UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.13891086A>T | CA359199813 | DNAH5 | c.2467T>A (p.Leu823Met) c.2422T>A (p.Leu808Met) n.2674T>A c.2575T>A (p.Leu859Met) c.1480T>A (p.Leu494Met) c.1069T>A (p.Leu357Met) n.2592T>A | |
| 5 | g.13891087A>C | CA359199814 | DNAH5 | c.2466T>G (p.Asp822Glu) c.2421T>G (p.Asp807Glu) n.2673T>G c.2574T>G (p.Asp858Glu) c.1479T>G (p.Asp493Glu) c.1068T>G (p.Asp356Glu) n.2591T>G | |
| 5 | g.13891087A>G | CA443273957 | DNAH5 | c.2466T>C (p.Asp822=) c.2421T>C (p.Asp807=) n.2673T>C c.2574T>C (p.Asp858=) c.1479T>C (p.Asp493=) c.1068T>C (p.Asp356=) n.2591T>C | |
| 5 | g.13891087A>T | CA359199815 | DNAH5 | c.2466T>A (p.Asp822Glu) c.2421T>A (p.Asp807Glu) n.2673T>A c.2574T>A (p.Asp858Glu) c.1479T>A (p.Asp493Glu) c.1068T>A (p.Asp356Glu) n.2591T>A | |
| 5 | g.13891088T>A | CA359199818 | DNAH5 | c.2465A>T (p.Asp822Val) c.2420A>T (p.Asp807Val) n.2672A>T c.2573A>T (p.Asp858Val) c.1478A>T (p.Asp493Val) c.1067A>T (p.Asp356Val) n.2590A>T | |
| 5 | g.13891088T>C | CA359199816 | DNAH5 | c.2465A>G (p.Asp822Gly) c.2420A>G (p.Asp807Gly) n.2672A>G c.2573A>G (p.Asp858Gly) c.1478A>G (p.Asp493Gly) c.1067A>G (p.Asp356Gly) n.2590A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13891088T>G | CA359199817 | DNAH5 | c.2465A>C (p.Asp822Ala) c.2420A>C (p.Asp807Ala) n.2672A>C c.2573A>C (p.Asp858Ala) c.1478A>C (p.Asp493Ala) c.1067A>C (p.Asp356Ala) n.2590A>C | |
| 5 | g.13891088T= | CA1528486429 | DNAH5 | c.2465A= (p.Asp822=) c.2420A= (p.Asp807=) n.2672A= c.2573A= (p.Asp858=) c.1478A= (p.Asp493=) c.1067A= (p.Asp356=) n.2590A= | |
| 5 | g.13891089C>A | CA359199820 | DNAH5 | c.2464G>T (p.Asp822Tyr) c.2419G>T (p.Asp807Tyr) n.2671G>T c.2572G>T (p.Asp858Tyr) c.1477G>T (p.Asp493Tyr) c.1066G>T (p.Asp356Tyr) n.2589G>T | dbSNP gnomAD v4 |
| 5 | g.13891089C= | CA1528486430 | DNAH5 | c.2464G= (p.Asp822=) c.2419G= (p.Asp807=) n.2671G= c.2572G= (p.Asp858=) c.1477G= (p.Asp493=) c.1066G= (p.Asp356=) n.2589G= | |
| 5 | g.13891089C>G | CA359199822 | DNAH5 | c.2464G>C (p.Asp822His) c.2419G>C (p.Asp807His) n.2671G>C c.2572G>C (p.Asp858His) c.1477G>C (p.Asp493His) c.1066G>C (p.Asp356His) n.2589G>C | |
| 5 | g.13891089C>T | CA359199829 | DNAH5 | c.2464G>A (p.Asp822Asn) c.2419G>A (p.Asp807Asn) n.2671G>A c.2572G>A (p.Asp858Asn) c.1477G>A (p.Asp493Asn) c.1066G>A (p.Asp356Asn) n.2589G>A | |
| 5 | g.13891090A= | CA1528486431 | DNAH5 | c.2463T= (p.Asn821=) c.2418T= (p.Asn806=) n.2670T= c.2571T= (p.Asn857=) c.1476T= (p.Asn492=) c.1065T= (p.Asn355=) n.2588T= | |
| 5 | g.13891090A>C | CA3204578 | DNAH5 | c.2463T>G (p.Asn821Lys) c.2418T>G (p.Asn806Lys) n.2670T>G c.2571T>G (p.Asn857Lys) c.1476T>G (p.Asn492Lys) c.1065T>G (p.Asn355Lys) n.2588T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13891090A>G | CA443273958 | DNAH5 | c.2463T>C (p.Asn821=) c.2418T>C (p.Asn806=) n.2670T>C c.2571T>C (p.Asn857=) c.1476T>C (p.Asn492=) c.1065T>C (p.Asn355=) n.2588T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13891090A>T | CA359199832 | DNAH5 | c.2463T>A (p.Asn821Lys) c.2418T>A (p.Asn806Lys) n.2670T>A c.2571T>A (p.Asn857Lys) c.1476T>A (p.Asn492Lys) c.1065T>A (p.Asn355Lys) n.2588T>A | dbSNP gnomAD v2 |
| 5 | g.13891091T>A | CA359199836 | DNAH5 | c.2462A>T (p.Asn821Ile) c.2417A>T (p.Asn806Ile) n.2669A>T c.2570A>T (p.Asn857Ile) c.1475A>T (p.Asn492Ile) c.1064A>T (p.Asn355Ile) n.2587A>T | |
| 5 | g.13891091T>C | CA3204579 | DNAH5 | c.2462A>G (p.Asn821Ser) c.2417A>G (p.Asn806Ser) n.2669A>G c.2570A>G (p.Asn857Ser) c.1475A>G (p.Asn492Ser) c.1064A>G (p.Asn355Ser) n.2587A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13891091T>G | CA359199834 | DNAH5 | c.2462A>C (p.Asn821Thr) c.2417A>C (p.Asn806Thr) n.2669A>C c.2570A>C (p.Asn857Thr) c.1475A>C (p.Asn492Thr) c.1064A>C (p.Asn355Thr) n.2587A>C | |
| 5 | g.13891091T= | CA1528486432 | DNAH5 | c.2462A= (p.Asn821=) c.2417A= (p.Asn806=) n.2669A= c.2570A= (p.Asn857=) c.1475A= (p.Asn492=) c.1064A= (p.Asn355=) n.2587A= | |
| 5 | g.13891092T>A | CA359199838 | DNAH5 | c.2461A>T (p.Asn821Tyr) c.2416A>T (p.Asn806Tyr) n.2668A>T c.2569A>T (p.Asn857Tyr) c.1474A>T (p.Asn492Tyr) c.1063A>T (p.Asn355Tyr) n.2586A>T | |
| 5 | g.13891092T>C | CA3204580 | DNAH5 | c.2461A>G (p.Asn821Asp) c.2416A>G (p.Asn806Asp) n.2668A>G c.2569A>G (p.Asn857Asp) c.1474A>G (p.Asn492Asp) c.1063A>G (p.Asn355Asp) n.2586A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |