Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47206003G>ACA412801370UBA1c.1631G>A (p.Arg544Gln)
n.465-75G>A
c.1649G>A (p.Arg550Gln)
c.1715G>A (p.Arg572Gln)
c.1673G>A (p.Arg558Gln)
n.216-653C>T
c.1784G>A (p.Arg595Gln)
n.284-653C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47206003G>CCA412801361UBA1c.1631G>C (p.Arg544Pro)
n.465-75G>C
c.1649G>C (p.Arg550Pro)
c.1715G>C (p.Arg572Pro)
c.1673G>C (p.Arg558Pro)
n.216-653C>G
c.1784G>C (p.Arg595Pro)
n.284-653C>G
Xg.47206003G=CA2427845507UBA1c.1631G= (p.Arg544=)
n.465-75G=
c.1649G= (p.Arg550=)
c.1715G= (p.Arg572=)
c.1673G= (p.Arg558=)
n.216-653C=
c.1784G= (p.Arg595=)
n.284-653C=
Xg.47206003G>TCA412801367UBA1c.1631G>T (p.Arg544Leu)
n.465-75G>T
c.1649G>T (p.Arg550Leu)
c.1715G>T (p.Arg572Leu)
c.1673G>T (p.Arg558Leu)
n.216-653C>A
c.1784G>T (p.Arg595Leu)
n.284-653C>A
 gnomAD v4
Xg.47206004G>ACA516351743UBA1c.1632G>A (p.Arg544=)
n.465-74G>A
c.1650G>A (p.Arg550=)
c.1716G>A (p.Arg572=)
c.1674G>A (p.Arg558=)
n.216-654C>T
c.1785G>A (p.Arg595=)
n.284-654C>T
Xg.47206004G>CCA516351744UBA1c.1632G>C (p.Arg544=)
n.465-74G>C
c.1650G>C (p.Arg550=)
c.1716G>C (p.Arg572=)
c.1674G>C (p.Arg558=)
n.216-654C>G
c.1785G>C (p.Arg595=)
n.284-654C>G
Xg.47206004G>TCA516351745UBA1c.1632G>T (p.Arg544=)
n.465-74G>T
c.1650G>T (p.Arg550=)
c.1716G>T (p.Arg572=)
c.1674G>T (p.Arg558=)
n.216-654C>A
c.1785G>T (p.Arg595=)
n.284-654C>A
Xg.47206005G>ACA412801373UBA1c.1633G>A (p.Val545Met)
n.465-73G>A
c.1651G>A (p.Val551Met)
c.1717G>A (p.Val573Met)
c.1675G>A (p.Val559Met)
n.216-655C>T
c.1786G>A (p.Val596Met)
n.284-655C>T
 gnomAD v4
Xg.47206005G>CCA412801375UBA1c.1633G>C (p.Val545Leu)
n.465-73G>C
c.1651G>C (p.Val551Leu)
c.1717G>C (p.Val573Leu)
c.1675G>C (p.Val559Leu)
n.216-655C>G
c.1786G>C (p.Val596Leu)
n.284-655C>G
Xg.47206005G>TCA412801378UBA1c.1633G>T (p.Val545Leu)
n.465-73G>T
c.1651G>T (p.Val551Leu)
c.1717G>T (p.Val573Leu)
c.1675G>T (p.Val559Leu)
n.216-655C>A
c.1786G>T (p.Val596Leu)
n.284-655C>A
 gnomAD v4
Xg.47206006T>ACA412801383UBA1c.1634T>A (p.Val545Glu)
n.465-72T>A
c.1652T>A (p.Val551Glu)
c.1718T>A (p.Val573Glu)
c.1676T>A (p.Val559Glu)
n.216-656A>T
c.1787T>A (p.Val596Glu)
n.284-656A>T
Xg.47206006T>CCA412801387UBA1c.1634T>C (p.Val545Ala)
n.465-72T>C
c.1652T>C (p.Val551Ala)
c.1718T>C (p.Val573Ala)
c.1676T>C (p.Val559Ala)
n.216-656A>G
c.1787T>C (p.Val596Ala)
n.284-656A>G
Xg.47206006T>GCA412801392UBA1c.1634T>G (p.Val545Gly)
n.465-72T>G
c.1652T>G (p.Val551Gly)
c.1718T>G (p.Val573Gly)
c.1676T>G (p.Val559Gly)
n.216-656A>C
c.1787T>G (p.Val596Gly)
n.284-656A>C
Xg.47206007G>ACA516351751UBA1c.1635G>A (p.Val545=)
n.465-71G>A
c.1653G>A (p.Val551=)
c.1719G>A (p.Val573=)
c.1677G>A (p.Val559=)
n.216-657C>T
c.1788G>A (p.Val596=)
n.284-657C>T
 gnomAD v4
Xg.47206007G>CCA516351750UBA1c.1635G>C (p.Val545=)
n.465-71G>C
c.1653G>C (p.Val551=)
c.1719G>C (p.Val573=)
c.1677G>C (p.Val559=)
n.216-657C>G
c.1788G>C (p.Val596=)
n.284-657C>G
Xg.47206007G>TCA516351749UBA1c.1635G>T (p.Val545=)
n.465-71G>T
c.1653G>T (p.Val551=)
c.1719G>T (p.Val573=)
c.1677G>T (p.Val559=)
n.216-657C>A
c.1788G>T (p.Val596=)
n.284-657C>A
Xg.47206008A>CCA412801396UBA1c.1636A>C (p.Thr546Pro)
n.465-70A>C
c.1654A>C (p.Thr552Pro)
c.1720A>C (p.Thr574Pro)
c.1678A>C (p.Thr560Pro)
n.216-658T>G
c.1789A>C (p.Thr597Pro)
n.284-658T>G
Xg.47206008A>GCA412801399UBA1c.1636A>G (p.Thr546Ala)
n.465-70A>G
c.1654A>G (p.Thr552Ala)
c.1720A>G (p.Thr574Ala)
c.1678A>G (p.Thr560Ala)
n.216-658T>C
c.1789A>G (p.Thr597Ala)
n.284-658T>C
Xg.47206008A>TCA412801402UBA1c.1636A>T (p.Thr546Ser)
n.465-70A>T
c.1654A>T (p.Thr552Ser)
c.1720A>T (p.Thr574Ser)
c.1678A>T (p.Thr560Ser)
n.216-658T>A
c.1789A>T (p.Thr597Ser)
n.284-658T>A
Xg.47206009C>ACA412801409UBA1c.1637C>A (p.Thr546Lys)
n.465-69C>A
c.1655C>A (p.Thr552Lys)
c.1721C>A (p.Thr574Lys)
c.1679C>A (p.Thr560Lys)
n.216-659G>T
c.1790C>A (p.Thr597Lys)
n.284-659G>T
Xg.47206009C>GCA412801407UBA1c.1637C>G (p.Thr546Arg)
n.465-69C>G
c.1655C>G (p.Thr552Arg)
c.1721C>G (p.Thr574Arg)
c.1679C>G (p.Thr560Arg)
n.216-659G>C
c.1790C>G (p.Thr597Arg)
n.284-659G>C
Xg.47206009C>TCA412801405UBA1c.1637C>T (p.Thr546Ile)
n.465-69C>T
c.1655C>T (p.Thr552Ile)
c.1721C>T (p.Thr574Ile)
c.1679C>T (p.Thr560Ile)
n.216-659G>A
c.1790C>T (p.Thr597Ile)
n.284-659G>A
Xg.47206010A=CA2427845508UBA1c.1638A= (p.Thr546=)
n.465-68A=
c.1656A= (p.Thr552=)
c.1722A= (p.Thr574=)
c.1680A= (p.Thr560=)
n.216-660T=
c.1791A= (p.Thr597=)
n.284-660T=
Xg.47206010A>CCA516351752UBA1c.1638A>C (p.Thr546=)
n.465-68A>C
c.1656A>C (p.Thr552=)
c.1722A>C (p.Thr574=)
c.1680A>C (p.Thr560=)
n.216-660T>G
c.1791A>C (p.Thr597=)
n.284-660T>G
Xg.47206010A>GCA10395976UBA1c.1638A>G (p.Thr546=)
n.465-68A>G
c.1656A>G (p.Thr552=)
c.1722A>G (p.Thr574=)
c.1680A>G (p.Thr560=)
n.216-660T>C
c.1791A>G (p.Thr597=)
n.284-660T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47206010A>TCA516351753UBA1c.1638A>T (p.Thr546=)
n.465-68A>T
c.1656A>T (p.Thr552=)
c.1722A>T (p.Thr574=)
c.1680A>T (p.Thr560=)
n.216-660T>A
c.1791A>T (p.Thr597=)
n.284-660T>A
Xg.47206011A=CA2427845509UBA1c.1639A= (p.Ser547=)
n.465-67A=
c.1657A= (p.Ser553=)
c.1723A= (p.Ser575=)
c.1681A= (p.Ser561=)
n.216-661T=
c.1792A= (p.Ser598=)
n.284-661T=
Xg.47206011A>CCA412801414UBA1c.1639A>C (p.Ser547Arg)
n.465-67A>C
c.1657A>C (p.Ser553Arg)
c.1723A>C (p.Ser575Arg)
c.1681A>C (p.Ser561Arg)
n.216-661T>G
c.1792A>C (p.Ser598Arg)
n.284-661T>G
Xg.47206011A>GCA340953UBA1c.1639A>G (p.Ser547Gly)
n.465-67A>G
c.1657A>G (p.Ser553Gly)
c.1723A>G (p.Ser575Gly)
c.1681A>G (p.Ser561Gly)
n.216-661T>C
c.1792A>G (p.Ser598Gly)
n.284-661T>C
 ClinVar dbSNP
Xg.47206011A>TCA412801417UBA1c.1639A>T (p.Ser547Cys)
n.465-67A>T
c.1657A>T (p.Ser553Cys)
c.1723A>T (p.Ser575Cys)
c.1681A>T (p.Ser561Cys)
n.216-661T>A
c.1792A>T (p.Ser598Cys)
n.284-661T>A
Xg.47206012G>ACA412801418UBA1c.1640G>A (p.Ser547Asn)
n.465-66G>A
c.1658G>A (p.Ser553Asn)
c.1724G>A (p.Ser575Asn)
c.1682G>A (p.Ser561Asn)
n.216-662C>T
c.1793G>A (p.Ser598Asn)
n.284-662C>T
Xg.47206012G>CCA412801419UBA1c.1640G>C (p.Ser547Thr)
n.465-66G>C
c.1658G>C (p.Ser553Thr)
c.1724G>C (p.Ser575Thr)
c.1682G>C (p.Ser561Thr)
n.216-662C>G
c.1793G>C (p.Ser598Thr)
n.284-662C>G
Xg.47206012G>TCA412801422UBA1c.1640G>T (p.Ser547Ile)
n.465-66G>T
c.1658G>T (p.Ser553Ile)
c.1724G>T (p.Ser575Ile)
c.1682G>T (p.Ser561Ile)
n.216-662C>A
c.1793G>T (p.Ser598Ile)
n.284-662C>A
Xg.47206013C>ACA412801425UBA1c.1641C>A (p.Ser547Arg)
n.465-65C>A
c.1659C>A (p.Ser553Arg)
c.1725C>A (p.Ser575Arg)
c.1683C>A (p.Ser561Arg)
n.216-663G>T
c.1794C>A (p.Ser598Arg)
n.284-663G>T
Xg.47206013C>GCA412801436UBA1c.1641C>G (p.Ser547Arg)
n.465-65C>G
c.1659C>G (p.Ser553Arg)
c.1725C>G (p.Ser575Arg)
c.1683C>G (p.Ser561Arg)
n.216-663G>C
c.1794C>G (p.Ser598Arg)
n.284-663G>C
 gnomAD v4
Xg.47206013C>TCA516351757UBA1c.1641C>T (p.Ser547=)
n.465-65C>T
c.1659C>T (p.Ser553=)
c.1725C>T (p.Ser575=)
c.1683C>T (p.Ser561=)
n.216-663G>A
c.1794C>T (p.Ser598=)
n.284-663G>A
Xg.47206014C>ACA412801439UBA1c.1642C>A (p.His548Asn)
n.465-64C>A
c.1660C>A (p.His554Asn)
c.1726C>A (p.His576Asn)
c.1684C>A (p.His562Asn)
n.216-664G>T
c.1795C>A (p.His599Asn)
n.284-664G>T
Xg.47206014C>GCA412801448UBA1c.1642C>G (p.His548Asp)
n.465-64C>G
c.1660C>G (p.His554Asp)
c.1726C>G (p.His576Asp)
c.1684C>G (p.His562Asp)
n.216-664G>C
c.1795C>G (p.His599Asp)
n.284-664G>C
Xg.47206014C>TCA412801450UBA1c.1642C>T (p.His548Tyr)
n.465-64C>T
c.1660C>T (p.His554Tyr)
c.1726C>T (p.His576Tyr)
c.1684C>T (p.His562Tyr)
n.216-664G>A
c.1795C>T (p.His599Tyr)
n.284-664G>A
Xg.47206015A>CCA412801460UBA1c.1643A>C (p.His548Pro)
n.465-63A>C
c.1661A>C (p.His554Pro)
c.1727A>C (p.His576Pro)
c.1685A>C (p.His562Pro)
n.216-665T>G
c.1796A>C (p.His599Pro)
n.284-665T>G
Xg.47206015A>GCA412801456UBA1c.1643A>G (p.His548Arg)
n.465-63A>G
c.1661A>G (p.His554Arg)
c.1727A>G (p.His576Arg)
c.1685A>G (p.His562Arg)
n.216-665T>C
c.1796A>G (p.His599Arg)
n.284-665T>C
Xg.47206015A>TCA412801454UBA1c.1643A>T (p.His548Leu)
n.465-63A>T
c.1661A>T (p.His554Leu)
c.1727A>T (p.His576Leu)
c.1685A>T (p.His562Leu)
n.216-665T>A
c.1796A>T (p.His599Leu)
n.284-665T>A
Xg.47206016C>ACA412801465UBA1c.1644C>A (p.His548Gln)
n.465-62C>A
c.1662C>A (p.His554Gln)
c.1728C>A (p.His576Gln)
c.1686C>A (p.His562Gln)
n.216-666G>T
c.1797C>A (p.His599Gln)
n.284-666G>T
Xg.47206016C>GCA412801466UBA1c.1644C>G (p.His548Gln)
n.465-62C>G
c.1662C>G (p.His554Gln)
c.1728C>G (p.His576Gln)
c.1686C>G (p.His562Gln)
n.216-666G>C
c.1797C>G (p.His599Gln)
n.284-666G>C
 gnomAD v4
Xg.47206016C>TCA516351759UBA1c.1644C>T (p.His548=)
n.465-62C>T
c.1662C>T (p.His554=)
c.1728C>T (p.His576=)
c.1686C>T (p.His562=)
n.216-666G>A
c.1797C>T (p.His599=)
n.284-666G>A
Xg.47206017C>ACA412801467UBA1c.1645C>A (p.Gln549Lys)
n.465-61C>A
c.1663C>A (p.Gln555Lys)
c.1729C>A (p.Gln577Lys)
c.1687C>A (p.Gln563Lys)
n.216-667G>T
c.1798C>A (p.Gln600Lys)
n.284-667G>T
Xg.47206017C>GCA412801468UBA1c.1645C>G (p.Gln549Glu)
n.465-61C>G
c.1663C>G (p.Gln555Glu)
c.1729C>G (p.Gln577Glu)
c.1687C>G (p.Gln563Glu)
n.216-667G>C
c.1798C>G (p.Gln600Glu)
n.284-667G>C
Xg.47206017C>TCA412801469UBA1c.1645C>T (p.Gln549Ter)
n.465-61C>T
c.1663C>T (p.Gln555Ter)
c.1729C>T (p.Gln577Ter)
c.1687C>T (p.Gln563Ter)
n.216-667G>A
c.1798C>T (p.Gln600Ter)
n.284-667G>A
Xg.47206018A>CCA412801470UBA1c.1646A>C (p.Gln549Pro)
n.465-60A>C
c.1664A>C (p.Gln555Pro)
c.1730A>C (p.Gln577Pro)
c.1688A>C (p.Gln563Pro)
n.216-668T>G
c.1799A>C (p.Gln600Pro)
n.284-668T>G
Xg.47206018A>GCA412801472UBA1c.1646A>G (p.Gln549Arg)
n.465-60A>G
c.1664A>G (p.Gln555Arg)
c.1730A>G (p.Gln577Arg)
c.1688A>G (p.Gln563Arg)
n.216-668T>C
c.1799A>G (p.Gln600Arg)
n.284-668T>C

Number of alleles fetched