Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47206035G>ACA412801639UBA1c.1663G>A (p.Asp555Asn)
n.465-43G>A
c.1681G>A (p.Asp561Asn)
c.1747G>A (p.Asp583Asn)
c.1705G>A (p.Asp569Asn)
n.216-685C>T
c.1816G>A (p.Asp606Asn)
n.284-685C>T
Xg.47206035G>CCA412801642UBA1c.1663G>C (p.Asp555His)
n.465-43G>C
c.1681G>C (p.Asp561His)
c.1747G>C (p.Asp583His)
c.1705G>C (p.Asp569His)
n.216-685C>G
c.1816G>C (p.Asp606His)
n.284-685C>G
Xg.47206035G>TCA412801648UBA1c.1663G>T (p.Asp555Tyr)
n.465-43G>T
c.1681G>T (p.Asp561Tyr)
c.1747G>T (p.Asp583Tyr)
c.1705G>T (p.Asp569Tyr)
n.216-685C>A
c.1816G>T (p.Asp606Tyr)
n.284-685C>A
 gnomAD v4
Xg.47206036A>CCA412801657UBA1c.1664A>C (p.Asp555Ala)
n.465-42A>C
c.1682A>C (p.Asp561Ala)
c.1748A>C (p.Asp583Ala)
c.1706A>C (p.Asp569Ala)
n.216-686T>G
c.1817A>C (p.Asp606Ala)
n.284-686T>G
Xg.47206036A>GCA412801651UBA1c.1664A>G (p.Asp555Gly)
n.465-42A>G
c.1682A>G (p.Asp561Gly)
c.1748A>G (p.Asp583Gly)
c.1706A>G (p.Asp569Gly)
n.216-686T>C
c.1817A>G (p.Asp606Gly)
n.284-686T>C
Xg.47206036A>TCA412801654UBA1c.1664A>T (p.Asp555Val)
n.465-42A>T
c.1682A>T (p.Asp561Val)
c.1748A>T (p.Asp583Val)
c.1706A>T (p.Asp569Val)
n.216-686T>A
c.1817A>T (p.Asp606Val)
n.284-686T>A
Xg.47206037C>ACA412801658UBA1c.1665C>A (p.Asp555Glu)
n.465-41C>A
c.1683C>A (p.Asp561Glu)
c.1749C>A (p.Asp583Glu)
c.1707C>A (p.Asp569Glu)
n.216-687G>T
c.1818C>A (p.Asp606Glu)
n.284-687G>T
 gnomAD v4
Xg.47206037C=CA2427845511UBA1c.1665C= (p.Asp555=)
n.465-41C=
c.1683C= (p.Asp561=)
c.1749C= (p.Asp583=)
c.1707C= (p.Asp569=)
n.216-687G=
c.1818C= (p.Asp606=)
n.284-687G=
Xg.47206037C>GCA412801659UBA1c.1665C>G (p.Asp555Glu)
n.465-41C>G
c.1683C>G (p.Asp561Glu)
c.1749C>G (p.Asp583Glu)
c.1707C>G (p.Asp569Glu)
n.216-687G>C
c.1818C>G (p.Asp606Glu)
n.284-687G>C
Xg.47206037C>TCA10395977UBA1c.1665C>T (p.Asp555=)
n.465-41C>T
c.1683C>T (p.Asp561=)
c.1749C>T (p.Asp583=)
c.1707C>T (p.Asp569=)
n.216-687G>A
c.1818C>T (p.Asp606=)
n.284-687G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206038A>CCA412801661UBA1c.1666A>C (p.Thr556Pro)
n.465-40A>C
c.1684A>C (p.Thr562Pro)
c.1750A>C (p.Thr584Pro)
c.1708A>C (p.Thr570Pro)
n.216-688T>G
c.1819A>C (p.Thr607Pro)
n.284-688T>G
Xg.47206038A>GCA412801665UBA1c.1666A>G (p.Thr556Ala)
n.465-40A>G
c.1684A>G (p.Thr562Ala)
c.1750A>G (p.Thr584Ala)
c.1708A>G (p.Thr570Ala)
n.216-688T>C
c.1819A>G (p.Thr607Ala)
n.284-688T>C
 dbSNP
Xg.47206038A>TCA412801668UBA1c.1666A>T (p.Thr556Ser)
n.465-40A>T
c.1684A>T (p.Thr562Ser)
c.1750A>T (p.Thr584Ser)
c.1708A>T (p.Thr570Ser)
n.216-688T>A
c.1819A>T (p.Thr607Ser)
n.284-688T>A
Xg.47206039C>ACA412801670UBA1c.1667C>A (p.Thr556Lys)
n.465-39C>A
c.1685C>A (p.Thr562Lys)
c.1751C>A (p.Thr584Lys)
c.1709C>A (p.Thr570Lys)
n.216-689G>T
c.1820C>A (p.Thr607Lys)
n.284-689G>T
Xg.47206039C>GCA412801675UBA1c.1667C>G (p.Thr556Arg)
n.465-39C>G
c.1685C>G (p.Thr562Arg)
c.1751C>G (p.Thr584Arg)
c.1709C>G (p.Thr570Arg)
n.216-689G>C
c.1820C>G (p.Thr607Arg)
n.284-689G>C
Xg.47206039C>TCA412801679UBA1c.1667C>T (p.Thr556Met)
n.465-39C>T
c.1685C>T (p.Thr562Met)
c.1751C>T (p.Thr584Met)
c.1709C>T (p.Thr570Met)
n.216-689G>A
c.1820C>T (p.Thr607Met)
n.284-689G>A
Xg.47206040G>ACA516351789UBA1c.1668G>A (p.Thr556=)
n.465-38G>A
c.1686G>A (p.Thr562=)
c.1752G>A (p.Thr584=)
c.1710G>A (p.Thr570=)
n.216-690C>T
c.1821G>A (p.Thr607=)
n.284-690C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206040G>CCA516351790UBA1c.1668G>C (p.Thr556=)
n.465-38G>C
c.1686G>C (p.Thr562=)
c.1752G>C (p.Thr584=)
c.1710G>C (p.Thr570=)
n.216-690C>G
c.1821G>C (p.Thr607=)
n.284-690C>G
Xg.47206040G=CA2427845512UBA1c.1668G= (p.Thr556=)
n.465-38G=
c.1686G= (p.Thr562=)
c.1752G= (p.Thr584=)
c.1710G= (p.Thr570=)
n.216-690C=
c.1821G= (p.Thr607=)
n.284-690C=
Xg.47206040G>TCA516351791UBA1c.1668G>T (p.Thr556=)
n.465-38G>T
c.1686G>T (p.Thr562=)
c.1752G>T (p.Thr584=)
c.1710G>T (p.Thr570=)
n.216-690C>A
c.1821G>T (p.Thr607=)
n.284-690C>A
Xg.47206041G>ACA412801681UBA1c.1669G>A (p.Glu557Lys)
n.465-37G>A
c.1687G>A (p.Glu563Lys)
c.1753G>A (p.Glu585Lys)
c.1711G>A (p.Glu571Lys)
n.216-691C>T
c.1822G>A (p.Glu608Lys)
n.284-691C>T
Xg.47206041G>CCA412801685UBA1c.1669G>C (p.Glu557Gln)
n.465-37G>C
c.1687G>C (p.Glu563Gln)
c.1753G>C (p.Glu585Gln)
c.1711G>C (p.Glu571Gln)
n.216-691C>G
c.1822G>C (p.Glu608Gln)
n.284-691C>G
Xg.47206041G>TCA412801688UBA1c.1669G>T (p.Glu557Ter)
n.465-37G>T
c.1687G>T (p.Glu563Ter)
c.1753G>T (p.Glu585Ter)
c.1711G>T (p.Glu571Ter)
n.216-691C>A
c.1822G>T (p.Glu608Ter)
n.284-691C>A
 gnomAD v4
Xg.47206042A>CCA412801692UBA1c.1670A>C (p.Glu557Ala)
n.465-36A>C
c.1688A>C (p.Glu563Ala)
c.1754A>C (p.Glu585Ala)
c.1712A>C (p.Glu571Ala)
n.216-692T>G
c.1823A>C (p.Glu608Ala)
n.284-692T>G
Xg.47206042A>GCA412801695UBA1c.1670A>G (p.Glu557Gly)
n.465-36A>G
c.1688A>G (p.Glu563Gly)
c.1754A>G (p.Glu585Gly)
c.1712A>G (p.Glu571Gly)
n.216-692T>C
c.1823A>G (p.Glu608Gly)
n.284-692T>C
Xg.47206042A>TCA412801693UBA1c.1670A>T (p.Glu557Val)
n.465-36A>T
c.1688A>T (p.Glu563Val)
c.1754A>T (p.Glu585Val)
c.1712A>T (p.Glu571Val)
n.216-692T>A
c.1823A>T (p.Glu608Val)
n.284-692T>A
Xg.47206043G>ACA516351792UBA1c.1671G>A (p.Glu557=)
n.465-35G>A
c.1689G>A (p.Glu563=)
c.1755G>A (p.Glu585=)
c.1713G>A (p.Glu571=)
n.216-693C>T
c.1824G>A (p.Glu608=)
n.284-693C>T
 dbSNP
Xg.47206043G>CCA412801697UBA1c.1671G>C (p.Glu557Asp)
n.465-35G>C
c.1689G>C (p.Glu563Asp)
c.1755G>C (p.Glu585Asp)
c.1713G>C (p.Glu571Asp)
n.216-693C>G
c.1824G>C (p.Glu608Asp)
n.284-693C>G
Xg.47206043G=CA2427845513UBA1c.1671G= (p.Glu557=)
n.465-35G=
c.1689G= (p.Glu563=)
c.1755G= (p.Glu585=)
c.1713G= (p.Glu571=)
n.216-693C=
c.1824G= (p.Glu608=)
n.284-693C=
Xg.47206043G>TCA412801700UBA1c.1671G>T (p.Glu557Asp)
n.465-35G>T
c.1689G>T (p.Glu563Asp)
c.1755G>T (p.Glu585Asp)
c.1713G>T (p.Glu571Asp)
n.216-693C>A
c.1824G>T (p.Glu608Asp)
n.284-693C>A
Xg.47206044C>ACA412801703UBA1c.1672C>A (p.Arg558Ser)
n.465-34C>A
c.1690C>A (p.Arg564Ser)
c.1756C>A (p.Arg586Ser)
c.1714C>A (p.Arg572Ser)
n.216-694G>T
c.1825C>A (p.Arg609Ser)
n.284-694G>T
Xg.47206044C=CA2427845514UBA1c.1672C= (p.Arg558=)
n.465-34C=
c.1690C= (p.Arg564=)
c.1756C= (p.Arg586=)
c.1714C= (p.Arg572=)
n.216-694G=
c.1825C= (p.Arg609=)
n.284-694G=
Xg.47206044C>GCA412801706UBA1c.1672C>G (p.Arg558Gly)
n.465-34C>G
c.1690C>G (p.Arg564Gly)
c.1756C>G (p.Arg586Gly)
c.1714C>G (p.Arg572Gly)
n.216-694G>C
c.1825C>G (p.Arg609Gly)
n.284-694G>C
Xg.47206044C>TCA412801709UBA1c.1672C>T (p.Arg558Cys)
n.465-34C>T
c.1690C>T (p.Arg564Cys)
c.1756C>T (p.Arg586Cys)
c.1714C>T (p.Arg572Cys)
n.216-694G>A
c.1825C>T (p.Arg609Cys)
n.284-694G>A
 dbSNP gnomAD v4
Xg.47206045G>ACA10395978UBA1c.1673G>A (p.Arg558His)
n.465-33G>A
c.1691G>A (p.Arg564His)
c.1757G>A (p.Arg586His)
c.1715G>A (p.Arg572His)
n.216-695C>T
c.1826G>A (p.Arg609His)
n.284-695C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.47206045G>CCA412801714UBA1c.1673G>C (p.Arg558Pro)
n.465-33G>C
c.1691G>C (p.Arg564Pro)
c.1757G>C (p.Arg586Pro)
c.1715G>C (p.Arg572Pro)
n.216-695C>G
c.1826G>C (p.Arg609Pro)
n.284-695C>G
Xg.47206045G=CA2427845515UBA1c.1673G= (p.Arg558=)
n.465-33G=
c.1691G= (p.Arg564=)
c.1757G= (p.Arg586=)
c.1715G= (p.Arg572=)
n.216-695C=
c.1826G= (p.Arg609=)
n.284-695C=
Xg.47206045G>TCA412801717UBA1c.1673G>T (p.Arg558Leu)
n.465-33G>T
c.1691G>T (p.Arg564Leu)
c.1757G>T (p.Arg586Leu)
c.1715G>T (p.Arg572Leu)
n.216-695C>A
c.1826G>T (p.Arg609Leu)
n.284-695C>A
 gnomAD v4
Xg.47206046C>ACA516351793UBA1c.1674C>A (p.Arg558=)
n.465-32C>A
c.1692C>A (p.Arg564=)
c.1758C>A (p.Arg586=)
c.1716C>A (p.Arg572=)
n.216-696G>T
c.1827C>A (p.Arg609=)
n.284-696G>T
Xg.47206046C>GCA516351794UBA1c.1674C>G (p.Arg558=)
n.465-32C>G
c.1692C>G (p.Arg564=)
c.1758C>G (p.Arg586=)
c.1716C>G (p.Arg572=)
n.216-696G>C
c.1827C>G (p.Arg609=)
n.284-696G>C
Xg.47206046C>TCA516351795UBA1c.1674C>T (p.Arg558=)
n.465-32C>T
c.1692C>T (p.Arg564=)
c.1758C>T (p.Arg586=)
c.1716C>T (p.Arg572=)
n.216-696G>A
c.1827C>T (p.Arg609=)
n.284-696G>A
Xg.47206047A>CCA412801721UBA1c.1675A>C (p.Ile559Leu)
n.465-31A>C
c.1693A>C (p.Ile565Leu)
c.1759A>C (p.Ile587Leu)
c.1717A>C (p.Ile573Leu)
n.216-697T>G
c.1828A>C (p.Ile610Leu)
n.284-697T>G
Xg.47206047A>GCA412801725UBA1c.1675A>G (p.Ile559Val)
n.465-31A>G
c.1693A>G (p.Ile565Val)
c.1759A>G (p.Ile587Val)
c.1717A>G (p.Ile573Val)
n.216-697T>C
c.1828A>G (p.Ile610Val)
n.284-697T>C
 gnomAD v4
Xg.47206047A>TCA412801728UBA1c.1675A>T (p.Ile559Phe)
n.465-31A>T
c.1693A>T (p.Ile565Phe)
c.1759A>T (p.Ile587Phe)
c.1717A>T (p.Ile573Phe)
n.216-697T>A
c.1828A>T (p.Ile610Phe)
n.284-697T>A
Xg.47206048T>ACA412801757UBA1c.1676T>A (p.Ile559Asn)
n.465-30T>A
c.1694T>A (p.Ile565Asn)
c.1760T>A (p.Ile587Asn)
c.1718T>A (p.Ile573Asn)
n.216-698A>T
c.1829T>A (p.Ile610Asn)
n.284-698A>T
 gnomAD v4
Xg.47206048T>CCA412801753UBA1c.1676T>C (p.Ile559Thr)
n.465-30T>C
c.1694T>C (p.Ile565Thr)
c.1760T>C (p.Ile587Thr)
c.1718T>C (p.Ile573Thr)
n.216-698A>G
c.1829T>C (p.Ile610Thr)
n.284-698A>G
Xg.47206048T>GCA412801750UBA1c.1676T>G (p.Ile559Ser)
n.465-30T>G
c.1694T>G (p.Ile565Ser)
c.1760T>G (p.Ile587Ser)
c.1718T>G (p.Ile573Ser)
n.216-698A>C
c.1829T>G (p.Ile610Ser)
n.284-698A>C
Xg.47206049C>ACA516351796UBA1c.1677C>A (p.Ile559=)
n.465-29C>A
c.1695C>A (p.Ile565=)
c.1761C>A (p.Ile587=)
c.1719C>A (p.Ile573=)
n.216-699G>T
c.1830C>A (p.Ile610=)
n.284-699G>T
Xg.47206049C>GCA412801758UBA1c.1677C>G (p.Ile559Met)
n.465-29C>G
c.1695C>G (p.Ile565Met)
c.1761C>G (p.Ile587Met)
c.1719C>G (p.Ile573Met)
n.216-699G>C
c.1830C>G (p.Ile610Met)
n.284-699G>C
Xg.47206049C>TCA516351797UBA1c.1677C>T (p.Ile559=)
n.465-29C>T
c.1695C>T (p.Ile565=)
c.1761C>T (p.Ile587=)
c.1719C>T (p.Ile573=)
n.216-699G>A
c.1830C>T (p.Ile610=)
n.284-699G>A
Xg.47206050T>ACA412801759UBA1c.1678T>A (p.Tyr560Asn)
n.465-28T>A
c.1696T>A (p.Tyr566Asn)
c.1762T>A (p.Tyr588Asn)
c.1720T>A (p.Tyr574Asn)
n.216-700A>T
c.1831T>A (p.Tyr611Asn)
n.284-700A>T
Xg.47206050T>CCA412801760UBA1c.1678T>C (p.Tyr560His)
n.465-28T>C
c.1696T>C (p.Tyr566His)
c.1762T>C (p.Tyr588His)
c.1720T>C (p.Tyr574His)
n.216-700A>G
c.1831T>C (p.Tyr611His)
n.284-700A>G
 COSMIC
Xg.47206050T>GCA412801761UBA1c.1678T>G (p.Tyr560Asp)
n.465-28T>G
c.1696T>G (p.Tyr566Asp)
c.1762T>G (p.Tyr588Asp)
c.1720T>G (p.Tyr574Asp)
n.216-700A>C
c.1831T>G (p.Tyr611Asp)
n.284-700A>C
Xg.47206051A>CCA412801764UBA1c.1679A>C (p.Tyr560Ser)
n.465-27A>C
c.1697A>C (p.Tyr566Ser)
c.1763A>C (p.Tyr588Ser)
c.1721A>C (p.Tyr574Ser)
n.216-701T>G
c.1832A>C (p.Tyr611Ser)
n.284-701T>G
Xg.47206051A>GCA412801767UBA1c.1679A>G (p.Tyr560Cys)
n.465-27A>G
c.1697A>G (p.Tyr566Cys)
c.1763A>G (p.Tyr588Cys)
c.1721A>G (p.Tyr574Cys)
n.216-701T>C
c.1832A>G (p.Tyr611Cys)
n.284-701T>C
Xg.47206051A>TCA412801770UBA1c.1679A>T (p.Tyr560Phe)
n.465-27A>T
c.1697A>T (p.Tyr566Phe)
c.1763A>T (p.Tyr588Phe)
c.1721A>T (p.Tyr574Phe)
n.216-701T>A
c.1832A>T (p.Tyr611Phe)
n.284-701T>A
Xg.47206052T>ACA412801772UBA1c.1680T>A (p.Tyr560Ter)
n.465-26T>A
c.1698T>A (p.Tyr566Ter)
c.1764T>A (p.Tyr588Ter)
c.1722T>A (p.Tyr574Ter)
n.216-702A>T
c.1833T>A (p.Tyr611Ter)
n.284-702A>T
Xg.47206052T>CCA516351799UBA1c.1680T>C (p.Tyr560=)
n.465-26T>C
c.1698T>C (p.Tyr566=)
c.1764T>C (p.Tyr588=)
c.1722T>C (p.Tyr574=)
n.216-702A>G
c.1833T>C (p.Tyr611=)
n.284-702A>G
Xg.47206052T>GCA412801774UBA1c.1680T>G (p.Tyr560Ter)
n.465-26T>G
c.1698T>G (p.Tyr566Ter)
c.1764T>G (p.Tyr588Ter)
c.1722T>G (p.Tyr574Ter)
n.216-702A>C
c.1833T>G (p.Tyr611Ter)
n.284-702A>C
Xg.47206053G>ACA412801776UBA1c.1681G>A (p.Asp561Asn)
n.465-25G>A
c.1699G>A (p.Asp567Asn)
c.1765G>A (p.Asp589Asn)
c.1723G>A (p.Asp575Asn)
n.216-703C>T
c.1834G>A (p.Asp612Asn)
n.284-703C>T
Xg.47206053G>CCA412801780UBA1c.1681G>C (p.Asp561His)
n.465-25G>C
c.1699G>C (p.Asp567His)
c.1765G>C (p.Asp589His)
c.1723G>C (p.Asp575His)
n.216-703C>G
c.1834G>C (p.Asp612His)
n.284-703C>G
Xg.47206053G>TCA412801783UBA1c.1681G>T (p.Asp561Tyr)
n.465-25G>T
c.1699G>T (p.Asp567Tyr)
c.1765G>T (p.Asp589Tyr)
c.1723G>T (p.Asp575Tyr)
n.216-703C>A
c.1834G>T (p.Asp612Tyr)
n.284-703C>A
Xg.47206054A>CCA412801806UBA1c.1682A>C (p.Asp561Ala)
n.465-24A>C
c.1700A>C (p.Asp567Ala)
c.1766A>C (p.Asp589Ala)
c.1724A>C (p.Asp575Ala)
n.216-704T>G
c.1835A>C (p.Asp612Ala)
n.284-704T>G
Xg.47206054A>GCA412801810UBA1c.1682A>G (p.Asp561Gly)
n.465-24A>G
c.1700A>G (p.Asp567Gly)
c.1766A>G (p.Asp589Gly)
c.1724A>G (p.Asp575Gly)
n.216-704T>C
c.1835A>G (p.Asp612Gly)
n.284-704T>C
Xg.47206054A>TCA412801795UBA1c.1682A>T (p.Asp561Val)
n.465-24A>T
c.1700A>T (p.Asp567Val)
c.1766A>T (p.Asp589Val)
c.1724A>T (p.Asp575Val)
n.216-704T>A
c.1835A>T (p.Asp612Val)
n.284-704T>A
Xg.47206055T>ACA412801821UBA1c.1683T>A (p.Asp561Glu)
n.465-23T>A
c.1701T>A (p.Asp567Glu)
c.1767T>A (p.Asp589Glu)
c.1725T>A (p.Asp575Glu)
n.216-705A>T
c.1836T>A (p.Asp612Glu)
n.284-705A>T
Xg.47206055T>CCA10395979UBA1c.1683T>C (p.Asp561=)
n.465-23T>C
c.1701T>C (p.Asp567=)
c.1767T>C (p.Asp589=)
c.1725T>C (p.Asp575=)
n.216-705A>G
c.1836T>C (p.Asp612=)
n.284-705A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206055T>GCA412801817UBA1c.1683T>G (p.Asp561Glu)
n.465-23T>G
c.1701T>G (p.Asp567Glu)
c.1767T>G (p.Asp589Glu)
c.1725T>G (p.Asp575Glu)
n.216-705A>C
c.1836T>G (p.Asp612Glu)
n.284-705A>C
Xg.47206055T=CA2427845516UBA1c.1683T= (p.Asp561=)
n.465-23T=
c.1701T= (p.Asp567=)
c.1767T= (p.Asp589=)
c.1725T= (p.Asp575=)
n.216-705A=
c.1836T= (p.Asp612=)
n.284-705A=
Xg.47206056G>ACA412801825UBA1c.1684G>A (p.Asp562Asn)
n.465-22G>A
c.1702G>A (p.Asp568Asn)
c.1768G>A (p.Asp590Asn)
c.1726G>A (p.Asp576Asn)
n.216-706C>T
c.1837G>A (p.Asp613Asn)
n.284-706C>T
Xg.47206056G>CCA412801832UBA1c.1684G>C (p.Asp562His)
n.465-22G>C
c.1702G>C (p.Asp568His)
c.1768G>C (p.Asp590His)
c.1726G>C (p.Asp576His)
n.216-706C>G
c.1837G>C (p.Asp613His)
n.284-706C>G
Xg.47206056G>TCA412801834UBA1c.1684G>T (p.Asp562Tyr)
n.465-22G>T
c.1702G>T (p.Asp568Tyr)
c.1768G>T (p.Asp590Tyr)
c.1726G>T (p.Asp576Tyr)
n.216-706C>A
c.1837G>T (p.Asp613Tyr)
n.284-706C>A
Xg.47206057A>CCA412801838UBA1c.1685A>C (p.Asp562Ala)
n.465-21A>C
c.1703A>C (p.Asp568Ala)
c.1769A>C (p.Asp590Ala)
c.1727A>C (p.Asp576Ala)
n.216-707T>G
c.1838A>C (p.Asp613Ala)
n.284-707T>G
Xg.47206057A>GCA412801839UBA1c.1685A>G (p.Asp562Gly)
n.465-21A>G
c.1703A>G (p.Asp568Gly)
c.1769A>G (p.Asp590Gly)
c.1727A>G (p.Asp576Gly)
n.216-707T>C
c.1838A>G (p.Asp613Gly)
n.284-707T>C
Xg.47206057A>TCA412801842UBA1c.1685A>T (p.Asp562Val)
n.465-21A>T
c.1703A>T (p.Asp568Val)
c.1769A>T (p.Asp590Val)
c.1727A>T (p.Asp576Val)
n.216-707T>A
c.1838A>T (p.Asp613Val)
n.284-707T>A
Xg.47206058C>ACA412801846UBA1c.1686C>A (p.Asp562Glu)
n.465-20C>A
c.1704C>A (p.Asp568Glu)
c.1770C>A (p.Asp590Glu)
c.1728C>A (p.Asp576Glu)
n.216-708G>T
c.1839C>A (p.Asp613Glu)
n.284-708G>T
Xg.47206058C=CA2427845517UBA1c.1686C= (p.Asp562=)
n.465-20C=
c.1704C= (p.Asp568=)
c.1770C= (p.Asp590=)
c.1728C= (p.Asp576=)
n.216-708G=
c.1839C= (p.Asp613=)
n.284-708G=
Xg.47206058C>GCA412801848UBA1c.1686C>G (p.Asp562Glu)
n.465-20C>G
c.1704C>G (p.Asp568Glu)
c.1770C>G (p.Asp590Glu)
c.1728C>G (p.Asp576Glu)
n.216-708G>C
c.1839C>G (p.Asp613Glu)
n.284-708G>C
Xg.47206058C>TCA10395980UBA1c.1686C>T (p.Asp562=)
n.465-20C>T
c.1704C>T (p.Asp568=)
c.1770C>T (p.Asp590=)
c.1728C>T (p.Asp576=)
n.216-708G>A
c.1839C>T (p.Asp613=)
n.284-708G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206059G>ACA412801861UBA1c.1687G>A (p.Asp563Asn)
n.465-19G>A
c.1705G>A (p.Asp569Asn)
c.1771G>A (p.Asp591Asn)
c.1729G>A (p.Asp577Asn)
n.216-709C>T
c.1840G>A (p.Asp614Asn)
n.284-709C>T
Xg.47206059G>CCA412801857UBA1c.1687G>C (p.Asp563His)
n.465-19G>C
c.1705G>C (p.Asp569His)
c.1771G>C (p.Asp591His)
c.1729G>C (p.Asp577His)
n.216-709C>G
c.1840G>C (p.Asp614His)
n.284-709C>G
Xg.47206059G>TCA412801854UBA1c.1687G>T (p.Asp563Tyr)
n.465-19G>T
c.1705G>T (p.Asp569Tyr)
c.1771G>T (p.Asp591Tyr)
c.1729G>T (p.Asp577Tyr)
n.216-709C>A
c.1840G>T (p.Asp614Tyr)
n.284-709C>A
 ClinVar dbSNP
Xg.47206060A>CCA412801865UBA1c.1688A>C (p.Asp563Ala)
n.465-18A>C
c.1706A>C (p.Asp569Ala)
c.1772A>C (p.Asp591Ala)
c.1730A>C (p.Asp577Ala)
n.216-710T>G
c.1841A>C (p.Asp614Ala)
n.284-710T>G
Xg.47206060A>GCA412801867UBA1c.1688A>G (p.Asp563Gly)
n.465-18A>G
c.1706A>G (p.Asp569Gly)
c.1772A>G (p.Asp591Gly)
c.1730A>G (p.Asp577Gly)
n.216-710T>C
c.1841A>G (p.Asp614Gly)
n.284-710T>C
Xg.47206060A>TCA412801871UBA1c.1688A>T (p.Asp563Val)
n.465-18A>T
c.1706A>T (p.Asp569Val)
c.1772A>T (p.Asp591Val)
c.1730A>T (p.Asp577Val)
n.216-710T>A
c.1841A>T (p.Asp614Val)
n.284-710T>A
Xg.47206061T>ACA412801873UBA1c.1689T>A (p.Asp563Glu)
n.465-17T>A
c.1707T>A (p.Asp569Glu)
c.1773T>A (p.Asp591Glu)
c.1731T>A (p.Asp577Glu)
n.216-711A>T
c.1842T>A (p.Asp614Glu)
n.284-711A>T
Xg.47206061T>CCA516351801UBA1c.1689T>C (p.Asp563=)
n.465-17T>C
c.1707T>C (p.Asp569=)
c.1773T>C (p.Asp591=)
c.1731T>C (p.Asp577=)
n.216-711A>G
c.1842T>C (p.Asp614=)
n.284-711A>G
Xg.47206061T>GCA412801875UBA1c.1689T>G (p.Asp563Glu)
n.465-17T>G
c.1707T>G (p.Asp569Glu)
c.1773T>G (p.Asp591Glu)
c.1731T>G (p.Asp577Glu)
n.216-711A>C
c.1842T>G (p.Asp614Glu)
n.284-711A>C
Xg.47206066delCA2693564277UBA1c.1694del (p.Phe565SerfsTer4)
n.465-12del
c.1712del (p.Phe571SerfsTer4)
c.1778del (p.Phe593SerfsTer4)
c.1736del (p.Phe579SerfsTer4)
n.216-711del
c.1847del (p.Phe616SerfsTer4)
n.284-711del
 gnomAD v4
Xg.47206062T>ACA412801879UBA1c.1690T>A (p.Phe564Ile)
n.465-16T>A
c.1708T>A (p.Phe570Ile)
c.1774T>A (p.Phe592Ile)
c.1732T>A (p.Phe578Ile)
n.216-712A>T
c.1843T>A (p.Phe615Ile)
n.284-712A>T
Xg.47206062T>CCA412801883UBA1c.1690T>C (p.Phe564Leu)
n.465-16T>C
c.1708T>C (p.Phe570Leu)
c.1774T>C (p.Phe592Leu)
c.1732T>C (p.Phe578Leu)
n.216-712A>G
c.1843T>C (p.Phe615Leu)
n.284-712A>G
Xg.47206062T>GCA412801884UBA1c.1690T>G (p.Phe564Val)
n.465-16T>G
c.1708T>G (p.Phe570Val)
c.1774T>G (p.Phe592Val)
c.1732T>G (p.Phe578Val)
n.216-712A>C
c.1843T>G (p.Phe615Val)
n.284-712A>C
Xg.47206063T>ACA412801888UBA1c.1691T>A (p.Phe564Tyr)
n.465-15T>A
c.1709T>A (p.Phe570Tyr)
c.1775T>A (p.Phe592Tyr)
c.1733T>A (p.Phe578Tyr)
n.216-713A>T
c.1844T>A (p.Phe615Tyr)
n.284-713A>T
Xg.47206063T>CCA412801899UBA1c.1691T>C (p.Phe564Ser)
n.465-15T>C
c.1709T>C (p.Phe570Ser)
c.1775T>C (p.Phe592Ser)
c.1733T>C (p.Phe578Ser)
n.216-713A>G
c.1844T>C (p.Phe615Ser)
n.284-713A>G
Xg.47206063T>GCA412801904UBA1c.1691T>G (p.Phe564Cys)
n.465-15T>G
c.1709T>G (p.Phe570Cys)
c.1775T>G (p.Phe592Cys)
c.1733T>G (p.Phe578Cys)
n.216-713A>C
c.1844T>G (p.Phe615Cys)
n.284-713A>C
Xg.47206064T>ACA412801919UBA1c.1692T>A (p.Phe564Leu)
n.465-14T>A
c.1710T>A (p.Phe570Leu)
c.1776T>A (p.Phe592Leu)
c.1734T>A (p.Phe578Leu)
n.216-714A>T
c.1845T>A (p.Phe615Leu)
n.284-714A>T
Xg.47206064T>CCA516351802UBA1c.1692T>C (p.Phe564=)
n.465-14T>C
c.1710T>C (p.Phe570=)
c.1776T>C (p.Phe592=)
c.1734T>C (p.Phe578=)
n.216-714A>G
c.1845T>C (p.Phe615=)
n.284-714A>G
Xg.47206064T>GCA412801921UBA1c.1692T>G (p.Phe564Leu)
n.465-14T>G
c.1710T>G (p.Phe570Leu)
c.1776T>G (p.Phe592Leu)
c.1734T>G (p.Phe578Leu)
n.216-714A>C
c.1845T>G (p.Phe615Leu)
n.284-714A>C
Xg.47206065T>ACA412801926UBA1c.1693T>A (p.Phe565Ile)
n.465-13T>A
c.1711T>A (p.Phe571Ile)
c.1777T>A (p.Phe593Ile)
c.1735T>A (p.Phe579Ile)
n.216-715A>T
c.1846T>A (p.Phe616Ile)
n.284-715A>T
Xg.47206065T>CCA412801929UBA1c.1693T>C (p.Phe565Leu)
n.465-13T>C
c.1711T>C (p.Phe571Leu)
c.1777T>C (p.Phe593Leu)
c.1735T>C (p.Phe579Leu)
n.216-715A>G
c.1846T>C (p.Phe616Leu)
n.284-715A>G
Xg.47206065T>GCA412801924UBA1c.1693T>G (p.Phe565Val)
n.465-13T>G
c.1711T>G (p.Phe571Val)
c.1777T>G (p.Phe593Val)
c.1735T>G (p.Phe579Val)
n.216-715A>C
c.1846T>G (p.Phe616Val)
n.284-715A>C
Xg.47206066T>ACA412801934UBA1c.1694T>A (p.Phe565Tyr)
n.465-12T>A
c.1712T>A (p.Phe571Tyr)
c.1778T>A (p.Phe593Tyr)
c.1736T>A (p.Phe579Tyr)
n.216-716A>T
c.1847T>A (p.Phe616Tyr)
n.284-716A>T
Xg.47206066T>CCA412801937UBA1c.1694T>C (p.Phe565Ser)
n.465-12T>C
c.1712T>C (p.Phe571Ser)
c.1778T>C (p.Phe593Ser)
c.1736T>C (p.Phe579Ser)
n.216-716A>G
c.1847T>C (p.Phe616Ser)
n.284-716A>G
Xg.47206066T>GCA412801941UBA1c.1694T>G (p.Phe565Cys)
n.465-12T>G
c.1712T>G (p.Phe571Cys)
c.1778T>G (p.Phe593Cys)
c.1736T>G (p.Phe579Cys)
n.216-716A>C
c.1847T>G (p.Phe616Cys)
n.284-716A>C
Xg.47206067C>ACA412801944UBA1c.1695C>A (p.Phe565Leu)
n.465-11C>A
c.1713C>A (p.Phe571Leu)
c.1779C>A (p.Phe593Leu)
c.1737C>A (p.Phe579Leu)
n.216-717G>T
c.1848C>A (p.Phe616Leu)
n.284-717G>T
Xg.47206067C=CA2427845518UBA1c.1695C= (p.Phe565=)
n.465-11C=
c.1713C= (p.Phe571=)
c.1779C= (p.Phe593=)
c.1737C= (p.Phe579=)
n.216-717G=
c.1848C= (p.Phe616=)
n.284-717G=
Xg.47206067C>GCA412801947UBA1c.1695C>G (p.Phe565Leu)
n.465-11C>G
c.1713C>G (p.Phe571Leu)
c.1779C>G (p.Phe593Leu)
c.1737C>G (p.Phe579Leu)
n.216-717G>C
c.1848C>G (p.Phe616Leu)
n.284-717G>C
 dbSNP gnomAD v4
Xg.47206067C>TCA10395981UBA1c.1695C>T (p.Phe565=)
n.465-11C>T
c.1713C>T (p.Phe571=)
c.1779C>T (p.Phe593=)
c.1737C>T (p.Phe579=)
n.216-717G>A
c.1848C>T (p.Phe616=)
n.284-717G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47206068C>ACA412801954UBA1c.1696C>A (p.Gln566Lys)
n.465-10C>A
c.1714C>A (p.Gln572Lys)
c.1780C>A (p.Gln594Lys)
c.1738C>A (p.Gln580Lys)
n.216-718G>T
c.1849C>A (p.Gln617Lys)
n.284-718G>T
Xg.47206068C>GCA412801957UBA1c.1696C>G (p.Gln566Glu)
n.465-10C>G
c.1714C>G (p.Gln572Glu)
c.1780C>G (p.Gln594Glu)
c.1738C>G (p.Gln580Glu)
n.216-718G>C
c.1849C>G (p.Gln617Glu)
n.284-718G>C
Xg.47206068C>TCA412801958UBA1c.1696C>T (p.Gln566Ter)
n.465-10C>T
c.1714C>T (p.Gln572Ter)
c.1780C>T (p.Gln594Ter)
c.1738C>T (p.Gln580Ter)
n.216-718G>A
c.1849C>T (p.Gln617Ter)
n.284-718G>A
Xg.47206069A>CCA412801961UBA1c.1697A>C (p.Gln566Pro)
n.465-9A>C
c.1715A>C (p.Gln572Pro)
c.1781A>C (p.Gln594Pro)
c.1739A>C (p.Gln580Pro)
n.216-719T>G
c.1850A>C (p.Gln617Pro)
n.284-719T>G
Xg.47206069A>GCA412801963UBA1c.1697A>G (p.Gln566Arg)
n.465-9A>G
c.1715A>G (p.Gln572Arg)
c.1781A>G (p.Gln594Arg)
c.1739A>G (p.Gln580Arg)
n.216-719T>C
c.1850A>G (p.Gln617Arg)
n.284-719T>C
 COSMIC
Xg.47206069A>TCA412801966UBA1c.1697A>T (p.Gln566Leu)
n.465-9A>T
c.1715A>T (p.Gln572Leu)
c.1781A>T (p.Gln594Leu)
c.1739A>T (p.Gln580Leu)
n.216-719T>A
c.1850A>T (p.Gln617Leu)
n.284-719T>A
Xg.47206070A=CA2427845519UBA1c.1698A= (p.Gln566=)
n.465-8A=
c.1716A= (p.Gln572=)
c.1782A= (p.Gln594=)
c.1740A= (p.Gln580=)
n.216-720T=
c.1851A= (p.Gln617=)
n.284-720T=
Xg.47206070A>CCA412801968UBA1c.1698A>C (p.Gln566His)
n.465-8A>C
c.1716A>C (p.Gln572His)
c.1782A>C (p.Gln594His)
c.1740A>C (p.Gln580His)
n.216-720T>G
c.1851A>C (p.Gln617His)
n.284-720T>G
Xg.47206070A>GCA516351803UBA1c.1698A>G (p.Gln566=)
n.465-8A>G
c.1716A>G (p.Gln572=)
c.1782A>G (p.Gln594=)
c.1740A>G (p.Gln580=)
n.216-720T>C
c.1851A>G (p.Gln617=)
n.284-720T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206070A>TCA412801971UBA1c.1698A>T (p.Gln566His)
n.465-8A>T
c.1716A>T (p.Gln572His)
c.1782A>T (p.Gln594His)
c.1740A>T (p.Gln580His)
n.216-720T>A
c.1851A>T (p.Gln617His)
n.284-720T>A
Xg.47206071A>CCA412801978UBA1c.1699A>C (p.Asn567His)
n.465-7A>C
c.1717A>C (p.Asn573His)
c.1783A>C (p.Asn595His)
c.1741A>C (p.Asn581His)
n.216-721T>G
c.1852A>C (p.Asn618His)
n.284-721T>G
Xg.47206071A>GCA412801976UBA1c.1699A>G (p.Asn567Asp)
n.465-7A>G
c.1717A>G (p.Asn573Asp)
c.1783A>G (p.Asn595Asp)
c.1741A>G (p.Asn581Asp)
n.216-721T>C
c.1852A>G (p.Asn618Asp)
n.284-721T>C
Xg.47206071A>TCA412801974UBA1c.1699A>T (p.Asn567Tyr)
n.465-7A>T
c.1717A>T (p.Asn573Tyr)
c.1783A>T (p.Asn595Tyr)
c.1741A>T (p.Asn581Tyr)
n.216-721T>A
c.1852A>T (p.Asn618Tyr)
n.284-721T>A
Xg.47206072A>CCA412801982UBA1c.1700A>C (p.Asn567Thr)
n.465-6A>C
c.1718A>C (p.Asn573Thr)
c.1784A>C (p.Asn595Thr)
c.1742A>C (p.Asn581Thr)
n.216-722T>G
c.1853A>C (p.Asn618Thr)
n.284-722T>G
Xg.47206072A>GCA412801986UBA1c.1700A>G (p.Asn567Ser)
n.465-6A>G
c.1718A>G (p.Asn573Ser)
c.1784A>G (p.Asn595Ser)
c.1742A>G (p.Asn581Ser)
n.216-722T>C
c.1853A>G (p.Asn618Ser)
n.284-722T>C
 gnomAD v4
Xg.47206072A>TCA412801987UBA1c.1700A>T (p.Asn567Ile)
n.465-6A>T
c.1718A>T (p.Asn573Ile)
c.1784A>T (p.Asn595Ile)
c.1742A>T (p.Asn581Ile)
n.216-722T>A
c.1853A>T (p.Asn618Ile)
n.284-722T>A
Xg.47206073C>ACA412801989UBA1c.1701C>A (p.Asn567Lys)
n.465-5C>A
c.1719C>A (p.Asn573Lys)
c.1785C>A (p.Asn595Lys)
c.1743C>A (p.Asn581Lys)
n.216-723G>T
c.1854C>A (p.Asn618Lys)
n.284-723G>T
 dbSNP
Xg.47206073C=CA2427845520UBA1c.1701C= (p.Asn567=)
n.465-5C=
c.1719C= (p.Asn573=)
c.1785C= (p.Asn595=)
c.1743C= (p.Asn581=)
n.216-723G=
c.1854C= (p.Asn618=)
n.284-723G=
Xg.47206073C>GCA412802006UBA1c.1701C>G (p.Asn567Lys)
n.465-5C>G
c.1719C>G (p.Asn573Lys)
c.1785C>G (p.Asn595Lys)
c.1743C>G (p.Asn581Lys)
n.216-723G>C
c.1854C>G (p.Asn618Lys)
n.284-723G>C
Xg.47206073C>TCA516351804UBA1c.1701C>T (p.Asn567=)
n.465-5C>T
c.1719C>T (p.Asn573=)
c.1785C>T (p.Asn595=)
c.1743C>T (p.Asn581=)
n.216-723G>A
c.1854C>T (p.Asn618=)
n.284-723G>A
 dbSNP
Xg.47206074C>ACA412802009UBA1c.1702C>A (p.Leu568Ile)
n.465-4C>A
c.1720C>A (p.Leu574Ile)
c.1786C>A (p.Leu596Ile)
c.1744C>A (p.Leu582Ile)
n.216-724G>T
c.1855C>A (p.Leu619Ile)
n.284-724G>T
Xg.47206074C=CA2427845521UBA1c.1702C= (p.Leu568=)
n.465-4C=
c.1720C= (p.Leu574=)
c.1786C= (p.Leu596=)
c.1744C= (p.Leu582=)
n.216-724G=
c.1855C= (p.Leu619=)
n.284-724G=
Xg.47206074C>GCA10395982UBA1c.1702C>G (p.Leu568Val)
n.465-4C>G
c.1720C>G (p.Leu574Val)
c.1786C>G (p.Leu596Val)
c.1744C>G (p.Leu582Val)
n.216-724G>C
c.1855C>G (p.Leu619Val)
n.284-724G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.47206074C>TCA516351805UBA1c.1702C>T (p.Leu568=)
n.465-4C>T
c.1720C>T (p.Leu574=)
c.1786C>T (p.Leu596=)
c.1744C>T (p.Leu582=)
n.216-724G>A
c.1855C>T (p.Leu619=)
n.284-724G>A
 dbSNP gnomAD v4
Xg.47206075T>ACA412802017UBA1c.1703T>A (p.Leu568Gln)
n.465-3T>A
c.1721T>A (p.Leu574Gln)
c.1787T>A (p.Leu596Gln)
c.1745T>A (p.Leu582Gln)
n.216-725A>T
c.1856T>A (p.Leu619Gln)
n.284-725A>T
 gnomAD v4
Xg.47206075T>CCA412802020UBA1c.1703T>C (p.Leu568Pro)
n.465-3T>C
c.1721T>C (p.Leu574Pro)
c.1787T>C (p.Leu596Pro)
c.1745T>C (p.Leu582Pro)
n.216-725A>G
c.1856T>C (p.Leu619Pro)
n.284-725A>G
Xg.47206075T>GCA412802023UBA1c.1703T>G (p.Leu568Arg)
n.465-3T>G
c.1721T>G (p.Leu574Arg)
c.1787T>G (p.Leu596Arg)
c.1745T>G (p.Leu582Arg)
n.216-725A>C
c.1856T>G (p.Leu619Arg)
n.284-725A>C
Xg.47206076A>CCA516351807UBA1c.1704A>C (p.Leu568=)
n.465-2A>C
c.1722A>C (p.Leu574=)
c.1788A>C (p.Leu596=)
c.1746A>C (p.Leu582=)
n.216-726T>G
c.1857A>C (p.Leu619=)
n.284-726T>G
Xg.47206076A>GCA516351808UBA1c.1704A>G (p.Leu568=)
n.465-2A>G
c.1722A>G (p.Leu574=)
c.1788A>G (p.Leu596=)
c.1746A>G (p.Leu582=)
n.216-726T>C
c.1857A>G (p.Leu619=)
n.284-726T>C
Xg.47206076A>TCA516351806UBA1c.1704A>T (p.Leu568=)
n.465-2A>T
c.1722A>T (p.Leu574=)
c.1788A>T (p.Leu596=)
c.1746A>T (p.Leu582=)
n.216-726T>A
c.1857A>T (p.Leu619=)
n.284-726T>A
Xg.47206077G>ACA412802025UBA1c.1705G>A (p.Asp569Asn)
n.465-1G>A
c.1723G>A (p.Asp575Asn)
c.1789G>A (p.Asp597Asn)
c.1747G>A (p.Asp583Asn)
n.216-727C>T
c.1858G>A (p.Asp620Asn)
n.284-727C>T
Xg.47206077G>CCA412802026UBA1c.1705G>C (p.Asp569His)
n.465-1G>C
c.1723G>C (p.Asp575His)
c.1789G>C (p.Asp597His)
c.1747G>C (p.Asp583His)
n.216-727C>G
c.1858G>C (p.Asp620His)
n.284-727C>G
Xg.47206077G>TCA412802027UBA1c.1705G>T (p.Asp569Tyr)
n.465-1G>T
c.1723G>T (p.Asp575Tyr)
c.1789G>T (p.Asp597Tyr)
c.1747G>T (p.Asp583Tyr)
n.216-727C>A
c.1858G>T (p.Asp620Tyr)
n.284-727C>A
Xg.47206078A>CCA412802032UBA1c.1706A>C (p.Asp569Ala)
n.465A>C
c.1724A>C (p.Asp575Ala)
c.1790A>C (p.Asp597Ala)
c.1748A>C (p.Asp583Ala)
n.216-728T>G
c.1859A>C (p.Asp620Ala)
n.284-728T>G
Xg.47206078A>GCA412802030UBA1c.1706A>G (p.Asp569Gly)
n.465A>G
c.1724A>G (p.Asp575Gly)
c.1790A>G (p.Asp597Gly)
c.1748A>G (p.Asp583Gly)
n.216-728T>C
c.1859A>G (p.Asp620Gly)
n.284-728T>C
 gnomAD v4
Xg.47206078A>TCA412802028UBA1c.1706A>T (p.Asp569Val)
n.465A>T
c.1724A>T (p.Asp575Val)
c.1790A>T (p.Asp597Val)
c.1748A>T (p.Asp583Val)
n.216-728T>A
c.1859A>T (p.Asp620Val)
n.284-728T>A
Xg.47206079T>ACA412802034UBA1c.1707T>A (p.Asp569Glu)
n.466T>A
c.1725T>A (p.Asp575Glu)
c.1791T>A (p.Asp597Glu)
c.1749T>A (p.Asp583Glu)
n.216-729A>T
c.1860T>A (p.Asp620Glu)
n.284-729A>T
Xg.47206079T>CCA516351809UBA1c.1707T>C (p.Asp569=)
n.466T>C
c.1725T>C (p.Asp575=)
c.1791T>C (p.Asp597=)
c.1749T>C (p.Asp583=)
n.216-729A>G
c.1860T>C (p.Asp620=)
n.284-729A>G
Xg.47206079T>GCA412802036UBA1c.1707T>G (p.Asp569Glu)
n.466T>G
c.1725T>G (p.Asp575Glu)
c.1791T>G (p.Asp597Glu)
c.1749T>G (p.Asp583Glu)
n.216-729A>C
c.1860T>G (p.Asp620Glu)
n.284-729A>C
Xg.47206080G>ACA412802039UBA1c.1708G>A (p.Gly570Ser)
n.467G>A
c.1726G>A (p.Gly576Ser)
c.1792G>A (p.Gly598Ser)
c.1750G>A (p.Gly584Ser)
n.216-730C>T
c.1861G>A (p.Gly621Ser)
n.284-730C>T
Xg.47206080G>CCA412802043UBA1c.1708G>C (p.Gly570Arg)
n.467G>C
c.1726G>C (p.Gly576Arg)
c.1792G>C (p.Gly598Arg)
c.1750G>C (p.Gly584Arg)
n.216-730C>G
c.1861G>C (p.Gly621Arg)
n.284-730C>G
Xg.47206080G>TCA412802041UBA1c.1708G>T (p.Gly570Cys)
n.467G>T
c.1726G>T (p.Gly576Cys)
c.1792G>T (p.Gly598Cys)
c.1750G>T (p.Gly584Cys)
n.216-730C>A
c.1861G>T (p.Gly621Cys)
n.284-730C>A
Xg.47206081G>ACA412802047UBA1c.1709G>A (p.Gly570Asp)
n.468G>A
c.1727G>A (p.Gly576Asp)
c.1793G>A (p.Gly598Asp)
c.1751G>A (p.Gly584Asp)
n.216-731C>T
c.1862G>A (p.Gly621Asp)
n.284-731C>T
Xg.47206081G>CCA412802057UBA1c.1709G>C (p.Gly570Ala)
n.468G>C
c.1727G>C (p.Gly576Ala)
c.1793G>C (p.Gly598Ala)
c.1751G>C (p.Gly584Ala)
n.216-731C>G
c.1862G>C (p.Gly621Ala)
n.284-731C>G
Xg.47206081G>TCA412802053UBA1c.1709G>T (p.Gly570Val)
n.468G>T
c.1727G>T (p.Gly576Val)
c.1793G>T (p.Gly598Val)
c.1751G>T (p.Gly584Val)
n.216-731C>A
c.1862G>T (p.Gly621Val)
n.284-731C>A
Xg.47206082C>ACA516351810UBA1c.1710C>A (p.Gly570=)
n.469C>A
c.1728C>A (p.Gly576=)
c.1794C>A (p.Gly598=)
c.1752C>A (p.Gly584=)
n.216-732G>T
c.1863C>A (p.Gly621=)
n.284-732G>T
Xg.47206082C=CA2427845522UBA1c.1710C= (p.Gly570=)
n.469C=
c.1728C= (p.Gly576=)
c.1794C= (p.Gly598=)
c.1752C= (p.Gly584=)
n.216-732G=
c.1863C= (p.Gly621=)
n.284-732G=
Xg.47206082C>GCA516351811UBA1c.1710C>G (p.Gly570=)
n.469C>G
c.1728C>G (p.Gly576=)
c.1794C>G (p.Gly598=)
c.1752C>G (p.Gly584=)
n.216-732G>C
c.1863C>G (p.Gly621=)
n.284-732G>C
Xg.47206082C>TCA516351812UBA1c.1710C>T (p.Gly570=)
n.469C>T
c.1728C>T (p.Gly576=)
c.1794C>T (p.Gly598=)
c.1752C>T (p.Gly584=)
n.216-732G>A
c.1863C>T (p.Gly621=)
n.284-732G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47206083G>ACA412802060UBA1c.1711G>A (p.Val571Met)
n.470G>A
c.1729G>A (p.Val577Met)
c.1795G>A (p.Val599Met)
c.1753G>A (p.Val585Met)
n.216-733C>T
c.1864G>A (p.Val622Met)
n.284-733C>T
 gnomAD v4
Xg.47206083G>CCA412802065UBA1c.1711G>C (p.Val571Leu)
n.470G>C
c.1729G>C (p.Val577Leu)
c.1795G>C (p.Val599Leu)
c.1753G>C (p.Val585Leu)
n.216-733C>G
c.1864G>C (p.Val622Leu)
n.284-733C>G
Xg.47206083G>TCA412802062UBA1c.1711G>T (p.Val571Leu)
n.470G>T
c.1729G>T (p.Val577Leu)
c.1795G>T (p.Val599Leu)
c.1753G>T (p.Val585Leu)
n.216-733C>A
c.1864G>T (p.Val622Leu)
n.284-733C>A
Xg.47206084T>ACA412802067UBA1c.1712T>A (p.Val571Glu)
n.471T>A
c.1730T>A (p.Val577Glu)
c.1796T>A (p.Val599Glu)
c.1754T>A (p.Val585Glu)
n.216-734A>T
c.1865T>A (p.Val622Glu)
n.284-734A>T
Xg.47206084T>CCA412802069UBA1c.1712T>C (p.Val571Ala)
n.471T>C
c.1730T>C (p.Val577Ala)
c.1796T>C (p.Val599Ala)
c.1754T>C (p.Val585Ala)
n.216-734A>G
c.1865T>C (p.Val622Ala)
n.284-734A>G
Xg.47206084T>GCA412802072UBA1c.1712T>G (p.Val571Gly)
n.471T>G
c.1730T>G (p.Val577Gly)
c.1796T>G (p.Val599Gly)
c.1754T>G (p.Val585Gly)
n.216-734A>C
c.1865T>G (p.Val622Gly)
n.284-734A>C
Xg.47206085G>ACA516351813UBA1c.1713G>A (p.Val571=)
n.472G>A
c.1731G>A (p.Val577=)
c.1797G>A (p.Val599=)
c.1755G>A (p.Val585=)
n.216-735C>T
c.1866G>A (p.Val622=)
n.284-735C>T
 gnomAD v4
Xg.47206085G>CCA516351814UBA1c.1713G>C (p.Val571=)
n.472G>C
c.1731G>C (p.Val577=)
c.1797G>C (p.Val599=)
c.1755G>C (p.Val585=)
n.216-735C>G
c.1866G>C (p.Val622=)
n.284-735C>G
Xg.47206085G>TCA516351815UBA1c.1713G>T (p.Val571=)
n.472G>T
c.1731G>T (p.Val577=)
c.1797G>T (p.Val599=)
c.1755G>T (p.Val585=)
n.216-735C>A
c.1866G>T (p.Val622=)
n.284-735C>A
Xg.47206086G>ACA412802078UBA1c.1714G>A (p.Ala572Thr)
n.473G>A
c.1732G>A (p.Ala578Thr)
c.1798G>A (p.Ala600Thr)
c.1756G>A (p.Ala586Thr)
n.216-736C>T
c.1867G>A (p.Ala623Thr)
n.284-736C>T
Xg.47206086G>CCA412802080UBA1c.1714G>C (p.Ala572Pro)
n.473G>C
c.1732G>C (p.Ala578Pro)
c.1798G>C (p.Ala600Pro)
c.1756G>C (p.Ala586Pro)
n.216-736C>G
c.1867G>C (p.Ala623Pro)
n.284-736C>G
Xg.47206086G>TCA412802082UBA1c.1714G>T (p.Ala572Ser)
n.473G>T
c.1732G>T (p.Ala578Ser)
c.1798G>T (p.Ala600Ser)
c.1756G>T (p.Ala586Ser)
n.216-736C>A
c.1867G>T (p.Ala623Ser)
n.284-736C>A
 gnomAD v4
Xg.47206087C>ACA412802085UBA1c.1715C>A (p.Ala572Asp)
n.474C>A
c.1733C>A (p.Ala578Asp)
c.1799C>A (p.Ala600Asp)
c.1757C>A (p.Ala586Asp)
n.216-737G>T
c.1868C>A (p.Ala623Asp)
n.284-737G>T
 gnomAD v4
Xg.47206087C=CA2427845523UBA1c.1715C= (p.Ala572=)
n.474C=
c.1733C= (p.Ala578=)
c.1799C= (p.Ala600=)
c.1757C= (p.Ala586=)
n.216-737G=
c.1868C= (p.Ala623=)
n.284-737G=
Xg.47206087C>GCA412802087UBA1c.1715C>G (p.Ala572Gly)
n.474C>G
c.1733C>G (p.Ala578Gly)
c.1799C>G (p.Ala600Gly)
c.1757C>G (p.Ala586Gly)
n.216-737G>C
c.1868C>G (p.Ala623Gly)
n.284-737G>C
 dbSNP
Xg.47206087C>TCA412802089UBA1c.1715C>T (p.Ala572Val)
n.474C>T
c.1733C>T (p.Ala578Val)
c.1799C>T (p.Ala600Val)
c.1757C>T (p.Ala586Val)
n.216-737G>A
c.1868C>T (p.Ala623Val)
n.284-737G>A
 gnomAD v4
Xg.47206088delCA2693564278UBA1c.1716del (p.Asn573MetfsTer?)
n.475del
c.1734del (p.Asn579MetfsTer?)
c.1800del (p.Asn601MetfsTer?)
c.1758del (p.Asn587MetfsTer?)
n.216-737del
c.1869del (p.Asn624MetfsTer?)
n.284-737del
 gnomAD v4
Xg.47206088C>ACA516351816UBA1c.1716C>A (p.Ala572=)
n.475C>A
c.1734C>A (p.Ala578=)
c.1800C>A (p.Ala600=)
c.1758C>A (p.Ala586=)
n.216-738G>T
c.1869C>A (p.Ala623=)
n.284-738G>T
Xg.47206088C>GCA516351818UBA1c.1716C>G (p.Ala572=)
n.475C>G
c.1734C>G (p.Ala578=)
c.1800C>G (p.Ala600=)
c.1758C>G (p.Ala586=)
n.216-738G>C
c.1869C>G (p.Ala623=)
n.284-738G>C
Xg.47206088C>TCA516351817UBA1c.1716C>T (p.Ala572=)
n.475C>T
c.1734C>T (p.Ala578=)
c.1800C>T (p.Ala600=)
c.1758C>T (p.Ala586=)
n.216-738G>A
c.1869C>T (p.Ala623=)
n.284-738G>A
Xg.47206089A>CCA412802092UBA1c.1717A>C (p.Asn573His)
n.476A>C
c.1735A>C (p.Asn579His)
c.1801A>C (p.Asn601His)
c.1759A>C (p.Asn587His)
n.216-739T>G
c.1870A>C (p.Asn624His)
n.284-739T>G
Xg.47206089A>GCA412802095UBA1c.1717A>G (p.Asn573Asp)
n.476A>G
c.1735A>G (p.Asn579Asp)
c.1801A>G (p.Asn601Asp)
c.1759A>G (p.Asn587Asp)
n.216-739T>C
c.1870A>G (p.Asn624Asp)
n.284-739T>C
 gnomAD v4
Xg.47206089A>TCA412802098UBA1c.1717A>T (p.Asn573Tyr)
n.476A>T
c.1735A>T (p.Asn579Tyr)
c.1801A>T (p.Asn601Tyr)
c.1759A>T (p.Asn587Tyr)
n.216-739T>A
c.1870A>T (p.Asn624Tyr)
n.284-739T>A
Xg.47206090A=CA2427845524UBA1c.1718A= (p.Asn573=)
n.477A=
c.1736A= (p.Asn579=)
c.1802A= (p.Asn601=)
c.1760A= (p.Asn587=)
n.216-740T=
c.1871A= (p.Asn624=)
n.284-740T=
Xg.47206090A>CCA412802107UBA1c.1718A>C (p.Asn573Thr)
n.477A>C
c.1736A>C (p.Asn579Thr)
c.1802A>C (p.Asn601Thr)
c.1760A>C (p.Asn587Thr)
n.216-740T>G
c.1871A>C (p.Asn624Thr)
n.284-740T>G
Xg.47206090A>GCA10395983UBA1c.1718A>G (p.Asn573Ser)
n.477A>G
c.1736A>G (p.Asn579Ser)
c.1802A>G (p.Asn601Ser)
c.1760A>G (p.Asn587Ser)
n.216-740T>C
c.1871A>G (p.Asn624Ser)
n.284-740T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47206090A>TCA412802105UBA1c.1718A>T (p.Asn573Ile)
n.477A>T
c.1736A>T (p.Asn579Ile)
c.1802A>T (p.Asn601Ile)
c.1760A>T (p.Asn587Ile)
n.216-740T>A
c.1871A>T (p.Asn624Ile)
n.284-740T>A
Xg.47206091T>ACA412802112UBA1c.1719T>A (p.Asn573Lys)
n.478T>A
c.1737T>A (p.Asn579Lys)
c.1803T>A (p.Asn601Lys)
c.1761T>A (p.Asn587Lys)
n.216-741A>T
c.1872T>A (p.Asn624Lys)
n.284-741A>T
Xg.47206091T>CCA516351824UBA1c.1719T>C (p.Asn573=)
n.478T>C
c.1737T>C (p.Asn579=)
c.1803T>C (p.Asn601=)
c.1761T>C (p.Asn587=)
n.216-741A>G
c.1872T>C (p.Asn624=)
n.284-741A>G
 gnomAD v4
Xg.47206091T>GCA412802115UBA1c.1719T>G (p.Asn573Lys)
n.478T>G
c.1737T>G (p.Asn579Lys)
c.1803T>G (p.Asn601Lys)
c.1761T>G (p.Asn587Lys)
n.216-741A>C
c.1872T>G (p.Asn624Lys)
n.284-741A>C
Xg.47206092G>ACA412802119UBA1c.1720G>A (p.Ala574Thr)
n.479G>A
c.1738G>A (p.Ala580Thr)
c.1804G>A (p.Ala602Thr)
c.1762G>A (p.Ala588Thr)
n.216-742C>T
c.1873G>A (p.Ala625Thr)
n.284-742C>T
Xg.47206092G>CCA412802120UBA1c.1720G>C (p.Ala574Pro)
n.479G>C
c.1738G>C (p.Ala580Pro)
c.1804G>C (p.Ala602Pro)
c.1762G>C (p.Ala588Pro)
n.216-742C>G
c.1873G>C (p.Ala625Pro)
n.284-742C>G
Xg.47206092G>TCA412802121UBA1c.1720G>T (p.Ala574Ser)
n.479G>T
c.1738G>T (p.Ala580Ser)
c.1804G>T (p.Ala602Ser)
c.1762G>T (p.Ala588Ser)
n.216-742C>A
c.1873G>T (p.Ala625Ser)
n.284-742C>A
 gnomAD v4
Xg.47206093C>ACA412802122UBA1c.1721C>A (p.Ala574Asp)
n.480C>A
c.1739C>A (p.Ala580Asp)
c.1805C>A (p.Ala602Asp)
c.1763C>A (p.Ala588Asp)
n.216-743G>T
c.1874C>A (p.Ala625Asp)
n.284-743G>T
 gnomAD v4
Xg.47206093C>GCA412802123UBA1c.1721C>G (p.Ala574Gly)
n.480C>G
c.1739C>G (p.Ala580Gly)
c.1805C>G (p.Ala602Gly)
c.1763C>G (p.Ala588Gly)
n.216-743G>C
c.1874C>G (p.Ala625Gly)
n.284-743G>C
Xg.47206093C>TCA412802126UBA1c.1721C>T (p.Ala574Val)
n.480C>T
c.1739C>T (p.Ala580Val)
c.1805C>T (p.Ala602Val)
c.1763C>T (p.Ala588Val)
n.216-743G>A
c.1874C>T (p.Ala625Val)
n.284-743G>A
Xg.47206094C>ACA516351826UBA1c.1722C>A (p.Ala574=)
n.481C>A
c.1740C>A (p.Ala580=)
c.1806C>A (p.Ala602=)
c.1764C>A (p.Ala588=)
n.216-744G>T
c.1875C>A (p.Ala625=)
n.284-744G>T
Xg.47206094C>GCA516351827UBA1c.1722C>G (p.Ala574=)
n.481C>G
c.1740C>G (p.Ala580=)
c.1806C>G (p.Ala602=)
c.1764C>G (p.Ala588=)
n.216-744G>C
c.1875C>G (p.Ala625=)
n.284-744G>C
Xg.47206094C>TCA516351828UBA1c.1722C>T (p.Ala574=)
n.481C>T
c.1740C>T (p.Ala580=)
c.1806C>T (p.Ala602=)
c.1764C>T (p.Ala588=)
n.216-744G>A
c.1875C>T (p.Ala625=)
n.284-744G>A
Xg.47206095C>ACA412802128UBA1c.1723C>A (p.Leu575Met)
n.482C>A
c.1741C>A (p.Leu581Met)
c.1807C>A (p.Leu603Met)
c.1765C>A (p.Leu589Met)
n.216-745G>T
c.1876C>A (p.Leu626Met)
n.284-745G>T
Xg.47206095C=CA2427845525UBA1c.1723C= (p.Leu575=)
n.482C=
c.1741C= (p.Leu581=)
c.1807C= (p.Leu603=)
c.1765C= (p.Leu589=)
n.216-745G=
c.1876C= (p.Leu626=)
n.284-745G=
Xg.47206095C>GCA412802130UBA1c.1723C>G (p.Leu575Val)
n.482C>G
c.1741C>G (p.Leu581Val)
c.1807C>G (p.Leu603Val)
c.1765C>G (p.Leu589Val)
n.216-745G>C
c.1876C>G (p.Leu626Val)
n.284-745G>C
Xg.47206095C>TCA516351487UBA1c.1723C>T (p.Leu575=)
n.482C>T
c.1741C>T (p.Leu581=)
c.1807C>T (p.Leu603=)
c.1765C>T (p.Leu589=)
n.216-745G>A
c.1876C>T (p.Leu626=)
n.284-745G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.47206096T>ACA412802156UBA1c.1724T>A (p.Leu575Gln)
n.483T>A
c.1742T>A (p.Leu581Gln)
c.1808T>A (p.Leu603Gln)
c.1766T>A (p.Leu589Gln)
n.216-746A>T
c.1877T>A (p.Leu626Gln)
n.284-746A>T
Xg.47206096T>CCA412802147UBA1c.1724T>C (p.Leu575Pro)
n.483T>C
c.1742T>C (p.Leu581Pro)
c.1808T>C (p.Leu603Pro)
c.1766T>C (p.Leu589Pro)
n.216-746A>G
c.1877T>C (p.Leu626Pro)
n.284-746A>G
 gnomAD v4
Xg.47206096T>GCA412802134UBA1c.1724T>G (p.Leu575Arg)
n.483T>G
c.1742T>G (p.Leu581Arg)
c.1808T>G (p.Leu603Arg)
c.1766T>G (p.Leu589Arg)
n.216-746A>C
c.1877T>G (p.Leu626Arg)
n.284-746A>C
Xg.47206097G>ACA516351490UBA1c.1725G>A (p.Leu575=)
n.484G>A
c.1743G>A (p.Leu581=)
c.1809G>A (p.Leu603=)
c.1767G>A (p.Leu589=)
n.216-747C>T
c.1878G>A (p.Leu626=)
n.284-747C>T
 gnomAD v4
Xg.47206097G>CCA516351491UBA1c.1725G>C (p.Leu575=)
n.484G>C
c.1743G>C (p.Leu581=)
c.1809G>C (p.Leu603=)
c.1767G>C (p.Leu589=)
n.216-747C>G
c.1878G>C (p.Leu626=)
n.284-747C>G
Xg.47206097G>TCA516351489UBA1c.1725G>T (p.Leu575=)
n.484G>T
c.1743G>T (p.Leu581=)
c.1809G>T (p.Leu603=)
c.1767G>T (p.Leu589=)
n.216-747C>A
c.1878G>T (p.Leu626=)
n.284-747C>A
 gnomAD v4
Xg.47206098G>ACA412802159UBA1c.1726G>A (p.Asp576Asn)
n.485G>A
c.1744G>A (p.Asp582Asn)
c.1810G>A (p.Asp604Asn)
c.1768G>A (p.Asp590Asn)
n.216-748C>T
c.1879G>A (p.Asp627Asn)
n.284-748C>T
Xg.47206098G>CCA412802161UBA1c.1726G>C (p.Asp576His)
n.485G>C
c.1744G>C (p.Asp582His)
c.1810G>C (p.Asp604His)
c.1768G>C (p.Asp590His)
n.216-748C>G
c.1879G>C (p.Asp627His)
n.284-748C>G
Xg.47206098G>TCA412802164UBA1c.1726G>T (p.Asp576Tyr)
n.485G>T
c.1744G>T (p.Asp582Tyr)
c.1810G>T (p.Asp604Tyr)
c.1768G>T (p.Asp590Tyr)
n.216-748C>A
c.1879G>T (p.Asp627Tyr)
n.284-748C>A
 gnomAD v4
Xg.47206099A>CCA412802168UBA1c.1727A>C (p.Asp576Ala)
n.486A>C
c.1745A>C (p.Asp582Ala)
c.1811A>C (p.Asp604Ala)
c.1769A>C (p.Asp590Ala)
n.216-749T>G
c.1880A>C (p.Asp627Ala)
n.284-749T>G
Xg.47206099A>GCA412802171UBA1c.1727A>G (p.Asp576Gly)
n.486A>G
c.1745A>G (p.Asp582Gly)
c.1811A>G (p.Asp604Gly)
c.1769A>G (p.Asp590Gly)
n.216-749T>C
c.1880A>G (p.Asp627Gly)
n.284-749T>C
Xg.47206099A>TCA412802175UBA1c.1727A>T (p.Asp576Val)
n.486A>T
c.1745A>T (p.Asp582Val)
c.1811A>T (p.Asp604Val)
c.1769A>T (p.Asp590Val)
n.216-749T>A
c.1880A>T (p.Asp627Val)
n.284-749T>A
Xg.47206100C>ACA412802176UBA1c.1728C>A (p.Asp576Glu)
n.487C>A
c.1746C>A (p.Asp582Glu)
c.1812C>A (p.Asp604Glu)
c.1770C>A (p.Asp590Glu)
n.216-750G>T
c.1881C>A (p.Asp627Glu)
n.284-750G>T
 gnomAD v4
Xg.47206100C>GCA412802177UBA1c.1728C>G (p.Asp576Glu)
n.487C>G
c.1746C>G (p.Asp582Glu)
c.1812C>G (p.Asp604Glu)
c.1770C>G (p.Asp590Glu)
n.216-750G>C
c.1881C>G (p.Asp627Glu)
n.284-750G>C
Xg.47206100C>TCA516351496UBA1c.1728C>T (p.Asp576=)
n.487C>T
c.1746C>T (p.Asp582=)
c.1812C>T (p.Asp604=)
c.1770C>T (p.Asp590=)
n.216-750G>A
c.1881C>T (p.Asp627=)
n.284-750G>A
 gnomAD v4
Xg.47206101A>CCA412802178UBA1c.1729A>C (p.Asn577His)
n.488A>C
c.1747A>C (p.Asn583His)
c.1813A>C (p.Asn605His)
c.1771A>C (p.Asn591His)
n.216-751T>G
c.1882A>C (p.Asn628His)
n.284-751T>G
Xg.47206101A>GCA412802179UBA1c.1729A>G (p.Asn577Asp)
n.488A>G
c.1747A>G (p.Asn583Asp)
c.1813A>G (p.Asn605Asp)
c.1771A>G (p.Asn591Asp)
n.216-751T>C
c.1882A>G (p.Asn628Asp)
n.284-751T>C
 gnomAD v4
Xg.47206101A>TCA412802181UBA1c.1729A>T (p.Asn577Tyr)
n.488A>T
c.1747A>T (p.Asn583Tyr)
c.1813A>T (p.Asn605Tyr)
c.1771A>T (p.Asn591Tyr)
n.216-751T>A
c.1882A>T (p.Asn628Tyr)
n.284-751T>A
Xg.47206102A=CA2427845526UBA1c.1730A= (p.Asn577=)
n.489A=
c.1748A= (p.Asn583=)
c.1814A= (p.Asn605=)
c.1772A= (p.Asn591=)
n.216-752T=
c.1883A= (p.Asn628=)
n.284-752T=
Xg.47206102A>CCA412802190UBA1c.1730A>C (p.Asn577Thr)
n.489A>C
c.1748A>C (p.Asn583Thr)
c.1814A>C (p.Asn605Thr)
c.1772A>C (p.Asn591Thr)
n.216-752T>G
c.1883A>C (p.Asn628Thr)
n.284-752T>G
Xg.47206102A>GCA412802185UBA1c.1730A>G (p.Asn577Ser)
n.489A>G
c.1748A>G (p.Asn583Ser)
c.1814A>G (p.Asn605Ser)
c.1772A>G (p.Asn591Ser)
n.216-752T>C
c.1883A>G (p.Asn628Ser)
n.284-752T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47206102A>TCA412802184UBA1c.1730A>T (p.Asn577Ile)
n.489A>T
c.1748A>T (p.Asn583Ile)
c.1814A>T (p.Asn605Ile)
c.1772A>T (p.Asn591Ile)
n.216-752T>A
c.1883A>T (p.Asn628Ile)
n.284-752T>A
Xg.47206103C>ACA412802193UBA1c.1731C>A (p.Asn577Lys)
n.490C>A
c.1749C>A (p.Asn583Lys)
c.1815C>A (p.Asn605Lys)
c.1773C>A (p.Asn591Lys)
n.216-753G>T
c.1884C>A (p.Asn628Lys)
n.284-753G>T
 gnomAD v4
Xg.47206103C=CA2427845527UBA1c.1731C= (p.Asn577=)
n.490C=
c.1749C= (p.Asn583=)
c.1815C= (p.Asn605=)
c.1773C= (p.Asn591=)
n.216-753G=
c.1884C= (p.Asn628=)
n.284-753G=
Xg.47206103C>GCA412802196UBA1c.1731C>G (p.Asn577Lys)
n.490C>G
c.1749C>G (p.Asn583Lys)
c.1815C>G (p.Asn605Lys)
c.1773C>G (p.Asn591Lys)
n.216-753G>C
c.1884C>G (p.Asn628Lys)
n.284-753G>C
Xg.47206103C>TCA340955UBA1c.1731C>T (p.Asn577=)
n.490C>T
c.1749C>T (p.Asn583=)
c.1815C>T (p.Asn605=)
c.1773C>T (p.Asn591=)
n.216-753G>A
c.1884C>T (p.Asn628=)
n.284-753G>A
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.47206104G>ACA412802203UBA1c.1732G>A (p.Val578Met)
n.491G>A
c.1750G>A (p.Val584Met)
c.1816G>A (p.Val606Met)
c.1774G>A (p.Val592Met)
n.216-754C>T
c.1885G>A (p.Val629Met)
n.284-754C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.47206104G>CCA412802205UBA1c.1732G>C (p.Val578Leu)
n.491G>C
c.1750G>C (p.Val584Leu)
c.1816G>C (p.Val606Leu)
c.1774G>C (p.Val592Leu)
n.216-754C>G
c.1885G>C (p.Val629Leu)
n.284-754C>G
 gnomAD v4
Xg.47206104G=CA2427845528UBA1c.1732G= (p.Val578=)
n.491G=
c.1750G= (p.Val584=)
c.1816G= (p.Val606=)
c.1774G= (p.Val592=)
n.216-754C=
c.1885G= (p.Val629=)
n.284-754C=
Xg.47206104G>TCA412802208UBA1c.1732G>T (p.Val578Leu)
n.491G>T
c.1750G>T (p.Val584Leu)
c.1816G>T (p.Val606Leu)
c.1774G>T (p.Val592Leu)
n.216-754C>A
c.1885G>T (p.Val629Leu)
n.284-754C>A
Xg.47206105T>ACA412802211UBA1c.1733T>A (p.Val578Glu)
n.492T>A
c.1751T>A (p.Val584Glu)
c.1817T>A (p.Val606Glu)
c.1775T>A (p.Val592Glu)
n.216-755A>T
c.1886T>A (p.Val629Glu)
n.284-755A>T
Xg.47206105T>CCA412802212UBA1c.1733T>C (p.Val578Ala)
n.492T>C
c.1751T>C (p.Val584Ala)
c.1817T>C (p.Val606Ala)
c.1775T>C (p.Val592Ala)
n.216-755A>G
c.1886T>C (p.Val629Ala)
n.284-755A>G
 gnomAD v4
Xg.47206105T>GCA412802214UBA1c.1733T>G (p.Val578Gly)
n.492T>G
c.1751T>G (p.Val584Gly)
c.1817T>G (p.Val606Gly)
c.1775T>G (p.Val592Gly)
n.216-755A>C
c.1886T>G (p.Val629Gly)
n.284-755A>C
Xg.47206106G>ACA516351508UBA1c.1734G>A (p.Val578=)
n.493G>A
c.1752G>A (p.Val584=)
c.1818G>A (p.Val606=)
c.1776G>A (p.Val592=)
n.216-756C>T
c.1887G>A (p.Val629=)
n.284-756C>T
Xg.47206106G>CCA516351510UBA1c.1734G>C (p.Val578=)
n.493G>C
c.1752G>C (p.Val584=)
c.1818G>C (p.Val606=)
c.1776G>C (p.Val592=)
n.216-756C>G
c.1887G>C (p.Val629=)
n.284-756C>G
Xg.47206106G>TCA516351511UBA1c.1734G>T (p.Val578=)
n.493G>T
c.1752G>T (p.Val584=)
c.1818G>T (p.Val606=)
c.1776G>T (p.Val592=)
n.216-756C>A
c.1887G>T (p.Val629=)
n.284-756C>A
 gnomAD v4
Xg.47206107G>ACA412802217UBA1c.1735G>A (p.Asp579Asn)
n.494G>A
c.1753G>A (p.Asp585Asn)
c.1819G>A (p.Asp607Asn)
c.1777G>A (p.Asp593Asn)
n.216-757C>T
c.1888G>A (p.Asp630Asn)
n.284-757C>T
Xg.47206107G>CCA412802220UBA1c.1735G>C (p.Asp579His)
n.494G>C
c.1753G>C (p.Asp585His)
c.1819G>C (p.Asp607His)
c.1777G>C (p.Asp593His)
n.216-757C>G
c.1888G>C (p.Asp630His)
n.284-757C>G
Xg.47206107G>TCA412802223UBA1c.1735G>T (p.Asp579Tyr)
n.494G>T
c.1753G>T (p.Asp585Tyr)
c.1819G>T (p.Asp607Tyr)
c.1777G>T (p.Asp593Tyr)
n.216-757C>A
c.1888G>T (p.Asp630Tyr)
n.284-757C>A
Xg.47206108A>CCA412802236UBA1c.1736A>C (p.Asp579Ala)
n.495A>C
c.1754A>C (p.Asp585Ala)
c.1820A>C (p.Asp607Ala)
c.1778A>C (p.Asp593Ala)
n.216-758T>G
c.1889A>C (p.Asp630Ala)
n.284-758T>G
Xg.47206108A>GCA412802231UBA1c.1736A>G (p.Asp579Gly)
n.495A>G
c.1754A>G (p.Asp585Gly)
c.1820A>G (p.Asp607Gly)
c.1778A>G (p.Asp593Gly)
n.216-758T>C
c.1889A>G (p.Asp630Gly)
n.284-758T>C
Xg.47206108A>TCA412802227UBA1c.1736A>T (p.Asp579Val)
n.495A>T
c.1754A>T (p.Asp585Val)
c.1820A>T (p.Asp607Val)
c.1778A>T (p.Asp593Val)
n.216-758T>A
c.1889A>T (p.Asp630Val)
n.284-758T>A
Xg.47206109T>ACA412802239UBA1c.1737T>A (p.Asp579Glu)
n.496T>A
c.1755T>A (p.Asp585Glu)
c.1821T>A (p.Asp607Glu)
c.1779T>A (p.Asp593Glu)
n.216-759A>T
c.1890T>A (p.Asp630Glu)
n.284-759A>T
Xg.47206109T>CCA516351526UBA1c.1737T>C (p.Asp579=)
n.496T>C
c.1755T>C (p.Asp585=)
c.1821T>C (p.Asp607=)
c.1779T>C (p.Asp593=)
n.216-759A>G
c.1890T>C (p.Asp630=)
n.284-759A>G
Xg.47206109T>GCA412802242UBA1c.1737T>G (p.Asp579Glu)
n.496T>G
c.1755T>G (p.Asp585Glu)
c.1821T>G (p.Asp607Glu)
c.1779T>G (p.Asp593Glu)
n.216-759A>C
c.1890T>G (p.Asp630Glu)
n.284-759A>C
Xg.47206110G>ACA412802247UBA1c.1738G>A (p.Ala580Thr)
n.497G>A
c.1756G>A (p.Ala586Thr)
c.1822G>A (p.Ala608Thr)
c.1780G>A (p.Ala594Thr)
n.216-760C>T
c.1891G>A (p.Ala631Thr)
n.284-760C>T
Xg.47206110G>CCA412802249UBA1c.1738G>C (p.Ala580Pro)
n.497G>C
c.1756G>C (p.Ala586Pro)
c.1822G>C (p.Ala608Pro)
c.1780G>C (p.Ala594Pro)
n.216-760C>G
c.1891G>C (p.Ala631Pro)
n.284-760C>G
Xg.47206110G>TCA412802253UBA1c.1738G>T (p.Ala580Ser)
n.497G>T
c.1756G>T (p.Ala586Ser)
c.1822G>T (p.Ala608Ser)
c.1780G>T (p.Ala594Ser)
n.216-760C>A
c.1891G>T (p.Ala631Ser)
n.284-760C>A
Xg.47206111C>ACA412802256UBA1c.1739C>A (p.Ala580Asp)
n.498C>A
c.1757C>A (p.Ala586Asp)
c.1823C>A (p.Ala608Asp)
c.1781C>A (p.Ala594Asp)
n.216-761G>T
c.1892C>A (p.Ala631Asp)
n.284-761G>T
Xg.47206111C>GCA412802262UBA1c.1739C>G (p.Ala580Gly)
n.498C>G
c.1757C>G (p.Ala586Gly)
c.1823C>G (p.Ala608Gly)
c.1781C>G (p.Ala594Gly)
n.216-761G>C
c.1892C>G (p.Ala631Gly)
n.284-761G>C
Xg.47206111C>TCA412802267UBA1c.1739C>T (p.Ala580Val)
n.498C>T
c.1757C>T (p.Ala586Val)
c.1823C>T (p.Ala608Val)
c.1781C>T (p.Ala594Val)
n.216-761G>A
c.1892C>T (p.Ala631Val)
n.284-761G>A
 gnomAD v4
Xg.47206112C>ACA516351540UBA1c.1740C>A (p.Ala580=)
n.499C>A
c.1758C>A (p.Ala586=)
c.1824C>A (p.Ala608=)
c.1782C>A (p.Ala594=)
n.216-762G>T
c.1893C>A (p.Ala631=)
n.284-762G>T
 gnomAD v4
Xg.47206112C>GCA516351542UBA1c.1740C>G (p.Ala580=)
n.499C>G
c.1758C>G (p.Ala586=)
c.1824C>G (p.Ala608=)
c.1782C>G (p.Ala594=)
n.216-762G>C
c.1893C>G (p.Ala631=)
n.284-762G>C
Xg.47206112C>TCA516351545UBA1c.1740C>T (p.Ala580=)
n.499C>T
c.1758C>T (p.Ala586=)
c.1824C>T (p.Ala608=)
c.1782C>T (p.Ala594=)
n.216-762G>A
c.1893C>T (p.Ala631=)
n.284-762G>A
 dbSNP gnomAD v4
Xg.47206113C>ACA412802272UBA1c.1741C>A (p.Arg581Ser)
n.500C>A
c.1759C>A (p.Arg587Ser)
c.1825C>A (p.Arg609Ser)
c.1783C>A (p.Arg595Ser)
n.216-763G>T
c.1894C>A (p.Arg632Ser)
n.284-763G>T
 dbSNP gnomAD v4
Xg.47206113C=CA2427845529UBA1c.1741C= (p.Arg581=)
n.500C=
c.1759C= (p.Arg587=)
c.1825C= (p.Arg609=)
c.1783C= (p.Arg595=)
n.216-763G=
c.1894C= (p.Arg632=)
n.284-763G=
Xg.47206113C>GCA412802276UBA1c.1741C>G (p.Arg581Gly)
n.500C>G
c.1759C>G (p.Arg587Gly)
c.1825C>G (p.Arg609Gly)
c.1783C>G (p.Arg595Gly)
n.216-763G>C
c.1894C>G (p.Arg632Gly)
n.284-763G>C
Xg.47206113C>TCA412802278UBA1c.1741C>T (p.Arg581Cys)
n.500C>T
c.1759C>T (p.Arg587Cys)
c.1825C>T (p.Arg609Cys)
c.1783C>T (p.Arg595Cys)
n.216-763G>A
c.1894C>T (p.Arg632Cys)
n.284-763G>A
 gnomAD v4
Xg.47206114G>ACA412802281UBA1c.1741+1G>A (n.1741+1G>A)
n.500+1G>A
c.1759+1G>A (n.1759+1G>A)
c.1825+1G>A (n.1825+1G>A)
c.1783+1G>A (n.1783+1G>A)
n.216-764C>T
c.1894+1G>A (n.1894+1G>A)
n.284-764C>T
 gnomAD v4
Xg.47206114G>CCA412802290UBA1c.1741+1G>C (n.1741+1G>C)
n.500+1G>C
c.1759+1G>C (n.1759+1G>C)
c.1825+1G>C (n.1825+1G>C)
c.1783+1G>C (n.1783+1G>C)
n.216-764C>G
c.1894+1G>C (n.1894+1G>C)
n.284-764C>G
Xg.47206114G>TCA412802293UBA1c.1741+1G>T (n.1741+1G>T)
n.500+1G>T
c.1759+1G>T (n.1759+1G>T)
c.1825+1G>T (n.1825+1G>T)
c.1783+1G>T (n.1783+1G>T)
n.216-764C>A
c.1894+1G>T (n.1894+1G>T)
n.284-764C>A
 gnomAD v4
Xg.47206115_47206248delCA2820761683UBA1c.1741+2_1742del
n.500+2_501del
c.1759+2_1760del
c.1825+2_1826del
c.1783+2_1784del
n.216-897_216-764del
c.1894+2_1895del
n.284-897_284-764del
Xg.47206114_47206115insCATGTACATGGACCGCCGCCA2820761684UBA1c.1741+1_1741+2insCATGTACATGGACCGCCGC (n.1741+1_1741+2insCATGTACATGGACCGCCGC)
n.500+1_500+2insCATGTACATGGACCGCCGC
c.1759+1_1759+2insCATGTACATGGACCGCCGC (n.1759+1_1759+2insCATGTACATGGACCGCCGC)
c.1825+1_1825+2insCATGTACATGGACCGCCGC (n.1825+1_1825+2insCATGTACATGGACCGCCGC)
c.1783+1_1783+2insCATGTACATGGACCGCCGC (n.1783+1_1783+2insCATGTACATGGACCGCCGC)
n.216-765_216-764insGCGGCGGTCCATGTACATG
c.1894+1_1894+2insCATGTACATGGACCGCCGC (n.1894+1_1894+2insCATGTACATGGACCGCCGC)
n.284-765_284-764insGCGGCGGTCCATGTACATG
Xg.47206114_47206115insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCCA2738502663UBA1c.1741+1_1741+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1741+1_1741+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC)
n.500+1_500+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC
c.1759+1_1759+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1759+1_1759+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC)
c.1825+1_1825+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1825+1_1825+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC)
c.1783+1_1783+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1783+1_1783+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC)
n.216-765_216-764insGCAGTGGCTTCCGGTAGTAGACACAGCGGCGGTCCATGTACATG
c.1894+1_1894+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1894+1_1894+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC)
n.284-765_284-764insGCAGTGGCTTCCGGTAGTAGACACAGCGGCGGTCCATGTACATG
 dbSNP
Xg.47206115T>ACA412802306UBA1c.1741+2T>A (n.1741+2T>A)
n.500+2T>A
c.1759+2T>A (n.1759+2T>A)
c.1825+2T>A (n.1825+2T>A)
c.1783+2T>A (n.1783+2T>A)
n.216-765A>T
c.1894+2T>A (n.1894+2T>A)
n.284-765A>T
Xg.47206115T>CCA412802300UBA1c.1741+2T>C (n.1741+2T>C)
n.500+2T>C
c.1759+2T>C (n.1759+2T>C)
c.1825+2T>C (n.1825+2T>C)
c.1783+2T>C (n.1783+2T>C)
n.216-765A>G
c.1894+2T>C (n.1894+2T>C)
n.284-765A>G
 gnomAD v4
Xg.47206115T>GCA412802302UBA1c.1741+2T>G (n.1741+2T>G)
n.500+2T>G
c.1759+2T>G (n.1759+2T>G)
c.1825+2T>G (n.1825+2T>G)
c.1783+2T>G (n.1783+2T>G)
n.216-765A>C
c.1894+2T>G (n.1894+2T>G)
n.284-765A>C
 gnomAD v4
Xg.47206117A>TCA2820761685UBA1c.1741+4A>T (n.1741+4A>T)
n.500+4A>T
c.1759+4A>T (n.1759+4A>T)
c.1825+4A>T (n.1825+4A>T)
c.1783+4A>T (n.1783+4A>T)
n.216-767T>A
c.1894+4A>T (n.1894+4A>T)
n.284-767T>A
Xg.47206120T>CCA2565431243UBA1c.1741+7T>C (n.1741+7T>C)
n.500+7T>C
c.1759+7T>C (n.1759+7T>C)
c.1825+7T>C (n.1825+7T>C)
c.1783+7T>C (n.1783+7T>C)
n.216-770A>G
c.1894+7T>C (n.1894+7T>C)
n.284-770A>G
Xg.47206122G>TCA2693564279UBA1c.1741+9G>T (n.1741+9G>T)
n.500+9G>T
c.1759+9G>T (n.1759+9G>T)
c.1825+9G>T (n.1825+9G>T)
c.1783+9G>T (n.1783+9G>T)
n.216-772C>A
c.1894+9G>T (n.1894+9G>T)
n.284-772C>A
 gnomAD v4
Xg.47206124A>GCA2693564280UBA1c.1741+11A>G (n.1741+11A>G)
n.500+11A>G
c.1759+11A>G (n.1759+11A>G)
c.1825+11A>G (n.1825+11A>G)
c.1783+11A>G (n.1783+11A>G)
n.216-774T>C
c.1894+11A>G (n.1894+11A>G)
n.284-774T>C
 gnomAD v4
Xg.47206125G>TCA2693564281UBA1c.1741+12G>T (n.1741+12G>T)
n.500+12G>T
c.1759+12G>T (n.1759+12G>T)
c.1825+12G>T (n.1825+12G>T)
c.1783+12G>T (n.1783+12G>T)
n.216-775C>A
c.1894+12G>T (n.1894+12G>T)
n.284-775C>A
 gnomAD v4
Xg.47206126G>ACA2820761686UBA1c.1741+13G>A (n.1741+13G>A)
n.500+13G>A
c.1759+13G>A (n.1759+13G>A)
c.1825+13G>A (n.1825+13G>A)
c.1783+13G>A (n.1783+13G>A)
n.216-776C>T
c.1894+13G>A (n.1894+13G>A)
n.284-776C>T
Xg.47206126G>CCA2693564282UBA1c.1741+13G>C (n.1741+13G>C)
n.500+13G>C
c.1759+13G>C (n.1759+13G>C)
c.1825+13G>C (n.1825+13G>C)
c.1783+13G>C (n.1783+13G>C)
n.216-776C>G
c.1894+13G>C (n.1894+13G>C)
n.284-776C>G
 gnomAD v4
Xg.47206127C>ACA2693564283UBA1c.1741+14C>A (n.1741+14C>A)
n.500+14C>A
c.1759+14C>A (n.1759+14C>A)
c.1825+14C>A (n.1825+14C>A)
c.1783+14C>A (n.1783+14C>A)
n.216-777G>T
c.1894+14C>A (n.1894+14C>A)
n.284-777G>T
 gnomAD v4
Xg.47206127C=CA2427845530UBA1c.1741+14C= (n.1741+14C=)
n.500+14C=
c.1759+14C= (n.1759+14C=)
c.1825+14C= (n.1825+14C=)
c.1783+14C= (n.1783+14C=)
n.216-777G=
c.1894+14C= (n.1894+14C=)
n.284-777G=
Xg.47206127C>TCA641900375UBA1c.1741+14C>T (n.1741+14C>T)
n.500+14C>T
c.1759+14C>T (n.1759+14C>T)
c.1825+14C>T (n.1825+14C>T)
c.1783+14C>T (n.1783+14C>T)
n.216-777G>A
c.1894+14C>T (n.1894+14C>T)
n.284-777G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.47206128G>ACA641900376UBA1c.1741+15G>A (n.1741+15G>A)
n.500+15G>A
c.1759+15G>A (n.1759+15G>A)
c.1825+15G>A (n.1825+15G>A)
c.1783+15G>A (n.1783+15G>A)
n.216-778C>T
c.1894+15G>A (n.1894+15G>A)
n.284-778C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206128G=CA2427845531UBA1c.1741+15G= (n.1741+15G=)
n.500+15G=
c.1759+15G= (n.1759+15G=)
c.1825+15G= (n.1825+15G=)
c.1783+15G= (n.1783+15G=)
n.216-778C=
c.1894+15G= (n.1894+15G=)
n.284-778C=
Xg.47206128G>TCA2693564284UBA1c.1741+15G>T (n.1741+15G>T)
n.500+15G>T
c.1759+15G>T (n.1759+15G>T)
c.1825+15G>T (n.1825+15G>T)
c.1783+15G>T (n.1783+15G>T)
n.216-778C>A
c.1894+15G>T (n.1894+15G>T)
n.284-778C>A
 gnomAD v4
Xg.47206129G>ACA2693564285UBA1c.1741+16G>A (n.1741+16G>A)
n.500+16G>A
c.1759+16G>A (n.1759+16G>A)
c.1825+16G>A (n.1825+16G>A)
c.1783+16G>A (n.1783+16G>A)
n.216-779C>T
c.1894+16G>A (n.1894+16G>A)
n.284-779C>T
 gnomAD v4
Xg.47206130G>ACA2427845533UBA1c.1741+17G>A (n.1741+17G>A)
n.500+17G>A
c.1759+17G>A (n.1759+17G>A)
c.1825+17G>A (n.1825+17G>A)
c.1783+17G>A (n.1783+17G>A)
n.216-780C>T
c.1894+17G>A (n.1894+17G>A)
n.284-780C>T
 dbSNP
Xg.47206130G=CA2427845532UBA1c.1741+17G= (n.1741+17G=)
n.500+17G=
c.1759+17G= (n.1759+17G=)
c.1825+17G= (n.1825+17G=)
c.1783+17G= (n.1783+17G=)
n.216-780C=
c.1894+17G= (n.1894+17G=)
n.284-780C=
Xg.47206131T>CCA2693564286UBA1c.1741+18T>C (n.1741+18T>C)
n.500+18T>C
c.1759+18T>C (n.1759+18T>C)
c.1825+18T>C (n.1825+18T>C)
c.1783+18T>C (n.1783+18T>C)
n.216-781A>G
c.1894+18T>C (n.1894+18T>C)
n.284-781A>G
 gnomAD v4
Xg.47206131T>GCA2693564287UBA1c.1741+18T>G (n.1741+18T>G)
n.500+18T>G
c.1759+18T>G (n.1759+18T>G)
c.1825+18T>G (n.1825+18T>G)
c.1783+18T>G (n.1783+18T>G)
n.216-781A>C
c.1894+18T>G (n.1894+18T>G)
n.284-781A>C
 gnomAD v4
Xg.47206132G>TCA2566293403UBA1c.1741+19G>T (n.1741+19G>T)
n.500+19G>T
c.1759+19G>T (n.1759+19G>T)
c.1825+19G>T (n.1825+19G>T)
c.1783+19G>T (n.1783+19G>T)
n.216-782C>A
c.1894+19G>T (n.1894+19G>T)
n.284-782C>A
 gnomAD v4
Xg.47206133A=CA2427845534UBA1c.1741+20A= (n.1741+20A=)
n.500+20A=
c.1759+20A= (n.1759+20A=)
c.1825+20A= (n.1825+20A=)
c.1783+20A= (n.1783+20A=)
n.216-783T=
c.1894+20A= (n.1894+20A=)
n.284-783T=
Xg.47206133A>GCA10395984UBA1c.1741+20A>G (n.1741+20A>G)
n.500+20A>G
c.1759+20A>G (n.1759+20A>G)
c.1825+20A>G (n.1825+20A>G)
c.1783+20A>G (n.1783+20A>G)
n.216-783T>C
c.1894+20A>G (n.1894+20A>G)
n.284-783T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206137_47206139delCA2579594783UBA1c.1741+24_1741+26del (n.1741+24_1741+26del)
n.500+24_500+26del
c.1759+24_1759+26del (n.1759+24_1759+26del)
c.1825+24_1825+26del (n.1825+24_1825+26del)
c.1783+24_1783+26del (n.1783+24_1783+26del)
n.216-786_216-784del
c.1894+24_1894+26del (n.1894+24_1894+26del)
n.284-786_284-784del
 gnomAD v4
Xg.47206135G>ACA641900377UBA1c.1741+22G>A (n.1741+22G>A)
n.500+22G>A
c.1759+22G>A (n.1759+22G>A)
c.1825+22G>A (n.1825+22G>A)
c.1783+22G>A (n.1783+22G>A)
n.216-785C>T
c.1894+22G>A (n.1894+22G>A)
n.284-785C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.47206135G=CA2427845535UBA1c.1741+22G= (n.1741+22G=)
n.500+22G=
c.1759+22G= (n.1759+22G=)
c.1825+22G= (n.1825+22G=)
c.1783+22G= (n.1783+22G=)
n.216-785C=
c.1894+22G= (n.1894+22G=)
n.284-785C=

Number of alleles fetched