Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50490415G>ACA490561870USP8c.2124G>A (p.Arg708=)
c.1806G>A (p.Arg602=)
n.541G>A
c.2037G>A (p.Arg679=)
c.1452G>A (p.Arg484=)
c.1554G>A (p.Arg518=)
dbSNP
15g.50490415G>CCA392399049USP8c.2124G>C (p.Arg708Ser)
c.1806G>C (p.Arg602Ser)
n.541G>C
c.2037G>C (p.Arg679Ser)
c.1452G>C (p.Arg484Ser)
c.1554G>C (p.Arg518Ser)
dbSNP
15g.50490415G=CA2176424906USP8c.2124G= (p.Arg708=)
c.1806G= (p.Arg602=)
n.541G=
c.2037G= (p.Arg679=)
c.1452G= (p.Arg484=)
c.1554G= (p.Arg518=)
15g.50490415G>TCA392399051USP8c.2124G>T (p.Arg708Ser)
c.1806G>T (p.Arg602Ser)
n.541G>T
c.2037G>T (p.Arg679Ser)
c.1452G>T (p.Arg484Ser)
c.1554G>T (p.Arg518Ser)
15g.50490416G>ACA392399053USP8c.2125G>A (p.Glu709Lys)
c.1807G>A (p.Glu603Lys)
n.542G>A
c.2038G>A (p.Glu680Lys)
c.1453G>A (p.Glu485Lys)
c.1555G>A (p.Glu519Lys)
dbSNP
15g.50490416G>CCA392399054USP8c.2125G>C (p.Glu709Gln)
c.1807G>C (p.Glu603Gln)
n.542G>C
c.2038G>C (p.Glu680Gln)
c.1453G>C (p.Glu485Gln)
c.1555G>C (p.Glu519Gln)
dbSNP
15g.50490416G=CA2176424907USP8c.2125G= (p.Glu709=)
c.1807G= (p.Glu603=)
n.542G=
c.2038G= (p.Glu680=)
c.1453G= (p.Glu485=)
c.1555G= (p.Glu519=)
15g.50490416G>TCA392399056USP8c.2125G>T (p.Glu709Ter)
c.1807G>T (p.Glu603Ter)
n.542G>T
c.2038G>T (p.Glu680Ter)
c.1453G>T (p.Glu485Ter)
c.1555G>T (p.Glu519Ter)
15g.50490417A>CCA392399058USP8c.2126A>C (p.Glu709Ala)
c.1808A>C (p.Glu603Ala)
n.543A>C
c.2039A>C (p.Glu680Ala)
c.1454A>C (p.Glu485Ala)
c.1556A>C (p.Glu519Ala)
15g.50490417A>GCA392399059USP8c.2126A>G (p.Glu709Gly)
c.1808A>G (p.Glu603Gly)
n.543A>G
c.2039A>G (p.Glu680Gly)
c.1454A>G (p.Glu485Gly)
c.1556A>G (p.Glu519Gly)
15g.50490417A>TCA392399061USP8c.2126A>T (p.Glu709Val)
c.1808A>T (p.Glu603Val)
n.543A>T
c.2039A>T (p.Glu680Val)
c.1454A>T (p.Glu485Val)
c.1556A>T (p.Glu519Val)
15g.50490418A>CCA392399063USP8c.2127A>C (p.Glu709Asp)
c.1809A>C (p.Glu603Asp)
n.544A>C
c.2040A>C (p.Glu680Asp)
c.1455A>C (p.Glu485Asp)
c.1557A>C (p.Glu519Asp)
15g.50490418A>GCA490561871USP8c.2127A>G (p.Glu709=)
c.1809A>G (p.Glu603=)
n.544A>G
c.2040A>G (p.Glu680=)
c.1455A>G (p.Glu485=)
c.1557A>G (p.Glu519=)
15g.50490418A>TCA392399064USP8c.2127A>T (p.Glu709Asp)
c.1809A>T (p.Glu603Asp)
n.544A>T
c.2040A>T (p.Glu680Asp)
c.1455A>T (p.Glu485Asp)
c.1557A>T (p.Glu519Asp)
15g.50490419C>ACA392399070USP8c.2128C>A (p.Pro710Thr)
c.1810C>A (p.Pro604Thr)
n.545C>A
c.2041C>A (p.Pro681Thr)
c.1456C>A (p.Pro486Thr)
c.1558C>A (p.Pro520Thr)
15g.50490419C=CA2176424908USP8c.2128C= (p.Pro710=)
c.1810C= (p.Pro604=)
n.545C=
c.2041C= (p.Pro681=)
c.1456C= (p.Pro486=)
c.1558C= (p.Pro520=)
15g.50490419C>GCA392399066USP8c.2128C>G (p.Pro710Ala)
c.1810C>G (p.Pro604Ala)
n.545C>G
c.2041C>G (p.Pro681Ala)
c.1456C>G (p.Pro486Ala)
c.1558C>G (p.Pro520Ala)
dbSNP gnomAD v3 gnomAD v4
15g.50490419C>TCA392399068USP8c.2128C>T (p.Pro710Ser)
c.1810C>T (p.Pro604Ser)
n.545C>T
c.2041C>T (p.Pro681Ser)
c.1456C>T (p.Pro486Ser)
c.1558C>T (p.Pro520Ser)
dbSNP
15g.50490420C>ACA392399072USP8c.2129C>A (p.Pro710His)
c.1811C>A (p.Pro604His)
n.546C>A
c.2042C>A (p.Pro681His)
c.1457C>A (p.Pro486His)
c.1559C>A (p.Pro520His)
15g.50490420C=CA2176424909USP8c.2129C= (p.Pro710=)
c.1811C= (p.Pro604=)
n.546C=
c.2042C= (p.Pro681=)
c.1457C= (p.Pro486=)
c.1559C= (p.Pro520=)
15g.50490420C>GCA392399073USP8c.2129C>G (p.Pro710Arg)
c.1811C>G (p.Pro604Arg)
n.546C>G
c.2042C>G (p.Pro681Arg)
c.1457C>G (p.Pro486Arg)
c.1559C>G (p.Pro520Arg)
gnomAD v4
15g.50490420C>TCA392399074USP8c.2129C>T (p.Pro710Leu)
c.1811C>T (p.Pro604Leu)
n.546C>T
c.2042C>T (p.Pro681Leu)
c.1457C>T (p.Pro486Leu)
c.1559C>T (p.Pro520Leu)
dbSNP gnomAD v4
15g.50490421T>ACA490561872USP8c.2130T>A (p.Pro710=)
c.1812T>A (p.Pro604=)
n.547T>A
c.2043T>A (p.Pro681=)
c.1458T>A (p.Pro486=)
c.1560T>A (p.Pro520=)
15g.50490421T>CCA490561873USP8c.2130T>C (p.Pro710=)
c.1812T>C (p.Pro604=)
n.547T>C
c.2043T>C (p.Pro681=)
c.1458T>C (p.Pro486=)
c.1560T>C (p.Pro520=)
15g.50490421T>GCA490561874USP8c.2130T>G (p.Pro710=)
c.1812T>G (p.Pro604=)
n.547T>G
c.2043T>G (p.Pro681=)
c.1458T>G (p.Pro486=)
c.1560T>G (p.Pro520=)
gnomAD v3 gnomAD v4
15g.50490422T>ACA392399077USP8c.2131T>A (p.Ser711Thr)
c.1813T>A (p.Ser605Thr)
n.548T>A
c.2044T>A (p.Ser682Thr)
c.1459T>A (p.Ser487Thr)
c.1561T>A (p.Ser521Thr)
15g.50490422T>CCA392399078USP8c.2131T>C (p.Ser711Pro)
c.1813T>C (p.Ser605Pro)
n.548T>C
c.2044T>C (p.Ser682Pro)
c.1459T>C (p.Ser487Pro)
c.1561T>C (p.Ser521Pro)
15g.50490422T>GCA392399080USP8c.2131T>G (p.Ser711Ala)
c.1813T>G (p.Ser605Ala)
n.548T>G
c.2044T>G (p.Ser682Ala)
c.1459T>G (p.Ser487Ala)
c.1561T>G (p.Ser521Ala)
15g.50490423C>ACA392399082USP8c.2132C>A (p.Ser711Tyr)
c.1814C>A (p.Ser605Tyr)
n.549C>A
c.2045C>A (p.Ser682Tyr)
c.1460C>A (p.Ser487Tyr)
c.1562C>A (p.Ser521Tyr)
dbSNP
15g.50490423C>GCA392399083USP8c.2132C>G (p.Ser711Cys)
c.1814C>G (p.Ser605Cys)
n.549C>G
c.2045C>G (p.Ser682Cys)
c.1460C>G (p.Ser487Cys)
c.1562C>G (p.Ser521Cys)
15g.50490423C>TCA392399084USP8c.2132C>T (p.Ser711Phe)
c.1814C>T (p.Ser605Phe)
n.549C>T
c.2045C>T (p.Ser682Phe)
c.1460C>T (p.Ser487Phe)
c.1562C>T (p.Ser521Phe)
gnomAD v4
15g.50490424C>ACA490561875USP8c.2133C>A (p.Ser711=)
c.1815C>A (p.Ser605=)
n.550C>A
c.2046C>A (p.Ser682=)
c.1461C>A (p.Ser487=)
c.1563C>A (p.Ser521=)
15g.50490424C>GCA490561876USP8c.2133C>G (p.Ser711=)
c.1815C>G (p.Ser605=)
n.550C>G
c.2046C>G (p.Ser682=)
c.1461C>G (p.Ser487=)
c.1563C>G (p.Ser521=)
15g.50490424C>TCA490561877USP8c.2133C>T (p.Ser711=)
c.1815C>T (p.Ser605=)
n.550C>T
c.2046C>T (p.Ser682=)
c.1461C>T (p.Ser487=)
c.1563C>T (p.Ser521=)
15g.50490425A>CCA392399085USP8c.2134A>C (p.Lys712Gln)
c.1816A>C (p.Lys606Gln)
n.551A>C
c.2047A>C (p.Lys683Gln)
c.1462A>C (p.Lys488Gln)
c.1564A>C (p.Lys522Gln)
15g.50490425A>GCA392399086USP8c.2134A>G (p.Lys712Glu)
c.1816A>G (p.Lys606Glu)
n.551A>G
c.2047A>G (p.Lys683Glu)
c.1462A>G (p.Lys488Glu)
c.1564A>G (p.Lys522Glu)
15g.50490425A>TCA392399087USP8c.2134A>T (p.Lys712Ter)
c.1816A>T (p.Lys606Ter)
n.551A>T
c.2047A>T (p.Lys683Ter)
c.1462A>T (p.Lys488Ter)
c.1564A>T (p.Lys522Ter)
15g.50490426A>CCA392399090USP8c.2135A>C (p.Lys712Thr)
c.1817A>C (p.Lys606Thr)
n.552A>C
c.2048A>C (p.Lys683Thr)
c.1463A>C (p.Lys488Thr)
c.1565A>C (p.Lys522Thr)
15g.50490426A>GCA392399089USP8c.2135A>G (p.Lys712Arg)
c.1817A>G (p.Lys606Arg)
n.552A>G
c.2048A>G (p.Lys683Arg)
c.1463A>G (p.Lys488Arg)
c.1565A>G (p.Lys522Arg)
15g.50490426A>TCA392399088USP8c.2135A>T (p.Lys712Ile)
c.1817A>T (p.Lys606Ile)
n.552A>T
c.2048A>T (p.Lys683Ile)
c.1463A>T (p.Lys488Ile)
c.1565A>T (p.Lys522Ile)
15g.50490427A>CCA392399091USP8c.2136A>C (p.Lys712Asn)
c.1818A>C (p.Lys606Asn)
n.553A>C
c.2049A>C (p.Lys683Asn)
c.1464A>C (p.Lys488Asn)
c.1566A>C (p.Lys522Asn)
15g.50490427A>GCA490561878USP8c.2136A>G (p.Lys712=)
c.1818A>G (p.Lys606=)
n.553A>G
c.2049A>G (p.Lys683=)
c.1464A>G (p.Lys488=)
c.1566A>G (p.Lys522=)
15g.50490427A>TCA392399092USP8c.2136A>T (p.Lys712Asn)
c.1818A>T (p.Lys606Asn)
n.553A>T
c.2049A>T (p.Lys683Asn)
c.1464A>T (p.Lys488Asn)
c.1566A>T (p.Lys522Asn)
15g.50490428C>ACA392399093USP8c.2137C>A (p.Leu713Met)
c.1819C>A (p.Leu607Met)
n.554C>A
c.2050C>A (p.Leu684Met)
c.1465C>A (p.Leu489Met)
c.1567C>A (p.Leu523Met)
15g.50490428C=CA2176424910USP8c.2137C= (p.Leu713=)
c.1819C= (p.Leu607=)
n.554C=
c.2050C= (p.Leu684=)
c.1465C= (p.Leu489=)
c.1567C= (p.Leu523=)
15g.50490428C>GCA392399094USP8c.2137C>G (p.Leu713Val)
c.1819C>G (p.Leu607Val)
n.554C>G
c.2050C>G (p.Leu684Val)
c.1465C>G (p.Leu489Val)
c.1567C>G (p.Leu523Val)
15g.50490428C>TCA7555898USP8c.2137C>T (p.Leu713=)
c.1819C>T (p.Leu607=)
n.554C>T
c.2050C>T (p.Leu684=)
c.1465C>T (p.Leu489=)
c.1567C>T (p.Leu523=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490429T>ACA392399095USP8c.2138T>A (p.Leu713Gln)
c.1820T>A (p.Leu607Gln)
n.555T>A
c.2051T>A (p.Leu684Gln)
c.1466T>A (p.Leu489Gln)
c.1568T>A (p.Leu523Gln)
15g.50490429T>CCA392399096USP8c.2138T>C (p.Leu713Pro)
c.1820T>C (p.Leu607Pro)
n.555T>C
c.2051T>C (p.Leu684Pro)
c.1466T>C (p.Leu489Pro)
c.1568T>C (p.Leu523Pro)
15g.50490429T>GCA048717USP8c.2138T>G (p.Leu713Arg)
c.1820T>G (p.Leu607Arg)
n.555T>G
c.2051T>G (p.Leu684Arg)
c.1466T>G (p.Leu489Arg)
c.1568T>G (p.Leu523Arg)
dbSNP COSMIC
15g.[50490429T>G;50490441A>G]CA049040USP8c.[2138T>G;2150A>G] (p.[Leu713Arg;Tyr717Cys])
c.[1820T>G;1832A>G] (p.[Leu607Arg;Tyr611Cys])
c.[2051T>G;2063A>G] (p.[Leu684Arg;Tyr688Cys])
c.[1466T>G;1478A>G] (p.[Leu489Arg;Tyr493Cys])
c.[1568T>G;1580A>G] (p.[Leu523Arg;Tyr527Cys])
15g.50490429T=CA2176424911USP8c.2138T= (p.Leu713=)
c.1820T= (p.Leu607=)
n.555T=
c.2051T= (p.Leu684=)
c.1466T= (p.Leu489=)
c.1568T= (p.Leu523=)
15g.50490430G>ACA490561879USP8c.2139G>A (p.Leu713=)
c.1821G>A (p.Leu607=)
n.556G>A
c.2052G>A (p.Leu684=)
c.1467G>A (p.Leu489=)
c.1569G>A (p.Leu523=)
15g.50490430G>CCA490561880USP8c.2139G>C (p.Leu713=)
c.1821G>C (p.Leu607=)
n.556G>C
c.2052G>C (p.Leu684=)
c.1467G>C (p.Leu489=)
c.1569G>C (p.Leu523=)
15g.50490430G>TCA490561881USP8c.2139G>T (p.Leu713=)
c.1821G>T (p.Leu607=)
n.556G>T
c.2052G>T (p.Leu684=)
c.1467G>T (p.Leu489=)
c.1569G>T (p.Leu523=)
15g.50490431A>CCA392399097USP8c.2140A>C (p.Lys714Gln)
c.1822A>C (p.Lys608Gln)
c.2053A>C (p.Lys685Gln)
c.1468A>C (p.Lys490Gln)
c.1570A>C (p.Lys524Gln)
15g.50490431A>GCA392399098USP8c.2140A>G (p.Lys714Glu)
c.1822A>G (p.Lys608Glu)
c.2053A>G (p.Lys685Glu)
c.1468A>G (p.Lys490Glu)
c.1570A>G (p.Lys524Glu)
15g.50490431A>TCA392399099USP8c.2140A>T (p.Lys714Ter)
c.1822A>T (p.Lys608Ter)
c.2053A>T (p.Lys685Ter)
c.1468A>T (p.Lys490Ter)
c.1570A>T (p.Lys524Ter)
15g.50490432A=CA2176424912USP8c.2141A= (p.Lys714=)
c.1823A= (p.Lys608=)
c.2054A= (p.Lys685=)
c.1469A= (p.Lys490=)
c.1571A= (p.Lys524=)
15g.50490432A>CCA392399100USP8c.2141A>C (p.Lys714Thr)
c.1823A>C (p.Lys608Thr)
c.2054A>C (p.Lys685Thr)
c.1469A>C (p.Lys490Thr)
c.1571A>C (p.Lys524Thr)
dbSNP gnomAD v4
15g.50490432A>GCA392399101USP8c.2141A>G (p.Lys714Arg)
c.1823A>G (p.Lys608Arg)
c.2054A>G (p.Lys685Arg)
c.1469A>G (p.Lys490Arg)
c.1571A>G (p.Lys524Arg)
dbSNP
15g.50490432A>TCA392399102USP8c.2141A>T (p.Lys714Met)
c.1823A>T (p.Lys608Met)
c.2054A>T (p.Lys685Met)
c.1469A>T (p.Lys490Met)
c.1571A>T (p.Lys524Met)
dbSNP gnomAD v4
15g.50490433G>ACA490561882USP8c.2142G>A (p.Lys714=)
c.1824G>A (p.Lys608=)
c.2055G>A (p.Lys685=)
c.1470G>A (p.Lys490=)
c.1572G>A (p.Lys524=)
15g.50490433G>CCA392399105USP8c.2142G>C (p.Lys714Asn)
c.1824G>C (p.Lys608Asn)
c.2055G>C (p.Lys685Asn)
c.1470G>C (p.Lys490Asn)
c.1572G>C (p.Lys524Asn)
15g.50490433G>TCA392399103USP8c.2142G>T (p.Lys714Asn)
c.1824G>T (p.Lys608Asn)
c.2055G>T (p.Lys685Asn)
c.1470G>T (p.Lys490Asn)
c.1572G>T (p.Lys524Asn)
15g.50490434C>ACA392399106USP8c.2143C>A (p.Arg715Ser)
c.1825C>A (p.Arg609Ser)
c.2056C>A (p.Arg686Ser)
c.1471C>A (p.Arg491Ser)
c.1573C>A (p.Arg525Ser)
15g.50490434C>GCA392399107USP8c.2143C>G (p.Arg715Gly)
c.1825C>G (p.Arg609Gly)
c.2056C>G (p.Arg686Gly)
c.1471C>G (p.Arg491Gly)
c.1573C>G (p.Arg525Gly)
15g.50490434C>TCA392399109USP8c.2143C>T (p.Arg715Cys)
c.1825C>T (p.Arg609Cys)
c.2056C>T (p.Arg686Cys)
c.1471C>T (p.Arg491Cys)
c.1573C>T (p.Arg525Cys)
dbSNP gnomAD v4 COSMIC
15g.50490435G>ACA7555899USP8c.2144G>A (p.Arg715His)
c.1826G>A (p.Arg609His)
c.2057G>A (p.Arg686His)
c.1472G>A (p.Arg491His)
c.1574G>A (p.Arg525His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50490435G>CCA392399111USP8c.2144G>C (p.Arg715Pro)
c.1826G>C (p.Arg609Pro)
c.2057G>C (p.Arg686Pro)
c.1472G>C (p.Arg491Pro)
c.1574G>C (p.Arg525Pro)
15g.50490435G=CA2176424913USP8c.2144G= (p.Arg715=)
c.1826G= (p.Arg609=)
c.2057G= (p.Arg686=)
c.1472G= (p.Arg491=)
c.1574G= (p.Arg525=)
15g.50490435G>TCA392399112USP8c.2144G>T (p.Arg715Leu)
c.1826G>T (p.Arg609Leu)
c.2057G>T (p.Arg686Leu)
c.1472G>T (p.Arg491Leu)
c.1574G>T (p.Arg525Leu)
15g.50490436C>ACA490561883USP8c.2145C>A (p.Arg715=)
c.1827C>A (p.Arg609=)
c.2058C>A (p.Arg686=)
c.1473C>A (p.Arg491=)
c.1575C>A (p.Arg525=)
15g.50490436C>GCA490561885USP8c.2145C>G (p.Arg715=)
c.1827C>G (p.Arg609=)
c.2058C>G (p.Arg686=)
c.1473C>G (p.Arg491=)
c.1575C>G (p.Arg525=)
15g.50490436C>TCA490561884USP8c.2145C>T (p.Arg715=)
c.1827C>T (p.Arg609=)
c.2058C>T (p.Arg686=)
c.1473C>T (p.Arg491=)
c.1575C>T (p.Arg525=)
gnomAD v4
15g.50490437T>ACA392399114USP8c.2146T>A (p.Ser716Thr)
c.1828T>A (p.Ser610Thr)
c.2059T>A (p.Ser687Thr)
c.1474T>A (p.Ser492Thr)
c.1576T>A (p.Ser526Thr)
15g.50490437T>CCA392399115USP8c.2146T>C (p.Ser716Pro)
c.1828T>C (p.Ser610Pro)
c.2059T>C (p.Ser687Pro)
c.1474T>C (p.Ser492Pro)
c.1576T>C (p.Ser526Pro)
gnomAD v4
15g.50490437T>GCA392399117USP8c.2146T>G (p.Ser716Ala)
c.1828T>G (p.Ser610Ala)
c.2059T>G (p.Ser687Ala)
c.1474T>G (p.Ser492Ala)
c.1576T>G (p.Ser526Ala)
15g.50490438C>ACA392399119USP8c.2147C>A (p.Ser716Tyr)
c.1829C>A (p.Ser610Tyr)
c.2060C>A (p.Ser687Tyr)
c.1475C>A (p.Ser492Tyr)
c.1577C>A (p.Ser526Tyr)
15g.50490438C=CA2176424914USP8c.2147C= (p.Ser716=)
c.1829C= (p.Ser610=)
c.2060C= (p.Ser687=)
c.1475C= (p.Ser492=)
c.1577C= (p.Ser526=)
15g.50490438C>GCA392399121USP8c.2147C>G (p.Ser716Cys)
c.1829C>G (p.Ser610Cys)
c.2060C>G (p.Ser687Cys)
c.1475C>G (p.Ser492Cys)
c.1577C>G (p.Ser526Cys)
15g.50490438C>TCA7555900USP8c.2147C>T (p.Ser716Phe)
c.1829C>T (p.Ser610Phe)
c.2060C>T (p.Ser687Phe)
c.1475C>T (p.Ser492Phe)
c.1577C>T (p.Ser526Phe)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.50490439C>ACA490561886USP8c.2148C>A (p.Ser716=)
c.1830C>A (p.Ser610=)
c.2061C>A (p.Ser687=)
c.1476C>A (p.Ser492=)
c.1578C>A (p.Ser526=)
15g.50490439C>GCA490561887USP8c.2148C>G (p.Ser716=)
c.1830C>G (p.Ser610=)
c.2061C>G (p.Ser687=)
c.1476C>G (p.Ser492=)
c.1578C>G (p.Ser526=)
15g.50490439C>TCA490561888USP8c.2148C>T (p.Ser716=)
c.1830C>T (p.Ser610=)
c.2061C>T (p.Ser687=)
c.1476C>T (p.Ser492=)
c.1578C>T (p.Ser526=)
15g.50490440T>ACA392399125USP8c.2149T>A (p.Tyr717Asn)
c.1831T>A (p.Tyr611Asn)
c.2062T>A (p.Tyr688Asn)
c.1477T>A (p.Tyr493Asn)
c.1579T>A (p.Tyr527Asn)
15g.50490440T>CCA392399126USP8c.2149T>C (p.Tyr717His)
c.1831T>C (p.Tyr611His)
c.2062T>C (p.Tyr688His)
c.1477T>C (p.Tyr493His)
c.1579T>C (p.Tyr527His)
gnomAD v4
15g.50490440T>GCA392399124USP8c.2149T>G (p.Tyr717Asp)
c.1831T>G (p.Tyr611Asp)
c.2062T>G (p.Tyr688Asp)
c.1477T>G (p.Tyr493Asp)
c.1579T>G (p.Tyr527Asp)
15g.50490441A=CA2176424916USP8c.2150A= (p.Tyr717=)
c.1832A= (p.Tyr611=)
c.2063A= (p.Tyr688=)
c.1478A= (p.Tyr493=)
c.1580A= (p.Tyr527=)
15g.50490441A>CCA392399128USP8c.2150A>C (p.Tyr717Ser)
c.1832A>C (p.Tyr611Ser)
c.2063A>C (p.Tyr688Ser)
c.1478A>C (p.Tyr493Ser)
c.1580A>C (p.Tyr527Ser)
15g.50490441A>GCA049021USP8c.2150A>G (p.Tyr717Cys)
c.1832A>G (p.Tyr611Cys)
c.2063A>G (p.Tyr688Cys)
c.1478A>G (p.Tyr493Cys)
c.1580A>G (p.Tyr527Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50490441A>TCA7555901USP8c.2150A>T (p.Tyr717Phe)
c.1832A>T (p.Tyr611Phe)
c.2063A>T (p.Tyr688Phe)
c.1478A>T (p.Tyr493Phe)
c.1580A>T (p.Tyr527Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490441_50490444delinsACTCCA2176424915USP8c.2150_2153delinsACTC (p.Tyr717=)
c.1832_1835delinsACTC (p.Tyr611=)
c.2063_2066delinsACTC (p.Tyr688=)
c.1478_1481delinsACTC (p.Tyr493=)
c.1580_1583delinsACTC (p.Tyr527=)
15g.50490442C>ACA392399131USP8c.2151C>A (p.Tyr717Ter)
c.1833C>A (p.Tyr611Ter)
c.2064C>A (p.Tyr688Ter)
c.1479C>A (p.Tyr493Ter)
c.1581C>A (p.Tyr527Ter)
15g.50490442C>GCA392399133USP8c.2151C>G (p.Tyr717Ter)
c.1833C>G (p.Tyr611Ter)
c.2064C>G (p.Tyr688Ter)
c.1479C>G (p.Tyr493Ter)
c.1581C>G (p.Tyr527Ter)
15g.50490442C>TCA490561889USP8c.2151C>T (p.Tyr717=)
c.1833C>T (p.Tyr611=)
c.2064C>T (p.Tyr688=)
c.1479C>T (p.Tyr493=)
c.1581C>T (p.Tyr527=)
dbSNP
15g.50490446_50490448delCA174935USP8c.2155_2157del (p.Ser719del)
c.1837_1839del (p.Ser613del)
c.2068_2070del (p.Ser690del)
c.1483_1485del (p.Ser495del)
c.1585_1587del (p.Ser529del)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.50490443T>ACA392399135USP8c.2152T>A (p.Ser718Thr)
c.1834T>A (p.Ser612Thr)
c.2065T>A (p.Ser689Thr)
c.1480T>A (p.Ser494Thr)
c.1582T>A (p.Ser528Thr)
15g.50490443T>CCA174937USP8c.2152T>C (p.Ser718Pro)
c.1834T>C (p.Ser612Pro)
c.2065T>C (p.Ser689Pro)
c.1480T>C (p.Ser494Pro)
c.1582T>C (p.Ser528Pro)
ClinVar dbSNP gnomAD v4 COSMIC
15g.50490443T>GCA392399137USP8c.2152T>G (p.Ser718Ala)
c.1834T>G (p.Ser612Ala)
c.2065T>G (p.Ser689Ala)
c.1480T>G (p.Ser494Ala)
c.1582T>G (p.Ser528Ala)
15g.50490443T=CA2176424917USP8c.2152T= (p.Ser718=)
c.1834T= (p.Ser612=)
c.2065T= (p.Ser689=)
c.1480T= (p.Ser494=)
c.1582T= (p.Ser528=)
15g.50490443_50490449delinsACA645580776USP8c.2152_2158delinsA (p.Ser718_Pro720delinsThr)
c.1834_1840delinsA (p.Ser612_Pro614delinsThr)
c.2065_2071delinsA (p.Ser689_Pro691delinsThr)
c.1480_1486delinsA (p.Ser494_Pro496delinsThr)
c.1582_1588delinsA (p.Ser528_Pro530delinsThr)
COSMIC
15g.50490444C>ACA392399139USP8c.2153C>A (p.Ser718Tyr)
c.1835C>A (p.Ser612Tyr)
c.2066C>A (p.Ser689Tyr)
c.1481C>A (p.Ser494Tyr)
c.1583C>A (p.Ser528Tyr)
15g.50490444C=CA2176424918USP8c.2153C= (p.Ser718=)
c.1835C= (p.Ser612=)
c.2066C= (p.Ser689=)
c.1481C= (p.Ser494=)
c.1583C= (p.Ser528=)
15g.50490444C>GCA174939USP8c.2153C>G (p.Ser718Cys)
c.1835C>G (p.Ser612Cys)
c.2066C>G (p.Ser689Cys)
c.1481C>G (p.Ser494Cys)
c.1583C>G (p.Ser528Cys)
ClinVar dbSNP COSMIC
15g.50490444C>TCA392399141USP8c.2153C>T (p.Ser718Phe)
c.1835C>T (p.Ser612Phe)
c.2066C>T (p.Ser689Phe)
c.1481C>T (p.Ser494Phe)
c.1583C>T (p.Ser528Phe)
dbSNP COSMIC
15g.50490445_50490450delCA645580777USP8c.2154_2159del (p.Ser719_Pro720del)
c.1836_1841del (p.Ser613_Pro614del)
c.2067_2072del (p.Ser690_Pro691del)
c.1482_1487del (p.Ser495_Pro496del)
c.1584_1589del (p.Ser529_Pro530del)
COSMIC
15g.50490446_50490460delCA645580778USP8c.2155_2169del (p.Ser719_Thr723del)
c.1837_1851del (p.Ser613_Thr617del)
c.2068_2082del (p.Ser690_Thr694del)
c.1483_1497del (p.Ser495_Thr499del)
c.1585_1599del (p.Ser529_Thr533del)
COSMIC
15g.50490445C>ACA490561890USP8c.2154C>A (p.Ser718=)
c.1836C>A (p.Ser612=)
c.2067C>A (p.Ser689=)
c.1482C>A (p.Ser494=)
c.1584C>A (p.Ser528=)
15g.50490445C=CA2176424919USP8c.2154C= (p.Ser718=)
c.1836C= (p.Ser612=)
c.2067C= (p.Ser689=)
c.1482C= (p.Ser494=)
c.1584C= (p.Ser528=)
15g.50490445C>GCA490561891USP8c.2154C>G (p.Ser718=)
c.1836C>G (p.Ser612=)
c.2067C>G (p.Ser689=)
c.1482C>G (p.Ser494=)
c.1584C>G (p.Ser528=)
15g.50490445C>TCA490561892USP8c.2154C>T (p.Ser718=)
c.1836C>T (p.Ser612=)
c.2067C>T (p.Ser689=)
c.1482C>T (p.Ser494=)
c.1584C>T (p.Ser528=)
dbSNP gnomAD v2 gnomAD v4
15g.50490445_50490462delCA645580779USP8c.2154_2171del (p.Ser719_Gln724del)
c.1836_1853del (p.Ser613_Gln618del)
c.2067_2084del (p.Ser690_Gln695del)
c.1482_1499del (p.Ser495_Gln500del)
c.1584_1601del (p.Ser529_Gln534del)
COSMIC
15g.50490446T>ACA7555902USP8c.2155T>A (p.Ser719Thr)
c.1837T>A (p.Ser613Thr)
c.2068T>A (p.Ser690Thr)
c.1483T>A (p.Ser495Thr)
c.1585T>A (p.Ser529Thr)
dbSNP ExAC gnomAD v4
15g.50490446T>CCA392399144USP8c.2155T>C (p.Ser719Pro)
c.1837T>C (p.Ser613Pro)
c.2068T>C (p.Ser690Pro)
c.1483T>C (p.Ser495Pro)
c.1585T>C (p.Ser529Pro)
dbSNP COSMIC
15g.50490446T>GCA392399146USP8c.2155T>G (p.Ser719Ala)
c.1837T>G (p.Ser613Ala)
c.2068T>G (p.Ser690Ala)
c.1483T>G (p.Ser495Ala)
c.1585T>G (p.Ser529Ala)
dbSNP gnomAD v2 gnomAD v4
15g.50490446T=CA2176424920USP8c.2155T= (p.Ser719=)
c.1837T= (p.Ser613=)
c.2068T= (p.Ser690=)
c.1483T= (p.Ser495=)
c.1585T= (p.Ser529=)
15g.50490447C>ACA392399151USP8c.2156C>A (p.Ser719Tyr)
c.1838C>A (p.Ser613Tyr)
c.2069C>A (p.Ser690Tyr)
c.1484C>A (p.Ser495Tyr)
c.1586C>A (p.Ser529Tyr)
15g.50490447C>GCA392399150USP8c.2156C>G (p.Ser719Cys)
c.1838C>G (p.Ser613Cys)
c.2069C>G (p.Ser690Cys)
c.1484C>G (p.Ser495Cys)
c.1586C>G (p.Ser529Cys)
gnomAD v4
15g.50490447C>TCA392399148USP8c.2156C>T (p.Ser719Phe)
c.1838C>T (p.Ser613Phe)
c.2069C>T (p.Ser690Phe)
c.1484C>T (p.Ser495Phe)
c.1586C>T (p.Ser529Phe)
gnomAD v4
15g.50490448C>ACA490561893USP8c.2157C>A (p.Ser719=)
c.1839C>A (p.Ser613=)
c.2070C>A (p.Ser690=)
c.1485C>A (p.Ser495=)
c.1587C>A (p.Ser529=)
dbSNP gnomAD v2
15g.50490448C=CA2176424921USP8c.2157C= (p.Ser719=)
c.1839C= (p.Ser613=)
c.2070C= (p.Ser690=)
c.1485C= (p.Ser495=)
c.1587C= (p.Ser529=)
15g.50490448C>GCA490561894USP8c.2157C>G (p.Ser719=)
c.1839C>G (p.Ser613=)
c.2070C>G (p.Ser690=)
c.1485C>G (p.Ser495=)
c.1587C>G (p.Ser529=)
15g.50490448C>TCA490561895USP8c.2157C>T (p.Ser719=)
c.1839C>T (p.Ser613=)
c.2070C>T (p.Ser690=)
c.1485C>T (p.Ser495=)
c.1587C>T (p.Ser529=)
dbSNP
15g.50490448_50490453delCA645580781USP8c.2157_2162del (p.Pro720_Asp721del)
c.1839_1844del (p.Pro614_Asp615del)
c.2070_2075del (p.Pro691_Asp692del)
c.1485_1490del (p.Pro496_Asp497del)
c.1587_1592del (p.Pro530_Asp531del)
COSMIC
15g.50490448_50490454delinsGCA645580780USP8c.2157_2163delinsG (p.Pro720_Asp721del)
c.1839_1845delinsG (p.Pro614_Asp615del)
c.2070_2076delinsG (p.Pro691_Asp692del)
c.1485_1491delinsG (p.Pro496_Asp497del)
c.1587_1593delinsG (p.Pro530_Asp531del)
COSMIC
15g.50490449C>ACA392399154USP8c.2158C>A (p.Pro720Thr)
c.1840C>A (p.Pro614Thr)
c.2071C>A (p.Pro691Thr)
c.1486C>A (p.Pro496Thr)
c.1588C>A (p.Pro530Thr)
dbSNP
15g.50490449C=CA2176424922USP8c.2158C= (p.Pro720=)
c.1840C= (p.Pro614=)
c.2071C= (p.Pro691=)
c.1486C= (p.Pro496=)
c.1588C= (p.Pro530=)
15g.50490449C>GCA392399155USP8c.2158C>G (p.Pro720Ala)
c.1840C>G (p.Pro614Ala)
c.2071C>G (p.Pro691Ala)
c.1486C>G (p.Pro496Ala)
c.1588C>G (p.Pro530Ala)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.50490449C>TCA392399156USP8c.2158C>T (p.Pro720Ser)
c.1840C>T (p.Pro614Ser)
c.2071C>T (p.Pro691Ser)
c.1486C>T (p.Pro496Ser)
c.1588C>T (p.Pro530Ser)
15g.50490450C>ACA392399157USP8c.2159C>A (p.Pro720Gln)
c.1841C>A (p.Pro614Gln)
c.2072C>A (p.Pro691Gln)
c.1487C>A (p.Pro496Gln)
c.1589C>A (p.Pro530Gln)
COSMIC
15g.50490450C=CA2176424923USP8c.2159C= (p.Pro720=)
c.1841C= (p.Pro614=)
c.2072C= (p.Pro691=)
c.1487C= (p.Pro496=)
c.1589C= (p.Pro530=)
15g.50490450C>GCA174941USP8c.2159C>G (p.Pro720Arg)
c.1841C>G (p.Pro614Arg)
c.2072C>G (p.Pro691Arg)
c.1487C>G (p.Pro496Arg)
c.1589C>G (p.Pro530Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.50490450C>TCA392399160USP8c.2159C>T (p.Pro720Leu)
c.1841C>T (p.Pro614Leu)
c.2072C>T (p.Pro691Leu)
c.1487C>T (p.Pro496Leu)
c.1589C>T (p.Pro530Leu)
dbSNP gnomAD v4 COSMIC
15g.50490451A>CCA490561896USP8c.2160A>C (p.Pro720=)
c.1842A>C (p.Pro614=)
c.2073A>C (p.Pro691=)
c.1488A>C (p.Pro496=)
c.1590A>C (p.Pro530=)
15g.50490451A>GCA490561897USP8c.2160A>G (p.Pro720=)
c.1842A>G (p.Pro614=)
c.2073A>G (p.Pro691=)
c.1488A>G (p.Pro496=)
c.1590A>G (p.Pro530=)
gnomAD v4
15g.50490451A>TCA490561898USP8c.2160A>T (p.Pro720=)
c.1842A>T (p.Pro614=)
c.2073A>T (p.Pro691=)
c.1488A>T (p.Pro496=)
c.1590A>T (p.Pro530=)
15g.50490452G>ACA392399162USP8c.2161G>A (p.Asp721Asn)
c.1843G>A (p.Asp615Asn)
c.2074G>A (p.Asp692Asn)
c.1489G>A (p.Asp497Asn)
c.1591G>A (p.Asp531Asn)
15g.50490452G>CCA392399164USP8c.2161G>C (p.Asp721His)
c.1843G>C (p.Asp615His)
c.2074G>C (p.Asp692His)
c.1489G>C (p.Asp497His)
c.1591G>C (p.Asp531His)
dbSNP gnomAD v2 gnomAD v4
15g.50490452G=CA2176424924USP8c.2161G= (p.Asp721=)
c.1843G= (p.Asp615=)
c.2074G= (p.Asp692=)
c.1489G= (p.Asp497=)
c.1591G= (p.Asp531=)
15g.50490452G>TCA392399166USP8c.2161G>T (p.Asp721Tyr)
c.1843G>T (p.Asp615Tyr)
c.2074G>T (p.Asp692Tyr)
c.1489G>T (p.Asp497Tyr)
c.1591G>T (p.Asp531Tyr)
15g.50490453A>CCA392399168USP8c.2162A>C (p.Asp721Ala)
c.1844A>C (p.Asp615Ala)
c.2075A>C (p.Asp692Ala)
c.1490A>C (p.Asp497Ala)
c.1592A>C (p.Asp531Ala)
15g.50490453A>GCA392399170USP8c.2162A>G (p.Asp721Gly)
c.1844A>G (p.Asp615Gly)
c.2075A>G (p.Asp692Gly)
c.1490A>G (p.Asp497Gly)
c.1592A>G (p.Asp531Gly)
gnomAD v4
15g.50490453A>TCA392399172USP8c.2162A>T (p.Asp721Val)
c.1844A>T (p.Asp615Val)
c.2075A>T (p.Asp692Val)
c.1490A>T (p.Asp497Val)
c.1592A>T (p.Asp531Val)
15g.50490454T>ACA392399173USP8c.2163T>A (p.Asp721Glu)
c.1845T>A (p.Asp615Glu)
c.2076T>A (p.Asp692Glu)
c.1491T>A (p.Asp497Glu)
c.1593T>A (p.Asp531Glu)
15g.50490454T>CCA490561899USP8c.2163T>C (p.Asp721=)
c.1845T>C (p.Asp615=)
c.2076T>C (p.Asp692=)
c.1491T>C (p.Asp497=)
c.1593T>C (p.Asp531=)
15g.50490454T>GCA392399175USP8c.2163T>G (p.Asp721Glu)
c.1845T>G (p.Asp615Glu)
c.2076T>G (p.Asp692Glu)
c.1491T>G (p.Asp497Glu)
c.1593T>G (p.Asp531Glu)
15g.50490455A=CA2176424925USP8c.2164A= (p.Ile722=)
c.1846A= (p.Ile616=)
c.2077A= (p.Ile693=)
c.1492A= (p.Ile498=)
c.1594A= (p.Ile532=)
15g.50490455A>CCA392399176USP8c.2164A>C (p.Ile722Leu)
c.1846A>C (p.Ile616Leu)
c.2077A>C (p.Ile693Leu)
c.1492A>C (p.Ile498Leu)
c.1594A>C (p.Ile532Leu)
15g.50490455A>GCA392399180USP8c.2164A>G (p.Ile722Val)
c.1846A>G (p.Ile616Val)
c.2077A>G (p.Ile693Val)
c.1492A>G (p.Ile498Val)
c.1594A>G (p.Ile532Val)
dbSNP gnomAD v2 gnomAD v4
15g.50490455A>TCA392399178USP8c.2164A>T (p.Ile722Leu)
c.1846A>T (p.Ile616Leu)
c.2077A>T (p.Ile693Leu)
c.1492A>T (p.Ile498Leu)
c.1594A>T (p.Ile532Leu)
15g.50490456T>ACA392399181USP8c.2165T>A (p.Ile722Lys)
c.1847T>A (p.Ile616Lys)
c.2078T>A (p.Ile693Lys)
c.1493T>A (p.Ile498Lys)
c.1595T>A (p.Ile532Lys)
gnomAD v4 COSMIC
15g.50490456T>CCA392399184USP8c.2165T>C (p.Ile722Thr)
c.1847T>C (p.Ile616Thr)
c.2078T>C (p.Ile693Thr)
c.1493T>C (p.Ile498Thr)
c.1595T>C (p.Ile532Thr)
gnomAD v4
15g.50490456T>GCA392399183USP8c.2165T>G (p.Ile722Arg)
c.1847T>G (p.Ile616Arg)
c.2078T>G (p.Ile693Arg)
c.1493T>G (p.Ile498Arg)
c.1595T>G (p.Ile532Arg)
15g.50490457A>CCA490561900USP8c.2166A>C (p.Ile722=)
c.1848A>C (p.Ile616=)
c.2079A>C (p.Ile693=)
c.1494A>C (p.Ile498=)
c.1596A>C (p.Ile532=)
gnomAD v3 gnomAD v4
15g.50490457A>GCA392399185USP8c.2166A>G (p.Ile722Met)
c.1848A>G (p.Ile616Met)
c.2079A>G (p.Ile693Met)
c.1494A>G (p.Ile498Met)
c.1596A>G (p.Ile532Met)
15g.50490457A>TCA490561901USP8c.2166A>T (p.Ile722=)
c.1848A>T (p.Ile616=)
c.2079A>T (p.Ile693=)
c.1494A>T (p.Ile498=)
c.1596A>T (p.Ile532=)
15g.50490458A>CCA392399188USP8c.2167A>C (p.Thr723Pro)
c.1849A>C (p.Thr617Pro)
c.2080A>C (p.Thr694Pro)
c.1495A>C (p.Thr499Pro)
c.1597A>C (p.Thr533Pro)
15g.50490458A>GCA392399189USP8c.2167A>G (p.Thr723Ala)
c.1849A>G (p.Thr617Ala)
c.2080A>G (p.Thr694Ala)
c.1495A>G (p.Thr499Ala)
c.1597A>G (p.Thr533Ala)
15g.50490458A>TCA392399191USP8c.2167A>T (p.Thr723Ser)
c.1849A>T (p.Thr617Ser)
c.2080A>T (p.Thr694Ser)
c.1495A>T (p.Thr499Ser)
c.1597A>T (p.Thr533Ser)
15g.50490459C>ACA392399193USP8c.2168C>A (p.Thr723Asn)
c.1850C>A (p.Thr617Asn)
c.2081C>A (p.Thr694Asn)
c.1496C>A (p.Thr499Asn)
c.1598C>A (p.Thr533Asn)
dbSNP
15g.50490459C=CA2176424926USP8c.2168C= (p.Thr723=)
c.1850C= (p.Thr617=)
c.2081C= (p.Thr694=)
c.1496C= (p.Thr499=)
c.1598C= (p.Thr533=)
15g.50490459C>GCA7555903USP8c.2168C>G (p.Thr723Ser)
c.1850C>G (p.Thr617Ser)
c.2081C>G (p.Thr694Ser)
c.1496C>G (p.Thr499Ser)
c.1598C>G (p.Thr533Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490459C>TCA392399196USP8c.2168C>T (p.Thr723Ile)
c.1850C>T (p.Thr617Ile)
c.2081C>T (p.Thr694Ile)
c.1496C>T (p.Thr499Ile)
c.1598C>T (p.Thr533Ile)
dbSNP
15g.50490460C>ACA490561902USP8c.2169C>A (p.Thr723=)
c.1851C>A (p.Thr617=)
c.2082C>A (p.Thr694=)
c.1497C>A (p.Thr499=)
c.1599C>A (p.Thr533=)
dbSNP
15g.50490460C>GCA490561903USP8c.2169C>G (p.Thr723=)
c.1851C>G (p.Thr617=)
c.2082C>G (p.Thr694=)
c.1497C>G (p.Thr499=)
c.1599C>G (p.Thr533=)
15g.50490460C>TCA490561904USP8c.2169C>T (p.Thr723=)
c.1851C>T (p.Thr617=)
c.2082C>T (p.Thr694=)
c.1497C>T (p.Thr499=)
c.1599C>T (p.Thr533=)
dbSNP
15g.50490461C>ACA392399202USP8c.2170C>A (p.Gln724Lys)
c.1852C>A (p.Gln618Lys)
c.2083C>A (p.Gln695Lys)
c.1498C>A (p.Gln500Lys)
c.1600C>A (p.Gln534Lys)
15g.50490461C>GCA392399198USP8c.2170C>G (p.Gln724Glu)
c.1852C>G (p.Gln618Glu)
c.2083C>G (p.Gln695Glu)
c.1498C>G (p.Gln500Glu)
c.1600C>G (p.Gln534Glu)
15g.50490461C>TCA392399200USP8c.2170C>T (p.Gln724Ter)
c.1852C>T (p.Gln618Ter)
c.2083C>T (p.Gln695Ter)
c.1498C>T (p.Gln500Ter)
c.1600C>T (p.Gln534Ter)
dbSNP
15g.50490462A>CCA392399204USP8c.2171A>C (p.Gln724Pro)
c.1853A>C (p.Gln618Pro)
c.2084A>C (p.Gln695Pro)
c.1499A>C (p.Gln500Pro)
c.1601A>C (p.Gln534Pro)
15g.50490462A>GCA392399206USP8c.2171A>G (p.Gln724Arg)
c.1853A>G (p.Gln618Arg)
c.2084A>G (p.Gln695Arg)
c.1499A>G (p.Gln500Arg)
c.1601A>G (p.Gln534Arg)
15g.50490462A>TCA392399207USP8c.2171A>T (p.Gln724Leu)
c.1853A>T (p.Gln618Leu)
c.2084A>T (p.Gln695Leu)
c.1499A>T (p.Gln500Leu)
c.1601A>T (p.Gln534Leu)
15g.50490463G>ACA490561905USP8c.2172G>A (p.Gln724=)
c.1854G>A (p.Gln618=)
c.2085G>A (p.Gln695=)
c.1500G>A (p.Gln500=)
c.1602G>A (p.Gln534=)
15g.50490463G>CCA392399209USP8c.2172G>C (p.Gln724His)
c.1854G>C (p.Gln618His)
c.2085G>C (p.Gln695His)
c.1500G>C (p.Gln500His)
c.1602G>C (p.Gln534His)
15g.50490463G>TCA392399211USP8c.2172G>T (p.Gln724His)
c.1854G>T (p.Gln618His)
c.2085G>T (p.Gln695His)
c.1500G>T (p.Gln500His)
c.1602G>T (p.Gln534His)
15g.50490464G>ACA392399215USP8c.2173G>A (p.Ala725Thr)
c.1855G>A (p.Ala619Thr)
c.2086G>A (p.Ala696Thr)
c.1501G>A (p.Ala501Thr)
c.1603G>A (p.Ala535Thr)
dbSNP
15g.50490464G>CCA392399213USP8c.2173G>C (p.Ala725Pro)
c.1855G>C (p.Ala619Pro)
c.2086G>C (p.Ala696Pro)
c.1501G>C (p.Ala501Pro)
c.1603G>C (p.Ala535Pro)
15g.50490464G>TCA392399214USP8c.2173G>T (p.Ala725Ser)
c.1855G>T (p.Ala619Ser)
c.2086G>T (p.Ala696Ser)
c.1501G>T (p.Ala501Ser)
c.1603G>T (p.Ala535Ser)
15g.50490465C>ACA392399217USP8c.2174C>A (p.Ala725Asp)
c.1856C>A (p.Ala619Asp)
c.2087C>A (p.Ala696Asp)
c.1502C>A (p.Ala501Asp)
c.1604C>A (p.Ala535Asp)
15g.50490465C=CA2176424927USP8c.2174C= (p.Ala725=)
c.1856C= (p.Ala619=)
c.2087C= (p.Ala696=)
c.1502C= (p.Ala501=)
c.1604C= (p.Ala535=)
15g.50490465C>GCA7555904USP8c.2174C>G (p.Ala725Gly)
c.1856C>G (p.Ala619Gly)
c.2087C>G (p.Ala696Gly)
c.1502C>G (p.Ala501Gly)
c.1604C>G (p.Ala535Gly)
dbSNP ExAC
15g.50490465C>TCA392399218USP8c.2174C>T (p.Ala725Val)
c.1856C>T (p.Ala619Val)
c.2087C>T (p.Ala696Val)
c.1502C>T (p.Ala501Val)
c.1604C>T (p.Ala535Val)
dbSNP gnomAD v4
15g.50490466T>ACA490561906USP8c.2175T>A (p.Ala725=)
c.1857T>A (p.Ala619=)
c.2088T>A (p.Ala696=)
c.1503T>A (p.Ala501=)
c.1605T>A (p.Ala535=)
15g.50490466T>CCA490561907USP8c.2175T>C (p.Ala725=)
c.1857T>C (p.Ala619=)
c.2088T>C (p.Ala696=)
c.1503T>C (p.Ala501=)
c.1605T>C (p.Ala535=)
gnomAD v3 gnomAD v4
15g.50490466T>GCA490561908USP8c.2175T>G (p.Ala725=)
c.1857T>G (p.Ala619=)
c.2088T>G (p.Ala696=)
c.1503T>G (p.Ala501=)
c.1605T>G (p.Ala535=)
15g.50490467_50490469dupCA912980589USP8c.2176_2178dup (p.Ile726_Gln727insIle)
c.1858_1860dup (p.Ile620_Gln621insIle)
c.2089_2091dup (p.Ile697_Gln698insIle)
c.1504_1506dup (p.Ile502_Gln503insIle)
c.1606_1608dup (p.Ile536_Gln537insIle)
15g.50490467A>CCA392399220USP8c.2176A>C (p.Ile726Leu)
c.1858A>C (p.Ile620Leu)
c.2089A>C (p.Ile697Leu)
c.1504A>C (p.Ile502Leu)
c.1606A>C (p.Ile536Leu)
15g.50490467A>GCA392399222USP8c.2176A>G (p.Ile726Val)
c.1858A>G (p.Ile620Val)
c.2089A>G (p.Ile697Val)
c.1504A>G (p.Ile502Val)
c.1606A>G (p.Ile536Val)
COSMIC
15g.50490467A>TCA392399224USP8c.2176A>T (p.Ile726Phe)
c.1858A>T (p.Ile620Phe)
c.2089A>T (p.Ile697Phe)
c.1504A>T (p.Ile502Phe)
c.1606A>T (p.Ile536Phe)
gnomAD v4
15g.50490468T>ACA392399226USP8c.2177T>A (p.Ile726Asn)
c.1859T>A (p.Ile620Asn)
c.2090T>A (p.Ile697Asn)
c.1505T>A (p.Ile502Asn)
c.1607T>A (p.Ile536Asn)
15g.50490468T>CCA392399228USP8c.2177T>C (p.Ile726Thr)
c.1859T>C (p.Ile620Thr)
c.2090T>C (p.Ile697Thr)
c.1505T>C (p.Ile502Thr)
c.1607T>C (p.Ile536Thr)
15g.50490468T>GCA392399229USP8c.2177T>G (p.Ile726Ser)
c.1859T>G (p.Ile620Ser)
c.2090T>G (p.Ile697Ser)
c.1505T>G (p.Ile502Ser)
c.1607T>G (p.Ile536Ser)
15g.50490469T>ACA490561909USP8c.2178T>A (p.Ile726=)
c.1860T>A (p.Ile620=)
c.2091T>A (p.Ile697=)
c.1506T>A (p.Ile502=)
c.1608T>A (p.Ile536=)
15g.50490469T>CCA490561910USP8c.2178T>C (p.Ile726=)
c.1860T>C (p.Ile620=)
c.2091T>C (p.Ile697=)
c.1506T>C (p.Ile502=)
c.1608T>C (p.Ile536=)
15g.50490469T>GCA392399231USP8c.2178T>G (p.Ile726Met)
c.1860T>G (p.Ile620Met)
c.2091T>G (p.Ile697Met)
c.1506T>G (p.Ile502Met)
c.1608T>G (p.Ile536Met)
15g.50490470C>ACA392399233USP8c.2179C>A (p.Gln727Lys)
c.1861C>A (p.Gln621Lys)
c.2092C>A (p.Gln698Lys)
c.1507C>A (p.Gln503Lys)
c.1609C>A (p.Gln537Lys)
15g.50490470C>GCA392399234USP8c.2179C>G (p.Gln727Glu)
c.1861C>G (p.Gln621Glu)
c.2092C>G (p.Gln698Glu)
c.1507C>G (p.Gln503Glu)
c.1609C>G (p.Gln537Glu)
15g.50490470C>TCA392399236USP8c.2179C>T (p.Gln727Ter)
c.1861C>T (p.Gln621Ter)
c.2092C>T (p.Gln698Ter)
c.1507C>T (p.Gln503Ter)
c.1609C>T (p.Gln537Ter)
15g.50490470_50490481delinsCAAGAGGAAGAGCA2176424928USP8c.2179_2190delinsCAAGAGGAAGAG (p.Gln727=)
c.1861_1872delinsCAAGAGGAAGAG (p.Gln621=)
c.2092_2103delinsCAAGAGGAAGAG (p.Gln698=)
c.1507_1518delinsCAAGAGGAAGAG (p.Gln503=)
c.1609_1620delinsCAAGAGGAAGAG (p.Gln537=)
15g.50490471A>CCA392399239USP8c.2180A>C (p.Gln727Pro)
c.1862A>C (p.Gln621Pro)
c.2093A>C (p.Gln698Pro)
c.1508A>C (p.Gln503Pro)
c.1610A>C (p.Gln537Pro)
15g.50490471A>GCA392399241USP8c.2180A>G (p.Gln727Arg)
c.1862A>G (p.Gln621Arg)
c.2093A>G (p.Gln698Arg)
c.1508A>G (p.Gln503Arg)
c.1610A>G (p.Gln537Arg)
15g.50490471A>TCA392399242USP8c.2180A>T (p.Gln727Leu)
c.1862A>T (p.Gln621Leu)
c.2093A>T (p.Gln698Leu)
c.1508A>T (p.Gln503Leu)
c.1610A>T (p.Gln537Leu)
15g.50490480_50490490delCA270503480USP8c.2189_2199del (p.Glu730AlafsTer8)
c.1871_1881del (p.Glu624AlafsTer8)
c.2102_2112del (p.Glu701AlafsTer8)
c.1517_1527del (p.Glu506AlafsTer8)
c.1619_1629del (p.Glu540AlafsTer8)
dbSNP
15g.50490472A>CCA392399244USP8c.2181A>C (p.Gln727His)
c.1863A>C (p.Gln621His)
c.2094A>C (p.Gln698His)
c.1509A>C (p.Gln503His)
c.1611A>C (p.Gln537His)
15g.50490472A>GCA490561911USP8c.2181A>G (p.Gln727=)
c.1863A>G (p.Gln621=)
c.2094A>G (p.Gln698=)
c.1509A>G (p.Gln503=)
c.1611A>G (p.Gln537=)
COSMIC
15g.50490472A>TCA392399245USP8c.2181A>T (p.Gln727His)
c.1863A>T (p.Gln621His)
c.2094A>T (p.Gln698His)
c.1509A>T (p.Gln503His)
c.1611A>T (p.Gln537His)
15g.50490473G>ACA392399247USP8c.2182G>A (p.Glu728Lys)
c.1864G>A (p.Glu622Lys)
c.2095G>A (p.Glu699Lys)
c.1510G>A (p.Glu504Lys)
c.1612G>A (p.Glu538Lys)
15g.50490473G>CCA392399249USP8c.2182G>C (p.Glu728Gln)
c.1864G>C (p.Glu622Gln)
c.2095G>C (p.Glu699Gln)
c.1510G>C (p.Glu504Gln)
c.1612G>C (p.Glu538Gln)
15g.50490473G>TCA392399251USP8c.2182G>T (p.Glu728Ter)
c.1864G>T (p.Glu622Ter)
c.2095G>T (p.Glu699Ter)
c.1510G>T (p.Glu504Ter)
c.1612G>T (p.Glu538Ter)
15g.50490474A>CCA392399255USP8c.2183A>C (p.Glu728Ala)
c.1865A>C (p.Glu622Ala)
c.2096A>C (p.Glu699Ala)
c.1511A>C (p.Glu504Ala)
c.1613A>C (p.Glu538Ala)
15g.50490474A>GCA392399253USP8c.2183A>G (p.Glu728Gly)
c.1865A>G (p.Glu622Gly)
c.2096A>G (p.Glu699Gly)
c.1511A>G (p.Glu504Gly)
c.1613A>G (p.Glu538Gly)
15g.50490474A>TCA392399254USP8c.2183A>T (p.Glu728Val)
c.1865A>T (p.Glu622Val)
c.2096A>T (p.Glu699Val)
c.1511A>T (p.Glu504Val)
c.1613A>T (p.Glu538Val)
15g.50490475G>ACA490561912USP8c.2184G>A (p.Glu728=)
c.1866G>A (p.Glu622=)
c.2097G>A (p.Glu699=)
c.1512G>A (p.Glu504=)
c.1614G>A (p.Glu538=)
dbSNP
15g.50490475G>CCA392399256USP8c.2184G>C (p.Glu728Asp)
c.1866G>C (p.Glu622Asp)
c.2097G>C (p.Glu699Asp)
c.1512G>C (p.Glu504Asp)
c.1614G>C (p.Glu538Asp)
dbSNP gnomAD v2 gnomAD v4
15g.50490475G=CA2176424929USP8c.2184G= (p.Glu728=)
c.1866G= (p.Glu622=)
c.2097G= (p.Glu699=)
c.1512G= (p.Glu504=)
c.1614G= (p.Glu538=)
15g.50490475G>TCA392399257USP8c.2184G>T (p.Glu728Asp)
c.1866G>T (p.Glu622Asp)
c.2097G>T (p.Glu699Asp)
c.1512G>T (p.Glu504Asp)
c.1614G>T (p.Glu538Asp)
gnomAD v4
15g.50490476G>ACA392399259USP8c.2185G>A (p.Glu729Lys)
c.1867G>A (p.Glu623Lys)
c.2098G>A (p.Glu700Lys)
c.1513G>A (p.Glu505Lys)
c.1615G>A (p.Glu539Lys)
dbSNP
15g.50490476G>CCA392399260USP8c.2185G>C (p.Glu729Gln)
c.1867G>C (p.Glu623Gln)
c.2098G>C (p.Glu700Gln)
c.1513G>C (p.Glu505Gln)
c.1615G>C (p.Glu539Gln)
15g.50490476G>TCA392399262USP8c.2185G>T (p.Glu729Ter)
c.1867G>T (p.Glu623Ter)
c.2098G>T (p.Glu700Ter)
c.1513G>T (p.Glu505Ter)
c.1615G>T (p.Glu539Ter)
15g.50490477A>CCA392399263USP8c.2186A>C (p.Glu729Ala)
c.1868A>C (p.Glu623Ala)
c.2099A>C (p.Glu700Ala)
c.1514A>C (p.Glu505Ala)
c.1616A>C (p.Glu539Ala)
15g.50490477A>GCA392399266USP8c.2186A>G (p.Glu729Gly)
c.1868A>G (p.Glu623Gly)
c.2099A>G (p.Glu700Gly)
c.1514A>G (p.Glu505Gly)
c.1616A>G (p.Glu539Gly)
15g.50490477A>TCA392399265USP8c.2186A>T (p.Glu729Val)
c.1868A>T (p.Glu623Val)
c.2099A>T (p.Glu700Val)
c.1514A>T (p.Glu505Val)
c.1616A>T (p.Glu539Val)
15g.50490478A=CA2176424930USP8c.2187A= (p.Glu729=)
c.1869A= (p.Glu623=)
c.2100A= (p.Glu700=)
c.1515A= (p.Glu505=)
c.1617A= (p.Glu539=)
15g.50490478A>CCA392399268USP8c.2187A>C (p.Glu729Asp)
c.1869A>C (p.Glu623Asp)
c.2100A>C (p.Glu700Asp)
c.1515A>C (p.Glu505Asp)
c.1617A>C (p.Glu539Asp)
15g.50490478A>GCA270503485USP8c.2187A>G (p.Glu729=)
c.1869A>G (p.Glu623=)
c.2100A>G (p.Glu700=)
c.1515A>G (p.Glu505=)
c.1617A>G (p.Glu539=)
dbSNP gnomAD v3 gnomAD v4
15g.50490478A>TCA392399269USP8c.2187A>T (p.Glu729Asp)
c.1869A>T (p.Glu623Asp)
c.2100A>T (p.Glu700Asp)
c.1515A>T (p.Glu505Asp)
c.1617A>T (p.Glu539Asp)
15g.50490479G>ACA392399271USP8c.2188G>A (p.Glu730Lys)
c.1870G>A (p.Glu624Lys)
c.2101G>A (p.Glu701Lys)
c.1516G>A (p.Glu506Lys)
c.1618G>A (p.Glu540Lys)
15g.50490479G>CCA392399273USP8c.2188G>C (p.Glu730Gln)
c.1870G>C (p.Glu624Gln)
c.2101G>C (p.Glu701Gln)
c.1516G>C (p.Glu506Gln)
c.1618G>C (p.Glu540Gln)
gnomAD v4
15g.50490479G>TCA392399274USP8c.2188G>T (p.Glu730Ter)
c.1870G>T (p.Glu624Ter)
c.2101G>T (p.Glu701Ter)
c.1516G>T (p.Glu506Ter)
c.1618G>T (p.Glu540Ter)
15g.50490479_50490481delCA2628415153USP8c.2188_2190del (p.Glu730del)
c.1870_1872del (p.Glu624del)
c.2101_2103del (p.Glu701del)
c.1516_1518del (p.Glu506del)
c.1618_1620del (p.Glu540del)
gnomAD v4
15g.50490480A=CA2176424931USP8c.2189A= (p.Glu730=)
c.1871A= (p.Glu624=)
c.2102A= (p.Glu701=)
c.1517A= (p.Glu506=)
c.1619A= (p.Glu540=)
15g.50490480A>CCA392399276USP8c.2189A>C (p.Glu730Ala)
c.1871A>C (p.Glu624Ala)
c.2102A>C (p.Glu701Ala)
c.1517A>C (p.Glu506Ala)
c.1619A>C (p.Glu540Ala)
15g.50490480A>GCA392399278USP8c.2189A>G (p.Glu730Gly)
c.1871A>G (p.Glu624Gly)
c.2102A>G (p.Glu701Gly)
c.1517A>G (p.Glu506Gly)
c.1619A>G (p.Glu540Gly)
15g.50490480A>TCA7555905USP8c.2189A>T (p.Glu730Val)
c.1871A>T (p.Glu624Val)
c.2102A>T (p.Glu701Val)
c.1517A>T (p.Glu506Val)
c.1619A>T (p.Glu540Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490481G>ACA490561913USP8c.2190G>A (p.Glu730=)
c.1872G>A (p.Glu624=)
c.2103G>A (p.Glu701=)
c.1518G>A (p.Glu506=)
c.1620G>A (p.Glu540=)
gnomAD v4
15g.50490481G>CCA7555906USP8c.2190G>C (p.Glu730Asp)
c.1872G>C (p.Glu624Asp)
c.2103G>C (p.Glu701Asp)
c.1518G>C (p.Glu506Asp)
c.1620G>C (p.Glu540Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490481G=CA2176424932USP8c.2190G= (p.Glu730=)
c.1872G= (p.Glu624=)
c.2103G= (p.Glu701=)
c.1518G= (p.Glu506=)
c.1620G= (p.Glu540=)
15g.50490481G>TCA392399280USP8c.2190G>T (p.Glu730Asp)
c.1872G>T (p.Glu624Asp)
c.2103G>T (p.Glu701Asp)
c.1518G>T (p.Glu506Asp)
c.1620G>T (p.Glu540Asp)
15g.50490482A=CA2176424933USP8c.2191A= (p.Lys731=)
c.1873A= (p.Lys625=)
c.2104A= (p.Lys702=)
c.1519A= (p.Lys507=)
c.1621A= (p.Lys541=)
15g.50490482A>CCA392399282USP8c.2191A>C (p.Lys731Gln)
c.1873A>C (p.Lys625Gln)
c.2104A>C (p.Lys702Gln)
c.1519A>C (p.Lys507Gln)
c.1621A>C (p.Lys541Gln)
15g.50490482A>GCA392399285USP8c.2191A>G (p.Lys731Glu)
c.1873A>G (p.Lys625Glu)
c.2104A>G (p.Lys702Glu)
c.1519A>G (p.Lys507Glu)
c.1621A>G (p.Lys541Glu)
dbSNP gnomAD v4
15g.50490482A>TCA392399283USP8c.2191A>T (p.Lys731Ter)
c.1873A>T (p.Lys625Ter)
c.2104A>T (p.Lys702Ter)
c.1519A>T (p.Lys507Ter)
c.1621A>T (p.Lys541Ter)
15g.50490483A=CA2176424934USP8c.2192A= (p.Lys731=)
c.1874A= (p.Lys625=)
c.2105A= (p.Lys702=)
c.1520A= (p.Lys507=)
c.1622A= (p.Lys541=)
15g.50490483A>CCA392399287USP8c.2192A>C (p.Lys731Thr)
c.1874A>C (p.Lys625Thr)
c.2105A>C (p.Lys702Thr)
c.1520A>C (p.Lys507Thr)
c.1622A>C (p.Lys541Thr)
15g.50490483A>GCA392399291USP8c.2192A>G (p.Lys731Arg)
c.1874A>G (p.Lys625Arg)
c.2105A>G (p.Lys702Arg)
c.1520A>G (p.Lys507Arg)
c.1622A>G (p.Lys541Arg)
dbSNP gnomAD v4
15g.50490483A>TCA392399289USP8c.2192A>T (p.Lys731Met)
c.1874A>T (p.Lys625Met)
c.2105A>T (p.Lys702Met)
c.1520A>T (p.Lys507Met)
c.1622A>T (p.Lys541Met)
15g.50490484G>ACA490561914USP8c.2193G>A (p.Lys731=)
c.1875G>A (p.Lys625=)
c.2106G>A (p.Lys702=)
c.1521G>A (p.Lys507=)
c.1623G>A (p.Lys541=)
15g.50490484G>CCA392399292USP8c.2193G>C (p.Lys731Asn)
c.1875G>C (p.Lys625Asn)
c.2106G>C (p.Lys702Asn)
c.1521G>C (p.Lys507Asn)
c.1623G>C (p.Lys541Asn)
dbSNP
15g.50490484G>TCA392399293USP8c.2193G>T (p.Lys731Asn)
c.1875G>T (p.Lys625Asn)
c.2106G>T (p.Lys702Asn)
c.1521G>T (p.Lys507Asn)
c.1623G>T (p.Lys541Asn)
COSMIC
15g.50490485A>CCA490561915USP8c.2194A>C (p.Arg732=)
c.1876A>C (p.Arg626=)
c.2107A>C (p.Arg703=)
c.1522A>C (p.Arg508=)
c.1624A>C (p.Arg542=)
15g.50490485A>GCA392399295USP8c.2194A>G (p.Arg732Gly)
c.1876A>G (p.Arg626Gly)
c.2107A>G (p.Arg703Gly)
c.1522A>G (p.Arg508Gly)
c.1624A>G (p.Arg542Gly)
15g.50490485A>TCA392399297USP8c.2194A>T (p.Arg732Trp)
c.1876A>T (p.Arg626Trp)
c.2107A>T (p.Arg703Trp)
c.1522A>T (p.Arg508Trp)
c.1624A>T (p.Arg542Trp)
15g.50490486G>ACA7555907USP8c.2195G>A (p.Arg732Lys)
c.1877G>A (p.Arg626Lys)
c.2108G>A (p.Arg703Lys)
c.1523G>A (p.Arg508Lys)
c.1625G>A (p.Arg542Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490486G>CCA392399301USP8c.2195G>C (p.Arg732Thr)
c.1877G>C (p.Arg626Thr)
c.2108G>C (p.Arg703Thr)
c.1523G>C (p.Arg508Thr)
c.1625G>C (p.Arg542Thr)
15g.50490486G=CA2176424935USP8c.2195G= (p.Arg732=)
c.1877G= (p.Arg626=)
c.2108G= (p.Arg703=)
c.1523G= (p.Arg508=)
c.1625G= (p.Arg542=)
15g.50490486G>TCA392399303USP8c.2195G>T (p.Arg732Met)
c.1877G>T (p.Arg626Met)
c.2108G>T (p.Arg703Met)
c.1523G>T (p.Arg508Met)
c.1625G>T (p.Arg542Met)
15g.50490487G>ACA490561916USP8c.2196G>A (p.Arg732=)
c.1878G>A (p.Arg626=)
c.2109G>A (p.Arg703=)
c.1524G>A (p.Arg508=)
c.1626G>A (p.Arg542=)
dbSNP gnomAD v4
15g.50490487G>CCA392399304USP8c.2196G>C (p.Arg732Ser)
c.1878G>C (p.Arg626Ser)
c.2109G>C (p.Arg703Ser)
c.1524G>C (p.Arg508Ser)
c.1626G>C (p.Arg542Ser)
15g.50490487G>TCA392399305USP8c.2196G>T (p.Arg732Ser)
c.1878G>T (p.Arg626Ser)
c.2109G>T (p.Arg703Ser)
c.1524G>T (p.Arg508Ser)
c.1626G>T (p.Arg542Ser)
15g.50490488A=CA2176424936USP8c.2197A= (p.Lys733=)
c.1879A= (p.Lys627=)
c.2110A= (p.Lys704=)
c.1525A= (p.Lys509=)
c.1627A= (p.Lys543=)
15g.50490488A>CCA392399307USP8c.2197A>C (p.Lys733Gln)
c.1879A>C (p.Lys627Gln)
c.2110A>C (p.Lys704Gln)
c.1525A>C (p.Lys509Gln)
c.1627A>C (p.Lys543Gln)
15g.50490488A>GCA392399310USP8c.2197A>G (p.Lys733Glu)
c.1879A>G (p.Lys627Glu)
c.2110A>G (p.Lys704Glu)
c.1525A>G (p.Lys509Glu)
c.1627A>G (p.Lys543Glu)
dbSNP
15g.50490488A>TCA392399311USP8c.2197A>T (p.Lys733Ter)
c.1879A>T (p.Lys627Ter)
c.2110A>T (p.Lys704Ter)
c.1525A>T (p.Lys509Ter)
c.1627A>T (p.Lys543Ter)
15g.50490489A=CA2176424937USP8c.2198A= (p.Lys733=)
c.1880A= (p.Lys627=)
c.2111A= (p.Lys704=)
c.1526A= (p.Lys509=)
c.1628A= (p.Lys543=)
15g.50490489A>CCA392399315USP8c.2198A>C (p.Lys733Thr)
c.1880A>C (p.Lys627Thr)
c.2111A>C (p.Lys704Thr)
c.1526A>C (p.Lys509Thr)
c.1628A>C (p.Lys543Thr)
15g.50490489A>GCA392399313USP8c.2198A>G (p.Lys733Arg)
c.1880A>G (p.Lys627Arg)
c.2111A>G (p.Lys704Arg)
c.1526A>G (p.Lys509Arg)
c.1628A>G (p.Lys543Arg)
15g.50490489A>TCA7555908USP8c.2198A>T (p.Lys733Met)
c.1880A>T (p.Lys627Met)
c.2111A>T (p.Lys704Met)
c.1526A>T (p.Lys509Met)
c.1628A>T (p.Lys543Met)
dbSNP ExAC gnomAD v2
15g.50490490G>ACA490561917USP8c.2199G>A (p.Lys733=)
c.1881G>A (p.Lys627=)
c.2112G>A (p.Lys704=)
c.1527G>A (p.Lys509=)
c.1629G>A (p.Lys543=)
dbSNP gnomAD v4
15g.50490490G>CCA392399317USP8c.2199G>C (p.Lys733Asn)
c.1881G>C (p.Lys627Asn)
c.2112G>C (p.Lys704Asn)
c.1527G>C (p.Lys509Asn)
c.1629G>C (p.Lys543Asn)
dbSNP
15g.50490490G>TCA392399318USP8c.2199G>T (p.Lys733Asn)
c.1881G>T (p.Lys627Asn)
c.2112G>T (p.Lys704Asn)
c.1527G>T (p.Lys509Asn)
c.1629G>T (p.Lys543Asn)
15g.50490491C>ACA392399319USP8c.2200C>A (p.Pro734Thr)
c.1882C>A (p.Pro628Thr)
c.2113C>A (p.Pro705Thr)
c.1528C>A (p.Pro510Thr)
c.1630C>A (p.Pro544Thr)
15g.50490491C>GCA392399320USP8c.2200C>G (p.Pro734Ala)
c.1882C>G (p.Pro628Ala)
c.2113C>G (p.Pro705Ala)
c.1528C>G (p.Pro510Ala)
c.1630C>G (p.Pro544Ala)
15g.50490491C>TCA392399321USP8c.2200C>T (p.Pro734Ser)
c.1882C>T (p.Pro628Ser)
c.2113C>T (p.Pro705Ser)
c.1528C>T (p.Pro510Ser)
c.1630C>T (p.Pro544Ser)
dbSNP
15g.50490492C>ACA392399324USP8c.2201C>A (p.Pro734Gln)
c.1883C>A (p.Pro628Gln)
c.2114C>A (p.Pro705Gln)
c.1529C>A (p.Pro510Gln)
c.1631C>A (p.Pro544Gln)
15g.50490492C>GCA392399325USP8c.2201C>G (p.Pro734Arg)
c.1883C>G (p.Pro628Arg)
c.2114C>G (p.Pro705Arg)
c.1529C>G (p.Pro510Arg)
c.1631C>G (p.Pro544Arg)
15g.50490492C>TCA392399326USP8c.2201C>T (p.Pro734Leu)
c.1883C>T (p.Pro628Leu)
c.2114C>T (p.Pro705Leu)
c.1529C>T (p.Pro510Leu)
c.1631C>T (p.Pro544Leu)
15g.50490493A=CA2176424938USP8c.2202A= (p.Pro734=)
c.1884A= (p.Pro628=)
c.2115A= (p.Pro705=)
c.1530A= (p.Pro510=)
c.1632A= (p.Pro544=)
15g.50490493A>CCA7555910USP8c.2202A>C (p.Pro734=)
c.1884A>C (p.Pro628=)
c.2115A>C (p.Pro705=)
c.1530A>C (p.Pro510=)
c.1632A>C (p.Pro544=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490493A>GCA490561918USP8c.2202A>G (p.Pro734=)
c.1884A>G (p.Pro628=)
c.2115A>G (p.Pro705=)
c.1530A>G (p.Pro510=)
c.1632A>G (p.Pro544=)
15g.50490493A>TCA7555909USP8c.2202A>T (p.Pro734=)
c.1884A>T (p.Pro628=)
c.2115A>T (p.Pro705=)
c.1530A>T (p.Pro510=)
c.1632A>T (p.Pro544=)
dbSNP ExAC gnomAD v2
15g.50490494A>CCA392399333USP8c.2203A>C (p.Thr735Pro)
c.1885A>C (p.Thr629Pro)
c.2116A>C (p.Thr706Pro)
c.1531A>C (p.Thr511Pro)
c.1633A>C (p.Thr545Pro)
gnomAD v4
15g.50490494A>GCA392399331USP8c.2203A>G (p.Thr735Ala)
c.1885A>G (p.Thr629Ala)
c.2116A>G (p.Thr706Ala)
c.1531A>G (p.Thr511Ala)
c.1633A>G (p.Thr545Ala)
COSMIC
15g.50490494A>TCA392399330USP8c.2203A>T (p.Thr735Ser)
c.1885A>T (p.Thr629Ser)
c.2116A>T (p.Thr706Ser)
c.1531A>T (p.Thr511Ser)
c.1633A>T (p.Thr545Ser)
15g.50490495C>ACA392399335USP8c.2204C>A (p.Thr735Lys)
c.1886C>A (p.Thr629Lys)
c.2117C>A (p.Thr706Lys)
c.1532C>A (p.Thr511Lys)
c.1634C>A (p.Thr545Lys)
15g.50490495C>GCA392399337USP8c.2204C>G (p.Thr735Arg)
c.1886C>G (p.Thr629Arg)
c.2117C>G (p.Thr706Arg)
c.1532C>G (p.Thr511Arg)
c.1634C>G (p.Thr545Arg)
15g.50490495C>TCA392399338USP8c.2204C>T (p.Thr735Ile)
c.1886C>T (p.Thr629Ile)
c.2117C>T (p.Thr706Ile)
c.1532C>T (p.Thr511Ile)
c.1634C>T (p.Thr545Ile)
dbSNP
15g.50490496A>CCA490561919USP8c.2205A>C (p.Thr735=)
c.1887A>C (p.Thr629=)
c.2118A>C (p.Thr706=)
c.1533A>C (p.Thr511=)
c.1635A>C (p.Thr545=)
15g.50490496A>GCA490561920USP8c.2205A>G (p.Thr735=)
c.1887A>G (p.Thr629=)
c.2118A>G (p.Thr706=)
c.1533A>G (p.Thr511=)
c.1635A>G (p.Thr545=)
15g.50490496A>TCA490561921USP8c.2205A>T (p.Thr735=)
c.1887A>T (p.Thr629=)
c.2118A>T (p.Thr706=)
c.1533A>T (p.Thr511=)
c.1635A>T (p.Thr545=)
15g.50490497G>ACA392399340USP8c.2206G>A (p.Val736Ile)
c.1888G>A (p.Val630Ile)
c.2119G>A (p.Val707Ile)
c.1534G>A (p.Val512Ile)
c.1636G>A (p.Val546Ile)
dbSNP gnomAD v4 COSMIC
15g.50490497G>CCA392399342USP8c.2206G>C (p.Val736Leu)
c.1888G>C (p.Val630Leu)
c.2119G>C (p.Val707Leu)
c.1534G>C (p.Val512Leu)
c.1636G>C (p.Val546Leu)
15g.50490497G>TCA392399344USP8c.2206G>T (p.Val736Leu)
c.1888G>T (p.Val630Leu)
c.2119G>T (p.Val707Leu)
c.1534G>T (p.Val512Leu)
c.1636G>T (p.Val546Leu)
15g.50490498T>ACA392399346USP8c.2207T>A (p.Val736Glu)
c.1889T>A (p.Val630Glu)
c.2120T>A (p.Val707Glu)
c.1535T>A (p.Val512Glu)
c.1637T>A (p.Val546Glu)
15g.50490498T>CCA392399348USP8c.2207T>C (p.Val736Ala)
c.1889T>C (p.Val630Ala)
c.2120T>C (p.Val707Ala)
c.1535T>C (p.Val512Ala)
c.1637T>C (p.Val546Ala)
COSMIC
15g.50490498T>GCA392399350USP8c.2207T>G (p.Val736Gly)
c.1889T>G (p.Val630Gly)
c.2120T>G (p.Val707Gly)
c.1535T>G (p.Val512Gly)
c.1637T>G (p.Val546Gly)
15g.50490499A>CCA490561922USP8c.2208A>C (p.Val736=)
c.1890A>C (p.Val630=)
c.2121A>C (p.Val707=)
c.1536A>C (p.Val512=)
c.1638A>C (p.Val546=)
15g.50490499A>GCA490561924USP8c.2208A>G (p.Val736=)
c.1890A>G (p.Val630=)
c.2121A>G (p.Val707=)
c.1536A>G (p.Val512=)
c.1638A>G (p.Val546=)
15g.50490499A>TCA490561923USP8c.2208A>T (p.Val736=)
c.1890A>T (p.Val630=)
c.2121A>T (p.Val707=)
c.1536A>T (p.Val512=)
c.1638A>T (p.Val546=)
15g.50490500A>CCA392399352USP8c.2209A>C (p.Thr737Pro)
c.1891A>C (p.Thr631Pro)
c.2122A>C (p.Thr708Pro)
c.1537A>C (p.Thr513Pro)
c.1639A>C (p.Thr547Pro)
15g.50490500A>GCA392399353USP8c.2209A>G (p.Thr737Ala)
c.1891A>G (p.Thr631Ala)
c.2122A>G (p.Thr708Ala)
c.1537A>G (p.Thr513Ala)
c.1639A>G (p.Thr547Ala)
15g.50490500A>TCA392399355USP8c.2209A>T (p.Thr737Ser)
c.1891A>T (p.Thr631Ser)
c.2122A>T (p.Thr708Ser)
c.1537A>T (p.Thr513Ser)
c.1639A>T (p.Thr547Ser)
15g.50490501C>ACA392399360USP8c.2210C>A (p.Thr737Asn)
c.1892C>A (p.Thr631Asn)
c.2123C>A (p.Thr708Asn)
c.1538C>A (p.Thr513Asn)
c.1640C>A (p.Thr547Asn)
15g.50490501C>GCA392399358USP8c.2210C>G (p.Thr737Ser)
c.1892C>G (p.Thr631Ser)
c.2123C>G (p.Thr708Ser)
c.1538C>G (p.Thr513Ser)
c.1640C>G (p.Thr547Ser)
15g.50490501C>TCA392399356USP8c.2210C>T (p.Thr737Ile)
c.1892C>T (p.Thr631Ile)
c.2123C>T (p.Thr708Ile)
c.1538C>T (p.Thr513Ile)
c.1640C>T (p.Thr547Ile)
dbSNP
15g.50490502T>ACA490561925USP8c.2211T>A (p.Thr737=)
c.1893T>A (p.Thr631=)
c.2124T>A (p.Thr708=)
c.1539T>A (p.Thr513=)
c.1641T>A (p.Thr547=)
dbSNP
15g.50490502T>CCA490561926USP8c.2211T>C (p.Thr737=)
c.1893T>C (p.Thr631=)
c.2124T>C (p.Thr708=)
c.1539T>C (p.Thr513=)
c.1641T>C (p.Thr547=)
15g.50490502T>GCA490561927USP8c.2211T>G (p.Thr737=)
c.1893T>G (p.Thr631=)
c.2124T>G (p.Thr708=)
c.1539T>G (p.Thr513=)
c.1641T>G (p.Thr547=)
15g.50490503C>ACA392399362USP8c.2212C>A (p.Pro738Thr)
c.1894C>A (p.Pro632Thr)
c.2125C>A (p.Pro709Thr)
c.1540C>A (p.Pro514Thr)
c.1642C>A (p.Pro548Thr)
15g.50490503C=CA2176424939USP8c.2212C= (p.Pro738=)
c.1894C= (p.Pro632=)
c.2125C= (p.Pro709=)
c.1540C= (p.Pro514=)
c.1642C= (p.Pro548=)
15g.50490503C>GCA392399363USP8c.2212C>G (p.Pro738Ala)
c.1894C>G (p.Pro632Ala)
c.2125C>G (p.Pro709Ala)
c.1540C>G (p.Pro514Ala)
c.1642C>G (p.Pro548Ala)
dbSNP gnomAD v4
15g.50490503C>TCA392399365USP8c.2212C>T (p.Pro738Ser)
c.1894C>T (p.Pro632Ser)
c.2125C>T (p.Pro709Ser)
c.1540C>T (p.Pro514Ser)
c.1642C>T (p.Pro548Ser)
15g.50490504C>ACA392399367USP8c.2213C>A (p.Pro738Gln)
c.1895C>A (p.Pro632Gln)
c.2126C>A (p.Pro709Gln)
c.1541C>A (p.Pro514Gln)
c.1643C>A (p.Pro548Gln)
15g.50490504C>GCA392399369USP8c.2213C>G (p.Pro738Arg)
c.1895C>G (p.Pro632Arg)
c.2126C>G (p.Pro709Arg)
c.1541C>G (p.Pro514Arg)
c.1643C>G (p.Pro548Arg)
15g.50490504C>TCA392399371USP8c.2213C>T (p.Pro738Leu)
c.1895C>T (p.Pro632Leu)
c.2126C>T (p.Pro709Leu)
c.1541C>T (p.Pro514Leu)
c.1643C>T (p.Pro548Leu)
15g.50490505A>CCA490561928USP8c.2214A>C (p.Pro738=)
c.1896A>C (p.Pro632=)
c.2127A>C (p.Pro709=)
c.1542A>C (p.Pro514=)
c.1644A>C (p.Pro548=)
15g.50490505A>GCA490561929USP8c.2214A>G (p.Pro738=)
c.1896A>G (p.Pro632=)
c.2127A>G (p.Pro709=)
c.1542A>G (p.Pro514=)
c.1644A>G (p.Pro548=)
gnomAD v4
15g.50490505A>TCA490561930USP8c.2214A>T (p.Pro738=)
c.1896A>T (p.Pro632=)
c.2127A>T (p.Pro709=)
c.1542A>T (p.Pro514=)
c.1644A>T (p.Pro548=)
15g.50490506A=CA2176424940USP8c.2215A= (p.Thr739=)
c.1897A= (p.Thr633=)
c.2128A= (p.Thr710=)
c.1543A= (p.Thr515=)
c.1645A= (p.Thr549=)
15g.50490506A>CCA392399373USP8c.2215A>C (p.Thr739Pro)
c.1897A>C (p.Thr633Pro)
c.2128A>C (p.Thr710Pro)
c.1543A>C (p.Thr515Pro)
c.1645A>C (p.Thr549Pro)
15g.50490506A>GCA7555911USP8c.2215A>G (p.Thr739Ala)
c.1897A>G (p.Thr633Ala)
c.2128A>G (p.Thr710Ala)
c.1543A>G (p.Thr515Ala)
c.1645A>G (p.Thr549Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490506A>TCA392399375USP8c.2215A>T (p.Thr739Ser)
c.1897A>T (p.Thr633Ser)
c.2128A>T (p.Thr710Ser)
c.1543A>T (p.Thr515Ser)
c.1645A>T (p.Thr549Ser)
15g.50490507C>ACA270503539USP8c.2216C>A (p.Thr739Lys)
c.1898C>A (p.Thr633Lys)
c.2129C>A (p.Thr710Lys)
c.1544C>A (p.Thr515Lys)
c.1646C>A (p.Thr549Lys)
dbSNP gnomAD v2 gnomAD v4
15g.50490507C=CA2176424941USP8c.2216C= (p.Thr739=)
c.1898C= (p.Thr633=)
c.2129C= (p.Thr710=)
c.1544C= (p.Thr515=)
c.1646C= (p.Thr549=)
15g.50490507C>GCA392399378USP8c.2216C>G (p.Thr739Arg)
c.1898C>G (p.Thr633Arg)
c.2129C>G (p.Thr710Arg)
c.1544C>G (p.Thr515Arg)
c.1646C>G (p.Thr549Arg)
15g.50490507C>TCA392399379USP8c.2216C>T (p.Thr739Ile)
c.1898C>T (p.Thr633Ile)
c.2129C>T (p.Thr710Ile)
c.1544C>T (p.Thr515Ile)
c.1646C>T (p.Thr549Ile)
15g.50490508A>CCA490561931USP8c.2217A>C (p.Thr739=)
c.1899A>C (p.Thr633=)
c.2130A>C (p.Thr710=)
c.1545A>C (p.Thr515=)
c.1647A>C (p.Thr549=)
15g.50490508A>GCA490561932USP8c.2217A>G (p.Thr739=)
c.1899A>G (p.Thr633=)
c.2130A>G (p.Thr710=)
c.1545A>G (p.Thr515=)
c.1647A>G (p.Thr549=)
15g.50490508A>TCA490561933USP8c.2217A>T (p.Thr739=)
c.1899A>T (p.Thr633=)
c.2130A>T (p.Thr710=)
c.1545A>T (p.Thr515=)
c.1647A>T (p.Thr549=)
15g.50490509G>ACA270503549USP8c.2218G>A (p.Val740Ile)
c.1900G>A (p.Val634Ile)
c.2131G>A (p.Val711Ile)
c.1546G>A (p.Val516Ile)
c.1648G>A (p.Val550Ile)
dbSNP
15g.50490509G>CCA7555912USP8c.2218G>C (p.Val740Leu)
c.1900G>C (p.Val634Leu)
c.2131G>C (p.Val711Leu)
c.1546G>C (p.Val516Leu)
c.1648G>C (p.Val550Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490509G=CA2176424942USP8c.2218G= (p.Val740=)
c.1900G= (p.Val634=)
c.2131G= (p.Val711=)
c.1546G= (p.Val516=)
c.1648G= (p.Val550=)
15g.50490509G>TCA392399381USP8c.2218G>T (p.Val740Phe)
c.1900G>T (p.Val634Phe)
c.2131G>T (p.Val711Phe)
c.1546G>T (p.Val516Phe)
c.1648G>T (p.Val550Phe)
15g.50490510T>ACA392399385USP8c.2219T>A (p.Val740Asp)
c.1901T>A (p.Val634Asp)
c.2132T>A (p.Val711Asp)
c.1547T>A (p.Val516Asp)
c.1649T>A (p.Val550Asp)
15g.50490510T>CCA392399388USP8c.2219T>C (p.Val740Ala)
c.1901T>C (p.Val634Ala)
c.2132T>C (p.Val711Ala)
c.1547T>C (p.Val516Ala)
c.1649T>C (p.Val550Ala)
15g.50490510T>GCA392399386USP8c.2219T>G (p.Val740Gly)
c.1901T>G (p.Val634Gly)
c.2132T>G (p.Val711Gly)
c.1547T>G (p.Val516Gly)
c.1649T>G (p.Val550Gly)
15g.50490511T>ACA490561934USP8c.2220T>A (p.Val740=)
c.1902T>A (p.Val634=)
c.2133T>A (p.Val711=)
c.1548T>A (p.Val516=)
c.1650T>A (p.Val550=)
gnomAD v4
15g.50490511T>CCA490561935USP8c.2220T>C (p.Val740=)
c.1902T>C (p.Val634=)
c.2133T>C (p.Val711=)
c.1548T>C (p.Val516=)
c.1650T>C (p.Val550=)
15g.50490511T>GCA490561936USP8c.2220T>G (p.Val740=)
c.1902T>G (p.Val634=)
c.2133T>G (p.Val711=)
c.1548T>G (p.Val516=)
c.1650T>G (p.Val550=)
15g.50490512A>CCA392399390USP8c.2221A>C (p.Asn741His)
c.1903A>C (p.Asn635His)
c.2134A>C (p.Asn712His)
c.1549A>C (p.Asn517His)
c.1651A>C (p.Asn551His)
15g.50490512A>GCA392399391USP8c.2221A>G (p.Asn741Asp)
c.1903A>G (p.Asn635Asp)
c.2134A>G (p.Asn712Asp)
c.1549A>G (p.Asn517Asp)
c.1651A>G (p.Asn551Asp)
15g.50490512A>TCA392399393USP8c.2221A>T (p.Asn741Tyr)
c.1903A>T (p.Asn635Tyr)
c.2134A>T (p.Asn712Tyr)
c.1549A>T (p.Asn517Tyr)
c.1651A>T (p.Asn551Tyr)
15g.50490513A>CCA392399394USP8c.2222A>C (p.Asn741Thr)
c.1904A>C (p.Asn635Thr)
c.2135A>C (p.Asn712Thr)
c.1550A>C (p.Asn517Thr)
c.1652A>C (p.Asn551Thr)
15g.50490513A>GCA392399396USP8c.2222A>G (p.Asn741Ser)
c.1904A>G (p.Asn635Ser)
c.2135A>G (p.Asn712Ser)
c.1550A>G (p.Asn517Ser)
c.1652A>G (p.Asn551Ser)
15g.50490513A>TCA392399398USP8c.2222A>T (p.Asn741Ile)
c.1904A>T (p.Asn635Ile)
c.2135A>T (p.Asn712Ile)
c.1550A>T (p.Asn517Ile)
c.1652A>T (p.Asn551Ile)
15g.50490514T>ACA392399400USP8c.2223T>A (p.Asn741Lys)
c.1905T>A (p.Asn635Lys)
c.2136T>A (p.Asn712Lys)
c.1551T>A (p.Asn517Lys)
c.1653T>A (p.Asn551Lys)
15g.50490514T>CCA490561937USP8c.2223T>C (p.Asn741=)
c.1905T>C (p.Asn635=)
c.2136T>C (p.Asn712=)
c.1551T>C (p.Asn517=)
c.1653T>C (p.Asn551=)
15g.50490514T>GCA392399402USP8c.2223T>G (p.Asn741Lys)
c.1905T>G (p.Asn635Lys)
c.2136T>G (p.Asn712Lys)
c.1551T>G (p.Asn517Lys)
c.1653T>G (p.Asn551Lys)
15g.50490515C>ACA490561938USP8c.2224C>A (p.Arg742=)
c.1906C>A (p.Arg636=)
c.2137C>A (p.Arg713=)
c.1552C>A (p.Arg518=)
c.1654C>A (p.Arg552=)
15g.50490515C=CA2176424943USP8c.2224C= (p.Arg742=)
c.1906C= (p.Arg636=)
c.2137C= (p.Arg713=)
c.1552C= (p.Arg518=)
c.1654C= (p.Arg552=)
15g.50490515C>GCA392399404USP8c.2224C>G (p.Arg742Gly)
c.1906C>G (p.Arg636Gly)
c.2137C>G (p.Arg713Gly)
c.1552C>G (p.Arg518Gly)
c.1654C>G (p.Arg552Gly)
15g.50490515C>TCA7555913USP8c.2224C>T (p.Arg742Trp)
c.1906C>T (p.Arg636Trp)
c.2137C>T (p.Arg713Trp)
c.1552C>T (p.Arg518Trp)
c.1654C>T (p.Arg552Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched