Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812580_110812582delCA10576770RBM20c.2183_2185del (p.Glu728del)
c.1799_1801del (p.Glu600del)
c.2018_2020del (p.Glu673del)
ClinVar dbSNP gnomAD v2 gnomAD v4
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)
10g.110812649G>ACA378373005RBM20c.2252G>A (p.Ser751Asn)
c.1868G>A (p.Ser623Asn)
c.2087G>A (p.Ser696Asn)
10g.110812649G>CCA378373007RBM20c.2252G>C (p.Ser751Thr)
c.1868G>C (p.Ser623Thr)
c.2087G>C (p.Ser696Thr)
10g.110812649G>TCA378373010RBM20c.2252G>T (p.Ser751Ile)
c.1868G>T (p.Ser623Ile)
c.2087G>T (p.Ser696Ile)
10g.110812650C>ACA378373014RBM20c.2253C>A (p.Ser751Arg)
c.1869C>A (p.Ser623Arg)
c.2088C>A (p.Ser696Arg)
10g.110812650C>GCA378373022RBM20c.2253C>G (p.Ser751Arg)
c.1869C>G (p.Ser623Arg)
c.2088C>G (p.Ser696Arg)
10g.110812650C>TCA471507287RBM20c.2253C>T (p.Ser751=)
c.1869C>T (p.Ser623=)
c.2088C>T (p.Ser696=)
dbSNP
10g.110812651T>ACA378373027RBM20c.2254T>A (p.Tyr752Asn)
c.1870T>A (p.Tyr624Asn)
c.2089T>A (p.Tyr697Asn)
10g.110812651T>CCA378373031RBM20c.2254T>C (p.Tyr752His)
c.1870T>C (p.Tyr624His)
c.2089T>C (p.Tyr697His)
gnomAD v4
10g.110812651T>GCA378373033RBM20c.2254T>G (p.Tyr752Asp)
c.1870T>G (p.Tyr624Asp)
c.2089T>G (p.Tyr697Asp)
10g.110812652A>CCA378373037RBM20c.2255A>C (p.Tyr752Ser)
c.1871A>C (p.Tyr624Ser)
c.2090A>C (p.Tyr697Ser)
10g.110812652A>GCA378373041RBM20c.2255A>G (p.Tyr752Cys)
c.1871A>G (p.Tyr624Cys)
c.2090A>G (p.Tyr697Cys)
ClinVar
10g.110812652A>TCA378373044RBM20c.2255A>T (p.Tyr752Phe)
c.1871A>T (p.Tyr624Phe)
c.2090A>T (p.Tyr697Phe)
10g.110812653C>ACA213224058RBM20c.2256C>A (p.Tyr752Ter)
c.1872C>A (p.Tyr624Ter)
c.2091C>A (p.Tyr697Ter)
dbSNP
10g.110812653C>GCA378373047RBM20c.2256C>G (p.Tyr752Ter)
c.1872C>G (p.Tyr624Ter)
c.2091C>G (p.Tyr697Ter)
10g.110812653C>TCA471507295RBM20c.2256C>T (p.Tyr752=)
c.1872C>T (p.Tyr624=)
c.2091C>T (p.Tyr697=)
10g.110812654A>CCA378373060RBM20c.2257A>C (p.Lys753Gln)
c.1873A>C (p.Lys625Gln)
c.2092A>C (p.Lys698Gln)
10g.110812654A>GCA378373062RBM20c.2257A>G (p.Lys753Glu)
c.1873A>G (p.Lys625Glu)
c.2092A>G (p.Lys698Glu)
10g.110812654A>TCA378373065RBM20c.2257A>T (p.Lys753Ter)
c.1873A>T (p.Lys625Ter)
c.2092A>T (p.Lys698Ter)
10g.110812655A>CCA378373067RBM20c.2258A>C (p.Lys753Thr)
c.1874A>C (p.Lys625Thr)
c.2093A>C (p.Lys698Thr)
10g.110812655A>GCA378373070RBM20c.2258A>G (p.Lys753Arg)
c.1874A>G (p.Lys625Arg)
c.2093A>G (p.Lys698Arg)
10g.110812655A>TCA378373072RBM20c.2258A>T (p.Lys753Ile)
c.1874A>T (p.Lys625Ile)
c.2093A>T (p.Lys698Ile)
10g.110812656A>CCA378373075RBM20c.2259A>C (p.Lys753Asn)
c.1875A>C (p.Lys625Asn)
c.2094A>C (p.Lys698Asn)
10g.110812656A>GCA471507303RBM20c.2259A>G (p.Lys753=)
c.1875A>G (p.Lys625=)
c.2094A>G (p.Lys698=)
10g.110812656A>TCA378373077RBM20c.2259A>T (p.Lys753Asn)
c.1875A>T (p.Lys625Asn)
c.2094A>T (p.Lys698Asn)
dbSNP gnomAD v4
10g.110812657A>CCA378373092RBM20c.2260A>C (p.Ser754Arg)
c.1876A>C (p.Ser626Arg)
c.2095A>C (p.Ser699Arg)
10g.110812657A>GCA378373094RBM20c.2260A>G (p.Ser754Gly)
c.1876A>G (p.Ser626Gly)
c.2095A>G (p.Ser699Gly)
10g.110812657A>TCA378373095RBM20c.2260A>T (p.Ser754Cys)
c.1876A>T (p.Ser626Cys)
c.2095A>T (p.Ser699Cys)
dbSNP gnomAD v2 gnomAD v4
10g.110812658G>ACA378373098RBM20c.2261G>A (p.Ser754Asn)
c.1877G>A (p.Ser626Asn)
c.2096G>A (p.Ser699Asn)
gnomAD v4
10g.110812658G>CCA378373100RBM20c.2261G>C (p.Ser754Thr)
c.1877G>C (p.Ser626Thr)
c.2096G>C (p.Ser699Thr)
10g.110812658G>TCA378373101RBM20c.2261G>T (p.Ser754Ile)
c.1877G>T (p.Ser626Ile)
c.2096G>T (p.Ser699Ile)
10g.110812659C>ACA378373105RBM20c.2262C>A (p.Ser754Arg)
c.1878C>A (p.Ser626Arg)
c.2097C>A (p.Ser699Arg)
10g.110812659C>GCA378373103RBM20c.2262C>G (p.Ser754Arg)
c.1878C>G (p.Ser626Arg)
c.2097C>G (p.Ser699Arg)
10g.110812659C>TCA471507310RBM20c.2262C>T (p.Ser754=)
c.1878C>T (p.Ser626=)
c.2097C>T (p.Ser699=)
10g.110812660C>ACA378373107RBM20c.2263C>A (p.Arg755Ser)
c.1879C>A (p.Arg627Ser)
c.2098C>A (p.Arg700Ser)
10g.110812660C>GCA378373108RBM20c.2263C>G (p.Arg755Gly)
c.1879C>G (p.Arg627Gly)
c.2098C>G (p.Arg700Gly)
ClinVar
10g.110812660C>TCA5688676RBM20c.2263C>T (p.Arg755Cys)
c.1879C>T (p.Arg627Cys)
c.2098C>T (p.Arg700Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812661G>ACA213224085RBM20c.2264G>A (p.Arg755His)
c.1880G>A (p.Arg627His)
c.2099G>A (p.Arg700His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812661G>CCA378373113RBM20c.2264G>C (p.Arg755Pro)
c.1880G>C (p.Arg627Pro)
c.2099G>C (p.Arg700Pro)
10g.110812661G>TCA378373115RBM20c.2264G>T (p.Arg755Leu)
c.1880G>T (p.Arg627Leu)
c.2099G>T (p.Arg700Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812662T>ACA471507318RBM20c.2265T>A (p.Arg755=)
c.1881T>A (p.Arg627=)
c.2100T>A (p.Arg700=)
10g.110812662T>CCA471507319RBM20c.2265T>C (p.Arg755=)
c.1881T>C (p.Arg627=)
c.2100T>C (p.Arg700=)
10g.110812662T>GCA471507320RBM20c.2265T>G (p.Arg755=)
c.1881T>G (p.Arg627=)
c.2100T>G (p.Arg700=)
gnomAD v4
10g.110812663G>ACA378373120RBM20c.2266G>A (p.Glu756Lys)
c.1882G>A (p.Glu628Lys)
c.2101G>A (p.Glu701Lys)
10g.110812663G>CCA378373117RBM20c.2266G>C (p.Glu756Gln)
c.1882G>C (p.Glu628Gln)
c.2101G>C (p.Glu701Gln)
dbSNP
10g.110812663G>TCA378373118RBM20c.2266G>T (p.Glu756Ter)
c.1882G>T (p.Glu628Ter)
c.2101G>T (p.Glu701Ter)
10g.110812664A>CCA378373123RBM20c.2267A>C (p.Glu756Ala)
c.1883A>C (p.Glu628Ala)
c.2102A>C (p.Glu701Ala)
10g.110812664A>GCA378373124RBM20c.2267A>G (p.Glu756Gly)
c.1883A>G (p.Glu628Gly)
c.2102A>G (p.Glu701Gly)
gnomAD v4
10g.110812664A>TCA378373126RBM20c.2267A>T (p.Glu756Val)
c.1883A>T (p.Glu628Val)
c.2102A>T (p.Glu701Val)
10g.110812665A>CCA378373128RBM20c.2268A>C (p.Glu756Asp)
c.1884A>C (p.Glu628Asp)
c.2103A>C (p.Glu701Asp)
10g.110812665A>GCA471507327RBM20c.2268A>G (p.Glu756=)
c.1884A>G (p.Glu628=)
c.2103A>G (p.Glu701=)
10g.110812665A>TCA378373130RBM20c.2268A>T (p.Glu756Asp)
c.1884A>T (p.Glu628Asp)
c.2103A>T (p.Glu701Asp)
10g.110812666G>ACA378373134RBM20c.2269G>A (p.Asp757Asn)
c.1885G>A (p.Asp629Asn)
c.2104G>A (p.Asp702Asn)
10g.110812666G>CCA378373131RBM20c.2269G>C (p.Asp757His)
c.1885G>C (p.Asp629His)
c.2104G>C (p.Asp702His)
10g.110812666G>TCA378373132RBM20c.2269G>T (p.Asp757Tyr)
c.1885G>T (p.Asp629Tyr)
c.2104G>T (p.Asp702Tyr)
10g.110812667A>CCA378373136RBM20c.2270A>C (p.Asp757Ala)
c.1886A>C (p.Asp629Ala)
c.2105A>C (p.Asp702Ala)
10g.110812667A>GCA378373137RBM20c.2270A>G (p.Asp757Gly)
c.1886A>G (p.Asp629Gly)
c.2105A>G (p.Asp702Gly)
10g.110812667A>TCA378373139RBM20c.2270A>T (p.Asp757Val)
c.1886A>T (p.Asp629Val)
c.2105A>T (p.Asp702Val)
10g.110812668C>ACA378373141RBM20c.2271C>A (p.Asp757Glu)
c.1887C>A (p.Asp629Glu)
c.2106C>A (p.Asp702Glu)
10g.110812668C>GCA378373143RBM20c.2271C>G (p.Asp757Glu)
c.1887C>G (p.Asp629Glu)
c.2106C>G (p.Asp702Glu)
10g.110812668C>TCA471507335RBM20c.2271C>T (p.Asp757=)
c.1887C>T (p.Asp629=)
c.2106C>T (p.Asp702=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812669G>ACA378373148RBM20c.2272G>A (p.Gly758Ser)
c.1888G>A (p.Gly630Ser)
c.2107G>A (p.Gly703Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812669G>CCA378373146RBM20c.2272G>C (p.Gly758Arg)
c.1888G>C (p.Gly630Arg)
c.2107G>C (p.Gly703Arg)
gnomAD v4
10g.110812669G>TCA378373144RBM20c.2272G>T (p.Gly758Cys)
c.1888G>T (p.Gly630Cys)
c.2107G>T (p.Gly703Cys)
gnomAD v4
10g.110812670G>ACA378373149RBM20c.2273G>A (p.Gly758Asp)
c.1889G>A (p.Gly630Asp)
c.2108G>A (p.Gly703Asp)
10g.110812670G>CCA378373151RBM20c.2273G>C (p.Gly758Ala)
c.1889G>C (p.Gly630Ala)
c.2108G>C (p.Gly703Ala)
gnomAD v4
10g.110812670G>TCA378373152RBM20c.2273G>T (p.Gly758Val)
c.1889G>T (p.Gly630Val)
c.2108G>T (p.Gly703Val)
10g.110812671C>ACA471507336RBM20c.2274C>A (p.Gly758=)
c.1890C>A (p.Gly630=)
c.2109C>A (p.Gly703=)
10g.110812671C>GCA471507337RBM20c.2274C>G (p.Gly758=)
c.1890C>G (p.Gly630=)
c.2109C>G (p.Gly703=)
10g.110812671C>TCA471507338RBM20c.2274C>T (p.Gly758=)
c.1890C>T (p.Gly630=)
c.2109C>T (p.Gly703=)
10g.110812672T>ACA378373154RBM20c.2275T>A (p.Tyr759Asn)
c.1891T>A (p.Tyr631Asn)
c.2110T>A (p.Tyr704Asn)
10g.110812672T>CCA378373156RBM20c.2275T>C (p.Tyr759His)
c.1891T>C (p.Tyr631His)
c.2110T>C (p.Tyr704His)
dbSNP
10g.110812672T>GCA378373158RBM20c.2275T>G (p.Tyr759Asp)
c.1891T>G (p.Tyr631Asp)
c.2110T>G (p.Tyr704Asp)
10g.110812673A>CCA378373164RBM20c.2276A>C (p.Tyr759Ser)
c.1892A>C (p.Tyr631Ser)
c.2111A>C (p.Tyr704Ser)
10g.110812673A>GCA378373161RBM20c.2276A>G (p.Tyr759Cys)
c.1892A>G (p.Tyr631Cys)
c.2111A>G (p.Tyr704Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812673A>TCA378373162RBM20c.2276A>T (p.Tyr759Phe)
c.1892A>T (p.Tyr631Phe)
c.2111A>T (p.Tyr704Phe)
10g.110812674C>ACA378373165RBM20c.2277C>A (p.Tyr759Ter)
c.1893C>A (p.Tyr631Ter)
c.2112C>A (p.Tyr704Ter)
10g.110812674C>GCA378373166RBM20c.2277C>G (p.Tyr759Ter)
c.1893C>G (p.Tyr631Ter)
c.2112C>G (p.Tyr704Ter)
10g.110812674C>TCA471507342RBM20c.2277C>T (p.Tyr759=)
c.1893C>T (p.Tyr631=)
c.2112C>T (p.Tyr704=)
10g.110812675T>ACA378373168RBM20c.2278T>A (p.Tyr760Asn)
c.1894T>A (p.Tyr632Asn)
c.2113T>A (p.Tyr705Asn)
dbSNP gnomAD v4
10g.110812675T>CCA378373170RBM20c.2278T>C (p.Tyr760His)
c.1894T>C (p.Tyr632His)
c.2113T>C (p.Tyr705His)
10g.110812675T>GCA378373171RBM20c.2278T>G (p.Tyr760Asp)
c.1894T>G (p.Tyr632Asp)
c.2113T>G (p.Tyr705Asp)
10g.110812676A>CCA378373176RBM20c.2279A>C (p.Tyr760Ser)
c.1895A>C (p.Tyr632Ser)
c.2114A>C (p.Tyr705Ser)
10g.110812676A>GCA378373177RBM20c.2279A>G (p.Tyr760Cys)
c.1895A>G (p.Tyr632Cys)
c.2114A>G (p.Tyr705Cys)
10g.110812676A>TCA378373178RBM20c.2279A>T (p.Tyr760Phe)
c.1895A>T (p.Tyr632Phe)
c.2114A>T (p.Tyr705Phe)
10g.110812677C>ACA378373179RBM20c.2280C>A (p.Tyr760Ter)
c.1896C>A (p.Tyr632Ter)
c.2115C>A (p.Tyr705Ter)
10g.110812677C>GCA378373180RBM20c.2280C>G (p.Tyr760Ter)
c.1896C>G (p.Tyr632Ter)
c.2115C>G (p.Tyr705Ter)
10g.110812677C>TCA471507348RBM20c.2280C>T (p.Tyr760=)
c.1896C>T (p.Tyr632=)
c.2115C>T (p.Tyr705=)
10g.110812677_110812679dupCA2497307631RBM20c.2280_2282dup (p.Arg761_Lys762insArg)
c.1896_1898dup (p.Arg633_Lys634insArg)
c.2115_2117dup (p.Arg706_Lys707insArg)
ClinVar dbSNP
10g.110812678C>ACA471507349RBM20c.2281C>A (p.Arg761=)
c.1897C>A (p.Arg633=)
c.2116C>A (p.Arg706=)
dbSNP gnomAD v2 gnomAD v4
10g.110812678C>GCA378373182RBM20c.2281C>G (p.Arg761Gly)
c.1897C>G (p.Arg633Gly)
c.2116C>G (p.Arg706Gly)
10g.110812678C>TCA5688677RBM20c.2281C>T (p.Arg761Trp)
c.1897C>T (p.Arg633Trp)
c.2116C>T (p.Arg706Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812679G>ACA5688678RBM20c.2282G>A (p.Arg761Gln)
c.1898G>A (p.Arg633Gln)
c.2117G>A (p.Arg706Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812679G>CCA378373188RBM20c.2282G>C (p.Arg761Pro)
c.1898G>C (p.Arg633Pro)
c.2117G>C (p.Arg706Pro)
10g.110812679G>TCA378373186RBM20c.2282G>T (p.Arg761Leu)
c.1898G>T (p.Arg633Leu)
c.2117G>T (p.Arg706Leu)
dbSNP
10g.110812680G>ACA471507358RBM20c.2283G>A (p.Arg761=)
c.1899G>A (p.Arg633=)
c.2118G>A (p.Arg706=)
10g.110812680G>CCA471507359RBM20c.2283G>C (p.Arg761=)
c.1899G>C (p.Arg633=)
c.2118G>C (p.Arg706=)
10g.110812680G>TCA471507360RBM20c.2283G>T (p.Arg761=)
c.1899G>T (p.Arg633=)
c.2118G>T (p.Arg706=)
ClinVar dbSNP
10g.110812682_110812685dupCA2610892822RBM20c.2285_2288dup (p.Pro764ArgfsTer?)
c.1901_1904dup (p.Pro636ArgfsTer?)
c.2120_2123dup (p.Pro709ArgfsTer?)
gnomAD v4
10g.110812681A>CCA378373190RBM20c.2284A>C (p.Lys762Gln)
c.1900A>C (p.Lys634Gln)
c.2119A>C (p.Lys707Gln)
10g.110812681A>GCA378373191RBM20c.2284A>G (p.Lys762Glu)
c.1900A>G (p.Lys634Glu)
c.2119A>G (p.Lys707Glu)
ClinVar gnomAD v4
10g.110812681A>TCA378373192RBM20c.2284A>T (p.Lys762Ter)
c.1900A>T (p.Lys634Ter)
c.2119A>T (p.Lys707Ter)
10g.110812683dupCA10576771RBM20c.2286dup (p.Glu763ArgfsTer?)
c.1902dup (p.Glu635ArgfsTer?)
c.2121dup (p.Glu708ArgfsTer?)
ClinVar dbSNP

Number of alleles fetched