Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13792042G>ACA443263395DNAH5c.8400C>T (p.Val2800=)
c.8355C>T (p.Val2785=)
n.8607C>T
c.8508C>T (p.Val2836=)
c.7413C>T (p.Val2471=)
c.3597C>T (p.Val1199=)
c.3150C>T (p.Val1050=)
c.2487C>T (p.Val829=)
c.7002C>T (p.Val2334=)
n.8525C>T
 ClinVar COSMIC
5g.13792042G>CCA443263396DNAH5c.8400C>G (p.Val2800=)
c.8355C>G (p.Val2785=)
n.8607C>G
c.8508C>G (p.Val2836=)
c.7413C>G (p.Val2471=)
c.3597C>G (p.Val1199=)
c.3150C>G (p.Val1050=)
c.2487C>G (p.Val829=)
c.7002C>G (p.Val2334=)
n.8525C>G
 ClinVar dbSNP COSMIC
5g.13792042G>TCA443263397DNAH5c.8400C>A (p.Val2800=)
c.8355C>A (p.Val2785=)
n.8607C>A
c.8508C>A (p.Val2836=)
c.7413C>A (p.Val2471=)
c.3597C>A (p.Val1199=)
c.3150C>A (p.Val1050=)
c.2487C>A (p.Val829=)
c.7002C>A (p.Val2334=)
n.8525C>A
5g.13792043A>CCA359219006DNAH5c.8399T>G (p.Val2800Gly)
c.8354T>G (p.Val2785Gly)
n.8606T>G
c.8507T>G (p.Val2836Gly)
c.7412T>G (p.Val2471Gly)
c.3596T>G (p.Val1199Gly)
c.3149T>G (p.Val1050Gly)
c.2486T>G (p.Val829Gly)
c.7001T>G (p.Val2334Gly)
n.8524T>G
5g.13792043A>GCA359219008DNAH5c.8399T>C (p.Val2800Ala)
c.8354T>C (p.Val2785Ala)
n.8606T>C
c.8507T>C (p.Val2836Ala)
c.7412T>C (p.Val2471Ala)
c.3596T>C (p.Val1199Ala)
c.3149T>C (p.Val1050Ala)
c.2486T>C (p.Val829Ala)
c.7001T>C (p.Val2334Ala)
n.8524T>C
5g.13792043A>TCA359219009DNAH5c.8399T>A (p.Val2800Asp)
c.8354T>A (p.Val2785Asp)
n.8606T>A
c.8507T>A (p.Val2836Asp)
c.7412T>A (p.Val2471Asp)
c.3596T>A (p.Val1199Asp)
c.3149T>A (p.Val1050Asp)
c.2486T>A (p.Val829Asp)
c.7001T>A (p.Val2334Asp)
n.8524T>A
5g.13792044C>ACA359219011DNAH5c.8398G>T (p.Val2800Phe)
c.8353G>T (p.Val2785Phe)
n.8605G>T
c.8506G>T (p.Val2836Phe)
c.7411G>T (p.Val2471Phe)
c.3595G>T (p.Val1199Phe)
c.3148G>T (p.Val1050Phe)
c.2485G>T (p.Val829Phe)
c.7000G>T (p.Val2334Phe)
n.8523G>T
5g.13792044C=CA1528440940DNAH5c.8398G= (p.Val2800=)
c.8353G= (p.Val2785=)
n.8605G=
c.8506G= (p.Val2836=)
c.7411G= (p.Val2471=)
c.3595G= (p.Val1199=)
c.3148G= (p.Val1050=)
c.2485G= (p.Val829=)
c.7000G= (p.Val2334=)
n.8523G=
5g.13792044C>GCA359219013DNAH5c.8398G>C (p.Val2800Leu)
c.8353G>C (p.Val2785Leu)
n.8605G>C
c.8506G>C (p.Val2836Leu)
c.7411G>C (p.Val2471Leu)
c.3595G>C (p.Val1199Leu)
c.3148G>C (p.Val1050Leu)
c.2485G>C (p.Val829Leu)
c.7000G>C (p.Val2334Leu)
n.8523G>C
 gnomAD v4
5g.13792044C>TCA3202832DNAH5c.8398G>A (p.Val2800Ile)
c.8353G>A (p.Val2785Ile)
n.8605G>A
c.8506G>A (p.Val2836Ile)
c.7411G>A (p.Val2471Ile)
c.3595G>A (p.Val1199Ile)
c.3148G>A (p.Val1050Ile)
c.2485G>A (p.Val829Ile)
c.7000G>A (p.Val2334Ile)
n.8523G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13792045C>ACA443263399DNAH5c.8397G>T (p.Arg2799=)
c.8352G>T (p.Arg2784=)
n.8604G>T
c.8505G>T (p.Arg2835=)
c.7410G>T (p.Arg2470=)
c.3594G>T (p.Arg1198=)
c.3147G>T (p.Arg1049=)
c.2484G>T (p.Arg828=)
c.6999G>T (p.Arg2333=)
n.8522G>T
 ClinVar dbSNP gnomAD v4
5g.13792045C=CA1528440941DNAH5c.8397G= (p.Arg2799=)
c.8352G= (p.Arg2784=)
n.8604G=
c.8505G= (p.Arg2835=)
c.7410G= (p.Arg2470=)
c.3594G= (p.Arg1198=)
c.3147G= (p.Arg1049=)
c.2484G= (p.Arg828=)
c.6999G= (p.Arg2333=)
n.8522G=
5g.13792045C>GCA443263398DNAH5c.8397G>C (p.Arg2799=)
c.8352G>C (p.Arg2784=)
n.8604G>C
c.8505G>C (p.Arg2835=)
c.7410G>C (p.Arg2470=)
c.3594G>C (p.Arg1198=)
c.3147G>C (p.Arg1049=)
c.2484G>C (p.Arg828=)
c.6999G>C (p.Arg2333=)
n.8522G>C
5g.13792045C>TCA3202833DNAH5c.8397G>A (p.Arg2799=)
c.8352G>A (p.Arg2784=)
n.8604G>A
c.8505G>A (p.Arg2835=)
c.7410G>A (p.Arg2470=)
c.3594G>A (p.Arg1198=)
c.3147G>A (p.Arg1049=)
c.2484G>A (p.Arg828=)
c.6999G>A (p.Arg2333=)
n.8522G>A
 ClinVar dbSNP ExAC gnomAD v2
5g.13792046C>ACA359219016DNAH5c.8396G>T (p.Arg2799Leu)
c.8351G>T (p.Arg2784Leu)
n.8603G>T
c.8504G>T (p.Arg2835Leu)
c.7409G>T (p.Arg2470Leu)
c.3593G>T (p.Arg1198Leu)
c.3146G>T (p.Arg1049Leu)
c.2483G>T (p.Arg828Leu)
c.6998G>T (p.Arg2333Leu)
n.8521G>T
 gnomAD v4
5g.13792046C=CA1528440942DNAH5c.8396G= (p.Arg2799=)
c.8351G= (p.Arg2784=)
n.8603G=
c.8504G= (p.Arg2835=)
c.7409G= (p.Arg2470=)
c.3593G= (p.Arg1198=)
c.3146G= (p.Arg1049=)
c.2483G= (p.Arg828=)
c.6998G= (p.Arg2333=)
n.8521G=
5g.13792046C>GCA359219018DNAH5c.8396G>C (p.Arg2799Pro)
c.8351G>C (p.Arg2784Pro)
n.8603G>C
c.8504G>C (p.Arg2835Pro)
c.7409G>C (p.Arg2470Pro)
c.3593G>C (p.Arg1198Pro)
c.3146G>C (p.Arg1049Pro)
c.2483G>C (p.Arg828Pro)
c.6998G>C (p.Arg2333Pro)
n.8521G>C
 ClinVar dbSNP
5g.13792046C>TCA359219019DNAH5c.8396G>A (p.Arg2799Gln)
c.8351G>A (p.Arg2784Gln)
n.8603G>A
c.8504G>A (p.Arg2835Gln)
c.7409G>A (p.Arg2470Gln)
c.3593G>A (p.Arg1198Gln)
c.3146G>A (p.Arg1049Gln)
c.2483G>A (p.Arg828Gln)
c.6998G>A (p.Arg2333Gln)
n.8521G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792047G>ACA3202834DNAH5c.8395C>T (p.Arg2799Trp)
c.8350C>T (p.Arg2784Trp)
n.8602C>T
c.8503C>T (p.Arg2835Trp)
c.7408C>T (p.Arg2470Trp)
c.3592C>T (p.Arg1198Trp)
c.3145C>T (p.Arg1049Trp)
c.2482C>T (p.Arg828Trp)
c.6997C>T (p.Arg2333Trp)
n.8520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13792047G>CCA359219021DNAH5c.8395C>G (p.Arg2799Gly)
c.8350C>G (p.Arg2784Gly)
n.8602C>G
c.8503C>G (p.Arg2835Gly)
c.7408C>G (p.Arg2470Gly)
c.3592C>G (p.Arg1198Gly)
c.3145C>G (p.Arg1049Gly)
c.2482C>G (p.Arg828Gly)
c.6997C>G (p.Arg2333Gly)
n.8520C>G
 COSMIC
5g.13792047G=CA1528440943DNAH5c.8395C= (p.Arg2799=)
c.8350C= (p.Arg2784=)
n.8602C=
c.8503C= (p.Arg2835=)
c.7408C= (p.Arg2470=)
c.3592C= (p.Arg1198=)
c.3145C= (p.Arg1049=)
c.2482C= (p.Arg828=)
c.6997C= (p.Arg2333=)
n.8520C=
5g.13792047G>TCA443263400DNAH5c.8395C>A (p.Arg2799=)
c.8350C>A (p.Arg2784=)
n.8602C>A
c.8503C>A (p.Arg2835=)
c.7408C>A (p.Arg2470=)
c.3592C>A (p.Arg1198=)
c.3145C>A (p.Arg1049=)
c.2482C>A (p.Arg828=)
c.6997C>A (p.Arg2333=)
n.8520C>A
 dbSNP
5g.13792048A>CCA443263401DNAH5c.8394T>G (p.Ser2798=)
c.8349T>G (p.Ser2783=)
n.8601T>G
c.8502T>G (p.Ser2834=)
c.7407T>G (p.Ser2469=)
c.3591T>G (p.Ser1197=)
c.3144T>G (p.Ser1048=)
c.2481T>G (p.Ser827=)
c.6996T>G (p.Ser2332=)
n.8519T>G
5g.13792048A>GCA443263402DNAH5c.8394T>C (p.Ser2798=)
c.8349T>C (p.Ser2783=)
n.8601T>C
c.8502T>C (p.Ser2834=)
c.7407T>C (p.Ser2469=)
c.3591T>C (p.Ser1197=)
c.3144T>C (p.Ser1048=)
c.2481T>C (p.Ser827=)
c.6996T>C (p.Ser2332=)
n.8519T>C
5g.13792048A>TCA443263403DNAH5c.8394T>A (p.Ser2798=)
c.8349T>A (p.Ser2783=)
n.8601T>A
c.8502T>A (p.Ser2834=)
c.7407T>A (p.Ser2469=)
c.3591T>A (p.Ser1197=)
c.3144T>A (p.Ser1048=)
c.2481T>A (p.Ser827=)
c.6996T>A (p.Ser2332=)
n.8519T>A
5g.13792049G>ACA359219023DNAH5c.8393C>T (p.Ser2798Phe)
c.8348C>T (p.Ser2783Phe)
n.8600C>T
c.8501C>T (p.Ser2834Phe)
c.7406C>T (p.Ser2469Phe)
c.3590C>T (p.Ser1197Phe)
c.3143C>T (p.Ser1048Phe)
c.2480C>T (p.Ser827Phe)
c.6995C>T (p.Ser2332Phe)
n.8518C>T
5g.13792049G>CCA359219029DNAH5c.8393C>G (p.Ser2798Cys)
c.8348C>G (p.Ser2783Cys)
n.8600C>G
c.8501C>G (p.Ser2834Cys)
c.7406C>G (p.Ser2469Cys)
c.3590C>G (p.Ser1197Cys)
c.3143C>G (p.Ser1048Cys)
c.2480C>G (p.Ser827Cys)
c.6995C>G (p.Ser2332Cys)
n.8518C>G
5g.13792049G>TCA359219025DNAH5c.8393C>A (p.Ser2798Tyr)
c.8348C>A (p.Ser2783Tyr)
n.8600C>A
c.8501C>A (p.Ser2834Tyr)
c.7406C>A (p.Ser2469Tyr)
c.3590C>A (p.Ser1197Tyr)
c.3143C>A (p.Ser1048Tyr)
c.2480C>A (p.Ser827Tyr)
c.6995C>A (p.Ser2332Tyr)
n.8518C>A
5g.13792050A>CCA359219031DNAH5c.8392T>G (p.Ser2798Ala)
c.8347T>G (p.Ser2783Ala)
n.8599T>G
c.8500T>G (p.Ser2834Ala)
c.7405T>G (p.Ser2469Ala)
c.3589T>G (p.Ser1197Ala)
c.3142T>G (p.Ser1048Ala)
c.2479T>G (p.Ser827Ala)
c.6994T>G (p.Ser2332Ala)
n.8517T>G
5g.13792050A>GCA359219035DNAH5c.8392T>C (p.Ser2798Pro)
c.8347T>C (p.Ser2783Pro)
n.8599T>C
c.8500T>C (p.Ser2834Pro)
c.7405T>C (p.Ser2469Pro)
c.3589T>C (p.Ser1197Pro)
c.3142T>C (p.Ser1048Pro)
c.2479T>C (p.Ser827Pro)
c.6994T>C (p.Ser2332Pro)
n.8517T>C
5g.13792050A>TCA359219032DNAH5c.8392T>A (p.Ser2798Thr)
c.8347T>A (p.Ser2783Thr)
n.8599T>A
c.8500T>A (p.Ser2834Thr)
c.7405T>A (p.Ser2469Thr)
c.3589T>A (p.Ser1197Thr)
c.3142T>A (p.Ser1048Thr)
c.2479T>A (p.Ser827Thr)
c.6994T>A (p.Ser2332Thr)
n.8517T>A
 gnomAD v4
5g.13792051A>CCA443263404DNAH5c.8391T>G (p.Leu2797=)
c.8346T>G (p.Leu2782=)
n.8598T>G
c.8499T>G (p.Leu2833=)
c.7404T>G (p.Leu2468=)
c.3588T>G (p.Leu1196=)
c.3141T>G (p.Leu1047=)
c.2478T>G (p.Leu826=)
c.6993T>G (p.Leu2331=)
n.8516T>G
5g.13792051A>GCA443263406DNAH5c.8391T>C (p.Leu2797=)
c.8346T>C (p.Leu2782=)
n.8598T>C
c.8499T>C (p.Leu2833=)
c.7404T>C (p.Leu2468=)
c.3588T>C (p.Leu1196=)
c.3141T>C (p.Leu1047=)
c.2478T>C (p.Leu826=)
c.6993T>C (p.Leu2331=)
n.8516T>C
5g.13792051A>TCA443263405DNAH5c.8391T>A (p.Leu2797=)
c.8346T>A (p.Leu2782=)
n.8598T>A
c.8499T>A (p.Leu2833=)
c.7404T>A (p.Leu2468=)
c.3588T>A (p.Leu1196=)
c.3141T>A (p.Leu1047=)
c.2478T>A (p.Leu826=)
c.6993T>A (p.Leu2331=)
n.8516T>A
5g.13792052A>CCA359219037DNAH5c.8390T>G (p.Leu2797Arg)
c.8345T>G (p.Leu2782Arg)
n.8597T>G
c.8498T>G (p.Leu2833Arg)
c.7403T>G (p.Leu2468Arg)
c.3587T>G (p.Leu1196Arg)
c.3140T>G (p.Leu1047Arg)
c.2477T>G (p.Leu826Arg)
c.6992T>G (p.Leu2331Arg)
n.8515T>G
5g.13792052A>GCA359219041DNAH5c.8390T>C (p.Leu2797Pro)
c.8345T>C (p.Leu2782Pro)
n.8597T>C
c.8498T>C (p.Leu2833Pro)
c.7403T>C (p.Leu2468Pro)
c.3587T>C (p.Leu1196Pro)
c.3140T>C (p.Leu1047Pro)
c.2477T>C (p.Leu826Pro)
c.6992T>C (p.Leu2331Pro)
n.8515T>C
5g.13792052A>TCA359219039DNAH5c.8390T>A (p.Leu2797His)
c.8345T>A (p.Leu2782His)
n.8597T>A
c.8498T>A (p.Leu2833His)
c.7403T>A (p.Leu2468His)
c.3587T>A (p.Leu1196His)
c.3140T>A (p.Leu1047His)
c.2477T>A (p.Leu826His)
c.6992T>A (p.Leu2331His)
n.8515T>A
5g.13792053G>ACA359219044DNAH5c.8389C>T (p.Leu2797Phe)
c.8344C>T (p.Leu2782Phe)
n.8596C>T
c.8497C>T (p.Leu2833Phe)
c.7402C>T (p.Leu2468Phe)
c.3586C>T (p.Leu1196Phe)
c.3139C>T (p.Leu1047Phe)
c.2476C>T (p.Leu826Phe)
c.6991C>T (p.Leu2331Phe)
n.8514C>T
5g.13792053G>CCA359219047DNAH5c.8389C>G (p.Leu2797Val)
c.8344C>G (p.Leu2782Val)
n.8596C>G
c.8497C>G (p.Leu2833Val)
c.7402C>G (p.Leu2468Val)
c.3586C>G (p.Leu1196Val)
c.3139C>G (p.Leu1047Val)
c.2476C>G (p.Leu826Val)
c.6991C>G (p.Leu2331Val)
n.8514C>G
5g.13792053G>TCA359219046DNAH5c.8389C>A (p.Leu2797Ile)
c.8344C>A (p.Leu2782Ile)
n.8596C>A
c.8497C>A (p.Leu2833Ile)
c.7402C>A (p.Leu2468Ile)
c.3586C>A (p.Leu1196Ile)
c.3139C>A (p.Leu1047Ile)
c.2476C>A (p.Leu826Ile)
c.6991C>A (p.Leu2331Ile)
n.8514C>A
5g.13792054A=CA1528440944DNAH5c.8388T= (p.Asp2796=)
c.8343T= (p.Asp2781=)
n.8595T=
c.8496T= (p.Asp2832=)
c.7401T= (p.Asp2467=)
c.3585T= (p.Asp1195=)
c.3138T= (p.Asp1046=)
c.2475T= (p.Asp825=)
c.6990T= (p.Asp2330=)
n.8513T=
5g.13792054A>CCA359219050DNAH5c.8388T>G (p.Asp2796Glu)
c.8343T>G (p.Asp2781Glu)
n.8595T>G
c.8496T>G (p.Asp2832Glu)
c.7401T>G (p.Asp2467Glu)
c.3585T>G (p.Asp1195Glu)
c.3138T>G (p.Asp1046Glu)
c.2475T>G (p.Asp825Glu)
c.6990T>G (p.Asp2330Glu)
n.8513T>G
5g.13792054A>GCA443263407DNAH5c.8388T>C (p.Asp2796=)
c.8343T>C (p.Asp2781=)
n.8595T>C
c.8496T>C (p.Asp2832=)
c.7401T>C (p.Asp2467=)
c.3585T>C (p.Asp1195=)
c.3138T>C (p.Asp1046=)
c.2475T>C (p.Asp825=)
c.6990T>C (p.Asp2330=)
n.8513T>C
 ClinVar dbSNP
5g.13792054A>TCA359219051DNAH5c.8388T>A (p.Asp2796Glu)
c.8343T>A (p.Asp2781Glu)
n.8595T>A
c.8496T>A (p.Asp2832Glu)
c.7401T>A (p.Asp2467Glu)
c.3585T>A (p.Asp1195Glu)
c.3138T>A (p.Asp1046Glu)
c.2475T>A (p.Asp825Glu)
c.6990T>A (p.Asp2330Glu)
n.8513T>A
5g.13792055T>ACA359219054DNAH5c.8387A>T (p.Asp2796Val)
c.8342A>T (p.Asp2781Val)
n.8594A>T
c.8495A>T (p.Asp2832Val)
c.7400A>T (p.Asp2467Val)
c.3584A>T (p.Asp1195Val)
c.3137A>T (p.Asp1046Val)
c.2474A>T (p.Asp825Val)
c.6989A>T (p.Asp2330Val)
n.8512A>T
 gnomAD v4
5g.13792055T>CCA175781DNAH5c.8387A>G (p.Asp2796Gly)
c.8342A>G (p.Asp2781Gly)
n.8594A>G
c.8495A>G (p.Asp2832Gly)
c.7400A>G (p.Asp2467Gly)
c.3584A>G (p.Asp1195Gly)
c.3137A>G (p.Asp1046Gly)
c.2474A>G (p.Asp825Gly)
c.6989A>G (p.Asp2330Gly)
n.8512A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792055T>GCA359219057DNAH5c.8387A>C (p.Asp2796Ala)
c.8342A>C (p.Asp2781Ala)
n.8594A>C
c.8495A>C (p.Asp2832Ala)
c.7400A>C (p.Asp2467Ala)
c.3584A>C (p.Asp1195Ala)
c.3137A>C (p.Asp1046Ala)
c.2474A>C (p.Asp825Ala)
c.6989A>C (p.Asp2330Ala)
n.8512A>C
5g.13792055T=CA1528440945DNAH5c.8387A= (p.Asp2796=)
c.8342A= (p.Asp2781=)
n.8594A=
c.8495A= (p.Asp2832=)
c.7400A= (p.Asp2467=)
c.3584A= (p.Asp1195=)
c.3137A= (p.Asp1046=)
c.2474A= (p.Asp825=)
c.6989A= (p.Asp2330=)
n.8512A=
5g.13792056C>ACA359219059DNAH5c.8386G>T (p.Asp2796Tyr)
c.8341G>T (p.Asp2781Tyr)
n.8593G>T
c.8494G>T (p.Asp2832Tyr)
c.7399G>T (p.Asp2467Tyr)
c.3583G>T (p.Asp1195Tyr)
c.3136G>T (p.Asp1046Tyr)
c.2473G>T (p.Asp825Tyr)
c.6988G>T (p.Asp2330Tyr)
n.8511G>T
 gnomAD v4
5g.13792056C>GCA359219061DNAH5c.8386G>C (p.Asp2796His)
c.8341G>C (p.Asp2781His)
n.8593G>C
c.8494G>C (p.Asp2832His)
c.7399G>C (p.Asp2467His)
c.3583G>C (p.Asp1195His)
c.3136G>C (p.Asp1046His)
c.2473G>C (p.Asp825His)
c.6988G>C (p.Asp2330His)
n.8511G>C
 ClinVar dbSNP
5g.13792056C>TCA359219062DNAH5c.8386G>A (p.Asp2796Asn)
c.8341G>A (p.Asp2781Asn)
n.8593G>A
c.8494G>A (p.Asp2832Asn)
c.7399G>A (p.Asp2467Asn)
c.3583G>A (p.Asp1195Asn)
c.3136G>A (p.Asp1046Asn)
c.2473G>A (p.Asp825Asn)
c.6988G>A (p.Asp2330Asn)
n.8511G>A
5g.13792056_13792057delinsCTCA1528440946DNAH5c.8385_8386delinsAG (p.Arg2795=)
c.8340_8341delinsAG (p.Arg2780=)
n.8592_8593delinsAG
c.8493_8494delinsAG (p.Arg2831=)
c.7398_7399delinsAG (p.Arg2466=)
c.3582_3583delinsAG (p.Arg1194=)
c.3135_3136delinsAG (p.Arg1045=)
c.2472_2473delinsAG (p.Arg824=)
c.6987_6988delinsAG (p.Arg2329=)
n.8510_8511delinsAG
5g.13792057delCA557876593DNAH5c.8385del (p.Asp2796IlefsTer10)
c.8340del (p.Asp2781IlefsTer10)
n.8592del
c.8493del (p.Asp2832IlefsTer10)
c.7398del (p.Asp2467IlefsTer10)
c.3582del (p.Asp1195IlefsTer10)
c.3135del (p.Asp1046IlefsTer10)
c.2472del (p.Asp825IlefsTer10)
c.6987del (p.Asp2330IlefsTer10)
n.8510del
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13792057T>ACA443263408DNAH5c.8385A>T (p.Arg2795=)
c.8340A>T (p.Arg2780=)
n.8592A>T
c.8493A>T (p.Arg2831=)
c.7398A>T (p.Arg2466=)
c.3582A>T (p.Arg1194=)
c.3135A>T (p.Arg1045=)
c.2472A>T (p.Arg824=)
c.6987A>T (p.Arg2329=)
n.8510A>T
5g.13792057T>CCA443263409DNAH5c.8385A>G (p.Arg2795=)
c.8340A>G (p.Arg2780=)
n.8592A>G
c.8493A>G (p.Arg2831=)
c.7398A>G (p.Arg2466=)
c.3582A>G (p.Arg1194=)
c.3135A>G (p.Arg1045=)
c.2472A>G (p.Arg824=)
c.6987A>G (p.Arg2329=)
n.8510A>G
5g.13792057T>GCA443263410DNAH5c.8385A>C (p.Arg2795=)
c.8340A>C (p.Arg2780=)
n.8592A>C
c.8493A>C (p.Arg2831=)
c.7398A>C (p.Arg2466=)
c.3582A>C (p.Arg1194=)
c.3135A>C (p.Arg1045=)
c.2472A>C (p.Arg824=)
c.6987A>C (p.Arg2329=)
n.8510A>C
5g.13792058C>ACA359219065DNAH5c.8384G>T (p.Arg2795Leu)
c.8339G>T (p.Arg2780Leu)
n.8591G>T
c.8492G>T (p.Arg2831Leu)
c.7397G>T (p.Arg2466Leu)
c.3581G>T (p.Arg1194Leu)
c.3134G>T (p.Arg1045Leu)
c.2471G>T (p.Arg824Leu)
c.6986G>T (p.Arg2329Leu)
n.8509G>T
5g.13792058C=CA1528440947DNAH5c.8384G= (p.Arg2795=)
c.8339G= (p.Arg2780=)
n.8591G=
c.8492G= (p.Arg2831=)
c.7397G= (p.Arg2466=)
c.3581G= (p.Arg1194=)
c.3134G= (p.Arg1045=)
c.2471G= (p.Arg824=)
c.6986G= (p.Arg2329=)
n.8509G=
5g.13792058C>GCA359219068DNAH5c.8384G>C (p.Arg2795Pro)
c.8339G>C (p.Arg2780Pro)
n.8591G>C
c.8492G>C (p.Arg2831Pro)
c.7397G>C (p.Arg2466Pro)
c.3581G>C (p.Arg1194Pro)
c.3134G>C (p.Arg1045Pro)
c.2471G>C (p.Arg824Pro)
c.6986G>C (p.Arg2329Pro)
n.8509G>C
5g.13792058C>TCA359219070DNAH5c.8384G>A (p.Arg2795Gln)
c.8339G>A (p.Arg2780Gln)
n.8591G>A
c.8492G>A (p.Arg2831Gln)
c.7397G>A (p.Arg2466Gln)
c.3581G>A (p.Arg1194Gln)
c.3134G>A (p.Arg1045Gln)
c.2471G>A (p.Arg824Gln)
c.6986G>A (p.Arg2329Gln)
n.8509G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13792059G>ACA3202835DNAH5c.8383C>T (p.Arg2795Ter)
c.8338C>T (p.Arg2780Ter)
n.8590C>T
c.8491C>T (p.Arg2831Ter)
c.7396C>T (p.Arg2466Ter)
c.3580C>T (p.Arg1194Ter)
c.3133C>T (p.Arg1045Ter)
c.2470C>T (p.Arg824Ter)
c.6985C>T (p.Arg2329Ter)
n.8508C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792059G>CCA359219073DNAH5c.8383C>G (p.Arg2795Gly)
c.8338C>G (p.Arg2780Gly)
n.8590C>G
c.8491C>G (p.Arg2831Gly)
c.7396C>G (p.Arg2466Gly)
c.3580C>G (p.Arg1194Gly)
c.3133C>G (p.Arg1045Gly)
c.2470C>G (p.Arg824Gly)
c.6985C>G (p.Arg2329Gly)
n.8508C>G
 gnomAD v4
5g.13792059G=CA1528440948DNAH5c.8383C= (p.Arg2795=)
c.8338C= (p.Arg2780=)
n.8590C=
c.8491C= (p.Arg2831=)
c.7396C= (p.Arg2466=)
c.3580C= (p.Arg1194=)
c.3133C= (p.Arg1045=)
c.2470C= (p.Arg824=)
c.6985C= (p.Arg2329=)
n.8508C=
5g.13792059G>TCA443263412DNAH5c.8383C>A (p.Arg2795=)
c.8338C>A (p.Arg2780=)
n.8590C>A
c.8491C>A (p.Arg2831=)
c.7396C>A (p.Arg2466=)
c.3580C>A (p.Arg1194=)
c.3133C>A (p.Arg1045=)
c.2470C>A (p.Arg824=)
c.6985C>A (p.Arg2329=)
n.8508C>A
5g.13792060T>ACA443263413DNAH5c.8382A>T (p.Leu2794=)
c.8337A>T (p.Leu2779=)
n.8589A>T
c.8490A>T (p.Leu2830=)
c.7395A>T (p.Leu2465=)
c.3579A>T (p.Leu1193=)
c.3132A>T (p.Leu1044=)
c.2469A>T (p.Leu823=)
c.6984A>T (p.Leu2328=)
n.8507A>T
 dbSNP gnomAD v3 gnomAD v4
5g.13792060T>CCA3202836DNAH5c.8382A>G (p.Leu2794=)
c.8337A>G (p.Leu2779=)
n.8589A>G
c.8490A>G (p.Leu2830=)
c.7395A>G (p.Leu2465=)
c.3579A>G (p.Leu1193=)
c.3132A>G (p.Leu1044=)
c.2469A>G (p.Leu823=)
c.6984A>G (p.Leu2328=)
n.8507A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792060T>GCA443263414DNAH5c.8382A>C (p.Leu2794=)
c.8337A>C (p.Leu2779=)
n.8589A>C
c.8490A>C (p.Leu2830=)
c.7395A>C (p.Leu2465=)
c.3579A>C (p.Leu1193=)
c.3132A>C (p.Leu1044=)
c.2469A>C (p.Leu823=)
c.6984A>C (p.Leu2328=)
n.8507A>C
5g.13792060T=CA1528440949DNAH5c.8382A= (p.Leu2794=)
c.8337A= (p.Leu2779=)
n.8589A=
c.8490A= (p.Leu2830=)
c.7395A= (p.Leu2465=)
c.3579A= (p.Leu1193=)
c.3132A= (p.Leu1044=)
c.2469A= (p.Leu823=)
c.6984A= (p.Leu2328=)
n.8507A=
5g.13792061A=CA1528440950DNAH5c.8381T= (p.Leu2794=)
c.8336T= (p.Leu2779=)
n.8588T=
c.8489T= (p.Leu2830=)
c.7394T= (p.Leu2465=)
c.3578T= (p.Leu1193=)
c.3131T= (p.Leu1044=)
c.2468T= (p.Leu823=)
c.6983T= (p.Leu2328=)
n.8506T=
5g.13792061A>CCA359219076DNAH5c.8381T>G (p.Leu2794Arg)
c.8336T>G (p.Leu2779Arg)
n.8588T>G
c.8489T>G (p.Leu2830Arg)
c.7394T>G (p.Leu2465Arg)
c.3578T>G (p.Leu1193Arg)
c.3131T>G (p.Leu1044Arg)
c.2468T>G (p.Leu823Arg)
c.6983T>G (p.Leu2328Arg)
n.8506T>G
5g.13792061A>GCA113960090DNAH5c.8381T>C (p.Leu2794Pro)
c.8336T>C (p.Leu2779Pro)
n.8588T>C
c.8489T>C (p.Leu2830Pro)
c.7394T>C (p.Leu2465Pro)
c.3578T>C (p.Leu1193Pro)
c.3131T>C (p.Leu1044Pro)
c.2468T>C (p.Leu823Pro)
c.6983T>C (p.Leu2328Pro)
n.8506T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13792061A>TCA359219078DNAH5c.8381T>A (p.Leu2794Gln)
c.8336T>A (p.Leu2779Gln)
n.8588T>A
c.8489T>A (p.Leu2830Gln)
c.7394T>A (p.Leu2465Gln)
c.3578T>A (p.Leu1193Gln)
c.3131T>A (p.Leu1044Gln)
c.2468T>A (p.Leu823Gln)
c.6983T>A (p.Leu2328Gln)
n.8506T>A
5g.13792062G>ACA443263416DNAH5c.8380C>T (p.Leu2794=)
c.8335C>T (p.Leu2779=)
n.8587C>T
c.8488C>T (p.Leu2830=)
c.7393C>T (p.Leu2465=)
c.3577C>T (p.Leu1193=)
c.3130C>T (p.Leu1044=)
c.2467C>T (p.Leu823=)
c.6982C>T (p.Leu2328=)
n.8505C>T
5g.13792062G>CCA359219080DNAH5c.8380C>G (p.Leu2794Val)
c.8335C>G (p.Leu2779Val)
n.8587C>G
c.8488C>G (p.Leu2830Val)
c.7393C>G (p.Leu2465Val)
c.3577C>G (p.Leu1193Val)
c.3130C>G (p.Leu1044Val)
c.2467C>G (p.Leu823Val)
c.6982C>G (p.Leu2328Val)
n.8505C>G
5g.13792062G>TCA359219082DNAH5c.8380C>A (p.Leu2794Ile)
c.8335C>A (p.Leu2779Ile)
n.8587C>A
c.8488C>A (p.Leu2830Ile)
c.7393C>A (p.Leu2465Ile)
c.3577C>A (p.Leu1193Ile)
c.3130C>A (p.Leu1044Ile)
c.2467C>A (p.Leu823Ile)
c.6982C>A (p.Leu2328Ile)
n.8505C>A
5g.13792063G>ACA443263417DNAH5c.8379C>T (p.Asn2793=)
c.8334C>T (p.Asn2778=)
n.8586C>T
c.8487C>T (p.Asn2829=)
c.7392C>T (p.Asn2464=)
c.3576C>T (p.Asn1192=)
c.3129C>T (p.Asn1043=)
c.2466C>T (p.Asn822=)
c.6981C>T (p.Asn2327=)
n.8504C>T
5g.13792063G>CCA359219083DNAH5c.8379C>G (p.Asn2793Lys)
c.8334C>G (p.Asn2778Lys)
n.8586C>G
c.8487C>G (p.Asn2829Lys)
c.7392C>G (p.Asn2464Lys)
c.3576C>G (p.Asn1192Lys)
c.3129C>G (p.Asn1043Lys)
c.2466C>G (p.Asn822Lys)
c.6981C>G (p.Asn2327Lys)
n.8504C>G
5g.13792063G>TCA359219084DNAH5c.8379C>A (p.Asn2793Lys)
c.8334C>A (p.Asn2778Lys)
n.8586C>A
c.8487C>A (p.Asn2829Lys)
c.7392C>A (p.Asn2464Lys)
c.3576C>A (p.Asn1192Lys)
c.3129C>A (p.Asn1043Lys)
c.2466C>A (p.Asn822Lys)
c.6981C>A (p.Asn2327Lys)
n.8504C>A
5g.13792064T>ACA359219087DNAH5c.8378A>T (p.Asn2793Ile)
c.8333A>T (p.Asn2778Ile)
n.8585A>T
c.8486A>T (p.Asn2829Ile)
c.7391A>T (p.Asn2464Ile)
c.3575A>T (p.Asn1192Ile)
c.3128A>T (p.Asn1043Ile)
c.2465A>T (p.Asn822Ile)
c.6980A>T (p.Asn2327Ile)
n.8503A>T
5g.13792064T>CCA359219088DNAH5c.8378A>G (p.Asn2793Ser)
c.8333A>G (p.Asn2778Ser)
n.8585A>G
c.8486A>G (p.Asn2829Ser)
c.7391A>G (p.Asn2464Ser)
c.3575A>G (p.Asn1192Ser)
c.3128A>G (p.Asn1043Ser)
c.2465A>G (p.Asn822Ser)
c.6980A>G (p.Asn2327Ser)
n.8503A>G
5g.13792064T>GCA359219090DNAH5c.8378A>C (p.Asn2793Thr)
c.8333A>C (p.Asn2778Thr)
n.8585A>C
c.8486A>C (p.Asn2829Thr)
c.7391A>C (p.Asn2464Thr)
c.3575A>C (p.Asn1192Thr)
c.3128A>C (p.Asn1043Thr)
c.2465A>C (p.Asn822Thr)
c.6980A>C (p.Asn2327Thr)
n.8503A>C
5g.13792065T>ACA359219091DNAH5c.8377A>T (p.Asn2793Tyr)
c.8332A>T (p.Asn2778Tyr)
n.8584A>T
c.8485A>T (p.Asn2829Tyr)
c.7390A>T (p.Asn2464Tyr)
c.3574A>T (p.Asn1192Tyr)
c.3127A>T (p.Asn1043Tyr)
c.2464A>T (p.Asn822Tyr)
c.6979A>T (p.Asn2327Tyr)
n.8502A>T
5g.13792065T>CCA359219092DNAH5c.8377A>G (p.Asn2793Asp)
c.8332A>G (p.Asn2778Asp)
n.8584A>G
c.8485A>G (p.Asn2829Asp)
c.7390A>G (p.Asn2464Asp)
c.3574A>G (p.Asn1192Asp)
c.3127A>G (p.Asn1043Asp)
c.2464A>G (p.Asn822Asp)
c.6979A>G (p.Asn2327Asp)
n.8502A>G
5g.13792065T>GCA359219094DNAH5c.8377A>C (p.Asn2793His)
c.8332A>C (p.Asn2778His)
n.8584A>C
c.8485A>C (p.Asn2829His)
c.7390A>C (p.Asn2464His)
c.3574A>C (p.Asn1192His)
c.3127A>C (p.Asn1043His)
c.2464A>C (p.Asn822His)
c.6979A>C (p.Asn2327His)
n.8502A>C
5g.13792066A>CCA359219098DNAH5c.8376T>G (p.Phe2792Leu)
c.8331T>G (p.Phe2777Leu)
n.8583T>G
c.8484T>G (p.Phe2828Leu)
c.7389T>G (p.Phe2463Leu)
c.3573T>G (p.Phe1191Leu)
c.3126T>G (p.Phe1042Leu)
c.2463T>G (p.Phe821Leu)
c.6978T>G (p.Phe2326Leu)
n.8501T>G
5g.13792066A>GCA443263418DNAH5c.8376T>C (p.Phe2792=)
c.8331T>C (p.Phe2777=)
n.8583T>C
c.8484T>C (p.Phe2828=)
c.7389T>C (p.Phe2463=)
c.3573T>C (p.Phe1191=)
c.3126T>C (p.Phe1042=)
c.2463T>C (p.Phe821=)
c.6978T>C (p.Phe2326=)
n.8501T>C
5g.13792066A>TCA359219096DNAH5c.8376T>A (p.Phe2792Leu)
c.8331T>A (p.Phe2777Leu)
n.8583T>A
c.8484T>A (p.Phe2828Leu)
c.7389T>A (p.Phe2463Leu)
c.3573T>A (p.Phe1191Leu)
c.3126T>A (p.Phe1042Leu)
c.2463T>A (p.Phe821Leu)
c.6978T>A (p.Phe2326Leu)
n.8501T>A
5g.13792067A>CCA359219100DNAH5c.8375T>G (p.Phe2792Cys)
c.8330T>G (p.Phe2777Cys)
n.8582T>G
c.8483T>G (p.Phe2828Cys)
c.7388T>G (p.Phe2463Cys)
c.3572T>G (p.Phe1191Cys)
c.3125T>G (p.Phe1042Cys)
c.2462T>G (p.Phe821Cys)
c.6977T>G (p.Phe2326Cys)
n.8500T>G
5g.13792067A>GCA359219102DNAH5c.8375T>C (p.Phe2792Ser)
c.8330T>C (p.Phe2777Ser)
n.8582T>C
c.8483T>C (p.Phe2828Ser)
c.7388T>C (p.Phe2463Ser)
c.3572T>C (p.Phe1191Ser)
c.3125T>C (p.Phe1042Ser)
c.2462T>C (p.Phe821Ser)
c.6977T>C (p.Phe2326Ser)
n.8500T>C
5g.13792067A>TCA359219104DNAH5c.8375T>A (p.Phe2792Tyr)
c.8330T>A (p.Phe2777Tyr)
n.8582T>A
c.8483T>A (p.Phe2828Tyr)
c.7388T>A (p.Phe2463Tyr)
c.3572T>A (p.Phe1191Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2462T>A (p.Phe821Tyr)
c.6977T>A (p.Phe2326Tyr)
n.8500T>A
5g.13792068A=CA1528440951DNAH5c.8374T= (p.Phe2792=)
c.8329T= (p.Phe2777=)
n.8581T=
c.8482T= (p.Phe2828=)
c.7387T= (p.Phe2463=)
c.3571T= (p.Phe1191=)
c.3124T= (p.Phe1042=)
c.2461T= (p.Phe821=)
c.6976T= (p.Phe2326=)
n.8499T=
5g.13792068A>CCA359219106DNAH5c.8374T>G (p.Phe2792Val)
c.8329T>G (p.Phe2777Val)
n.8581T>G
c.8482T>G (p.Phe2828Val)
c.7387T>G (p.Phe2463Val)
c.3571T>G (p.Phe1191Val)
c.3124T>G (p.Phe1042Val)
c.2461T>G (p.Phe821Val)
c.6976T>G (p.Phe2326Val)
n.8499T>G
5g.13792068A>GCA359219108DNAH5c.8374T>C (p.Phe2792Leu)
c.8329T>C (p.Phe2777Leu)
n.8581T>C
c.8482T>C (p.Phe2828Leu)
c.7387T>C (p.Phe2463Leu)
c.3571T>C (p.Phe1191Leu)
c.3124T>C (p.Phe1042Leu)
c.2461T>C (p.Phe821Leu)
c.6976T>C (p.Phe2326Leu)
n.8499T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13792068A>TCA359219110DNAH5c.8374T>A (p.Phe2792Ile)
c.8329T>A (p.Phe2777Ile)
n.8581T>A
c.8482T>A (p.Phe2828Ile)
c.7387T>A (p.Phe2463Ile)
c.3571T>A (p.Phe1191Ile)
c.3124T>A (p.Phe1042Ile)
c.2461T>A (p.Phe821Ile)
c.6976T>A (p.Phe2326Ile)
n.8499T>A
5g.13792069C>ACA443263419DNAH5c.8373G>T (p.Val2791=)
c.8328G>T (p.Val2776=)
n.8580G>T
c.8481G>T (p.Val2827=)
c.7386G>T (p.Val2462=)
c.3570G>T (p.Val1190=)
c.3123G>T (p.Val1041=)
c.2460G>T (p.Val820=)
c.6975G>T (p.Val2325=)
n.8498G>T
 ClinVar
5g.13792069C>GCA443263420DNAH5c.8373G>C (p.Val2791=)
c.8328G>C (p.Val2776=)
n.8580G>C
c.8481G>C (p.Val2827=)
c.7386G>C (p.Val2462=)
c.3570G>C (p.Val1190=)
c.3123G>C (p.Val1041=)
c.2460G>C (p.Val820=)
c.6975G>C (p.Val2325=)
n.8498G>C
5g.13792069C>TCA443263421DNAH5c.8373G>A (p.Val2791=)
c.8328G>A (p.Val2776=)
n.8580G>A
c.8481G>A (p.Val2827=)
c.7386G>A (p.Val2462=)
c.3570G>A (p.Val1190=)
c.3123G>A (p.Val1041=)
c.2460G>A (p.Val820=)
c.6975G>A (p.Val2325=)
n.8498G>A
5g.13792070A>CCA359219116DNAH5c.8372T>G (p.Val2791Gly)
c.8327T>G (p.Val2776Gly)
n.8579T>G
c.8480T>G (p.Val2827Gly)
c.7385T>G (p.Val2462Gly)
c.3569T>G (p.Val1190Gly)
c.3122T>G (p.Val1041Gly)
c.2459T>G (p.Val820Gly)
c.6974T>G (p.Val2325Gly)
n.8497T>G
5g.13792070A>GCA359219112DNAH5c.8372T>C (p.Val2791Ala)
c.8327T>C (p.Val2776Ala)
n.8579T>C
c.8480T>C (p.Val2827Ala)
c.7385T>C (p.Val2462Ala)
c.3569T>C (p.Val1190Ala)
c.3122T>C (p.Val1041Ala)
c.2459T>C (p.Val820Ala)
c.6974T>C (p.Val2325Ala)
n.8497T>C
5g.13792070A>TCA359219114DNAH5c.8372T>A (p.Val2791Glu)
c.8327T>A (p.Val2776Glu)
n.8579T>A
c.8480T>A (p.Val2827Glu)
c.7385T>A (p.Val2462Glu)
c.3569T>A (p.Val1190Glu)
c.3122T>A (p.Val1041Glu)
c.2459T>A (p.Val820Glu)
c.6974T>A (p.Val2325Glu)
n.8497T>A
5g.13792071C>ACA359219118DNAH5c.8371G>T (p.Val2791Leu)
c.8326G>T (p.Val2776Leu)
n.8578G>T
c.8479G>T (p.Val2827Leu)
c.7384G>T (p.Val2462Leu)
c.3568G>T (p.Val1190Leu)
c.3121G>T (p.Val1041Leu)
c.2458G>T (p.Val820Leu)
c.6973G>T (p.Val2325Leu)
n.8496G>T
5g.13792071C=CA1528440952DNAH5c.8371G= (p.Val2791=)
c.8326G= (p.Val2776=)
n.8578G=
c.8479G= (p.Val2827=)
c.7384G= (p.Val2462=)
c.3568G= (p.Val1190=)
c.3121G= (p.Val1041=)
c.2458G= (p.Val820=)
c.6973G= (p.Val2325=)
n.8496G=
5g.13792071C>GCA359219119DNAH5c.8371G>C (p.Val2791Leu)
c.8326G>C (p.Val2776Leu)
n.8578G>C
c.8479G>C (p.Val2827Leu)
c.7384G>C (p.Val2462Leu)
c.3568G>C (p.Val1190Leu)
c.3121G>C (p.Val1041Leu)
c.2458G>C (p.Val820Leu)
c.6973G>C (p.Val2325Leu)
n.8496G>C
5g.13792071C>TCA359219121DNAH5c.8371G>A (p.Val2791Met)
c.8326G>A (p.Val2776Met)
n.8578G>A
c.8479G>A (p.Val2827Met)
c.7384G>A (p.Val2462Met)
c.3568G>A (p.Val1190Met)
c.3121G>A (p.Val1041Met)
c.2458G>A (p.Val820Met)
c.6973G>A (p.Val2325Met)
n.8496G>A
 dbSNP gnomAD v4 COSMIC
5g.13792072A>CCA359219124DNAH5c.8370T>G (p.Tyr2790Ter)
c.8325T>G (p.Tyr2775Ter)
n.8577T>G
c.8478T>G (p.Tyr2826Ter)
c.7383T>G (p.Tyr2461Ter)
c.3567T>G (p.Tyr1189Ter)
c.3120T>G (p.Tyr1040Ter)
c.2457T>G (p.Tyr819Ter)
c.6972T>G (p.Tyr2324Ter)
n.8495T>G
5g.13792072A>GCA443263422DNAH5c.8370T>C (p.Tyr2790=)
c.8325T>C (p.Tyr2775=)
n.8577T>C
c.8478T>C (p.Tyr2826=)
c.7383T>C (p.Tyr2461=)
c.3567T>C (p.Tyr1189=)
c.3120T>C (p.Tyr1040=)
c.2457T>C (p.Tyr819=)
c.6972T>C (p.Tyr2324=)
n.8495T>C
 ClinVar gnomAD v4
5g.13792072A>TCA359219125DNAH5c.8370T>A (p.Tyr2790Ter)
c.8325T>A (p.Tyr2775Ter)
n.8577T>A
c.8478T>A (p.Tyr2826Ter)
c.7383T>A (p.Tyr2461Ter)
c.3567T>A (p.Tyr1189Ter)
c.3120T>A (p.Tyr1040Ter)
c.2457T>A (p.Tyr819Ter)
c.6972T>A (p.Tyr2324Ter)
n.8495T>A
 ClinVar
5g.13792073T>ACA359219126DNAH5c.8369A>T (p.Tyr2790Phe)
c.8324A>T (p.Tyr2775Phe)
n.8576A>T
c.8477A>T (p.Tyr2826Phe)
c.7382A>T (p.Tyr2461Phe)
c.3566A>T (p.Tyr1189Phe)
c.3119A>T (p.Tyr1040Phe)
c.2456A>T (p.Tyr819Phe)
c.6971A>T (p.Tyr2324Phe)
n.8494A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13792073T>CCA3202837DNAH5c.8369A>G (p.Tyr2790Cys)
c.8324A>G (p.Tyr2775Cys)
n.8576A>G
c.8477A>G (p.Tyr2826Cys)
c.7382A>G (p.Tyr2461Cys)
c.3566A>G (p.Tyr1189Cys)
c.3119A>G (p.Tyr1040Cys)
c.2456A>G (p.Tyr819Cys)
c.6971A>G (p.Tyr2324Cys)
n.8494A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792073T>GCA359219128DNAH5c.8369A>C (p.Tyr2790Ser)
c.8324A>C (p.Tyr2775Ser)
n.8576A>C
c.8477A>C (p.Tyr2826Ser)
c.7382A>C (p.Tyr2461Ser)
c.3566A>C (p.Tyr1189Ser)
c.3119A>C (p.Tyr1040Ser)
c.2456A>C (p.Tyr819Ser)
c.6971A>C (p.Tyr2324Ser)
n.8494A>C
5g.13792073T=CA1528440953DNAH5c.8369A= (p.Tyr2790=)
c.8324A= (p.Tyr2775=)
n.8576A=
c.8477A= (p.Tyr2826=)
c.7382A= (p.Tyr2461=)
c.3566A= (p.Tyr1189=)
c.3119A= (p.Tyr1040=)
c.2456A= (p.Tyr819=)
c.6971A= (p.Tyr2324=)
n.8494A=
5g.13792074A=CA1528440954DNAH5c.8368T= (p.Tyr2790=)
c.8323T= (p.Tyr2775=)
n.8575T=
c.8476T= (p.Tyr2826=)
c.7381T= (p.Tyr2461=)
c.3565T= (p.Tyr1189=)
c.3118T= (p.Tyr1040=)
c.2455T= (p.Tyr819=)
c.6970T= (p.Tyr2324=)
n.8493T=
5g.13792074A>CCA359219132DNAH5c.8368T>G (p.Tyr2790Asp)
c.8323T>G (p.Tyr2775Asp)
n.8575T>G
c.8476T>G (p.Tyr2826Asp)
c.7381T>G (p.Tyr2461Asp)
c.3565T>G (p.Tyr1189Asp)
c.3118T>G (p.Tyr1040Asp)
c.2455T>G (p.Tyr819Asp)
c.6970T>G (p.Tyr2324Asp)
n.8493T>G
 dbSNP gnomAD v4
5g.13792074A>GCA359219134DNAH5c.8368T>C (p.Tyr2790His)
c.8323T>C (p.Tyr2775His)
n.8575T>C
c.8476T>C (p.Tyr2826His)
c.7381T>C (p.Tyr2461His)
c.3565T>C (p.Tyr1189His)
c.3118T>C (p.Tyr1040His)
c.2455T>C (p.Tyr819His)
c.6970T>C (p.Tyr2324His)
n.8493T>C
5g.13792074A>TCA359219136DNAH5c.8368T>A (p.Tyr2790Asn)
c.8323T>A (p.Tyr2775Asn)
n.8575T>A
c.8476T>A (p.Tyr2826Asn)
c.7381T>A (p.Tyr2461Asn)
c.3565T>A (p.Tyr1189Asn)
c.3118T>A (p.Tyr1040Asn)
c.2455T>A (p.Tyr819Asn)
c.6970T>A (p.Tyr2324Asn)
n.8493T>A
5g.13792075dupCA2673271068DNAH5c.8368dup (p.Tyr2790LeufsTer4)
c.8323dup (p.Tyr2775LeufsTer4)
n.8575dup
c.8476dup (p.Tyr2826LeufsTer4)
c.7381dup (p.Tyr2461LeufsTer4)
c.3565dup (p.Tyr1189LeufsTer4)
c.3118dup (p.Tyr1040LeufsTer4)
c.2455dup (p.Tyr819LeufsTer4)
c.6970dup (p.Tyr2324LeufsTer4)
n.8493dup
 gnomAD v4
5g.13792075delCA2695204156DNAH5c.8368del (p.Tyr2790MetfsTer16)
c.8323del (p.Tyr2775MetfsTer16)
n.8575del
c.8476del (p.Tyr2826MetfsTer16)
c.7381del (p.Tyr2461MetfsTer16)
c.3565del (p.Tyr1189MetfsTer16)
c.3118del (p.Tyr1040MetfsTer16)
c.2455del (p.Tyr819MetfsTer16)
c.6970del (p.Tyr2324MetfsTer16)
n.8493del
5g.13792075A>CCA359219138DNAH5c.8367T>G (p.His2789Gln)
c.8322T>G (p.His2774Gln)
n.8574T>G
c.8475T>G (p.His2825Gln)
c.7380T>G (p.His2460Gln)
c.3564T>G (p.His1188Gln)
c.3117T>G (p.His1039Gln)
c.2454T>G (p.His818Gln)
c.6969T>G (p.His2323Gln)
n.8492T>G
5g.13792075A>GCA443263424DNAH5c.8367T>C (p.His2789=)
c.8322T>C (p.His2774=)
n.8574T>C
c.8475T>C (p.His2825=)
c.7380T>C (p.His2460=)
c.3564T>C (p.His1188=)
c.3117T>C (p.His1039=)
c.2454T>C (p.His818=)
c.6969T>C (p.His2323=)
n.8492T>C
5g.13792075A>TCA359219139DNAH5c.8367T>A (p.His2789Gln)
c.8322T>A (p.His2774Gln)
n.8574T>A
c.8475T>A (p.His2825Gln)
c.7380T>A (p.His2460Gln)
c.3564T>A (p.His1188Gln)
c.3117T>A (p.His1039Gln)
c.2454T>A (p.His818Gln)
c.6969T>A (p.His2323Gln)
n.8492T>A
 gnomAD v4
5g.13792076T>ACA359219141DNAH5c.8366A>T (p.His2789Leu)
c.8321A>T (p.His2774Leu)
n.8573A>T
c.8474A>T (p.His2825Leu)
c.7379A>T (p.His2460Leu)
c.3563A>T (p.His1188Leu)
c.3116A>T (p.His1039Leu)
c.2453A>T (p.His818Leu)
c.6968A>T (p.His2323Leu)
n.8491A>T
 dbSNP gnomAD v4
5g.13792076T>CCA359219143DNAH5c.8366A>G (p.His2789Arg)
c.8321A>G (p.His2774Arg)
n.8573A>G
c.8474A>G (p.His2825Arg)
c.7379A>G (p.His2460Arg)
c.3563A>G (p.His1188Arg)
c.3116A>G (p.His1039Arg)
c.2453A>G (p.His818Arg)
c.6968A>G (p.His2323Arg)
n.8491A>G
5g.13792076T>GCA359219145DNAH5c.8366A>C (p.His2789Pro)
c.8321A>C (p.His2774Pro)
n.8573A>C
c.8474A>C (p.His2825Pro)
c.7379A>C (p.His2460Pro)
c.3563A>C (p.His1188Pro)
c.3116A>C (p.His1039Pro)
c.2453A>C (p.His818Pro)
c.6968A>C (p.His2323Pro)
n.8491A>C
 dbSNP
5g.13792076T=CA1528440955DNAH5c.8366A= (p.His2789=)
c.8321A= (p.His2774=)
n.8573A=
c.8474A= (p.His2825=)
c.7379A= (p.His2460=)
c.3563A= (p.His1188=)
c.3116A= (p.His1039=)
c.2453A= (p.His818=)
c.6968A= (p.His2323=)
n.8491A=
5g.13792077G>ACA359219147DNAH5c.8365C>T (p.His2789Tyr)
c.8320C>T (p.His2774Tyr)
n.8572C>T
c.8473C>T (p.His2825Tyr)
c.7378C>T (p.His2460Tyr)
c.3562C>T (p.His1188Tyr)
c.3115C>T (p.His1039Tyr)
c.2452C>T (p.His818Tyr)
c.6967C>T (p.His2323Tyr)
n.8490C>T
 COSMIC
5g.13792077G>CCA359219148DNAH5c.8365C>G (p.His2789Asp)
c.8320C>G (p.His2774Asp)
n.8572C>G
c.8473C>G (p.His2825Asp)
c.7378C>G (p.His2460Asp)
c.3562C>G (p.His1188Asp)
c.3115C>G (p.His1039Asp)
c.2452C>G (p.His818Asp)
c.6967C>G (p.His2323Asp)
n.8490C>G
5g.13792077G>TCA359219150DNAH5c.8365C>A (p.His2789Asn)
c.8320C>A (p.His2774Asn)
n.8572C>A
c.8473C>A (p.His2825Asn)
c.7378C>A (p.His2460Asn)
c.3562C>A (p.His1188Asn)
c.3115C>A (p.His1039Asn)
c.2452C>A (p.His818Asn)
c.6967C>A (p.His2323Asn)
n.8490C>A
5g.13792078G>ACA443263425DNAH5c.8364C>T (p.Phe2788=)
c.8319C>T (p.Phe2773=)
n.8571C>T
c.8472C>T (p.Phe2824=)
c.7377C>T (p.Phe2459=)
c.3561C>T (p.Phe1187=)
c.3114C>T (p.Phe1038=)
c.2451C>T (p.Phe817=)
c.6966C>T (p.Phe2322=)
n.8489C>T
 COSMIC
5g.13792078G>CCA359219151DNAH5c.8364C>G (p.Phe2788Leu)
c.8319C>G (p.Phe2773Leu)
n.8571C>G
c.8472C>G (p.Phe2824Leu)
c.7377C>G (p.Phe2459Leu)
c.3561C>G (p.Phe1187Leu)
c.3114C>G (p.Phe1038Leu)
c.2451C>G (p.Phe817Leu)
c.6966C>G (p.Phe2322Leu)
n.8489C>G
5g.13792078G>TCA359219152DNAH5c.8364C>A (p.Phe2788Leu)
c.8319C>A (p.Phe2773Leu)
n.8571C>A
c.8472C>A (p.Phe2824Leu)
c.7377C>A (p.Phe2459Leu)
c.3561C>A (p.Phe1187Leu)
c.3114C>A (p.Phe1038Leu)
c.2451C>A (p.Phe817Leu)
c.6966C>A (p.Phe2322Leu)
n.8489C>A
5g.13792079A>CCA359219154DNAH5c.8363T>G (p.Phe2788Cys)
c.8318T>G (p.Phe2773Cys)
n.8570T>G
c.8471T>G (p.Phe2824Cys)
c.7376T>G (p.Phe2459Cys)
c.3560T>G (p.Phe1187Cys)
c.3113T>G (p.Phe1038Cys)
c.2450T>G (p.Phe817Cys)
c.6965T>G (p.Phe2322Cys)
n.8488T>G
5g.13792079A>GCA359219156DNAH5c.8363T>C (p.Phe2788Ser)
c.8318T>C (p.Phe2773Ser)
n.8570T>C
c.8471T>C (p.Phe2824Ser)
c.7376T>C (p.Phe2459Ser)
c.3560T>C (p.Phe1187Ser)
c.3113T>C (p.Phe1038Ser)
c.2450T>C (p.Phe817Ser)
c.6965T>C (p.Phe2322Ser)
n.8488T>C
5g.13792079A>TCA359219158DNAH5c.8363T>A (p.Phe2788Tyr)
c.8318T>A (p.Phe2773Tyr)
n.8570T>A
c.8471T>A (p.Phe2824Tyr)
c.7376T>A (p.Phe2459Tyr)
c.3560T>A (p.Phe1187Tyr)
c.3113T>A (p.Phe1038Tyr)
c.2450T>A (p.Phe817Tyr)
c.6965T>A (p.Phe2322Tyr)
n.8488T>A
5g.13792080A=CA1528440956DNAH5c.8362T= (p.Phe2788=)
c.8317T= (p.Phe2773=)
n.8569T=
c.8470T= (p.Phe2824=)
c.7375T= (p.Phe2459=)
c.3559T= (p.Phe1187=)
c.3112T= (p.Phe1038=)
c.2449T= (p.Phe817=)
c.6964T= (p.Phe2322=)
n.8487T=
5g.13792080A>CCA359219159DNAH5c.8362T>G (p.Phe2788Val)
c.8317T>G (p.Phe2773Val)
n.8569T>G
c.8470T>G (p.Phe2824Val)
c.7375T>G (p.Phe2459Val)
c.3559T>G (p.Phe1187Val)
c.3112T>G (p.Phe1038Val)
c.2449T>G (p.Phe817Val)
c.6964T>G (p.Phe2322Val)
n.8487T>G
5g.13792080A>GCA359219161DNAH5c.8362T>C (p.Phe2788Leu)
c.8317T>C (p.Phe2773Leu)
n.8569T>C
c.8470T>C (p.Phe2824Leu)
c.7375T>C (p.Phe2459Leu)
c.3559T>C (p.Phe1187Leu)
c.3112T>C (p.Phe1038Leu)
c.2449T>C (p.Phe817Leu)
c.6964T>C (p.Phe2322Leu)
n.8487T>C
5g.13792080A>TCA359219162DNAH5c.8362T>A (p.Phe2788Ile)
c.8317T>A (p.Phe2773Ile)
n.8569T>A
c.8470T>A (p.Phe2824Ile)
c.7375T>A (p.Phe2459Ile)
c.3559T>A (p.Phe1187Ile)
c.3112T>A (p.Phe1038Ile)
c.2449T>A (p.Phe817Ile)
c.6964T>A (p.Phe2322Ile)
n.8487T>A
 dbSNP
5g.13792081T>ACA359219166DNAH5c.8361A>T (p.Lys2787Asn)
c.8316A>T (p.Lys2772Asn)
n.8568A>T
c.8469A>T (p.Lys2823Asn)
c.7374A>T (p.Lys2458Asn)
c.3558A>T (p.Lys1186Asn)
c.3111A>T (p.Lys1037Asn)
c.2448A>T (p.Lys816Asn)
c.6963A>T (p.Lys2321Asn)
n.8486A>T
5g.13792081T>CCA443263426DNAH5c.8361A>G (p.Lys2787=)
c.8316A>G (p.Lys2772=)
n.8568A>G
c.8469A>G (p.Lys2823=)
c.7374A>G (p.Lys2458=)
c.3558A>G (p.Lys1186=)
c.3111A>G (p.Lys1037=)
c.2448A>G (p.Lys816=)
c.6963A>G (p.Lys2321=)
n.8486A>G
5g.13792081T>GCA359219164DNAH5c.8361A>C (p.Lys2787Asn)
c.8316A>C (p.Lys2772Asn)
n.8568A>C
c.8469A>C (p.Lys2823Asn)
c.7374A>C (p.Lys2458Asn)
c.3558A>C (p.Lys1186Asn)
c.3111A>C (p.Lys1037Asn)
c.2448A>C (p.Lys816Asn)
c.6963A>C (p.Lys2321Asn)
n.8486A>C
5g.13792081T=CA1528440957DNAH5c.8361A= (p.Lys2787=)
c.8316A= (p.Lys2772=)
n.8568A=
c.8469A= (p.Lys2823=)
c.7374A= (p.Lys2458=)
c.3558A= (p.Lys1186=)
c.3111A= (p.Lys1037=)
c.2448A= (p.Lys816=)
c.6963A= (p.Lys2321=)
n.8486A=
5g.13792084dupCA2695204157DNAH5c.8361dup (p.Phe2788IlefsTer6)
c.8316dup (p.Phe2773IlefsTer6)
n.8568dup
c.8469dup (p.Phe2824IlefsTer6)
c.7374dup (p.Phe2459IlefsTer6)
c.3558dup (p.Phe1187IlefsTer6)
c.3111dup (p.Phe1038IlefsTer6)
c.2448dup (p.Phe817IlefsTer6)
c.6963dup (p.Phe2322IlefsTer6)
n.8486dup
5g.13792081_13792082insACA1139771924DNAH5c.8360_8361insT (p.Lys2787AsnfsTer7)
c.8315_8316insT (p.Lys2772AsnfsTer7)
n.8567_8568insT
c.8468_8469insT (p.Lys2823AsnfsTer7)
c.7373_7374insT (p.Lys2458AsnfsTer7)
c.3557_3558insT (p.Lys1186AsnfsTer7)
c.3110_3111insT (p.Lys1037AsnfsTer7)
c.2447_2448insT (p.Lys816AsnfsTer7)
c.6962_6963insT (p.Lys2321AsnfsTer7)
n.8485_8486insT
 ClinVar dbSNP gnomAD v4
5g.13792082T>ACA359219168DNAH5c.8360A>T (p.Lys2787Ile)
c.8315A>T (p.Lys2772Ile)
n.8567A>T
c.8468A>T (p.Lys2823Ile)
c.7373A>T (p.Lys2458Ile)
c.3557A>T (p.Lys1186Ile)
c.3110A>T (p.Lys1037Ile)
c.2447A>T (p.Lys816Ile)
c.6962A>T (p.Lys2321Ile)
n.8485A>T
5g.13792082T>CCA359219169DNAH5c.8360A>G (p.Lys2787Arg)
c.8315A>G (p.Lys2772Arg)
n.8567A>G
c.8468A>G (p.Lys2823Arg)
c.7373A>G (p.Lys2458Arg)
c.3557A>G (p.Lys1186Arg)
c.3110A>G (p.Lys1037Arg)
c.2447A>G (p.Lys816Arg)
c.6962A>G (p.Lys2321Arg)
n.8485A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13792082T>GCA359219172DNAH5c.8360A>C (p.Lys2787Thr)
c.8315A>C (p.Lys2772Thr)
n.8567A>C
c.8468A>C (p.Lys2823Thr)
c.7373A>C (p.Lys2458Thr)
c.3557A>C (p.Lys1186Thr)
c.3110A>C (p.Lys1037Thr)
c.2447A>C (p.Lys816Thr)
c.6962A>C (p.Lys2321Thr)
n.8485A>C
5g.13792082T=CA1528440958DNAH5c.8360A= (p.Lys2787=)
c.8315A= (p.Lys2772=)
n.8567A=
c.8468A= (p.Lys2823=)
c.7373A= (p.Lys2458=)
c.3557A= (p.Lys1186=)
c.3110A= (p.Lys1037=)
c.2447A= (p.Lys816=)
c.6962A= (p.Lys2321=)
n.8485A=
5g.13792083T>ACA359219174DNAH5c.8359A>T (p.Lys2787Ter)
c.8314A>T (p.Lys2772Ter)
n.8566A>T
c.8467A>T (p.Lys2823Ter)
c.7372A>T (p.Lys2458Ter)
c.3556A>T (p.Lys1186Ter)
c.3109A>T (p.Lys1037Ter)
c.2446A>T (p.Lys816Ter)
c.6961A>T (p.Lys2321Ter)
n.8484A>T
5g.13792083T>CCA359219176DNAH5c.8359A>G (p.Lys2787Glu)
c.8314A>G (p.Lys2772Glu)
n.8566A>G
c.8467A>G (p.Lys2823Glu)
c.7372A>G (p.Lys2458Glu)
c.3556A>G (p.Lys1186Glu)
c.3109A>G (p.Lys1037Glu)
c.2446A>G (p.Lys816Glu)
c.6961A>G (p.Lys2321Glu)
n.8484A>G
 gnomAD v4
5g.13792083T>GCA359219180DNAH5c.8359A>C (p.Lys2787Gln)
c.8314A>C (p.Lys2772Gln)
n.8566A>C
c.8467A>C (p.Lys2823Gln)
c.7372A>C (p.Lys2458Gln)
c.3556A>C (p.Lys1186Gln)
c.3109A>C (p.Lys1037Gln)
c.2446A>C (p.Lys816Gln)
c.6961A>C (p.Lys2321Gln)
n.8484A>C
 COSMIC
5g.13792084T>ACA443263427DNAH5c.8358A>T (p.Ala2786=)
c.8313A>T (p.Ala2771=)
n.8565A>T
c.8466A>T (p.Ala2822=)
c.7371A>T (p.Ala2457=)
c.3555A>T (p.Ala1185=)
c.3108A>T (p.Ala1036=)
c.2445A>T (p.Ala815=)
c.6960A>T (p.Ala2320=)
n.8483A>T
5g.13792084T>CCA443263428DNAH5c.8358A>G (p.Ala2786=)
c.8313A>G (p.Ala2771=)
n.8565A>G
c.8466A>G (p.Ala2822=)
c.7371A>G (p.Ala2457=)
c.3555A>G (p.Ala1185=)
c.3108A>G (p.Ala1036=)
c.2445A>G (p.Ala815=)
c.6960A>G (p.Ala2320=)
n.8483A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792084T>GCA443263429DNAH5c.8358A>C (p.Ala2786=)
c.8313A>C (p.Ala2771=)
n.8565A>C
c.8466A>C (p.Ala2822=)
c.7371A>C (p.Ala2457=)
c.3555A>C (p.Ala1185=)
c.3108A>C (p.Ala1036=)
c.2445A>C (p.Ala815=)
c.6960A>C (p.Ala2320=)
n.8483A>C
5g.13792084T=CA1528440959DNAH5c.8358A= (p.Ala2786=)
c.8313A= (p.Ala2771=)
n.8565A=
c.8466A= (p.Ala2822=)
c.7371A= (p.Ala2457=)
c.3555A= (p.Ala1185=)
c.3108A= (p.Ala1036=)
c.2445A= (p.Ala815=)
c.6960A= (p.Ala2320=)
n.8483A=
5g.13792085G>ACA359219186DNAH5c.8357C>T (p.Ala2786Val)
c.8312C>T (p.Ala2771Val)
n.8564C>T
c.8465C>T (p.Ala2822Val)
c.7370C>T (p.Ala2457Val)
c.3554C>T (p.Ala1185Val)
c.3107C>T (p.Ala1036Val)
c.2444C>T (p.Ala815Val)
c.6959C>T (p.Ala2320Val)
n.8482C>T
5g.13792085G>CCA359219183DNAH5c.8357C>G (p.Ala2786Gly)
c.8312C>G (p.Ala2771Gly)
n.8564C>G
c.8465C>G (p.Ala2822Gly)
c.7370C>G (p.Ala2457Gly)
c.3554C>G (p.Ala1185Gly)
c.3107C>G (p.Ala1036Gly)
c.2444C>G (p.Ala815Gly)
c.6959C>G (p.Ala2320Gly)
n.8482C>G
 COSMIC
5g.13792085G>TCA359219185DNAH5c.8357C>A (p.Ala2786Glu)
c.8312C>A (p.Ala2771Glu)
n.8564C>A
c.8465C>A (p.Ala2822Glu)
c.7370C>A (p.Ala2457Glu)
c.3554C>A (p.Ala1185Glu)
c.3107C>A (p.Ala1036Glu)
c.2444C>A (p.Ala815Glu)
c.6959C>A (p.Ala2320Glu)
n.8482C>A
5g.13792086C>ACA359219187DNAH5c.8356G>T (p.Ala2786Ser)
c.8311G>T (p.Ala2771Ser)
n.8563G>T
c.8464G>T (p.Ala2822Ser)
c.7369G>T (p.Ala2457Ser)
c.3553G>T (p.Ala1185Ser)
c.3106G>T (p.Ala1036Ser)
c.2443G>T (p.Ala815Ser)
c.6958G>T (p.Ala2320Ser)
n.8481G>T
5g.13792086C>GCA359219189DNAH5c.8356G>C (p.Ala2786Pro)
c.8311G>C (p.Ala2771Pro)
n.8563G>C
c.8464G>C (p.Ala2822Pro)
c.7369G>C (p.Ala2457Pro)
c.3553G>C (p.Ala1185Pro)
c.3106G>C (p.Ala1036Pro)
c.2443G>C (p.Ala815Pro)
c.6958G>C (p.Ala2320Pro)
n.8481G>C
5g.13792086C>TCA359219192DNAH5c.8356G>A (p.Ala2786Thr)
c.8311G>A (p.Ala2771Thr)
n.8563G>A
c.8464G>A (p.Ala2822Thr)
c.7369G>A (p.Ala2457Thr)
c.3553G>A (p.Ala1185Thr)
c.3106G>A (p.Ala1036Thr)
c.2443G>A (p.Ala815Thr)
c.6958G>A (p.Ala2320Thr)
n.8481G>A
5g.13792087A=CA1528440960DNAH5c.8355T= (p.Pro2785=)
c.8310T= (p.Pro2770=)
n.8562T=
c.8463T= (p.Pro2821=)
c.7368T= (p.Pro2456=)
c.3552T= (p.Pro1184=)
c.3105T= (p.Pro1035=)
c.2442T= (p.Pro814=)
c.6957T= (p.Pro2319=)
n.8480T=
5g.13792087A>CCA443263432DNAH5c.8355T>G (p.Pro2785=)
c.8310T>G (p.Pro2770=)
n.8562T>G
c.8463T>G (p.Pro2821=)
c.7368T>G (p.Pro2456=)
c.3552T>G (p.Pro1184=)
c.3105T>G (p.Pro1035=)
c.2442T>G (p.Pro814=)
c.6957T>G (p.Pro2319=)
n.8480T>G
 dbSNP gnomAD v3 gnomAD v4
5g.13792087A>GCA443263431DNAH5c.8355T>C (p.Pro2785=)
c.8310T>C (p.Pro2770=)
n.8562T>C
c.8463T>C (p.Pro2821=)
c.7368T>C (p.Pro2456=)
c.3552T>C (p.Pro1184=)
c.3105T>C (p.Pro1035=)
c.2442T>C (p.Pro814=)
c.6957T>C (p.Pro2319=)
n.8480T>C
5g.13792087A>TCA443263430DNAH5c.8355T>A (p.Pro2785=)
c.8310T>A (p.Pro2770=)
n.8562T>A
c.8463T>A (p.Pro2821=)
c.7368T>A (p.Pro2456=)
c.3552T>A (p.Pro1184=)
c.3105T>A (p.Pro1035=)
c.2442T>A (p.Pro814=)
c.6957T>A (p.Pro2319=)
n.8480T>A
 gnomAD v4
5g.13792088G>ACA359219193DNAH5c.8354C>T (p.Pro2785Leu)
c.8309C>T (p.Pro2770Leu)
n.8561C>T
c.8462C>T (p.Pro2821Leu)
c.7367C>T (p.Pro2456Leu)
c.3551C>T (p.Pro1184Leu)
c.3104C>T (p.Pro1035Leu)
c.2441C>T (p.Pro814Leu)
c.6956C>T (p.Pro2319Leu)
n.8479C>T
5g.13792088G>CCA359219195DNAH5c.8354C>G (p.Pro2785Arg)
c.8309C>G (p.Pro2770Arg)
n.8561C>G
c.8462C>G (p.Pro2821Arg)
c.7367C>G (p.Pro2456Arg)
c.3551C>G (p.Pro1184Arg)
c.3104C>G (p.Pro1035Arg)
c.2441C>G (p.Pro814Arg)
c.6956C>G (p.Pro2319Arg)
n.8479C>G
5g.13792088G>TCA359219197DNAH5c.8354C>A (p.Pro2785His)
c.8309C>A (p.Pro2770His)
n.8561C>A
c.8462C>A (p.Pro2821His)
c.7367C>A (p.Pro2456His)
c.3551C>A (p.Pro1184His)
c.3104C>A (p.Pro1035His)
c.2441C>A (p.Pro814His)
c.6956C>A (p.Pro2319His)
n.8479C>A
5g.13792089G>ACA359219200DNAH5c.8353C>T (p.Pro2785Ser)
c.8308C>T (p.Pro2770Ser)
n.8560C>T
c.8461C>T (p.Pro2821Ser)
c.7366C>T (p.Pro2456Ser)
c.3550C>T (p.Pro1184Ser)
c.3103C>T (p.Pro1035Ser)
c.2440C>T (p.Pro814Ser)
c.6955C>T (p.Pro2319Ser)
n.8478C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13792089G>CCA359219202DNAH5c.8353C>G (p.Pro2785Ala)
c.8308C>G (p.Pro2770Ala)
n.8560C>G
c.8461C>G (p.Pro2821Ala)
c.7366C>G (p.Pro2456Ala)
c.3550C>G (p.Pro1184Ala)
c.3103C>G (p.Pro1035Ala)
c.2440C>G (p.Pro814Ala)
c.6955C>G (p.Pro2319Ala)
n.8478C>G
5g.13792089G=CA1528440961DNAH5c.8353C= (p.Pro2785=)
c.8308C= (p.Pro2770=)
n.8560C=
c.8461C= (p.Pro2821=)
c.7366C= (p.Pro2456=)
c.3550C= (p.Pro1184=)
c.3103C= (p.Pro1035=)
c.2440C= (p.Pro814=)
c.6955C= (p.Pro2319=)
n.8478C=
5g.13792089G>TCA359219203DNAH5c.8353C>A (p.Pro2785Thr)
c.8308C>A (p.Pro2770Thr)
n.8560C>A
c.8461C>A (p.Pro2821Thr)
c.7366C>A (p.Pro2456Thr)
c.3550C>A (p.Pro1184Thr)
c.3103C>A (p.Pro1035Thr)
c.2440C>A (p.Pro814Thr)
c.6955C>A (p.Pro2319Thr)
n.8478C>A
5g.13792090G>ACA443263433DNAH5c.8352C>T (p.Thr2784=)
c.8307C>T (p.Thr2769=)
n.8559C>T
c.8460C>T (p.Thr2820=)
c.7365C>T (p.Thr2455=)
c.3549C>T (p.Thr1183=)
c.3102C>T (p.Thr1034=)
c.2439C>T (p.Thr813=)
c.6954C>T (p.Thr2318=)
n.8477C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13792090G>CCA443263434DNAH5c.8352C>G (p.Thr2784=)
c.8307C>G (p.Thr2769=)
n.8559C>G
c.8460C>G (p.Thr2820=)
c.7365C>G (p.Thr2455=)
c.3549C>G (p.Thr1183=)
c.3102C>G (p.Thr1034=)
c.2439C>G (p.Thr813=)
c.6954C>G (p.Thr2318=)
n.8477C>G
5g.13792090G=CA1528440962DNAH5c.8352C= (p.Thr2784=)
c.8307C= (p.Thr2769=)
n.8559C=
c.8460C= (p.Thr2820=)
c.7365C= (p.Thr2455=)
c.3549C= (p.Thr1183=)
c.3102C= (p.Thr1034=)
c.2439C= (p.Thr813=)
c.6954C= (p.Thr2318=)
n.8477C=
5g.13792090G>TCA443263435DNAH5c.8352C>A (p.Thr2784=)
c.8307C>A (p.Thr2769=)
n.8559C>A
c.8460C>A (p.Thr2820=)
c.7365C>A (p.Thr2455=)
c.3549C>A (p.Thr1183=)
c.3102C>A (p.Thr1034=)
c.2439C>A (p.Thr813=)
c.6954C>A (p.Thr2318=)
n.8477C>A
5g.13792091G>ACA359219205DNAH5c.8351C>T (p.Thr2784Ile)
c.8306C>T (p.Thr2769Ile)
n.8558C>T
c.8459C>T (p.Thr2820Ile)
c.7364C>T (p.Thr2455Ile)
c.3548C>T (p.Thr1183Ile)
c.3101C>T (p.Thr1034Ile)
c.2438C>T (p.Thr813Ile)
c.6953C>T (p.Thr2318Ile)
n.8476C>T
 dbSNP COSMIC
5g.13792091G>CCA359219207DNAH5c.8351C>G (p.Thr2784Ser)
c.8306C>G (p.Thr2769Ser)
n.8558C>G
c.8459C>G (p.Thr2820Ser)
c.7364C>G (p.Thr2455Ser)
c.3548C>G (p.Thr1183Ser)
c.3101C>G (p.Thr1034Ser)
c.2438C>G (p.Thr813Ser)
c.6953C>G (p.Thr2318Ser)
n.8476C>G
5g.13792091G=CA1528440963DNAH5c.8351C= (p.Thr2784=)
c.8306C= (p.Thr2769=)
n.8558C=
c.8459C= (p.Thr2820=)
c.7364C= (p.Thr2455=)
c.3548C= (p.Thr1183=)
c.3101C= (p.Thr1034=)
c.2438C= (p.Thr813=)
c.6953C= (p.Thr2318=)
n.8476C=
5g.13792091G>TCA359219208DNAH5c.8351C>A (p.Thr2784Asn)
c.8306C>A (p.Thr2769Asn)
n.8558C>A
c.8459C>A (p.Thr2820Asn)
c.7364C>A (p.Thr2455Asn)
c.3548C>A (p.Thr1183Asn)
c.3101C>A (p.Thr1034Asn)
c.2438C>A (p.Thr813Asn)
c.6953C>A (p.Thr2318Asn)
n.8476C>A
5g.13792092T>ACA359219210DNAH5c.8350A>T (p.Thr2784Ser)
c.8305A>T (p.Thr2769Ser)
n.8557A>T
c.8458A>T (p.Thr2820Ser)
c.7363A>T (p.Thr2455Ser)
c.3547A>T (p.Thr1183Ser)
c.3100A>T (p.Thr1034Ser)
c.2437A>T (p.Thr813Ser)
c.6952A>T (p.Thr2318Ser)
n.8475A>T
5g.13792092T>CCA359219213DNAH5c.8350A>G (p.Thr2784Ala)
c.8305A>G (p.Thr2769Ala)
n.8557A>G
c.8458A>G (p.Thr2820Ala)
c.7363A>G (p.Thr2455Ala)
c.3547A>G (p.Thr1183Ala)
c.3100A>G (p.Thr1034Ala)
c.2437A>G (p.Thr813Ala)
c.6952A>G (p.Thr2318Ala)
n.8475A>G
 dbSNP gnomAD v4
5g.13792092T>GCA359219212DNAH5c.8350A>C (p.Thr2784Pro)
c.8305A>C (p.Thr2769Pro)
n.8557A>C
c.8458A>C (p.Thr2820Pro)
c.7363A>C (p.Thr2455Pro)
c.3547A>C (p.Thr1183Pro)
c.3100A>C (p.Thr1034Pro)
c.2437A>C (p.Thr813Pro)
c.6952A>C (p.Thr2318Pro)
n.8475A>C
5g.13792092T=CA1528440964DNAH5c.8350A= (p.Thr2784=)
c.8305A= (p.Thr2769=)
n.8557A=
c.8458A= (p.Thr2820=)
c.7363A= (p.Thr2455=)
c.3547A= (p.Thr1183=)
c.3100A= (p.Thr1034=)
c.2437A= (p.Thr813=)
c.6952A= (p.Thr2318=)
n.8475A=
5g.13792093A>CCA443263437DNAH5c.8349T>G (p.Pro2783=)
c.8304T>G (p.Pro2768=)
n.8556T>G
c.8457T>G (p.Pro2819=)
c.7362T>G (p.Pro2454=)
c.3546T>G (p.Pro1182=)
c.3099T>G (p.Pro1033=)
c.2436T>G (p.Pro812=)
c.6951T>G (p.Pro2317=)
n.8474T>G
5g.13792093A>GCA443263438DNAH5c.8349T>C (p.Pro2783=)
c.8304T>C (p.Pro2768=)
n.8556T>C
c.8457T>C (p.Pro2819=)
c.7362T>C (p.Pro2454=)
c.3546T>C (p.Pro1182=)
c.3099T>C (p.Pro1033=)
c.2436T>C (p.Pro812=)
c.6951T>C (p.Pro2317=)
n.8474T>C
 gnomAD v4
5g.13792093A>TCA443263439DNAH5c.8349T>A (p.Pro2783=)
c.8304T>A (p.Pro2768=)
n.8556T>A
c.8457T>A (p.Pro2819=)
c.7362T>A (p.Pro2454=)
c.3546T>A (p.Pro1182=)
c.3099T>A (p.Pro1033=)
c.2436T>A (p.Pro812=)
c.6951T>A (p.Pro2317=)
n.8474T>A
5g.13792094G>ACA359219215DNAH5c.8348C>T (p.Pro2783Leu)
c.8303C>T (p.Pro2768Leu)
n.8555C>T
c.8456C>T (p.Pro2819Leu)
c.7361C>T (p.Pro2454Leu)
c.3545C>T (p.Pro1182Leu)
c.3098C>T (p.Pro1033Leu)
c.2435C>T (p.Pro812Leu)
c.6950C>T (p.Pro2317Leu)
n.8473C>T
 gnomAD v4
5g.13792094G>CCA359219217DNAH5c.8348C>G (p.Pro2783Arg)
c.8303C>G (p.Pro2768Arg)
n.8555C>G
c.8456C>G (p.Pro2819Arg)
c.7361C>G (p.Pro2454Arg)
c.3545C>G (p.Pro1182Arg)
c.3098C>G (p.Pro1033Arg)
c.2435C>G (p.Pro812Arg)
c.6950C>G (p.Pro2317Arg)
n.8473C>G
 dbSNP gnomAD v4
5g.13792094G=CA1528440965DNAH5c.8348C= (p.Pro2783=)
c.8303C= (p.Pro2768=)
n.8555C=
c.8456C= (p.Pro2819=)
c.7361C= (p.Pro2454=)
c.3545C= (p.Pro1182=)
c.3098C= (p.Pro1033=)
c.2435C= (p.Pro812=)
c.6950C= (p.Pro2317=)
n.8473C=
5g.13792094G>TCA359219219DNAH5c.8348C>A (p.Pro2783His)
c.8303C>A (p.Pro2768His)
n.8555C>A
c.8456C>A (p.Pro2819His)
c.7361C>A (p.Pro2454His)
c.3545C>A (p.Pro1182His)
c.3098C>A (p.Pro1033His)
c.2435C>A (p.Pro812His)
c.6950C>A (p.Pro2317His)
n.8473C>A
5g.13792095G>ACA359219220DNAH5c.8347C>T (p.Pro2783Ser)
c.8302C>T (p.Pro2768Ser)
n.8554C>T
c.8455C>T (p.Pro2819Ser)
c.7360C>T (p.Pro2454Ser)
c.3544C>T (p.Pro1182Ser)
c.3097C>T (p.Pro1033Ser)
c.2434C>T (p.Pro812Ser)
c.6949C>T (p.Pro2317Ser)
n.8472C>T
 gnomAD v4
5g.13792095G>CCA113960110DNAH5c.8347C>G (p.Pro2783Ala)
c.8302C>G (p.Pro2768Ala)
n.8554C>G
c.8455C>G (p.Pro2819Ala)
c.7360C>G (p.Pro2454Ala)
c.3544C>G (p.Pro1182Ala)
c.3097C>G (p.Pro1033Ala)
c.2434C>G (p.Pro812Ala)
c.6949C>G (p.Pro2317Ala)
n.8472C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13792095G=CA1528440966DNAH5c.8347C= (p.Pro2783=)
c.8302C= (p.Pro2768=)
n.8554C=
c.8455C= (p.Pro2819=)
c.7360C= (p.Pro2454=)
c.3544C= (p.Pro1182=)
c.3097C= (p.Pro1033=)
c.2434C= (p.Pro812=)
c.6949C= (p.Pro2317=)
n.8472C=
5g.13792095G>TCA359219221DNAH5c.8347C>A (p.Pro2783Thr)
c.8302C>A (p.Pro2768Thr)
n.8554C>A
c.8455C>A (p.Pro2819Thr)
c.7360C>A (p.Pro2454Thr)
c.3544C>A (p.Pro1182Thr)
c.3097C>A (p.Pro1033Thr)
c.2434C>A (p.Pro812Thr)
c.6949C>A (p.Pro2317Thr)
n.8472C>A
5g.13792096A>CCA443263440DNAH5c.8346T>G (p.Leu2782=)
c.8301T>G (p.Leu2767=)
n.8553T>G
c.8454T>G (p.Leu2818=)
c.7359T>G (p.Leu2453=)
c.3543T>G (p.Leu1181=)
c.3096T>G (p.Leu1032=)
c.2433T>G (p.Leu811=)
c.6948T>G (p.Leu2316=)
n.8471T>G
5g.13792096A>GCA443263441DNAH5c.8346T>C (p.Leu2782=)
c.8301T>C (p.Leu2767=)
n.8553T>C
c.8454T>C (p.Leu2818=)
c.7359T>C (p.Leu2453=)
c.3543T>C (p.Leu1181=)
c.3096T>C (p.Leu1032=)
c.2433T>C (p.Leu811=)
c.6948T>C (p.Leu2316=)
n.8471T>C
5g.13792096A>TCA443263442DNAH5c.8346T>A (p.Leu2782=)
c.8301T>A (p.Leu2767=)
n.8553T>A
c.8454T>A (p.Leu2818=)
c.7359T>A (p.Leu2453=)
c.3543T>A (p.Leu1181=)
c.3096T>A (p.Leu1032=)
c.2433T>A (p.Leu811=)
c.6948T>A (p.Leu2316=)
n.8471T>A
5g.13792097A>CCA359219222DNAH5c.8345T>G (p.Leu2782Arg)
c.8300T>G (p.Leu2767Arg)
n.8552T>G
c.8453T>G (p.Leu2818Arg)
c.7358T>G (p.Leu2453Arg)
c.3542T>G (p.Leu1181Arg)
c.3095T>G (p.Leu1032Arg)
c.2432T>G (p.Leu811Arg)
c.6947T>G (p.Leu2316Arg)
n.8470T>G
5g.13792097A>GCA359219224DNAH5c.8345T>C (p.Leu2782Pro)
c.8300T>C (p.Leu2767Pro)
n.8552T>C
c.8453T>C (p.Leu2818Pro)
c.7358T>C (p.Leu2453Pro)
c.3542T>C (p.Leu1181Pro)
c.3095T>C (p.Leu1032Pro)
c.2432T>C (p.Leu811Pro)
c.6947T>C (p.Leu2316Pro)
n.8470T>C
 gnomAD v4
5g.13792097A>TCA359219226DNAH5c.8345T>A (p.Leu2782His)
c.8300T>A (p.Leu2767His)
n.8552T>A
c.8453T>A (p.Leu2818His)
c.7358T>A (p.Leu2453His)
c.3542T>A (p.Leu1181His)
c.3095T>A (p.Leu1032His)
c.2432T>A (p.Leu811His)
c.6947T>A (p.Leu2316His)
n.8470T>A
5g.13792098G>ACA359219228DNAH5c.8344C>T (p.Leu2782Phe)
c.8299C>T (p.Leu2767Phe)
n.8551C>T
c.8452C>T (p.Leu2818Phe)
c.7357C>T (p.Leu2453Phe)
c.3541C>T (p.Leu1181Phe)
c.3094C>T (p.Leu1032Phe)
c.2431C>T (p.Leu811Phe)
c.6946C>T (p.Leu2316Phe)
n.8469C>T
 dbSNP gnomAD v4
5g.13792098G>CCA359219230DNAH5c.8344C>G (p.Leu2782Val)
c.8299C>G (p.Leu2767Val)
n.8551C>G
c.8452C>G (p.Leu2818Val)
c.7357C>G (p.Leu2453Val)
c.3541C>G (p.Leu1181Val)
c.3094C>G (p.Leu1032Val)
c.2431C>G (p.Leu811Val)
c.6946C>G (p.Leu2316Val)
n.8469C>G
5g.13792098G=CA1528440967DNAH5c.8344C= (p.Leu2782=)
c.8299C= (p.Leu2767=)
n.8551C=
c.8452C= (p.Leu2818=)
c.7357C= (p.Leu2453=)
c.3541C= (p.Leu1181=)
c.3094C= (p.Leu1032=)
c.2431C= (p.Leu811=)
c.6946C= (p.Leu2316=)
n.8469C=
5g.13792098G>TCA359219232DNAH5c.8344C>A (p.Leu2782Ile)
c.8299C>A (p.Leu2767Ile)
n.8551C>A
c.8452C>A (p.Leu2818Ile)
c.7357C>A (p.Leu2453Ile)
c.3541C>A (p.Leu1181Ile)
c.3094C>A (p.Leu1032Ile)
c.2431C>A (p.Leu811Ile)
c.6946C>A (p.Leu2316Ile)
n.8469C>A
5g.13792099C>ACA359219237DNAH5c.8343G>T (p.Met2781Ile)
c.8298G>T (p.Met2766Ile)
n.8550G>T
c.8451G>T (p.Met2817Ile)
c.7356G>T (p.Met2452Ile)
c.3540G>T (p.Met1180Ile)
c.3093G>T (p.Met1031Ile)
c.2430G>T (p.Met810Ile)
c.6945G>T (p.Met2315Ile)
n.8468G>T
 dbSNP gnomAD v3 gnomAD v4
5g.13792099C=CA1528440968DNAH5c.8343G= (p.Met2781=)
c.8298G= (p.Met2766=)
n.8550G=
c.8451G= (p.Met2817=)
c.7356G= (p.Met2452=)
c.3540G= (p.Met1180=)
c.3093G= (p.Met1031=)
c.2430G= (p.Met810=)
c.6945G= (p.Met2315=)
n.8468G=
5g.13792099C>GCA3202838DNAH5c.8343G>C (p.Met2781Ile)
c.8298G>C (p.Met2766Ile)
n.8550G>C
c.8451G>C (p.Met2817Ile)
c.7356G>C (p.Met2452Ile)
c.3540G>C (p.Met1180Ile)
c.3093G>C (p.Met1031Ile)
c.2430G>C (p.Met810Ile)
c.6945G>C (p.Met2315Ile)
n.8468G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792099C>TCA359219235DNAH5c.8343G>A (p.Met2781Ile)
c.8298G>A (p.Met2766Ile)
n.8550G>A
c.8451G>A (p.Met2817Ile)
c.7356G>A (p.Met2452Ile)
c.3540G>A (p.Met1180Ile)
c.3093G>A (p.Met1031Ile)
c.2430G>A (p.Met810Ile)
c.6945G>A (p.Met2315Ile)
n.8468G>A
5g.13792100A>CCA359219239DNAH5c.8342T>G (p.Met2781Arg)
c.8297T>G (p.Met2766Arg)
n.8549T>G
c.8450T>G (p.Met2817Arg)
c.7355T>G (p.Met2452Arg)
c.3539T>G (p.Met1180Arg)
c.3092T>G (p.Met1031Arg)
c.2429T>G (p.Met810Arg)
c.6944T>G (p.Met2315Arg)
n.8467T>G
5g.13792100A>GCA359219241DNAH5c.8342T>C (p.Met2781Thr)
c.8297T>C (p.Met2766Thr)
n.8549T>C
c.8450T>C (p.Met2817Thr)
c.7355T>C (p.Met2452Thr)
c.3539T>C (p.Met1180Thr)
c.3092T>C (p.Met1031Thr)
c.2429T>C (p.Met810Thr)
c.6944T>C (p.Met2315Thr)
n.8467T>C
5g.13792100A>TCA359219243DNAH5c.8342T>A (p.Met2781Lys)
c.8297T>A (p.Met2766Lys)
n.8549T>A
c.8450T>A (p.Met2817Lys)
c.7355T>A (p.Met2452Lys)
c.3539T>A (p.Met1180Lys)
c.3092T>A (p.Met1031Lys)
c.2429T>A (p.Met810Lys)
c.6944T>A (p.Met2315Lys)
n.8467T>A
5g.13792101T>ACA359219244DNAH5c.8341A>T (p.Met2781Leu)
c.8296A>T (p.Met2766Leu)
n.8548A>T
c.8449A>T (p.Met2817Leu)
c.7354A>T (p.Met2452Leu)
c.3538A>T (p.Met1180Leu)
c.3091A>T (p.Met1031Leu)
c.2428A>T (p.Met810Leu)
c.6943A>T (p.Met2315Leu)
n.8466A>T
5g.13792101T>CCA359219245DNAH5c.8341A>G (p.Met2781Val)
c.8296A>G (p.Met2766Val)
n.8548A>G
c.8449A>G (p.Met2817Val)
c.7354A>G (p.Met2452Val)
c.3538A>G (p.Met1180Val)
c.3091A>G (p.Met1031Val)
c.2428A>G (p.Met810Val)
c.6943A>G (p.Met2315Val)
n.8466A>G
5g.13792101T>GCA359219247DNAH5c.8341A>C (p.Met2781Leu)
c.8296A>C (p.Met2766Leu)
n.8548A>C
c.8449A>C (p.Met2817Leu)
c.7354A>C (p.Met2452Leu)
c.3538A>C (p.Met1180Leu)
c.3091A>C (p.Met1031Leu)
c.2428A>C (p.Met810Leu)
c.6943A>C (p.Met2315Leu)
n.8466A>C
5g.13792104delCA2739274579DNAH5c.8341del (p.Met2781CysfsTer25)
c.8296del (p.Met2766CysfsTer25)
n.8548del
c.8449del (p.Met2817CysfsTer25)
c.7354del (p.Met2452CysfsTer25)
c.3538del (p.Met1180CysfsTer25)
c.3091del (p.Met1031CysfsTer25)
c.2428del (p.Met810CysfsTer25)
c.6943del (p.Met2315CysfsTer25)
n.8466del
 ClinVar
5g.13792103_13792104delCA2580072137DNAH5c.8340_8341del (p.Lys2780AsnfsTer13)
c.8295_8296del (p.Lys2765AsnfsTer13)
n.8547_8548del
c.8448_8449del (p.Lys2816AsnfsTer13)
c.7353_7354del (p.Lys2451AsnfsTer13)
c.3537_3538del (p.Lys1179AsnfsTer13)
c.3090_3091del (p.Lys1030AsnfsTer13)
c.2427_2428del (p.Lys809AsnfsTer13)
c.6942_6943del (p.Lys2314AsnfsTer13)
n.8465_8466del
 ClinVar
5g.13792102T>ACA359219248DNAH5c.8340A>T (p.Lys2780Asn)
c.8295A>T (p.Lys2765Asn)
n.8547A>T
c.8448A>T (p.Lys2816Asn)
c.7353A>T (p.Lys2451Asn)
c.3537A>T (p.Lys1179Asn)
c.3090A>T (p.Lys1030Asn)
c.2427A>T (p.Lys809Asn)
c.6942A>T (p.Lys2314Asn)
n.8465A>T
 COSMIC
5g.13792102T>CCA443263443DNAH5c.8340A>G (p.Lys2780=)
c.8295A>G (p.Lys2765=)
n.8547A>G
c.8448A>G (p.Lys2816=)
c.7353A>G (p.Lys2451=)
c.3537A>G (p.Lys1179=)
c.3090A>G (p.Lys1030=)
c.2427A>G (p.Lys809=)
c.6942A>G (p.Lys2314=)
n.8465A>G
5g.13792102T>GCA359219249DNAH5c.8340A>C (p.Lys2780Asn)
c.8295A>C (p.Lys2765Asn)
n.8547A>C
c.8448A>C (p.Lys2816Asn)
c.7353A>C (p.Lys2451Asn)
c.3537A>C (p.Lys1179Asn)
c.3090A>C (p.Lys1030Asn)
c.2427A>C (p.Lys809Asn)
c.6942A>C (p.Lys2314Asn)
n.8465A>C
5g.13792103T>ACA359219251DNAH5c.8339A>T (p.Lys2780Ile)
c.8294A>T (p.Lys2765Ile)
n.8546A>T
c.8447A>T (p.Lys2816Ile)
c.7352A>T (p.Lys2451Ile)
c.3536A>T (p.Lys1179Ile)
c.3089A>T (p.Lys1030Ile)
c.2426A>T (p.Lys809Ile)
c.6941A>T (p.Lys2314Ile)
n.8464A>T
5g.13792103T>CCA359219253DNAH5c.8339A>G (p.Lys2780Arg)
c.8294A>G (p.Lys2765Arg)
n.8546A>G
c.8447A>G (p.Lys2816Arg)
c.7352A>G (p.Lys2451Arg)
c.3536A>G (p.Lys1179Arg)
c.3089A>G (p.Lys1030Arg)
c.2426A>G (p.Lys809Arg)
c.6941A>G (p.Lys2314Arg)
n.8464A>G
5g.13792103T>GCA359219254DNAH5c.8339A>C (p.Lys2780Thr)
c.8294A>C (p.Lys2765Thr)
n.8546A>C
c.8447A>C (p.Lys2816Thr)
c.7352A>C (p.Lys2451Thr)
c.3536A>C (p.Lys1179Thr)
c.3089A>C (p.Lys1030Thr)
c.2426A>C (p.Lys809Thr)
c.6941A>C (p.Lys2314Thr)
n.8464A>C
5g.13792104T>ACA359219259DNAH5c.8338A>T (p.Lys2780Ter)
c.8293A>T (p.Lys2765Ter)
n.8545A>T
c.8446A>T (p.Lys2816Ter)
c.7351A>T (p.Lys2451Ter)
c.3535A>T (p.Lys1179Ter)
c.3088A>T (p.Lys1030Ter)
c.2425A>T (p.Lys809Ter)
c.6940A>T (p.Lys2314Ter)
n.8463A>T
5g.13792104T>CCA359219257DNAH5c.8338A>G (p.Lys2780Glu)
c.8293A>G (p.Lys2765Glu)
n.8545A>G
c.8446A>G (p.Lys2816Glu)
c.7351A>G (p.Lys2451Glu)
c.3535A>G (p.Lys1179Glu)
c.3088A>G (p.Lys1030Glu)
c.2425A>G (p.Lys809Glu)
c.6940A>G (p.Lys2314Glu)
n.8463A>G
 gnomAD v4
5g.13792104T>GCA359219256DNAH5c.8338A>C (p.Lys2780Gln)
c.8293A>C (p.Lys2765Gln)
n.8545A>C
c.8446A>C (p.Lys2816Gln)
c.7351A>C (p.Lys2451Gln)
c.3535A>C (p.Lys1179Gln)
c.3088A>C (p.Lys1030Gln)
c.2425A>C (p.Lys809Gln)
c.6940A>C (p.Lys2314Gln)
n.8463A>C
5g.13792105A>CCA359219261DNAH5c.8337T>G (p.Ile2779Met)
c.8292T>G (p.Ile2764Met)
n.8544T>G
c.8445T>G (p.Ile2815Met)
c.7350T>G (p.Ile2450Met)
c.3534T>G (p.Ile1178Met)
c.3087T>G (p.Ile1029Met)
c.2424T>G (p.Ile808Met)
c.6939T>G (p.Ile2313Met)
n.8462T>G
5g.13792105A>GCA443263444DNAH5c.8337T>C (p.Ile2779=)
c.8292T>C (p.Ile2764=)
n.8544T>C
c.8445T>C (p.Ile2815=)
c.7350T>C (p.Ile2450=)
c.3534T>C (p.Ile1178=)
c.3087T>C (p.Ile1029=)
c.2424T>C (p.Ile808=)
c.6939T>C (p.Ile2313=)
n.8462T>C
5g.13792105A>TCA443263445DNAH5c.8337T>A (p.Ile2779=)
c.8292T>A (p.Ile2764=)
n.8544T>A
c.8445T>A (p.Ile2815=)
c.7350T>A (p.Ile2450=)
c.3534T>A (p.Ile1178=)
c.3087T>A (p.Ile1029=)
c.2424T>A (p.Ile808=)
c.6939T>A (p.Ile2313=)
n.8462T>A
5g.13792106A>CCA359219265DNAH5c.8336T>G (p.Ile2779Ser)
c.8291T>G (p.Ile2764Ser)
n.8543T>G
c.8444T>G (p.Ile2815Ser)
c.7349T>G (p.Ile2450Ser)
c.3533T>G (p.Ile1178Ser)
c.3086T>G (p.Ile1029Ser)
c.2423T>G (p.Ile808Ser)
c.6938T>G (p.Ile2313Ser)
n.8461T>G
5g.13792106A>GCA359219263DNAH5c.8336T>C (p.Ile2779Thr)
c.8291T>C (p.Ile2764Thr)
n.8543T>C
c.8444T>C (p.Ile2815Thr)
c.7349T>C (p.Ile2450Thr)
c.3533T>C (p.Ile1178Thr)
c.3086T>C (p.Ile1029Thr)
c.2423T>C (p.Ile808Thr)
c.6938T>C (p.Ile2313Thr)
n.8461T>C
5g.13792106A>TCA359219267DNAH5c.8336T>A (p.Ile2779Asn)
c.8291T>A (p.Ile2764Asn)
n.8543T>A
c.8444T>A (p.Ile2815Asn)
c.7349T>A (p.Ile2450Asn)
c.3533T>A (p.Ile1178Asn)
c.3086T>A (p.Ile1029Asn)
c.2423T>A (p.Ile808Asn)
c.6938T>A (p.Ile2313Asn)
n.8461T>A
 COSMIC
5g.13792107T>ACA359219269DNAH5c.8335A>T (p.Ile2779Phe)
c.8290A>T (p.Ile2764Phe)
n.8542A>T
c.8443A>T (p.Ile2815Phe)
c.7348A>T (p.Ile2450Phe)
c.3532A>T (p.Ile1178Phe)
c.3085A>T (p.Ile1029Phe)
c.2422A>T (p.Ile808Phe)
c.6937A>T (p.Ile2313Phe)
n.8460A>T
5g.13792107T>CCA359219271DNAH5c.8335A>G (p.Ile2779Val)
c.8290A>G (p.Ile2764Val)
n.8542A>G
c.8443A>G (p.Ile2815Val)
c.7348A>G (p.Ile2450Val)
c.3532A>G (p.Ile1178Val)
c.3085A>G (p.Ile1029Val)
c.2422A>G (p.Ile808Val)
c.6937A>G (p.Ile2313Val)
n.8460A>G
5g.13792107T>GCA113960132DNAH5c.8335A>C (p.Ile2779Leu)
c.8290A>C (p.Ile2764Leu)
n.8542A>C
c.8443A>C (p.Ile2815Leu)
c.7348A>C (p.Ile2450Leu)
c.3532A>C (p.Ile1178Leu)
c.3085A>C (p.Ile1029Leu)
c.2422A>C (p.Ile808Leu)
c.6937A>C (p.Ile2313Leu)
n.8460A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792107T=CA1528440969DNAH5c.8335A= (p.Ile2779=)
c.8290A= (p.Ile2764=)
n.8542A=
c.8443A= (p.Ile2815=)
c.7348A= (p.Ile2450=)
c.3532A= (p.Ile1178=)
c.3085A= (p.Ile1029=)
c.2422A= (p.Ile808=)
c.6937A= (p.Ile2313=)
n.8460A=
5g.13792108C>ACA359219275DNAH5c.8334G>T (p.Lys2778Asn)
c.8289G>T (p.Lys2763Asn)
n.8541G>T
c.8442G>T (p.Lys2814Asn)
c.7347G>T (p.Lys2449Asn)
c.3531G>T (p.Lys1177Asn)
c.3084G>T (p.Lys1028Asn)
c.2421G>T (p.Lys807Asn)
c.6936G>T (p.Lys2312Asn)
n.8459G>T
5g.13792108C>GCA359219276DNAH5c.8334G>C (p.Lys2778Asn)
c.8289G>C (p.Lys2763Asn)
n.8541G>C
c.8442G>C (p.Lys2814Asn)
c.7347G>C (p.Lys2449Asn)
c.3531G>C (p.Lys1177Asn)
c.3084G>C (p.Lys1028Asn)
c.2421G>C (p.Lys807Asn)
c.6936G>C (p.Lys2312Asn)
n.8459G>C
5g.13792108C>TCA443263446DNAH5c.8334G>A (p.Lys2778=)
c.8289G>A (p.Lys2763=)
n.8541G>A
c.8442G>A (p.Lys2814=)
c.7347G>A (p.Lys2449=)
c.3531G>A (p.Lys1177=)
c.3084G>A (p.Lys1028=)
c.2421G>A (p.Lys807=)
c.6936G>A (p.Lys2312=)
n.8459G>A
 ClinVar
5g.13792109T>ACA359219278DNAH5c.8333A>T (p.Lys2778Met)
c.8288A>T (p.Lys2763Met)
n.8540A>T
c.8441A>T (p.Lys2814Met)
c.7346A>T (p.Lys2449Met)
c.3530A>T (p.Lys1177Met)
c.3083A>T (p.Lys1028Met)
c.2420A>T (p.Lys807Met)
c.6935A>T (p.Lys2312Met)
n.8458A>T
5g.13792109T>CCA359219280DNAH5c.8333A>G (p.Lys2778Arg)
c.8288A>G (p.Lys2763Arg)
n.8540A>G
c.8441A>G (p.Lys2814Arg)
c.7346A>G (p.Lys2449Arg)
c.3530A>G (p.Lys1177Arg)
c.3083A>G (p.Lys1028Arg)
c.2420A>G (p.Lys807Arg)
c.6935A>G (p.Lys2312Arg)
n.8458A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792109T>GCA359219285DNAH5c.8333A>C (p.Lys2778Thr)
c.8288A>C (p.Lys2763Thr)
n.8540A>C
c.8441A>C (p.Lys2814Thr)
c.7346A>C (p.Lys2449Thr)
c.3530A>C (p.Lys1177Thr)
c.3083A>C (p.Lys1028Thr)
c.2420A>C (p.Lys807Thr)
c.6935A>C (p.Lys2312Thr)
n.8458A>C
5g.13792109T=CA1528440970DNAH5c.8333A= (p.Lys2778=)
c.8288A= (p.Lys2763=)
n.8540A=
c.8441A= (p.Lys2814=)
c.7346A= (p.Lys2449=)
c.3530A= (p.Lys1177=)
c.3083A= (p.Lys1028=)
c.2420A= (p.Lys807=)
c.6935A= (p.Lys2312=)
n.8458A=
5g.13792110T>ACA359219287DNAH5c.8332A>T (p.Lys2778Ter)
c.8287A>T (p.Lys2763Ter)
n.8539A>T
c.8440A>T (p.Lys2814Ter)
c.7345A>T (p.Lys2449Ter)
c.3529A>T (p.Lys1177Ter)
c.3082A>T (p.Lys1028Ter)
c.2419A>T (p.Lys807Ter)
c.6934A>T (p.Lys2312Ter)
n.8457A>T
5g.13792110T>CCA359219289DNAH5c.8332A>G (p.Lys2778Glu)
c.8287A>G (p.Lys2763Glu)
n.8539A>G
c.8440A>G (p.Lys2814Glu)
c.7345A>G (p.Lys2449Glu)
c.3529A>G (p.Lys1177Glu)
c.3082A>G (p.Lys1028Glu)
c.2419A>G (p.Lys807Glu)
c.6934A>G (p.Lys2312Glu)
n.8457A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13792110T>GCA3202839DNAH5c.8332A>C (p.Lys2778Gln)
c.8287A>C (p.Lys2763Gln)
n.8539A>C
c.8440A>C (p.Lys2814Gln)
c.7345A>C (p.Lys2449Gln)
c.3529A>C (p.Lys1177Gln)
c.3082A>C (p.Lys1028Gln)
c.2419A>C (p.Lys807Gln)
c.6934A>C (p.Lys2312Gln)
n.8457A>C
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.13792110T=CA1528440971DNAH5c.8332A= (p.Lys2778=)
c.8287A= (p.Lys2763=)
n.8539A=
c.8440A= (p.Lys2814=)
c.7345A= (p.Lys2449=)
c.3529A= (p.Lys1177=)
c.3082A= (p.Lys1028=)
c.2419A= (p.Lys807=)
c.6934A= (p.Lys2312=)
n.8457A=
5g.13792111G>ACA443263447DNAH5c.8331C>T (p.Thr2777=)
c.8286C>T (p.Thr2762=)
n.8538C>T
c.8439C>T (p.Thr2813=)
c.7344C>T (p.Thr2448=)
c.3528C>T (p.Thr1176=)
c.3081C>T (p.Thr1027=)
c.2418C>T (p.Thr806=)
c.6933C>T (p.Thr2311=)
n.8456C>T
 ClinVar
5g.13792111G>CCA443263448DNAH5c.8331C>G (p.Thr2777=)
c.8286C>G (p.Thr2762=)
n.8538C>G
c.8439C>G (p.Thr2813=)
c.7344C>G (p.Thr2448=)
c.3528C>G (p.Thr1176=)
c.3081C>G (p.Thr1027=)
c.2418C>G (p.Thr806=)
c.6933C>G (p.Thr2311=)
n.8456C>G
5g.13792111G=CA1528440972DNAH5c.8331C= (p.Thr2777=)
c.8286C= (p.Thr2762=)
n.8538C=
c.8439C= (p.Thr2813=)
c.7344C= (p.Thr2448=)
c.3528C= (p.Thr1176=)
c.3081C= (p.Thr1027=)
c.2418C= (p.Thr806=)
c.6933C= (p.Thr2311=)
n.8456C=
5g.13792111G>TCA3202840DNAH5c.8331C>A (p.Thr2777=)
c.8286C>A (p.Thr2762=)
n.8538C>A
c.8439C>A (p.Thr2813=)
c.7344C>A (p.Thr2448=)
c.3528C>A (p.Thr1176=)
c.3081C>A (p.Thr1027=)
c.2418C>A (p.Thr806=)
c.6933C>A (p.Thr2311=)
n.8456C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792112G>ACA359219298DNAH5c.8330C>T (p.Thr2777Ile)
c.8285C>T (p.Thr2762Ile)
n.8537C>T
c.8438C>T (p.Thr2813Ile)
c.7343C>T (p.Thr2448Ile)
c.3527C>T (p.Thr1176Ile)
c.3080C>T (p.Thr1027Ile)
c.2417C>T (p.Thr806Ile)
c.6932C>T (p.Thr2311Ile)
n.8455C>T
5g.13792112G>CCA359219293DNAH5c.8330C>G (p.Thr2777Ser)
c.8285C>G (p.Thr2762Ser)
n.8537C>G
c.8438C>G (p.Thr2813Ser)
c.7343C>G (p.Thr2448Ser)
c.3527C>G (p.Thr1176Ser)
c.3080C>G (p.Thr1027Ser)
c.2417C>G (p.Thr806Ser)
c.6932C>G (p.Thr2311Ser)
n.8455C>G
 gnomAD v4
5g.13792112G>TCA359219295DNAH5c.8330C>A (p.Thr2777Asn)
c.8285C>A (p.Thr2762Asn)
n.8537C>A
c.8438C>A (p.Thr2813Asn)
c.7343C>A (p.Thr2448Asn)
c.3527C>A (p.Thr1176Asn)
c.3080C>A (p.Thr1027Asn)
c.2417C>A (p.Thr806Asn)
c.6932C>A (p.Thr2311Asn)
n.8455C>A
5g.13792113T>ACA359219301DNAH5c.8329A>T (p.Thr2777Ser)
c.8284A>T (p.Thr2762Ser)
n.8536A>T
c.8437A>T (p.Thr2813Ser)
c.7342A>T (p.Thr2448Ser)
c.3526A>T (p.Thr1176Ser)
c.3079A>T (p.Thr1027Ser)
c.2416A>T (p.Thr806Ser)
c.6931A>T (p.Thr2311Ser)
n.8454A>T
 dbSNP
5g.13792113T>CCA359219303DNAH5c.8329A>G (p.Thr2777Ala)
c.8284A>G (p.Thr2762Ala)
n.8536A>G
c.8437A>G (p.Thr2813Ala)
c.7342A>G (p.Thr2448Ala)
c.3526A>G (p.Thr1176Ala)
c.3079A>G (p.Thr1027Ala)
c.2416A>G (p.Thr806Ala)
c.6931A>G (p.Thr2311Ala)
n.8454A>G
5g.13792113T>GCA359219304DNAH5c.8329A>C (p.Thr2777Pro)
c.8284A>C (p.Thr2762Pro)
n.8536A>C
c.8437A>C (p.Thr2813Pro)
c.7342A>C (p.Thr2448Pro)
c.3526A>C (p.Thr1176Pro)
c.3079A>C (p.Thr1027Pro)
c.2416A>C (p.Thr806Pro)
c.6931A>C (p.Thr2311Pro)
n.8454A>C
5g.13792114C>ACA359219306DNAH5c.8328G>T (p.Met2776Ile)
c.8283G>T (p.Met2761Ile)
n.8535G>T
c.8436G>T (p.Met2812Ile)
c.7341G>T (p.Met2447Ile)
c.3525G>T (p.Met1175Ile)
c.3078G>T (p.Met1026Ile)
c.2415G>T (p.Met805Ile)
c.6930G>T (p.Met2310Ile)
n.8453G>T
 gnomAD v4
5g.13792114C=CA1528440973DNAH5c.8328G= (p.Met2776=)
c.8283G= (p.Met2761=)
n.8535G=
c.8436G= (p.Met2812=)
c.7341G= (p.Met2447=)
c.3525G= (p.Met1175=)
c.3078G= (p.Met1026=)
c.2415G= (p.Met805=)
c.6930G= (p.Met2310=)
n.8453G=
5g.13792114C>GCA359219307DNAH5c.8328G>C (p.Met2776Ile)
c.8283G>C (p.Met2761Ile)
n.8535G>C
c.8436G>C (p.Met2812Ile)
c.7341G>C (p.Met2447Ile)
c.3525G>C (p.Met1175Ile)
c.3078G>C (p.Met1026Ile)
c.2415G>C (p.Met805Ile)
c.6930G>C (p.Met2310Ile)
n.8453G>C
5g.13792114C>TCA359219309DNAH5c.8328G>A (p.Met2776Ile)
c.8283G>A (p.Met2761Ile)
n.8535G>A
c.8436G>A (p.Met2812Ile)
c.7341G>A (p.Met2447Ile)
c.3525G>A (p.Met1175Ile)
c.3078G>A (p.Met1026Ile)
c.2415G>A (p.Met805Ile)
c.6930G>A (p.Met2310Ile)
n.8453G>A
 ClinVar dbSNP
5g.13792115A>CCA359219310DNAH5c.8327T>G (p.Met2776Arg)
c.8282T>G (p.Met2761Arg)
n.8534T>G
c.8435T>G (p.Met2812Arg)
c.7340T>G (p.Met2447Arg)
c.3524T>G (p.Met1175Arg)
c.3077T>G (p.Met1026Arg)
c.2414T>G (p.Met805Arg)
c.6929T>G (p.Met2310Arg)
n.8452T>G
5g.13792115A>GCA359219313DNAH5c.8327T>C (p.Met2776Thr)
c.8282T>C (p.Met2761Thr)
n.8534T>C
c.8435T>C (p.Met2812Thr)
c.7340T>C (p.Met2447Thr)
c.3524T>C (p.Met1175Thr)
c.3077T>C (p.Met1026Thr)
c.2414T>C (p.Met805Thr)
c.6929T>C (p.Met2310Thr)
n.8452T>C
5g.13792115A>TCA359219315DNAH5c.8327T>A (p.Met2776Lys)
c.8282T>A (p.Met2761Lys)
n.8534T>A
c.8435T>A (p.Met2812Lys)
c.7340T>A (p.Met2447Lys)
c.3524T>A (p.Met1175Lys)
c.3077T>A (p.Met1026Lys)
c.2414T>A (p.Met805Lys)
c.6929T>A (p.Met2310Lys)
n.8452T>A
5g.13792116T>ACA359219318DNAH5c.8326A>T (p.Met2776Leu)
c.8281A>T (p.Met2761Leu)
n.8533A>T
c.8434A>T (p.Met2812Leu)
c.7339A>T (p.Met2447Leu)
c.3523A>T (p.Met1175Leu)
c.3076A>T (p.Met1026Leu)
c.2413A>T (p.Met805Leu)
c.6928A>T (p.Met2310Leu)
n.8451A>T
 gnomAD v4
5g.13792116T>CCA359219320DNAH5c.8326A>G (p.Met2776Val)
c.8281A>G (p.Met2761Val)
n.8533A>G
c.8434A>G (p.Met2812Val)
c.7339A>G (p.Met2447Val)
c.3523A>G (p.Met1175Val)
c.3076A>G (p.Met1026Val)
c.2413A>G (p.Met805Val)
c.6928A>G (p.Met2310Val)
n.8451A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792116T>GCA359219321DNAH5c.8326A>C (p.Met2776Leu)
c.8281A>C (p.Met2761Leu)
n.8533A>C
c.8434A>C (p.Met2812Leu)
c.7339A>C (p.Met2447Leu)
c.3523A>C (p.Met1175Leu)
c.3076A>C (p.Met1026Leu)
c.2413A>C (p.Met805Leu)
c.6928A>C (p.Met2310Leu)
n.8451A>C
5g.13792116T=CA1528440974DNAH5c.8326A= (p.Met2776=)
c.8281A= (p.Met2761=)
n.8533A=
c.8434A= (p.Met2812=)
c.7339A= (p.Met2447=)
c.3523A= (p.Met1175=)
c.3076A= (p.Met1026=)
c.2413A= (p.Met805=)
c.6928A= (p.Met2310=)
n.8451A=
5g.13792117C>ACA359219323DNAH5c.8325G>T (p.Gln2775His)
c.8280G>T (p.Gln2760His)
n.8532G>T
c.8433G>T (p.Gln2811His)
c.7338G>T (p.Gln2446His)
c.3522G>T (p.Gln1174His)
c.3075G>T (p.Gln1025His)
c.2412G>T (p.Gln804His)
c.6927G>T (p.Gln2309His)
n.8450G>T
5g.13792117C>GCA359219325DNAH5c.8325G>C (p.Gln2775His)
c.8280G>C (p.Gln2760His)
n.8532G>C
c.8433G>C (p.Gln2811His)
c.7338G>C (p.Gln2446His)
c.3522G>C (p.Gln1174His)
c.3075G>C (p.Gln1025His)
c.2412G>C (p.Gln804His)
c.6927G>C (p.Gln2309His)
n.8450G>C
5g.13792117C>TCA443263449DNAH5c.8325G>A (p.Gln2775=)
c.8280G>A (p.Gln2760=)
n.8532G>A
c.8433G>A (p.Gln2811=)
c.7338G>A (p.Gln2446=)
c.3522G>A (p.Gln1174=)
c.3075G>A (p.Gln1025=)
c.2412G>A (p.Gln804=)
c.6927G>A (p.Gln2309=)
n.8450G>A
 gnomAD v4 COSMIC
5g.13792118T>ACA359219327DNAH5c.8324A>T (p.Gln2775Leu)
c.8279A>T (p.Gln2760Leu)
n.8531A>T
c.8432A>T (p.Gln2811Leu)
c.7337A>T (p.Gln2446Leu)
c.3521A>T (p.Gln1174Leu)
c.3074A>T (p.Gln1025Leu)
c.2411A>T (p.Gln804Leu)
c.6926A>T (p.Gln2309Leu)
n.8449A>T
5g.13792118T>CCA359219328DNAH5c.8324A>G (p.Gln2775Arg)
c.8279A>G (p.Gln2760Arg)
n.8531A>G
c.8432A>G (p.Gln2811Arg)
c.7337A>G (p.Gln2446Arg)
c.3521A>G (p.Gln1174Arg)
c.3074A>G (p.Gln1025Arg)
c.2411A>G (p.Gln804Arg)
c.6926A>G (p.Gln2309Arg)
n.8449A>G
 ClinVar dbSNP gnomAD v4
5g.13792118T>GCA359219330DNAH5c.8324A>C (p.Gln2775Pro)
c.8279A>C (p.Gln2760Pro)
n.8531A>C
c.8432A>C (p.Gln2811Pro)
c.7337A>C (p.Gln2446Pro)
c.3521A>C (p.Gln1174Pro)
c.3074A>C (p.Gln1025Pro)
c.2411A>C (p.Gln804Pro)
c.6926A>C (p.Gln2309Pro)
n.8449A>C
5g.13792119G>ACA359219333DNAH5c.8323C>T (p.Gln2775Ter)
c.8278C>T (p.Gln2760Ter)
n.8530C>T
c.8431C>T (p.Gln2811Ter)
c.7336C>T (p.Gln2446Ter)
c.3520C>T (p.Gln1174Ter)
c.3073C>T (p.Gln1025Ter)
c.2410C>T (p.Gln804Ter)
c.6925C>T (p.Gln2309Ter)
n.8448C>T
5g.13792119G>CCA359219334DNAH5c.8323C>G (p.Gln2775Glu)
c.8278C>G (p.Gln2760Glu)
n.8530C>G
c.8431C>G (p.Gln2811Glu)
c.7336C>G (p.Gln2446Glu)
c.3520C>G (p.Gln1174Glu)
c.3073C>G (p.Gln1025Glu)
c.2410C>G (p.Gln804Glu)
c.6925C>G (p.Gln2309Glu)
n.8448C>G
5g.13792119G>TCA359219336DNAH5c.8323C>A (p.Gln2775Lys)
c.8278C>A (p.Gln2760Lys)
n.8530C>A
c.8431C>A (p.Gln2811Lys)
c.7336C>A (p.Gln2446Lys)
c.3520C>A (p.Gln1174Lys)
c.3073C>A (p.Gln1025Lys)
c.2410C>A (p.Gln804Lys)
c.6925C>A (p.Gln2309Lys)
n.8448C>A
5g.13792120C>ACA359219338DNAH5c.8322G>T (p.Trp2774Cys)
c.8277G>T (p.Trp2759Cys)
n.8529G>T
c.8430G>T (p.Trp2810Cys)
c.7335G>T (p.Trp2445Cys)
c.3519G>T (p.Trp1173Cys)
c.3072G>T (p.Trp1024Cys)
c.2409G>T (p.Trp803Cys)
c.6924G>T (p.Trp2308Cys)
n.8447G>T
5g.13792120C=CA1528440975DNAH5c.8322G= (p.Trp2774=)
c.8277G= (p.Trp2759=)
n.8529G=
c.8430G= (p.Trp2810=)
c.7335G= (p.Trp2445=)
c.3519G= (p.Trp1173=)
c.3072G= (p.Trp1024=)
c.2409G= (p.Trp803=)
c.6924G= (p.Trp2308=)
n.8447G=
5g.13792120C>GCA359219340DNAH5c.8322G>C (p.Trp2774Cys)
c.8277G>C (p.Trp2759Cys)
n.8529G>C
c.8430G>C (p.Trp2810Cys)
c.7335G>C (p.Trp2445Cys)
c.3519G>C (p.Trp1173Cys)
c.3072G>C (p.Trp1024Cys)
c.2409G>C (p.Trp803Cys)
c.6924G>C (p.Trp2308Cys)
n.8447G>C
5g.13792120C>TCA359219342DNAH5c.8322G>A (p.Trp2774Ter)
c.8277G>A (p.Trp2759Ter)
n.8529G>A
c.8430G>A (p.Trp2810Ter)
c.7335G>A (p.Trp2445Ter)
c.3519G>A (p.Trp1173Ter)
c.3072G>A (p.Trp1024Ter)
c.2409G>A (p.Trp803Ter)
c.6924G>A (p.Trp2308Ter)
n.8447G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13792120_13792121insGCA658796506DNAH5c.8321_8322insC (p.Trp2774CysfsTer7)
c.8276_8277insC (p.Trp2759CysfsTer7)
n.8528_8529insC
c.8429_8430insC (p.Trp2810CysfsTer7)
c.7334_7335insC (p.Trp2445CysfsTer7)
c.3518_3519insC (p.Trp1173CysfsTer7)
c.3071_3072insC (p.Trp1024CysfsTer7)
c.2408_2409insC (p.Trp803CysfsTer7)
c.6923_6924insC (p.Trp2308CysfsTer7)
n.8446_8447insC
 ClinVar dbSNP gnomAD v4
5g.13792121C>ACA359219345DNAH5c.8321G>T (p.Trp2774Leu)
c.8276G>T (p.Trp2759Leu)
n.8528G>T
c.8429G>T (p.Trp2810Leu)
c.7334G>T (p.Trp2445Leu)
c.3518G>T (p.Trp1173Leu)
c.3071G>T (p.Trp1024Leu)
c.2408G>T (p.Trp803Leu)
c.6923G>T (p.Trp2308Leu)
n.8446G>T
5g.13792121C>GCA359219346DNAH5c.8321G>C (p.Trp2774Ser)
c.8276G>C (p.Trp2759Ser)
n.8528G>C
c.8429G>C (p.Trp2810Ser)
c.7334G>C (p.Trp2445Ser)
c.3518G>C (p.Trp1173Ser)
c.3071G>C (p.Trp1024Ser)
c.2408G>C (p.Trp803Ser)
c.6923G>C (p.Trp2308Ser)
n.8446G>C
5g.13792121C>TCA359219347DNAH5c.8321G>A (p.Trp2774Ter)
c.8276G>A (p.Trp2759Ter)
n.8528G>A
c.8429G>A (p.Trp2810Ter)
c.7334G>A (p.Trp2445Ter)
c.3518G>A (p.Trp1173Ter)
c.3071G>A (p.Trp1024Ter)
c.2408G>A (p.Trp803Ter)
c.6923G>A (p.Trp2308Ter)
n.8446G>A
 ClinVar
5g.13792122A>CCA359219353DNAH5c.8320T>G (p.Trp2774Gly)
c.8275T>G (p.Trp2759Gly)
n.8527T>G
c.8428T>G (p.Trp2810Gly)
c.7333T>G (p.Trp2445Gly)
c.3517T>G (p.Trp1173Gly)
c.3070T>G (p.Trp1024Gly)
c.2407T>G (p.Trp803Gly)
c.6922T>G (p.Trp2308Gly)
n.8445T>G
5g.13792122A>GCA16609321DNAH5c.8320T>C (p.Trp2774Arg)
c.8275T>C (p.Trp2759Arg)
n.8527T>C
c.8428T>C (p.Trp2810Arg)
c.7333T>C (p.Trp2445Arg)
c.3517T>C (p.Trp1173Arg)
c.3070T>C (p.Trp1024Arg)
c.2407T>C (p.Trp803Arg)
c.6922T>C (p.Trp2308Arg)
n.8445T>C
 gnomAD v4
5g.13792122A>TCA359219350DNAH5c.8320T>A (p.Trp2774Arg)
c.8275T>A (p.Trp2759Arg)
n.8527T>A
c.8428T>A (p.Trp2810Arg)
c.7333T>A (p.Trp2445Arg)
c.3517T>A (p.Trp1173Arg)
c.3070T>A (p.Trp1024Arg)
c.2407T>A (p.Trp803Arg)
c.6922T>A (p.Trp2308Arg)
n.8445T>A
5g.13792123T>ACA443263450DNAH5c.8319A>T (p.Leu2773=)
c.8274A>T (p.Leu2758=)
n.8526A>T
c.8427A>T (p.Leu2809=)
c.7332A>T (p.Leu2444=)
c.3516A>T (p.Leu1172=)
c.3069A>T (p.Leu1023=)
c.2406A>T (p.Leu802=)
c.6921A>T (p.Leu2307=)
n.8444A>T
 gnomAD v4
5g.13792123T>CCA3202841DNAH5c.8319A>G (p.Leu2773=)
c.8274A>G (p.Leu2758=)
n.8526A>G
c.8427A>G (p.Leu2809=)
c.7332A>G (p.Leu2444=)
c.3516A>G (p.Leu1172=)
c.3069A>G (p.Leu1023=)
c.2406A>G (p.Leu802=)
c.6921A>G (p.Leu2307=)
n.8444A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792123T>GCA443263451DNAH5c.8319A>C (p.Leu2773=)
c.8274A>C (p.Leu2758=)
n.8526A>C
c.8427A>C (p.Leu2809=)
c.7332A>C (p.Leu2444=)
c.3516A>C (p.Leu1172=)
c.3069A>C (p.Leu1023=)
c.2406A>C (p.Leu802=)
c.6921A>C (p.Leu2307=)
n.8444A>C
5g.13792123T=CA1528440976DNAH5c.8319A= (p.Leu2773=)
c.8274A= (p.Leu2758=)
n.8526A=
c.8427A= (p.Leu2809=)
c.7332A= (p.Leu2444=)
c.3516A= (p.Leu1172=)
c.3069A= (p.Leu1023=)
c.2406A= (p.Leu802=)
c.6921A= (p.Leu2307=)
n.8444A=
5g.13792124A=CA1528440977DNAH5c.8318T= (p.Leu2773=)
c.8273T= (p.Leu2758=)
n.8525T=
c.8426T= (p.Leu2809=)
c.7331T= (p.Leu2444=)
c.3515T= (p.Leu1172=)
c.3068T= (p.Leu1023=)
c.2405T= (p.Leu802=)
c.6920T= (p.Leu2307=)
n.8443T=
5g.13792124A>CCA359219358DNAH5c.8318T>G (p.Leu2773Arg)
c.8273T>G (p.Leu2758Arg)
n.8525T>G
c.8426T>G (p.Leu2809Arg)
c.7331T>G (p.Leu2444Arg)
c.3515T>G (p.Leu1172Arg)
c.3068T>G (p.Leu1023Arg)
c.2405T>G (p.Leu802Arg)
c.6920T>G (p.Leu2307Arg)
n.8443T>G
5g.13792124A>GCA359219362DNAH5c.8318T>C (p.Leu2773Pro)
c.8273T>C (p.Leu2758Pro)
n.8525T>C
c.8426T>C (p.Leu2809Pro)
c.7331T>C (p.Leu2444Pro)
c.3515T>C (p.Leu1172Pro)
c.3068T>C (p.Leu1023Pro)
c.2405T>C (p.Leu802Pro)
c.6920T>C (p.Leu2307Pro)
n.8443T>C
 dbSNP gnomAD v4
5g.13792124A>TCA359219363DNAH5c.8318T>A (p.Leu2773Gln)
c.8273T>A (p.Leu2758Gln)
n.8525T>A
c.8426T>A (p.Leu2809Gln)
c.7331T>A (p.Leu2444Gln)
c.3515T>A (p.Leu1172Gln)
c.3068T>A (p.Leu1023Gln)
c.2405T>A (p.Leu802Gln)
c.6920T>A (p.Leu2307Gln)
n.8443T>A
5g.13792125G>ACA443263457DNAH5c.8317C>T (p.Leu2773=)
c.8272C>T (p.Leu2758=)
n.8524C>T
c.8425C>T (p.Leu2809=)
c.7330C>T (p.Leu2444=)
c.3514C>T (p.Leu1172=)
c.3067C>T (p.Leu1023=)
c.2404C>T (p.Leu802=)
c.6919C>T (p.Leu2307=)
n.8442C>T
 dbSNP gnomAD v4
5g.13792125G>CCA359219366DNAH5c.8317C>G (p.Leu2773Val)
c.8272C>G (p.Leu2758Val)
n.8524C>G
c.8425C>G (p.Leu2809Val)
c.7330C>G (p.Leu2444Val)
c.3514C>G (p.Leu1172Val)
c.3067C>G (p.Leu1023Val)
c.2404C>G (p.Leu802Val)
c.6919C>G (p.Leu2307Val)
n.8442C>G
5g.13792125G=CA1528440978DNAH5c.8317C= (p.Leu2773=)
c.8272C= (p.Leu2758=)
n.8524C=
c.8425C= (p.Leu2809=)
c.7330C= (p.Leu2444=)
c.3514C= (p.Leu1172=)
c.3067C= (p.Leu1023=)
c.2404C= (p.Leu802=)
c.6919C= (p.Leu2307=)
n.8442C=
5g.13792125G>TCA359219369DNAH5c.8317C>A (p.Leu2773Ile)
c.8272C>A (p.Leu2758Ile)
n.8524C>A
c.8425C>A (p.Leu2809Ile)
c.7330C>A (p.Leu2444Ile)
c.3514C>A (p.Leu1172Ile)
c.3067C>A (p.Leu1023Ile)
c.2404C>A (p.Leu802Ile)
c.6919C>A (p.Leu2307Ile)
n.8442C>A
5g.13792126T>ACA443263462DNAH5c.8316A>T (p.Arg2772=)
c.8271A>T (p.Arg2757=)
n.8523A>T
c.8424A>T (p.Arg2808=)
c.7329A>T (p.Arg2443=)
c.3513A>T (p.Arg1171=)
c.3066A>T (p.Arg1022=)
c.2403A>T (p.Arg801=)
c.6918A>T (p.Arg2306=)
n.8441A>T
5g.13792126T>CCA3202842DNAH5c.8316A>G (p.Arg2772=)
c.8271A>G (p.Arg2757=)
n.8523A>G
c.8424A>G (p.Arg2808=)
c.7329A>G (p.Arg2443=)
c.3513A>G (p.Arg1171=)
c.3066A>G (p.Arg1022=)
c.2403A>G (p.Arg801=)
c.6918A>G (p.Arg2306=)
n.8441A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792126T>GCA443263466DNAH5c.8316A>C (p.Arg2772=)
c.8271A>C (p.Arg2757=)
n.8523A>C
c.8424A>C (p.Arg2808=)
c.7329A>C (p.Arg2443=)
c.3513A>C (p.Arg1171=)
c.3066A>C (p.Arg1022=)
c.2403A>C (p.Arg801=)
c.6918A>C (p.Arg2306=)
n.8441A>C
5g.13792126T=CA1528440979DNAH5c.8316A= (p.Arg2772=)
c.8271A= (p.Arg2757=)
n.8523A=
c.8424A= (p.Arg2808=)
c.7329A= (p.Arg2443=)
c.3513A= (p.Arg1171=)
c.3066A= (p.Arg1022=)
c.2403A= (p.Arg801=)
c.6918A= (p.Arg2306=)
n.8441A=
5g.13792127C>ACA359219385DNAH5c.8315G>T (p.Arg2772Leu)
c.8270G>T (p.Arg2757Leu)
n.8522G>T
c.8423G>T (p.Arg2808Leu)
c.7328G>T (p.Arg2443Leu)
c.3512G>T (p.Arg1171Leu)
c.3065G>T (p.Arg1022Leu)
c.2402G>T (p.Arg801Leu)
c.6917G>T (p.Arg2306Leu)
n.8440G>T
 gnomAD v4
5g.13792127C=CA1528440980DNAH5c.8315G= (p.Arg2772=)
c.8270G= (p.Arg2757=)
n.8522G=
c.8423G= (p.Arg2808=)
c.7328G= (p.Arg2443=)
c.3512G= (p.Arg1171=)
c.3065G= (p.Arg1022=)
c.2402G= (p.Arg801=)
c.6917G= (p.Arg2306=)
n.8440G=
5g.13792127C>GCA359219389DNAH5c.8315G>C (p.Arg2772Pro)
c.8270G>C (p.Arg2757Pro)
n.8522G>C
c.8423G>C (p.Arg2808Pro)
c.7328G>C (p.Arg2443Pro)
c.3512G>C (p.Arg1171Pro)
c.3065G>C (p.Arg1022Pro)
c.2402G>C (p.Arg801Pro)
c.6917G>C (p.Arg2306Pro)
n.8440G>C
 gnomAD v4
5g.13792127C>TCA3202843DNAH5c.8315G>A (p.Arg2772Gln)
c.8270G>A (p.Arg2757Gln)
n.8522G>A
c.8423G>A (p.Arg2808Gln)
c.7328G>A (p.Arg2443Gln)
c.3512G>A (p.Arg1171Gln)
c.3065G>A (p.Arg1022Gln)
c.2402G>A (p.Arg801Gln)
c.6917G>A (p.Arg2306Gln)
n.8440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792128G>ACA3202844DNAH5c.8314C>T (p.Arg2772Ter)
c.8269C>T (p.Arg2757Ter)
n.8521C>T
c.8422C>T (p.Arg2808Ter)
c.7327C>T (p.Arg2443Ter)
c.3511C>T (p.Arg1171Ter)
c.3064C>T (p.Arg1022Ter)
c.2401C>T (p.Arg801Ter)
c.6916C>T (p.Arg2306Ter)
n.8439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13792128G>CCA359219395DNAH5c.8314C>G (p.Arg2772Gly)
c.8269C>G (p.Arg2757Gly)
n.8521C>G
c.8422C>G (p.Arg2808Gly)
c.7327C>G (p.Arg2443Gly)
c.3511C>G (p.Arg1171Gly)
c.3064C>G (p.Arg1022Gly)
c.2401C>G (p.Arg801Gly)
c.6916C>G (p.Arg2306Gly)
n.8439C>G
5g.13792128G=CA1528440981DNAH5c.8314C= (p.Arg2772=)
c.8269C= (p.Arg2757=)
n.8521C=
c.8422C= (p.Arg2808=)
c.7327C= (p.Arg2443=)
c.3511C= (p.Arg1171=)
c.3064C= (p.Arg1022=)
c.2401C= (p.Arg801=)
c.6916C= (p.Arg2306=)
n.8439C=
5g.13792128G>TCA443263478DNAH5c.8314C>A (p.Arg2772=)
c.8269C>A (p.Arg2757=)
n.8521C>A
c.8422C>A (p.Arg2808=)
c.7327C>A (p.Arg2443=)
c.3511C>A (p.Arg1171=)
c.3064C>A (p.Arg1022=)
c.2401C>A (p.Arg801=)
c.6916C>A (p.Arg2306=)
n.8439C>A
5g.13792129G>ACA443263481DNAH5c.8313C>T (p.Arg2771=)
c.8268C>T (p.Arg2756=)
n.8520C>T
c.8421C>T (p.Arg2807=)
c.7326C>T (p.Arg2442=)
c.3510C>T (p.Arg1170=)
c.3063C>T (p.Arg1021=)
c.2400C>T (p.Arg800=)
c.6915C>T (p.Arg2305=)
n.8438C>T
 gnomAD v4
5g.13792129G>CCA443263485DNAH5c.8313C>G (p.Arg2771=)
c.8268C>G (p.Arg2756=)
n.8520C>G
c.8421C>G (p.Arg2807=)
c.7326C>G (p.Arg2442=)
c.3510C>G (p.Arg1170=)
c.3063C>G (p.Arg1021=)
c.2400C>G (p.Arg800=)
c.6915C>G (p.Arg2305=)
n.8438C>G
5g.13792129G>TCA443263483DNAH5c.8313C>A (p.Arg2771=)
c.8268C>A (p.Arg2756=)
n.8520C>A
c.8421C>A (p.Arg2807=)
c.7326C>A (p.Arg2442=)
c.3510C>A (p.Arg1170=)
c.3063C>A (p.Arg1021=)
c.2400C>A (p.Arg800=)
c.6915C>A (p.Arg2305=)
n.8438C>A
5g.13792130C>ACA113960200DNAH5c.8312G>T (p.Arg2771Leu)
c.8267G>T (p.Arg2756Leu)
n.8519G>T
c.8420G>T (p.Arg2807Leu)
c.7325G>T (p.Arg2442Leu)
c.3509G>T (p.Arg1170Leu)
c.3062G>T (p.Arg1021Leu)
c.2399G>T (p.Arg800Leu)
c.6914G>T (p.Arg2305Leu)
n.8437G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792130C=CA1528440982DNAH5c.8312G= (p.Arg2771=)
c.8267G= (p.Arg2756=)
n.8519G=
c.8420G= (p.Arg2807=)
c.7325G= (p.Arg2442=)
c.3509G= (p.Arg1170=)
c.3062G= (p.Arg1021=)
c.2399G= (p.Arg800=)
c.6914G= (p.Arg2305=)
n.8437G=
5g.13792130C>GCA359219407DNAH5c.8312G>C (p.Arg2771Pro)
c.8267G>C (p.Arg2756Pro)
n.8519G>C
c.8420G>C (p.Arg2807Pro)
c.7325G>C (p.Arg2442Pro)
c.3509G>C (p.Arg1170Pro)
c.3062G>C (p.Arg1021Pro)
c.2399G>C (p.Arg800Pro)
c.6914G>C (p.Arg2305Pro)
n.8437G>C
5g.13792130C>TCA3202845DNAH5c.8312G>A (p.Arg2771His)
c.8267G>A (p.Arg2756His)
n.8519G>A
c.8420G>A (p.Arg2807His)
c.7325G>A (p.Arg2442His)
c.3509G>A (p.Arg1170His)
c.3062G>A (p.Arg1021His)
c.2399G>A (p.Arg800His)
c.6914G>A (p.Arg2305His)
n.8437G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792131G>ACA3202846DNAH5c.8311C>T (p.Arg2771Cys)
c.8266C>T (p.Arg2756Cys)
n.8518C>T
c.8419C>T (p.Arg2807Cys)
c.7324C>T (p.Arg2442Cys)
c.3508C>T (p.Arg1170Cys)
c.3061C>T (p.Arg1021Cys)
c.2398C>T (p.Arg800Cys)
c.6913C>T (p.Arg2305Cys)
n.8436C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13792131G>CCA359219418DNAH5c.8311C>G (p.Arg2771Gly)
c.8266C>G (p.Arg2756Gly)
n.8518C>G
c.8419C>G (p.Arg2807Gly)
c.7324C>G (p.Arg2442Gly)
c.3508C>G (p.Arg1170Gly)
c.3061C>G (p.Arg1021Gly)
c.2398C>G (p.Arg800Gly)
c.6913C>G (p.Arg2305Gly)
n.8436C>G
5g.13792131G=CA1528440983DNAH5c.8311C= (p.Arg2771=)
c.8266C= (p.Arg2756=)
n.8518C=
c.8419C= (p.Arg2807=)
c.7324C= (p.Arg2442=)
c.3508C= (p.Arg1170=)
c.3061C= (p.Arg1021=)
c.2398C= (p.Arg800=)
c.6913C= (p.Arg2305=)
n.8436C=
5g.13792131G>TCA359219413DNAH5c.8311C>A (p.Arg2771Ser)
c.8266C>A (p.Arg2756Ser)
n.8518C>A
c.8419C>A (p.Arg2807Ser)
c.7324C>A (p.Arg2442Ser)
c.3508C>A (p.Arg1170Ser)
c.3061C>A (p.Arg1021Ser)
c.2398C>A (p.Arg800Ser)
c.6913C>A (p.Arg2305Ser)
n.8436C>A
 dbSNP gnomAD v3 gnomAD v4
5g.13792132T>ACA443263500DNAH5c.8310A>T (p.Thr2770=)
c.8265A>T (p.Thr2755=)
n.8517A>T
c.8418A>T (p.Thr2806=)
c.7323A>T (p.Thr2441=)
c.3507A>T (p.Thr1169=)
c.3060A>T (p.Thr1020=)
c.2397A>T (p.Thr799=)
c.6912A>T (p.Thr2304=)
n.8435A>T
5g.13792132T>CCA443263502DNAH5c.8310A>G (p.Thr2770=)
c.8265A>G (p.Thr2755=)
n.8517A>G
c.8418A>G (p.Thr2806=)
c.7323A>G (p.Thr2441=)
c.3507A>G (p.Thr1169=)
c.3060A>G (p.Thr1020=)
c.2397A>G (p.Thr799=)
c.6912A>G (p.Thr2304=)
n.8435A>G
5g.13792132T>GCA443263505DNAH5c.8310A>C (p.Thr2770=)
c.8265A>C (p.Thr2755=)
n.8517A>C
c.8418A>C (p.Thr2806=)
c.7323A>C (p.Thr2441=)
c.3507A>C (p.Thr1169=)
c.3060A>C (p.Thr1020=)
c.2397A>C (p.Thr799=)
c.6912A>C (p.Thr2304=)
n.8435A>C
5g.13792133G>ACA359219422DNAH5c.8309C>T (p.Thr2770Ile)
c.8264C>T (p.Thr2755Ile)
n.8516C>T
c.8417C>T (p.Thr2806Ile)
c.7322C>T (p.Thr2441Ile)
c.3506C>T (p.Thr1169Ile)
c.3059C>T (p.Thr1020Ile)
c.2396C>T (p.Thr799Ile)
c.6911C>T (p.Thr2304Ile)
n.8434C>T
5g.13792133G>CCA359219423DNAH5c.8309C>G (p.Thr2770Arg)
c.8264C>G (p.Thr2755Arg)
n.8516C>G
c.8417C>G (p.Thr2806Arg)
c.7322C>G (p.Thr2441Arg)
c.3506C>G (p.Thr1169Arg)
c.3059C>G (p.Thr1020Arg)
c.2396C>G (p.Thr799Arg)
c.6911C>G (p.Thr2304Arg)
n.8434C>G
5g.13792133G>TCA359219426DNAH5c.8309C>A (p.Thr2770Lys)
c.8264C>A (p.Thr2755Lys)
n.8516C>A
c.8417C>A (p.Thr2806Lys)
c.7322C>A (p.Thr2441Lys)
c.3506C>A (p.Thr1169Lys)
c.3059C>A (p.Thr1020Lys)
c.2396C>A (p.Thr799Lys)
c.6911C>A (p.Thr2304Lys)
n.8434C>A
5g.13792134T>ACA359219430DNAH5c.8308A>T (p.Thr2770Ser)
c.8263A>T (p.Thr2755Ser)
n.8515A>T
c.8416A>T (p.Thr2806Ser)
c.7321A>T (p.Thr2441Ser)
c.3505A>T (p.Thr1169Ser)
c.3058A>T (p.Thr1020Ser)
c.2395A>T (p.Thr799Ser)
c.6910A>T (p.Thr2304Ser)
n.8433A>T
5g.13792134T>CCA3202847DNAH5c.8308A>G (p.Thr2770Ala)
c.8263A>G (p.Thr2755Ala)
n.8515A>G
c.8416A>G (p.Thr2806Ala)
c.7321A>G (p.Thr2441Ala)
c.3505A>G (p.Thr1169Ala)
c.3058A>G (p.Thr1020Ala)
c.2395A>G (p.Thr799Ala)
c.6910A>G (p.Thr2304Ala)
n.8433A>G
 dbSNP ExAC gnomAD v2
5g.13792134T>GCA359219432DNAH5c.8308A>C (p.Thr2770Pro)
c.8263A>C (p.Thr2755Pro)
n.8515A>C
c.8416A>C (p.Thr2806Pro)
c.7321A>C (p.Thr2441Pro)
c.3505A>C (p.Thr1169Pro)
c.3058A>C (p.Thr1020Pro)
c.2395A>C (p.Thr799Pro)
c.6910A>C (p.Thr2304Pro)
n.8433A>C
5g.13792134T=CA1528440984DNAH5c.8308A= (p.Thr2770=)
c.8263A= (p.Thr2755=)
n.8515A=
c.8416A= (p.Thr2806=)
c.7321A= (p.Thr2441=)
c.3505A= (p.Thr1169=)
c.3058A= (p.Thr1020=)
c.2395A= (p.Thr799=)
c.6910A= (p.Thr2304=)
n.8433A=
5g.13792135C>ACA443263521DNAH5c.8307G>T (p.Leu2769=)
c.8262G>T (p.Leu2754=)
n.8514G>T
c.8415G>T (p.Leu2805=)
c.7320G>T (p.Leu2440=)
c.3504G>T (p.Leu1168=)
c.3057G>T (p.Leu1019=)
c.2394G>T (p.Leu798=)
c.6909G>T (p.Leu2303=)
n.8432G>T
 ClinVar
5g.13792135C>GCA443263523DNAH5c.8307G>C (p.Leu2769=)
c.8262G>C (p.Leu2754=)
n.8514G>C
c.8415G>C (p.Leu2805=)
c.7320G>C (p.Leu2440=)
c.3504G>C (p.Leu1168=)
c.3057G>C (p.Leu1019=)
c.2394G>C (p.Leu798=)
c.6909G>C (p.Leu2303=)
n.8432G>C
5g.13792135C>TCA443263525DNAH5c.8307G>A (p.Leu2769=)
c.8262G>A (p.Leu2754=)
n.8514G>A
c.8415G>A (p.Leu2805=)
c.7320G>A (p.Leu2440=)
c.3504G>A (p.Leu1168=)
c.3057G>A (p.Leu1019=)
c.2394G>A (p.Leu798=)
c.6909G>A (p.Leu2303=)
n.8432G>A
5g.13792136A>CCA359219434DNAH5c.8306T>G (p.Leu2769Arg)
c.8261T>G (p.Leu2754Arg)
n.8513T>G
c.8414T>G (p.Leu2805Arg)
c.7319T>G (p.Leu2440Arg)
c.3503T>G (p.Leu1168Arg)
c.3056T>G (p.Leu1019Arg)
c.2393T>G (p.Leu798Arg)
c.6908T>G (p.Leu2303Arg)
n.8431T>G
5g.13792136A>GCA359219436DNAH5c.8306T>C (p.Leu2769Pro)
c.8261T>C (p.Leu2754Pro)
n.8513T>C
c.8414T>C (p.Leu2805Pro)
c.7319T>C (p.Leu2440Pro)
c.3503T>C (p.Leu1168Pro)
c.3056T>C (p.Leu1019Pro)
c.2393T>C (p.Leu798Pro)
c.6908T>C (p.Leu2303Pro)
n.8431T>C
5g.13792136A>TCA359219438DNAH5c.8306T>A (p.Leu2769Gln)
c.8261T>A (p.Leu2754Gln)
n.8513T>A
c.8414T>A (p.Leu2805Gln)
c.7319T>A (p.Leu2440Gln)
c.3503T>A (p.Leu1168Gln)
c.3056T>A (p.Leu1019Gln)
c.2393T>A (p.Leu798Gln)
c.6908T>A (p.Leu2303Gln)
n.8431T>A
5g.13792137G>ACA443263531DNAH5c.8305C>T (p.Leu2769=)
c.8260C>T (p.Leu2754=)
n.8512C>T
c.8413C>T (p.Leu2805=)
c.7318C>T (p.Leu2440=)
c.3502C>T (p.Leu1168=)
c.3055C>T (p.Leu1019=)
c.2392C>T (p.Leu798=)
c.6907C>T (p.Leu2303=)
n.8430C>T
5g.13792137G>CCA359219440DNAH5c.8305C>G (p.Leu2769Val)
c.8260C>G (p.Leu2754Val)
n.8512C>G
c.8413C>G (p.Leu2805Val)
c.7318C>G (p.Leu2440Val)
c.3502C>G (p.Leu1168Val)
c.3055C>G (p.Leu1019Val)
c.2392C>G (p.Leu798Val)
c.6907C>G (p.Leu2303Val)
n.8430C>G
5g.13792137G>TCA359219442DNAH5c.8305C>A (p.Leu2769Met)
c.8260C>A (p.Leu2754Met)
n.8512C>A
c.8413C>A (p.Leu2805Met)
c.7318C>A (p.Leu2440Met)
c.3502C>A (p.Leu1168Met)
c.3055C>A (p.Leu1019Met)
c.2392C>A (p.Leu798Met)
c.6907C>A (p.Leu2303Met)
n.8430C>A
5g.13792138A>CCA443263536DNAH5c.8304T>G (p.Pro2768=)
c.8259T>G (p.Pro2753=)
n.8511T>G
c.8412T>G (p.Pro2804=)
c.7317T>G (p.Pro2439=)
c.3501T>G (p.Pro1167=)
c.3054T>G (p.Pro1018=)
c.2391T>G (p.Pro797=)
c.6906T>G (p.Pro2302=)
n.8429T>G
5g.13792138A>GCA443263539DNAH5c.8304T>C (p.Pro2768=)
c.8259T>C (p.Pro2753=)
n.8511T>C
c.8412T>C (p.Pro2804=)
c.7317T>C (p.Pro2439=)
c.3501T>C (p.Pro1167=)
c.3054T>C (p.Pro1018=)
c.2391T>C (p.Pro797=)
c.6906T>C (p.Pro2302=)
n.8429T>C
5g.13792138A>TCA443263541DNAH5c.8304T>A (p.Pro2768=)
c.8259T>A (p.Pro2753=)
n.8511T>A
c.8412T>A (p.Pro2804=)
c.7317T>A (p.Pro2439=)
c.3501T>A (p.Pro1167=)
c.3054T>A (p.Pro1018=)
c.2391T>A (p.Pro797=)
c.6906T>A (p.Pro2302=)
n.8429T>A
5g.13792139G>ACA113960212DNAH5c.8303C>T (p.Pro2768Leu)
c.8258C>T (p.Pro2753Leu)
n.8510C>T
c.8411C>T (p.Pro2804Leu)
c.7316C>T (p.Pro2439Leu)
c.3500C>T (p.Pro1167Leu)
c.3053C>T (p.Pro1018Leu)
c.2390C>T (p.Pro797Leu)
c.6905C>T (p.Pro2302Leu)
n.8428C>T
 dbSNP gnomAD v4 COSMIC
5g.13792139G>CCA359219443DNAH5c.8303C>G (p.Pro2768Arg)
c.8258C>G (p.Pro2753Arg)
n.8510C>G
c.8411C>G (p.Pro2804Arg)
c.7316C>G (p.Pro2439Arg)
c.3500C>G (p.Pro1167Arg)
c.3053C>G (p.Pro1018Arg)
c.2390C>G (p.Pro797Arg)
c.6905C>G (p.Pro2302Arg)
n.8428C>G
5g.13792139G=CA1528440985DNAH5c.8303C= (p.Pro2768=)
c.8258C= (p.Pro2753=)
n.8510C=
c.8411C= (p.Pro2804=)
c.7316C= (p.Pro2439=)
c.3500C= (p.Pro1167=)
c.3053C= (p.Pro1018=)
c.2390C= (p.Pro797=)
c.6905C= (p.Pro2302=)
n.8428C=
5g.13792139G>TCA359219444DNAH5c.8303C>A (p.Pro2768His)
c.8258C>A (p.Pro2753His)
n.8510C>A
c.8411C>A (p.Pro2804His)
c.7316C>A (p.Pro2439His)
c.3500C>A (p.Pro1167His)
c.3053C>A (p.Pro1018His)
c.2390C>A (p.Pro797His)
c.6905C>A (p.Pro2302His)
n.8428C>A
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

Number of alleles fetched