WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.13890987G>T | CA359198908 | DNAH5 | c.2566C>A (p.Gln856Lys) c.2521C>A (p.Gln841Lys) n.2773C>A c.2674C>A (p.Gln892Lys) c.1579C>A (p.Gln527Lys) c.1168C>A (p.Gln390Lys) n.2691C>A | |
| 5 | g.13890988G>A | CA443273887 | DNAH5 | c.2565C>T (p.Leu855=) c.2520C>T (p.Leu840=) n.2772C>T c.2673C>T (p.Leu891=) c.1578C>T (p.Leu526=) c.1167C>T (p.Leu389=) n.2690C>T | |
| 5 | g.13890988G>C | CA443273888 | DNAH5 | c.2565C>G (p.Leu855=) c.2520C>G (p.Leu840=) n.2772C>G c.2673C>G (p.Leu891=) c.1578C>G (p.Leu526=) c.1167C>G (p.Leu389=) n.2690C>G | gnomAD v4 |
| 5 | g.13890988G>T | CA443273889 | DNAH5 | c.2565C>A (p.Leu855=) c.2520C>A (p.Leu840=) n.2772C>A c.2673C>A (p.Leu891=) c.1578C>A (p.Leu526=) c.1167C>A (p.Leu389=) n.2690C>A | gnomAD v4 |
| 5 | g.13890988_13890996delinsTT | CA2580072171 | DNAH5 | c.2557_2565delinsAA (p.Glu853AsnfsTer3) c.2512_2520delinsAA (p.Glu838AsnfsTer3) n.2764_2772delinsAA c.2665_2673delinsAA (p.Glu889AsnfsTer3) c.1570_1578delinsAA (p.Glu524AsnfsTer3) c.1159_1167delinsAA (p.Glu387AsnfsTer3) n.2682_2690delinsAA | ClinVar |
| 5 | g.13890989A>C | CA359198918 | DNAH5 | c.2564T>G (p.Leu855Arg) c.2519T>G (p.Leu840Arg) n.2771T>G c.2672T>G (p.Leu891Arg) c.1577T>G (p.Leu526Arg) c.1166T>G (p.Leu389Arg) n.2689T>G | |
| 5 | g.13890989A>G | CA359198916 | DNAH5 | c.2564T>C (p.Leu855Pro) c.2519T>C (p.Leu840Pro) n.2771T>C c.2672T>C (p.Leu891Pro) c.1577T>C (p.Leu526Pro) c.1166T>C (p.Leu389Pro) n.2689T>C | |
| 5 | g.13890989A>T | CA359198912 | DNAH5 | c.2564T>A (p.Leu855His) c.2519T>A (p.Leu840His) n.2771T>A c.2672T>A (p.Leu891His) c.1577T>A (p.Leu526His) c.1166T>A (p.Leu389His) n.2689T>A | |
| 5 | g.13890990G>A | CA3204555 | DNAH5 | c.2563C>T (p.Leu855Phe) c.2518C>T (p.Leu840Phe) n.2770C>T c.2671C>T (p.Leu891Phe) c.1576C>T (p.Leu526Phe) c.1165C>T (p.Leu389Phe) n.2688C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13890990G>C | CA359198928 | DNAH5 | c.2563C>G (p.Leu855Val) c.2518C>G (p.Leu840Val) n.2770C>G c.2671C>G (p.Leu891Val) c.1576C>G (p.Leu526Val) c.1165C>G (p.Leu389Val) n.2688C>G | |
| 5 | g.13890990G= | CA1528486387 | DNAH5 | c.2563C= (p.Leu855=) c.2518C= (p.Leu840=) n.2770C= c.2671C= (p.Leu891=) c.1576C= (p.Leu526=) c.1165C= (p.Leu389=) n.2688C= | |
| 5 | g.13890990G>T | CA359198930 | DNAH5 | c.2563C>A (p.Leu855Ile) c.2518C>A (p.Leu840Ile) n.2770C>A c.2671C>A (p.Leu891Ile) c.1576C>A (p.Leu526Ile) c.1165C>A (p.Leu389Ile) n.2688C>A | |
| 5 | g.13890991A>C | CA359198934 | DNAH5 | c.2562T>G (p.Phe854Leu) c.2517T>G (p.Phe839Leu) n.2769T>G c.2670T>G (p.Phe890Leu) c.1575T>G (p.Phe525Leu) c.1164T>G (p.Phe388Leu) n.2687T>G | |
| 5 | g.13890991A>G | CA443273890 | DNAH5 | c.2562T>C (p.Phe854=) c.2517T>C (p.Phe839=) n.2769T>C c.2670T>C (p.Phe890=) c.1575T>C (p.Phe525=) c.1164T>C (p.Phe388=) n.2687T>C |