Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812548A>CCA378372247RBM20c.2151A>C (p.Gln717His)
c.1767A>C (p.Gln589His)
c.1986A>C (p.Gln662His)
10g.110812548A>GCA471507074RBM20c.2151A>G (p.Gln717=)
c.1767A>G (p.Gln589=)
c.1986A>G (p.Gln662=)
10g.110812548A>TCA378372249RBM20c.2151A>T (p.Gln717His)
c.1767A>T (p.Gln589His)
c.1986A>T (p.Gln662His)
10g.110812549C>ACA378372251RBM20c.2152C>A (p.Leu718Met)
c.1768C>A (p.Leu590Met)
c.1987C>A (p.Leu663Met)
10g.110812549C>GCA213223846RBM20c.2152C>G (p.Leu718Val)
c.1768C>G (p.Leu590Val)
c.1987C>G (p.Leu663Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812549C>TCA471507078RBM20c.2152C>T (p.Leu718=)
c.1768C>T (p.Leu590=)
c.1987C>T (p.Leu663=)
10g.110812550T>ACA378372257RBM20c.2153T>A (p.Leu718Gln)
c.1769T>A (p.Leu590Gln)
c.1988T>A (p.Leu663Gln)
10g.110812550T>CCA5688670RBM20c.2153T>C (p.Leu718Pro)
c.1769T>C (p.Leu590Pro)
c.1988T>C (p.Leu663Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812550T>GCA378372263RBM20c.2153T>G (p.Leu718Arg)
c.1769T>G (p.Leu590Arg)
c.1988T>G (p.Leu663Arg)
10g.110812551G>ACA471507081RBM20c.2154G>A (p.Leu718=)
c.1770G>A (p.Leu590=)
c.1989G>A (p.Leu663=)
 gnomAD v4
10g.110812551G>CCA471507083RBM20c.2154G>C (p.Leu718=)
c.1770G>C (p.Leu590=)
c.1989G>C (p.Leu663=)
 gnomAD v4
10g.110812551G>TCA471507085RBM20c.2154G>T (p.Leu718=)
c.1770G>T (p.Leu590=)
c.1989G>T (p.Leu663=)
10g.110812552G>ACA378372269RBM20c.2155G>A (p.Asp719Asn)
c.1771G>A (p.Asp591Asn)
c.1990G>A (p.Asp664Asn)
10g.110812552G>CCA378372266RBM20c.2155G>C (p.Asp719His)
c.1771G>C (p.Asp591His)
c.1990G>C (p.Asp664His)
 dbSNP gnomAD v2 gnomAD v4
10g.110812552G>TCA378372265RBM20c.2155G>T (p.Asp719Tyr)
c.1771G>T (p.Asp591Tyr)
c.1990G>T (p.Asp664Tyr)
10g.110812553A>CCA378372271RBM20c.2156A>C (p.Asp719Ala)
c.1772A>C (p.Asp591Ala)
c.1991A>C (p.Asp664Ala)
10g.110812553A>GCA378372272RBM20c.2156A>G (p.Asp719Gly)
c.1772A>G (p.Asp591Gly)
c.1991A>G (p.Asp664Gly)
10g.110812553A>TCA378372273RBM20c.2156A>T (p.Asp719Val)
c.1772A>T (p.Asp591Val)
c.1991A>T (p.Asp664Val)
10g.110812554C>ACA378372275RBM20c.2157C>A (p.Asp719Glu)
c.1773C>A (p.Asp591Glu)
c.1992C>A (p.Asp664Glu)
10g.110812554C>GCA378372276RBM20c.2157C>G (p.Asp719Glu)
c.1773C>G (p.Asp591Glu)
c.1992C>G (p.Asp664Glu)
10g.110812554C>TCA471507087RBM20c.2157C>T (p.Asp719=)
c.1773C>T (p.Asp591=)
c.1992C>T (p.Asp664=)
10g.110812555A>CCA378372277RBM20c.2158A>C (p.Lys720Gln)
c.1774A>C (p.Lys592Gln)
c.1993A>C (p.Lys665Gln)
10g.110812555A>GCA335557RBM20c.2158A>G (p.Lys720Glu)
c.1774A>G (p.Lys592Glu)
c.1993A>G (p.Lys665Glu)
 ClinVar dbSNP gnomAD v4
10g.110812555A>TCA378372279RBM20c.2158A>T (p.Lys720Ter)
c.1774A>T (p.Lys592Ter)
c.1993A>T (p.Lys665Ter)
10g.110812556A>CCA378372280RBM20c.2159A>C (p.Lys720Thr)
c.1775A>C (p.Lys592Thr)
c.1994A>C (p.Lys665Thr)
10g.110812556A>GCA378372282RBM20c.2159A>G (p.Lys720Arg)
c.1775A>G (p.Lys592Arg)
c.1994A>G (p.Lys665Arg)
10g.110812556A>TCA378372283RBM20c.2159A>T (p.Lys720Met)
c.1775A>T (p.Lys592Met)
c.1994A>T (p.Lys665Met)
10g.110812557G>ACA471507090RBM20c.2160G>A (p.Lys720=)
c.1776G>A (p.Lys592=)
c.1995G>A (p.Lys665=)
10g.110812557G>CCA378372286RBM20c.2160G>C (p.Lys720Asn)
c.1776G>C (p.Lys592Asn)
c.1995G>C (p.Lys665Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.110812557G>TCA378372284RBM20c.2160G>T (p.Lys720Asn)
c.1776G>T (p.Lys592Asn)
c.1995G>T (p.Lys665Asn)
10g.110812558G>ACA378372287RBM20c.2161G>A (p.Ala721Thr)
c.1777G>A (p.Ala593Thr)
c.1996G>A (p.Ala666Thr)
 ClinVar dbSNP gnomAD v4
10g.110812558G>CCA378372288RBM20c.2161G>C (p.Ala721Pro)
c.1777G>C (p.Ala593Pro)
c.1996G>C (p.Ala666Pro)
10g.110812558G>TCA10576769RBM20c.2161G>T (p.Ala721Ser)
c.1777G>T (p.Ala593Ser)
c.1996G>T (p.Ala666Ser)
 ClinVar dbSNP gnomAD v4
10g.110812559C>ACA378372291RBM20c.2162C>A (p.Ala721Asp)
c.1778C>A (p.Ala593Asp)
c.1997C>A (p.Ala666Asp)
10g.110812559C>GCA378372292RBM20c.2162C>G (p.Ala721Gly)
c.1778C>G (p.Ala593Gly)
c.1997C>G (p.Ala666Gly)
10g.110812559C>TCA378372294RBM20c.2162C>T (p.Ala721Val)
c.1778C>T (p.Ala593Val)
c.1997C>T (p.Ala666Val)
10g.110812560T>ACA471507096RBM20c.2163T>A (p.Ala721=)
c.1779T>A (p.Ala593=)
c.1998T>A (p.Ala666=)
10g.110812560T>CCA471507095RBM20c.2163T>C (p.Ala721=)
c.1779T>C (p.Ala593=)
c.1998T>C (p.Ala666=)
10g.110812560T>GCA471507097RBM20c.2163T>G (p.Ala721=)
c.1779T>G (p.Ala593=)
c.1998T>G (p.Ala666=)
10g.110812561G>ACA378372301RBM20c.2164G>A (p.Glu722Lys)
c.1780G>A (p.Glu594Lys)
c.1999G>A (p.Glu667Lys)
10g.110812561G>CCA378372302RBM20c.2164G>C (p.Glu722Gln)
c.1780G>C (p.Glu594Gln)
c.1999G>C (p.Glu667Gln)
10g.110812561G>TCA378372305RBM20c.2164G>T (p.Glu722Ter)
c.1780G>T (p.Glu594Ter)
c.1999G>T (p.Glu667Ter)
 COSMIC
10g.110812562_110812563delCA2610892817RBM20c.2165_2166del (p.Glu722ValfsTer?)
c.1781_1782del (p.Glu594ValfsTer?)
c.2000_2001del (p.Glu667ValfsTer?)
 gnomAD v4
10g.110812564_110812572delCA2610892818RBM20c.2167_2175del (p.Leu723_Glu725del)
c.1783_1791del (p.Leu595_Glu597del)
c.2002_2010del (p.Leu668_Glu670del)
 gnomAD v4
10g.110812562A>CCA378372313RBM20c.2165A>C (p.Glu722Ala)
c.1781A>C (p.Glu594Ala)
c.2000A>C (p.Glu667Ala)
10g.110812562A>GCA378372315RBM20c.2165A>G (p.Glu722Gly)
c.1781A>G (p.Glu594Gly)
c.2000A>G (p.Glu667Gly)
10g.110812562A>TCA378372322RBM20c.2165A>T (p.Glu722Val)
c.1781A>T (p.Glu594Val)
c.2000A>T (p.Glu667Val)
 gnomAD v4
10g.110812563G>ACA471507100RBM20c.2166G>A (p.Glu722=)
c.1782G>A (p.Glu594=)
c.2001G>A (p.Glu667=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812563G>CCA378372327RBM20c.2166G>C (p.Glu722Asp)
c.1782G>C (p.Glu594Asp)
c.2001G>C (p.Glu667Asp)
10g.110812563G>TCA378372325RBM20c.2166G>T (p.Glu722Asp)
c.1782G>T (p.Glu594Asp)
c.2001G>T (p.Glu667Asp)
10g.110812564T>ACA378372330RBM20c.2167T>A (p.Leu723Met)
c.1783T>A (p.Leu595Met)
c.2002T>A (p.Leu668Met)
10g.110812564T>CCA471507104RBM20c.2167T>C (p.Leu723=)
c.1783T>C (p.Leu595=)
c.2002T>C (p.Leu668=)
10g.110812564T>GCA378372331RBM20c.2167T>G (p.Leu723Val)
c.1783T>G (p.Leu595Val)
c.2002T>G (p.Leu668Val)
10g.110812565T>ACA378372334RBM20c.2168T>A (p.Leu723Ter)
c.1784T>A (p.Leu595Ter)
c.2003T>A (p.Leu668Ter)
10g.110812565T>CCA5688671RBM20c.2168T>C (p.Leu723Ser)
c.1784T>C (p.Leu595Ser)
c.2003T>C (p.Leu668Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812565T>GCA378372337RBM20c.2168T>G (p.Leu723Trp)
c.1784T>G (p.Leu595Trp)
c.2003T>G (p.Leu668Trp)
10g.110812566G>ACA471507108RBM20c.2169G>A (p.Leu723=)
c.1785G>A (p.Leu595=)
c.2004G>A (p.Leu668=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812566G>CCA378372343RBM20c.2169G>C (p.Leu723Phe)
c.1785G>C (p.Leu595Phe)
c.2004G>C (p.Leu668Phe)
10g.110812566G>TCA378372345RBM20c.2169G>T (p.Leu723Phe)
c.1785G>T (p.Leu595Phe)
c.2004G>T (p.Leu668Phe)
10g.110812567G>ACA378372347RBM20c.2170G>A (p.Asp724Asn)
c.1786G>A (p.Asp596Asn)
c.2005G>A (p.Asp669Asn)
 gnomAD v4
10g.110812567G>CCA378372350RBM20c.2170G>C (p.Asp724His)
c.1786G>C (p.Asp596His)
c.2005G>C (p.Asp669His)
10g.110812567G>TCA378372351RBM20c.2170G>T (p.Asp724Tyr)
c.1786G>T (p.Asp596Tyr)
c.2005G>T (p.Asp669Tyr)
10g.110812568A>CCA378372353RBM20c.2171A>C (p.Asp724Ala)
c.1787A>C (p.Asp596Ala)
c.2006A>C (p.Asp669Ala)
10g.110812568A>GCA378372355RBM20c.2171A>G (p.Asp724Gly)
c.1787A>G (p.Asp596Gly)
c.2006A>G (p.Asp669Gly)
10g.110812568A>TCA378372357RBM20c.2171A>T (p.Asp724Val)
c.1787A>T (p.Asp596Val)
c.2006A>T (p.Asp669Val)
10g.110812569C>ACA378372363RBM20c.2172C>A (p.Asp724Glu)
c.1788C>A (p.Asp596Glu)
c.2007C>A (p.Asp669Glu)
10g.110812569C>GCA378372366RBM20c.2172C>G (p.Asp724Glu)
c.1788C>G (p.Asp596Glu)
c.2007C>G (p.Asp669Glu)
10g.110812569C>TCA5688672RBM20c.2172C>T (p.Asp724=)
c.1788C>T (p.Asp596=)
c.2007C>T (p.Asp669=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812570G>ACA077326RBM20c.2173G>A (p.Glu725Lys)
c.1789G>A (p.Glu597Lys)
c.2008G>A (p.Glu670Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812570G>CCA378372367RBM20c.2173G>C (p.Glu725Gln)
c.1789G>C (p.Glu597Gln)
c.2008G>C (p.Glu670Gln)
10g.110812570G>TCA378372368RBM20c.2173G>T (p.Glu725Ter)
c.1789G>T (p.Glu597Ter)
c.2008G>T (p.Glu670Ter)
10g.110812571A>CCA213223908RBM20c.2174A>C (p.Glu725Ala)
c.1790A>C (p.Glu597Ala)
c.2009A>C (p.Glu670Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812571A>GCA378372374RBM20c.2174A>G (p.Glu725Gly)
c.1790A>G (p.Glu597Gly)
c.2009A>G (p.Glu670Gly)
10g.110812571A>TCA378372378RBM20c.2174A>T (p.Glu725Val)
c.1790A>T (p.Glu597Val)
c.2009A>T (p.Glu670Val)
10g.110812572G>ACA471507117RBM20c.2175G>A (p.Glu725=)
c.1791G>A (p.Glu597=)
c.2010G>A (p.Glu670=)
10g.110812572G>CCA378372387RBM20c.2175G>C (p.Glu725Asp)
c.1791G>C (p.Glu597Asp)
c.2010G>C (p.Glu670Asp)
10g.110812572G>TCA378372390RBM20c.2175G>T (p.Glu725Asp)
c.1791G>T (p.Glu597Asp)
c.2010G>T (p.Glu670Asp)
10g.110812573C>ACA471507120RBM20c.2176C>A (p.Arg726=)
c.1792C>A (p.Arg598=)
c.2011C>A (p.Arg671=)
 dbSNP gnomAD v4
10g.110812573C>GCA378372391RBM20c.2176C>G (p.Arg726Gly)
c.1792C>G (p.Arg598Gly)
c.2011C>G (p.Arg671Gly)
 ClinVar dbSNP gnomAD v4
10g.110812573C>TCA378372392RBM20c.2176C>T (p.Arg726Ter)
c.1792C>T (p.Arg598Ter)
c.2011C>T (p.Arg671Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812573_110812574insCAGTTGCA2610892819RBM20c.2176_2177insCAGTTG (p.Arg726delinsProValGly)
c.1792_1793insCAGTTG (p.Arg598delinsProValGly)
c.2011_2012insCAGTTG (p.Arg671delinsProValGly)
 gnomAD v4
10g.110812574G>ACA213223915RBM20c.2177G>A (p.Arg726Gln)
c.1793G>A (p.Arg598Gln)
c.2012G>A (p.Arg671Gln)
 ClinVar dbSNP gnomAD v4
10g.110812574G>CCA378372394RBM20c.2177G>C (p.Arg726Pro)
c.1793G>C (p.Arg598Pro)
c.2012G>C (p.Arg671Pro)
10g.110812574G>TCA5688673RBM20c.2177G>T (p.Arg726Leu)
c.1793G>T (p.Arg598Leu)
c.2012G>T (p.Arg671Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812575A>CCA471507124RBM20c.2178A>C (p.Arg726=)
c.1794A>C (p.Arg598=)
c.2013A>C (p.Arg671=)
10g.110812575A>GCA471507121RBM20c.2178A>G (p.Arg726=)
c.1794A>G (p.Arg598=)
c.2013A>G (p.Arg671=)
10g.110812575A>TCA471507122RBM20c.2178A>T (p.Arg726=)
c.1794A>T (p.Arg598=)
c.2013A>T (p.Arg671=)
10g.110812576C>ACA378372401RBM20c.2179C>A (p.Pro727Thr)
c.1795C>A (p.Pro599Thr)
c.2014C>A (p.Pro672Thr)
10g.110812576C>GCA378372399RBM20c.2179C>G (p.Pro727Ala)
c.1795C>G (p.Pro599Ala)
c.2014C>G (p.Pro672Ala)
10g.110812576C>TCA378372400RBM20c.2179C>T (p.Pro727Ser)
c.1795C>T (p.Pro599Ser)
c.2014C>T (p.Pro672Ser)
10g.110812577C>ACA378372402RBM20c.2180C>A (p.Pro727Gln)
c.1796C>A (p.Pro599Gln)
c.2015C>A (p.Pro672Gln)
10g.110812577C>GCA378372405RBM20c.2180C>G (p.Pro727Arg)
c.1796C>G (p.Pro599Arg)
c.2015C>G (p.Pro672Arg)
10g.110812577C>TCA378372406RBM20c.2180C>T (p.Pro727Leu)
c.1796C>T (p.Pro599Leu)
c.2015C>T (p.Pro672Leu)
10g.110812578A>CCA471507130RBM20c.2181A>C (p.Pro727=)
c.1797A>C (p.Pro599=)
c.2016A>C (p.Pro672=)
10g.110812578A>GCA471507131RBM20c.2181A>G (p.Pro727=)
c.1797A>G (p.Pro599=)
c.2016A>G (p.Pro672=)
10g.110812578A>TCA471507133RBM20c.2181A>T (p.Pro727=)
c.1797A>T (p.Pro599=)
c.2016A>T (p.Pro672=)
10g.110812580_110812582delCA10576770RBM20c.2183_2185del (p.Glu728del)
c.1799_1801del (p.Glu600del)
c.2018_2020del (p.Glu673del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812579G>ACA378372413RBM20c.2182G>A (p.Glu728Lys)
c.1798G>A (p.Glu600Lys)
c.2017G>A (p.Glu673Lys)
 ClinVar
10g.110812579G>CCA378372415RBM20c.2182G>C (p.Glu728Gln)
c.1798G>C (p.Glu600Gln)
c.2017G>C (p.Glu673Gln)
 gnomAD v4
10g.110812579G>TCA378372423RBM20c.2182G>T (p.Glu728Ter)
c.1798G>T (p.Glu600Ter)
c.2017G>T (p.Glu673Ter)
 ClinVar dbSNP
10g.110812580A>CCA378372426RBM20c.2183A>C (p.Glu728Ala)
c.1799A>C (p.Glu600Ala)
c.2018A>C (p.Glu673Ala)
10g.110812580A>GCA378372430RBM20c.2183A>G (p.Glu728Gly)
c.1799A>G (p.Glu600Gly)
c.2018A>G (p.Glu673Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812580A>TCA378372432RBM20c.2183A>T (p.Glu728Val)
c.1799A>T (p.Glu600Val)
c.2018A>T (p.Glu673Val)
10g.110812581A>CCA378372435RBM20c.2184A>C (p.Glu728Asp)
c.1800A>C (p.Glu600Asp)
c.2019A>C (p.Glu673Asp)
10g.110812581A>GCA471507140RBM20c.2184A>G (p.Glu728=)
c.1800A>G (p.Glu600=)
c.2019A>G (p.Glu673=)
10g.110812581A>TCA378372437RBM20c.2184A>T (p.Glu728Asp)
c.1800A>T (p.Glu600Asp)
c.2019A>T (p.Glu673Asp)
10g.110812582G>ACA213223935RBM20c.2185G>A (p.Gly729Arg)
c.1801G>A (p.Gly601Arg)
c.2020G>A (p.Gly674Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812582G>CCA378372445RBM20c.2185G>C (p.Gly729Arg)
c.1801G>C (p.Gly601Arg)
c.2020G>C (p.Gly674Arg)
10g.110812582G>TCA378372441RBM20c.2185G>T (p.Gly729Ter)
c.1801G>T (p.Gly601Ter)
c.2020G>T (p.Gly674Ter)
10g.110812583G>ACA378372460RBM20c.2186G>A (p.Gly729Glu)
c.1802G>A (p.Gly601Glu)
c.2021G>A (p.Gly674Glu)
10g.110812583G>CCA378372465RBM20c.2186G>C (p.Gly729Ala)
c.1802G>C (p.Gly601Ala)
c.2021G>C (p.Gly674Ala)
10g.110812583G>TCA378372467RBM20c.2186G>T (p.Gly729Val)
c.1802G>T (p.Gly601Val)
c.2021G>T (p.Gly674Val)
 gnomAD v4
10g.110812584A>CCA471507144RBM20c.2187A>C (p.Gly729=)
c.1803A>C (p.Gly601=)
c.2022A>C (p.Gly674=)
10g.110812584A>GCA471507146RBM20c.2187A>G (p.Gly729=)
c.1803A>G (p.Gly601=)
c.2022A>G (p.Gly674=)
10g.110812584A>TCA471507147RBM20c.2187A>T (p.Gly729=)
c.1803A>T (p.Gly601=)
c.2022A>T (p.Gly674=)
10g.110812585G>ACA378372472RBM20c.2188G>A (p.Gly730Arg)
c.1804G>A (p.Gly602Arg)
c.2023G>A (p.Gly675Arg)
 ClinVar dbSNP
10g.110812585G>CCA378372477RBM20c.2188G>C (p.Gly730Arg)
c.1804G>C (p.Gly602Arg)
c.2023G>C (p.Gly675Arg)
 ClinVar dbSNP
10g.110812585G>TCA378372485RBM20c.2188G>T (p.Gly730Trp)
c.1804G>T (p.Gly602Trp)
c.2023G>T (p.Gly675Trp)
10g.110812586G>ACA378372491RBM20c.2189G>A (p.Gly730Glu)
c.1805G>A (p.Gly602Glu)
c.2024G>A (p.Gly675Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812586G>CCA378372494RBM20c.2189G>C (p.Gly730Ala)
c.1805G>C (p.Gly602Ala)
c.2024G>C (p.Gly675Ala)
10g.110812586G>TCA378372498RBM20c.2189G>T (p.Gly730Val)
c.1805G>T (p.Gly602Val)
c.2024G>T (p.Gly675Val)
10g.110812587G>ACA471507152RBM20c.2190G>A (p.Gly730=)
c.1806G>A (p.Gly602=)
c.2025G>A (p.Gly675=)
10g.110812587G>CCA471507154RBM20c.2190G>C (p.Gly730=)
c.1806G>C (p.Gly602=)
c.2025G>C (p.Gly675=)
10g.110812587G>TCA471507155RBM20c.2190G>T (p.Gly730=)
c.1806G>T (p.Gly602=)
c.2025G>T (p.Gly675=)
10g.110812588A>CCA471507157RBM20c.2191A>C (p.Arg731=)
c.1807A>C (p.Arg603=)
c.2026A>C (p.Arg676=)
10g.110812588A>GCA378372503RBM20c.2191A>G (p.Arg731Gly)
c.1807A>G (p.Arg603Gly)
c.2026A>G (p.Arg676Gly)
10g.110812588A>TCA378372506RBM20c.2191A>T (p.Arg731Trp)
c.1807A>T (p.Arg603Trp)
c.2026A>T (p.Arg676Trp)
10g.110812589G>ACA378372510RBM20c.2192G>A (p.Arg731Lys)
c.1808G>A (p.Arg603Lys)
c.2027G>A (p.Arg676Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.110812589G>CCA378372514RBM20c.2192G>C (p.Arg731Thr)
c.1808G>C (p.Arg603Thr)
c.2027G>C (p.Arg676Thr)
10g.110812589G>TCA378372517RBM20c.2192G>T (p.Arg731Met)
c.1808G>T (p.Arg603Met)
c.2027G>T (p.Arg676Met)
10g.110812590G>ACA471507161RBM20c.2193G>A (p.Arg731=)
c.1809G>A (p.Arg603=)
c.2028G>A (p.Arg676=)
 gnomAD v4
10g.110812590G>CCA378372528RBM20c.2193G>C (p.Arg731Ser)
c.1809G>C (p.Arg603Ser)
c.2028G>C (p.Arg676Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812590G>TCA378372531RBM20c.2193G>T (p.Arg731Ser)
c.1809G>T (p.Arg603Ser)
c.2028G>T (p.Arg676Ser)
 dbSNP
10g.110812591C>ACA378372535RBM20c.2194C>A (p.Pro732Thr)
c.1810C>A (p.Pro604Thr)
c.2029C>A (p.Pro677Thr)
 gnomAD v4
10g.110812591C>GCA378372536RBM20c.2194C>G (p.Pro732Ala)
c.1810C>G (p.Pro604Ala)
c.2029C>G (p.Pro677Ala)
10g.110812591C>TCA378372541RBM20c.2194C>T (p.Pro732Ser)
c.1810C>T (p.Pro604Ser)
c.2029C>T (p.Pro677Ser)
10g.110812592C>ACA378372545RBM20c.2195C>A (p.Pro732His)
c.1811C>A (p.Pro604His)
c.2030C>A (p.Pro677His)
10g.110812592C>GCA378372548RBM20c.2195C>G (p.Pro732Arg)
c.1811C>G (p.Pro604Arg)
c.2030C>G (p.Pro677Arg)
10g.110812592C>TCA378372569RBM20c.2195C>T (p.Pro732Leu)
c.1811C>T (p.Pro604Leu)
c.2030C>T (p.Pro677Leu)
10g.110812593C>ACA471507173RBM20c.2196C>A (p.Pro732=)
c.1812C>A (p.Pro604=)
c.2031C>A (p.Pro677=)
10g.110812593C>GCA471507176RBM20c.2196C>G (p.Pro732=)
c.1812C>G (p.Pro604=)
c.2031C>G (p.Pro677=)
10g.110812593C>TCA471507177RBM20c.2196C>T (p.Pro732=)
c.1812C>T (p.Pro604=)
c.2031C>T (p.Pro677=)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.110812594C>ACA378372582RBM20c.2197C>A (p.His733Asn)
c.1813C>A (p.His605Asn)
c.2032C>A (p.His678Asn)
10g.110812594C>GCA378372600RBM20c.2197C>G (p.His733Asp)
c.1813C>G (p.His605Asp)
c.2032C>G (p.His678Asp)
10g.110812594C>TCA378372603RBM20c.2197C>T (p.His733Tyr)
c.1813C>T (p.His605Tyr)
c.2032C>T (p.His678Tyr)
 gnomAD v4
10g.110812595A>CCA378372606RBM20c.2198A>C (p.His733Pro)
c.1814A>C (p.His605Pro)
c.2033A>C (p.His678Pro)
10g.110812595A>GCA378372608RBM20c.2198A>G (p.His733Arg)
c.1814A>G (p.His605Arg)
c.2033A>G (p.His678Arg)
10g.110812595A>TCA378372613RBM20c.2198A>T (p.His733Leu)
c.1814A>T (p.His605Leu)
c.2033A>T (p.His678Leu)
10g.110812596C>ACA378372618RBM20c.2199C>A (p.His733Gln)
c.1815C>A (p.His605Gln)
c.2034C>A (p.His678Gln)
10g.110812596C>GCA378372619RBM20c.2199C>G (p.His733Gln)
c.1815C>G (p.His605Gln)
c.2034C>G (p.His678Gln)
10g.110812596C>TCA471507181RBM20c.2199C>T (p.His733=)
c.1815C>T (p.His605=)
c.2034C>T (p.His678=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.110812597C>ACA471507182RBM20c.2200C>A (p.Arg734=)
c.1816C>A (p.Arg606=)
c.2035C>A (p.Arg679=)
10g.110812597C>GCA378372622RBM20c.2200C>G (p.Arg734Gly)
c.1816C>G (p.Arg606Gly)
c.2035C>G (p.Arg679Gly)
10g.110812597C>TCA10634587RBM20c.2200C>T (p.Arg734Trp)
c.1816C>T (p.Arg606Trp)
c.2035C>T (p.Arg679Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812598G>ACA181428RBM20c.2201G>A (p.Arg734Gln)
c.1817G>A (p.Arg606Gln)
c.2036G>A (p.Arg679Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812598G>CCA378372627RBM20c.2201G>C (p.Arg734Pro)
c.1817G>C (p.Arg606Pro)
c.2036G>C (p.Arg679Pro)
 ClinVar dbSNP gnomAD v4
10g.110812598G>TCA378372624RBM20c.2201G>T (p.Arg734Leu)
c.1817G>T (p.Arg606Leu)
c.2036G>T (p.Arg679Leu)
10g.110812599G>ACA471507186RBM20c.2202G>A (p.Arg734=)
c.1818G>A (p.Arg606=)
c.2037G>A (p.Arg679=)
10g.110812599G>CCA471507187RBM20c.2202G>C (p.Arg734=)
c.1818G>C (p.Arg606=)
c.2037G>C (p.Arg679=)
10g.110812599G>TCA471507188RBM20c.2202G>T (p.Arg734=)
c.1818G>T (p.Arg606=)
c.2037G>T (p.Arg679=)
10g.110812600G>ACA378372630RBM20c.2203G>A (p.Glu735Lys)
c.1819G>A (p.Glu607Lys)
c.2038G>A (p.Glu680Lys)
 gnomAD v4
10g.110812600G>CCA378372636RBM20c.2203G>C (p.Glu735Gln)
c.1819G>C (p.Glu607Gln)
c.2038G>C (p.Glu680Gln)
10g.110812600G>TCA378372634RBM20c.2203G>T (p.Glu735Ter)
c.1819G>T (p.Glu607Ter)
c.2038G>T (p.Glu680Ter)
10g.110812601A>CCA378372641RBM20c.2204A>C (p.Glu735Ala)
c.1820A>C (p.Glu607Ala)
c.2039A>C (p.Glu680Ala)
10g.110812601A>GCA378372648RBM20c.2204A>G (p.Glu735Gly)
c.1820A>G (p.Glu607Gly)
c.2039A>G (p.Glu680Gly)
 gnomAD v4
10g.110812601A>TCA378372645RBM20c.2204A>T (p.Glu735Val)
c.1820A>T (p.Glu607Val)
c.2039A>T (p.Glu680Val)
10g.110812602G>ACA471507195RBM20c.2205G>A (p.Glu735=)
c.1821G>A (p.Glu607=)
c.2040G>A (p.Glu680=)
 ClinVar dbSNP
10g.110812602G>CCA378372652RBM20c.2205G>C (p.Glu735Asp)
c.1821G>C (p.Glu607Asp)
c.2040G>C (p.Glu680Asp)
10g.110812602G>TCA378372653RBM20c.2205G>T (p.Glu735Asp)
c.1821G>T (p.Glu607Asp)
c.2040G>T (p.Glu680Asp)
10g.110812603A>CCA378372654RBM20c.2206A>C (p.Lys736Gln)
c.1822A>C (p.Lys608Gln)
c.2041A>C (p.Lys681Gln)
10g.110812603A>GCA378372655RBM20c.2206A>G (p.Lys736Glu)
c.1822A>G (p.Lys608Glu)
c.2041A>G (p.Lys681Glu)
10g.110812603A>TCA378372656RBM20c.2206A>T (p.Lys736Ter)
c.1822A>T (p.Lys608Ter)
c.2041A>T (p.Lys681Ter)
10g.110812604A>CCA378372659RBM20c.2207A>C (p.Lys736Thr)
c.1823A>C (p.Lys608Thr)
c.2042A>C (p.Lys681Thr)
 ClinVar
10g.110812604A>GCA378372672RBM20c.2207A>G (p.Lys736Arg)
c.1823A>G (p.Lys608Arg)
c.2042A>G (p.Lys681Arg)
10g.110812604A>TCA378372675RBM20c.2207A>T (p.Lys736Met)
c.1823A>T (p.Lys608Met)
c.2042A>T (p.Lys681Met)
10g.110812605G>ACA471507202RBM20c.2208G>A (p.Lys736=)
c.1824G>A (p.Lys608=)
c.2043G>A (p.Lys681=)
 ClinVar dbSNP
10g.110812605G>CCA378372679RBM20c.2208G>C (p.Lys736Asn)
c.1824G>C (p.Lys608Asn)
c.2043G>C (p.Lys681Asn)
10g.110812605G>TCA378372687RBM20c.2208G>T (p.Lys736Asn)
c.1824G>T (p.Lys608Asn)
c.2043G>T (p.Lys681Asn)
10g.110812606T>ACA378372697RBM20c.2209T>A (p.Tyr737Asn)
c.1825T>A (p.Tyr609Asn)
c.2044T>A (p.Tyr682Asn)
10g.110812606T>CCA378372692RBM20c.2209T>C (p.Tyr737His)
c.1825T>C (p.Tyr609His)
c.2044T>C (p.Tyr682His)
10g.110812606T>GCA378372690RBM20c.2209T>G (p.Tyr737Asp)
c.1825T>G (p.Tyr609Asp)
c.2044T>G (p.Tyr682Asp)
10g.110812607A>CCA378372701RBM20c.2210A>C (p.Tyr737Ser)
c.1826A>C (p.Tyr609Ser)
c.2045A>C (p.Tyr682Ser)
 dbSNP
10g.110812607A>GCA378372702RBM20c.2210A>G (p.Tyr737Cys)
c.1826A>G (p.Tyr609Cys)
c.2045A>G (p.Tyr682Cys)
10g.110812607A>TCA378372703RBM20c.2210A>T (p.Tyr737Phe)
c.1826A>T (p.Tyr609Phe)
c.2045A>T (p.Tyr682Phe)
10g.110812608C>ACA378372704RBM20c.2211C>A (p.Tyr737Ter)
c.1827C>A (p.Tyr609Ter)
c.2046C>A (p.Tyr682Ter)
10g.110812608C>GCA378372705RBM20c.2211C>G (p.Tyr737Ter)
c.1827C>G (p.Tyr609Ter)
c.2046C>G (p.Tyr682Ter)
 gnomAD v4
10g.110812608C>TCA471507207RBM20c.2211C>T (p.Tyr737=)
c.1827C>T (p.Tyr609=)
c.2046C>T (p.Tyr682=)
10g.110812609C>ACA378372708RBM20c.2212C>A (p.Pro738Thr)
c.1828C>A (p.Pro610Thr)
c.2047C>A (p.Pro683Thr)
10g.110812609C>GCA378372710RBM20c.2212C>G (p.Pro738Ala)
c.1828C>G (p.Pro610Ala)
c.2047C>G (p.Pro683Ala)
10g.110812609C>TCA378372713RBM20c.2212C>T (p.Pro738Ser)
c.1828C>T (p.Pro610Ser)
c.2047C>T (p.Pro683Ser)
10g.110812610C>ACA378372718RBM20c.2213C>A (p.Pro738Gln)
c.1829C>A (p.Pro610Gln)
c.2048C>A (p.Pro683Gln)
 gnomAD v4 COSMIC
10g.110812610C>GCA378372733RBM20c.2213C>G (p.Pro738Arg)
c.1829C>G (p.Pro610Arg)
c.2048C>G (p.Pro683Arg)
 ClinVar dbSNP gnomAD v4
10g.110812610C>TCA133307RBM20c.2213C>T (p.Pro738Leu)
c.1829C>T (p.Pro610Leu)
c.2048C>T (p.Pro683Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812611G>ACA16606623RBM20c.2214G>A (p.Pro738=)
c.1830G>A (p.Pro610=)
c.2049G>A (p.Pro683=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812611G>CCA471507211RBM20c.2214G>C (p.Pro738=)
c.1830G>C (p.Pro610=)
c.2049G>C (p.Pro683=)
10g.110812611G>TCA471507212RBM20c.2214G>T (p.Pro738=)
c.1830G>T (p.Pro610=)
c.2049G>T (p.Pro683=)
 ClinVar dbSNP
10g.110812612A>CCA471507214RBM20c.2215A>C (p.Arg739=)
c.1831A>C (p.Arg611=)
c.2050A>C (p.Arg684=)
10g.110812612A>GCA378372741RBM20c.2215A>G (p.Arg739Gly)
c.1831A>G (p.Arg611Gly)
c.2050A>G (p.Arg684Gly)
10g.110812612A>TCA378372745RBM20c.2215A>T (p.Arg739Ter)
c.1831A>T (p.Arg611Ter)
c.2050A>T (p.Arg684Ter)
10g.110812613G>ACA378372753RBM20c.2216G>A (p.Arg739Lys)
c.1832G>A (p.Arg611Lys)
c.2051G>A (p.Arg684Lys)
 gnomAD v4
10g.110812613G>CCA378372755RBM20c.2216G>C (p.Arg739Thr)
c.1832G>C (p.Arg611Thr)
c.2051G>C (p.Arg684Thr)
10g.110812613G>TCA378372759RBM20c.2216G>T (p.Arg739Ile)
c.1832G>T (p.Arg611Ile)
c.2051G>T (p.Arg684Ile)
 ClinVar gnomAD v4
10g.110812614A>CCA378372763RBM20c.2217A>C (p.Arg739Ser)
c.1833A>C (p.Arg611Ser)
c.2052A>C (p.Arg684Ser)
10g.110812614A>GCA471507220RBM20c.2217A>G (p.Arg739=)
c.1833A>G (p.Arg611=)
c.2052A>G (p.Arg684=)
10g.110812614A>TCA378372766RBM20c.2217A>T (p.Arg739Ser)
c.1833A>T (p.Arg611Ser)
c.2052A>T (p.Arg684Ser)
10g.110812615T>ACA378372767RBM20c.2218T>A (p.Ser740Thr)
c.1834T>A (p.Ser612Thr)
c.2053T>A (p.Ser685Thr)
10g.110812615T>CCA378372768RBM20c.2218T>C (p.Ser740Pro)
c.1834T>C (p.Ser612Pro)
c.2053T>C (p.Ser685Pro)
10g.110812615T>GCA378372769RBM20c.2218T>G (p.Ser740Ala)
c.1834T>G (p.Ser612Ala)
c.2053T>G (p.Ser685Ala)
10g.110812616C>ACA378372770RBM20c.2219C>A (p.Ser740Tyr)
c.1835C>A (p.Ser612Tyr)
c.2054C>A (p.Ser685Tyr)
10g.110812616C>GCA378372773RBM20c.2219C>G (p.Ser740Cys)
c.1835C>G (p.Ser612Cys)
c.2054C>G (p.Ser685Cys)
10g.110812616C>TCA346599RBM20c.2219C>T (p.Ser740Phe)
c.1835C>T (p.Ser612Phe)
c.2054C>T (p.Ser685Phe)
 ClinVar dbSNP gnomAD v4
10g.110812617T>ACA471507224RBM20c.2220T>A (p.Ser740=)
c.1836T>A (p.Ser612=)
c.2055T>A (p.Ser685=)
10g.110812617T>CCA471507225RBM20c.2220T>C (p.Ser740=)
c.1836T>C (p.Ser612=)
c.2055T>C (p.Ser685=)
10g.110812617T>GCA471507226RBM20c.2220T>G (p.Ser740=)
c.1836T>G (p.Ser612=)
c.2055T>G (p.Ser685=)
10g.110812618G>ACA378372786RBM20c.2221G>A (p.Gly741Arg)
c.1837G>A (p.Gly613Arg)
c.2056G>A (p.Gly686Arg)
 dbSNP
10g.110812618G>CCA378372783RBM20c.2221G>C (p.Gly741Arg)
c.1837G>C (p.Gly613Arg)
c.2056G>C (p.Gly686Arg)
10g.110812618G>TCA378372779RBM20c.2221G>T (p.Gly741Trp)
c.1837G>T (p.Gly613Trp)
c.2056G>T (p.Gly686Trp)
10g.110812619G>ACA378372792RBM20c.2222G>A (p.Gly741Glu)
c.1838G>A (p.Gly613Glu)
c.2057G>A (p.Gly686Glu)
10g.110812619G>CCA378372796RBM20c.2222G>C (p.Gly741Ala)
c.1838G>C (p.Gly613Ala)
c.2057G>C (p.Gly686Ala)
 gnomAD v4
10g.110812619G>TCA378372798RBM20c.2222G>T (p.Gly741Val)
c.1838G>T (p.Gly613Val)
c.2057G>T (p.Gly686Val)
10g.110812620G>ACA471507232RBM20c.2223G>A (p.Gly741=)
c.1839G>A (p.Gly613=)
c.2058G>A (p.Gly686=)
10g.110812620G>CCA471507234RBM20c.2223G>C (p.Gly741=)
c.1839G>C (p.Gly613=)
c.2058G>C (p.Gly686=)
10g.110812620G>TCA471507235RBM20c.2223G>T (p.Gly741=)
c.1839G>T (p.Gly613=)
c.2058G>T (p.Gly686=)
 ClinVar dbSNP
10g.110812621T>ACA378372803RBM20c.2224T>A (p.Ser742Thr)
c.1840T>A (p.Ser614Thr)
c.2059T>A (p.Ser687Thr)
10g.110812621T>CCA378372807RBM20c.2224T>C (p.Ser742Pro)
c.1840T>C (p.Ser614Pro)
c.2059T>C (p.Ser687Pro)
10g.110812621T>GCA378372810RBM20c.2224T>G (p.Ser742Ala)
c.1840T>G (p.Ser614Ala)
c.2059T>G (p.Ser687Ala)
10g.110812622C>ACA378372815RBM20c.2225C>A (p.Ser742Tyr)
c.1841C>A (p.Ser614Tyr)
c.2060C>A (p.Ser687Tyr)
10g.110812622C>GCA213223986RBM20c.2225C>G (p.Ser742Cys)
c.1841C>G (p.Ser614Cys)
c.2060C>G (p.Ser687Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812622C>TCA378372826RBM20c.2225C>T (p.Ser742Phe)
c.1841C>T (p.Ser614Phe)
c.2060C>T (p.Ser687Phe)
10g.110812623T>ACA471507238RBM20c.2226T>A (p.Ser742=)
c.1842T>A (p.Ser614=)
c.2061T>A (p.Ser687=)
10g.110812623T>CCA471507239RBM20c.2226T>C (p.Ser742=)
c.1842T>C (p.Ser614=)
c.2061T>C (p.Ser687=)
 gnomAD v4
10g.110812623T>GCA471507237RBM20c.2226T>G (p.Ser742=)
c.1842T>G (p.Ser614=)
c.2061T>G (p.Ser687=)
10g.110812624C>ACA378372827RBM20c.2227C>A (p.Pro743Thr)
c.1843C>A (p.Pro615Thr)
c.2062C>A (p.Pro688Thr)
10g.110812624C>GCA378372828RBM20c.2227C>G (p.Pro743Ala)
c.1843C>G (p.Pro615Ala)
c.2062C>G (p.Pro688Ala)
10g.110812624C>TCA378372829RBM20c.2227C>T (p.Pro743Ser)
c.1843C>T (p.Pro615Ser)
c.2062C>T (p.Pro688Ser)
10g.110812626delCA2610892820RBM20c.2229del (p.Asn744ThrfsTer29)
c.1845del (p.Asn616ThrfsTer29)
c.2064del (p.Asn689ThrfsTer29)
 gnomAD v4
10g.110812625C>ACA378372834RBM20c.2228C>A (p.Pro743His)
c.1844C>A (p.Pro615His)
c.2063C>A (p.Pro688His)
10g.110812625C>GCA378372837RBM20c.2228C>G (p.Pro743Arg)
c.1844C>G (p.Pro615Arg)
c.2063C>G (p.Pro688Arg)
10g.110812625C>TCA378372832RBM20c.2228C>T (p.Pro743Leu)
c.1844C>T (p.Pro615Leu)
c.2063C>T (p.Pro688Leu)
10g.110812626C>ACA471507243RBM20c.2229C>A (p.Pro743=)
c.1845C>A (p.Pro615=)
c.2064C>A (p.Pro688=)
 ClinVar dbSNP
10g.110812626C>GCA16612930RBM20c.2229C>G (p.Pro743=)
c.1845C>G (p.Pro615=)
c.2064C>G (p.Pro688=)
 ClinVar dbSNP gnomAD v4
10g.110812626C>TCA471507242RBM20c.2229C>T (p.Pro743=)
c.1845C>T (p.Pro615=)
c.2064C>T (p.Pro688=)
10g.110812627A>CCA378372848RBM20c.2230A>C (p.Asn744His)
c.1846A>C (p.Asn616His)
c.2065A>C (p.Asn689His)
10g.110812627A>GCA378372842RBM20c.2230A>G (p.Asn744Asp)
c.1846A>G (p.Asn616Asp)
c.2065A>G (p.Asn689Asp)
10g.110812627A>TCA378372845RBM20c.2230A>T (p.Asn744Tyr)
c.1846A>T (p.Asn616Tyr)
c.2065A>T (p.Asn689Tyr)
10g.110812628A>CCA378372852RBM20c.2231A>C (p.Asn744Thr)
c.1847A>C (p.Asn616Thr)
c.2066A>C (p.Asn689Thr)
10g.110812628A>GCA5688674RBM20c.2231A>G (p.Asn744Ser)
c.1847A>G (p.Asn616Ser)
c.2066A>G (p.Asn689Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812628A>TCA335518RBM20c.2231A>T (p.Asn744Ile)
c.1847A>T (p.Asn616Ile)
c.2066A>T (p.Asn689Ile)
 ClinVar dbSNP
10g.110812629C>ACA378372859RBM20c.2232C>A (p.Asn744Lys)
c.1848C>A (p.Asn616Lys)
c.2067C>A (p.Asn689Lys)
10g.110812629C>GCA378372861RBM20c.2232C>G (p.Asn744Lys)
c.1848C>G (p.Asn616Lys)
c.2067C>G (p.Asn689Lys)
10g.110812629C>TCA213224023RBM20c.2232C>T (p.Asn744=)
c.1848C>T (p.Asn616=)
c.2067C>T (p.Asn689=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812630C>ACA378372865RBM20c.2233C>A (p.Leu745Met)
c.1849C>A (p.Leu617Met)
c.2068C>A (p.Leu690Met)
 gnomAD v4
10g.110812630C>GCA378372868RBM20c.2233C>G (p.Leu745Val)
c.1849C>G (p.Leu617Val)
c.2068C>G (p.Leu690Val)
 gnomAD v4
10g.110812630C>TCA471507245RBM20c.2233C>T (p.Leu745=)
c.1849C>T (p.Leu617=)
c.2068C>T (p.Leu690=)
10g.110812631T>ACA378372873RBM20c.2234T>A (p.Leu745Gln)
c.1850T>A (p.Leu617Gln)
c.2069T>A (p.Leu690Gln)
10g.110812631T>CCA378372875RBM20c.2234T>C (p.Leu745Pro)
c.1850T>C (p.Leu617Pro)
c.2069T>C (p.Leu690Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812631T>GCA378372877RBM20c.2234T>G (p.Leu745Arg)
c.1850T>G (p.Leu617Arg)
c.2069T>G (p.Leu690Arg)
10g.110812632G>ACA471507248RBM20c.2235G>A (p.Leu745=)
c.1851G>A (p.Leu617=)
c.2070G>A (p.Leu690=)
10g.110812632G>CCA471507249RBM20c.2235G>C (p.Leu745=)
c.1851G>C (p.Leu617=)
c.2070G>C (p.Leu690=)
10g.110812632G>TCA471507250RBM20c.2235G>T (p.Leu745=)
c.1851G>T (p.Leu617=)
c.2070G>T (p.Leu690=)
10g.110812633C>ACA378372895RBM20c.2236C>A (p.Pro746Thr)
c.1852C>A (p.Pro618Thr)
c.2071C>A (p.Pro691Thr)
10g.110812633C>GCA378372889RBM20c.2236C>G (p.Pro746Ala)
c.1852C>G (p.Pro618Ala)
c.2071C>G (p.Pro691Ala)
10g.110812633C>TCA378372892RBM20c.2236C>T (p.Pro746Ser)
c.1852C>T (p.Pro618Ser)
c.2071C>T (p.Pro691Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.110812634C>ACA378372900RBM20c.2237C>A (p.Pro746His)
c.1853C>A (p.Pro618His)
c.2072C>A (p.Pro691His)
10g.110812634C>GCA378372905RBM20c.2237C>G (p.Pro746Arg)
c.1853C>G (p.Pro618Arg)
c.2072C>G (p.Pro691Arg)
10g.110812634C>TCA378372907RBM20c.2237C>T (p.Pro746Leu)
c.1853C>T (p.Pro618Leu)
c.2072C>T (p.Pro691Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812635C>ACA471507256RBM20c.2238C>A (p.Pro746=)
c.1854C>A (p.Pro618=)
c.2073C>A (p.Pro691=)
10g.110812635C>GCA471507257RBM20c.2238C>G (p.Pro746=)
c.1854C>G (p.Pro618=)
c.2073C>G (p.Pro691=)
10g.110812635C>TCA471507258RBM20c.2238C>T (p.Pro746=)
c.1854C>T (p.Pro618=)
c.2073C>T (p.Pro691=)
 gnomAD v4
10g.110812636C>ACA378372920RBM20c.2239C>A (p.His747Asn)
c.1855C>A (p.His619Asn)
c.2074C>A (p.His692Asn)
10g.110812636C>GCA378372928RBM20c.2239C>G (p.His747Asp)
c.1855C>G (p.His619Asp)
c.2074C>G (p.His692Asp)
 ClinVar dbSNP
10g.110812636C>TCA5688675RBM20c.2239C>T (p.His747Tyr)
c.1855C>T (p.His619Tyr)
c.2074C>T (p.His692Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812637A>CCA378372932RBM20c.2240A>C (p.His747Pro)
c.1856A>C (p.His619Pro)
c.2075A>C (p.His692Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.110812637A>GCA378372934RBM20c.2240A>G (p.His747Arg)
c.1856A>G (p.His619Arg)
c.2075A>G (p.His692Arg)
 dbSNP gnomAD v3
10g.110812637A>TCA378372938RBM20c.2240A>T (p.His747Leu)
c.1856A>T (p.His619Leu)
c.2075A>T (p.His692Leu)
10g.110812638C>ACA378372942RBM20c.2241C>A (p.His747Gln)
c.1857C>A (p.His619Gln)
c.2076C>A (p.His692Gln)
10g.110812638C>GCA378372944RBM20c.2241C>G (p.His747Gln)
c.1857C>G (p.His619Gln)
c.2076C>G (p.His692Gln)
10g.110812638C>TCA471507264RBM20c.2241C>T (p.His747=)
c.1857C>T (p.His619=)
c.2076C>T (p.His692=)
 ClinVar dbSNP gnomAD v4
10g.110812639T>ACA378372950RBM20c.2242T>A (p.Ser748Thr)
c.1858T>A (p.Ser620Thr)
c.2077T>A (p.Ser693Thr)
10g.110812639T>CCA378372953RBM20c.2242T>C (p.Ser748Pro)
c.1858T>C (p.Ser620Pro)
c.2077T>C (p.Ser693Pro)
 ClinVar dbSNP
10g.110812639T>GCA378372949RBM20c.2242T>G (p.Ser748Ala)
c.1858T>G (p.Ser620Ala)
c.2077T>G (p.Ser693Ala)
10g.110812640C>ACA378372956RBM20c.2243C>A (p.Ser748Tyr)
c.1859C>A (p.Ser620Tyr)
c.2078C>A (p.Ser693Tyr)
 gnomAD v4
10g.110812640C>GCA378372959RBM20c.2243C>G (p.Ser748Cys)
c.1859C>G (p.Ser620Cys)
c.2078C>G (p.Ser693Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.110812640C>TCA378372961RBM20c.2243C>T (p.Ser748Phe)
c.1859C>T (p.Ser620Phe)
c.2078C>T (p.Ser693Phe)
 gnomAD v4
10g.110812641T>ACA471507268RBM20c.2244T>A (p.Ser748=)
c.1860T>A (p.Ser620=)
c.2079T>A (p.Ser693=)
10g.110812641T>CCA471507270RBM20c.2244T>C (p.Ser748=)
c.1860T>C (p.Ser620=)
c.2079T>C (p.Ser693=)
 gnomAD v4
10g.110812641T>GCA177698RBM20c.2244T>G (p.Ser748=)
c.1860T>G (p.Ser620=)
c.2079T>G (p.Ser693=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812644_110812645delCA596112275RBM20c.2247_2248del (p.Ser750GlnfsTer6)
c.1863_1864del (p.Ser622GlnfsTer6)
c.2082_2083del (p.Ser695GlnfsTer6)
 dbSNP gnomAD v2 gnomAD v4
10g.110812642G>ACA378372968RBM20c.2245G>A (p.Val749Met)
c.1861G>A (p.Val621Met)
c.2080G>A (p.Val694Met)
10g.110812642G>CCA378372970RBM20c.2245G>C (p.Val749Leu)
c.1861G>C (p.Val621Leu)
c.2080G>C (p.Val694Leu)
10g.110812642G>TCA213224053RBM20c.2245G>T (p.Val749Leu)
c.1861G>T (p.Val621Leu)
c.2080G>T (p.Val694Leu)
 dbSNP
10g.110812643delCA2610892821RBM20c.2246del (p.Val749GlyfsTer24)
c.1862del (p.Val621GlyfsTer24)
c.2081del (p.Val694GlyfsTer24)
 gnomAD v4
10g.110812643T>ACA378372975RBM20c.2246T>A (p.Val749Glu)
c.1862T>A (p.Val621Glu)
c.2081T>A (p.Val694Glu)
10g.110812643T>CCA378372976RBM20c.2246T>C (p.Val749Ala)
c.1862T>C (p.Val621Ala)
c.2081T>C (p.Val694Ala)
10g.110812643T>GCA378372977RBM20c.2246T>G (p.Val749Gly)
c.1862T>G (p.Val621Gly)
c.2081T>G (p.Val694Gly)
10g.110812644G>ACA471507275RBM20c.2247G>A (p.Val749=)
c.1863G>A (p.Val621=)
c.2082G>A (p.Val694=)
 gnomAD v4
10g.110812644G>CCA471507277RBM20c.2247G>C (p.Val749=)
c.1863G>C (p.Val621=)
c.2082G>C (p.Val694=)
10g.110812644G>TCA471507274RBM20c.2247G>T (p.Val749=)
c.1863G>T (p.Val621=)
c.2082G>T (p.Val694=)
10g.110812645T>ACA378372978RBM20c.2248T>A (p.Ser750Thr)
c.1864T>A (p.Ser622Thr)
c.2083T>A (p.Ser695Thr)
10g.110812645T>CCA378372979RBM20c.2248T>C (p.Ser750Pro)
c.1864T>C (p.Ser622Pro)
c.2083T>C (p.Ser695Pro)
 gnomAD v4
10g.110812645T>GCA378372981RBM20c.2248T>G (p.Ser750Ala)
c.1864T>G (p.Ser622Ala)
c.2083T>G (p.Ser695Ala)
10g.110812646C>ACA378372988RBM20c.2249C>A (p.Ser750Tyr)
c.1865C>A (p.Ser622Tyr)
c.2084C>A (p.Ser695Tyr)
10g.110812646C>GCA378372987RBM20c.2249C>G (p.Ser750Cys)
c.1865C>G (p.Ser622Cys)
c.2084C>G (p.Ser695Cys)
 dbSNP
10g.110812646C>TCA378372983RBM20c.2249C>T (p.Ser750Phe)
c.1865C>T (p.Ser622Phe)
c.2084C>T (p.Ser695Phe)
10g.110812647C>ACA471507282RBM20c.2250C>A (p.Ser750=)
c.1866C>A (p.Ser622=)
c.2085C>A (p.Ser695=)
10g.110812647C>GCA471507284RBM20c.2250C>G (p.Ser750=)
c.1866C>G (p.Ser622=)
c.2085C>G (p.Ser695=)
10g.110812647C>TCA471507285RBM20c.2250C>T (p.Ser750=)
c.1866C>T (p.Ser622=)
c.2085C>T (p.Ser695=)
 gnomAD v4
10g.110812648A>CCA378372991RBM20c.2251A>C (p.Ser751Arg)
c.1867A>C (p.Ser623Arg)
c.2086A>C (p.Ser696Arg)
10g.110812648A>GCA378372995RBM20c.2251A>G (p.Ser751Gly)
c.1867A>G (p.Ser623Gly)
c.2086A>G (p.Ser696Gly)
 dbSNP
10g.110812648A>TCA378372997RBM20c.2251A>T (p.Ser751Cys)
c.1867A>T (p.Ser623Cys)
c.2086A>T (p.Ser696Cys)

Number of alleles fetched