Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13890973G>A | CA557874611 | DNAH5 | c.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 |
5 | g.13890973G= | CA1528486382 | DNAH5 | c.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= | |
5 | g.13890973G>T | CA557874612 | DNAH5 | c.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 |
5 | g.13890974del | CA2673277523 | DNAH5 | c.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 |
5 | g.13890974A>C | CA359198823 | DNAH5 | c.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 | |
5 | g.13890974A>G | CA359198825 | DNAH5 | c.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 | |
5 | g.13890974A>T | CA359198827 | DNAH5 | c.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 | |
5 | g.13890975C>A | CA113936604 | DNAH5 | c.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 |
5 | g.13890975C= | CA1528486383 | DNAH5 | c.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= | |
5 | g.13890975C>G | CA359198831 | DNAH5 | c.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 | |
5 | g.13890975C>T | CA359198834 | DNAH5 | c.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 |
5 | g.13890976C>A | CA359198838 | DNAH5 | c.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 | |
5 | g.13890976C>G | CA359198840 | DNAH5 | c.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 | |
5 | g.13890976C>T | CA443273881 | DNAH5 | c.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 | |
5 | g.13890977T>A | CA359198845 | DNAH5 | c.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 | |
5 | g.13890977T>C | CA359198847 | DNAH5 | c.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 | |
5 | g.13890977T>G | CA359198851 | DNAH5 | c.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 | |
5 | g.13890978T>A | CA359198854 | DNAH5 | c.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 | |
5 | g.13890978T>C | CA113936610 | DNAH5 | c.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 |
5 | g.13890978T>G | CA359198857 | DNAH5 | c.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 | |
5 | g.13890978T= | CA1528486384 | DNAH5 | c.2575A= (p.Lys859=) c.2530A= (p.Lys844=) n.2782A= c.2683A= (p.Lys895=) c.1588A= (p.Lys530=) c.1177A= (p.Lys393=) n.2700A= | |
5 | g.13890979T>A | CA443273882 | DNAH5 | c.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 | |
5 | g.13890979T>C | CA443273883 | DNAH5 | c.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 | |
5 | g.13890979T>G | CA443273884 | DNAH5 | c.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 | |
5 | g.13890980G>A | CA359198862 | DNAH5 | c.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 | |
5 | g.13890980G>C | CA359198863 | DNAH5 | c.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 | |
5 | g.13890980G= | CA1528486385 | DNAH5 | c.2573C= (p.Thr858=) c.2528C= (p.Thr843=) n.2780C= c.2681C= (p.Thr894=) c.1586C= (p.Thr529=) c.1175C= (p.Thr392=) n.2698C= | |
5 | g.13890980G>T | CA359198865 | DNAH5 | c.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 |
5 | g.13890981T>A | CA359198868 | DNAH5 | c.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 | |
5 | g.13890981T>C | CA359198869 | DNAH5 | c.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 |
5 | g.13890981T>G | CA359198871 | DNAH5 | c.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 |
5 | g.13890982C>A | CA359198873 | DNAH5 | c.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 | |
5 | g.13890982C= | CA1528486386 | DNAH5 | c.2571G= (p.Met857=) c.2526G= (p.Met842=) n.2778G= c.2679G= (p.Met893=) c.1584G= (p.Met528=) c.1173G= (p.Met391=) n.2696G= | |
5 | g.13890982C>G | CA359198876 | DNAH5 | c.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 | |
5 | g.13890982C>T | CA3204554 | DNAH5 | c.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 |
5 | g.13890983A>C | CA359198885 | DNAH5 | c.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 | |
5 | g.13890983A>G | CA359198882 | DNAH5 | c.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 | |
5 | g.13890983A>T | CA359198880 | DNAH5 | c.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 | |
5 | g.13890984T>A | CA359198886 | DNAH5 | c.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 | |
5 | g.13890984T>C | CA359198887 | DNAH5 | c.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 | |
5 | g.13890984T>G | CA359198890 | DNAH5 | c.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 | |
5 | g.13890985T>A | CA359198894 | DNAH5 | c.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 | |
5 | g.13890985T>C | CA443273886 | DNAH5 | c.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 |
5 | g.13890985T>G | CA359198896 | DNAH5 | c.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 | |
5 | g.13890986T>A | CA359198899 | DNAH5 | c.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 | |
5 | g.13890986T>C | CA359198901 | DNAH5 | c.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 | |
5 | g.13890986T>G | CA359198903 | DNAH5 | c.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 | |
5 | g.13890986_13890987insACAAGCAGAAGACGGCATA | CA2580072169 | DNAH5 | c.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 |
5 | g.13890987G>A | CA359198905 | DNAH5 | c.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 | |
5 | g.13890987G>C | CA359198907 | DNAH5 | c.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 |