Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.110812682A>CCA378373193RBM20c.2285A>C (p.Lys762Thr)
c.1901A>C (p.Lys634Thr)
c.2120A>C (p.Lys707Thr)
10g.110812682A>GCA378373195RBM20c.2285A>G (p.Lys762Arg)
c.1901A>G (p.Lys634Arg)
c.2120A>G (p.Lys707Arg)
10g.110812682A>TCA378373196RBM20c.2285A>T (p.Lys762Ile)
c.1901A>T (p.Lys634Ile)
c.2120A>T (p.Lys707Ile)
10g.110812683A>CCA378373198RBM20c.2286A>C (p.Lys762Asn)
c.1902A>C (p.Lys634Asn)
c.2121A>C (p.Lys707Asn)
10g.110812683A>GCA471507365RBM20c.2286A>G (p.Lys762=)
c.1902A>G (p.Lys634=)
c.2121A>G (p.Lys707=)
ClinVar dbSNP gnomAD v4
10g.110812683A>TCA378373199RBM20c.2286A>T (p.Lys762Asn)
c.1902A>T (p.Lys634Asn)
c.2121A>T (p.Lys707Asn)
10g.110812684G>ACA335559RBM20c.2287G>A (p.Glu763Lys)
c.1903G>A (p.Glu635Lys)
c.2122G>A (p.Glu708Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812684G>CCA378373202RBM20c.2287G>C (p.Glu763Gln)
c.1903G>C (p.Glu635Gln)
c.2122G>C (p.Glu708Gln)
gnomAD v4
10g.110812684G>TCA378373203RBM20c.2287G>T (p.Glu763Ter)
c.1903G>T (p.Glu635Ter)
c.2122G>T (p.Glu708Ter)
10g.110812685A>CCA378373205RBM20c.2288A>C (p.Glu763Ala)
c.1904A>C (p.Glu635Ala)
c.2123A>C (p.Glu708Ala)
gnomAD v4
10g.110812685A>GCA378373207RBM20c.2288A>G (p.Glu763Gly)
c.1904A>G (p.Glu635Gly)
c.2123A>G (p.Glu708Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812685A>TCA378373209RBM20c.2288A>T (p.Glu763Val)
c.1904A>T (p.Glu635Val)
c.2123A>T (p.Glu708Val)
10g.110812686G>ACA471507374RBM20c.2289G>A (p.Glu763=)
c.1905G>A (p.Glu635=)
c.2124G>A (p.Glu708=)
dbSNP gnomAD v4
10g.110812686G>CCA5688679RBM20c.2289G>C (p.Glu763Asp)
c.1905G>C (p.Glu635Asp)
c.2124G>C (p.Glu708Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812686G>TCA378373210RBM20c.2289G>T (p.Glu763Asp)
c.1905G>T (p.Glu635Asp)
c.2124G>T (p.Glu708Asp)
gnomAD v4
10g.110812687C>ACA378373214RBM20c.2290C>A (p.Pro764Thr)
c.1906C>A (p.Pro636Thr)
c.2125C>A (p.Pro709Thr)
10g.110812687C>GCA378373215RBM20c.2290C>G (p.Pro764Ala)
c.1906C>G (p.Pro636Ala)
c.2125C>G (p.Pro709Ala)
10g.110812687C>TCA213224154RBM20c.2290C>T (p.Pro764Ser)
c.1906C>T (p.Pro636Ser)
c.2125C>T (p.Pro709Ser)
dbSNP
10g.110812688C>ACA213224164RBM20c.2291C>A (p.Pro764His)
c.1907C>A (p.Pro636His)
c.2126C>A (p.Pro709His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812688C>GCA213224174RBM20c.2291C>G (p.Pro764Arg)
c.1907C>G (p.Pro636Arg)
c.2126C>G (p.Pro709Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812688C>TCA378373221RBM20c.2291C>T (p.Pro764Leu)
c.1907C>T (p.Pro636Leu)
c.2126C>T (p.Pro709Leu)
dbSNP gnomAD v3 gnomAD v4
10g.110812689C>ACA471507382RBM20c.2292C>A (p.Pro764=)
c.1908C>A (p.Pro636=)
c.2127C>A (p.Pro709=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812689C>GCA471507388RBM20c.2292C>G (p.Pro764=)
c.1908C>G (p.Pro636=)
c.2127C>G (p.Pro709=)
gnomAD v4
10g.110812689C>TCA471507386RBM20c.2292C>T (p.Pro764=)
c.1908C>T (p.Pro636=)
c.2127C>T (p.Pro709=)
10g.110812690A>CCA378373227RBM20c.2293A>C (p.Lys765Gln)
c.1909A>C (p.Lys637Gln)
c.2128A>C (p.Lys710Gln)
10g.110812690A>GCA378373223RBM20c.2293A>G (p.Lys765Glu)
c.1909A>G (p.Lys637Glu)
c.2128A>G (p.Lys710Glu)
10g.110812690A>TCA378373225RBM20c.2293A>T (p.Lys765Ter)
c.1909A>T (p.Lys637Ter)
c.2128A>T (p.Lys710Ter)
10g.110812691A>CCA378373229RBM20c.2294A>C (p.Lys765Thr)
c.1910A>C (p.Lys637Thr)
c.2129A>C (p.Lys710Thr)
ClinVar dbSNP
10g.110812691A>GCA378373231RBM20c.2294A>G (p.Lys765Arg)
c.1910A>G (p.Lys637Arg)
c.2129A>G (p.Lys710Arg)
dbSNP gnomAD v4
10g.110812691A>TCA378373233RBM20c.2294A>T (p.Lys765Ile)
c.1910A>T (p.Lys637Ile)
c.2129A>T (p.Lys710Ile)
10g.110812692A>CCA378373235RBM20c.2295A>C (p.Lys765Asn)
c.1911A>C (p.Lys637Asn)
c.2130A>C (p.Lys710Asn)
dbSNP
10g.110812692A>GCA471507391RBM20c.2295A>G (p.Lys765=)
c.1911A>G (p.Lys637=)
c.2130A>G (p.Lys710=)
10g.110812692A>TCA378373236RBM20c.2295A>T (p.Lys765Asn)
c.1911A>T (p.Lys637Asn)
c.2130A>T (p.Lys710Asn)
10g.110812693delCA2610892823RBM20c.2296del (p.Ala766ProfsTer7)
c.1912del (p.Ala638ProfsTer7)
c.2131del (p.Ala711ProfsTer7)
gnomAD v4
10g.110812693G>ACA378373237RBM20c.2296G>A (p.Ala766Thr)
c.1912G>A (p.Ala638Thr)
c.2131G>A (p.Ala711Thr)
10g.110812693G>CCA378373239RBM20c.2296G>C (p.Ala766Pro)
c.1912G>C (p.Ala638Pro)
c.2131G>C (p.Ala711Pro)
10g.110812693G>TCA378373238RBM20c.2296G>T (p.Ala766Ser)
c.1912G>T (p.Ala638Ser)
c.2131G>T (p.Ala711Ser)
10g.110812694C>ACA378373240RBM20c.2297C>A (p.Ala766Asp)
c.1913C>A (p.Ala638Asp)
c.2132C>A (p.Ala711Asp)
gnomAD v4
10g.110812694C>GCA378373242RBM20c.2297C>G (p.Ala766Gly)
c.1913C>G (p.Ala638Gly)
c.2132C>G (p.Ala711Gly)
10g.110812694C>TCA378373244RBM20c.2297C>T (p.Ala766Val)
c.1913C>T (p.Ala638Val)
c.2132C>T (p.Ala711Val)
dbSNP gnomAD v2
10g.110812695C>ACA471507398RBM20c.2298C>A (p.Ala766=)
c.1914C>A (p.Ala638=)
c.2133C>A (p.Ala711=)
gnomAD v4
10g.110812695C>GCA471507399RBM20c.2298C>G (p.Ala766=)
c.1914C>G (p.Ala638=)
c.2133C>G (p.Ala711=)
10g.110812695C>TCA471507400RBM20c.2298C>T (p.Ala766=)
c.1914C>T (p.Ala638=)
c.2133C>T (p.Ala711=)
10g.110812696A>CCA335561RBM20c.2299A>C (p.Lys767Gln)
c.1915A>C (p.Lys639Gln)
c.2134A>C (p.Lys712Gln)
ClinVar dbSNP
10g.110812696A>GCA5688680RBM20c.2299A>G (p.Lys767Glu)
c.1915A>G (p.Lys639Glu)
c.2134A>G (p.Lys712Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812696A>TCA378373247RBM20c.2299A>T (p.Lys767Ter)
c.1915A>T (p.Lys639Ter)
c.2134A>T (p.Lys712Ter)
10g.110812697A>CCA378373249RBM20c.2300A>C (p.Lys767Thr)
c.1916A>C (p.Lys639Thr)
c.2135A>C (p.Lys712Thr)
10g.110812697A>GCA378373251RBM20c.2300A>G (p.Lys767Arg)
c.1916A>G (p.Lys639Arg)
c.2135A>G (p.Lys712Arg)
10g.110812697A>TCA378373253RBM20c.2300A>T (p.Lys767Met)
c.1916A>T (p.Lys639Met)
c.2135A>T (p.Lys712Met)
10g.110812698G>ACA471506859RBM20c.2301G>A (p.Lys767=)
c.1917G>A (p.Lys639=)
c.2136G>A (p.Lys712=)
gnomAD v4
10g.110812698G>CCA378373255RBM20c.2301G>C (p.Lys767Asn)
c.1917G>C (p.Lys639Asn)
c.2136G>C (p.Lys712Asn)
10g.110812698G>TCA5688681RBM20c.2301G>T (p.Lys767Asn)
c.1917G>T (p.Lys639Asn)
c.2136G>T (p.Lys712Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812699T>ACA378373262RBM20c.2302T>A (p.Ser768Thr)
c.1918T>A (p.Ser640Thr)
c.2137T>A (p.Ser713Thr)
10g.110812699T>CCA378373260RBM20c.2302T>C (p.Ser768Pro)
c.1918T>C (p.Ser640Pro)
c.2137T>C (p.Ser713Pro)
dbSNP
10g.110812699T>GCA378373258RBM20c.2302T>G (p.Ser768Ala)
c.1918T>G (p.Ser640Ala)
c.2137T>G (p.Ser713Ala)
10g.110812700C>ACA378373263RBM20c.2303C>A (p.Ser768Ter)
c.1919C>A (p.Ser640Ter)
c.2138C>A (p.Ser713Ter)
ClinVar dbSNP gnomAD v4
10g.110812700C=CA177700RBM20c.2303C= (p.Ser768=)
c.1919C= (p.Ser640=)
c.2138C= (p.Ser713=)
10g.110812700C>GCA10582704RBM20c.2303C>G (p.Ser768Trp)
c.1919C>G (p.Ser640Trp)
c.2138C>G (p.Ser713Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812700C>TCA133310RBM20c.2303C>T (p.Ser768Leu)
c.1919C>T (p.Ser640Leu)
c.2138C>T (p.Ser713Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812701G>ACA5688682RBM20c.2304G>A (p.Ser768=)
c.1920G>A (p.Ser640=)
c.2139G>A (p.Ser713=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812701G>CCA471506865RBM20c.2304G>C (p.Ser768=)
c.1920G>C (p.Ser640=)
c.2139G>C (p.Ser713=)
10g.110812701G>TCA471506866RBM20c.2304G>T (p.Ser768=)
c.1920G>T (p.Ser640=)
c.2139G>T (p.Ser713=)
10g.110812702G>ACA378373267RBM20c.2305G>A (p.Asp769Asn)
c.1921G>A (p.Asp641Asn)
c.2140G>A (p.Asp714Asn)
10g.110812702G>CCA378373268RBM20c.2305G>C (p.Asp769His)
c.1921G>C (p.Asp641His)
c.2140G>C (p.Asp714His)
10g.110812702G>TCA378373270RBM20c.2305G>T (p.Asp769Tyr)
c.1921G>T (p.Asp641Tyr)
c.2140G>T (p.Asp714Tyr)
10g.110812703A>CCA378373272RBM20c.2306A>C (p.Asp769Ala)
c.1922A>C (p.Asp641Ala)
c.2141A>C (p.Asp714Ala)
10g.110812703A>GCA213224198RBM20c.2306A>G (p.Asp769Gly)
c.1922A>G (p.Asp641Gly)
c.2141A>G (p.Asp714Gly)
ClinVar dbSNP
10g.110812703A>TCA378373273RBM20c.2306A>T (p.Asp769Val)
c.1922A>T (p.Asp641Val)
c.2141A>T (p.Asp714Val)
10g.110812704C>ACA378373274RBM20c.2307C>A (p.Asp769Glu)
c.1923C>A (p.Asp641Glu)
c.2142C>A (p.Asp714Glu)
dbSNP gnomAD v2 gnomAD v4
10g.110812704C>GCA378373275RBM20c.2307C>G (p.Asp769Glu)
c.1923C>G (p.Asp641Glu)
c.2142C>G (p.Asp714Glu)
10g.110812704C>TCA471506874RBM20c.2307C>T (p.Asp769=)
c.1923C>T (p.Asp641=)
c.2142C>T (p.Asp714=)
ClinVar dbSNP gnomAD v4
10g.110812705A>CCA378373280RBM20c.2308A>C (p.Lys770Gln)
c.1924A>C (p.Lys642Gln)
c.2143A>C (p.Lys715Gln)
10g.110812705A>GCA378373279RBM20c.2308A>G (p.Lys770Glu)
c.1924A>G (p.Lys642Glu)
c.2143A>G (p.Lys715Glu)
gnomAD v4
10g.110812705A>TCA378373277RBM20c.2308A>T (p.Lys770Ter)
c.1924A>T (p.Lys642Ter)
c.2143A>T (p.Lys715Ter)
10g.110812706A>CCA378373281RBM20c.2309A>C (p.Lys770Thr)
c.1925A>C (p.Lys642Thr)
c.2144A>C (p.Lys715Thr)
gnomAD v4
10g.110812706A>GCA378373283RBM20c.2309A>G (p.Lys770Arg)
c.1925A>G (p.Lys642Arg)
c.2144A>G (p.Lys715Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812706A>TCA378373282RBM20c.2309A>T (p.Lys770Met)
c.1925A>T (p.Lys642Met)
c.2144A>T (p.Lys715Met)
10g.110812707G>ACA471506879RBM20c.2310G>A (p.Lys770=)
c.1926G>A (p.Lys642=)
c.2145G>A (p.Lys715=)
ClinVar dbSNP
10g.110812707G>CCA378373284RBM20c.2310G>C (p.Lys770Asn)
c.1926G>C (p.Lys642Asn)
c.2145G>C (p.Lys715Asn)
10g.110812707G>TCA378373285RBM20c.2310G>T (p.Lys770Asn)
c.1926G>T (p.Lys642Asn)
c.2145G>T (p.Lys715Asn)
10g.110812708T>ACA378373286RBM20c.2311T>A (p.Tyr771Asn)
c.1927T>A (p.Tyr643Asn)
c.2146T>A (p.Tyr716Asn)
10g.110812708T>CCA378373287RBM20c.2311T>C (p.Tyr771His)
c.1927T>C (p.Tyr643His)
c.2146T>C (p.Tyr716His)
gnomAD v4
10g.110812708T>GCA378373289RBM20c.2311T>G (p.Tyr771Asp)
c.1927T>G (p.Tyr643Asp)
c.2146T>G (p.Tyr716Asp)
10g.110812709A>CCA378373291RBM20c.2312A>C (p.Tyr771Ser)
c.1928A>C (p.Tyr643Ser)
c.2147A>C (p.Tyr716Ser)
10g.110812709A>GCA378373293RBM20c.2312A>G (p.Tyr771Cys)
c.1928A>G (p.Tyr643Cys)
c.2147A>G (p.Tyr716Cys)
ClinVar dbSNP gnomAD v4
10g.110812709A>TCA378373294RBM20c.2312A>T (p.Tyr771Phe)
c.1928A>T (p.Tyr643Phe)
c.2147A>T (p.Tyr716Phe)
10g.110812710T>ACA378373297RBM20c.2313T>A (p.Tyr771Ter)
c.1929T>A (p.Tyr643Ter)
c.2148T>A (p.Tyr716Ter)
10g.110812710T>CCA471506888RBM20c.2313T>C (p.Tyr771=)
c.1929T>C (p.Tyr643=)
c.2148T>C (p.Tyr716=)
10g.110812710T>GCA378373298RBM20c.2313T>G (p.Tyr771Ter)
c.1929T>G (p.Tyr643Ter)
c.2148T>G (p.Tyr716Ter)
10g.110812711C>ACA378373300RBM20c.2314C>A (p.Leu772Met)
c.1930C>A (p.Leu644Met)
c.2149C>A (p.Leu717Met)
10g.110812711C>GCA378373301RBM20c.2314C>G (p.Leu772Val)
c.1930C>G (p.Leu644Val)
c.2149C>G (p.Leu717Val)
10g.110812711C>TCA471506892RBM20c.2314C>T (p.Leu772=)
c.1930C>T (p.Leu644=)
c.2149C>T (p.Leu717=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812712T>ACA378373302RBM20c.2315T>A (p.Leu772Gln)
c.1931T>A (p.Leu644Gln)
c.2150T>A (p.Leu717Gln)
10g.110812712T>CCA378373303RBM20c.2315T>C (p.Leu772Pro)
c.1931T>C (p.Leu644Pro)
c.2150T>C (p.Leu717Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812712T>GCA378373306RBM20c.2315T>G (p.Leu772Arg)
c.1931T>G (p.Leu644Arg)
c.2150T>G (p.Leu717Arg)
10g.110812713G>ACA471506896RBM20c.2316G>A (p.Leu772=)
c.1932G>A (p.Leu644=)
c.2151G>A (p.Leu717=)
10g.110812713G>CCA471506898RBM20c.2316G>C (p.Leu772=)
c.1932G>C (p.Leu644=)
c.2151G>C (p.Leu717=)
10g.110812713G>TCA471506899RBM20c.2316G>T (p.Leu772=)
c.1932G>T (p.Leu644=)
c.2151G>T (p.Leu717=)
10g.110812714A>CCA378373310RBM20c.2317A>C (p.Lys773Gln)
c.1933A>C (p.Lys645Gln)
c.2152A>C (p.Lys718Gln)
10g.110812714A>GCA378373309RBM20c.2317A>G (p.Lys773Glu)
c.1933A>G (p.Lys645Glu)
c.2152A>G (p.Lys718Glu)
10g.110812714A>TCA378373307RBM20c.2317A>T (p.Lys773Ter)
c.1933A>T (p.Lys645Ter)
c.2152A>T (p.Lys718Ter)
10g.110812715A>CCA378373312RBM20c.2318A>C (p.Lys773Thr)
c.1934A>C (p.Lys645Thr)
c.2153A>C (p.Lys718Thr)
10g.110812715A>GCA203731RBM20c.2318A>G (p.Lys773Arg)
c.1934A>G (p.Lys645Arg)
c.2153A>G (p.Lys718Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812715A>TCA378373313RBM20c.2318A>T (p.Lys773Met)
c.1934A>T (p.Lys645Met)
c.2153A>T (p.Lys718Met)
10g.110812723_110812725delCA596112261RBM20c.2326_2328del (p.Gln776del)
c.1942_1944del (p.Gln648del)
c.2161_2163del (p.Gln721del)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812716G>ACA5688683RBM20c.2319G>A (p.Lys773=)
c.1935G>A (p.Lys645=)
c.2154G>A (p.Lys718=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812716G>CCA378373316RBM20c.2319G>C (p.Lys773Asn)
c.1935G>C (p.Lys645Asn)
c.2154G>C (p.Lys718Asn)
10g.110812716G>TCA378373317RBM20c.2319G>T (p.Lys773Asn)
c.1935G>T (p.Lys645Asn)
c.2154G>T (p.Lys718Asn)
10g.110812717C>ACA378373319RBM20c.2320C>A (p.Gln774Lys)
c.1936C>A (p.Gln646Lys)
c.2155C>A (p.Gln719Lys)
10g.110812717C>GCA378373320RBM20c.2320C>G (p.Gln774Glu)
c.1936C>G (p.Gln646Glu)
c.2155C>G (p.Gln719Glu)
10g.110812717C>TCA378373322RBM20c.2320C>T (p.Gln774Ter)
c.1936C>T (p.Gln646Ter)
c.2155C>T (p.Gln719Ter)
10g.110812718A>CCA378373324RBM20c.2321A>C (p.Gln774Pro)
c.1937A>C (p.Gln646Pro)
c.2156A>C (p.Gln719Pro)
10g.110812718A>GCA378373328RBM20c.2321A>G (p.Gln774Arg)
c.1937A>G (p.Gln646Arg)
c.2156A>G (p.Gln719Arg)
10g.110812718A>TCA378373330RBM20c.2321A>T (p.Gln774Leu)
c.1937A>T (p.Gln646Leu)
c.2156A>T (p.Gln719Leu)
10g.110812719G>ACA471506916RBM20c.2322G>A (p.Gln774=)
c.1938G>A (p.Gln646=)
c.2157G>A (p.Gln719=)
dbSNP gnomAD v2
10g.110812719G>CCA378373331RBM20c.2322G>C (p.Gln774His)
c.1938G>C (p.Gln646His)
c.2157G>C (p.Gln719His)
10g.110812719G>TCA378373332RBM20c.2322G>T (p.Gln774His)
c.1938G>T (p.Gln646His)
c.2157G>T (p.Gln719His)
10g.110812720C>ACA378373335RBM20c.2323C>A (p.Gln775Lys)
c.1939C>A (p.Gln647Lys)
c.2158C>A (p.Gln720Lys)
10g.110812720C>GCA378373341RBM20c.2323C>G (p.Gln775Glu)
c.1939C>G (p.Gln647Glu)
c.2158C>G (p.Gln720Glu)
10g.110812720C>TCA378373333RBM20c.2323C>T (p.Gln775Ter)
c.1939C>T (p.Gln647Ter)
c.2158C>T (p.Gln720Ter)
gnomAD v4
10g.110812721_110812755delCA658797538RBM20c.2324_2358del (p.Gln775ArgfsTer14)
c.1940_1974del (p.Gln647ArgfsTer14)
c.2159_2193del (p.Gln720ArgfsTer14)
ClinVar dbSNP gnomAD v4
10g.110812721A>CCA378373344RBM20c.2324A>C (p.Gln775Pro)
c.1940A>C (p.Gln647Pro)
c.2159A>C (p.Gln720Pro)
10g.110812721A>GCA378373347RBM20c.2324A>G (p.Gln775Arg)
c.1940A>G (p.Gln647Arg)
c.2159A>G (p.Gln720Arg)
10g.110812721A>TCA378373349RBM20c.2324A>T (p.Gln775Leu)
c.1940A>T (p.Gln647Leu)
c.2159A>T (p.Gln720Leu)
10g.110812722G>ACA471506930RBM20c.2325G>A (p.Gln775=)
c.1941G>A (p.Gln647=)
c.2160G>A (p.Gln720=)
10g.110812722G>CCA378373353RBM20c.2325G>C (p.Gln775His)
c.1941G>C (p.Gln647His)
c.2160G>C (p.Gln720His)
10g.110812722G>TCA378373355RBM20c.2325G>T (p.Gln775His)
c.1941G>T (p.Gln647His)
c.2160G>T (p.Gln720His)
10g.110812723C>ACA378373359RBM20c.2326C>A (p.Gln776Lys)
c.1942C>A (p.Gln648Lys)
c.2161C>A (p.Gln721Lys)
10g.110812723C>GCA378373362RBM20c.2326C>G (p.Gln776Glu)
c.1942C>G (p.Gln648Glu)
c.2161C>G (p.Gln721Glu)
10g.110812723C>TCA378373364RBM20c.2326C>T (p.Gln776Ter)
c.1942C>T (p.Gln648Ter)
c.2161C>T (p.Gln721Ter)
10g.110812724A>CCA378373367RBM20c.2327A>C (p.Gln776Pro)
c.1943A>C (p.Gln648Pro)
c.2162A>C (p.Gln721Pro)
gnomAD v4
10g.110812724A>GCA378373369RBM20c.2327A>G (p.Gln776Arg)
c.1943A>G (p.Gln648Arg)
c.2162A>G (p.Gln721Arg)
gnomAD v4
10g.110812724A>TCA378373371RBM20c.2327A>T (p.Gln776Leu)
c.1943A>T (p.Gln648Leu)
c.2162A>T (p.Gln721Leu)
10g.110812725G>ACA471506936RBM20c.2328G>A (p.Gln776=)
c.1944G>A (p.Gln648=)
c.2163G>A (p.Gln721=)
10g.110812725G>CCA378373374RBM20c.2328G>C (p.Gln776His)
c.1944G>C (p.Gln648His)
c.2163G>C (p.Gln721His)
10g.110812725G>TCA378373377RBM20c.2328G>T (p.Gln776His)
c.1944G>T (p.Gln648His)
c.2163G>T (p.Gln721His)
10g.110812726G>ACA5688684RBM20c.2329G>A (p.Asp777Asn)
c.1945G>A (p.Asp649Asn)
c.2164G>A (p.Asp722Asn)
dbSNP ExAC gnomAD v4
10g.110812726G>CCA378373380RBM20c.2329G>C (p.Asp777His)
c.1945G>C (p.Asp649His)
c.2164G>C (p.Asp722His)
gnomAD v4
10g.110812726G>TCA378373382RBM20c.2329G>T (p.Asp777Tyr)
c.1945G>T (p.Asp649Tyr)
c.2164G>T (p.Asp722Tyr)
gnomAD v4
10g.110812727A>CCA378373388RBM20c.2330A>C (p.Asp777Ala)
c.1946A>C (p.Asp649Ala)
c.2165A>C (p.Asp722Ala)
10g.110812727A>GCA378373391RBM20c.2330A>G (p.Asp777Gly)
c.1946A>G (p.Asp649Gly)
c.2165A>G (p.Asp722Gly)
10g.110812727A>TCA378373393RBM20c.2330A>T (p.Asp777Val)
c.1946A>T (p.Asp649Val)
c.2165A>T (p.Asp722Val)
gnomAD v4
10g.110812728T>ACA378373395RBM20c.2331T>A (p.Asp777Glu)
c.1947T>A (p.Asp649Glu)
c.2166T>A (p.Asp722Glu)
10g.110812728T>CCA471506939RBM20c.2331T>C (p.Asp777=)
c.1947T>C (p.Asp649=)
c.2166T>C (p.Asp722=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812728T>GCA378373399RBM20c.2331T>G (p.Asp777Glu)
c.1947T>G (p.Asp649Glu)
c.2166T>G (p.Asp722Glu)
ClinVar dbSNP
10g.110812729G>ACA378373406RBM20c.2332G>A (p.Ala778Thr)
c.1948G>A (p.Ala650Thr)
c.2167G>A (p.Ala723Thr)
10g.110812729G>CCA378373409RBM20c.2332G>C (p.Ala778Pro)
c.1948G>C (p.Ala650Pro)
c.2167G>C (p.Ala723Pro)
10g.110812729G>TCA378373411RBM20c.2332G>T (p.Ala778Ser)
c.1948G>T (p.Ala650Ser)
c.2167G>T (p.Ala723Ser)
10g.110812730C>ACA378373414RBM20c.2333C>A (p.Ala778Asp)
c.1949C>A (p.Ala650Asp)
c.2168C>A (p.Ala723Asp)
dbSNP gnomAD v4
10g.110812730C>GCA378373416RBM20c.2333C>G (p.Ala778Gly)
c.1949C>G (p.Ala650Gly)
c.2168C>G (p.Ala723Gly)
gnomAD v4
10g.110812730C>TCA133313RBM20c.2333C>T (p.Ala778Val)
c.1949C>T (p.Ala650Val)
c.2168C>T (p.Ala723Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812731C>ACA471506942RBM20c.2334C>A (p.Ala778=)
c.1950C>A (p.Ala650=)
c.2169C>A (p.Ala723=)
10g.110812731C>GCA471506941RBM20c.2334C>G (p.Ala778=)
c.1950C>G (p.Ala650=)
c.2169C>G (p.Ala723=)
10g.110812731C>TCA471506943RBM20c.2334C>T (p.Ala778=)
c.1950C>T (p.Ala650=)
c.2169C>T (p.Ala723=)
dbSNP gnomAD v4
10g.110812732C>ACA378373421RBM20c.2335C>A (p.Pro779Thr)
c.1951C>A (p.Pro651Thr)
c.2170C>A (p.Pro724Thr)
10g.110812732C>GCA378373424RBM20c.2335C>G (p.Pro779Ala)
c.1951C>G (p.Pro651Ala)
c.2170C>G (p.Pro724Ala)
gnomAD v4
10g.110812732C>TCA378373423RBM20c.2335C>T (p.Pro779Ser)
c.1951C>T (p.Pro651Ser)
c.2170C>T (p.Pro724Ser)
gnomAD v4
10g.110812733C>ACA378373425RBM20c.2336C>A (p.Pro779His)
c.1952C>A (p.Pro651His)
c.2171C>A (p.Pro724His)
gnomAD v4
10g.110812733C>GCA378373429RBM20c.2336C>G (p.Pro779Arg)
c.1952C>G (p.Pro651Arg)
c.2171C>G (p.Pro724Arg)
10g.110812733C>TCA378373426RBM20c.2336C>T (p.Pro779Leu)
c.1952C>T (p.Pro651Leu)
c.2171C>T (p.Pro724Leu)
ClinVar gnomAD v4
10g.110812734C>ACA471506944RBM20c.2337C>A (p.Pro779=)
c.1953C>A (p.Pro651=)
c.2172C>A (p.Pro724=)
gnomAD v4
10g.110812734C>GCA471506946RBM20c.2337C>G (p.Pro779=)
c.1953C>G (p.Pro651=)
c.2172C>G (p.Pro724=)
10g.110812734C>TCA471506948RBM20c.2337C>T (p.Pro779=)
c.1953C>T (p.Pro651=)
c.2172C>T (p.Pro724=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812735G>ACA5688685RBM20c.2338G>A (p.Gly780Arg)
c.1954G>A (p.Gly652Arg)
c.2173G>A (p.Gly725Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812735G>CCA353973RBM20c.2338G>C (p.Gly780Arg)
c.1954G>C (p.Gly652Arg)
c.2173G>C (p.Gly725Arg)
ClinVar dbSNP gnomAD v4
10g.110812735G>TCA378373434RBM20c.2338G>T (p.Gly780Trp)
c.1954G>T (p.Gly652Trp)
c.2173G>T (p.Gly725Trp)
ClinVar dbSNP gnomAD v4
10g.110812737delCA2610892824RBM20c.2340del (p.Arg781GlyfsTer?)
c.1956del (p.Arg653GlyfsTer?)
c.2175del (p.Arg726GlyfsTer?)
gnomAD v4
10g.110812736G>ACA378373438RBM20c.2339G>A (p.Gly780Glu)
c.1955G>A (p.Gly652Glu)
c.2174G>A (p.Gly725Glu)
ClinVar gnomAD v4
10g.110812736G>CCA378373440RBM20c.2339G>C (p.Gly780Ala)
c.1955G>C (p.Gly652Ala)
c.2174G>C (p.Gly725Ala)
10g.110812736G>TCA378373444RBM20c.2339G>T (p.Gly780Val)
c.1955G>T (p.Gly652Val)
c.2174G>T (p.Gly725Val)
10g.110812737G>ACA471506955RBM20c.2340G>A (p.Gly780=)
c.1956G>A (p.Gly652=)
c.2175G>A (p.Gly725=)
gnomAD v4
10g.110812737G>CCA471506956RBM20c.2340G>C (p.Gly780=)
c.1956G>C (p.Gly652=)
c.2175G>C (p.Gly725=)
10g.110812737G>TCA471506957RBM20c.2340G>T (p.Gly780=)
c.1956G>T (p.Gly652=)
c.2175G>T (p.Gly725=)
10g.110812738A>CCA471506958RBM20c.2341A>C (p.Arg781=)
c.1957A>C (p.Arg653=)
c.2176A>C (p.Arg726=)
10g.110812738A>GCA378373445RBM20c.2341A>G (p.Arg781Gly)
c.1957A>G (p.Arg653Gly)
c.2176A>G (p.Arg726Gly)
gnomAD v4
10g.110812738A>TCA378373452RBM20c.2341A>T (p.Arg781Trp)
c.1957A>T (p.Arg653Trp)
c.2176A>T (p.Arg726Trp)
10g.110812739G>ACA378373455RBM20c.2342G>A (p.Arg781Lys)
c.1958G>A (p.Arg653Lys)
c.2177G>A (p.Arg726Lys)
dbSNP gnomAD v4
10g.110812739G>CCA378373459RBM20c.2342G>C (p.Arg781Thr)
c.1958G>C (p.Arg653Thr)
c.2177G>C (p.Arg726Thr)
10g.110812739G>TCA378373464RBM20c.2342G>T (p.Arg781Met)
c.1958G>T (p.Arg653Met)
c.2177G>T (p.Arg726Met)
gnomAD v4
10g.110812740delCA659824936RBM20c.2343del (p.Arg781SerfsTer?)
c.1959del (p.Arg653SerfsTer?)
c.2178del (p.Arg726SerfsTer?)
ClinVar dbSNP
10g.110812740G>ACA471506963RBM20c.2343G>A (p.Arg781=)
c.1959G>A (p.Arg653=)
c.2178G>A (p.Arg726=)
10g.110812740G>CCA378373465RBM20c.2343G>C (p.Arg781Ser)
c.1959G>C (p.Arg653Ser)
c.2178G>C (p.Arg726Ser)
10g.110812740G>TCA378373466RBM20c.2343G>T (p.Arg781Ser)
c.1959G>T (p.Arg653Ser)
c.2178G>T (p.Arg726Ser)
gnomAD v4
10g.110812741T>ACA378373468RBM20c.2344T>A (p.Ser782Thr)
c.1960T>A (p.Ser654Thr)
c.2179T>A (p.Ser727Thr)
10g.110812741T>CCA378373475RBM20c.2344T>C (p.Ser782Pro)
c.1960T>C (p.Ser654Pro)
c.2179T>C (p.Ser727Pro)
gnomAD v4
10g.110812741T>GCA378373472RBM20c.2344T>G (p.Ser782Ala)
c.1960T>G (p.Ser654Ala)
c.2179T>G (p.Ser727Ala)
dbSNP
10g.110812742C>ACA378373480RBM20c.2345C>A (p.Ser782Tyr)
c.1961C>A (p.Ser654Tyr)
c.2180C>A (p.Ser727Tyr)
10g.110812742C>GCA378373483RBM20c.2345C>G (p.Ser782Cys)
c.1961C>G (p.Ser654Cys)
c.2180C>G (p.Ser727Cys)
10g.110812742C>TCA378373486RBM20c.2345C>T (p.Ser782Phe)
c.1961C>T (p.Ser654Phe)
c.2180C>T (p.Ser727Phe)
COSMIC
10g.110812743C>ACA471506970RBM20c.2346C>A (p.Ser782=)
c.1962C>A (p.Ser654=)
c.2181C>A (p.Ser727=)
10g.110812743C>GCA213224228RBM20c.2346C>G (p.Ser782=)
c.1962C>G (p.Ser654=)
c.2181C>G (p.Ser727=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812743C>TCA471506971RBM20c.2346C>T (p.Ser782=)
c.1962C>T (p.Ser654=)
c.2181C>T (p.Ser727=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812744A>CCA471506972RBM20c.2347A>C (p.Arg783=)
c.1963A>C (p.Arg655=)
c.2182A>C (p.Arg728=)
10g.110812744A>GCA378373490RBM20c.2347A>G (p.Arg783Gly)
c.1963A>G (p.Arg655Gly)
c.2182A>G (p.Arg728Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812744A>TCA378373491RBM20c.2347A>T (p.Arg783Trp)
c.1963A>T (p.Arg655Trp)
c.2182A>T (p.Arg728Trp)
gnomAD v4
10g.110812745G>ACA378373493RBM20c.2348G>A (p.Arg783Lys)
c.1964G>A (p.Arg655Lys)
c.2183G>A (p.Arg728Lys)
gnomAD v4
10g.110812745G>CCA378373494RBM20c.2348G>C (p.Arg783Thr)
c.1964G>C (p.Arg655Thr)
c.2183G>C (p.Arg728Thr)
10g.110812745G>TCA378373498RBM20c.2348G>T (p.Arg783Met)
c.1964G>T (p.Arg655Met)
c.2183G>T (p.Arg728Met)
10g.110812746G>ACA471506980RBM20c.2349G>A (p.Arg783=)
c.1965G>A (p.Arg655=)
c.2184G>A (p.Arg728=)
10g.110812746G>CCA378373501RBM20c.2349G>C (p.Arg783Ser)
c.1965G>C (p.Arg655Ser)
c.2184G>C (p.Arg728Ser)
gnomAD v4
10g.110812746G>TCA378373503RBM20c.2349G>T (p.Arg783Ser)
c.1965G>T (p.Arg655Ser)
c.2184G>T (p.Arg728Ser)
10g.110812747A>CCA471506981RBM20c.2350A>C (p.Arg784=)
c.1966A>C (p.Arg656=)
c.2185A>C (p.Arg729=)
10g.110812747A>GCA378373505RBM20c.2350A>G (p.Arg784Gly)
c.1966A>G (p.Arg656Gly)
c.2185A>G (p.Arg729Gly)
gnomAD v4
10g.110812747A>TCA378373510RBM20c.2350A>T (p.Arg784Trp)
c.1966A>T (p.Arg656Trp)
c.2185A>T (p.Arg729Trp)
10g.110812747_110812748delinsGTCA2497307632RBM20c.2350_2351delinsGT (p.Arg784Val)
c.1966_1967delinsGT (p.Arg656Val)
c.2185_2186delinsGT (p.Arg729Val)
ClinVar dbSNP
10g.110812748G>ACA378373514RBM20c.2351G>A (p.Arg784Lys)
c.1967G>A (p.Arg656Lys)
c.2186G>A (p.Arg729Lys)
dbSNP gnomAD v3 gnomAD v4
10g.110812748G>CCA378373517RBM20c.2351G>C (p.Arg784Thr)
c.1967G>C (p.Arg656Thr)
c.2186G>C (p.Arg729Thr)
10g.110812748G>TCA378373519RBM20c.2351G>T (p.Arg784Met)
c.1967G>T (p.Arg656Met)
c.2186G>T (p.Arg729Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812749G>ACA471506989RBM20c.2352G>A (p.Arg784=)
c.1968G>A (p.Arg656=)
c.2187G>A (p.Arg729=)
COSMIC
10g.110812749G>CCA378373520RBM20c.2352G>C (p.Arg784Ser)
c.1968G>C (p.Arg656Ser)
c.2187G>C (p.Arg729Ser)
gnomAD v4
10g.110812749G>TCA378373523RBM20c.2352G>T (p.Arg784Ser)
c.1968G>T (p.Arg656Ser)
c.2187G>T (p.Arg729Ser)
10g.110812750A>CCA378373528RBM20c.2353A>C (p.Lys785Gln)
c.1969A>C (p.Lys657Gln)
c.2188A>C (p.Lys730Gln)
10g.110812750A>GCA378373529RBM20c.2353A>G (p.Lys785Glu)
c.1969A>G (p.Lys657Glu)
c.2188A>G (p.Lys730Glu)
gnomAD v4
10g.110812750A>TCA378373532RBM20c.2353A>T (p.Lys785Ter)
c.1969A>T (p.Lys657Ter)
c.2188A>T (p.Lys730Ter)
10g.110812751A>CCA378373534RBM20c.2354A>C (p.Lys785Thr)
c.1970A>C (p.Lys657Thr)
c.2189A>C (p.Lys730Thr)
10g.110812751A>GCA378373535RBM20c.2354A>G (p.Lys785Arg)
c.1970A>G (p.Lys657Arg)
c.2189A>G (p.Lys730Arg)
dbSNP gnomAD v2 gnomAD v4
10g.110812751A>TCA378373536RBM20c.2354A>T (p.Lys785Ile)
c.1970A>T (p.Lys657Ile)
c.2189A>T (p.Lys730Ile)
10g.110812752A>CCA378373537RBM20c.2355A>C (p.Lys785Asn)
c.1971A>C (p.Lys657Asn)
c.2190A>C (p.Lys730Asn)
10g.110812752A>GCA471507003RBM20c.2355A>G (p.Lys785=)
c.1971A>G (p.Lys657=)
c.2190A>G (p.Lys730=)
10g.110812752A>TCA378373539RBM20c.2355A>T (p.Lys785Asn)
c.1971A>T (p.Lys657Asn)
c.2190A>T (p.Lys730Asn)
10g.110812753G>ACA378373546RBM20c.2356G>A (p.Asp786Asn)
c.1972G>A (p.Asp658Asn)
c.2191G>A (p.Asp731Asn)
10g.110812753G>CCA378373550RBM20c.2356G>C (p.Asp786His)
c.1972G>C (p.Asp658His)
c.2191G>C (p.Asp731His)
10g.110812753G>TCA378373548RBM20c.2356G>T (p.Asp786Tyr)
c.1972G>T (p.Asp658Tyr)
c.2191G>T (p.Asp731Tyr)
10g.110812754A>CCA378373552RBM20c.2357A>C (p.Asp786Ala)
c.1973A>C (p.Asp658Ala)
c.2192A>C (p.Asp731Ala)
10g.110812754A>GCA177702RBM20c.2357A>G (p.Asp786Gly)
c.1973A>G (p.Asp658Gly)
c.2192A>G (p.Asp731Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812754A>TCA378373553RBM20c.2357A>T (p.Asp786Val)
c.1973A>T (p.Asp658Val)
c.2192A>T (p.Asp731Val)
10g.110812755C>ACA378373555RBM20c.2358C>A (p.Asp786Glu)
c.1974C>A (p.Asp658Glu)
c.2193C>A (p.Asp731Glu)
ClinVar dbSNP gnomAD v4
10g.110812755C>GCA378373557RBM20c.2358C>G (p.Asp786Glu)
c.1974C>G (p.Asp658Glu)
c.2193C>G (p.Asp731Glu)
dbSNP gnomAD v2 gnomAD v4
10g.110812755C>TCA16605805RBM20c.2358C>T (p.Asp786=)
c.1974C>T (p.Asp658=)
c.2193C>T (p.Asp731=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812756G>ACA10587691RBM20c.2359G>A (p.Glu787Lys)
c.1975G>A (p.Glu659Lys)
c.2194G>A (p.Glu732Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812756G>CCA378373559RBM20c.2359G>C (p.Glu787Gln)
c.1975G>C (p.Glu659Gln)
c.2194G>C (p.Glu732Gln)
gnomAD v4
10g.110812756G>TCA378373561RBM20c.2359G>T (p.Glu787Ter)
c.1975G>T (p.Glu659Ter)
c.2194G>T (p.Glu732Ter)
10g.110812757A>CCA378373563RBM20c.2360A>C (p.Glu787Ala)
c.1976A>C (p.Glu659Ala)
c.2195A>C (p.Glu732Ala)
10g.110812757A>GCA378373565RBM20c.2360A>G (p.Glu787Gly)
c.1976A>G (p.Glu659Gly)
c.2195A>G (p.Glu732Gly)
ClinVar dbSNP
10g.110812757A>TCA378373566RBM20c.2360A>T (p.Glu787Val)
c.1976A>T (p.Glu659Val)
c.2195A>T (p.Glu732Val)
10g.110812758G>ACA471507011RBM20c.2361G>A (p.Glu787=)
c.1977G>A (p.Glu659=)
c.2196G>A (p.Glu732=)
10g.110812758G>CCA378373569RBM20c.2361G>C (p.Glu787Asp)
c.1977G>C (p.Glu659Asp)
c.2196G>C (p.Glu732Asp)
ClinVar
10g.110812758G>TCA378373568RBM20c.2361G>T (p.Glu787Asp)
c.1977G>T (p.Glu659Asp)
c.2196G>T (p.Glu732Asp)
10g.110812759G>ACA5688687RBM20c.2362G>A (p.Ala788Thr)
c.1978G>A (p.Ala660Thr)
c.2197G>A (p.Ala733Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812759G>CCA378373570RBM20c.2362G>C (p.Ala788Pro)
c.1978G>C (p.Ala660Pro)
c.2197G>C (p.Ala733Pro)
10g.110812759G>TCA5688686RBM20c.2362G>T (p.Ala788Ser)
c.1978G>T (p.Ala660Ser)
c.2197G>T (p.Ala733Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812760C>ACA378373572RBM20c.2363C>A (p.Ala788Asp)
c.1979C>A (p.Ala660Asp)
c.2198C>A (p.Ala733Asp)
10g.110812760C>GCA378373574RBM20c.2363C>G (p.Ala788Gly)
c.1979C>G (p.Ala660Gly)
c.2198C>G (p.Ala733Gly)
10g.110812760C>TCA378373575RBM20c.2363C>T (p.Ala788Val)
c.1979C>T (p.Ala660Val)
c.2198C>T (p.Ala733Val)
10g.110812761C>ACA471507022RBM20c.2364C>A (p.Ala788=)
c.1980C>A (p.Ala660=)
c.2199C>A (p.Ala733=)
10g.110812761C>GCA471507023RBM20c.2364C>G (p.Ala788=)
c.1980C>G (p.Ala660=)
c.2199C>G (p.Ala733=)
10g.110812761C>TCA471507024RBM20c.2364C>T (p.Ala788=)
c.1980C>T (p.Ala660=)
c.2199C>T (p.Ala733=)
10g.110812762A>CCA471507025RBM20c.2365A>C (p.Arg789=)
c.1981A>C (p.Arg661=)
c.2200A>C (p.Arg734=)
10g.110812762A>GCA378373576RBM20c.2365A>G (p.Arg789Gly)
c.1981A>G (p.Arg661Gly)
c.2200A>G (p.Arg734Gly)
dbSNP gnomAD v2 gnomAD v4
10g.110812762A>TCA378373577RBM20c.2365A>T (p.Arg789Trp)
c.1981A>T (p.Arg661Trp)
c.2200A>T (p.Arg734Trp)
10g.110812763G>ACA378373579RBM20c.2366G>A (p.Arg789Lys)
c.1982G>A (p.Arg661Lys)
c.2201G>A (p.Arg734Lys)
gnomAD v4
10g.110812763G>CCA378373581RBM20c.2366G>C (p.Arg789Thr)
c.1982G>C (p.Arg661Thr)
c.2201G>C (p.Arg734Thr)
10g.110812763G>TCA378373580RBM20c.2366G>T (p.Arg789Met)
c.1982G>T (p.Arg661Met)
c.2201G>T (p.Arg734Met)
10g.110812764G>ACA471507031RBM20c.2367G>A (p.Arg789=)
c.1983G>A (p.Arg661=)
c.2202G>A (p.Arg734=)
ClinVar
10g.110812764G>CCA378373587RBM20c.2367G>C (p.Arg789Ser)
c.1983G>C (p.Arg661Ser)
c.2202G>C (p.Arg734Ser)
10g.110812764G>TCA378373589RBM20c.2367G>T (p.Arg789Ser)
c.1983G>T (p.Arg661Ser)
c.2202G>T (p.Arg734Ser)
10g.110812765C>ACA378373591RBM20c.2368C>A (p.Leu790Met)
c.1984C>A (p.Leu662Met)
c.2203C>A (p.Leu735Met)
10g.110812765C>GCA378373594RBM20c.2368C>G (p.Leu790Val)
c.1984C>G (p.Leu662Val)
c.2203C>G (p.Leu735Val)
dbSNP gnomAD v3 gnomAD v4
10g.110812765C>TCA471507034RBM20c.2368C>T (p.Leu790=)
c.1984C>T (p.Leu662=)
c.2203C>T (p.Leu735=)
ClinVar gnomAD v4
10g.110812766T>ACA378373600RBM20c.2369T>A (p.Leu790Gln)
c.1985T>A (p.Leu662Gln)
c.2204T>A (p.Leu735Gln)
dbSNP gnomAD v2 gnomAD v4
10g.110812766T>CCA378373596RBM20c.2369T>C (p.Leu790Pro)
c.1985T>C (p.Leu662Pro)
c.2204T>C (p.Leu735Pro)
10g.110812766T>GCA378373598RBM20c.2369T>G (p.Leu790Arg)
c.1985T>G (p.Leu662Arg)
c.2204T>G (p.Leu735Arg)
gnomAD v4
10g.110812767G>ACA471507037RBM20c.2370G>A (p.Leu790=)
c.1986G>A (p.Leu662=)
c.2205G>A (p.Leu735=)
ClinVar
10g.110812767G>CCA471507038RBM20c.2370G>C (p.Leu790=)
c.1986G>C (p.Leu662=)
c.2205G>C (p.Leu735=)
10g.110812767G>TCA471507039RBM20c.2370G>T (p.Leu790=)
c.1986G>T (p.Leu662=)
c.2205G>T (p.Leu735=)
10g.110812768C>ACA471507041RBM20c.2371C>A (p.Arg791=)
c.1987C>A (p.Arg663=)
c.2206C>A (p.Arg736=)
10g.110812768C>GCA213224265RBM20c.2371C>G (p.Arg791Gly)
c.1987C>G (p.Arg663Gly)
c.2206C>G (p.Arg736Gly)
ClinVar dbSNP gnomAD v4
10g.110812768C>TCA213224276RBM20c.2371C>T (p.Arg791Trp)
c.1987C>T (p.Arg663Trp)
c.2206C>T (p.Arg736Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812769G>ACA213224285RBM20c.2372G>A (p.Arg791Gln)
c.1988G>A (p.Arg663Gln)
c.2207G>A (p.Arg736Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812769G>CCA378373608RBM20c.2372G>C (p.Arg791Pro)
c.1988G>C (p.Arg663Pro)
c.2207G>C (p.Arg736Pro)
dbSNP gnomAD v3 gnomAD v4
10g.110812769G>TCA5688688RBM20c.2372G>T (p.Arg791Leu)
c.1988G>T (p.Arg663Leu)
c.2207G>T (p.Arg736Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812771dupCA2574667537RBM20c.2374dup (p.Glu792GlyfsTer9)
c.1990dup (p.Glu664GlyfsTer9)
c.2209dup (p.Glu737GlyfsTer9)
ClinVar gnomAD v4
10g.110812771delCA2610892826RBM20c.2374del (p.Glu792LysfsTer?)
c.1990del (p.Glu664LysfsTer?)
c.2209del (p.Glu737LysfsTer?)
gnomAD v4
10g.110812770_110812771delCA2610892825RBM20c.2373_2374del (p.Glu792LysfsTer8)
c.1989_1990del (p.Glu664LysfsTer8)
c.2208_2209del (p.Glu737LysfsTer8)
gnomAD v4
10g.110812770G>ACA213224290RBM20c.2373G>A (p.Arg791=)
c.1989G>A (p.Arg663=)
c.2208G>A (p.Arg736=)
dbSNP
10g.110812770G>CCA471507044RBM20c.2373G>C (p.Arg791=)
c.1989G>C (p.Arg663=)
c.2208G>C (p.Arg736=)
10g.110812770G>TCA471507045RBM20c.2373G>T (p.Arg791=)
c.1989G>T (p.Arg663=)
c.2208G>T (p.Arg736=)
10g.110812771G>ACA378373612RBM20c.2374G>A (p.Glu792Lys)
c.1990G>A (p.Glu664Lys)
c.2209G>A (p.Glu737Lys)
ClinVar dbSNP
10g.110812771G>CCA378373613RBM20c.2374G>C (p.Glu792Gln)
c.1990G>C (p.Glu664Gln)
c.2209G>C (p.Glu737Gln)
10g.110812771G>TCA378373614RBM20c.2374G>T (p.Glu792Ter)
c.1990G>T (p.Glu664Ter)
c.2209G>T (p.Glu737Ter)
10g.110812772A>CCA378373615RBM20c.2375A>C (p.Glu792Ala)
c.1991A>C (p.Glu664Ala)
c.2210A>C (p.Glu737Ala)
10g.110812772A>GCA378373617RBM20c.2375A>G (p.Glu792Gly)
c.1991A>G (p.Glu664Gly)
c.2210A>G (p.Glu737Gly)
10g.110812772A>TCA378373618RBM20c.2375A>T (p.Glu792Val)
c.1991A>T (p.Glu664Val)
c.2210A>T (p.Glu737Val)
10g.110812773A>CCA378373621RBM20c.2376A>C (p.Glu792Asp)
c.1992A>C (p.Glu664Asp)
c.2211A>C (p.Glu737Asp)
10g.110812773A>GCA471507049RBM20c.2376A>G (p.Glu792=)
c.1992A>G (p.Glu664=)
c.2211A>G (p.Glu737=)
10g.110812773A>TCA378373623RBM20c.2376A>T (p.Glu792Asp)
c.1992A>T (p.Glu664Asp)
c.2211A>T (p.Glu737Asp)
10g.110812774A>CCA378373624RBM20c.2377A>C (p.Ser793Arg)
c.1993A>C (p.Ser665Arg)
c.2212A>C (p.Ser738Arg)
10g.110812774A>GCA378373626RBM20c.2377A>G (p.Ser793Gly)
c.1993A>G (p.Ser665Gly)
c.2212A>G (p.Ser738Gly)
10g.110812774A>TCA378373625RBM20c.2377A>T (p.Ser793Cys)
c.1993A>T (p.Ser665Cys)
c.2212A>T (p.Ser738Cys)
10g.110812775G>ACA378373627RBM20c.2378G>A (p.Ser793Asn)
c.1994G>A (p.Ser665Asn)
c.2213G>A (p.Ser738Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812775G>CCA378373629RBM20c.2378G>C (p.Ser793Thr)
c.1994G>C (p.Ser665Thr)
c.2213G>C (p.Ser738Thr)
10g.110812775G>TCA378373631RBM20c.2378G>T (p.Ser793Ile)
c.1994G>T (p.Ser665Ile)
c.2213G>T (p.Ser738Ile)
10g.110812776C>ACA378373635RBM20c.2379C>A (p.Ser793Arg)
c.1995C>A (p.Ser665Arg)
c.2214C>A (p.Ser738Arg)
10g.110812776C>GCA378373639RBM20c.2379C>G (p.Ser793Arg)
c.1995C>G (p.Ser665Arg)
c.2214C>G (p.Ser738Arg)
10g.110812776C>TCA471507052RBM20c.2379C>T (p.Ser793=)
c.1995C>T (p.Ser665=)
c.2214C>T (p.Ser738=)
10g.110812777A>CCA471507055RBM20c.2380A>C (p.Arg794=)
c.1996A>C (p.Arg666=)
c.2215A>C (p.Arg739=)
10g.110812777A>GCA378373641RBM20c.2380A>G (p.Arg794Gly)
c.1996A>G (p.Arg666Gly)
c.2215A>G (p.Arg739Gly)
10g.110812777A>TCA378373642RBM20c.2380A>T (p.Arg794Ter)
c.1996A>T (p.Arg666Ter)
c.2215A>T (p.Arg739Ter)
10g.110812778G>ACA213224295RBM20c.2381G>A (p.Arg794Lys)
c.1997G>A (p.Arg666Lys)
c.2216G>A (p.Arg739Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812778G>CCA378373644RBM20c.2381G>C (p.Arg794Thr)
c.1997G>C (p.Arg666Thr)
c.2216G>C (p.Arg739Thr)
ClinVar dbSNP
10g.110812778G>TCA378373663RBM20c.2381G>T (p.Arg794Ile)
c.1997G>T (p.Arg666Ile)
c.2216G>T (p.Arg739Ile)
10g.110812779A>CCA213224300RBM20c.2382A>C (p.Arg794Ser)
c.1998A>C (p.Arg666Ser)
c.2217A>C (p.Arg739Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812779A>GCA471507061RBM20c.2382A>G (p.Arg794=)
c.1998A>G (p.Arg666=)
c.2217A>G (p.Arg739=)
ClinVar dbSNP gnomAD v4
10g.110812779A>TCA378373667RBM20c.2382A>T (p.Arg794Ser)
c.1998A>T (p.Arg666Ser)
c.2217A>T (p.Arg739Ser)
10g.110812779_110812790dupCA932526958RBM20c.2382_2393dup (p.Pro798_Asp799insHisProHisPro)
c.1998_2009dup (p.Pro670_Asp671insHisProHisPro)
c.2217_2228dup (p.Pro743_Asp744insHisProHisPro)
dbSNP gnomAD v3 gnomAD v4
10g.110812780C>ACA378373675RBM20c.2383C>A (p.His795Asn)
c.1999C>A (p.His667Asn)
c.2218C>A (p.His740Asn)
ClinVar dbSNP gnomAD v4
10g.110812780C>GCA378373673RBM20c.2383C>G (p.His795Asp)
c.1999C>G (p.His667Asp)
c.2218C>G (p.His740Asp)
10g.110812780C>TCA378373670RBM20c.2383C>T (p.His795Tyr)
c.1999C>T (p.His667Tyr)
c.2218C>T (p.His740Tyr)
10g.110812781A>CCA378373679RBM20c.2384A>C (p.His795Pro)
c.2000A>C (p.His667Pro)
c.2219A>C (p.His740Pro)
dbSNP
10g.110812781A>GCA378373682RBM20c.2384A>G (p.His795Arg)
c.2000A>G (p.His667Arg)
c.2219A>G (p.His740Arg)
10g.110812781A>TCA378373685RBM20c.2384A>T (p.His795Leu)
c.2000A>T (p.His667Leu)
c.2219A>T (p.His740Leu)
gnomAD v4

Number of alleles fetched