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 |
|---|---|---|---|---|---|
| 16 | g.50711949G>A | CA8051678 | NOD2 | c.1957G>A (p.Gly653Arg) c.2038G>A (p.Gly680Arg) c.1534G>A (p.Gly512Arg) c.1372G>A (p.Gly458Arg) n.2047G>A c.1465G>A (p.Gly489Arg) n.2000G>A n.2022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50711949G>C | CA395870655 | NOD2 | c.1957G>C (p.Gly653Arg) c.2038G>C (p.Gly680Arg) c.1534G>C (p.Gly512Arg) c.1372G>C (p.Gly458Arg) n.2047G>C c.1465G>C (p.Gly489Arg) n.2000G>C n.2022G>C | |
| 16 | g.50711949G= | CA2221862371 | NOD2 | c.1957G= (p.Gly653=) c.2038G= (p.Gly680=) c.1534G= (p.Gly512=) c.1372G= (p.Gly458=) n.2047G= c.1465G= (p.Gly489=) n.2000G= n.2022G= | |
| 16 | g.50711949G>T | CA395870657 | NOD2 | c.1957G>T (p.Gly653Trp) c.2038G>T (p.Gly680Trp) c.1534G>T (p.Gly512Trp) c.1372G>T (p.Gly458Trp) n.2047G>T c.1465G>T (p.Gly489Trp) n.2000G>T n.2022G>T | gnomAD v4 |
| 16 | g.50711950G>A | CA395870662 | NOD2 | c.1958G>A (p.Gly653Glu) c.2039G>A (p.Gly680Glu) c.1535G>A (p.Gly512Glu) c.1373G>A (p.Gly458Glu) n.2048G>A c.1466G>A (p.Gly489Glu) n.2001G>A n.2023G>A | |
| 16 | g.50711950G>C | CA395870661 | NOD2 | c.1958G>C (p.Gly653Ala) c.2039G>C (p.Gly680Ala) c.1535G>C (p.Gly512Ala) c.1373G>C (p.Gly458Ala) n.2048G>C c.1466G>C (p.Gly489Ala) n.2001G>C n.2023G>C | |
| 16 | g.50711950G>T | CA395870659 | NOD2 | c.1958G>T (p.Gly653Val) c.2039G>T (p.Gly680Val) c.1535G>T (p.Gly512Val) c.1373G>T (p.Gly458Val) n.2048G>T c.1466G>T (p.Gly489Val) n.2001G>T n.2023G>T | |
| 16 | g.50711951G>A | CA8051679 | NOD2 | c.1959G>A (p.Gly653=) c.2040G>A (p.Gly680=) c.1536G>A (p.Gly512=) c.1374G>A (p.Gly458=) n.2049G>A c.1467G>A (p.Gly489=) n.2002G>A n.2024G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50711951G>C | CA495779274 | NOD2 | c.1959G>C (p.Gly653=) c.2040G>C (p.Gly680=) c.1536G>C (p.Gly512=) c.1374G>C (p.Gly458=) n.2049G>C c.1467G>C (p.Gly489=) n.2002G>C n.2024G>C | |
| 16 | g.50711951G= | CA2221862375 | NOD2 | c.1959G= (p.Gly653=) c.2040G= (p.Gly680=) c.1536G= (p.Gly512=) c.1374G= (p.Gly458=) n.2049G= c.1467G= (p.Gly489=) n.2002G= n.2024G= | |
| 16 | g.50711951G>T | CA495779273 | NOD2 | c.1959G>T (p.Gly653=) c.2040G>T (p.Gly680=) c.1536G>T (p.Gly512=) c.1374G>T (p.Gly458=) n.2049G>T c.1467G>T (p.Gly489=) n.2002G>T n.2024G>T | |
| 16 | g.50711952C>A | CA395870668 | NOD2 | c.1960C>A (p.Leu654Met) c.2041C>A (p.Leu681Met) c.1537C>A (p.Leu513Met) c.1375C>A (p.Leu459Met) n.2050C>A c.1468C>A (p.Leu490Met) n.2003C>A n.2025C>A | |
| 16 | g.50711952C= | CA2221862378 | NOD2 | c.1960C= (p.Leu654=) c.2041C= (p.Leu681=) c.1537C= (p.Leu513=) c.1375C= (p.Leu459=) n.2050C= c.1468C= (p.Leu490=) n.2003C= n.2025C= | |
| 16 | g.50711952C>G | CA395870665 | NOD2 | c.1960C>G (p.Leu654Val) c.2041C>G (p.Leu681Val) c.1537C>G (p.Leu513Val) c.1375C>G (p.Leu459Val) n.2050C>G c.1468C>G (p.Leu490Val) n.2003C>G n.2025C>G | gnomAD v4 |
| 16 | g.50711952C>T | CA8051680 | NOD2 | c.1960C>T (p.Leu654=) c.2041C>T (p.Leu681=) c.1537C>T (p.Leu513=) c.1375C>T (p.Leu459=) n.2050C>T c.1468C>T (p.Leu490=) n.2003C>T n.2025C>T | dbSNP ExAC gnomAD v2 |
| 16 | g.50711953T>A | CA395870669 | NOD2 | c.1961T>A (p.Leu654Gln) c.2042T>A (p.Leu681Gln) c.1538T>A (p.Leu513Gln) c.1376T>A (p.Leu459Gln) n.2051T>A c.1469T>A (p.Leu490Gln) n.2004T>A n.2026T>A | |
| 16 | g.50711953T>C | CA395870670 | NOD2 | c.1961T>C (p.Leu654Pro) c.2042T>C (p.Leu681Pro) c.1538T>C (p.Leu513Pro) c.1376T>C (p.Leu459Pro) n.2051T>C c.1469T>C (p.Leu490Pro) n.2004T>C n.2026T>C | |
| 16 | g.50711953T>G | CA395870672 | NOD2 | c.1961T>G (p.Leu654Arg) c.2042T>G (p.Leu681Arg) c.1538T>G (p.Leu513Arg) c.1376T>G (p.Leu459Arg) n.2051T>G c.1469T>G (p.Leu490Arg) n.2004T>G n.2026T>G | |
| 16 | g.50711954G>A | CA495779278 | NOD2 | c.1962G>A (p.Leu654=) c.2043G>A (p.Leu681=) c.1539G>A (p.Leu513=) c.1377G>A (p.Leu459=) n.2052G>A c.1470G>A (p.Leu490=) n.2005G>A n.2027G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50711954G>C | CA495779279 | NOD2 | c.1962G>C (p.Leu654=) c.2043G>C (p.Leu681=) c.1539G>C (p.Leu513=) c.1377G>C (p.Leu459=) n.2052G>C c.1470G>C (p.Leu490=) n.2005G>C n.2027G>C | |
| 16 | g.50711954G= | CA2221862383 | NOD2 | c.1962G= (p.Leu654=) c.2043G= (p.Leu681=) c.1539G= (p.Leu513=) c.1377G= (p.Leu459=) n.2052G= c.1470G= (p.Leu490=) n.2005G= n.2027G= | |
| 16 | g.50711954G>T | CA495779280 | NOD2 | c.1962G>T (p.Leu654=) c.2043G>T (p.Leu681=) c.1539G>T (p.Leu513=) c.1377G>T (p.Leu459=) n.2052G>T c.1470G>T (p.Leu490=) n.2005G>T n.2027G>T | |
| 16 | g.50711955T>A | CA395870675 | NOD2 | c.1963T>A (p.Leu655Met) c.2044T>A (p.Leu682Met) c.1540T>A (p.Leu514Met) c.1378T>A (p.Leu460Met) n.2053T>A c.1471T>A (p.Leu491Met) n.2006T>A n.2028T>A | |
| 16 | g.50711955T>C | CA495779281 | NOD2 | c.1963T>C (p.Leu655=) c.2044T>C (p.Leu682=) c.1540T>C (p.Leu514=) c.1378T>C (p.Leu460=) n.2053T>C c.1471T>C (p.Leu491=) n.2006T>C n.2028T>C | |
| 16 | g.50711955T>G | CA395870676 | NOD2 | c.1963T>G (p.Leu655Val) c.2044T>G (p.Leu682Val) c.1540T>G (p.Leu514Val) c.1378T>G (p.Leu460Val) n.2053T>G c.1471T>G (p.Leu491Val) n.2006T>G n.2028T>G | |
| 16 | g.50711956T>A | CA395870678 | NOD2 | c.1964T>A (p.Leu655Ter) c.2045T>A (p.Leu682Ter) c.1541T>A (p.Leu514Ter) c.1379T>A (p.Leu460Ter) n.2054T>A c.1472T>A (p.Leu491Ter) n.2007T>A n.2029T>A | |
| 16 | g.50711956T>C | CA395870680 | NOD2 | c.1964T>C (p.Leu655Ser) c.2045T>C (p.Leu682Ser) c.1541T>C (p.Leu514Ser) c.1379T>C (p.Leu460Ser) n.2054T>C c.1472T>C (p.Leu491Ser) n.2007T>C n.2029T>C | |
| 16 | g.50711956T>G | CA395870681 | NOD2 | c.1964T>G (p.Leu655Trp) c.2045T>G (p.Leu682Trp) c.1541T>G (p.Leu514Trp) c.1379T>G (p.Leu460Trp) n.2054T>G c.1472T>G (p.Leu491Trp) n.2007T>G n.2029T>G | |
| 16 | g.50711957del | CA2633164534 | NOD2 | c.1965del (p.Leu655PhefsTer?) c.2046del (p.Leu682PhefsTer?) c.1542del (p.Leu514PhefsTer?) c.1380del (p.Leu460PhefsTer?) n.2055del c.1473del (p.Leu491PhefsTer?) n.2008del n.2030del | gnomAD v4 |
| 16 | g.50711957G>A | CA495779285 | NOD2 | c.1965G>A (p.Leu655=) c.2046G>A (p.Leu682=) c.1542G>A (p.Leu514=) c.1380G>A (p.Leu460=) n.2055G>A c.1473G>A (p.Leu491=) n.2008G>A n.2030G>A | |
| 16 | g.50711957G>C | CA395870683 | NOD2 | c.1965G>C (p.Leu655Phe) c.2046G>C (p.Leu682Phe) c.1542G>C (p.Leu514Phe) c.1380G>C (p.Leu460Phe) n.2055G>C c.1473G>C (p.Leu491Phe) n.2008G>C n.2030G>C | |
| 16 | g.50711957G= | CA2221862389 | NOD2 | c.1965G= (p.Leu655=) c.2046G= (p.Leu682=) c.1542G= (p.Leu514=) c.1380G= (p.Leu460=) n.2055G= c.1473G= (p.Leu491=) n.2008G= n.2030G= | |
| 16 | g.50711957G>T | CA8051681 | NOD2 | c.1965G>T (p.Leu655Phe) c.2046G>T (p.Leu682Phe) c.1542G>T (p.Leu514Phe) c.1380G>T (p.Leu460Phe) n.2055G>T c.1473G>T (p.Leu491Phe) n.2008G>T n.2030G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50711958T>A | CA395870691 | NOD2 | c.1966T>A (p.Ser656Thr) c.2047T>A (p.Ser683Thr) c.1543T>A (p.Ser515Thr) c.1381T>A (p.Ser461Thr) n.2056T>A c.1474T>A (p.Ser492Thr) n.2009T>A n.2031T>A | |
| 16 | g.50711958T>C | CA395870687 | NOD2 | c.1966T>C (p.Ser656Pro) c.2047T>C (p.Ser683Pro) c.1543T>C (p.Ser515Pro) c.1381T>C (p.Ser461Pro) n.2056T>C c.1474T>C (p.Ser492Pro) n.2009T>C n.2031T>C | |
| 16 | g.50711958T>G | CA395870689 | NOD2 | c.1966T>G (p.Ser656Ala) c.2047T>G (p.Ser683Ala) c.1543T>G (p.Ser515Ala) c.1381T>G (p.Ser461Ala) n.2056T>G c.1474T>G (p.Ser492Ala) n.2009T>G n.2031T>G | |
| 16 | g.50711959C>A | CA395870693 | NOD2 | c.1967C>A (p.Ser656Tyr) c.2048C>A (p.Ser683Tyr) c.1544C>A (p.Ser515Tyr) c.1382C>A (p.Ser461Tyr) n.2057C>A c.1475C>A (p.Ser492Tyr) n.2010C>A n.2032C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50711959C= | CA2221862394 | NOD2 | c.1967C= (p.Ser656=) c.2048C= (p.Ser683=) c.1544C= (p.Ser515=) c.1382C= (p.Ser461=) n.2057C= c.1475C= (p.Ser492=) n.2010C= n.2032C= | |
| 16 | g.50711959C>G | CA395870695 | NOD2 | c.1967C>G (p.Ser656Cys) c.2048C>G (p.Ser683Cys) c.1544C>G (p.Ser515Cys) c.1382C>G (p.Ser461Cys) n.2057C>G c.1475C>G (p.Ser492Cys) n.2010C>G n.2032C>G | |
| 16 | g.50711959C>T | CA395870696 | NOD2 | c.1967C>T (p.Ser656Phe) c.2048C>T (p.Ser683Phe) c.1544C>T (p.Ser515Phe) c.1382C>T (p.Ser461Phe) n.2057C>T c.1475C>T (p.Ser492Phe) n.2010C>T n.2032C>T | |
| 16 | g.50711960C>A | CA495779287 | NOD2 | c.1968C>A (p.Ser656=) c.2049C>A (p.Ser683=) c.1545C>A (p.Ser515=) c.1383C>A (p.Ser461=) n.2058C>A c.1476C>A (p.Ser492=) n.2011C>A n.2033C>A | |
| 16 | g.50711960C= | CA2221862396 | NOD2 | c.1968C= (p.Ser656=) c.2049C= (p.Ser683=) c.1545C= (p.Ser515=) c.1383C= (p.Ser461=) n.2058C= c.1476C= (p.Ser492=) n.2011C= n.2033C= | |
| 16 | g.50711960C>G | CA495779288 | NOD2 | c.1968C>G (p.Ser656=) c.2049C>G (p.Ser683=) c.1545C>G (p.Ser515=) c.1383C>G (p.Ser461=) n.2058C>G c.1476C>G (p.Ser492=) n.2011C>G n.2033C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50711960C>T | CA495779289 | NOD2 | c.1968C>T (p.Ser656=) c.2049C>T (p.Ser683=) c.1545C>T (p.Ser515=) c.1383C>T (p.Ser461=) n.2058C>T c.1476C>T (p.Ser492=) n.2011C>T n.2033C>T | |
| 16 | g.50711961C>A | CA495779290 | NOD2 | c.1969C>A (p.Arg657=) c.2050C>A (p.Arg684=) c.1546C>A (p.Arg516=) c.1384C>A (p.Arg462=) n.2059C>A c.1477C>A (p.Arg493=) n.2012C>A n.2034C>A | |
| 16 | g.50711961C= | CA2221862400 | NOD2 | c.1969C= (p.Arg657=) c.2050C= (p.Arg684=) c.1546C= (p.Arg516=) c.1384C= (p.Arg462=) n.2059C= c.1477C= (p.Arg493=) n.2012C= n.2034C= | |
| 16 | g.50711961C>G | CA8051683 | NOD2 | c.1969C>G (p.Arg657Gly) c.2050C>G (p.Arg684Gly) c.1546C>G (p.Arg516Gly) c.1384C>G (p.Arg462Gly) n.2059C>G c.1477C>G (p.Arg493Gly) n.2012C>G n.2034C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50711961C>T | CA8051682 | NOD2 | c.1969C>T (p.Arg657Trp) c.2050C>T (p.Arg684Trp) c.1546C>T (p.Arg516Trp) c.1384C>T (p.Arg462Trp) n.2059C>T c.1477C>T (p.Arg493Trp) n.2012C>T n.2034C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50711962G>A | CA8051684 | NOD2 | c.1970G>A (p.Arg657Gln) c.2051G>A (p.Arg684Gln) c.1547G>A (p.Arg516Gln) c.1385G>A (p.Arg462Gln) n.2060G>A c.1478G>A (p.Arg493Gln) n.2013G>A n.2035G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50711962G>C | CA395870699 | NOD2 | c.1970G>C (p.Arg657Pro) c.2051G>C (p.Arg684Pro) c.1547G>C (p.Arg516Pro) c.1385G>C (p.Arg462Pro) n.2060G>C c.1478G>C (p.Arg493Pro) n.2013G>C n.2035G>C | dbSNP gnomAD v3 gnomAD v4 |