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 |
|---|---|---|---|---|---|
| 7 | g.107919046_107919053delinsTTGGAATA | CA1732860726 | DLD | c.1411_1418delinsTTGGAATA (p.Leu471=) c.*1085_*1092delinsTTGGAATA (n.*1085_*1092delinsTTGGAATA) c.1267_1274delinsTTGGAATA (p.Leu423=) c.1342_1349delinsTTGGAATA (p.Leu448=) c.1114_1121delinsTTGGAATA (p.Leu372=) | |
| 7 | g.107919051_107919057del | CA831210899 | DLD | c.1416_1422del (p.Tyr473HisfsTer6) c.*1090_*1096del (n.*1090_*1096del) c.1272_1278del (p.Tyr425HisfsTer6) c.1347_1353del (p.Tyr450HisfsTer6) c.1119_1125del (p.Tyr374HisfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919052T>A | CA368859465 | DLD | c.1417T>A (p.Tyr473Asn) c.*1091T>A (n.*1091T>A) c.1273T>A (p.Tyr425Asn) c.1348T>A (p.Tyr450Asn) c.1120T>A (p.Tyr374Asn) | |
| 7 | g.107919052T>C | CA368859466 | DLD | c.1417T>C (p.Tyr473His) c.*1091T>C (n.*1091T>C) c.1273T>C (p.Tyr425His) c.1348T>C (p.Tyr450His) c.1120T>C (p.Tyr374His) | |
| 7 | g.107919052T>G | CA4434703 | DLD | c.1417T>G (p.Tyr473Asp) c.*1091T>G (n.*1091T>G) c.1273T>G (p.Tyr425Asp) c.1348T>G (p.Tyr450Asp) c.1120T>G (p.Tyr374Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919052T= | CA1732860727 | DLD | c.1417T= (p.Tyr473=) c.*1091T= (n.*1091T=) c.1273T= (p.Tyr425=) c.1348T= (p.Tyr450=) c.1120T= (p.Tyr374=) | |
| 7 | g.107919053A= | CA1732860728 | DLD | c.1418A= (p.Tyr473=) c.*1092A= (n.*1092A=) c.1274A= (p.Tyr425=) c.1349A= (p.Tyr450=) c.1121A= (p.Tyr374=) | |
| 7 | g.107919053A>C | CA368859467 | DLD | c.1418A>C (p.Tyr473Ser) c.*1092A>C (n.*1092A>C) c.1274A>C (p.Tyr425Ser) c.1349A>C (p.Tyr450Ser) c.1121A>C (p.Tyr374Ser) | |
| 7 | g.107919053A>G | CA368859468 | DLD | c.1418A>G (p.Tyr473Cys) c.*1092A>G (n.*1092A>G) c.1274A>G (p.Tyr425Cys) c.1349A>G (p.Tyr450Cys) c.1121A>G (p.Tyr374Cys) | dbSNP gnomAD v4 |
| 7 | g.107919053A>T | CA368859469 | DLD | c.1418A>T (p.Tyr473Phe) c.*1092A>T (n.*1092A>T) c.1274A>T (p.Tyr425Phe) c.1349A>T (p.Tyr450Phe) c.1121A>T (p.Tyr374Phe) | |
| 7 | g.107919054T>A | CA368859470 | DLD | c.1419T>A (p.Tyr473Ter) c.*1093T>A (n.*1093T>A) c.1275T>A (p.Tyr425Ter) c.1350T>A (p.Tyr450Ter) c.1122T>A (p.Tyr374Ter) | |
| 7 | g.107919054T>C | CA457109804 | DLD | c.1419T>C (p.Tyr473=) c.*1093T>C (n.*1093T>C) c.1275T>C (p.Tyr425=) c.1350T>C (p.Tyr450=) c.1122T>C (p.Tyr374=) | gnomAD v4 |
| 7 | g.107919054T>G | CA368859471 | DLD | c.1419T>G (p.Tyr473Ter) c.*1093T>G (n.*1093T>G) c.1275T>G (p.Tyr425Ter) c.1350T>G (p.Tyr450Ter) c.1122T>G (p.Tyr374Ter) | dbSNP |
| 7 | g.107919054T= | CA1732860730 | DLD | c.1419T= (p.Tyr473=) c.*1093T= (n.*1093T=) c.1275T= (p.Tyr425=) c.1350T= (p.Tyr450=) c.1122T= (p.Tyr374=) | |
| 7 | g.107919054_107919055del | CA913111802 | DLD | c.1419_1420del (p.Tyr473Ter) c.*1093_*1094del (n.*1093_*1094del) c.1275_1276del (p.Tyr425Ter) c.1350_1351del (p.Tyr450Ter) c.1122_1123del (p.Tyr374Ter) | |
| 7 | g.107919054_107919055delinsTG | CA1732860729 | DLD | c.1419_1420delinsTG (p.Tyr473=) c.*1093_*1094delinsTG (n.*1093_*1094delinsTG) c.1275_1276delinsTG (p.Tyr425=) c.1350_1351delinsTG (p.Tyr450=) c.1122_1123delinsTG (p.Tyr374=) | |
| 7 | g.107919055G>A | CA368859472 | DLD | c.1420G>A (p.Gly474Arg) c.*1094G>A (n.*1094G>A) c.1276G>A (p.Gly426Arg) c.1351G>A (p.Gly451Arg) c.1123G>A (p.Gly375Arg) | |
| 7 | g.107919055G>C | CA368859473 | DLD | c.1420G>C (p.Gly474Arg) c.*1094G>C (n.*1094G>C) c.1276G>C (p.Gly426Arg) c.1351G>C (p.Gly451Arg) c.1123G>C (p.Gly375Arg) | |
| 7 | g.107919055G>T | CA368859474 | DLD | c.1420G>T (p.Gly474Ter) c.*1094G>T (n.*1094G>T) c.1276G>T (p.Gly426Ter) c.1351G>T (p.Gly451Ter) c.1123G>T (p.Gly375Ter) | |
| 7 | g.107919056del | CA658821776 | DLD | c.1421del (p.Gly474GlufsTer7) c.*1095del (n.*1095del) c.1277del (p.Gly426GlufsTer7) c.1352del (p.Gly451GlufsTer7) c.1124del (p.Gly375GlufsTer7) | ClinVar dbSNP |
| 7 | g.107919056G>A | CA368859477 | DLD | c.1421G>A (p.Gly474Glu) c.*1095G>A (n.*1095G>A) c.1277G>A (p.Gly426Glu) c.1352G>A (p.Gly451Glu) c.1124G>A (p.Gly375Glu) | |
| 7 | g.107919056G>C | CA368859476 | DLD | c.1421G>C (p.Gly474Ala) c.*1095G>C (n.*1095G>C) c.1277G>C (p.Gly426Ala) c.1352G>C (p.Gly451Ala) c.1124G>C (p.Gly375Ala) | |
| 7 | g.107919056G>T | CA368859475 | DLD | c.1421G>T (p.Gly474Val) c.*1095G>T (n.*1095G>T) c.1277G>T (p.Gly426Val) c.1352G>T (p.Gly451Val) c.1124G>T (p.Gly375Val) | |
| 7 | g.107919057A= | CA1732860731 | DLD | c.1422A= (p.Gly474=) c.*1096A= (n.*1096A=) c.1278A= (p.Gly426=) c.1353A= (p.Gly451=) c.1125A= (p.Gly375=) | |
| 7 | g.107919057A>C | CA290613 | DLD | c.1422A>C (p.Gly474=) c.*1096A>C (n.*1096A>C) c.1278A>C (p.Gly426=) c.1353A>C (p.Gly451=) c.1125A>C (p.Gly375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919057A>G | CA457109805 | DLD | c.1422A>G (p.Gly474=) c.*1096A>G (n.*1096A>G) c.1278A>G (p.Gly426=) c.1353A>G (p.Gly451=) c.1125A>G (p.Gly375=) | ClinVar |
| 7 | g.107919057A>T | CA457109806 | DLD | c.1422A>T (p.Gly474=) c.*1096A>T (n.*1096A>T) c.1278A>T (p.Gly426=) c.1353A>T (p.Gly451=) c.1125A>T (p.Gly375=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919058G>A | CA368859480 | DLD | c.1423G>A (p.Ala475Thr) c.*1097G>A (n.*1097G>A) c.1279G>A (p.Ala427Thr) c.1354G>A (p.Ala452Thr) c.1126G>A (p.Ala376Thr) | COSMIC COSMIC |
| 7 | g.107919058G>C | CA368859478 | DLD | c.1423G>C (p.Ala475Pro) c.*1097G>C (n.*1097G>C) c.1279G>C (p.Ala427Pro) c.1354G>C (p.Ala452Pro) c.1126G>C (p.Ala376Pro) | |
| 7 | g.107919058G>T | CA368859479 | DLD | c.1423G>T (p.Ala475Ser) c.*1097G>T (n.*1097G>T) c.1279G>T (p.Ala427Ser) c.1354G>T (p.Ala452Ser) c.1126G>T (p.Ala376Ser) | |
| 7 | g.107919059C>A | CA368859481 | DLD | c.1424C>A (p.Ala475Glu) c.*1098C>A (n.*1098C>A) c.1280C>A (p.Ala427Glu) c.1355C>A (p.Ala452Glu) c.1127C>A (p.Ala376Glu) | |
| 7 | g.107919059C= | CA1732860732 | DLD | c.1424C= (p.Ala475=) c.*1098C= (n.*1098C=) c.1280C= (p.Ala427=) c.1355C= (p.Ala452=) c.1127C= (p.Ala376=) | |
| 7 | g.107919059C>G | CA368859482 | DLD | c.1424C>G (p.Ala475Gly) c.*1098C>G (n.*1098C>G) c.1280C>G (p.Ala427Gly) c.1355C>G (p.Ala452Gly) c.1127C>G (p.Ala376Gly) | |
| 7 | g.107919059C>T | CA368859483 | DLD | c.1424C>T (p.Ala475Val) c.*1098C>T (n.*1098C>T) c.1280C>T (p.Ala427Val) c.1355C>T (p.Ala452Val) c.1127C>T (p.Ala376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A= | CA1732860733 | DLD | c.1425A= (p.Ala475=) c.*1099A= (n.*1099A=) c.1281A= (p.Ala427=) c.1356A= (p.Ala452=) c.1128A= (p.Ala376=) | |
| 7 | g.107919060A>C | CA457109810 | DLD | c.1425A>C (p.Ala475=) c.*1099A>C (n.*1099A>C) c.1281A>C (p.Ala427=) c.1356A>C (p.Ala452=) c.1128A>C (p.Ala376=) | |
| 7 | g.107919060A>G | CA457109808 | DLD | c.1425A>G (p.Ala475=) c.*1099A>G (n.*1099A>G) c.1281A>G (p.Ala427=) c.1356A>G (p.Ala452=) c.1128A>G (p.Ala376=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A>T | CA457109807 | DLD | c.1425A>T (p.Ala475=) c.*1099A>T (n.*1099A>T) c.1281A>T (p.Ala427=) c.1356A>T (p.Ala452=) c.1128A>T (p.Ala376=) | |
| 7 | g.107919061T>A | CA368859486 | DLD | c.1426T>A (p.Ser476Thr) c.*1100T>A (n.*1100T>A) c.1282T>A (p.Ser428Thr) c.1357T>A (p.Ser453Thr) c.1129T>A (p.Ser377Thr) | |
| 7 | g.107919061T>C | CA368859485 | DLD | c.1426T>C (p.Ser476Pro) c.*1100T>C (n.*1100T>C) c.1282T>C (p.Ser428Pro) c.1357T>C (p.Ser453Pro) c.1129T>C (p.Ser377Pro) | |
| 7 | g.107919061T>G | CA368859484 | DLD | c.1426T>G (p.Ser476Ala) c.*1100T>G (n.*1100T>G) c.1282T>G (p.Ser428Ala) c.1357T>G (p.Ser453Ala) c.1129T>G (p.Ser377Ala) | |
| 7 | g.107919062C>A | CA4434705 | DLD | c.1427C>A (p.Ser476Tyr) c.*1101C>A (n.*1101C>A) c.1283C>A (p.Ser428Tyr) c.1358C>A (p.Ser453Tyr) c.1130C>A (p.Ser377Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919062C= | CA1732860734 | DLD | c.1427C= (p.Ser476=) c.*1101C= (n.*1101C=) c.1283C= (p.Ser428=) c.1358C= (p.Ser453=) c.1130C= (p.Ser377=) | |
| 7 | g.107919062C>G | CA4434704 | DLD | c.1427C>G (p.Ser476Cys) c.*1101C>G (n.*1101C>G) c.1283C>G (p.Ser428Cys) c.1358C>G (p.Ser453Cys) c.1130C>G (p.Ser377Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919062C>T | CA368859487 | DLD | c.1427C>T (p.Ser476Phe) c.*1101C>T (n.*1101C>T) c.1283C>T (p.Ser428Phe) c.1358C>T (p.Ser453Phe) c.1130C>T (p.Ser377Phe) | |
| 7 | g.107919063C>A | CA457109811 | DLD | c.1428C>A (p.Ser476=) c.*1102C>A (n.*1102C>A) c.1284C>A (p.Ser428=) c.1359C>A (p.Ser453=) c.1131C>A (p.Ser377=) | |
| 7 | g.107919063C= | CA1732860736 | DLD | c.1428C= (p.Ser476=) c.*1102C= (n.*1102C=) c.1284C= (p.Ser428=) c.1359C= (p.Ser453=) c.1131C= (p.Ser377=) | |
| 7 | g.107919063C>G | CA457109812 | DLD | c.1428C>G (p.Ser476=) c.*1102C>G (n.*1102C>G) c.1284C>G (p.Ser428=) c.1359C>G (p.Ser453=) c.1131C>G (p.Ser377=) | |
| 7 | g.107919063C>T | CA457109813 | DLD | c.1428C>T (p.Ser476=) c.*1102C>T (n.*1102C>T) c.1284C>T (p.Ser428=) c.1359C>T (p.Ser453=) c.1131C>T (p.Ser377=) | ClinVar dbSNP |
| 7 | g.107919063_107919067del | CA913111803 | DLD | c.1428_1432del (p.Cys477ArgfsTer4) c.*1102_*1106del (n.*1102_*1106del) c.1284_1288del (p.Cys429ArgfsTer4) c.1359_1363del (p.Cys454ArgfsTer4) c.1131_1135del (p.Cys378ArgfsTer4) |