val2748Leu)
n.8494G>C
c.8395G>C (p.Val2799Leu)
c.7300G>C (p.Val2434Leu)
c.3484G>C (p.Val1162Leu)
c.3037G>C (p.Val1013Leu)
c.2374G>C (p.Val792Leu)
c.6889G>C (p.Val2297Leu)
n.8412G>C
5g.13792155C>TCA359219526DNAH5c.8287G>A (p.Val2763Met)
c.8242G>A (p.Val2748Met)
n.8494G>A
c.8395G>A (p.Val2799Met)
c.7300G>A (p.Val2434Met)
c.3484G>A (p.Val1162Met)
c.3037G>A (p.Val1013Met)
c.2374G>A (p.Val792Met)
c.6889G>A (p.Val2297Met)
n.8412G>A
5g.13792156A=CA1528440995DNAH5c.8286T= (p.Ser2762=)
c.8241T= (p.Ser2747=)
n.8493T=
c.8394T= (p.Ser2798=)
c.7299T= (p.Ser2433=)
c.3483T= (p.Ser1161=)
c.3036T= (p.Ser1012=)
c.2373T= (p.Ser791=)
c.6888T= (p.Ser2296=)
n.8411T=
5g.13792156A>CCA443263639DNAH5c.8286T>G (p.Ser2762=)
c.8241T>G (p.Ser2747=)
n.8493T>G
c.8394T>G (p.Ser2798=)
c.7299T>G (p.Ser2433=)
c.3483T>G (p.Ser1161=)
c.3036T>G (p.Ser1012=)
c.2373T>G (p.Ser791=)
c.6888T>G (p.Ser2296=)
n.8411T>G
5g.13792156A>GCA443263636DNAH5c.8286T>C (p.Ser2762=)
c.8241T>C (p.Ser2747=)
n.8493T>C
c.8394T>C (p.Ser2798=)
c.7299T>C (p.Ser2433=)
c.3483T>C (p.Ser1161=)
c.3036T>C (p.Ser1012=)
c.2373T>C (p.Ser791=)
c.6888T>C (p.Ser2296=)
n.8411T>C
 ClinVar dbSNP
5g.13792156A>TCA443263634DNAH5c.8286T>A (p.Ser2762=)
c.8241T>A (p.Ser2747=)
n.8493T>A
c.8394T>A (p.Ser2798=)
c.7299T>A (p.Ser2433=)
c.3483T>A (p.Ser1161=)
c.3036T>A (p.Ser1012=)
c.2373T>A (p.Ser791=)
c.6888T>A (p.Ser2296=)
n.8411T>A
5g.13792156_13792157delinsAGCA1528440994DNAH5c.8285_8286delinsCT (p.Ser2762=)
c.8240_8241delinsCT (p.Ser2747=)
n.8492_8493delinsCT
c.8393_8394delinsCT (p.Ser2798=)
c.7298_7299delinsCT (p.Ser2433=)
c.3482_3483delinsCT (p.Ser1161=)
c.3035_3036delinsCT (p.Ser1012=)
c.2372_2373delinsCT (p.Ser791=)
c.6887_6888delinsCT (p.Ser2296=)
n.8410_8411delinsCT
5g.13792157delCA804442109DNAH5c.8285del (p.Ser2762LeufsTer2)
c.8240del (p.Ser2747LeufsTer2)
n.8492del
c.8393del (p.Ser2798LeufsTer2)
c.7298del (p.Ser2433LeufsTer2)
c.3482del (p.Ser1161LeufsTer2)
c.3035del (p.Ser1012LeufsTer2)
c.2372del (p.Ser791LeufsTer2)
c.6887del (p.Ser2296LeufsTer2)
n.8410del
 dbSNP gnomAD v3 gnomAD v4
5g.13792157G>ACA359219530DNAH5c.8285C>T (p.Ser2762Phe)
c.8240C>T (p.Ser2747Phe)
n.8492C>T
c.8393C>T (p.Ser2798Phe)
c.7298C>T (p.Ser2433Phe)
c.3482C>T (p.Ser1161Phe)
c.3035C>T (p.Ser1012Phe)
c.2372C>T (p.Ser791Phe)
c.6887C>T (p.Ser2296Phe)
n.8410C>T
 dbSNP gnomAD v3 gnomAD v4
5g.13792157G>CCA359219532DNAH5c.8285C>G (p.Ser2762Cys)
c.8240C>G (p.Ser2747Cys)
n.8492C>G
c.8393C>G (p.Ser2798Cys)
c.7298C>G (p.Ser2433Cys)
c.3482C>G (p.Ser1161Cys)
c.3035C>G (p.Ser1012Cys)
c.2372C>G (p.Ser791Cys)
c.6887C>G (p.Ser2296Cys)
n.8410C>G
5g.13792157G=CA1528440996DNAH5c.8285C= (p.Ser2762=)
c.8240C= (p.Ser2747=)
n.8492C=
c.8393C= (p.Ser2798=)
c.7298C= (p.Ser2433=)
c.3482C= (p.Ser1161=)
c.3035C= (p.Ser1012=)
c.2372C= (p.Ser791=)
c.6887C= (p.Ser2296=)
n.8410C=
5g.13792157G>TCA359219533DNAH5c.8285C>A (p.Ser2762Tyr)
c.8240C>A (p.Ser2747Tyr)
n.8492C>A
c.8393C>A (p.Ser2798Tyr)
c.7298C>A (p.Ser2433Tyr)
c.3482C>A (p.Ser1161Tyr)
c.3035C>A (p.Ser1012Tyr)
c.2372C>A (p.Ser791Tyr)
c.6887C>A (p.Ser2296Tyr)
n.8410C>A
5g.13792158A>CCA359219535DNAH5c.8284T>G (p.Ser2762Ala)
c.8239T>G (p.Ser2747Ala)
n.8491T>G
c.8392T>G (p.Ser2798Ala)
c.7297T>G (p.Ser2433Ala)
c.3481T>G (p.Ser1161Ala)
c.3034T>G (p.Ser1012Ala)
c.2371T>G (p.Ser791Ala)
c.6886T>G (p.Ser2296Ala)
n.8409T>G
5g.13792158A>GCA359219536DNAH5c.8284T>C (p.Ser2762Pro)
c.8239T>C (p.Ser2747Pro)
n.8491T>C
c.8392T>C (p.Ser2798Pro)
c.7297T>C (p.Ser2433Pro)
c.3481T>C (p.Ser1161Pro)
c.3034T>C (p.Ser1012Pro)
c.2371T>C (p.Ser791Pro)
c.6886T>C (p.Ser2296Pro)
n.8409T>C
5g.13792158A>TCA359219537DNAH5c.8284T>A (p.Ser2762Thr)
c.8239T>A (p.Ser2747Thr)
n.8491T>A
c.8392T>A (p.Ser2798Thr)
c.7297T>A (p.Ser2433Thr)
c.3481T>A (p.Ser1161Thr)
c.3034T>A (p.Ser1012Thr)
c.2371T>A (p.Ser791Thr)
c.6886T>A (p.Ser2296Thr)
n.8409T>A
5g.13792159A>CCA359219542DNAH5c.8283T>G (p.Asp2761Glu)
c.8238T>G (p.Asp2746Glu)
n.8490T>G
c.8391T>G (p.Asp2797Glu)
c.7296T>G (p.Asp2432Glu)
c.3480T>G (p.Asp1160Glu)
c.3033T>G (p.Asp1011Glu)
c.2370T>G (p.Asp790Glu)
c.6885T>G (p.Asp2295Glu)
n.8408T>G
5g.13792159A>GCA443263652DNAH5c.8283T>C (p.Asp2761=)
c.8238T>C (p.Asp2746=)
n.8490T>C
c.8391T>C (p.Asp2797=)
c.7296T>C (p.Asp2432=)
c.3480T>C (p.Asp1160=)
c.3033T>C (p.Asp1011=)
c.2370T>C (p.Asp790=)
c.6885T>C (p.Asp2295=)
n.8408T>C
 gnomAD v4
5g.13792159A>TCA359219540DNAH5c.8283T>A (p.Asp2761Glu)
c.8238T>A (p.Asp2746Glu)
n.8490T>A
c.8391T>A (p.Asp2797Glu)
c.7296T>A (p.Asp2432Glu)
c.3480T>A (p.Asp1160Glu)
c.3033T>A (p.Asp1011Glu)
c.2370T>A (p.Asp790Glu)
c.6885T>A (p.Asp2295Glu)
n.8408T>A
5g.13792160T>ACA359219543DNAH5c.8282A>T (p.Asp2761Val)
c.8237A>T (p.Asp2746Val)
n.8489A>T
c.8390A>T (p.Asp2797Val)
c.7295A>T (p.Asp2432Val)
c.3479A>T (p.Asp1160Val)
c.3032A>T (p.Asp1011Val)
c.2369A>T (p.Asp790Val)
c.6884A>T (p.Asp2295Val)
n.8407A>T
5g.13792160T>CCA359219549DNAH5c.8282A>G (p.Asp2761Gly)
c.8237A>G (p.Asp2746Gly)
n.8489A>G
c.8390A>G (p.Asp2797Gly)
c.7295A>G (p.Asp2432Gly)
c.3479A>G (p.Asp1160Gly)
c.3032A>G (p.Asp1011Gly)
c.2369A>G (p.Asp790Gly)
c.6884A>G (p.Asp2295Gly)
n.8407A>G
5g.13792160T>GCA359219546DNAH5c.8282A>C (p.Asp2761Ala)
c.8237A>C (p.Asp2746Ala)
n.8489A>C
c.8390A>C (p.Asp2797Ala)
c.7295A>C (p.Asp2432Ala)
c.3479A>C (p.Asp1160Ala)
c.3032A>C (p.Asp1011Ala)
c.2369A>C (p.Asp790Ala)
c.6884A>C (p.Asp2295Ala)
n.8407A>C
5g.13792162_13792165delCA2673271069DNAH5c.8279_8282del (p.Arg2760IlefsTer3)
c.8234_8237del (p.Arg2745IlefsTer3)
n.8486_8489del
c.8387_8390del (p.Arg2796IlefsTer3)
c.7292_7295del (p.Arg2431IlefsTer3)
c.3476_3479del (p.Arg1159IlefsTer3)
c.3029_3032del (p.Arg1010IlefsTer3)
c.2366_2369del (p.Arg789IlefsTer3)
c.6881_6884del (p.Arg2294IlefsTer3)
n.8404_8407del
 gnomAD v4
5g.13792161C>ACA359219552DNAH5c.8281G>T (p.Asp2761Tyr)
c.8236G>T (p.Asp2746Tyr)
n.8488G>T
c.8389G>T (p.Asp2797Tyr)
c.7294G>T (p.Asp2432Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3031G>T (p.Asp1011Tyr)
c.2368G>T (p.Asp790Tyr)
c.6883G>T (p.Asp2295Tyr)
n.8406G>T
 gnomAD v4 COSMIC
5g.13792161C>GCA359219557DNAH5c.8281G>C (p.Asp2761His)
c.8236G>C (p.Asp2746His)
n.8488G>C
c.8389G>C (p.Asp2797His)
c.7294G>C (p.Asp2432His)
c.3478G>C (p.Asp1160His)
c.3031G>C (p.Asp1011His)
c.2368G>C (p.Asp790His)
c.6883G>C (p.Asp2295His)
n.8406G>C
5g.13792161C>TCA359219555DNAH5c.8281G>A (p.Asp2761Asn)
c.8236G>A (p.Asp2746Asn)
n.8488G>A
c.8389G>A (p.Asp2797Asn)
c.7294G>A (p.Asp2432Asn)
c.3478G>A (p.Asp1160Asn)
c.3031G>A (p.Asp1011Asn)
c.2368G>A (p.Asp790Asn)
c.6883G>A (p.Asp2295Asn)
n.8406G>A
5g.13792162T>ACA359219560DNAH5c.8280A>T (p.Arg2760Ser)
c.8235A>T (p.Arg2745Ser)
n.8487A>T
c.8388A>T (p.Arg2796Ser)
c.7293A>T (p.Arg2431Ser)
c.3477A>T (p.Arg1159Ser)
c.3030A>T (p.Arg1010Ser)
c.2367A>T (p.Arg789Ser)
c.6882A>T (p.Arg2294Ser)
n.8405A>T
5g.13792162T>CCA443263674DNAH5c.8280A>G (p.Arg2760=)
c.8235A>G (p.Arg2745=)
n.8487A>G
c.8388A>G (p.Arg2796=)
c.7293A>G (p.Arg2431=)
c.3477A>G (p.Arg1159=)
c.3030A>G (p.Arg1010=)
c.2367A>G (p.Arg789=)
c.6882A>G (p.Arg2294=)
n.8405A>G
 COSMIC
5g.13792162T>GCA359219561DNAH5c.8280A>C (p.Arg2760Ser)
c.8235A>C (p.Arg2745Ser)
n.8487A>C
c.8388A>C (p.Arg2796Ser)
c.7293A>C (p.Arg2431Ser)
c.3477A>C (p.Arg1159Ser)
c.3030A>C (p.Arg1010Ser)
c.2367A>C (p.Arg789Ser)
c.6882A>C (p.Arg2294Ser)
n.8405A>C
5g.13792163C>ACA359219565DNAH5c.8279G>T (p.Arg2760Ile)
c.8234G>T (p.Arg2745Ile)
n.8486G>T
c.8387G>T (p.Arg2796Ile)
c.7292G>T (p.Arg2431Ile)
c.3476G>T (p.Arg1159Ile)
c.3029G>T (p.Arg1010Ile)
c.2366G>T (p.Arg789Ile)
c.6881G>T (p.Arg2294Ile)
n.8404G>T
5g.13792163C>GCA359219567DNAH5c.8279G>C (p.Arg2760Thr)
c.8234G>C (p.Arg2745Thr)
n.8486G>C
c.8387G>C (p.Arg2796Thr)
c.7292G>C (p.Arg2431Thr)
c.3476G>C (p.Arg1159Thr)
c.3029G>C (p.Arg1010Thr)
c.2366G>C (p.Arg789Thr)
c.6881G>C (p.Arg2294Thr)
n.8404G>C
5g.13792163C>TCA359219570DNAH5c.8279G>A (p.Arg2760Lys)
c.8234G>A (p.Arg2745Lys)
n.8486G>A
c.8387G>A (p.Arg2796Lys)
c.7292G>A (p.Arg2431Lys)
c.3476G>A (p.Arg1159Lys)
c.3029G>A (p.Arg1010Lys)
c.2366G>A (p.Arg789Lys)
c.6881G>A (p.Arg2294Lys)
n.8404G>A
5g.13792164T>ACA359219573DNAH5c.8278A>T (p.Arg2760Ter)
c.8233A>T (p.Arg2745Ter)
n.8485A>T
c.8386A>T (p.Arg2796Ter)
c.7291A>T (p.Arg2431Ter)
c.3475A>T (p.Arg1159Ter)
c.3028A>T (p.Arg1010Ter)
c.2365A>T (p.Arg789Ter)
c.6880A>T (p.Arg2294Ter)
n.8403A>T
5g.13792164T>CCA359219575DNAH5c.8278A>G (p.Arg2760Gly)
c.8233A>G (p.Arg2745Gly)
n.8485A>G
c.8386A>G (p.Arg2796Gly)
c.7291A>G (p.Arg2431Gly)
c.3475A>G (p.Arg1159Gly)
c.3028A>G (p.Arg1010Gly)
c.2365A>G (p.Arg789Gly)
c.6880A>G (p.Arg2294Gly)
n.8403A>G
 COSMIC
5g.13792164T>GCA443263688DNAH5c.8278A>C (p.Arg2760=)
c.8233A>C (p.Arg2745=)
n.8485A>C
c.8386A>C (p.Arg2796=)
c.7291A>C (p.Arg2431=)
c.3475A>C (p.Arg1159=)
c.3028A>C (p.Arg1010=)
c.2365A>C (p.Arg789=)
c.6880A>C (p.Arg2294=)
n.8403A>C
5g.13792165C>ACA443263691DNAH5c.8277G>T (p.Val2759=)
c.8232G>T (p.Val2744=)
n.8484G>T
c.8385G>T (p.Val2795=)
c.7290G>T (p.Val2430=)
c.3474G>T (p.Val1158=)
c.3027G>T (p.Val1009=)
c.2364G>T (p.Val788=)
c.6879G>T (p.Val2293=)
n.8402G>T
5g.13792165C>GCA443263693DNAH5c.8277G>C (p.Val2759=)
c.8232G>C (p.Val2744=)
n.8484G>C
c.8385G>C (p.Val2795=)
c.7290G>C (p.Val2430=)
c.3474G>C (p.Val1158=)
c.3027G>C (p.Val1009=)
c.2364G>C (p.Val788=)
c.6879G>C (p.Val2293=)
n.8402G>C
 ClinVar dbSNP gnomAD v4
5g.13792165C>TCA443263696DNAH5c.8277G>A (p.Val2759=)
c.8232G>A (p.Val2744=)
n.8484G>A
c.8385G>A (p.Val2795=)
c.7290G>A (p.Val2430=)
c.3474G>A (p.Val1158=)
c.3027G>A (p.Val1009=)
c.2364G>A (p.Val788=)
c.6879G>A (p.Val2293=)
n.8402G>A
 ClinVar gnomAD v4 COSMIC
5g.13792166A>CCA359219578DNAH5c.8276T>G (p.Val2759Gly)
c.8231T>G (p.Val2744Gly)
n.8483T>G
c.8384T>G (p.Val2795Gly)
c.7289T>G (p.Val2430Gly)
c.3473T>G (p.Val1158Gly)
c.3026T>G (p.Val1009Gly)
c.2363T>G (p.Val788Gly)
c.6878T>G (p.Val2293Gly)
n.8401T>G
5g.13792166A>GCA359219582DNAH5c.8276T>C (p.Val2759Ala)
c.8231T>C (p.Val2744Ala)
n.8483T>C
c.8384T>C (p.Val2795Ala)
c.7289T>C (p.Val2430Ala)
c.3473T>C (p.Val1158Ala)
c.3026T>C (p.Val1009Ala)
c.2363T>C (p.Val788Ala)
c.6878T>C (p.Val2293Ala)
n.8401T>C
5g.13792166A>TCA359219584DNAH5c.8276T>A (p.Val2759Glu)
c.8231T>A (p.Val2744Glu)
n.8483T>A
c.8384T>A (p.Val2795Glu)
c.7289T>A (p.Val2430Glu)
c.3473T>A (p.Val1158Glu)
c.3026T>A (p.Val1009Glu)
c.2363T>A (p.Val788Glu)
c.6878T>A (p.Val2293Glu)
n.8401T>A
5g.13792166_13792169delinsACTTCA1528440997DNAH5c.8273_8276delinsAAGT (p.Glu2758=)
c.8228_8231delinsAAGT (p.Glu2743=)
n.8480_8483delinsAAGT
c.8381_8384delinsAAGT (p.Glu2794=)
c.7286_7289delinsAAGT (p.Glu2429=)
c.3470_3473delinsAAGT (p.Glu1157=)
c.3023_3026delinsAAGT (p.Glu1008=)
c.2360_2363delinsAAGT (p.Glu787=)
c.6875_6878delinsAAGT (p.Glu2292=)
n.8398_8401delinsAAGT
5g.13792167C>ACA359219588DNAH5c.8275G>T (p.Val2759Leu)
c.8230G>T (p.Val2744Leu)
n.8482G>T
c.8383G>T (p.Val2795Leu)
c.7288G>T (p.Val2430Leu)
c.3472G>T (p.Val1158Leu)
c.3025G>T (p.Val1009Leu)
c.2362G>T (p.Val788Leu)
c.6877G>T (p.Val2293Leu)
n.8400G>T
 gnomAD v4 COSMIC
5g.13792167C=CA1528440998DNAH5c.8275G= (p.Val2759=)
c.8230G= (p.Val2744=)
n.8482G=
c.8383G= (p.Val2795=)
c.7288G= (p.Val2430=)
c.3472G= (p.Val1158=)
c.3025G= (p.Val1009=)
c.2362G= (p.Val788=)
c.6877G= (p.Val2293=)
n.8400G=
5g.13792167C>GCA359219590DNAH5c.8275G>C (p.Val2759Leu)
c.8230G>C (p.Val2744Leu)
n.8482G>C
c.8383G>C (p.Val2795Leu)
c.7288G>C (p.Val2430Leu)
c.3472G>C (p.Val1158Leu)
c.3025G>C (p.Val1009Leu)
c.2362G>C (p.Val788Leu)
c.6877G>C (p.Val2293Leu)
n.8400G>C
 gnomAD v4
5g.13792167C>TCA113960238DNAH5c.8275G>A (p.Val2759Met)
c.8230G>A (p.Val2744Met)
n.8482G>A
c.8383G>A (p.Val2795Met)
c.7288G>A (p.Val2430Met)
c.3472G>A (p.Val1158Met)
c.3025G>A (p.Val1009Met)
c.2362G>A (p.Val788Met)
c.6877G>A (p.Val2293Met)
n.8400G>A
 dbSNP
5g.13792172_13792174delCA557876594DNAH5c.8273_8275del (p.Glu2758del)
c.8228_8230del (p.Glu2743del)
n.8480_8482del
c.8381_8383del (p.Glu2794del)
c.7286_7288del (p.Glu2429del)
c.3470_3472del (p.Glu1157del)
c.3023_3025del (p.Glu1008del)
c.2360_2362del (p.Glu787del)
c.6875_6877del (p.Glu2292del)
n.8398_8400del
 dbSNP gnomAD v2 gnomAD v4
5g.13792168T>ACA3202851DNAH5c.8274A>T (p.Glu2758Asp)
c.8229A>T (p.Glu2743Asp)
n.8481A>T
c.8382A>T (p.Glu2794Asp)
c.7287A>T (p.Glu2429Asp)
c.3471A>T (p.Glu1157Asp)
c.3024A>T (p.Glu1008Asp)
c.2361A>T (p.Glu787Asp)
c.6876A>T (p.Glu2292Asp)
n.8399A>T
 dbSNP ExAC
5g.13792168T>CCA443263718DNAH5c.8274A>G (p.Glu2758=)
c.8229A>G (p.Glu2743=)
n.8481A>G
c.8382A>G (p.Glu2794=)
c.7287A>G (p.Glu2429=)
c.3471A>G (p.Glu1157=)
c.3024A>G (p.Glu1008=)
c.2361A>G (p.Glu787=)
c.6876A>G (p.Glu2292=)
n.8399A>G
 dbSNP
5g.13792168T>GCA359219596DNAH5c.8274A>C (p.Glu2758Asp)
c.8229A>C (p.Glu2743Asp)
n.8481A>C
c.8382A>C (p.Glu2794Asp)
c.7287A>C (p.Glu2429Asp)
c.3471A>C (p.Glu1157Asp)
c.3024A>C (p.Glu1008Asp)
c.2361A>C (p.Glu787Asp)
c.6876A>C (p.Glu2292Asp)
n.8399A>C
5g.13792168T=CA1528440999DNAH5c.8274A= (p.Glu2758=)
c.8229A= (p.Glu2743=)
n.8481A=
c.8382A= (p.Glu2794=)
c.7287A= (p.Glu2429=)
c.3471A= (p.Glu1157=)
c.3024A= (p.Glu1008=)
c.2361A= (p.Glu787=)
c.6876A= (p.Glu2292=)
n.8399A=
5g.13792169T>ACA359219601DNAH5c.8273A>T (p.Glu2758Val)
c.8228A>T (p.Glu2743Val)
n.8480A>T
c.8381A>T (p.Glu2794Val)
c.7286A>T (p.Glu2429Val)
c.3470A>T (p.Glu1157Val)
c.3023A>T (p.Glu1008Val)
c.2360A>T (p.Glu787Val)
c.6875A>T (p.Glu2292Val)
n.8398A>T
5g.13792169T>CCA359219604DNAH5c.8273A>G (p.Glu2758Gly)
c.8228A>G (p.Glu2743Gly)
n.8480A>G
c.8381A>G (p.Glu2794Gly)
c.7286A>G (p.Glu2429Gly)
c.3470A>G (p.Glu1157Gly)
c.3023A>G (p.Glu1008Gly)
c.2360A>G (p.Glu787Gly)
c.6875A>G (p.Glu2292Gly)
n.8398A>G
5g.13792169T>GCA3202852DNAH5c.8273A>C (p.Glu2758Ala)
c.8228A>C (p.Glu2743Ala)
n.8480A>C
c.8381A>C (p.Glu2794Ala)
c.7286A>C (p.Glu2429Ala)
c.3470A>C (p.Glu1157Ala)
c.3023A>C (p.Glu1008Ala)
c.2360A>C (p.Glu787Ala)
c.6875A>C (p.Glu2292Ala)
n.8398A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792169T=CA1528441000DNAH5c.8273A= (p.Glu2758=)
c.8228A= (p.Glu2743=)
n.8480A=
c.8381A= (p.Glu2794=)
c.7286A= (p.Glu2429=)
c.3470A= (p.Glu1157=)
c.3023A= (p.Glu1008=)
c.2360A= (p.Glu787=)
c.6875A= (p.Glu2292=)
n.8398A=
5g.13792170C>ACA359219616DNAH5c.8272G>T (p.Glu2758Ter)
c.8227G>T (p.Glu2743Ter)
n.8479G>T
c.8380G>T (p.Glu2794Ter)
c.7285G>T (p.Glu2429Ter)
c.3469G>T (p.Glu1157Ter)
c.3022G>T (p.Glu1008Ter)
c.2359G>T (p.Glu787Ter)
c.6874G>T (p.Glu2292Ter)
n.8397G>T
 ClinVar
5g.13792170C>GCA359219617DNAH5c.8272G>C (p.Glu2758Gln)
c.8227G>C (p.Glu2743Gln)
n.8479G>C
c.8380G>C (p.Glu2794Gln)
c.7285G>C (p.Glu2429Gln)
c.3469G>C (p.Glu1157Gln)
c.3022G>C (p.Glu1008Gln)
c.2359G>C (p.Glu787Gln)
c.6874G>C (p.Glu2292Gln)
n.8397G>C
5g.13792170C>TCA359219619DNAH5c.8272G>A (p.Glu2758Lys)
c.8227G>A (p.Glu2743Lys)
n.8479G>A
c.8380G>A (p.Glu2794Lys)
c.7285G>A (p.Glu2429Lys)
c.3469G>A (p.Glu1157Lys)
c.3022G>A (p.Glu1008Lys)
c.2359G>A (p.Glu787Lys)
c.6874G>A (p.Glu2292Lys)
n.8397G>A
5g.13792171T>ACA359219623DNAH5c.8271A>T (p.Glu2757Asp)
c.8226A>T (p.Glu2742Asp)
n.8478A>T
c.8379A>T (p.Glu2793Asp)
c.7284A>T (p.Glu2428Asp)
c.3468A>T (p.Glu1156Asp)
c.3021A>T (p.Glu1007Asp)
c.2358A>T (p.Glu786Asp)
c.6873A>T (p.Glu2291Asp)
n.8396A>T
5g.13792171T>CCA443263751DNAH5c.8271A>G (p.Glu2757=)
c.8226A>G (p.Glu2742=)
n.8478A>G
c.8379A>G (p.Glu2793=)
c.7284A>G (p.Glu2428=)
c.3468A>G (p.Glu1156=)
c.3021A>G (p.Glu1007=)
c.2358A>G (p.Glu786=)
c.6873A>G (p.Glu2291=)
n.8396A>G
 gnomAD v4
5g.13792171T>GCA359219626DNAH5c.8271A>C (p.Glu2757Asp)
c.8226A>C (p.Glu2742Asp)
n.8478A>C
c.8379A>C (p.Glu2793Asp)
c.7284A>C (p.Glu2428Asp)
c.3468A>C (p.Glu1156Asp)
c.3021A>C (p.Glu1007Asp)
c.2358A>C (p.Glu786Asp)
c.6873A>C (p.Glu2291Asp)
n.8396A>C
5g.13792172T>ACA359219629DNAH5c.8270A>T (p.Glu2757Val)
c.8225A>T (p.Glu2742Val)
n.8477A>T
c.8378A>T (p.Glu2793Val)
c.7283A>T (p.Glu2428Val)
c.3467A>T (p.Glu1156Val)
c.3020A>T (p.Glu1007Val)
c.2357A>T (p.Glu786Val)
c.6872A>T (p.Glu2291Val)
n.8395A>T
5g.13792172T>CCA359219633DNAH5c.8270A>G (p.Glu2757Gly)
c.8225A>G (p.Glu2742Gly)
n.8477A>G
c.8378A>G (p.Glu2793Gly)
c.7283A>G (p.Glu2428Gly)
c.3467A>G (p.Glu1156Gly)
c.3020A>G (p.Glu1007Gly)
c.2357A>G (p.Glu786Gly)
c.6872A>G (p.Glu2291Gly)
n.8395A>G
5g.13792172T>GCA359219634DNAH5c.8270A>C (p.Glu2757Ala)
c.8225A>C (p.Glu2742Ala)
n.8477A>C
c.8378A>C (p.Glu2793Ala)
c.7283A>C (p.Glu2428Ala)
c.3467A>C (p.Glu1156Ala)
c.3020A>C (p.Glu1007Ala)
c.2357A>C (p.Glu786Ala)
c.6872A>C (p.Glu2291Ala)
n.8395A>C
5g.13792173C>ACA359219640DNAH5c.8269G>T (p.Glu2757Ter)
c.8224G>T (p.Glu2742Ter)
n.8476G>T
c.8377G>T (p.Glu2793Ter)
c.7282G>T (p.Glu2428Ter)
c.3466G>T (p.Glu1156Ter)
c.3019G>T (p.Glu1007Ter)
c.2356G>T (p.Glu786Ter)
c.6871G>T (p.Glu2291Ter)
n.8394G>T
5g.13792173C>GCA359219641DNAH5c.8269G>C (p.Glu2757Gln)
c.8224G>C (p.Glu2742Gln)
n.8476G>C
c.8377G>C (p.Glu2793Gln)
c.7282G>C (p.Glu2428Gln)
c.3466G>C (p.Glu1156Gln)
c.3019G>C (p.Glu1007Gln)
c.2356G>C (p.Glu786Gln)
c.6871G>C (p.Glu2291Gln)
n.8394G>C
5g.13792173C>TCA359219637DNAH5c.8269G>A (p.Glu2757Lys)
c.8224G>A (p.Glu2742Lys)
n.8476G>A
c.8377G>A (p.Glu2793Lys)
c.7282G>A (p.Glu2428Lys)
c.3466G>A (p.Glu1156Lys)
c.3019G>A (p.Glu1007Lys)
c.2356G>A (p.Glu786Lys)
c.6871G>A (p.Glu2291Lys)
n.8394G>A
 COSMIC
5g.13792174T>ACA443263767DNAH5c.8268A>T (p.Ser2756=)
c.8223A>T (p.Ser2741=)
n.8475A>T
c.8376A>T (p.Ser2792=)
c.7281A>T (p.Ser2427=)
c.3465A>T (p.Ser1155=)
c.3018A>T (p.Ser1006=)
c.2355A>T (p.Ser785=)
c.6870A>T (p.Ser2290=)
n.8393A>T
5g.13792174T>CCA443263771DNAH5c.8268A>G (p.Ser2756=)
c.8223A>G (p.Ser2741=)
n.8475A>G
c.8376A>G (p.Ser2792=)
c.7281A>G (p.Ser2427=)
c.3465A>G (p.Ser1155=)
c.3018A>G (p.Ser1006=)
c.2355A>G (p.Ser785=)
c.6870A>G (p.Ser2290=)
n.8393A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792174T>GCA3202853DNAH5c.8268A>C (p.Ser2756=)
c.8223A>C (p.Ser2741=)
n.8475A>C
c.8376A>C (p.Ser2792=)
c.7281A>C (p.Ser2427=)
c.3465A>C (p.Ser1155=)
c.3018A>C (p.Ser1006=)
c.2355A>C (p.Ser785=)
c.6870A>C (p.Ser2290=)
n.8393A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792174T=CA1528441001DNAH5c.8268A= (p.Ser2756=)
c.8223A= (p.Ser2741=)
n.8475A=
c.8376A= (p.Ser2792=)
c.7281A= (p.Ser2427=)
c.3465A= (p.Ser1155=)
c.3018A= (p.Ser1006=)
c.2355A= (p.Ser785=)
c.6870A= (p.Ser2290=)
n.8393A=
5g.13792175G>ACA359219644DNAH5c.8267C>T (p.Ser2756Leu)
c.8222C>T (p.Ser2741Leu)
n.8474C>T
c.8375C>T (p.Ser2792Leu)
c.7280C>T (p.Ser2427Leu)
c.3464C>T (p.Ser1155Leu)
c.3017C>T (p.Ser1006Leu)
c.2354C>T (p.Ser785Leu)
c.6869C>T (p.Ser2290Leu)
n.8392C>T
5g.13792175G>CCA359219646DNAH5c.8267C>G (p.Ser2756Ter)
c.8222C>G (p.Ser2741Ter)
n.8474C>G
c.8375C>G (p.Ser2792Ter)
c.7280C>G (p.Ser2427Ter)
c.3464C>G (p.Ser1155Ter)
c.3017C>G (p.Ser1006Ter)
c.2354C>G (p.Ser785Ter)
c.6869C>G (p.Ser2290Ter)
n.8392C>G
5g.13792175G>TCA359219648DNAH5c.8267C>A (p.Ser2756Ter)
c.8222C>A (p.Ser2741Ter)
n.8474C>A
c.8375C>A (p.Ser2792Ter)
c.7280C>A (p.Ser2427Ter)
c.3464C>A (p.Ser1155Ter)
c.3017C>A (p.Ser1006Ter)
c.2354C>A (p.Ser785Ter)
c.6869C>A (p.Ser2290Ter)
n.8392C>A
5g.13792176A>CCA359219652DNAH5c.8266T>G (p.Ser2756Ala)
c.8221T>G (p.Ser2741Ala)
n.8473T>G
c.8374T>G (p.Ser2792Ala)
c.7279T>G (p.Ser2427Ala)
c.3463T>G (p.Ser1155Ala)
c.3016T>G (p.Ser1006Ala)
c.2353T>G (p.Ser785Ala)
c.6868T>G (p.Ser2290Ala)
n.8391T>G
5g.13792176A>GCA359219658DNAH5c.8266T>C (p.Ser2756Pro)
c.8221T>C (p.Ser2741Pro)
n.8473T>C
c.8374T>C (p.Ser2792Pro)
c.7279T>C (p.Ser2427Pro)
c.3463T>C (p.Ser1155Pro)
c.3016T>C (p.Ser1006Pro)
c.2353T>C (p.Ser785Pro)
c.6868T>C (p.Ser2290Pro)
n.8391T>C
5g.13792176A>TCA359219659DNAH5c.8266T>A (p.Ser2756Thr)
c.8221T>A (p.Ser2741Thr)
n.8473T>A
c.8374T>A (p.Ser2792Thr)
c.7279T>A (p.Ser2427Thr)
c.3463T>A (p.Ser1155Thr)
c.3016T>A (p.Ser1006Thr)
c.2353T>A (p.Ser785Thr)
c.6868T>A (p.Ser2290Thr)
n.8391T>A
5g.13792177G>ACA443264126DNAH5c.8265C>T (p.Phe2755=)
c.8220C>T (p.Phe2740=)
n.8472C>T
c.8373C>T (p.Phe2791=)
c.7278C>T (p.Phe2426=)
c.3462C>T (p.Phe1154=)
c.3015C>T (p.Phe1005=)
c.2352C>T (p.Phe784=)
c.6867C>T (p.Phe2289=)
n.8390C>T
5g.13792177G>CCA359219660DNAH5c.8265C>G (p.Phe2755Leu)
c.8220C>G (p.Phe2740Leu)
n.8472C>G
c.8373C>G (p.Phe2791Leu)
c.7278C>G (p.Phe2426Leu)
c.3462C>G (p.Phe1154Leu)
c.3015C>G (p.Phe1005Leu)
c.2352C>G (p.Phe784Leu)
c.6867C>G (p.Phe2289Leu)
n.8390C>G
5g.13792177G>TCA359219661DNAH5c.8265C>A (p.Phe2755Leu)
c.8220C>A (p.Phe2740Leu)
n.8472C>A
c.8373C>A (p.Phe2791Leu)
c.7278C>A (p.Phe2426Leu)
c.3462C>A (p.Phe1154Leu)
c.3015C>A (p.Phe1005Leu)
c.2352C>A (p.Phe784Leu)
c.6867C>A (p.Phe2289Leu)
n.8390C>A
 COSMIC
5g.13792178A>CCA359219662DNAH5c.8264T>G (p.Phe2755Cys)
c.8219T>G (p.Phe2740Cys)
n.8471T>G
c.8372T>G (p.Phe2791Cys)
c.7277T>G (p.Phe2426Cys)
c.3461T>G (p.Phe1154Cys)
c.3014T>G (p.Phe1005Cys)
c.2351T>G (p.Phe784Cys)
c.6866T>G (p.Phe2289Cys)
n.8389T>G
5g.13792178A>GCA359219663DNAH5c.8264T>C (p.Phe2755Ser)
c.8219T>C (p.Phe2740Ser)
n.8471T>C
c.8372T>C (p.Phe2791Ser)
c.7277T>C (p.Phe2426Ser)
c.3461T>C (p.Phe1154Ser)
c.3014T>C (p.Phe1005Ser)
c.2351T>C (p.Phe784Ser)
c.6866T>C (p.Phe2289Ser)
n.8389T>C
5g.13792178A>TCA359219664DNAH5c.8264T>A (p.Phe2755Tyr)
c.8219T>A (p.Phe2740Tyr)
n.8471T>A
c.8372T>A (p.Phe2791Tyr)
c.7277T>A (p.Phe2426Tyr)
c.3461T>A (p.Phe1154Tyr)
c.3014T>A (p.Phe1005Tyr)
c.2351T>A (p.Phe784Tyr)
c.6866T>A (p.Phe2289Tyr)
n.8389T>A
5g.13792179A>CCA359219669DNAH5c.8263T>G (p.Phe2755Val)
c.8218T>G (p.Phe2740Val)
n.8470T>G
c.8371T>G (p.Phe2791Val)
c.7276T>G (p.Phe2426Val)
c.3460T>G (p.Phe1154Val)
c.3013T>G (p.Phe1005Val)
c.2350T>G (p.Phe784Val)
c.6865T>G (p.Phe2289Val)
n.8388T>G
5g.13792179A>GCA359219666DNAH5c.8263T>C (p.Phe2755Leu)
c.8218T>C (p.Phe2740Leu)
n.8470T>C
c.8371T>C (p.Phe2791Leu)
c.7276T>C (p.Phe2426Leu)
c.3460T>C (p.Phe1154Leu)
c.3013T>C (p.Phe1005Leu)
c.2350T>C (p.Phe784Leu)
c.6865T>C (p.Phe2289Leu)
n.8388T>C
5g.13792179A>TCA359219668DNAH5c.8263T>A (p.Phe2755Ile)
c.8218T>A (p.Phe2740Ile)
n.8470T>A
c.8371T>A (p.Phe2791Ile)
c.7276T>A (p.Phe2426Ile)
c.3460T>A (p.Phe1154Ile)
c.3013T>A (p.Phe1005Ile)
c.2350T>A (p.Phe784Ile)
c.6865T>A (p.Phe2289Ile)
n.8388T>A
5g.13792180A=CA1528441002DNAH5c.8262T= (p.Gly2754=)
c.8217T= (p.Gly2739=)
n.8469T=
c.8370T= (p.Gly2790=)
c.7275T= (p.Gly2425=)
c.3459T= (p.Gly1153=)
c.3012T= (p.Gly1004=)
c.2349T= (p.Gly783=)
c.6864T= (p.Gly2288=)
n.8387T=
5g.13792180A>CCA443264140DNAH5c.8262T>G (p.Gly2754=)
c.8217T>G (p.Gly2739=)
n.8469T>G
c.8370T>G (p.Gly2790=)
c.7275T>G (p.Gly2425=)
c.3459T>G (p.Gly1153=)
c.3012T>G (p.Gly1004=)
c.2349T>G (p.Gly783=)
c.6864T>G (p.Gly2288=)
n.8387T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13792180A>GCA443264142DNAH5c.8262T>C (p.Gly2754=)
c.8217T>C (p.Gly2739=)
n.8469T>C
c.8370T>C (p.Gly2790=)
c.7275T>C (p.Gly2425=)
c.3459T>C (p.Gly1153=)
c.3012T>C (p.Gly1004=)
c.2349T>C (p.Gly783=)
c.6864T>C (p.Gly2288=)
n.8387T>C
5g.13792180A>TCA443264147DNAH5c.8262T>A (p.Gly2754=)
c.8217T>A (p.Gly2739=)
n.8469T>A
c.8370T>A (p.Gly2790=)
c.7275T>A (p.Gly2425=)
c.3459T>A (p.Gly1153=)
c.3012T>A (p.Gly1004=)
c.2349T>A (p.Gly783=)
c.6864T>A (p.Gly2288=)
n.8387T>A
5g.13792181C>ACA359219682DNAH5c.8261G>T (p.Gly2754Val)
c.8216G>T (p.Gly2739Val)
n.8468G>T
c.8369G>T (p.Gly2790Val)
c.7274G>T (p.Gly2425Val)
c.3458G>T (p.Gly1153Val)
c.3011G>T (p.Gly1004Val)
c.2348G>T (p.Gly783Val)
c.6863G>T (p.Gly2288Val)
n.8386G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13792181C=CA1528441003DNAH5c.8261G= (p.Gly2754=)
c.8216G= (p.Gly2739=)
n.8468G=
c.8369G= (p.Gly2790=)
c.7274G= (p.Gly2425=)
c.3458G= (p.Gly1153=)
c.3011G= (p.Gly1004=)
c.2348G= (p.Gly783=)
c.6863G= (p.Gly2288=)
n.8386G=
5g.13792181C>GCA359219685DNAH5c.8261G>C (p.Gly2754Ala)
c.8216G>C (p.Gly2739Ala)
n.8468G>C
c.8369G>C (p.Gly2790Ala)
c.7274G>C (p.Gly2425Ala)
c.3458G>C (p.Gly1153Ala)
c.3011G>C (p.Gly1004Ala)
c.2348G>C (p.Gly783Ala)
c.6863G>C (p.Gly2288Ala)
n.8386G>C
5g.13792181C>TCA3202854DNAH5c.8261G>A (p.Gly2754Asp)
c.8216G>A (p.Gly2739Asp)
n.8468G>A
c.8369G>A (p.Gly2790Asp)
c.7274G>A (p.Gly2425Asp)
c.3458G>A (p.Gly1153Asp)
c.3011G>A (p.Gly1004Asp)
c.2348G>A (p.Gly783Asp)
c.6863G>A (p.Gly2288Asp)
n.8386G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792182C>ACA359219689DNAH5c.8260G>T (p.Gly2754Cys)
c.8215G>T (p.Gly2739Cys)
n.8467G>T
c.8368G>T (p.Gly2790Cys)
c.7273G>T (p.Gly2425Cys)
c.3457G>T (p.Gly1153Cys)
c.3010G>T (p.Gly1004Cys)
c.2347G>T (p.Gly783Cys)
c.6862G>T (p.Gly2288Cys)
n.8385G>T
5g.13792182C>GCA359219692DNAH5c.8260G>C (p.Gly2754Arg)
c.8215G>C (p.Gly2739Arg)
n.8467G>C
c.8368G>C (p.Gly2790Arg)
c.7273G>C (p.Gly2425Arg)
c.3457G>C (p.Gly1153Arg)
c.3010G>C (p.Gly1004Arg)
c.2347G>C (p.Gly783Arg)
c.6862G>C (p.Gly2288Arg)
n.8385G>C
 gnomAD v4
5g.13792182C>TCA359219694DNAH5c.8260G>A (p.Gly2754Ser)
c.8215G>A (p.Gly2739Ser)
n.8467G>A
c.8368G>A (p.Gly2790Ser)
c.7273G>A (p.Gly2425Ser)
c.3457G>A (p.Gly1153Ser)
c.3010G>A (p.Gly1004Ser)
c.2347G>A (p.Gly783Ser)
c.6862G>A (p.Gly2288Ser)
n.8385G>A
5g.13792183C>ACA359219700DNAH5c.8259G>T (p.Arg2753Ser)
c.8214G>T (p.Arg2738Ser)
n.8466G>T
c.8367G>T (p.Arg2789Ser)
c.7272G>T (p.Arg2424Ser)
c.3456G>T (p.Arg1152Ser)
c.3009G>T (p.Arg1003Ser)
c.2346G>T (p.Arg782Ser)
c.6861G>T (p.Arg2287Ser)
n.8384G>T
5g.13792183C>GCA359219701DNAH5c.8259G>C (p.Arg2753Ser)
c.8214G>C (p.Arg2738Ser)
n.8466G>C
c.8367G>C (p.Arg2789Ser)
c.7272G>C (p.Arg2424Ser)
c.3456G>C (p.Arg1152Ser)
c.3009G>C (p.Arg1003Ser)
c.2346G>C (p.Arg782Ser)
c.6861G>C (p.Arg2287Ser)
n.8384G>C
5g.13792183C>TCA443264166DNAH5c.8259G>A (p.Arg2753=)
c.8214G>A (p.Arg2738=)
n.8466G>A
c.8367G>A (p.Arg2789=)
c.7272G>A (p.Arg2424=)
c.3456G>A (p.Arg1152=)
c.3009G>A (p.Arg1003=)
c.2346G>A (p.Arg782=)
c.6861G>A (p.Arg2287=)
n.8384G>A
5g.13792184C>ACA359219702DNAH5c.8258G>T (p.Arg2753Met)
c.8213G>T (p.Arg2738Met)
n.8465G>T
c.8366G>T (p.Arg2789Met)
c.7271G>T (p.Arg2424Met)
c.3455G>T (p.Arg1152Met)
c.3008G>T (p.Arg1003Met)
c.2345G>T (p.Arg782Met)
c.6860G>T (p.Arg2287Met)
n.8383G>T
5g.13792184C>GCA359219703DNAH5c.8258G>C (p.Arg2753Thr)
c.8213G>C (p.Arg2738Thr)
n.8465G>C
c.8366G>C (p.Arg2789Thr)
c.7271G>C (p.Arg2424Thr)
c.3455G>C (p.Arg1152Thr)
c.3008G>C (p.Arg1003Thr)
c.2345G>C (p.Arg782Thr)
c.6860G>C (p.Arg2287Thr)
n.8383G>C
5g.13792184C>TCA359219704DNAH5c.8258G>A (p.Arg2753Lys)
c.8213G>A (p.Arg2738Lys)
n.8465G>A
c.8366G>A (p.Arg2789Lys)
c.7271G>A (p.Arg2424Lys)
c.3455G>A (p.Arg1152Lys)
c.3008G>A (p.Arg1003Lys)
c.2345G>A (p.Arg782Lys)
c.6860G>A (p.Arg2287Lys)
n.8383G>A
 gnomAD v4
5g.13792186_13792187delCA2578270194DNAH5c.8257_8258del (p.Arg2753GlyfsTer27)
c.8212_8213del (p.Arg2738GlyfsTer27)
n.8464_8465del
c.8365_8366del (p.Arg2789GlyfsTer27)
c.7270_7271del (p.Arg2424GlyfsTer27)
c.3454_3455del (p.Arg1152GlyfsTer27)
c.3007_3008del (p.Arg1003GlyfsTer27)
c.2344_2345del (p.Arg782GlyfsTer27)
c.6859_6860del (p.Arg2287GlyfsTer27)
n.8382_8383del
5g.13792185T>ACA359219705DNAH5c.8257A>T (p.Arg2753Trp)
c.8212A>T (p.Arg2738Trp)
n.8464A>T
c.8365A>T (p.Arg2789Trp)
c.7270A>T (p.Arg2424Trp)
c.3454A>T (p.Arg1152Trp)
c.3007A>T (p.Arg1003Trp)
c.2344A>T (p.Arg782Trp)
c.6859A>T (p.Arg2287Trp)
n.8382A>T
5g.13792185T>CCA359219706DNAH5c.8257A>G (p.Arg2753Gly)
c.8212A>G (p.Arg2738Gly)
n.8464A>G
c.8365A>G (p.Arg2789Gly)
c.7270A>G (p.Arg2424Gly)
c.3454A>G (p.Arg1152Gly)
c.3007A>G (p.Arg1003Gly)
c.2344A>G (p.Arg782Gly)
c.6859A>G (p.Arg2287Gly)
n.8382A>G
 dbSNP gnomAD v3 gnomAD v4
5g.13792185T>GCA443264184DNAH5c.8257A>C (p.Arg2753=)
c.8212A>C (p.Arg2738=)
n.8464A>C
c.8365A>C (p.Arg2789=)
c.7270A>C (p.Arg2424=)
c.3454A>C (p.Arg1152=)
c.3007A>C (p.Arg1003=)
c.2344A>C (p.Arg782=)
c.6859A>C (p.Arg2287=)
n.8382A>C
5g.13792185T=CA1528441004DNAH5c.8257A= (p.Arg2753=)
c.8212A= (p.Arg2738=)
n.8464A=
c.8365A= (p.Arg2789=)
c.7270A= (p.Arg2424=)
c.3454A= (p.Arg1152=)
c.3007A= (p.Arg1003=)
c.2344A= (p.Arg782=)
c.6859A= (p.Arg2287=)
n.8382A=
5g.13792186C>ACA359219707DNAH5c.8256G>T (p.Gln2752His)
c.8211G>T (p.Gln2737His)
n.8463G>T
c.8364G>T (p.Gln2788His)
c.7269G>T (p.Gln2423His)
c.3453G>T (p.Gln1151His)
c.3006G>T (p.Gln1002His)
c.2343G>T (p.Gln781His)
c.6858G>T (p.Gln2286His)
n.8381G>T
5g.13792186C=CA1528441005DNAH5c.8256G= (p.Gln2752=)
c.8211G= (p.Gln2737=)
n.8463G=
c.8364G= (p.Gln2788=)
c.7269G= (p.Gln2423=)
c.3453G= (p.Gln1151=)
c.3006G= (p.Gln1002=)
c.2343G= (p.Gln781=)
c.6858G= (p.Gln2286=)
n.8381G=
5g.13792186C>GCA359219708DNAH5c.8256G>C (p.Gln2752His)
c.8211G>C (p.Gln2737His)
n.8463G>C
c.8364G>C (p.Gln2788His)
c.7269G>C (p.Gln2423His)
c.3453G>C (p.Gln1151His)
c.3006G>C (p.Gln1002His)
c.2343G>C (p.Gln781His)
c.6858G>C (p.Gln2286His)
n.8381G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792186C>TCA443264185DNAH5c.8256G>A (p.Gln2752=)
c.8211G>A (p.Gln2737=)
n.8463G>A
c.8364G>A (p.Gln2788=)
c.7269G>A (p.Gln2423=)
c.3453G>A (p.Gln1151=)
c.3006G>A (p.Gln1002=)
c.2343G>A (p.Gln781=)
c.6858G>A (p.Gln2286=)
n.8381G>A
5g.13792187T>ACA359219710DNAH5c.8255A>T (p.Gln2752Leu)
c.8210A>T (p.Gln2737Leu)
n.8462A>T
c.8363A>T (p.Gln2788Leu)
c.7268A>T (p.Gln2423Leu)
c.3452A>T (p.Gln1151Leu)
c.3005A>T (p.Gln1002Leu)
c.2342A>T (p.Gln781Leu)
c.6857A>T (p.Gln2286Leu)
n.8380A>T
5g.13792187T>CCA359219715DNAH5c.8255A>G (p.Gln2752Arg)
c.8210A>G (p.Gln2737Arg)
n.8462A>G
c.8363A>G (p.Gln2788Arg)
c.7268A>G (p.Gln2423Arg)
c.3452A>G (p.Gln1151Arg)
c.3005A>G (p.Gln1002Arg)
c.2342A>G (p.Gln781Arg)
c.6857A>G (p.Gln2286Arg)
n.8380A>G
 dbSNP
5g.13792187T>GCA359219713DNAH5c.8255A>C (p.Gln2752Pro)
c.8210A>C (p.Gln2737Pro)
n.8462A>C
c.8363A>C (p.Gln2788Pro)
c.7268A>C (p.Gln2423Pro)
c.3452A>C (p.Gln1151Pro)
c.3005A>C (p.Gln1002Pro)
c.2342A>C (p.Gln781Pro)
c.6857A>C (p.Gln2286Pro)
n.8380A>C
5g.13792187T=CA1528441006DNAH5c.8255A= (p.Gln2752=)
c.8210A= (p.Gln2737=)
n.8462A=
c.8363A= (p.Gln2788=)
c.7268A= (p.Gln2423=)
c.3452A= (p.Gln1151=)
c.3005A= (p.Gln1002=)
c.2342A= (p.Gln781=)
c.6857A= (p.Gln2286=)
n.8380A=
5g.13792188G>ACA359219717DNAH5c.8254C>T (p.Gln2752Ter)
c.8209C>T (p.Gln2737Ter)
n.8461C>T
c.8362C>T (p.Gln2788Ter)
c.7267C>T (p.Gln2423Ter)
c.3451C>T (p.Gln1151Ter)
c.3004C>T (p.Gln1002Ter)
c.2341C>T (p.Gln781Ter)
c.6856C>T (p.Gln2286Ter)
n.8379C>T
 dbSNP
5g.13792188G>CCA359219720DNAH5c.8254C>G (p.Gln2752Glu)
c.8209C>G (p.Gln2737Glu)
n.8461C>G
c.8362C>G (p.Gln2788Glu)
c.7267C>G (p.Gln2423Glu)
c.3451C>G (p.Gln1151Glu)
c.3004C>G (p.Gln1002Glu)
c.2341C>G (p.Gln781Glu)
c.6856C>G (p.Gln2286Glu)
n.8379C>G
 gnomAD v4
5g.13792188G=CA1528441007DNAH5c.8254C= (p.Gln2752=)
c.8209C= (p.Gln2737=)
n.8461C=
c.8362C= (p.Gln2788=)
c.7267C= (p.Gln2423=)
c.3451C= (p.Gln1151=)
c.3004C= (p.Gln1002=)
c.2341C= (p.Gln781=)
c.6856C= (p.Gln2286=)
n.8379C=
5g.13792188G>TCA359219722DNAH5c.8254C>A (p.Gln2752Lys)
c.8209C>A (p.Gln2737Lys)
n.8461C>A
c.8362C>A (p.Gln2788Lys)
c.7267C>A (p.Gln2423Lys)
c.3451C>A (p.Gln1151Lys)
c.3004C>A (p.Gln1002Lys)
c.2341C>A (p.Gln781Lys)
c.6856C>A (p.Gln2286Lys)
n.8379C>A
5g.13792189A>CCA443264200DNAH5c.8253T>G (p.Thr2751=)
c.8208T>G (p.Thr2736=)
n.8460T>G
c.8361T>G (p.Thr2787=)
c.7266T>G (p.Thr2422=)
c.3450T>G (p.Thr1150=)
c.3003T>G (p.Thr1001=)
c.2340T>G (p.Thr780=)
c.6855T>G (p.Thr2285=)
n.8378T>G
5g.13792189A>GCA443264206DNAH5c.8253T>C (p.Thr2751=)
c.8208T>C (p.Thr2736=)
n.8460T>C
c.8361T>C (p.Thr2787=)
c.7266T>C (p.Thr2422=)
c.3450T>C (p.Thr1150=)
c.3003T>C (p.Thr1001=)
c.2340T>C (p.Thr780=)
c.6855T>C (p.Thr2285=)
n.8378T>C
5g.13792189A>TCA443264209DNAH5c.8253T>A (p.Thr2751=)
c.8208T>A (p.Thr2736=)
n.8460T>A
c.8361T>A (p.Thr2787=)
c.7266T>A (p.Thr2422=)
c.3450T>A (p.Thr1150=)
c.3003T>A (p.Thr1001=)
c.2340T>A (p.Thr780=)
c.6855T>A (p.Thr2285=)
n.8378T>A
5g.13792190G>ACA359219723DNAH5c.8252C>T (p.Thr2751Ile)
c.8207C>T (p.Thr2736Ile)
n.8459C>T
c.8360C>T (p.Thr2787Ile)
c.7265C>T (p.Thr2422Ile)
c.3449C>T (p.Thr1150Ile)
c.3002C>T (p.Thr1001Ile)
c.2339C>T (p.Thr780Ile)
c.6854C>T (p.Thr2285Ile)
n.8377C>T
 gnomAD v4
5g.13792190G>CCA359219725DNAH5c.8252C>G (p.Thr2751Ser)
c.8207C>G (p.Thr2736Ser)
n.8459C>G
c.8360C>G (p.Thr2787Ser)
c.7265C>G (p.Thr2422Ser)
c.3449C>G (p.Thr1150Ser)
c.3002C>G (p.Thr1001Ser)
c.2339C>G (p.Thr780Ser)
c.6854C>G (p.Thr2285Ser)
n.8377C>G
5g.13792190G>TCA359219727DNAH5c.8252C>A (p.Thr2751Asn)
c.8207C>A (p.Thr2736Asn)
n.8459C>A
c.8360C>A (p.Thr2787Asn)
c.7265C>A (p.Thr2422Asn)
c.3449C>A (p.Thr1150Asn)
c.3002C>A (p.Thr1001Asn)
c.2339C>A (p.Thr780Asn)
c.6854C>A (p.Thr2285Asn)
n.8377C>A
5g.13792191T>ACA359219729DNAH5c.8251A>T (p.Thr2751Ser)
c.8206A>T (p.Thr2736Ser)
n.8458A>T
c.8359A>T (p.Thr2787Ser)
c.7264A>T (p.Thr2422Ser)
c.3448A>T (p.Thr1150Ser)
c.3001A>T (p.Thr1001Ser)
c.2338A>T (p.Thr780Ser)
c.6853A>T (p.Thr2285Ser)
n.8376A>T
 dbSNP
5g.13792191T>CCA359219730DNAH5c.8251A>G (p.Thr2751Ala)
c.8206A>G (p.Thr2736Ala)
n.8458A>G
c.8359A>G (p.Thr2787Ala)
c.7264A>G (p.Thr2422Ala)
c.3448A>G (p.Thr1150Ala)
c.3001A>G (p.Thr1001Ala)
c.2338A>G (p.Thr780Ala)
c.6853A>G (p.Thr2285Ala)
n.8376A>G
5g.13792191T>GCA359219731DNAH5c.8251A>C (p.Thr2751Pro)
c.8206A>C (p.Thr2736Pro)
n.8458A>C
c.8359A>C (p.Thr2787Pro)
c.7264A>C (p.Thr2422Pro)
c.3448A>C (p.Thr1150Pro)
c.3001A>C (p.Thr1001Pro)
c.2338A>C (p.Thr780Pro)
c.6853A>C (p.Thr2285Pro)
n.8376A>C
5g.13792192A>CCA359219733DNAH5c.8250T>G (p.Cys2750Trp)
c.8205T>G (p.Cys2735Trp)
n.8457T>G
c.8358T>G (p.Cys2786Trp)
c.7263T>G (p.Cys2421Trp)
c.3447T>G (p.Cys1149Trp)
c.3000T>G (p.Cys1000Trp)
c.2337T>G (p.Cys779Trp)
c.6852T>G (p.Cys2284Trp)
n.8375T>G
 gnomAD v4
5g.13792192A>GCA443264243DNAH5c.8250T>C (p.Cys2750=)
c.8205T>C (p.Cys2735=)
n.8457T>C
c.8358T>C (p.Cys2786=)
c.7263T>C (p.Cys2421=)
c.3447T>C (p.Cys1149=)
c.3000T>C (p.Cys1000=)
c.2337T>C (p.Cys779=)
c.6852T>C (p.Cys2284=)
n.8375T>C
5g.13792192A>TCA359219735DNAH5c.8250T>A (p.Cys2750Ter)
c.8205T>A (p.Cys2735Ter)
n.8457T>A
c.8358T>A (p.Cys2786Ter)
c.7263T>A (p.Cys2421Ter)
c.3447T>A (p.Cys1149Ter)
c.3000T>A (p.Cys1000Ter)
c.2337T>A (p.Cys779Ter)
c.6852T>A (p.Cys2284Ter)
n.8375T>A
 ClinVar dbSNP gnomAD v4
5g.13792193C>ACA359219739DNAH5c.8249G>T (p.Cys2750Phe)
c.8204G>T (p.Cys2735Phe)
n.8456G>T
c.8357G>T (p.Cys2786Phe)
c.7262G>T (p.Cys2421Phe)
c.3446G>T (p.Cys1149Phe)
c.2999G>T (p.Cys1000Phe)
c.2336G>T (p.Cys779Phe)
c.6851G>T (p.Cys2284Phe)
n.8374G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792193C=CA1528441008DNAH5c.8249G= (p.Cys2750=)
c.8204G= (p.Cys2735=)
n.8456G=
c.8357G= (p.Cys2786=)
c.7262G= (p.Cys2421=)
c.3446G= (p.Cys1149=)
c.2999G= (p.Cys1000=)
c.2336G= (p.Cys779=)
c.6851G= (p.Cys2284=)
n.8374G=
5g.13792193C>GCA359219737DNAH5c.8249G>C (p.Cys2750Ser)
c.8204G>C (p.Cys2735Ser)
n.8456G>C
c.8357G>C (p.Cys2786Ser)
c.7262G>C (p.Cys2421Ser)
c.3446G>C (p.Cys1149Ser)
c.2999G>C (p.Cys1000Ser)
c.2336G>C (p.Cys779Ser)
c.6851G>C (p.Cys2284Ser)
n.8374G>C
5g.13792193C>TCA359219736DNAH5c.8249G>A (p.Cys2750Tyr)
c.8204G>A (p.Cys2735Tyr)
n.8456G>A
c.8357G>A (p.Cys2786Tyr)
c.7262G>A (p.Cys2421Tyr)
c.3446G>A (p.Cys1149Tyr)
c.2999G>A (p.Cys1000Tyr)
c.2336G>A (p.Cys779Tyr)
c.6851G>A (p.Cys2284Tyr)
n.8374G>A
5g.13792194A>CCA359219742DNAH5c.8248T>G (p.Cys2750Gly)
c.8203T>G (p.Cys2735Gly)
n.8455T>G
c.8356T>G (p.Cys2786Gly)
c.7261T>G (p.Cys2421Gly)
c.3445T>G (p.Cys1149Gly)
c.2998T>G (p.Cys1000Gly)
c.2335T>G (p.Cys779Gly)
c.6850T>G (p.Cys2284Gly)
n.8373T>G
 gnomAD v4
5g.13792194A>GCA359219744DNAH5c.8248T>C (p.Cys2750Arg)
c.8203T>C (p.Cys2735Arg)
n.8455T>C
c.8356T>C (p.Cys2786Arg)
c.7261T>C (p.Cys2421Arg)
c.3445T>C (p.Cys1149Arg)
c.2998T>C (p.Cys1000Arg)
c.2335T>C (p.Cys779Arg)
c.6850T>C (p.Cys2284Arg)
n.8373T>C
5g.13792194A>TCA359219746DNAH5c.8248T>A (p.Cys2750Ser)
c.8203T>A (p.Cys2735Ser)
n.8455T>A
c.8356T>A (p.Cys2786Ser)
c.7261T>A (p.Cys2421Ser)
c.3445T>A (p.Cys1149Ser)
c.2998T>A (p.Cys1000Ser)
c.2335T>A (p.Cys779Ser)
c.6850T>A (p.Cys2284Ser)
n.8373T>A
 gnomAD v4
5g.13792195G>ACA3202855DNAH5c.8247C>T (p.Tyr2749=)
c.8202C>T (p.Tyr2734=)
n.8454C>T
c.8355C>T (p.Tyr2785=)
c.7260C>T (p.Tyr2420=)
c.3444C>T (p.Tyr1148=)
c.2997C>T (p.Tyr999=)
c.2334C>T (p.Tyr778=)
c.6849C>T (p.Tyr2283=)
n.8372C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792195G>CCA359219749DNAH5c.8247C>G (p.Tyr2749Ter)
c.8202C>G (p.Tyr2734Ter)
n.8454C>G
c.8355C>G (p.Tyr2785Ter)
c.7260C>G (p.Tyr2420Ter)
c.3444C>G (p.Tyr1148Ter)
c.2997C>G (p.Tyr999Ter)
c.2334C>G (p.Tyr778Ter)
c.6849C>G (p.Tyr2283Ter)
n.8372C>G
5g.13792195G=CA1528441009DNAH5c.8247C= (p.Tyr2749=)
c.8202C= (p.Tyr2734=)
n.8454C=
c.8355C= (p.Tyr2785=)
c.7260C= (p.Tyr2420=)
c.3444C= (p.Tyr1148=)
c.2997C= (p.Tyr999=)
c.2334C= (p.Tyr778=)
c.6849C= (p.Tyr2283=)
n.8372C=
5g.13792195G>TCA359219751DNAH5c.8247C>A (p.Tyr2749Ter)
c.8202C>A (p.Tyr2734Ter)
n.8454C>A
c.8355C>A (p.Tyr2785Ter)
c.7260C>A (p.Tyr2420Ter)
c.3444C>A (p.Tyr1148Ter)
c.2997C>A (p.Tyr999Ter)
c.2334C>A (p.Tyr778Ter)
c.6849C>A (p.Tyr2283Ter)
n.8372C>A
5g.13792196T>ACA359219753DNAH5c.8246A>T (p.Tyr2749Phe)
c.8201A>T (p.Tyr2734Phe)
n.8453A>T
c.8354A>T (p.Tyr2785Phe)
c.7259A>T (p.Tyr2420Phe)
c.3443A>T (p.Tyr1148Phe)
c.2996A>T (p.Tyr999Phe)
c.2333A>T (p.Tyr778Phe)
c.6848A>T (p.Tyr2283Phe)
n.8371A>T
5g.13792196T>CCA359219754DNAH5c.8246A>G (p.Tyr2749Cys)
c.8201A>G (p.Tyr2734Cys)
n.8453A>G
c.8354A>G (p.Tyr2785Cys)
c.7259A>G (p.Tyr2420Cys)
c.3443A>G (p.Tyr1148Cys)
c.2996A>G (p.Tyr999Cys)
c.2333A>G (p.Tyr778Cys)
c.6848A>G (p.Tyr2283Cys)
n.8371A>G
 ClinVar dbSNP gnomAD v4
5g.13792196T>GCA359219756DNAH5c.8246A>C (p.Tyr2749Ser)
c.8201A>C (p.Tyr2734Ser)
n.8453A>C
c.8354A>C (p.Tyr2785Ser)
c.7259A>C (p.Tyr2420Ser)
c.3443A>C (p.Tyr1148Ser)
c.2996A>C (p.Tyr999Ser)
c.2333A>C (p.Tyr778Ser)
c.6848A>C (p.Tyr2283Ser)
n.8371A>C
5g.13792196T=CA1528441010DNAH5c.8246A= (p.Tyr2749=)
c.8201A= (p.Tyr2734=)
n.8453A=
c.8354A= (p.Tyr2785=)
c.7259A= (p.Tyr2420=)
c.3443A= (p.Tyr1148=)
c.2996A= (p.Tyr999=)
c.2333A= (p.Tyr778=)
c.6848A= (p.Tyr2283=)
n.8371A=
5g.13792197A>CCA359219760DNAH5c.8245T>G (p.Tyr2749Asp)
c.8200T>G (p.Tyr2734Asp)
n.8452T>G
c.8353T>G (p.Tyr2785Asp)
c.7258T>G (p.Tyr2420Asp)
c.3442T>G (p.Tyr1148Asp)
c.2995T>G (p.Tyr999Asp)
c.2332T>G (p.Tyr778Asp)
c.6847T>G (p.Tyr2283Asp)
n.8370T>G
5g.13792197A>GCA359219763DNAH5c.8245T>C (p.Tyr2749His)
c.8200T>C (p.Tyr2734His)
n.8452T>C
c.8353T>C (p.Tyr2785His)
c.7258T>C (p.Tyr2420His)
c.3442T>C (p.Tyr1148His)
c.2995T>C (p.Tyr999His)
c.2332T>C (p.Tyr778His)
c.6847T>C (p.Tyr2283His)
n.8370T>C
5g.13792197A>TCA359219767DNAH5c.8245T>A (p.Tyr2749Asn)
c.8200T>A (p.Tyr2734Asn)
n.8452T>A
c.8353T>A (p.Tyr2785Asn)
c.7258T>A (p.Tyr2420Asn)
c.3442T>A (p.Tyr1148Asn)
c.2995T>A (p.Tyr999Asn)
c.2332T>A (p.Tyr778Asn)
c.6847T>A (p.Tyr2283Asn)
n.8370T>A
5g.13792198G>ACA443264262DNAH5c.8244C>T (p.His2748=)
c.8199C>T (p.His2733=)
n.8451C>T
c.8352C>T (p.His2784=)
c.7257C>T (p.His2419=)
c.3441C>T (p.His1147=)
c.2994C>T (p.His998=)
c.2331C>T (p.His777=)
c.6846C>T (p.His2282=)
n.8369C>T
 gnomAD v4
5g.13792198G>CCA359219770DNAH5c.8244C>G (p.His2748Gln)
c.8199C>G (p.His2733Gln)
n.8451C>G
c.8352C>G (p.His2784Gln)
c.7257C>G (p.His2419Gln)
c.3441C>G (p.His1147Gln)
c.2994C>G (p.His998Gln)
c.2331C>G (p.His777Gln)
c.6846C>G (p.His2282Gln)
n.8369C>G
5g.13792198G>TCA359219772DNAH5c.8244C>A (p.His2748Gln)
c.8199C>A (p.His2733Gln)
n.8451C>A
c.8352C>A (p.His2784Gln)
c.7257C>A (p.His2419Gln)
c.3441C>A (p.His1147Gln)
c.2994C>A (p.His998Gln)
c.2331C>A (p.His777Gln)
c.6846C>A (p.His2282Gln)
n.8369C>A
5g.13792199T>ACA359219777DNAH5c.8243A>T (p.His2748Leu)
c.8198A>T (p.His2733Leu)
n.8450A>T
c.8351A>T (p.His2784Leu)
c.7256A>T (p.His2419Leu)
c.3440A>T (p.His1147Leu)
c.2993A>T (p.His998Leu)
c.2330A>T (p.His777Leu)
c.6845A>T (p.His2282Leu)
n.8368A>T
5g.13792199T>CCA359219780DNAH5c.8243A>G (p.His2748Arg)
c.8198A>G (p.His2733Arg)
n.8450A>G
c.8351A>G (p.His2784Arg)
c.7256A>G (p.His2419Arg)
c.3440A>G (p.His1147Arg)
c.2993A>G (p.His998Arg)
c.2330A>G (p.His777Arg)
c.6845A>G (p.His2282Arg)
n.8368A>G
5g.13792199T>GCA359219789DNAH5c.8243A>C (p.His2748Pro)
c.8198A>C (p.His2733Pro)
n.8450A>C
c.8351A>C (p.His2784Pro)
c.7256A>C (p.His2419Pro)
c.3440A>C (p.His1147Pro)
c.2993A>C (p.His998Pro)
c.2330A>C (p.His777Pro)
c.6845A>C (p.His2282Pro)
n.8368A>C
5g.13792200G>ACA359219795DNAH5c.8242C>T (p.His2748Tyr)
c.8197C>T (p.His2733Tyr)
n.8449C>T
c.8350C>T (p.His2784Tyr)
c.7255C>T (p.His2419Tyr)
c.3439C>T (p.His1147Tyr)
c.2992C>T (p.His998Tyr)
c.2329C>T (p.His777Tyr)
c.6844C>T (p.His2282Tyr)
n.8367C>T
5g.13792200G>CCA359219797DNAH5c.8242C>G (p.His2748Asp)
c.8197C>G (p.His2733Asp)
n.8449C>G
c.8350C>G (p.His2784Asp)
c.7255C>G (p.His2419Asp)
c.3439C>G (p.His1147Asp)
c.2992C>G (p.His998Asp)
c.2329C>G (p.His777Asp)
c.6844C>G (p.His2282Asp)
n.8367C>G
5g.13792200G>TCA359219798DNAH5c.8242C>A (p.His2748Asn)
c.8197C>A (p.His2733Asn)
n.8449C>A
c.8350C>A (p.His2784Asn)
c.7255C>A (p.His2419Asn)
c.3439C>A (p.His1147Asn)
c.2992C>A (p.His998Asn)
c.2329C>A (p.His777Asn)
c.6844C>A (p.His2282Asn)
n.8367C>A
5g.13792201G>ACA443264272DNAH5c.8241C>T (p.Gly2747=)
c.8196C>T (p.Gly2732=)
n.8448C>T
c.8349C>T (p.Gly2783=)
c.7254C>T (p.Gly2418=)
c.3438C>T (p.Gly1146=)
c.2991C>T (p.Gly997=)
c.2328C>T (p.Gly776=)
c.6843C>T (p.Gly2281=)
n.8366C>T
 gnomAD v4
5g.13792201G>CCA443264275DNAH5c.8241C>G (p.Gly2747=)
c.8196C>G (p.Gly2732=)
n.8448C>G
c.8349C>G (p.Gly2783=)
c.7254C>G (p.Gly2418=)
c.3438C>G (p.Gly1146=)
c.2991C>G (p.Gly997=)
c.2328C>G (p.Gly776=)
c.6843C>G (p.Gly2281=)
n.8366C>G
5g.13792201G>TCA443264279DNAH5c.8241C>A (p.Gly2747=)
c.8196C>A (p.Gly2732=)
n.8448C>A
c.8349C>A (p.Gly2783=)
c.7254C>A (p.Gly2418=)
c.3438C>A (p.Gly1146=)
c.2991C>A (p.Gly997=)
c.2328C>A (p.Gly776=)
c.6843C>A (p.Gly2281=)
n.8366C>A
5g.13792202C>ACA359219800DNAH5c.8240G>T (p.Gly2747Val)
c.8195G>T (p.Gly2732Val)
n.8447G>T
c.8348G>T (p.Gly2783Val)
c.7253G>T (p.Gly2418Val)
c.3437G>T (p.Gly1146Val)
c.2990G>T (p.Gly997Val)
c.2327G>T (p.Gly776Val)
c.6842G>T (p.Gly2281Val)
n.8365G>T
 gnomAD v4
5g.13792202C>GCA359219811DNAH5c.8240G>C (p.Gly2747Ala)
c.8195G>C (p.Gly2732Ala)
n.8447G>C
c.8348G>C (p.Gly2783Ala)
c.7253G>C (p.Gly2418Ala)
c.3437G>C (p.Gly1146Ala)
c.2990G>C (p.Gly997Ala)
c.2327G>C (p.Gly776Ala)
c.6842G>C (p.Gly2281Ala)
n.8365G>C
5g.13792202C>TCA359219814DNAH5c.8240G>A (p.Gly2747Asp)
c.8195G>A (p.Gly2732Asp)
n.8447G>A
c.8348G>A (p.Gly2783Asp)
c.7253G>A (p.Gly2418Asp)
c.3437G>A (p.Gly1146Asp)
c.2990G>A (p.Gly997Asp)
c.2327G>A (p.Gly776Asp)
c.6842G>A (p.Gly2281Asp)
n.8365G>A
5g.13792203C>ACA359219822DNAH5c.8239G>T (p.Gly2747Cys)
c.8194G>T (p.Gly2732Cys)
n.8446G>T
c.8347G>T (p.Gly2783Cys)
c.7252G>T (p.Gly2418Cys)
c.3436G>T (p.Gly1146Cys)
c.2989G>T (p.Gly997Cys)
c.2326G>T (p.Gly776Cys)
c.6841G>T (p.Gly2281Cys)
n.8364G>T
5g.13792203C>GCA359219825DNAH5c.8239G>C (p.Gly2747Arg)
c.8194G>C (p.Gly2732Arg)
n.8446G>C
c.8347G>C (p.Gly2783Arg)
c.7252G>C (p.Gly2418Arg)
c.3436G>C (p.Gly1146Arg)
c.2989G>C (p.Gly997Arg)
c.2326G>C (p.Gly776Arg)
c.6841G>C (p.Gly2281Arg)
n.8364G>C
5g.13792203C>TCA359219826DNAH5c.8239G>A (p.Gly2747Ser)
c.8194G>A (p.Gly2732Ser)
n.8446G>A
c.8347G>A (p.Gly2783Ser)
c.7252G>A (p.Gly2418Ser)
c.3436G>A (p.Gly1146Ser)
c.2989G>A (p.Gly997Ser)
c.2326G>A (p.Gly776Ser)
c.6841G>A (p.Gly2281Ser)
n.8364G>A
 gnomAD v4
5g.13792204T>ACA443264310DNAH5c.8238A>T (p.Val2746=)
c.8193A>T (p.Val2731=)
n.8445A>T
c.8346A>T (p.Val2782=)
c.7251A>T (p.Val2417=)
c.3435A>T (p.Val1145=)
c.2988A>T (p.Val996=)
c.2325A>T (p.Val775=)
c.6840A>T (p.Val2280=)
n.8363A>T
5g.13792204T>CCA443264314DNAH5c.8238A>G (p.Val2746=)
c.8193A>G (p.Val2731=)
n.8445A>G
c.8346A>G (p.Val2782=)
c.7251A>G (p.Val2417=)
c.3435A>G (p.Val1145=)
c.2988A>G (p.Val996=)
c.2325A>G (p.Val775=)
c.6840A>G (p.Val2280=)
n.8363A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792204T>GCA443264315DNAH5c.8238A>C (p.Val2746=)
c.8193A>C (p.Val2731=)
n.8445A>C
c.8346A>C (p.Val2782=)
c.7251A>C (p.Val2417=)
c.3435A>C (p.Val1145=)
c.2988A>C (p.Val996=)
c.2325A>C (p.Val775=)
c.6840A>C (p.Val2280=)
n.8363A>C
5g.13792204T=CA1528441011DNAH5c.8238A= (p.Val2746=)
c.8193A= (p.Val2731=)
n.8445A=
c.8346A= (p.Val2782=)
c.7251A= (p.Val2417=)
c.3435A= (p.Val1145=)
c.2988A= (p.Val996=)
c.2325A= (p.Val775=)
c.6840A= (p.Val2280=)
n.8363A=
5g.13792205A>CCA359219831DNAH5c.8237T>G (p.Val2746Gly)
c.8192T>G (p.Val2731Gly)
n.8444T>G
c.8345T>G (p.Val2782Gly)
c.7250T>G (p.Val2417Gly)
c.3434T>G (p.Val1145Gly)
c.2987T>G (p.Val996Gly)
c.2324T>G (p.Val775Gly)
c.6839T>G (p.Val2280Gly)
n.8362T>G
5g.13792205A>GCA359219830DNAH5c.8237T>C (p.Val2746Ala)
c.8192T>C (p.Val2731Ala)
n.8444T>C
c.8345T>C (p.Val2782Ala)
c.7250T>C (p.Val2417Ala)
c.3434T>C (p.Val1145Ala)
c.2987T>C (p.Val996Ala)
c.2324T>C (p.Val775Ala)
c.6839T>C (p.Val2280Ala)
n.8362T>C
5g.13792205A>TCA359219828DNAH5c.8237T>A (p.Val2746Glu)
c.8192T>A (p.Val2731Glu)
n.8444T>A
c.8345T>A (p.Val2782Glu)
c.7250T>A (p.Val2417Glu)
c.3434T>A (p.Val1145Glu)
c.2987T>A (p.Val996Glu)
c.2324T>A (p.Val775Glu)
c.6839T>A (p.Val2280Glu)
n.8362T>A
5g.13792206C>ACA3202856DNAH5c.8236G>T (p.Val2746Leu)
c.8191G>T (p.Val2731Leu)
n.8443G>T
c.8344G>T (p.Val2782Leu)
c.7249G>T (p.Val2417Leu)
c.3433G>T (p.Val1145Leu)
c.2986G>T (p.Val996Leu)
c.2323G>T (p.Val775Leu)
c.6838G>T (p.Val2280Leu)
n.8361G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792206C=CA1528441012DNAH5c.8236G= (p.Val2746=)
c.8191G= (p.Val2731=)
n.8443G=
c.8344G= (p.Val2782=)
c.7249G= (p.Val2417=)
c.3433G= (p.Val1145=)
c.2986G= (p.Val996=)
c.2323G= (p.Val775=)
c.6838G= (p.Val2280=)
n.8361G=
5g.13792206C>GCA359219834DNAH5c.8236G>C (p.Val2746Leu)
c.8191G>C (p.Val2731Leu)
n.8443G>C
c.8344G>C (p.Val2782Leu)
c.7249G>C (p.Val2417Leu)
c.3433G>C (p.Val1145Leu)
c.2986G>C (p.Val996Leu)
c.2323G>C (p.Val775Leu)
c.6838G>C (p.Val2280Leu)
n.8361G>C
5g.13792206C>TCA359219835DNAH5c.8236G>A (p.Val2746Ile)
c.8191G>A (p.Val2731Ile)
n.8443G>A
c.8344G>A (p.Val2782Ile)
c.7249G>A (p.Val2417Ile)
c.3433G>A (p.Val1145Ile)
c.2986G>A (p.Val996Ile)
c.2323G>A (p.Val775Ile)
c.6838G>A (p.Val2280Ile)
n.8361G>A
5g.13792209delCA2673271070DNAH5c.8236del (p.Val2746Ter)
c.8191del (p.Val2731Ter)
n.8443del
c.8344del (p.Val2782Ter)
c.7249del (p.Val2417Ter)
c.3433del (p.Val1145Ter)
c.2986del (p.Val996Ter)
c.2323del (p.Val775Ter)
c.6838del (p.Val2280Ter)
n.8361del
 gnomAD v4
5g.13792207C>ACA443264329DNAH5c.8235G>T (p.Gly2745=)
c.8190G>T (p.Gly2730=)
n.8442G>T
c.8343G>T (p.Gly2781=)
c.7248G>T (p.Gly2416=)
c.3432G>T (p.Gly1144=)
c.2985G>T (p.Gly995=)
c.2322G>T (p.Gly774=)
c.6837G>T (p.Gly2279=)
n.8360G>T
 gnomAD v4
5g.13792207C>GCA443264339DNAH5c.8235G>C (p.Gly2745=)
c.8190G>C (p.Gly2730=)
n.8442G>C
c.8343G>C (p.Gly2781=)
c.7248G>C (p.Gly2416=)
c.3432G>C (p.Gly1144=)
c.2985G>C (p.Gly995=)
c.2322G>C (p.Gly774=)
c.6837G>C (p.Gly2279=)
n.8360G>C
5g.13792207C>TCA443264342DNAH5c.8235G>A (p.Gly2745=)
c.8190G>A (p.Gly2730=)
n.8442G>A
c.8343G>A (p.Gly2781=)
c.7248G>A (p.Gly2416=)
c.3432G>A (p.Gly1144=)
c.2985G>A (p.Gly995=)
c.2322G>A (p.Gly774=)
c.6837G>A (p.Gly2279=)
n.8360G>A
 dbSNP gnomAD v4
5g.13792208C>ACA359219836DNAH5c.8234G>T (p.Gly2745Val)
c.8189G>T (p.Gly2730Val)
n.8441G>T
c.8342G>T (p.Gly2781Val)
c.7247G>T (p.Gly2416Val)
c.3431G>T (p.Gly1144Val)
c.2984G>T (p.Gly995Val)
c.2321G>T (p.Gly774Val)
c.6836G>T (p.Gly2279Val)
n.8359G>T
 gnomAD v4
5g.13792208C>GCA359219837DNAH5c.8234G>C (p.Gly2745Ala)
c.8189G>C (p.Gly2730Ala)
n.8441G>C
c.8342G>C (p.Gly2781Ala)
c.7247G>C (p.Gly2416Ala)
c.3431G>C (p.Gly1144Ala)
c.2984G>C (p.Gly995Ala)
c.2321G>C (p.Gly774Ala)
c.6836G>C (p.Gly2279Ala)
n.8359G>C
5g.13792208C>TCA359219838DNAH5c.8234G>A (p.Gly2745Glu)
c.8189G>A (p.Gly2730Glu)
n.8441G>A
c.8342G>A (p.Gly2781Glu)
c.7247G>A (p.Gly2416Glu)
c.3431G>A (p.Gly1144Glu)
c.2984G>A (p.Gly995Glu)
c.2321G>A (p.Gly774Glu)
c.6836G>A (p.Gly2279Glu)
n.8359G>A
 COSMIC
5g.13792209C>ACA359219839DNAH5c.8233G>T (p.Gly2745Trp)
c.8188G>T (p.Gly2730Trp)
n.8440G>T
c.8341G>T (p.Gly2781Trp)
c.7246G>T (p.Gly2416Trp)
c.3430G>T (p.Gly1144Trp)
c.2983G>T (p.Gly995Trp)
c.2320G>T (p.Gly774Trp)
c.6835G>T (p.Gly2279Trp)
n.8358G>T
5g.13792209C>GCA359219840DNAH5c.8233G>C (p.Gly2745Arg)
c.8188G>C (p.Gly2730Arg)
n.8440G>C
c.8341G>C (p.Gly2781Arg)
c.7246G>C (p.Gly2416Arg)
c.3430G>C (p.Gly1144Arg)
c.2983G>C (p.Gly995Arg)
c.2320G>C (p.Gly774Arg)
c.6835G>C (p.Gly2279Arg)
n.8358G>C
5g.13792209C>TCA359219842DNAH5c.8233G>A (p.Gly2745Arg)
c.8188G>A (p.Gly2730Arg)
n.8440G>A
c.8341G>A (p.Gly2781Arg)
c.7246G>A (p.Gly2416Arg)
c.3430G>A (p.Gly1144Arg)
c.2983G>A (p.Gly995Arg)
c.2320G>A (p.Gly774Arg)
c.6835G>A (p.Gly2279Arg)
n.8358G>A
5g.13792210A>CCA359219845DNAH5c.8232T>G (p.Ile2744Met)
c.8187T>G (p.Ile2729Met)
n.8439T>G
c.8340T>G (p.Ile2780Met)
c.7245T>G (p.Ile2415Met)
c.3429T>G (p.Ile1143Met)
c.2982T>G (p.Ile994Met)
c.2319T>G (p.Ile773Met)
c.6834T>G (p.Ile2278Met)
n.8357T>G
5g.13792210A>GCA443264357DNAH5c.8232T>C (p.Ile2744=)
c.8187T>C (p.Ile2729=)
n.8439T>C
c.8340T>C (p.Ile2780=)
c.7245T>C (p.Ile2415=)
c.3429T>C (p.Ile1143=)
c.2982T>C (p.Ile994=)
c.2319T>C (p.Ile773=)
c.6834T>C (p.Ile2278=)
n.8357T>C
 gnomAD v4
5g.13792210A>TCA443264360DNAH5c.8232T>A (p.Ile2744=)
c.8187T>A (p.Ile2729=)
n.8439T>A
c.8340T>A (p.Ile2780=)
c.7245T>A (p.Ile2415=)
c.3429T>A (p.Ile1143=)
c.2982T>A (p.Ile994=)
c.2319T>A (p.Ile773=)
c.6834T>A (p.Ile2278=)
n.8357T>A
5g.13792211A>CCA359219848DNAH5c.8231T>G (p.Ile2744Ser)
c.8186T>G (p.Ile2729Ser)
n.8438T>G
c.8339T>G (p.Ile2780Ser)
c.7244T>G (p.Ile2415Ser)
c.3428T>G (p.Ile1143Ser)
c.2981T>G (p.Ile994Ser)
c.2318T>G (p.Ile773Ser)
c.6833T>G (p.Ile2278Ser)
n.8356T>G
5g.13792211A>GCA359219850DNAH5c.8231T>C (p.Ile2744Thr)
c.8186T>C (p.Ile2729Thr)
n.8438T>C
c.8339T>C (p.Ile2780Thr)
c.7244T>C (p.Ile2415Thr)
c.3428T>C (p.Ile1143Thr)
c.2981T>C (p.Ile994Thr)
c.2318T>C (p.Ile773Thr)
c.6833T>C (p.Ile2278Thr)
n.8356T>C
5g.13792211A>TCA359219853DNAH5c.8231T>A (p.Ile2744Asn)
c.8186T>A (p.Ile2729Asn)
n.8438T>A
c.8339T>A (p.Ile2780Asn)
c.7244T>A (p.Ile2415Asn)
c.3428T>A (p.Ile1143Asn)
c.2981T>A (p.Ile994Asn)
c.2318T>A (p.Ile773Asn)
c.6833T>A (p.Ile2278Asn)
n.8356T>A
5g.13792212T>ACA359219860DNAH5c.8230A>T (p.Ile2744Phe)
c.8185A>T (p.Ile2729Phe)
n.8437A>T
c.8338A>T (p.Ile2780Phe)
c.7243A>T (p.Ile2415Phe)
c.3427A>T (p.Ile1143Phe)
c.2980A>T (p.Ile994Phe)
c.2317A>T (p.Ile773Phe)
c.6832A>T (p.Ile2278Phe)
n.8355A>T
5g.13792212T>CCA359219862DNAH5c.8230A>G (p.Ile2744Val)
c.8185A>G (p.Ile2729Val)
n.8437A>G
c.8338A>G (p.Ile2780Val)
c.7243A>G (p.Ile2415Val)
c.3427A>G (p.Ile1143Val)
c.2980A>G (p.Ile994Val)
c.2317A>G (p.Ile773Val)
c.6832A>G (p.Ile2278Val)
n.8355A>G
 gnomAD v4
5g.13792212T>GCA359219855DNAH5c.8230A>C (p.Ile2744Leu)
c.8185A>C (p.Ile2729Leu)
n.8437A>C
c.8338A>C (p.Ile2780Leu)
c.7243A>C (p.Ile2415Leu)
c.3427A>C (p.Ile1143Leu)
c.2980A>C (p.Ile994Leu)
c.2317A>C (p.Ile773Leu)
c.6832A>C (p.Ile2278Leu)
n.8355A>C
5g.13792213C>ACA443264367DNAH5c.8229G>T (p.Val2743=)
c.8184G>T (p.Val2728=)
n.8436G>T
c.8337G>T (p.Val2779=)
c.7242G>T (p.Val2414=)
c.3426G>T (p.Val1142=)
c.2979G>T (p.Val993=)
c.2316G>T (p.Val772=)
c.6831G>T (p.Val2277=)
n.8354G>T
 dbSNP gnomAD v4
5g.13792213C>GCA443264369DNAH5c.8229G>C (p.Val2743=)
c.8184G>C (p.Val2728=)
n.8436G>C
c.8337G>C (p.Val2779=)
c.7242G>C (p.Val2414=)
c.3426G>C (p.Val1142=)
c.2979G>C (p.Val993=)
c.2316G>C (p.Val772=)
c.6831G>C (p.Val2277=)
n.8354G>C
5g.13792213C>TCA443264368DNAH5c.8229G>A (p.Val2743=)
c.8184G>A (p.Val2728=)
n.8436G>A
c.8337G>A (p.Val2779=)
c.7242G>A (p.Val2414=)
c.3426G>A (p.Val1142=)
c.2979G>A (p.Val993=)
c.2316G>A (p.Val772=)
c.6831G>A (p.Val2277=)
n.8354G>A
 COSMIC
5g.13792214A>CCA359219867DNAH5c.8228T>G (p.Val2743Gly)
c.8183T>G (p.Val2728Gly)
n.8435T>G
c.8336T>G (p.Val2779Gly)
c.7241T>G (p.Val2414Gly)
c.3425T>G (p.Val1142Gly)
c.2978T>G (p.Val993Gly)
c.2315T>G (p.Val772Gly)
c.6830T>G (p.Val2277Gly)
n.8353T>G
5g.13792214A>GCA359219864DNAH5c.8228T>C (p.Val2743Ala)
c.8183T>C (p.Val2728Ala)
n.8435T>C
c.8336T>C (p.Val2779Ala)
c.7241T>C (p.Val2414Ala)
c.3425T>C (p.Val1142Ala)
c.2978T>C (p.Val993Ala)
c.2315T>C (p.Val772Ala)
c.6830T>C (p.Val2277Ala)
n.8353T>C
5g.13792214A>TCA359219869DNAH5c.8228T>A (p.Val2743Glu)
c.8183T>A (p.Val2728Glu)
n.8435T>A
c.8336T>A (p.Val2779Glu)
c.7241T>A (p.Val2414Glu)
c.3425T>A (p.Val1142Glu)
c.2978T>A (p.Val993Glu)
c.2315T>A (p.Val772Glu)
c.6830T>A (p.Val2277Glu)
n.8353T>A
5g.13792215C>ACA359219872DNAH5c.8227G>T (p.Val2743Leu)
c.8182G>T (p.Val2728Leu)
n.8434G>T
c.8335G>T (p.Val2779Leu)
c.7240G>T (p.Val2414Leu)
c.3424G>T (p.Val1142Leu)
c.2977G>T (p.Val993Leu)
c.2314G>T (p.Val772Leu)
c.6829G>T (p.Val2277Leu)
n.8352G>T
5g.13792215C=CA1528441013DNAH5c.8227G= (p.Val2743=)
c.8182G= (p.Val2728=)
n.8434G=
c.8335G= (p.Val2779=)
c.7240G= (p.Val2414=)
c.3424G= (p.Val1142=)
c.2977G= (p.Val993=)
c.2314G= (p.Val772=)
c.6829G= (p.Val2277=)
n.8352G=
5g.13792215C>GCA359219875DNAH5c.8227G>C (p.Val2743Leu)
c.8182G>C (p.Val2728Leu)
n.8434G>C
c.8335G>C (p.Val2779Leu)
c.7240G>C (p.Val2414Leu)
c.3424G>C (p.Val1142Leu)
c.2977G>C (p.Val993Leu)
c.2314G>C (p.Val772Leu)
c.6829G>C (p.Val2277Leu)
n.8352G>C
5g.13792215C>TCA359219876DNAH5c.8227G>A (p.Val2743Met)
c.8182G>A (p.Val2728Met)
n.8434G>A
c.8335G>A (p.Val2779Met)
c.7240G>A (p.Val2414Met)
c.3424G>A (p.Val1142Met)
c.2977G>A (p.Val993Met)
c.2314G>A (p.Val772Met)
c.6829G>A (p.Val2277Met)
n.8352G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792216A>CCA443264388DNAH5c.8226T>G (p.Gly2742=)
c.8181T>G (p.Gly2727=)
n.8433T>G
c.8334T>G (p.Gly2778=)
c.7239T>G (p.Gly2413=)
c.3423T>G (p.Gly1141=)
c.2976T>G (p.Gly992=)
c.2313T>G (p.Gly771=)
c.6828T>G (p.Gly2276=)
n.8351T>G
5g.13792216A>GCA443264390DNAH5c.8226T>C (p.Gly2742=)
c.8181T>C (p.Gly2727=)
n.8433T>C
c.8334T>C (p.Gly2778=)
c.7239T>C (p.Gly2413=)
c.3423T>C (p.Gly1141=)
c.2976T>C (p.Gly992=)
c.2313T>C (p.Gly771=)
c.6828T>C (p.Gly2276=)
n.8351T>C
5g.13792216A>TCA443264398DNAH5c.8226T>A (p.Gly2742=)
c.8181T>A (p.Gly2727=)
n.8433T>A
c.8334T>A (p.Gly2778=)
c.7239T>A (p.Gly2413=)
c.3423T>A (p.Gly1141=)
c.2976T>A (p.Gly992=)
c.2313T>A (p.Gly771=)
c.6828T>A (p.Gly2276=)
n.8351T>A
5g.13792217C>ACA359219879DNAH5c.8225G>T (p.Gly2742Val)
c.8180G>T (p.Gly2727Val)
n.8432G>T
c.8333G>T (p.Gly2778Val)
c.7238G>T (p.Gly2413Val)
c.3422G>T (p.Gly1141Val)
c.2975G>T (p.Gly992Val)
c.2312G>T (p.Gly771Val)
c.6827G>T (p.Gly2276Val)
n.8350G>T
5g.13792217C=CA1528441014DNAH5c.8225G= (p.Gly2742=)
c.8180G= (p.Gly2727=)
n.8432G=
c.8333G= (p.Gly2778=)
c.7238G= (p.Gly2413=)
c.3422G= (p.Gly1141=)
c.2975G= (p.Gly992=)
c.2312G= (p.Gly771=)
c.6827G= (p.Gly2276=)
n.8350G=
5g.13792217C>GCA359219880DNAH5c.8225G>C (p.Gly2742Ala)
c.8180G>C (p.Gly2727Ala)
n.8432G>C
c.8333G>C (p.Gly2778Ala)
c.7238G>C (p.Gly2413Ala)
c.3422G>C (p.Gly1141Ala)
c.2975G>C (p.Gly992Ala)
c.2312G>C (p.Gly771Ala)
c.6827G>C (p.Gly2276Ala)
n.8350G>C
5g.13792217C>TCA3202857DNAH5c.8225G>A (p.Gly2742Asp)
c.8180G>A (p.Gly2727Asp)
n.8432G>A
c.8333G>A (p.Gly2778Asp)
c.7238G>A (p.Gly2413Asp)
c.3422G>A (p.Gly1141Asp)
c.2975G>A (p.Gly992Asp)
c.2312G>A (p.Gly771Asp)
c.6827G>A (p.Gly2276Asp)
n.8350G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792218C>ACA359219881DNAH5c.8225-1G>T (n.8225-1G>T)
c.8180-1G>T (n.8180-1G>T)
n.8432-1G>T
c.8333-1G>T (n.8333-1G>T)
c.7238-1G>T (n.7238-1G>T)
c.3422-1G>T (n.3422-1G>T)
c.2975-1G>T (n.2975-1G>T)
c.2312-1G>T (n.2312-1G>T)
c.6827-1G>T (n.6827-1G>T)
n.8350-1G>T
5g.13792218C>GCA359219882DNAH5c.8225-1G>C (n.8225-1G>C)
c.8180-1G>C (n.8180-1G>C)
n.8432-1G>C
c.8333-1G>C (n.8333-1G>C)
c.7238-1G>C (n.7238-1G>C)
c.3422-1G>C (n.3422-1G>C)
c.2975-1G>C (n.2975-1G>C)
c.2312-1G>C (n.2312-1G>C)
c.6827-1G>C (n.6827-1G>C)
n.8350-1G>C
5g.13792218C>TCA359219884DNAH5c.8225-1G>A (n.8225-1G>A)
c.8180-1G>A (n.8180-1G>A)
n.8432-1G>A
c.8333-1G>A (n.8333-1G>A)
c.7238-1G>A (n.7238-1G>A)
c.3422-1G>A (n.3422-1G>A)
c.2975-1G>A (n.2975-1G>A)
c.2312-1G>A (n.2312-1G>A)
c.6827-1G>A (n.6827-1G>A)
n.8350-1G>A
 ClinVar gnomAD v4
5g.13792219T>ACA359219885DNAH5c.8225-2A>T (n.8225-2A>T)
c.8180-2A>T (n.8180-2A>T)
n.8432-2A>T
c.8333-2A>T (n.8333-2A>T)
c.7238-2A>T (n.7238-2A>T)
c.3422-2A>T (n.3422-2A>T)
c.2975-2A>T (n.2975-2A>T)
c.2312-2A>T (n.2312-2A>T)
c.6827-2A>T (n.6827-2A>T)
n.8350-2A>T
5g.13792219T>CCA359219887DNAH5c.8225-2A>G (n.8225-2A>G)
c.8180-2A>G (n.8180-2A>G)
n.8432-2A>G
c.8333-2A>G (n.8333-2A>G)
c.7238-2A>G (n.7238-2A>G)
c.3422-2A>G (n.3422-2A>G)
c.2975-2A>G (n.2975-2A>G)
c.2312-2A>G (n.2312-2A>G)
c.6827-2A>G (n.6827-2A>G)
n.8350-2A>G
 ClinVar dbSNP gnomAD v4
5g.13792219T>GCA359219889DNAH5c.8225-2A>C (n.8225-2A>C)
c.8180-2A>C (n.8180-2A>C)
n.8432-2A>C
c.8333-2A>C (n.8333-2A>C)
c.7238-2A>C (n.7238-2A>C)
c.3422-2A>C (n.3422-2A>C)
c.2975-2A>C (n.2975-2A>C)
c.2312-2A>C (n.2312-2A>C)
c.6827-2A>C (n.6827-2A>C)
n.8350-2A>C
5g.13792220G>ACA443264435DNAH5c.8225-3C>T (n.8225-3C>T)
c.8180-3C>T (n.8180-3C>T)
n.8432-3C>T
c.8333-3C>T (n.8333-3C>T)
c.7238-3C>T (n.7238-3C>T)
c.3422-3C>T (n.3422-3C>T)
c.2975-3C>T (n.2975-3C>T)
c.2312-3C>T (n.2312-3C>T)
c.6827-3C>T (n.6827-3C>T)
n.8350-3C>T
 gnomAD v4 COSMIC
5g.13792220G>CCA2578270196DNAH5c.8225-3C>G (n.8225-3C>G)
c.8180-3C>G (n.8180-3C>G)
n.8432-3C>G
c.8333-3C>G (n.8333-3C>G)
c.7238-3C>G (n.7238-3C>G)
c.3422-3C>G (n.3422-3C>G)
c.2975-3C>G (n.2975-3C>G)
c.2312-3C>G (n.2312-3C>G)
c.6827-3C>G (n.6827-3C>G)
n.8350-3C>G
5g.13792221A>GCA2673271071DNAH5c.8225-4T>C (n.8225-4T>C)
c.8180-4T>C (n.8180-4T>C)
n.8432-4T>C
c.8333-4T>C (n.8333-4T>C)
c.7238-4T>C (n.7238-4T>C)
c.3422-4T>C (n.3422-4T>C)
c.2975-4T>C (n.2975-4T>C)
c.2312-4T>C (n.2312-4T>C)
c.6827-4T>C (n.6827-4T>C)
n.8350-4T>C
 gnomAD v4
5g.13792222A=CA1528441015DNAH5c.8225-5T= (n.8225-5T=)
c.8180-5T= (n.8180-5T=)
n.8432-5T=
c.8333-5T= (n.8333-5T=)
c.7238-5T= (n.7238-5T=)
c.3422-5T= (n.3422-5T=)
c.2975-5T= (n.2975-5T=)
c.2312-5T= (n.2312-5T=)
c.6827-5T= (n.6827-5T=)
n.8350-5T=
5g.13792222A>GCA557872358DNAH5c.8225-5T>C (n.8225-5T>C)
c.8180-5T>C (n.8180-5T>C)
n.8432-5T>C
c.8333-5T>C (n.8333-5T>C)
c.7238-5T>C (n.7238-5T>C)
c.3422-5T>C (n.3422-5T>C)
c.2975-5T>C (n.2975-5T>C)
c.2312-5T>C (n.2312-5T>C)
c.6827-5T>C (n.6827-5T>C)
n.8350-5T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13792223A=CA1528441016DNAH5c.8225-6T= (n.8225-6T=)
c.8180-6T= (n.8180-6T=)
n.8432-6T=
c.8333-6T= (n.8333-6T=)
c.7238-6T= (n.7238-6T=)
c.3422-6T= (n.3422-6T=)
c.2975-6T= (n.2975-6T=)
c.2312-6T= (n.2312-6T=)
c.6827-6T= (n.6827-6T=)
n.8350-6T=
5g.13792223A>CCA113960263DNAH5c.8225-6T>G (n.8225-6T>G)
c.8180-6T>G (n.8180-6T>G)
n.8432-6T>G
c.8333-6T>G (n.8333-6T>G)
c.7238-6T>G (n.7238-6T>G)
c.3422-6T>G (n.3422-6T>G)
c.2975-6T>G (n.2975-6T>G)
c.2312-6T>G (n.2312-6T>G)
c.6827-6T>G (n.6827-6T>G)
n.8350-6T>G
 ClinVar dbSNP
5g.13792223A>GCA2499217617DNAH5c.8225-6T>C (n.8225-6T>C)
c.8180-6T>C (n.8180-6T>C)
n.8432-6T>C
c.8333-6T>C (n.8333-6T>C)
c.7238-6T>C (n.7238-6T>C)
c.3422-6T>C (n.3422-6T>C)
c.2975-6T>C (n.2975-6T>C)
c.2312-6T>C (n.2312-6T>C)
c.6827-6T>C (n.6827-6T>C)
n.8350-6T>C
 ClinVar dbSNP gnomAD v4
5g.13792223A>TCA645541020DNAH5c.8225-6T>A (n.8225-6T>A)
c.8180-6T>A (n.8180-6T>A)
n.8432-6T>A
c.8333-6T>A (n.8333-6T>A)
c.7238-6T>A (n.7238-6T>A)
c.3422-6T>A (n.3422-6T>A)
c.2975-6T>A (n.2975-6T>A)
c.2312-6T>A (n.2312-6T>A)
c.6827-6T>A (n.6827-6T>A)
n.8350-6T>A
 COSMIC
5g.13792224A=CA1528441017DNAH5c.8225-7T= (n.8225-7T=)
c.8180-7T= (n.8180-7T=)
n.8432-7T=
c.8333-7T= (n.8333-7T=)
c.7238-7T= (n.7238-7T=)
c.3422-7T= (n.3422-7T=)
c.2975-7T= (n.2975-7T=)
c.2312-7T= (n.2312-7T=)
c.6827-7T= (n.6827-7T=)
n.8350-7T=
5g.13792224A>CCA557872360DNAH5c.8225-7T>G (n.8225-7T>G)
c.8180-7T>G (n.8180-7T>G)
n.8432-7T>G
c.8333-7T>G (n.8333-7T>G)
c.7238-7T>G (n.7238-7T>G)
c.3422-7T>G (n.3422-7T>G)
c.2975-7T>G (n.2975-7T>G)
c.2312-7T>G (n.2312-7T>G)
c.6827-7T>G (n.6827-7T>G)
n.8350-7T>G
 dbSNP gnomAD v2 gnomAD v4
5g.13792224A>GCA2673271072DNAH5c.8225-7T>C (n.8225-7T>C)
c.8180-7T>C (n.8180-7T>C)
n.8432-7T>C
c.8333-7T>C (n.8333-7T>C)
c.7238-7T>C (n.7238-7T>C)
c.3422-7T>C (n.3422-7T>C)
c.2975-7T>C (n.2975-7T>C)
c.2312-7T>C (n.2312-7T>C)
c.6827-7T>C (n.6827-7T>C)
n.8350-7T>C
 gnomAD v4
5g.13792225G>ACA3202858DNAH5c.8225-8C>T (n.8225-8C>T)
c.8180-8C>T (n.8180-8C>T)
n.8432-8C>T
c.8333-8C>T (n.8333-8C>T)
c.7238-8C>T (n.7238-8C>T)
c.3422-8C>T (n.3422-8C>T)
c.2975-8C>T (n.2975-8C>T)
c.2312-8C>T (n.2312-8C>T)
c.6827-8C>T (n.6827-8C>T)
n.8350-8C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13792225G=CA1528441018DNAH5c.8225-8C= (n.8225-8C=)
c.8180-8C= (n.8180-8C=)
n.8432-8C=
c.8333-8C= (n.8333-8C=)
c.7238-8C= (n.7238-8C=)
c.3422-8C= (n.3422-8C=)
c.2975-8C= (n.2975-8C=)
c.2312-8C= (n.2312-8C=)
c.6827-8C= (n.6827-8C=)
n.8350-8C=
5g.13792229delCA2499217618DNAH5c.8225-8del (n.8225-8del)
c.8180-8del (n.8180-8del)
n.8432-8del
c.8333-8del (n.8333-8del)
c.7238-8del (n.7238-8del)
c.3422-8del (n.3422-8del)
c.2975-8del (n.2975-8del)
c.2312-8del (n.2312-8del)
c.6827-8del (n.6827-8del)
n.8350-8del
 ClinVar dbSNP
5g.13792227G>ACA557872364DNAH5c.8225-10C>T (n.8225-10C>T)
c.8180-10C>T (n.8180-10C>T)
n.8432-10C>T
c.8333-10C>T (n.8333-10C>T)
c.7238-10C>T (n.7238-10C>T)
c.3422-10C>T (n.3422-10C>T)
c.2975-10C>T (n.2975-10C>T)
c.2312-10C>T (n.2312-10C>T)
c.6827-10C>T (n.6827-10C>T)
n.8350-10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13792227G>CCA2573138451DNAH5c.8225-10C>G (n.8225-10C>G)
c.8180-10C>G (n.8180-10C>G)
n.8432-10C>G
c.8333-10C>G (n.8333-10C>G)
c.7238-10C>G (n.7238-10C>G)
c.3422-10C>G (n.3422-10C>G)
c.2975-10C>G (n.2975-10C>G)
c.2312-10C>G (n.2312-10C>G)
c.6827-10C>G (n.6827-10C>G)
n.8350-10C>G
 ClinVar dbSNP
5g.13792227G=CA1528441019DNAH5c.8225-10C= (n.8225-10C=)
c.8180-10C= (n.8180-10C=)
n.8432-10C=
c.8333-10C= (n.8333-10C=)
c.7238-10C= (n.7238-10C=)
c.3422-10C= (n.3422-10C=)
c.2975-10C= (n.2975-10C=)
c.2312-10C= (n.2312-10C=)
c.6827-10C= (n.6827-10C=)
n.8350-10C=
5g.13792227G>TCA1528441020DNAH5c.8225-10C>A (n.8225-10C>A)
c.8180-10C>A (n.8180-10C>A)
n.8432-10C>A
c.8333-10C>A (n.8333-10C>A)
c.7238-10C>A (n.7238-10C>A)
c.3422-10C>A (n.3422-10C>A)
c.2975-10C>A (n.2975-10C>A)
c.2312-10C>A (n.2312-10C>A)
c.6827-10C>A (n.6827-10C>A)
n.8350-10C>A
 ClinVar dbSNP gnomAD v4
5g.13792228G>ACA2673271073DNAH5c.8225-11C>T (n.8225-11C>T)
c.8180-11C>T (n.8180-11C>T)
n.8432-11C>T
c.8333-11C>T (n.8333-11C>T)
c.7238-11C>T (n.7238-11C>T)
c.3422-11C>T (n.3422-11C>T)
c.2975-11C>T (n.2975-11C>T)
c.2312-11C>T (n.2312-11C>T)
c.6827-11C>T (n.6827-11C>T)
n.8350-11C>T
 gnomAD v4
5g.13792229G>ACA2578270197DNAH5c.8225-12C>T (n.8225-12C>T)
c.8180-12C>T (n.8180-12C>T)
n.8432-12C>T
c.8333-12C>T (n.8333-12C>T)
c.7238-12C>T (n.7238-12C>T)
c.3422-12C>T (n.3422-12C>T)
c.2975-12C>T (n.2975-12C>T)
c.2312-12C>T (n.2312-12C>T)
c.6827-12C>T (n.6827-12C>T)
n.8350-12C>T
 dbSNP gnomAD v4
5g.13792230A=CA1528441021DNAH5c.8225-13T= (n.8225-13T=)
c.8180-13T= (n.8180-13T=)
n.8432-13T=
c.8333-13T= (n.8333-13T=)
c.7238-13T= (n.7238-13T=)
c.3422-13T= (n.3422-13T=)
c.2975-13T= (n.2975-13T=)
c.2312-13T= (n.2312-13T=)
c.6827-13T= (n.6827-13T=)
n.8350-13T=
5g.13792230A>GCA804442282DNAH5c.8225-13T>C (n.8225-13T>C)
c.8180-13T>C (n.8180-13T>C)
n.8432-13T>C
c.8333-13T>C (n.8333-13T>C)
c.7238-13T>C (n.7238-13T>C)
c.3422-13T>C (n.3422-13T>C)
c.2975-13T>C (n.2975-13T>C)
c.2312-13T>C (n.2312-13T>C)
c.6827-13T>C (n.6827-13T>C)
n.8350-13T>C
 dbSNP
5g.13792231A=CA1528441022DNAH5c.8225-14T= (n.8225-14T=)
c.8180-14T= (n.8180-14T=)
n.8432-14T=
c.8333-14T= (n.8333-14T=)
c.7238-14T= (n.7238-14T=)
c.3422-14T= (n.3422-14T=)
c.2975-14T= (n.2975-14T=)
c.2312-14T= (n.2312-14T=)
c.6827-14T= (n.6827-14T=)
n.8350-14T=
5g.13792231A>GCA557872365DNAH5c.8225-14T>C (n.8225-14T>C)
c.8180-14T>C (n.8180-14T>C)
n.8432-14T>C
c.8333-14T>C (n.8333-14T>C)
c.7238-14T>C (n.7238-14T>C)
c.3422-14T>C (n.3422-14T>C)
c.2975-14T>C (n.2975-14T>C)
c.2312-14T>C (n.2312-14T>C)
c.6827-14T>C (n.6827-14T>C)
n.8350-14T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13792232A=CA1528441023DNAH5c.8225-15T= (n.8225-15T=)
c.8180-15T= (n.8180-15T=)
n.8432-15T=
c.8333-15T= (n.8333-15T=)
c.7238-15T= (n.7238-15T=)
c.3422-15T= (n.3422-15T=)
c.2975-15T= (n.2975-15T=)
c.2312-15T= (n.2312-15T=)
c.6827-15T= (n.6827-15T=)
n.8350-15T=
5g.13792232A>CCA3202859DNAH5c.8225-15T>G (n.8225-15T>G)
c.8180-15T>G (n.8180-15T>G)
n.8432-15T>G
c.8333-15T>G (n.8333-15T>G)
c.7238-15T>G (n.7238-15T>G)
c.3422-15T>G (n.3422-15T>G)
c.2975-15T>G (n.2975-15T>G)
c.2312-15T>G (n.2312-15T>G)
c.6827-15T>G (n.6827-15T>G)
n.8350-15T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792232A>GCA2673271074DNAH5c.8225-15T>C (n.8225-15T>C)
c.8180-15T>C (n.8180-15T>C)
n.8432-15T>C
c.8333-15T>C (n.8333-15T>C)
c.7238-15T>C (n.7238-15T>C)
c.3422-15T>C (n.3422-15T>C)
c.2975-15T>C (n.2975-15T>C)
c.2312-15T>C (n.2312-15T>C)
c.6827-15T>C (n.6827-15T>C)
n.8350-15T>C
 gnomAD v4
5g.13792233T>CCA3202860DNAH5c.8225-16A>G (n.8225-16A>G)
c.8180-16A>G (n.8180-16A>G)
n.8432-16A>G
c.8333-16A>G (n.8333-16A>G)
c.7238-16A>G (n.7238-16A>G)
c.3422-16A>G (n.3422-16A>G)
c.2975-16A>G (n.2975-16A>G)
c.2312-16A>G (n.2312-16A>G)
c.6827-16A>G (n.6827-16A>G)
n.8350-16A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13792233T=CA1528441024DNAH5c.8225-16A= (n.8225-16A=)
c.8180-16A= (n.8180-16A=)
n.8432-16A=
c.8333-16A= (n.8333-16A=)
c.7238-16A= (n.7238-16A=)
c.3422-16A= (n.3422-16A=)
c.2975-16A= (n.2975-16A=)
c.2312-16A= (n.2312-16A=)
c.6827-16A= (n.6827-16A=)
n.8350-16A=
5g.13792234T>ACA2578270198DNAH5c.8225-17A>T (n.8225-17A>T)
c.8180-17A>T (n.8180-17A>T)
n.8432-17A>T
c.8333-17A>T (n.8333-17A>T)
c.7238-17A>T (n.7238-17A>T)
c.3422-17A>T (n.3422-17A>T)
c.2975-17A>T (n.2975-17A>T)
c.2312-17A>T (n.2312-17A>T)
c.6827-17A>T (n.6827-17A>T)
n.8350-17A>T
5g.13792234T>CCA3202861DNAH5c.8225-17A>G (n.8225-17A>G)
c.8180-17A>G (n.8180-17A>G)
n.8432-17A>G
c.8333-17A>G (n.8333-17A>G)
c.7238-17A>G (n.7238-17A>G)
c.3422-17A>G (n.3422-17A>G)
c.2975-17A>G (n.2975-17A>G)
c.2312-17A>G (n.2312-17A>G)
c.6827-17A>G (n.6827-17A>G)
n.8350-17A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792234T>GCA1528441026DNAH5c.8225-17A>C (n.8225-17A>C)
c.8180-17A>C (n.8180-17A>C)
n.8432-17A>C
c.8333-17A>C (n.8333-17A>C)
c.7238-17A>C (n.7238-17A>C)
c.3422-17A>C (n.3422-17A>C)
c.2975-17A>C (n.2975-17A>C)
c.2312-17A>C (n.2312-17A>C)
c.6827-17A>C (n.6827-17A>C)
n.8350-17A>C
 dbSNP
5g.13792234T=CA1528441025DNAH5c.8225-17A= (n.8225-17A=)
c.8180-17A= (n.8180-17A=)
n.8432-17A=
c.8333-17A= (n.8333-17A=)
c.7238-17A= (n.7238-17A=)
c.3422-17A= (n.3422-17A=)
c.2975-17A= (n.2975-17A=)
c.2312-17A= (n.2312-17A=)
c.6827-17A= (n.6827-17A=)
n.8350-17A=
5g.13792235A=CA1528441027DNAH5c.8225-18T= (n.8225-18T=)
c.8180-18T= (n.8180-18T=)
n.8432-18T=
c.8333-18T= (n.8333-18T=)
c.7238-18T= (n.7238-18T=)
c.3422-18T= (n.3422-18T=)
c.2975-18T= (n.2975-18T=)
c.2312-18T= (n.2312-18T=)
c.6827-18T= (n.6827-18T=)
n.8350-18T=
5g.13792235A>GCA3202862DNAH5c.8225-18T>C (n.8225-18T>C)
c.8180-18T>C (n.8180-18T>C)
n.8432-18T>C
c.8333-18T>C (n.8333-18T>C)
c.7238-18T>C (n.7238-18T>C)
c.3422-18T>C (n.3422-18T>C)
c.2975-18T>C (n.2975-18T>C)
c.2312-18T>C (n.2312-18T>C)
c.6827-18T>C (n.6827-18T>C)
n.8350-18T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792236delCA2673271075DNAH5c.8225-19del (n.8225-19del)
c.8180-19del (n.8180-19del)
n.8432-19del
c.8333-19del (n.8333-19del)
c.7238-19del (n.7238-19del)
c.3422-19del (n.3422-19del)
c.2975-19del (n.2975-19del)
c.2312-19del (n.2312-19del)
c.6827-19del (n.6827-19del)
n.8350-19del
 gnomAD v4
5g.13792236C=CA1528441028DNAH5c.8225-19G= (n.8225-19G=)
c.8180-19G= (n.8180-19G=)
n.8432-19G=
c.8333-19G= (n.8333-19G=)
c.7238-19G= (n.7238-19G=)
c.3422-19G= (n.3422-19G=)
c.2975-19G= (n.2975-19G=)
c.2312-19G= (n.2312-19G=)
c.6827-19G= (n.6827-19G=)
n.8350-19G=
5g.13792236C>TCA1073399456DNAH5c.8225-19G>A (n.8225-19G>A)
c.8180-19G>A (n.8180-19G>A)
n.8432-19G>A
c.8333-19G>A (n.8333-19G>A)
c.7238-19G>A (n.7238-19G>A)
c.3422-19G>A (n.3422-19G>A)
c.2975-19G>A (n.2975-19G>A)
c.2312-19G>A (n.2312-19G>A)
c.6827-19G>A (n.6827-19G>A)
n.8350-19G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13792237A>TCA649997960DNAH5c.8225-20T>A (n.8225-20T>A)
c.8180-20T>A (n.8180-20T>A)
n.8432-20T>A
c.8333-20T>A (n.8333-20T>A)
c.7238-20T>A (n.7238-20T>A)
c.3422-20T>A (n.3422-20T>A)
c.2975-20T>A (n.2975-20T>A)
c.2312-20T>A (n.2312-20T>A)
c.6827-20T>A (n.6827-20T>A)
n.8350-20T>A
 COSMIC
5g.13792238G>ACA2673271076DNAH5c.8225-21C>T (n.8225-21C>T)
c.8180-21C>T (n.8180-21C>T)
n.8432-21C>T
c.8333-21C>T (n.8333-21C>T)
c.7238-21C>T (n.7238-21C>T)
c.3422-21C>T (n.3422-21C>T)
c.2975-21C>T (n.2975-21C>T)
c.2312-21C>T (n.2312-21C>T)
c.6827-21C>T (n.6827-21C>T)
n.8350-21C>T
 gnomAD v4
5g.13792238G>CCA804442292DNAH5c.8225-21C>G (n.8225-21C>G)
c.8180-21C>G (n.8180-21C>G)
n.8432-21C>G
c.8333-21C>G (n.8333-21C>G)
c.7238-21C>G (n.7238-21C>G)
c.3422-21C>G (n.3422-21C>G)
c.2975-21C>G (n.2975-21C>G)
c.2312-21C>G (n.2312-21C>G)
c.6827-21C>G (n.6827-21C>G)
n.8350-21C>G
 dbSNP
5g.13792238G=CA1528441029DNAH5c.8225-21C= (n.8225-21C=)
c.8180-21C= (n.8180-21C=)
n.8432-21C=
c.8333-21C= (n.8333-21C=)
c.7238-21C= (n.7238-21C=)
c.3422-21C= (n.3422-21C=)
c.2975-21C= (n.2975-21C=)
c.2312-21C= (n.2312-21C=)
c.6827-21C= (n.6827-21C=)
n.8350-21C=
5g.13792239C>TCA2673271077DNAH5c.8225-22G>A (n.8225-22G>A)
c.8180-22G>A (n.8180-22G>A)
n.8432-22G>A
c.8333-22G>A (n.8333-22G>A)
c.7238-22G>A (n.7238-22G>A)
c.3422-22G>A (n.3422-22G>A)
c.2975-22G>A (n.2975-22G>A)
c.2312-22G>A (n.2312-22G>A)
c.6827-22G>A (n.6827-22G>A)
n.8350-22G>A
 gnomAD v4

Number of alleles fetched