Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13890973G>ACA557874611DNAH5c.2577+3C>T (n.2577+3C>T)
c.2532+3C>T (n.2532+3C>T)
n.2784+3C>T
c.2685+3C>T (n.2685+3C>T)
c.1590+3C>T (n.1590+3C>T)
c.1179+3C>T (n.1179+3C>T)
n.2702+3C>T
dbSNP gnomAD v2 gnomAD v4
5g.13890973G=CA1528486382DNAH5c.2577+3C= (n.2577+3C=)
c.2532+3C= (n.2532+3C=)
n.2784+3C=
c.2685+3C= (n.2685+3C=)
c.1590+3C= (n.1590+3C=)
c.1179+3C= (n.1179+3C=)
n.2702+3C=
5g.13890973G>TCA557874612DNAH5c.2577+3C>A (n.2577+3C>A)
c.2532+3C>A (n.2532+3C>A)
n.2784+3C>A
c.2685+3C>A (n.2685+3C>A)
c.1590+3C>A (n.1590+3C>A)
c.1179+3C>A (n.1179+3C>A)
n.2702+3C>A
dbSNP gnomAD v2 gnomAD v4
5g.13890974delCA2673277523DNAH5c.2577+2del (n.2577+2del)
c.2532+2del (n.2532+2del)
n.2784+2del
c.2685+2del (n.2685+2del)
c.1590+2del (n.1590+2del)
c.1179+2del (n.1179+2del)
n.2702+2del
gnomAD v4
5g.13890974A>CCA359198823DNAH5c.2577+2T>G (n.2577+2T>G)
c.2532+2T>G (n.2532+2T>G)
n.2784+2T>G
c.2685+2T>G (n.2685+2T>G)
c.1590+2T>G (n.1590+2T>G)
c.1179+2T>G (n.1179+2T>G)
n.2702+2T>G
5g.13890974A>GCA359198825DNAH5c.2577+2T>C (n.2577+2T>C)
c.2532+2T>C (n.2532+2T>C)
n.2784+2T>C
c.2685+2T>C (n.2685+2T>C)
c.1590+2T>C (n.1590+2T>C)
c.1179+2T>C (n.1179+2T>C)
n.2702+2T>C
5g.13890974A>TCA359198827DNAH5c.2577+2T>A (n.2577+2T>A)
c.2532+2T>A (n.2532+2T>A)
n.2784+2T>A
c.2685+2T>A (n.2685+2T>A)
c.1590+2T>A (n.1590+2T>A)
c.1179+2T>A (n.1179+2T>A)
n.2702+2T>A
5g.13890975C>ACA113936604DNAH5c.2577+1G>T (n.2577+1G>T)
c.2532+1G>T (n.2532+1G>T)
n.2784+1G>T
c.2685+1G>T (n.2685+1G>T)
c.1590+1G>T (n.1590+1G>T)
c.1179+1G>T (n.1179+1G>T)
n.2702+1G>T
dbSNP gnomAD v4
5g.13890975C=CA1528486383DNAH5c.2577+1G= (n.2577+1G=)
c.2532+1G= (n.2532+1G=)
n.2784+1G=
c.2685+1G= (n.2685+1G=)
c.1590+1G= (n.1590+1G=)
c.1179+1G= (n.1179+1G=)
n.2702+1G=
5g.13890975C>GCA359198831DNAH5c.2577+1G>C (n.2577+1G>C)
c.2532+1G>C (n.2532+1G>C)
n.2784+1G>C
c.2685+1G>C (n.2685+1G>C)
c.1590+1G>C (n.1590+1G>C)
c.1179+1G>C (n.1179+1G>C)
n.2702+1G>C
5g.13890975C>TCA359198834DNAH5c.2577+1G>A (n.2577+1G>A)
c.2532+1G>A (n.2532+1G>A)
n.2784+1G>A
c.2685+1G>A (n.2685+1G>A)
c.1590+1G>A (n.1590+1G>A)
c.1179+1G>A (n.1179+1G>A)
n.2702+1G>A
ClinVar COSMIC
5g.13890976C>ACA359198838DNAH5c.2577G>T (p.Lys859Asn)
c.2532G>T (p.Lys844Asn)
n.2784G>T
c.2685G>T (p.Lys895Asn)
c.1590G>T (p.Lys530Asn)
c.1179G>T (p.Lys393Asn)
n.2702G>T
5g.13890976C>GCA359198840DNAH5c.2577G>C (p.Lys859Asn)
c.2532G>C (p.Lys844Asn)
n.2784G>C
c.2685G>C (p.Lys895Asn)
c.1590G>C (p.Lys530Asn)
c.1179G>C (p.Lys393Asn)
n.2702G>C
5g.13890976C>TCA443273881DNAH5c.2577G>A (p.Lys859=)
c.2532G>A (p.Lys844=)
n.2784G>A
c.2685G>A (p.Lys895=)
c.1590G>A (p.Lys530=)
c.1179G>A (p.Lys393=)
n.2702G>A
5g.13890977T>ACA359198845DNAH5c.2576A>T (p.Lys859Met)
c.2531A>T (p.Lys844Met)
n.2783A>T
c.2684A>T (p.Lys895Met)
c.1589A>T (p.Lys530Met)
c.1178A>T (p.Lys393Met)
n.2701A>T
5g.13890977T>CCA359198847DNAH5c.2576A>G (p.Lys859Arg)
c.2531A>G (p.Lys844Arg)
n.2783A>G
c.2684A>G (p.Lys895Arg)
c.1589A>G (p.Lys530Arg)
c.1178A>G (p.Lys393Arg)
n.2701A>G
5g.13890977T>GCA359198851DNAH5c.2576A>C (p.Lys859Thr)
c.2531A>C (p.Lys844Thr)
n.2783A>C
c.2684A>C (p.Lys895Thr)
c.1589A>C (p.Lys530Thr)
c.1178A>C (p.Lys393Thr)
n.2701A>C
5g.13890978T>ACA359198854DNAH5c.2575A>T (p.Lys859Ter)
c.2530A>T (p.Lys844Ter)
n.2782A>T
c.2683A>T (p.Lys895Ter)
c.1588A>T (p.Lys530Ter)
c.1177A>T (p.Lys393Ter)
n.2700A>T
5g.13890978T>CCA113936610DNAH5c.2575A>G (p.Lys859Glu)
c.2530A>G (p.Lys844Glu)
n.2782A>G
c.2683A>G (p.Lys895Glu)
c.1588A>G (p.Lys530Glu)
c.1177A>G (p.Lys393Glu)
n.2700A>G
dbSNP gnomAD v4
5g.13890978T>GCA359198857DNAH5c.2575A>C (p.Lys859Gln)
c.2530A>C (p.Lys844Gln)
n.2782A>C
c.2683A>C (p.Lys895Gln)
c.1588A>C (p.Lys530Gln)
c.1177A>C (p.Lys393Gln)
n.2700A>C
5g.13890978T=CA1528486384DNAH5c.2575A= (p.Lys859=)
c.2530A= (p.Lys844=)
n.2782A=
c.2683A= (p.Lys895=)
c.1588A= (p.Lys530=)
c.1177A= (p.Lys393=)
n.2700A=
5g.13890979T>ACA443273882DNAH5c.2574A>T (p.Thr858=)
c.2529A>T (p.Thr843=)
n.2781A>T
c.2682A>T (p.Thr894=)
c.1587A>T (p.Thr529=)
c.1176A>T (p.Thr392=)
n.2699A>T
5g.13890979T>CCA443273883DNAH5c.2574A>G (p.Thr858=)
c.2529A>G (p.Thr843=)
n.2781A>G
c.2682A>G (p.Thr894=)
c.1587A>G (p.Thr529=)
c.1176A>G (p.Thr392=)
n.2699A>G
5g.13890979T>GCA443273884DNAH5c.2574A>C (p.Thr858=)
c.2529A>C (p.Thr843=)
n.2781A>C
c.2682A>C (p.Thr894=)
c.1587A>C (p.Thr529=)
c.1176A>C (p.Thr392=)
n.2699A>C
5g.13890980G>ACA359198862DNAH5c.2573C>T (p.Thr858Ile)
c.2528C>T (p.Thr843Ile)
n.2780C>T
c.2681C>T (p.Thr894Ile)
c.1586C>T (p.Thr529Ile)
c.1175C>T (p.Thr392Ile)
n.2698C>T
5g.13890980G>CCA359198863DNAH5c.2573C>G (p.Thr858Arg)
c.2528C>G (p.Thr843Arg)
n.2780C>G
c.2681C>G (p.Thr894Arg)
c.1586C>G (p.Thr529Arg)
c.1175C>G (p.Thr392Arg)
n.2698C>G
5g.13890980G=CA1528486385DNAH5c.2573C= (p.Thr858=)
c.2528C= (p.Thr843=)
n.2780C=
c.2681C= (p.Thr894=)
c.1586C= (p.Thr529=)
c.1175C= (p.Thr392=)
n.2698C=
5g.13890980G>TCA359198865DNAH5c.2573C>A (p.Thr858Lys)
c.2528C>A (p.Thr843Lys)
n.2780C>A
c.2681C>A (p.Thr894Lys)
c.1586C>A (p.Thr529Lys)
c.1175C>A (p.Thr392Lys)
n.2698C>A
dbSNP
5g.13890981T>ACA359198868DNAH5c.2572A>T (p.Thr858Ser)
c.2527A>T (p.Thr843Ser)
n.2779A>T
c.2680A>T (p.Thr894Ser)
c.1585A>T (p.Thr529Ser)
c.1174A>T (p.Thr392Ser)
n.2697A>T
5g.13890981T>CCA359198869DNAH5c.2572A>G (p.Thr858Ala)
c.2527A>G (p.Thr843Ala)
n.2779A>G
c.2680A>G (p.Thr894Ala)
c.1585A>G (p.Thr529Ala)
c.1174A>G (p.Thr392Ala)
n.2697A>G
gnomAD v4
5g.13890981T>GCA359198871DNAH5c.2572A>C (p.Thr858Pro)
c.2527A>C (p.Thr843Pro)
n.2779A>C
c.2680A>C (p.Thr894Pro)
c.1585A>C (p.Thr529Pro)
c.1174A>C (p.Thr392Pro)
n.2697A>C
gnomAD v4
5g.13890982C>ACA359198873DNAH5c.2571G>T (p.Met857Ile)
c.2526G>T (p.Met842Ile)
n.2778G>T
c.2679G>T (p.Met893Ile)
c.1584G>T (p.Met528Ile)
c.1173G>T (p.Met391Ile)
n.2696G>T
5g.13890982C=CA1528486386DNAH5c.2571G= (p.Met857=)
c.2526G= (p.Met842=)
n.2778G=
c.2679G= (p.Met893=)
c.1584G= (p.Met528=)
c.1173G= (p.Met391=)
n.2696G=
5g.13890982C>GCA359198876DNAH5c.2571G>C (p.Met857Ile)
c.2526G>C (p.Met842Ile)
n.2778G>C
c.2679G>C (p.Met893Ile)
c.1584G>C (p.Met528Ile)
c.1173G>C (p.Met391Ile)
n.2696G>C
5g.13890982C>TCA3204554DNAH5c.2571G>A (p.Met857Ile)
c.2526G>A (p.Met842Ile)
n.2778G>A
c.2679G>A (p.Met893Ile)
c.1584G>A (p.Met528Ile)
c.1173G>A (p.Met391Ile)
n.2696G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13890983A>CCA359198885DNAH5c.2570T>G (p.Met857Arg)
c.2525T>G (p.Met842Arg)
n.2777T>G
c.2678T>G (p.Met893Arg)
c.1583T>G (p.Met528Arg)
c.1172T>G (p.Met391Arg)
n.2695T>G
5g.13890983A>GCA359198882DNAH5c.2570T>C (p.Met857Thr)
c.2525T>C (p.Met842Thr)
n.2777T>C
c.2678T>C (p.Met893Thr)
c.1583T>C (p.Met528Thr)
c.1172T>C (p.Met391Thr)
n.2695T>C
5g.13890983A>TCA359198880DNAH5c.2570T>A (p.Met857Lys)
c.2525T>A (p.Met842Lys)
n.2777T>A
c.2678T>A (p.Met893Lys)
c.1583T>A (p.Met528Lys)
c.1172T>A (p.Met391Lys)
n.2695T>A
5g.13890984T>ACA359198886DNAH5c.2569A>T (p.Met857Leu)
c.2524A>T (p.Met842Leu)
n.2776A>T
c.2677A>T (p.Met893Leu)
c.1582A>T (p.Met528Leu)
c.1171A>T (p.Met391Leu)
n.2694A>T
5g.13890984T>CCA359198887DNAH5c.2569A>G (p.Met857Val)
c.2524A>G (p.Met842Val)
n.2776A>G
c.2677A>G (p.Met893Val)
c.1582A>G (p.Met528Val)
c.1171A>G (p.Met391Val)
n.2694A>G
5g.13890984T>GCA359198890DNAH5c.2569A>C (p.Met857Leu)
c.2524A>C (p.Met842Leu)
n.2776A>C
c.2677A>C (p.Met893Leu)
c.1582A>C (p.Met528Leu)
c.1171A>C (p.Met391Leu)
n.2694A>C
5g.13890985T>ACA359198894DNAH5c.2568A>T (p.Gln856His)
c.2523A>T (p.Gln841His)
n.2775A>T
c.2676A>T (p.Gln892His)
c.1581A>T (p.Gln527His)
c.1170A>T (p.Gln390His)
n.2693A>T
5g.13890985T>CCA443273886DNAH5c.2568A>G (p.Gln856=)
c.2523A>G (p.Gln841=)
n.2775A>G
c.2676A>G (p.Gln892=)
c.1581A>G (p.Gln527=)
c.1170A>G (p.Gln390=)
n.2693A>G
gnomAD v4
5g.13890985T>GCA359198896DNAH5c.2568A>C (p.Gln856His)
c.2523A>C (p.Gln841His)
n.2775A>C
c.2676A>C (p.Gln892His)
c.1581A>C (p.Gln527His)
c.1170A>C (p.Gln390His)
n.2693A>C
5g.13890986T>ACA359198899DNAH5c.2567A>T (p.Gln856Leu)
c.2522A>T (p.Gln841Leu)
n.2774A>T
c.2675A>T (p.Gln892Leu)
c.1580A>T (p.Gln527Leu)
c.1169A>T (p.Gln390Leu)
n.2692A>T
5g.13890986T>CCA359198901DNAH5c.2567A>G (p.Gln856Arg)
c.2522A>G (p.Gln841Arg)
n.2774A>G
c.2675A>G (p.Gln892Arg)
c.1580A>G (p.Gln527Arg)
c.1169A>G (p.Gln390Arg)
n.2692A>G
5g.13890986T>GCA359198903DNAH5c.2567A>C (p.Gln856Pro)
c.2522A>C (p.Gln841Pro)
n.2774A>C
c.2675A>C (p.Gln892Pro)
c.1580A>C (p.Gln527Pro)
c.1169A>C (p.Gln390Pro)
n.2692A>C
5g.13890986_13890987insACAAGCAGAAGACGGCATACA2580072169DNAH5c.2566_2567insTATGCCGTCTTCTGCTTGT (p.Gln856LeufsTer23)
c.2521_2522insTATGCCGTCTTCTGCTTGT (p.Gln841LeufsTer23)
n.2773_2774insTATGCCGTCTTCTGCTTGT
c.2674_2675insTATGCCGTCTTCTGCTTGT (p.Gln892LeufsTer23)
c.1579_1580insTATGCCGTCTTCTGCTTGT (p.Gln527LeufsTer23)
c.1168_1169insTATGCCGTCTTCTGCTTGT (p.Gln390LeufsTer23)
n.2691_2692insTATGCCGTCTTCTGCTTGT
ClinVar
5g.13890987G>ACA359198905DNAH5c.2566C>T (p.Gln856Ter)
c.2521C>T (p.Gln841Ter)
n.2773C>T
c.2674C>T (p.Gln892Ter)
c.1579C>T (p.Gln527Ter)
c.1168C>T (p.Gln390Ter)
n.2691C>T
5g.13890987G>CCA359198907DNAH5c.2566C>G (p.Gln856Glu)
c.2521C>G (p.Gln841Glu)
n.2773C>G
c.2674C>G (p.Gln892Glu)
c.1579C>G (p.Gln527Glu)
c.1168C>G (p.Gln390Glu)
n.2691C>G

Number of alleles fetched