Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
5g.13780875C=CA1528435864DNAH5c.8905G= (p.Ala2969=)
c.8860G= (p.Ala2954=)
n.9028-3520G=
c.9013G= (p.Ala3005=)
c.7918G= (p.Ala2640=)
c.4102G= (p.Ala1368=)
c.3655G= (p.Ala1219=)
c.2992G= (p.Ala998=)
c.7507G= (p.Ala2503=)
n.8946-3520G=
5g.13780875C>GCA359212720DNAH5c.8905G>C (p.Ala2969Pro)
c.8860G>C (p.Ala2954Pro)
n.9028-3520G>C
c.9013G>C (p.Ala3005Pro)
c.7918G>C (p.Ala2640Pro)
c.4102G>C (p.Ala1368Pro)
c.3655G>C (p.Ala1219Pro)
c.2992G>C (p.Ala998Pro)
c.7507G>C (p.Ala2503Pro)
n.8946-3520G>C
5g.13780875C>TCA359212722DNAH5c.8905G>A (p.Ala2969Thr)
c.8860G>A (p.Ala2954Thr)
n.9028-3520G>A
c.9013G>A (p.Ala3005Thr)
c.7918G>A (p.Ala2640Thr)
c.4102G>A (p.Ala1368Thr)
c.3655G>A (p.Ala1219Thr)
c.2992G>A (p.Ala998Thr)
c.7507G>A (p.Ala2503Thr)
n.8946-3520G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13780876C>ACA359212726DNAH5c.8904G>T (p.Leu2968Phe)
c.8859G>T (p.Leu2953Phe)
n.9028-3521G>T
c.9012G>T (p.Leu3004Phe)
c.7917G>T (p.Leu2639Phe)
c.4101G>T (p.Leu1367Phe)
c.3654G>T (p.Leu1218Phe)
c.2991G>T (p.Leu997Phe)
c.7506G>T (p.Leu2502Phe)
n.8946-3521G>T
5g.13780876C>GCA359212727DNAH5c.8904G>C (p.Leu2968Phe)
c.8859G>C (p.Leu2953Phe)
n.9028-3521G>C
c.9012G>C (p.Leu3004Phe)
c.7917G>C (p.Leu2639Phe)
c.4101G>C (p.Leu1367Phe)
c.3654G>C (p.Leu1218Phe)
c.2991G>C (p.Leu997Phe)
c.7506G>C (p.Leu2502Phe)
n.8946-3521G>C
5g.13780876C>TCA443259165DNAH5c.8904G>A (p.Leu2968=)
c.8859G>A (p.Leu2953=)
n.9028-3521G>A
c.9012G>A (p.Leu3004=)
c.7917G>A (p.Leu2639=)
c.4101G>A (p.Leu1367=)
c.3654G>A (p.Leu1218=)
c.2991G>A (p.Leu997=)
c.7506G>A (p.Leu2502=)
n.8946-3521G>A
5g.13780877A>CCA359212732DNAH5c.8903T>G (p.Leu2968Trp)
c.8858T>G (p.Leu2953Trp)
n.9028-3522T>G
c.9011T>G (p.Leu3004Trp)
c.7916T>G (p.Leu2639Trp)
c.4100T>G (p.Leu1367Trp)
c.3653T>G (p.Leu1218Trp)
c.2990T>G (p.Leu997Trp)
c.7505T>G (p.Leu2502Trp)
n.8946-3522T>G
5g.13780877A>GCA359212730DNAH5c.8903T>C (p.Leu2968Ser)
c.8858T>C (p.Leu2953Ser)
n.9028-3522T>C
c.9011T>C (p.Leu3004Ser)
c.7916T>C (p.Leu2639Ser)
c.4100T>C (p.Leu1367Ser)
c.3653T>C (p.Leu1218Ser)
c.2990T>C (p.Leu997Ser)
c.7505T>C (p.Leu2502Ser)
n.8946-3522T>C
5g.13780877A>TCA359212729DNAH5c.8903T>A (p.Leu2968Ter)
c.8858T>A (p.Leu2953Ter)
n.9028-3522T>A
c.9011T>A (p.Leu3004Ter)
c.7916T>A (p.Leu2639Ter)
c.4100T>A (p.Leu1367Ter)
c.3653T>A (p.Leu1218Ter)
c.2990T>A (p.Leu997Ter)
c.7505T>A (p.Leu2502Ter)
n.8946-3522T>A
5g.13780878A=CA1528435865DNAH5c.8902T= (p.Leu2968=)
c.8857T= (p.Leu2953=)
n.9028-3523T=
c.9010T= (p.Leu3004=)
c.7915T= (p.Leu2639=)
c.4099T= (p.Leu1367=)
c.3652T= (p.Leu1218=)
c.2989T= (p.Leu997=)
c.7504T= (p.Leu2502=)
n.8946-3523T=
5g.13780878A>CCA359212734DNAH5c.8902T>G (p.Leu2968Val)
c.8857T>G (p.Leu2953Val)
n.9028-3523T>G
c.9010T>G (p.Leu3004Val)
c.7915T>G (p.Leu2639Val)
c.4099T>G (p.Leu1367Val)
c.3652T>G (p.Leu1218Val)
c.2989T>G (p.Leu997Val)
c.7504T>G (p.Leu2502Val)
n.8946-3523T>G
5g.13780878A>GCA113948912DNAH5c.8902T>C (p.Leu2968=)
c.8857T>C (p.Leu2953=)
n.9028-3523T>C
c.9010T>C (p.Leu3004=)
c.7915T>C (p.Leu2639=)
c.4099T>C (p.Leu1367=)
c.3652T>C (p.Leu1218=)
c.2989T>C (p.Leu997=)
c.7504T>C (p.Leu2502=)
n.8946-3523T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.13780878A>TCA359212735DNAH5c.8902T>A (p.Leu2968Met)
c.8857T>A (p.Leu2953Met)
n.9028-3523T>A
c.9010T>A (p.Leu3004Met)
c.7915T>A (p.Leu2639Met)
c.4099T>A (p.Leu1367Met)
c.3652T>A (p.Leu1218Met)
c.2989T>A (p.Leu997Met)
c.7504T>A (p.Leu2502Met)
n.8946-3523T>A

Number of alleles fetched