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 |
|---|---|---|---|---|---|
| 18 | g.53391776T>A | CA503875771 | DCC | c.2577T>A (p.Ala859=) c.2257-5532T>A c.2508T>A (p.Ala836=) c.1482T>A (p.Ala494=) c.1542T>A (p.Ala514=) c.2517T>A (p.Ala839=) | |
| 18 | g.53391776T>C | CA503875773 | DCC | c.2577T>C (p.Ala859=) c.2257-5532T>C c.2508T>C (p.Ala836=) c.1482T>C (p.Ala494=) c.1542T>C (p.Ala514=) c.2517T>C (p.Ala839=) | |
| 18 | g.53391776T>G | CA503875776 | DCC | c.2577T>G (p.Ala859=) c.2257-5532T>G c.2508T>G (p.Ala836=) c.1482T>G (p.Ala494=) c.1542T>G (p.Ala514=) c.2517T>G (p.Ala839=) | |
| 18 | g.53391777G>A | CA402472026 | DCC | c.2578G>A (p.Val860Met) c.2257-5531G>A c.2509G>A (p.Val837Met) c.1483G>A (p.Val495Met) c.1543G>A (p.Val515Met) c.2518G>A (p.Val840Met) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.53391777G>C | CA402472027 | DCC | c.2578G>C (p.Val860Leu) c.2257-5531G>C c.2509G>C (p.Val837Leu) c.1483G>C (p.Val495Leu) c.1543G>C (p.Val515Leu) c.2518G>C (p.Val840Leu) | |
| 18 | g.53391777G= | CA2304132167 | DCC | c.2578G= (p.Val860=) c.2257-5531G= c.2509G= (p.Val837=) c.1483G= (p.Val495=) c.1543G= (p.Val515=) c.2518G= (p.Val840=) | |
| 18 | g.53391777G>T | CA402472028 | DCC | c.2578G>T (p.Val860Leu) c.2257-5531G>T c.2509G>T (p.Val837Leu) c.1483G>T (p.Val495Leu) c.1543G>T (p.Val515Leu) c.2518G>T (p.Val840Leu) | |
| 18 | g.53391778T>A | CA402472029 | DCC | c.2579T>A (p.Val860Glu) c.2257-5530T>A c.2510T>A (p.Val837Glu) c.1484T>A (p.Val495Glu) c.1544T>A (p.Val515Glu) c.2519T>A (p.Val840Glu) | |
| 18 | g.53391778T>C | CA8967229 | DCC | c.2579T>C (p.Val860Ala) c.2257-5530T>C c.2510T>C (p.Val837Ala) c.1484T>C (p.Val495Ala) c.1544T>C (p.Val515Ala) c.2519T>C (p.Val840Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.53391778T>G | CA402472030 | DCC | c.2579T>G (p.Val860Gly) c.2257-5530T>G c.2510T>G (p.Val837Gly) c.1484T>G (p.Val495Gly) c.1544T>G (p.Val515Gly) c.2519T>G (p.Val840Gly) | |
| 18 | g.53391778T= | CA2304132168 | DCC | c.2579T= (p.Val860=) c.2257-5530T= c.2510T= (p.Val837=) c.1484T= (p.Val495=) c.1544T= (p.Val515=) c.2519T= (p.Val840=) | |
| 18 | g.53391779G>A | CA503875787 | DCC | c.2580G>A (p.Val860=) c.2257-5529G>A c.2511G>A (p.Val837=) c.1485G>A (p.Val495=) c.1545G>A (p.Val515=) c.2520G>A (p.Val840=) | |
| 18 | g.53391779G>C | CA503875789 | DCC | c.2580G>C (p.Val860=) c.2257-5529G>C c.2511G>C (p.Val837=) c.1485G>C (p.Val495=) c.1545G>C (p.Val515=) c.2520G>C (p.Val840=) | |
| 18 | g.53391779G>T | CA503875790 | DCC | c.2580G>T (p.Val860=) c.2257-5529G>T c.2511G>T (p.Val837=) c.1485G>T (p.Val495=) c.1545G>T (p.Val515=) c.2520G>T (p.Val840=) | |
| 18 | g.53391780A>C | CA503875792 | DCC | c.2581A>C (p.Arg861=) c.2257-5528A>C c.2512A>C (p.Arg838=) c.1486A>C (p.Arg496=) c.1546A>C (p.Arg516=) c.2521A>C (p.Arg841=) | |
| 18 | g.53391780A>G | CA402472031 | DCC | c.2581A>G (p.Arg861Gly) c.2257-5528A>G c.2512A>G (p.Arg838Gly) c.1486A>G (p.Arg496Gly) c.1546A>G (p.Arg516Gly) c.2521A>G (p.Arg841Gly) | |
| 18 | g.53391780A>T | CA402472032 | DCC | c.2581A>T (p.Arg861Trp) c.2257-5528A>T c.2512A>T (p.Arg838Trp) c.1486A>T (p.Arg496Trp) c.1546A>T (p.Arg516Trp) c.2521A>T (p.Arg841Trp) | |
| 18 | g.53391781G>A | CA402472033 | DCC | c.2582G>A (p.Arg861Lys) c.2257-5527G>A c.2513G>A (p.Arg838Lys) c.1487G>A (p.Arg496Lys) c.1547G>A (p.Arg516Lys) c.2522G>A (p.Arg841Lys) | |
| 18 | g.53391781G>C | CA402472034 | DCC | c.2582G>C (p.Arg861Thr) c.2257-5527G>C c.2513G>C (p.Arg838Thr) c.1487G>C (p.Arg496Thr) c.1547G>C (p.Arg516Thr) c.2522G>C (p.Arg841Thr) | gnomAD v4 |
| 18 | g.53391781G>T | CA402472035 | DCC | c.2582G>T (p.Arg861Met) c.2257-5527G>T c.2513G>T (p.Arg838Met) c.1487G>T (p.Arg496Met) c.1547G>T (p.Arg516Met) c.2522G>T (p.Arg841Met) | |
| 18 | g.53391782G>A | CA503875798 | DCC | c.2583G>A (p.Arg861=) c.2257-5526G>A c.2514G>A (p.Arg838=) c.1488G>A (p.Arg496=) c.1548G>A (p.Arg516=) c.2523G>A (p.Arg841=) | COSMIC COSMIC |
| 18 | g.53391782G>C | CA402472037 | DCC | c.2583G>C (p.Arg861Ser) c.2257-5526G>C c.2514G>C (p.Arg838Ser) c.1488G>C (p.Arg496Ser) c.1548G>C (p.Arg516Ser) c.2523G>C (p.Arg841Ser) | dbSNP |
| 18 | g.53391782G= | CA2304132169 | DCC | c.2583G= (p.Arg861=) c.2257-5526G= c.2514G= (p.Arg838=) c.1488G= (p.Arg496=) c.1548G= (p.Arg516=) c.2523G= (p.Arg841=) | |
| 18 | g.53391782G>T | CA402472036 | DCC | c.2583G>T (p.Arg861Ser) c.2257-5526G>T c.2514G>T (p.Arg838Ser) c.1488G>T (p.Arg496Ser) c.1548G>T (p.Arg516Ser) c.2523G>T (p.Arg841Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.53391783G>A | CA402472038 | DCC | c.2584G>A (p.Val862Ile) c.2257-5525G>A c.2515G>A (p.Val839Ile) c.1489G>A (p.Val497Ile) c.1549G>A (p.Val517Ile) c.2524G>A (p.Val842Ile) | gnomAD v4 |
| 18 | g.53391783G>C | CA402472039 | DCC | c.2584G>C (p.Val862Leu) c.2257-5525G>C c.2515G>C (p.Val839Leu) c.1489G>C (p.Val497Leu) c.1549G>C (p.Val517Leu) c.2524G>C (p.Val842Leu) | |
| 18 | g.53391783G>T | CA402472040 | DCC | c.2584G>T (p.Val862Phe) c.2257-5525G>T c.2515G>T (p.Val839Phe) c.1489G>T (p.Val497Phe) c.1549G>T (p.Val517Phe) c.2524G>T (p.Val842Phe) | |
| 18 | g.53391784T>A | CA402472041 | DCC | c.2585T>A (p.Val862Asp) c.2257-5524T>A c.2516T>A (p.Val839Asp) c.1T>A c.1490T>A (p.Val497Asp) c.1550T>A (p.Val517Asp) c.2525T>A (p.Val842Asp) | |
| 18 | g.53391784T>C | CA402472042 | DCC | c.2585T>C (p.Val862Ala) c.2257-5524T>C c.2516T>C (p.Val839Ala) c.1T>C c.1490T>C (p.Val497Ala) c.1550T>C (p.Val517Ala) c.2525T>C (p.Val842Ala) | |
| 18 | g.53391784T>G | CA402472043 | DCC | c.2585T>G (p.Val862Gly) c.2257-5524T>G c.2516T>G (p.Val839Gly) c.1T>G c.1490T>G (p.Val497Gly) c.1550T>G (p.Val517Gly) c.2525T>G (p.Val842Gly) | |
| 18 | g.53391784_53391789del | CA2576506862 | DCC | c.2585_2590del (p.Val862_Trp864delinsGly) c.2257-5524_2257-5519del c.2516_2521del (p.Val839_Trp841delinsGly) c.1_6del c.1490_1495del (p.Val497_Trp499delinsGly) c.1550_1555del (p.Val517_Trp519delinsGly) c.2525_2530del (p.Val842_Trp844delinsGly) | gnomAD v4 |
| 18 | g.53391785C>A | CA503875811 | DCC | c.2586C>A (p.Val862=) c.2257-5523C>A c.2517C>A (p.Val839=) c.2C>A c.1491C>A (p.Val497=) c.1551C>A (p.Val517=) c.2526C>A (p.Val842=) | |
| 18 | g.53391785C>G | CA503875814 | DCC | c.2586C>G (p.Val862=) c.2257-5523C>G c.2517C>G (p.Val839=) c.2C>G c.1491C>G (p.Val497=) c.1551C>G (p.Val517=) c.2526C>G (p.Val842=) | |
| 18 | g.53391785C>T | CA503875817 | DCC | c.2586C>T (p.Val862=) c.2257-5523C>T c.2517C>T (p.Val839=) c.2C>T c.1491C>T (p.Val497=) c.1551C>T (p.Val517=) c.2526C>T (p.Val842=) | |
| 18 | g.53391786A>C | CA402472044 | DCC | c.2587A>C (p.Ser863Arg) c.2257-5522A>C c.2518A>C (p.Ser840Arg) c.3A>C c.1492A>C (p.Ser498Arg) c.1552A>C (p.Ser518Arg) c.2527A>C (p.Ser843Arg) | |
| 18 | g.53391786A>G | CA402472045 | DCC | c.2587A>G (p.Ser863Gly) c.2257-5522A>G c.2518A>G (p.Ser840Gly) c.3A>G c.1492A>G (p.Ser498Gly) c.1552A>G (p.Ser518Gly) c.2527A>G (p.Ser843Gly) | |
| 18 | g.53391786A>T | CA402472046 | DCC | c.2587A>T (p.Ser863Cys) c.2257-5522A>T c.2518A>T (p.Ser840Cys) c.3A>T c.1492A>T (p.Ser498Cys) c.1552A>T (p.Ser518Cys) c.2527A>T (p.Ser843Cys) | |
| 18 | g.53391787G>A | CA402472047 | DCC | c.2588G>A (p.Ser863Asn) c.2257-5521G>A c.2519G>A (p.Ser840Asn) c.4G>A c.1493G>A (p.Ser498Asn) c.1553G>A (p.Ser518Asn) c.2528G>A (p.Ser843Asn) | |
| 18 | g.53391787G>C | CA402472048 | DCC | c.2588G>C (p.Ser863Thr) c.2257-5521G>C c.2519G>C (p.Ser840Thr) c.4G>C c.1493G>C (p.Ser498Thr) c.1553G>C (p.Ser518Thr) c.2528G>C (p.Ser843Thr) | dbSNP |
| 18 | g.53391787G= | CA2304132170 | DCC | c.2588G= (p.Ser863=) c.2257-5521G= c.2519G= (p.Ser840=) c.4G= c.1493G= (p.Ser498=) c.1553G= (p.Ser518=) c.2528G= (p.Ser843=) | |
| 18 | g.53391787G>T | CA300692992 | DCC | c.2588G>T (p.Ser863Ile) c.2257-5521G>T c.2519G>T (p.Ser840Ile) c.4G>T c.1493G>T (p.Ser498Ile) c.1553G>T (p.Ser518Ile) c.2528G>T (p.Ser843Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.53391788C>A | CA402472050 | DCC | c.2589C>A (p.Ser863Arg) c.2257-5520C>A c.2520C>A (p.Ser840Arg) c.5C>A c.1494C>A (p.Ser498Arg) c.1554C>A (p.Ser518Arg) c.2529C>A (p.Ser843Arg) | |
| 18 | g.53391788C= | CA2304132171 | DCC | c.2589C= (p.Ser863=) c.2257-5520C= c.2520C= (p.Ser840=) c.5C= c.1494C= (p.Ser498=) c.1554C= (p.Ser518=) c.2529C= (p.Ser843=) | |
| 18 | g.53391788C>G | CA402472049 | DCC | c.2589C>G (p.Ser863Arg) c.2257-5520C>G c.2520C>G (p.Ser840Arg) c.5C>G c.1494C>G (p.Ser498Arg) c.1554C>G (p.Ser518Arg) c.2529C>G (p.Ser843Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.53391788C>T | CA503875829 | DCC | c.2589C>T (p.Ser863=) c.2257-5520C>T c.2520C>T (p.Ser840=) c.5C>T c.1494C>T (p.Ser498=) c.1554C>T (p.Ser518=) c.2529C>T (p.Ser843=) | |
| 18 | g.53391789T>A | CA402472051 | DCC | c.2590T>A (p.Trp864Arg) c.2257-5519T>A c.2521T>A (p.Trp841Arg) c.6T>A c.1495T>A (p.Trp499Arg) c.1555T>A (p.Trp519Arg) c.2530T>A (p.Trp844Arg) | |
| 18 | g.53391789T>C | CA402472052 | DCC | c.2590T>C (p.Trp864Arg) c.2257-5519T>C c.2521T>C (p.Trp841Arg) c.6T>C c.1495T>C (p.Trp499Arg) c.1555T>C (p.Trp519Arg) c.2530T>C (p.Trp844Arg) | |
| 18 | g.53391789T>G | CA402472053 | DCC | c.2590T>G (p.Trp864Gly) c.2257-5519T>G c.2521T>G (p.Trp841Gly) c.6T>G c.1495T>G (p.Trp499Gly) c.1555T>G (p.Trp519Gly) c.2530T>G (p.Trp844Gly) | |
| 18 | g.53391790G>A | CA402472054 | DCC | c.2591G>A (p.Trp864Ter) c.2257-5518G>A c.2522G>A (p.Trp841Ter) c.7G>A c.1496G>A (p.Trp499Ter) c.1556G>A (p.Trp519Ter) c.2531G>A (p.Trp844Ter) | |
| 18 | g.53391790G>C | CA402472055 | DCC | c.2591G>C (p.Trp864Ser) c.2257-5518G>C c.2522G>C (p.Trp841Ser) c.7G>C c.1496G>C (p.Trp499Ser) c.1556G>C (p.Trp519Ser) c.2531G>C (p.Trp844Ser) |