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.107919070G>A | CA368859503 | DLD | c.1435G>A (p.Asp479Asn) c.*1109G>A (n.*1109G>A) c.1291G>A (p.Asp431Asn) c.1366G>A (p.Asp456Asn) c.1138G>A (p.Asp380Asn) | |
| 7 | g.107919070G>C | CA368859504 | DLD | c.1435G>C (p.Asp479His) c.*1109G>C (n.*1109G>C) c.1291G>C (p.Asp431His) c.1366G>C (p.Asp456His) c.1138G>C (p.Asp380His) | |
| 7 | g.107919070G>T | CA368859505 | DLD | c.1435G>T (p.Asp479Tyr) c.*1109G>T (n.*1109G>T) c.1291G>T (p.Asp431Tyr) c.1366G>T (p.Asp456Tyr) c.1138G>T (p.Asp380Tyr) | |
| 7 | g.107919071A= | CA1732860740 | DLD | c.1436A= (p.Asp479=) c.*1110A= (n.*1110A=) c.1292A= (p.Asp431=) c.1367A= (p.Asp456=) c.1139A= (p.Asp380=) | |
| 7 | g.107919071A>C | CA368859507 | DLD | c.1436A>C (p.Asp479Ala) c.*1110A>C (n.*1110A>C) c.1292A>C (p.Asp431Ala) c.1367A>C (p.Asp456Ala) c.1139A>C (p.Asp380Ala) | |
| 7 | g.107919071A>G | CA368859506 | DLD | c.1436A>G (p.Asp479Gly) c.*1110A>G (n.*1110A>G) c.1292A>G (p.Asp431Gly) c.1367A>G (p.Asp456Gly) c.1139A>G (p.Asp380Gly) | gnomAD v4 |
| 7 | g.107919071A>T | CA261256 | DLD | c.1436A>T (p.Asp479Val) c.*1110A>T (n.*1110A>T) c.1292A>T (p.Asp431Val) c.1367A>T (p.Asp456Val) c.1139A>T (p.Asp380Val) | ClinVar dbSNP |
| 7 | g.107919072T>A | CA368859508 | DLD | c.1437T>A (p.Asp479Glu) c.*1111T>A (n.*1111T>A) c.1293T>A (p.Asp431Glu) c.1368T>A (p.Asp456Glu) c.1140T>A (p.Asp380Glu) | |
| 7 | g.107919072T>C | CA457109816 | DLD | c.1437T>C (p.Asp479=) c.*1111T>C (n.*1111T>C) c.1293T>C (p.Asp431=) c.1368T>C (p.Asp456=) c.1140T>C (p.Asp380=) | ClinVar gnomAD v4 |
| 7 | g.107919072T>G | CA368859509 | DLD | c.1437T>G (p.Asp479Glu) c.*1111T>G (n.*1111T>G) c.1293T>G (p.Asp431Glu) c.1368T>G (p.Asp456Glu) c.1140T>G (p.Asp380Glu) | |
| 7 | g.107919073A= | CA1732860741 | DLD | c.1438A= (p.Ile480=) c.*1112A= (n.*1112A=) c.1294A= (p.Ile432=) c.1369A= (p.Ile457=) c.1141A= (p.Ile381=) | |
| 7 | g.107919073A>C | CA368859510 | DLD | c.1438A>C (p.Ile480Leu) c.*1112A>C (n.*1112A>C) c.1294A>C (p.Ile432Leu) c.1369A>C (p.Ile457Leu) c.1141A>C (p.Ile381Leu) | |
| 7 | g.107919073A>G | CA4434707 | DLD | c.1438A>G (p.Ile480Val) c.*1112A>G (n.*1112A>G) c.1294A>G (p.Ile432Val) c.1369A>G (p.Ile457Val) c.1141A>G (p.Ile381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919073A>T | CA368859511 | DLD | c.1438A>T (p.Ile480Leu) c.*1112A>T (n.*1112A>T) c.1294A>T (p.Ile432Leu) c.1369A>T (p.Ile457Leu) c.1141A>T (p.Ile381Leu) | gnomAD v4 |
| 7 | g.107919074T>A | CA368859512 | DLD | c.1439T>A (p.Ile480Lys) c.*1113T>A (n.*1113T>A) c.1295T>A (p.Ile432Lys) c.1370T>A (p.Ile457Lys) c.1142T>A (p.Ile381Lys) | |
| 7 | g.107919074T>C | CA4434708 | DLD | c.1439T>C (p.Ile480Thr) c.*1113T>C (n.*1113T>C) c.1295T>C (p.Ile432Thr) c.1370T>C (p.Ile457Thr) c.1142T>C (p.Ile381Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.107919074T>G | CA368859513 | DLD | c.1439T>G (p.Ile480Arg) c.*1113T>G (n.*1113T>G) c.1295T>G (p.Ile432Arg) c.1370T>G (p.Ile457Arg) c.1142T>G (p.Ile381Arg) | |
| 7 | g.107919074T= | CA1732860742 | DLD | c.1439T= (p.Ile480=) c.*1113T= (n.*1113T=) c.1295T= (p.Ile432=) c.1370T= (p.Ile457=) c.1142T= (p.Ile381=) | |
| 7 | g.107919075A= | CA1732860743 | DLD | c.1440A= (p.Ile480=) c.*1114A= (n.*1114A=) c.1296A= (p.Ile432=) c.1371A= (p.Ile457=) c.1143A= (p.Ile381=) | |
| 7 | g.107919075A>C | CA457109818 | DLD | c.1440A>C (p.Ile480=) c.*1114A>C (n.*1114A>C) c.1296A>C (p.Ile432=) c.1371A>C (p.Ile457=) c.1143A>C (p.Ile381=) | |
| 7 | g.107919075A>G | CA4434709 | DLD | c.1440A>G (p.Ile480Met) c.*1114A>G (n.*1114A>G) c.1296A>G (p.Ile432Met) c.1371A>G (p.Ile457Met) c.1143A>G (p.Ile381Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919075A>T | CA457109817 | DLD | c.1440A>T (p.Ile480=) c.*1114A>T (n.*1114A>T) c.1296A>T (p.Ile432=) c.1371A>T (p.Ile457=) c.1143A>T (p.Ile381=) | gnomAD v4 |
| 7 | g.107919076G>A | CA368859514 | DLD | c.1441G>A (p.Ala481Thr) c.*1115G>A (n.*1115G>A) c.1297G>A (p.Ala433Thr) c.1372G>A (p.Ala458Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 |
| 7 | g.107919076G>C | CA368859515 | DLD | c.1441G>C (p.Ala481Pro) c.*1115G>C (n.*1115G>C) c.1297G>C (p.Ala433Pro) c.1372G>C (p.Ala458Pro) c.1144G>C (p.Ala382Pro) | |
| 7 | g.107919076G>T | CA368859516 | DLD | c.1441G>T (p.Ala481Ser) c.*1115G>T (n.*1115G>T) c.1297G>T (p.Ala433Ser) c.1372G>T (p.Ala458Ser) c.1144G>T (p.Ala382Ser) | |
| 7 | g.107919077C>A | CA368859517 | DLD | c.1442C>A (p.Ala481Asp) c.*1116C>A (n.*1116C>A) c.1298C>A (p.Ala433Asp) c.1373C>A (p.Ala458Asp) c.1145C>A (p.Ala382Asp) | gnomAD v4 |
| 7 | g.107919077C>G | CA368859518 | DLD | c.1442C>G (p.Ala481Gly) c.*1116C>G (n.*1116C>G) c.1298C>G (p.Ala433Gly) c.1373C>G (p.Ala458Gly) c.1145C>G (p.Ala382Gly) | |
| 7 | g.107919077C>T | CA368859519 | DLD | c.1442C>T (p.Ala481Val) c.*1116C>T (n.*1116C>T) c.1298C>T (p.Ala433Val) c.1373C>T (p.Ala458Val) c.1145C>T (p.Ala382Val) | |
| 7 | g.107919078T>A | CA457109819 | DLD | c.1443T>A (p.Ala481=) c.*1117T>A (n.*1117T>A) c.1299T>A (p.Ala433=) c.1374T>A (p.Ala458=) c.1146T>A (p.Ala382=) | |
| 7 | g.107919078T>C | CA457109820 | DLD | c.1443T>C (p.Ala481=) c.*1117T>C (n.*1117T>C) c.1299T>C (p.Ala433=) c.1374T>C (p.Ala458=) c.1146T>C (p.Ala382=) | |
| 7 | g.107919078T>G | CA4434710 | DLD | c.1443T>G (p.Ala481=) c.*1117T>G (n.*1117T>G) c.1299T>G (p.Ala433=) c.1374T>G (p.Ala458=) c.1146T>G (p.Ala382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919078T= | CA1732860745 | DLD | c.1443T= (p.Ala481=) c.*1117T= (n.*1117T=) c.1299T= (p.Ala433=) c.1374T= (p.Ala458=) c.1146T= (p.Ala382=) | |
| 7 | g.107919078_107919080del | CA913111804 | DLD | c.1443_1445del (p.Arg482del) c.*1117_*1119del (n.*1117_*1119del) c.1299_1301del (p.Arg434del) c.1374_1376del (p.Arg459del) c.1146_1148del (p.Arg383del) | |
| 7 | g.107919078_107919080delinsTAG | CA1732860744 | DLD | c.1443_1445delinsTAG (p.Ala481=) c.*1117_*1119delinsTAG (n.*1117_*1119delinsTAG) c.1299_1301delinsTAG (p.Ala433=) c.1374_1376delinsTAG (p.Ala458=) c.1146_1148delinsTAG (p.Ala382=) | |
| 7 | g.107919079A= | CA1732860746 | DLD | c.1444A= (p.Arg482=) c.*1118A= (n.*1118A=) c.1300A= (p.Arg434=) c.1375A= (p.Arg459=) c.1147A= (p.Arg383=) | |
| 7 | g.107919079A>C | CA457109821 | DLD | c.1444A>C (p.Arg482=) c.*1118A>C (n.*1118A>C) c.1300A>C (p.Arg434=) c.1375A>C (p.Arg459=) c.1147A>C (p.Arg383=) | |
| 7 | g.107919079A>G | CA261258 | DLD | c.1444A>G (p.Arg482Gly) c.*1118A>G (n.*1118A>G) c.1300A>G (p.Arg434Gly) c.1375A>G (p.Arg459Gly) c.1147A>G (p.Arg383Gly) | ClinVar dbSNP |
| 7 | g.107919079A>T | CA368859520 | DLD | c.1444A>T (p.Arg482Ter) c.*1118A>T (n.*1118A>T) c.1300A>T (p.Arg434Ter) c.1375A>T (p.Arg459Ter) c.1147A>T (p.Arg383Ter) | |
| 7 | g.107919081_107919082del | CA658821778 | DLD | c.1446_1447del (p.Arg482SerfsTer13) c.*1120_*1121del (n.*1120_*1121del) c.1302_1303del (p.Arg434SerfsTer13) c.1377_1378del (p.Arg459SerfsTer13) c.1149_1150del (p.Arg383SerfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919080G>A | CA368859521 | DLD | c.1445G>A (p.Arg482Lys) c.*1119G>A (n.*1119G>A) c.1301G>A (p.Arg434Lys) c.1376G>A (p.Arg459Lys) c.1148G>A (p.Arg383Lys) | |
| 7 | g.107919080G>C | CA368859522 | DLD | c.1445G>C (p.Arg482Thr) c.*1119G>C (n.*1119G>C) c.1301G>C (p.Arg434Thr) c.1376G>C (p.Arg459Thr) c.1148G>C (p.Arg383Thr) | |
| 7 | g.107919080G>T | CA368859523 | DLD | c.1445G>T (p.Arg482Ile) c.*1119G>T (n.*1119G>T) c.1301G>T (p.Arg434Ile) c.1376G>T (p.Arg459Ile) c.1148G>T (p.Arg383Ile) | |
| 7 | g.107919081A>C | CA368859524 | DLD | c.1446A>C (p.Arg482Ser) c.*1120A>C (n.*1120A>C) c.1302A>C (p.Arg434Ser) c.1377A>C (p.Arg459Ser) c.1149A>C (p.Arg383Ser) | |
| 7 | g.107919081A>G | CA457109822 | DLD | c.1446A>G (p.Arg482=) c.*1120A>G (n.*1120A>G) c.1302A>G (p.Arg434=) c.1377A>G (p.Arg459=) c.1149A>G (p.Arg383=) | gnomAD v4 |
| 7 | g.107919081A>T | CA368859525 | DLD | c.1446A>T (p.Arg482Ser) c.*1120A>T (n.*1120A>T) c.1302A>T (p.Arg434Ser) c.1377A>T (p.Arg459Ser) c.1149A>T (p.Arg383Ser) | |
| 7 | g.107919082G>A | CA368859526 | DLD | c.1447G>A (p.Val483Ile) c.*1121G>A (n.*1121G>A) c.1303G>A (p.Val435Ile) c.1378G>A (p.Val460Ile) c.1150G>A (p.Val384Ile) | gnomAD v4 |
| 7 | g.107919082G>C | CA368859527 | DLD | c.1447G>C (p.Val483Leu) c.*1121G>C (n.*1121G>C) c.1303G>C (p.Val435Leu) c.1378G>C (p.Val460Leu) c.1150G>C (p.Val384Leu) | |
| 7 | g.107919082G>T | CA368859528 | DLD | c.1447G>T (p.Val483Phe) c.*1121G>T (n.*1121G>T) c.1303G>T (p.Val435Phe) c.1378G>T (p.Val460Phe) c.1150G>T (p.Val384Phe) | |
| 7 | g.107919083T>A | CA368859529 | DLD | c.1448T>A (p.Val483Asp) c.*1122T>A (n.*1122T>A) c.1304T>A (p.Val435Asp) c.1379T>A (p.Val460Asp) c.1151T>A (p.Val384Asp) | |
| 7 | g.107919083T>C | CA368859530 | DLD | c.1448T>C (p.Val483Ala) c.*1122T>C (n.*1122T>C) c.1304T>C (p.Val435Ala) c.1379T>C (p.Val460Ala) c.1151T>C (p.Val384Ala) |