Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.238397471T>ACA351245788TRAF3IP1c.1702T>A (p.Phe568Ile)
c.1504T>A (p.Phe502Ile)
n.713T>A
n.50T>A
c.1501T>A (p.Phe501Ile)
c.1804T>A (p.Phe602Ile)
c.1765T>A (p.Phe589Ile)
c.1732T>A (p.Phe578Ile)
c.1672T>A (p.Phe558Ile)
c.1606T>A (p.Phe536Ile)
c.670T>A (p.Phe224Ile)
n.2001T>A
c.1801T>A (p.Phe601Ile)
n.1530T>A
n.1527T>A
n.2064T>A
2g.238397471T>CCA351245789TRAF3IP1c.1702T>C (p.Phe568Leu)
c.1504T>C (p.Phe502Leu)
n.713T>C
n.50T>C
c.1501T>C (p.Phe501Leu)
c.1804T>C (p.Phe602Leu)
c.1765T>C (p.Phe589Leu)
c.1732T>C (p.Phe578Leu)
c.1672T>C (p.Phe558Leu)
c.1606T>C (p.Phe536Leu)
c.670T>C (p.Phe224Leu)
n.2001T>C
c.1801T>C (p.Phe601Leu)
n.1530T>C
n.1527T>C
n.2064T>C
2g.238397471T>GCA351245790TRAF3IP1c.1702T>G (p.Phe568Val)
c.1504T>G (p.Phe502Val)
n.713T>G
n.50T>G
c.1501T>G (p.Phe501Val)
c.1804T>G (p.Phe602Val)
c.1765T>G (p.Phe589Val)
c.1732T>G (p.Phe578Val)
c.1672T>G (p.Phe558Val)
c.1606T>G (p.Phe536Val)
c.670T>G (p.Phe224Val)
n.2001T>G
c.1801T>G (p.Phe601Val)
n.1530T>G
n.1527T>G
n.2064T>G
2g.238397472_238397473delCA2663893770TRAF3IP1c.1703_1704del (p.Phe568Ter)
c.1505_1506del (p.Phe502Ter)
n.714_715del
n.51_52del
c.1502_1503del (p.Phe501Ter)
c.1805_1806del (p.Phe602Ter)
c.1766_1767del (p.Phe589Ter)
c.1733_1734del (p.Phe578Ter)
c.1673_1674del (p.Phe558Ter)
c.1607_1608del (p.Phe536Ter)
c.671_672del (p.Phe224Ter)
n.2002_2003del
c.1802_1803del (p.Phe601Ter)
n.1531_1532del
n.1528_1529del
n.2065_2066del
gnomAD v4
2g.238397472T>ACA351245791TRAF3IP1c.1703T>A (p.Phe568Tyr)
c.1505T>A (p.Phe502Tyr)
n.714T>A
n.51T>A
c.1502T>A (p.Phe501Tyr)
c.1805T>A (p.Phe602Tyr)
c.1766T>A (p.Phe589Tyr)
c.1733T>A (p.Phe578Tyr)
c.1673T>A (p.Phe558Tyr)
c.1607T>A (p.Phe536Tyr)
c.671T>A (p.Phe224Tyr)
n.2002T>A
c.1802T>A (p.Phe601Tyr)
n.1531T>A
n.1528T>A
n.2065T>A
2g.238397472T>CCA351245792TRAF3IP1c.1703T>C (p.Phe568Ser)
c.1505T>C (p.Phe502Ser)
n.714T>C
n.51T>C
c.1502T>C (p.Phe501Ser)
c.1805T>C (p.Phe602Ser)
c.1766T>C (p.Phe589Ser)
c.1733T>C (p.Phe578Ser)
c.1673T>C (p.Phe558Ser)
c.1607T>C (p.Phe536Ser)
c.671T>C (p.Phe224Ser)
n.2002T>C
c.1802T>C (p.Phe601Ser)
n.1531T>C
n.1528T>C
n.2065T>C
gnomAD v4
2g.238397472T>GCA351245793TRAF3IP1c.1703T>G (p.Phe568Cys)
c.1505T>G (p.Phe502Cys)
n.714T>G
n.51T>G
c.1502T>G (p.Phe501Cys)
c.1805T>G (p.Phe602Cys)
c.1766T>G (p.Phe589Cys)
c.1733T>G (p.Phe578Cys)
c.1673T>G (p.Phe558Cys)
c.1607T>G (p.Phe536Cys)
c.671T>G (p.Phe224Cys)
n.2002T>G
c.1802T>G (p.Phe601Cys)
n.1531T>G
n.1528T>G
n.2065T>G
2g.238397473T>ACA351245794TRAF3IP1c.1704T>A (p.Phe568Leu)
c.1506T>A (p.Phe502Leu)
n.715T>A
n.52T>A
c.1503T>A (p.Phe501Leu)
c.1806T>A (p.Phe602Leu)
c.1767T>A (p.Phe589Leu)
c.1734T>A (p.Phe578Leu)
c.1674T>A (p.Phe558Leu)
c.1608T>A (p.Phe536Leu)
c.672T>A (p.Phe224Leu)
n.2003T>A
c.1803T>A (p.Phe601Leu)
n.1532T>A
n.1529T>A
n.2066T>A
2g.238397473T>CCA432228078TRAF3IP1c.1704T>C (p.Phe568=)
c.1506T>C (p.Phe502=)
n.715T>C
n.52T>C
c.1503T>C (p.Phe501=)
c.1806T>C (p.Phe602=)
c.1767T>C (p.Phe589=)
c.1734T>C (p.Phe578=)
c.1674T>C (p.Phe558=)
c.1608T>C (p.Phe536=)
c.672T>C (p.Phe224=)
n.2003T>C
c.1803T>C (p.Phe601=)
n.1532T>C
n.1529T>C
n.2066T>C
2g.238397473T>GCA351245795TRAF3IP1c.1704T>G (p.Phe568Leu)
c.1506T>G (p.Phe502Leu)
n.715T>G
n.52T>G
c.1503T>G (p.Phe501Leu)
c.1806T>G (p.Phe602Leu)
c.1767T>G (p.Phe589Leu)
c.1734T>G (p.Phe578Leu)
c.1674T>G (p.Phe558Leu)
c.1608T>G (p.Phe536Leu)
c.672T>G (p.Phe224Leu)
n.2003T>G
c.1803T>G (p.Phe601Leu)
n.1532T>G
n.1529T>G
n.2066T>G
2g.238397474G>ACA351245796TRAF3IP1c.1705G>A (p.Glu569Lys)
c.1507G>A (p.Glu503Lys)
n.716G>A
n.53G>A
c.1504G>A (p.Glu502Lys)
c.1807G>A (p.Glu603Lys)
c.1768G>A (p.Glu590Lys)
c.1735G>A (p.Glu579Lys)
c.1675G>A (p.Glu559Lys)
c.1609G>A (p.Glu537Lys)
c.673G>A (p.Glu225Lys)
n.2004G>A
c.1804G>A (p.Glu602Lys)
n.1533G>A
n.1530G>A
n.2067G>A
2g.238397474G>CCA351245797TRAF3IP1c.1705G>C (p.Glu569Gln)
c.1507G>C (p.Glu503Gln)
n.716G>C
n.53G>C
c.1504G>C (p.Glu502Gln)
c.1807G>C (p.Glu603Gln)
c.1768G>C (p.Glu590Gln)
c.1735G>C (p.Glu579Gln)
c.1675G>C (p.Glu559Gln)
c.1609G>C (p.Glu537Gln)
c.673G>C (p.Glu225Gln)
n.2004G>C
c.1804G>C (p.Glu602Gln)
n.1533G>C
n.1530G>C
n.2067G>C
2g.238397474G>TCA351245798TRAF3IP1c.1705G>T (p.Glu569Ter)
c.1507G>T (p.Glu503Ter)
n.716G>T
n.53G>T
c.1504G>T (p.Glu502Ter)
c.1807G>T (p.Glu603Ter)
c.1768G>T (p.Glu590Ter)
c.1735G>T (p.Glu579Ter)
c.1675G>T (p.Glu559Ter)
c.1609G>T (p.Glu537Ter)
c.673G>T (p.Glu225Ter)
n.2004G>T
c.1804G>T (p.Glu602Ter)
n.1533G>T
n.1530G>T
n.2067G>T
2g.238397475A>CCA351245801TRAF3IP1c.1706A>C (p.Glu569Ala)
c.1508A>C (p.Glu503Ala)
n.717A>C
n.54A>C
c.1505A>C (p.Glu502Ala)
c.1808A>C (p.Glu603Ala)
c.1769A>C (p.Glu590Ala)
c.1736A>C (p.Glu579Ala)
c.1676A>C (p.Glu559Ala)
c.1610A>C (p.Glu537Ala)
c.674A>C (p.Glu225Ala)
n.2005A>C
c.1805A>C (p.Glu602Ala)
n.1534A>C
n.1531A>C
n.2068A>C
2g.238397475A>GCA351245800TRAF3IP1c.1706A>G (p.Glu569Gly)
c.1508A>G (p.Glu503Gly)
n.717A>G
n.54A>G
c.1505A>G (p.Glu502Gly)
c.1808A>G (p.Glu603Gly)
c.1769A>G (p.Glu590Gly)
c.1736A>G (p.Glu579Gly)
c.1676A>G (p.Glu559Gly)
c.1610A>G (p.Glu537Gly)
c.674A>G (p.Glu225Gly)
n.2005A>G
c.1805A>G (p.Glu602Gly)
n.1534A>G
n.1531A>G
n.2068A>G
2g.238397475A>TCA351245799TRAF3IP1c.1706A>T (p.Glu569Val)
c.1508A>T (p.Glu503Val)
n.717A>T
n.54A>T
c.1505A>T (p.Glu502Val)
c.1808A>T (p.Glu603Val)
c.1769A>T (p.Glu590Val)
c.1736A>T (p.Glu579Val)
c.1676A>T (p.Glu559Val)
c.1610A>T (p.Glu537Val)
c.674A>T (p.Glu225Val)
n.2005A>T
c.1805A>T (p.Glu602Val)
n.1534A>T
n.1531A>T
n.2068A>T
2g.238397476G>ACA2198552TRAF3IP1c.1707G>A (p.Glu569=)
c.1509G>A (p.Glu503=)
n.718G>A
n.55G>A
c.1506G>A (p.Glu502=)
c.1809G>A (p.Glu603=)
c.1770G>A (p.Glu590=)
c.1737G>A (p.Glu579=)
c.1677G>A (p.Glu559=)
c.1611G>A (p.Glu537=)
c.675G>A (p.Glu225=)
n.2006G>A
c.1806G>A (p.Glu602=)
n.1535G>A
n.1532G>A
n.2069G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397476G>CCA351245802TRAF3IP1c.1707G>C (p.Glu569Asp)
c.1509G>C (p.Glu503Asp)
n.718G>C
n.55G>C
c.1506G>C (p.Glu502Asp)
c.1809G>C (p.Glu603Asp)
c.1770G>C (p.Glu590Asp)
c.1737G>C (p.Glu579Asp)
c.1677G>C (p.Glu559Asp)
c.1611G>C (p.Glu537Asp)
c.675G>C (p.Glu225Asp)
n.2006G>C
c.1806G>C (p.Glu602Asp)
n.1535G>C
n.1532G>C
n.2069G>C
2g.238397476G=CA1338105414TRAF3IP1c.1707G= (p.Glu569=)
c.1509G= (p.Glu503=)
n.718G=
n.55G=
c.1506G= (p.Glu502=)
c.1809G= (p.Glu603=)
c.1770G= (p.Glu590=)
c.1737G= (p.Glu579=)
c.1677G= (p.Glu559=)
c.1611G= (p.Glu537=)
c.675G= (p.Glu225=)
n.2006G=
c.1806G= (p.Glu602=)
n.1535G=
n.1532G=
n.2069G=
2g.238397476G>TCA351245803TRAF3IP1c.1707G>T (p.Glu569Asp)
c.1509G>T (p.Glu503Asp)
n.718G>T
n.55G>T
c.1506G>T (p.Glu502Asp)
c.1809G>T (p.Glu603Asp)
c.1770G>T (p.Glu590Asp)
c.1737G>T (p.Glu579Asp)
c.1677G>T (p.Glu559Asp)
c.1611G>T (p.Glu537Asp)
c.675G>T (p.Glu225Asp)
n.2006G>T
c.1806G>T (p.Glu602Asp)
n.1535G>T
n.1532G>T
n.2069G>T
dbSNP gnomAD v4
2g.238397477T>ACA351245804TRAF3IP1c.1708T>A (p.Ser570Thr)
c.1510T>A (p.Ser504Thr)
n.719T>A
n.56T>A
c.1507T>A (p.Ser503Thr)
c.1810T>A (p.Ser604Thr)
c.1771T>A (p.Ser591Thr)
c.1738T>A (p.Ser580Thr)
c.1678T>A (p.Ser560Thr)
c.1612T>A (p.Ser538Thr)
c.676T>A (p.Ser226Thr)
n.2007T>A
c.1807T>A (p.Ser603Thr)
n.1536T>A
n.1533T>A
n.2070T>A
2g.238397477T>CCA351245805TRAF3IP1c.1708T>C (p.Ser570Pro)
c.1510T>C (p.Ser504Pro)
n.719T>C
n.56T>C
c.1507T>C (p.Ser503Pro)
c.1810T>C (p.Ser604Pro)
c.1771T>C (p.Ser591Pro)
c.1738T>C (p.Ser580Pro)
c.1678T>C (p.Ser560Pro)
c.1612T>C (p.Ser538Pro)
c.676T>C (p.Ser226Pro)
n.2007T>C
c.1807T>C (p.Ser603Pro)
n.1536T>C
n.1533T>C
n.2070T>C
2g.238397477T>GCA351245806TRAF3IP1c.1708T>G (p.Ser570Ala)
c.1510T>G (p.Ser504Ala)
n.719T>G
n.56T>G
c.1507T>G (p.Ser503Ala)
c.1810T>G (p.Ser604Ala)
c.1771T>G (p.Ser591Ala)
c.1738T>G (p.Ser580Ala)
c.1678T>G (p.Ser560Ala)
c.1612T>G (p.Ser538Ala)
c.676T>G (p.Ser226Ala)
n.2007T>G
c.1807T>G (p.Ser603Ala)
n.1536T>G
n.1533T>G
n.2070T>G
gnomAD v4
2g.238397478C>ACA351245807TRAF3IP1c.1709C>A (p.Ser570Ter)
c.1511C>A (p.Ser504Ter)
n.720C>A
n.57C>A
c.1508C>A (p.Ser503Ter)
c.1811C>A (p.Ser604Ter)
c.1772C>A (p.Ser591Ter)
c.1739C>A (p.Ser580Ter)
c.1679C>A (p.Ser560Ter)
c.1613C>A (p.Ser538Ter)
c.677C>A (p.Ser226Ter)
n.2008C>A
c.1808C>A (p.Ser603Ter)
n.1537C>A
n.1534C>A
n.2071C>A
gnomAD v4
2g.238397478C=CA1338105415TRAF3IP1c.1709C= (p.Ser570=)
c.1511C= (p.Ser504=)
n.720C=
n.57C=
c.1508C= (p.Ser503=)
c.1811C= (p.Ser604=)
c.1772C= (p.Ser591=)
c.1739C= (p.Ser580=)
c.1679C= (p.Ser560=)
c.1613C= (p.Ser538=)
c.677C= (p.Ser226=)
n.2008C=
c.1808C= (p.Ser603=)
n.1537C=
n.1534C=
n.2071C=
2g.238397478C>GCA351245808TRAF3IP1c.1709C>G (p.Ser570Trp)
c.1511C>G (p.Ser504Trp)
n.720C>G
n.57C>G
c.1508C>G (p.Ser503Trp)
c.1811C>G (p.Ser604Trp)
c.1772C>G (p.Ser591Trp)
c.1739C>G (p.Ser580Trp)
c.1679C>G (p.Ser560Trp)
c.1613C>G (p.Ser538Trp)
c.677C>G (p.Ser226Trp)
n.2008C>G
c.1808C>G (p.Ser603Trp)
n.1537C>G
n.1534C>G
n.2071C>G
gnomAD v4
2g.238397478C>TCA2198553TRAF3IP1c.1709C>T (p.Ser570Leu)
c.1511C>T (p.Ser504Leu)
n.720C>T
n.57C>T
c.1508C>T (p.Ser503Leu)
c.1811C>T (p.Ser604Leu)
c.1772C>T (p.Ser591Leu)
c.1739C>T (p.Ser580Leu)
c.1679C>T (p.Ser560Leu)
c.1613C>T (p.Ser538Leu)
c.677C>T (p.Ser226Leu)
n.2008C>T
c.1808C>T (p.Ser603Leu)
n.1537C>T
n.1534C>T
n.2071C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397479G>ACA2198554TRAF3IP1c.1710G>A (p.Ser570=)
c.1512G>A (p.Ser504=)
n.721G>A
n.58G>A
c.1509G>A (p.Ser503=)
c.1812G>A (p.Ser604=)
c.1773G>A (p.Ser591=)
c.1740G>A (p.Ser580=)
c.1680G>A (p.Ser560=)
c.1614G>A (p.Ser538=)
c.678G>A (p.Ser226=)
n.2009G>A
c.1809G>A (p.Ser603=)
n.1538G>A
n.1535G>A
n.2072G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397479G>CCA432228080TRAF3IP1c.1710G>C (p.Ser570=)
c.1512G>C (p.Ser504=)
n.721G>C
n.58G>C
c.1509G>C (p.Ser503=)
c.1812G>C (p.Ser604=)
c.1773G>C (p.Ser591=)
c.1740G>C (p.Ser580=)
c.1680G>C (p.Ser560=)
c.1614G>C (p.Ser538=)
c.678G>C (p.Ser226=)
n.2009G>C
c.1809G>C (p.Ser603=)
n.1538G>C
n.1535G>C
n.2072G>C
2g.238397479G=CA1338105416TRAF3IP1c.1710G= (p.Ser570=)
c.1512G= (p.Ser504=)
n.721G=
n.58G=
c.1509G= (p.Ser503=)
c.1812G= (p.Ser604=)
c.1773G= (p.Ser591=)
c.1740G= (p.Ser580=)
c.1680G= (p.Ser560=)
c.1614G= (p.Ser538=)
c.678G= (p.Ser226=)
n.2009G=
c.1809G= (p.Ser603=)
n.1538G=
n.1535G=
n.2072G=
2g.238397479G>TCA432228079TRAF3IP1c.1710G>T (p.Ser570=)
c.1512G>T (p.Ser504=)
n.721G>T
n.58G>T
c.1509G>T (p.Ser503=)
c.1812G>T (p.Ser604=)
c.1773G>T (p.Ser591=)
c.1740G>T (p.Ser580=)
c.1680G>T (p.Ser560=)
c.1614G>T (p.Ser538=)
c.678G>T (p.Ser226=)
n.2009G>T
c.1809G>T (p.Ser603=)
n.1538G>T
n.1535G>T
n.2072G>T
2g.238397480G>ACA2198555TRAF3IP1c.1711G>A (p.Ala571Thr)
c.1513G>A (p.Ala505Thr)
n.722G>A
n.59G>A
c.1510G>A (p.Ala504Thr)
c.1813G>A (p.Ala605Thr)
c.1774G>A (p.Ala592Thr)
c.1741G>A (p.Ala581Thr)
c.1681G>A (p.Ala561Thr)
c.1615G>A (p.Ala539Thr)
c.679G>A (p.Ala227Thr)
n.2010G>A
c.1810G>A (p.Ala604Thr)
n.1539G>A
n.1536G>A
n.2073G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397480G>CCA351245809TRAF3IP1c.1711G>C (p.Ala571Pro)
c.1513G>C (p.Ala505Pro)
n.722G>C
n.59G>C
c.1510G>C (p.Ala504Pro)
c.1813G>C (p.Ala605Pro)
c.1774G>C (p.Ala592Pro)
c.1741G>C (p.Ala581Pro)
c.1681G>C (p.Ala561Pro)
c.1615G>C (p.Ala539Pro)
c.679G>C (p.Ala227Pro)
n.2010G>C
c.1810G>C (p.Ala604Pro)
n.1539G>C
n.1536G>C
n.2073G>C
2g.238397480G=CA1338105417TRAF3IP1c.1711G= (p.Ala571=)
c.1513G= (p.Ala505=)
n.722G=
n.59G=
c.1510G= (p.Ala504=)
c.1813G= (p.Ala605=)
c.1774G= (p.Ala592=)
c.1741G= (p.Ala581=)
c.1681G= (p.Ala561=)
c.1615G= (p.Ala539=)
c.679G= (p.Ala227=)
n.2010G=
c.1810G= (p.Ala604=)
n.1539G=
n.1536G=
n.2073G=
2g.238397480G>TCA351245810TRAF3IP1c.1711G>T (p.Ala571Ser)
c.1513G>T (p.Ala505Ser)
n.722G>T
n.59G>T
c.1510G>T (p.Ala504Ser)
c.1813G>T (p.Ala605Ser)
c.1774G>T (p.Ala592Ser)
c.1741G>T (p.Ala581Ser)
c.1681G>T (p.Ala561Ser)
c.1615G>T (p.Ala539Ser)
c.679G>T (p.Ala227Ser)
n.2010G>T
c.1810G>T (p.Ala604Ser)
n.1539G>T
n.1536G>T
n.2073G>T
2g.238397481C>ACA351245813TRAF3IP1c.1712C>A (p.Ala571Glu)
c.1514C>A (p.Ala505Glu)
n.723C>A
n.60C>A
c.1511C>A (p.Ala504Glu)
c.1814C>A (p.Ala605Glu)
c.1775C>A (p.Ala592Glu)
c.1742C>A (p.Ala581Glu)
c.1682C>A (p.Ala561Glu)
c.1616C>A (p.Ala539Glu)
c.680C>A (p.Ala227Glu)
n.2011C>A
c.1811C>A (p.Ala604Glu)
n.1540C>A
n.1537C>A
n.2074C>A
2g.238397481C>GCA351245812TRAF3IP1c.1712C>G (p.Ala571Gly)
c.1514C>G (p.Ala505Gly)
n.723C>G
n.60C>G
c.1511C>G (p.Ala504Gly)
c.1814C>G (p.Ala605Gly)
c.1775C>G (p.Ala592Gly)
c.1742C>G (p.Ala581Gly)
c.1682C>G (p.Ala561Gly)
c.1616C>G (p.Ala539Gly)
c.680C>G (p.Ala227Gly)
n.2011C>G
c.1811C>G (p.Ala604Gly)
n.1540C>G
n.1537C>G
n.2074C>G
ClinVar gnomAD v4
2g.238397481C>TCA351245811TRAF3IP1c.1712C>T (p.Ala571Val)
c.1514C>T (p.Ala505Val)
n.723C>T
n.60C>T
c.1511C>T (p.Ala504Val)
c.1814C>T (p.Ala605Val)
c.1775C>T (p.Ala592Val)
c.1742C>T (p.Ala581Val)
c.1682C>T (p.Ala561Val)
c.1616C>T (p.Ala539Val)
c.680C>T (p.Ala227Val)
n.2011C>T
c.1811C>T (p.Ala604Val)
n.1540C>T
n.1537C>T
n.2074C>T
2g.238397482A=CA1338105418TRAF3IP1c.1713A= (p.Ala571=)
c.1515A= (p.Ala505=)
n.724A=
n.61A=
c.1512A= (p.Ala504=)
c.1815A= (p.Ala605=)
c.1776A= (p.Ala592=)
c.1743A= (p.Ala581=)
c.1683A= (p.Ala561=)
c.1617A= (p.Ala539=)
c.681A= (p.Ala227=)
n.2012A=
c.1812A= (p.Ala604=)
n.1541A=
n.1538A=
n.2075A=
2g.238397482A>CCA432228082TRAF3IP1c.1713A>C (p.Ala571=)
c.1515A>C (p.Ala505=)
n.724A>C
n.61A>C
c.1512A>C (p.Ala504=)
c.1815A>C (p.Ala605=)
c.1776A>C (p.Ala592=)
c.1743A>C (p.Ala581=)
c.1683A>C (p.Ala561=)
c.1617A>C (p.Ala539=)
c.681A>C (p.Ala227=)
n.2012A>C
c.1812A>C (p.Ala604=)
n.1541A>C
n.1538A>C
n.2075A>C
2g.238397482A>GCA2198556TRAF3IP1c.1713A>G (p.Ala571=)
c.1515A>G (p.Ala505=)
n.724A>G
n.61A>G
c.1512A>G (p.Ala504=)
c.1815A>G (p.Ala605=)
c.1776A>G (p.Ala592=)
c.1743A>G (p.Ala581=)
c.1683A>G (p.Ala561=)
c.1617A>G (p.Ala539=)
c.681A>G (p.Ala227=)
n.2012A>G
c.1812A>G (p.Ala604=)
n.1541A>G
n.1538A>G
n.2075A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397482A>TCA432228081TRAF3IP1c.1713A>T (p.Ala571=)
c.1515A>T (p.Ala505=)
n.724A>T
n.61A>T
c.1512A>T (p.Ala504=)
c.1815A>T (p.Ala605=)
c.1776A>T (p.Ala592=)
c.1743A>T (p.Ala581=)
c.1683A>T (p.Ala561=)
c.1617A>T (p.Ala539=)
c.681A>T (p.Ala227=)
n.2012A>T
c.1812A>T (p.Ala604=)
n.1541A>T
n.1538A>T
n.2075A>T
dbSNP
2g.238397483T>ACA351245814TRAF3IP1c.1714T>A (p.Trp572Arg)
c.1516T>A (p.Trp506Arg)
n.725T>A
n.62T>A
c.1513T>A (p.Trp505Arg)
c.1816T>A (p.Trp606Arg)
c.1777T>A (p.Trp593Arg)
c.1744T>A (p.Trp582Arg)
c.1684T>A (p.Trp562Arg)
c.1618T>A (p.Trp540Arg)
c.682T>A (p.Trp228Arg)
n.2013T>A
c.1813T>A (p.Trp605Arg)
n.1542T>A
n.1539T>A
n.2076T>A
2g.238397483T>CCA2198557TRAF3IP1c.1714T>C (p.Trp572Arg)
c.1516T>C (p.Trp506Arg)
n.725T>C
n.62T>C
c.1513T>C (p.Trp505Arg)
c.1816T>C (p.Trp606Arg)
c.1777T>C (p.Trp593Arg)
c.1744T>C (p.Trp582Arg)
c.1684T>C (p.Trp562Arg)
c.1618T>C (p.Trp540Arg)
c.682T>C (p.Trp228Arg)
n.2013T>C
c.1813T>C (p.Trp605Arg)
n.1542T>C
n.1539T>C
n.2076T>C
dbSNP ExAC gnomAD v2
2g.238397483T>GCA351245815TRAF3IP1c.1714T>G (p.Trp572Gly)
c.1516T>G (p.Trp506Gly)
n.725T>G
n.62T>G
c.1513T>G (p.Trp505Gly)
c.1816T>G (p.Trp606Gly)
c.1777T>G (p.Trp593Gly)
c.1744T>G (p.Trp582Gly)
c.1684T>G (p.Trp562Gly)
c.1618T>G (p.Trp540Gly)
c.682T>G (p.Trp228Gly)
n.2013T>G
c.1813T>G (p.Trp605Gly)
n.1542T>G
n.1539T>G
n.2076T>G
2g.238397483T=CA1338105419TRAF3IP1c.1714T= (p.Trp572=)
c.1516T= (p.Trp506=)
n.725T=
n.62T=
c.1513T= (p.Trp505=)
c.1816T= (p.Trp606=)
c.1777T= (p.Trp593=)
c.1744T= (p.Trp582=)
c.1684T= (p.Trp562=)
c.1618T= (p.Trp540=)
c.682T= (p.Trp228=)
n.2013T=
c.1813T= (p.Trp605=)
n.1542T=
n.1539T=
n.2076T=
2g.238397484G>ACA351245816TRAF3IP1c.1715G>A (p.Trp572Ter)
c.1517G>A (p.Trp506Ter)
n.726G>A
n.63G>A
c.1514G>A (p.Trp505Ter)
c.1817G>A (p.Trp606Ter)
c.1778G>A (p.Trp593Ter)
c.1745G>A (p.Trp582Ter)
c.1685G>A (p.Trp562Ter)
c.1619G>A (p.Trp540Ter)
c.683G>A (p.Trp228Ter)
n.2014G>A
c.1814G>A (p.Trp605Ter)
n.1543G>A
n.1540G>A
n.2077G>A
2g.238397484G>CCA351245817TRAF3IP1c.1715G>C (p.Trp572Ser)
c.1517G>C (p.Trp506Ser)
n.726G>C
n.63G>C
c.1514G>C (p.Trp505Ser)
c.1817G>C (p.Trp606Ser)
c.1778G>C (p.Trp593Ser)
c.1745G>C (p.Trp582Ser)
c.1685G>C (p.Trp562Ser)
c.1619G>C (p.Trp540Ser)
c.683G>C (p.Trp228Ser)
n.2014G>C
c.1814G>C (p.Trp605Ser)
n.1543G>C
n.1540G>C
n.2077G>C
2g.238397484G>TCA351245818TRAF3IP1c.1715G>T (p.Trp572Leu)
c.1517G>T (p.Trp506Leu)
n.726G>T
n.63G>T
c.1514G>T (p.Trp505Leu)
c.1817G>T (p.Trp606Leu)
c.1778G>T (p.Trp593Leu)
c.1745G>T (p.Trp582Leu)
c.1685G>T (p.Trp562Leu)
c.1619G>T (p.Trp540Leu)
c.683G>T (p.Trp228Leu)
n.2014G>T
c.1814G>T (p.Trp605Leu)
n.1543G>T
n.1540G>T
n.2077G>T
2g.238397484_238397487delinsGGAACA1338105420TRAF3IP1c.1715_1718delinsGGAA (p.Trp572=)
c.1517_1520delinsGGAA (p.Trp506=)
n.726_729delinsGGAA
n.63_66delinsGGAA
c.1514_1517delinsGGAA (p.Trp505=)
c.1817_1820delinsGGAA (p.Trp606=)
c.1778_1781delinsGGAA (p.Trp593=)
c.1745_1748delinsGGAA (p.Trp582=)
c.1685_1688delinsGGAA (p.Trp562=)
c.1619_1622delinsGGAA (p.Trp540=)
c.683_686delinsGGAA (p.Trp228=)
n.2014_2017delinsGGAA
c.1814_1817delinsGGAA (p.Trp605=)
n.1543_1546delinsGGAA
n.1540_1543delinsGGAA
n.2077_2080delinsGGAA
2g.238397485G>ACA351245819TRAF3IP1c.1716G>A (p.Trp572Ter)
c.1518G>A (p.Trp506Ter)
n.727G>A
n.64G>A
c.1515G>A (p.Trp505Ter)
c.1818G>A (p.Trp606Ter)
c.1779G>A (p.Trp593Ter)
c.1746G>A (p.Trp582Ter)
c.1686G>A (p.Trp562Ter)
c.1620G>A (p.Trp540Ter)
c.684G>A (p.Trp228Ter)
n.2015G>A
c.1815G>A (p.Trp605Ter)
n.1544G>A
n.1541G>A
n.2078G>A
dbSNP gnomAD v4
2g.238397485G>CCA351245820TRAF3IP1c.1716G>C (p.Trp572Cys)
c.1518G>C (p.Trp506Cys)
n.727G>C
n.64G>C
c.1515G>C (p.Trp505Cys)
c.1818G>C (p.Trp606Cys)
c.1779G>C (p.Trp593Cys)
c.1746G>C (p.Trp582Cys)
c.1686G>C (p.Trp562Cys)
c.1620G>C (p.Trp540Cys)
c.684G>C (p.Trp228Cys)
n.2015G>C
c.1815G>C (p.Trp605Cys)
n.1544G>C
n.1541G>C
n.2078G>C
2g.238397485G=CA1338105421TRAF3IP1c.1716G= (p.Trp572=)
c.1518G= (p.Trp506=)
n.727G=
n.64G=
c.1515G= (p.Trp505=)
c.1818G= (p.Trp606=)
c.1779G= (p.Trp593=)
c.1746G= (p.Trp582=)
c.1686G= (p.Trp562=)
c.1620G= (p.Trp540=)
c.684G= (p.Trp228=)
n.2015G=
c.1815G= (p.Trp605=)
n.1544G=
n.1541G=
n.2078G=
2g.238397485G>TCA2198558TRAF3IP1c.1716G>T (p.Trp572Cys)
c.1518G>T (p.Trp506Cys)
n.727G>T
n.64G>T
c.1515G>T (p.Trp505Cys)
c.1818G>T (p.Trp606Cys)
c.1779G>T (p.Trp593Cys)
c.1746G>T (p.Trp582Cys)
c.1686G>T (p.Trp562Cys)
c.1620G>T (p.Trp540Cys)
c.684G>T (p.Trp228Cys)
n.2015G>T
c.1815G>T (p.Trp605Cys)
n.1544G>T
n.1541G>T
n.2078G>T
dbSNP ExAC
2g.238397489_238397491delCA1338105422TRAF3IP1c.1720_1722del (p.Lys574del)
c.1522_1524del (p.Lys508del)
n.731_733del
n.68_70del
c.1519_1521del (p.Lys507del)
c.1822_1824del (p.Lys608del)
c.1783_1785del (p.Lys595del)
c.1750_1752del (p.Lys584del)
c.1690_1692del (p.Lys564del)
c.1624_1626del (p.Lys542del)
c.688_690del (p.Lys230del)
n.2019_2021del
c.1819_1821del (p.Lys607del)
n.1548_1550del
n.1545_1547del
n.2082_2084del
dbSNP
2g.238397486A>CCA351245821TRAF3IP1c.1717A>C (p.Lys573Gln)
c.1519A>C (p.Lys507Gln)
n.728A>C
n.65A>C
c.1516A>C (p.Lys506Gln)
c.1819A>C (p.Lys607Gln)
c.1780A>C (p.Lys594Gln)
c.1747A>C (p.Lys583Gln)
c.1687A>C (p.Lys563Gln)
c.1621A>C (p.Lys541Gln)
c.685A>C (p.Lys229Gln)
n.2016A>C
c.1816A>C (p.Lys606Gln)
n.1545A>C
n.1542A>C
n.2079A>C
2g.238397486A>GCA351245822TRAF3IP1c.1717A>G (p.Lys573Glu)
c.1519A>G (p.Lys507Glu)
n.728A>G
n.65A>G
c.1516A>G (p.Lys506Glu)
c.1819A>G (p.Lys607Glu)
c.1780A>G (p.Lys594Glu)
c.1747A>G (p.Lys583Glu)
c.1687A>G (p.Lys563Glu)
c.1621A>G (p.Lys541Glu)
c.685A>G (p.Lys229Glu)
n.2016A>G
c.1816A>G (p.Lys606Glu)
n.1545A>G
n.1542A>G
n.2079A>G
2g.238397486A>TCA351245823TRAF3IP1c.1717A>T (p.Lys573Ter)
c.1519A>T (p.Lys507Ter)
n.728A>T
n.65A>T
c.1516A>T (p.Lys506Ter)
c.1819A>T (p.Lys607Ter)
c.1780A>T (p.Lys594Ter)
c.1747A>T (p.Lys583Ter)
c.1687A>T (p.Lys563Ter)
c.1621A>T (p.Lys541Ter)
c.685A>T (p.Lys229Ter)
n.2016A>T
c.1816A>T (p.Lys606Ter)
n.1545A>T
n.1542A>T
n.2079A>T
2g.238397487A=CA1338105423TRAF3IP1c.1718A= (p.Lys573=)
c.1520A= (p.Lys507=)
n.729A=
n.66A=
c.1517A= (p.Lys506=)
c.1820A= (p.Lys607=)
c.1781A= (p.Lys594=)
c.1748A= (p.Lys583=)
c.1688A= (p.Lys563=)
c.1622A= (p.Lys541=)
c.686A= (p.Lys229=)
n.2017A=
c.1817A= (p.Lys606=)
n.1546A=
n.1543A=
n.2080A=
2g.238397487A>CCA351245826TRAF3IP1c.1718A>C (p.Lys573Thr)
c.1520A>C (p.Lys507Thr)
n.729A>C
n.66A>C
c.1517A>C (p.Lys506Thr)
c.1820A>C (p.Lys607Thr)
c.1781A>C (p.Lys594Thr)
c.1748A>C (p.Lys583Thr)
c.1688A>C (p.Lys563Thr)
c.1622A>C (p.Lys541Thr)
c.686A>C (p.Lys229Thr)
n.2017A>C
c.1817A>C (p.Lys606Thr)
n.1546A>C
n.1543A>C
n.2080A>C
2g.238397487A>GCA351245825TRAF3IP1c.1718A>G (p.Lys573Arg)
c.1520A>G (p.Lys507Arg)
n.729A>G
n.66A>G
c.1517A>G (p.Lys506Arg)
c.1820A>G (p.Lys607Arg)
c.1781A>G (p.Lys594Arg)
c.1748A>G (p.Lys583Arg)
c.1688A>G (p.Lys563Arg)
c.1622A>G (p.Lys541Arg)
c.686A>G (p.Lys229Arg)
n.2017A>G
c.1817A>G (p.Lys606Arg)
n.1546A>G
n.1543A>G
n.2080A>G
dbSNP gnomAD v2 gnomAD v4
2g.238397487A>TCA351245824TRAF3IP1c.1718A>T (p.Lys573Met)
c.1520A>T (p.Lys507Met)
n.729A>T
n.66A>T
c.1517A>T (p.Lys506Met)
c.1820A>T (p.Lys607Met)
c.1781A>T (p.Lys594Met)
c.1748A>T (p.Lys583Met)
c.1688A>T (p.Lys563Met)
c.1622A>T (p.Lys541Met)
c.686A>T (p.Lys229Met)
n.2017A>T
c.1817A>T (p.Lys606Met)
n.1546A>T
n.1543A>T
n.2080A>T
2g.238397488G>ACA432228083TRAF3IP1c.1719G>A (p.Lys573=)
c.1521G>A (p.Lys507=)
n.730G>A
n.67G>A
c.1518G>A (p.Lys506=)
c.1821G>A (p.Lys607=)
c.1782G>A (p.Lys594=)
c.1749G>A (p.Lys583=)
c.1689G>A (p.Lys563=)
c.1623G>A (p.Lys541=)
c.687G>A (p.Lys229=)
n.2018G>A
c.1818G>A (p.Lys606=)
n.1547G>A
n.1544G>A
n.2081G>A
2g.238397488G>CCA351245827TRAF3IP1c.1719G>C (p.Lys573Asn)
c.1521G>C (p.Lys507Asn)
n.730G>C
n.67G>C
c.1518G>C (p.Lys506Asn)
c.1821G>C (p.Lys607Asn)
c.1782G>C (p.Lys594Asn)
c.1749G>C (p.Lys583Asn)
c.1689G>C (p.Lys563Asn)
c.1623G>C (p.Lys541Asn)
c.687G>C (p.Lys229Asn)
n.2018G>C
c.1818G>C (p.Lys606Asn)
n.1547G>C
n.1544G>C
n.2081G>C
2g.238397488G>TCA351245828TRAF3IP1c.1719G>T (p.Lys573Asn)
c.1521G>T (p.Lys507Asn)
n.730G>T
n.67G>T
c.1518G>T (p.Lys506Asn)
c.1821G>T (p.Lys607Asn)
c.1782G>T (p.Lys594Asn)
c.1749G>T (p.Lys583Asn)
c.1689G>T (p.Lys563Asn)
c.1623G>T (p.Lys541Asn)
c.687G>T (p.Lys229Asn)
n.2018G>T
c.1818G>T (p.Lys606Asn)
n.1547G>T
n.1544G>T
n.2081G>T
2g.238397489A=CA1338105424TRAF3IP1c.1720A= (p.Lys574=)
c.1522A= (p.Lys508=)
n.731A=
n.68A=
c.1519A= (p.Lys507=)
c.1822A= (p.Lys608=)
c.1783A= (p.Lys595=)
c.1750A= (p.Lys584=)
c.1690A= (p.Lys564=)
c.1624A= (p.Lys542=)
c.688A= (p.Lys230=)
n.2019A=
c.1819A= (p.Lys607=)
n.1548A=
n.1545A=
n.2082A=
2g.238397489A>CCA351245829TRAF3IP1c.1720A>C (p.Lys574Gln)
c.1522A>C (p.Lys508Gln)
n.731A>C
n.68A>C
c.1519A>C (p.Lys507Gln)
c.1822A>C (p.Lys608Gln)
c.1783A>C (p.Lys595Gln)
c.1750A>C (p.Lys584Gln)
c.1690A>C (p.Lys564Gln)
c.1624A>C (p.Lys542Gln)
c.688A>C (p.Lys230Gln)
n.2019A>C
c.1819A>C (p.Lys607Gln)
n.1548A>C
n.1545A>C
n.2082A>C
2g.238397489A>GCA67990694TRAF3IP1c.1720A>G (p.Lys574Glu)
c.1522A>G (p.Lys508Glu)
n.731A>G
n.68A>G
c.1519A>G (p.Lys507Glu)
c.1822A>G (p.Lys608Glu)
c.1783A>G (p.Lys595Glu)
c.1750A>G (p.Lys584Glu)
c.1690A>G (p.Lys564Glu)
c.1624A>G (p.Lys542Glu)
c.688A>G (p.Lys230Glu)
n.2019A>G
c.1819A>G (p.Lys607Glu)
n.1548A>G
n.1545A>G
n.2082A>G
dbSNP gnomAD v4
2g.238397489A>TCA351245830TRAF3IP1c.1720A>T (p.Lys574Ter)
c.1522A>T (p.Lys508Ter)
n.731A>T
n.68A>T
c.1519A>T (p.Lys507Ter)
c.1822A>T (p.Lys608Ter)
c.1783A>T (p.Lys595Ter)
c.1750A>T (p.Lys584Ter)
c.1690A>T (p.Lys564Ter)
c.1624A>T (p.Lys542Ter)
c.688A>T (p.Lys230Ter)
n.2019A>T
c.1819A>T (p.Lys607Ter)
n.1548A>T
n.1545A>T
n.2082A>T
2g.238397490A>CCA351245831TRAF3IP1c.1721A>C (p.Lys574Thr)
c.1523A>C (p.Lys508Thr)
n.732A>C
n.69A>C
c.1520A>C (p.Lys507Thr)
c.1823A>C (p.Lys608Thr)
c.1784A>C (p.Lys595Thr)
c.1751A>C (p.Lys584Thr)
c.1691A>C (p.Lys564Thr)
c.1625A>C (p.Lys542Thr)
c.689A>C (p.Lys230Thr)
n.2020A>C
c.1820A>C (p.Lys607Thr)
n.1549A>C
n.1546A>C
n.2083A>C
ClinVar gnomAD v4
2g.238397490A>GCA351245832TRAF3IP1c.1721A>G (p.Lys574Arg)
c.1523A>G (p.Lys508Arg)
n.732A>G
n.69A>G
c.1520A>G (p.Lys507Arg)
c.1823A>G (p.Lys608Arg)
c.1784A>G (p.Lys595Arg)
c.1751A>G (p.Lys584Arg)
c.1691A>G (p.Lys564Arg)
c.1625A>G (p.Lys542Arg)
c.689A>G (p.Lys230Arg)
n.2020A>G
c.1820A>G (p.Lys607Arg)
n.1549A>G
n.1546A>G
n.2083A>G
2g.238397490A>TCA351245833TRAF3IP1c.1721A>T (p.Lys574Met)
c.1523A>T (p.Lys508Met)
n.732A>T
n.69A>T
c.1520A>T (p.Lys507Met)
c.1823A>T (p.Lys608Met)
c.1784A>T (p.Lys595Met)
c.1751A>T (p.Lys584Met)
c.1691A>T (p.Lys564Met)
c.1625A>T (p.Lys542Met)
c.689A>T (p.Lys230Met)
n.2020A>T
c.1820A>T (p.Lys607Met)
n.1549A>T
n.1546A>T
n.2083A>T
2g.238397491G>ACA432228084TRAF3IP1c.1722G>A (p.Lys574=)
c.1524G>A (p.Lys508=)
n.733G>A
n.70G>A
c.1521G>A (p.Lys507=)
c.1824G>A (p.Lys608=)
c.1785G>A (p.Lys595=)
c.1752G>A (p.Lys584=)
c.1692G>A (p.Lys564=)
c.1626G>A (p.Lys542=)
c.690G>A (p.Lys230=)
n.2021G>A
c.1821G>A (p.Lys607=)
n.1550G>A
n.1547G>A
n.2084G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.238397491G>CCA351245834TRAF3IP1c.1722G>C (p.Lys574Asn)
c.1524G>C (p.Lys508Asn)
n.733G>C
n.70G>C
c.1521G>C (p.Lys507Asn)
c.1824G>C (p.Lys608Asn)
c.1785G>C (p.Lys595Asn)
c.1752G>C (p.Lys584Asn)
c.1692G>C (p.Lys564Asn)
c.1626G>C (p.Lys542Asn)
c.690G>C (p.Lys230Asn)
n.2021G>C
c.1821G>C (p.Lys607Asn)
n.1550G>C
n.1547G>C
n.2084G>C
2g.238397491G=CA1338105425TRAF3IP1c.1722G= (p.Lys574=)
c.1524G= (p.Lys508=)
n.733G=
n.70G=
c.1521G= (p.Lys507=)
c.1824G= (p.Lys608=)
c.1785G= (p.Lys595=)
c.1752G= (p.Lys584=)
c.1692G= (p.Lys564=)
c.1626G= (p.Lys542=)
c.690G= (p.Lys230=)
n.2021G=
c.1821G= (p.Lys607=)
n.1550G=
n.1547G=
n.2084G=
2g.238397491G>TCA351245835TRAF3IP1c.1722G>T (p.Lys574Asn)
c.1524G>T (p.Lys508Asn)
n.733G>T
n.70G>T
c.1521G>T (p.Lys507Asn)
c.1824G>T (p.Lys608Asn)
c.1785G>T (p.Lys595Asn)
c.1752G>T (p.Lys584Asn)
c.1692G>T (p.Lys564Asn)
c.1626G>T (p.Lys542Asn)
c.690G>T (p.Lys230Asn)
n.2021G>T
c.1821G>T (p.Lys607Asn)
n.1550G>T
n.1547G>T
n.2084G>T
2g.238397492G>ACA351245836TRAF3IP1c.1723G>A (p.Glu575Lys)
c.1525G>A (p.Glu509Lys)
n.734G>A
n.71G>A
c.1522G>A (p.Glu508Lys)
c.1825G>A (p.Glu609Lys)
c.1786G>A (p.Glu596Lys)
c.1753G>A (p.Glu585Lys)
c.1693G>A (p.Glu565Lys)
c.1627G>A (p.Glu543Lys)
c.691G>A (p.Glu231Lys)
n.2022G>A
c.1822G>A (p.Glu608Lys)
n.1551G>A
n.1548G>A
n.2085G>A
2g.238397492G>CCA351245837TRAF3IP1c.1723G>C (p.Glu575Gln)
c.1525G>C (p.Glu509Gln)
n.734G>C
n.71G>C
c.1522G>C (p.Glu508Gln)
c.1825G>C (p.Glu609Gln)
c.1786G>C (p.Glu596Gln)
c.1753G>C (p.Glu585Gln)
c.1693G>C (p.Glu565Gln)
c.1627G>C (p.Glu543Gln)
c.691G>C (p.Glu231Gln)
n.2022G>C
c.1822G>C (p.Glu608Gln)
n.1551G>C
n.1548G>C
n.2085G>C
dbSNP gnomAD v3 gnomAD v4
2g.238397492G>TCA351245838TRAF3IP1c.1723G>T (p.Glu575Ter)
c.1525G>T (p.Glu509Ter)
n.734G>T
n.71G>T
c.1522G>T (p.Glu508Ter)
c.1825G>T (p.Glu609Ter)
c.1786G>T (p.Glu596Ter)
c.1753G>T (p.Glu585Ter)
c.1693G>T (p.Glu565Ter)
c.1627G>T (p.Glu543Ter)
c.691G>T (p.Glu231Ter)
n.2022G>T
c.1822G>T (p.Glu608Ter)
n.1551G>T
n.1548G>T
n.2085G>T
2g.238397492_238397495delinsGAGACA1338105426TRAF3IP1c.1723_1726delinsGAGA (p.Glu575=)
c.1525_1528delinsGAGA (p.Glu509=)
n.734_737delinsGAGA
n.71_74delinsGAGA
c.1522_1525delinsGAGA (p.Glu508=)
c.1825_1828delinsGAGA (p.Glu609=)
c.1786_1789delinsGAGA (p.Glu596=)
c.1753_1756delinsGAGA (p.Glu585=)
c.1693_1696delinsGAGA (p.Glu565=)
c.1627_1630delinsGAGA (p.Glu543=)
c.691_694delinsGAGA (p.Glu231=)
n.2022_2025delinsGAGA
c.1822_1825delinsGAGA (p.Glu608=)
n.1551_1554delinsGAGA
n.1548_1551delinsGAGA
n.2085_2088delinsGAGA
2g.238397493A=CA1338105428TRAF3IP1c.1724A= (p.Glu575=)
c.1526A= (p.Glu509=)
n.735A=
n.72A=
c.1523A= (p.Glu508=)
c.1826A= (p.Glu609=)
c.1787A= (p.Glu596=)
c.1754A= (p.Glu585=)
c.1694A= (p.Glu565=)
c.1628A= (p.Glu543=)
c.692A= (p.Glu231=)
n.2023A=
c.1823A= (p.Glu608=)
n.1552A=
n.1549A=
n.2086A=
2g.238397493A>CCA351245841TRAF3IP1c.1724A>C (p.Glu575Ala)
c.1526A>C (p.Glu509Ala)
n.735A>C
n.72A>C
c.1523A>C (p.Glu508Ala)
c.1826A>C (p.Glu609Ala)
c.1787A>C (p.Glu596Ala)
c.1754A>C (p.Glu585Ala)
c.1694A>C (p.Glu565Ala)
c.1628A>C (p.Glu543Ala)
c.692A>C (p.Glu231Ala)
n.2023A>C
c.1823A>C (p.Glu608Ala)
n.1552A>C
n.1549A>C
n.2086A>C
2g.238397493A>GCA351245840TRAF3IP1c.1724A>G (p.Glu575Gly)
c.1526A>G (p.Glu509Gly)
n.735A>G
n.72A>G
c.1523A>G (p.Glu508Gly)
c.1826A>G (p.Glu609Gly)
c.1787A>G (p.Glu596Gly)
c.1754A>G (p.Glu585Gly)
c.1694A>G (p.Glu565Gly)
c.1628A>G (p.Glu543Gly)
c.692A>G (p.Glu231Gly)
n.2023A>G
c.1823A>G (p.Glu608Gly)
n.1552A>G
n.1549A>G
n.2086A>G
dbSNP gnomAD v2 gnomAD v4
2g.238397493A>TCA351245839TRAF3IP1c.1724A>T (p.Glu575Val)
c.1526A>T (p.Glu509Val)
n.735A>T
n.72A>T
c.1523A>T (p.Glu508Val)
c.1826A>T (p.Glu609Val)
c.1787A>T (p.Glu596Val)
c.1754A>T (p.Glu585Val)
c.1694A>T (p.Glu565Val)
c.1628A>T (p.Glu543Val)
c.692A>T (p.Glu231Val)
n.2023A>T
c.1823A>T (p.Glu608Val)
n.1552A>T
n.1549A>T
n.2086A>T
2g.238397495_238397497delCA1338105427TRAF3IP1c.1726_1728del (p.Lys576del)
c.1528_1530del (p.Lys510del)
n.737_739del
n.74_76del
c.1525_1527del (p.Lys509del)
c.1828_1830del (p.Lys610del)
c.1789_1791del (p.Lys597del)
c.1756_1758del (p.Lys586del)
c.1696_1698del (p.Lys566del)
c.1630_1632del (p.Lys544del)
c.694_696del (p.Lys232del)
n.2025_2027del
c.1825_1827del (p.Lys609del)
n.1554_1556del
n.1551_1553del
n.2088_2090del
dbSNP
2g.238397494G>ACA432228085TRAF3IP1c.1725G>A (p.Glu575=)
c.1527G>A (p.Glu509=)
n.736G>A
n.73G>A
c.1524G>A (p.Glu508=)
c.1827G>A (p.Glu609=)
c.1788G>A (p.Glu596=)
c.1755G>A (p.Glu585=)
c.1695G>A (p.Glu565=)
c.1629G>A (p.Glu543=)
c.693G>A (p.Glu231=)
n.2024G>A
c.1824G>A (p.Glu608=)
n.1553G>A
n.1550G>A
n.2087G>A
dbSNP gnomAD v2
2g.238397494G>CCA351245842TRAF3IP1c.1725G>C (p.Glu575Asp)
c.1527G>C (p.Glu509Asp)
n.736G>C
n.73G>C
c.1524G>C (p.Glu508Asp)
c.1827G>C (p.Glu609Asp)
c.1788G>C (p.Glu596Asp)
c.1755G>C (p.Glu585Asp)
c.1695G>C (p.Glu565Asp)
c.1629G>C (p.Glu543Asp)
c.693G>C (p.Glu231Asp)
n.2024G>C
c.1824G>C (p.Glu608Asp)
n.1553G>C
n.1550G>C
n.2087G>C
2g.238397494G=CA1338105429TRAF3IP1c.1725G= (p.Glu575=)
c.1527G= (p.Glu509=)
n.736G=
n.73G=
c.1524G= (p.Glu508=)
c.1827G= (p.Glu609=)
c.1788G= (p.Glu596=)
c.1755G= (p.Glu585=)
c.1695G= (p.Glu565=)
c.1629G= (p.Glu543=)
c.693G= (p.Glu231=)
n.2024G=
c.1824G= (p.Glu608=)
n.1553G=
n.1550G=
n.2087G=
2g.238397494G>TCA351245843TRAF3IP1c.1725G>T (p.Glu575Asp)
c.1527G>T (p.Glu509Asp)
n.736G>T
n.73G>T
c.1524G>T (p.Glu508Asp)
c.1827G>T (p.Glu609Asp)
c.1788G>T (p.Glu596Asp)
c.1755G>T (p.Glu585Asp)
c.1695G>T (p.Glu565Asp)
c.1629G>T (p.Glu543Asp)
c.693G>T (p.Glu231Asp)
n.2024G>T
c.1824G>T (p.Glu608Asp)
n.1553G>T
n.1550G>T
n.2087G>T
2g.238397495A>CCA351245844TRAF3IP1c.1726A>C (p.Lys576Gln)
c.1528A>C (p.Lys510Gln)
n.737A>C
n.74A>C
c.1525A>C (p.Lys509Gln)
c.1828A>C (p.Lys610Gln)
c.1789A>C (p.Lys597Gln)
c.1756A>C (p.Lys586Gln)
c.1696A>C (p.Lys566Gln)
c.1630A>C (p.Lys544Gln)
c.694A>C (p.Lys232Gln)
n.2025A>C
c.1825A>C (p.Lys609Gln)
n.1554A>C
n.1551A>C
n.2088A>C
2g.238397495A>GCA351245845TRAF3IP1c.1726A>G (p.Lys576Glu)
c.1528A>G (p.Lys510Glu)
n.737A>G
n.74A>G
c.1525A>G (p.Lys509Glu)
c.1828A>G (p.Lys610Glu)
c.1789A>G (p.Lys597Glu)
c.1756A>G (p.Lys586Glu)
c.1696A>G (p.Lys566Glu)
c.1630A>G (p.Lys544Glu)
c.694A>G (p.Lys232Glu)
n.2025A>G
c.1825A>G (p.Lys609Glu)
n.1554A>G
n.1551A>G
n.2088A>G
2g.238397495A>TCA351245846TRAF3IP1c.1726A>T (p.Lys576Ter)
c.1528A>T (p.Lys510Ter)
n.737A>T
n.74A>T
c.1525A>T (p.Lys509Ter)
c.1828A>T (p.Lys610Ter)
c.1789A>T (p.Lys597Ter)
c.1756A>T (p.Lys586Ter)
c.1696A>T (p.Lys566Ter)
c.1630A>T (p.Lys544Ter)
c.694A>T (p.Lys232Ter)
n.2025A>T
c.1825A>T (p.Lys609Ter)
n.1554A>T
n.1551A>T
n.2088A>T
2g.238397496A>CCA351245847TRAF3IP1c.1727A>C (p.Lys576Thr)
c.1529A>C (p.Lys510Thr)
n.738A>C
n.75A>C
c.1526A>C (p.Lys509Thr)
c.1829A>C (p.Lys610Thr)
c.1790A>C (p.Lys597Thr)
c.1757A>C (p.Lys586Thr)
c.1697A>C (p.Lys566Thr)
c.1631A>C (p.Lys544Thr)
c.695A>C (p.Lys232Thr)
n.2026A>C
c.1826A>C (p.Lys609Thr)
n.1555A>C
n.1552A>C
n.2089A>C
2g.238397496A>GCA351245848TRAF3IP1c.1727A>G (p.Lys576Arg)
c.1529A>G (p.Lys510Arg)
n.738A>G
n.75A>G
c.1526A>G (p.Lys509Arg)
c.1829A>G (p.Lys610Arg)
c.1790A>G (p.Lys597Arg)
c.1757A>G (p.Lys586Arg)
c.1697A>G (p.Lys566Arg)
c.1631A>G (p.Lys544Arg)
c.695A>G (p.Lys232Arg)
n.2026A>G
c.1826A>G (p.Lys609Arg)
n.1555A>G
n.1552A>G
n.2089A>G
2g.238397496A>TCA351245849TRAF3IP1c.1727A>T (p.Lys576Met)
c.1529A>T (p.Lys510Met)
n.738A>T
n.75A>T
c.1526A>T (p.Lys509Met)
c.1829A>T (p.Lys610Met)
c.1790A>T (p.Lys597Met)
c.1757A>T (p.Lys586Met)
c.1697A>T (p.Lys566Met)
c.1631A>T (p.Lys544Met)
c.695A>T (p.Lys232Met)
n.2026A>T
c.1826A>T (p.Lys609Met)
n.1555A>T
n.1552A>T
n.2089A>T
2g.238397497G>ACA432228086TRAF3IP1c.1728G>A (p.Lys576=)
c.1530G>A (p.Lys510=)
n.739G>A
n.76G>A
c.1527G>A (p.Lys509=)
c.1830G>A (p.Lys610=)
c.1791G>A (p.Lys597=)
c.1758G>A (p.Lys586=)
c.1698G>A (p.Lys566=)
c.1632G>A (p.Lys544=)
c.696G>A (p.Lys232=)
n.2027G>A
c.1827G>A (p.Lys609=)
n.1556G>A
n.1553G>A
n.2090G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238397497G>CCA351245850TRAF3IP1c.1728G>C (p.Lys576Asn)
c.1530G>C (p.Lys510Asn)
n.739G>C
n.76G>C
c.1527G>C (p.Lys509Asn)
c.1830G>C (p.Lys610Asn)
c.1791G>C (p.Lys597Asn)
c.1758G>C (p.Lys586Asn)
c.1698G>C (p.Lys566Asn)
c.1632G>C (p.Lys544Asn)
c.696G>C (p.Lys232Asn)
n.2027G>C
c.1827G>C (p.Lys609Asn)
n.1556G>C
n.1553G>C
n.2090G>C
2g.238397497G=CA1338105430TRAF3IP1c.1728G= (p.Lys576=)
c.1530G= (p.Lys510=)
n.739G=
n.76G=
c.1527G= (p.Lys509=)
c.1830G= (p.Lys610=)
c.1791G= (p.Lys597=)
c.1758G= (p.Lys586=)
c.1698G= (p.Lys566=)
c.1632G= (p.Lys544=)
c.696G= (p.Lys232=)
n.2027G=
c.1827G= (p.Lys609=)
n.1556G=
n.1553G=
n.2090G=
2g.238397497G>TCA351245851TRAF3IP1c.1728G>T (p.Lys576Asn)
c.1530G>T (p.Lys510Asn)
n.739G>T
n.76G>T
c.1527G>T (p.Lys509Asn)
c.1830G>T (p.Lys610Asn)
c.1791G>T (p.Lys597Asn)
c.1758G>T (p.Lys586Asn)
c.1698G>T (p.Lys566Asn)
c.1632G>T (p.Lys544Asn)
c.696G>T (p.Lys232Asn)
n.2027G>T
c.1827G>T (p.Lys609Asn)
n.1556G>T
n.1553G>T
n.2090G>T
2g.238397498G>ACA351245852TRAF3IP1c.1729G>A (p.Asp577Asn)
c.1531G>A (p.Asp511Asn)
n.740G>A
n.77G>A
c.1528G>A (p.Asp510Asn)
c.1831G>A (p.Asp611Asn)
c.1792G>A (p.Asp598Asn)
c.1759G>A (p.Asp587Asn)
c.1699G>A (p.Asp567Asn)
c.1633G>A (p.Asp545Asn)
c.697G>A (p.Asp233Asn)
n.2028G>A
c.1828G>A (p.Asp610Asn)
n.1557G>A
n.1554G>A
n.2091G>A
2g.238397498G>CCA351245853TRAF3IP1c.1729G>C (p.Asp577His)
c.1531G>C (p.Asp511His)
n.740G>C
n.77G>C
c.1528G>C (p.Asp510His)
c.1831G>C (p.Asp611His)
c.1792G>C (p.Asp598His)
c.1759G>C (p.Asp587His)
c.1699G>C (p.Asp567His)
c.1633G>C (p.Asp545His)
c.697G>C (p.Asp233His)
n.2028G>C
c.1828G>C (p.Asp610His)
n.1557G>C
n.1554G>C
n.2091G>C
2g.238397498G>TCA351245854TRAF3IP1c.1729G>T (p.Asp577Tyr)
c.1531G>T (p.Asp511Tyr)
n.740G>T
n.77G>T
c.1528G>T (p.Asp510Tyr)
c.1831G>T (p.Asp611Tyr)
c.1792G>T (p.Asp598Tyr)
c.1759G>T (p.Asp587Tyr)
c.1699G>T (p.Asp567Tyr)
c.1633G>T (p.Asp545Tyr)
c.697G>T (p.Asp233Tyr)
n.2028G>T
c.1828G>T (p.Asp610Tyr)
n.1557G>T
n.1554G>T
n.2091G>T
2g.238397499A=CA1338105431TRAF3IP1c.1730A= (p.Asp577=)
c.1532A= (p.Asp511=)
n.741A=
n.78A=
c.1529A= (p.Asp510=)
c.1832A= (p.Asp611=)
c.1793A= (p.Asp598=)
c.1760A= (p.Asp587=)
c.1700A= (p.Asp567=)
c.1634A= (p.Asp545=)
c.698A= (p.Asp233=)
n.2029A=
c.1829A= (p.Asp610=)
n.1558A=
n.1555A=
n.2092A=
2g.238397499A>CCA351245856TRAF3IP1c.1730A>C (p.Asp577Ala)
c.1532A>C (p.Asp511Ala)
n.741A>C
n.78A>C
c.1529A>C (p.Asp510Ala)
c.1832A>C (p.Asp611Ala)
c.1793A>C (p.Asp598Ala)
c.1760A>C (p.Asp587Ala)
c.1700A>C (p.Asp567Ala)
c.1634A>C (p.Asp545Ala)
c.698A>C (p.Asp233Ala)
n.2029A>C
c.1829A>C (p.Asp610Ala)
n.1558A>C
n.1555A>C
n.2092A>C
2g.238397499A>GCA2198559TRAF3IP1c.1730A>G (p.Asp577Gly)
c.1532A>G (p.Asp511Gly)
n.741A>G
n.78A>G
c.1529A>G (p.Asp510Gly)
c.1832A>G (p.Asp611Gly)
c.1793A>G (p.Asp598Gly)
c.1760A>G (p.Asp587Gly)
c.1700A>G (p.Asp567Gly)
c.1634A>G (p.Asp545Gly)
c.698A>G (p.Asp233Gly)
n.2029A>G
c.1829A>G (p.Asp610Gly)
n.1558A>G
n.1555A>G
n.2092A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397499A>TCA351245855TRAF3IP1c.1730A>T (p.Asp577Val)
c.1532A>T (p.Asp511Val)
n.741A>T
n.78A>T
c.1529A>T (p.Asp510Val)
c.1832A>T (p.Asp611Val)
c.1793A>T (p.Asp598Val)
c.1760A>T (p.Asp587Val)
c.1700A>T (p.Asp567Val)
c.1634A>T (p.Asp545Val)
c.698A>T (p.Asp233Val)
n.2029A>T
c.1829A>T (p.Asp610Val)
n.1558A>T
n.1555A>T
n.2092A>T
2g.238397500C>ACA351245858TRAF3IP1c.1731C>A (p.Asp577Glu)
c.1533C>A (p.Asp511Glu)
n.742C>A
n.79C>A
c.1530C>A (p.Asp510Glu)
c.1833C>A (p.Asp611Glu)
c.1794C>A (p.Asp598Glu)
c.1761C>A (p.Asp587Glu)
c.1701C>A (p.Asp567Glu)
c.1635C>A (p.Asp545Glu)
c.699C>A (p.Asp233Glu)
n.2030C>A
c.1830C>A (p.Asp610Glu)
n.1559C>A
n.1556C>A
n.2093C>A
2g.238397500C>GCA351245857TRAF3IP1c.1731C>G (p.Asp577Glu)
c.1533C>G (p.Asp511Glu)
n.742C>G
n.79C>G
c.1530C>G (p.Asp510Glu)
c.1833C>G (p.Asp611Glu)
c.1794C>G (p.Asp598Glu)
c.1761C>G (p.Asp587Glu)
c.1701C>G (p.Asp567Glu)
c.1635C>G (p.Asp545Glu)
c.699C>G (p.Asp233Glu)
n.2030C>G
c.1830C>G (p.Asp610Glu)
n.1559C>G
n.1556C>G
n.2093C>G
2g.238397500C>TCA432228087TRAF3IP1c.1731C>T (p.Asp577=)
c.1533C>T (p.Asp511=)
n.742C>T
n.79C>T
c.1530C>T (p.Asp510=)
c.1833C>T (p.Asp611=)
c.1794C>T (p.Asp598=)
c.1761C>T (p.Asp587=)
c.1701C>T (p.Asp567=)
c.1635C>T (p.Asp545=)
c.699C>T (p.Asp233=)
n.2030C>T
c.1830C>T (p.Asp610=)
n.1559C>T
n.1556C>T
n.2093C>T
2g.238397501A=CA1338105432TRAF3IP1c.1732A= (p.Ile578=)
c.1534A= (p.Ile512=)
n.743A=
n.80A=
c.1531A= (p.Ile511=)
c.1834A= (p.Ile612=)
c.1795A= (p.Ile599=)
c.1762A= (p.Ile588=)
c.1702A= (p.Ile568=)
c.1636A= (p.Ile546=)
c.700A= (p.Ile234=)
n.2031A=
c.1831A= (p.Ile611=)
n.1560A=
n.1557A=
n.2094A=
2g.238397501A>CCA351245859TRAF3IP1c.1732A>C (p.Ile578Leu)
c.1534A>C (p.Ile512Leu)
n.743A>C
n.80A>C
c.1531A>C (p.Ile511Leu)
c.1834A>C (p.Ile612Leu)
c.1795A>C (p.Ile599Leu)
c.1762A>C (p.Ile588Leu)
c.1702A>C (p.Ile568Leu)
c.1636A>C (p.Ile546Leu)
c.700A>C (p.Ile234Leu)
n.2031A>C
c.1831A>C (p.Ile611Leu)
n.1560A>C
n.1557A>C
n.2094A>C
gnomAD v4
2g.238397501A>GCA351245860TRAF3IP1c.1732A>G (p.Ile578Val)
c.1534A>G (p.Ile512Val)
n.743A>G
n.80A>G
c.1531A>G (p.Ile511Val)
c.1834A>G (p.Ile612Val)
c.1795A>G (p.Ile599Val)
c.1762A>G (p.Ile588Val)
c.1702A>G (p.Ile568Val)
c.1636A>G (p.Ile546Val)
c.700A>G (p.Ile234Val)
n.2031A>G
c.1831A>G (p.Ile611Val)
n.1560A>G
n.1557A>G
n.2094A>G
gnomAD v4
2g.238397501A>TCA351245861TRAF3IP1c.1732A>T (p.Ile578Phe)
c.1534A>T (p.Ile512Phe)
n.743A>T
n.80A>T
c.1531A>T (p.Ile511Phe)
c.1834A>T (p.Ile612Phe)
c.1795A>T (p.Ile599Phe)
c.1762A>T (p.Ile588Phe)
c.1702A>T (p.Ile568Phe)
c.1636A>T (p.Ile546Phe)
c.700A>T (p.Ile234Phe)
n.2031A>T
c.1831A>T (p.Ile611Phe)
n.1560A>T
n.1557A>T
n.2094A>T
dbSNP gnomAD v2 gnomAD v4
2g.238397502T>ACA351245862TRAF3IP1c.1733T>A (p.Ile578Asn)
c.1535T>A (p.Ile512Asn)
n.744T>A
n.81T>A
c.1532T>A (p.Ile511Asn)
c.1835T>A (p.Ile612Asn)
c.1796T>A (p.Ile599Asn)
c.1763T>A (p.Ile588Asn)
c.1703T>A (p.Ile568Asn)
c.1637T>A (p.Ile546Asn)
c.701T>A (p.Ile234Asn)
n.2032T>A
c.1832T>A (p.Ile611Asn)
n.1561T>A
n.1558T>A
n.2095T>A
2g.238397502T>CCA351245863TRAF3IP1c.1733T>C (p.Ile578Thr)
c.1535T>C (p.Ile512Thr)
n.744T>C
n.81T>C
c.1532T>C (p.Ile511Thr)
c.1835T>C (p.Ile612Thr)
c.1796T>C (p.Ile599Thr)
c.1763T>C (p.Ile588Thr)
c.1703T>C (p.Ile568Thr)
c.1637T>C (p.Ile546Thr)
c.701T>C (p.Ile234Thr)
n.2032T>C
c.1832T>C (p.Ile611Thr)
n.1561T>C
n.1558T>C
n.2095T>C
2g.238397502T>GCA351245864TRAF3IP1c.1733T>G (p.Ile578Ser)
c.1535T>G (p.Ile512Ser)
n.744T>G
n.81T>G
c.1532T>G (p.Ile511Ser)
c.1835T>G (p.Ile612Ser)
c.1796T>G (p.Ile599Ser)
c.1763T>G (p.Ile588Ser)
c.1703T>G (p.Ile568Ser)
c.1637T>G (p.Ile546Ser)
c.701T>G (p.Ile234Ser)
n.2032T>G
c.1832T>G (p.Ile611Ser)
n.1561T>G
n.1558T>G
n.2095T>G
2g.238397503C>ACA432228088TRAF3IP1c.1734C>A (p.Ile578=)
c.1536C>A (p.Ile512=)
n.745C>A
n.82C>A
c.1533C>A (p.Ile511=)
c.1836C>A (p.Ile612=)
c.1797C>A (p.Ile599=)
c.1764C>A (p.Ile588=)
c.1704C>A (p.Ile568=)
c.1638C>A (p.Ile546=)
c.702C>A (p.Ile234=)
n.2033C>A
c.1833C>A (p.Ile611=)
n.1562C>A
n.1559C>A
n.2096C>A
COSMIC COSMIC
2g.238397503C=CA1338105433TRAF3IP1c.1734C= (p.Ile578=)
c.1536C= (p.Ile512=)
n.745C=
n.82C=
c.1533C= (p.Ile511=)
c.1836C= (p.Ile612=)
c.1797C= (p.Ile599=)
c.1764C= (p.Ile588=)
c.1704C= (p.Ile568=)
c.1638C= (p.Ile546=)
c.702C= (p.Ile234=)
n.2033C=
c.1833C= (p.Ile611=)
n.1562C=
n.1559C=
n.2096C=
2g.238397503C>GCA351245865TRAF3IP1c.1734C>G (p.Ile578Met)
c.1536C>G (p.Ile512Met)
n.745C>G
n.82C>G
c.1533C>G (p.Ile511Met)
c.1836C>G (p.Ile612Met)
c.1797C>G (p.Ile599Met)
c.1764C>G (p.Ile588Met)
c.1704C>G (p.Ile568Met)
c.1638C>G (p.Ile546Met)
c.702C>G (p.Ile234Met)
n.2033C>G
c.1833C>G (p.Ile611Met)
n.1562C>G
n.1559C>G
n.2096C>G
2g.238397503C>TCA2198560TRAF3IP1c.1734C>T (p.Ile578=)
c.1536C>T (p.Ile512=)
n.745C>T
n.82C>T
c.1533C>T (p.Ile511=)
c.1836C>T (p.Ile612=)
c.1797C>T (p.Ile599=)
c.1764C>T (p.Ile588=)
c.1704C>T (p.Ile568=)
c.1638C>T (p.Ile546=)
c.702C>T (p.Ile234=)
n.2033C>T
c.1833C>T (p.Ile611=)
n.1562C>T
n.1559C>T
n.2096C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.238397504G>ACA2198561TRAF3IP1c.1735G>A (p.Val579Ile)
c.1537G>A (p.Val513Ile)
n.746G>A
n.83G>A
c.1534G>A (p.Val512Ile)
c.1837G>A (p.Val613Ile)
c.1798G>A (p.Val600Ile)
c.1765G>A (p.Val589Ile)
c.1705G>A (p.Val569Ile)
c.1639G>A (p.Val547Ile)
c.703G>A (p.Val235Ile)
n.2034G>A
c.1834G>A (p.Val612Ile)
n.1563G>A
n.1560G>A
n.2097G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397504G>CCA351245866TRAF3IP1c.1735G>C (p.Val579Leu)
c.1537G>C (p.Val513Leu)
n.746G>C
n.83G>C
c.1534G>C (p.Val512Leu)
c.1837G>C (p.Val613Leu)
c.1798G>C (p.Val600Leu)
c.1765G>C (p.Val589Leu)
c.1705G>C (p.Val569Leu)
c.1639G>C (p.Val547Leu)
c.703G>C (p.Val235Leu)
n.2034G>C
c.1834G>C (p.Val612Leu)
n.1563G>C
n.1560G>C
n.2097G>C
2g.238397504G=CA1338105434TRAF3IP1c.1735G= (p.Val579=)
c.1537G= (p.Val513=)
n.746G=
n.83G=
c.1534G= (p.Val512=)
c.1837G= (p.Val613=)
c.1798G= (p.Val600=)
c.1765G= (p.Val589=)
c.1705G= (p.Val569=)
c.1639G= (p.Val547=)
c.703G= (p.Val235=)
n.2034G=
c.1834G= (p.Val612=)
n.1563G=
n.1560G=
n.2097G=
2g.238397504G>TCA351245867TRAF3IP1c.1735G>T (p.Val579Phe)
c.1537G>T (p.Val513Phe)
n.746G>T
n.83G>T
c.1534G>T (p.Val512Phe)
c.1837G>T (p.Val613Phe)
c.1798G>T (p.Val600Phe)
c.1765G>T (p.Val589Phe)
c.1705G>T (p.Val569Phe)
c.1639G>T (p.Val547Phe)
c.703G>T (p.Val235Phe)
n.2034G>T
c.1834G>T (p.Val612Phe)
n.1563G>T
n.1560G>T
n.2097G>T
2g.238397505T>ACA351245870TRAF3IP1c.1736T>A (p.Val579Asp)
c.1538T>A (p.Val513Asp)
n.747T>A
n.84T>A
c.1535T>A (p.Val512Asp)
c.1838T>A (p.Val613Asp)
c.1799T>A (p.Val600Asp)
c.1766T>A (p.Val589Asp)
c.1706T>A (p.Val569Asp)
c.1640T>A (p.Val547Asp)
c.704T>A (p.Val235Asp)
n.2035T>A
c.1835T>A (p.Val612Asp)
n.1564T>A
n.1561T>A
n.2098T>A
2g.238397505T>CCA351245869TRAF3IP1c.1736T>C (p.Val579Ala)
c.1538T>C (p.Val513Ala)
n.747T>C
n.84T>C
c.1535T>C (p.Val512Ala)
c.1838T>C (p.Val613Ala)
c.1799T>C (p.Val600Ala)
c.1766T>C (p.Val589Ala)
c.1706T>C (p.Val569Ala)
c.1640T>C (p.Val547Ala)
c.704T>C (p.Val235Ala)
n.2035T>C
c.1835T>C (p.Val612Ala)
n.1564T>C
n.1561T>C
n.2098T>C
gnomAD v4
2g.238397505T>GCA351245868TRAF3IP1c.1736T>G (p.Val579Gly)
c.1538T>G (p.Val513Gly)
n.747T>G
n.84T>G
c.1535T>G (p.Val512Gly)
c.1838T>G (p.Val613Gly)
c.1799T>G (p.Val600Gly)
c.1766T>G (p.Val589Gly)
c.1706T>G (p.Val569Gly)
c.1640T>G (p.Val547Gly)
c.704T>G (p.Val235Gly)
n.2035T>G
c.1835T>G (p.Val612Gly)
n.1564T>G
n.1561T>G
n.2098T>G
2g.238397506T>ACA432228091TRAF3IP1c.1737T>A (p.Val579=)
c.1539T>A (p.Val513=)
n.748T>A
n.85T>A
c.1536T>A (p.Val512=)
c.1839T>A (p.Val613=)
c.1800T>A (p.Val600=)
c.1767T>A (p.Val589=)
c.1707T>A (p.Val569=)
c.1641T>A (p.Val547=)
c.705T>A (p.Val235=)
n.2036T>A
c.1836T>A (p.Val612=)
n.1565T>A
n.1562T>A
n.2099T>A
2g.238397506T>CCA432228090TRAF3IP1c.1737T>C (p.Val579=)
c.1539T>C (p.Val513=)
n.748T>C
n.85T>C
c.1536T>C (p.Val512=)
c.1839T>C (p.Val613=)
c.1800T>C (p.Val600=)
c.1767T>C (p.Val589=)
c.1707T>C (p.Val569=)
c.1641T>C (p.Val547=)
c.705T>C (p.Val235=)
n.2036T>C
c.1836T>C (p.Val612=)
n.1565T>C
n.1562T>C
n.2099T>C
2g.238397506T>GCA432228089TRAF3IP1c.1737T>G (p.Val579=)
c.1539T>G (p.Val513=)
n.748T>G
n.85T>G
c.1536T>G (p.Val512=)
c.1839T>G (p.Val613=)
c.1800T>G (p.Val600=)
c.1767T>G (p.Val589=)
c.1707T>G (p.Val569=)
c.1641T>G (p.Val547=)
c.705T>G (p.Val235=)
n.2036T>G
c.1836T>G (p.Val612=)
n.1565T>G
n.1562T>G
n.2099T>G
2g.238397507T>ACA351245871TRAF3IP1c.1738T>A (p.Ser580Thr)
c.1540T>A (p.Ser514Thr)
n.749T>A
n.86T>A
c.1537T>A (p.Ser513Thr)
c.1840T>A (p.Ser614Thr)
c.1801T>A (p.Ser601Thr)
c.1768T>A (p.Ser590Thr)
c.1708T>A (p.Ser570Thr)
c.1642T>A (p.Ser548Thr)
c.706T>A (p.Ser236Thr)
n.2037T>A
c.1837T>A (p.Ser613Thr)
n.1566T>A
n.1563T>A
n.2100T>A
2g.238397507T>CCA351245872TRAF3IP1c.1738T>C (p.Ser580Pro)
c.1540T>C (p.Ser514Pro)
n.749T>C
n.86T>C
c.1537T>C (p.Ser513Pro)
c.1840T>C (p.Ser614Pro)
c.1801T>C (p.Ser601Pro)
c.1768T>C (p.Ser590Pro)
c.1708T>C (p.Ser570Pro)
c.1642T>C (p.Ser548Pro)
c.706T>C (p.Ser236Pro)
n.2037T>C
c.1837T>C (p.Ser613Pro)
n.1566T>C
n.1563T>C
n.2100T>C
2g.238397507T>GCA351245873TRAF3IP1c.1738T>G (p.Ser580Ala)
c.1540T>G (p.Ser514Ala)
n.749T>G
n.86T>G
c.1537T>G (p.Ser513Ala)
c.1840T>G (p.Ser614Ala)
c.1801T>G (p.Ser601Ala)
c.1768T>G (p.Ser590Ala)
c.1708T>G (p.Ser570Ala)
c.1642T>G (p.Ser548Ala)
c.706T>G (p.Ser236Ala)
n.2037T>G
c.1837T>G (p.Ser613Ala)
n.1566T>G
n.1563T>G
n.2100T>G
2g.238397508C>ACA351245874TRAF3IP1c.1739C>A (p.Ser580Tyr)
c.1541C>A (p.Ser514Tyr)
n.750C>A
n.87C>A
c.1538C>A (p.Ser513Tyr)
c.1841C>A (p.Ser614Tyr)
c.1802C>A (p.Ser601Tyr)
c.1769C>A (p.Ser590Tyr)
c.1709C>A (p.Ser570Tyr)
c.1643C>A (p.Ser548Tyr)
c.707C>A (p.Ser236Tyr)
n.2038C>A
c.1838C>A (p.Ser613Tyr)
n.1567C>A
n.1564C>A
n.2101C>A
2g.238397508C>GCA351245875TRAF3IP1c.1739C>G (p.Ser580Cys)
c.1541C>G (p.Ser514Cys)
n.750C>G
n.87C>G
c.1538C>G (p.Ser513Cys)
c.1841C>G (p.Ser614Cys)
c.1802C>G (p.Ser601Cys)
c.1769C>G (p.Ser590Cys)
c.1709C>G (p.Ser570Cys)
c.1643C>G (p.Ser548Cys)
c.707C>G (p.Ser236Cys)
n.2038C>G
c.1838C>G (p.Ser613Cys)
n.1567C>G
n.1564C>G
n.2101C>G
2g.238397508C>TCA351245876TRAF3IP1c.1739C>T (p.Ser580Phe)
c.1541C>T (p.Ser514Phe)
n.750C>T
n.87C>T
c.1538C>T (p.Ser513Phe)
c.1841C>T (p.Ser614Phe)
c.1802C>T (p.Ser601Phe)
c.1769C>T (p.Ser590Phe)
c.1709C>T (p.Ser570Phe)
c.1643C>T (p.Ser548Phe)
c.707C>T (p.Ser236Phe)
n.2038C>T
c.1838C>T (p.Ser613Phe)
n.1567C>T
n.1564C>T
n.2101C>T
gnomAD v4
2g.238397509C>ACA432228092TRAF3IP1c.1740C>A (p.Ser580=)
c.1542C>A (p.Ser514=)
n.751C>A
n.88C>A
c.1539C>A (p.Ser513=)
c.1842C>A (p.Ser614=)
c.1803C>A (p.Ser601=)
c.1770C>A (p.Ser590=)
c.1710C>A (p.Ser570=)
c.1644C>A (p.Ser548=)
c.708C>A (p.Ser236=)
n.2039C>A
c.1839C>A (p.Ser613=)
n.1568C>A
n.1565C>A
n.2102C>A
2g.238397509C=CA1338105435TRAF3IP1c.1740C= (p.Ser580=)
c.1542C= (p.Ser514=)
n.751C=
n.88C=
c.1539C= (p.Ser513=)
c.1842C= (p.Ser614=)
c.1803C= (p.Ser601=)
c.1770C= (p.Ser590=)
c.1710C= (p.Ser570=)
c.1644C= (p.Ser548=)
c.708C= (p.Ser236=)
n.2039C=
c.1839C= (p.Ser613=)
n.1568C=
n.1565C=
n.2102C=
2g.238397509C>GCA432228093TRAF3IP1c.1740C>G (p.Ser580=)
c.1542C>G (p.Ser514=)
n.751C>G
n.88C>G
c.1539C>G (p.Ser513=)
c.1842C>G (p.Ser614=)
c.1803C>G (p.Ser601=)
c.1770C>G (p.Ser590=)
c.1710C>G (p.Ser570=)
c.1644C>G (p.Ser548=)
c.708C>G (p.Ser236=)
n.2039C>G
c.1839C>G (p.Ser613=)
n.1568C>G
n.1565C>G
n.2102C>G
dbSNP
2g.238397509C>TCA2198562TRAF3IP1c.1740C>T (p.Ser580=)
c.1542C>T (p.Ser514=)
n.751C>T
n.88C>T
c.1539C>T (p.Ser513=)
c.1842C>T (p.Ser614=)
c.1803C>T (p.Ser601=)
c.1770C>T (p.Ser590=)
c.1710C>T (p.Ser570=)
c.1644C>T (p.Ser548=)
c.708C>T (p.Ser236=)
n.2039C>T
c.1839C>T (p.Ser613=)
n.1568C>T
n.1565C>T
n.2102C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397510A>CCA351245877TRAF3IP1c.1741A>C (p.Lys581Gln)
c.1543A>C (p.Lys515Gln)
n.752A>C
n.89A>C
c.1540A>C (p.Lys514Gln)
c.1843A>C (p.Lys615Gln)
c.1804A>C (p.Lys602Gln)
c.1771A>C (p.Lys591Gln)
c.1711A>C (p.Lys571Gln)
c.1645A>C (p.Lys549Gln)
c.709A>C (p.Lys237Gln)
n.2040A>C
c.1840A>C (p.Lys614Gln)
n.1569A>C
n.1566A>C
n.2103A>C
2g.238397510A>GCA351245879TRAF3IP1c.1741A>G (p.Lys581Glu)
c.1543A>G (p.Lys515Glu)
n.752A>G
n.89A>G
c.1540A>G (p.Lys514Glu)
c.1843A>G (p.Lys615Glu)
c.1804A>G (p.Lys602Glu)
c.1771A>G (p.Lys591Glu)
c.1711A>G (p.Lys571Glu)
c.1645A>G (p.Lys549Glu)
c.709A>G (p.Lys237Glu)
n.2040A>G
c.1840A>G (p.Lys614Glu)
n.1569A>G
n.1566A>G
n.2103A>G
2g.238397510A>TCA351245881TRAF3IP1c.1741A>T (p.Lys581Ter)
c.1543A>T (p.Lys515Ter)
n.752A>T
n.89A>T
c.1540A>T (p.Lys514Ter)
c.1843A>T (p.Lys615Ter)
c.1804A>T (p.Lys602Ter)
c.1771A>T (p.Lys591Ter)
c.1711A>T (p.Lys571Ter)
c.1645A>T (p.Lys549Ter)
c.709A>T (p.Lys237Ter)
n.2040A>T
c.1840A>T (p.Lys614Ter)
n.1569A>T
n.1566A>T
n.2103A>T
2g.238397511A>CCA351245883TRAF3IP1c.1742A>C (p.Lys581Thr)
c.1544A>C (p.Lys515Thr)
n.753A>C
n.90A>C
c.1541A>C (p.Lys514Thr)
c.1844A>C (p.Lys615Thr)
c.1805A>C (p.Lys602Thr)
c.1772A>C (p.Lys591Thr)
c.1712A>C (p.Lys571Thr)
c.1646A>C (p.Lys549Thr)
c.710A>C (p.Lys237Thr)
n.2041A>C
c.1841A>C (p.Lys614Thr)
n.1570A>C
n.1567A>C
n.2104A>C
2g.238397511A>GCA351245884TRAF3IP1c.1742A>G (p.Lys581Arg)
c.1544A>G (p.Lys515Arg)
n.753A>G
n.90A>G
c.1541A>G (p.Lys514Arg)
c.1844A>G (p.Lys615Arg)
c.1805A>G (p.Lys602Arg)
c.1772A>G (p.Lys591Arg)
c.1712A>G (p.Lys571Arg)
c.1646A>G (p.Lys549Arg)
c.710A>G (p.Lys237Arg)
n.2041A>G
c.1841A>G (p.Lys614Arg)
n.1570A>G
n.1567A>G
n.2104A>G
gnomAD v4
2g.238397511A>TCA351245886TRAF3IP1c.1742A>T (p.Lys581Met)
c.1544A>T (p.Lys515Met)
n.753A>T
n.90A>T
c.1541A>T (p.Lys514Met)
c.1844A>T (p.Lys615Met)
c.1805A>T (p.Lys602Met)
c.1772A>T (p.Lys591Met)
c.1712A>T (p.Lys571Met)
c.1646A>T (p.Lys549Met)
c.710A>T (p.Lys237Met)
n.2041A>T
c.1841A>T (p.Lys614Met)
n.1570A>T
n.1567A>T
n.2104A>T
2g.238397512G>ACA2198563TRAF3IP1c.1743G>A (p.Lys581=)
c.1545G>A (p.Lys515=)
n.754G>A
n.91G>A
c.1542G>A (p.Lys514=)
c.1845G>A (p.Lys615=)
c.1806G>A (p.Lys602=)
c.1773G>A (p.Lys591=)
c.1713G>A (p.Lys571=)
c.1647G>A (p.Lys549=)
c.711G>A (p.Lys237=)
n.2042G>A
c.1842G>A (p.Lys614=)
n.1571G>A
n.1568G>A
n.2105G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397512G>CCA351245890TRAF3IP1c.1743G>C (p.Lys581Asn)
c.1545G>C (p.Lys515Asn)
n.754G>C
n.91G>C
c.1542G>C (p.Lys514Asn)
c.1845G>C (p.Lys615Asn)
c.1806G>C (p.Lys602Asn)
c.1773G>C (p.Lys591Asn)
c.1713G>C (p.Lys571Asn)
c.1647G>C (p.Lys549Asn)
c.711G>C (p.Lys237Asn)
n.2042G>C
c.1842G>C (p.Lys614Asn)
n.1571G>C
n.1568G>C
n.2105G>C
dbSNP gnomAD v3 gnomAD v4
2g.238397512G=CA1338105436TRAF3IP1c.1743G= (p.Lys581=)
c.1545G= (p.Lys515=)
n.754G=
n.91G=
c.1542G= (p.Lys514=)
c.1845G= (p.Lys615=)
c.1806G= (p.Lys602=)
c.1773G= (p.Lys591=)
c.1713G= (p.Lys571=)
c.1647G= (p.Lys549=)
c.711G= (p.Lys237=)
n.2042G=
c.1842G= (p.Lys614=)
n.1571G=
n.1568G=
n.2105G=
2g.238397512G>TCA351245889TRAF3IP1c.1743G>T (p.Lys581Asn)
c.1545G>T (p.Lys515Asn)
n.754G>T
n.91G>T
c.1542G>T (p.Lys514Asn)
c.1845G>T (p.Lys615Asn)
c.1806G>T (p.Lys602Asn)
c.1773G>T (p.Lys591Asn)
c.1713G>T (p.Lys571Asn)
c.1647G>T (p.Lys549Asn)
c.711G>T (p.Lys237Asn)
n.2042G>T
c.1842G>T (p.Lys614Asn)
n.1571G>T
n.1568G>T
n.2105G>T
2g.238397513G>ACA351245894TRAF3IP1c.1744G>A (p.Glu582Lys)
c.1546G>A (p.Glu516Lys)
n.755G>A
n.92G>A
c.1543G>A (p.Glu515Lys)
c.1846G>A (p.Glu616Lys)
c.1807G>A (p.Glu603Lys)
c.1774G>A (p.Glu592Lys)
c.1714G>A (p.Glu572Lys)
c.1648G>A (p.Glu550Lys)
c.712G>A (p.Glu238Lys)
n.2043G>A
c.1843G>A (p.Glu615Lys)
n.1572G>A
n.1569G>A
n.2106G>A
gnomAD v4
2g.238397513G>CCA351245897TRAF3IP1c.1744G>C (p.Glu582Gln)
c.1546G>C (p.Glu516Gln)
n.755G>C
n.92G>C
c.1543G>C (p.Glu515Gln)
c.1846G>C (p.Glu616Gln)
c.1807G>C (p.Glu603Gln)
c.1774G>C (p.Glu592Gln)
c.1714G>C (p.Glu572Gln)
c.1648G>C (p.Glu550Gln)
c.712G>C (p.Glu238Gln)
n.2043G>C
c.1843G>C (p.Glu615Gln)
n.1572G>C
n.1569G>C
n.2106G>C
2g.238397513G>TCA351245896TRAF3IP1c.1744G>T (p.Glu582Ter)
c.1546G>T (p.Glu516Ter)
n.755G>T
n.92G>T
c.1543G>T (p.Glu515Ter)
c.1846G>T (p.Glu616Ter)
c.1807G>T (p.Glu603Ter)
c.1774G>T (p.Glu592Ter)
c.1714G>T (p.Glu572Ter)
c.1648G>T (p.Glu550Ter)
c.712G>T (p.Glu238Ter)
n.2043G>T
c.1843G>T (p.Glu615Ter)
n.1572G>T
n.1569G>T
n.2106G>T
2g.238397514A>CCA351245899TRAF3IP1c.1745A>C (p.Glu582Ala)
c.1547A>C (p.Glu516Ala)
n.756A>C
n.93A>C
c.1544A>C (p.Glu515Ala)
c.1847A>C (p.Glu616Ala)
c.1808A>C (p.Glu603Ala)
c.1775A>C (p.Glu592Ala)
c.1715A>C (p.Glu572Ala)
c.1649A>C (p.Glu550Ala)
c.713A>C (p.Glu238Ala)
n.2044A>C
c.1844A>C (p.Glu615Ala)
n.1573A>C
n.1570A>C
n.2107A>C
2g.238397514A>GCA351245901TRAF3IP1c.1745A>G (p.Glu582Gly)
c.1547A>G (p.Glu516Gly)
n.756A>G
n.93A>G
c.1544A>G (p.Glu515Gly)
c.1847A>G (p.Glu616Gly)
c.1808A>G (p.Glu603Gly)
c.1775A>G (p.Glu592Gly)
c.1715A>G (p.Glu572Gly)
c.1649A>G (p.Glu550Gly)
c.713A>G (p.Glu238Gly)
n.2044A>G
c.1844A>G (p.Glu615Gly)
n.1573A>G
n.1570A>G
n.2107A>G
2g.238397514A>TCA351245903TRAF3IP1c.1745A>T (p.Glu582Val)
c.1547A>T (p.Glu516Val)
n.756A>T
n.93A>T
c.1544A>T (p.Glu515Val)
c.1847A>T (p.Glu616Val)
c.1808A>T (p.Glu603Val)
c.1775A>T (p.Glu592Val)
c.1715A>T (p.Glu572Val)
c.1649A>T (p.Glu550Val)
c.713A>T (p.Glu238Val)
n.2044A>T
c.1844A>T (p.Glu615Val)
n.1573A>T
n.1570A>T
n.2107A>T
2g.238397515G>ACA432228094TRAF3IP1c.1746G>A (p.Glu582=)
c.1548G>A (p.Glu516=)
n.757G>A
n.94G>A
c.1545G>A (p.Glu515=)
c.1848G>A (p.Glu616=)
c.1809G>A (p.Glu603=)
c.1776G>A (p.Glu592=)
c.1716G>A (p.Glu572=)
c.1650G>A (p.Glu550=)
c.714G>A (p.Glu238=)
n.2045G>A
c.1845G>A (p.Glu615=)
n.1574G>A
n.1571G>A
n.2108G>A
2g.238397515G>CCA351245905TRAF3IP1c.1746G>C (p.Glu582Asp)
c.1548G>C (p.Glu516Asp)
n.757G>C
n.94G>C
c.1545G>C (p.Glu515Asp)
c.1848G>C (p.Glu616Asp)
c.1809G>C (p.Glu603Asp)
c.1776G>C (p.Glu592Asp)
c.1716G>C (p.Glu572Asp)
c.1650G>C (p.Glu550Asp)
c.714G>C (p.Glu238Asp)
n.2045G>C
c.1845G>C (p.Glu615Asp)
n.1574G>C
n.1571G>C
n.2108G>C
2g.238397515G>TCA351245906TRAF3IP1c.1746G>T (p.Glu582Asp)
c.1548G>T (p.Glu516Asp)
n.757G>T
n.94G>T
c.1545G>T (p.Glu515Asp)
c.1848G>T (p.Glu616Asp)
c.1809G>T (p.Glu603Asp)
c.1776G>T (p.Glu592Asp)
c.1716G>T (p.Glu572Asp)
c.1650G>T (p.Glu550Asp)
c.714G>T (p.Glu238Asp)
n.2045G>T
c.1845G>T (p.Glu615Asp)
n.1574G>T
n.1571G>T
n.2108G>T
2g.238397516A=CA1338105437TRAF3IP1c.1747A= (p.Ile583=)
c.1549A= (p.Ile517=)
n.758A=
n.95A=
c.1546A= (p.Ile516=)
c.1849A= (p.Ile617=)
c.1810A= (p.Ile604=)
c.1777A= (p.Ile593=)
c.1717A= (p.Ile573=)
c.1651A= (p.Ile551=)
c.715A= (p.Ile239=)
n.2046A=
c.1846A= (p.Ile616=)
n.1575A=
n.1572A=
n.2109A=
2g.238397516A>CCA2198564TRAF3IP1c.1747A>C (p.Ile583Leu)
c.1549A>C (p.Ile517Leu)
n.758A>C
n.95A>C
c.1546A>C (p.Ile516Leu)
c.1849A>C (p.Ile617Leu)
c.1810A>C (p.Ile604Leu)
c.1777A>C (p.Ile593Leu)
c.1717A>C (p.Ile573Leu)
c.1651A>C (p.Ile551Leu)
c.715A>C (p.Ile239Leu)
n.2046A>C
c.1846A>C (p.Ile616Leu)
n.1575A>C
n.1572A>C
n.2109A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397516A>GCA2198565TRAF3IP1c.1747A>G (p.Ile583Val)
c.1549A>G (p.Ile517Val)
n.758A>G
n.95A>G
c.1546A>G (p.Ile516Val)
c.1849A>G (p.Ile617Val)
c.1810A>G (p.Ile604Val)
c.1777A>G (p.Ile593Val)
c.1717A>G (p.Ile573Val)
c.1651A>G (p.Ile551Val)
c.715A>G (p.Ile239Val)
n.2046A>G
c.1846A>G (p.Ile616Val)
n.1575A>G
n.1572A>G
n.2109A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397516A>TCA351245910TRAF3IP1c.1747A>T (p.Ile583Leu)
c.1549A>T (p.Ile517Leu)
n.758A>T
n.95A>T
c.1546A>T (p.Ile516Leu)
c.1849A>T (p.Ile617Leu)
c.1810A>T (p.Ile604Leu)
c.1777A>T (p.Ile593Leu)
c.1717A>T (p.Ile573Leu)
c.1651A>T (p.Ile551Leu)
c.715A>T (p.Ile239Leu)
n.2046A>T
c.1846A>T (p.Ile616Leu)
n.1575A>T
n.1572A>T
n.2109A>T
gnomAD v4
2g.238397517T>ACA351245913TRAF3IP1c.1748T>A (p.Ile583Lys)
c.1550T>A (p.Ile517Lys)
n.759T>A
n.96T>A
c.1547T>A (p.Ile516Lys)
c.1850T>A (p.Ile617Lys)
c.1811T>A (p.Ile604Lys)
c.1778T>A (p.Ile593Lys)
c.1718T>A (p.Ile573Lys)
c.1652T>A (p.Ile551Lys)
c.716T>A (p.Ile239Lys)
n.2047T>A
c.1847T>A (p.Ile616Lys)
n.1576T>A
n.1573T>A
n.2110T>A
2g.238397517T>CCA351245916TRAF3IP1c.1748T>C (p.Ile583Thr)
c.1550T>C (p.Ile517Thr)
n.759T>C
n.96T>C
c.1547T>C (p.Ile516Thr)
c.1850T>C (p.Ile617Thr)
c.1811T>C (p.Ile604Thr)
c.1778T>C (p.Ile593Thr)
c.1718T>C (p.Ile573Thr)
c.1652T>C (p.Ile551Thr)
c.716T>C (p.Ile239Thr)
n.2047T>C
c.1847T>C (p.Ile616Thr)
n.1576T>C
n.1573T>C
n.2110T>C
dbSNP gnomAD v2 gnomAD v4
2g.238397517T>GCA351245917TRAF3IP1c.1748T>G (p.Ile583Arg)
c.1550T>G (p.Ile517Arg)
n.759T>G
n.96T>G
c.1547T>G (p.Ile516Arg)
c.1850T>G (p.Ile617Arg)
c.1811T>G (p.Ile604Arg)
c.1778T>G (p.Ile593Arg)
c.1718T>G (p.Ile573Arg)
c.1652T>G (p.Ile551Arg)
c.716T>G (p.Ile239Arg)
n.2047T>G
c.1847T>G (p.Ile616Arg)
n.1576T>G
n.1573T>G
n.2110T>G
2g.238397517T=CA1338105438TRAF3IP1c.1748T= (p.Ile583=)
c.1550T= (p.Ile517=)
n.759T=
n.96T=
c.1547T= (p.Ile516=)
c.1850T= (p.Ile617=)
c.1811T= (p.Ile604=)
c.1778T= (p.Ile593=)
c.1718T= (p.Ile573=)
c.1652T= (p.Ile551=)
c.716T= (p.Ile239=)
n.2047T=
c.1847T= (p.Ile616=)
n.1576T=
n.1573T=
n.2110T=
2g.238397518A=CA1338105439TRAF3IP1c.1749A= (p.Ile583=)
c.1551A= (p.Ile517=)
n.760A=
n.97A=
c.1548A= (p.Ile516=)
c.1851A= (p.Ile617=)
c.1812A= (p.Ile604=)
c.1779A= (p.Ile593=)
c.1719A= (p.Ile573=)
c.1653A= (p.Ile551=)
c.717A= (p.Ile239=)
n.2048A=
c.1848A= (p.Ile616=)
n.1577A=
n.1574A=
n.2111A=
2g.238397518A>CCA432228095TRAF3IP1c.1749A>C (p.Ile583=)
c.1551A>C (p.Ile517=)
n.760A>C
n.97A>C
c.1548A>C (p.Ile516=)
c.1851A>C (p.Ile617=)
c.1812A>C (p.Ile604=)
c.1779A>C (p.Ile593=)
c.1719A>C (p.Ile573=)
c.1653A>C (p.Ile551=)
c.717A>C (p.Ile239=)
n.2048A>C
c.1848A>C (p.Ile616=)
n.1577A>C
n.1574A>C
n.2111A>C
2g.238397518A>GCA2198566TRAF3IP1c.1749A>G (p.Ile583Met)
c.1551A>G (p.Ile517Met)
n.760A>G
n.97A>G
c.1548A>G (p.Ile516Met)
c.1851A>G (p.Ile617Met)
c.1812A>G (p.Ile604Met)
c.1779A>G (p.Ile593Met)
c.1719A>G (p.Ile573Met)
c.1653A>G (p.Ile551Met)
c.717A>G (p.Ile239Met)
n.2048A>G
c.1848A>G (p.Ile616Met)
n.1577A>G
n.1574A>G
n.2111A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397518A>TCA432228096TRAF3IP1c.1749A>T (p.Ile583=)
c.1551A>T (p.Ile517=)
n.760A>T
n.97A>T
c.1548A>T (p.Ile516=)
c.1851A>T (p.Ile617=)
c.1812A>T (p.Ile604=)
c.1779A>T (p.Ile593=)
c.1719A>T (p.Ile573=)
c.1653A>T (p.Ile551=)
c.717A>T (p.Ile239=)
n.2048A>T
c.1848A>T (p.Ile616=)
n.1577A>T
n.1574A>T
n.2111A>T
dbSNP
2g.238397519G>ACA351245926TRAF3IP1c.1750G>A (p.Glu584Lys)
c.1552G>A (p.Glu518Lys)
n.761G>A
n.98G>A
c.1549G>A (p.Glu517Lys)
c.1852G>A (p.Glu618Lys)
c.1813G>A (p.Glu605Lys)
c.1780G>A (p.Glu594Lys)
c.1720G>A (p.Glu574Lys)
c.1654G>A (p.Glu552Lys)
c.718G>A (p.Glu240Lys)
n.2049G>A
c.1849G>A (p.Glu617Lys)
n.1578G>A
n.1575G>A
n.2112G>A
dbSNP
2g.238397519G>CCA351245924TRAF3IP1c.1750G>C (p.Glu584Gln)
c.1552G>C (p.Glu518Gln)
n.761G>C
n.98G>C
c.1549G>C (p.Glu517Gln)
c.1852G>C (p.Glu618Gln)
c.1813G>C (p.Glu605Gln)
c.1780G>C (p.Glu594Gln)
c.1720G>C (p.Glu574Gln)
c.1654G>C (p.Glu552Gln)
c.718G>C (p.Glu240Gln)
n.2049G>C
c.1849G>C (p.Glu617Gln)
n.1578G>C
n.1575G>C
n.2112G>C
2g.238397519G>TCA351245923TRAF3IP1c.1750G>T (p.Glu584Ter)
c.1552G>T (p.Glu518Ter)
n.761G>T
n.98G>T
c.1549G>T (p.Glu517Ter)
c.1852G>T (p.Glu618Ter)
c.1813G>T (p.Glu605Ter)
c.1780G>T (p.Glu594Ter)
c.1720G>T (p.Glu574Ter)
c.1654G>T (p.Glu552Ter)
c.718G>T (p.Glu240Ter)
n.2049G>T
c.1849G>T (p.Glu617Ter)
n.1578G>T
n.1575G>T
n.2112G>T
2g.238397520A>CCA351245933TRAF3IP1c.1751A>C (p.Glu584Ala)
c.1553A>C (p.Glu518Ala)
n.762A>C
n.99A>C
c.1550A>C (p.Glu517Ala)
c.1853A>C (p.Glu618Ala)
c.1814A>C (p.Glu605Ala)
c.1781A>C (p.Glu594Ala)
c.1721A>C (p.Glu574Ala)
c.1655A>C (p.Glu552Ala)
c.719A>C (p.Glu240Ala)
n.2050A>C
c.1850A>C (p.Glu617Ala)
n.1579A>C
n.1576A>C
n.2113A>C
2g.238397520A>GCA351245935TRAF3IP1c.1751A>G (p.Glu584Gly)
c.1553A>G (p.Glu518Gly)
n.762A>G
n.99A>G
c.1550A>G (p.Glu517Gly)
c.1853A>G (p.Glu618Gly)
c.1814A>G (p.Glu605Gly)
c.1781A>G (p.Glu594Gly)
c.1721A>G (p.Glu574Gly)
c.1655A>G (p.Glu552Gly)
c.719A>G (p.Glu240Gly)
n.2050A>G
c.1850A>G (p.Glu617Gly)
n.1579A>G
n.1576A>G
n.2113A>G
2g.238397520A>TCA351245938TRAF3IP1c.1751A>T (p.Glu584Val)
c.1553A>T (p.Glu518Val)
n.762A>T
n.99A>T
c.1550A>T (p.Glu517Val)
c.1853A>T (p.Glu618Val)
c.1814A>T (p.Glu605Val)
c.1781A>T (p.Glu594Val)
c.1721A>T (p.Glu574Val)
c.1655A>T (p.Glu552Val)
c.719A>T (p.Glu240Val)
n.2050A>T
c.1850A>T (p.Glu617Val)
n.1579A>T
n.1576A>T
n.2113A>T
2g.238397521G>ACA432228097TRAF3IP1c.1752G>A (p.Glu584=)
c.1554G>A (p.Glu518=)
n.763G>A
n.100G>A
c.1551G>A (p.Glu517=)
c.1854G>A (p.Glu618=)
c.1815G>A (p.Glu605=)
c.1782G>A (p.Glu594=)
c.1722G>A (p.Glu574=)
c.1656G>A (p.Glu552=)
c.720G>A (p.Glu240=)
n.2051G>A
c.1851G>A (p.Glu617=)
n.1580G>A
n.1577G>A
2g.238397521G>CCA351245941TRAF3IP1c.1752G>C (p.Glu584Asp)
c.1554G>C (p.Glu518Asp)
n.763G>C
n.100G>C
c.1551G>C (p.Glu517Asp)
c.1854G>C (p.Glu618Asp)
c.1815G>C (p.Glu605Asp)
c.1782G>C (p.Glu594Asp)
c.1722G>C (p.Glu574Asp)
c.1656G>C (p.Glu552Asp)
c.720G>C (p.Glu240Asp)
n.2051G>C
c.1851G>C (p.Glu617Asp)
n.1580G>C
n.1577G>C
2g.238397521G>TCA351245949TRAF3IP1c.1752G>T (p.Glu584Asp)
c.1554G>T (p.Glu518Asp)
n.763G>T
n.100G>T
c.1551G>T (p.Glu517Asp)
c.1854G>T (p.Glu618Asp)
c.1815G>T (p.Glu605Asp)
c.1782G>T (p.Glu594Asp)
c.1722G>T (p.Glu574Asp)
c.1656G>T (p.Glu552Asp)
c.720G>T (p.Glu240Asp)
n.2051G>T
c.1851G>T (p.Glu617Asp)
n.1580G>T
n.1577G>T
2g.238397522A=CA1338105440TRAF3IP1c.1753A= (p.Lys585=)
c.1555A= (p.Lys519=)
n.764A=
n.101A=
c.1552A= (p.Lys518=)
c.1855A= (p.Lys619=)
c.1816A= (p.Lys606=)
c.1783A= (p.Lys595=)
c.1723A= (p.Lys575=)
c.1657A= (p.Lys553=)
c.721A= (p.Lys241=)
n.2052A=
c.1852A= (p.Lys618=)
n.1581A=
n.1578A=
2g.238397522A>CCA351245950TRAF3IP1c.1753A>C (p.Lys585Gln)
c.1555A>C (p.Lys519Gln)
n.764A>C
n.101A>C
c.1552A>C (p.Lys518Gln)
c.1855A>C (p.Lys619Gln)
c.1816A>C (p.Lys606Gln)
c.1783A>C (p.Lys595Gln)
c.1723A>C (p.Lys575Gln)
c.1657A>C (p.Lys553Gln)
c.721A>C (p.Lys241Gln)
n.2052A>C
c.1852A>C (p.Lys618Gln)
n.1581A>C
n.1578A>C
2g.238397522A>GCA2198567TRAF3IP1c.1753A>G (p.Lys585Glu)
c.1555A>G (p.Lys519Glu)
n.764A>G
n.101A>G
c.1552A>G (p.Lys518Glu)
c.1855A>G (p.Lys619Glu)
c.1816A>G (p.Lys606Glu)
c.1783A>G (p.Lys595Glu)
c.1723A>G (p.Lys575Glu)
c.1657A>G (p.Lys553Glu)
c.721A>G (p.Lys241Glu)
n.2052A>G
c.1852A>G (p.Lys618Glu)
n.1581A>G
n.1578A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397522A>TCA351245951TRAF3IP1c.1753A>T (p.Lys585Ter)
c.1555A>T (p.Lys519Ter)
n.764A>T
n.101A>T
c.1552A>T (p.Lys518Ter)
c.1855A>T (p.Lys619Ter)
c.1816A>T (p.Lys606Ter)
c.1783A>T (p.Lys595Ter)
c.1723A>T (p.Lys575Ter)
c.1657A>T (p.Lys553Ter)
c.721A>T (p.Lys241Ter)
n.2052A>T
c.1852A>T (p.Lys618Ter)
n.1581A>T
n.1578A>T
2g.238397523A>CCA351245952TRAF3IP1c.1754A>C (p.Lys585Thr)
c.1556A>C (p.Lys519Thr)
n.765A>C
n.102A>C
c.1553A>C (p.Lys518Thr)
c.1856A>C (p.Lys619Thr)
c.1817A>C (p.Lys606Thr)
c.1784A>C (p.Lys595Thr)
c.1724A>C (p.Lys575Thr)
c.1658A>C (p.Lys553Thr)
c.722A>C (p.Lys241Thr)
n.2053A>C
c.1853A>C (p.Lys618Thr)
n.1582A>C
n.1579A>C
2g.238397523A>GCA351245953TRAF3IP1c.1754A>G (p.Lys585Arg)
c.1556A>G (p.Lys519Arg)
n.765A>G
n.102A>G
c.1553A>G (p.Lys518Arg)
c.1856A>G (p.Lys619Arg)
c.1817A>G (p.Lys606Arg)
c.1784A>G (p.Lys595Arg)
c.1724A>G (p.Lys575Arg)
c.1658A>G (p.Lys553Arg)
c.722A>G (p.Lys241Arg)
n.2053A>G
c.1853A>G (p.Lys618Arg)
n.1582A>G
n.1579A>G
2g.238397523A>TCA351245954TRAF3IP1c.1754A>T (p.Lys585Met)
c.1556A>T (p.Lys519Met)
n.765A>T
n.102A>T
c.1553A>T (p.Lys518Met)
c.1856A>T (p.Lys619Met)
c.1817A>T (p.Lys606Met)
c.1784A>T (p.Lys595Met)
c.1724A>T (p.Lys575Met)
c.1658A>T (p.Lys553Met)
c.722A>T (p.Lys241Met)
n.2053A>T
c.1853A>T (p.Lys618Met)
n.1582A>T
n.1579A>T
2g.238397524G>ACA432228098TRAF3IP1c.1755G>A (p.Lys585=)
c.1557G>A (p.Lys519=)
n.766G>A
n.103G>A
c.1554G>A (p.Lys518=)
c.1857G>A (p.Lys619=)
c.1818G>A (p.Lys606=)
c.1785G>A (p.Lys595=)
c.1725G>A (p.Lys575=)
c.1659G>A (p.Lys553=)
c.723G>A (p.Lys241=)
n.2054G>A
c.1854G>A (p.Lys618=)
n.1583G>A
n.1580G>A
dbSNP gnomAD v2 gnomAD v4
2g.238397524G>CCA351245956TRAF3IP1c.1755G>C (p.Lys585Asn)
c.1557G>C (p.Lys519Asn)
n.766G>C
n.103G>C
c.1554G>C (p.Lys518Asn)
c.1857G>C (p.Lys619Asn)
c.1818G>C (p.Lys606Asn)
c.1785G>C (p.Lys595Asn)
c.1725G>C (p.Lys575Asn)
c.1659G>C (p.Lys553Asn)
c.723G>C (p.Lys241Asn)
n.2054G>C
c.1854G>C (p.Lys618Asn)
n.1583G>C
n.1580G>C
gnomAD v4
2g.238397524G=CA1338105441TRAF3IP1c.1755G= (p.Lys585=)
c.1557G= (p.Lys519=)
n.766G=
n.103G=
c.1554G= (p.Lys518=)
c.1857G= (p.Lys619=)
c.1818G= (p.Lys606=)
c.1785G= (p.Lys595=)
c.1725G= (p.Lys575=)
c.1659G= (p.Lys553=)
c.723G= (p.Lys241=)
n.2054G=
c.1854G= (p.Lys618=)
n.1583G=
n.1580G=
2g.238397524G>TCA351245957TRAF3IP1c.1755G>T (p.Lys585Asn)
c.1557G>T (p.Lys519Asn)
n.766G>T
n.103G>T
c.1554G>T (p.Lys518Asn)
c.1857G>T (p.Lys619Asn)
c.1818G>T (p.Lys606Asn)
c.1785G>T (p.Lys595Asn)
c.1725G>T (p.Lys575Asn)
c.1659G>T (p.Lys553Asn)
c.723G>T (p.Lys241Asn)
n.2054G>T
c.1854G>T (p.Lys618Asn)
n.1583G>T
n.1580G>T
2g.238397525C>ACA351245961TRAF3IP1c.1756C>A (p.Leu586Ile)
c.1558C>A (p.Leu520Ile)
n.767C>A
n.104C>A
c.1555C>A (p.Leu519Ile)
c.1858C>A (p.Leu620Ile)
c.1819C>A (p.Leu607Ile)
c.1786C>A (p.Leu596Ile)
c.1726C>A (p.Leu576Ile)
c.1660C>A (p.Leu554Ile)
c.724C>A (p.Leu242Ile)
n.2055C>A
c.1855C>A (p.Leu619Ile)
n.1584C>A
n.1581C>A
2g.238397525C>GCA351245963TRAF3IP1c.1756C>G (p.Leu586Val)
c.1558C>G (p.Leu520Val)
n.767C>G
n.104C>G
c.1555C>G (p.Leu519Val)
c.1858C>G (p.Leu620Val)
c.1819C>G (p.Leu607Val)
c.1786C>G (p.Leu596Val)
c.1726C>G (p.Leu576Val)
c.1660C>G (p.Leu554Val)
c.724C>G (p.Leu242Val)
n.2055C>G
c.1855C>G (p.Leu619Val)
n.1584C>G
n.1581C>G
2g.238397525C>TCA351245959TRAF3IP1c.1756C>T (p.Leu586Phe)
c.1558C>T (p.Leu520Phe)
n.767C>T
n.104C>T
c.1555C>T (p.Leu519Phe)
c.1858C>T (p.Leu620Phe)
c.1819C>T (p.Leu607Phe)
c.1786C>T (p.Leu596Phe)
c.1726C>T (p.Leu576Phe)
c.1660C>T (p.Leu554Phe)
c.724C>T (p.Leu242Phe)
n.2055C>T
c.1855C>T (p.Leu619Phe)
n.1584C>T
n.1581C>T
2g.238397526T>ACA351245966TRAF3IP1c.1757T>A (p.Leu586His)
c.1559T>A (p.Leu520His)
n.768T>A
n.105T>A
c.1556T>A (p.Leu519His)
c.1859T>A (p.Leu620His)
c.1820T>A (p.Leu607His)
c.1787T>A (p.Leu596His)
c.1727T>A (p.Leu576His)
c.1661T>A (p.Leu554His)
c.725T>A (p.Leu242His)
n.2056T>A
c.1856T>A (p.Leu619His)
n.1585T>A
n.1582T>A
2g.238397526T>CCA351245969TRAF3IP1c.1757T>C (p.Leu586Pro)
c.1559T>C (p.Leu520Pro)
n.768T>C
n.105T>C
c.1556T>C (p.Leu519Pro)
c.1859T>C (p.Leu620Pro)
c.1820T>C (p.Leu607Pro)
c.1787T>C (p.Leu596Pro)
c.1727T>C (p.Leu576Pro)
c.1661T>C (p.Leu554Pro)
c.725T>C (p.Leu242Pro)
n.2056T>C
c.1856T>C (p.Leu619Pro)
n.1585T>C
n.1582T>C
2g.238397526T>GCA351245971TRAF3IP1c.1757T>G (p.Leu586Arg)
c.1559T>G (p.Leu520Arg)
n.768T>G
n.105T>G
c.1556T>G (p.Leu519Arg)
c.1859T>G (p.Leu620Arg)
c.1820T>G (p.Leu607Arg)
c.1787T>G (p.Leu596Arg)
c.1727T>G (p.Leu576Arg)
c.1661T>G (p.Leu554Arg)
c.725T>G (p.Leu242Arg)
n.2056T>G
c.1856T>G (p.Leu619Arg)
n.1585T>G
n.1582T>G
gnomAD v4
2g.238397527C>ACA432228101TRAF3IP1c.1758C>A (p.Leu586=)
c.1560C>A (p.Leu520=)
n.769C>A
n.106C>A
c.1557C>A (p.Leu519=)
c.1860C>A (p.Leu620=)
c.1821C>A (p.Leu607=)
c.1788C>A (p.Leu596=)
c.1728C>A (p.Leu576=)
c.1662C>A (p.Leu554=)
c.726C>A (p.Leu242=)
n.2057C>A
c.1857C>A (p.Leu619=)
n.1586C>A
n.1583C>A
2g.238397527C>GCA432228099TRAF3IP1c.1758C>G (p.Leu586=)
c.1560C>G (p.Leu520=)
n.769C>G
n.106C>G
c.1557C>G (p.Leu519=)
c.1860C>G (p.Leu620=)
c.1821C>G (p.Leu607=)
c.1788C>G (p.Leu596=)
c.1728C>G (p.Leu576=)
c.1662C>G (p.Leu554=)
c.726C>G (p.Leu242=)
n.2057C>G
c.1857C>G (p.Leu619=)
n.1586C>G
n.1583C>G
2g.238397527C>TCA432228100TRAF3IP1c.1758C>T (p.Leu586=)
c.1560C>T (p.Leu520=)
n.769C>T
n.106C>T
c.1557C>T (p.Leu519=)
c.1860C>T (p.Leu620=)
c.1821C>T (p.Leu607=)
c.1788C>T (p.Leu596=)
c.1728C>T (p.Leu576=)
c.1662C>T (p.Leu554=)
c.726C>T (p.Leu242=)
n.2057C>T
c.1857C>T (p.Leu619=)
n.1586C>T
n.1583C>T
2g.238397528C>ACA351245974TRAF3IP1c.1759C>A (p.Arg587Ser)
c.1561C>A (p.Arg521Ser)
n.770C>A
n.107C>A
c.1558C>A (p.Arg520Ser)
c.1861C>A (p.Arg621Ser)
c.1822C>A (p.Arg608Ser)
c.1789C>A (p.Arg597Ser)
c.1729C>A (p.Arg577Ser)
c.1663C>A (p.Arg555Ser)
c.727C>A (p.Arg243Ser)
n.2058C>A
c.1858C>A (p.Arg620Ser)
n.1587C>A
n.1584C>A
2g.238397528C=CA1338105442TRAF3IP1c.1759C= (p.Arg587=)
c.1561C= (p.Arg521=)
n.770C=
n.107C=
c.1558C= (p.Arg520=)
c.1861C= (p.Arg621=)
c.1822C= (p.Arg608=)
c.1789C= (p.Arg597=)
c.1729C= (p.Arg577=)
c.1663C= (p.Arg555=)
c.727C= (p.Arg243=)
n.2058C=
c.1858C= (p.Arg620=)
n.1587C=
n.1584C=
2g.238397528C>GCA351245975TRAF3IP1c.1759C>G (p.Arg587Gly)
c.1561C>G (p.Arg521Gly)
n.770C>G
n.107C>G
c.1558C>G (p.Arg520Gly)
c.1861C>G (p.Arg621Gly)
c.1822C>G (p.Arg608Gly)
c.1789C>G (p.Arg597Gly)
c.1729C>G (p.Arg577Gly)
c.1663C>G (p.Arg555Gly)
c.727C>G (p.Arg243Gly)
n.2058C>G
c.1858C>G (p.Arg620Gly)
n.1587C>G
n.1584C>G
2g.238397528C>TCA2198568TRAF3IP1c.1759C>T (p.Arg587Cys)
c.1561C>T (p.Arg521Cys)
n.770C>T
n.107C>T
c.1558C>T (p.Arg520Cys)
c.1861C>T (p.Arg621Cys)
c.1822C>T (p.Arg608Cys)
c.1789C>T (p.Arg597Cys)
c.1729C>T (p.Arg577Cys)
c.1663C>T (p.Arg555Cys)
c.727C>T (p.Arg243Cys)
n.2058C>T
c.1858C>T (p.Arg620Cys)
n.1587C>T
n.1584C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397529G>ACA2198569TRAF3IP1c.1760G>A (p.Arg587His)
c.1562G>A (p.Arg521His)
n.771G>A
n.108G>A
c.1559G>A (p.Arg520His)
c.1862G>A (p.Arg621His)
c.1823G>A (p.Arg608His)
c.1790G>A (p.Arg597His)
c.1730G>A (p.Arg577His)
c.1664G>A (p.Arg555His)
c.728G>A (p.Arg243His)
n.2059G>A
c.1859G>A (p.Arg620His)
n.1588G>A
n.1585G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397529G>CCA351245977TRAF3IP1c.1760G>C (p.Arg587Pro)
c.1562G>C (p.Arg521Pro)
n.771G>C
n.108G>C
c.1559G>C (p.Arg520Pro)
c.1862G>C (p.Arg621Pro)
c.1823G>C (p.Arg608Pro)
c.1790G>C (p.Arg597Pro)
c.1730G>C (p.Arg577Pro)
c.1664G>C (p.Arg555Pro)
c.728G>C (p.Arg243Pro)
n.2059G>C
c.1859G>C (p.Arg620Pro)
n.1588G>C
n.1585G>C
2g.238397529G=CA1338105443TRAF3IP1c.1760G= (p.Arg587=)
c.1562G= (p.Arg521=)
n.771G=
n.108G=
c.1559G= (p.Arg520=)
c.1862G= (p.Arg621=)
c.1823G= (p.Arg608=)
c.1790G= (p.Arg597=)
c.1730G= (p.Arg577=)
c.1664G= (p.Arg555=)
c.728G= (p.Arg243=)
n.2059G=
c.1859G= (p.Arg620=)
n.1588G=
n.1585G=
2g.238397529G>TCA351245979TRAF3IP1c.1760G>T (p.Arg587Leu)
c.1562G>T (p.Arg521Leu)
n.771G>T
n.108G>T
c.1559G>T (p.Arg520Leu)
c.1862G>T (p.Arg621Leu)
c.1823G>T (p.Arg608Leu)
c.1790G>T (p.Arg597Leu)
c.1730G>T (p.Arg577Leu)
c.1664G>T (p.Arg555Leu)
c.728G>T (p.Arg243Leu)
n.2059G>T
c.1859G>T (p.Arg620Leu)
n.1588G>T
n.1585G>T
2g.238397530C>ACA432228104TRAF3IP1c.1761C>A (p.Arg587=)
c.1563C>A (p.Arg521=)
n.772C>A
n.109C>A
c.1560C>A (p.Arg520=)
c.1863C>A (p.Arg621=)
c.1824C>A (p.Arg608=)
c.1791C>A (p.Arg597=)
c.1731C>A (p.Arg577=)
c.1665C>A (p.Arg555=)
c.729C>A (p.Arg243=)
n.2060C>A
c.1860C>A (p.Arg620=)
n.1589C>A
n.1586C>A
dbSNP
2g.238397530C=CA1338105444TRAF3IP1c.1761C= (p.Arg587=)
c.1563C= (p.Arg521=)
n.772C=
n.109C=
c.1560C= (p.Arg520=)
c.1863C= (p.Arg621=)
c.1824C= (p.Arg608=)
c.1791C= (p.Arg597=)
c.1731C= (p.Arg577=)
c.1665C= (p.Arg555=)
c.729C= (p.Arg243=)
n.2060C=
c.1860C= (p.Arg620=)
n.1589C=
n.1586C=
2g.238397530C>GCA432228102TRAF3IP1c.1761C>G (p.Arg587=)
c.1563C>G (p.Arg521=)
n.772C>G
n.109C>G
c.1560C>G (p.Arg520=)
c.1863C>G (p.Arg621=)
c.1824C>G (p.Arg608=)
c.1791C>G (p.Arg597=)
c.1731C>G (p.Arg577=)
c.1665C>G (p.Arg555=)
c.729C>G (p.Arg243=)
n.2060C>G
c.1860C>G (p.Arg620=)
n.1589C>G
n.1586C>G
2g.238397530C>TCA432228103TRAF3IP1c.1761C>T (p.Arg587=)
c.1563C>T (p.Arg521=)
n.772C>T
n.109C>T
c.1560C>T (p.Arg520=)
c.1863C>T (p.Arg621=)
c.1824C>T (p.Arg608=)
c.1791C>T (p.Arg597=)
c.1731C>T (p.Arg577=)
c.1665C>T (p.Arg555=)
c.729C>T (p.Arg243=)
n.2060C>T
c.1860C>T (p.Arg620=)
n.1589C>T
n.1586C>T
COSMIC
2g.238397531A>CCA351245985TRAF3IP1c.1762A>C (p.Thr588Pro)
c.1564A>C (p.Thr522Pro)
n.773A>C
n.110A>C
c.1561A>C (p.Thr521Pro)
c.1864A>C (p.Thr622Pro)
c.1825A>C (p.Thr609Pro)
c.1792A>C (p.Thr598Pro)
c.1732A>C (p.Thr578Pro)
c.1666A>C (p.Thr556Pro)
c.730A>C (p.Thr244Pro)
n.2061A>C
c.1861A>C (p.Thr621Pro)
n.1590A>C
n.1587A>C
2g.238397531A>GCA351245986TRAF3IP1c.1762A>G (p.Thr588Ala)
c.1564A>G (p.Thr522Ala)
n.773A>G
n.110A>G
c.1561A>G (p.Thr521Ala)
c.1864A>G (p.Thr622Ala)
c.1825A>G (p.Thr609Ala)
c.1792A>G (p.Thr598Ala)
c.1732A>G (p.Thr578Ala)
c.1666A>G (p.Thr556Ala)
c.730A>G (p.Thr244Ala)
n.2061A>G
c.1861A>G (p.Thr621Ala)
n.1590A>G
n.1587A>G
2g.238397531A>TCA351245987TRAF3IP1c.1762A>T (p.Thr588Ser)
c.1564A>T (p.Thr522Ser)
n.773A>T
n.110A>T
c.1561A>T (p.Thr521Ser)
c.1864A>T (p.Thr622Ser)
c.1825A>T (p.Thr609Ser)
c.1792A>T (p.Thr598Ser)
c.1732A>T (p.Thr578Ser)
c.1666A>T (p.Thr556Ser)
c.730A>T (p.Thr244Ser)
n.2061A>T
c.1861A>T (p.Thr621Ser)
n.1590A>T
n.1587A>T
2g.238397532C>ACA351245995TRAF3IP1c.1763C>A (p.Thr588Lys)
c.1565C>A (p.Thr522Lys)
n.774C>A
n.111C>A
c.1562C>A (p.Thr521Lys)
c.1865C>A (p.Thr622Lys)
c.1826C>A (p.Thr609Lys)
c.1793C>A (p.Thr598Lys)
c.1733C>A (p.Thr578Lys)
c.1667C>A (p.Thr556Lys)
c.731C>A (p.Thr244Lys)
n.2062C>A
c.1862C>A (p.Thr621Lys)
n.1591C>A
n.1588C>A
2g.238397532C=CA1338105445TRAF3IP1c.1763C= (p.Thr588=)
c.1565C= (p.Thr522=)
n.774C=
n.111C=
c.1562C= (p.Thr521=)
c.1865C= (p.Thr622=)
c.1826C= (p.Thr609=)
c.1793C= (p.Thr598=)
c.1733C= (p.Thr578=)
c.1667C= (p.Thr556=)
c.731C= (p.Thr244=)
n.2062C=
c.1862C= (p.Thr621=)
n.1591C=
n.1588C=
2g.238397532C>GCA351245988TRAF3IP1c.1763C>G (p.Thr588Arg)
c.1565C>G (p.Thr522Arg)
n.774C>G
n.111C>G
c.1562C>G (p.Thr521Arg)
c.1865C>G (p.Thr622Arg)
c.1826C>G (p.Thr609Arg)
c.1793C>G (p.Thr598Arg)
c.1733C>G (p.Thr578Arg)
c.1667C>G (p.Thr556Arg)
c.731C>G (p.Thr244Arg)
n.2062C>G
c.1862C>G (p.Thr621Arg)
n.1591C>G
n.1588C>G
2g.238397532C>TCA2198570TRAF3IP1c.1763C>T (p.Thr588Met)
c.1565C>T (p.Thr522Met)
n.774C>T
n.111C>T
c.1562C>T (p.Thr521Met)
c.1865C>T (p.Thr622Met)
c.1826C>T (p.Thr609Met)
c.1793C>T (p.Thr598Met)
c.1733C>T (p.Thr578Met)
c.1667C>T (p.Thr556Met)
c.731C>T (p.Thr244Met)
n.2062C>T
c.1862C>T (p.Thr621Met)
n.1591C>T
n.1588C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397533G>ACA2198571TRAF3IP1c.1764G>A (p.Thr588=)
c.1566G>A (p.Thr522=)
n.775G>A
n.112G>A
c.1563G>A (p.Thr521=)
c.1866G>A (p.Thr622=)
c.1827G>A (p.Thr609=)
c.1794G>A (p.Thr598=)
c.1734G>A (p.Thr578=)
c.1668G>A (p.Thr556=)
c.732G>A (p.Thr244=)
n.2063G>A
c.1863G>A (p.Thr621=)
n.1592G>A
n.1589G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.238397533G>CCA432228106TRAF3IP1c.1764G>C (p.Thr588=)
c.1566G>C (p.Thr522=)
n.775G>C
n.112G>C
c.1563G>C (p.Thr521=)
c.1866G>C (p.Thr622=)
c.1827G>C (p.Thr609=)
c.1794G>C (p.Thr598=)
c.1734G>C (p.Thr578=)
c.1668G>C (p.Thr556=)
c.732G>C (p.Thr244=)
n.2063G>C
c.1863G>C (p.Thr621=)
n.1592G>C
n.1589G>C
2g.238397533G=CA1338105446TRAF3IP1c.1764G= (p.Thr588=)
c.1566G= (p.Thr522=)
n.775G=
n.112G=
c.1563G= (p.Thr521=)
c.1866G= (p.Thr622=)
c.1827G= (p.Thr609=)
c.1794G= (p.Thr598=)
c.1734G= (p.Thr578=)
c.1668G= (p.Thr556=)
c.732G= (p.Thr244=)
n.2063G=
c.1863G= (p.Thr621=)
n.1592G=
n.1589G=
2g.238397533G>TCA432228105TRAF3IP1c.1764G>T (p.Thr588=)
c.1566G>T (p.Thr522=)
n.775G>T
n.112G>T
c.1563G>T (p.Thr521=)
c.1866G>T (p.Thr622=)
c.1827G>T (p.Thr609=)
c.1794G>T (p.Thr598=)
c.1734G>T (p.Thr578=)
c.1668G>T (p.Thr556=)
c.732G>T (p.Thr244=)
n.2063G>T
c.1863G>T (p.Thr621=)
n.1592G>T
n.1589G>T
2g.238397534T>ACA351245998TRAF3IP1c.1765T>A (p.Ser589Thr)
c.1567T>A (p.Ser523Thr)
n.776T>A
n.113T>A
c.1564T>A (p.Ser522Thr)
c.1867T>A (p.Ser623Thr)
c.1828T>A (p.Ser610Thr)
c.1795T>A (p.Ser599Thr)
c.1735T>A (p.Ser579Thr)
c.1669T>A (p.Ser557Thr)
c.733T>A (p.Ser245Thr)
n.2064T>A
c.1864T>A (p.Ser622Thr)
n.1593T>A
n.1590T>A
2g.238397534T>CCA351246005TRAF3IP1c.1765T>C (p.Ser589Pro)
c.1567T>C (p.Ser523Pro)
n.776T>C
n.113T>C
c.1564T>C (p.Ser522Pro)
c.1867T>C (p.Ser623Pro)
c.1828T>C (p.Ser610Pro)
c.1795T>C (p.Ser599Pro)
c.1735T>C (p.Ser579Pro)
c.1669T>C (p.Ser557Pro)
c.733T>C (p.Ser245Pro)
n.2064T>C
c.1864T>C (p.Ser622Pro)
n.1593T>C
n.1590T>C
2g.238397534T>GCA351246008TRAF3IP1c.1765T>G (p.Ser589Ala)
c.1567T>G (p.Ser523Ala)
n.776T>G
n.113T>G
c.1564T>G (p.Ser522Ala)
c.1867T>G (p.Ser623Ala)
c.1828T>G (p.Ser610Ala)
c.1795T>G (p.Ser599Ala)
c.1735T>G (p.Ser579Ala)
c.1669T>G (p.Ser557Ala)
c.733T>G (p.Ser245Ala)
n.2064T>G
c.1864T>G (p.Ser622Ala)
n.1593T>G
n.1590T>G
2g.238397535C>ACA351246011TRAF3IP1c.1766C>A (p.Ser589Tyr)
c.1568C>A (p.Ser523Tyr)
n.777C>A
n.114C>A
c.1565C>A (p.Ser522Tyr)
c.1868C>A (p.Ser623Tyr)
c.1829C>A (p.Ser610Tyr)
c.1796C>A (p.Ser599Tyr)
c.1736C>A (p.Ser579Tyr)
c.1670C>A (p.Ser557Tyr)
c.734C>A (p.Ser245Tyr)
n.2065C>A
c.1865C>A (p.Ser622Tyr)
n.1594C>A
n.1591C>A
2g.238397535C>GCA351246013TRAF3IP1c.1766C>G (p.Ser589Cys)
c.1568C>G (p.Ser523Cys)
n.777C>G
n.114C>G
c.1565C>G (p.Ser522Cys)
c.1868C>G (p.Ser623Cys)
c.1829C>G (p.Ser610Cys)
c.1796C>G (p.Ser599Cys)
c.1736C>G (p.Ser579Cys)
c.1670C>G (p.Ser557Cys)
c.734C>G (p.Ser245Cys)
n.2065C>G
c.1865C>G (p.Ser622Cys)
n.1594C>G
n.1591C>G
2g.238397535C>TCA351246017TRAF3IP1c.1766C>T (p.Ser589Phe)
c.1568C>T (p.Ser523Phe)
n.777C>T
n.114C>T
c.1565C>T (p.Ser522Phe)
c.1868C>T (p.Ser623Phe)
c.1829C>T (p.Ser610Phe)
c.1796C>T (p.Ser599Phe)
c.1736C>T (p.Ser579Phe)
c.1670C>T (p.Ser557Phe)
c.734C>T (p.Ser245Phe)
n.2065C>T
c.1865C>T (p.Ser622Phe)
n.1594C>T
n.1591C>T
2g.238397536C>ACA432228108TRAF3IP1c.1767C>A (p.Ser589=)
c.1569C>A (p.Ser523=)
n.778C>A
n.115C>A
c.1566C>A (p.Ser522=)
c.1869C>A (p.Ser623=)
c.1830C>A (p.Ser610=)
c.1797C>A (p.Ser599=)
c.1737C>A (p.Ser579=)
c.1671C>A (p.Ser557=)
c.735C>A (p.Ser245=)
n.2066C>A
c.1866C>A (p.Ser622=)
n.1595C>A
n.1592C>A
2g.238397536C=CA1338105447TRAF3IP1c.1767C= (p.Ser589=)
c.1569C= (p.Ser523=)
n.778C=
n.115C=
c.1566C= (p.Ser522=)
c.1869C= (p.Ser623=)
c.1830C= (p.Ser610=)
c.1797C= (p.Ser599=)
c.1737C= (p.Ser579=)
c.1671C= (p.Ser557=)
c.735C= (p.Ser245=)
n.2066C=
c.1866C= (p.Ser622=)
n.1595C=
n.1592C=
2g.238397536C>GCA432228107TRAF3IP1c.1767C>G (p.Ser589=)
c.1569C>G (p.Ser523=)
n.778C>G
n.115C>G
c.1566C>G (p.Ser522=)
c.1869C>G (p.Ser623=)
c.1830C>G (p.Ser610=)
c.1797C>G (p.Ser599=)
c.1737C>G (p.Ser579=)
c.1671C>G (p.Ser557=)
c.735C>G (p.Ser245=)
n.2066C>G
c.1866C>G (p.Ser622=)
n.1595C>G
n.1592C>G
2g.238397536C>TCA2198572TRAF3IP1c.1767C>T (p.Ser589=)
c.1569C>T (p.Ser523=)
n.778C>T
n.115C>T
c.1566C>T (p.Ser522=)
c.1869C>T (p.Ser623=)
c.1830C>T (p.Ser610=)
c.1797C>T (p.Ser599=)
c.1737C>T (p.Ser579=)
c.1671C>T (p.Ser557=)
c.735C>T (p.Ser245=)
n.2066C>T
c.1866C>T (p.Ser622=)
n.1595C>T
n.1592C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397537A=CA1338105448TRAF3IP1c.1768A= (p.Ile590=)
c.1570A= (p.Ile524=)
n.779A=
n.116A=
c.1567A= (p.Ile523=)
c.1870A= (p.Ile624=)
c.1831A= (p.Ile611=)
c.1798A= (p.Ile600=)
c.1738A= (p.Ile580=)
c.1672A= (p.Ile558=)
c.736A= (p.Ile246=)
n.2067A=
c.1867A= (p.Ile623=)
n.1596A=
n.1593A=
2g.238397537A>CCA351246021TRAF3IP1c.1768A>C (p.Ile590Leu)
c.1570A>C (p.Ile524Leu)
n.779A>C
n.116A>C
c.1567A>C (p.Ile523Leu)
c.1870A>C (p.Ile624Leu)
c.1831A>C (p.Ile611Leu)
c.1798A>C (p.Ile600Leu)
c.1738A>C (p.Ile580Leu)
c.1672A>C (p.Ile558Leu)
c.736A>C (p.Ile246Leu)
n.2067A>C
c.1867A>C (p.Ile623Leu)
n.1596A>C
n.1593A>C
2g.238397537A>GCA351246024TRAF3IP1c.1768A>G (p.Ile590Val)
c.1570A>G (p.Ile524Val)
n.779A>G
n.116A>G
c.1567A>G (p.Ile523Val)
c.1870A>G (p.Ile624Val)
c.1831A>G (p.Ile611Val)
c.1798A>G (p.Ile600Val)
c.1738A>G (p.Ile580Val)
c.1672A>G (p.Ile558Val)
c.736A>G (p.Ile246Val)
n.2067A>G
c.1867A>G (p.Ile623Val)
n.1596A>G
n.1593A>G
ClinVar dbSNP gnomAD v4
2g.238397537A>TCA351246025TRAF3IP1c.1768A>T (p.Ile590Phe)
c.1570A>T (p.Ile524Phe)
n.779A>T
n.116A>T
c.1567A>T (p.Ile523Phe)
c.1870A>T (p.Ile624Phe)
c.1831A>T (p.Ile611Phe)
c.1798A>T (p.Ile600Phe)
c.1738A>T (p.Ile580Phe)
c.1672A>T (p.Ile558Phe)
c.736A>T (p.Ile246Phe)
n.2067A>T
c.1867A>T (p.Ile623Phe)
n.1596A>T
n.1593A>T
gnomAD v4
2g.238397538T>ACA351246032TRAF3IP1c.1769T>A (p.Ile590Asn)
c.1571T>A (p.Ile524Asn)
n.780T>A
n.117T>A
c.1568T>A (p.Ile523Asn)
c.1871T>A (p.Ile624Asn)
c.1832T>A (p.Ile611Asn)
c.1799T>A (p.Ile600Asn)
c.1739T>A (p.Ile580Asn)
c.1673T>A (p.Ile558Asn)
c.737T>A (p.Ile246Asn)
n.2068T>A
c.1868T>A (p.Ile623Asn)
n.1597T>A
n.1594T>A
2g.238397538T>CCA351246030TRAF3IP1c.1769T>C (p.Ile590Thr)
c.1571T>C (p.Ile524Thr)
n.780T>C
n.117T>C
c.1568T>C (p.Ile523Thr)
c.1871T>C (p.Ile624Thr)
c.1832T>C (p.Ile611Thr)
c.1799T>C (p.Ile600Thr)
c.1739T>C (p.Ile580Thr)
c.1673T>C (p.Ile558Thr)
c.737T>C (p.Ile246Thr)
n.2068T>C
c.1868T>C (p.Ile623Thr)
n.1597T>C
n.1594T>C
2g.238397538T>GCA351246028TRAF3IP1c.1769T>G (p.Ile590Ser)
c.1571T>G (p.Ile524Ser)
n.780T>G
n.117T>G
c.1568T>G (p.Ile523Ser)
c.1871T>G (p.Ile624Ser)
c.1832T>G (p.Ile611Ser)
c.1799T>G (p.Ile600Ser)
c.1739T>G (p.Ile580Ser)
c.1673T>G (p.Ile558Ser)
c.737T>G (p.Ile246Ser)
n.2068T>G
c.1868T>G (p.Ile623Ser)
n.1597T>G
n.1594T>G
2g.238397539C>ACA432228112TRAF3IP1c.1770C>A (p.Ile590=)
c.1572C>A (p.Ile524=)
n.781C>A
n.118C>A
c.1569C>A (p.Ile523=)
c.1872C>A (p.Ile624=)
c.1833C>A (p.Ile611=)
c.1800C>A (p.Ile600=)
c.1740C>A (p.Ile580=)
c.1674C>A (p.Ile558=)
c.738C>A (p.Ile246=)
n.2069C>A
c.1869C>A (p.Ile623=)
n.1598C>A
n.1595C>A
2g.238397539C=CA1338105449TRAF3IP1c.1770C= (p.Ile590=)
c.1572C= (p.Ile524=)
n.781C=
n.118C=
c.1569C= (p.Ile523=)
c.1872C= (p.Ile624=)
c.1833C= (p.Ile611=)
c.1800C= (p.Ile600=)
c.1740C= (p.Ile580=)
c.1674C= (p.Ile558=)
c.738C= (p.Ile246=)
n.2069C=
c.1869C= (p.Ile623=)
n.1598C=
n.1595C=
2g.238397539C>GCA351246039TRAF3IP1c.1770C>G (p.Ile590Met)
c.1572C>G (p.Ile524Met)
n.781C>G
n.118C>G
c.1569C>G (p.Ile523Met)
c.1872C>G (p.Ile624Met)
c.1833C>G (p.Ile611Met)
c.1800C>G (p.Ile600Met)
c.1740C>G (p.Ile580Met)
c.1674C>G (p.Ile558Met)
c.738C>G (p.Ile246Met)
n.2069C>G
c.1869C>G (p.Ile623Met)
n.1598C>G
n.1595C>G
dbSNP
2g.238397539C>TCA2198573TRAF3IP1c.1770C>T (p.Ile590=)
c.1572C>T (p.Ile524=)
n.781C>T
n.118C>T
c.1569C>T (p.Ile523=)
c.1872C>T (p.Ile624=)
c.1833C>T (p.Ile611=)
c.1800C>T (p.Ile600=)
c.1740C>T (p.Ile580=)
c.1674C>T (p.Ile558=)
c.738C>T (p.Ile246=)
n.2069C>T
c.1869C>T (p.Ile623=)
n.1598C>T
n.1595C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397540C>ACA351246041TRAF3IP1c.1771C>A (p.Gln591Lys)
c.1573C>A (p.Gln525Lys)
n.782C>A
n.119C>A
c.1570C>A (p.Gln524Lys)
c.1873C>A (p.Gln625Lys)
c.1834C>A (p.Gln612Lys)
c.1801C>A (p.Gln601Lys)
c.1741C>A (p.Gln581Lys)
c.1675C>A (p.Gln559Lys)
c.739C>A (p.Gln247Lys)
c.1870C>A (p.Gln624Lys)
n.1599C>A
n.1596C>A
2g.238397540C>GCA351246043TRAF3IP1c.1771C>G (p.Gln591Glu)
c.1573C>G (p.Gln525Glu)
n.782C>G
n.119C>G
c.1570C>G (p.Gln524Glu)
c.1873C>G (p.Gln625Glu)
c.1834C>G (p.Gln612Glu)
c.1801C>G (p.Gln601Glu)
c.1741C>G (p.Gln581Glu)
c.1675C>G (p.Gln559Glu)
c.739C>G (p.Gln247Glu)
c.1870C>G (p.Gln624Glu)
n.1599C>G
n.1596C>G
2g.238397540C>TCA351246045TRAF3IP1c.1771C>T (p.Gln591Ter)
c.1573C>T (p.Gln525Ter)
n.782C>T
n.119C>T
c.1570C>T (p.Gln524Ter)
c.1873C>T (p.Gln625Ter)
c.1834C>T (p.Gln612Ter)
c.1801C>T (p.Gln601Ter)
c.1741C>T (p.Gln581Ter)
c.1675C>T (p.Gln559Ter)
c.739C>T (p.Gln247Ter)
c.1870C>T (p.Gln624Ter)
n.1599C>T
n.1596C>T
2g.238397541A=CA1338105450TRAF3IP1c.1772A= (p.Gln591=)
c.1574A= (p.Gln525=)
n.783A=
n.120A=
c.1571A= (p.Gln524=)
c.1874A= (p.Gln625=)
c.1835A= (p.Gln612=)
c.1802A= (p.Gln601=)
c.1742A= (p.Gln581=)
c.1676A= (p.Gln559=)
c.740A= (p.Gln247=)
c.1871A= (p.Gln624=)
n.1600A=
n.1597A=
2g.238397541A>CCA351246047TRAF3IP1c.1772A>C (p.Gln591Pro)
c.1574A>C (p.Gln525Pro)
n.783A>C
n.120A>C
c.1571A>C (p.Gln524Pro)
c.1874A>C (p.Gln625Pro)
c.1835A>C (p.Gln612Pro)
c.1802A>C (p.Gln601Pro)
c.1742A>C (p.Gln581Pro)
c.1676A>C (p.Gln559Pro)
c.740A>C (p.Gln247Pro)
c.1871A>C (p.Gln624Pro)
n.1600A>C
n.1597A>C
2g.238397541A>GCA351246048TRAF3IP1c.1772A>G (p.Gln591Arg)
c.1574A>G (p.Gln525Arg)
n.783A>G
n.120A>G
c.1571A>G (p.Gln524Arg)
c.1874A>G (p.Gln625Arg)
c.1835A>G (p.Gln612Arg)
c.1802A>G (p.Gln601Arg)
c.1742A>G (p.Gln581Arg)
c.1676A>G (p.Gln559Arg)
c.740A>G (p.Gln247Arg)
c.1871A>G (p.Gln624Arg)
n.1600A>G
n.1597A>G
2g.238397541A>TCA351246049TRAF3IP1c.1772A>T (p.Gln591Leu)
c.1574A>T (p.Gln525Leu)
n.783A>T
n.120A>T
c.1571A>T (p.Gln524Leu)
c.1874A>T (p.Gln625Leu)
c.1835A>T (p.Gln612Leu)
c.1802A>T (p.Gln601Leu)
c.1742A>T (p.Gln581Leu)
c.1676A>T (p.Gln559Leu)
c.740A>T (p.Gln247Leu)
c.1871A>T (p.Gln624Leu)
n.1600A>T
n.1597A>T
dbSNP gnomAD v4
2g.238397542G>ACA432228116TRAF3IP1c.1773G>A (p.Gln591=)
c.1575G>A (p.Gln525=)
n.784G>A
n.121G>A
c.1572G>A (p.Gln524=)
c.1875G>A (p.Gln625=)
c.1836G>A (p.Gln612=)
c.1803G>A (p.Gln601=)
c.1743G>A (p.Gln581=)
c.1677G>A (p.Gln559=)
c.741G>A (p.Gln247=)
c.1872G>A (p.Gln624=)
n.1601G>A
n.1598G>A
2g.238397542G>CCA351246050TRAF3IP1c.1773G>C (p.Gln591His)
c.1575G>C (p.Gln525His)
n.784G>C
n.121G>C
c.1572G>C (p.Gln524His)
c.1875G>C (p.Gln625His)
c.1836G>C (p.Gln612His)
c.1803G>C (p.Gln601His)
c.1743G>C (p.Gln581His)
c.1677G>C (p.Gln559His)
c.741G>C (p.Gln247His)
c.1872G>C (p.Gln624His)
n.1601G>C
n.1598G>C
2g.238397542G=CA1338105451TRAF3IP1c.1773G= (p.Gln591=)
c.1575G= (p.Gln525=)
n.784G=
n.121G=
c.1572G= (p.Gln524=)
c.1875G= (p.Gln625=)
c.1836G= (p.Gln612=)
c.1803G= (p.Gln601=)
c.1743G= (p.Gln581=)
c.1677G= (p.Gln559=)
c.741G= (p.Gln247=)
c.1872G= (p.Gln624=)
n.1601G=
n.1598G=
2g.238397542G>TCA2198574TRAF3IP1c.1773G>T (p.Gln591His)
c.1575G>T (p.Gln525His)
n.784G>T
n.121G>T
c.1572G>T (p.Gln524His)
c.1875G>T (p.Gln625His)
c.1836G>T (p.Gln612His)
c.1803G>T (p.Gln601His)
c.1743G>T (p.Gln581His)
c.1677G>T (p.Gln559His)
c.741G>T (p.Gln247His)
c.1872G>T (p.Gln624His)
n.1601G>T
n.1598G>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.238397543A=CA1338105452TRAF3IP1c.1774A= (p.Thr592=)
c.1576A= (p.Thr526=)
n.785A=
n.122A=
c.1573A= (p.Thr525=)
c.1876A= (p.Thr626=)
c.1837A= (p.Thr613=)
c.1804A= (p.Thr602=)
c.1744A= (p.Thr582=)
c.1678A= (p.Thr560=)
c.742A= (p.Thr248=)
c.1873A= (p.Thr625=)
n.1602A=
n.1599A=
2g.238397543A>CCA351246052TRAF3IP1c.1774A>C (p.Thr592Pro)
c.1576A>C (p.Thr526Pro)
n.785A>C
n.122A>C
c.1573A>C (p.Thr525Pro)
c.1876A>C (p.Thr626Pro)
c.1837A>C (p.Thr613Pro)
c.1804A>C (p.Thr602Pro)
c.1744A>C (p.Thr582Pro)
c.1678A>C (p.Thr560Pro)
c.742A>C (p.Thr248Pro)
c.1873A>C (p.Thr625Pro)
n.1602A>C
n.1599A>C
2g.238397543A>GCA351246053TRAF3IP1c.1774A>G (p.Thr592Ala)
c.1576A>G (p.Thr526Ala)
n.785A>G
n.122A>G
c.1573A>G (p.Thr525Ala)
c.1876A>G (p.Thr626Ala)
c.1837A>G (p.Thr613Ala)
c.1804A>G (p.Thr602Ala)
c.1744A>G (p.Thr582Ala)
c.1678A>G (p.Thr560Ala)
c.742A>G (p.Thr248Ala)
c.1873A>G (p.Thr625Ala)
n.1602A>G
n.1599A>G
dbSNP gnomAD v3 gnomAD v4
2g.238397543A>TCA351246056TRAF3IP1c.1774A>T (p.Thr592Ser)
c.1576A>T (p.Thr526Ser)
n.785A>T
n.122A>T
c.1573A>T (p.Thr525Ser)
c.1876A>T (p.Thr626Ser)
c.1837A>T (p.Thr613Ser)
c.1804A>T (p.Thr602Ser)
c.1744A>T (p.Thr582Ser)
c.1678A>T (p.Thr560Ser)
c.742A>T (p.Thr248Ser)
c.1873A>T (p.Thr625Ser)
n.1602A>T
n.1599A>T
2g.238397544C>ACA351246060TRAF3IP1c.1775C>A (p.Thr592Asn)
c.1577C>A (p.Thr526Asn)
n.786C>A
n.123C>A
c.1574C>A (p.Thr525Asn)
c.1877C>A (p.Thr626Asn)
c.1838C>A (p.Thr613Asn)
c.1805C>A (p.Thr602Asn)
c.1745C>A (p.Thr582Asn)
c.1679C>A (p.Thr560Asn)
c.743C>A (p.Thr248Asn)
c.1874C>A (p.Thr625Asn)
n.1603C>A
n.1600C>A
2g.238397544C>GCA351246062TRAF3IP1c.1775C>G (p.Thr592Ser)
c.1577C>G (p.Thr526Ser)
n.786C>G
n.123C>G
c.1574C>G (p.Thr525Ser)
c.1877C>G (p.Thr626Ser)
c.1838C>G (p.Thr613Ser)
c.1805C>G (p.Thr602Ser)
c.1745C>G (p.Thr582Ser)
c.1679C>G (p.Thr560Ser)
c.743C>G (p.Thr248Ser)
c.1874C>G (p.Thr625Ser)
n.1603C>G
n.1600C>G
2g.238397544C>TCA351246064TRAF3IP1c.1775C>T (p.Thr592Ile)
c.1577C>T (p.Thr526Ile)
n.786C>T
n.123C>T
c.1574C>T (p.Thr525Ile)
c.1877C>T (p.Thr626Ile)
c.1838C>T (p.Thr613Ile)
c.1805C>T (p.Thr602Ile)
c.1745C>T (p.Thr582Ile)
c.1679C>T (p.Thr560Ile)
c.743C>T (p.Thr248Ile)
c.1874C>T (p.Thr625Ile)
n.1603C>T
n.1600C>T
gnomAD v4
2g.238397545C>ACA432228120TRAF3IP1c.1776C>A (p.Thr592=)
c.1578C>A (p.Thr526=)
n.787C>A
n.124C>A
c.1575C>A (p.Thr525=)
c.1878C>A (p.Thr626=)
c.1839C>A (p.Thr613=)
c.1806C>A (p.Thr602=)
c.1746C>A (p.Thr582=)
c.1680C>A (p.Thr560=)
c.744C>A (p.Thr248=)
c.1875C>A (p.Thr625=)
n.1604C>A
n.1601C>A
2g.238397545C=CA1338105453TRAF3IP1c.1776C= (p.Thr592=)
c.1578C= (p.Thr526=)
n.787C=
n.124C=
c.1575C= (p.Thr525=)
c.1878C= (p.Thr626=)
c.1839C= (p.Thr613=)
c.1806C= (p.Thr602=)
c.1746C= (p.Thr582=)
c.1680C= (p.Thr560=)
c.744C= (p.Thr248=)
c.1875C= (p.Thr625=)
n.1604C=
n.1601C=
2g.238397545C>GCA432228118TRAF3IP1c.1776C>G (p.Thr592=)
c.1578C>G (p.Thr526=)
n.787C>G
n.124C>G
c.1575C>G (p.Thr525=)
c.1878C>G (p.Thr626=)
c.1839C>G (p.Thr613=)
c.1806C>G (p.Thr602=)
c.1746C>G (p.Thr582=)
c.1680C>G (p.Thr560=)
c.744C>G (p.Thr248=)
c.1875C>G (p.Thr625=)
n.1604C>G
n.1601C>G
dbSNP gnomAD v2 gnomAD v4
2g.238397545C>TCA432228119TRAF3IP1c.1776C>T (p.Thr592=)
c.1578C>T (p.Thr526=)
n.787C>T
n.124C>T
c.1575C>T (p.Thr525=)
c.1878C>T (p.Thr626=)
c.1839C>T (p.Thr613=)
c.1806C>T (p.Thr602=)
c.1746C>T (p.Thr582=)
c.1680C>T (p.Thr560=)
c.744C>T (p.Thr248=)
c.1875C>T (p.Thr625=)
n.1604C>T
n.1601C>T
2g.238397546C>ACA351246070TRAF3IP1c.1777C>A (p.Leu593Met)
c.1579C>A (p.Leu527Met)
n.788C>A
n.125C>A
c.1576C>A (p.Leu526Met)
c.1879C>A (p.Leu627Met)
c.1840C>A (p.Leu614Met)
c.1807C>A (p.Leu603Met)
c.1747C>A (p.Leu583Met)
c.1681C>A (p.Leu561Met)
c.745C>A (p.Leu249Met)
c.1876C>A (p.Leu626Met)
n.1605C>A
n.1602C>A
2g.238397546C=CA1338105454TRAF3IP1c.1777C= (p.Leu593=)
c.1579C= (p.Leu527=)
n.788C=
n.125C=
c.1576C= (p.Leu526=)
c.1879C= (p.Leu627=)
c.1840C= (p.Leu614=)
c.1807C= (p.Leu603=)
c.1747C= (p.Leu583=)
c.1681C= (p.Leu561=)
c.745C= (p.Leu249=)
c.1876C= (p.Leu626=)
n.1605C=
n.1602C=
2g.238397546C>GCA351246076TRAF3IP1c.1777C>G (p.Leu593Val)
c.1579C>G (p.Leu527Val)
n.788C>G
n.125C>G
c.1576C>G (p.Leu526Val)
c.1879C>G (p.Leu627Val)
c.1840C>G (p.Leu614Val)
c.1807C>G (p.Leu603Val)
c.1747C>G (p.Leu583Val)
c.1681C>G (p.Leu561Val)
c.745C>G (p.Leu249Val)
c.1876C>G (p.Leu626Val)
n.1605C>G
n.1602C>G
2g.238397546C>TCA2198575TRAF3IP1c.1777C>T (p.Leu593=)
c.1579C>T (p.Leu527=)
n.788C>T
n.125C>T
c.1576C>T (p.Leu526=)
c.1879C>T (p.Leu627=)
c.1840C>T (p.Leu614=)
c.1807C>T (p.Leu603=)
c.1747C>T (p.Leu583=)
c.1681C>T (p.Leu561=)
c.745C>T (p.Leu249=)
c.1876C>T (p.Leu626=)
n.1605C>T
n.1602C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397547T>ACA351246080TRAF3IP1c.1778T>A (p.Leu593Gln)
c.1580T>A (p.Leu527Gln)
n.789T>A
n.126T>A
c.1577T>A (p.Leu526Gln)
c.1880T>A (p.Leu627Gln)
c.1841T>A (p.Leu614Gln)
c.1808T>A (p.Leu603Gln)
c.1748T>A (p.Leu583Gln)
c.1682T>A (p.Leu561Gln)
c.746T>A (p.Leu249Gln)
c.1877T>A (p.Leu626Gln)
n.1606T>A
n.1603T>A
2g.238397547T>CCA351246082TRAF3IP1c.1778T>C (p.Leu593Pro)
c.1580T>C (p.Leu527Pro)
n.789T>C
n.126T>C
c.1577T>C (p.Leu526Pro)
c.1880T>C (p.Leu627Pro)
c.1841T>C (p.Leu614Pro)
c.1808T>C (p.Leu603Pro)
c.1748T>C (p.Leu583Pro)
c.1682T>C (p.Leu561Pro)
c.746T>C (p.Leu249Pro)
c.1877T>C (p.Leu626Pro)
n.1606T>C
n.1603T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.238397547T>GCA351246084TRAF3IP1c.1778T>G (p.Leu593Arg)
c.1580T>G (p.Leu527Arg)
n.789T>G
n.126T>G
c.1577T>G (p.Leu526Arg)
c.1880T>G (p.Leu627Arg)
c.1841T>G (p.Leu614Arg)
c.1808T>G (p.Leu603Arg)
c.1748T>G (p.Leu583Arg)
c.1682T>G (p.Leu561Arg)
c.746T>G (p.Leu249Arg)
c.1877T>G (p.Leu626Arg)
n.1606T>G
n.1603T>G
2g.238397547T=CA1338105455TRAF3IP1c.1778T= (p.Leu593=)
c.1580T= (p.Leu527=)
n.789T=
n.126T=
c.1577T= (p.Leu526=)
c.1880T= (p.Leu627=)
c.1841T= (p.Leu614=)
c.1808T= (p.Leu603=)
c.1748T= (p.Leu583=)
c.1682T= (p.Leu561=)
c.746T= (p.Leu249=)
c.1877T= (p.Leu626=)
n.1606T=
n.1603T=
2g.238397548G>ACA432228121TRAF3IP1c.1779G>A (p.Leu593=)
c.1581G>A (p.Leu527=)
n.790G>A
n.127G>A
c.1578G>A (p.Leu526=)
c.1881G>A (p.Leu627=)
c.1842G>A (p.Leu614=)
c.1809G>A (p.Leu603=)
c.1749G>A (p.Leu583=)
c.1683G>A (p.Leu561=)
c.747G>A (p.Leu249=)
c.1878G>A (p.Leu626=)
n.1607G>A
n.1604G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.238397548G>CCA2198576TRAF3IP1c.1779G>C (p.Leu593=)
c.1581G>C (p.Leu527=)
n.790G>C
n.127G>C
c.1578G>C (p.Leu526=)
c.1881G>C (p.Leu627=)
c.1842G>C (p.Leu614=)
c.1809G>C (p.Leu603=)
c.1749G>C (p.Leu583=)
c.1683G>C (p.Leu561=)
c.747G>C (p.Leu249=)
c.1878G>C (p.Leu626=)
n.1607G>C
n.1604G>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397548G=CA1338105456TRAF3IP1c.1779G= (p.Leu593=)
c.1581G= (p.Leu527=)
n.790G=
n.127G=
c.1578G= (p.Leu526=)
c.1881G= (p.Leu627=)
c.1842G= (p.Leu614=)
c.1809G= (p.Leu603=)
c.1749G= (p.Leu583=)
c.1683G= (p.Leu561=)
c.747G= (p.Leu249=)
c.1878G= (p.Leu626=)
n.1607G=
n.1604G=
2g.238397548G>TCA432228131TRAF3IP1c.1779G>T (p.Leu593=)
c.1581G>T (p.Leu527=)
n.790G>T
n.127G>T
c.1578G>T (p.Leu526=)
c.1881G>T (p.Leu627=)
c.1842G>T (p.Leu614=)
c.1809G>T (p.Leu603=)
c.1749G>T (p.Leu583=)
c.1683G>T (p.Leu561=)
c.747G>T (p.Leu249=)
c.1878G>T (p.Leu626=)
n.1607G>T
n.1604G>T
2g.238397549T>ACA351246090TRAF3IP1c.1780T>A (p.Cys594Ser)
c.1582T>A (p.Cys528Ser)
n.791T>A
n.128T>A
c.1579T>A (p.Cys527Ser)
c.1882T>A (p.Cys628Ser)
c.1843T>A (p.Cys615Ser)
c.1810T>A (p.Cys604Ser)
c.1750T>A (p.Cys584Ser)
c.1684T>A (p.Cys562Ser)
c.748T>A (p.Cys250Ser)
c.1879T>A (p.Cys627Ser)
n.1608T>A
n.1605T>A
2g.238397549T>CCA351246092TRAF3IP1c.1780T>C (p.Cys594Arg)
c.1582T>C (p.Cys528Arg)
n.791T>C
n.128T>C
c.1579T>C (p.Cys527Arg)
c.1882T>C (p.Cys628Arg)
c.1843T>C (p.Cys615Arg)
c.1810T>C (p.Cys604Arg)
c.1750T>C (p.Cys584Arg)
c.1684T>C (p.Cys562Arg)
c.748T>C (p.Cys250Arg)
c.1879T>C (p.Cys627Arg)
n.1608T>C
n.1605T>C
2g.238397549T>GCA351246094TRAF3IP1c.1780T>G (p.Cys594Gly)
c.1582T>G (p.Cys528Gly)
n.791T>G
n.128T>G
c.1579T>G (p.Cys527Gly)
c.1882T>G (p.Cys628Gly)
c.1843T>G (p.Cys615Gly)
c.1810T>G (p.Cys604Gly)
c.1750T>G (p.Cys584Gly)
c.1684T>G (p.Cys562Gly)
c.748T>G (p.Cys250Gly)
c.1879T>G (p.Cys627Gly)
n.1608T>G
n.1605T>G
2g.238397550G>ACA351246097TRAF3IP1c.1781G>A (p.Cys594Tyr)
c.1583G>A (p.Cys528Tyr)
n.792G>A
n.129G>A
c.1580G>A (p.Cys527Tyr)
c.1883G>A (p.Cys628Tyr)
c.1844G>A (p.Cys615Tyr)
c.1811G>A (p.Cys604Tyr)
c.1751G>A (p.Cys584Tyr)
c.1685G>A (p.Cys562Tyr)
c.749G>A (p.Cys250Tyr)
c.1880G>A (p.Cys627Tyr)
n.1609G>A
n.1606G>A
COSMIC COSMIC
2g.238397550G>CCA351246100TRAF3IP1c.1781G>C (p.Cys594Ser)
c.1583G>C (p.Cys528Ser)
n.792G>C
n.129G>C
c.1580G>C (p.Cys527Ser)
c.1883G>C (p.Cys628Ser)
c.1844G>C (p.Cys615Ser)
c.1811G>C (p.Cys604Ser)
c.1751G>C (p.Cys584Ser)
c.1685G>C (p.Cys562Ser)
c.749G>C (p.Cys250Ser)
c.1880G>C (p.Cys627Ser)
n.1609G>C
n.1606G>C
2g.238397550G>TCA351246101TRAF3IP1c.1781G>T (p.Cys594Phe)
c.1583G>T (p.Cys528Phe)
n.792G>T
n.129G>T
c.1580G>T (p.Cys527Phe)
c.1883G>T (p.Cys628Phe)
c.1844G>T (p.Cys615Phe)
c.1811G>T (p.Cys604Phe)
c.1751G>T (p.Cys584Phe)
c.1685G>T (p.Cys562Phe)
c.749G>T (p.Cys250Phe)
c.1880G>T (p.Cys627Phe)
n.1609G>T
n.1606G>T
2g.238397551C>ACA351246102TRAF3IP1c.1782C>A (p.Cys594Ter)
c.1584C>A (p.Cys528Ter)
n.793C>A
n.130C>A
c.1581C>A (p.Cys527Ter)
c.1884C>A (p.Cys628Ter)
c.1845C>A (p.Cys615Ter)
c.1812C>A (p.Cys604Ter)
c.1752C>A (p.Cys584Ter)
c.1686C>A (p.Cys562Ter)
c.750C>A (p.Cys250Ter)
c.1881C>A (p.Cys627Ter)
n.1610C>A
n.1607C>A
2g.238397551C>GCA351246103TRAF3IP1c.1782C>G (p.Cys594Trp)
c.1584C>G (p.Cys528Trp)
n.793C>G
n.130C>G
c.1581C>G (p.Cys527Trp)
c.1884C>G (p.Cys628Trp)
c.1845C>G (p.Cys615Trp)
c.1812C>G (p.Cys604Trp)
c.1752C>G (p.Cys584Trp)
c.1686C>G (p.Cys562Trp)
c.750C>G (p.Cys250Trp)
c.1881C>G (p.Cys627Trp)
n.1610C>G
n.1607C>G
2g.238397551C>TCA432228141TRAF3IP1c.1782C>T (p.Cys594=)
c.1584C>T (p.Cys528=)
n.793C>T
n.130C>T
c.1581C>T (p.Cys527=)
c.1884C>T (p.Cys628=)
c.1845C>T (p.Cys615=)
c.1812C>T (p.Cys604=)
c.1752C>T (p.Cys584=)
c.1686C>T (p.Cys562=)
c.750C>T (p.Cys250=)
c.1881C>T (p.Cys627=)
n.1610C>T
n.1607C>T
gnomAD v4
2g.238397552A>CCA351246104TRAF3IP1c.1783A>C (p.Lys595Gln)
c.1585A>C (p.Lys529Gln)
n.794A>C
n.131A>C
c.1582A>C (p.Lys528Gln)
c.1885A>C (p.Lys629Gln)
c.1846A>C (p.Lys616Gln)
c.1813A>C (p.Lys605Gln)
c.1753A>C (p.Lys585Gln)
c.1687A>C (p.Lys563Gln)
c.751A>C (p.Lys251Gln)
c.1882A>C (p.Lys628Gln)
n.1611A>C
n.1608A>C
2g.238397552A>GCA351246108TRAF3IP1c.1783A>G (p.Lys595Glu)
c.1585A>G (p.Lys529Glu)
n.794A>G
n.131A>G
c.1582A>G (p.Lys528Glu)
c.1885A>G (p.Lys629Glu)
c.1846A>G (p.Lys616Glu)
c.1813A>G (p.Lys605Glu)
c.1753A>G (p.Lys585Glu)
c.1687A>G (p.Lys563Glu)
c.751A>G (p.Lys251Glu)
c.1882A>G (p.Lys628Glu)
n.1611A>G
n.1608A>G
2g.238397552A>TCA351246106TRAF3IP1c.1783A>T (p.Lys595Ter)
c.1585A>T (p.Lys529Ter)
n.794A>T
n.131A>T
c.1582A>T (p.Lys528Ter)
c.1885A>T (p.Lys629Ter)
c.1846A>T (p.Lys616Ter)
c.1813A>T (p.Lys605Ter)
c.1753A>T (p.Lys585Ter)
c.1687A>T (p.Lys563Ter)
c.751A>T (p.Lys251Ter)
c.1882A>T (p.Lys628Ter)
n.1611A>T
n.1608A>T
2g.238397553A=CA1338105457TRAF3IP1c.1784A= (p.Lys595=)
c.1586A= (p.Lys529=)
n.795A=
n.132A=
c.1583A= (p.Lys528=)
c.1886A= (p.Lys629=)
c.1847A= (p.Lys616=)
c.1814A= (p.Lys605=)
c.1754A= (p.Lys585=)
c.1688A= (p.Lys563=)
c.752A= (p.Lys251=)
c.1883A= (p.Lys628=)
n.1612A=
n.1609A=
2g.238397553A>CCA2198577TRAF3IP1c.1784A>C (p.Lys595Thr)
c.1586A>C (p.Lys529Thr)
n.795A>C
n.132A>C
c.1583A>C (p.Lys528Thr)
c.1886A>C (p.Lys629Thr)
c.1847A>C (p.Lys616Thr)
c.1814A>C (p.Lys605Thr)
c.1754A>C (p.Lys585Thr)
c.1688A>C (p.Lys563Thr)
c.752A>C (p.Lys251Thr)
c.1883A>C (p.Lys628Thr)
n.1612A>C
n.1609A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397553A>GCA351246111TRAF3IP1c.1784A>G (p.Lys595Arg)
c.1586A>G (p.Lys529Arg)
n.795A>G
n.132A>G
c.1583A>G (p.Lys528Arg)
c.1886A>G (p.Lys629Arg)
c.1847A>G (p.Lys616Arg)
c.1814A>G (p.Lys605Arg)
c.1754A>G (p.Lys585Arg)
c.1688A>G (p.Lys563Arg)
c.752A>G (p.Lys251Arg)
c.1883A>G (p.Lys628Arg)
n.1612A>G
n.1609A>G
dbSNP gnomAD v2 gnomAD v4
2g.238397553A>TCA351246123TRAF3IP1c.1784A>T (p.Lys595Met)
c.1586A>T (p.Lys529Met)
n.795A>T
n.132A>T
c.1583A>T (p.Lys528Met)
c.1886A>T (p.Lys629Met)
c.1847A>T (p.Lys616Met)
c.1814A>T (p.Lys605Met)
c.1754A>T (p.Lys585Met)
c.1688A>T (p.Lys563Met)
c.752A>T (p.Lys251Met)
c.1883A>T (p.Lys628Met)
n.1612A>T
n.1609A>T
2g.238397554G>ACA432228166TRAF3IP1c.1785G>A (p.Lys595=)
c.1587G>A (p.Lys529=)
n.796G>A
n.133G>A
c.1584G>A (p.Lys528=)
c.1887G>A (p.Lys629=)
c.1848G>A (p.Lys616=)
c.1815G>A (p.Lys605=)
c.1755G>A (p.Lys585=)
c.1689G>A (p.Lys563=)
c.753G>A (p.Lys251=)
c.1884G>A (p.Lys628=)
n.1613G>A
n.1610G>A
2g.238397554G>CCA351246128TRAF3IP1c.1785G>C (p.Lys595Asn)
c.1587G>C (p.Lys529Asn)
n.796G>C
n.133G>C
c.1584G>C (p.Lys528Asn)
c.1887G>C (p.Lys629Asn)
c.1848G>C (p.Lys616Asn)
c.1815G>C (p.Lys605Asn)
c.1755G>C (p.Lys585Asn)
c.1689G>C (p.Lys563Asn)
c.753G>C (p.Lys251Asn)
c.1884G>C (p.Lys628Asn)
n.1613G>C
n.1610G>C
2g.238397554G>TCA351246130TRAF3IP1c.1785G>T (p.Lys595Asn)
c.1587G>T (p.Lys529Asn)
n.796G>T
n.133G>T
c.1584G>T (p.Lys528Asn)
c.1887G>T (p.Lys629Asn)
c.1848G>T (p.Lys616Asn)
c.1815G>T (p.Lys605Asn)
c.1755G>T (p.Lys585Asn)
c.1689G>T (p.Lys563Asn)
c.753G>T (p.Lys251Asn)
c.1884G>T (p.Lys628Asn)
n.1613G>T
n.1610G>T
2g.238397555A>CCA351246134TRAF3IP1c.1786A>C (p.Ser596Arg)
c.1588A>C (p.Ser530Arg)
n.797A>C
n.134A>C
c.1585A>C (p.Ser529Arg)
c.1888A>C (p.Ser630Arg)
c.1849A>C (p.Ser617Arg)
c.1816A>C (p.Ser606Arg)
c.1756A>C (p.Ser586Arg)
c.1690A>C (p.Ser564Arg)
c.754A>C (p.Ser252Arg)
c.1885A>C (p.Ser629Arg)
n.1614A>C
n.1611A>C
2g.238397555A>GCA351246136TRAF3IP1c.1786A>G (p.Ser596Gly)
c.1588A>G (p.Ser530Gly)
n.797A>G
n.134A>G
c.1585A>G (p.Ser529Gly)
c.1888A>G (p.Ser630Gly)
c.1849A>G (p.Ser617Gly)
c.1816A>G (p.Ser606Gly)
c.1756A>G (p.Ser586Gly)
c.1690A>G (p.Ser564Gly)
c.754A>G (p.Ser252Gly)
c.1885A>G (p.Ser629Gly)
n.1614A>G
n.1611A>G
2g.238397555A>TCA351246139TRAF3IP1c.1786A>T (p.Ser596Cys)
c.1588A>T (p.Ser530Cys)
n.797A>T
n.134A>T
c.1585A>T (p.Ser529Cys)
c.1888A>T (p.Ser630Cys)
c.1849A>T (p.Ser617Cys)
c.1816A>T (p.Ser606Cys)
c.1756A>T (p.Ser586Cys)
c.1690A>T (p.Ser564Cys)
c.754A>T (p.Ser252Cys)
c.1885A>T (p.Ser629Cys)
n.1614A>T
n.1611A>T
2g.238397556G>ACA351246141TRAF3IP1c.1787G>A (p.Ser596Asn)
c.1589G>A (p.Ser530Asn)
n.798G>A
n.135G>A
c.1586G>A (p.Ser529Asn)
c.1889G>A (p.Ser630Asn)
c.1850G>A (p.Ser617Asn)
c.1817G>A (p.Ser606Asn)
c.1757G>A (p.Ser586Asn)
c.1691G>A (p.Ser564Asn)
c.755G>A (p.Ser252Asn)
c.1886G>A (p.Ser629Asn)
n.1615G>A
n.1612G>A
2g.238397556G>CCA351246143TRAF3IP1c.1787G>C (p.Ser596Thr)
c.1589G>C (p.Ser530Thr)
n.798G>C
n.135G>C
c.1586G>C (p.Ser529Thr)
c.1889G>C (p.Ser630Thr)
c.1850G>C (p.Ser617Thr)
c.1817G>C (p.Ser606Thr)
c.1757G>C (p.Ser586Thr)
c.1691G>C (p.Ser564Thr)
c.755G>C (p.Ser252Thr)
c.1886G>C (p.Ser629Thr)
n.1615G>C
n.1612G>C
dbSNP
2g.238397556G=CA1338105458TRAF3IP1c.1787G= (p.Ser596=)
c.1589G= (p.Ser530=)
n.798G=
n.135G=
c.1586G= (p.Ser529=)
c.1889G= (p.Ser630=)
c.1850G= (p.Ser617=)
c.1817G= (p.Ser606=)
c.1757G= (p.Ser586=)
c.1691G= (p.Ser564=)
c.755G= (p.Ser252=)
c.1886G= (p.Ser629=)
n.1615G=
n.1612G=
2g.238397556G>TCA351246146TRAF3IP1c.1787G>T (p.Ser596Ile)
c.1589G>T (p.Ser530Ile)
n.798G>T
n.135G>T
c.1586G>T (p.Ser529Ile)
c.1889G>T (p.Ser630Ile)
c.1850G>T (p.Ser617Ile)
c.1817G>T (p.Ser606Ile)
c.1757G>T (p.Ser586Ile)
c.1691G>T (p.Ser564Ile)
c.755G>T (p.Ser252Ile)
c.1886G>T (p.Ser629Ile)
n.1615G>T
n.1612G>T
2g.238397557C>ACA351246153TRAF3IP1c.1788C>A (p.Ser596Arg)
c.1590C>A (p.Ser530Arg)
n.799C>A
n.136C>A
c.1587C>A (p.Ser529Arg)
c.1890C>A (p.Ser630Arg)
c.1851C>A (p.Ser617Arg)
c.1818C>A (p.Ser606Arg)
c.1758C>A (p.Ser586Arg)
c.1692C>A (p.Ser564Arg)
c.756C>A (p.Ser252Arg)
c.1887C>A (p.Ser629Arg)
n.1616C>A
n.1613C>A
2g.238397557C=CA1338105459TRAF3IP1c.1788C= (p.Ser596=)
c.1590C= (p.Ser530=)
n.799C=
n.136C=
c.1587C= (p.Ser529=)
c.1890C= (p.Ser630=)
c.1851C= (p.Ser617=)
c.1818C= (p.Ser606=)
c.1758C= (p.Ser586=)
c.1692C= (p.Ser564=)
c.756C= (p.Ser252=)
c.1887C= (p.Ser629=)
n.1616C=
n.1613C=
2g.238397557C>GCA351246150TRAF3IP1c.1788C>G (p.Ser596Arg)
c.1590C>G (p.Ser530Arg)
n.799C>G
n.136C>G
c.1587C>G (p.Ser529Arg)
c.1890C>G (p.Ser630Arg)
c.1851C>G (p.Ser617Arg)
c.1818C>G (p.Ser606Arg)
c.1758C>G (p.Ser586Arg)
c.1692C>G (p.Ser564Arg)
c.756C>G (p.Ser252Arg)
c.1887C>G (p.Ser629Arg)
n.1616C>G
n.1613C>G
2g.238397557C>TCA2198578TRAF3IP1c.1788C>T (p.Ser596=)
c.1590C>T (p.Ser530=)
n.799C>T
n.136C>T
c.1587C>T (p.Ser529=)
c.1890C>T (p.Ser630=)
c.1851C>T (p.Ser617=)
c.1818C>T (p.Ser606=)
c.1758C>T (p.Ser586=)
c.1692C>T (p.Ser564=)
c.756C>T (p.Ser252=)
c.1887C>T (p.Ser629=)
n.1616C>T
n.1613C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397558G>ACA2198579TRAF3IP1c.1789G>A (p.Ala597Thr)
c.1591G>A (p.Ala531Thr)
n.800G>A
n.137G>A
c.1588G>A (p.Ala530Thr)
c.1891G>A (p.Ala631Thr)
c.1852G>A (p.Ala618Thr)
c.1819G>A (p.Ala607Thr)
c.1759G>A (p.Ala587Thr)
c.1693G>A (p.Ala565Thr)
c.757G>A (p.Ala253Thr)
c.1888G>A (p.Ala630Thr)
n.1617G>A
n.1614G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.238397558G>CCA351246158TRAF3IP1c.1789G>C (p.Ala597Pro)
c.1591G>C (p.Ala531Pro)
n.800G>C
n.137G>C
c.1588G>C (p.Ala530Pro)
c.1891G>C (p.Ala631Pro)
c.1852G>C (p.Ala618Pro)
c.1819G>C (p.Ala607Pro)
c.1759G>C (p.Ala587Pro)
c.1693G>C (p.Ala565Pro)
c.757G>C (p.Ala253Pro)
c.1888G>C (p.Ala630Pro)
n.1617G>C
n.1614G>C
2g.238397558G=CA1338105460TRAF3IP1c.1789G= (p.Ala597=)
c.1591G= (p.Ala531=)
n.800G=
n.137G=
c.1588G= (p.Ala530=)
c.1891G= (p.Ala631=)
c.1852G= (p.Ala618=)
c.1819G= (p.Ala607=)
c.1759G= (p.Ala587=)
c.1693G= (p.Ala565=)
c.757G= (p.Ala253=)
c.1888G= (p.Ala630=)
n.1617G=
n.1614G=
2g.238397558G>TCA351246160TRAF3IP1c.1789G>T (p.Ala597Ser)
c.1591G>T (p.Ala531Ser)
n.800G>T
n.137G>T
c.1588G>T (p.Ala530Ser)
c.1891G>T (p.Ala631Ser)
c.1852G>T (p.Ala618Ser)
c.1819G>T (p.Ala607Ser)
c.1759G>T (p.Ala587Ser)
c.1693G>T (p.Ala565Ser)
c.757G>T (p.Ala253Ser)
c.1888G>T (p.Ala630Ser)
n.1617G>T
n.1614G>T
dbSNP gnomAD v2 gnomAD v4
2g.238397559C>ACA351246161TRAF3IP1c.1790C>A (p.Ala597Glu)
c.1592C>A (p.Ala531Glu)
n.801C>A
n.138C>A
c.1589C>A (p.Ala530Glu)
c.1892C>A (p.Ala631Glu)
c.1853C>A (p.Ala618Glu)
c.1820C>A (p.Ala607Glu)
c.1760C>A (p.Ala587Glu)
c.1694C>A (p.Ala565Glu)
c.758C>A (p.Ala253Glu)
c.1889C>A (p.Ala630Glu)
n.1618C>A
n.1615C>A
2g.238397559C=CA1338105461TRAF3IP1c.1790C= (p.Ala597=)
c.1592C= (p.Ala531=)
n.801C=
n.138C=
c.1589C= (p.Ala530=)
c.1892C= (p.Ala631=)
c.1853C= (p.Ala618=)
c.1820C= (p.Ala607=)
c.1760C= (p.Ala587=)
c.1694C= (p.Ala565=)
c.758C= (p.Ala253=)
c.1889C= (p.Ala630=)
n.1618C=
n.1615C=
2g.238397559C>GCA351246162TRAF3IP1c.1790C>G (p.Ala597Gly)
c.1592C>G (p.Ala531Gly)
n.801C>G
n.138C>G
c.1589C>G (p.Ala530Gly)
c.1892C>G (p.Ala631Gly)
c.1853C>G (p.Ala618Gly)
c.1820C>G (p.Ala607Gly)
c.1760C>G (p.Ala587Gly)
c.1694C>G (p.Ala565Gly)
c.758C>G (p.Ala253Gly)
c.1889C>G (p.Ala630Gly)
n.1618C>G
n.1615C>G
2g.238397559C>TCA2198580TRAF3IP1c.1790C>T (p.Ala597Val)
c.1592C>T (p.Ala531Val)
n.801C>T
n.138C>T
c.1589C>T (p.Ala530Val)
c.1892C>T (p.Ala631Val)
c.1853C>T (p.Ala618Val)
c.1820C>T (p.Ala607Val)
c.1760C>T (p.Ala587Val)
c.1694C>T (p.Ala565Val)
c.758C>T (p.Ala253Val)
c.1889C>T (p.Ala630Val)
n.1618C>T
n.1615C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397560A=CA1338105462TRAF3IP1c.1791A= (p.Ala597=)
c.1593A= (p.Ala531=)
n.802A=
n.139A=
c.1590A= (p.Ala530=)
c.1893A= (p.Ala631=)
c.1854A= (p.Ala618=)
c.1821A= (p.Ala607=)
c.1761A= (p.Ala587=)
c.1695A= (p.Ala565=)
c.759A= (p.Ala253=)
c.1890A= (p.Ala630=)
n.1619A=
n.1616A=
2g.238397560A>CCA67990838TRAF3IP1c.1791A>C (p.Ala597=)
c.1593A>C (p.Ala531=)
n.802A>C
n.139A>C
c.1590A>C (p.Ala530=)
c.1893A>C (p.Ala631=)
c.1854A>C (p.Ala618=)
c.1821A>C (p.Ala607=)
c.1761A>C (p.Ala587=)
c.1695A>C (p.Ala565=)
c.759A>C (p.Ala253=)
c.1890A>C (p.Ala630=)
n.1619A>C
n.1616A>C
dbSNP gnomAD v2
2g.238397560A>GCA2198581TRAF3IP1c.1791A>G (p.Ala597=)
c.1593A>G (p.Ala531=)
n.802A>G
n.139A>G
c.1590A>G (p.Ala530=)
c.1893A>G (p.Ala631=)
c.1854A>G (p.Ala618=)
c.1821A>G (p.Ala607=)
c.1761A>G (p.Ala587=)
c.1695A>G (p.Ala565=)
c.759A>G (p.Ala253=)
c.1890A>G (p.Ala630=)
n.1619A>G
n.1616A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238397560A>TCA432228194TRAF3IP1c.1791A>T (p.Ala597=)
c.1593A>T (p.Ala531=)
n.802A>T
n.139A>T
c.1590A>T (p.Ala530=)
c.1893A>T (p.Ala631=)
c.1854A>T (p.Ala618=)
c.1821A>T (p.Ala607=)
c.1761A>T (p.Ala587=)
c.1695A>T (p.Ala565=)
c.759A>T (p.Ala253=)
c.1890A>T (p.Ala630=)
n.1619A>T
n.1616A>T
2g.238397561C>ACA351246167TRAF3IP1c.1792C>A (p.Leu598Ile)
c.1594C>A (p.Leu532Ile)
n.803C>A
n.140C>A
c.1591C>A (p.Leu531Ile)
c.1894C>A (p.Leu632Ile)
c.1855C>A (p.Leu619Ile)
c.1822C>A (p.Leu608Ile)
c.1762C>A (p.Leu588Ile)
c.1696C>A (p.Leu566Ile)
c.760C>A (p.Leu254Ile)
c.1891C>A (p.Leu631Ile)
n.1620C>A
n.1617C>A
COSMIC COSMIC
2g.238397561C>GCA351246169TRAF3IP1c.1792C>G (p.Leu598Val)
c.1594C>G (p.Leu532Val)
n.803C>G
n.140C>G
c.1591C>G (p.Leu531Val)
c.1894C>G (p.Leu632Val)
c.1855C>G (p.Leu619Val)
c.1822C>G (p.Leu608Val)
c.1762C>G (p.Leu588Val)
c.1696C>G (p.Leu566Val)
c.760C>G (p.Leu254Val)
c.1891C>G (p.Leu631Val)
n.1620C>G
n.1617C>G
2g.238397561C>TCA351246170TRAF3IP1c.1792C>T (p.Leu598Phe)
c.1594C>T (p.Leu532Phe)
n.803C>T
n.140C>T
c.1591C>T (p.Leu531Phe)
c.1894C>T (p.Leu632Phe)
c.1855C>T (p.Leu619Phe)
c.1822C>T (p.Leu608Phe)
c.1762C>T (p.Leu588Phe)
c.1696C>T (p.Leu566Phe)
c.760C>T (p.Leu254Phe)
c.1891C>T (p.Leu631Phe)
n.1620C>T
n.1617C>T
2g.238397562T>ACA351246174TRAF3IP1c.1793T>A (p.Leu598His)
c.1595T>A (p.Leu532His)
n.804T>A
n.141T>A
c.1592T>A (p.Leu531His)
c.1895T>A (p.Leu632His)
c.1856T>A (p.Leu619His)
c.1823T>A (p.Leu608His)
c.1763T>A (p.Leu588His)
c.1697T>A (p.Leu566His)
c.761T>A (p.Leu254His)
c.1892T>A (p.Leu631His)
n.1621T>A
n.1618T>A
2g.238397562T>CCA351246177TRAF3IP1c.1793T>C (p.Leu598Pro)
c.1595T>C (p.Leu532Pro)
n.804T>C
n.141T>C
c.1592T>C (p.Leu531Pro)
c.1895T>C (p.Leu632Pro)
c.1856T>C (p.Leu619Pro)
c.1823T>C (p.Leu608Pro)
c.1763T>C (p.Leu588Pro)
c.1697T>C (p.Leu566Pro)
c.761T>C (p.Leu254Pro)
c.1892T>C (p.Leu631Pro)
n.1621T>C
n.1618T>C
2g.238397562T>GCA351246180TRAF3IP1c.1793T>G (p.Leu598Arg)
c.1595T>G (p.Leu532Arg)
n.804T>G
n.141T>G
c.1592T>G (p.Leu531Arg)
c.1895T>G (p.Leu632Arg)
c.1856T>G (p.Leu619Arg)
c.1823T>G (p.Leu608Arg)
c.1763T>G (p.Leu588Arg)
c.1697T>G (p.Leu566Arg)
c.761T>G (p.Leu254Arg)
c.1892T>G (p.Leu631Arg)
n.1621T>G
n.1618T>G
2g.238397563T>ACA432228214TRAF3IP1c.1794T>A (p.Leu598=)
c.1596T>A (p.Leu532=)
n.805T>A
n.142T>A
c.1593T>A (p.Leu531=)
c.1896T>A (p.Leu632=)
c.1857T>A (p.Leu619=)
c.1824T>A (p.Leu608=)
c.1764T>A (p.Leu588=)
c.1698T>A (p.Leu566=)
c.762T>A (p.Leu254=)
c.1893T>A (p.Leu631=)
n.1622T>A
n.1619T>A
2g.238397563T>CCA432228212TRAF3IP1c.1794T>C (p.Leu598=)
c.1596T>C (p.Leu532=)
n.805T>C
n.142T>C
c.1593T>C (p.Leu531=)
c.1896T>C (p.Leu632=)
c.1857T>C (p.Leu619=)
c.1824T>C (p.Leu608=)
c.1764T>C (p.Leu588=)
c.1698T>C (p.Leu566=)
c.762T>C (p.Leu254=)
c.1893T>C (p.Leu631=)
n.1622T>C
n.1619T>C
2g.238397563T>GCA432228211TRAF3IP1c.1794T>G (p.Leu598=)
c.1596T>G (p.Leu532=)
n.805T>G
n.142T>G
c.1593T>G (p.Leu531=)
c.1896T>G (p.Leu632=)
c.1857T>G (p.Leu619=)
c.1824T>G (p.Leu608=)
c.1764T>G (p.Leu588=)
c.1698T>G (p.Leu566=)
c.762T>G (p.Leu254=)
c.1893T>G (p.Leu631=)
n.1622T>G
n.1619T>G
2g.238397564C>ACA351246194TRAF3IP1c.1795C>A (p.Pro599Thr)
c.1597C>A (p.Pro533Thr)
n.806C>A
n.143C>A
c.1594C>A (p.Pro532Thr)
c.1897C>A (p.Pro633Thr)
c.1858C>A (p.Pro620Thr)
c.1825C>A (p.Pro609Thr)
c.1765C>A (p.Pro589Thr)
c.1699C>A (p.Pro567Thr)
c.763C>A (p.Pro255Thr)
c.1894C>A (p.Pro632Thr)
n.1623C>A
n.1620C>A
2g.238397564C>GCA351246192TRAF3IP1c.1795C>G (p.Pro599Ala)
c.1597C>G (p.Pro533Ala)
n.806C>G
n.143C>G
c.1594C>G (p.Pro532Ala)
c.1897C>G (p.Pro633Ala)
c.1858C>G (p.Pro620Ala)
c.1825C>G (p.Pro609Ala)
c.1765C>G (p.Pro589Ala)
c.1699C>G (p.Pro567Ala)
c.763C>G (p.Pro255Ala)
c.1894C>G (p.Pro632Ala)
n.1623C>G
n.1620C>G
2g.238397564C>TCA351246188TRAF3IP1c.1795C>T (p.Pro599Ser)
c.1597C>T (p.Pro533Ser)
n.806C>T
n.143C>T
c.1594C>T (p.Pro532Ser)
c.1897C>T (p.Pro633Ser)
c.1858C>T (p.Pro620Ser)
c.1825C>T (p.Pro609Ser)
c.1765C>T (p.Pro589Ser)
c.1699C>T (p.Pro567Ser)
c.763C>T (p.Pro255Ser)
c.1894C>T (p.Pro632Ser)
n.1623C>T
n.1620C>T
gnomAD v4 COSMIC COSMIC
2g.238397565C>ACA351246197TRAF3IP1c.1796C>A (p.Pro599His)
c.1598C>A (p.Pro533His)
n.807C>A
n.144C>A
c.1595C>A (p.Pro532His)
c.1898C>A (p.Pro633His)
c.1859C>A (p.Pro620His)
c.1826C>A (p.Pro609His)
c.1766C>A (p.Pro589His)
c.1700C>A (p.Pro567His)
c.764C>A (p.Pro255His)
c.1895C>A (p.Pro632His)
n.1624C>A
n.1621C>A
2g.238397565C>GCA351246208TRAF3IP1c.1796C>G (p.Pro599Arg)
c.1598C>G (p.Pro533Arg)
n.807C>G
n.144C>G
c.1595C>G (p.Pro532Arg)
c.1898C>G (p.Pro633Arg)
c.1859C>G (p.Pro620Arg)
c.1826C>G (p.Pro609Arg)
c.1766C>G (p.Pro589Arg)
c.1700C>G (p.Pro567Arg)
c.764C>G (p.Pro255Arg)
c.1895C>G (p.Pro632Arg)
n.1624C>G
n.1621C>G
2g.238397565C>TCA351246198TRAF3IP1c.1796C>T (p.Pro599Leu)
c.1598C>T (p.Pro533Leu)
n.807C>T
n.144C>T
c.1595C>T (p.Pro532Leu)
c.1898C>T (p.Pro633Leu)
c.1859C>T (p.Pro620Leu)
c.1826C>T (p.Pro609Leu)
c.1766C>T (p.Pro589Leu)
c.1700C>T (p.Pro567Leu)
c.764C>T (p.Pro255Leu)
c.1895C>T (p.Pro632Leu)
n.1624C>T
n.1621C>T
gnomAD v4
2g.238397566C>ACA432228225TRAF3IP1c.1797C>A (p.Pro599=)
c.1599C>A (p.Pro533=)
n.808C>A
n.145C>A
c.1596C>A (p.Pro532=)
c.1899C>A (p.Pro633=)
c.1860C>A (p.Pro620=)
c.1827C>A (p.Pro609=)
c.1767C>A (p.Pro589=)
c.1701C>A (p.Pro567=)
c.765C>A (p.Pro255=)
c.1896C>A (p.Pro632=)
n.1625C>A
n.1622C>A
2g.238397566C=CA1338105463TRAF3IP1c.1797C= (p.Pro599=)
c.1599C= (p.Pro533=)
n.808C=
n.145C=
c.1596C= (p.Pro532=)
c.1899C= (p.Pro633=)
c.1860C= (p.Pro620=)
c.1827C= (p.Pro609=)
c.1767C= (p.Pro589=)
c.1701C= (p.Pro567=)
c.765C= (p.Pro255=)
c.1896C= (p.Pro632=)
n.1625C=
n.1622C=
2g.238397566C>GCA432228224TRAF3IP1c.1797C>G (p.Pro599=)
c.1599C>G (p.Pro533=)
n.808C>G
n.145C>G
c.1596C>G (p.Pro532=)
c.1899C>G (p.Pro633=)
c.1860C>G (p.Pro620=)
c.1827C>G (p.Pro609=)
c.1767C>G (p.Pro589=)
c.1701C>G (p.Pro567=)
c.765C>G (p.Pro255=)
c.1896C>G (p.Pro632=)
n.1625C>G
n.1622C>G
2g.238397566C>TCA432228226TRAF3IP1c.1797C>T (p.Pro599=)
c.1599C>T (p.Pro533=)
n.808C>T
n.145C>T
c.1596C>T (p.Pro532=)
c.1899C>T (p.Pro633=)
c.1860C>T (p.Pro620=)
c.1827C>T (p.Pro609=)
c.1767C>T (p.Pro589=)
c.1701C>T (p.Pro567=)
c.765C>T (p.Pro255=)
c.1896C>T (p.Pro632=)
n.1625C>T
n.1622C>T
dbSNP gnomAD v2 gnomAD v4
2g.238397567C>ACA351246210TRAF3IP1c.1798C>A (p.Leu600Met)
c.1600C>A (p.Leu534Met)
n.809C>A
n.146C>A
c.1597C>A (p.Leu533Met)
c.1900C>A (p.Leu634Met)
c.1861C>A (p.Leu621Met)
c.1828C>A (p.Leu610Met)
c.1768C>A (p.Leu590Met)
c.1702C>A (p.Leu568Met)
c.766C>A (p.Leu256Met)
c.1897C>A (p.Leu633Met)
n.1626C>A
n.1623C>A
2g.238397567C>GCA351246211TRAF3IP1c.1798C>G (p.Leu600Val)
c.1600C>G (p.Leu534Val)
n.809C>G
n.146C>G
c.1597C>G (p.Leu533Val)
c.1900C>G (p.Leu634Val)
c.1861C>G (p.Leu621Val)
c.1828C>G (p.Leu610Val)
c.1768C>G (p.Leu590Val)
c.1702C>G (p.Leu568Val)
c.766C>G (p.Leu256Val)
c.1897C>G (p.Leu633Val)
n.1626C>G
n.1623C>G
2g.238397567C>TCA432228233TRAF3IP1c.1798C>T (p.Leu600=)
c.1600C>T (p.Leu534=)
n.809C>T
n.146C>T
c.1597C>T (p.Leu533=)
c.1900C>T (p.Leu634=)
c.1861C>T (p.Leu621=)
c.1828C>T (p.Leu610=)
c.1768C>T (p.Leu590=)
c.1702C>T (p.Leu568=)
c.766C>T (p.Leu256=)
c.1897C>T (p.Leu633=)
n.1626C>T
n.1623C>T
2g.238397568T>ACA351246214TRAF3IP1c.1799T>A (p.Leu600Gln)
c.1601T>A (p.Leu534Gln)
n.810T>A
n.147T>A
c.1598T>A (p.Leu533Gln)
c.1901T>A (p.Leu634Gln)
c.1862T>A (p.Leu621Gln)
c.1829T>A (p.Leu610Gln)
c.1769T>A (p.Leu590Gln)
c.1703T>A (p.Leu568Gln)
c.767T>A (p.Leu256Gln)
c.1898T>A (p.Leu633Gln)
n.1627T>A
n.1624T>A
2g.238397568T>CCA351246218TRAF3IP1c.1799T>C (p.Leu600Pro)
c.1601T>C (p.Leu534Pro)
n.810T>C
n.147T>C
c.1598T>C (p.Leu533Pro)
c.1901T>C (p.Leu634Pro)
c.1862T>C (p.Leu621Pro)
c.1829T>C (p.Leu610Pro)
c.1769T>C (p.Leu590Pro)
c.1703T>C (p.Leu568Pro)
c.767T>C (p.Leu256Pro)
c.1898T>C (p.Leu633Pro)
n.1627T>C
n.1624T>C
2g.238397568T>GCA351246215TRAF3IP1c.1799T>G (p.Leu600Arg)
c.1601T>G (p.Leu534Arg)
n.810T>G
n.147T>G
c.1598T>G (p.Leu533Arg)
c.1901T>G (p.Leu634Arg)
c.1862T>G (p.Leu621Arg)
c.1829T>G (p.Leu610Arg)
c.1769T>G (p.Leu590Arg)
c.1703T>G (p.Leu568Arg)
c.767T>G (p.Leu256Arg)
c.1898T>G (p.Leu633Arg)
n.1627T>G
n.1624T>G
2g.238397569G>ACA2198582TRAF3IP1c.1800G>A (p.Leu600=)
c.1602G>A (p.Leu534=)
n.811G>A
n.148G>A
c.1599G>A (p.Leu533=)
c.1902G>A (p.Leu634=)
c.1863G>A (p.Leu621=)
c.1830G>A (p.Leu610=)
c.1770G>A (p.Leu590=)
c.1704G>A (p.Leu568=)
c.768G>A (p.Leu256=)
c.1899G>A (p.Leu633=)
n.1628G>A
n.1625G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238397569G>CCA432228238TRAF3IP1c.1800G>C (p.Leu600=)
c.1602G>C (p.Leu534=)
n.811G>C
n.148G>C
c.1599G>C (p.Leu533=)
c.1902G>C (p.Leu634=)
c.1863G>C (p.Leu621=)
c.1830G>C (p.Leu610=)
c.1770G>C (p.Leu590=)
c.1704G>C (p.Leu568=)
c.768G>C (p.Leu256=)
c.1899G>C (p.Leu633=)
n.1628G>C
n.1625G>C
2g.238397569G=CA1338105464TRAF3IP1c.1800G= (p.Leu600=)
c.1602G= (p.Leu534=)
n.811G=
n.148G=
c.1599G= (p.Leu533=)
c.1902G= (p.Leu634=)
c.1863G= (p.Leu621=)
c.1830G= (p.Leu610=)
c.1770G= (p.Leu590=)
c.1704G= (p.Leu568=)
c.768G= (p.Leu256=)
c.1899G= (p.Leu633=)
n.1628G=
n.1625G=
2g.238397569G>TCA432228240TRAF3IP1c.1800G>T (p.Leu600=)
c.1602G>T (p.Leu534=)
n.811G>T
n.148G>T
c.1599G>T (p.Leu533=)
c.1902G>T (p.Leu634=)
c.1863G>T (p.Leu621=)
c.1830G>T (p.Leu610=)
c.1770G>T (p.Leu590=)
c.1704G>T (p.Leu568=)
c.768G>T (p.Leu256=)
c.1899G>T (p.Leu633=)
n.1628G>T
n.1625G>T
2g.238397570G>ACA351246226TRAF3IP1c.1801G>A (p.Gly601Arg)
c.1603G>A (p.Gly535Arg)
n.812G>A
n.149G>A
c.1600G>A (p.Gly534Arg)
c.1903G>A (p.Gly635Arg)
c.1864G>A (p.Gly622Arg)
c.1831G>A (p.Gly611Arg)
c.1771G>A (p.Gly591Arg)
c.1705G>A (p.Gly569Arg)
c.769G>A (p.Gly257Arg)
c.1900G>A (p.Gly634Arg)
n.1629G>A
n.1626G>A
2g.238397570G>CCA351246229TRAF3IP1c.1801G>C (p.Gly601Arg)
c.1603G>C (p.Gly535Arg)
n.812G>C
n.149G>C
c.1600G>C (p.Gly534Arg)
c.1903G>C (p.Gly635Arg)
c.1864G>C (p.Gly622Arg)
c.1831G>C (p.Gly611Arg)
c.1771G>C (p.Gly591Arg)
c.1705G>C (p.Gly569Arg)
c.769G>C (p.Gly257Arg)
c.1900G>C (p.Gly634Arg)
n.1629G>C
n.1626G>C
2g.238397570G>TCA351246232TRAF3IP1c.1801G>T (p.Gly601Trp)
c.1603G>T (p.Gly535Trp)
n.812G>T
n.149G>T
c.1600G>T (p.Gly534Trp)
c.1903G>T (p.Gly635Trp)
c.1864G>T (p.Gly622Trp)
c.1831G>T (p.Gly611Trp)
c.1771G>T (p.Gly591Trp)
c.1705G>T (p.Gly569Trp)
c.769G>T (p.Gly257Trp)
c.1900G>T (p.Gly634Trp)
n.1629G>T
n.1626G>T
2g.238397571G>ACA351246234TRAF3IP1c.1802G>A (p.Gly601Glu)
c.1604G>A (p.Gly535Glu)
n.813G>A
n.150G>A
c.1601G>A (p.Gly534Glu)
c.1904G>A (p.Gly635Glu)
c.1865G>A (p.Gly622Glu)
c.1832G>A (p.Gly611Glu)
c.1772G>A (p.Gly591Glu)
c.1706G>A (p.Gly569Glu)
c.770G>A (p.Gly257Glu)
c.1901G>A (p.Gly634Glu)
n.1630G>A
n.1627G>A
2g.238397571G>CCA351246238TRAF3IP1c.1802G>C (p.Gly601Ala)
c.1604G>C (p.Gly535Ala)
n.813G>C
n.150G>C
c.1601G>C (p.Gly534Ala)
c.1904G>C (p.Gly635Ala)
c.1865G>C (p.Gly622Ala)
c.1832G>C (p.Gly611Ala)
c.1772G>C (p.Gly591Ala)
c.1706G>C (p.Gly569Ala)
c.770G>C (p.Gly257Ala)
c.1901G>C (p.Gly634Ala)
n.1630G>C
n.1627G>C
ClinVar
2g.238397571G>TCA351246241TRAF3IP1c.1802G>T (p.Gly601Val)
c.1604G>T (p.Gly535Val)
n.813G>T
n.150G>T
c.1601G>T (p.Gly534Val)
c.1904G>T (p.Gly635Val)
c.1865G>T (p.Gly622Val)
c.1832G>T (p.Gly611Val)
c.1772G>T (p.Gly591Val)
c.1706G>T (p.Gly569Val)
c.770G>T (p.Gly257Val)
c.1901G>T (p.Gly634Val)
n.1630G>T
n.1627G>T

Number of alleles fetched