| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47206003G>A | CA412801370 | UBA1 | c.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 |
| X | g.47206003G>C | CA412801361 | UBA1 | c.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 | |
| X | g.47206003G= | CA2427845507 | UBA1 | c.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= | |
| X | g.47206003G>T | CA412801367 | UBA1 | c.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 |
| X | g.47206004G>A | CA516351743 | UBA1 | c.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 | |
| X | g.47206004G>C | CA516351744 | UBA1 | c.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 | |
| X | g.47206004G>T | CA516351745 | UBA1 | c.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 | |
| X | g.47206005G>A | CA412801373 | UBA1 | c.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 |
| X | g.47206005G>C | CA412801375 | UBA1 | c.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 | |
| X | g.47206005G>T | CA412801378 | UBA1 | c.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 |
| X | g.47206006T>A | CA412801383 | UBA1 | c.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 | |
| X | g.47206006T>C | CA412801387 | UBA1 | c.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 | |
| X | g.47206006T>G | CA412801392 | UBA1 | c.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 | |
| X | g.47206007G>A | CA516351751 | UBA1 | c.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 |
| X | g.47206007G>C | CA516351750 | UBA1 | c.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 | |
| X | g.47206007G>T | CA516351749 | UBA1 | c.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 | |
| X | g.47206008A>C | CA412801396 | UBA1 | c.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 | |
| X | g.47206008A>G | CA412801399 | UBA1 | c.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 | |
| X | g.47206008A>T | CA412801402 | UBA1 | c.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 | |
| X | g.47206009C>A | CA412801409 | UBA1 | c.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 | |
| X | g.47206009C>G | CA412801407 | UBA1 | c.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 | |
| X | g.47206009C>T | CA412801405 | UBA1 | c.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 | |
| X | g.47206010A= | CA2427845508 | UBA1 | c.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= | |
| X | g.47206010A>C | CA516351752 | UBA1 | c.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 | |
| X | g.47206010A>G | CA10395976 | UBA1 | c.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 |
| X | g.47206010A>T | CA516351753 | UBA1 | c.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 | |
| X | g.47206011A= | CA2427845509 | UBA1 | c.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= | |
| X | g.47206011A>C | CA412801414 | UBA1 | c.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 | |
| X | g.47206011A>G | CA340953 | UBA1 | c.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 |
| X | g.47206011A>T | CA412801417 | UBA1 | c.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 | |
| X | g.47206012G>A | CA412801418 | UBA1 | c.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 | |
| X | g.47206012G>C | CA412801419 | UBA1 | c.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 | |
| X | g.47206012G>T | CA412801422 | UBA1 | c.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 | |
| X | g.47206013C>A | CA412801425 | UBA1 | c.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 | |
| X | g.47206013C>G | CA412801436 | UBA1 | c.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 |
| X | g.47206013C>T | CA516351757 | UBA1 | c.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 | |
| X | g.47206014C>A | CA412801439 | UBA1 | c.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 | |
| X | g.47206014C>G | CA412801448 | UBA1 | c.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 | |
| X | g.47206014C>T | CA412801450 | UBA1 | c.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 | |
| X | g.47206015A>C | CA412801460 | UBA1 | c.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 | |
| X | g.47206015A>G | CA412801456 | UBA1 | c.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 | |
| X | g.47206015A>T | CA412801454 | UBA1 | c.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 | |
| X | g.47206016C>A | CA412801465 | UBA1 | c.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 | |
| X | g.47206016C>G | CA412801466 | UBA1 | c.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 |
| X | g.47206016C>T | CA516351759 | UBA1 | c.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 | |
| X | g.47206017C>A | CA412801467 | UBA1 | c.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 | |
| X | g.47206017C>G | CA412801468 | UBA1 | c.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 | |
| X | g.47206017C>T | CA412801469 | UBA1 | c.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 | |
| X | g.47206018A>C | CA412801470 | UBA1 | c.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 | |
| X | g.47206018A>G | CA412801472 | UBA1 | c.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 |