Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13780861A=CA1528435858DNAH5c.8919T= (p.Ala2973=)
c.8874T= (p.Ala2958=)
n.9028-3506T=
c.9027T= (p.Ala3009=)
c.7932T= (p.Ala2644=)
c.4116T= (p.Ala1372=)
c.3669T= (p.Ala1223=)
c.3006T= (p.Ala1002=)
c.7521T= (p.Ala2507=)
n.8946-3506T=
5g.13780861A>CCA443259081DNAH5c.8919T>G (p.Ala2973=)
c.8874T>G (p.Ala2958=)
n.9028-3506T>G
c.9027T>G (p.Ala3009=)
c.7932T>G (p.Ala2644=)
c.4116T>G (p.Ala1372=)
c.3669T>G (p.Ala1223=)
c.3006T>G (p.Ala1002=)
c.7521T>G (p.Ala2507=)
n.8946-3506T>G
5g.13780861A>GCA443259084DNAH5c.8919T>C (p.Ala2973=)
c.8874T>C (p.Ala2958=)
n.9028-3506T>C
c.9027T>C (p.Ala3009=)
c.7932T>C (p.Ala2644=)
c.4116T>C (p.Ala1372=)
c.3669T>C (p.Ala1223=)
c.3006T>C (p.Ala1002=)
c.7521T>C (p.Ala2507=)
n.8946-3506T>C
 dbSNP gnomAD v3 gnomAD v4
5g.13780861A>TCA443259087DNAH5c.8919T>A (p.Ala2973=)
c.8874T>A (p.Ala2958=)
n.9028-3506T>A
c.9027T>A (p.Ala3009=)
c.7932T>A (p.Ala2644=)
c.4116T>A (p.Ala1372=)
c.3669T>A (p.Ala1223=)
c.3006T>A (p.Ala1002=)
c.7521T>A (p.Ala2507=)
n.8946-3506T>A
5g.13780862G>ACA359212672DNAH5c.8918C>T (p.Ala2973Val)
c.8873C>T (p.Ala2958Val)
n.9028-3507C>T
c.9026C>T (p.Ala3009Val)
c.7931C>T (p.Ala2644Val)
c.4115C>T (p.Ala1372Val)
c.3668C>T (p.Ala1223Val)
c.3005C>T (p.Ala1002Val)
c.7520C>T (p.Ala2507Val)
n.8946-3507C>T
5g.13780862G>CCA359212673DNAH5c.8918C>G (p.Ala2973Gly)
c.8873C>G (p.Ala2958Gly)
n.9028-3507C>G
c.9026C>G (p.Ala3009Gly)
c.7931C>G (p.Ala2644Gly)
c.4115C>G (p.Ala1372Gly)
c.3668C>G (p.Ala1223Gly)
c.3005C>G (p.Ala1002Gly)
c.7520C>G (p.Ala2507Gly)
n.8946-3507C>G
5g.13780862G>TCA359212674DNAH5c.8918C>A (p.Ala2973Asp)
c.8873C>A (p.Ala2958Asp)
n.9028-3507C>A
c.9026C>A (p.Ala3009Asp)
c.7931C>A (p.Ala2644Asp)
c.4115C>A (p.Ala1372Asp)
c.3668C>A (p.Ala1223Asp)
c.3005C>A (p.Ala1002Asp)
c.7520C>A (p.Ala2507Asp)
n.8946-3507C>A
5g.13780863C>ACA359212675DNAH5c.8917G>T (p.Ala2973Ser)
c.8872G>T (p.Ala2958Ser)
n.9028-3508G>T
c.9025G>T (p.Ala3009Ser)
c.7930G>T (p.Ala2644Ser)
c.4114G>T (p.Ala1372Ser)
c.3667G>T (p.Ala1223Ser)
c.3004G>T (p.Ala1002Ser)
c.7519G>T (p.Ala2507Ser)
n.8946-3508G>T
5g.13780863C>GCA359212677DNAH5c.8917G>C (p.Ala2973Pro)
c.8872G>C (p.Ala2958Pro)
n.9028-3508G>C
c.9025G>C (p.Ala3009Pro)
c.7930G>C (p.Ala2644Pro)
c.4114G>C (p.Ala1372Pro)
c.3667G>C (p.Ala1223Pro)
c.3004G>C (p.Ala1002Pro)
c.7519G>C (p.Ala2507Pro)
n.8946-3508G>C
5g.13780863C>TCA359212679DNAH5c.8917G>A (p.Ala2973Thr)
c.8872G>A (p.Ala2958Thr)
n.9028-3508G>A
c.9025G>A (p.Ala3009Thr)
c.7930G>A (p.Ala2644Thr)
c.4114G>A (p.Ala1372Thr)
c.3667G>A (p.Ala1223Thr)
c.3004G>A (p.Ala1002Thr)
c.7519G>A (p.Ala2507Thr)
n.8946-3508G>A
5g.13780864A>CCA359212681DNAH5c.8916T>G (p.Ile2972Met)
c.8871T>G (p.Ile2957Met)
n.9028-3509T>G
c.9024T>G (p.Ile3008Met)
c.7929T>G (p.Ile2643Met)
c.4113T>G (p.Ile1371Met)
c.3666T>G (p.Ile1222Met)
c.3003T>G (p.Ile1001Met)
c.7518T>G (p.Ile2506Met)
n.8946-3509T>G
5g.13780864A>GCA443259103DNAH5c.8916T>C (p.Ile2972=)
c.8871T>C (p.Ile2957=)
n.9028-3509T>C
c.9024T>C (p.Ile3008=)
c.7929T>C (p.Ile2643=)
c.4113T>C (p.Ile1371=)
c.3666T>C (p.Ile1222=)
c.3003T>C (p.Ile1001=)
c.7518T>C (p.Ile2506=)
n.8946-3509T>C
5g.13780864A>TCA443259107DNAH5c.8916T>A (p.Ile2972=)
c.8871T>A (p.Ile2957=)
n.9028-3509T>A
c.9024T>A (p.Ile3008=)
c.7929T>A (p.Ile2643=)
c.4113T>A (p.Ile1371=)
c.3666T>A (p.Ile1222=)
c.3003T>A (p.Ile1001=)
c.7518T>A (p.Ile2506=)
n.8946-3509T>A
5g.13780865A=CA1528435859DNAH5c.8915T= (p.Ile2972=)
c.8870T= (p.Ile2957=)
n.9028-3510T=
c.9023T= (p.Ile3008=)
c.7928T= (p.Ile2643=)
c.4112T= (p.Ile1371=)
c.3665T= (p.Ile1222=)
c.3002T= (p.Ile1001=)
c.7517T= (p.Ile2506=)
n.8946-3510T=
5g.13780865A>CCA359212682DNAH5c.8915T>G (p.Ile2972Ser)
c.8870T>G (p.Ile2957Ser)
n.9028-3510T>G
c.9023T>G (p.Ile3008Ser)
c.7928T>G (p.Ile2643Ser)
c.4112T>G (p.Ile1371Ser)
c.3665T>G (p.Ile1222Ser)
c.3002T>G (p.Ile1001Ser)
c.7517T>G (p.Ile2506Ser)
n.8946-3510T>G
5g.13780865A>GCA359212685DNAH5c.8915T>C (p.Ile2972Thr)
c.8870T>C (p.Ile2957Thr)
n.9028-3510T>C
c.9023T>C (p.Ile3008Thr)
c.7928T>C (p.Ile2643Thr)
c.4112T>C (p.Ile1371Thr)
c.3665T>C (p.Ile1222Thr)
c.3002T>C (p.Ile1001Thr)
c.7517T>C (p.Ile2506Thr)
n.8946-3510T>C
 dbSNP gnomAD v2 gnomAD v4
5g.13780865A>TCA359212683DNAH5c.8915T>A (p.Ile2972Asn)
c.8870T>A (p.Ile2957Asn)
n.9028-3510T>A
c.9023T>A (p.Ile3008Asn)
c.7928T>A (p.Ile2643Asn)
c.4112T>A (p.Ile1371Asn)
c.3665T>A (p.Ile1222Asn)
c.3002T>A (p.Ile1001Asn)
c.7517T>A (p.Ile2506Asn)
n.8946-3510T>A
5g.13780866T>ACA359212687DNAH5c.8914A>T (p.Ile2972Phe)
c.8869A>T (p.Ile2957Phe)
n.9028-3511A>T
c.9022A>T (p.Ile3008Phe)
c.7927A>T (p.Ile2643Phe)
c.4111A>T (p.Ile1371Phe)
c.3664A>T (p.Ile1222Phe)
c.3001A>T (p.Ile1001Phe)
c.7516A>T (p.Ile2506Phe)
n.8946-3511A>T
5g.13780866T>CCA359212688DNAH5c.8914A>G (p.Ile2972Val)
c.8869A>G (p.Ile2957Val)
n.9028-3511A>G
c.9022A>G (p.Ile3008Val)
c.7927A>G (p.Ile2643Val)
c.4111A>G (p.Ile1371Val)
c.3664A>G (p.Ile1222Val)
c.3001A>G (p.Ile1001Val)
c.7516A>G (p.Ile2506Val)
n.8946-3511A>G
 dbSNP gnomAD v2 gnomAD v4
5g.13780866T>GCA359212690DNAH5c.8914A>C (p.Ile2972Leu)
c.8869A>C (p.Ile2957Leu)
n.9028-3511A>C
c.9022A>C (p.Ile3008Leu)
c.7927A>C (p.Ile2643Leu)
c.4111A>C (p.Ile1371Leu)
c.3664A>C (p.Ile1222Leu)
c.3001A>C (p.Ile1001Leu)
c.7516A>C (p.Ile2506Leu)
n.8946-3511A>C
5g.13780866T=CA1528435860DNAH5c.8914A= (p.Ile2972=)
c.8869A= (p.Ile2957=)
n.9028-3511A=
c.9022A= (p.Ile3008=)
c.7927A= (p.Ile2643=)
c.4111A= (p.Ile1371=)
c.3664A= (p.Ile1222=)
c.3001A= (p.Ile1001=)
c.7516A= (p.Ile2506=)
n.8946-3511A=
5g.13780867G>ACA443259125DNAH5c.8913C>T (p.Phe2971=)
c.8868C>T (p.Phe2956=)
n.9028-3512C>T
c.9021C>T (p.Phe3007=)
c.7926C>T (p.Phe2642=)
c.4110C>T (p.Phe1370=)
c.3663C>T (p.Phe1221=)
c.3000C>T (p.Phe1000=)
c.7515C>T (p.Phe2505=)
n.8946-3512C>T
 COSMIC
5g.13780867G>CCA359212691DNAH5c.8913C>G (p.Phe2971Leu)
c.8868C>G (p.Phe2956Leu)
n.9028-3512C>G
c.9021C>G (p.Phe3007Leu)
c.7926C>G (p.Phe2642Leu)
c.4110C>G (p.Phe1370Leu)
c.3663C>G (p.Phe1221Leu)
c.3000C>G (p.Phe1000Leu)
c.7515C>G (p.Phe2505Leu)
n.8946-3512C>G
5g.13780867G>TCA359212692DNAH5c.8913C>A (p.Phe2971Leu)
c.8868C>A (p.Phe2956Leu)
n.9028-3512C>A
c.9021C>A (p.Phe3007Leu)
c.7926C>A (p.Phe2642Leu)
c.4110C>A (p.Phe1370Leu)
c.3663C>A (p.Phe1221Leu)
c.3000C>A (p.Phe1000Leu)
c.7515C>A (p.Phe2505Leu)
n.8946-3512C>A
5g.13780868A>CCA359212694DNAH5c.8912T>G (p.Phe2971Cys)
c.8867T>G (p.Phe2956Cys)
n.9028-3513T>G
c.9020T>G (p.Phe3007Cys)
c.7925T>G (p.Phe2642Cys)
c.4109T>G (p.Phe1370Cys)
c.3662T>G (p.Phe1221Cys)
c.2999T>G (p.Phe1000Cys)
c.7514T>G (p.Phe2505Cys)
n.8946-3513T>G
5g.13780868A>GCA359212695DNAH5c.8912T>C (p.Phe2971Ser)
c.8867T>C (p.Phe2956Ser)
n.9028-3513T>C
c.9020T>C (p.Phe3007Ser)
c.7925T>C (p.Phe2642Ser)
c.4109T>C (p.Phe1370Ser)
c.3662T>C (p.Phe1221Ser)
c.2999T>C (p.Phe1000Ser)
c.7514T>C (p.Phe2505Ser)
n.8946-3513T>C
5g.13780868A>TCA359212698DNAH5c.8912T>A (p.Phe2971Tyr)
c.8867T>A (p.Phe2956Tyr)
n.9028-3513T>A
c.9020T>A (p.Phe3007Tyr)
c.7925T>A (p.Phe2642Tyr)
c.4109T>A (p.Phe1370Tyr)
c.3662T>A (p.Phe1221Tyr)
c.2999T>A (p.Phe1000Tyr)
c.7514T>A (p.Phe2505Tyr)
n.8946-3513T>A
5g.13780869A>CCA359212700DNAH5c.8911T>G (p.Phe2971Val)
c.8866T>G (p.Phe2956Val)
n.9028-3514T>G
c.9019T>G (p.Phe3007Val)
c.7924T>G (p.Phe2642Val)
c.4108T>G (p.Phe1370Val)
c.3661T>G (p.Phe1221Val)
c.2998T>G (p.Phe1000Val)
c.7513T>G (p.Phe2505Val)
n.8946-3514T>G
5g.13780869A>GCA359212702DNAH5c.8911T>C (p.Phe2971Leu)
c.8866T>C (p.Phe2956Leu)
n.9028-3514T>C
c.9019T>C (p.Phe3007Leu)
c.7924T>C (p.Phe2642Leu)
c.4108T>C (p.Phe1370Leu)
c.3661T>C (p.Phe1221Leu)
c.2998T>C (p.Phe1000Leu)
c.7513T>C (p.Phe2505Leu)
n.8946-3514T>C
5g.13780869A>TCA359212704DNAH5c.8911T>A (p.Phe2971Ile)
c.8866T>A (p.Phe2956Ile)
n.9028-3514T>A
c.9019T>A (p.Phe3007Ile)
c.7924T>A (p.Phe2642Ile)
c.4108T>A (p.Phe1370Ile)
c.3661T>A (p.Phe1221Ile)
c.2998T>A (p.Phe1000Ile)
c.7513T>A (p.Phe2505Ile)
n.8946-3514T>A
5g.13780869_13780870delinsCCA2499306900DNAH5c.8910_8911delinsG (p.Phe2971SerfsTer12)
c.8865_8866delinsG (p.Phe2956SerfsTer12)
n.9028-3515_9028-3514delinsG
c.9018_9019delinsG (p.Phe3007SerfsTer12)
c.7923_7924delinsG (p.Phe2642SerfsTer12)
c.4107_4108delinsG (p.Phe1370SerfsTer12)
c.3660_3661delinsG (p.Phe1221SerfsTer12)
c.2997_2998delinsG (p.Phe1000SerfsTer12)
c.7512_7513delinsG (p.Phe2505SerfsTer12)
n.8946-3515_8946-3514delinsG
5g.13780870T>ACA443259139DNAH5c.8910A>T (p.Ser2970=)
c.8865A>T (p.Ser2955=)
n.9028-3515A>T
c.9018A>T (p.Ser3006=)
c.7923A>T (p.Ser2641=)
c.4107A>T (p.Ser1369=)
c.3660A>T (p.Ser1220=)
c.2997A>T (p.Ser999=)
c.7512A>T (p.Ser2504=)
n.8946-3515A>T
5g.13780870T>CCA3202675DNAH5c.8910A>G (p.Ser2970=)
c.8865A>G (p.Ser2955=)
n.9028-3515A>G
c.9018A>G (p.Ser3006=)
c.7923A>G (p.Ser2641=)
c.4107A>G (p.Ser1369=)
c.3660A>G (p.Ser1220=)
c.2997A>G (p.Ser999=)
c.7512A>G (p.Ser2504=)
n.8946-3515A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13780870T>GCA443259146DNAH5c.8910A>C (p.Ser2970=)
c.8865A>C (p.Ser2955=)
n.9028-3515A>C
c.9018A>C (p.Ser3006=)
c.7923A>C (p.Ser2641=)
c.4107A>C (p.Ser1369=)
c.3660A>C (p.Ser1220=)
c.2997A>C (p.Ser999=)
c.7512A>C (p.Ser2504=)
n.8946-3515A>C
5g.13780870T=CA1528435861DNAH5c.8910A= (p.Ser2970=)
c.8865A= (p.Ser2955=)
n.9028-3515A=
c.9018A= (p.Ser3006=)
c.7923A= (p.Ser2641=)
c.4107A= (p.Ser1369=)
c.3660A= (p.Ser1220=)
c.2997A= (p.Ser999=)
c.7512A= (p.Ser2504=)
n.8946-3515A=
5g.13780871G>ACA113948904DNAH5c.8909C>T (p.Ser2970Leu)
c.8864C>T (p.Ser2955Leu)
n.9028-3516C>T
c.9017C>T (p.Ser3006Leu)
c.7922C>T (p.Ser2641Leu)
c.4106C>T (p.Ser1369Leu)
c.3659C>T (p.Ser1220Leu)
c.2996C>T (p.Ser999Leu)
c.7511C>T (p.Ser2504Leu)
n.8946-3516C>T
 dbSNP gnomAD v4
5g.13780871G>CCA359212706DNAH5c.8909C>G (p.Ser2970Ter)
c.8864C>G (p.Ser2955Ter)
n.9028-3516C>G
c.9017C>G (p.Ser3006Ter)
c.7922C>G (p.Ser2641Ter)
c.4106C>G (p.Ser1369Ter)
c.3659C>G (p.Ser1220Ter)
c.2996C>G (p.Ser999Ter)
c.7511C>G (p.Ser2504Ter)
n.8946-3516C>G
 gnomAD v4
5g.13780871G=CA1528435862DNAH5c.8909C= (p.Ser2970=)
c.8864C= (p.Ser2955=)
n.9028-3516C=
c.9017C= (p.Ser3006=)
c.7922C= (p.Ser2641=)
c.4106C= (p.Ser1369=)
c.3659C= (p.Ser1220=)
c.2996C= (p.Ser999=)
c.7511C= (p.Ser2504=)
n.8946-3516C=
5g.13780871G>TCA359212707DNAH5c.8909C>A (p.Ser2970Ter)
c.8864C>A (p.Ser2955Ter)
n.9028-3516C>A
c.9017C>A (p.Ser3006Ter)
c.7922C>A (p.Ser2641Ter)
c.4106C>A (p.Ser1369Ter)
c.3659C>A (p.Ser1220Ter)
c.2996C>A (p.Ser999Ter)
c.7511C>A (p.Ser2504Ter)
n.8946-3516C>A
5g.13780872A>CCA359212710DNAH5c.8908T>G (p.Ser2970Ala)
c.8863T>G (p.Ser2955Ala)
n.9028-3517T>G
c.9016T>G (p.Ser3006Ala)
c.7921T>G (p.Ser2641Ala)
c.4105T>G (p.Ser1369Ala)
c.3658T>G (p.Ser1220Ala)
c.2995T>G (p.Ser999Ala)
c.7510T>G (p.Ser2504Ala)
n.8946-3517T>G
5g.13780872A>GCA359212711DNAH5c.8908T>C (p.Ser2970Pro)
c.8863T>C (p.Ser2955Pro)
n.9028-3517T>C
c.9016T>C (p.Ser3006Pro)
c.7921T>C (p.Ser2641Pro)
c.4105T>C (p.Ser1369Pro)
c.3658T>C (p.Ser1220Pro)
c.2995T>C (p.Ser999Pro)
c.7510T>C (p.Ser2504Pro)
n.8946-3517T>C
5g.13780872A>TCA359212713DNAH5c.8908T>A (p.Ser2970Thr)
c.8863T>A (p.Ser2955Thr)
n.9028-3517T>A
c.9016T>A (p.Ser3006Thr)
c.7921T>A (p.Ser2641Thr)
c.4105T>A (p.Ser1369Thr)
c.3658T>A (p.Ser1220Thr)
c.2995T>A (p.Ser999Thr)
c.7510T>A (p.Ser2504Thr)
n.8946-3517T>A
5g.13780873A>CCA443259153DNAH5c.8907T>G (p.Ala2969=)
c.8862T>G (p.Ala2954=)
n.9028-3518T>G
c.9015T>G (p.Ala3005=)
c.7920T>G (p.Ala2640=)
c.4104T>G (p.Ala1368=)
c.3657T>G (p.Ala1219=)
c.2994T>G (p.Ala998=)
c.7509T>G (p.Ala2503=)
n.8946-3518T>G
5g.13780873A>GCA443259155DNAH5c.8907T>C (p.Ala2969=)
c.8862T>C (p.Ala2954=)
n.9028-3518T>C
c.9015T>C (p.Ala3005=)
c.7920T>C (p.Ala2640=)
c.4104T>C (p.Ala1368=)
c.3657T>C (p.Ala1219=)
c.2994T>C (p.Ala998=)
c.7509T>C (p.Ala2503=)
n.8946-3518T>C
5g.13780873A>TCA443259154DNAH5c.8907T>A (p.Ala2969=)
c.8862T>A (p.Ala2954=)
n.9028-3518T>A
c.9015T>A (p.Ala3005=)
c.7920T>A (p.Ala2640=)
c.4104T>A (p.Ala1368=)
c.3657T>A (p.Ala1219=)
c.2994T>A (p.Ala998=)
c.7509T>A (p.Ala2503=)
n.8946-3518T>A
5g.13780874G>ACA359212714DNAH5c.8906C>T (p.Ala2969Val)
c.8861C>T (p.Ala2954Val)
n.9028-3519C>T
c.9014C>T (p.Ala3005Val)
c.7919C>T (p.Ala2640Val)
c.4103C>T (p.Ala1368Val)
c.3656C>T (p.Ala1219Val)
c.2993C>T (p.Ala998Val)
c.7508C>T (p.Ala2503Val)
n.8946-3519C>T
5g.13780874G>CCA359212716DNAH5c.8906C>G (p.Ala2969Gly)
c.8861C>G (p.Ala2954Gly)
n.9028-3519C>G
c.9014C>G (p.Ala3005Gly)
c.7919C>G (p.Ala2640Gly)
c.4103C>G (p.Ala1368Gly)
c.3656C>G (p.Ala1219Gly)
c.2993C>G (p.Ala998Gly)
c.7508C>G (p.Ala2503Gly)
n.8946-3519C>G
 ClinVar dbSNP gnomAD v4 COSMIC
5g.13780874G=CA1528435863DNAH5c.8906C= (p.Ala2969=)
c.8861C= (p.Ala2954=)
n.9028-3519C=
c.9014C= (p.Ala3005=)
c.7919C= (p.Ala2640=)
c.4103C= (p.Ala1368=)
c.3656C= (p.Ala1219=)
c.2993C= (p.Ala998=)
c.7508C= (p.Ala2503=)
n.8946-3519C=
5g.13780874G>TCA359212718DNAH5c.8906C>A (p.Ala2969Asp)
c.8861C>A (p.Ala2954Asp)
n.9028-3519C>A
c.9014C>A (p.Ala3005Asp)
c.7919C>A (p.Ala2640Asp)
c.4103C>A (p.Ala1368Asp)
c.3656C>A (p.Ala1219Asp)
c.2993C>A (p.Ala998Asp)
c.7508C>A (p.Ala2503Asp)
n.8946-3519C>A
5g.13780875C>ACA3202676DNAH5c.8905G>T (p.Ala2969Ser)
c.8860G>T (p.Ala2954Ser)
n.9028-3520G>T
c.9013G>T (p.Ala3005Ser)
c.7918G>T (p.Ala2640Ser)
c.4102G>T (p.Ala1368Ser)
c.3655G>T (p.Ala1219Ser)
c.2992G>T (p.Ala998Ser)
c.7507G>T (p.Ala2503Ser)
n.8946-3520G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched