Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
15g.50490516G>ACA392399407USP8c.2225G>A (p.Arg742Gln)
c.1907G>A (p.Arg636Gln)
c.2138G>A (p.Arg713Gln)
c.1553G>A (p.Arg518Gln)
c.1655G>A (p.Arg552Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50490516G>CCA7555914USP8c.2225G>C (p.Arg742Pro)
c.1907G>C (p.Arg636Pro)
c.2138G>C (p.Arg713Pro)
c.1553G>C (p.Arg518Pro)
c.1655G>C (p.Arg552Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490516G=CA2176424944USP8c.2225G= (p.Arg742=)
c.1907G= (p.Arg636=)
c.2138G= (p.Arg713=)
c.1553G= (p.Arg518=)
c.1655G= (p.Arg552=)
15g.50490516G>TCA392399410USP8c.2225G>T (p.Arg742Leu)
c.1907G>T (p.Arg636Leu)
c.2138G>T (p.Arg713Leu)
c.1553G>T (p.Arg518Leu)
c.1655G>T (p.Arg552Leu)
 dbSNP COSMIC
15g.50490517G>ACA490561939USP8c.2226G>A (p.Arg742=)
c.1908G>A (p.Arg636=)
c.2139G>A (p.Arg713=)
c.1554G>A (p.Arg518=)
c.1656G>A (p.Arg552=)
15g.50490517G>CCA490561940USP8c.2226G>C (p.Arg742=)
c.1908G>C (p.Arg636=)
c.2139G>C (p.Arg713=)
c.1554G>C (p.Arg518=)
c.1656G>C (p.Arg552=)
15g.50490517G>TCA490561941USP8c.2226G>T (p.Arg742=)
c.1908G>T (p.Arg636=)
c.2139G>T (p.Arg713=)
c.1554G>T (p.Arg518=)
c.1656G>T (p.Arg552=)
15g.50490518G>ACA392399415USP8c.2227G>A (p.Glu743Lys)
c.1909G>A (p.Glu637Lys)
c.2140G>A (p.Glu714Lys)
c.1555G>A (p.Glu519Lys)
c.1657G>A (p.Glu553Lys)
 dbSNP
15g.50490518G>CCA392399414USP8c.2227G>C (p.Glu743Gln)
c.1909G>C (p.Glu637Gln)
c.2140G>C (p.Glu714Gln)
c.1555G>C (p.Glu519Gln)
c.1657G>C (p.Glu553Gln)
 gnomAD v4
15g.50490518G>TCA392399412USP8c.2227G>T (p.Glu743Ter)
c.1909G>T (p.Glu637Ter)
c.2140G>T (p.Glu714Ter)
c.1555G>T (p.Glu519Ter)
c.1657G>T (p.Glu553Ter)
15g.50490519A>CCA392399417USP8c.2228A>C (p.Glu743Ala)
c.1910A>C (p.Glu637Ala)
c.2141A>C (p.Glu714Ala)
c.1556A>C (p.Glu519Ala)
c.1658A>C (p.Glu553Ala)
15g.50490519A>GCA392399419USP8c.2228A>G (p.Glu743Gly)
c.1910A>G (p.Glu637Gly)
c.2141A>G (p.Glu714Gly)
c.1556A>G (p.Glu519Gly)
c.1658A>G (p.Glu553Gly)
15g.50490519A>TCA392399421USP8c.2228A>T (p.Glu743Val)
c.1910A>T (p.Glu637Val)
c.2141A>T (p.Glu714Val)
c.1556A>T (p.Glu519Val)
c.1658A>T (p.Glu553Val)
15g.50490520A>CCA392399422USP8c.2229A>C (p.Glu743Asp)
c.1911A>C (p.Glu637Asp)
c.2142A>C (p.Glu714Asp)
c.1557A>C (p.Glu519Asp)
c.1659A>C (p.Glu553Asp)
15g.50490520A>GCA490561942USP8c.2229A>G (p.Glu743=)
c.1911A>G (p.Glu637=)
c.2142A>G (p.Glu714=)
c.1557A>G (p.Glu519=)
c.1659A>G (p.Glu553=)
 dbSNP gnomAD v4
15g.50490520A>TCA392399424USP8c.2229A>T (p.Glu743Asp)
c.1911A>T (p.Glu637Asp)
c.2142A>T (p.Glu714Asp)
c.1557A>T (p.Glu519Asp)
c.1659A>T (p.Glu553Asp)
15g.50490521A=CA2176424945USP8c.2230A= (p.Asn744=)
c.1912A= (p.Asn638=)
c.2143A= (p.Asn715=)
c.1558A= (p.Asn520=)
c.1660A= (p.Asn554=)
15g.50490521A>CCA392399425USP8c.2230A>C (p.Asn744His)
c.1912A>C (p.Asn638His)
c.2143A>C (p.Asn715His)
c.1558A>C (p.Asn520His)
c.1660A>C (p.Asn554His)
 gnomAD v4
15g.50490521A>GCA392399426USP8c.2230A>G (p.Asn744Asp)
c.1912A>G (p.Asn638Asp)
c.2143A>G (p.Asn715Asp)
c.1558A>G (p.Asn520Asp)
c.1660A>G (p.Asn554Asp)
 dbSNP
15g.50490521A>TCA392399427USP8c.2230A>T (p.Asn744Tyr)
c.1912A>T (p.Asn638Tyr)
c.2143A>T (p.Asn715Tyr)
c.1558A>T (p.Asn520Tyr)
c.1660A>T (p.Asn554Tyr)
15g.50490522A>CCA392399428USP8c.2231A>C (p.Asn744Thr)
c.1913A>C (p.Asn638Thr)
c.2144A>C (p.Asn715Thr)
c.1559A>C (p.Asn520Thr)
c.1661A>C (p.Asn554Thr)
15g.50490522A>GCA392399429USP8c.2231A>G (p.Asn744Ser)
c.1913A>G (p.Asn638Ser)
c.2144A>G (p.Asn715Ser)
c.1559A>G (p.Asn520Ser)
c.1661A>G (p.Asn554Ser)
 COSMIC
15g.50490522A>TCA392399431USP8c.2231A>T (p.Asn744Ile)
c.1913A>T (p.Asn638Ile)
c.2144A>T (p.Asn715Ile)
c.1559A>T (p.Asn520Ile)
c.1661A>T (p.Asn554Ile)
15g.50490523C>ACA392399433USP8c.2232C>A (p.Asn744Lys)
c.1914C>A (p.Asn638Lys)
c.2145C>A (p.Asn715Lys)
c.1560C>A (p.Asn520Lys)
c.1662C>A (p.Asn554Lys)
15g.50490523C>GCA392399435USP8c.2232C>G (p.Asn744Lys)
c.1914C>G (p.Asn638Lys)
c.2145C>G (p.Asn715Lys)
c.1560C>G (p.Asn520Lys)
c.1662C>G (p.Asn554Lys)
 gnomAD v4
15g.50490523C>TCA490561943USP8c.2232C>T (p.Asn744=)
c.1914C>T (p.Asn638=)
c.2145C>T (p.Asn715=)
c.1560C>T (p.Asn520=)
c.1662C>T (p.Asn554=)
15g.50490524A>CCA392399437USP8c.2233A>C (p.Lys745Gln)
c.1915A>C (p.Lys639Gln)
c.2146A>C (p.Lys716Gln)
c.1561A>C (p.Lys521Gln)
c.1663A>C (p.Lys555Gln)
15g.50490524A>GCA392399438USP8c.2233A>G (p.Lys745Glu)
c.1915A>G (p.Lys639Glu)
c.2146A>G (p.Lys716Glu)
c.1561A>G (p.Lys521Glu)
c.1663A>G (p.Lys555Glu)
15g.50490524A>TCA392399436USP8c.2233A>T (p.Lys745Ter)
c.1915A>T (p.Lys639Ter)
c.2146A>T (p.Lys716Ter)
c.1561A>T (p.Lys521Ter)
c.1663A>T (p.Lys555Ter)
15g.50490525A>CCA392399439USP8c.2234A>C (p.Lys745Thr)
c.1916A>C (p.Lys639Thr)
c.2147A>C (p.Lys716Thr)
c.1562A>C (p.Lys521Thr)
c.1664A>C (p.Lys555Thr)
15g.50490525A>GCA392399441USP8c.2234A>G (p.Lys745Arg)
c.1916A>G (p.Lys639Arg)
c.2147A>G (p.Lys716Arg)
c.1562A>G (p.Lys521Arg)
c.1664A>G (p.Lys555Arg)
 gnomAD v4
15g.50490525A>TCA392399443USP8c.2234A>T (p.Lys745Met)
c.1916A>T (p.Lys639Met)
c.2147A>T (p.Lys716Met)
c.1562A>T (p.Lys521Met)
c.1664A>T (p.Lys555Met)
15g.50490526G>ACA392399445USP8c.2234+1G>A (n.2234+1G>A)
c.1916+1G>A (n.1916+1G>A)
c.2147+1G>A (n.2147+1G>A)
c.1562+1G>A (n.1562+1G>A)
c.1664+1G>A (n.1664+1G>A)
15g.50490526G>CCA392399446USP8c.2234+1G>C (n.2234+1G>C)
c.1916+1G>C (n.1916+1G>C)
c.2147+1G>C (n.2147+1G>C)
c.1562+1G>C (n.1562+1G>C)
c.1664+1G>C (n.1664+1G>C)
15g.50490526G>TCA392399448USP8c.2234+1G>T (n.2234+1G>T)
c.1916+1G>T (n.1916+1G>T)
c.2147+1G>T (n.2147+1G>T)
c.1562+1G>T (n.1562+1G>T)
c.1664+1G>T (n.1664+1G>T)
15g.50490527T>ACA392399449USP8c.2234+2T>A (n.2234+2T>A)
c.1916+2T>A (n.1916+2T>A)
c.2147+2T>A (n.2147+2T>A)
c.1562+2T>A (n.1562+2T>A)
c.1664+2T>A (n.1664+2T>A)
15g.50490527T>CCA392399450USP8c.2234+2T>C (n.2234+2T>C)
c.1916+2T>C (n.1916+2T>C)
c.2147+2T>C (n.2147+2T>C)
c.1562+2T>C (n.1562+2T>C)
c.1664+2T>C (n.1664+2T>C)
15g.50490527T>GCA392399452USP8c.2234+2T>G (n.2234+2T>G)
c.1916+2T>G (n.1916+2T>G)
c.2147+2T>G (n.2147+2T>G)
c.1562+2T>G (n.1562+2T>G)
c.1664+2T>G (n.1664+2T>G)
15g.50490528A>GCA2628415154USP8c.2234+3A>G (n.2234+3A>G)
c.1916+3A>G (n.1916+3A>G)
c.2147+3A>G (n.2147+3A>G)
c.1562+3A>G (n.1562+3A>G)
c.1664+3A>G (n.1664+3A>G)
 gnomAD v4
15g.50490532_50490533insGGAGGGGTGGAAGGAGGCA2730876572USP8c.2234+7_2234+8insGGAGGGGTGGAAGGAGG (n.2234+7_2234+8insGGAGGGGTGGAAGGAGG)
c.1916+7_1916+8insGGAGGGGTGGAAGGAGG (n.1916+7_1916+8insGGAGGGGTGGAAGGAGG)
c.2147+7_2147+8insGGAGGGGTGGAAGGAGG (n.2147+7_2147+8insGGAGGGGTGGAAGGAGG)
c.1562+7_1562+8insGGAGGGGTGGAAGGAGG (n.1562+7_1562+8insGGAGGGGTGGAAGGAGG)
c.1664+7_1664+8insGGAGGGGTGGAAGGAGG (n.1664+7_1664+8insGGAGGGGTGGAAGGAGG)
 dbSNP
15g.50490534A=CA2176424946USP8c.2234+9A= (n.2234+9A=)
c.1916+9A= (n.1916+9A=)
c.2147+9A= (n.2147+9A=)
c.1562+9A= (n.1562+9A=)
c.1664+9A= (n.1664+9A=)
15g.50490534A>GCA2176424947USP8c.2234+9A>G (n.2234+9A>G)
c.1916+9A>G (n.1916+9A>G)
c.2147+9A>G (n.2147+9A>G)
c.1562+9A>G (n.1562+9A>G)
c.1664+9A>G (n.1664+9A>G)
 dbSNP
15g.50490535T>ACA7555915USP8c.2234+10T>A (n.2234+10T>A)
c.1916+10T>A (n.1916+10T>A)
c.2147+10T>A (n.2147+10T>A)
c.1562+10T>A (n.1562+10T>A)
c.1664+10T>A (n.1664+10T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490535T>CCA270503570USP8c.2234+10T>C (n.2234+10T>C)
c.1916+10T>C (n.1916+10T>C)
c.2147+10T>C (n.2147+10T>C)
c.1562+10T>C (n.1562+10T>C)
c.1664+10T>C (n.1664+10T>C)
 dbSNP
15g.50490535T=CA2176424948USP8c.2234+10T= (n.2234+10T=)
c.1916+10T= (n.1916+10T=)
c.2147+10T= (n.2147+10T=)
c.1562+10T= (n.1562+10T=)
c.1664+10T= (n.1664+10T=)
15g.50490537T>CCA2628415155USP8c.2234+12T>C (n.2234+12T>C)
c.1916+12T>C (n.1916+12T>C)
c.2147+12T>C (n.2147+12T>C)
c.1562+12T>C (n.1562+12T>C)
c.1664+12T>C (n.1664+12T>C)
 gnomAD v4
15g.50490537T>GCA7555916USP8c.2234+12T>G (n.2234+12T>G)
c.1916+12T>G (n.1916+12T>G)
c.2147+12T>G (n.2147+12T>G)
c.1562+12T>G (n.1562+12T>G)
c.1664+12T>G (n.1664+12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490537T=CA2176424949USP8c.2234+12T= (n.2234+12T=)
c.1916+12T= (n.1916+12T=)
c.2147+12T= (n.2147+12T=)
c.1562+12T= (n.1562+12T=)
c.1664+12T= (n.1664+12T=)
15g.50490538T>CCA2628415156USP8c.2234+13T>C (n.2234+13T>C)
c.1916+13T>C (n.1916+13T>C)
c.2147+13T>C (n.2147+13T>C)
c.1562+13T>C (n.1562+13T>C)
c.1664+13T>C (n.1664+13T>C)
 gnomAD v4
15g.50490538T>GCA7555917USP8c.2234+13T>G (n.2234+13T>G)
c.1916+13T>G (n.1916+13T>G)
c.2147+13T>G (n.2147+13T>G)
c.1562+13T>G (n.1562+13T>G)
c.1664+13T>G (n.1664+13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490538T=CA2176424950USP8c.2234+13T= (n.2234+13T=)
c.1916+13T= (n.1916+13T=)
c.2147+13T= (n.2147+13T=)
c.1562+13T= (n.1562+13T=)
c.1664+13T= (n.1664+13T=)
15g.50490541C=CA2176424951USP8c.2234+16C= (n.2234+16C=)
c.1916+16C= (n.1916+16C=)
c.2147+16C= (n.2147+16C=)
c.1562+16C= (n.1562+16C=)
c.1664+16C= (n.1664+16C=)
15g.50490541C>TCA618010486USP8c.2234+16C>T (n.2234+16C>T)
c.1916+16C>T (n.1916+16C>T)
c.2147+16C>T (n.2147+16C>T)
c.1562+16C>T (n.1562+16C>T)
c.1664+16C>T (n.1664+16C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.50490542T>CCA7555918USP8c.2234+17T>C (n.2234+17T>C)
c.1916+17T>C (n.1916+17T>C)
c.2147+17T>C (n.2147+17T>C)
c.1562+17T>C (n.1562+17T>C)
c.1664+17T>C (n.1664+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490542T=CA2176424952USP8c.2234+17T= (n.2234+17T=)
c.1916+17T= (n.1916+17T=)
c.2147+17T= (n.2147+17T=)
c.1562+17T= (n.1562+17T=)
c.1664+17T= (n.1664+17T=)
15g.50490543C=CA2176424953USP8c.2234+18C= (n.2234+18C=)
c.1916+18C= (n.1916+18C=)
c.2147+18C= (n.2147+18C=)
c.1562+18C= (n.1562+18C=)
c.1664+18C= (n.1664+18C=)
15g.50490543C>TCA7555919USP8c.2234+18C>T (n.2234+18C>T)
c.1916+18C>T (n.1916+18C>T)
c.2147+18C>T (n.2147+18C>T)
c.1562+18C>T (n.1562+18C>T)
c.1664+18C>T (n.1664+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490544C>TCA2628415157USP8c.2234+19C>T (n.2234+19C>T)
c.1916+19C>T (n.1916+19C>T)
c.2147+19C>T (n.2147+19C>T)
c.1562+19C>T (n.1562+19C>T)
c.1664+19C>T (n.1664+19C>T)
 gnomAD v4
15g.50490547G>ACA2628415158USP8c.2234+22G>A (n.2234+22G>A)
c.1916+22G>A (n.1916+22G>A)
c.2147+22G>A (n.2147+22G>A)
c.1562+22G>A (n.1562+22G>A)
c.1664+22G>A (n.1664+22G>A)
 dbSNP gnomAD v4
15g.50490548A>CCA2628415159USP8c.2234+23A>C (n.2234+23A>C)
c.1916+23A>C (n.1916+23A>C)
c.2147+23A>C (n.2147+23A>C)
c.1562+23A>C (n.1562+23A>C)
c.1664+23A>C (n.1664+23A>C)
 gnomAD v4
15g.50490551T>ACA7555920USP8c.2234+26T>A (n.2234+26T>A)
c.1916+26T>A (n.1916+26T>A)
c.2147+26T>A (n.2147+26T>A)
c.1562+26T>A (n.1562+26T>A)
c.1664+26T>A (n.1664+26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490551T>CCA7555921USP8c.2234+26T>C (n.2234+26T>C)
c.1916+26T>C (n.1916+26T>C)
c.2147+26T>C (n.2147+26T>C)
c.1562+26T>C (n.1562+26T>C)
c.1664+26T>C (n.1664+26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490551T=CA2176424954USP8c.2234+26T= (n.2234+26T=)
c.1916+26T= (n.1916+26T=)
c.2147+26T= (n.2147+26T=)
c.1562+26T= (n.1562+26T=)
c.1664+26T= (n.1664+26T=)
15g.50490556T>CCA7555922USP8c.2234+31T>C (n.2234+31T>C)
c.1916+31T>C (n.1916+31T>C)
c.2147+31T>C (n.2147+31T>C)
c.1562+31T>C (n.1562+31T>C)
c.1664+31T>C (n.1664+31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490556T=CA2176424955USP8c.2234+31T= (n.2234+31T=)
c.1916+31T= (n.1916+31T=)
c.2147+31T= (n.2147+31T=)
c.1562+31T= (n.1562+31T=)
c.1664+31T= (n.1664+31T=)
15g.50490558A=CA2176424956USP8c.2234+33A= (n.2234+33A=)
c.1916+33A= (n.1916+33A=)
c.2147+33A= (n.2147+33A=)
c.1562+33A= (n.1562+33A=)
c.1664+33A= (n.1664+33A=)
15g.50490558A>CCA618010487USP8c.2234+33A>C (n.2234+33A>C)
c.1916+33A>C (n.1916+33A>C)
c.2147+33A>C (n.2147+33A>C)
c.1562+33A>C (n.1562+33A>C)
c.1664+33A>C (n.1664+33A>C)
 dbSNP gnomAD v2
15g.50490558A>GCA7555923USP8c.2234+33A>G (n.2234+33A>G)
c.1916+33A>G (n.1916+33A>G)
c.2147+33A>G (n.2147+33A>G)
c.1562+33A>G (n.1562+33A>G)
c.1664+33A>G (n.1664+33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490559T>ACA713552820USP8c.2234+34T>A (n.2234+34T>A)
c.1916+34T>A (n.1916+34T>A)
c.2147+34T>A (n.2147+34T>A)
c.1562+34T>A (n.1562+34T>A)
c.1664+34T>A (n.1664+34T>A)
 dbSNP gnomAD v3 gnomAD v4
15g.50490559T>CCA2628415160USP8c.2234+34T>C (n.2234+34T>C)
c.1916+34T>C (n.1916+34T>C)
c.2147+34T>C (n.2147+34T>C)
c.1562+34T>C (n.1562+34T>C)
c.1664+34T>C (n.1664+34T>C)
 gnomAD v4
15g.50490559T=CA2176424957USP8c.2234+34T= (n.2234+34T=)
c.1916+34T= (n.1916+34T=)
c.2147+34T= (n.2147+34T=)
c.1562+34T= (n.1562+34T=)
c.1664+34T= (n.1664+34T=)
15g.50490560G>ACA2628415161USP8c.2234+35G>A (n.2234+35G>A)
c.1916+35G>A (n.1916+35G>A)
c.2147+35G>A (n.2147+35G>A)
c.1562+35G>A (n.1562+35G>A)
c.1664+35G>A (n.1664+35G>A)
 gnomAD v4
15g.50490562G>CCA2575722738USP8c.2234+37G>C (n.2234+37G>C)
c.1916+37G>C (n.1916+37G>C)
c.2147+37G>C (n.2147+37G>C)
c.1562+37G>C (n.1562+37G>C)
c.1664+37G>C (n.1664+37G>C)
15g.50490563C=CA2176424958USP8c.2234+38C= (n.2234+38C=)
c.1916+38C= (n.1916+38C=)
c.2147+38C= (n.2147+38C=)
c.1562+38C= (n.1562+38C=)
c.1664+38C= (n.1664+38C=)
15g.50490563C>GCA618010488USP8c.2234+38C>G (n.2234+38C>G)
c.1916+38C>G (n.1916+38C>G)
c.2147+38C>G (n.2147+38C>G)
c.1562+38C>G (n.1562+38C>G)
c.1664+38C>G (n.1664+38C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490563C>TCA2730608597USP8c.2234+38C>T (n.2234+38C>T)
c.1916+38C>T (n.1916+38C>T)
c.2147+38C>T (n.2147+38C>T)
c.1562+38C>T (n.1562+38C>T)
c.1664+38C>T (n.1664+38C>T)
 dbSNP
15g.50490565G>ACA2176424960USP8c.2234+40G>A (n.2234+40G>A)
c.1916+40G>A (n.1916+40G>A)
c.2147+40G>A (n.2147+40G>A)
c.1562+40G>A (n.1562+40G>A)
c.1664+40G>A (n.1664+40G>A)
 dbSNP
15g.50490565G=CA2176424959USP8c.2234+40G= (n.2234+40G=)
c.1916+40G= (n.1916+40G=)
c.2147+40G= (n.2147+40G=)
c.1562+40G= (n.1562+40G=)
c.1664+40G= (n.1664+40G=)
15g.50490567A>GCA2628415162USP8c.2234+42A>G (n.2234+42A>G)
c.1916+42A>G (n.1916+42A>G)
c.2147+42A>G (n.2147+42A>G)
c.1562+42A>G (n.1562+42A>G)
c.1664+42A>G (n.1664+42A>G)
 gnomAD v4
15g.50490569T>CCA713552828USP8c.2234+44T>C (n.2234+44T>C)
c.1916+44T>C (n.1916+44T>C)
c.2147+44T>C (n.2147+44T>C)
c.1562+44T>C (n.1562+44T>C)
c.1664+44T>C (n.1664+44T>C)
 dbSNP gnomAD v3 gnomAD v4
15g.50490569T=CA2176424961USP8c.2234+44T= (n.2234+44T=)
c.1916+44T= (n.1916+44T=)
c.2147+44T= (n.2147+44T=)
c.1562+44T= (n.1562+44T=)
c.1664+44T= (n.1664+44T=)
15g.50490571_50490572delinsCACA2176424962USP8c.2234+46_2234+47delinsCA (n.2234+46_2234+47delinsCA)
c.1916+46_1916+47delinsCA (n.1916+46_1916+47delinsCA)
c.2147+46_2147+47delinsCA (n.2147+46_2147+47delinsCA)
c.1562+46_1562+47delinsCA (n.1562+46_1562+47delinsCA)
c.1664+46_1664+47delinsCA (n.1664+46_1664+47delinsCA)
15g.50490572A=CA2176424964USP8c.2234+47A= (n.2234+47A=)
c.1916+47A= (n.1916+47A=)
c.2147+47A= (n.2147+47A=)
c.1562+47A= (n.1562+47A=)
c.1664+47A= (n.1664+47A=)
15g.50490572A>GCA618010489USP8c.2234+47A>G (n.2234+47A>G)
c.1916+47A>G (n.1916+47A>G)
c.2147+47A>G (n.2147+47A>G)
c.1562+47A>G (n.1562+47A>G)
c.1664+47A>G (n.1664+47A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490574delCA2176424963USP8c.2234+49del (n.2234+49del)
c.1916+49del (n.1916+49del)
c.2147+49del (n.2147+49del)
c.1562+49del (n.1562+49del)
c.1664+49del (n.1664+49del)
 dbSNP
15g.50490573A=CA2176424965USP8c.2234+48A= (n.2234+48A=)
c.1916+48A= (n.1916+48A=)
c.2147+48A= (n.2147+48A=)
c.1562+48A= (n.1562+48A=)
c.1664+48A= (n.1664+48A=)
15g.50490573A>CCA2575722739USP8c.2234+48A>C (n.2234+48A>C)
c.1916+48A>C (n.1916+48A>C)
c.2147+48A>C (n.2147+48A>C)
c.1562+48A>C (n.1562+48A>C)
c.1664+48A>C (n.1664+48A>C)
 gnomAD v4
15g.50490573A>GCA7555924USP8c.2234+48A>G (n.2234+48A>G)
c.1916+48A>G (n.1916+48A>G)
c.2147+48A>G (n.2147+48A>G)
c.1562+48A>G (n.1562+48A>G)
c.1664+48A>G (n.1664+48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490573A>TCA2628415163USP8c.2234+48A>T (n.2234+48A>T)
c.1916+48A>T (n.1916+48A>T)
c.2147+48A>T (n.2147+48A>T)
c.1562+48A>T (n.1562+48A>T)
c.1664+48A>T (n.1664+48A>T)
 gnomAD v4
15g.50490575G>ACA2730609036USP8c.2234+50G>A (n.2234+50G>A)
c.1916+50G>A (n.1916+50G>A)
c.2147+50G>A (n.2147+50G>A)
c.1562+50G>A (n.1562+50G>A)
c.1664+50G>A (n.1664+50G>A)
 dbSNP
15g.50490575G=CA2176424966USP8c.2234+50G= (n.2234+50G=)
c.1916+50G= (n.1916+50G=)
c.2147+50G= (n.2147+50G=)
c.1562+50G= (n.1562+50G=)
c.1664+50G= (n.1664+50G=)
15g.50490575G>TCA618010490USP8c.2234+50G>T (n.2234+50G>T)
c.1916+50G>T (n.1916+50G>T)
c.2147+50G>T (n.2147+50G>T)
c.1562+50G>T (n.1562+50G>T)
c.1664+50G>T (n.1664+50G>T)
 dbSNP gnomAD v2 gnomAD v4
15g.50490579C>ACA2628415164USP8c.2234+54C>A (n.2234+54C>A)
c.1916+54C>A (n.1916+54C>A)
c.2147+54C>A (n.2147+54C>A)
c.1562+54C>A (n.1562+54C>A)
c.1664+54C>A (n.1664+54C>A)
 gnomAD v4
15g.50490579C>TCA2628415165USP8c.2234+54C>T (n.2234+54C>T)
c.1916+54C>T (n.1916+54C>T)
c.2147+54C>T (n.2147+54C>T)
c.1562+54C>T (n.1562+54C>T)
c.1664+54C>T (n.1664+54C>T)
 gnomAD v4
15g.50490580T>CCA2628415166USP8c.2234+55T>C (n.2234+55T>C)
c.1916+55T>C (n.1916+55T>C)
c.2147+55T>C (n.2147+55T>C)
c.1562+55T>C (n.1562+55T>C)
c.1664+55T>C (n.1664+55T>C)
 gnomAD v4
15g.50490581A>CCA2628415167USP8c.2234+56A>C (n.2234+56A>C)
c.1916+56A>C (n.1916+56A>C)
c.2147+56A>C (n.2147+56A>C)
c.1562+56A>C (n.1562+56A>C)
c.1664+56A>C (n.1664+56A>C)
 dbSNP gnomAD v4
15g.50490581A>GCA2628415168USP8c.2234+56A>G (n.2234+56A>G)
c.1916+56A>G (n.1916+56A>G)
c.2147+56A>G (n.2147+56A>G)
c.1562+56A>G (n.1562+56A>G)
c.1664+56A>G (n.1664+56A>G)
 gnomAD v4
15g.50490582C>ACA2628415169USP8c.2234+57C>A (n.2234+57C>A)
c.1916+57C>A (n.1916+57C>A)
c.2147+57C>A (n.2147+57C>A)
c.1562+57C>A (n.1562+57C>A)
c.1664+57C>A (n.1664+57C>A)
 gnomAD v4
15g.50490582C>GCA2628415170USP8c.2234+57C>G (n.2234+57C>G)
c.1916+57C>G (n.1916+57C>G)
c.2147+57C>G (n.2147+57C>G)
c.1562+57C>G (n.1562+57C>G)
c.1664+57C>G (n.1664+57C>G)
 gnomAD v4

Number of alleles fetched