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 |
|---|---|---|---|---|---|
| 1 | g.97515865C>A | CA341378445 | DPYD | c.1601G>T (p.Ser534Ile) c.1524+33695G>T (n.1524+33695G>T) c.1490G>T (p.Ser497Ile) c.1106G>T (p.Ser369Ile) | dbSNP |
| 1 | g.97515865C= | CA1139894833 | DPYD | c.1601G= (p.Ser534=) c.1524+33695G= (n.1524+33695G=) c.1490G= (p.Ser497=) c.1106G= (p.Ser369=) | |
| 1 | g.97515865C>G | CA341378449 | DPYD | c.1601G>C (p.Ser534Thr) c.1524+33695G>C (n.1524+33695G>C) c.1490G>C (p.Ser497Thr) c.1106G>C (p.Ser369Thr) | dbSNP |
| 1 | g.97515865C>T | CA228124 | DPYD | c.1601G>A (p.Ser534Asn) c.1524+33695G>A (n.1524+33695G>A) c.1490G>A (p.Ser497Asn) c.1106G>A (p.Ser369Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515866T>A | CA341378451 | DPYD | c.1600A>T (p.Ser534Cys) c.1524+33694A>T (n.1524+33694A>T) c.1489A>T (p.Ser497Cys) c.1105A>T (p.Ser369Cys) | dbSNP |
| 1 | g.97515866T>C | CA341378453 | DPYD | c.1600A>G (p.Ser534Gly) c.1524+33694A>G (n.1524+33694A>G) c.1489A>G (p.Ser497Gly) c.1105A>G (p.Ser369Gly) | |
| 1 | g.97515866T>G | CA341378454 | DPYD | c.1600A>C (p.Ser534Arg) c.1524+33694A>C (n.1524+33694A>C) c.1489A>C (p.Ser497Arg) c.1105A>C (p.Ser369Arg) | |
| 1 | g.97515867A>C | CA341378456 | DPYD | c.1599T>G (p.Ile533Met) c.1524+33693T>G (n.1524+33693T>G) c.1488T>G (p.Ile496Met) c.1104T>G (p.Ile368Met) | |
| 1 | g.97515867A>G | CA419142894 | DPYD | c.1599T>C (p.Ile533=) c.1524+33693T>C (n.1524+33693T>C) c.1488T>C (p.Ile496=) c.1104T>C (p.Ile368=) | |
| 1 | g.97515867A>T | CA419142896 | DPYD | c.1599T>A (p.Ile533=) c.1524+33693T>A (n.1524+33693T>A) c.1488T>A (p.Ile496=) c.1104T>A (p.Ile368=) | gnomAD v4 |
| 1 | g.97515868A>C | CA341378460 | DPYD | c.1598T>G (p.Ile533Ser) c.1524+33692T>G (n.1524+33692T>G) c.1487T>G (p.Ile496Ser) c.1103T>G (p.Ile368Ser) | |
| 1 | g.97515868A>G | CA341378458 | DPYD | c.1598T>C (p.Ile533Thr) c.1524+33692T>C (n.1524+33692T>C) c.1487T>C (p.Ile496Thr) c.1103T>C (p.Ile368Thr) | gnomAD v4 |
| 1 | g.97515868A>T | CA341378469 | DPYD | c.1598T>A (p.Ile533Asn) c.1524+33692T>A (n.1524+33692T>A) c.1487T>A (p.Ile496Asn) c.1103T>A (p.Ile368Asn) | |
| 1 | g.97515869T>A | CA341378470 | DPYD | c.1597A>T (p.Ile533Phe) c.1524+33691A>T (n.1524+33691A>T) c.1486A>T (p.Ile496Phe) c.1102A>T (p.Ile368Phe) | |
| 1 | g.97515869T>C | CA341378472 | DPYD | c.1597A>G (p.Ile533Val) c.1524+33691A>G (n.1524+33691A>G) c.1486A>G (p.Ile496Val) c.1102A>G (p.Ile368Val) | gnomAD v4 |
| 1 | g.97515869T>G | CA341378471 | DPYD | c.1597A>C (p.Ile533Leu) c.1524+33691A>C (n.1524+33691A>C) c.1486A>C (p.Ile496Leu) c.1102A>C (p.Ile368Leu) | |
| 1 | g.97515870G>A | CA419142909 | DPYD | c.1596C>T (p.Asp532=) c.1524+33690C>T (n.1524+33690C>T) c.1485C>T (p.Asp495=) c.1101C>T (p.Asp367=) | |
| 1 | g.97515870G>C | CA341378473 | DPYD | c.1596C>G (p.Asp532Glu) c.1524+33690C>G (n.1524+33690C>G) c.1485C>G (p.Asp495Glu) c.1101C>G (p.Asp367Glu) | dbSNP |
| 1 | g.97515870G>T | CA341378474 | DPYD | c.1596C>A (p.Asp532Glu) c.1524+33690C>A (n.1524+33690C>A) c.1485C>A (p.Asp495Glu) c.1101C>A (p.Asp367Glu) | |
| 1 | g.97515871T>A | CA341378478 | DPYD | c.1595A>T (p.Asp532Val) c.1524+33689A>T (n.1524+33689A>T) c.1484A>T (p.Asp495Val) c.1100A>T (p.Asp367Val) | |
| 1 | g.97515871T>C | CA341378479 | DPYD | c.1595A>G (p.Asp532Gly) c.1524+33689A>G (n.1524+33689A>G) c.1484A>G (p.Asp495Gly) c.1100A>G (p.Asp367Gly) | gnomAD v4 |
| 1 | g.97515871T>G | CA341378482 | DPYD | c.1595A>C (p.Asp532Ala) c.1524+33689A>C (n.1524+33689A>C) c.1484A>C (p.Asp495Ala) c.1100A>C (p.Asp367Ala) | |
| 1 | g.97515872C>A | CA341378484 | DPYD | c.1594G>T (p.Asp532Tyr) c.1524+33688G>T (n.1524+33688G>T) c.1483G>T (p.Asp495Tyr) c.1099G>T (p.Asp367Tyr) | dbSNP |
| 1 | g.97515872C>G | CA341378486 | DPYD | c.1594G>C (p.Asp532His) c.1524+33688G>C (n.1524+33688G>C) c.1483G>C (p.Asp495His) c.1099G>C (p.Asp367His) | dbSNP |
| 1 | g.97515872C>T | CA341378488 | DPYD | c.1594G>A (p.Asp532Asn) c.1524+33688G>A (n.1524+33688G>A) c.1483G>A (p.Asp495Asn) c.1099G>A (p.Asp367Asn) | dbSNP |
| 1 | g.97515873C>A | CA419142918 | DPYD | c.1593G>T (p.Val531=) c.1524+33687G>T (n.1524+33687G>T) c.1482G>T (p.Val494=) c.1098G>T (p.Val366=) | dbSNP |
| 1 | g.97515873C>G | CA419142919 | DPYD | c.1593G>C (p.Val531=) c.1524+33687G>C (n.1524+33687G>C) c.1482G>C (p.Val494=) c.1098G>C (p.Val366=) | |
| 1 | g.97515873C>T | CA419142921 | DPYD | c.1593G>A (p.Val531=) c.1524+33687G>A (n.1524+33687G>A) c.1482G>A (p.Val494=) c.1098G>A (p.Val366=) | gnomAD v4 |
| 1 | g.97515874A>C | CA341378490 | DPYD | c.1592T>G (p.Val531Gly) c.1524+33686T>G (n.1524+33686T>G) c.1481T>G (p.Val494Gly) c.1097T>G (p.Val366Gly) | |
| 1 | g.97515874A>G | CA341378491 | DPYD | c.1592T>C (p.Val531Ala) c.1524+33686T>C (n.1524+33686T>C) c.1481T>C (p.Val494Ala) c.1097T>C (p.Val366Ala) | |
| 1 | g.97515874A>T | CA341378493 | DPYD | c.1592T>A (p.Val531Glu) c.1524+33686T>A (n.1524+33686T>A) c.1481T>A (p.Val494Glu) c.1097T>A (p.Val366Glu) | |
| 1 | g.97515875C>A | CA341378498 | DPYD | c.1591G>T (p.Val531Leu) c.1524+33685G>T (n.1524+33685G>T) c.1480G>T (p.Val494Leu) c.1096G>T (p.Val366Leu) | dbSNP |
| 1 | g.97515875C>G | CA341378497 | DPYD | c.1591G>C (p.Val531Leu) c.1524+33685G>C (n.1524+33685G>C) c.1480G>C (p.Val494Leu) c.1096G>C (p.Val366Leu) | dbSNP gnomAD v4 |
| 1 | g.97515875C>T | CA341378496 | DPYD | c.1591G>A (p.Val531Met) c.1524+33685G>A (n.1524+33685G>A) c.1480G>A (p.Val494Met) c.1096G>A (p.Val366Met) | |
| 1 | g.97515876C>A | CA419142930 | DPYD | c.1590G>T (p.Leu530=) c.1524+33684G>T (n.1524+33684G>T) c.1479G>T (p.Leu493=) c.1095G>T (p.Leu365=) | dbSNP |
| 1 | g.97515876C>G | CA419142931 | DPYD | c.1590G>C (p.Leu530=) c.1524+33684G>C (n.1524+33684G>C) c.1479G>C (p.Leu493=) c.1095G>C (p.Leu365=) | dbSNP |
| 1 | g.97515876C>T | CA419142933 | DPYD | c.1590G>A (p.Leu530=) c.1524+33684G>A (n.1524+33684G>A) c.1479G>A (p.Leu493=) c.1095G>A (p.Leu365=) | gnomAD v4 |
| 1 | g.97515877A>C | CA341378501 | DPYD | c.1589T>G (p.Leu530Arg) c.1524+33683T>G (n.1524+33683T>G) c.1478T>G (p.Leu493Arg) c.1094T>G (p.Leu365Arg) | |
| 1 | g.97515877A>G | CA341378502 | DPYD | c.1589T>C (p.Leu530Pro) c.1524+33683T>C (n.1524+33683T>C) c.1478T>C (p.Leu493Pro) c.1094T>C (p.Leu365Pro) | |
| 1 | g.97515877A>T | CA341378503 | DPYD | c.1589T>A (p.Leu530Gln) c.1524+33683T>A (n.1524+33683T>A) c.1478T>A (p.Leu493Gln) c.1094T>A (p.Leu365Gln) | |
| 1 | g.97515878G>A | CA419142936 | DPYD | c.1588C>T (p.Leu530=) c.1524+33682C>T (n.1524+33682C>T) c.1477C>T (p.Leu493=) c.1093C>T (p.Leu365=) | dbSNP |
| 1 | g.97515878G>C | CA341378504 | DPYD | c.1588C>G (p.Leu530Val) c.1524+33682C>G (n.1524+33682C>G) c.1477C>G (p.Leu493Val) c.1093C>G (p.Leu365Val) | dbSNP |
| 1 | g.97515878G>T | CA341378506 | DPYD | c.1588C>A (p.Leu530Met) c.1524+33682C>A (n.1524+33682C>A) c.1477C>A (p.Leu493Met) c.1093C>A (p.Leu365Met) | |
| 1 | g.97515879A= | CA1141722896 | DPYD | c.1587T= (p.Asp529=) c.1524+33681T= (n.1524+33681T=) c.1476T= (p.Asp492=) c.1092T= (p.Asp364=) | |
| 1 | g.97515879A>C | CA341378508 | DPYD | c.1587T>G (p.Asp529Glu) c.1524+33681T>G (n.1524+33681T>G) c.1476T>G (p.Asp492Glu) c.1092T>G (p.Asp364Glu) | |
| 1 | g.97515879A>G | CA963294 | DPYD | c.1587T>C (p.Asp529=) c.1524+33681T>C (n.1524+33681T>C) c.1476T>C (p.Asp492=) c.1092T>C (p.Asp364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515879A>T | CA341378511 | DPYD | c.1587T>A (p.Asp529Glu) c.1524+33681T>A (n.1524+33681T>A) c.1476T>A (p.Asp492Glu) c.1092T>A (p.Asp364Glu) | |
| 1 | g.97515880T>A | CA341378512 | DPYD | c.1586A>T (p.Asp529Val) c.1524+33680A>T (n.1524+33680A>T) c.1475A>T (p.Asp492Val) c.1091A>T (p.Asp364Val) | dbSNP |
| 1 | g.97515880T>C | CA341378513 | DPYD | c.1586A>G (p.Asp529Gly) c.1524+33680A>G (n.1524+33680A>G) c.1475A>G (p.Asp492Gly) c.1091A>G (p.Asp364Gly) | dbSNP |
| 1 | g.97515880T>G | CA341378514 | DPYD | c.1586A>C (p.Asp529Ala) c.1524+33680A>C (n.1524+33680A>C) c.1475A>C (p.Asp492Ala) c.1091A>C (p.Asp364Ala) | dbSNP |