Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812322C>ACA378370380RBM20c.1925C>A (p.Ser642Ter)
c.1541C>A (p.Ser514Ter)
c.1760C>A (p.Ser587Ter)
 gnomAD v4
10g.110812322C>GCA378370382RBM20c.1925C>G (p.Ser642Ter)
c.1541C>G (p.Ser514Ter)
c.1760C>G (p.Ser587Ter)
10g.110812322C>TCA378370384RBM20c.1925C>T (p.Ser642Leu)
c.1541C>T (p.Ser514Leu)
c.1760C>T (p.Ser587Leu)
10g.110812323A>CCA471368056RBM20c.1926A>C (p.Ser642=)
c.1542A>C (p.Ser514=)
c.1761A>C (p.Ser587=)
 dbSNP gnomAD v4
10g.110812323A>GCA471368057RBM20c.1926A>G (p.Ser642=)
c.1542A>G (p.Ser514=)
c.1761A>G (p.Ser587=)
10g.110812323A>TCA471368058RBM20c.1926A>T (p.Ser642=)
c.1542A>T (p.Ser514=)
c.1761A>T (p.Ser587=)
10g.110812324C>ACA378370385RBM20c.1927C>A (p.Leu643Ile)
c.1543C>A (p.Leu515Ile)
c.1762C>A (p.Leu588Ile)
10g.110812324C>GCA378370387RBM20c.1927C>G (p.Leu643Val)
c.1543C>G (p.Leu515Val)
c.1762C>G (p.Leu588Val)
10g.110812324C>TCA378370389RBM20c.1927C>T (p.Leu643Phe)
c.1543C>T (p.Leu515Phe)
c.1762C>T (p.Leu588Phe)
10g.110812325T>ACA378370391RBM20c.1928T>A (p.Leu643His)
c.1544T>A (p.Leu515His)
c.1763T>A (p.Leu588His)
10g.110812325T>CCA378370393RBM20c.1928T>C (p.Leu643Pro)
c.1544T>C (p.Leu515Pro)
c.1763T>C (p.Leu588Pro)
10g.110812325T>GCA378370395RBM20c.1928T>G (p.Leu643Arg)
c.1544T>G (p.Leu515Arg)
c.1763T>G (p.Leu588Arg)
10g.110812326C>ACA471368059RBM20c.1929C>A (p.Leu643=)
c.1545C>A (p.Leu515=)
c.1764C>A (p.Leu588=)
 dbSNP gnomAD v2
10g.110812326C>GCA471368061RBM20c.1929C>G (p.Leu643=)
c.1545C>G (p.Leu515=)
c.1764C>G (p.Leu588=)
10g.110812326C>TCA471368060RBM20c.1929C>T (p.Leu643=)
c.1545C>T (p.Leu515=)
c.1764C>T (p.Leu588=)
10g.110812327T>ACA378370397RBM20c.1930T>A (p.Ser644Thr)
c.1546T>A (p.Ser516Thr)
c.1765T>A (p.Ser589Thr)
10g.110812327T>CCA378370399RBM20c.1930T>C (p.Ser644Pro)
c.1546T>C (p.Ser516Pro)
c.1765T>C (p.Ser589Pro)
10g.110812327T>GCA378370401RBM20c.1930T>G (p.Ser644Ala)
c.1546T>G (p.Ser516Ala)
c.1765T>G (p.Ser589Ala)
10g.110812328C>ACA378370405RBM20c.1931C>A (p.Ser644Tyr)
c.1547C>A (p.Ser516Tyr)
c.1766C>A (p.Ser589Tyr)
10g.110812328C>GCA5688651RBM20c.1931C>G (p.Ser644Cys)
c.1547C>G (p.Ser516Cys)
c.1766C>G (p.Ser589Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812328C>TCA378370403RBM20c.1931C>T (p.Ser644Phe)
c.1547C>T (p.Ser516Phe)
c.1766C>T (p.Ser589Phe)
10g.110812329C>ACA471368064RBM20c.1932C>A (p.Ser644=)
c.1548C>A (p.Ser516=)
c.1767C>A (p.Ser589=)
10g.110812329C>GCA471368063RBM20c.1932C>G (p.Ser644=)
c.1548C>G (p.Ser516=)
c.1767C>G (p.Ser589=)
10g.110812329C>TCA471368062RBM20c.1932C>T (p.Ser644=)
c.1548C>T (p.Ser516=)
c.1767C>T (p.Ser589=)
10g.110812330C>ACA378370408RBM20c.1933C>A (p.Pro645Thr)
c.1549C>A (p.Pro517Thr)
c.1768C>A (p.Pro590Thr)
10g.110812330C>GCA378370410RBM20c.1933C>G (p.Pro645Ala)
c.1549C>G (p.Pro517Ala)
c.1768C>G (p.Pro590Ala)
10g.110812330C>TCA378370411RBM20c.1933C>T (p.Pro645Ser)
c.1549C>T (p.Pro517Ser)
c.1768C>T (p.Pro590Ser)
 gnomAD v4
10g.110812330_110812332delCA2610892814RBM20c.1933_1935del (p.Pro645del)
c.1549_1551del (p.Pro517del)
c.1768_1770del (p.Pro590del)
 gnomAD v4
10g.110812331C>ACA378370414RBM20c.1934C>A (p.Pro645Gln)
c.1550C>A (p.Pro517Gln)
c.1769C>A (p.Pro590Gln)
 gnomAD v4
10g.110812331C>GCA378370416RBM20c.1934C>G (p.Pro645Arg)
c.1550C>G (p.Pro517Arg)
c.1769C>G (p.Pro590Arg)
10g.110812331C>TCA5688652RBM20c.1934C>T (p.Pro645Leu)
c.1550C>T (p.Pro517Leu)
c.1769C>T (p.Pro590Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812332G>ACA5688653RBM20c.1935G>A (p.Pro645=)
c.1551G>A (p.Pro517=)
c.1770G>A (p.Pro590=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812332G>CCA471368066RBM20c.1935G>C (p.Pro645=)
c.1551G>C (p.Pro517=)
c.1770G>C (p.Pro590=)
10g.110812332G>TCA471368065RBM20c.1935G>T (p.Pro645=)
c.1551G>T (p.Pro517=)
c.1770G>T (p.Pro590=)
 gnomAD v4
10g.110812333A>CCA471368067RBM20c.1936A>C (p.Arg646=)
c.1552A>C (p.Arg518=)
c.1771A>C (p.Arg591=)
10g.110812333A>GCA378370421RBM20c.1936A>G (p.Arg646Gly)
c.1552A>G (p.Arg518Gly)
c.1771A>G (p.Arg591Gly)
10g.110812333A>TCA378370423RBM20c.1936A>T (p.Arg646Trp)
c.1552A>T (p.Arg518Trp)
c.1771A>T (p.Arg591Trp)
10g.110812334G>ACA378370425RBM20c.1937G>A (p.Arg646Lys)
c.1553G>A (p.Arg518Lys)
c.1772G>A (p.Arg591Lys)
 gnomAD v4
10g.110812334G>CCA378370427RBM20c.1937G>C (p.Arg646Thr)
c.1553G>C (p.Arg518Thr)
c.1772G>C (p.Arg591Thr)
10g.110812334G>TCA378370429RBM20c.1937G>T (p.Arg646Met)
c.1553G>T (p.Arg518Met)
c.1772G>T (p.Arg591Met)
 gnomAD v4
10g.110812335G>ACA471368068RBM20c.1938G>A (p.Arg646=)
c.1554G>A (p.Arg518=)
c.1773G>A (p.Arg591=)
 gnomAD v4
10g.110812335G>CCA378370431RBM20c.1938G>C (p.Arg646Ser)
c.1554G>C (p.Arg518Ser)
c.1773G>C (p.Arg591Ser)
10g.110812335G>TCA378370432RBM20c.1938G>T (p.Arg646Ser)
c.1554G>T (p.Arg518Ser)
c.1773G>T (p.Arg591Ser)
10g.110812336T>ACA378370440RBM20c.1939T>A (p.Ser647Thr)
c.1555T>A (p.Ser519Thr)
c.1774T>A (p.Ser592Thr)
 gnomAD v4
10g.110812336T>CCA378370435RBM20c.1939T>C (p.Ser647Pro)
c.1555T>C (p.Ser519Pro)
c.1774T>C (p.Ser592Pro)
10g.110812336T>GCA378370437RBM20c.1939T>G (p.Ser647Ala)
c.1555T>G (p.Ser519Ala)
c.1774T>G (p.Ser592Ala)
10g.110812337C>ACA378370442RBM20c.1940C>A (p.Ser647Tyr)
c.1556C>A (p.Ser519Tyr)
c.1775C>A (p.Ser592Tyr)
10g.110812337C>GCA378370444RBM20c.1940C>G (p.Ser647Cys)
c.1556C>G (p.Ser519Cys)
c.1775C>G (p.Ser592Cys)
10g.110812337C>TCA378370446RBM20c.1940C>T (p.Ser647Phe)
c.1556C>T (p.Ser519Phe)
c.1775C>T (p.Ser592Phe)
 ClinVar gnomAD v4
10g.110812338C>ACA471368069RBM20c.1941C>A (p.Ser647=)
c.1557C>A (p.Ser519=)
c.1776C>A (p.Ser592=)
10g.110812338C>GCA471368070RBM20c.1941C>G (p.Ser647=)
c.1557C>G (p.Ser519=)
c.1776C>G (p.Ser592=)
 ClinVar gnomAD v4
10g.110812338C>TCA471368071RBM20c.1941C>T (p.Ser647=)
c.1557C>T (p.Ser519=)
c.1776C>T (p.Ser592=)
 gnomAD v4
10g.110812339C>ACA378370448RBM20c.1942C>A (p.His648Asn)
c.1558C>A (p.His520Asn)
c.1777C>A (p.His593Asn)
10g.110812339C>GCA378370450RBM20c.1942C>G (p.His648Asp)
c.1558C>G (p.His520Asp)
c.1777C>G (p.His593Asp)
10g.110812339C>TCA378370452RBM20c.1942C>T (p.His648Tyr)
c.1558C>T (p.His520Tyr)
c.1777C>T (p.His593Tyr)
10g.110812340A>CCA378370459RBM20c.1943A>C (p.His648Pro)
c.1559A>C (p.His520Pro)
c.1778A>C (p.His593Pro)
10g.110812340A>GCA378370455RBM20c.1943A>G (p.His648Arg)
c.1559A>G (p.His520Arg)
c.1778A>G (p.His593Arg)
10g.110812340A>TCA378370457RBM20c.1943A>T (p.His648Leu)
c.1559A>T (p.His520Leu)
c.1778A>T (p.His593Leu)
10g.110812341C>ACA378370460RBM20c.1944C>A (p.His648Gln)
c.1560C>A (p.His520Gln)
c.1779C>A (p.His593Gln)
 ClinVar dbSNP gnomAD v4
10g.110812341C>GCA378370461RBM20c.1944C>G (p.His648Gln)
c.1560C>G (p.His520Gln)
c.1779C>G (p.His593Gln)
10g.110812341C>TCA471368072RBM20c.1944C>T (p.His648=)
c.1560C>T (p.His520=)
c.1779C>T (p.His593=)
10g.110812342A>CCA378370462RBM20c.1945A>C (p.Thr649Pro)
c.1561A>C (p.Thr521Pro)
c.1780A>C (p.Thr594Pro)
10g.110812342A>GCA378370463RBM20c.1945A>G (p.Thr649Ala)
c.1561A>G (p.Thr521Ala)
c.1780A>G (p.Thr594Ala)
10g.110812342A>TCA378370465RBM20c.1945A>T (p.Thr649Ser)
c.1561A>T (p.Thr521Ser)
c.1780A>T (p.Thr594Ser)
10g.110812343C>ACA378370467RBM20c.1946C>A (p.Thr649Asn)
c.1562C>A (p.Thr521Asn)
c.1781C>A (p.Thr594Asn)
10g.110812343C>GCA378370473RBM20c.1946C>G (p.Thr649Ser)
c.1562C>G (p.Thr521Ser)
c.1781C>G (p.Thr594Ser)
10g.110812343C>TCA378370470RBM20c.1946C>T (p.Thr649Ile)
c.1562C>T (p.Thr521Ile)
c.1781C>T (p.Thr594Ile)
 ClinVar dbSNP
10g.110812344T>ACA471368073RBM20c.1947T>A (p.Thr649=)
c.1563T>A (p.Thr521=)
c.1782T>A (p.Thr594=)
10g.110812344T>CCA471368074RBM20c.1947T>C (p.Thr649=)
c.1563T>C (p.Thr521=)
c.1782T>C (p.Thr594=)
 gnomAD v4
10g.110812344T>GCA471368075RBM20c.1947T>G (p.Thr649=)
c.1563T>G (p.Thr521=)
c.1782T>G (p.Thr594=)
10g.110812345C>ACA378370475RBM20c.1948C>A (p.Pro650Thr)
c.1564C>A (p.Pro522Thr)
c.1783C>A (p.Pro595Thr)
10g.110812345C>GCA378370476RBM20c.1948C>G (p.Pro650Ala)
c.1564C>G (p.Pro522Ala)
c.1783C>G (p.Pro595Ala)
10g.110812345C>TCA378370479RBM20c.1948C>T (p.Pro650Ser)
c.1564C>T (p.Pro522Ser)
c.1783C>T (p.Pro595Ser)
 ClinVar dbSNP gnomAD v4
10g.110812346C>ACA378370481RBM20c.1949C>A (p.Pro650His)
c.1565C>A (p.Pro522His)
c.1784C>A (p.Pro595His)
 gnomAD v4
10g.110812346C>GCA378370483RBM20c.1949C>G (p.Pro650Arg)
c.1565C>G (p.Pro522Arg)
c.1784C>G (p.Pro595Arg)
10g.110812346C>TCA213223610RBM20c.1949C>T (p.Pro650Leu)
c.1565C>T (p.Pro522Leu)
c.1784C>T (p.Pro595Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812347C>ACA471368076RBM20c.1950C>A (p.Pro650=)
c.1566C>A (p.Pro522=)
c.1785C>A (p.Pro595=)
10g.110812347C>GCA471368078RBM20c.1950C>G (p.Pro650=)
c.1566C>G (p.Pro522=)
c.1785C>G (p.Pro595=)
 gnomAD v4
10g.110812347C>TCA471368077RBM20c.1950C>T (p.Pro650=)
c.1566C>T (p.Pro522=)
c.1785C>T (p.Pro595=)
 gnomAD v4
10g.110812348A>CCA378370489RBM20c.1951A>C (p.Ser651Arg)
c.1567A>C (p.Ser523Arg)
c.1786A>C (p.Ser596Arg)
10g.110812348A>GCA378370486RBM20c.1951A>G (p.Ser651Gly)
c.1567A>G (p.Ser523Gly)
c.1786A>G (p.Ser596Gly)
 dbSNP
10g.110812348A>TCA378370488RBM20c.1951A>T (p.Ser651Cys)
c.1567A>T (p.Ser523Cys)
c.1786A>T (p.Ser596Cys)
10g.110812349G>ACA378370490RBM20c.1952G>A (p.Ser651Asn)
c.1568G>A (p.Ser523Asn)
c.1787G>A (p.Ser596Asn)
10g.110812349G>CCA378370492RBM20c.1952G>C (p.Ser651Thr)
c.1568G>C (p.Ser523Thr)
c.1787G>C (p.Ser596Thr)
10g.110812349G>TCA378370494RBM20c.1952G>T (p.Ser651Ile)
c.1568G>T (p.Ser523Ile)
c.1787G>T (p.Ser596Ile)
10g.110812350C>ACA378370496RBM20c.1953C>A (p.Ser651Arg)
c.1569C>A (p.Ser523Arg)
c.1788C>A (p.Ser596Arg)
10g.110812350C>GCA378370497RBM20c.1953C>G (p.Ser651Arg)
c.1569C>G (p.Ser523Arg)
c.1788C>G (p.Ser596Arg)
10g.110812350C>TCA471368079RBM20c.1953C>T (p.Ser651=)
c.1569C>T (p.Ser523=)
c.1788C>T (p.Ser596=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812351T>ACA378370498RBM20c.1954T>A (p.Phe652Ile)
c.1570T>A (p.Phe524Ile)
c.1789T>A (p.Phe597Ile)
10g.110812351T>CCA378370502RBM20c.1954T>C (p.Phe652Leu)
c.1570T>C (p.Phe524Leu)
c.1789T>C (p.Phe597Leu)
10g.110812351T>GCA378370500RBM20c.1954T>G (p.Phe652Val)
c.1570T>G (p.Phe524Val)
c.1789T>G (p.Phe597Val)
10g.110812352T>ACA378370503RBM20c.1955T>A (p.Phe652Tyr)
c.1571T>A (p.Phe524Tyr)
c.1790T>A (p.Phe597Tyr)
10g.110812352T>CCA378370504RBM20c.1955T>C (p.Phe652Ser)
c.1571T>C (p.Phe524Ser)
c.1790T>C (p.Phe597Ser)
10g.110812352T>GCA378370505RBM20c.1955T>G (p.Phe652Cys)
c.1571T>G (p.Phe524Cys)
c.1790T>G (p.Phe597Cys)
 gnomAD v4
10g.110812353C>ACA378370507RBM20c.1956C>A (p.Phe652Leu)
c.1572C>A (p.Phe524Leu)
c.1791C>A (p.Phe597Leu)
10g.110812353C>GCA378370510RBM20c.1956C>G (p.Phe652Leu)
c.1572C>G (p.Phe524Leu)
c.1791C>G (p.Phe597Leu)
10g.110812353C>TCA471368080RBM20c.1956C>T (p.Phe652=)
c.1572C>T (p.Phe524=)
c.1791C>T (p.Phe597=)
10g.110812354A>CCA378370513RBM20c.1957A>C (p.Thr653Pro)
c.1573A>C (p.Thr525Pro)
c.1792A>C (p.Thr598Pro)
10g.110812354A>GCA378370515RBM20c.1957A>G (p.Thr653Ala)
c.1573A>G (p.Thr525Ala)
c.1792A>G (p.Thr598Ala)
10g.110812354A>TCA378370520RBM20c.1957A>T (p.Thr653Ser)
c.1573A>T (p.Thr525Ser)
c.1792A>T (p.Thr598Ser)
10g.110812355C>ACA378370524RBM20c.1958C>A (p.Thr653Asn)
c.1574C>A (p.Thr525Asn)
c.1793C>A (p.Thr598Asn)
 gnomAD v4
10g.110812355C>GCA378370526RBM20c.1958C>G (p.Thr653Ser)
c.1574C>G (p.Thr525Ser)
c.1793C>G (p.Thr598Ser)
10g.110812355C>TCA185702RBM20c.1958C>T (p.Thr653Ile)
c.1574C>T (p.Thr525Ile)
c.1793C>T (p.Thr598Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812356C>ACA471368081RBM20c.1959C>A (p.Thr653=)
c.1575C>A (p.Thr525=)
c.1794C>A (p.Thr598=)
10g.110812356C>GCA471368082RBM20c.1959C>G (p.Thr653=)
c.1575C>G (p.Thr525=)
c.1794C>G (p.Thr598=)
10g.110812356C>TCA471368083RBM20c.1959C>T (p.Thr653=)
c.1575C>T (p.Thr525=)
c.1794C>T (p.Thr598=)
 ClinVar
10g.110812357T>ACA378370530RBM20c.1960T>A (p.Ser654Thr)
c.1576T>A (p.Ser526Thr)
c.1795T>A (p.Ser599Thr)
10g.110812357T>CCA378370535RBM20c.1960T>C (p.Ser654Pro)
c.1576T>C (p.Ser526Pro)
c.1795T>C (p.Ser599Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812357T>GCA378370532RBM20c.1960T>G (p.Ser654Ala)
c.1576T>G (p.Ser526Ala)
c.1795T>G (p.Ser599Ala)
10g.110812358C>ACA378370537RBM20c.1961C>A (p.Ser654Tyr)
c.1577C>A (p.Ser526Tyr)
c.1796C>A (p.Ser599Tyr)
10g.110812358C>GCA378370542RBM20c.1961C>G (p.Ser654Cys)
c.1577C>G (p.Ser526Cys)
c.1796C>G (p.Ser599Cys)
10g.110812358C>TCA378370539RBM20c.1961C>T (p.Ser654Phe)
c.1577C>T (p.Ser526Phe)
c.1796C>T (p.Ser599Phe)
 ClinVar
10g.110812359C>ACA471368084RBM20c.1962C>A (p.Ser654=)
c.1578C>A (p.Ser526=)
c.1797C>A (p.Ser599=)
10g.110812359C>GCA471368085RBM20c.1962C>G (p.Ser654=)
c.1578C>G (p.Ser526=)
c.1797C>G (p.Ser599=)
 gnomAD v4
10g.110812359C>TCA16612732RBM20c.1962C>T (p.Ser654=)
c.1578C>T (p.Ser526=)
c.1797C>T (p.Ser599=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812360T>ACA378370546RBM20c.1963T>A (p.Cys655Ser)
c.1579T>A (p.Cys527Ser)
c.1798T>A (p.Cys600Ser)
10g.110812360T>CCA378370549RBM20c.1963T>C (p.Cys655Arg)
c.1579T>C (p.Cys527Arg)
c.1798T>C (p.Cys600Arg)
10g.110812360T>GCA378370552RBM20c.1963T>G (p.Cys655Gly)
c.1579T>G (p.Cys527Gly)
c.1798T>G (p.Cys600Gly)
10g.110812361G>ACA378370555RBM20c.1964G>A (p.Cys655Tyr)
c.1580G>A (p.Cys527Tyr)
c.1799G>A (p.Cys600Tyr)
10g.110812361G>CCA378370556RBM20c.1964G>C (p.Cys655Ser)
c.1580G>C (p.Cys527Ser)
c.1799G>C (p.Cys600Ser)
10g.110812361G>TCA378370557RBM20c.1964G>T (p.Cys655Phe)
c.1580G>T (p.Cys527Phe)
c.1799G>T (p.Cys600Phe)
 gnomAD v4
10g.110812362C>ACA378370561RBM20c.1965C>A (p.Cys655Ter)
c.1581C>A (p.Cys527Ter)
c.1800C>A (p.Cys600Ter)
 gnomAD v4
10g.110812362C>GCA378370567RBM20c.1965C>G (p.Cys655Trp)
c.1581C>G (p.Cys527Trp)
c.1800C>G (p.Cys600Trp)
10g.110812362C>TCA471368086RBM20c.1965C>T (p.Cys655=)
c.1581C>T (p.Cys527=)
c.1800C>T (p.Cys600=)
10g.110812363A>CCA378370570RBM20c.1966A>C (p.Ser656Arg)
c.1582A>C (p.Ser528Arg)
c.1801A>C (p.Ser601Arg)
10g.110812363A>GCA378370572RBM20c.1966A>G (p.Ser656Gly)
c.1582A>G (p.Ser528Gly)
c.1801A>G (p.Ser601Gly)
10g.110812363A>TCA378370574RBM20c.1966A>T (p.Ser656Cys)
c.1582A>T (p.Ser528Cys)
c.1801A>T (p.Ser601Cys)
10g.110812364G>ACA378370582RBM20c.1967G>A (p.Ser656Asn)
c.1583G>A (p.Ser528Asn)
c.1802G>A (p.Ser601Asn)
 gnomAD v4
10g.110812364G>CCA378370577RBM20c.1967G>C (p.Ser656Thr)
c.1583G>C (p.Ser528Thr)
c.1802G>C (p.Ser601Thr)
10g.110812364G>TCA378370579RBM20c.1967G>T (p.Ser656Ile)
c.1583G>T (p.Ser528Ile)
c.1802G>T (p.Ser601Ile)
10g.110812365C>ACA378370585RBM20c.1968C>A (p.Ser656Arg)
c.1584C>A (p.Ser528Arg)
c.1803C>A (p.Ser601Arg)
10g.110812365C>GCA378370588RBM20c.1968C>G (p.Ser656Arg)
c.1584C>G (p.Ser528Arg)
c.1803C>G (p.Ser601Arg)
10g.110812365C>TCA471368087RBM20c.1968C>T (p.Ser656=)
c.1584C>T (p.Ser528=)
c.1803C>T (p.Ser601=)
10g.110812366T>ACA213223631RBM20c.1969T>A (p.Ser657Thr)
c.1585T>A (p.Ser529Thr)
c.1804T>A (p.Ser602Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812366T>CCA378370592RBM20c.1969T>C (p.Ser657Pro)
c.1585T>C (p.Ser529Pro)
c.1804T>C (p.Ser602Pro)
10g.110812366T>GCA378370594RBM20c.1969T>G (p.Ser657Ala)
c.1585T>G (p.Ser529Ala)
c.1804T>G (p.Ser602Ala)
10g.110812366_110812367delinsAGCA658797537RBM20c.1969_1970delinsAG (p.Ser657=)
c.1585_1586delinsAG (p.Ser529=)
c.1804_1805delinsAG (p.Ser602=)
 ClinVar dbSNP
10g.110812366_110812367delinsATCA1139770359RBM20c.1969_1970delinsAT (p.Ser657Ile)
c.1585_1586delinsAT (p.Ser529Ile)
c.1804_1805delinsAT (p.Ser602Ile)
 ClinVar
10g.110812367C>ACA378370595RBM20c.1970C>A (p.Ser657Tyr)
c.1586C>A (p.Ser529Tyr)
c.1805C>A (p.Ser602Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.110812367C>GCA213223641RBM20c.1970C>G (p.Ser657Cys)
c.1586C>G (p.Ser529Cys)
c.1805C>G (p.Ser602Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812367C>TCA378370607RBM20c.1970C>T (p.Ser657Phe)
c.1586C>T (p.Ser529Phe)
c.1805C>T (p.Ser602Phe)
 gnomAD v4
10g.110812368T>ACA471368089RBM20c.1971T>A (p.Ser657=)
c.1587T>A (p.Ser529=)
c.1806T>A (p.Ser602=)
10g.110812368T>CCA471368090RBM20c.1971T>C (p.Ser657=)
c.1587T>C (p.Ser529=)
c.1806T>C (p.Ser602=)
10g.110812368T>GCA471368088RBM20c.1971T>G (p.Ser657=)
c.1587T>G (p.Ser529=)
c.1806T>G (p.Ser602=)
10g.110812369T>ACA378370611RBM20c.1972T>A (p.Ser658Thr)
c.1588T>A (p.Ser530Thr)
c.1807T>A (p.Ser603Thr)
10g.110812369T>CCA378370614RBM20c.1972T>C (p.Ser658Pro)
c.1588T>C (p.Ser530Pro)
c.1807T>C (p.Ser603Pro)
10g.110812369T>GCA378370625RBM20c.1972T>G (p.Ser658Ala)
c.1588T>G (p.Ser530Ala)
c.1807T>G (p.Ser603Ala)
10g.110812372_110812382delCA596112340RBM20c.1975_1985del (p.His659GlyfsTer6)
c.1591_1601del (p.His531GlyfsTer6)
c.1810_1820del (p.His604GlyfsTer6)
 dbSNP gnomAD v2 gnomAD v4
10g.110812370C>ACA378370630RBM20c.1973C>A (p.Ser658Tyr)
c.1589C>A (p.Ser530Tyr)
c.1808C>A (p.Ser603Tyr)
10g.110812370C>GCA133292RBM20c.1973C>G (p.Ser658Cys)
c.1589C>G (p.Ser530Cys)
c.1808C>G (p.Ser603Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812370C>TCA378370627RBM20c.1973C>T (p.Ser658Phe)
c.1589C>T (p.Ser530Phe)
c.1808C>T (p.Ser603Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.110812371C>ACA471368092RBM20c.1974C>A (p.Ser658=)
c.1590C>A (p.Ser530=)
c.1809C>A (p.Ser603=)
10g.110812371C>GCA471368091RBM20c.1974C>G (p.Ser658=)
c.1590C>G (p.Ser530=)
c.1809C>G (p.Ser603=)
10g.110812371C>TCA5688654RBM20c.1974C>T (p.Ser658=)
c.1590C>T (p.Ser530=)
c.1809C>T (p.Ser603=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812372C>ACA378370637RBM20c.1975C>A (p.His659Asn)
c.1591C>A (p.His531Asn)
c.1810C>A (p.His604Asn)
10g.110812372C>GCA378370639RBM20c.1975C>G (p.His659Asp)
c.1591C>G (p.His531Asp)
c.1810C>G (p.His604Asp)
10g.110812372C>TCA5688655RBM20c.1975C>T (p.His659Tyr)
c.1591C>T (p.His531Tyr)
c.1810C>T (p.His604Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812373A>CCA378370644RBM20c.1976A>C (p.His659Pro)
c.1592A>C (p.His531Pro)
c.1811A>C (p.His604Pro)
10g.110812373A>GCA378370651RBM20c.1976A>G (p.His659Arg)
c.1592A>G (p.His531Arg)
c.1811A>G (p.His604Arg)
10g.110812373A>TCA378370654RBM20c.1976A>T (p.His659Leu)
c.1592A>T (p.His531Leu)
c.1811A>T (p.His604Leu)
10g.110812374C>ACA378370655RBM20c.1977C>A (p.His659Gln)
c.1593C>A (p.His531Gln)
c.1812C>A (p.His604Gln)
10g.110812374C>GCA378370656RBM20c.1977C>G (p.His659Gln)
c.1593C>G (p.His531Gln)
c.1812C>G (p.His604Gln)
10g.110812374C>TCA471368093RBM20c.1977C>T (p.His659=)
c.1593C>T (p.His531=)
c.1812C>T (p.His604=)
 gnomAD v4
10g.110812375delCA2574667578RBM20c.1978del (p.Ser660AlafsTer?)
c.1594del (p.Ser532AlafsTer?)
c.1813del (p.Ser605AlafsTer?)
10g.110812375A>CCA378370659RBM20c.1978A>C (p.Ser660Arg)
c.1594A>C (p.Ser532Arg)
c.1813A>C (p.Ser605Arg)
10g.110812375A>GCA378370662RBM20c.1978A>G (p.Ser660Gly)
c.1594A>G (p.Ser532Gly)
c.1813A>G (p.Ser605Gly)
 gnomAD v4
10g.110812375A>TCA378370665RBM20c.1978A>T (p.Ser660Cys)
c.1594A>T (p.Ser532Cys)
c.1813A>T (p.Ser605Cys)
10g.110812376G>ACA378370673RBM20c.1979G>A (p.Ser660Asn)
c.1595G>A (p.Ser532Asn)
c.1814G>A (p.Ser605Asn)
10g.110812376G>CCA378370676RBM20c.1979G>C (p.Ser660Thr)
c.1595G>C (p.Ser532Thr)
c.1814G>C (p.Ser605Thr)
10g.110812376G>TCA378370670RBM20c.1979G>T (p.Ser660Ile)
c.1595G>T (p.Ser532Ile)
c.1814G>T (p.Ser605Ile)
10g.110812377C>ACA378370679RBM20c.1980C>A (p.Ser660Arg)
c.1596C>A (p.Ser532Arg)
c.1815C>A (p.Ser605Arg)
 ClinVar gnomAD v4
10g.110812377C>GCA378370682RBM20c.1980C>G (p.Ser660Arg)
c.1596C>G (p.Ser532Arg)
c.1815C>G (p.Ser605Arg)
10g.110812377C>TCA471368094RBM20c.1980C>T (p.Ser660=)
c.1596C>T (p.Ser532=)
c.1815C>T (p.Ser605=)
10g.110812378C>ACA378370684RBM20c.1981C>A (p.Pro661Thr)
c.1597C>A (p.Pro533Thr)
c.1816C>A (p.Pro606Thr)
10g.110812378C>GCA378370695RBM20c.1981C>G (p.Pro661Ala)
c.1597C>G (p.Pro533Ala)
c.1816C>G (p.Pro606Ala)
10g.110812378C>TCA378370699RBM20c.1981C>T (p.Pro661Ser)
c.1597C>T (p.Pro533Ser)
c.1816C>T (p.Pro606Ser)
 dbSNP gnomAD v2
10g.110812379C>ACA378370708RBM20c.1982C>A (p.Pro661His)
c.1598C>A (p.Pro533His)
c.1817C>A (p.Pro606His)
10g.110812379C>GCA378370704RBM20c.1982C>G (p.Pro661Arg)
c.1598C>G (p.Pro533Arg)
c.1817C>G (p.Pro606Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812379C>TCA378370706RBM20c.1982C>T (p.Pro661Leu)
c.1598C>T (p.Pro533Leu)
c.1817C>T (p.Pro606Leu)
10g.110812380T>ACA471368095RBM20c.1983T>A (p.Pro661=)
c.1599T>A (p.Pro533=)
c.1818T>A (p.Pro606=)
10g.110812380T>CCA471368096RBM20c.1983T>C (p.Pro661=)
c.1599T>C (p.Pro533=)
c.1818T>C (p.Pro606=)
10g.110812380T>GCA471368097RBM20c.1983T>G (p.Pro661=)
c.1599T>G (p.Pro533=)
c.1818T>G (p.Pro606=)
10g.110812381C>ACA378370711RBM20c.1984C>A (p.Pro662Thr)
c.1600C>A (p.Pro534Thr)
c.1819C>A (p.Pro607Thr)
10g.110812381C>GCA378370714RBM20c.1984C>G (p.Pro662Ala)
c.1600C>G (p.Pro534Ala)
c.1819C>G (p.Pro607Ala)
 ClinVar
10g.110812381C>TCA5688656RBM20c.1984C>T (p.Pro662Ser)
c.1600C>T (p.Pro534Ser)
c.1819C>T (p.Pro607Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812387_110812397delCA2573145560RBM20c.1990_2000del (p.Pro664Ter)
c.1606_1616del (p.Pro536Ter)
c.1825_1835del (p.Pro609Ter)
 ClinVar dbSNP
10g.110812382C>ACA378370720RBM20c.1985C>A (p.Pro662Gln)
c.1601C>A (p.Pro534Gln)
c.1820C>A (p.Pro607Gln)
 dbSNP gnomAD v4
10g.110812382C>GCA378370726RBM20c.1985C>G (p.Pro662Arg)
c.1601C>G (p.Pro534Arg)
c.1820C>G (p.Pro607Arg)
10g.110812382C>TCA213223650RBM20c.1985C>T (p.Pro662Leu)
c.1601C>T (p.Pro534Leu)
c.1820C>T (p.Pro607Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812383G>ACA184745RBM20c.1986G>A (p.Pro662=)
c.1602G>A (p.Pro534=)
c.1821G>A (p.Pro607=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812383G>CCA471368098RBM20c.1986G>C (p.Pro662=)
c.1602G>C (p.Pro534=)
c.1821G>C (p.Pro607=)
10g.110812383G>TCA471368099RBM20c.1986G>T (p.Pro662=)
c.1602G>T (p.Pro534=)
c.1821G>T (p.Pro607=)
10g.110812384G>ACA378370746RBM20c.1987G>A (p.Gly663Ser)
c.1603G>A (p.Gly535Ser)
c.1822G>A (p.Gly608Ser)
 gnomAD v4
10g.110812384G>CCA378370744RBM20c.1987G>C (p.Gly663Arg)
c.1603G>C (p.Gly535Arg)
c.1822G>C (p.Gly608Arg)
10g.110812384G>TCA378370750RBM20c.1987G>T (p.Gly663Cys)
c.1603G>T (p.Gly535Cys)
c.1822G>T (p.Gly608Cys)
10g.110812385G>ACA348688RBM20c.1988G>A (p.Gly663Asp)
c.1604G>A (p.Gly535Asp)
c.1823G>A (p.Gly608Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812385G>CCA378370756RBM20c.1988G>C (p.Gly663Ala)
c.1604G>C (p.Gly535Ala)
c.1823G>C (p.Gly608Ala)
 gnomAD v4
10g.110812385G>TCA378370759RBM20c.1988G>T (p.Gly663Val)
c.1604G>T (p.Gly535Val)
c.1823G>T (p.Gly608Val)
10g.110812385_110812386insTCA2610892815RBM20c.1988_1989insT (p.Ser665LeufsTer4)
c.1604_1605insT (p.Ser537LeufsTer4)
c.1823_1824insT (p.Ser610LeufsTer4)
 gnomAD v4
10g.110812386C>ACA471368100RBM20c.1989C>A (p.Gly663=)
c.1605C>A (p.Gly535=)
c.1824C>A (p.Gly608=)
 gnomAD v4
10g.110812386C>GCA471368101RBM20c.1989C>G (p.Gly663=)
c.1605C>G (p.Gly535=)
c.1824C>G (p.Gly608=)
10g.110812386C>TCA5688657RBM20c.1989C>T (p.Gly663=)
c.1605C>T (p.Gly535=)
c.1824C>T (p.Gly608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812387C>ACA378370765RBM20c.1990C>A (p.Pro664Thr)
c.1606C>A (p.Pro536Thr)
c.1825C>A (p.Pro609Thr)
10g.110812387C>GCA378370768RBM20c.1990C>G (p.Pro664Ala)
c.1606C>G (p.Pro536Ala)
c.1825C>G (p.Pro609Ala)
10g.110812387C>TCA378370770RBM20c.1990C>T (p.Pro664Ser)
c.1606C>T (p.Pro536Ser)
c.1825C>T (p.Pro609Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
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=)

Number of alleles fetched