Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
10g.110812489G>ACA378371568RBM20c.2092G>A (p.Asp698Asn)
c.1708G>A (p.Asp570Asn)
c.1927G>A (p.Asp643Asn)
COSMIC
10g.110812489G>CCA378371570RBM20c.2092G>C (p.Asp698His)
c.1708G>C (p.Asp570His)
c.1927G>C (p.Asp643His)
10g.110812489G>TCA378371573RBM20c.2092G>T (p.Asp698Tyr)
c.1708G>T (p.Asp570Tyr)
c.1927G>T (p.Asp643Tyr)
10g.110812490A>CCA378371576RBM20c.2093A>C (p.Asp698Ala)
c.1709A>C (p.Asp570Ala)
c.1928A>C (p.Asp643Ala)
10g.110812490A>GCA378371575RBM20c.2093A>G (p.Asp698Gly)
c.1709A>G (p.Asp570Gly)
c.1928A>G (p.Asp643Gly)
10g.110812490A>TCA378371574RBM20c.2093A>T (p.Asp698Val)
c.1709A>T (p.Asp570Val)
c.1928A>T (p.Asp643Val)
dbSNP gnomAD v3 gnomAD v4
10g.110812491T>ACA378371580RBM20c.2094T>A (p.Asp698Glu)
c.1710T>A (p.Asp570Glu)
c.1929T>A (p.Asp643Glu)
dbSNP gnomAD v3 gnomAD v4
10g.110812491T>CCA471506935RBM20c.2094T>C (p.Asp698=)
c.1710T>C (p.Asp570=)
c.1929T>C (p.Asp643=)
10g.110812491T>GCA378371584RBM20c.2094T>G (p.Asp698Glu)
c.1710T>G (p.Asp570Glu)
c.1929T>G (p.Asp643Glu)
10g.110812492G>ACA213223780RBM20c.2095G>A (p.Asp699Asn)
c.1711G>A (p.Asp571Asn)
c.1930G>A (p.Asp644Asn)
dbSNP
10g.110812492G>CCA378371600RBM20c.2095G>C (p.Asp699His)
c.1711G>C (p.Asp571His)
c.1930G>C (p.Asp644His)
10g.110812492G>TCA378371597RBM20c.2095G>T (p.Asp699Tyr)
c.1711G>T (p.Asp571Tyr)
c.1930G>T (p.Asp644Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812493A>CCA378371610RBM20c.2096A>C (p.Asp699Ala)
c.1712A>C (p.Asp571Ala)
c.1931A>C (p.Asp644Ala)
10g.110812493A>GCA378371614RBM20c.2096A>G (p.Asp699Gly)
c.1712A>G (p.Asp571Gly)
c.1931A>G (p.Asp644Gly)
dbSNP gnomAD v2 gnomAD v4
10g.110812493A>TCA378371613RBM20c.2096A>T (p.Asp699Val)
c.1712A>T (p.Asp571Val)
c.1931A>T (p.Asp644Val)
10g.110812494C>ACA378371618RBM20c.2097C>A (p.Asp699Glu)
c.1713C>A (p.Asp571Glu)
c.1932C>A (p.Asp644Glu)
10g.110812494C>GCA378371647RBM20c.2097C>G (p.Asp699Glu)
c.1713C>G (p.Asp571Glu)
c.1932C>G (p.Asp644Glu)
10g.110812494C>TCA5688667RBM20c.2097C>T (p.Asp699=)
c.1713C>T (p.Asp571=)
c.1932C>T (p.Asp644=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812495A>CCA378371652RBM20c.2098A>C (p.Lys700Gln)
c.1714A>C (p.Lys572Gln)
c.1933A>C (p.Lys645Gln)
10g.110812495A>GCA378371660RBM20c.2098A>G (p.Lys700Glu)
c.1714A>G (p.Lys572Glu)
c.1933A>G (p.Lys645Glu)
10g.110812495A>TCA378371657RBM20c.2098A>T (p.Lys700Ter)
c.1714A>T (p.Lys572Ter)
c.1933A>T (p.Lys645Ter)
10g.110812495_110812496delCA2610892816RBM20c.2098_2099del (p.Lys700GlufsTer10)
c.1714_1715del (p.Lys572GlufsTer10)
c.1933_1934del (p.Lys645GlufsTer10)
gnomAD v4
10g.110812496A>CCA378371677RBM20c.2099A>C (p.Lys700Thr)
c.1715A>C (p.Lys572Thr)
c.1934A>C (p.Lys645Thr)
10g.110812496A>GCA378371693RBM20c.2099A>G (p.Lys700Arg)
c.1715A>G (p.Lys572Arg)
c.1934A>G (p.Lys645Arg)
dbSNP gnomAD v3 gnomAD v4
10g.110812496A>TCA378371685RBM20c.2099A>T (p.Lys700Met)
c.1715A>T (p.Lys572Met)
c.1934A>T (p.Lys645Met)
10g.110812497G>ACA471506949RBM20c.2100G>A (p.Lys700=)
c.1716G>A (p.Lys572=)
c.1935G>A (p.Lys645=)
ClinVar
10g.110812497G>CCA213223783RBM20c.2100G>C (p.Lys700Asn)
c.1716G>C (p.Lys572Asn)
c.1935G>C (p.Lys645Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812497G>TCA378371698RBM20c.2100G>T (p.Lys700Asn)
c.1716G>T (p.Lys572Asn)
c.1935G>T (p.Lys645Asn)
10g.110812498A>CCA471506953RBM20c.2101A>C (p.Arg701=)
c.1717A>C (p.Arg573=)
c.1936A>C (p.Arg646=)
10g.110812498A>GCA378371704RBM20c.2101A>G (p.Arg701Gly)
c.1717A>G (p.Arg573Gly)
c.1936A>G (p.Arg646Gly)
10g.110812498A>TCA378371708RBM20c.2101A>T (p.Arg701Trp)
c.1717A>T (p.Arg573Trp)
c.1936A>T (p.Arg646Trp)
10g.110812499G>ACA378371720RBM20c.2102G>A (p.Arg701Lys)
c.1718G>A (p.Arg573Lys)
c.1937G>A (p.Arg646Lys)
ClinVar gnomAD v4
10g.110812499G>CCA378371733RBM20c.2102G>C (p.Arg701Thr)
c.1718G>C (p.Arg573Thr)
c.1937G>C (p.Arg646Thr)
10g.110812499G>TCA378371741RBM20c.2102G>T (p.Arg701Met)
c.1718G>T (p.Arg573Met)
c.1937G>T (p.Arg646Met)
10g.110812500G>ACA471506962RBM20c.2103G>A (p.Arg701=)
c.1719G>A (p.Arg573=)
c.1938G>A (p.Arg646=)
gnomAD v4
10g.110812500G>CCA378371754RBM20c.2103G>C (p.Arg701Ser)
c.1719G>C (p.Arg573Ser)
c.1938G>C (p.Arg646Ser)
10g.110812500G>TCA378371757RBM20c.2103G>T (p.Arg701Ser)
c.1719G>T (p.Arg573Ser)
c.1938G>T (p.Arg646Ser)
10g.110812501G>ACA378371762RBM20c.2104G>A (p.Asp702Asn)
c.1720G>A (p.Asp574Asn)
c.1939G>A (p.Asp647Asn)
10g.110812501G>CCA378371770RBM20c.2104G>C (p.Asp702His)
c.1720G>C (p.Asp574His)
c.1939G>C (p.Asp647His)
10g.110812501G>TCA378371773RBM20c.2104G>T (p.Asp702Tyr)
c.1720G>T (p.Asp574Tyr)
c.1939G>T (p.Asp647Tyr)
dbSNP gnomAD v2 gnomAD v4
10g.110812502A>CCA378371777RBM20c.2105A>C (p.Asp702Ala)
c.1721A>C (p.Asp574Ala)
c.1940A>C (p.Asp647Ala)
10g.110812502A>GCA378371784RBM20c.2105A>G (p.Asp702Gly)
c.1721A>G (p.Asp574Gly)
c.1940A>G (p.Asp647Gly)
10g.110812502A>TCA378371780RBM20c.2105A>T (p.Asp702Val)
c.1721A>T (p.Asp574Val)
c.1940A>T (p.Asp647Val)
10g.110812503C>ACA378371786RBM20c.2106C>A (p.Asp702Glu)
c.1722C>A (p.Asp574Glu)
c.1941C>A (p.Asp647Glu)
10g.110812503C>GCA378371787RBM20c.2106C>G (p.Asp702Glu)
c.1722C>G (p.Asp574Glu)
c.1941C>G (p.Asp647Glu)
ClinVar
10g.110812503C>TCA471506968RBM20c.2106C>T (p.Asp702=)
c.1722C>T (p.Asp574=)
c.1941C>T (p.Asp647=)
10g.110812504A>CCA471506969RBM20c.2107A>C (p.Arg703=)
c.1723A>C (p.Arg575=)
c.1942A>C (p.Arg648=)
10g.110812504A>GCA213223787RBM20c.2107A>G (p.Arg703Gly)
c.1723A>G (p.Arg575Gly)
c.1942A>G (p.Arg648Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812504A>TCA378371795RBM20c.2107A>T (p.Arg703Trp)
c.1723A>T (p.Arg575Trp)
c.1942A>T (p.Arg648Trp)
10g.110812505G>ACA133301RBM20c.2108G>A (p.Arg703Lys)
c.1724G>A (p.Arg575Lys)
c.1943G>A (p.Arg648Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812505G>CCA378371803RBM20c.2108G>C (p.Arg703Thr)
c.1724G>C (p.Arg575Thr)
c.1943G>C (p.Arg648Thr)
10g.110812505G>TCA378371810RBM20c.2108G>T (p.Arg703Met)
c.1724G>T (p.Arg575Met)
c.1943G>T (p.Arg648Met)
10g.110812506G>ACA471506977RBM20c.2109G>A (p.Arg703=)
c.1725G>A (p.Arg575=)
c.1944G>A (p.Arg648=)
10g.110812506G>CCA213223788RBM20c.2109G>C (p.Arg703Ser)
c.1725G>C (p.Arg575Ser)
c.1944G>C (p.Arg648Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812506G>TCA378371819RBM20c.2109G>T (p.Arg703Ser)
c.1725G>T (p.Arg575Ser)
c.1944G>T (p.Arg648Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812507A>CCA378371832RBM20c.2110A>C (p.Met704Leu)
c.1726A>C (p.Met576Leu)
c.1945A>C (p.Met649Leu)
gnomAD v4
10g.110812507A>GCA378371827RBM20c.2110A>G (p.Met704Val)
c.1726A>G (p.Met576Val)
c.1945A>G (p.Met649Val)
dbSNP
10g.110812507A>TCA378371822RBM20c.2110A>T (p.Met704Leu)
c.1726A>T (p.Met576Leu)
c.1945A>T (p.Met649Leu)
gnomAD v4
10g.110812508T>ACA378371835RBM20c.2111T>A (p.Met704Lys)
c.1727T>A (p.Met576Lys)
c.1946T>A (p.Met649Lys)
gnomAD v4
10g.110812508T>CCA378371837RBM20c.2111T>C (p.Met704Thr)
c.1727T>C (p.Met576Thr)
c.1946T>C (p.Met649Thr)
dbSNP
10g.110812508T>GCA378371838RBM20c.2111T>G (p.Met704Arg)
c.1727T>G (p.Met576Arg)
c.1946T>G (p.Met649Arg)
10g.110812509G>ACA378371842RBM20c.2112G>A (p.Met704Ile)
c.1728G>A (p.Met576Ile)
c.1947G>A (p.Met649Ile)
COSMIC
10g.110812509G>CCA378371853RBM20c.2112G>C (p.Met704Ile)
c.1728G>C (p.Met576Ile)
c.1947G>C (p.Met649Ile)
10g.110812509G>TCA378371861RBM20c.2112G>T (p.Met704Ile)
c.1728G>T (p.Met576Ile)
c.1947G>T (p.Met649Ile)
10g.110812510G>ACA213223789RBM20c.2113G>A (p.Asp705Asn)
c.1729G>A (p.Asp577Asn)
c.1948G>A (p.Asp650Asn)
ClinVar dbSNP gnomAD v4
10g.110812510G>CCA378371874RBM20c.2113G>C (p.Asp705His)
c.1729G>C (p.Asp577His)
c.1948G>C (p.Asp650His)
10g.110812510G>TCA378371879RBM20c.2113G>T (p.Asp705Tyr)
c.1729G>T (p.Asp577Tyr)
c.1948G>T (p.Asp650Tyr)
10g.110812511A>CCA378371881RBM20c.2114A>C (p.Asp705Ala)
c.1730A>C (p.Asp577Ala)
c.1949A>C (p.Asp650Ala)
10g.110812511A>GCA378371883RBM20c.2114A>G (p.Asp705Gly)
c.1730A>G (p.Asp577Gly)
c.1949A>G (p.Asp650Gly)
10g.110812511A>TCA378371885RBM20c.2114A>T (p.Asp705Val)
c.1730A>T (p.Asp577Val)
c.1949A>T (p.Asp650Val)
dbSNP
10g.110812512C>ACA378371891RBM20c.2115C>A (p.Asp705Glu)
c.1731C>A (p.Asp577Glu)
c.1950C>A (p.Asp650Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812512C>GCA378371889RBM20c.2115C>G (p.Asp705Glu)
c.1731C>G (p.Asp577Glu)
c.1950C>G (p.Asp650Glu)
10g.110812512C>TCA471506990RBM20c.2115C>T (p.Asp705=)
c.1731C>T (p.Asp577=)
c.1950C>T (p.Asp650=)
10g.110812513C>ACA335516RBM20c.2116C>A (p.Pro706Thr)
c.1732C>A (p.Pro578Thr)
c.1951C>A (p.Pro651Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812513C>GCA378371893RBM20c.2116C>G (p.Pro706Ala)
c.1732C>G (p.Pro578Ala)
c.1951C>G (p.Pro651Ala)
10g.110812513C>TCA378371896RBM20c.2116C>T (p.Pro706Ser)
c.1732C>T (p.Pro578Ser)
c.1951C>T (p.Pro651Ser)
gnomAD v4
10g.110812514C>ACA378371899RBM20c.2117C>A (p.Pro706His)
c.1733C>A (p.Pro578His)
c.1952C>A (p.Pro651His)
10g.110812514C>GCA378371902RBM20c.2117C>G (p.Pro706Arg)
c.1733C>G (p.Pro578Arg)
c.1952C>G (p.Pro651Arg)
dbSNP gnomAD v3 gnomAD v4
10g.110812514C>TCA378371914RBM20c.2117C>T (p.Pro706Leu)
c.1733C>T (p.Pro578Leu)
c.1952C>T (p.Pro651Leu)
10g.110812515C>ACA471506999RBM20c.2118C>A (p.Pro706=)
c.1734C>A (p.Pro578=)
c.1953C>A (p.Pro651=)
10g.110812515C>GCA471507000RBM20c.2118C>G (p.Pro706=)
c.1734C>G (p.Pro578=)
c.1953C>G (p.Pro651=)
10g.110812515C>TCA471507001RBM20c.2118C>T (p.Pro706=)
c.1734C>T (p.Pro578=)
c.1953C>T (p.Pro651=)
ClinVar dbSNP
10g.110812516T>ACA378371941RBM20c.2119T>A (p.Trp707Arg)
c.1735T>A (p.Trp579Arg)
c.1954T>A (p.Trp652Arg)
ClinVar dbSNP gnomAD v4
10g.110812516T>CCA378371945RBM20c.2119T>C (p.Trp707Arg)
c.1735T>C (p.Trp579Arg)
c.1954T>C (p.Trp652Arg)
ClinVar
10g.110812516T>GCA378371946RBM20c.2119T>G (p.Trp707Gly)
c.1735T>G (p.Trp579Gly)
c.1954T>G (p.Trp652Gly)
10g.110812517G>ACA378371947RBM20c.2120G>A (p.Trp707Ter)
c.1736G>A (p.Trp579Ter)
c.1955G>A (p.Trp652Ter)
10g.110812517G>CCA378371951RBM20c.2120G>C (p.Trp707Ser)
c.1736G>C (p.Trp579Ser)
c.1955G>C (p.Trp652Ser)
10g.110812517G>TCA378371955RBM20c.2120G>T (p.Trp707Leu)
c.1736G>T (p.Trp579Leu)
c.1955G>T (p.Trp652Leu)
10g.110812518G>ACA378371969RBM20c.2121G>A (p.Trp707Ter)
c.1737G>A (p.Trp579Ter)
c.1956G>A (p.Trp652Ter)
10g.110812518G>CCA378371967RBM20c.2121G>C (p.Trp707Cys)
c.1737G>C (p.Trp579Cys)
c.1956G>C (p.Trp652Cys)
10g.110812518G>TCA378371960RBM20c.2121G>T (p.Trp707Cys)
c.1737G>T (p.Trp579Cys)
c.1956G>T (p.Trp652Cys)
10g.110812519G>ACA378371972RBM20c.2122G>A (p.Ala708Thr)
c.1738G>A (p.Ala580Thr)
c.1957G>A (p.Ala653Thr)
10g.110812519G>CCA378371993RBM20c.2122G>C (p.Ala708Pro)
c.1738G>C (p.Ala580Pro)
c.1957G>C (p.Ala653Pro)
10g.110812519G>TCA378371983RBM20c.2122G>T (p.Ala708Ser)
c.1738G>T (p.Ala580Ser)
c.1957G>T (p.Ala653Ser)
10g.110812520C>ACA378371997RBM20c.2123C>A (p.Ala708Glu)
c.1739C>A (p.Ala580Glu)
c.1958C>A (p.Ala653Glu)
dbSNP
10g.110812520C>GCA5688668RBM20c.2123C>G (p.Ala708Gly)
c.1739C>G (p.Ala580Gly)
c.1958C>G (p.Ala653Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812520C>TCA378371998RBM20c.2123C>T (p.Ala708Val)
c.1739C>T (p.Ala580Val)
c.1958C>T (p.Ala653Val)
gnomAD v4
10g.110812521A>CCA471507008RBM20c.2124A>C (p.Ala708=)
c.1740A>C (p.Ala580=)
c.1959A>C (p.Ala653=)
10g.110812521A>GCA471507009RBM20c.2124A>G (p.Ala708=)
c.1740A>G (p.Ala580=)
c.1959A>G (p.Ala653=)
10g.110812521A>TCA471507010RBM20c.2124A>T (p.Ala708=)
c.1740A>T (p.Ala580=)
c.1959A>T (p.Ala653=)
gnomAD v4
10g.110812522C>ACA378371999RBM20c.2125C>A (p.His709Asn)
c.1741C>A (p.His581Asn)
c.1960C>A (p.His654Asn)
10g.110812522C>GCA378372003RBM20c.2125C>G (p.His709Asp)
c.1741C>G (p.His581Asp)
c.1960C>G (p.His654Asp)
10g.110812522C>TCA378372013RBM20c.2125C>T (p.His709Tyr)
c.1741C>T (p.His581Tyr)
c.1960C>T (p.His654Tyr)
10g.110812523A>CCA378372018RBM20c.2126A>C (p.His709Pro)
c.1742A>C (p.His581Pro)
c.1961A>C (p.His654Pro)
10g.110812523A>GCA378372025RBM20c.2126A>G (p.His709Arg)
c.1742A>G (p.His581Arg)
c.1961A>G (p.His654Arg)
ClinVar dbSNP gnomAD v4
10g.110812523A>TCA378372046RBM20c.2126A>T (p.His709Leu)
c.1742A>T (p.His581Leu)
c.1961A>T (p.His654Leu)
10g.110812524T>ACA378372055RBM20c.2127T>A (p.His709Gln)
c.1743T>A (p.His581Gln)
c.1962T>A (p.His654Gln)
10g.110812524T>CCA471507018RBM20c.2127T>C (p.His709=)
c.1743T>C (p.His581=)
c.1962T>C (p.His654=)
10g.110812524T>GCA378372059RBM20c.2127T>G (p.His709Gln)
c.1743T>G (p.His581Gln)
c.1962T>G (p.His654Gln)
10g.110812525G>ACA378372062RBM20c.2128G>A (p.Asp710Asn)
c.1744G>A (p.Asp582Asn)
c.1963G>A (p.Asp655Asn)
10g.110812525G>CCA378372061RBM20c.2128G>C (p.Asp710His)
c.1744G>C (p.Asp582His)
c.1963G>C (p.Asp655His)
10g.110812525G>TCA378372060RBM20c.2128G>T (p.Asp710Tyr)
c.1744G>T (p.Asp582Tyr)
c.1963G>T (p.Asp655Tyr)
10g.110812526A>CCA378372065RBM20c.2129A>C (p.Asp710Ala)
c.1745A>C (p.Asp582Ala)
c.1964A>C (p.Asp655Ala)
10g.110812526A>GCA378372068RBM20c.2129A>G (p.Asp710Gly)
c.1745A>G (p.Asp582Gly)
c.1964A>G (p.Asp655Gly)
gnomAD v4
10g.110812526A>TCA378372076RBM20c.2129A>T (p.Asp710Val)
c.1745A>T (p.Asp582Val)
c.1964A>T (p.Asp655Val)
10g.110812527T>ACA378372083RBM20c.2130T>A (p.Asp710Glu)
c.1746T>A (p.Asp582Glu)
c.1965T>A (p.Asp655Glu)
10g.110812527T>CCA471507027RBM20c.2130T>C (p.Asp710=)
c.1746T>C (p.Asp582=)
c.1965T>C (p.Asp655=)
dbSNP gnomAD v2 gnomAD v4
10g.110812527T>GCA378372086RBM20c.2130T>G (p.Asp710Glu)
c.1746T>G (p.Asp582Glu)
c.1965T>G (p.Asp655Glu)
10g.110812528C>ACA378372087RBM20c.2131C>A (p.Arg711Ser)
c.1747C>A (p.Arg583Ser)
c.1966C>A (p.Arg656Ser)
10g.110812528C>GCA378372089RBM20c.2131C>G (p.Arg711Gly)
c.1747C>G (p.Arg583Gly)
c.1966C>G (p.Arg656Gly)
ClinVar dbSNP
10g.110812528C>TCA10587690RBM20c.2131C>T (p.Arg711Cys)
c.1747C>T (p.Arg583Cys)
c.1966C>T (p.Arg656Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812529G>ACA378372098RBM20c.2132G>A (p.Arg711His)
c.1748G>A (p.Arg583His)
c.1967G>A (p.Arg656His)
ClinVar dbSNP
10g.110812529G>CCA378372114RBM20c.2132G>C (p.Arg711Pro)
c.1748G>C (p.Arg583Pro)
c.1967G>C (p.Arg656Pro)
ClinVar dbSNP
10g.110812529G>TCA378372118RBM20c.2132G>T (p.Arg711Leu)
c.1748G>T (p.Arg583Leu)
c.1967G>T (p.Arg656Leu)
gnomAD v4
10g.110812530C>ACA471507032RBM20c.2133C>A (p.Arg711=)
c.1749C>A (p.Arg583=)
c.1968C>A (p.Arg656=)
10g.110812530C>GCA471507035RBM20c.2133C>G (p.Arg711=)
c.1749C>G (p.Arg583=)
c.1968C>G (p.Arg656=)
10g.110812530C>TCA471507036RBM20c.2133C>T (p.Arg711=)
c.1749C>T (p.Arg583=)
c.1968C>T (p.Arg656=)
gnomAD v4
10g.110812531A>CCA378372123RBM20c.2134A>C (p.Lys712Gln)
c.1750A>C (p.Lys584Gln)
c.1969A>C (p.Lys657Gln)
10g.110812531A>GCA378372122RBM20c.2134A>G (p.Lys712Glu)
c.1750A>G (p.Lys584Glu)
c.1969A>G (p.Lys657Glu)
10g.110812531A>TCA378372121RBM20c.2134A>T (p.Lys712Ter)
c.1750A>T (p.Lys584Ter)
c.1969A>T (p.Lys657Ter)
10g.110812532A>CCA378372125RBM20c.2135A>C (p.Lys712Thr)
c.1751A>C (p.Lys584Thr)
c.1970A>C (p.Lys657Thr)
10g.110812532A>GCA378372126RBM20c.2135A>G (p.Lys712Arg)
c.1751A>G (p.Lys584Arg)
c.1970A>G (p.Lys657Arg)
10g.110812532A>TCA378372127RBM20c.2135A>T (p.Lys712Ile)
c.1751A>T (p.Lys584Ile)
c.1970A>T (p.Lys657Ile)
gnomAD v4
10g.110812533A>CCA378372131RBM20c.2136A>C (p.Lys712Asn)
c.1752A>C (p.Lys584Asn)
c.1971A>C (p.Lys657Asn)
10g.110812533A>GCA471507043RBM20c.2136A>G (p.Lys712=)
c.1752A>G (p.Lys584=)
c.1971A>G (p.Lys657=)
dbSNP
10g.110812533A>TCA378372137RBM20c.2136A>T (p.Lys712Asn)
c.1752A>T (p.Lys584Asn)
c.1971A>T (p.Lys657Asn)
10g.110812534C>ACA378372140RBM20c.2137C>A (p.His713Asn)
c.1753C>A (p.His585Asn)
c.1972C>A (p.His658Asn)
10g.110812534C>GCA378372149RBM20c.2137C>G (p.His713Asp)
c.1753C>G (p.His585Asp)
c.1972C>G (p.His658Asp)
10g.110812534C>TCA378372154RBM20c.2137C>T (p.His713Tyr)
c.1753C>T (p.His585Tyr)
c.1972C>T (p.His658Tyr)
dbSNP
10g.110812535A>CCA378372155RBM20c.2138A>C (p.His713Pro)
c.1754A>C (p.His585Pro)
c.1973A>C (p.His658Pro)
10g.110812535A>GCA378372159RBM20c.2138A>G (p.His713Arg)
c.1754A>G (p.His585Arg)
c.1973A>G (p.His658Arg)
dbSNP gnomAD v3 gnomAD v4
10g.110812535A>TCA378372160RBM20c.2138A>T (p.His713Leu)
c.1754A>T (p.His585Leu)
c.1973A>T (p.His658Leu)
10g.110812536C>ACA378372161RBM20c.2139C>A (p.His713Gln)
c.1755C>A (p.His585Gln)
c.1974C>A (p.His658Gln)
dbSNP gnomAD v4
10g.110812536C>GCA378372162RBM20c.2139C>G (p.His713Gln)
c.1755C>G (p.His585Gln)
c.1974C>G (p.His658Gln)
gnomAD v4
10g.110812536C>TCA471507050RBM20c.2139C>T (p.His713=)
c.1755C>T (p.His585=)
c.1974C>T (p.His658=)
dbSNP gnomAD v2 gnomAD v4
10g.110812538_110812542dupCA659824356RBM20c.2141_2145dup (p.Arg716ThrfsTer?)
c.1757_1761dup (p.Arg588ThrfsTer?)
c.1976_1980dup (p.Arg661ThrfsTer?)
dbSNP gnomAD v3 gnomAD v4
10g.110812537C>ACA378372172RBM20c.2140C>A (p.His714Asn)
c.1756C>A (p.His586Asn)
c.1975C>A (p.His659Asn)
10g.110812537C>GCA378372163RBM20c.2140C>G (p.His714Asp)
c.1756C>G (p.His586Asp)
c.1975C>G (p.His659Asp)
10g.110812537C>TCA378372170RBM20c.2140C>T (p.His714Tyr)
c.1756C>T (p.His586Tyr)
c.1975C>T (p.His659Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812538A>CCA378372180RBM20c.2141A>C (p.His714Pro)
c.1757A>C (p.His586Pro)
c.1976A>C (p.His659Pro)
10g.110812538A>GCA378372184RBM20c.2141A>G (p.His714Arg)
c.1757A>G (p.His586Arg)
c.1976A>G (p.His659Arg)
10g.110812538A>TCA378372188RBM20c.2141A>T (p.His714Leu)
c.1757A>T (p.His586Leu)
c.1976A>T (p.His659Leu)
10g.110812539C>ACA378372189RBM20c.2142C>A (p.His714Gln)
c.1758C>A (p.His586Gln)
c.1977C>A (p.His659Gln)
ClinVar dbSNP gnomAD v4
10g.110812539C>GCA378372190RBM20c.2142C>G (p.His714Gln)
c.1758C>G (p.His586Gln)
c.1977C>G (p.His659Gln)
10g.110812539C>TCA471507053RBM20c.2142C>T (p.His714=)
c.1758C>T (p.His586=)
c.1977C>T (p.His659=)
gnomAD v4
10g.110812540C>ACA378372192RBM20c.2143C>A (p.Pro715Thr)
c.1759C>A (p.Pro587Thr)
c.1978C>A (p.Pro660Thr)
10g.110812540C>GCA378372194RBM20c.2143C>G (p.Pro715Ala)
c.1759C>G (p.Pro587Ala)
c.1978C>G (p.Pro660Ala)
10g.110812540C>TCA378372196RBM20c.2143C>T (p.Pro715Ser)
c.1759C>T (p.Pro587Ser)
c.1978C>T (p.Pro660Ser)
10g.110812541C>ACA378372198RBM20c.2144C>A (p.Pro715His)
c.1760C>A (p.Pro587His)
c.1979C>A (p.Pro660His)
10g.110812541C>GCA378372201RBM20c.2144C>G (p.Pro715Arg)
c.1760C>G (p.Pro587Arg)
c.1979C>G (p.Pro660Arg)
10g.110812541C>TCA378372207RBM20c.2144C>T (p.Pro715Leu)
c.1760C>T (p.Pro587Leu)
c.1979C>T (p.Pro660Leu)
10g.110812542C>ACA471507058RBM20c.2145C>A (p.Pro715=)
c.1761C>A (p.Pro587=)
c.1980C>A (p.Pro660=)
10g.110812542C>GCA471507060RBM20c.2145C>G (p.Pro715=)
c.1761C>G (p.Pro587=)
c.1980C>G (p.Pro660=)
10g.110812542C>TCA5688669RBM20c.2145C>T (p.Pro715=)
c.1761C>T (p.Pro587=)
c.1980C>T (p.Pro660=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812543C>ACA471507062RBM20c.2146C>A (p.Arg716=)
c.1762C>A (p.Arg588=)
c.1981C>A (p.Arg661=)
10g.110812543C>GCA378372212RBM20c.2146C>G (p.Arg716Gly)
c.1762C>G (p.Arg588Gly)
c.1981C>G (p.Arg661Gly)
gnomAD v4
10g.110812543C>TCA378372218RBM20c.2146C>T (p.Arg716Trp)
c.1762C>T (p.Arg588Trp)
c.1981C>T (p.Arg661Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812544G>ACA133304RBM20c.2147G>A (p.Arg716Gln)
c.1763G>A (p.Arg588Gln)
c.1982G>A (p.Arg661Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812544G>CCA378372225RBM20c.2147G>C (p.Arg716Pro)
c.1763G>C (p.Arg588Pro)
c.1982G>C (p.Arg661Pro)
gnomAD v4
10g.110812544G>TCA378372222RBM20c.2147G>T (p.Arg716Leu)
c.1763G>T (p.Arg588Leu)
c.1982G>T (p.Arg661Leu)
10g.110812545G>ACA471507067RBM20c.2148G>A (p.Arg716=)
c.1764G>A (p.Arg588=)
c.1983G>A (p.Arg661=)
10g.110812545G>CCA471507068RBM20c.2148G>C (p.Arg716=)
c.1764G>C (p.Arg588=)
c.1983G>C (p.Arg661=)
10g.110812545G>TCA471507069RBM20c.2148G>T (p.Arg716=)
c.1764G>T (p.Arg588=)
c.1983G>T (p.Arg661=)
10g.110812546C>ACA213223830RBM20c.2149C>A (p.Gln717Lys)
c.1765C>A (p.Gln589Lys)
c.1984C>A (p.Gln662Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812546C>GCA378372238RBM20c.2149C>G (p.Gln717Glu)
c.1765C>G (p.Gln589Glu)
c.1984C>G (p.Gln662Glu)
10g.110812546C>TCA378372234RBM20c.2149C>T (p.Gln717Ter)
c.1765C>T (p.Gln589Ter)
c.1984C>T (p.Gln662Ter)
10g.110812547A>CCA378372240RBM20c.2150A>C (p.Gln717Pro)
c.1766A>C (p.Gln589Pro)
c.1985A>C (p.Gln662Pro)
10g.110812547A>GCA378372242RBM20c.2150A>G (p.Gln717Arg)
c.1766A>G (p.Gln589Arg)
c.1985A>G (p.Gln662Arg)
10g.110812547A>TCA378372244RBM20c.2150A>T (p.Gln717Leu)
c.1766A>T (p.Gln589Leu)
c.1985A>T (p.Gln662Leu)
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)

Number of alleles fetched