Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13793475_13793563delCA2673271229DNAH5c.8177_8224+41del
c.8132_8179+41del
n.8384_8431+41del
c.8285_8332+41del
c.7190_7237+41del
c.3374_3421+41del
c.2927_2974+41del
c.2264_2311+41del
c.6779_6826+41del
n.8302_8349+41del
 gnomAD v4
5g.13793548A>CCA359221006DNAH5c.8191T>G (p.Leu2731Val)
c.8146T>G (p.Leu2716Val)
n.8398T>G
c.8299T>G (p.Leu2767Val)
c.7204T>G (p.Leu2402Val)
c.3388T>G (p.Leu1130Val)
c.2941T>G (p.Leu981Val)
c.2278T>G (p.Leu760Val)
c.6793T>G (p.Leu2265Val)
n.8316T>G
5g.13793548A>GCA443265775DNAH5c.8191T>C (p.Leu2731=)
c.8146T>C (p.Leu2716=)
n.8398T>C
c.8299T>C (p.Leu2767=)
c.7204T>C (p.Leu2402=)
c.3388T>C (p.Leu1130=)
c.2941T>C (p.Leu981=)
c.2278T>C (p.Leu760=)
c.6793T>C (p.Leu2265=)
n.8316T>C
5g.13793548A>TCA359221009DNAH5c.8191T>A (p.Leu2731Met)
c.8146T>A (p.Leu2716Met)
n.8398T>A
c.8299T>A (p.Leu2767Met)
c.7204T>A (p.Leu2402Met)
c.3388T>A (p.Leu1130Met)
c.2941T>A (p.Leu981Met)
c.2278T>A (p.Leu760Met)
c.6793T>A (p.Leu2265Met)
n.8316T>A
 gnomAD v4
5g.13793549C>ACA443265780DNAH5c.8190G>T (p.Thr2730=)
c.8145G>T (p.Thr2715=)
n.8397G>T
c.8298G>T (p.Thr2766=)
c.7203G>T (p.Thr2401=)
c.3387G>T (p.Thr1129=)
c.2940G>T (p.Thr980=)
c.2277G>T (p.Thr759=)
c.6792G>T (p.Thr2264=)
n.8315G>T
 gnomAD v4
5g.13793549C=CA1528441632DNAH5c.8190G= (p.Thr2730=)
c.8145G= (p.Thr2715=)
n.8397G=
c.8298G= (p.Thr2766=)
c.7203G= (p.Thr2401=)
c.3387G= (p.Thr1129=)
c.2940G= (p.Thr980=)
c.2277G= (p.Thr759=)
c.6792G= (p.Thr2264=)
n.8315G=
5g.13793549C>GCA443265782DNAH5c.8190G>C (p.Thr2730=)
c.8145G>C (p.Thr2715=)
n.8397G>C
c.8298G>C (p.Thr2766=)
c.7203G>C (p.Thr2401=)
c.3387G>C (p.Thr1129=)
c.2940G>C (p.Thr980=)
c.2277G>C (p.Thr759=)
c.6792G>C (p.Thr2264=)
n.8315G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13793549C>TCA3202880DNAH5c.8190G>A (p.Thr2730=)
c.8145G>A (p.Thr2715=)
n.8397G>A
c.8298G>A (p.Thr2766=)
c.7203G>A (p.Thr2401=)
c.3387G>A (p.Thr1129=)
c.2940G>A (p.Thr980=)
c.2277G>A (p.Thr759=)
c.6792G>A (p.Thr2264=)
n.8315G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793550G>ACA359221020DNAH5c.8189C>T (p.Thr2730Met)
c.8144C>T (p.Thr2715Met)
n.8396C>T
c.8297C>T (p.Thr2766Met)
c.7202C>T (p.Thr2401Met)
c.3386C>T (p.Thr1129Met)
c.2939C>T (p.Thr980Met)
c.2276C>T (p.Thr759Met)
c.6791C>T (p.Thr2264Met)
n.8314C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13793550G>CCA359221021DNAH5c.8189C>G (p.Thr2730Arg)
c.8144C>G (p.Thr2715Arg)
n.8396C>G
c.8297C>G (p.Thr2766Arg)
c.7202C>G (p.Thr2401Arg)
c.3386C>G (p.Thr1129Arg)
c.2939C>G (p.Thr980Arg)
c.2276C>G (p.Thr759Arg)
c.6791C>G (p.Thr2264Arg)
n.8314C>G
5g.13793550G=CA1528441633DNAH5c.8189C= (p.Thr2730=)
c.8144C= (p.Thr2715=)
n.8396C=
c.8297C= (p.Thr2766=)
c.7202C= (p.Thr2401=)
c.3386C= (p.Thr1129=)
c.2939C= (p.Thr980=)
c.2276C= (p.Thr759=)
c.6791C= (p.Thr2264=)
n.8314C=
5g.13793550G>TCA359221017DNAH5c.8189C>A (p.Thr2730Lys)
c.8144C>A (p.Thr2715Lys)
n.8396C>A
c.8297C>A (p.Thr2766Lys)
c.7202C>A (p.Thr2401Lys)
c.3386C>A (p.Thr1129Lys)
c.2939C>A (p.Thr980Lys)
c.2276C>A (p.Thr759Lys)
c.6791C>A (p.Thr2264Lys)
n.8314C>A
5g.13793551T>ACA359221024DNAH5c.8188A>T (p.Thr2730Ser)
c.8143A>T (p.Thr2715Ser)
n.8395A>T
c.8296A>T (p.Thr2766Ser)
c.7201A>T (p.Thr2401Ser)
c.3385A>T (p.Thr1129Ser)
c.2938A>T (p.Thr980Ser)
c.2275A>T (p.Thr759Ser)
c.6790A>T (p.Thr2264Ser)
n.8313A>T
 dbSNP COSMIC
5g.13793551T>CCA359221037DNAH5c.8188A>G (p.Thr2730Ala)
c.8143A>G (p.Thr2715Ala)
n.8395A>G
c.8296A>G (p.Thr2766Ala)
c.7201A>G (p.Thr2401Ala)
c.3385A>G (p.Thr1129Ala)
c.2938A>G (p.Thr980Ala)
c.2275A>G (p.Thr759Ala)
c.6790A>G (p.Thr2264Ala)
n.8313A>G
5g.13793551T>GCA359221039DNAH5c.8188A>C (p.Thr2730Pro)
c.8143A>C (p.Thr2715Pro)
n.8395A>C
c.8296A>C (p.Thr2766Pro)
c.7201A>C (p.Thr2401Pro)
c.3385A>C (p.Thr1129Pro)
c.2938A>C (p.Thr980Pro)
c.2275A>C (p.Thr759Pro)
c.6790A>C (p.Thr2264Pro)
n.8313A>C
5g.13793551T=CA1528441634DNAH5c.8188A= (p.Thr2730=)
c.8143A= (p.Thr2715=)
n.8395A=
c.8296A= (p.Thr2766=)
c.7201A= (p.Thr2401=)
c.3385A= (p.Thr1129=)
c.2938A= (p.Thr980=)
c.2275A= (p.Thr759=)
c.6790A= (p.Thr2264=)
n.8313A=
5g.13793552G>ACA113961717DNAH5c.8187C>T (p.Cys2729=)
c.8142C>T (p.Cys2714=)
n.8394C>T
c.8295C>T (p.Cys2765=)
c.7200C>T (p.Cys2400=)
c.3384C>T (p.Cys1128=)
c.2937C>T (p.Cys979=)
c.2274C>T (p.Cys758=)
c.6789C>T (p.Cys2263=)
n.8312C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13793552G>CCA359221042DNAH5c.8187C>G (p.Cys2729Trp)
c.8142C>G (p.Cys2714Trp)
n.8394C>G
c.8295C>G (p.Cys2765Trp)
c.7200C>G (p.Cys2400Trp)
c.3384C>G (p.Cys1128Trp)
c.2937C>G (p.Cys979Trp)
c.2274C>G (p.Cys758Trp)
c.6789C>G (p.Cys2263Trp)
n.8312C>G
 gnomAD v4
5g.13793552G=CA1528441635DNAH5c.8187C= (p.Cys2729=)
c.8142C= (p.Cys2714=)
n.8394C=
c.8295C= (p.Cys2765=)
c.7200C= (p.Cys2400=)
c.3384C= (p.Cys1128=)
c.2937C= (p.Cys979=)
c.2274C= (p.Cys758=)
c.6789C= (p.Cys2263=)
n.8312C=
5g.13793552G>TCA359221045DNAH5c.8187C>A (p.Cys2729Ter)
c.8142C>A (p.Cys2714Ter)
n.8394C>A
c.8295C>A (p.Cys2765Ter)
c.7200C>A (p.Cys2400Ter)
c.3384C>A (p.Cys1128Ter)
c.2937C>A (p.Cys979Ter)
c.2274C>A (p.Cys758Ter)
c.6789C>A (p.Cys2263Ter)
n.8312C>A
5g.13793553C>ACA359221054DNAH5c.8186G>T (p.Cys2729Phe)
c.8141G>T (p.Cys2714Phe)
n.8393G>T
c.8294G>T (p.Cys2765Phe)
c.7199G>T (p.Cys2400Phe)
c.3383G>T (p.Cys1128Phe)
c.2936G>T (p.Cys979Phe)
c.2273G>T (p.Cys758Phe)
c.6788G>T (p.Cys2263Phe)
n.8311G>T
 dbSNP gnomAD v4
5g.13793553C=CA1528441636DNAH5c.8186G= (p.Cys2729=)
c.8141G= (p.Cys2714=)
n.8393G=
c.8294G= (p.Cys2765=)
c.7199G= (p.Cys2400=)
c.3383G= (p.Cys1128=)
c.2936G= (p.Cys979=)
c.2273G= (p.Cys758=)
c.6788G= (p.Cys2263=)
n.8311G=
5g.13793553C>GCA359221048DNAH5c.8186G>C (p.Cys2729Ser)
c.8141G>C (p.Cys2714Ser)
n.8393G>C
c.8294G>C (p.Cys2765Ser)
c.7199G>C (p.Cys2400Ser)
c.3383G>C (p.Cys1128Ser)
c.2936G>C (p.Cys979Ser)
c.2273G>C (p.Cys758Ser)
c.6788G>C (p.Cys2263Ser)
n.8311G>C
5g.13793553C>TCA359221052DNAH5c.8186G>A (p.Cys2729Tyr)
c.8141G>A (p.Cys2714Tyr)
n.8393G>A
c.8294G>A (p.Cys2765Tyr)
c.7199G>A (p.Cys2400Tyr)
c.3383G>A (p.Cys1128Tyr)
c.2936G>A (p.Cys979Tyr)
c.2273G>A (p.Cys758Tyr)
c.6788G>A (p.Cys2263Tyr)
n.8311G>A
5g.13793554A>CCA359221056DNAH5c.8185T>G (p.Cys2729Gly)
c.8140T>G (p.Cys2714Gly)
n.8392T>G
c.8293T>G (p.Cys2765Gly)
c.7198T>G (p.Cys2400Gly)
c.3382T>G (p.Cys1128Gly)
c.2935T>G (p.Cys979Gly)
c.2272T>G (p.Cys758Gly)
c.6787T>G (p.Cys2263Gly)
n.8310T>G
 gnomAD v4
5g.13793554A>GCA359221059DNAH5c.8185T>C (p.Cys2729Arg)
c.8140T>C (p.Cys2714Arg)
n.8392T>C
c.8293T>C (p.Cys2765Arg)
c.7198T>C (p.Cys2400Arg)
c.3382T>C (p.Cys1128Arg)
c.2935T>C (p.Cys979Arg)
c.2272T>C (p.Cys758Arg)
c.6787T>C (p.Cys2263Arg)
n.8310T>C
 gnomAD v4
5g.13793554A>TCA359221062DNAH5c.8185T>A (p.Cys2729Ser)
c.8140T>A (p.Cys2714Ser)
n.8392T>A
c.8293T>A (p.Cys2765Ser)
c.7198T>A (p.Cys2400Ser)
c.3382T>A (p.Cys1128Ser)
c.2935T>A (p.Cys979Ser)
c.2272T>A (p.Cys758Ser)
c.6787T>A (p.Cys2263Ser)
n.8310T>A
5g.13793555A=CA1528441637DNAH5c.8184T= (p.Asn2728=)
c.8139T= (p.Asn2713=)
n.8391T=
c.8292T= (p.Asn2764=)
c.7197T= (p.Asn2399=)
c.3381T= (p.Asn1127=)
c.2934T= (p.Asn978=)
c.2271T= (p.Asn757=)
c.6786T= (p.Asn2262=)
n.8309T=
5g.13793555A>CCA359221063DNAH5c.8184T>G (p.Asn2728Lys)
c.8139T>G (p.Asn2713Lys)
n.8391T>G
c.8292T>G (p.Asn2764Lys)
c.7197T>G (p.Asn2399Lys)
c.3381T>G (p.Asn1127Lys)
c.2934T>G (p.Asn978Lys)
c.2271T>G (p.Asn757Lys)
c.6786T>G (p.Asn2262Lys)
n.8309T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13793555A>GCA443265811DNAH5c.8184T>C (p.Asn2728=)
c.8139T>C (p.Asn2713=)
n.8391T>C
c.8292T>C (p.Asn2764=)
c.7197T>C (p.Asn2399=)
c.3381T>C (p.Asn1127=)
c.2934T>C (p.Asn978=)
c.2271T>C (p.Asn757=)
c.6786T>C (p.Asn2262=)
n.8309T>C
5g.13793555A>TCA359221064DNAH5c.8184T>A (p.Asn2728Lys)
c.8139T>A (p.Asn2713Lys)
n.8391T>A
c.8292T>A (p.Asn2764Lys)
c.7197T>A (p.Asn2399Lys)
c.3381T>A (p.Asn1127Lys)
c.2934T>A (p.Asn978Lys)
c.2271T>A (p.Asn757Lys)
c.6786T>A (p.Asn2262Lys)
n.8309T>A
5g.13793556T>ACA359221065DNAH5c.8183A>T (p.Asn2728Ile)
c.8138A>T (p.Asn2713Ile)
n.8390A>T
c.8291A>T (p.Asn2764Ile)
c.7196A>T (p.Asn2399Ile)
c.3380A>T (p.Asn1127Ile)
c.2933A>T (p.Asn978Ile)
c.2270A>T (p.Asn757Ile)
c.6785A>T (p.Asn2262Ile)
n.8308A>T
5g.13793556T>CCA359221070DNAH5c.8183A>G (p.Asn2728Ser)
c.8138A>G (p.Asn2713Ser)
n.8390A>G
c.8291A>G (p.Asn2764Ser)
c.7196A>G (p.Asn2399Ser)
c.3380A>G (p.Asn1127Ser)
c.2933A>G (p.Asn978Ser)
c.2270A>G (p.Asn757Ser)
c.6785A>G (p.Asn2262Ser)
n.8308A>G
5g.13793556T>GCA359221068DNAH5c.8183A>C (p.Asn2728Thr)
c.8138A>C (p.Asn2713Thr)
n.8390A>C
c.8291A>C (p.Asn2764Thr)
c.7196A>C (p.Asn2399Thr)
c.3380A>C (p.Asn1127Thr)
c.2933A>C (p.Asn978Thr)
c.2270A>C (p.Asn757Thr)
c.6785A>C (p.Asn2262Thr)
n.8308A>C
5g.13793557T>ACA359221082DNAH5c.8182A>T (p.Asn2728Tyr)
c.8137A>T (p.Asn2713Tyr)
n.8389A>T
c.8290A>T (p.Asn2764Tyr)
c.7195A>T (p.Asn2399Tyr)
c.3379A>T (p.Asn1127Tyr)
c.2932A>T (p.Asn978Tyr)
c.2269A>T (p.Asn757Tyr)
c.6784A>T (p.Asn2262Tyr)
n.8307A>T
5g.13793557T>CCA359221113DNAH5c.8182A>G (p.Asn2728Asp)
c.8137A>G (p.Asn2713Asp)
n.8389A>G
c.8290A>G (p.Asn2764Asp)
c.7195A>G (p.Asn2399Asp)
c.3379A>G (p.Asn1127Asp)
c.2932A>G (p.Asn978Asp)
c.2269A>G (p.Asn757Asp)
c.6784A>G (p.Asn2262Asp)
n.8307A>G
5g.13793557T>GCA359221119DNAH5c.8182A>C (p.Asn2728His)
c.8137A>C (p.Asn2713His)
n.8389A>C
c.8290A>C (p.Asn2764His)
c.7195A>C (p.Asn2399His)
c.3379A>C (p.Asn1127His)
c.2932A>C (p.Asn978His)
c.2269A>C (p.Asn757His)
c.6784A>C (p.Asn2262His)
n.8307A>C
5g.13793558A>CCA359221122DNAH5c.8181T>G (p.Phe2727Leu)
c.8136T>G (p.Phe2712Leu)
n.8388T>G
c.8289T>G (p.Phe2763Leu)
c.7194T>G (p.Phe2398Leu)
c.3378T>G (p.Phe1126Leu)
c.2931T>G (p.Phe977Leu)
c.2268T>G (p.Phe756Leu)
c.6783T>G (p.Phe2261Leu)
n.8306T>G
5g.13793558A>GCA443265831DNAH5c.8181T>C (p.Phe2727=)
c.8136T>C (p.Phe2712=)
n.8388T>C
c.8289T>C (p.Phe2763=)
c.7194T>C (p.Phe2398=)
c.3378T>C (p.Phe1126=)
c.2931T>C (p.Phe977=)
c.2268T>C (p.Phe756=)
c.6783T>C (p.Phe2261=)
n.8306T>C
 ClinVar gnomAD v4
5g.13793558A>TCA359221123DNAH5c.8181T>A (p.Phe2727Leu)
c.8136T>A (p.Phe2712Leu)
n.8388T>A
c.8289T>A (p.Phe2763Leu)
c.7194T>A (p.Phe2398Leu)
c.3378T>A (p.Phe1126Leu)
c.2931T>A (p.Phe977Leu)
c.2268T>A (p.Phe756Leu)
c.6783T>A (p.Phe2261Leu)
n.8306T>A
5g.13793559A=CA1528441638DNAH5c.8180T= (p.Phe2727=)
c.8135T= (p.Phe2712=)
n.8387T=
c.8288T= (p.Phe2763=)
c.7193T= (p.Phe2398=)
c.3377T= (p.Phe1126=)
c.2930T= (p.Phe977=)
c.2267T= (p.Phe756=)
c.6782T= (p.Phe2261=)
n.8305T=
5g.13793559A>CCA359221126DNAH5c.8180T>G (p.Phe2727Cys)
c.8135T>G (p.Phe2712Cys)
n.8387T>G
c.8288T>G (p.Phe2763Cys)
c.7193T>G (p.Phe2398Cys)
c.3377T>G (p.Phe1126Cys)
c.2930T>G (p.Phe977Cys)
c.2267T>G (p.Phe756Cys)
c.6782T>G (p.Phe2261Cys)
n.8305T>G
 dbSNP
5g.13793559A>GCA359221128DNAH5c.8180T>C (p.Phe2727Ser)
c.8135T>C (p.Phe2712Ser)
n.8387T>C
c.8288T>C (p.Phe2763Ser)
c.7193T>C (p.Phe2398Ser)
c.3377T>C (p.Phe1126Ser)
c.2930T>C (p.Phe977Ser)
c.2267T>C (p.Phe756Ser)
c.6782T>C (p.Phe2261Ser)
n.8305T>C
5g.13793559A>TCA359221130DNAH5c.8180T>A (p.Phe2727Tyr)
c.8135T>A (p.Phe2712Tyr)
n.8387T>A
c.8288T>A (p.Phe2763Tyr)
c.7193T>A (p.Phe2398Tyr)
c.3377T>A (p.Phe1126Tyr)
c.2930T>A (p.Phe977Tyr)
c.2267T>A (p.Phe756Tyr)
c.6782T>A (p.Phe2261Tyr)
n.8305T>A
5g.13793560A>CCA359221131DNAH5c.8179T>G (p.Phe2727Val)
c.8134T>G (p.Phe2712Val)
n.8386T>G
c.8287T>G (p.Phe2763Val)
c.7192T>G (p.Phe2398Val)
c.3376T>G (p.Phe1126Val)
c.2929T>G (p.Phe977Val)
c.2266T>G (p.Phe756Val)
c.6781T>G (p.Phe2261Val)
n.8304T>G
5g.13793560A>GCA359221134DNAH5c.8179T>C (p.Phe2727Leu)
c.8134T>C (p.Phe2712Leu)
n.8386T>C
c.8287T>C (p.Phe2763Leu)
c.7192T>C (p.Phe2398Leu)
c.3376T>C (p.Phe1126Leu)
c.2929T>C (p.Phe977Leu)
c.2266T>C (p.Phe756Leu)
c.6781T>C (p.Phe2261Leu)
n.8304T>C
 gnomAD v4
5g.13793560A>TCA359221136DNAH5c.8179T>A (p.Phe2727Ile)
c.8134T>A (p.Phe2712Ile)
n.8386T>A
c.8287T>A (p.Phe2763Ile)
c.7192T>A (p.Phe2398Ile)
c.3376T>A (p.Phe1126Ile)
c.2929T>A (p.Phe977Ile)
c.2266T>A (p.Phe756Ile)
c.6781T>A (p.Phe2261Ile)
n.8304T>A
5g.13793563_13793564delCA645541022DNAH5c.8178_8179del (p.Phe2727Ter)
c.8133_8134del (p.Phe2712Ter)
n.8385_8386del
c.8286_8287del (p.Phe2763Ter)
c.7191_7192del (p.Phe2398Ter)
c.3375_3376del (p.Phe1126Ter)
c.2928_2929del (p.Phe977Ter)
c.2265_2266del (p.Phe756Ter)
c.6780_6781del (p.Phe2261Ter)
n.8303_8304del
 COSMIC
5g.13793561T>ACA443265846DNAH5c.8178A>T (p.Ile2726=)
c.8133A>T (p.Ile2711=)
n.8385A>T
c.8286A>T (p.Ile2762=)
c.7191A>T (p.Ile2397=)
c.3375A>T (p.Ile1125=)
c.2928A>T (p.Ile976=)
c.2265A>T (p.Ile755=)
c.6780A>T (p.Ile2260=)
n.8303A>T
5g.13793561T>CCA359221137DNAH5c.8178A>G (p.Ile2726Met)
c.8133A>G (p.Ile2711Met)
n.8385A>G
c.8286A>G (p.Ile2762Met)
c.7191A>G (p.Ile2397Met)
c.3375A>G (p.Ile1125Met)
c.2928A>G (p.Ile976Met)
c.2265A>G (p.Ile755Met)
c.6780A>G (p.Ile2260Met)
n.8303A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13793561T>GCA443265849DNAH5c.8178A>C (p.Ile2726=)
c.8133A>C (p.Ile2711=)
n.8385A>C
c.8286A>C (p.Ile2762=)
c.7191A>C (p.Ile2397=)
c.3375A>C (p.Ile1125=)
c.2928A>C (p.Ile976=)
c.2265A>C (p.Ile755=)
c.6780A>C (p.Ile2260=)
n.8303A>C
5g.13793561T=CA1528441639DNAH5c.8178A= (p.Ile2726=)
c.8133A= (p.Ile2711=)
n.8385A=
c.8286A= (p.Ile2762=)
c.7191A= (p.Ile2397=)
c.3375A= (p.Ile1125=)
c.2928A= (p.Ile976=)
c.2265A= (p.Ile755=)
c.6780A= (p.Ile2260=)
n.8303A=
5g.13793562A=CA1528441640DNAH5c.8177T= (p.Ile2726=)
c.8132T= (p.Ile2711=)
n.8384T=
c.8285T= (p.Ile2762=)
c.7190T= (p.Ile2397=)
c.3374T= (p.Ile1125=)
c.2927T= (p.Ile976=)
c.2264T= (p.Ile755=)
c.6779T= (p.Ile2260=)
n.8302T=
5g.13793562A>CCA359221142DNAH5c.8177T>G (p.Ile2726Arg)
c.8132T>G (p.Ile2711Arg)
n.8384T>G
c.8285T>G (p.Ile2762Arg)
c.7190T>G (p.Ile2397Arg)
c.3374T>G (p.Ile1125Arg)
c.2927T>G (p.Ile976Arg)
c.2264T>G (p.Ile755Arg)
c.6779T>G (p.Ile2260Arg)
n.8302T>G
5g.13793562A>GCA359221146DNAH5c.8177T>C (p.Ile2726Thr)
c.8132T>C (p.Ile2711Thr)
n.8384T>C
c.8285T>C (p.Ile2762Thr)
c.7190T>C (p.Ile2397Thr)
c.3374T>C (p.Ile1125Thr)
c.2927T>C (p.Ile976Thr)
c.2264T>C (p.Ile755Thr)
c.6779T>C (p.Ile2260Thr)
n.8302T>C
 dbSNP gnomAD v4
5g.13793562A>TCA359221143DNAH5c.8177T>A (p.Ile2726Lys)
c.8132T>A (p.Ile2711Lys)
n.8384T>A
c.8285T>A (p.Ile2762Lys)
c.7190T>A (p.Ile2397Lys)
c.3374T>A (p.Ile1125Lys)
c.2927T>A (p.Ile976Lys)
c.2264T>A (p.Ile755Lys)
c.6779T>A (p.Ile2260Lys)
n.8302T>A
5g.13793563T>ACA359221148DNAH5c.8176A>T (p.Ile2726Leu)
c.8131A>T (p.Ile2711Leu)
n.8383A>T
c.8284A>T (p.Ile2762Leu)
c.7189A>T (p.Ile2397Leu)
c.3373A>T (p.Ile1125Leu)
c.2926A>T (p.Ile976Leu)
c.2263A>T (p.Ile755Leu)
c.6778A>T (p.Ile2260Leu)
n.8301A>T
 ClinVar dbSNP gnomAD v4
5g.13793563T>CCA3202881DNAH5c.8176A>G (p.Ile2726Val)
c.8131A>G (p.Ile2711Val)
n.8383A>G
c.8284A>G (p.Ile2762Val)
c.7189A>G (p.Ile2397Val)
c.3373A>G (p.Ile1125Val)
c.2926A>G (p.Ile976Val)
c.2263A>G (p.Ile755Val)
c.6778A>G (p.Ile2260Val)
n.8301A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793563T>GCA359221150DNAH5c.8176A>C (p.Ile2726Leu)
c.8131A>C (p.Ile2711Leu)
n.8383A>C
c.8284A>C (p.Ile2762Leu)
c.7189A>C (p.Ile2397Leu)
c.3373A>C (p.Ile1125Leu)
c.2926A>C (p.Ile976Leu)
c.2263A>C (p.Ile755Leu)
c.6778A>C (p.Ile2260Leu)
n.8301A>C
5g.13793563T=CA1528441641DNAH5c.8176A= (p.Ile2726=)
c.8131A= (p.Ile2711=)
n.8383A=
c.8284A= (p.Ile2762=)
c.7189A= (p.Ile2397=)
c.3373A= (p.Ile1125=)
c.2926A= (p.Ile976=)
c.2263A= (p.Ile755=)
c.6778A= (p.Ile2260=)
n.8301A=
5g.13793564A=CA1528441642DNAH5c.8175T= (p.Ser2725=)
c.8130T= (p.Ser2710=)
n.8382T=
c.8283T= (p.Ser2761=)
c.7188T= (p.Ser2396=)
c.3372T= (p.Ser1124=)
c.2925T= (p.Ser975=)
c.2262T= (p.Ser754=)
c.6777T= (p.Ser2259=)
n.8300T=
5g.13793564A>CCA443265861DNAH5c.8175T>G (p.Ser2725=)
c.8130T>G (p.Ser2710=)
n.8382T>G
c.8283T>G (p.Ser2761=)
c.7188T>G (p.Ser2396=)
c.3372T>G (p.Ser1124=)
c.2925T>G (p.Ser975=)
c.2262T>G (p.Ser754=)
c.6777T>G (p.Ser2259=)
n.8300T>G
5g.13793564A>GCA443265863DNAH5c.8175T>C (p.Ser2725=)
c.8130T>C (p.Ser2710=)
n.8382T>C
c.8283T>C (p.Ser2761=)
c.7188T>C (p.Ser2396=)
c.3372T>C (p.Ser1124=)
c.2925T>C (p.Ser975=)
c.2262T>C (p.Ser754=)
c.6777T>C (p.Ser2259=)
n.8300T>C
 dbSNP
5g.13793564A>TCA443265865DNAH5c.8175T>A (p.Ser2725=)
c.8130T>A (p.Ser2710=)
n.8382T>A
c.8283T>A (p.Ser2761=)
c.7188T>A (p.Ser2396=)
c.3372T>A (p.Ser1124=)
c.2925T>A (p.Ser975=)
c.2262T>A (p.Ser754=)
c.6777T>A (p.Ser2259=)
n.8300T>A
5g.13793565G>ACA359221152DNAH5c.8174C>T (p.Ser2725Phe)
c.8129C>T (p.Ser2710Phe)
n.8381C>T
c.8282C>T (p.Ser2761Phe)
c.7187C>T (p.Ser2396Phe)
c.3371C>T (p.Ser1124Phe)
c.2924C>T (p.Ser975Phe)
c.2261C>T (p.Ser754Phe)
c.6776C>T (p.Ser2259Phe)
n.8299C>T
5g.13793565G>CCA3202882DNAH5c.8174C>G (p.Ser2725Cys)
c.8129C>G (p.Ser2710Cys)
n.8381C>G
c.8282C>G (p.Ser2761Cys)
c.7187C>G (p.Ser2396Cys)
c.3371C>G (p.Ser1124Cys)
c.2924C>G (p.Ser975Cys)
c.2261C>G (p.Ser754Cys)
c.6776C>G (p.Ser2259Cys)
n.8299C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793565G=CA1528441643DNAH5c.8174C= (p.Ser2725=)
c.8129C= (p.Ser2710=)
n.8381C=
c.8282C= (p.Ser2761=)
c.7187C= (p.Ser2396=)
c.3371C= (p.Ser1124=)
c.2924C= (p.Ser975=)
c.2261C= (p.Ser754=)
c.6776C= (p.Ser2259=)
n.8299C=
5g.13793565G>TCA359221154DNAH5c.8174C>A (p.Ser2725Tyr)
c.8129C>A (p.Ser2710Tyr)
n.8381C>A
c.8282C>A (p.Ser2761Tyr)
c.7187C>A (p.Ser2396Tyr)
c.3371C>A (p.Ser1124Tyr)
c.2924C>A (p.Ser975Tyr)
c.2261C>A (p.Ser754Tyr)
c.6776C>A (p.Ser2259Tyr)
n.8299C>A
5g.13793566A>CCA359221158DNAH5c.8173T>G (p.Ser2725Ala)
c.8128T>G (p.Ser2710Ala)
n.8380T>G
c.8281T>G (p.Ser2761Ala)
c.7186T>G (p.Ser2396Ala)
c.3370T>G (p.Ser1124Ala)
c.2923T>G (p.Ser975Ala)
c.2260T>G (p.Ser754Ala)
c.6775T>G (p.Ser2259Ala)
n.8298T>G
5g.13793566A>GCA359221156DNAH5c.8173T>C (p.Ser2725Pro)
c.8128T>C (p.Ser2710Pro)
n.8380T>C
c.8281T>C (p.Ser2761Pro)
c.7186T>C (p.Ser2396Pro)
c.3370T>C (p.Ser1124Pro)
c.2923T>C (p.Ser975Pro)
c.2260T>C (p.Ser754Pro)
c.6775T>C (p.Ser2259Pro)
n.8298T>C
5g.13793566A>TCA359221157DNAH5c.8173T>A (p.Ser2725Thr)
c.8128T>A (p.Ser2710Thr)
n.8380T>A
c.8281T>A (p.Ser2761Thr)
c.7186T>A (p.Ser2396Thr)
c.3370T>A (p.Ser1124Thr)
c.2923T>A (p.Ser975Thr)
c.2260T>A (p.Ser754Thr)
c.6775T>A (p.Ser2259Thr)
n.8298T>A
5g.13793567G>ACA443265881DNAH5c.8172C>T (p.Phe2724=)
c.8127C>T (p.Phe2709=)
n.8379C>T
c.8280C>T (p.Phe2760=)
c.7185C>T (p.Phe2395=)
c.3369C>T (p.Phe1123=)
c.2922C>T (p.Phe974=)
c.2259C>T (p.Phe753=)
c.6774C>T (p.Phe2258=)
n.8297C>T
 gnomAD v4 COSMIC
5g.13793567G>CCA359221159DNAH5c.8172C>G (p.Phe2724Leu)
c.8127C>G (p.Phe2709Leu)
n.8379C>G
c.8280C>G (p.Phe2760Leu)
c.7185C>G (p.Phe2395Leu)
c.3369C>G (p.Phe1123Leu)
c.2922C>G (p.Phe974Leu)
c.2259C>G (p.Phe753Leu)
c.6774C>G (p.Phe2258Leu)
n.8297C>G
 gnomAD v4 COSMIC
5g.13793567G>TCA359221160DNAH5c.8172C>A (p.Phe2724Leu)
c.8127C>A (p.Phe2709Leu)
n.8379C>A
c.8280C>A (p.Phe2760Leu)
c.7185C>A (p.Phe2395Leu)
c.3369C>A (p.Phe1123Leu)
c.2922C>A (p.Phe974Leu)
c.2259C>A (p.Phe753Leu)
c.6774C>A (p.Phe2258Leu)
n.8297C>A
5g.13793568A=CA1528441644DNAH5c.8171T= (p.Phe2724=)
c.8126T= (p.Phe2709=)
n.8378T=
c.8279T= (p.Phe2760=)
c.7184T= (p.Phe2395=)
c.3368T= (p.Phe1123=)
c.2921T= (p.Phe974=)
c.2258T= (p.Phe753=)
c.6773T= (p.Phe2258=)
n.8296T=
5g.13793568A>CCA359221162DNAH5c.8171T>G (p.Phe2724Cys)
c.8126T>G (p.Phe2709Cys)
n.8378T>G
c.8279T>G (p.Phe2760Cys)
c.7184T>G (p.Phe2395Cys)
c.3368T>G (p.Phe1123Cys)
c.2921T>G (p.Phe974Cys)
c.2258T>G (p.Phe753Cys)
c.6773T>G (p.Phe2258Cys)
n.8296T>G
5g.13793568A>GCA359221168DNAH5c.8171T>C (p.Phe2724Ser)
c.8126T>C (p.Phe2709Ser)
n.8378T>C
c.8279T>C (p.Phe2760Ser)
c.7184T>C (p.Phe2395Ser)
c.3368T>C (p.Phe1123Ser)
c.2921T>C (p.Phe974Ser)
c.2258T>C (p.Phe753Ser)
c.6773T>C (p.Phe2258Ser)
n.8296T>C
 gnomAD v4
5g.13793568A>TCA359221170DNAH5c.8171T>A (p.Phe2724Tyr)
c.8126T>A (p.Phe2709Tyr)
n.8378T>A
c.8279T>A (p.Phe2760Tyr)
c.7184T>A (p.Phe2395Tyr)
c.3368T>A (p.Phe1123Tyr)
c.2921T>A (p.Phe974Tyr)
c.2258T>A (p.Phe753Tyr)
c.6773T>A (p.Phe2258Tyr)
n.8296T>A
 dbSNP gnomAD v2 gnomAD v4
5g.13793569A=CA1528441645DNAH5c.8170T= (p.Phe2724=)
c.8125T= (p.Phe2709=)
n.8377T=
c.8278T= (p.Phe2760=)
c.7183T= (p.Phe2395=)
c.3367T= (p.Phe1123=)
c.2920T= (p.Phe974=)
c.2257T= (p.Phe753=)
c.6772T= (p.Phe2258=)
n.8295T=
5g.13793569A>CCA359221173DNAH5c.8170T>G (p.Phe2724Val)
c.8125T>G (p.Phe2709Val)
n.8377T>G
c.8278T>G (p.Phe2760Val)
c.7183T>G (p.Phe2395Val)
c.3367T>G (p.Phe1123Val)
c.2920T>G (p.Phe974Val)
c.2257T>G (p.Phe753Val)
c.6772T>G (p.Phe2258Val)
n.8295T>G
5g.13793569A>GCA3202884DNAH5c.8170T>C (p.Phe2724Leu)
c.8125T>C (p.Phe2709Leu)
n.8377T>C
c.8278T>C (p.Phe2760Leu)
c.7183T>C (p.Phe2395Leu)
c.3367T>C (p.Phe1123Leu)
c.2920T>C (p.Phe974Leu)
c.2257T>C (p.Phe753Leu)
c.6772T>C (p.Phe2258Leu)
n.8295T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793569A>TCA3202883DNAH5c.8170T>A (p.Phe2724Ile)
c.8125T>A (p.Phe2709Ile)
n.8377T>A
c.8278T>A (p.Phe2760Ile)
c.7183T>A (p.Phe2395Ile)
c.3367T>A (p.Phe1123Ile)
c.2920T>A (p.Phe974Ile)
c.2257T>A (p.Phe753Ile)
c.6772T>A (p.Phe2258Ile)
n.8295T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793570C>ACA359221174DNAH5c.8169G>T (p.Gln2723His)
c.8124G>T (p.Gln2708His)
n.8376G>T
c.8277G>T (p.Gln2759His)
c.7182G>T (p.Gln2394His)
c.3366G>T (p.Gln1122His)
c.2919G>T (p.Gln973His)
c.2256G>T (p.Gln752His)
c.6771G>T (p.Gln2257His)
n.8294G>T
5g.13793570C=CA1528441646DNAH5c.8169G= (p.Gln2723=)
c.8124G= (p.Gln2708=)
n.8376G=
c.8277G= (p.Gln2759=)
c.7182G= (p.Gln2394=)
c.3366G= (p.Gln1122=)
c.2919G= (p.Gln973=)
c.2256G= (p.Gln752=)
c.6771G= (p.Gln2257=)
n.8294G=
5g.13793570C>GCA359221175DNAH5c.8169G>C (p.Gln2723His)
c.8124G>C (p.Gln2708His)
n.8376G>C
c.8277G>C (p.Gln2759His)
c.7182G>C (p.Gln2394His)
c.3366G>C (p.Gln1122His)
c.2919G>C (p.Gln973His)
c.2256G>C (p.Gln752His)
c.6771G>C (p.Gln2257His)
n.8294G>C
5g.13793570C>TCA3202885DNAH5c.8169G>A (p.Gln2723=)
c.8124G>A (p.Gln2708=)
n.8376G>A
c.8277G>A (p.Gln2759=)
c.7182G>A (p.Gln2394=)
c.3366G>A (p.Gln1122=)
c.2919G>A (p.Gln973=)
c.2256G>A (p.Gln752=)
c.6771G>A (p.Gln2257=)
n.8294G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793571T>ACA359221177DNAH5c.8168A>T (p.Gln2723Leu)
c.8123A>T (p.Gln2708Leu)
n.8375A>T
c.8276A>T (p.Gln2759Leu)
c.7181A>T (p.Gln2394Leu)
c.3365A>T (p.Gln1122Leu)
c.2918A>T (p.Gln973Leu)
c.2255A>T (p.Gln752Leu)
c.6770A>T (p.Gln2257Leu)
n.8293A>T
 ClinVar dbSNP
5g.13793571T>CCA113961758DNAH5c.8168A>G (p.Gln2723Arg)
c.8123A>G (p.Gln2708Arg)
n.8375A>G
c.8276A>G (p.Gln2759Arg)
c.7181A>G (p.Gln2394Arg)
c.3365A>G (p.Gln1122Arg)
c.2918A>G (p.Gln973Arg)
c.2255A>G (p.Gln752Arg)
c.6770A>G (p.Gln2257Arg)
n.8293A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13793571T>GCA359221179DNAH5c.8168A>C (p.Gln2723Pro)
c.8123A>C (p.Gln2708Pro)
n.8375A>C
c.8276A>C (p.Gln2759Pro)
c.7181A>C (p.Gln2394Pro)
c.3365A>C (p.Gln1122Pro)
c.2918A>C (p.Gln973Pro)
c.2255A>C (p.Gln752Pro)
c.6770A>C (p.Gln2257Pro)
n.8293A>C
5g.13793571T=CA1528441647DNAH5c.8168A= (p.Gln2723=)
c.8123A= (p.Gln2708=)
n.8375A=
c.8276A= (p.Gln2759=)
c.7181A= (p.Gln2394=)
c.3365A= (p.Gln1122=)
c.2918A= (p.Gln973=)
c.2255A= (p.Gln752=)
c.6770A= (p.Gln2257=)
n.8293A=
5g.13793572G>ACA359221180DNAH5c.8167C>T (p.Gln2723Ter)
c.8122C>T (p.Gln2708Ter)
n.8374C>T
c.8275C>T (p.Gln2759Ter)
c.7180C>T (p.Gln2394Ter)
c.3364C>T (p.Gln1122Ter)
c.2917C>T (p.Gln973Ter)
c.2254C>T (p.Gln752Ter)
c.6769C>T (p.Gln2257Ter)
n.8292C>T
 ClinVar dbSNP gnomAD v4
5g.13793572G>CCA359221181DNAH5c.8167C>G (p.Gln2723Glu)
c.8122C>G (p.Gln2708Glu)
n.8374C>G
c.8275C>G (p.Gln2759Glu)
c.7180C>G (p.Gln2394Glu)
c.3364C>G (p.Gln1122Glu)
c.2917C>G (p.Gln973Glu)
c.2254C>G (p.Gln752Glu)
c.6769C>G (p.Gln2257Glu)
n.8292C>G
 dbSNP gnomAD v2
5g.13793572G=CA1528441648DNAH5c.8167C= (p.Gln2723=)
c.8122C= (p.Gln2708=)
n.8374C=
c.8275C= (p.Gln2759=)
c.7180C= (p.Gln2394=)
c.3364C= (p.Gln1122=)
c.2917C= (p.Gln973=)
c.2254C= (p.Gln752=)
c.6769C= (p.Gln2257=)
n.8292C=
5g.13793572G>TCA359221183DNAH5c.8167C>A (p.Gln2723Lys)
c.8122C>A (p.Gln2708Lys)
n.8374C>A
c.8275C>A (p.Gln2759Lys)
c.7180C>A (p.Gln2394Lys)
c.3364C>A (p.Gln1122Lys)
c.2917C>A (p.Gln973Lys)
c.2254C>A (p.Gln752Lys)
c.6769C>A (p.Gln2257Lys)
n.8292C>A
5g.13793573C>ACA359221185DNAH5c.8166G>T (p.Arg2722Ser)
c.8121G>T (p.Arg2707Ser)
n.8373G>T
c.8274G>T (p.Arg2758Ser)
c.7179G>T (p.Arg2393Ser)
c.3363G>T (p.Arg1121Ser)
c.2916G>T (p.Arg972Ser)
c.2253G>T (p.Arg751Ser)
c.6768G>T (p.Arg2256Ser)
n.8291G>T
5g.13793573C>GCA359221187DNAH5c.8166G>C (p.Arg2722Ser)
c.8121G>C (p.Arg2707Ser)
n.8373G>C
c.8274G>C (p.Arg2758Ser)
c.7179G>C (p.Arg2393Ser)
c.3363G>C (p.Arg1121Ser)
c.2916G>C (p.Arg972Ser)
c.2253G>C (p.Arg751Ser)
c.6768G>C (p.Arg2256Ser)
n.8291G>C
5g.13793573C>TCA443265910DNAH5c.8166G>A (p.Arg2722=)
c.8121G>A (p.Arg2707=)
n.8373G>A
c.8274G>A (p.Arg2758=)
c.7179G>A (p.Arg2393=)
c.3363G>A (p.Arg1121=)
c.2916G>A (p.Arg972=)
c.2253G>A (p.Arg751=)
c.6768G>A (p.Arg2256=)
n.8291G>A
 ClinVar dbSNP
5g.13793574C>ACA359221190DNAH5c.8165G>T (p.Arg2722Met)
c.8120G>T (p.Arg2707Met)
n.8372G>T
c.8273G>T (p.Arg2758Met)
c.7178G>T (p.Arg2393Met)
c.3362G>T (p.Arg1121Met)
c.2915G>T (p.Arg972Met)
c.2252G>T (p.Arg751Met)
c.6767G>T (p.Arg2256Met)
n.8290G>T
 COSMIC
5g.13793574C>GCA359221191DNAH5c.8165G>C (p.Arg2722Thr)
c.8120G>C (p.Arg2707Thr)
n.8372G>C
c.8273G>C (p.Arg2758Thr)
c.7178G>C (p.Arg2393Thr)
c.3362G>C (p.Arg1121Thr)
c.2915G>C (p.Arg972Thr)
c.2252G>C (p.Arg751Thr)
c.6767G>C (p.Arg2256Thr)
n.8290G>C
5g.13793574C>TCA359221188DNAH5c.8165G>A (p.Arg2722Lys)
c.8120G>A (p.Arg2707Lys)
n.8372G>A
c.8273G>A (p.Arg2758Lys)
c.7178G>A (p.Arg2393Lys)
c.3362G>A (p.Arg1121Lys)
c.2915G>A (p.Arg972Lys)
c.2252G>A (p.Arg751Lys)
c.6767G>A (p.Arg2256Lys)
n.8290G>A
 COSMIC
5g.13793575delCA2765334568DNAH5c.8164del (p.Arg2722GlyfsTer22)
c.8119del (p.Arg2707GlyfsTer22)
n.8371del
c.8272del (p.Arg2758GlyfsTer22)
c.7177del (p.Arg2393GlyfsTer22)
c.3361del (p.Arg1121GlyfsTer22)
c.2914del (p.Arg972GlyfsTer22)
c.2251del (p.Arg751GlyfsTer22)
c.6766del (p.Arg2256GlyfsTer22)
n.8289del
5g.13793575T>ACA359221197DNAH5c.8164A>T (p.Arg2722Trp)
c.8119A>T (p.Arg2707Trp)
n.8371A>T
c.8272A>T (p.Arg2758Trp)
c.7177A>T (p.Arg2393Trp)
c.3361A>T (p.Arg1121Trp)
c.2914A>T (p.Arg972Trp)
c.2251A>T (p.Arg751Trp)
c.6766A>T (p.Arg2256Trp)
n.8289A>T
5g.13793575T>CCA359221195DNAH5c.8164A>G (p.Arg2722Gly)
c.8119A>G (p.Arg2707Gly)
n.8371A>G
c.8272A>G (p.Arg2758Gly)
c.7177A>G (p.Arg2393Gly)
c.3361A>G (p.Arg1121Gly)
c.2914A>G (p.Arg972Gly)
c.2251A>G (p.Arg751Gly)
c.6766A>G (p.Arg2256Gly)
n.8289A>G
5g.13793575T>GCA443265920DNAH5c.8164A>C (p.Arg2722=)
c.8119A>C (p.Arg2707=)
n.8371A>C
c.8272A>C (p.Arg2758=)
c.7177A>C (p.Arg2393=)
c.3361A>C (p.Arg1121=)
c.2914A>C (p.Arg972=)
c.2251A>C (p.Arg751=)
c.6766A>C (p.Arg2256=)
n.8289A>C
5g.13793576C>ACA359221199DNAH5c.8163G>T (p.Lys2721Asn)
c.8118G>T (p.Lys2706Asn)
n.8370G>T
c.8271G>T (p.Lys2757Asn)
c.7176G>T (p.Lys2392Asn)
c.3360G>T (p.Lys1120Asn)
c.2913G>T (p.Lys971Asn)
c.2250G>T (p.Lys750Asn)
c.6765G>T (p.Lys2255Asn)
n.8288G>T
5g.13793576C>GCA359221202DNAH5c.8163G>C (p.Lys2721Asn)
c.8118G>C (p.Lys2706Asn)
n.8370G>C
c.8271G>C (p.Lys2757Asn)
c.7176G>C (p.Lys2392Asn)
c.3360G>C (p.Lys1120Asn)
c.2913G>C (p.Lys971Asn)
c.2250G>C (p.Lys750Asn)
c.6765G>C (p.Lys2255Asn)
n.8288G>C
5g.13793576C>TCA443265925DNAH5c.8163G>A (p.Lys2721=)
c.8118G>A (p.Lys2706=)
n.8370G>A
c.8271G>A (p.Lys2757=)
c.7176G>A (p.Lys2392=)
c.3360G>A (p.Lys1120=)
c.2913G>A (p.Lys971=)
c.2250G>A (p.Lys750=)
c.6765G>A (p.Lys2255=)
n.8288G>A
 COSMIC
5g.13793577T>ACA359221203DNAH5c.8162A>T (p.Lys2721Met)
c.8117A>T (p.Lys2706Met)
n.8369A>T
c.8270A>T (p.Lys2757Met)
c.7175A>T (p.Lys2392Met)
c.3359A>T (p.Lys1120Met)
c.2912A>T (p.Lys971Met)
c.2249A>T (p.Lys750Met)
c.6764A>T (p.Lys2255Met)
n.8287A>T
5g.13793577T>CCA359221204DNAH5c.8162A>G (p.Lys2721Arg)
c.8117A>G (p.Lys2706Arg)
n.8369A>G
c.8270A>G (p.Lys2757Arg)
c.7175A>G (p.Lys2392Arg)
c.3359A>G (p.Lys1120Arg)
c.2912A>G (p.Lys971Arg)
c.2249A>G (p.Lys750Arg)
c.6764A>G (p.Lys2255Arg)
n.8287A>G
5g.13793577T>GCA359221205DNAH5c.8162A>C (p.Lys2721Thr)
c.8117A>C (p.Lys2706Thr)
n.8369A>C
c.8270A>C (p.Lys2757Thr)
c.7175A>C (p.Lys2392Thr)
c.3359A>C (p.Lys1120Thr)
c.2912A>C (p.Lys971Thr)
c.2249A>C (p.Lys750Thr)
c.6764A>C (p.Lys2255Thr)
n.8287A>C
5g.13793577_13793578delCA2739274580DNAH5c.8161_8162del (p.Lys2721GlufsTer7)
c.8116_8117del (p.Lys2706GlufsTer7)
n.8368_8369del
c.8269_8270del (p.Lys2757GlufsTer7)
c.7174_7175del (p.Lys2392GlufsTer7)
c.3358_3359del (p.Lys1120GlufsTer7)
c.2911_2912del (p.Lys971GlufsTer7)
c.2248_2249del (p.Lys750GlufsTer7)
c.6763_6764del (p.Lys2255GlufsTer7)
n.8286_8287del
 ClinVar
5g.13793578T>ACA359221207DNAH5c.8161A>T (p.Lys2721Ter)
c.8116A>T (p.Lys2706Ter)
n.8368A>T
c.8269A>T (p.Lys2757Ter)
c.7174A>T (p.Lys2392Ter)
c.3358A>T (p.Lys1120Ter)
c.2911A>T (p.Lys971Ter)
c.2248A>T (p.Lys750Ter)
c.6763A>T (p.Lys2255Ter)
n.8286A>T
 ClinVar
5g.13793578T>CCA359221208DNAH5c.8161A>G (p.Lys2721Glu)
c.8116A>G (p.Lys2706Glu)
n.8368A>G
c.8269A>G (p.Lys2757Glu)
c.7174A>G (p.Lys2392Glu)
c.3358A>G (p.Lys1120Glu)
c.2911A>G (p.Lys971Glu)
c.2248A>G (p.Lys750Glu)
c.6763A>G (p.Lys2255Glu)
n.8286A>G
5g.13793578T>GCA359221210DNAH5c.8161A>C (p.Lys2721Gln)
c.8116A>C (p.Lys2706Gln)
n.8368A>C
c.8269A>C (p.Lys2757Gln)
c.7174A>C (p.Lys2392Gln)
c.3358A>C (p.Lys1120Gln)
c.2911A>C (p.Lys971Gln)
c.2248A>C (p.Lys750Gln)
c.6763A>C (p.Lys2255Gln)
n.8286A>C
 gnomAD v4
5g.13793579G>ACA443265940DNAH5c.8160C>T (p.Leu2720=)
c.8115C>T (p.Leu2705=)
n.8367C>T
c.8268C>T (p.Leu2756=)
c.7173C>T (p.Leu2391=)
c.3357C>T (p.Leu1119=)
c.2910C>T (p.Leu970=)
c.2247C>T (p.Leu749=)
c.6762C>T (p.Leu2254=)
n.8285C>T
5g.13793579G>CCA443265942DNAH5c.8160C>G (p.Leu2720=)
c.8115C>G (p.Leu2705=)
n.8367C>G
c.8268C>G (p.Leu2756=)
c.7173C>G (p.Leu2391=)
c.3357C>G (p.Leu1119=)
c.2910C>G (p.Leu970=)
c.2247C>G (p.Leu749=)
c.6762C>G (p.Leu2254=)
n.8285C>G
 dbSNP gnomAD v4
5g.13793579G=CA1528441649DNAH5c.8160C= (p.Leu2720=)
c.8115C= (p.Leu2705=)
n.8367C=
c.8268C= (p.Leu2756=)
c.7173C= (p.Leu2391=)
c.3357C= (p.Leu1119=)
c.2910C= (p.Leu970=)
c.2247C= (p.Leu749=)
c.6762C= (p.Leu2254=)
n.8285C=
5g.13793579G>TCA443265943DNAH5c.8160C>A (p.Leu2720=)
c.8115C>A (p.Leu2705=)
n.8367C>A
c.8268C>A (p.Leu2756=)
c.7173C>A (p.Leu2391=)
c.3357C>A (p.Leu1119=)
c.2910C>A (p.Leu970=)
c.2247C>A (p.Leu749=)
c.6762C>A (p.Leu2254=)
n.8285C>A
5g.13793580A>CCA359221211DNAH5c.8159T>G (p.Leu2720Arg)
c.8114T>G (p.Leu2705Arg)
n.8366T>G
c.8267T>G (p.Leu2756Arg)
c.7172T>G (p.Leu2391Arg)
c.3356T>G (p.Leu1119Arg)
c.2909T>G (p.Leu970Arg)
c.2246T>G (p.Leu749Arg)
c.6761T>G (p.Leu2254Arg)
n.8284T>G
5g.13793580A>GCA359221213DNAH5c.8159T>C (p.Leu2720Pro)
c.8114T>C (p.Leu2705Pro)
n.8366T>C
c.8267T>C (p.Leu2756Pro)
c.7172T>C (p.Leu2391Pro)
c.3356T>C (p.Leu1119Pro)
c.2909T>C (p.Leu970Pro)
c.2246T>C (p.Leu749Pro)
c.6761T>C (p.Leu2254Pro)
n.8284T>C
5g.13793580A>TCA359221215DNAH5c.8159T>A (p.Leu2720His)
c.8114T>A (p.Leu2705His)
n.8366T>A
c.8267T>A (p.Leu2756His)
c.7172T>A (p.Leu2391His)
c.3356T>A (p.Leu1119His)
c.2909T>A (p.Leu970His)
c.2246T>A (p.Leu749His)
c.6761T>A (p.Leu2254His)
n.8284T>A
5g.13793581G>ACA359221220DNAH5c.8158C>T (p.Leu2720Phe)
c.8113C>T (p.Leu2705Phe)
n.8365C>T
c.8266C>T (p.Leu2756Phe)
c.7171C>T (p.Leu2391Phe)
c.3355C>T (p.Leu1119Phe)
c.2908C>T (p.Leu970Phe)
c.2245C>T (p.Leu749Phe)
c.6760C>T (p.Leu2254Phe)
n.8283C>T
5g.13793581G>CCA359221217DNAH5c.8158C>G (p.Leu2720Val)
c.8113C>G (p.Leu2705Val)
n.8365C>G
c.8266C>G (p.Leu2756Val)
c.7171C>G (p.Leu2391Val)
c.3355C>G (p.Leu1119Val)
c.2908C>G (p.Leu970Val)
c.2245C>G (p.Leu749Val)
c.6760C>G (p.Leu2254Val)
n.8283C>G
5g.13793581G>TCA359221219DNAH5c.8158C>A (p.Leu2720Ile)
c.8113C>A (p.Leu2705Ile)
n.8365C>A
c.8266C>A (p.Leu2756Ile)
c.7171C>A (p.Leu2391Ile)
c.3355C>A (p.Leu1119Ile)
c.2908C>A (p.Leu970Ile)
c.2245C>A (p.Leu749Ile)
c.6760C>A (p.Leu2254Ile)
n.8283C>A
5g.13793582T>ACA359221221DNAH5c.8157A>T (p.Arg2719Ser)
c.8112A>T (p.Arg2704Ser)
n.8364A>T
c.8265A>T (p.Arg2755Ser)
c.7170A>T (p.Arg2390Ser)
c.3354A>T (p.Arg1118Ser)
c.2907A>T (p.Arg969Ser)
c.2244A>T (p.Arg748Ser)
c.6759A>T (p.Arg2253Ser)
n.8282A>T
5g.13793582T>CCA443265959DNAH5c.8157A>G (p.Arg2719=)
c.8112A>G (p.Arg2704=)
n.8364A>G
c.8265A>G (p.Arg2755=)
c.7170A>G (p.Arg2390=)
c.3354A>G (p.Arg1118=)
c.2907A>G (p.Arg969=)
c.2244A>G (p.Arg748=)
c.6759A>G (p.Arg2253=)
n.8282A>G
5g.13793582T>GCA359221223DNAH5c.8157A>C (p.Arg2719Ser)
c.8112A>C (p.Arg2704Ser)
n.8364A>C
c.8265A>C (p.Arg2755Ser)
c.7170A>C (p.Arg2390Ser)
c.3354A>C (p.Arg1118Ser)
c.2907A>C (p.Arg969Ser)
c.2244A>C (p.Arg748Ser)
c.6759A>C (p.Arg2253Ser)
n.8282A>C
5g.13793583C>ACA359221224DNAH5c.8156G>T (p.Arg2719Ile)
c.8111G>T (p.Arg2704Ile)
n.8363G>T
c.8264G>T (p.Arg2755Ile)
c.7169G>T (p.Arg2390Ile)
c.3353G>T (p.Arg1118Ile)
c.2906G>T (p.Arg969Ile)
c.2243G>T (p.Arg748Ile)
c.6758G>T (p.Arg2253Ile)
n.8281G>T
5g.13793583C>GCA359221225DNAH5c.8156G>C (p.Arg2719Thr)
c.8111G>C (p.Arg2704Thr)
n.8363G>C
c.8264G>C (p.Arg2755Thr)
c.7169G>C (p.Arg2390Thr)
c.3353G>C (p.Arg1118Thr)
c.2906G>C (p.Arg969Thr)
c.2243G>C (p.Arg748Thr)
c.6758G>C (p.Arg2253Thr)
n.8281G>C
5g.13793583C>TCA359221227DNAH5c.8156G>A (p.Arg2719Lys)
c.8111G>A (p.Arg2704Lys)
n.8363G>A
c.8264G>A (p.Arg2755Lys)
c.7169G>A (p.Arg2390Lys)
c.3353G>A (p.Arg1118Lys)
c.2906G>A (p.Arg969Lys)
c.2243G>A (p.Arg748Lys)
c.6758G>A (p.Arg2253Lys)
n.8281G>A
5g.13793584T>ACA359221228DNAH5c.8155A>T (p.Arg2719Ter)
c.8110A>T (p.Arg2704Ter)
n.8362A>T
c.8263A>T (p.Arg2755Ter)
c.7168A>T (p.Arg2390Ter)
c.3352A>T (p.Arg1118Ter)
c.2905A>T (p.Arg969Ter)
c.2242A>T (p.Arg748Ter)
c.6757A>T (p.Arg2253Ter)
n.8280A>T
5g.13793584T>CCA359221229DNAH5c.8155A>G (p.Arg2719Gly)
c.8110A>G (p.Arg2704Gly)
n.8362A>G
c.8263A>G (p.Arg2755Gly)
c.7168A>G (p.Arg2390Gly)
c.3352A>G (p.Arg1118Gly)
c.2905A>G (p.Arg969Gly)
c.2242A>G (p.Arg748Gly)
c.6757A>G (p.Arg2253Gly)
n.8280A>G
5g.13793584T>GCA443265968DNAH5c.8155A>C (p.Arg2719=)
c.8110A>C (p.Arg2704=)
n.8362A>C
c.8263A>C (p.Arg2755=)
c.7168A>C (p.Arg2390=)
c.3352A>C (p.Arg1118=)
c.2905A>C (p.Arg969=)
c.2242A>C (p.Arg748=)
c.6757A>C (p.Arg2253=)
n.8280A>C
5g.13793585T>ACA359221231DNAH5c.8154A>T (p.Gln2718His)
c.8109A>T (p.Gln2703His)
n.8361A>T
c.8262A>T (p.Gln2754His)
c.7167A>T (p.Gln2389His)
c.3351A>T (p.Gln1117His)
c.2904A>T (p.Gln968His)
c.2241A>T (p.Gln747His)
c.6756A>T (p.Gln2252His)
n.8279A>T
5g.13793585T>CCA443265971DNAH5c.8154A>G (p.Gln2718=)
c.8109A>G (p.Gln2703=)
n.8361A>G
c.8262A>G (p.Gln2754=)
c.7167A>G (p.Gln2389=)
c.3351A>G (p.Gln1117=)
c.2904A>G (p.Gln968=)
c.2241A>G (p.Gln747=)
c.6756A>G (p.Gln2252=)
n.8279A>G
5g.13793585T>GCA359221232DNAH5c.8154A>C (p.Gln2718His)
c.8109A>C (p.Gln2703His)
n.8361A>C
c.8262A>C (p.Gln2754His)
c.7167A>C (p.Gln2389His)
c.3351A>C (p.Gln1117His)
c.2904A>C (p.Gln968His)
c.2241A>C (p.Gln747His)
c.6756A>C (p.Gln2252His)
n.8279A>C
5g.13793586T>ACA359221234DNAH5c.8153A>T (p.Gln2718Leu)
c.8108A>T (p.Gln2703Leu)
n.8360A>T
c.8261A>T (p.Gln2754Leu)
c.7166A>T (p.Gln2389Leu)
c.3350A>T (p.Gln1117Leu)
c.2903A>T (p.Gln968Leu)
c.2240A>T (p.Gln747Leu)
c.6755A>T (p.Gln2252Leu)
n.8278A>T
5g.13793586T>CCA359221235DNAH5c.8153A>G (p.Gln2718Arg)
c.8108A>G (p.Gln2703Arg)
n.8360A>G
c.8261A>G (p.Gln2754Arg)
c.7166A>G (p.Gln2389Arg)
c.3350A>G (p.Gln1117Arg)
c.2903A>G (p.Gln968Arg)
c.2240A>G (p.Gln747Arg)
c.6755A>G (p.Gln2252Arg)
n.8278A>G
 ClinVar dbSNP
5g.13793586T>GCA359221236DNAH5c.8153A>C (p.Gln2718Pro)
c.8108A>C (p.Gln2703Pro)
n.8360A>C
c.8261A>C (p.Gln2754Pro)
c.7166A>C (p.Gln2389Pro)
c.3350A>C (p.Gln1117Pro)
c.2903A>C (p.Gln968Pro)
c.2240A>C (p.Gln747Pro)
c.6755A>C (p.Gln2252Pro)
n.8278A>C
5g.13793586T=CA1528441650DNAH5c.8153A= (p.Gln2718=)
c.8108A= (p.Gln2703=)
n.8360A=
c.8261A= (p.Gln2754=)
c.7166A= (p.Gln2389=)
c.3350A= (p.Gln1117=)
c.2903A= (p.Gln968=)
c.2240A= (p.Gln747=)
c.6755A= (p.Gln2252=)
n.8278A=
5g.13793587G>ACA359221239DNAH5c.8152C>T (p.Gln2718Ter)
c.8107C>T (p.Gln2703Ter)
n.8359C>T
c.8260C>T (p.Gln2754Ter)
c.7165C>T (p.Gln2389Ter)
c.3349C>T (p.Gln1117Ter)
c.2902C>T (p.Gln968Ter)
c.2239C>T (p.Gln747Ter)
c.6754C>T (p.Gln2252Ter)
n.8277C>T
5g.13793587G>CCA3202886DNAH5c.8152C>G (p.Gln2718Glu)
c.8107C>G (p.Gln2703Glu)
n.8359C>G
c.8260C>G (p.Gln2754Glu)
c.7165C>G (p.Gln2389Glu)
c.3349C>G (p.Gln1117Glu)
c.2902C>G (p.Gln968Glu)
c.2239C>G (p.Gln747Glu)
c.6754C>G (p.Gln2252Glu)
n.8277C>G
 dbSNP ExAC gnomAD v2
5g.13793587G=CA1528441651DNAH5c.8152C= (p.Gln2718=)
c.8107C= (p.Gln2703=)
n.8359C=
c.8260C= (p.Gln2754=)
c.7165C= (p.Gln2389=)
c.3349C= (p.Gln1117=)
c.2902C= (p.Gln968=)
c.2239C= (p.Gln747=)
c.6754C= (p.Gln2252=)
n.8277C=
5g.13793587G>TCA359221238DNAH5c.8152C>A (p.Gln2718Lys)
c.8107C>A (p.Gln2703Lys)
n.8359C>A
c.8260C>A (p.Gln2754Lys)
c.7165C>A (p.Gln2389Lys)
c.3349C>A (p.Gln1117Lys)
c.2902C>A (p.Gln968Lys)
c.2239C>A (p.Gln747Lys)
c.6754C>A (p.Gln2252Lys)
n.8277C>A
5g.13793588G>ACA443265988DNAH5c.8151C>T (p.Pro2717=)
c.8106C>T (p.Pro2702=)
n.8358C>T
c.8259C>T (p.Pro2753=)
c.7164C>T (p.Pro2388=)
c.3348C>T (p.Pro1116=)
c.2901C>T (p.Pro967=)
c.2238C>T (p.Pro746=)
c.6753C>T (p.Pro2251=)
n.8276C>T
5g.13793588G>CCA443265991DNAH5c.8151C>G (p.Pro2717=)
c.8106C>G (p.Pro2702=)
n.8358C>G
c.8259C>G (p.Pro2753=)
c.7164C>G (p.Pro2388=)
c.3348C>G (p.Pro1116=)
c.2901C>G (p.Pro967=)
c.2238C>G (p.Pro746=)
c.6753C>G (p.Pro2251=)
n.8276C>G
 gnomAD v4
5g.13793588G=CA1528441652DNAH5c.8151C= (p.Pro2717=)
c.8106C= (p.Pro2702=)
n.8358C=
c.8259C= (p.Pro2753=)
c.7164C= (p.Pro2388=)
c.3348C= (p.Pro1116=)
c.2901C= (p.Pro967=)
c.2238C= (p.Pro746=)
c.6753C= (p.Pro2251=)
n.8276C=
5g.13793588G>TCA3202887DNAH5c.8151C>A (p.Pro2717=)
c.8106C>A (p.Pro2702=)
n.8358C>A
c.8259C>A (p.Pro2753=)
c.7164C>A (p.Pro2388=)
c.3348C>A (p.Pro1116=)
c.2901C>A (p.Pro967=)
c.2238C>A (p.Pro746=)
c.6753C>A (p.Pro2251=)
n.8276C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793589G>ACA359221242DNAH5c.8150C>T (p.Pro2717Leu)
c.8105C>T (p.Pro2702Leu)
n.8357C>T
c.8258C>T (p.Pro2753Leu)
c.7163C>T (p.Pro2388Leu)
c.3347C>T (p.Pro1116Leu)
c.2900C>T (p.Pro967Leu)
c.2237C>T (p.Pro746Leu)
c.6752C>T (p.Pro2251Leu)
n.8275C>T
 dbSNP gnomAD v4
5g.13793589G>CCA359221244DNAH5c.8150C>G (p.Pro2717Arg)
c.8105C>G (p.Pro2702Arg)
n.8357C>G
c.8258C>G (p.Pro2753Arg)
c.7163C>G (p.Pro2388Arg)
c.3347C>G (p.Pro1116Arg)
c.2900C>G (p.Pro967Arg)
c.2237C>G (p.Pro746Arg)
c.6752C>G (p.Pro2251Arg)
n.8275C>G
 gnomAD v4
5g.13793589G=CA1528441653DNAH5c.8150C= (p.Pro2717=)
c.8105C= (p.Pro2702=)
n.8357C=
c.8258C= (p.Pro2753=)
c.7163C= (p.Pro2388=)
c.3347C= (p.Pro1116=)
c.2900C= (p.Pro967=)
c.2237C= (p.Pro746=)
c.6752C= (p.Pro2251=)
n.8275C=
5g.13793589G>TCA359221245DNAH5c.8150C>A (p.Pro2717His)
c.8105C>A (p.Pro2702His)
n.8357C>A
c.8258C>A (p.Pro2753His)
c.7163C>A (p.Pro2388His)
c.3347C>A (p.Pro1116His)
c.2900C>A (p.Pro967His)
c.2237C>A (p.Pro746His)
c.6752C>A (p.Pro2251His)
n.8275C>A
5g.13793590_13793602delCA2673271247DNAH5c.8138_8150del (p.Arg2713ProfsTer27)
c.8093_8105del (p.Arg2698ProfsTer27)
n.8345_8357del
c.8246_8258del (p.Arg2749ProfsTer27)
c.7151_7163del (p.Arg2384ProfsTer27)
c.3335_3347del (p.Arg1112ProfsTer27)
c.2888_2900del (p.Arg963ProfsTer27)
c.2225_2237del (p.Arg742ProfsTer27)
c.6740_6752del (p.Arg2247ProfsTer27)
n.8263_8275del
 gnomAD v4
5g.13793590G>ACA3202888DNAH5c.8149C>T (p.Pro2717Ser)
c.8104C>T (p.Pro2702Ser)
n.8356C>T
c.8257C>T (p.Pro2753Ser)
c.7162C>T (p.Pro2388Ser)
c.3346C>T (p.Pro1116Ser)
c.2899C>T (p.Pro967Ser)
c.2236C>T (p.Pro746Ser)
c.6751C>T (p.Pro2251Ser)
n.8274C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793590G>CCA359221248DNAH5c.8149C>G (p.Pro2717Ala)
c.8104C>G (p.Pro2702Ala)
n.8356C>G
c.8257C>G (p.Pro2753Ala)
c.7162C>G (p.Pro2388Ala)
c.3346C>G (p.Pro1116Ala)
c.2899C>G (p.Pro967Ala)
c.2236C>G (p.Pro746Ala)
c.6751C>G (p.Pro2251Ala)
n.8274C>G
5g.13793590G=CA1528441654DNAH5c.8149C= (p.Pro2717=)
c.8104C= (p.Pro2702=)
n.8356C=
c.8257C= (p.Pro2753=)
c.7162C= (p.Pro2388=)
c.3346C= (p.Pro1116=)
c.2899C= (p.Pro967=)
c.2236C= (p.Pro746=)
c.6751C= (p.Pro2251=)
n.8274C=
5g.13793590G>TCA359221249DNAH5c.8149C>A (p.Pro2717Thr)
c.8104C>A (p.Pro2702Thr)
n.8356C>A
c.8257C>A (p.Pro2753Thr)
c.7162C>A (p.Pro2388Thr)
c.3346C>A (p.Pro1116Thr)
c.2899C>A (p.Pro967Thr)
c.2236C>A (p.Pro746Thr)
c.6751C>A (p.Pro2251Thr)
n.8274C>A
 gnomAD v4
5g.13793591T>ACA443266005DNAH5c.8148A>T (p.Ile2716=)
c.8103A>T (p.Ile2701=)
n.8355A>T
c.8256A>T (p.Ile2752=)
c.7161A>T (p.Ile2387=)
c.3345A>T (p.Ile1115=)
c.2898A>T (p.Ile966=)
c.2235A>T (p.Ile745=)
c.6750A>T (p.Ile2250=)
n.8273A>T
5g.13793591T>CCA359221251DNAH5c.8148A>G (p.Ile2716Met)
c.8103A>G (p.Ile2701Met)
n.8355A>G
c.8256A>G (p.Ile2752Met)
c.7161A>G (p.Ile2387Met)
c.3345A>G (p.Ile1115Met)
c.2898A>G (p.Ile966Met)
c.2235A>G (p.Ile745Met)
c.6750A>G (p.Ile2250Met)
n.8273A>G
5g.13793591T>GCA443266010DNAH5c.8148A>C (p.Ile2716=)
c.8103A>C (p.Ile2701=)
n.8355A>C
c.8256A>C (p.Ile2752=)
c.7161A>C (p.Ile2387=)
c.3345A>C (p.Ile1115=)
c.2898A>C (p.Ile966=)
c.2235A>C (p.Ile745=)
c.6750A>C (p.Ile2250=)
n.8273A>C
5g.13793592A=CA1528441655DNAH5c.8147T= (p.Ile2716=)
c.8102T= (p.Ile2701=)
n.8354T=
c.8255T= (p.Ile2752=)
c.7160T= (p.Ile2387=)
c.3344T= (p.Ile1115=)
c.2897T= (p.Ile966=)
c.2234T= (p.Ile745=)
c.6749T= (p.Ile2250=)
n.8272T=
5g.13793592A>CCA359221253DNAH5c.8147T>G (p.Ile2716Arg)
c.8102T>G (p.Ile2701Arg)
n.8354T>G
c.8255T>G (p.Ile2752Arg)
c.7160T>G (p.Ile2387Arg)
c.3344T>G (p.Ile1115Arg)
c.2897T>G (p.Ile966Arg)
c.2234T>G (p.Ile745Arg)
c.6749T>G (p.Ile2250Arg)
n.8272T>G
5g.13793592A>GCA3202889DNAH5c.8147T>C (p.Ile2716Thr)
c.8102T>C (p.Ile2701Thr)
n.8354T>C
c.8255T>C (p.Ile2752Thr)
c.7160T>C (p.Ile2387Thr)
c.3344T>C (p.Ile1115Thr)
c.2897T>C (p.Ile966Thr)
c.2234T>C (p.Ile745Thr)
c.6749T>C (p.Ile2250Thr)
n.8272T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793592A>TCA359221255DNAH5c.8147T>A (p.Ile2716Lys)
c.8102T>A (p.Ile2701Lys)
n.8354T>A
c.8255T>A (p.Ile2752Lys)
c.7160T>A (p.Ile2387Lys)
c.3344T>A (p.Ile1115Lys)
c.2897T>A (p.Ile966Lys)
c.2234T>A (p.Ile745Lys)
c.6749T>A (p.Ile2250Lys)
n.8272T>A
5g.13793593T>ACA359221256DNAH5c.8146A>T (p.Ile2716Leu)
c.8101A>T (p.Ile2701Leu)
n.8353A>T
c.8254A>T (p.Ile2752Leu)
c.7159A>T (p.Ile2387Leu)
c.3343A>T (p.Ile1115Leu)
c.2896A>T (p.Ile966Leu)
c.2233A>T (p.Ile745Leu)
c.6748A>T (p.Ile2250Leu)
n.8271A>T
5g.13793593T>CCA359221257DNAH5c.8146A>G (p.Ile2716Val)
c.8101A>G (p.Ile2701Val)
n.8353A>G
c.8254A>G (p.Ile2752Val)
c.7159A>G (p.Ile2387Val)
c.3343A>G (p.Ile1115Val)
c.2896A>G (p.Ile966Val)
c.2233A>G (p.Ile745Val)
c.6748A>G (p.Ile2250Val)
n.8271A>G
5g.13793593T>GCA359221259DNAH5c.8146A>C (p.Ile2716Leu)
c.8101A>C (p.Ile2701Leu)
n.8353A>C
c.8254A>C (p.Ile2752Leu)
c.7159A>C (p.Ile2387Leu)
c.3343A>C (p.Ile1115Leu)
c.2896A>C (p.Ile966Leu)
c.2233A>C (p.Ile745Leu)
c.6748A>C (p.Ile2250Leu)
n.8271A>C
5g.13793594G>ACA443266021DNAH5c.8145C>T (p.Asp2715=)
c.8100C>T (p.Asp2700=)
n.8352C>T
c.8253C>T (p.Asp2751=)
c.7158C>T (p.Asp2386=)
c.3342C>T (p.Asp1114=)
c.2895C>T (p.Asp965=)
c.2232C>T (p.Asp744=)
c.6747C>T (p.Asp2249=)
n.8270C>T
 ClinVar gnomAD v4
5g.13793594G>CCA359221261DNAH5c.8145C>G (p.Asp2715Glu)
c.8100C>G (p.Asp2700Glu)
n.8352C>G
c.8253C>G (p.Asp2751Glu)
c.7158C>G (p.Asp2386Glu)
c.3342C>G (p.Asp1114Glu)
c.2895C>G (p.Asp965Glu)
c.2232C>G (p.Asp744Glu)
c.6747C>G (p.Asp2249Glu)
n.8270C>G
 gnomAD v4
5g.13793594G>TCA359221260DNAH5c.8145C>A (p.Asp2715Glu)
c.8100C>A (p.Asp2700Glu)
n.8352C>A
c.8253C>A (p.Asp2751Glu)
c.7158C>A (p.Asp2386Glu)
c.3342C>A (p.Asp1114Glu)
c.2895C>A (p.Asp965Glu)
c.2232C>A (p.Asp744Glu)
c.6747C>A (p.Asp2249Glu)
n.8270C>A
5g.13793595T>ACA359221263DNAH5c.8144A>T (p.Asp2715Val)
c.8099A>T (p.Asp2700Val)
n.8351A>T
c.8252A>T (p.Asp2751Val)
c.7157A>T (p.Asp2386Val)
c.3341A>T (p.Asp1114Val)
c.2894A>T (p.Asp965Val)
c.2231A>T (p.Asp744Val)
c.6746A>T (p.Asp2249Val)
n.8269A>T
5g.13793595T>CCA359221264DNAH5c.8144A>G (p.Asp2715Gly)
c.8099A>G (p.Asp2700Gly)
n.8351A>G
c.8252A>G (p.Asp2751Gly)
c.7157A>G (p.Asp2386Gly)
c.3341A>G (p.Asp1114Gly)
c.2894A>G (p.Asp965Gly)
c.2231A>G (p.Asp744Gly)
c.6746A>G (p.Asp2249Gly)
n.8269A>G
 gnomAD v4
5g.13793595T>GCA359221266DNAH5c.8144A>C (p.Asp2715Ala)
c.8099A>C (p.Asp2700Ala)
n.8351A>C
c.8252A>C (p.Asp2751Ala)
c.7157A>C (p.Asp2386Ala)
c.3341A>C (p.Asp1114Ala)
c.2894A>C (p.Asp965Ala)
c.2231A>C (p.Asp744Ala)
c.6746A>C (p.Asp2249Ala)
n.8269A>C
5g.13793596C>ACA359221267DNAH5c.8143G>T (p.Asp2715Tyr)
c.8098G>T (p.Asp2700Tyr)
n.8350G>T
c.8251G>T (p.Asp2751Tyr)
c.7156G>T (p.Asp2386Tyr)
c.3340G>T (p.Asp1114Tyr)
c.2893G>T (p.Asp965Tyr)
c.2230G>T (p.Asp744Tyr)
c.6745G>T (p.Asp2249Tyr)
n.8268G>T
5g.13793596C>GCA359221268DNAH5c.8143G>C (p.Asp2715His)
c.8098G>C (p.Asp2700His)
n.8350G>C
c.8251G>C (p.Asp2751His)
c.7156G>C (p.Asp2386His)
c.3340G>C (p.Asp1114His)
c.2893G>C (p.Asp965His)
c.2230G>C (p.Asp744His)
c.6745G>C (p.Asp2249His)
n.8268G>C
5g.13793596C>TCA359221270DNAH5c.8143G>A (p.Asp2715Asn)
c.8098G>A (p.Asp2700Asn)
n.8350G>A
c.8251G>A (p.Asp2751Asn)
c.7156G>A (p.Asp2386Asn)
c.3340G>A (p.Asp1114Asn)
c.2893G>A (p.Asp965Asn)
c.2230G>A (p.Asp744Asn)
c.6745G>A (p.Asp2249Asn)
n.8268G>A
 COSMIC
5g.13793597A>CCA359221272DNAH5c.8142T>G (p.Asn2714Lys)
c.8097T>G (p.Asn2699Lys)
n.8349T>G
c.8250T>G (p.Asn2750Lys)
c.7155T>G (p.Asn2385Lys)
c.3339T>G (p.Asn1113Lys)
c.2892T>G (p.Asn964Lys)
c.2229T>G (p.Asn743Lys)
c.6744T>G (p.Asn2248Lys)
n.8267T>G
5g.13793597A>GCA443266034DNAH5c.8142T>C (p.Asn2714=)
c.8097T>C (p.Asn2699=)
n.8349T>C
c.8250T>C (p.Asn2750=)
c.7155T>C (p.Asn2385=)
c.3339T>C (p.Asn1113=)
c.2892T>C (p.Asn964=)
c.2229T>C (p.Asn743=)
c.6744T>C (p.Asn2248=)
n.8267T>C
5g.13793597A>TCA359221273DNAH5c.8142T>A (p.Asn2714Lys)
c.8097T>A (p.Asn2699Lys)
n.8349T>A
c.8250T>A (p.Asn2750Lys)
c.7155T>A (p.Asn2385Lys)
c.3339T>A (p.Asn1113Lys)
c.2892T>A (p.Asn964Lys)
c.2229T>A (p.Asn743Lys)
c.6744T>A (p.Asn2248Lys)
n.8267T>A
5g.13793598T>ACA359221275DNAH5c.8141A>T (p.Asn2714Ile)
c.8096A>T (p.Asn2699Ile)
n.8348A>T
c.8249A>T (p.Asn2750Ile)
c.7154A>T (p.Asn2385Ile)
c.3338A>T (p.Asn1113Ile)
c.2891A>T (p.Asn964Ile)
c.2228A>T (p.Asn743Ile)
c.6743A>T (p.Asn2248Ile)
n.8266A>T
5g.13793598T>CCA359221276DNAH5c.8141A>G (p.Asn2714Ser)
c.8096A>G (p.Asn2699Ser)
n.8348A>G
c.8249A>G (p.Asn2750Ser)
c.7154A>G (p.Asn2385Ser)
c.3338A>G (p.Asn1113Ser)
c.2891A>G (p.Asn964Ser)
c.2228A>G (p.Asn743Ser)
c.6743A>G (p.Asn2248Ser)
n.8266A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13793598T>GCA359221277DNAH5c.8141A>C (p.Asn2714Thr)
c.8096A>C (p.Asn2699Thr)
n.8348A>C
c.8249A>C (p.Asn2750Thr)
c.7154A>C (p.Asn2385Thr)
c.3338A>C (p.Asn1113Thr)
c.2891A>C (p.Asn964Thr)
c.2228A>C (p.Asn743Thr)
c.6743A>C (p.Asn2248Thr)
n.8266A>C
5g.13793598T=CA1528441656DNAH5c.8141A= (p.Asn2714=)
c.8096A= (p.Asn2699=)
n.8348A=
c.8249A= (p.Asn2750=)
c.7154A= (p.Asn2385=)
c.3338A= (p.Asn1113=)
c.2891A= (p.Asn964=)
c.2228A= (p.Asn743=)
c.6743A= (p.Asn2248=)
n.8266A=
5g.13793599delCA2573138452DNAH5c.8141del (p.Asn2714MetfsTer30)
c.8096del (p.Asn2699MetfsTer30)
n.8348del
c.8249del (p.Asn2750MetfsTer30)
c.7154del (p.Asn2385MetfsTer30)
c.3338del (p.Asn1113MetfsTer30)
c.2891del (p.Asn964MetfsTer30)
c.2228del (p.Asn743MetfsTer30)
c.6743del (p.Asn2248MetfsTer30)
n.8266del
 ClinVar dbSNP
5g.13793599T>ACA359221279DNAH5c.8140A>T (p.Asn2714Tyr)
c.8095A>T (p.Asn2699Tyr)
n.8347A>T
c.8248A>T (p.Asn2750Tyr)
c.7153A>T (p.Asn2385Tyr)
c.3337A>T (p.Asn1113Tyr)
c.2890A>T (p.Asn964Tyr)
c.2227A>T (p.Asn743Tyr)
c.6742A>T (p.Asn2248Tyr)
n.8265A>T
5g.13793599T>CCA359221280DNAH5c.8140A>G (p.Asn2714Asp)
c.8095A>G (p.Asn2699Asp)
n.8347A>G
c.8248A>G (p.Asn2750Asp)
c.7153A>G (p.Asn2385Asp)
c.3337A>G (p.Asn1113Asp)
c.2890A>G (p.Asn964Asp)
c.2227A>G (p.Asn743Asp)
c.6742A>G (p.Asn2248Asp)
n.8265A>G
 gnomAD v4
5g.13793599T>GCA359221281DNAH5c.8140A>C (p.Asn2714His)
c.8095A>C (p.Asn2699His)
n.8347A>C
c.8248A>C (p.Asn2750His)
c.7153A>C (p.Asn2385His)
c.3337A>C (p.Asn1113His)
c.2890A>C (p.Asn964His)
c.2227A>C (p.Asn743His)
c.6742A>C (p.Asn2248His)
n.8265A>C
 dbSNP gnomAD v4
5g.13793599T=CA1528441657DNAH5c.8140A= (p.Asn2714=)
c.8095A= (p.Asn2699=)
n.8347A=
c.8248A= (p.Asn2750=)
c.7153A= (p.Asn2385=)
c.3337A= (p.Asn1113=)
c.2890A= (p.Asn964=)
c.2227A= (p.Asn743=)
c.6742A= (p.Asn2248=)
n.8265A=
5g.13793600G>ACA443266056DNAH5c.8139C>T (p.Arg2713=)
c.8094C>T (p.Arg2698=)
n.8346C>T
c.8247C>T (p.Arg2749=)
c.7152C>T (p.Arg2384=)
c.3336C>T (p.Arg1112=)
c.2889C>T (p.Arg963=)
c.2226C>T (p.Arg742=)
c.6741C>T (p.Arg2247=)
n.8264C>T
 dbSNP gnomAD v2 gnomAD v4
5g.13793600G>CCA443266060DNAH5c.8139C>G (p.Arg2713=)
c.8094C>G (p.Arg2698=)
n.8346C>G
c.8247C>G (p.Arg2749=)
c.7152C>G (p.Arg2384=)
c.3336C>G (p.Arg1112=)
c.2889C>G (p.Arg963=)
c.2226C>G (p.Arg742=)
c.6741C>G (p.Arg2247=)
n.8264C>G
5g.13793600G=CA1528441658DNAH5c.8139C= (p.Arg2713=)
c.8094C= (p.Arg2698=)
n.8346C=
c.8247C= (p.Arg2749=)
c.7152C= (p.Arg2384=)
c.3336C= (p.Arg1112=)
c.2889C= (p.Arg963=)
c.2226C= (p.Arg742=)
c.6741C= (p.Arg2247=)
n.8264C=
5g.13793600G>TCA443266057DNAH5c.8139C>A (p.Arg2713=)
c.8094C>A (p.Arg2698=)
n.8346C>A
c.8247C>A (p.Arg2749=)
c.7152C>A (p.Arg2384=)
c.3336C>A (p.Arg1112=)
c.2889C>A (p.Arg963=)
c.2226C>A (p.Arg742=)
c.6741C>A (p.Arg2247=)
n.8264C>A
5g.13793601C>ACA359221282DNAH5c.8138G>T (p.Arg2713Leu)
c.8093G>T (p.Arg2698Leu)
n.8345G>T
c.8246G>T (p.Arg2749Leu)
c.7151G>T (p.Arg2384Leu)
c.3335G>T (p.Arg1112Leu)
c.2888G>T (p.Arg963Leu)
c.2225G>T (p.Arg742Leu)
c.6740G>T (p.Arg2247Leu)
n.8263G>T
5g.13793601C=CA1528441659DNAH5c.8138G= (p.Arg2713=)
c.8093G= (p.Arg2698=)
n.8345G=
c.8246G= (p.Arg2749=)
c.7151G= (p.Arg2384=)
c.3335G= (p.Arg1112=)
c.2888G= (p.Arg963=)
c.2225G= (p.Arg742=)
c.6740G= (p.Arg2247=)
n.8263G=
5g.13793601C>GCA359221283DNAH5c.8138G>C (p.Arg2713Pro)
c.8093G>C (p.Arg2698Pro)
n.8345G>C
c.8246G>C (p.Arg2749Pro)
c.7151G>C (p.Arg2384Pro)
c.3335G>C (p.Arg1112Pro)
c.2888G>C (p.Arg963Pro)
c.2225G>C (p.Arg742Pro)
c.6740G>C (p.Arg2247Pro)
n.8263G>C
 dbSNP gnomAD v2 gnomAD v4
5g.13793601C>TCA3202890DNAH5c.8138G>A (p.Arg2713His)
c.8093G>A (p.Arg2698His)
n.8345G>A
c.8246G>A (p.Arg2749His)
c.7151G>A (p.Arg2384His)
c.3335G>A (p.Arg1112His)
c.2888G>A (p.Arg963His)
c.2225G>A (p.Arg742His)
c.6740G>A (p.Arg2247His)
n.8263G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13793602G>ACA3202891DNAH5c.8137C>T (p.Arg2713Cys)
c.8092C>T (p.Arg2698Cys)
n.8344C>T
c.8245C>T (p.Arg2749Cys)
c.7150C>T (p.Arg2384Cys)
c.3334C>T (p.Arg1112Cys)
c.2887C>T (p.Arg963Cys)
c.2224C>T (p.Arg742Cys)
c.6739C>T (p.Arg2247Cys)
n.8262C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793602G>CCA359221288DNAH5c.8137C>G (p.Arg2713Gly)
c.8092C>G (p.Arg2698Gly)
n.8344C>G
c.8245C>G (p.Arg2749Gly)
c.7150C>G (p.Arg2384Gly)
c.3334C>G (p.Arg1112Gly)
c.2887C>G (p.Arg963Gly)
c.2224C>G (p.Arg742Gly)
c.6739C>G (p.Arg2247Gly)
n.8262C>G
5g.13793602G=CA1528441660DNAH5c.8137C= (p.Arg2713=)
c.8092C= (p.Arg2698=)
n.8344C=
c.8245C= (p.Arg2749=)
c.7150C= (p.Arg2384=)
c.3334C= (p.Arg1112=)
c.2887C= (p.Arg963=)
c.2224C= (p.Arg742=)
c.6739C= (p.Arg2247=)
n.8262C=
5g.13793602G>TCA359221286DNAH5c.8137C>A (p.Arg2713Ser)
c.8092C>A (p.Arg2698Ser)
n.8344C>A
c.8245C>A (p.Arg2749Ser)
c.7150C>A (p.Arg2384Ser)
c.3334C>A (p.Arg1112Ser)
c.2887C>A (p.Arg963Ser)
c.2224C>A (p.Arg742Ser)
c.6739C>A (p.Arg2247Ser)
n.8262C>A
5g.13793603T>ACA443266074DNAH5c.8136A>T (p.Gly2712=)
c.8091A>T (p.Gly2697=)
n.8343A>T
c.8244A>T (p.Gly2748=)
c.7149A>T (p.Gly2383=)
c.3333A>T (p.Gly1111=)
c.2886A>T (p.Gly962=)
c.2223A>T (p.Gly741=)
c.6738A>T (p.Gly2246=)
n.8261A>T
5g.13793603T>CCA443266077DNAH5c.8136A>G (p.Gly2712=)
c.8091A>G (p.Gly2697=)
n.8343A>G
c.8244A>G (p.Gly2748=)
c.7149A>G (p.Gly2383=)
c.3333A>G (p.Gly1111=)
c.2886A>G (p.Gly962=)
c.2223A>G (p.Gly741=)
c.6738A>G (p.Gly2246=)
n.8261A>G
5g.13793603T>GCA443266079DNAH5c.8136A>C (p.Gly2712=)
c.8091A>C (p.Gly2697=)
n.8343A>C
c.8244A>C (p.Gly2748=)
c.7149A>C (p.Gly2383=)
c.3333A>C (p.Gly1111=)
c.2886A>C (p.Gly962=)
c.2223A>C (p.Gly741=)
c.6738A>C (p.Gly2246=)
n.8261A>C
5g.13793604C>ACA359221289DNAH5c.8135G>T (p.Gly2712Val)
c.8090G>T (p.Gly2697Val)
n.8342G>T
c.8243G>T (p.Gly2748Val)
c.7148G>T (p.Gly2383Val)
c.3332G>T (p.Gly1111Val)
c.2885G>T (p.Gly962Val)
c.2222G>T (p.Gly741Val)
c.6737G>T (p.Gly2246Val)
n.8260G>T
5g.13793604C>GCA359221290DNAH5c.8135G>C (p.Gly2712Ala)
c.8090G>C (p.Gly2697Ala)
n.8342G>C
c.8243G>C (p.Gly2748Ala)
c.7148G>C (p.Gly2383Ala)
c.3332G>C (p.Gly1111Ala)
c.2885G>C (p.Gly962Ala)
c.2222G>C (p.Gly741Ala)
c.6737G>C (p.Gly2246Ala)
n.8260G>C
5g.13793604C>TCA359221292DNAH5c.8135G>A (p.Gly2712Glu)
c.8090G>A (p.Gly2697Glu)
n.8342G>A
c.8243G>A (p.Gly2748Glu)
c.7148G>A (p.Gly2383Glu)
c.3332G>A (p.Gly1111Glu)
c.2885G>A (p.Gly962Glu)
c.2222G>A (p.Gly741Glu)
c.6737G>A (p.Gly2246Glu)
n.8260G>A
5g.13793605delCA2695204158DNAH5c.8135del (p.Gly2712AspfsTer?)
c.8090del (p.Gly2697AspfsTer?)
n.8342del
c.8243del (p.Gly2748AspfsTer?)
c.7148del (p.Gly2383AspfsTer?)
c.3332del (p.Gly1111AspfsTer?)
c.2885del (p.Gly962AspfsTer?)
c.2222del (p.Gly741AspfsTer?)
c.6737del (p.Gly2246AspfsTer?)
n.8260del
5g.13793605C>ACA359221293DNAH5c.8134G>T (p.Gly2712Ter)
c.8089G>T (p.Gly2697Ter)
n.8341G>T
c.8242G>T (p.Gly2748Ter)
c.7147G>T (p.Gly2383Ter)
c.3331G>T (p.Gly1111Ter)
c.2884G>T (p.Gly962Ter)
c.2221G>T (p.Gly741Ter)
c.6736G>T (p.Gly2246Ter)
n.8259G>T
5g.13793605C>GCA359221295DNAH5c.8134G>C (p.Gly2712Arg)
c.8089G>C (p.Gly2697Arg)
n.8341G>C
c.8242G>C (p.Gly2748Arg)
c.7147G>C (p.Gly2383Arg)
c.3331G>C (p.Gly1111Arg)
c.2884G>C (p.Gly962Arg)
c.2221G>C (p.Gly741Arg)
c.6736G>C (p.Gly2246Arg)
n.8259G>C
5g.13793605C>TCA359221297DNAH5c.8134G>A (p.Gly2712Arg)
c.8089G>A (p.Gly2697Arg)
n.8341G>A
c.8242G>A (p.Gly2748Arg)
c.7147G>A (p.Gly2383Arg)
c.3331G>A (p.Gly1111Arg)
c.2884G>A (p.Gly962Arg)
c.2221G>A (p.Gly741Arg)
c.6736G>A (p.Gly2246Arg)
n.8259G>A
5g.13793606A>CCA443266090DNAH5c.8133T>G (p.Gly2711=)
c.8088T>G (p.Gly2696=)
n.8340T>G
c.8241T>G (p.Gly2747=)
c.7146T>G (p.Gly2382=)
c.3330T>G (p.Gly1110=)
c.2883T>G (p.Gly961=)
c.2220T>G (p.Gly740=)
c.6735T>G (p.Gly2245=)
n.8258T>G
 ClinVar dbSNP
5g.13793606A>GCA443266093DNAH5c.8133T>C (p.Gly2711=)
c.8088T>C (p.Gly2696=)
n.8340T>C
c.8241T>C (p.Gly2747=)
c.7146T>C (p.Gly2382=)
c.3330T>C (p.Gly1110=)
c.2883T>C (p.Gly961=)
c.2220T>C (p.Gly740=)
c.6735T>C (p.Gly2245=)
n.8258T>C
5g.13793606A>TCA443266097DNAH5c.8133T>A (p.Gly2711=)
c.8088T>A (p.Gly2696=)
n.8340T>A
c.8241T>A (p.Gly2747=)
c.7146T>A (p.Gly2382=)
c.3330T>A (p.Gly1110=)
c.2883T>A (p.Gly961=)
c.2220T>A (p.Gly740=)
c.6735T>A (p.Gly2245=)
n.8258T>A
5g.13793607C>ACA359221298DNAH5c.8132G>T (p.Gly2711Val)
c.8087G>T (p.Gly2696Val)
n.8339G>T
c.8240G>T (p.Gly2747Val)
c.7145G>T (p.Gly2382Val)
c.3329G>T (p.Gly1110Val)
c.2882G>T (p.Gly961Val)
c.2219G>T (p.Gly740Val)
c.6734G>T (p.Gly2245Val)
n.8257G>T
5g.13793607C=CA1528441661DNAH5c.8132G= (p.Gly2711=)
c.8087G= (p.Gly2696=)
n.8339G=
c.8240G= (p.Gly2747=)
c.7145G= (p.Gly2382=)
c.3329G= (p.Gly1110=)
c.2882G= (p.Gly961=)
c.2219G= (p.Gly740=)
c.6734G= (p.Gly2245=)
n.8257G=
5g.13793607C>GCA359221299DNAH5c.8132G>C (p.Gly2711Ala)
c.8087G>C (p.Gly2696Ala)
n.8339G>C
c.8240G>C (p.Gly2747Ala)
c.7145G>C (p.Gly2382Ala)
c.3329G>C (p.Gly1110Ala)
c.2882G>C (p.Gly961Ala)
c.2219G>C (p.Gly740Ala)
c.6734G>C (p.Gly2245Ala)
n.8257G>C
5g.13793607C>TCA359221301DNAH5c.8132G>A (p.Gly2711Asp)
c.8087G>A (p.Gly2696Asp)
n.8339G>A
c.8240G>A (p.Gly2747Asp)
c.7145G>A (p.Gly2382Asp)
c.3329G>A (p.Gly1110Asp)
c.2882G>A (p.Gly961Asp)
c.2219G>A (p.Gly740Asp)
c.6734G>A (p.Gly2245Asp)
n.8257G>A
 dbSNP
5g.13793608delCA2673271248DNAH5c.8132del (p.Gly2711ValfsTer?)
c.8087del (p.Gly2696ValfsTer?)
n.8339del
c.8240del (p.Gly2747ValfsTer?)
c.7145del (p.Gly2382ValfsTer?)
c.3329del (p.Gly1110ValfsTer?)
c.2882del (p.Gly961ValfsTer?)
c.2219del (p.Gly740ValfsTer?)
c.6734del (p.Gly2245ValfsTer?)
n.8257del
 ClinVar gnomAD v4
5g.13793608C>ACA359221303DNAH5c.8131G>T (p.Gly2711Cys)
c.8086G>T (p.Gly2696Cys)
n.8338G>T
c.8239G>T (p.Gly2747Cys)
c.7144G>T (p.Gly2382Cys)
c.3328G>T (p.Gly1110Cys)
c.2881G>T (p.Gly961Cys)
c.2218G>T (p.Gly740Cys)
c.6733G>T (p.Gly2245Cys)
n.8256G>T
5g.13793608C>GCA359221305DNAH5c.8131G>C (p.Gly2711Arg)
c.8086G>C (p.Gly2696Arg)
n.8338G>C
c.8239G>C (p.Gly2747Arg)
c.7144G>C (p.Gly2382Arg)
c.3328G>C (p.Gly1110Arg)
c.2881G>C (p.Gly961Arg)
c.2218G>C (p.Gly740Arg)
c.6733G>C (p.Gly2245Arg)
n.8256G>C
5g.13793608C>TCA359221306DNAH5c.8131G>A (p.Gly2711Ser)
c.8086G>A (p.Gly2696Ser)
n.8338G>A
c.8239G>A (p.Gly2747Ser)
c.7144G>A (p.Gly2382Ser)
c.3328G>A (p.Gly1110Ser)
c.2881G>A (p.Gly961Ser)
c.2218G>A (p.Gly740Ser)
c.6733G>A (p.Gly2245Ser)
n.8256G>A
5g.13793609A>CCA443266112DNAH5c.8130T>G (p.Gly2710=)
c.8085T>G (p.Gly2695=)
n.8337T>G
c.8238T>G (p.Gly2746=)
c.7143T>G (p.Gly2381=)
c.3327T>G (p.Gly1109=)
c.2880T>G (p.Gly960=)
c.2217T>G (p.Gly739=)
c.6732T>G (p.Gly2244=)
n.8255T>G
5g.13793609A>GCA443266114DNAH5c.8130T>C (p.Gly2710=)
c.8085T>C (p.Gly2695=)
n.8337T>C
c.8238T>C (p.Gly2746=)
c.7143T>C (p.Gly2381=)
c.3327T>C (p.Gly1109=)
c.2880T>C (p.Gly960=)
c.2217T>C (p.Gly739=)
c.6732T>C (p.Gly2244=)
n.8255T>C
5g.13793609A>TCA443266116DNAH5c.8130T>A (p.Gly2710=)
c.8085T>A (p.Gly2695=)
n.8337T>A
c.8238T>A (p.Gly2746=)
c.7143T>A (p.Gly2381=)
c.3327T>A (p.Gly1109=)
c.2880T>A (p.Gly960=)
c.2217T>A (p.Gly739=)
c.6732T>A (p.Gly2244=)
n.8255T>A
5g.13793610C>ACA359221310DNAH5c.8129G>T (p.Gly2710Val)
c.8084G>T (p.Gly2695Val)
n.8336G>T
c.8237G>T (p.Gly2746Val)
c.7142G>T (p.Gly2381Val)
c.3326G>T (p.Gly1109Val)
c.2879G>T (p.Gly960Val)
c.2216G>T (p.Gly739Val)
c.6731G>T (p.Gly2244Val)
n.8254G>T
5g.13793610C=CA1528441662DNAH5c.8129G= (p.Gly2710=)
c.8084G= (p.Gly2695=)
n.8336G=
c.8237G= (p.Gly2746=)
c.7142G= (p.Gly2381=)
c.3326G= (p.Gly1109=)
c.2879G= (p.Gly960=)
c.2216G= (p.Gly739=)
c.6731G= (p.Gly2244=)
n.8254G=
5g.13793610C>GCA359221308DNAH5c.8129G>C (p.Gly2710Ala)
c.8084G>C (p.Gly2695Ala)
n.8336G>C
c.8237G>C (p.Gly2746Ala)
c.7142G>C (p.Gly2381Ala)
c.3326G>C (p.Gly1109Ala)
c.2879G>C (p.Gly960Ala)
c.2216G>C (p.Gly739Ala)
c.6731G>C (p.Gly2244Ala)
n.8254G>C
5g.13793610C>TCA359221309DNAH5c.8129G>A (p.Gly2710Asp)
c.8084G>A (p.Gly2695Asp)
n.8336G>A
c.8237G>A (p.Gly2746Asp)
c.7142G>A (p.Gly2381Asp)
c.3326G>A (p.Gly1109Asp)
c.2879G>A (p.Gly960Asp)
c.2216G>A (p.Gly739Asp)
c.6731G>A (p.Gly2244Asp)
n.8254G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13793611C>ACA359221311DNAH5c.8128G>T (p.Gly2710Cys)
c.8083G>T (p.Gly2695Cys)
n.8335G>T
c.8236G>T (p.Gly2746Cys)
c.7141G>T (p.Gly2381Cys)
c.3325G>T (p.Gly1109Cys)
c.2878G>T (p.Gly960Cys)
c.2215G>T (p.Gly739Cys)
c.6730G>T (p.Gly2244Cys)
n.8253G>T
 COSMIC
5g.13793611C=CA1528441663DNAH5c.8128G= (p.Gly2710=)
c.8083G= (p.Gly2695=)
n.8335G=
c.8236G= (p.Gly2746=)
c.7141G= (p.Gly2381=)
c.3325G= (p.Gly1109=)
c.2878G= (p.Gly960=)
c.2215G= (p.Gly739=)
c.6730G= (p.Gly2244=)
n.8253G=
5g.13793611C>GCA359221313DNAH5c.8128G>C (p.Gly2710Arg)
c.8083G>C (p.Gly2695Arg)
n.8335G>C
c.8236G>C (p.Gly2746Arg)
c.7141G>C (p.Gly2381Arg)
c.3325G>C (p.Gly1109Arg)
c.2878G>C (p.Gly960Arg)
c.2215G>C (p.Gly739Arg)
c.6730G>C (p.Gly2244Arg)
n.8253G>C
5g.13793611C>TCA359221314DNAH5c.8128G>A (p.Gly2710Ser)
c.8083G>A (p.Gly2695Ser)
n.8335G>A
c.8236G>A (p.Gly2746Ser)
c.7141G>A (p.Gly2381Ser)
c.3325G>A (p.Gly1109Ser)
c.2878G>A (p.Gly960Ser)
c.2215G>A (p.Gly739Ser)
c.6730G>A (p.Gly2244Ser)
n.8253G>A
 ClinVar dbSNP gnomAD v4
5g.13793612A=CA1528441664DNAH5c.8127T= (p.Pro2709=)
c.8082T= (p.Pro2694=)
n.8334T=
c.8235T= (p.Pro2745=)
c.7140T= (p.Pro2380=)
c.3324T= (p.Pro1108=)
c.2877T= (p.Pro959=)
c.2214T= (p.Pro738=)
c.6729T= (p.Pro2243=)
n.8252T=
5g.13793612A>CCA443266130DNAH5c.8127T>G (p.Pro2709=)
c.8082T>G (p.Pro2694=)
n.8334T>G
c.8235T>G (p.Pro2745=)
c.7140T>G (p.Pro2380=)
c.3324T>G (p.Pro1108=)
c.2877T>G (p.Pro959=)
c.2214T>G (p.Pro738=)
c.6729T>G (p.Pro2243=)
n.8252T>G
5g.13793612A>GCA443266132DNAH5c.8127T>C (p.Pro2709=)
c.8082T>C (p.Pro2694=)
n.8334T>C
c.8235T>C (p.Pro2745=)
c.7140T>C (p.Pro2380=)
c.3324T>C (p.Pro1108=)
c.2877T>C (p.Pro959=)
c.2214T>C (p.Pro738=)
c.6729T>C (p.Pro2243=)
n.8252T>C
 ClinVar dbSNP gnomAD v4
5g.13793612A>TCA443266136DNAH5c.8127T>A (p.Pro2709=)
c.8082T>A (p.Pro2694=)
n.8334T>A
c.8235T>A (p.Pro2745=)
c.7140T>A (p.Pro2380=)
c.3324T>A (p.Pro1108=)
c.2877T>A (p.Pro959=)
c.2214T>A (p.Pro738=)
c.6729T>A (p.Pro2243=)
n.8252T>A
5g.13793613G>ACA3202892DNAH5c.8126C>T (p.Pro2709Leu)
c.8081C>T (p.Pro2694Leu)
n.8333C>T
c.8234C>T (p.Pro2745Leu)
c.7139C>T (p.Pro2380Leu)
c.3323C>T (p.Pro1108Leu)
c.2876C>T (p.Pro959Leu)
c.2213C>T (p.Pro738Leu)
c.6728C>T (p.Pro2243Leu)
n.8251C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793613G>CCA359221316DNAH5c.8126C>G (p.Pro2709Arg)
c.8081C>G (p.Pro2694Arg)
n.8333C>G
c.8234C>G (p.Pro2745Arg)
c.7139C>G (p.Pro2380Arg)
c.3323C>G (p.Pro1108Arg)
c.2876C>G (p.Pro959Arg)
c.2213C>G (p.Pro738Arg)
c.6728C>G (p.Pro2243Arg)
n.8251C>G
5g.13793613G=CA1528441665DNAH5c.8126C= (p.Pro2709=)
c.8081C= (p.Pro2694=)
n.8333C=
c.8234C= (p.Pro2745=)
c.7139C= (p.Pro2380=)
c.3323C= (p.Pro1108=)
c.2876C= (p.Pro959=)
c.2213C= (p.Pro738=)
c.6728C= (p.Pro2243=)
n.8251C=
5g.13793613G>TCA359221317DNAH5c.8126C>A (p.Pro2709His)
c.8081C>A (p.Pro2694His)
n.8333C>A
c.8234C>A (p.Pro2745His)
c.7139C>A (p.Pro2380His)
c.3323C>A (p.Pro1108His)
c.2876C>A (p.Pro959His)
c.2213C>A (p.Pro738His)
c.6728C>A (p.Pro2243His)
n.8251C>A
5g.13793614G>ACA359221319DNAH5c.8125C>T (p.Pro2709Ser)
c.8080C>T (p.Pro2694Ser)
n.8332C>T
c.8233C>T (p.Pro2745Ser)
c.7138C>T (p.Pro2380Ser)
c.3322C>T (p.Pro1108Ser)
c.2875C>T (p.Pro959Ser)
c.2212C>T (p.Pro738Ser)
c.6727C>T (p.Pro2243Ser)
n.8250C>T
 gnomAD v4
5g.13793614G>CCA359221321DNAH5c.8125C>G (p.Pro2709Ala)
c.8080C>G (p.Pro2694Ala)
n.8332C>G
c.8233C>G (p.Pro2745Ala)
c.7138C>G (p.Pro2380Ala)
c.3322C>G (p.Pro1108Ala)
c.2875C>G (p.Pro959Ala)
c.2212C>G (p.Pro738Ala)
c.6727C>G (p.Pro2243Ala)
n.8250C>G
5g.13793614G>TCA359221322DNAH5c.8125C>A (p.Pro2709Thr)
c.8080C>A (p.Pro2694Thr)
n.8332C>A
c.8233C>A (p.Pro2745Thr)
c.7138C>A (p.Pro2380Thr)
c.3322C>A (p.Pro1108Thr)
c.2875C>A (p.Pro959Thr)
c.2212C>A (p.Pro738Thr)
c.6727C>A (p.Pro2243Thr)
n.8250C>A
5g.13793615A>CCA359221324DNAH5c.8124T>G (p.His2708Gln)
c.8079T>G (p.His2693Gln)
n.8331T>G
c.8232T>G (p.His2744Gln)
c.7137T>G (p.His2379Gln)
c.3321T>G (p.His1107Gln)
c.2874T>G (p.His958Gln)
c.2211T>G (p.His737Gln)
c.6726T>G (p.His2242Gln)
n.8249T>G
5g.13793615A>GCA443266152DNAH5c.8124T>C (p.His2708=)
c.8079T>C (p.His2693=)
n.8331T>C
c.8232T>C (p.His2744=)
c.7137T>C (p.His2379=)
c.3321T>C (p.His1107=)
c.2874T>C (p.His958=)
c.2211T>C (p.His737=)
c.6726T>C (p.His2242=)
n.8249T>C
5g.13793615A>TCA359221325DNAH5c.8124T>A (p.His2708Gln)
c.8079T>A (p.His2693Gln)
n.8331T>A
c.8232T>A (p.His2744Gln)
c.7137T>A (p.His2379Gln)
c.3321T>A (p.His1107Gln)
c.2874T>A (p.His958Gln)
c.2211T>A (p.His737Gln)
c.6726T>A (p.His2242Gln)
n.8249T>A
5g.13793616T>ACA359221329DNAH5c.8123A>T (p.His2708Leu)
c.8078A>T (p.His2693Leu)
n.8330A>T
c.8231A>T (p.His2744Leu)
c.7136A>T (p.His2379Leu)
c.3320A>T (p.His1107Leu)
c.2873A>T (p.His958Leu)
c.2210A>T (p.His737Leu)
c.6725A>T (p.His2242Leu)
n.8248A>T
5g.13793616T>CCA3202893DNAH5c.8123A>G (p.His2708Arg)
c.8078A>G (p.His2693Arg)
n.8330A>G
c.8231A>G (p.His2744Arg)
c.7136A>G (p.His2379Arg)
c.3320A>G (p.His1107Arg)
c.2873A>G (p.His958Arg)
c.2210A>G (p.His737Arg)
c.6725A>G (p.His2242Arg)
n.8248A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793616T>GCA359221327DNAH5c.8123A>C (p.His2708Pro)
c.8078A>C (p.His2693Pro)
n.8330A>C
c.8231A>C (p.His2744Pro)
c.7136A>C (p.His2379Pro)
c.3320A>C (p.His1107Pro)
c.2873A>C (p.His958Pro)
c.2210A>C (p.His737Pro)
c.6725A>C (p.His2242Pro)
n.8248A>C
5g.13793616T=CA1528441666DNAH5c.8123A= (p.His2708=)
c.8078A= (p.His2693=)
n.8330A=
c.8231A= (p.His2744=)
c.7136A= (p.His2379=)
c.3320A= (p.His1107=)
c.2873A= (p.His958=)
c.2210A= (p.His737=)
c.6725A= (p.His2242=)
n.8248A=
5g.13793617G>ACA359221330DNAH5c.8122C>T (p.His2708Tyr)
c.8077C>T (p.His2693Tyr)
n.8329C>T
c.8230C>T (p.His2744Tyr)
c.7135C>T (p.His2379Tyr)
c.3319C>T (p.His1107Tyr)
c.2872C>T (p.His958Tyr)
c.2209C>T (p.His737Tyr)
c.6724C>T (p.His2242Tyr)
n.8247C>T
 ClinVar dbSNP
5g.13793617G>CCA359221332DNAH5c.8122C>G (p.His2708Asp)
c.8077C>G (p.His2693Asp)
n.8329C>G
c.8230C>G (p.His2744Asp)
c.7135C>G (p.His2379Asp)
c.3319C>G (p.His1107Asp)
c.2872C>G (p.His958Asp)
c.2209C>G (p.His737Asp)
c.6724C>G (p.His2242Asp)
n.8247C>G
5g.13793617G=CA1528441667DNAH5c.8122C= (p.His2708=)
c.8077C= (p.His2693=)
n.8329C=
c.8230C= (p.His2744=)
c.7135C= (p.His2379=)
c.3319C= (p.His1107=)
c.2872C= (p.His958=)
c.2209C= (p.His737=)
c.6724C= (p.His2242=)
n.8247C=
5g.13793617G>TCA359221334DNAH5c.8122C>A (p.His2708Asn)
c.8077C>A (p.His2693Asn)
n.8329C>A
c.8230C>A (p.His2744Asn)
c.7135C>A (p.His2379Asn)
c.3319C>A (p.His1107Asn)
c.2872C>A (p.His958Asn)
c.2209C>A (p.His737Asn)
c.6724C>A (p.His2242Asn)
n.8247C>A
5g.13793618G>ACA443266164DNAH5c.8121C>T (p.Ile2707=)
c.8076C>T (p.Ile2692=)
n.8328C>T
c.8229C>T (p.Ile2743=)
c.7134C>T (p.Ile2378=)
c.3318C>T (p.Ile1106=)
c.2871C>T (p.Ile957=)
c.2208C>T (p.Ile736=)
c.6723C>T (p.Ile2241=)
n.8246C>T
 ClinVar COSMIC
5g.13793618G>CCA359221335DNAH5c.8121C>G (p.Ile2707Met)
c.8076C>G (p.Ile2692Met)
n.8328C>G
c.8229C>G (p.Ile2743Met)
c.7134C>G (p.Ile2378Met)
c.3318C>G (p.Ile1106Met)
c.2871C>G (p.Ile957Met)
c.2208C>G (p.Ile736Met)
c.6723C>G (p.Ile2241Met)
n.8246C>G
5g.13793618G>TCA443266168DNAH5c.8121C>A (p.Ile2707=)
c.8076C>A (p.Ile2692=)
n.8328C>A
c.8229C>A (p.Ile2743=)
c.7134C>A (p.Ile2378=)
c.3318C>A (p.Ile1106=)
c.2871C>A (p.Ile957=)
c.2208C>A (p.Ile736=)
c.6723C>A (p.Ile2241=)
n.8246C>A
5g.13793619A=CA1528441668DNAH5c.8120T= (p.Ile2707=)
c.8075T= (p.Ile2692=)
n.8327T=
c.8228T= (p.Ile2743=)
c.7133T= (p.Ile2378=)
c.3317T= (p.Ile1106=)
c.2870T= (p.Ile957=)
c.2207T= (p.Ile736=)
c.6722T= (p.Ile2241=)
n.8245T=
5g.13793619A>CCA113961843DNAH5c.8120T>G (p.Ile2707Ser)
c.8075T>G (p.Ile2692Ser)
n.8327T>G
c.8228T>G (p.Ile2743Ser)
c.7133T>G (p.Ile2378Ser)
c.3317T>G (p.Ile1106Ser)
c.2870T>G (p.Ile957Ser)
c.2207T>G (p.Ile736Ser)
c.6722T>G (p.Ile2241Ser)
n.8245T>G
 dbSNP gnomAD v3 gnomAD v4
5g.13793619A>GCA359221337DNAH5c.8120T>C (p.Ile2707Thr)
c.8075T>C (p.Ile2692Thr)
n.8327T>C
c.8228T>C (p.Ile2743Thr)
c.7133T>C (p.Ile2378Thr)
c.3317T>C (p.Ile1106Thr)
c.2870T>C (p.Ile957Thr)
c.2207T>C (p.Ile736Thr)
c.6722T>C (p.Ile2241Thr)
n.8245T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13793619A>TCA359221339DNAH5c.8120T>A (p.Ile2707Asn)
c.8075T>A (p.Ile2692Asn)
n.8327T>A
c.8228T>A (p.Ile2743Asn)
c.7133T>A (p.Ile2378Asn)
c.3317T>A (p.Ile1106Asn)
c.2870T>A (p.Ile957Asn)
c.2207T>A (p.Ile736Asn)
c.6722T>A (p.Ile2241Asn)
n.8245T>A
5g.13793620T>ACA359221340DNAH5c.8119A>T (p.Ile2707Phe)
c.8074A>T (p.Ile2692Phe)
n.8326A>T
c.8227A>T (p.Ile2743Phe)
c.7132A>T (p.Ile2378Phe)
c.3316A>T (p.Ile1106Phe)
c.2869A>T (p.Ile957Phe)
c.2206A>T (p.Ile736Phe)
c.6721A>T (p.Ile2241Phe)
n.8244A>T
5g.13793620T>CCA3202894DNAH5c.8119A>G (p.Ile2707Val)
c.8074A>G (p.Ile2692Val)
n.8326A>G
c.8227A>G (p.Ile2743Val)
c.7132A>G (p.Ile2378Val)
c.3316A>G (p.Ile1106Val)
c.2869A>G (p.Ile957Val)
c.2206A>G (p.Ile736Val)
c.6721A>G (p.Ile2241Val)
n.8244A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13793620T>GCA359221341DNAH5c.8119A>C (p.Ile2707Leu)
c.8074A>C (p.Ile2692Leu)
n.8326A>C
c.8227A>C (p.Ile2743Leu)
c.7132A>C (p.Ile2378Leu)
c.3316A>C (p.Ile1106Leu)
c.2869A>C (p.Ile957Leu)
c.2206A>C (p.Ile736Leu)
c.6721A>C (p.Ile2241Leu)
n.8244A>C
5g.13793620T=CA1528441669DNAH5c.8119A= (p.Ile2707=)
c.8074A= (p.Ile2692=)
n.8326A=
c.8227A= (p.Ile2743=)
c.7132A= (p.Ile2378=)
c.3316A= (p.Ile1106=)
c.2869A= (p.Ile957=)
c.2206A= (p.Ile736=)
c.6721A= (p.Ile2241=)
n.8244A=
5g.13793621C>ACA359221342DNAH5c.8118G>T (p.Met2706Ile)
c.8073G>T (p.Met2691Ile)
n.8325G>T
c.8226G>T (p.Met2742Ile)
c.7131G>T (p.Met2377Ile)
c.3315G>T (p.Met1105Ile)
c.2868G>T (p.Met956Ile)
c.2205G>T (p.Met735Ile)
c.6720G>T (p.Met2240Ile)
n.8243G>T
5g.13793621C>GCA359221343DNAH5c.8118G>C (p.Met2706Ile)
c.8073G>C (p.Met2691Ile)
n.8325G>C
c.8226G>C (p.Met2742Ile)
c.7131G>C (p.Met2377Ile)
c.3315G>C (p.Met1105Ile)
c.2868G>C (p.Met956Ile)
c.2205G>C (p.Met735Ile)
c.6720G>C (p.Met2240Ile)
n.8243G>C
5g.13793621C>TCA359221344DNAH5c.8118G>A (p.Met2706Ile)
c.8073G>A (p.Met2691Ile)
n.8325G>A
c.8226G>A (p.Met2742Ile)
c.7131G>A (p.Met2377Ile)
c.3315G>A (p.Met1105Ile)
c.2868G>A (p.Met956Ile)
c.2205G>A (p.Met735Ile)
c.6720G>A (p.Met2240Ile)
n.8243G>A
5g.13793622A=CA1528441670DNAH5c.8117T= (p.Met2706=)
c.8072T= (p.Met2691=)
n.8324T=
c.8225T= (p.Met2742=)
c.7130T= (p.Met2377=)
c.3314T= (p.Met1105=)
c.2867T= (p.Met956=)
c.2204T= (p.Met735=)
c.6719T= (p.Met2240=)
n.8242T=
5g.13793622A>CCA359221348DNAH5c.8117T>G (p.Met2706Arg)
c.8072T>G (p.Met2691Arg)
n.8324T>G
c.8225T>G (p.Met2742Arg)
c.7130T>G (p.Met2377Arg)
c.3314T>G (p.Met1105Arg)
c.2867T>G (p.Met956Arg)
c.2204T>G (p.Met735Arg)
c.6719T>G (p.Met2240Arg)
n.8242T>G
5g.13793622A>GCA3202895DNAH5c.8117T>C (p.Met2706Thr)
c.8072T>C (p.Met2691Thr)
n.8324T>C
c.8225T>C (p.Met2742Thr)
c.7130T>C (p.Met2377Thr)
c.3314T>C (p.Met1105Thr)
c.2867T>C (p.Met956Thr)
c.2204T>C (p.Met735Thr)
c.6719T>C (p.Met2240Thr)
n.8242T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793622A>TCA359221347DNAH5c.8117T>A (p.Met2706Lys)
c.8072T>A (p.Met2691Lys)
n.8324T>A
c.8225T>A (p.Met2742Lys)
c.7130T>A (p.Met2377Lys)
c.3314T>A (p.Met1105Lys)
c.2867T>A (p.Met956Lys)
c.2204T>A (p.Met735Lys)
c.6719T>A (p.Met2240Lys)
n.8242T>A
5g.13793623T>ACA359221350DNAH5c.8116A>T (p.Met2706Leu)
c.8071A>T (p.Met2691Leu)
n.8323A>T
c.8224A>T (p.Met2742Leu)
c.7129A>T (p.Met2377Leu)
c.3313A>T (p.Met1105Leu)
c.2866A>T (p.Met956Leu)
c.2203A>T (p.Met735Leu)
c.6718A>T (p.Met2240Leu)
n.8241A>T
5g.13793623T>CCA3202896DNAH5c.8116A>G (p.Met2706Val)
c.8071A>G (p.Met2691Val)
n.8323A>G
c.8224A>G (p.Met2742Val)
c.7129A>G (p.Met2377Val)
c.3313A>G (p.Met1105Val)
c.2866A>G (p.Met956Val)
c.2203A>G (p.Met735Val)
c.6718A>G (p.Met2240Val)
n.8241A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793623T>GCA359221351DNAH5c.8116A>C (p.Met2706Leu)
c.8071A>C (p.Met2691Leu)
n.8323A>C
c.8224A>C (p.Met2742Leu)
c.7129A>C (p.Met2377Leu)
c.3313A>C (p.Met1105Leu)
c.2866A>C (p.Met956Leu)
c.2203A>C (p.Met735Leu)
c.6718A>C (p.Met2240Leu)
n.8241A>C
5g.13793623T=CA1528441671DNAH5c.8116A= (p.Met2706=)
c.8071A= (p.Met2691=)
n.8323A=
c.8224A= (p.Met2742=)
c.7129A= (p.Met2377=)
c.3313A= (p.Met1105=)
c.2866A= (p.Met956=)
c.2203A= (p.Met735=)
c.6718A= (p.Met2240=)
n.8241A=
5g.13793624G>ACA443266204DNAH5c.8115C>T (p.Ala2705=)
c.8070C>T (p.Ala2690=)
n.8322C>T
c.8223C>T (p.Ala2741=)
c.7128C>T (p.Ala2376=)
c.3312C>T (p.Ala1104=)
c.2865C>T (p.Ala955=)
c.2202C>T (p.Ala734=)
c.6717C>T (p.Ala2239=)
n.8240C>T
 gnomAD v4
5g.13793624G>CCA443266207DNAH5c.8115C>G (p.Ala2705=)
c.8070C>G (p.Ala2690=)
n.8322C>G
c.8223C>G (p.Ala2741=)
c.7128C>G (p.Ala2376=)
c.3312C>G (p.Ala1104=)
c.2865C>G (p.Ala955=)
c.2202C>G (p.Ala734=)
c.6717C>G (p.Ala2239=)
n.8240C>G
 dbSNP gnomAD v3 gnomAD v4
5g.13793624G=CA1528441672DNAH5c.8115C= (p.Ala2705=)
c.8070C= (p.Ala2690=)
n.8322C=
c.8223C= (p.Ala2741=)
c.7128C= (p.Ala2376=)
c.3312C= (p.Ala1104=)
c.2865C= (p.Ala955=)
c.2202C= (p.Ala734=)
c.6717C= (p.Ala2239=)
n.8240C=
5g.13793624G>TCA443266208DNAH5c.8115C>A (p.Ala2705=)
c.8070C>A (p.Ala2690=)
n.8322C>A
c.8223C>A (p.Ala2741=)
c.7128C>A (p.Ala2376=)
c.3312C>A (p.Ala1104=)
c.2865C>A (p.Ala955=)
c.2202C>A (p.Ala734=)
c.6717C>A (p.Ala2239=)
n.8240C>A
5g.13793625G>ACA359221353DNAH5c.8114C>T (p.Ala2705Val)
c.8069C>T (p.Ala2690Val)
n.8321C>T
c.8222C>T (p.Ala2741Val)
c.7127C>T (p.Ala2376Val)
c.3311C>T (p.Ala1104Val)
c.2864C>T (p.Ala955Val)
c.2201C>T (p.Ala734Val)
c.6716C>T (p.Ala2239Val)
n.8239C>T
 COSMIC
5g.13793625G>CCA359221355DNAH5c.8114C>G (p.Ala2705Gly)
c.8069C>G (p.Ala2690Gly)
n.8321C>G
c.8222C>G (p.Ala2741Gly)
c.7127C>G (p.Ala2376Gly)
c.3311C>G (p.Ala1104Gly)
c.2864C>G (p.Ala955Gly)
c.2201C>G (p.Ala734Gly)
c.6716C>G (p.Ala2239Gly)
n.8239C>G
5g.13793625G=CA1528441673DNAH5c.8114C= (p.Ala2705=)
c.8069C= (p.Ala2690=)
n.8321C=
c.8222C= (p.Ala2741=)
c.7127C= (p.Ala2376=)
c.3311C= (p.Ala1104=)
c.2864C= (p.Ala955=)
c.2201C= (p.Ala734=)
c.6716C= (p.Ala2239=)
n.8239C=
5g.13793625G>TCA3202897DNAH5c.8114C>A (p.Ala2705Asp)
c.8069C>A (p.Ala2690Asp)
n.8321C>A
c.8222C>A (p.Ala2741Asp)
c.7127C>A (p.Ala2376Asp)
c.3311C>A (p.Ala1104Asp)
c.2864C>A (p.Ala955Asp)
c.2201C>A (p.Ala734Asp)
c.6716C>A (p.Ala2239Asp)
n.8239C>A
 dbSNP ExAC gnomAD v2
5g.13793626C>ACA359221357DNAH5c.8113G>T (p.Ala2705Ser)
c.8068G>T (p.Ala2690Ser)
n.8320G>T
c.8221G>T (p.Ala2741Ser)
c.7126G>T (p.Ala2376Ser)
c.3310G>T (p.Ala1104Ser)
c.2863G>T (p.Ala955Ser)
c.2200G>T (p.Ala734Ser)
c.6715G>T (p.Ala2239Ser)
n.8238G>T
 gnomAD v4
5g.13793626C=CA1528441674DNAH5c.8113G= (p.Ala2705=)
c.8068G= (p.Ala2690=)
n.8320G=
c.8221G= (p.Ala2741=)
c.7126G= (p.Ala2376=)
c.3310G= (p.Ala1104=)
c.2863G= (p.Ala955=)
c.2200G= (p.Ala734=)
c.6715G= (p.Ala2239=)
n.8238G=
5g.13793626C>GCA359221359DNAH5c.8113G>C (p.Ala2705Pro)
c.8068G>C (p.Ala2690Pro)
n.8320G>C
c.8221G>C (p.Ala2741Pro)
c.7126G>C (p.Ala2376Pro)
c.3310G>C (p.Ala1104Pro)
c.2863G>C (p.Ala955Pro)
c.2200G>C (p.Ala734Pro)
c.6715G>C (p.Ala2239Pro)
n.8238G>C
5g.13793626C>TCA359221360DNAH5c.8113G>A (p.Ala2705Thr)
c.8068G>A (p.Ala2690Thr)
n.8320G>A
c.8221G>A (p.Ala2741Thr)
c.7126G>A (p.Ala2376Thr)
c.3310G>A (p.Ala1104Thr)
c.2863G>A (p.Ala955Thr)
c.2200G>A (p.Ala734Thr)
c.6715G>A (p.Ala2239Thr)
n.8238G>A
 dbSNP gnomAD v3 gnomAD v4
5g.13793627T>ACA443266225DNAH5c.8112A>T (p.Ala2704=)
c.8067A>T (p.Ala2689=)
n.8319A>T
c.8220A>T (p.Ala2740=)
c.7125A>T (p.Ala2375=)
c.3309A>T (p.Ala1103=)
c.2862A>T (p.Ala954=)
c.2199A>T (p.Ala733=)
c.6714A>T (p.Ala2238=)
n.8237A>T
5g.13793627T>CCA443266227DNAH5c.8112A>G (p.Ala2704=)
c.8067A>G (p.Ala2689=)
n.8319A>G
c.8220A>G (p.Ala2740=)
c.7125A>G (p.Ala2375=)
c.3309A>G (p.Ala1103=)
c.2862A>G (p.Ala954=)
c.2199A>G (p.Ala733=)
c.6714A>G (p.Ala2238=)
n.8237A>G
 ClinVar dbSNP gnomAD v4
5g.13793627T>GCA443266229DNAH5c.8112A>C (p.Ala2704=)
c.8067A>C (p.Ala2689=)
n.8319A>C
c.8220A>C (p.Ala2740=)
c.7125A>C (p.Ala2375=)
c.3309A>C (p.Ala1103=)
c.2862A>C (p.Ala954=)
c.2199A>C (p.Ala733=)
c.6714A>C (p.Ala2238=)
n.8237A>C
5g.13793627T=CA1528441675DNAH5c.8112A= (p.Ala2704=)
c.8067A= (p.Ala2689=)
n.8319A=
c.8220A= (p.Ala2740=)
c.7125A= (p.Ala2375=)
c.3309A= (p.Ala1103=)
c.2862A= (p.Ala954=)
c.2199A= (p.Ala733=)
c.6714A= (p.Ala2238=)
n.8237A=
5g.13793628G>ACA359221362DNAH5c.8111C>T (p.Ala2704Val)
c.8066C>T (p.Ala2689Val)
n.8318C>T
c.8219C>T (p.Ala2740Val)
c.7124C>T (p.Ala2375Val)
c.3308C>T (p.Ala1103Val)
c.2861C>T (p.Ala954Val)
c.2198C>T (p.Ala733Val)
c.6713C>T (p.Ala2238Val)
n.8236C>T
 COSMIC
5g.13793628G>CCA359221364DNAH5c.8111C>G (p.Ala2704Gly)
c.8066C>G (p.Ala2689Gly)
n.8318C>G
c.8219C>G (p.Ala2740Gly)
c.7124C>G (p.Ala2375Gly)
c.3308C>G (p.Ala1103Gly)
c.2861C>G (p.Ala954Gly)
c.2198C>G (p.Ala733Gly)
c.6713C>G (p.Ala2238Gly)
n.8236C>G
5g.13793628G>TCA359221365DNAH5c.8111C>A (p.Ala2704Glu)
c.8066C>A (p.Ala2689Glu)
n.8318C>A
c.8219C>A (p.Ala2740Glu)
c.7124C>A (p.Ala2375Glu)
c.3308C>A (p.Ala1103Glu)
c.2861C>A (p.Ala954Glu)
c.2198C>A (p.Ala733Glu)
c.6713C>A (p.Ala2238Glu)
n.8236C>A
5g.13793629C>ACA359221368DNAH5c.8110G>T (p.Ala2704Ser)
c.8065G>T (p.Ala2689Ser)
n.8317G>T
c.8218G>T (p.Ala2740Ser)
c.7123G>T (p.Ala2375Ser)
c.3307G>T (p.Ala1103Ser)
c.2860G>T (p.Ala954Ser)
c.2197G>T (p.Ala733Ser)
c.6712G>T (p.Ala2238Ser)
n.8235G>T
 gnomAD v4
5g.13793629C>GCA359221370DNAH5c.8110G>C (p.Ala2704Pro)
c.8065G>C (p.Ala2689Pro)
n.8317G>C
c.8218G>C (p.Ala2740Pro)
c.7123G>C (p.Ala2375Pro)
c.3307G>C (p.Ala1103Pro)
c.2860G>C (p.Ala954Pro)
c.2197G>C (p.Ala733Pro)
c.6712G>C (p.Ala2238Pro)
n.8235G>C
5g.13793629C>TCA359221366DNAH5c.8110G>A (p.Ala2704Thr)
c.8065G>A (p.Ala2689Thr)
n.8317G>A
c.8218G>A (p.Ala2740Thr)
c.7123G>A (p.Ala2375Thr)
c.3307G>A (p.Ala1103Thr)
c.2860G>A (p.Ala954Thr)
c.2197G>A (p.Ala733Thr)
c.6712G>A (p.Ala2238Thr)
n.8235G>A
 gnomAD v4
5g.13793630C>ACA359221372DNAH5c.8109G>T (p.Leu2703Phe)
c.8064G>T (p.Leu2688Phe)
n.8316G>T
c.8217G>T (p.Leu2739Phe)
c.7122G>T (p.Leu2374Phe)
c.3306G>T (p.Leu1102Phe)
c.2859G>T (p.Leu953Phe)
c.2196G>T (p.Leu732Phe)
c.6711G>T (p.Leu2237Phe)
n.8234G>T
5g.13793630C=CA1528441676DNAH5c.8109G= (p.Leu2703=)
c.8064G= (p.Leu2688=)
n.8316G=
c.8217G= (p.Leu2739=)
c.7122G= (p.Leu2374=)
c.3306G= (p.Leu1102=)
c.2859G= (p.Leu953=)
c.2196G= (p.Leu732=)
c.6711G= (p.Leu2237=)
n.8234G=
5g.13793630C>GCA359221371DNAH5c.8109G>C (p.Leu2703Phe)
c.8064G>C (p.Leu2688Phe)
n.8316G>C
c.8217G>C (p.Leu2739Phe)
c.7122G>C (p.Leu2374Phe)
c.3306G>C (p.Leu1102Phe)
c.2859G>C (p.Leu953Phe)
c.2196G>C (p.Leu732Phe)
c.6711G>C (p.Leu2237Phe)
n.8234G>C
5g.13793630C>TCA443266249DNAH5c.8109G>A (p.Leu2703=)
c.8064G>A (p.Leu2688=)
n.8316G>A
c.8217G>A (p.Leu2739=)
c.7122G>A (p.Leu2374=)
c.3306G>A (p.Leu1102=)
c.2859G>A (p.Leu953=)
c.2196G>A (p.Leu732=)
c.6711G>A (p.Leu2237=)
n.8234G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13793631A>CCA359221377DNAH5c.8108T>G (p.Leu2703Trp)
c.8063T>G (p.Leu2688Trp)
n.8315T>G
c.8216T>G (p.Leu2739Trp)
c.7121T>G (p.Leu2374Trp)
c.3305T>G (p.Leu1102Trp)
c.2858T>G (p.Leu953Trp)
c.2195T>G (p.Leu732Trp)
c.6710T>G (p.Leu2237Trp)
n.8233T>G
5g.13793631A>GCA359221375DNAH5c.8108T>C (p.Leu2703Ser)
c.8063T>C (p.Leu2688Ser)
n.8315T>C
c.8216T>C (p.Leu2739Ser)
c.7121T>C (p.Leu2374Ser)
c.3305T>C (p.Leu1102Ser)
c.2858T>C (p.Leu953Ser)
c.2195T>C (p.Leu732Ser)
c.6710T>C (p.Leu2237Ser)
n.8233T>C
5g.13793631A>TCA359221376DNAH5c.8108T>A (p.Leu2703Ter)
c.8063T>A (p.Leu2688Ter)
n.8315T>A
c.8216T>A (p.Leu2739Ter)
c.7121T>A (p.Leu2374Ter)
c.3305T>A (p.Leu1102Ter)
c.2858T>A (p.Leu953Ter)
c.2195T>A (p.Leu732Ter)
c.6710T>A (p.Leu2237Ter)
n.8233T>A
5g.13793635delCA2673271249DNAH5c.8108del (p.Leu2703TrpfsTer4)
c.8063del (p.Leu2688TrpfsTer4)
n.8315del
c.8216del (p.Leu2739TrpfsTer4)
c.7121del (p.Leu2374TrpfsTer4)
c.3305del (p.Leu1102TrpfsTer4)
c.2858del (p.Leu953TrpfsTer4)
c.2195del (p.Leu732TrpfsTer4)
c.6710del (p.Leu2237TrpfsTer4)
n.8233del
 gnomAD v4
5g.13793632A>CCA359221379DNAH5c.8107T>G (p.Leu2703Val)
c.8062T>G (p.Leu2688Val)
n.8314T>G
c.8215T>G (p.Leu2739Val)
c.7120T>G (p.Leu2374Val)
c.3304T>G (p.Leu1102Val)
c.2857T>G (p.Leu953Val)
c.2194T>G (p.Leu732Val)
c.6709T>G (p.Leu2237Val)
n.8232T>G
5g.13793632A>GCA443266261DNAH5c.8107T>C (p.Leu2703=)
c.8062T>C (p.Leu2688=)
n.8314T>C
c.8215T>C (p.Leu2739=)
c.7120T>C (p.Leu2374=)
c.3304T>C (p.Leu1102=)
c.2857T>C (p.Leu953=)
c.2194T>C (p.Leu732=)
c.6709T>C (p.Leu2237=)
n.8232T>C
5g.13793632A>TCA359221380DNAH5c.8107T>A (p.Leu2703Met)
c.8062T>A (p.Leu2688Met)
n.8314T>A
c.8215T>A (p.Leu2739Met)
c.7120T>A (p.Leu2374Met)
c.3304T>A (p.Leu1102Met)
c.2857T>A (p.Leu953Met)
c.2194T>A (p.Leu732Met)
c.6709T>A (p.Leu2237Met)
n.8232T>A
5g.13793633A>CCA359221381DNAH5c.8106T>G (p.Phe2702Leu)
c.8061T>G (p.Phe2687Leu)
n.8313T>G
c.8214T>G (p.Phe2738Leu)
c.7119T>G (p.Phe2373Leu)
c.3303T>G (p.Phe1101Leu)
c.2856T>G (p.Phe952Leu)
c.2193T>G (p.Phe731Leu)
c.6708T>G (p.Phe2236Leu)
n.8231T>G
5g.13793633A>GCA443266268DNAH5c.8106T>C (p.Phe2702=)
c.8061T>C (p.Phe2687=)
n.8313T>C
c.8214T>C (p.Phe2738=)
c.7119T>C (p.Phe2373=)
c.3303T>C (p.Phe1101=)
c.2856T>C (p.Phe952=)
c.2193T>C (p.Phe731=)
c.6708T>C (p.Phe2236=)
n.8231T>C
5g.13793633A>TCA359221383DNAH5c.8106T>A (p.Phe2702Leu)
c.8061T>A (p.Phe2687Leu)
n.8313T>A
c.8214T>A (p.Phe2738Leu)
c.7119T>A (p.Phe2373Leu)
c.3303T>A (p.Phe1101Leu)
c.2856T>A (p.Phe952Leu)
c.2193T>A (p.Phe731Leu)
c.6708T>A (p.Phe2236Leu)
n.8231T>A
5g.13793634A>CCA359221388DNAH5c.8105T>G (p.Phe2702Cys)
c.8060T>G (p.Phe2687Cys)
n.8312T>G
c.8213T>G (p.Phe2738Cys)
c.7118T>G (p.Phe2373Cys)
c.3302T>G (p.Phe1101Cys)
c.2855T>G (p.Phe952Cys)
c.2192T>G (p.Phe731Cys)
c.6707T>G (p.Phe2236Cys)
n.8230T>G
5g.13793634A>GCA359221385DNAH5c.8105T>C (p.Phe2702Ser)
c.8060T>C (p.Phe2687Ser)
n.8312T>C
c.8213T>C (p.Phe2738Ser)
c.7118T>C (p.Phe2373Ser)
c.3302T>C (p.Phe1101Ser)
c.2855T>C (p.Phe952Ser)
c.2192T>C (p.Phe731Ser)
c.6707T>C (p.Phe2236Ser)
n.8230T>C
5g.13793634A>TCA359221386DNAH5c.8105T>A (p.Phe2702Tyr)
c.8060T>A (p.Phe2687Tyr)
n.8312T>A
c.8213T>A (p.Phe2738Tyr)
c.7118T>A (p.Phe2373Tyr)
c.3302T>A (p.Phe1101Tyr)
c.2855T>A (p.Phe952Tyr)
c.2192T>A (p.Phe731Tyr)
c.6707T>A (p.Phe2236Tyr)
n.8230T>A
5g.13793635A=CA1528441677DNAH5c.8104T= (p.Phe2702=)
c.8059T= (p.Phe2687=)
n.8311T=
c.8212T= (p.Phe2738=)
c.7117T= (p.Phe2373=)
c.3301T= (p.Phe1101=)
c.2854T= (p.Phe952=)
c.2191T= (p.Phe731=)
c.6706T= (p.Phe2236=)
n.8229T=
5g.13793635A>CCA359221389DNAH5c.8104T>G (p.Phe2702Val)
c.8059T>G (p.Phe2687Val)
n.8311T>G
c.8212T>G (p.Phe2738Val)
c.7117T>G (p.Phe2373Val)
c.3301T>G (p.Phe1101Val)
c.2854T>G (p.Phe952Val)
c.2191T>G (p.Phe731Val)
c.6706T>G (p.Phe2236Val)
n.8229T>G
5g.13793635A>GCA359221390DNAH5c.8104T>C (p.Phe2702Leu)
c.8059T>C (p.Phe2687Leu)
n.8311T>C
c.8212T>C (p.Phe2738Leu)
c.7117T>C (p.Phe2373Leu)
c.3301T>C (p.Phe1101Leu)
c.2854T>C (p.Phe952Leu)
c.2191T>C (p.Phe731Leu)
c.6706T>C (p.Phe2236Leu)
n.8229T>C
 dbSNP
5g.13793635A>TCA359221391DNAH5c.8104T>A (p.Phe2702Ile)
c.8059T>A (p.Phe2687Ile)
n.8311T>A
c.8212T>A (p.Phe2738Ile)
c.7117T>A (p.Phe2373Ile)
c.3301T>A (p.Phe1101Ile)
c.2854T>A (p.Phe952Ile)
c.2191T>A (p.Phe731Ile)
c.6706T>A (p.Phe2236Ile)
n.8229T>A
5g.13793636C>ACA359221392DNAH5c.8103G>T (p.Gln2701His)
c.8058G>T (p.Gln2686His)
n.8310G>T
c.8211G>T (p.Gln2737His)
c.7116G>T (p.Gln2372His)
c.3300G>T (p.Gln1100His)
c.2853G>T (p.Gln951His)
c.2190G>T (p.Gln730His)
c.6705G>T (p.Gln2235His)
n.8228G>T
5g.13793636C>GCA359221393DNAH5c.8103G>C (p.Gln2701His)
c.8058G>C (p.Gln2686His)
n.8310G>C
c.8211G>C (p.Gln2737His)
c.7116G>C (p.Gln2372His)
c.3300G>C (p.Gln1100His)
c.2853G>C (p.Gln951His)
c.2190G>C (p.Gln730His)
c.6705G>C (p.Gln2235His)
n.8228G>C
5g.13793636C>TCA443266285DNAH5c.8103G>A (p.Gln2701=)
c.8058G>A (p.Gln2686=)
n.8310G>A
c.8211G>A (p.Gln2737=)
c.7116G>A (p.Gln2372=)
c.3300G>A (p.Gln1100=)
c.2853G>A (p.Gln951=)
c.2190G>A (p.Gln730=)
c.6705G>A (p.Gln2235=)
n.8228G>A
5g.13793637T>ACA359221395DNAH5c.8102A>T (p.Gln2701Leu)
c.8057A>T (p.Gln2686Leu)
n.8309A>T
c.8210A>T (p.Gln2737Leu)
c.7115A>T (p.Gln2372Leu)
c.3299A>T (p.Gln1100Leu)
c.2852A>T (p.Gln951Leu)
c.2189A>T (p.Gln730Leu)
c.6704A>T (p.Gln2235Leu)
n.8227A>T
5g.13793637T>CCA113961868DNAH5c.8102A>G (p.Gln2701Arg)
c.8057A>G (p.Gln2686Arg)
n.8309A>G
c.8210A>G (p.Gln2737Arg)
c.7115A>G (p.Gln2372Arg)
c.3299A>G (p.Gln1100Arg)
c.2852A>G (p.Gln951Arg)
c.2189A>G (p.Gln730Arg)
c.6704A>G (p.Gln2235Arg)
n.8227A>G
 dbSNP gnomAD v4
5g.13793637T>GCA359221394DNAH5c.8102A>C (p.Gln2701Pro)
c.8057A>C (p.Gln2686Pro)
n.8309A>C
c.8210A>C (p.Gln2737Pro)
c.7115A>C (p.Gln2372Pro)
c.3299A>C (p.Gln1100Pro)
c.2852A>C (p.Gln951Pro)
c.2189A>C (p.Gln730Pro)
c.6704A>C (p.Gln2235Pro)
n.8227A>C
5g.13793637T=CA1528441678DNAH5c.8102A= (p.Gln2701=)
c.8057A= (p.Gln2686=)
n.8309A=
c.8210A= (p.Gln2737=)
c.7115A= (p.Gln2372=)
c.3299A= (p.Gln1100=)
c.2852A= (p.Gln951=)
c.2189A= (p.Gln730=)
c.6704A= (p.Gln2235=)
n.8227A=
5g.13793638G>ACA359221396DNAH5c.8101C>T (p.Gln2701Ter)
c.8056C>T (p.Gln2686Ter)
n.8308C>T
c.8209C>T (p.Gln2737Ter)
c.7114C>T (p.Gln2372Ter)
c.3298C>T (p.Gln1100Ter)
c.2851C>T (p.Gln951Ter)
c.2188C>T (p.Gln730Ter)
c.6703C>T (p.Gln2235Ter)
n.8226C>T
 gnomAD v4
5g.13793638G>CCA359221397DNAH5c.8101C>G (p.Gln2701Glu)
c.8056C>G (p.Gln2686Glu)
n.8308C>G
c.8209C>G (p.Gln2737Glu)
c.7114C>G (p.Gln2372Glu)
c.3298C>G (p.Gln1100Glu)
c.2851C>G (p.Gln951Glu)
c.2188C>G (p.Gln730Glu)
c.6703C>G (p.Gln2235Glu)
n.8226C>G
5g.13793638G>TCA359221398DNAH5c.8101C>A (p.Gln2701Lys)
c.8056C>A (p.Gln2686Lys)
n.8308C>A
c.8209C>A (p.Gln2737Lys)
c.7114C>A (p.Gln2372Lys)
c.3298C>A (p.Gln1100Lys)
c.2851C>A (p.Gln951Lys)
c.2188C>A (p.Gln730Lys)
c.6703C>A (p.Gln2235Lys)
n.8226C>A
5g.13793639G>ACA443266307DNAH5c.8100C>T (p.Ile2700=)
c.8055C>T (p.Ile2685=)
n.8307C>T
c.8208C>T (p.Ile2736=)
c.7113C>T (p.Ile2371=)
c.3297C>T (p.Ile1099=)
c.2850C>T (p.Ile950=)
c.2187C>T (p.Ile729=)
c.6702C>T (p.Ile2234=)
n.8225C>T
5g.13793639G>CCA359221399DNAH5c.8100C>G (p.Ile2700Met)
c.8055C>G (p.Ile2685Met)
n.8307C>G
c.8208C>G (p.Ile2736Met)
c.7113C>G (p.Ile2371Met)
c.3297C>G (p.Ile1099Met)
c.2850C>G (p.Ile950Met)
c.2187C>G (p.Ile729Met)
c.6702C>G (p.Ile2234Met)
n.8225C>G
5g.13793639G>TCA443266304DNAH5c.8100C>A (p.Ile2700=)
c.8055C>A (p.Ile2685=)
n.8307C>A
c.8208C>A (p.Ile2736=)
c.7113C>A (p.Ile2371=)
c.3297C>A (p.Ile1099=)
c.2850C>A (p.Ile950=)
c.2187C>A (p.Ile729=)
c.6702C>A (p.Ile2234=)
n.8225C>A
5g.13793640A=CA1528441679DNAH5c.8099T= (p.Ile2700=)
c.8054T= (p.Ile2685=)
n.8306T=
c.8207T= (p.Ile2736=)
c.7112T= (p.Ile2371=)
c.3296T= (p.Ile1099=)
c.2849T= (p.Ile950=)
c.2186T= (p.Ile729=)
c.6701T= (p.Ile2234=)
n.8224T=
5g.13793640A>CCA359221400DNAH5c.8099T>G (p.Ile2700Ser)
c.8054T>G (p.Ile2685Ser)
n.8306T>G
c.8207T>G (p.Ile2736Ser)
c.7112T>G (p.Ile2371Ser)
c.3296T>G (p.Ile1099Ser)
c.2849T>G (p.Ile950Ser)
c.2186T>G (p.Ile729Ser)
c.6701T>G (p.Ile2234Ser)
n.8224T>G
5g.13793640A>GCA3202898DNAH5c.8099T>C (p.Ile2700Thr)
c.8054T>C (p.Ile2685Thr)
n.8306T>C
c.8207T>C (p.Ile2736Thr)
c.7112T>C (p.Ile2371Thr)
c.3296T>C (p.Ile1099Thr)
c.2849T>C (p.Ile950Thr)
c.2186T>C (p.Ile729Thr)
c.6701T>C (p.Ile2234Thr)
n.8224T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793640A>TCA359221401DNAH5c.8099T>A (p.Ile2700Asn)
c.8054T>A (p.Ile2685Asn)
n.8306T>A
c.8207T>A (p.Ile2736Asn)
c.7112T>A (p.Ile2371Asn)
c.3296T>A (p.Ile1099Asn)
c.2849T>A (p.Ile950Asn)
c.2186T>A (p.Ile729Asn)
c.6701T>A (p.Ile2234Asn)
n.8224T>A
5g.13793641T>ACA359221402DNAH5c.8098A>T (p.Ile2700Phe)
c.8053A>T (p.Ile2685Phe)
n.8305A>T
c.8206A>T (p.Ile2736Phe)
c.7111A>T (p.Ile2371Phe)
c.3295A>T (p.Ile1099Phe)
c.2848A>T (p.Ile950Phe)
c.2185A>T (p.Ile729Phe)
c.6700A>T (p.Ile2234Phe)
n.8223A>T
5g.13793641T>CCA359221403DNAH5c.8098A>G (p.Ile2700Val)
c.8053A>G (p.Ile2685Val)
n.8305A>G
c.8206A>G (p.Ile2736Val)
c.7111A>G (p.Ile2371Val)
c.3295A>G (p.Ile1099Val)
c.2848A>G (p.Ile950Val)
c.2185A>G (p.Ile729Val)
c.6700A>G (p.Ile2234Val)
n.8223A>G
5g.13793641T>GCA359221404DNAH5c.8098A>C (p.Ile2700Leu)
c.8053A>C (p.Ile2685Leu)
n.8305A>C
c.8206A>C (p.Ile2736Leu)
c.7111A>C (p.Ile2371Leu)
c.3295A>C (p.Ile1099Leu)
c.2848A>C (p.Ile950Leu)
c.2185A>C (p.Ile729Leu)
c.6700A>C (p.Ile2234Leu)
n.8223A>C
 gnomAD v4
5g.13793641_13793647delinsTGTCCACCA1528441680DNAH5c.8092_8098delinsGTGGACA (p.Val2698=)
c.8047_8053delinsGTGGACA (p.Val2683=)
n.8299_8305delinsGTGGACA
c.8200_8206delinsGTGGACA (p.Val2734=)
c.7105_7111delinsGTGGACA (p.Val2369=)
c.3289_3295delinsGTGGACA (p.Val1097=)
c.2842_2848delinsGTGGACA (p.Val948=)
c.2179_2185delinsGTGGACA (p.Val727=)
c.6694_6700delinsGTGGACA (p.Val2232=)
n.8217_8223delinsGTGGACA
5g.13793642G>ACA443266320DNAH5c.8097C>T (p.Asp2699=)
c.8052C>T (p.Asp2684=)
n.8304C>T
c.8205C>T (p.Asp2735=)
c.7110C>T (p.Asp2370=)
c.3294C>T (p.Asp1098=)
c.2847C>T (p.Asp949=)
c.2184C>T (p.Asp728=)
c.6699C>T (p.Asp2233=)
n.8222C>T
 ClinVar
5g.13793642G>CCA359221405DNAH5c.8097C>G (p.Asp2699Glu)
c.8052C>G (p.Asp2684Glu)
n.8304C>G
c.8205C>G (p.Asp2735Glu)
c.7110C>G (p.Asp2370Glu)
c.3294C>G (p.Asp1098Glu)
c.2847C>G (p.Asp949Glu)
c.2184C>G (p.Asp728Glu)
c.6699C>G (p.Asp2233Glu)
n.8222C>G
5g.13793642G>TCA359221406DNAH5c.8097C>A (p.Asp2699Glu)
c.8052C>A (p.Asp2684Glu)
n.8304C>A
c.8205C>A (p.Asp2735Glu)
c.7110C>A (p.Asp2370Glu)
c.3294C>A (p.Asp1098Glu)
c.2847C>A (p.Asp949Glu)
c.2184C>A (p.Asp728Glu)
c.6699C>A (p.Asp2233Glu)
n.8222C>A
5g.13793643_13793648delCA1528441681DNAH5c.8092_8097del (p.Val2698_Asp2699del)
c.8047_8052del (p.Val2683_Asp2684del)
n.8299_8304del
c.8200_8205del (p.Val2734_Asp2735del)
c.7105_7110del (p.Val2369_Asp2370del)
c.3289_3294del (p.Val1097_Asp1098del)
c.2842_2847del (p.Val948_Asp949del)
c.2179_2184del (p.Val727_Asp728del)
c.6694_6699del (p.Val2232_Asp2233del)
n.8217_8222del
 ClinVar dbSNP gnomAD v4
5g.13793643T>ACA359221407DNAH5c.8096A>T (p.Asp2699Val)
c.8051A>T (p.Asp2684Val)
n.8303A>T
c.8204A>T (p.Asp2735Val)
c.7109A>T (p.Asp2370Val)
c.3293A>T (p.Asp1098Val)
c.2846A>T (p.Asp949Val)
c.2183A>T (p.Asp728Val)
c.6698A>T (p.Asp2233Val)
n.8221A>T
5g.13793643T>CCA359221409DNAH5c.8096A>G (p.Asp2699Gly)
c.8051A>G (p.Asp2684Gly)
n.8303A>G
c.8204A>G (p.Asp2735Gly)
c.7109A>G (p.Asp2370Gly)
c.3293A>G (p.Asp1098Gly)
c.2846A>G (p.Asp949Gly)
c.2183A>G (p.Asp728Gly)
c.6698A>G (p.Asp2233Gly)
n.8221A>G
5g.13793643T>GCA359221408DNAH5c.8096A>C (p.Asp2699Ala)
c.8051A>C (p.Asp2684Ala)
n.8303A>C
c.8204A>C (p.Asp2735Ala)
c.7109A>C (p.Asp2370Ala)
c.3293A>C (p.Asp1098Ala)
c.2846A>C (p.Asp949Ala)
c.2183A>C (p.Asp728Ala)
c.6698A>C (p.Asp2233Ala)
n.8221A>C
5g.13793644C>ACA113961877DNAH5c.8095G>T (p.Asp2699Tyr)
c.8050G>T (p.Asp2684Tyr)
n.8302G>T
c.8203G>T (p.Asp2735Tyr)
c.7108G>T (p.Asp2370Tyr)
c.3292G>T (p.Asp1098Tyr)
c.2845G>T (p.Asp949Tyr)
c.2182G>T (p.Asp728Tyr)
c.6697G>T (p.Asp2233Tyr)
n.8220G>T
 dbSNP
5g.13793644C=CA1528441682DNAH5c.8095G= (p.Asp2699=)
c.8050G= (p.Asp2684=)
n.8302G=
c.8203G= (p.Asp2735=)
c.7108G= (p.Asp2370=)
c.3292G= (p.Asp1098=)
c.2845G= (p.Asp949=)
c.2182G= (p.Asp728=)
c.6697G= (p.Asp2233=)
n.8220G=
5g.13793644C>GCA359221410DNAH5c.8095G>C (p.Asp2699His)
c.8050G>C (p.Asp2684His)
n.8302G>C
c.8203G>C (p.Asp2735His)
c.7108G>C (p.Asp2370His)
c.3292G>C (p.Asp1098His)
c.2845G>C (p.Asp949His)
c.2182G>C (p.Asp728His)
c.6697G>C (p.Asp2233His)
n.8220G>C
5g.13793644C>TCA359221411DNAH5c.8095G>A (p.Asp2699Asn)
c.8050G>A (p.Asp2684Asn)
n.8302G>A
c.8203G>A (p.Asp2735Asn)
c.7108G>A (p.Asp2370Asn)
c.3292G>A (p.Asp1098Asn)
c.2845G>A (p.Asp949Asn)
c.2182G>A (p.Asp728Asn)
c.6697G>A (p.Asp2233Asn)
n.8220G>A
 COSMIC
5g.13793644_13793646delinsCCACA1528441683DNAH5c.8093_8095delinsTGG (p.Val2698=)
c.8048_8050delinsTGG (p.Val2683=)
n.8300_8302delinsTGG
c.8201_8203delinsTGG (p.Val2734=)
c.7106_7108delinsTGG (p.Val2369=)
c.3290_3292delinsTGG (p.Val1097=)
c.2843_2845delinsTGG (p.Val948=)
c.2180_2182delinsTGG (p.Val727=)
c.6695_6697delinsTGG (p.Val2232=)
n.8218_8220delinsTGG
5g.13793645C>ACA443266340DNAH5c.8094G>T (p.Val2698=)
c.8049G>T (p.Val2683=)
n.8301G>T
c.8202G>T (p.Val2734=)
c.7107G>T (p.Val2369=)
c.3291G>T (p.Val1097=)
c.2844G>T (p.Val948=)
c.2181G>T (p.Val727=)
c.6696G>T (p.Val2232=)
n.8219G>T
5g.13793645C=CA1528441684DNAH5c.8094G= (p.Val2698=)
c.8049G= (p.Val2683=)
n.8301G=
c.8202G= (p.Val2734=)
c.7107G= (p.Val2369=)
c.3291G= (p.Val1097=)
c.2844G= (p.Val948=)
c.2181G= (p.Val727=)
c.6696G= (p.Val2232=)
n.8219G=
5g.13793645C>GCA443266341DNAH5c.8094G>C (p.Val2698=)
c.8049G>C (p.Val2683=)
n.8301G>C
c.8202G>C (p.Val2734=)
c.7107G>C (p.Val2369=)
c.3291G>C (p.Val1097=)
c.2844G>C (p.Val948=)
c.2181G>C (p.Val727=)
c.6696G>C (p.Val2232=)
n.8219G>C
 ClinVar dbSNP COSMIC
5g.13793645C>TCA443266344DNAH5c.8094G>A (p.Val2698=)
c.8049G>A (p.Val2683=)
n.8301G>A
c.8202G>A (p.Val2734=)
c.7107G>A (p.Val2369=)
c.3291G>A (p.Val1097=)
c.2844G>A (p.Val948=)
c.2181G>A (p.Val727=)
c.6696G>A (p.Val2232=)
n.8219G>A
5g.13793646_13793647delCA1528441685DNAH5c.8093_8094del (p.Val2698GlyfsTer17)
c.8048_8049del (p.Val2683GlyfsTer17)
n.8300_8301del
c.8201_8202del (p.Val2734GlyfsTer17)
c.7106_7107del (p.Val2369GlyfsTer17)
c.3290_3291del (p.Val1097GlyfsTer17)
c.2843_2844del (p.Val948GlyfsTer17)
c.2180_2181del (p.Val727GlyfsTer17)
c.6695_6696del (p.Val2232GlyfsTer17)
n.8218_8219del
 dbSNP
5g.13793646A>CCA359221412DNAH5c.8093T>G (p.Val2698Gly)
c.8048T>G (p.Val2683Gly)
n.8300T>G
c.8201T>G (p.Val2734Gly)
c.7106T>G (p.Val2369Gly)
c.3290T>G (p.Val1097Gly)
c.2843T>G (p.Val948Gly)
c.2180T>G (p.Val727Gly)
c.6695T>G (p.Val2232Gly)
n.8218T>G
5g.13793646A>GCA359221413DNAH5c.8093T>C (p.Val2698Ala)
c.8048T>C (p.Val2683Ala)
n.8300T>C
c.8201T>C (p.Val2734Ala)
c.7106T>C (p.Val2369Ala)
c.3290T>C (p.Val1097Ala)
c.2843T>C (p.Val948Ala)
c.2180T>C (p.Val727Ala)
c.6695T>C (p.Val2232Ala)
n.8218T>C
5g.13793646A>TCA359221414DNAH5c.8093T>A (p.Val2698Glu)
c.8048T>A (p.Val2683Glu)
n.8300T>A
c.8201T>A (p.Val2734Glu)
c.7106T>A (p.Val2369Glu)
c.3290T>A (p.Val1097Glu)
c.2843T>A (p.Val948Glu)
c.2180T>A (p.Val727Glu)
c.6695T>A (p.Val2232Glu)
n.8218T>A
5g.13793647C>ACA359221415DNAH5c.8092G>T (p.Val2698Leu)
c.8047G>T (p.Val2683Leu)
n.8299G>T
c.8200G>T (p.Val2734Leu)
c.7105G>T (p.Val2369Leu)
c.3289G>T (p.Val1097Leu)
c.2842G>T (p.Val948Leu)
c.2179G>T (p.Val727Leu)
c.6694G>T (p.Val2232Leu)
n.8217G>T
 dbSNP gnomAD v4
5g.13793647C=CA1528441686DNAH5c.8092G= (p.Val2698=)
c.8047G= (p.Val2683=)
n.8299G=
c.8200G= (p.Val2734=)
c.7105G= (p.Val2369=)
c.3289G= (p.Val1097=)
c.2842G= (p.Val948=)
c.2179G= (p.Val727=)
c.6694G= (p.Val2232=)
n.8217G=
5g.13793647C>GCA359221416DNAH5c.8092G>C (p.Val2698Leu)
c.8047G>C (p.Val2683Leu)
n.8299G>C
c.8200G>C (p.Val2734Leu)
c.7105G>C (p.Val2369Leu)
c.3289G>C (p.Val1097Leu)
c.2842G>C (p.Val948Leu)
c.2179G>C (p.Val727Leu)
c.6694G>C (p.Val2232Leu)
n.8217G>C
5g.13793647C>TCA3202899DNAH5c.8092G>A (p.Val2698Met)
c.8047G>A (p.Val2683Met)
n.8299G>A
c.8200G>A (p.Val2734Met)
c.7105G>A (p.Val2369Met)
c.3289G>A (p.Val1097Met)
c.2842G>A (p.Val948Met)
c.2179G>A (p.Val727Met)
c.6694G>A (p.Val2232Met)
n.8217G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13793648G>ACA3202900DNAH5c.8091C>T (p.Ile2697=)
c.8046C>T (p.Ile2682=)
n.8298C>T
c.8199C>T (p.Ile2733=)
c.7104C>T (p.Ile2368=)
c.3288C>T (p.Ile1096=)
c.2841C>T (p.Ile947=)
c.2178C>T (p.Ile726=)
c.6693C>T (p.Ile2231=)
n.8216C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13793648G>CCA359221417DNAH5c.8091C>G (p.Ile2697Met)
c.8046C>G (p.Ile2682Met)
n.8298C>G
c.8199C>G (p.Ile2733Met)
c.7104C>G (p.Ile2368Met)
c.3288C>G (p.Ile1096Met)
c.2841C>G (p.Ile947Met)
c.2178C>G (p.Ile726Met)
c.6693C>G (p.Ile2231Met)
n.8216C>G
5g.13793648G=CA1528441687DNAH5c.8091C= (p.Ile2697=)
c.8046C= (p.Ile2682=)
n.8298C=
c.8199C= (p.Ile2733=)
c.7104C= (p.Ile2368=)
c.3288C= (p.Ile1096=)
c.2841C= (p.Ile947=)
c.2178C= (p.Ile726=)
c.6693C= (p.Ile2231=)
n.8216C=
5g.13793648G>TCA443266361DNAH5c.8091C>A (p.Ile2697=)
c.8046C>A (p.Ile2682=)
n.8298C>A
c.8199C>A (p.Ile2733=)
c.7104C>A (p.Ile2368=)
c.3288C>A (p.Ile1096=)
c.2841C>A (p.Ile947=)
c.2178C>A (p.Ile726=)
c.6693C>A (p.Ile2231=)
n.8216C>A

Number of alleles fetched