Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812387_110812397delCA2573145560RBM20c.1990_2000del (p.Pro664Ter)
c.1606_1616del (p.Pro536Ter)
c.1825_1835del (p.Pro609Ter)
 ClinVar dbSNP
10g.110812388C>ACA378370773RBM20c.1991C>A (p.Pro664His)
c.1607C>A (p.Pro536His)
c.1826C>A (p.Pro609His)
10g.110812388C>GCA378370774RBM20c.1991C>G (p.Pro664Arg)
c.1607C>G (p.Pro536Arg)
c.1826C>G (p.Pro609Arg)
 dbSNP gnomAD v4
10g.110812388C>TCA378370777RBM20c.1991C>T (p.Pro664Leu)
c.1607C>T (p.Pro536Leu)
c.1826C>T (p.Pro609Leu)
 gnomAD v4
10g.110812389C>ACA213223656RBM20c.1992C>A (p.Pro664=)
c.1608C>A (p.Pro536=)
c.1827C>A (p.Pro609=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812389C>GCA471368102RBM20c.1992C>G (p.Pro664=)
c.1608C>G (p.Pro536=)
c.1827C>G (p.Pro609=)
10g.110812389C>TCA133295RBM20c.1992C>T (p.Pro664=)
c.1608C>T (p.Pro536=)
c.1827C>T (p.Pro609=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812390T>ACA378370783RBM20c.1993T>A (p.Ser665Thr)
c.1609T>A (p.Ser537Thr)
c.1828T>A (p.Ser610Thr)
10g.110812390T>CCA378370785RBM20c.1993T>C (p.Ser665Pro)
c.1609T>C (p.Ser537Pro)
c.1828T>C (p.Ser610Pro)
10g.110812390T>GCA378370789RBM20c.1993T>G (p.Ser665Ala)
c.1609T>G (p.Ser537Ala)
c.1828T>G (p.Ser610Ala)
10g.110812391C>ACA378370797RBM20c.1994C>A (p.Ser665Tyr)
c.1610C>A (p.Ser537Tyr)
c.1829C>A (p.Ser610Tyr)
10g.110812391C>GCA5688658RBM20c.1994C>G (p.Ser665Cys)
c.1610C>G (p.Ser537Cys)
c.1829C>G (p.Ser610Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812391C>TCA378370792RBM20c.1994C>T (p.Ser665Phe)
c.1610C>T (p.Ser537Phe)
c.1829C>T (p.Ser610Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812392C>ACA471368103RBM20c.1995C>A (p.Ser665=)
c.1611C>A (p.Ser537=)
c.1830C>A (p.Ser610=)
10g.110812392C>GCA471368104RBM20c.1995C>G (p.Ser665=)
c.1611C>G (p.Ser537=)
c.1830C>G (p.Ser610=)
10g.110812392C>TCA471368105RBM20c.1995C>T (p.Ser665=)
c.1611C>T (p.Ser537=)
c.1830C>T (p.Ser610=)
 ClinVar dbSNP
10g.110812393C>ACA471368106RBM20c.1996C>A (p.Arg666=)
c.1612C>A (p.Arg538=)
c.1831C>A (p.Arg611=)
 gnomAD v4
10g.110812393C>GCA378370800RBM20c.1996C>G (p.Arg666Gly)
c.1612C>G (p.Arg538Gly)
c.1831C>G (p.Arg611Gly)
10g.110812393C>TCA5688659RBM20c.1996C>T (p.Arg666Trp)
c.1612C>T (p.Arg538Trp)
c.1831C>T (p.Arg611Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812394G>ACA213223665RBM20c.1997G>A (p.Arg666Gln)
c.1613G>A (p.Arg538Gln)
c.1832G>A (p.Arg611Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812394G>CCA378370811RBM20c.1997G>C (p.Arg666Pro)
c.1613G>C (p.Arg538Pro)
c.1832G>C (p.Arg611Pro)
10g.110812394G>TCA378370813RBM20c.1997G>T (p.Arg666Leu)
c.1613G>T (p.Arg538Leu)
c.1832G>T (p.Arg611Leu)
10g.110812395G>ACA471368107RBM20c.1998G>A (p.Arg666=)
c.1614G>A (p.Arg538=)
c.1833G>A (p.Arg611=)
 gnomAD v4
10g.110812395G>CCA471368108RBM20c.1998G>C (p.Arg666=)
c.1614G>C (p.Arg538=)
c.1833G>C (p.Arg611=)
10g.110812395G>TCA471368109RBM20c.1998G>T (p.Arg666=)
c.1614G>T (p.Arg538=)
c.1833G>T (p.Arg611=)
10g.110812396G>ACA378370819RBM20c.1999G>A (p.Ala667Thr)
c.1615G>A (p.Ala539Thr)
c.1834G>A (p.Ala612Thr)
 ClinVar
10g.110812396G>CCA5688660RBM20c.1999G>C (p.Ala667Pro)
c.1615G>C (p.Ala539Pro)
c.1834G>C (p.Ala612Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812396G>TCA378370823RBM20c.1999G>T (p.Ala667Ser)
c.1615G>T (p.Ala539Ser)
c.1834G>T (p.Ala612Ser)
 dbSNP gnomAD v4
10g.110812397C>ACA378370825RBM20c.2000C>A (p.Ala667Asp)
c.1616C>A (p.Ala539Asp)
c.1835C>A (p.Ala612Asp)
10g.110812397C>GCA378370828RBM20c.2000C>G (p.Ala667Gly)
c.1616C>G (p.Ala539Gly)
c.1835C>G (p.Ala612Gly)
10g.110812397C>TCA378370831RBM20c.2000C>T (p.Ala667Val)
c.1616C>T (p.Ala539Val)
c.1835C>T (p.Ala612Val)
10g.110812398T>ACA471368110RBM20c.2001T>A (p.Ala667=)
c.1617T>A (p.Ala539=)
c.1836T>A (p.Ala612=)
10g.110812398T>CCA471368111RBM20c.2001T>C (p.Ala667=)
c.1617T>C (p.Ala539=)
c.1836T>C (p.Ala612=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812398T>GCA471368112RBM20c.2001T>G (p.Ala667=)
c.1617T>G (p.Ala539=)
c.1836T>G (p.Ala612=)
10g.110812399G>ACA378370834RBM20c.2002G>A (p.Asp668Asn)
c.1618G>A (p.Asp540Asn)
c.1837G>A (p.Asp613Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812399G>CCA378370842RBM20c.2002G>C (p.Asp668His)
c.1618G>C (p.Asp540His)
c.1837G>C (p.Asp613His)
10g.110812399G>TCA378370844RBM20c.2002G>T (p.Asp668Tyr)
c.1618G>T (p.Asp540Tyr)
c.1837G>T (p.Asp613Tyr)
10g.110812400A>CCA378370849RBM20c.2003A>C (p.Asp668Ala)
c.1619A>C (p.Asp540Ala)
c.1838A>C (p.Asp613Ala)
10g.110812400A>GCA378370852RBM20c.2003A>G (p.Asp668Gly)
c.1619A>G (p.Asp540Gly)
c.1838A>G (p.Asp613Gly)
10g.110812400A>TCA378370847RBM20c.2003A>T (p.Asp668Val)
c.1619A>T (p.Asp540Val)
c.1838A>T (p.Asp613Val)
10g.110812401C>ACA5688661RBM20c.2004C>A (p.Asp668Glu)
c.1620C>A (p.Asp540Glu)
c.1839C>A (p.Asp613Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812401C>GCA378370853RBM20c.2004C>G (p.Asp668Glu)
c.1620C>G (p.Asp540Glu)
c.1839C>G (p.Asp613Glu)
10g.110812401C>TCA471368113RBM20c.2004C>T (p.Asp668=)
c.1620C>T (p.Asp540=)
c.1839C>T (p.Asp613=)
10g.110812402T>ACA378370854RBM20c.2005T>A (p.Trp669Arg)
c.1621T>A (p.Trp541Arg)
c.1840T>A (p.Trp614Arg)
10g.110812402T>CCA378370855RBM20c.2005T>C (p.Trp669Arg)
c.1621T>C (p.Trp541Arg)
c.1840T>C (p.Trp614Arg)
10g.110812402T>GCA378370859RBM20c.2005T>G (p.Trp669Gly)
c.1621T>G (p.Trp541Gly)
c.1840T>G (p.Trp614Gly)
10g.110812403G>ACA378370867RBM20c.2006G>A (p.Trp669Ter)
c.1622G>A (p.Trp541Ter)
c.1841G>A (p.Trp614Ter)
 COSMIC
10g.110812403G>CCA378370863RBM20c.2006G>C (p.Trp669Ser)
c.1622G>C (p.Trp541Ser)
c.1841G>C (p.Trp614Ser)
10g.110812403G>TCA378370861RBM20c.2006G>T (p.Trp669Leu)
c.1622G>T (p.Trp541Leu)
c.1841G>T (p.Trp614Leu)
10g.110812404G>ACA378370870RBM20c.2007G>A (p.Trp669Ter)
c.1623G>A (p.Trp541Ter)
c.1842G>A (p.Trp614Ter)
10g.110812404G>CCA378370871RBM20c.2007G>C (p.Trp669Cys)
c.1623G>C (p.Trp541Cys)
c.1842G>C (p.Trp614Cys)
 gnomAD v4
10g.110812404G>TCA378370873RBM20c.2007G>T (p.Trp669Cys)
c.1623G>T (p.Trp541Cys)
c.1842G>T (p.Trp614Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.110812405G>ACA378370876RBM20c.2008G>A (p.Gly670Ser)
c.1624G>A (p.Gly542Ser)
c.1843G>A (p.Gly615Ser)
10g.110812405G>CCA378370878RBM20c.2008G>C (p.Gly670Arg)
c.1624G>C (p.Gly542Arg)
c.1843G>C (p.Gly615Arg)
 gnomAD v4
10g.110812405G>TCA378370880RBM20c.2008G>T (p.Gly670Cys)
c.1624G>T (p.Gly542Cys)
c.1843G>T (p.Gly615Cys)
10g.110812406G>ACA378370882RBM20c.2009G>A (p.Gly670Asp)
c.1625G>A (p.Gly542Asp)
c.1844G>A (p.Gly615Asp)
 ClinVar dbSNP gnomAD v4
10g.110812406G>CCA378370886RBM20c.2009G>C (p.Gly670Ala)
c.1625G>C (p.Gly542Ala)
c.1844G>C (p.Gly615Ala)
10g.110812406G>TCA378370884RBM20c.2009G>T (p.Gly670Val)
c.1625G>T (p.Gly542Val)
c.1844G>T (p.Gly615Val)
 gnomAD v4
10g.110812407C>ACA471368114RBM20c.2010C>A (p.Gly670=)
c.1626C>A (p.Gly542=)
c.1845C>A (p.Gly615=)
10g.110812407C>GCA471368116RBM20c.2010C>G (p.Gly670=)
c.1626C>G (p.Gly542=)
c.1845C>G (p.Gly615=)
10g.110812407C>TCA471368115RBM20c.2010C>T (p.Gly670=)
c.1626C>T (p.Gly542=)
c.1845C>T (p.Gly615=)
10g.110812408A>CCA378370890RBM20c.2011A>C (p.Asn671His)
c.1627A>C (p.Asn543His)
c.1846A>C (p.Asn616His)
10g.110812408A>GCA378370894RBM20c.2011A>G (p.Asn671Asp)
c.1627A>G (p.Asn543Asp)
c.1846A>G (p.Asn616Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812408A>TCA378370896RBM20c.2011A>T (p.Asn671Tyr)
c.1627A>T (p.Asn543Tyr)
c.1846A>T (p.Asn616Tyr)
10g.110812409A>CCA378370900RBM20c.2012A>C (p.Asn671Thr)
c.1628A>C (p.Asn543Thr)
c.1847A>C (p.Asn616Thr)
10g.110812409A>GCA378370902RBM20c.2012A>G (p.Asn671Ser)
c.1628A>G (p.Asn543Ser)
c.1847A>G (p.Asn616Ser)
 gnomAD v4
10g.110812409A>TCA378370907RBM20c.2012A>T (p.Asn671Ile)
c.1628A>T (p.Asn543Ile)
c.1847A>T (p.Asn616Ile)
10g.110812410T>ACA378370908RBM20c.2013T>A (p.Asn671Lys)
c.1629T>A (p.Asn543Lys)
c.1848T>A (p.Asn616Lys)
10g.110812410T>CCA471368117RBM20c.2013T>C (p.Asn671=)
c.1629T>C (p.Asn543=)
c.1848T>C (p.Asn616=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812410T>GCA378370910RBM20c.2013T>G (p.Asn671Lys)
c.1629T>G (p.Asn543Lys)
c.1848T>G (p.Asn616Lys)
10g.110812411G>ACA335553RBM20c.2014G>A (p.Gly672Ser)
c.1630G>A (p.Gly544Ser)
c.1849G>A (p.Gly617Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812411G>CCA378370915RBM20c.2014G>C (p.Gly672Arg)
c.1630G>C (p.Gly544Arg)
c.1849G>C (p.Gly617Arg)
 gnomAD v4
10g.110812411G>TCA378370918RBM20c.2014G>T (p.Gly672Cys)
c.1630G>T (p.Gly544Cys)
c.1849G>T (p.Gly617Cys)
10g.110812412dupCA596112341RBM20c.2015dup (p.Arg673ProfsTer27)
c.1631dup (p.Arg545ProfsTer27)
c.1850dup (p.Arg618ProfsTer27)
 dbSNP gnomAD v2 gnomAD v4
10g.110812412G>ACA378370919RBM20c.2015G>A (p.Gly672Asp)
c.1631G>A (p.Gly544Asp)
c.1850G>A (p.Gly617Asp)
10g.110812412G>CCA378370921RBM20c.2015G>C (p.Gly672Ala)
c.1631G>C (p.Gly544Ala)
c.1850G>C (p.Gly617Ala)
10g.110812412G>TCA378370920RBM20c.2015G>T (p.Gly672Val)
c.1631G>T (p.Gly544Val)
c.1850G>T (p.Gly617Val)
10g.110812413C>ACA471368118RBM20c.2016C>A (p.Gly672=)
c.1632C>A (p.Gly544=)
c.1851C>A (p.Gly617=)
10g.110812413C>GCA471368119RBM20c.2016C>G (p.Gly672=)
c.1632C>G (p.Gly544=)
c.1851C>G (p.Gly617=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812413C>TCA213223684RBM20c.2016C>T (p.Gly672=)
c.1632C>T (p.Gly544=)
c.1851C>T (p.Gly617=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812414C>ACA471368120RBM20c.2017C>A (p.Arg673=)
c.1633C>A (p.Arg545=)
c.1852C>A (p.Arg618=)
 ClinVar
10g.110812414C>GCA378370928RBM20c.2017C>G (p.Arg673Gly)
c.1633C>G (p.Arg545Gly)
c.1852C>G (p.Arg618Gly)
10g.110812414C>TCA133298RBM20c.2017C>T (p.Arg673Trp)
c.1633C>T (p.Arg545Trp)
c.1852C>T (p.Arg618Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812415G>ACA5688662RBM20c.2018G>A (p.Arg673Gln)
c.1634G>A (p.Arg545Gln)
c.1853G>A (p.Arg618Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812415G>CCA378370942RBM20c.2018G>C (p.Arg673Pro)
c.1634G>C (p.Arg545Pro)
c.1853G>C (p.Arg618Pro)
10g.110812415G>TCA378370944RBM20c.2018G>T (p.Arg673Leu)
c.1634G>T (p.Arg545Leu)
c.1853G>T (p.Arg618Leu)
10g.110812416G>ACA471368121RBM20c.2019G>A (p.Arg673=)
c.1635G>A (p.Arg545=)
c.1854G>A (p.Arg618=)
10g.110812416G>CCA471368122RBM20c.2019G>C (p.Arg673=)
c.1635G>C (p.Arg545=)
c.1854G>C (p.Arg618=)
10g.110812416G>TCA471368123RBM20c.2019G>T (p.Arg673=)
c.1635G>T (p.Arg545=)
c.1854G>T (p.Arg618=)
 ClinVar dbSNP
10g.110812417G>ACA378370950RBM20c.2020G>A (p.Asp674Asn)
c.1636G>A (p.Asp546Asn)
c.1855G>A (p.Asp619Asn)
10g.110812417G>CCA378370946RBM20c.2020G>C (p.Asp674His)
c.1636G>C (p.Asp546His)
c.1855G>C (p.Asp619His)
10g.110812417G>TCA378370948RBM20c.2020G>T (p.Asp674Tyr)
c.1636G>T (p.Asp546Tyr)
c.1855G>T (p.Asp619Tyr)
 COSMIC
10g.110812418A>CCA378370954RBM20c.2021A>C (p.Asp674Ala)
c.1637A>C (p.Asp546Ala)
c.1856A>C (p.Asp619Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812418A>GCA378370960RBM20c.2021A>G (p.Asp674Gly)
c.1637A>G (p.Asp546Gly)
c.1856A>G (p.Asp619Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812418A>TCA378370963RBM20c.2021A>T (p.Asp674Val)
c.1637A>T (p.Asp546Val)
c.1856A>T (p.Asp619Val)
10g.110812419C>ACA378370966RBM20c.2022C>A (p.Asp674Glu)
c.1638C>A (p.Asp546Glu)
c.1857C>A (p.Asp619Glu)
10g.110812419C>GCA378370968RBM20c.2022C>G (p.Asp674Glu)
c.1638C>G (p.Asp546Glu)
c.1857C>G (p.Asp619Glu)
10g.110812419C>TCA471368124RBM20c.2022C>T (p.Asp674=)
c.1638C>T (p.Asp546=)
c.1857C>T (p.Asp619=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812420T>ACA378370978RBM20c.2023T>A (p.Ser675Thr)
c.1639T>A (p.Ser547Thr)
c.1858T>A (p.Ser620Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.110812420T>CCA378370971RBM20c.2023T>C (p.Ser675Pro)
c.1639T>C (p.Ser547Pro)
c.1858T>C (p.Ser620Pro)
10g.110812420T>GCA378370974RBM20c.2023T>G (p.Ser675Ala)
c.1639T>G (p.Ser547Ala)
c.1858T>G (p.Ser620Ala)
10g.110812421C>ACA378370983RBM20c.2024C>A (p.Ser675Tyr)
c.1640C>A (p.Ser547Tyr)
c.1859C>A (p.Ser620Tyr)
10g.110812421C>GCA378370984RBM20c.2024C>G (p.Ser675Cys)
c.1640C>G (p.Ser547Cys)
c.1859C>G (p.Ser620Cys)
10g.110812421C>TCA378370986RBM20c.2024C>T (p.Ser675Phe)
c.1640C>T (p.Ser547Phe)
c.1859C>T (p.Ser620Phe)
 ClinVar dbSNP
10g.110812422C>ACA471368125RBM20c.2025C>A (p.Ser675=)
c.1641C>A (p.Ser547=)
c.1860C>A (p.Ser620=)
10g.110812422C>GCA471368126RBM20c.2025C>G (p.Ser675=)
c.1641C>G (p.Ser547=)
c.1860C>G (p.Ser620=)
10g.110812422C>TCA471368127RBM20c.2025C>T (p.Ser675=)
c.1641C>T (p.Ser547=)
c.1860C>T (p.Ser620=)
10g.110812423delCA596112342RBM20c.2026del (p.Trp676GlyfsTer?)
c.1642del (p.Trp548GlyfsTer?)
c.1861del (p.Trp621GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
10g.110812423T>ACA378370988RBM20c.2026T>A (p.Trp676Arg)
c.1642T>A (p.Trp548Arg)
c.1861T>A (p.Trp621Arg)
10g.110812423T>CCA378370990RBM20c.2026T>C (p.Trp676Arg)
c.1642T>C (p.Trp548Arg)
c.1861T>C (p.Trp621Arg)
10g.110812423T>GCA378370993RBM20c.2026T>G (p.Trp676Gly)
c.1642T>G (p.Trp548Gly)
c.1861T>G (p.Trp621Gly)
10g.110812424G>ACA378370996RBM20c.2027G>A (p.Trp676Ter)
c.1643G>A (p.Trp548Ter)
c.1862G>A (p.Trp621Ter)
10g.110812424G>CCA378370999RBM20c.2027G>C (p.Trp676Ser)
c.1643G>C (p.Trp548Ser)
c.1862G>C (p.Trp621Ser)
10g.110812424G>TCA378371002RBM20c.2027G>T (p.Trp676Leu)
c.1643G>T (p.Trp548Leu)
c.1862G>T (p.Trp621Leu)
10g.110812425G>ACA378371004RBM20c.2028G>A (p.Trp676Ter)
c.1644G>A (p.Trp548Ter)
c.1863G>A (p.Trp621Ter)
10g.110812425G>CCA378371008RBM20c.2028G>C (p.Trp676Cys)
c.1644G>C (p.Trp548Cys)
c.1863G>C (p.Trp621Cys)
10g.110812425G>TCA378371012RBM20c.2028G>T (p.Trp676Cys)
c.1644G>T (p.Trp548Cys)
c.1863G>T (p.Trp621Cys)
10g.110812426G>ACA378371014RBM20c.2029G>A (p.Glu677Lys)
c.1645G>A (p.Glu549Lys)
c.1864G>A (p.Glu622Lys)
10g.110812426G>CCA378371023RBM20c.2029G>C (p.Glu677Gln)
c.1645G>C (p.Glu549Gln)
c.1864G>C (p.Glu622Gln)
10g.110812426G>TCA378371016RBM20c.2029G>T (p.Glu677Ter)
c.1645G>T (p.Glu549Ter)
c.1864G>T (p.Glu622Ter)
10g.110812427A>CCA378371025RBM20c.2030A>C (p.Glu677Ala)
c.1646A>C (p.Glu549Ala)
c.1865A>C (p.Glu622Ala)
 gnomAD v4
10g.110812427A>GCA378371026RBM20c.2030A>G (p.Glu677Gly)
c.1646A>G (p.Glu549Gly)
c.1865A>G (p.Glu622Gly)
 dbSNP gnomAD v4
10g.110812427A>TCA378371029RBM20c.2030A>T (p.Glu677Val)
c.1646A>T (p.Glu549Val)
c.1865A>T (p.Glu622Val)
10g.110812428G>ACA471368128RBM20c.2031G>A (p.Glu677=)
c.1647G>A (p.Glu549=)
c.1866G>A (p.Glu622=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812428G>CCA378371034RBM20c.2031G>C (p.Glu677Asp)
c.1647G>C (p.Glu549Asp)
c.1866G>C (p.Glu622Asp)
10g.110812428G>TCA378371037RBM20c.2031G>T (p.Glu677Asp)
c.1647G>T (p.Glu549Asp)
c.1866G>T (p.Glu622Asp)
 ClinVar
10g.110812429C>ACA378371040RBM20c.2032C>A (p.His678Asn)
c.1648C>A (p.His550Asn)
c.1867C>A (p.His623Asn)
10g.110812429C>GCA378371041RBM20c.2032C>G (p.His678Asp)
c.1648C>G (p.His550Asp)
c.1867C>G (p.His623Asp)
10g.110812429C>TCA378371042RBM20c.2032C>T (p.His678Tyr)
c.1648C>T (p.His550Tyr)
c.1867C>T (p.His623Tyr)
 gnomAD v4
10g.110812430A>CCA378371044RBM20c.2033A>C (p.His678Pro)
c.1649A>C (p.His550Pro)
c.1868A>C (p.His623Pro)
10g.110812430A>GCA378371045RBM20c.2033A>G (p.His678Arg)
c.1649A>G (p.His550Arg)
c.1868A>G (p.His623Arg)
10g.110812430A>TCA378371046RBM20c.2033A>T (p.His678Leu)
c.1649A>T (p.His550Leu)
c.1868A>T (p.His623Leu)
10g.110812430dupCA2573053236RBM20c.2033dup (p.His678GlnfsTer22)
c.1649dup (p.His550GlnfsTer22)
c.1868dup (p.His623GlnfsTer22)
 ClinVar dbSNP
10g.110812431C>ACA378371047RBM20c.2034C>A (p.His678Gln)
c.1650C>A (p.His550Gln)
c.1869C>A (p.His623Gln)
 dbSNP
10g.110812431C>GCA378371048RBM20c.2034C>G (p.His678Gln)
c.1650C>G (p.His550Gln)
c.1869C>G (p.His623Gln)
 dbSNP
10g.110812431C>TCA471368129RBM20c.2034C>T (p.His678=)
c.1650C>T (p.His550=)
c.1869C>T (p.His623=)
10g.110812432T>ACA378371050RBM20c.2035T>A (p.Ser679Thr)
c.1651T>A (p.Ser551Thr)
c.1870T>A (p.Ser624Thr)
10g.110812432T>CCA378371053RBM20c.2035T>C (p.Ser679Pro)
c.1651T>C (p.Ser551Pro)
c.1870T>C (p.Ser624Pro)
10g.110812432T>GCA378371052RBM20c.2035T>G (p.Ser679Ala)
c.1651T>G (p.Ser551Ala)
c.1870T>G (p.Ser624Ala)
10g.110812433C>ACA378371056RBM20c.2036C>A (p.Ser679Tyr)
c.1652C>A (p.Ser551Tyr)
c.1871C>A (p.Ser624Tyr)
10g.110812433C>GCA378371061RBM20c.2036C>G (p.Ser679Cys)
c.1652C>G (p.Ser551Cys)
c.1871C>G (p.Ser624Cys)
10g.110812433C>TCA378371063RBM20c.2036C>T (p.Ser679Phe)
c.1652C>T (p.Ser551Phe)
c.1871C>T (p.Ser624Phe)
 dbSNP gnomAD v3 gnomAD v4
10g.110812434T>ACA471368131RBM20c.2037T>A (p.Ser679=)
c.1653T>A (p.Ser551=)
c.1872T>A (p.Ser624=)
10g.110812434T>CCA471368133RBM20c.2037T>C (p.Ser679=)
c.1653T>C (p.Ser551=)
c.1872T>C (p.Ser624=)
10g.110812434T>GCA471368132RBM20c.2037T>G (p.Ser679=)
c.1653T>G (p.Ser551=)
c.1872T>G (p.Ser624=)
10g.110812435C>ACA378371066RBM20c.2038C>A (p.Pro680Thr)
c.1654C>A (p.Pro552Thr)
c.1873C>A (p.Pro625Thr)
10g.110812435C>GCA378371068RBM20c.2038C>G (p.Pro680Ala)
c.1654C>G (p.Pro552Ala)
c.1873C>G (p.Pro625Ala)
10g.110812435C>TCA378371071RBM20c.2038C>T (p.Pro680Ser)
c.1654C>T (p.Pro552Ser)
c.1873C>T (p.Pro625Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812436C>ACA378371073RBM20c.2039C>A (p.Pro680His)
c.1655C>A (p.Pro552His)
c.1874C>A (p.Pro625His)
10g.110812436C>GCA378371076RBM20c.2039C>G (p.Pro680Arg)
c.1655C>G (p.Pro552Arg)
c.1874C>G (p.Pro625Arg)
10g.110812436C>TCA378371079RBM20c.2039C>T (p.Pro680Leu)
c.1655C>T (p.Pro552Leu)
c.1874C>T (p.Pro625Leu)
10g.110812437C>ACA471368134RBM20c.2040C>A (p.Pro680=)
c.1656C>A (p.Pro552=)
c.1875C>A (p.Pro625=)
10g.110812437C>GCA471368135RBM20c.2040C>G (p.Pro680=)
c.1656C>G (p.Pro552=)
c.1875C>G (p.Pro625=)
10g.110812437C>TCA213223715RBM20c.2040C>T (p.Pro680=)
c.1656C>T (p.Pro552=)
c.1875C>T (p.Pro625=)
 dbSNP
10g.110812438T>ACA378371091RBM20c.2041T>A (p.Tyr681Asn)
c.1657T>A (p.Tyr553Asn)
c.1876T>A (p.Tyr626Asn)
10g.110812438T>CCA378371090RBM20c.2041T>C (p.Tyr681His)
c.1657T>C (p.Tyr553His)
c.1876T>C (p.Tyr626His)
 ClinVar dbSNP gnomAD v4
10g.110812438T>GCA378371088RBM20c.2041T>G (p.Tyr681Asp)
c.1657T>G (p.Tyr553Asp)
c.1876T>G (p.Tyr626Asp)
10g.110812439delCA2739276021RBM20c.2042del (p.Tyr681LeufsTer?)
c.1658del (p.Tyr553LeufsTer?)
c.1877del (p.Tyr626LeufsTer?)
 ClinVar
10g.110812439A>CCA378371093RBM20c.2042A>C (p.Tyr681Ser)
c.1658A>C (p.Tyr553Ser)
c.1877A>C (p.Tyr626Ser)
10g.110812439A>GCA5688663RBM20c.2042A>G (p.Tyr681Cys)
c.1658A>G (p.Tyr553Cys)
c.1877A>G (p.Tyr626Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812439A>TCA378371096RBM20c.2042A>T (p.Tyr681Phe)
c.1658A>T (p.Tyr553Phe)
c.1877A>T (p.Tyr626Phe)
10g.110812440T>ACA378371110RBM20c.2043T>A (p.Tyr681Ter)
c.1659T>A (p.Tyr553Ter)
c.1878T>A (p.Tyr626Ter)
 ClinVar dbSNP
10g.110812440T>CCA5688664RBM20c.2043T>C (p.Tyr681=)
c.1659T>C (p.Tyr553=)
c.1878T>C (p.Tyr626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812440T>GCA378371112RBM20c.2043T>G (p.Tyr681Ter)
c.1659T>G (p.Tyr553Ter)
c.1878T>G (p.Tyr626Ter)
10g.110812441G>ACA378371113RBM20c.2044G>A (p.Ala682Thr)
c.1660G>A (p.Ala554Thr)
c.1879G>A (p.Ala627Thr)
 gnomAD v4
10g.110812441G>CCA378371114RBM20c.2044G>C (p.Ala682Pro)
c.1660G>C (p.Ala554Pro)
c.1879G>C (p.Ala627Pro)
 dbSNP
10g.110812441G>TCA378371116RBM20c.2044G>T (p.Ala682Ser)
c.1660G>T (p.Ala554Ser)
c.1879G>T (p.Ala627Ser)
10g.110812442C>ACA378371119RBM20c.2045C>A (p.Ala682Asp)
c.1661C>A (p.Ala554Asp)
c.1880C>A (p.Ala627Asp)
10g.110812442C>GCA378371121RBM20c.2045C>G (p.Ala682Gly)
c.1661C>G (p.Ala554Gly)
c.1880C>G (p.Ala627Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812442C>TCA378371127RBM20c.2045C>T (p.Ala682Val)
c.1661C>T (p.Ala554Val)
c.1880C>T (p.Ala627Val)
 dbSNP gnomAD v3 gnomAD v4
10g.110812443C>ACA471506815RBM20c.2046C>A (p.Ala682=)
c.1662C>A (p.Ala554=)
c.1881C>A (p.Ala627=)
10g.110812443C>GCA471506817RBM20c.2046C>G (p.Ala682=)
c.1662C>G (p.Ala554=)
c.1881C>G (p.Ala627=)
 gnomAD v4
10g.110812443C>TCA213223726RBM20c.2046C>T (p.Ala682=)
c.1662C>T (p.Ala554=)
c.1881C>T (p.Ala627=)
 ClinVar dbSNP gnomAD v4
10g.110812444A>CCA471506818RBM20c.2047A>C (p.Arg683=)
c.1663A>C (p.Arg555=)
c.1882A>C (p.Arg628=)
10g.110812444A>GCA378371132RBM20c.2047A>G (p.Arg683Gly)
c.1663A>G (p.Arg555Gly)
c.1882A>G (p.Arg628Gly)
 ClinVar dbSNP gnomAD v4
10g.110812444A>TCA378371139RBM20c.2047A>T (p.Arg683Trp)
c.1663A>T (p.Arg555Trp)
c.1882A>T (p.Arg628Trp)
10g.110812445G>ACA378371142RBM20c.2048G>A (p.Arg683Lys)
c.1664G>A (p.Arg555Lys)
c.1883G>A (p.Arg628Lys)
 gnomAD v4
10g.110812445G>CCA378371150RBM20c.2048G>C (p.Arg683Thr)
c.1664G>C (p.Arg555Thr)
c.1883G>C (p.Arg628Thr)
10g.110812445G>TCA378371152RBM20c.2048G>T (p.Arg683Met)
c.1664G>T (p.Arg555Met)
c.1883G>T (p.Arg628Met)
10g.110812450_110812453delCA2697558788RBM20c.2053_2056del (p.Glu685LysfsTer?)
c.1669_1672del (p.Glu557LysfsTer?)
c.1888_1891del (p.Glu630LysfsTer?)
 ClinVar
10g.110812446G>ACA471506821RBM20c.2049G>A (p.Arg683=)
c.1665G>A (p.Arg555=)
c.1884G>A (p.Arg628=)
10g.110812446G>CCA378371156RBM20c.2049G>C (p.Arg683Ser)
c.1665G>C (p.Arg555Ser)
c.1884G>C (p.Arg628Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.110812446G>TCA378371158RBM20c.2049G>T (p.Arg683Ser)
c.1665G>T (p.Arg555Ser)
c.1884G>T (p.Arg628Ser)
10g.110812447A>CCA471506823RBM20c.2050A>C (p.Arg684=)
c.1666A>C (p.Arg556=)
c.1885A>C (p.Arg629=)
10g.110812447A>GCA378371159RBM20c.2050A>G (p.Arg684Gly)
c.1666A>G (p.Arg556Gly)
c.1885A>G (p.Arg629Gly)
10g.110812447A>TCA378371162RBM20c.2050A>T (p.Arg684Trp)
c.1666A>T (p.Arg556Trp)
c.1885A>T (p.Arg629Trp)
10g.110812448G>ACA213223735RBM20c.2051G>A (p.Arg684Lys)
c.1667G>A (p.Arg556Lys)
c.1886G>A (p.Arg629Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812448G>CCA378371163RBM20c.2051G>C (p.Arg684Thr)
c.1667G>C (p.Arg556Thr)
c.1886G>C (p.Arg629Thr)
10g.110812448G>TCA378371165RBM20c.2051G>T (p.Arg684Met)
c.1667G>T (p.Arg556Met)
c.1886G>T (p.Arg629Met)
 ClinVar
10g.110812449G>ACA471506828RBM20c.2052G>A (p.Arg684=)
c.1668G>A (p.Arg556=)
c.1887G>A (p.Arg629=)
10g.110812449G>CCA378371166RBM20c.2052G>C (p.Arg684Ser)
c.1668G>C (p.Arg556Ser)
c.1887G>C (p.Arg629Ser)
 COSMIC
10g.110812449G>TCA378371168RBM20c.2052G>T (p.Arg684Ser)
c.1668G>T (p.Arg556Ser)
c.1887G>T (p.Arg629Ser)
10g.110812450G>ACA378371171RBM20c.2053G>A (p.Glu685Lys)
c.1669G>A (p.Glu557Lys)
c.1888G>A (p.Glu630Lys)
10g.110812450G>CCA378371178RBM20c.2053G>C (p.Glu685Gln)
c.1669G>C (p.Glu557Gln)
c.1888G>C (p.Glu630Gln)
10g.110812450G>TCA378371187RBM20c.2053G>T (p.Glu685Ter)
c.1669G>T (p.Glu557Ter)
c.1888G>T (p.Glu630Ter)
10g.110812451A>CCA378371189RBM20c.2054A>C (p.Glu685Ala)
c.1670A>C (p.Glu557Ala)
c.1889A>C (p.Glu630Ala)
 gnomAD v4
10g.110812451A>GCA378371190RBM20c.2054A>G (p.Glu685Gly)
c.1670A>G (p.Glu557Gly)
c.1889A>G (p.Glu630Gly)
10g.110812451A>TCA378371188RBM20c.2054A>T (p.Glu685Val)
c.1670A>T (p.Glu557Val)
c.1889A>T (p.Glu630Val)
10g.110812452G>ACA471506829RBM20c.2055G>A (p.Glu685=)
c.1671G>A (p.Glu557=)
c.1890G>A (p.Glu630=)
 gnomAD v4
10g.110812452G>CCA378371195RBM20c.2055G>C (p.Glu685Asp)
c.1671G>C (p.Glu557Asp)
c.1890G>C (p.Glu630Asp)
10g.110812452G>TCA378371198RBM20c.2055G>T (p.Glu685Asp)
c.1671G>T (p.Glu557Asp)
c.1890G>T (p.Glu630Asp)
10g.110812453G>ACA378371199RBM20c.2056G>A (p.Glu686Lys)
c.1672G>A (p.Glu558Lys)
c.1891G>A (p.Glu631Lys)
 gnomAD v4
10g.110812453G>CCA378371201RBM20c.2056G>C (p.Glu686Gln)
c.1672G>C (p.Glu558Gln)
c.1891G>C (p.Glu631Gln)
10g.110812453G>TCA378371204RBM20c.2056G>T (p.Glu686Ter)
c.1672G>T (p.Glu558Ter)
c.1891G>T (p.Glu631Ter)
10g.110812454A>CCA378371205RBM20c.2057A>C (p.Glu686Ala)
c.1673A>C (p.Glu558Ala)
c.1892A>C (p.Glu631Ala)
10g.110812454A>GCA378371206RBM20c.2057A>G (p.Glu686Gly)
c.1673A>G (p.Glu558Gly)
c.1892A>G (p.Glu631Gly)
10g.110812454A>TCA378371207RBM20c.2057A>T (p.Glu686Val)
c.1673A>T (p.Glu558Val)
c.1892A>T (p.Glu631Val)
10g.110812455A>CCA378371208RBM20c.2058A>C (p.Glu686Asp)
c.1674A>C (p.Glu558Asp)
c.1893A>C (p.Glu631Asp)
10g.110812455A>GCA471506835RBM20c.2058A>G (p.Glu686=)
c.1674A>G (p.Glu558=)
c.1893A>G (p.Glu631=)
 dbSNP gnomAD v4
10g.110812455A>TCA378371209RBM20c.2058A>T (p.Glu686Asp)
c.1674A>T (p.Glu558Asp)
c.1893A>T (p.Glu631Asp)
10g.110812456G>ACA378371216RBM20c.2059G>A (p.Glu687Lys)
c.1675G>A (p.Glu559Lys)
c.1894G>A (p.Glu632Lys)
10g.110812456G>CCA378371219RBM20c.2059G>C (p.Glu687Gln)
c.1675G>C (p.Glu559Gln)
c.1894G>C (p.Glu632Gln)
10g.110812456G>TCA378371225RBM20c.2059G>T (p.Glu687Ter)
c.1675G>T (p.Glu559Ter)
c.1894G>T (p.Glu632Ter)
10g.110812457delCA2697558789RBM20c.2060del (p.Glu687GlyfsTer?)
c.1676del (p.Glu559GlyfsTer?)
c.1895del (p.Glu632GlyfsTer?)
 ClinVar
10g.110812457A>CCA378371233RBM20c.2060A>C (p.Glu687Ala)
c.1676A>C (p.Glu559Ala)
c.1895A>C (p.Glu632Ala)
10g.110812457A>GCA213223742RBM20c.2060A>G (p.Glu687Gly)
c.1676A>G (p.Glu559Gly)
c.1895A>G (p.Glu632Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812457A>TCA378371227RBM20c.2060A>T (p.Glu687Val)
c.1676A>T (p.Glu559Val)
c.1895A>T (p.Glu632Val)
10g.110812458G>ACA471506839RBM20c.2061G>A (p.Glu687=)
c.1677G>A (p.Glu559=)
c.1896G>A (p.Glu632=)
 ClinVar dbSNP
10g.110812458G>CCA378371234RBM20c.2061G>C (p.Glu687Asp)
c.1677G>C (p.Glu559Asp)
c.1896G>C (p.Glu632Asp)
10g.110812458G>TCA378371237RBM20c.2061G>T (p.Glu687Asp)
c.1677G>T (p.Glu559Asp)
c.1896G>T (p.Glu632Asp)
10g.110812459C>ACA471506842RBM20c.2062C>A (p.Arg688=)
c.1678C>A (p.Arg560=)
c.1897C>A (p.Arg633=)
10g.110812459C>GCA378371240RBM20c.2062C>G (p.Arg688Gly)
c.1678C>G (p.Arg560Gly)
c.1897C>G (p.Arg633Gly)
10g.110812459C>TCA335555RBM20c.2062C>T (p.Arg688Ter)
c.1678C>T (p.Arg560Ter)
c.1897C>T (p.Arg633Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812460G>ACA5688665RBM20c.2063G>A (p.Arg688Gln)
c.1679G>A (p.Arg560Gln)
c.1898G>A (p.Arg633Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812460G>CCA378371250RBM20c.2063G>C (p.Arg688Pro)
c.1679G>C (p.Arg560Pro)
c.1898G>C (p.Arg633Pro)
10g.110812460G>TCA378371251RBM20c.2063G>T (p.Arg688Leu)
c.1679G>T (p.Arg560Leu)
c.1898G>T (p.Arg633Leu)
10g.110812461A>CCA471506844RBM20c.2064A>C (p.Arg688=)
c.1680A>C (p.Arg560=)
c.1899A>C (p.Arg633=)
10g.110812461A>GCA471506846RBM20c.2064A>G (p.Arg688=)
c.1680A>G (p.Arg560=)
c.1899A>G (p.Arg633=)
10g.110812461A>TCA471506850RBM20c.2064A>T (p.Arg688=)
c.1680A>T (p.Arg560=)
c.1899A>T (p.Arg633=)
10g.110812462G>ACA378371252RBM20c.2065G>A (p.Asp689Asn)
c.1681G>A (p.Asp561Asn)
c.1900G>A (p.Asp634Asn)
 ClinVar dbSNP
10g.110812462G>CCA378371253RBM20c.2065G>C (p.Asp689His)
c.1681G>C (p.Asp561His)
c.1900G>C (p.Asp634His)
10g.110812462G>TCA378371256RBM20c.2065G>T (p.Asp689Tyr)
c.1681G>T (p.Asp561Tyr)
c.1900G>T (p.Asp634Tyr)
10g.110812463A>CCA378371265RBM20c.2066A>C (p.Asp689Ala)
c.1682A>C (p.Asp561Ala)
c.1901A>C (p.Asp634Ala)
10g.110812463A>GCA378371268RBM20c.2066A>G (p.Asp689Gly)
c.1682A>G (p.Asp561Gly)
c.1901A>G (p.Asp634Gly)
10g.110812463A>TCA378371274RBM20c.2066A>T (p.Asp689Val)
c.1682A>T (p.Asp561Val)
c.1901A>T (p.Asp634Val)
 gnomAD v4
10g.110812464C>ACA378371276RBM20c.2067C>A (p.Asp689Glu)
c.1683C>A (p.Asp561Glu)
c.1902C>A (p.Asp634Glu)
 ClinVar
10g.110812464C>GCA378371279RBM20c.2067C>G (p.Asp689Glu)
c.1683C>G (p.Asp561Glu)
c.1902C>G (p.Asp634Glu)
10g.110812464C>TCA471506857RBM20c.2067C>T (p.Asp689=)
c.1683C>T (p.Asp561=)
c.1902C>T (p.Asp634=)
 gnomAD v4
10g.110812465C>ACA378371289RBM20c.2068C>A (p.Pro690Thr)
c.1684C>A (p.Pro562Thr)
c.1903C>A (p.Pro635Thr)
 gnomAD v4
10g.110812465C>GCA378371296RBM20c.2068C>G (p.Pro690Ala)
c.1684C>G (p.Pro562Ala)
c.1903C>G (p.Pro635Ala)
10g.110812465C>TCA378371293RBM20c.2068C>T (p.Pro690Ser)
c.1684C>T (p.Pro562Ser)
c.1903C>T (p.Pro635Ser)
 dbSNP gnomAD v4
10g.110812466C>ACA378371298RBM20c.2069C>A (p.Pro690Gln)
c.1685C>A (p.Pro562Gln)
c.1904C>A (p.Pro635Gln)
10g.110812466C>GCA5688666RBM20c.2069C>G (p.Pro690Arg)
c.1685C>G (p.Pro562Arg)
c.1904C>G (p.Pro635Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812466C>TCA16605974RBM20c.2069C>T (p.Pro690Leu)
c.1685C>T (p.Pro562Leu)
c.1904C>T (p.Pro635Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812467G>ACA213223759RBM20c.2070G>A (p.Pro690=)
c.1686G>A (p.Pro562=)
c.1905G>A (p.Pro635=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812467G>CCA471506867RBM20c.2070G>C (p.Pro690=)
c.1686G>C (p.Pro562=)
c.1905G>C (p.Pro635=)
10g.110812467G>TCA471506868RBM20c.2070G>T (p.Pro690=)
c.1686G>T (p.Pro562=)
c.1905G>T (p.Pro635=)
 gnomAD v4
10g.110812468G>ACA378371302RBM20c.2071G>A (p.Ala691Thr)
c.1687G>A (p.Ala563Thr)
c.1906G>A (p.Ala636Thr)
 ClinVar gnomAD v4
10g.110812468G>CCA378371305RBM20c.2071G>C (p.Ala691Pro)
c.1687G>C (p.Ala563Pro)
c.1906G>C (p.Ala636Pro)
10g.110812468G>TCA378371310RBM20c.2071G>T (p.Ala691Ser)
c.1687G>T (p.Ala563Ser)
c.1906G>T (p.Ala636Ser)
 ClinVar dbSNP
10g.110812469C>ACA378371318RBM20c.2072C>A (p.Ala691Asp)
c.1688C>A (p.Ala563Asp)
c.1907C>A (p.Ala636Asp)
10g.110812469C>GCA378371325RBM20c.2072C>G (p.Ala691Gly)
c.1688C>G (p.Ala563Gly)
c.1907C>G (p.Ala636Gly)
10g.110812469C>TCA378371329RBM20c.2072C>T (p.Ala691Val)
c.1688C>T (p.Ala563Val)
c.1907C>T (p.Ala636Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812470T>ACA471506876RBM20c.2073T>A (p.Ala691=)
c.1689T>A (p.Ala563=)
c.1908T>A (p.Ala636=)
10g.110812470T>CCA471506875RBM20c.2073T>C (p.Ala691=)
c.1689T>C (p.Ala563=)
c.1908T>C (p.Ala636=)
10g.110812470T>GCA471506873RBM20c.2073T>G (p.Ala691=)
c.1689T>G (p.Ala563=)
c.1908T>G (p.Ala636=)
10g.110812471C>ACA378371338RBM20c.2074C>A (p.Pro692Thr)
c.1690C>A (p.Pro564Thr)
c.1909C>A (p.Pro637Thr)
10g.110812471C>GCA378371349RBM20c.2074C>G (p.Pro692Ala)
c.1690C>G (p.Pro564Ala)
c.1909C>G (p.Pro637Ala)
10g.110812471C>TCA378371355RBM20c.2074C>T (p.Pro692Ser)
c.1690C>T (p.Pro564Ser)
c.1909C>T (p.Pro637Ser)
10g.110812471_110812472delinsTTCA645568267RBM20c.2074_2075delinsTT (p.Pro692Phe)
c.1690_1691delinsTT (p.Pro564Phe)
c.1909_1910delinsTT (p.Pro637Phe)
 COSMIC
10g.110812472C>ACA378371380RBM20c.2075C>A (p.Pro692His)
c.1691C>A (p.Pro564His)
c.1910C>A (p.Pro637His)
10g.110812472C>GCA378371363RBM20c.2075C>G (p.Pro692Arg)
c.1691C>G (p.Pro564Arg)
c.1910C>G (p.Pro637Arg)
10g.110812472C>TCA378371365RBM20c.2075C>T (p.Pro692Leu)
c.1691C>T (p.Pro564Leu)
c.1910C>T (p.Pro637Leu)
 ClinVar
10g.110812473C>ACA471506880RBM20c.2076C>A (p.Pro692=)
c.1692C>A (p.Pro564=)
c.1911C>A (p.Pro637=)
10g.110812473C>GCA471506883RBM20c.2076C>G (p.Pro692=)
c.1692C>G (p.Pro564=)
c.1911C>G (p.Pro637=)
10g.110812473C>TCA213223762RBM20c.2076C>T (p.Pro692=)
c.1692C>T (p.Pro564=)
c.1911C>T (p.Pro637=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812474T>ACA378371382RBM20c.2077T>A (p.Trp693Arg)
c.1693T>A (p.Trp565Arg)
c.1912T>A (p.Trp638Arg)
10g.110812474T>CCA378371383RBM20c.2077T>C (p.Trp693Arg)
c.1693T>C (p.Trp565Arg)
c.1912T>C (p.Trp638Arg)
10g.110812474T>GCA378371387RBM20c.2077T>G (p.Trp693Gly)
c.1693T>G (p.Trp565Gly)
c.1912T>G (p.Trp638Gly)
10g.110812475G>ACA378371390RBM20c.2078G>A (p.Trp693Ter)
c.1694G>A (p.Trp565Ter)
c.1913G>A (p.Trp638Ter)
10g.110812475G>CCA378371393RBM20c.2078G>C (p.Trp693Ser)
c.1694G>C (p.Trp565Ser)
c.1913G>C (p.Trp638Ser)
10g.110812475G>TCA378371404RBM20c.2078G>T (p.Trp693Leu)
c.1694G>T (p.Trp565Leu)
c.1913G>T (p.Trp638Leu)
10g.110812476G>ACA378371412RBM20c.2079G>A (p.Trp693Ter)
c.1695G>A (p.Trp565Ter)
c.1914G>A (p.Trp638Ter)
10g.110812476G>CCA378371418RBM20c.2079G>C (p.Trp693Cys)
c.1695G>C (p.Trp565Cys)
c.1914G>C (p.Trp638Cys)
10g.110812476G>TCA378371426RBM20c.2079G>T (p.Trp693Cys)
c.1695G>T (p.Trp565Cys)
c.1914G>T (p.Trp638Cys)
 gnomAD v4
10g.110812477A>CCA471506891RBM20c.2080A>C (p.Arg694=)
c.1696A>C (p.Arg566=)
c.1915A>C (p.Arg639=)
10g.110812477A>GCA378371431RBM20c.2080A>G (p.Arg694Gly)
c.1696A>G (p.Arg566Gly)
c.1915A>G (p.Arg639Gly)
10g.110812477A>TCA378371436RBM20c.2080A>T (p.Arg694Trp)
c.1696A>T (p.Arg566Trp)
c.1915A>T (p.Arg639Trp)
10g.110812478G>ACA378371449RBM20c.2081G>A (p.Arg694Lys)
c.1697G>A (p.Arg566Lys)
c.1916G>A (p.Arg639Lys)
10g.110812478G>CCA378371448RBM20c.2081G>C (p.Arg694Thr)
c.1697G>C (p.Arg566Thr)
c.1916G>C (p.Arg639Thr)
10g.110812478G>TCA378371439RBM20c.2081G>T (p.Arg694Met)
c.1697G>T (p.Arg566Met)
c.1916G>T (p.Arg639Met)
10g.110812479G>ACA471506895RBM20c.2082G>A (p.Arg694=)
c.1698G>A (p.Arg566=)
c.1917G>A (p.Arg639=)
10g.110812479G>CCA378371452RBM20c.2082G>C (p.Arg694Ser)
c.1698G>C (p.Arg566Ser)
c.1917G>C (p.Arg639Ser)
10g.110812479G>TCA378371457RBM20c.2082G>T (p.Arg694Ser)
c.1698G>T (p.Arg566Ser)
c.1917G>T (p.Arg639Ser)
10g.110812480G>ACA378371461RBM20c.2083G>A (p.Asp695Asn)
c.1699G>A (p.Asp567Asn)
c.1918G>A (p.Asp640Asn)
 gnomAD v4 COSMIC
10g.110812480G>CCA378371469RBM20c.2083G>C (p.Asp695His)
c.1699G>C (p.Asp567His)
c.1918G>C (p.Asp640His)
10g.110812480G>TCA378371472RBM20c.2083G>T (p.Asp695Tyr)
c.1699G>T (p.Asp567Tyr)
c.1918G>T (p.Asp640Tyr)
10g.110812481A>CCA378371475RBM20c.2084A>C (p.Asp695Ala)
c.1700A>C (p.Asp567Ala)
c.1919A>C (p.Asp640Ala)
10g.110812481A>GCA213223767RBM20c.2084A>G (p.Asp695Gly)
c.1700A>G (p.Asp567Gly)
c.1919A>G (p.Asp640Gly)
 ClinVar dbSNP gnomAD v4
10g.110812481A>TCA378371493RBM20c.2084A>T (p.Asp695Val)
c.1700A>T (p.Asp567Val)
c.1919A>T (p.Asp640Val)
10g.110812482C>ACA378371497RBM20c.2085C>A (p.Asp695Glu)
c.1701C>A (p.Asp567Glu)
c.1920C>A (p.Asp640Glu)
10g.110812482C>GCA378371500RBM20c.2085C>G (p.Asp695Glu)
c.1701C>G (p.Asp567Glu)
c.1920C>G (p.Asp640Glu)
 dbSNP
10g.110812482C>TCA471506905RBM20c.2085C>T (p.Asp695=)
c.1701C>T (p.Asp567=)
c.1920C>T (p.Asp640=)
10g.110812483A>CCA378371504RBM20c.2086A>C (p.Asn696His)
c.1702A>C (p.Asn568His)
c.1921A>C (p.Asn641His)
10g.110812483A>GCA378371510RBM20c.2086A>G (p.Asn696Asp)
c.1702A>G (p.Asn568Asp)
c.1921A>G (p.Asn641Asp)
 ClinVar dbSNP
10g.110812483A>TCA378371514RBM20c.2086A>T (p.Asn696Tyr)
c.1702A>T (p.Asn568Tyr)
c.1921A>T (p.Asn641Tyr)
10g.110812484A>CCA378371530RBM20c.2087A>C (p.Asn696Thr)
c.1703A>C (p.Asn568Thr)
c.1922A>C (p.Asn641Thr)
 dbSNP
10g.110812484A>GCA378371521RBM20c.2087A>G (p.Asn696Ser)
c.1703A>G (p.Asn568Ser)
c.1922A>G (p.Asn641Ser)
 ClinVar dbSNP
10g.110812484A>TCA378371524RBM20c.2087A>T (p.Asn696Ile)
c.1703A>T (p.Asn568Ile)
c.1922A>T (p.Asn641Ile)
10g.110812485delCA932526619RBM20c.2088del (p.Asn696LysfsTer?)
c.1704del (p.Asn568LysfsTer?)
c.1923del (p.Asn641LysfsTer?)
 dbSNP
10g.110812485C>ACA378371533RBM20c.2088C>A (p.Asn696Lys)
c.1704C>A (p.Asn568Lys)
c.1923C>A (p.Asn641Lys)
10g.110812485C>GCA378371542RBM20c.2088C>G (p.Asn696Lys)
c.1704C>G (p.Asn568Lys)
c.1923C>G (p.Asn641Lys)
10g.110812485C>TCA471506917RBM20c.2088C>T (p.Asn696=)
c.1704C>T (p.Asn568=)
c.1923C>T (p.Asn641=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812486G>ACA346597RBM20c.2089G>A (p.Gly697Arg)
c.1705G>A (p.Gly569Arg)
c.1924G>A (p.Gly642Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812486G>CCA378371548RBM20c.2089G>C (p.Gly697Arg)
c.1705G>C (p.Gly569Arg)
c.1924G>C (p.Gly642Arg)
10g.110812486G>TCA378371550RBM20c.2089G>T (p.Gly697Ter)
c.1705G>T (p.Gly569Ter)
c.1924G>T (p.Gly642Ter)
 gnomAD v4
10g.110812487G>ACA378371553RBM20c.2090G>A (p.Gly697Glu)
c.1706G>A (p.Gly569Glu)
c.1925G>A (p.Gly642Glu)
10g.110812487G>CCA378371558RBM20c.2090G>C (p.Gly697Ala)
c.1706G>C (p.Gly569Ala)
c.1925G>C (p.Gly642Ala)
10g.110812487G>TCA378371563RBM20c.2090G>T (p.Gly697Val)
c.1706G>T (p.Gly569Val)
c.1925G>T (p.Gly642Val)
10g.110812488A>CCA471506925RBM20c.2091A>C (p.Gly697=)
c.1707A>C (p.Gly569=)
c.1926A>C (p.Gly642=)
10g.110812488A>GCA471506928RBM20c.2091A>G (p.Gly697=)
c.1707A>G (p.Gly569=)
c.1926A>G (p.Gly642=)
10g.110812488A>TCA471506929RBM20c.2091A>T (p.Gly697=)
c.1707A>T (p.Gly569=)
c.1926A>T (p.Gly642=)

Number of alleles fetched