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 |
|---|---|---|---|---|---|
| 8 | g.31090843A>C | CA370927440 | WRN | c.1730A>C (p.Lys577Thr) c.*1344A>C (n.*1344A>C) n.363A>C c.1649A>C (p.Lys550Thr) c.131A>C (p.Lys44Thr) n.2003A>C c.1520A>C (p.Lys507Thr) n.2031A>C | |
| 8 | g.31090843A>G | CA370927443 | WRN | c.1730A>G (p.Lys577Arg) c.*1344A>G (n.*1344A>G) n.363A>G c.1649A>G (p.Lys550Arg) c.131A>G (p.Lys44Arg) n.2003A>G c.1520A>G (p.Lys507Arg) n.2031A>G | |
| 8 | g.31090843A>T | CA253493 | WRN | c.1730A>T (p.Lys577Met) c.*1344A>T (n.*1344A>T) n.363A>T c.1649A>T (p.Lys550Met) c.131A>T (p.Lys44Met) n.2003A>T c.1520A>T (p.Lys507Met) n.2031A>T | ClinVar dbSNP |
| 8 | g.31090844G>A | CA460228091 | WRN | c.1731G>A (p.Lys577=) c.*1345G>A (n.*1345G>A) n.364G>A c.1650G>A (p.Lys550=) c.132G>A (p.Lys44=) n.2004G>A c.1521G>A (p.Lys507=) n.2032G>A | |
| 8 | g.31090844G>C | CA370927446 | WRN | c.1731G>C (p.Lys577Asn) c.*1345G>C (n.*1345G>C) n.364G>C c.1650G>C (p.Lys550Asn) c.132G>C (p.Lys44Asn) n.2004G>C c.1521G>C (p.Lys507Asn) n.2032G>C | ClinVar |
| 8 | g.31090844G>T | CA370927447 | WRN | c.1731G>T (p.Lys577Asn) c.*1345G>T (n.*1345G>T) n.364G>T c.1650G>T (p.Lys550Asn) c.132G>T (p.Lys44Asn) n.2004G>T c.1521G>T (p.Lys507Asn) n.2032G>T | |
| 8 | g.31090845A>C | CA370927448 | WRN | c.1732A>C (p.Ser578Arg) c.*1346A>C (n.*1346A>C) n.365A>C c.1651A>C (p.Ser551Arg) c.133A>C (p.Ser45Arg) n.2005A>C c.1522A>C (p.Ser508Arg) n.2033A>C | |
| 8 | g.31090845A>G | CA370927449 | WRN | c.1732A>G (p.Ser578Gly) c.*1346A>G (n.*1346A>G) n.365A>G c.1651A>G (p.Ser551Gly) c.133A>G (p.Ser45Gly) n.2005A>G c.1522A>G (p.Ser508Gly) n.2033A>G | |
| 8 | g.31090845A>T | CA370927452 | WRN | c.1732A>T (p.Ser578Cys) c.*1346A>T (n.*1346A>T) n.365A>T c.1651A>T (p.Ser551Cys) c.133A>T (p.Ser45Cys) n.2005A>T c.1522A>T (p.Ser508Cys) n.2033A>T | |
| 8 | g.31090846G>A | CA370927455 | WRN | c.1733G>A (p.Ser578Asn) c.*1347G>A (n.*1347G>A) n.366G>A c.1652G>A (p.Ser551Asn) c.134G>A (p.Ser45Asn) n.2006G>A c.1523G>A (p.Ser508Asn) n.2034G>A | |
| 8 | g.31090846G>C | CA370927460 | WRN | c.1733G>C (p.Ser578Thr) c.*1347G>C (n.*1347G>C) n.366G>C c.1652G>C (p.Ser551Thr) c.134G>C (p.Ser45Thr) n.2006G>C c.1523G>C (p.Ser508Thr) n.2034G>C | |
| 8 | g.31090846G>T | CA370927462 | WRN | c.1733G>T (p.Ser578Ile) c.*1347G>T (n.*1347G>T) n.366G>T c.1652G>T (p.Ser551Ile) c.134G>T (p.Ser45Ile) n.2006G>T c.1523G>T (p.Ser508Ile) n.2034G>T | |
| 8 | g.31090847T>A | CA370927471 | WRN | c.1734T>A (p.Ser578Arg) c.*1348T>A (n.*1348T>A) n.367T>A c.1653T>A (p.Ser551Arg) c.135T>A (p.Ser45Arg) n.2007T>A c.1524T>A (p.Ser508Arg) n.2035T>A | |
| 8 | g.31090847T>C | CA174865692 | WRN | c.1734T>C (p.Ser578=) c.*1348T>C (n.*1348T>C) n.367T>C c.1653T>C (p.Ser551=) c.135T>C (p.Ser45=) n.2007T>C c.1524T>C (p.Ser508=) n.2035T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.31090847T>G | CA370927465 | WRN | c.1734T>G (p.Ser578Arg) c.*1348T>G (n.*1348T>G) n.367T>G c.1653T>G (p.Ser551Arg) c.135T>G (p.Ser45Arg) n.2007T>G c.1524T>G (p.Ser508Arg) n.2035T>G | |
| 8 | g.31090849del | CA2686836693 | WRN | c.1736del (p.Leu579CysfsTer10) c.*1350del (n.*1350del) n.369del c.1655del (p.Leu552CysfsTer10) c.137del (p.Leu46CysfsTer10) n.2009del c.1526del (p.Leu509CysfsTer10) n.2037del | gnomAD v4 |
| 8 | g.31090848T>A | CA370927474 | WRN | c.1735T>A (p.Leu579Met) c.*1349T>A (n.*1349T>A) n.368T>A c.1654T>A (p.Leu552Met) c.136T>A (p.Leu46Met) n.2008T>A c.1525T>A (p.Leu509Met) n.2036T>A | |
| 8 | g.31090848T>C | CA460228097 | WRN | c.1735T>C (p.Leu579=) c.*1349T>C (n.*1349T>C) n.368T>C c.1654T>C (p.Leu552=) c.136T>C (p.Leu46=) n.2008T>C c.1525T>C (p.Leu509=) n.2036T>C | |
| 8 | g.31090848T>G | CA370927476 | WRN | c.1735T>G (p.Leu579Val) c.*1349T>G (n.*1349T>G) n.368T>G c.1654T>G (p.Leu552Val) c.136T>G (p.Leu46Val) n.2008T>G c.1525T>G (p.Leu509Val) n.2036T>G | |
| 8 | g.31090849T>A | CA370927479 | WRN | c.1736T>A (p.Leu579Ter) c.*1350T>A (n.*1350T>A) n.369T>A c.1655T>A (p.Leu552Ter) c.137T>A (p.Leu46Ter) n.2009T>A c.1526T>A (p.Leu509Ter) n.2037T>A | |
| 8 | g.31090849T>C | CA370927484 | WRN | c.1736T>C (p.Leu579Ser) c.*1350T>C (n.*1350T>C) n.369T>C c.1655T>C (p.Leu552Ser) c.137T>C (p.Leu46Ser) n.2009T>C c.1526T>C (p.Leu509Ser) n.2037T>C | |
| 8 | g.31090849T>G | CA370927488 | WRN | c.1736T>G (p.Leu579Trp) c.*1350T>G (n.*1350T>G) n.369T>G c.1655T>G (p.Leu552Trp) c.137T>G (p.Leu46Trp) n.2009T>G c.1526T>G (p.Leu509Trp) n.2037T>G | |
| 8 | g.31090850G>A | CA460228103 | WRN | c.1737G>A (p.Leu579=) c.*1351G>A (n.*1351G>A) n.370G>A c.1656G>A (p.Leu552=) c.138G>A (p.Leu46=) n.2010G>A c.1527G>A (p.Leu509=) n.2038G>A | gnomAD v4 |
| 8 | g.31090850G>C | CA370927491 | WRN | c.1737G>C (p.Leu579Phe) c.*1351G>C (n.*1351G>C) n.370G>C c.1656G>C (p.Leu552Phe) c.138G>C (p.Leu46Phe) n.2010G>C c.1527G>C (p.Leu509Phe) n.2038G>C | |
| 8 | g.31090850G>T | CA370927495 | WRN | c.1737G>T (p.Leu579Phe) c.*1351G>T (n.*1351G>T) n.370G>T c.1656G>T (p.Leu552Phe) c.138G>T (p.Leu46Phe) n.2010G>T c.1527G>T (p.Leu509Phe) n.2038G>T | gnomAD v4 |
| 8 | g.31090851T>A | CA370927497 | WRN | c.1738T>A (p.Cys580Ser) c.*1352T>A (n.*1352T>A) n.371T>A c.1657T>A (p.Cys553Ser) c.139T>A (p.Cys47Ser) n.2011T>A c.1528T>A (p.Cys510Ser) n.2039T>A | |
| 8 | g.31090851T>C | CA370927511 | WRN | c.1738T>C (p.Cys580Arg) c.*1352T>C (n.*1352T>C) n.371T>C c.1657T>C (p.Cys553Arg) c.139T>C (p.Cys47Arg) n.2011T>C c.1528T>C (p.Cys510Arg) n.2039T>C | gnomAD v4 |
| 8 | g.31090851T>G | CA370927515 | WRN | c.1738T>G (p.Cys580Gly) c.*1352T>G (n.*1352T>G) n.371T>G c.1657T>G (p.Cys553Gly) c.139T>G (p.Cys47Gly) n.2011T>G c.1528T>G (p.Cys510Gly) n.2039T>G | |
| 8 | g.31090852G>A | CA370927519 | WRN | c.1739G>A (p.Cys580Tyr) c.*1353G>A (n.*1353G>A) n.372G>A c.1658G>A (p.Cys553Tyr) c.140G>A (p.Cys47Tyr) n.2012G>A c.1529G>A (p.Cys510Tyr) n.2040G>A | gnomAD v4 |
| 8 | g.31090852G>C | CA370927520 | WRN | c.1739G>C (p.Cys580Ser) c.*1353G>C (n.*1353G>C) n.372G>C c.1658G>C (p.Cys553Ser) c.140G>C (p.Cys47Ser) n.2012G>C c.1529G>C (p.Cys510Ser) n.2040G>C | |
| 8 | g.31090852G>T | CA370927521 | WRN | c.1739G>T (p.Cys580Phe) c.*1353G>T (n.*1353G>T) n.372G>T c.1658G>T (p.Cys553Phe) c.140G>T (p.Cys47Phe) n.2012G>T c.1529G>T (p.Cys510Phe) n.2040G>T | |
| 8 | g.31090853C>A | CA370927527 | WRN | c.1740C>A (p.Cys580Ter) c.*1354C>A (n.*1354C>A) n.373C>A c.1659C>A (p.Cys553Ter) c.141C>A (p.Cys47Ter) n.2013C>A c.1530C>A (p.Cys510Ter) n.2041C>A | |
| 8 | g.31090853C>G | CA370927523 | WRN | c.1740C>G (p.Cys580Trp) c.*1354C>G (n.*1354C>G) n.373C>G c.1659C>G (p.Cys553Trp) c.141C>G (p.Cys47Trp) n.2013C>G c.1530C>G (p.Cys510Trp) n.2041C>G | |
| 8 | g.31090853C>T | CA4704476 | WRN | c.1740C>T (p.Cys580=) c.*1354C>T (n.*1354C>T) n.373C>T c.1659C>T (p.Cys553=) c.141C>T (p.Cys47=) n.2013C>T c.1530C>T (p.Cys510=) n.2041C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.31090854T>A | CA370927536 | WRN | c.1741T>A (p.Phe581Ile) c.*1355T>A (n.*1355T>A) n.374T>A c.1660T>A (p.Phe554Ile) c.142T>A (p.Phe48Ile) n.2014T>A c.1531T>A (p.Phe511Ile) n.2042T>A | |
| 8 | g.31090854T>C | CA370927539 | WRN | c.1741T>C (p.Phe581Leu) c.*1355T>C (n.*1355T>C) n.374T>C c.1660T>C (p.Phe554Leu) c.142T>C (p.Phe48Leu) n.2014T>C c.1531T>C (p.Phe511Leu) n.2042T>C | |
| 8 | g.31090854T>G | CA370927544 | WRN | c.1741T>G (p.Phe581Val) c.*1355T>G (n.*1355T>G) n.374T>G c.1660T>G (p.Phe554Val) c.142T>G (p.Phe48Val) n.2014T>G c.1531T>G (p.Phe511Val) n.2042T>G | |
| 8 | g.31090855T>A | CA370927547 | WRN | c.1742T>A (p.Phe581Tyr) c.*1356T>A (n.*1356T>A) n.375T>A c.1661T>A (p.Phe554Tyr) c.143T>A (p.Phe48Tyr) n.2015T>A c.1532T>A (p.Phe511Tyr) n.2043T>A | |
| 8 | g.31090855T>C | CA370927552 | WRN | c.1742T>C (p.Phe581Ser) c.*1356T>C (n.*1356T>C) n.375T>C c.1661T>C (p.Phe554Ser) c.143T>C (p.Phe48Ser) n.2015T>C c.1532T>C (p.Phe511Ser) n.2043T>C | |
| 8 | g.31090855T>G | CA370927554 | WRN | c.1742T>G (p.Phe581Cys) c.*1356T>G (n.*1356T>G) n.375T>G c.1661T>G (p.Phe554Cys) c.143T>G (p.Phe48Cys) n.2015T>G c.1532T>G (p.Phe511Cys) n.2043T>G | |
| 8 | g.31090856C>A | CA370927557 | WRN | c.1743C>A (p.Phe581Leu) c.*1357C>A (n.*1357C>A) n.376C>A c.1662C>A (p.Phe554Leu) c.144C>A (p.Phe48Leu) n.2016C>A c.1533C>A (p.Phe511Leu) n.2044C>A | |
| 8 | g.31090856C>G | CA370927562 | WRN | c.1743C>G (p.Phe581Leu) c.*1357C>G (n.*1357C>G) n.376C>G c.1662C>G (p.Phe554Leu) c.144C>G (p.Phe48Leu) n.2016C>G c.1533C>G (p.Phe511Leu) n.2044C>G | |
| 8 | g.31090856C>T | CA460228119 | WRN | c.1743C>T (p.Phe581=) c.*1357C>T (n.*1357C>T) n.376C>T c.1662C>T (p.Phe554=) c.144C>T (p.Phe48=) n.2016C>T c.1533C>T (p.Phe511=) n.2044C>T | |
| 8 | g.31090857C>A | CA370927566 | WRN | c.1744C>A (p.Gln582Lys) c.*1358C>A (n.*1358C>A) n.377C>A c.1663C>A (p.Gln555Lys) c.145C>A (p.Gln49Lys) n.2017C>A c.1534C>A (p.Gln512Lys) n.2045C>A | |
| 8 | g.31090857C>G | CA370927575 | WRN | c.1744C>G (p.Gln582Glu) c.*1358C>G (n.*1358C>G) n.377C>G c.1663C>G (p.Gln555Glu) c.145C>G (p.Gln49Glu) n.2017C>G c.1534C>G (p.Gln512Glu) n.2045C>G | |
| 8 | g.31090857C>T | CA4704477 | WRN | c.1744C>T (p.Gln582Ter) c.*1358C>T (n.*1358C>T) n.377C>T c.1663C>T (p.Gln555Ter) c.145C>T (p.Gln49Ter) n.2017C>T c.1534C>T (p.Gln512Ter) n.2045C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.31090858A>C | CA370927588 | WRN | c.1745A>C (p.Gln582Pro) c.*1359A>C (n.*1359A>C) n.378A>C c.1664A>C (p.Gln555Pro) c.146A>C (p.Gln49Pro) n.2018A>C c.1535A>C (p.Gln512Pro) n.2046A>C | |
| 8 | g.31090858A>G | CA370927586 | WRN | c.1745A>G (p.Gln582Arg) c.*1359A>G (n.*1359A>G) n.378A>G c.1664A>G (p.Gln555Arg) c.146A>G (p.Gln49Arg) n.2018A>G c.1535A>G (p.Gln512Arg) n.2046A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.31090858A>T | CA370927584 | WRN | c.1745A>T (p.Gln582Leu) c.*1359A>T (n.*1359A>T) n.378A>T c.1664A>T (p.Gln555Leu) c.146A>T (p.Gln49Leu) n.2018A>T c.1535A>T (p.Gln512Leu) n.2046A>T | |
| 8 | g.31090859G>A | CA460228127 | WRN | c.1746G>A (p.Gln582=) c.*1360G>A (n.*1360G>A) n.379G>A c.1665G>A (p.Gln555=) c.147G>A (p.Gln49=) n.2019G>A c.1536G>A (p.Gln512=) n.2047G>A | dbSNP gnomAD v3 gnomAD v4 |