Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13791994_13792002delinsATTTGGTTCCA1528440924DNAH5c.8440_8448delinsGAACCAAAT (p.Glu2814=)
c.8395_8403delinsGAACCAAAT (p.Glu2799=)
n.8647_8655delinsGAACCAAAT
c.8548_8556delinsGAACCAAAT (p.Glu2850=)
c.7453_7461delinsGAACCAAAT (p.Glu2485=)
c.3637_3645delinsGAACCAAAT (p.Glu1213=)
c.3190_3198delinsGAACCAAAT (p.Glu1064=)
c.2527_2535delinsGAACCAAAT (p.Glu843=)
c.7042_7050delinsGAACCAAAT (p.Glu2348=)
n.8565_8573delinsGAACCAAAT
5g.13791995_13792002delCA3202825DNAH5c.8440_8447del (p.Glu2814Ter)
c.8395_8402del (p.Glu2799Ter)
n.8647_8654del
c.8548_8555del (p.Glu2850Ter)
c.7453_7460del (p.Glu2485Ter)
c.3637_3644del (p.Glu1213Ter)
c.3190_3197del (p.Glu1064Ter)
c.2527_2534del (p.Glu843Ter)
c.7042_7049del (p.Glu2348Ter)
n.8565_8572del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792001_13792005delCA2673271066DNAH5c.8438_8442del (p.Lys2813ThrfsTer3)
c.8393_8397del (p.Lys2798ThrfsTer3)
n.8645_8649del
c.8546_8550del (p.Lys2849ThrfsTer3)
c.7451_7455del (p.Lys2484ThrfsTer3)
c.3635_3639del (p.Lys1212ThrfsTer3)
c.3188_3192del (p.Lys1063ThrfsTer3)
c.2525_2529del (p.Lys842ThrfsTer3)
c.7040_7044del (p.Lys2347ThrfsTer3)
n.8563_8567del
 gnomAD v4
5g.13792001T>ACA359218725DNAH5c.8441A>T (p.Glu2814Val)
c.8396A>T (p.Glu2799Val)
n.8648A>T
c.8549A>T (p.Glu2850Val)
c.7454A>T (p.Glu2485Val)
c.3638A>T (p.Glu1213Val)
c.3191A>T (p.Glu1064Val)
c.2528A>T (p.Glu843Val)
c.7043A>T (p.Glu2348Val)
n.8566A>T
5g.13792001T>CCA359218723DNAH5c.8441A>G (p.Glu2814Gly)
c.8396A>G (p.Glu2799Gly)
n.8648A>G
c.8549A>G (p.Glu2850Gly)
c.7454A>G (p.Glu2485Gly)
c.3638A>G (p.Glu1213Gly)
c.3191A>G (p.Glu1064Gly)
c.2528A>G (p.Glu843Gly)
c.7043A>G (p.Glu2348Gly)
n.8566A>G
5g.13792001T>GCA359218722DNAH5c.8441A>C (p.Glu2814Ala)
c.8396A>C (p.Glu2799Ala)
n.8648A>C
c.8549A>C (p.Glu2850Ala)
c.7454A>C (p.Glu2485Ala)
c.3638A>C (p.Glu1213Ala)
c.3191A>C (p.Glu1064Ala)
c.2528A>C (p.Glu843Ala)
c.7043A>C (p.Glu2348Ala)
n.8566A>C
5g.13792002C>ACA359218732DNAH5c.8440G>T (p.Glu2814Ter)
c.8395G>T (p.Glu2799Ter)
n.8647G>T
c.8548G>T (p.Glu2850Ter)
c.7453G>T (p.Glu2485Ter)
c.3637G>T (p.Glu1213Ter)
c.3190G>T (p.Glu1064Ter)
c.2527G>T (p.Glu843Ter)
c.7042G>T (p.Glu2348Ter)
n.8565G>T
 COSMIC
5g.13792002C>GCA359218734DNAH5c.8440G>C (p.Glu2814Gln)
c.8395G>C (p.Glu2799Gln)
n.8647G>C
c.8548G>C (p.Glu2850Gln)
c.7453G>C (p.Glu2485Gln)
c.3637G>C (p.Glu1213Gln)
c.3190G>C (p.Glu1064Gln)
c.2527G>C (p.Glu843Gln)
c.7042G>C (p.Glu2348Gln)
n.8565G>C
5g.13792002C>TCA359218735DNAH5c.8440G>A (p.Glu2814Lys)
c.8395G>A (p.Glu2799Lys)
n.8647G>A
c.8548G>A (p.Glu2850Lys)
c.7453G>A (p.Glu2485Lys)
c.3637G>A (p.Glu1213Lys)
c.3190G>A (p.Glu1064Lys)
c.2527G>A (p.Glu843Lys)
c.7042G>A (p.Glu2348Lys)
n.8565G>A
5g.13792003C>ACA359218736DNAH5c.8439G>T (p.Lys2813Asn)
c.8394G>T (p.Lys2798Asn)
n.8646G>T
c.8547G>T (p.Lys2849Asn)
c.7452G>T (p.Lys2484Asn)
c.3636G>T (p.Lys1212Asn)
c.3189G>T (p.Lys1063Asn)
c.2526G>T (p.Lys842Asn)
c.7041G>T (p.Lys2347Asn)
n.8564G>T
5g.13792003C=CA1528440926DNAH5c.8439G= (p.Lys2813=)
c.8394G= (p.Lys2798=)
n.8646G=
c.8547G= (p.Lys2849=)
c.7452G= (p.Lys2484=)
c.3636G= (p.Lys1212=)
c.3189G= (p.Lys1063=)
c.2526G= (p.Lys842=)
c.7041G= (p.Lys2347=)
n.8564G=
5g.13792003C>GCA359218738DNAH5c.8439G>C (p.Lys2813Asn)
c.8394G>C (p.Lys2798Asn)
n.8646G>C
c.8547G>C (p.Lys2849Asn)
c.7452G>C (p.Lys2484Asn)
c.3636G>C (p.Lys1212Asn)
c.3189G>C (p.Lys1063Asn)
c.2526G>C (p.Lys842Asn)
c.7041G>C (p.Lys2347Asn)
n.8564G>C
5g.13792003C>TCA443263323DNAH5c.8439G>A (p.Lys2813=)
c.8394G>A (p.Lys2798=)
n.8646G>A
c.8547G>A (p.Lys2849=)
c.7452G>A (p.Lys2484=)
c.3636G>A (p.Lys1212=)
c.3189G>A (p.Lys1063=)
c.2526G>A (p.Lys842=)
c.7041G>A (p.Lys2347=)
n.8564G>A
 dbSNP gnomAD v4
5g.13792004T>ACA359218740DNAH5c.8438A>T (p.Lys2813Met)
c.8393A>T (p.Lys2798Met)
n.8645A>T
c.8546A>T (p.Lys2849Met)
c.7451A>T (p.Lys2484Met)
c.3635A>T (p.Lys1212Met)
c.3188A>T (p.Lys1063Met)
c.2525A>T (p.Lys842Met)
c.7040A>T (p.Lys2347Met)
n.8563A>T
5g.13792004T>CCA359218741DNAH5c.8438A>G (p.Lys2813Arg)
c.8393A>G (p.Lys2798Arg)
n.8645A>G
c.8546A>G (p.Lys2849Arg)
c.7451A>G (p.Lys2484Arg)
c.3635A>G (p.Lys1212Arg)
c.3188A>G (p.Lys1063Arg)
c.2525A>G (p.Lys842Arg)
c.7040A>G (p.Lys2347Arg)
n.8563A>G
5g.13792004T>GCA359218743DNAH5c.8438A>C (p.Lys2813Thr)
c.8393A>C (p.Lys2798Thr)
n.8645A>C
c.8546A>C (p.Lys2849Thr)
c.7451A>C (p.Lys2484Thr)
c.3635A>C (p.Lys1212Thr)
c.3188A>C (p.Lys1063Thr)
c.2525A>C (p.Lys842Thr)
c.7040A>C (p.Lys2347Thr)
n.8563A>C
5g.13792005T>ACA359218745DNAH5c.8437A>T (p.Lys2813Ter)
c.8392A>T (p.Lys2798Ter)
n.8644A>T
c.8545A>T (p.Lys2849Ter)
c.7450A>T (p.Lys2484Ter)
c.3634A>T (p.Lys1212Ter)
c.3187A>T (p.Lys1063Ter)
c.2524A>T (p.Lys842Ter)
c.7039A>T (p.Lys2347Ter)
n.8562A>T
5g.13792005T>CCA359218756DNAH5c.8437A>G (p.Lys2813Glu)
c.8392A>G (p.Lys2798Glu)
n.8644A>G
c.8545A>G (p.Lys2849Glu)
c.7450A>G (p.Lys2484Glu)
c.3634A>G (p.Lys1212Glu)
c.3187A>G (p.Lys1063Glu)
c.2524A>G (p.Lys842Glu)
c.7039A>G (p.Lys2347Glu)
n.8562A>G
5g.13792005T>GCA359218758DNAH5c.8437A>C (p.Lys2813Gln)
c.8392A>C (p.Lys2798Gln)
n.8644A>C
c.8545A>C (p.Lys2849Gln)
c.7450A>C (p.Lys2484Gln)
c.3634A>C (p.Lys1212Gln)
c.3187A>C (p.Lys1063Gln)
c.2524A>C (p.Lys842Gln)
c.7039A>C (p.Lys2347Gln)
n.8562A>C
 gnomAD v4
5g.13792006G>ACA443263330DNAH5c.8436C>T (p.Ile2812=)
c.8391C>T (p.Ile2797=)
n.8643C>T
c.8544C>T (p.Ile2848=)
c.7449C>T (p.Ile2483=)
c.3633C>T (p.Ile1211=)
c.3186C>T (p.Ile1062=)
c.2523C>T (p.Ile841=)
c.7038C>T (p.Ile2346=)
n.8561C>T
 gnomAD v4
5g.13792006G>CCA359218760DNAH5c.8436C>G (p.Ile2812Met)
c.8391C>G (p.Ile2797Met)
n.8643C>G
c.8544C>G (p.Ile2848Met)
c.7449C>G (p.Ile2483Met)
c.3633C>G (p.Ile1211Met)
c.3186C>G (p.Ile1062Met)
c.2523C>G (p.Ile841Met)
c.7038C>G (p.Ile2346Met)
n.8561C>G
5g.13792006G>TCA443263332DNAH5c.8436C>A (p.Ile2812=)
c.8391C>A (p.Ile2797=)
n.8643C>A
c.8544C>A (p.Ile2848=)
c.7449C>A (p.Ile2483=)
c.3633C>A (p.Ile1211=)
c.3186C>A (p.Ile1062=)
c.2523C>A (p.Ile841=)
c.7038C>A (p.Ile2346=)
n.8561C>A
5g.13792007delCA2673271067DNAH5c.8435del (p.Ile2812ThrfsTer8)
c.8390del (p.Ile2797ThrfsTer8)
n.8642del
c.8543del (p.Ile2848ThrfsTer8)
c.7448del (p.Ile2483ThrfsTer8)
c.3632del (p.Ile1211ThrfsTer8)
c.3185del (p.Ile1062ThrfsTer8)
c.2522del (p.Ile841ThrfsTer8)
c.7037del (p.Ile2346ThrfsTer8)
n.8560del
 gnomAD v4
5g.13792007A>CCA359218762DNAH5c.8435T>G (p.Ile2812Ser)
c.8390T>G (p.Ile2797Ser)
n.8642T>G
c.8543T>G (p.Ile2848Ser)
c.7448T>G (p.Ile2483Ser)
c.3632T>G (p.Ile1211Ser)
c.3185T>G (p.Ile1062Ser)
c.2522T>G (p.Ile841Ser)
c.7037T>G (p.Ile2346Ser)
n.8560T>G
5g.13792007A>GCA359218764DNAH5c.8435T>C (p.Ile2812Thr)
c.8390T>C (p.Ile2797Thr)
n.8642T>C
c.8543T>C (p.Ile2848Thr)
c.7448T>C (p.Ile2483Thr)
c.3632T>C (p.Ile1211Thr)
c.3185T>C (p.Ile1062Thr)
c.2522T>C (p.Ile841Thr)
c.7037T>C (p.Ile2346Thr)
n.8560T>C
5g.13792007A>TCA359218761DNAH5c.8435T>A (p.Ile2812Asn)
c.8390T>A (p.Ile2797Asn)
n.8642T>A
c.8543T>A (p.Ile2848Asn)
c.7448T>A (p.Ile2483Asn)
c.3632T>A (p.Ile1211Asn)
c.3185T>A (p.Ile1062Asn)
c.2522T>A (p.Ile841Asn)
c.7037T>A (p.Ile2346Asn)
n.8560T>A
5g.13792008T>ACA359218765DNAH5c.8434A>T (p.Ile2812Phe)
c.8389A>T (p.Ile2797Phe)
n.8641A>T
c.8542A>T (p.Ile2848Phe)
c.7447A>T (p.Ile2483Phe)
c.3631A>T (p.Ile1211Phe)
c.3184A>T (p.Ile1062Phe)
c.2521A>T (p.Ile841Phe)
c.7036A>T (p.Ile2346Phe)
n.8559A>T
5g.13792008T>CCA3202826DNAH5c.8434A>G (p.Ile2812Val)
c.8389A>G (p.Ile2797Val)
n.8641A>G
c.8542A>G (p.Ile2848Val)
c.7447A>G (p.Ile2483Val)
c.3631A>G (p.Ile1211Val)
c.3184A>G (p.Ile1062Val)
c.2521A>G (p.Ile841Val)
c.7036A>G (p.Ile2346Val)
n.8559A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792008T>GCA3202827DNAH5c.8434A>C (p.Ile2812Leu)
c.8389A>C (p.Ile2797Leu)
n.8641A>C
c.8542A>C (p.Ile2848Leu)
c.7447A>C (p.Ile2483Leu)
c.3631A>C (p.Ile1211Leu)
c.3184A>C (p.Ile1062Leu)
c.2521A>C (p.Ile841Leu)
c.7036A>C (p.Ile2346Leu)
n.8559A>C
 dbSNP ExAC gnomAD v2
5g.13792008T=CA1528440927DNAH5c.8434A= (p.Ile2812=)
c.8389A= (p.Ile2797=)
n.8641A=
c.8542A= (p.Ile2848=)
c.7447A= (p.Ile2483=)
c.3631A= (p.Ile1211=)
c.3184A= (p.Ile1062=)
c.2521A= (p.Ile841=)
c.7036A= (p.Ile2346=)
n.8559A=
5g.13792009G>ACA113959978DNAH5c.8433C>T (p.Val2811=)
c.8388C>T (p.Val2796=)
n.8640C>T
c.8541C>T (p.Val2847=)
c.7446C>T (p.Val2482=)
c.3630C>T (p.Val1210=)
c.3183C>T (p.Val1061=)
c.2520C>T (p.Val840=)
c.7035C>T (p.Val2345=)
n.8558C>T
 dbSNP gnomAD v4 COSMIC
5g.13792009G>CCA443263340DNAH5c.8433C>G (p.Val2811=)
c.8388C>G (p.Val2796=)
n.8640C>G
c.8541C>G (p.Val2847=)
c.7446C>G (p.Val2482=)
c.3630C>G (p.Val1210=)
c.3183C>G (p.Val1061=)
c.2520C>G (p.Val840=)
c.7035C>G (p.Val2345=)
n.8558C>G
5g.13792009G=CA1528440928DNAH5c.8433C= (p.Val2811=)
c.8388C= (p.Val2796=)
n.8640C=
c.8541C= (p.Val2847=)
c.7446C= (p.Val2482=)
c.3630C= (p.Val1210=)
c.3183C= (p.Val1061=)
c.2520C= (p.Val840=)
c.7035C= (p.Val2345=)
n.8558C=
5g.13792009G>TCA443263337DNAH5c.8433C>A (p.Val2811=)
c.8388C>A (p.Val2796=)
n.8640C>A
c.8541C>A (p.Val2847=)
c.7446C>A (p.Val2482=)
c.3630C>A (p.Val1210=)
c.3183C>A (p.Val1061=)
c.2520C>A (p.Val840=)
c.7035C>A (p.Val2345=)
n.8558C>A
5g.13792010A>CCA359218768DNAH5c.8432T>G (p.Val2811Gly)
c.8387T>G (p.Val2796Gly)
n.8639T>G
c.8540T>G (p.Val2847Gly)
c.7445T>G (p.Val2482Gly)
c.3629T>G (p.Val1210Gly)
c.3182T>G (p.Val1061Gly)
c.2519T>G (p.Val840Gly)
c.7034T>G (p.Val2345Gly)
n.8557T>G
5g.13792010A>GCA359218770DNAH5c.8432T>C (p.Val2811Ala)
c.8387T>C (p.Val2796Ala)
n.8639T>C
c.8540T>C (p.Val2847Ala)
c.7445T>C (p.Val2482Ala)
c.3629T>C (p.Val1210Ala)
c.3182T>C (p.Val1061Ala)
c.2519T>C (p.Val840Ala)
c.7034T>C (p.Val2345Ala)
n.8557T>C
5g.13792010A>TCA359218772DNAH5c.8432T>A (p.Val2811Asp)
c.8387T>A (p.Val2796Asp)
n.8639T>A
c.8540T>A (p.Val2847Asp)
c.7445T>A (p.Val2482Asp)
c.3629T>A (p.Val1210Asp)
c.3182T>A (p.Val1061Asp)
c.2519T>A (p.Val840Asp)
c.7034T>A (p.Val2345Asp)
n.8557T>A
5g.13792011C>ACA359218773DNAH5c.8431G>T (p.Val2811Phe)
c.8386G>T (p.Val2796Phe)
n.8638G>T
c.8539G>T (p.Val2847Phe)
c.7444G>T (p.Val2482Phe)
c.3628G>T (p.Val1210Phe)
c.3181G>T (p.Val1061Phe)
c.2518G>T (p.Val840Phe)
c.7033G>T (p.Val2345Phe)
n.8556G>T
5g.13792011C>GCA359218774DNAH5c.8431G>C (p.Val2811Leu)
c.8386G>C (p.Val2796Leu)
n.8638G>C
c.8539G>C (p.Val2847Leu)
c.7444G>C (p.Val2482Leu)
c.3628G>C (p.Val1210Leu)
c.3181G>C (p.Val1061Leu)
c.2518G>C (p.Val840Leu)
c.7033G>C (p.Val2345Leu)
n.8556G>C
5g.13792011C>TCA359218775DNAH5c.8431G>A (p.Val2811Ile)
c.8386G>A (p.Val2796Ile)
n.8638G>A
c.8539G>A (p.Val2847Ile)
c.7444G>A (p.Val2482Ile)
c.3628G>A (p.Val1210Ile)
c.3181G>A (p.Val1061Ile)
c.2518G>A (p.Val840Ile)
c.7033G>A (p.Val2345Ile)
n.8556G>A
5g.13792012C>ACA359218776DNAH5c.8430G>T (p.Glu2810Asp)
c.8385G>T (p.Glu2795Asp)
n.8637G>T
c.8538G>T (p.Glu2846Asp)
c.7443G>T (p.Glu2481Asp)
c.3627G>T (p.Glu1209Asp)
c.3180G>T (p.Glu1060Asp)
c.2517G>T (p.Glu839Asp)
c.7032G>T (p.Glu2344Asp)
n.8555G>T
 gnomAD v4
5g.13792012C>GCA359218777DNAH5c.8430G>C (p.Glu2810Asp)
c.8385G>C (p.Glu2795Asp)
n.8637G>C
c.8538G>C (p.Glu2846Asp)
c.7443G>C (p.Glu2481Asp)
c.3627G>C (p.Glu1209Asp)
c.3180G>C (p.Glu1060Asp)
c.2517G>C (p.Glu839Asp)
c.7032G>C (p.Glu2344Asp)
n.8555G>C
5g.13792012C>TCA443263346DNAH5c.8430G>A (p.Glu2810=)
c.8385G>A (p.Glu2795=)
n.8637G>A
c.8538G>A (p.Glu2846=)
c.7443G>A (p.Glu2481=)
c.3627G>A (p.Glu1209=)
c.3180G>A (p.Glu1060=)
c.2517G>A (p.Glu839=)
c.7032G>A (p.Glu2344=)
n.8555G>A
5g.13792013T>ACA359218782DNAH5c.8429A>T (p.Glu2810Val)
c.8384A>T (p.Glu2795Val)
n.8636A>T
c.8537A>T (p.Glu2846Val)
c.7442A>T (p.Glu2481Val)
c.3626A>T (p.Glu1209Val)
c.3179A>T (p.Glu1060Val)
c.2516A>T (p.Glu839Val)
c.7031A>T (p.Glu2344Val)
n.8554A>T
 COSMIC
5g.13792013T>CCA359218784DNAH5c.8429A>G (p.Glu2810Gly)
c.8384A>G (p.Glu2795Gly)
n.8636A>G
c.8537A>G (p.Glu2846Gly)
c.7442A>G (p.Glu2481Gly)
c.3626A>G (p.Glu1209Gly)
c.3179A>G (p.Glu1060Gly)
c.2516A>G (p.Glu839Gly)
c.7031A>G (p.Glu2344Gly)
n.8554A>G
5g.13792013T>GCA359218779DNAH5c.8429A>C (p.Glu2810Ala)
c.8384A>C (p.Glu2795Ala)
n.8636A>C
c.8537A>C (p.Glu2846Ala)
c.7442A>C (p.Glu2481Ala)
c.3626A>C (p.Glu1209Ala)
c.3179A>C (p.Glu1060Ala)
c.2516A>C (p.Glu839Ala)
c.7031A>C (p.Glu2344Ala)
n.8554A>C
5g.13792014C>ACA359218786DNAH5c.8428G>T (p.Glu2810Ter)
c.8383G>T (p.Glu2795Ter)
n.8635G>T
c.8536G>T (p.Glu2846Ter)
c.7441G>T (p.Glu2481Ter)
c.3625G>T (p.Glu1209Ter)
c.3178G>T (p.Glu1060Ter)
c.2515G>T (p.Glu839Ter)
c.7030G>T (p.Glu2344Ter)
n.8553G>T
5g.13792014C>GCA359218787DNAH5c.8428G>C (p.Glu2810Gln)
c.8383G>C (p.Glu2795Gln)
n.8635G>C
c.8536G>C (p.Glu2846Gln)
c.7441G>C (p.Glu2481Gln)
c.3625G>C (p.Glu1209Gln)
c.3178G>C (p.Glu1060Gln)
c.2515G>C (p.Glu839Gln)
c.7030G>C (p.Glu2344Gln)
n.8553G>C
5g.13792014C>TCA359218794DNAH5c.8428G>A (p.Glu2810Lys)
c.8383G>A (p.Glu2795Lys)
n.8635G>A
c.8536G>A (p.Glu2846Lys)
c.7441G>A (p.Glu2481Lys)
c.3625G>A (p.Glu1209Lys)
c.3178G>A (p.Glu1060Lys)
c.2515G>A (p.Glu839Lys)
c.7030G>A (p.Glu2344Lys)
n.8553G>A
 dbSNP
5g.13792015T>ACA443263354DNAH5c.8427A>T (p.Ser2809=)
c.8382A>T (p.Ser2794=)
n.8634A>T
c.8535A>T (p.Ser2845=)
c.7440A>T (p.Ser2480=)
c.3624A>T (p.Ser1208=)
c.3177A>T (p.Ser1059=)
c.2514A>T (p.Ser838=)
c.7029A>T (p.Ser2343=)
n.8552A>T
5g.13792015T>CCA443263351DNAH5c.8427A>G (p.Ser2809=)
c.8382A>G (p.Ser2794=)
n.8634A>G
c.8535A>G (p.Ser2845=)
c.7440A>G (p.Ser2480=)
c.3624A>G (p.Ser1208=)
c.3177A>G (p.Ser1059=)
c.2514A>G (p.Ser838=)
c.7029A>G (p.Ser2343=)
n.8552A>G
 gnomAD v4
5g.13792015T>GCA443263352DNAH5c.8427A>C (p.Ser2809=)
c.8382A>C (p.Ser2794=)
n.8634A>C
c.8535A>C (p.Ser2845=)
c.7440A>C (p.Ser2480=)
c.3624A>C (p.Ser1208=)
c.3177A>C (p.Ser1059=)
c.2514A>C (p.Ser838=)
c.7029A>C (p.Ser2343=)
n.8552A>C
5g.13792016G>ACA113960012DNAH5c.8426C>T (p.Ser2809Leu)
c.8381C>T (p.Ser2794Leu)
n.8633C>T
c.8534C>T (p.Ser2845Leu)
c.7439C>T (p.Ser2480Leu)
c.3623C>T (p.Ser1208Leu)
c.3176C>T (p.Ser1059Leu)
c.2513C>T (p.Ser838Leu)
c.7028C>T (p.Ser2343Leu)
n.8551C>T
 dbSNP gnomAD v4 COSMIC
5g.13792016G>CCA359218796DNAH5c.8426C>G (p.Ser2809Ter)
c.8381C>G (p.Ser2794Ter)
n.8633C>G
c.8534C>G (p.Ser2845Ter)
c.7439C>G (p.Ser2480Ter)
c.3623C>G (p.Ser1208Ter)
c.3176C>G (p.Ser1059Ter)
c.2513C>G (p.Ser838Ter)
c.7028C>G (p.Ser2343Ter)
n.8551C>G
5g.13792016G=CA1528440929DNAH5c.8426C= (p.Ser2809=)
c.8381C= (p.Ser2794=)
n.8633C=
c.8534C= (p.Ser2845=)
c.7439C= (p.Ser2480=)
c.3623C= (p.Ser1208=)
c.3176C= (p.Ser1059=)
c.2513C= (p.Ser838=)
c.7028C= (p.Ser2343=)
n.8551C=
5g.13792016G>TCA359218797DNAH5c.8426C>A (p.Ser2809Ter)
c.8381C>A (p.Ser2794Ter)
n.8633C>A
c.8534C>A (p.Ser2845Ter)
c.7439C>A (p.Ser2480Ter)
c.3623C>A (p.Ser1208Ter)
c.3176C>A (p.Ser1059Ter)
c.2513C>A (p.Ser838Ter)
c.7028C>A (p.Ser2343Ter)
n.8551C>A
5g.13792017A=CA1528440930DNAH5c.8425T= (p.Ser2809=)
c.8380T= (p.Ser2794=)
n.8632T=
c.8533T= (p.Ser2845=)
c.7438T= (p.Ser2480=)
c.3622T= (p.Ser1208=)
c.3175T= (p.Ser1059=)
c.2512T= (p.Ser838=)
c.7027T= (p.Ser2343=)
n.8550T=
5g.13792017A>CCA359218799DNAH5c.8425T>G (p.Ser2809Ala)
c.8380T>G (p.Ser2794Ala)
n.8632T>G
c.8533T>G (p.Ser2845Ala)
c.7438T>G (p.Ser2480Ala)
c.3622T>G (p.Ser1208Ala)
c.3175T>G (p.Ser1059Ala)
c.2512T>G (p.Ser838Ala)
c.7027T>G (p.Ser2343Ala)
n.8550T>G
5g.13792017A>GCA359218801DNAH5c.8425T>C (p.Ser2809Pro)
c.8380T>C (p.Ser2794Pro)
n.8632T>C
c.8533T>C (p.Ser2845Pro)
c.7438T>C (p.Ser2480Pro)
c.3622T>C (p.Ser1208Pro)
c.3175T>C (p.Ser1059Pro)
c.2512T>C (p.Ser838Pro)
c.7027T>C (p.Ser2343Pro)
n.8550T>C
5g.13792017A>TCA359218800DNAH5c.8425T>A (p.Ser2809Thr)
c.8380T>A (p.Ser2794Thr)
n.8632T>A
c.8533T>A (p.Ser2845Thr)
c.7438T>A (p.Ser2480Thr)
c.3622T>A (p.Ser1208Thr)
c.3175T>A (p.Ser1059Thr)
c.2512T>A (p.Ser838Thr)
c.7027T>A (p.Ser2343Thr)
n.8550T>A
5g.13792018A>CCA443263360DNAH5c.8424T>G (p.Thr2808=)
c.8379T>G (p.Thr2793=)
n.8631T>G
c.8532T>G (p.Thr2844=)
c.7437T>G (p.Thr2479=)
c.3621T>G (p.Thr1207=)
c.3174T>G (p.Thr1058=)
c.2511T>G (p.Thr837=)
c.7026T>G (p.Thr2342=)
n.8549T>G
5g.13792018A>GCA443263361DNAH5c.8424T>C (p.Thr2808=)
c.8379T>C (p.Thr2793=)
n.8631T>C
c.8532T>C (p.Thr2844=)
c.7437T>C (p.Thr2479=)
c.3621T>C (p.Thr1207=)
c.3174T>C (p.Thr1058=)
c.2511T>C (p.Thr837=)
c.7026T>C (p.Thr2342=)
n.8549T>C
5g.13792018A>TCA443263362DNAH5c.8424T>A (p.Thr2808=)
c.8379T>A (p.Thr2793=)
n.8631T>A
c.8532T>A (p.Thr2844=)
c.7437T>A (p.Thr2479=)
c.3621T>A (p.Thr1207=)
c.3174T>A (p.Thr1058=)
c.2511T>A (p.Thr837=)
c.7026T>A (p.Thr2342=)
n.8549T>A
5g.13792021_13792023dupCA3202828DNAH5c.8422_8424dup (p.Thr2808_Ser2809insThr)
c.8377_8379dup (p.Thr2793_Ser2794insThr)
n.8629_8631dup
c.8530_8532dup (p.Thr2844_Ser2845insThr)
c.7435_7437dup (p.Thr2479_Ser2480insThr)
c.3619_3621dup (p.Thr1207_Ser1208insThr)
c.3172_3174dup (p.Thr1058_Ser1059insThr)
c.2509_2511dup (p.Thr837_Ser838insThr)
c.7024_7026dup (p.Thr2342_Ser2343insThr)
n.8547_8549dup
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792019G>ACA359218804DNAH5c.8423C>T (p.Thr2808Ile)
c.8378C>T (p.Thr2793Ile)
n.8630C>T
c.8531C>T (p.Thr2844Ile)
c.7436C>T (p.Thr2479Ile)
c.3620C>T (p.Thr1207Ile)
c.3173C>T (p.Thr1058Ile)
c.2510C>T (p.Thr837Ile)
c.7025C>T (p.Thr2342Ile)
n.8548C>T
 dbSNP gnomAD v4 COSMIC
5g.13792019G>CCA359218806DNAH5c.8423C>G (p.Thr2808Ser)
c.8378C>G (p.Thr2793Ser)
n.8630C>G
c.8531C>G (p.Thr2844Ser)
c.7436C>G (p.Thr2479Ser)
c.3620C>G (p.Thr1207Ser)
c.3173C>G (p.Thr1058Ser)
c.2510C>G (p.Thr837Ser)
c.7025C>G (p.Thr2342Ser)
n.8548C>G
 gnomAD v4
5g.13792019G=CA1528440931DNAH5c.8423C= (p.Thr2808=)
c.8378C= (p.Thr2793=)
n.8630C=
c.8531C= (p.Thr2844=)
c.7436C= (p.Thr2479=)
c.3620C= (p.Thr1207=)
c.3173C= (p.Thr1058=)
c.2510C= (p.Thr837=)
c.7025C= (p.Thr2342=)
n.8548C=
5g.13792019G>TCA359218808DNAH5c.8423C>A (p.Thr2808Asn)
c.8378C>A (p.Thr2793Asn)
n.8630C>A
c.8531C>A (p.Thr2844Asn)
c.7436C>A (p.Thr2479Asn)
c.3620C>A (p.Thr1207Asn)
c.3173C>A (p.Thr1058Asn)
c.2510C>A (p.Thr837Asn)
c.7025C>A (p.Thr2342Asn)
n.8548C>A
5g.13792020T>ACA359218813DNAH5c.8422A>T (p.Thr2808Ser)
c.8377A>T (p.Thr2793Ser)
n.8629A>T
c.8530A>T (p.Thr2844Ser)
c.7435A>T (p.Thr2479Ser)
c.3619A>T (p.Thr1207Ser)
c.3172A>T (p.Thr1058Ser)
c.2509A>T (p.Thr837Ser)
c.7024A>T (p.Thr2342Ser)
n.8547A>T
5g.13792020T>CCA359218812DNAH5c.8422A>G (p.Thr2808Ala)
c.8377A>G (p.Thr2793Ala)
n.8629A>G
c.8530A>G (p.Thr2844Ala)
c.7435A>G (p.Thr2479Ala)
c.3619A>G (p.Thr1207Ala)
c.3172A>G (p.Thr1058Ala)
c.2509A>G (p.Thr837Ala)
c.7024A>G (p.Thr2342Ala)
n.8547A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13792020T>GCA359218810DNAH5c.8422A>C (p.Thr2808Pro)
c.8377A>C (p.Thr2793Pro)
n.8629A>C
c.8530A>C (p.Thr2844Pro)
c.7435A>C (p.Thr2479Pro)
c.3619A>C (p.Thr1207Pro)
c.3172A>C (p.Thr1058Pro)
c.2509A>C (p.Thr837Pro)
c.7024A>C (p.Thr2342Pro)
n.8547A>C
5g.13792020T=CA1528440932DNAH5c.8422A= (p.Thr2808=)
c.8377A= (p.Thr2793=)
n.8629A=
c.8530A= (p.Thr2844=)
c.7435A= (p.Thr2479=)
c.3619A= (p.Thr1207=)
c.3172A= (p.Thr1058=)
c.2509A= (p.Thr837=)
c.7024A= (p.Thr2342=)
n.8547A=
5g.13792021A>CCA443263366DNAH5c.8421T>G (p.Thr2807=)
c.8376T>G (p.Thr2792=)
n.8628T>G
c.8529T>G (p.Thr2843=)
c.7434T>G (p.Thr2478=)
c.3618T>G (p.Thr1206=)
c.3171T>G (p.Thr1057=)
c.2508T>G (p.Thr836=)
c.7023T>G (p.Thr2341=)
n.8546T>G
5g.13792021A>GCA443263367DNAH5c.8421T>C (p.Thr2807=)
c.8376T>C (p.Thr2792=)
n.8628T>C
c.8529T>C (p.Thr2843=)
c.7434T>C (p.Thr2478=)
c.3618T>C (p.Thr1206=)
c.3171T>C (p.Thr1057=)
c.2508T>C (p.Thr836=)
c.7023T>C (p.Thr2341=)
n.8546T>C
5g.13792021A>TCA443263368DNAH5c.8421T>A (p.Thr2807=)
c.8376T>A (p.Thr2792=)
n.8628T>A
c.8529T>A (p.Thr2843=)
c.7434T>A (p.Thr2478=)
c.3618T>A (p.Thr1206=)
c.3171T>A (p.Thr1057=)
c.2508T>A (p.Thr836=)
c.7023T>A (p.Thr2341=)
n.8546T>A
5g.13792022G>ACA359218815DNAH5c.8420C>T (p.Thr2807Ile)
c.8375C>T (p.Thr2792Ile)
n.8627C>T
c.8528C>T (p.Thr2843Ile)
c.7433C>T (p.Thr2478Ile)
c.3617C>T (p.Thr1206Ile)
c.3170C>T (p.Thr1057Ile)
c.2507C>T (p.Thr836Ile)
c.7022C>T (p.Thr2341Ile)
n.8545C>T
 gnomAD v4
5g.13792022G>CCA359218818DNAH5c.8420C>G (p.Thr2807Ser)
c.8375C>G (p.Thr2792Ser)
n.8627C>G
c.8528C>G (p.Thr2843Ser)
c.7433C>G (p.Thr2478Ser)
c.3617C>G (p.Thr1206Ser)
c.3170C>G (p.Thr1057Ser)
c.2507C>G (p.Thr836Ser)
c.7022C>G (p.Thr2341Ser)
n.8545C>G
 gnomAD v4
5g.13792022G>TCA359218816DNAH5c.8420C>A (p.Thr2807Asn)
c.8375C>A (p.Thr2792Asn)
n.8627C>A
c.8528C>A (p.Thr2843Asn)
c.7433C>A (p.Thr2478Asn)
c.3617C>A (p.Thr1206Asn)
c.3170C>A (p.Thr1057Asn)
c.2507C>A (p.Thr836Asn)
c.7022C>A (p.Thr2341Asn)
n.8545C>A
5g.13792023T>ACA359218820DNAH5c.8419A>T (p.Thr2807Ser)
c.8374A>T (p.Thr2792Ser)
n.8626A>T
c.8527A>T (p.Thr2843Ser)
c.7432A>T (p.Thr2478Ser)
c.3616A>T (p.Thr1206Ser)
c.3169A>T (p.Thr1057Ser)
c.2506A>T (p.Thr836Ser)
c.7021A>T (p.Thr2341Ser)
n.8544A>T
5g.13792023T>CCA359218829DNAH5c.8419A>G (p.Thr2807Ala)
c.8374A>G (p.Thr2792Ala)
n.8626A>G
c.8527A>G (p.Thr2843Ala)
c.7432A>G (p.Thr2478Ala)
c.3616A>G (p.Thr1206Ala)
c.3169A>G (p.Thr1057Ala)
c.2506A>G (p.Thr836Ala)
c.7021A>G (p.Thr2341Ala)
n.8544A>G
 dbSNP gnomAD v4
5g.13792023T>GCA359218834DNAH5c.8419A>C (p.Thr2807Pro)
c.8374A>C (p.Thr2792Pro)
n.8626A>C
c.8527A>C (p.Thr2843Pro)
c.7432A>C (p.Thr2478Pro)
c.3616A>C (p.Thr1206Pro)
c.3169A>C (p.Thr1057Pro)
c.2506A>C (p.Thr836Pro)
c.7021A>C (p.Thr2341Pro)
n.8544A>C
 dbSNP gnomAD v2 gnomAD v4
5g.13792023T=CA1528440933DNAH5c.8419A= (p.Thr2807=)
c.8374A= (p.Thr2792=)
n.8626A=
c.8527A= (p.Thr2843=)
c.7432A= (p.Thr2478=)
c.3616A= (p.Thr1206=)
c.3169A= (p.Thr1057=)
c.2506A= (p.Thr836=)
c.7021A= (p.Thr2341=)
n.8544A=
5g.13792024G>ACA113960023DNAH5c.8418C>T (p.Asn2806=)
c.8373C>T (p.Asn2791=)
n.8625C>T
c.8526C>T (p.Asn2842=)
c.7431C>T (p.Asn2477=)
c.3615C>T (p.Asn1205=)
c.3168C>T (p.Asn1056=)
c.2505C>T (p.Asn835=)
c.7020C>T (p.Asn2340=)
n.8543C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792024G>CCA359218838DNAH5c.8418C>G (p.Asn2806Lys)
c.8373C>G (p.Asn2791Lys)
n.8625C>G
c.8526C>G (p.Asn2842Lys)
c.7431C>G (p.Asn2477Lys)
c.3615C>G (p.Asn1205Lys)
c.3168C>G (p.Asn1056Lys)
c.2505C>G (p.Asn835Lys)
c.7020C>G (p.Asn2340Lys)
n.8543C>G
5g.13792024G=CA1528440934DNAH5c.8418C= (p.Asn2806=)
c.8373C= (p.Asn2791=)
n.8625C=
c.8526C= (p.Asn2842=)
c.7431C= (p.Asn2477=)
c.3615C= (p.Asn1205=)
c.3168C= (p.Asn1056=)
c.2505C= (p.Asn835=)
c.7020C= (p.Asn2340=)
n.8543C=
5g.13792024G>TCA3202829DNAH5c.8418C>A (p.Asn2806Lys)
c.8373C>A (p.Asn2791Lys)
n.8625C>A
c.8526C>A (p.Asn2842Lys)
c.7431C>A (p.Asn2477Lys)
c.3615C>A (p.Asn1205Lys)
c.3168C>A (p.Asn1056Lys)
c.2505C>A (p.Asn835Lys)
c.7020C>A (p.Asn2340Lys)
n.8543C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13792025T>ACA359218844DNAH5c.8417A>T (p.Asn2806Ile)
c.8372A>T (p.Asn2791Ile)
n.8624A>T
c.8525A>T (p.Asn2842Ile)
c.7430A>T (p.Asn2477Ile)
c.3614A>T (p.Asn1205Ile)
c.3167A>T (p.Asn1056Ile)
c.2504A>T (p.Asn835Ile)
c.7019A>T (p.Asn2340Ile)
n.8542A>T
5g.13792025T>CCA359218847DNAH5c.8417A>G (p.Asn2806Ser)
c.8372A>G (p.Asn2791Ser)
n.8624A>G
c.8525A>G (p.Asn2842Ser)
c.7430A>G (p.Asn2477Ser)
c.3614A>G (p.Asn1205Ser)
c.3167A>G (p.Asn1056Ser)
c.2504A>G (p.Asn835Ser)
c.7019A>G (p.Asn2340Ser)
n.8542A>G
5g.13792025T>GCA359218851DNAH5c.8417A>C (p.Asn2806Thr)
c.8372A>C (p.Asn2791Thr)
n.8624A>C
c.8525A>C (p.Asn2842Thr)
c.7430A>C (p.Asn2477Thr)
c.3614A>C (p.Asn1205Thr)
c.3167A>C (p.Asn1056Thr)
c.2504A>C (p.Asn835Thr)
c.7019A>C (p.Asn2340Thr)
n.8542A>C
5g.13792026T>ACA359218855DNAH5c.8416A>T (p.Asn2806Tyr)
c.8371A>T (p.Asn2791Tyr)
n.8623A>T
c.8524A>T (p.Asn2842Tyr)
c.7429A>T (p.Asn2477Tyr)
c.3613A>T (p.Asn1205Tyr)
c.3166A>T (p.Asn1056Tyr)
c.2503A>T (p.Asn835Tyr)
c.7018A>T (p.Asn2340Tyr)
n.8541A>T
5g.13792026T>CCA359218858DNAH5c.8416A>G (p.Asn2806Asp)
c.8371A>G (p.Asn2791Asp)
n.8623A>G
c.8524A>G (p.Asn2842Asp)
c.7429A>G (p.Asn2477Asp)
c.3613A>G (p.Asn1205Asp)
c.3166A>G (p.Asn1056Asp)
c.2503A>G (p.Asn835Asp)
c.7018A>G (p.Asn2340Asp)
n.8541A>G
5g.13792026T>GCA359218861DNAH5c.8416A>C (p.Asn2806His)
c.8371A>C (p.Asn2791His)
n.8623A>C
c.8524A>C (p.Asn2842His)
c.7429A>C (p.Asn2477His)
c.3613A>C (p.Asn1205His)
c.3166A>C (p.Asn1056His)
c.2503A>C (p.Asn835His)
c.7018A>C (p.Asn2340His)
n.8541A>C
5g.13792027C>ACA443263379DNAH5c.8415G>T (p.Leu2805=)
c.8370G>T (p.Leu2790=)
n.8622G>T
c.8523G>T (p.Leu2841=)
c.7428G>T (p.Leu2476=)
c.3612G>T (p.Leu1204=)
c.3165G>T (p.Leu1055=)
c.2502G>T (p.Leu834=)
c.7017G>T (p.Leu2339=)
n.8540G>T
 gnomAD v4
5g.13792027C>GCA443263380DNAH5c.8415G>C (p.Leu2805=)
c.8370G>C (p.Leu2790=)
n.8622G>C
c.8523G>C (p.Leu2841=)
c.7428G>C (p.Leu2476=)
c.3612G>C (p.Leu1204=)
c.3165G>C (p.Leu1055=)
c.2502G>C (p.Leu834=)
c.7017G>C (p.Leu2339=)
n.8540G>C
5g.13792027C>TCA443263381DNAH5c.8415G>A (p.Leu2805=)
c.8370G>A (p.Leu2790=)
n.8622G>A
c.8523G>A (p.Leu2841=)
c.7428G>A (p.Leu2476=)
c.3612G>A (p.Leu1204=)
c.3165G>A (p.Leu1055=)
c.2502G>A (p.Leu834=)
c.7017G>A (p.Leu2339=)
n.8540G>A
5g.13792028A=CA1528440935DNAH5c.8414T= (p.Leu2805=)
c.8369T= (p.Leu2790=)
n.8621T=
c.8522T= (p.Leu2841=)
c.7427T= (p.Leu2476=)
c.3611T= (p.Leu1204=)
c.3164T= (p.Leu1055=)
c.2501T= (p.Leu834=)
c.7016T= (p.Leu2339=)
n.8539T=
5g.13792028A>CCA359218879DNAH5c.8414T>G (p.Leu2805Arg)
c.8369T>G (p.Leu2790Arg)
n.8621T>G
c.8522T>G (p.Leu2841Arg)
c.7427T>G (p.Leu2476Arg)
c.3611T>G (p.Leu1204Arg)
c.3164T>G (p.Leu1055Arg)
c.2501T>G (p.Leu834Arg)
c.7016T>G (p.Leu2339Arg)
n.8539T>G
 COSMIC
5g.13792028A>GCA359218874DNAH5c.8414T>C (p.Leu2805Pro)
c.8369T>C (p.Leu2790Pro)
n.8621T>C
c.8522T>C (p.Leu2841Pro)
c.7427T>C (p.Leu2476Pro)
c.3611T>C (p.Leu1204Pro)
c.3164T>C (p.Leu1055Pro)
c.2501T>C (p.Leu834Pro)
c.7016T>C (p.Leu2339Pro)
n.8539T>C
 dbSNP
5g.13792028A>TCA359218876DNAH5c.8414T>A (p.Leu2805Gln)
c.8369T>A (p.Leu2790Gln)
n.8621T>A
c.8522T>A (p.Leu2841Gln)
c.7427T>A (p.Leu2476Gln)
c.3611T>A (p.Leu1204Gln)
c.3164T>A (p.Leu1055Gln)
c.2501T>A (p.Leu834Gln)
c.7016T>A (p.Leu2339Gln)
n.8539T>A
5g.13792029G>ACA443263386DNAH5c.8413C>T (p.Leu2805=)
c.8368C>T (p.Leu2790=)
n.8620C>T
c.8521C>T (p.Leu2841=)
c.7426C>T (p.Leu2476=)
c.3610C>T (p.Leu1204=)
c.3163C>T (p.Leu1055=)
c.2500C>T (p.Leu834=)
c.7015C>T (p.Leu2339=)
n.8538C>T
5g.13792029G>CCA359218887DNAH5c.8413C>G (p.Leu2805Val)
c.8368C>G (p.Leu2790Val)
n.8620C>G
c.8521C>G (p.Leu2841Val)
c.7426C>G (p.Leu2476Val)
c.3610C>G (p.Leu1204Val)
c.3163C>G (p.Leu1055Val)
c.2500C>G (p.Leu834Val)
c.7015C>G (p.Leu2339Val)
n.8538C>G
5g.13792029G>TCA359218889DNAH5c.8413C>A (p.Leu2805Met)
c.8368C>A (p.Leu2790Met)
n.8620C>A
c.8521C>A (p.Leu2841Met)
c.7426C>A (p.Leu2476Met)
c.3610C>A (p.Leu1204Met)
c.3163C>A (p.Leu1055Met)
c.2500C>A (p.Leu834Met)
c.7015C>A (p.Leu2339Met)
n.8538C>A
5g.13792030C>ACA359218892DNAH5c.8412G>T (p.Met2804Ile)
c.8367G>T (p.Met2789Ile)
n.8619G>T
c.8520G>T (p.Met2840Ile)
c.7425G>T (p.Met2475Ile)
c.3609G>T (p.Met1203Ile)
c.3162G>T (p.Met1054Ile)
c.2499G>T (p.Met833Ile)
c.7014G>T (p.Met2338Ile)
n.8537G>T
5g.13792030C=CA1528440936DNAH5c.8412G= (p.Met2804=)
c.8367G= (p.Met2789=)
n.8619G=
c.8520G= (p.Met2840=)
c.7425G= (p.Met2475=)
c.3609G= (p.Met1203=)
c.3162G= (p.Met1054=)
c.2499G= (p.Met833=)
c.7014G= (p.Met2338=)
n.8537G=
5g.13792030C>GCA359218895DNAH5c.8412G>C (p.Met2804Ile)
c.8367G>C (p.Met2789Ile)
n.8619G>C
c.8520G>C (p.Met2840Ile)
c.7425G>C (p.Met2475Ile)
c.3609G>C (p.Met1203Ile)
c.3162G>C (p.Met1054Ile)
c.2499G>C (p.Met833Ile)
c.7014G>C (p.Met2338Ile)
n.8537G>C
5g.13792030C>TCA3202830DNAH5c.8412G>A (p.Met2804Ile)
c.8367G>A (p.Met2789Ile)
n.8619G>A
c.8520G>A (p.Met2840Ile)
c.7425G>A (p.Met2475Ile)
c.3609G>A (p.Met1203Ile)
c.3162G>A (p.Met1054Ile)
c.2499G>A (p.Met833Ile)
c.7014G>A (p.Met2338Ile)
n.8537G>A
 dbSNP ExAC gnomAD v2
5g.13792031A>CCA359218902DNAH5c.8411T>G (p.Met2804Arg)
c.8366T>G (p.Met2789Arg)
n.8618T>G
c.8519T>G (p.Met2840Arg)
c.7424T>G (p.Met2475Arg)
c.3608T>G (p.Met1203Arg)
c.3161T>G (p.Met1054Arg)
c.2498T>G (p.Met833Arg)
c.7013T>G (p.Met2338Arg)
n.8536T>G
5g.13792031A>GCA359218905DNAH5c.8411T>C (p.Met2804Thr)
c.8366T>C (p.Met2789Thr)
n.8618T>C
c.8519T>C (p.Met2840Thr)
c.7424T>C (p.Met2475Thr)
c.3608T>C (p.Met1203Thr)
c.3161T>C (p.Met1054Thr)
c.2498T>C (p.Met833Thr)
c.7013T>C (p.Met2338Thr)
n.8536T>C
5g.13792031A>TCA359218907DNAH5c.8411T>A (p.Met2804Lys)
c.8366T>A (p.Met2789Lys)
n.8618T>A
c.8519T>A (p.Met2840Lys)
c.7424T>A (p.Met2475Lys)
c.3608T>A (p.Met1203Lys)
c.3161T>A (p.Met1054Lys)
c.2498T>A (p.Met833Lys)
c.7013T>A (p.Met2338Lys)
n.8536T>A
5g.13792032T>ACA359218909DNAH5c.8410A>T (p.Met2804Leu)
c.8365A>T (p.Met2789Leu)
n.8617A>T
c.8518A>T (p.Met2840Leu)
c.7423A>T (p.Met2475Leu)
c.3607A>T (p.Met1203Leu)
c.3160A>T (p.Met1054Leu)
c.2497A>T (p.Met833Leu)
c.7012A>T (p.Met2338Leu)
n.8535A>T
 gnomAD v4
5g.13792032T>CCA3202831DNAH5c.8410A>G (p.Met2804Val)
c.8365A>G (p.Met2789Val)
n.8617A>G
c.8518A>G (p.Met2840Val)
c.7423A>G (p.Met2475Val)
c.3607A>G (p.Met1203Val)
c.3160A>G (p.Met1054Val)
c.2497A>G (p.Met833Val)
c.7012A>G (p.Met2338Val)
n.8535A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13792032T>GCA359218915DNAH5c.8410A>C (p.Met2804Leu)
c.8365A>C (p.Met2789Leu)
n.8617A>C
c.8518A>C (p.Met2840Leu)
c.7423A>C (p.Met2475Leu)
c.3607A>C (p.Met1203Leu)
c.3160A>C (p.Met1054Leu)
c.2497A>C (p.Met833Leu)
c.7012A>C (p.Met2338Leu)
n.8535A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792032T=CA1528440937DNAH5c.8410A= (p.Met2804=)
c.8365A= (p.Met2789=)
n.8617A=
c.8518A= (p.Met2840=)
c.7423A= (p.Met2475=)
c.3607A= (p.Met1203=)
c.3160A= (p.Met1054=)
c.2497A= (p.Met833=)
c.7012A= (p.Met2338=)
n.8535A=
5g.13792033T>ACA443263389DNAH5c.8409A>T (p.Gly2803=)
c.8364A>T (p.Gly2788=)
n.8616A>T
c.8517A>T (p.Gly2839=)
c.7422A>T (p.Gly2474=)
c.3606A>T (p.Gly1202=)
c.3159A>T (p.Gly1053=)
c.2496A>T (p.Gly832=)
c.7011A>T (p.Gly2337=)
n.8534A>T
5g.13792033T>CCA443263390DNAH5c.8409A>G (p.Gly2803=)
c.8364A>G (p.Gly2788=)
n.8616A>G
c.8517A>G (p.Gly2839=)
c.7422A>G (p.Gly2474=)
c.3606A>G (p.Gly1202=)
c.3159A>G (p.Gly1053=)
c.2496A>G (p.Gly832=)
c.7011A>G (p.Gly2337=)
n.8534A>G
 ClinVar dbSNP
5g.13792033T>GCA443263391DNAH5c.8409A>C (p.Gly2803=)
c.8364A>C (p.Gly2788=)
n.8616A>C
c.8517A>C (p.Gly2839=)
c.7422A>C (p.Gly2474=)
c.3606A>C (p.Gly1202=)
c.3159A>C (p.Gly1053=)
c.2496A>C (p.Gly832=)
c.7011A>C (p.Gly2337=)
n.8534A>C
5g.13792034C>ACA359218921DNAH5c.8408G>T (p.Gly2803Val)
c.8363G>T (p.Gly2788Val)
n.8615G>T
c.8516G>T (p.Gly2839Val)
c.7421G>T (p.Gly2474Val)
c.3605G>T (p.Gly1202Val)
c.3158G>T (p.Gly1053Val)
c.2495G>T (p.Gly832Val)
c.7010G>T (p.Gly2337Val)
n.8533G>T
5g.13792034C>GCA359218928DNAH5c.8408G>C (p.Gly2803Ala)
c.8363G>C (p.Gly2788Ala)
n.8615G>C
c.8516G>C (p.Gly2839Ala)
c.7421G>C (p.Gly2474Ala)
c.3605G>C (p.Gly1202Ala)
c.3158G>C (p.Gly1053Ala)
c.2495G>C (p.Gly832Ala)
c.7010G>C (p.Gly2337Ala)
n.8533G>C
5g.13792034C>TCA359218918DNAH5c.8408G>A (p.Gly2803Glu)
c.8363G>A (p.Gly2788Glu)
n.8615G>A
c.8516G>A (p.Gly2839Glu)
c.7421G>A (p.Gly2474Glu)
c.3605G>A (p.Gly1202Glu)
c.3158G>A (p.Gly1053Glu)
c.2495G>A (p.Gly832Glu)
c.7010G>A (p.Gly2337Glu)
n.8533G>A
 gnomAD v4
5g.13792035C>ACA359218930DNAH5c.8407G>T (p.Gly2803Ter)
c.8362G>T (p.Gly2788Ter)
n.8614G>T
c.8515G>T (p.Gly2839Ter)
c.7420G>T (p.Gly2474Ter)
c.3604G>T (p.Gly1202Ter)
c.3157G>T (p.Gly1053Ter)
c.2494G>T (p.Gly832Ter)
c.7009G>T (p.Gly2337Ter)
n.8532G>T
5g.13792035C>GCA359218932DNAH5c.8407G>C (p.Gly2803Arg)
c.8362G>C (p.Gly2788Arg)
n.8614G>C
c.8515G>C (p.Gly2839Arg)
c.7420G>C (p.Gly2474Arg)
c.3604G>C (p.Gly1202Arg)
c.3157G>C (p.Gly1053Arg)
c.2494G>C (p.Gly832Arg)
c.7009G>C (p.Gly2337Arg)
n.8532G>C
5g.13792035C>TCA359218935DNAH5c.8407G>A (p.Gly2803Arg)
c.8362G>A (p.Gly2788Arg)
n.8614G>A
c.8515G>A (p.Gly2839Arg)
c.7420G>A (p.Gly2474Arg)
c.3604G>A (p.Gly1202Arg)
c.3157G>A (p.Gly1053Arg)
c.2494G>A (p.Gly832Arg)
c.7009G>A (p.Gly2337Arg)
n.8532G>A
5g.13792036C>ACA359218938DNAH5c.8406G>T (p.Gln2802His)
c.8361G>T (p.Gln2787His)
n.8613G>T
c.8514G>T (p.Gln2838His)
c.7419G>T (p.Gln2473His)
c.3603G>T (p.Gln1201His)
c.3156G>T (p.Gln1052His)
c.2493G>T (p.Gln831His)
c.7008G>T (p.Gln2336His)
n.8531G>T
5g.13792036C>GCA359218941DNAH5c.8406G>C (p.Gln2802His)
c.8361G>C (p.Gln2787His)
n.8613G>C
c.8514G>C (p.Gln2838His)
c.7419G>C (p.Gln2473His)
c.3603G>C (p.Gln1201His)
c.3156G>C (p.Gln1052His)
c.2493G>C (p.Gln831His)
c.7008G>C (p.Gln2336His)
n.8531G>C
5g.13792036C>TCA443263393DNAH5c.8406G>A (p.Gln2802=)
c.8361G>A (p.Gln2787=)
n.8613G>A
c.8514G>A (p.Gln2838=)
c.7419G>A (p.Gln2473=)
c.3603G>A (p.Gln1201=)
c.3156G>A (p.Gln1052=)
c.2493G>A (p.Gln831=)
c.7008G>A (p.Gln2336=)
n.8531G>A
5g.13792037T>ACA359218950DNAH5c.8405A>T (p.Gln2802Leu)
c.8360A>T (p.Gln2787Leu)
n.8612A>T
c.8513A>T (p.Gln2838Leu)
c.7418A>T (p.Gln2473Leu)
c.3602A>T (p.Gln1201Leu)
c.3155A>T (p.Gln1052Leu)
c.2492A>T (p.Gln831Leu)
c.7007A>T (p.Gln2336Leu)
n.8530A>T
5g.13792037T>CCA359218947DNAH5c.8405A>G (p.Gln2802Arg)
c.8360A>G (p.Gln2787Arg)
n.8612A>G
c.8513A>G (p.Gln2838Arg)
c.7418A>G (p.Gln2473Arg)
c.3602A>G (p.Gln1201Arg)
c.3155A>G (p.Gln1052Arg)
c.2492A>G (p.Gln831Arg)
c.7007A>G (p.Gln2336Arg)
n.8530A>G
 gnomAD v4
5g.13792037T>GCA359218944DNAH5c.8405A>C (p.Gln2802Pro)
c.8360A>C (p.Gln2787Pro)
n.8612A>C
c.8513A>C (p.Gln2838Pro)
c.7418A>C (p.Gln2473Pro)
c.3602A>C (p.Gln1201Pro)
c.3155A>C (p.Gln1052Pro)
c.2492A>C (p.Gln831Pro)
c.7007A>C (p.Gln2336Pro)
n.8530A>C
5g.13792038G>ACA359218951DNAH5c.8404C>T (p.Gln2802Ter)
c.8359C>T (p.Gln2787Ter)
n.8611C>T
c.8512C>T (p.Gln2838Ter)
c.7417C>T (p.Gln2473Ter)
c.3601C>T (p.Gln1201Ter)
c.3154C>T (p.Gln1052Ter)
c.2491C>T (p.Gln831Ter)
c.7006C>T (p.Gln2336Ter)
n.8529C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13792038G>CCA359218954DNAH5c.8404C>G (p.Gln2802Glu)
c.8359C>G (p.Gln2787Glu)
n.8611C>G
c.8512C>G (p.Gln2838Glu)
c.7417C>G (p.Gln2473Glu)
c.3601C>G (p.Gln1201Glu)
c.3154C>G (p.Gln1052Glu)
c.2491C>G (p.Gln831Glu)
c.7006C>G (p.Gln2336Glu)
n.8529C>G
 gnomAD v4
5g.13792038G=CA1528440938DNAH5c.8404C= (p.Gln2802=)
c.8359C= (p.Gln2787=)
n.8611C=
c.8512C= (p.Gln2838=)
c.7417C= (p.Gln2473=)
c.3601C= (p.Gln1201=)
c.3154C= (p.Gln1052=)
c.2491C= (p.Gln831=)
c.7006C= (p.Gln2336=)
n.8529C=
5g.13792038G>TCA359218957DNAH5c.8404C>A (p.Gln2802Lys)
c.8359C>A (p.Gln2787Lys)
n.8611C>A
c.8512C>A (p.Gln2838Lys)
c.7417C>A (p.Gln2473Lys)
c.3601C>A (p.Gln1201Lys)
c.3154C>A (p.Gln1052Lys)
c.2491C>A (p.Gln831Lys)
c.7006C>A (p.Gln2336Lys)
n.8529C>A
5g.13792039C>ACA359218960DNAH5c.8403G>T (p.Trp2801Cys)
c.8358G>T (p.Trp2786Cys)
n.8610G>T
c.8511G>T (p.Trp2837Cys)
c.7416G>T (p.Trp2472Cys)
c.3600G>T (p.Trp1200Cys)
c.3153G>T (p.Trp1051Cys)
c.2490G>T (p.Trp830Cys)
c.7005G>T (p.Trp2335Cys)
n.8528G>T
 gnomAD v4
5g.13792039C>GCA359218969DNAH5c.8403G>C (p.Trp2801Cys)
c.8358G>C (p.Trp2786Cys)
n.8610G>C
c.8511G>C (p.Trp2837Cys)
c.7416G>C (p.Trp2472Cys)
c.3600G>C (p.Trp1200Cys)
c.3153G>C (p.Trp1051Cys)
c.2490G>C (p.Trp830Cys)
c.7005G>C (p.Trp2335Cys)
n.8528G>C
5g.13792039C>TCA359218972DNAH5c.8403G>A (p.Trp2801Ter)
c.8358G>A (p.Trp2786Ter)
n.8610G>A
c.8511G>A (p.Trp2837Ter)
c.7416G>A (p.Trp2472Ter)
c.3600G>A (p.Trp1200Ter)
c.3153G>A (p.Trp1051Ter)
c.2490G>A (p.Trp830Ter)
c.7005G>A (p.Trp2335Ter)
n.8528G>A
5g.13792040delCA2580072136DNAH5c.8403del (p.Trp2801CysfsTer5)
c.8358del (p.Trp2786CysfsTer5)
n.8610del
c.8511del (p.Trp2837CysfsTer5)
c.7416del (p.Trp2472CysfsTer5)
c.3600del (p.Trp1200CysfsTer5)
c.3153del (p.Trp1051CysfsTer5)
c.2490del (p.Trp830CysfsTer5)
c.7005del (p.Trp2335CysfsTer5)
n.8528del
 ClinVar
5g.13792040C>ACA359218973DNAH5c.8402G>T (p.Trp2801Leu)
c.8357G>T (p.Trp2786Leu)
n.8609G>T
c.8510G>T (p.Trp2837Leu)
c.7415G>T (p.Trp2472Leu)
c.3599G>T (p.Trp1200Leu)
c.3152G>T (p.Trp1051Leu)
c.2489G>T (p.Trp830Leu)
c.7004G>T (p.Trp2335Leu)
n.8527G>T
5g.13792040C=CA1528440939DNAH5c.8402G= (p.Trp2801=)
c.8357G= (p.Trp2786=)
n.8609G=
c.8510G= (p.Trp2837=)
c.7415G= (p.Trp2472=)
c.3599G= (p.Trp1200=)
c.3152G= (p.Trp1051=)
c.2489G= (p.Trp830=)
c.7004G= (p.Trp2335=)
n.8527G=
5g.13792040C>GCA359218979DNAH5c.8402G>C (p.Trp2801Ser)
c.8357G>C (p.Trp2786Ser)
n.8609G>C
c.8510G>C (p.Trp2837Ser)
c.7415G>C (p.Trp2472Ser)
c.3599G>C (p.Trp1200Ser)
c.3152G>C (p.Trp1051Ser)
c.2489G>C (p.Trp830Ser)
c.7004G>C (p.Trp2335Ser)
n.8527G>C
5g.13792040C>TCA359218976DNAH5c.8402G>A (p.Trp2801Ter)
c.8357G>A (p.Trp2786Ter)
n.8609G>A
c.8510G>A (p.Trp2837Ter)
c.7415G>A (p.Trp2472Ter)
c.3599G>A (p.Trp1200Ter)
c.3152G>A (p.Trp1051Ter)
c.2489G>A (p.Trp830Ter)
c.7004G>A (p.Trp2335Ter)
n.8527G>A
 dbSNP gnomAD v4
5g.13792041A>CCA359218983DNAH5c.8401T>G (p.Trp2801Gly)
c.8356T>G (p.Trp2786Gly)
n.8608T>G
c.8509T>G (p.Trp2837Gly)
c.7414T>G (p.Trp2472Gly)
c.3598T>G (p.Trp1200Gly)
c.3151T>G (p.Trp1051Gly)
c.2488T>G (p.Trp830Gly)
c.7003T>G (p.Trp2335Gly)
n.8526T>G
5g.13792041A>GCA359218985DNAH5c.8401T>C (p.Trp2801Arg)
c.8356T>C (p.Trp2786Arg)
n.8608T>C
c.8509T>C (p.Trp2837Arg)
c.7414T>C (p.Trp2472Arg)
c.3598T>C (p.Trp1200Arg)
c.3151T>C (p.Trp1051Arg)
c.2488T>C (p.Trp830Arg)
c.7003T>C (p.Trp2335Arg)
n.8526T>C
5g.13792041A>TCA359219004DNAH5c.8401T>A (p.Trp2801Arg)
c.8356T>A (p.Trp2786Arg)
n.8608T>A
c.8509T>A (p.Trp2837Arg)
c.7414T>A (p.Trp2472Arg)
c.3598T>A (p.Trp1200Arg)
c.3151T>A (p.Trp1051Arg)
c.2488T>A (p.Trp830Arg)
c.7003T>A (p.Trp2335Arg)
n.8526T>A
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

Number of alleles fetched