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.107919212A= | CA1732860801 | DLD | c.1483A= (p.Arg495=) c.*1157A= (n.*1157A=) c.1339A= (p.Arg447=) c.1414A= (p.Arg472=) c.1186A= (p.Arg396=) | |
| 7 | g.107919212A>C | CA457109854 | DLD | c.1483A>C (p.Arg495=) c.*1157A>C (n.*1157A>C) c.1339A>C (p.Arg447=) c.1414A>C (p.Arg472=) c.1186A>C (p.Arg396=) | |
| 7 | g.107919212A>G | CA256134 | DLD | c.1483A>G (p.Arg495Gly) c.*1157A>G (n.*1157A>G) c.1339A>G (p.Arg447Gly) c.1414A>G (p.Arg472Gly) c.1186A>G (p.Arg396Gly) | ClinVar dbSNP |
| 7 | g.107919212A>T | CA368859618 | DLD | c.1483A>T (p.Arg495Ter) c.*1157A>T (n.*1157A>T) c.1339A>T (p.Arg447Ter) c.1414A>T (p.Arg472Ter) c.1186A>T (p.Arg396Ter) | |
| 7 | g.107919213G>A | CA368859619 | DLD | c.1484G>A (p.Arg495Lys) c.*1158G>A (n.*1158G>A) c.1340G>A (p.Arg447Lys) c.1415G>A (p.Arg472Lys) c.1187G>A (p.Arg396Lys) | COSMIC COSMIC |
| 7 | g.107919213G>C | CA368859621 | DLD | c.1484G>C (p.Arg495Thr) c.*1158G>C (n.*1158G>C) c.1340G>C (p.Arg447Thr) c.1415G>C (p.Arg472Thr) c.1187G>C (p.Arg396Thr) | |
| 7 | g.107919213G>T | CA368859620 | DLD | c.1484G>T (p.Arg495Ile) c.*1158G>T (n.*1158G>T) c.1340G>T (p.Arg447Ile) c.1415G>T (p.Arg472Ile) c.1187G>T (p.Arg396Ile) | |
| 7 | g.107919214A>C | CA368859622 | DLD | c.1485A>C (p.Arg495Ser) c.*1159A>C (n.*1159A>C) c.1341A>C (p.Arg447Ser) c.1416A>C (p.Arg472Ser) c.1188A>C (p.Arg396Ser) | |
| 7 | g.107919214A>G | CA457109855 | DLD | c.1485A>G (p.Arg495=) c.*1159A>G (n.*1159A>G) c.1341A>G (p.Arg447=) c.1416A>G (p.Arg472=) c.1188A>G (p.Arg396=) | |
| 7 | g.107919214A>T | CA368859623 | DLD | c.1485A>T (p.Arg495Ser) c.*1159A>T (n.*1159A>T) c.1341A>T (p.Arg447Ser) c.1416A>T (p.Arg472Ser) c.1188A>T (p.Arg396Ser) | |
| 7 | g.107919215G>A | CA368859624 | DLD | c.1486G>A (p.Glu496Lys) c.*1160G>A (n.*1160G>A) c.1342G>A (p.Glu448Lys) c.1417G>A (p.Glu473Lys) c.1189G>A (p.Glu397Lys) | |
| 7 | g.107919215G>C | CA368859625 | DLD | c.1486G>C (p.Glu496Gln) c.*1160G>C (n.*1160G>C) c.1342G>C (p.Glu448Gln) c.1417G>C (p.Glu473Gln) c.1189G>C (p.Glu397Gln) | |
| 7 | g.107919215G>T | CA368859626 | DLD | c.1486G>T (p.Glu496Ter) c.*1160G>T (n.*1160G>T) c.1342G>T (p.Glu448Ter) c.1417G>T (p.Glu473Ter) c.1189G>T (p.Glu397Ter) | |
| 7 | g.107919216A>C | CA368859627 | DLD | c.1487A>C (p.Glu496Ala) c.*1161A>C (n.*1161A>C) c.1343A>C (p.Glu448Ala) c.1418A>C (p.Glu473Ala) c.1190A>C (p.Glu397Ala) | |
| 7 | g.107919216A>G | CA368859628 | DLD | c.1487A>G (p.Glu496Gly) c.*1161A>G (n.*1161A>G) c.1343A>G (p.Glu448Gly) c.1418A>G (p.Glu473Gly) c.1190A>G (p.Glu397Gly) | |
| 7 | g.107919216A>T | CA368859629 | DLD | c.1487A>T (p.Glu496Val) c.*1161A>T (n.*1161A>T) c.1343A>T (p.Glu448Val) c.1418A>T (p.Glu473Val) c.1190A>T (p.Glu397Val) | |
| 7 | g.107919217A>C | CA368859630 | DLD | c.1488A>C (p.Glu496Asp) c.*1162A>C (n.*1162A>C) c.1344A>C (p.Glu448Asp) c.1419A>C (p.Glu473Asp) c.1191A>C (p.Glu397Asp) | |
| 7 | g.107919217A>G | CA457109858 | DLD | c.1488A>G (p.Glu496=) c.*1162A>G (n.*1162A>G) c.1344A>G (p.Glu448=) c.1419A>G (p.Glu473=) c.1191A>G (p.Glu397=) | |
| 7 | g.107919217A>T | CA368859631 | DLD | c.1488A>T (p.Glu496Asp) c.*1162A>T (n.*1162A>T) c.1344A>T (p.Glu448Asp) c.1419A>T (p.Glu473Asp) c.1191A>T (p.Glu397Asp) | |
| 7 | g.107919218G>A | CA368859634 | DLD | c.1489G>A (p.Ala497Thr) c.*1163G>A (n.*1163G>A) c.1345G>A (p.Ala449Thr) c.1420G>A (p.Ala474Thr) c.1192G>A (p.Ala398Thr) | |
| 7 | g.107919218G>C | CA368859633 | DLD | c.1489G>C (p.Ala497Pro) c.*1163G>C (n.*1163G>C) c.1345G>C (p.Ala449Pro) c.1420G>C (p.Ala474Pro) c.1192G>C (p.Ala398Pro) | |
| 7 | g.107919218G>T | CA368859632 | DLD | c.1489G>T (p.Ala497Ser) c.*1163G>T (n.*1163G>T) c.1345G>T (p.Ala449Ser) c.1420G>T (p.Ala474Ser) c.1192G>T (p.Ala398Ser) | |
| 7 | g.107919219C>A | CA164259103 | DLD | c.1490C>A (p.Ala497Glu) c.*1164C>A (n.*1164C>A) c.1346C>A (p.Ala449Glu) c.1421C>A (p.Ala474Glu) c.1193C>A (p.Ala398Glu) | dbSNP |
| 7 | g.107919219C= | CA1732860802 | DLD | c.1490C= (p.Ala497=) c.*1164C= (n.*1164C=) c.1346C= (p.Ala449=) c.1421C= (p.Ala474=) c.1193C= (p.Ala398=) | |
| 7 | g.107919219C>G | CA368859636 | DLD | c.1490C>G (p.Ala497Gly) c.*1164C>G (n.*1164C>G) c.1346C>G (p.Ala449Gly) c.1421C>G (p.Ala474Gly) c.1193C>G (p.Ala398Gly) | dbSNP |
| 7 | g.107919219C>T | CA368859635 | DLD | c.1490C>T (p.Ala497Val) c.*1164C>T (n.*1164C>T) c.1346C>T (p.Ala449Val) c.1421C>T (p.Ala474Val) c.1193C>T (p.Ala398Val) | |
| 7 | g.107919220A>C | CA457109859 | DLD | c.1491A>C (p.Ala497=) c.*1165A>C (n.*1165A>C) c.1347A>C (p.Ala449=) c.1422A>C (p.Ala474=) c.1194A>C (p.Ala398=) | |
| 7 | g.107919220A>G | CA457109860 | DLD | c.1491A>G (p.Ala497=) c.*1165A>G (n.*1165A>G) c.1347A>G (p.Ala449=) c.1422A>G (p.Ala474=) c.1194A>G (p.Ala398=) | |
| 7 | g.107919220A>T | CA457109861 | DLD | c.1491A>T (p.Ala497=) c.*1165A>T (n.*1165A>T) c.1347A>T (p.Ala449=) c.1422A>T (p.Ala474=) c.1194A>T (p.Ala398=) | |
| 7 | g.107919221A= | CA1732860803 | DLD | c.1492A= (p.Asn498=) c.*1166A= (n.*1166A=) c.1348A= (p.Asn450=) c.1423A= (p.Asn475=) c.1195A= (p.Asn399=) | |
| 7 | g.107919221A>C | CA4434732 | DLD | c.1492A>C (p.Asn498His) c.*1166A>C (n.*1166A>C) c.1348A>C (p.Asn450His) c.1423A>C (p.Asn475His) c.1195A>C (p.Asn399His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919221A>G | CA368859637 | DLD | c.1492A>G (p.Asn498Asp) c.*1166A>G (n.*1166A>G) c.1348A>G (p.Asn450Asp) c.1423A>G (p.Asn475Asp) c.1195A>G (p.Asn399Asp) | |
| 7 | g.107919221A>T | CA368859638 | DLD | c.1492A>T (p.Asn498Tyr) c.*1166A>T (n.*1166A>T) c.1348A>T (p.Asn450Tyr) c.1423A>T (p.Asn475Tyr) c.1195A>T (p.Asn399Tyr) | |
| 7 | g.107919222A= | CA1732860804 | DLD | c.1493A= (p.Asn498=) c.*1167A= (n.*1167A=) c.1349A= (p.Asn450=) c.1424A= (p.Asn475=) c.1196A= (p.Asn399=) | |
| 7 | g.107919222A>C | CA164259105 | DLD | c.1493A>C (p.Asn498Thr) c.*1167A>C (n.*1167A>C) c.1349A>C (p.Asn450Thr) c.1424A>C (p.Asn475Thr) c.1196A>C (p.Asn399Thr) | dbSNP |
| 7 | g.107919222A>G | CA368859639 | DLD | c.1493A>G (p.Asn498Ser) c.*1167A>G (n.*1167A>G) c.1349A>G (p.Asn450Ser) c.1424A>G (p.Asn475Ser) c.1196A>G (p.Asn399Ser) | |
| 7 | g.107919222A>T | CA368859640 | DLD | c.1493A>T (p.Asn498Ile) c.*1167A>T (n.*1167A>T) c.1349A>T (p.Asn450Ile) c.1424A>T (p.Asn475Ile) c.1196A>T (p.Asn399Ile) | |
| 7 | g.107919223T>A | CA368859641 | DLD | c.1494T>A (p.Asn498Lys) c.*1168T>A (n.*1168T>A) c.1350T>A (p.Asn450Lys) c.1425T>A (p.Asn475Lys) c.1197T>A (p.Asn399Lys) | |
| 7 | g.107919223T>C | CA457109862 | DLD | c.1494T>C (p.Asn498=) c.*1168T>C (n.*1168T>C) c.1350T>C (p.Asn450=) c.1425T>C (p.Asn475=) c.1197T>C (p.Asn399=) | |
| 7 | g.107919223T>G | CA368859642 | DLD | c.1494T>G (p.Asn498Lys) c.*1168T>G (n.*1168T>G) c.1350T>G (p.Asn450Lys) c.1425T>G (p.Asn475Lys) c.1197T>G (p.Asn399Lys) | |
| 7 | g.107919224C>A | CA368859643 | DLD | c.1495C>A (p.Leu499Ile) c.*1169C>A (n.*1169C>A) c.1351C>A (p.Leu451Ile) c.1426C>A (p.Leu476Ile) c.1198C>A (p.Leu400Ile) | |
| 7 | g.107919224C= | CA1732860805 | DLD | c.1495C= (p.Leu499=) c.*1169C= (n.*1169C=) c.1351C= (p.Leu451=) c.1426C= (p.Leu476=) c.1198C= (p.Leu400=) | |
| 7 | g.107919224C>G | CA368859644 | DLD | c.1495C>G (p.Leu499Val) c.*1169C>G (n.*1169C>G) c.1351C>G (p.Leu451Val) c.1426C>G (p.Leu476Val) c.1198C>G (p.Leu400Val) | |
| 7 | g.107919224C>T | CA368859645 | DLD | c.1495C>T (p.Leu499Phe) c.*1169C>T (n.*1169C>T) c.1351C>T (p.Leu451Phe) c.1426C>T (p.Leu476Phe) c.1198C>T (p.Leu400Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919225T>A | CA368859648 | DLD | c.1496T>A (p.Leu499His) c.*1170T>A (n.*1170T>A) c.1352T>A (p.Leu451His) c.1427T>A (p.Leu476His) c.1199T>A (p.Leu400His) | |
| 7 | g.107919225T>C | CA368859647 | DLD | c.1496T>C (p.Leu499Pro) c.*1170T>C (n.*1170T>C) c.1352T>C (p.Leu451Pro) c.1427T>C (p.Leu476Pro) c.1199T>C (p.Leu400Pro) | |
| 7 | g.107919225T>G | CA368859646 | DLD | c.1496T>G (p.Leu499Arg) c.*1170T>G (n.*1170T>G) c.1352T>G (p.Leu451Arg) c.1427T>G (p.Leu476Arg) c.1199T>G (p.Leu400Arg) | |
| 7 | g.107919225_107919226insGT | CA577039399 | DLD | c.1496_1497insGT (p.Ala500LeufsTer?) c.*1170_*1171insGT (n.*1170_*1171insGT) c.1352_1353insGT (p.Ala452LeufsTer?) c.1427_1428insGT (p.Ala477LeufsTer?) c.1199_1200insGT (p.Ala401LeufsTer?) | dbSNP gnomAD v2 |
| 7 | g.107919226T>A | CA457109865 | DLD | c.1497T>A (p.Leu499=) c.*1171T>A (n.*1171T>A) c.1353T>A (p.Leu451=) c.1428T>A (p.Leu476=) c.1200T>A (p.Leu400=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919226T>C | CA457109863 | DLD | c.1497T>C (p.Leu499=) c.*1171T>C (n.*1171T>C) c.1353T>C (p.Leu451=) c.1428T>C (p.Leu476=) c.1200T>C (p.Leu400=) |