| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13891072G>A | CA3204570 | DNAH5 | c.2481C>T (p.Arg827=) c.2436C>T (p.Arg812=) n.2688C>T c.2589C>T (p.Arg863=) c.1494C>T (p.Arg498=) c.1083C>T (p.Arg361=) n.2606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13891072G>C | CA443273948 | DNAH5 | c.2481C>G (p.Arg827=) c.2436C>G (p.Arg812=) n.2688C>G c.2589C>G (p.Arg863=) c.1494C>G (p.Arg498=) c.1083C>G (p.Arg361=) n.2606C>G | |
| 5 | g.13891072G= | CA1528486423 | DNAH5 | c.2481C= (p.Arg827=) c.2436C= (p.Arg812=) n.2688C= c.2589C= (p.Arg863=) c.1494C= (p.Arg498=) c.1083C= (p.Arg361=) n.2606C= | |
| 5 | g.13891072G>T | CA443273949 | DNAH5 | c.2481C>A (p.Arg827=) c.2436C>A (p.Arg812=) n.2688C>A c.2589C>A (p.Arg863=) c.1494C>A (p.Arg498=) c.1083C>A (p.Arg361=) n.2606C>A | |
| 5 | g.13891073C>A | CA3204572 | DNAH5 | c.2480G>T (p.Arg827Leu) c.2435G>T (p.Arg812Leu) n.2687G>T c.2588G>T (p.Arg863Leu) c.1493G>T (p.Arg498Leu) c.1082G>T (p.Arg361Leu) n.2605G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13891073C= | CA1528486424 | DNAH5 | c.2480G= (p.Arg827=) c.2435G= (p.Arg812=) n.2687G= c.2588G= (p.Arg863=) c.1493G= (p.Arg498=) c.1082G= (p.Arg361=) n.2605G= | |
| 5 | g.13891073C>G | CA3204573 | DNAH5 | c.2480G>C (p.Arg827Pro) c.2435G>C (p.Arg812Pro) n.2687G>C c.2588G>C (p.Arg863Pro) c.1493G>C (p.Arg498Pro) c.1082G>C (p.Arg361Pro) n.2605G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13891073C>T | CA3204571 | DNAH5 | c.2480G>A (p.Arg827His) c.2435G>A (p.Arg812His) n.2687G>A c.2588G>A (p.Arg863His) c.1493G>A (p.Arg498His) c.1082G>A (p.Arg361His) n.2605G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13891074G>A | CA3204574 | DNAH5 | c.2479C>T (p.Arg827Cys) c.2434C>T (p.Arg812Cys) n.2686C>T c.2587C>T (p.Arg863Cys) c.1492C>T (p.Arg498Cys) c.1081C>T (p.Arg361Cys) n.2604C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13891074G>C | CA359199762 | DNAH5 | c.2479C>G (p.Arg827Gly) c.2434C>G (p.Arg812Gly) n.2686C>G c.2587C>G (p.Arg863Gly) c.1492C>G (p.Arg498Gly) c.1081C>G (p.Arg361Gly) n.2604C>G | |
| 5 | g.13891074G= | CA1528486425 | DNAH5 | c.2479C= (p.Arg827=) c.2434C= (p.Arg812=) n.2686C= c.2587C= (p.Arg863=) c.1492C= (p.Arg498=) c.1081C= (p.Arg361=) n.2604C= | |
| 5 | g.13891074G>T | CA16612015 | DNAH5 | c.2479C>A (p.Arg827Ser) c.2434C>A (p.Arg812Ser) n.2686C>A c.2587C>A (p.Arg863Ser) c.1492C>A (p.Arg498Ser) c.1081C>A (p.Arg361Ser) n.2604C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.13891075G>A | CA443273950 | DNAH5 | c.2478C>T (p.Phe826=) c.2433C>T (p.Phe811=) n.2685C>T c.2586C>T (p.Phe862=) c.1491C>T (p.Phe497=) c.1080C>T (p.Phe360=) n.2603C>T | gnomAD v4 |
| 5 | g.13891075G>C | CA359199763 | DNAH5 | c.2478C>G (p.Phe826Leu) c.2433C>G (p.Phe811Leu) n.2685C>G c.2586C>G (p.Phe862Leu) c.1491C>G (p.Phe497Leu) c.1080C>G (p.Phe360Leu) n.2603C>G | |
| 5 | g.13891075G>T | CA359199764 | DNAH5 | c.2478C>A (p.Phe826Leu) c.2433C>A (p.Phe811Leu) n.2685C>A c.2586C>A (p.Phe862Leu) c.1491C>A (p.Phe497Leu) c.1080C>A (p.Phe360Leu) n.2603C>A | |
| 5 | g.13891076A>C | CA359199766 | DNAH5 | c.2477T>G (p.Phe826Cys) c.2432T>G (p.Phe811Cys) n.2684T>G c.2585T>G (p.Phe862Cys) c.1490T>G (p.Phe497Cys) c.1079T>G (p.Phe360Cys) n.2602T>G | |
| 5 | g.13891076A>G | CA359199768 | DNAH5 | c.2477T>C (p.Phe826Ser) c.2432T>C (p.Phe811Ser) n.2684T>C c.2585T>C (p.Phe862Ser) c.1490T>C (p.Phe497Ser) c.1079T>C (p.Phe360Ser) n.2602T>C | |
| 5 | g.13891076A>T | CA359199770 | DNAH5 | c.2477T>A (p.Phe826Tyr) c.2432T>A (p.Phe811Tyr) n.2684T>A c.2585T>A (p.Phe862Tyr) c.1490T>A (p.Phe497Tyr) c.1079T>A (p.Phe360Tyr) n.2602T>A | |
| 5 | g.13891077A= | CA1528486426 | DNAH5 | c.2476T= (p.Phe826=) c.2431T= (p.Phe811=) n.2683T= c.2584T= (p.Phe862=) c.1489T= (p.Phe497=) c.1078T= (p.Phe360=) n.2601T= | |
| 5 | g.13891077A>C | CA359199771 | DNAH5 | c.2476T>G (p.Phe826Val) c.2431T>G (p.Phe811Val) n.2683T>G c.2584T>G (p.Phe862Val) c.1489T>G (p.Phe497Val) c.1078T>G (p.Phe360Val) n.2601T>G | |
| 5 | g.13891077A>G | CA359199773 | DNAH5 | c.2476T>C (p.Phe826Leu) c.2431T>C (p.Phe811Leu) n.2683T>C c.2584T>C (p.Phe862Leu) c.1489T>C (p.Phe497Leu) c.1078T>C (p.Phe360Leu) n.2601T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13891077A>T | CA359199775 | DNAH5 | c.2476T>A (p.Phe826Ile) c.2431T>A (p.Phe811Ile) n.2683T>A c.2584T>A (p.Phe862Ile) c.1489T>A (p.Phe497Ile) c.1078T>A (p.Phe360Ile) n.2601T>A | |
| 5 | g.13891078C>A | CA359199776 | DNAH5 | c.2475G>T (p.Glu825Asp) c.2430G>T (p.Glu810Asp) n.2682G>T c.2583G>T (p.Glu861Asp) c.1488G>T (p.Glu496Asp) c.1077G>T (p.Glu359Asp) n.2600G>T | |
| 5 | g.13891078C>G | CA359199778 | DNAH5 | c.2475G>C (p.Glu825Asp) c.2430G>C (p.Glu810Asp) n.2682G>C c.2583G>C (p.Glu861Asp) c.1488G>C (p.Glu496Asp) c.1077G>C (p.Glu359Asp) n.2600G>C | |
| 5 | g.13891078C>T | CA443273951 | DNAH5 | c.2475G>A (p.Glu825=) c.2430G>A (p.Glu810=) n.2682G>A c.2583G>A (p.Glu861=) c.1488G>A (p.Glu496=) c.1077G>A (p.Glu359=) n.2600G>A | |
| 5 | g.13891079T>A | CA359199780 | DNAH5 | c.2474A>T (p.Glu825Val) c.2429A>T (p.Glu810Val) n.2681A>T c.2582A>T (p.Glu861Val) c.1487A>T (p.Glu496Val) c.1076A>T (p.Glu359Val) n.2599A>T | |
| 5 | g.13891079T>C | CA359199784 | DNAH5 | c.2474A>G (p.Glu825Gly) c.2429A>G (p.Glu810Gly) n.2681A>G c.2582A>G (p.Glu861Gly) c.1487A>G (p.Glu496Gly) c.1076A>G (p.Glu359Gly) n.2599A>G | gnomAD v4 |
| 5 | g.13891079T>G | CA359199781 | DNAH5 | c.2474A>C (p.Glu825Ala) c.2429A>C (p.Glu810Ala) n.2681A>C c.2582A>C (p.Glu861Ala) c.1487A>C (p.Glu496Ala) c.1076A>C (p.Glu359Ala) n.2599A>C | |
| 5 | g.13891080C>A | CA359199787 | DNAH5 | c.2473G>T (p.Glu825Ter) c.2428G>T (p.Glu810Ter) n.2680G>T c.2581G>T (p.Glu861Ter) c.1486G>T (p.Glu496Ter) c.1075G>T (p.Glu359Ter) n.2598G>T | |
| 5 | g.13891080C>G | CA359199789 | DNAH5 | c.2473G>C (p.Glu825Gln) c.2428G>C (p.Glu810Gln) n.2680G>C c.2581G>C (p.Glu861Gln) c.1486G>C (p.Glu496Gln) c.1075G>C (p.Glu359Gln) n.2598G>C | |
| 5 | g.13891080C>T | CA359199791 | DNAH5 | c.2473G>A (p.Glu825Lys) c.2428G>A (p.Glu810Lys) n.2680G>A c.2581G>A (p.Glu861Lys) c.1486G>A (p.Glu496Lys) c.1075G>A (p.Glu359Lys) n.2598G>A | |
| 5 | g.13891081A>C | CA359199793 | DNAH5 | c.2472T>G (p.Ile824Met) c.2427T>G (p.Ile809Met) n.2679T>G c.2580T>G (p.Ile860Met) c.1485T>G (p.Ile495Met) c.1074T>G (p.Ile358Met) n.2597T>G | |
| 5 | g.13891081A>G | CA443273953 | DNAH5 | c.2472T>C (p.Ile824=) c.2427T>C (p.Ile809=) n.2679T>C c.2580T>C (p.Ile860=) c.1485T>C (p.Ile495=) c.1074T>C (p.Ile358=) n.2597T>C | |
| 5 | g.13891081A>T | CA443273952 | DNAH5 | c.2472T>A (p.Ile824=) c.2427T>A (p.Ile809=) n.2679T>A c.2580T>A (p.Ile860=) c.1485T>A (p.Ile495=) c.1074T>A (p.Ile358=) n.2597T>A | |
| 5 | g.13891082A= | CA1528486427 | DNAH5 | c.2471T= (p.Ile824=) c.2426T= (p.Ile809=) n.2678T= c.2579T= (p.Ile860=) c.1484T= (p.Ile495=) c.1073T= (p.Ile358=) n.2596T= | |
| 5 | g.13891082A>C | CA359199795 | DNAH5 | c.2471T>G (p.Ile824Ser) c.2426T>G (p.Ile809Ser) n.2678T>G c.2579T>G (p.Ile860Ser) c.1484T>G (p.Ile495Ser) c.1073T>G (p.Ile358Ser) n.2596T>G | |
| 5 | g.13891082A>G | CA3204576 | DNAH5 | c.2471T>C (p.Ile824Thr) c.2426T>C (p.Ile809Thr) n.2678T>C c.2579T>C (p.Ile860Thr) c.1484T>C (p.Ile495Thr) c.1073T>C (p.Ile358Thr) n.2596T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13891082A>T | CA3204575 | DNAH5 | c.2471T>A (p.Ile824Asn) c.2426T>A (p.Ile809Asn) n.2678T>A c.2579T>A (p.Ile860Asn) c.1484T>A (p.Ile495Asn) c.1073T>A (p.Ile358Asn) n.2596T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13891083T>A | CA3204577 | DNAH5 | c.2470A>T (p.Ile824Phe) c.2425A>T (p.Ile809Phe) n.2677A>T c.2578A>T (p.Ile860Phe) c.1483A>T (p.Ile495Phe) c.1072A>T (p.Ile358Phe) n.2595A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13891083T>C | CA359199800 | DNAH5 | c.2470A>G (p.Ile824Val) c.2425A>G (p.Ile809Val) n.2677A>G c.2578A>G (p.Ile860Val) c.1483A>G (p.Ile495Val) c.1072A>G (p.Ile358Val) n.2595A>G | |
| 5 | g.13891083T>G | CA359199801 | DNAH5 | c.2470A>C (p.Ile824Leu) c.2425A>C (p.Ile809Leu) n.2677A>C c.2578A>C (p.Ile860Leu) c.1483A>C (p.Ile495Leu) c.1072A>C (p.Ile358Leu) n.2595A>C | |
| 5 | g.13891083T= | CA1528486428 | DNAH5 | c.2470A= (p.Ile824=) c.2425A= (p.Ile809=) n.2677A= c.2578A= (p.Ile860=) c.1483A= (p.Ile495=) c.1072A= (p.Ile358=) n.2595A= | |
| 5 | g.13891084C>A | CA359199802 | DNAH5 | c.2469G>T (p.Leu823Phe) c.2424G>T (p.Leu808Phe) n.2676G>T c.2577G>T (p.Leu859Phe) c.1482G>T (p.Leu494Phe) c.1071G>T (p.Leu357Phe) n.2594G>T | |
| 5 | g.13891084C>G | CA359199804 | DNAH5 | c.2469G>C (p.Leu823Phe) c.2424G>C (p.Leu808Phe) n.2676G>C c.2577G>C (p.Leu859Phe) c.1482G>C (p.Leu494Phe) c.1071G>C (p.Leu357Phe) n.2594G>C | |
| 5 | g.13891084C>T | CA443273955 | DNAH5 | c.2469G>A (p.Leu823=) c.2424G>A (p.Leu808=) n.2676G>A c.2577G>A (p.Leu859=) c.1482G>A (p.Leu494=) c.1071G>A (p.Leu357=) n.2594G>A | ClinVar COSMIC |
| 5 | g.13891085A>C | CA359199806 | DNAH5 | c.2468T>G (p.Leu823Trp) c.2423T>G (p.Leu808Trp) n.2675T>G c.2576T>G (p.Leu859Trp) c.1481T>G (p.Leu494Trp) c.1070T>G (p.Leu357Trp) n.2593T>G | |
| 5 | g.13891085A>G | CA359199808 | DNAH5 | c.2468T>C (p.Leu823Ser) c.2423T>C (p.Leu808Ser) n.2675T>C c.2576T>C (p.Leu859Ser) c.1481T>C (p.Leu494Ser) c.1070T>C (p.Leu357Ser) n.2593T>C | |
| 5 | g.13891085A>T | CA359199810 | DNAH5 | c.2468T>A (p.Leu823Ter) c.2423T>A (p.Leu808Ter) n.2675T>A c.2576T>A (p.Leu859Ter) c.1481T>A (p.Leu494Ter) c.1070T>A (p.Leu357Ter) n.2593T>A | |
| 5 | g.13891086A>C | CA359199812 | DNAH5 | c.2467T>G (p.Leu823Val) c.2422T>G (p.Leu808Val) n.2674T>G c.2575T>G (p.Leu859Val) c.1480T>G (p.Leu494Val) c.1069T>G (p.Leu357Val) n.2592T>G | |
| 5 | g.13891086A>G | CA443273956 | DNAH5 | c.2467T>C (p.Leu823=) c.2422T>C (p.Leu808=) n.2674T>C c.2575T>C (p.Leu859=) c.1480T>C (p.Leu494=) c.1069T>C (p.Leu357=) n.2592T>C | ClinVar dbSNP |