Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.110812782C>ACA378373687RBM20c.2385C>A (p.His795Gln)
c.2001C>A (p.His667Gln)
c.2220C>A (p.His740Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812782C>GCA378373688RBM20c.2385C>G (p.His795Gln)
c.2001C>G (p.His667Gln)
c.2220C>G (p.His740Gln)
10g.110812782C>TCA5688689RBM20c.2385C>T (p.His795=)
c.2001C>T (p.His667=)
c.2220C>T (p.His740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812786delCA471507071RBM20c.2389del (p.His797IlefsTer?)
c.2005del (p.His669IlefsTer?)
c.2224del (p.His742IlefsTer?)
 COSMIC
10g.110812783C>ACA378373693RBM20c.2386C>A (p.Pro796Thr)
c.2002C>A (p.Pro668Thr)
c.2221C>A (p.Pro741Thr)
 gnomAD v4
10g.110812783C>GCA378373695RBM20c.2386C>G (p.Pro796Ala)
c.2002C>G (p.Pro668Ala)
c.2221C>G (p.Pro741Ala)
10g.110812783C>TCA378373698RBM20c.2386C>T (p.Pro796Ser)
c.2002C>T (p.Pro668Ser)
c.2221C>T (p.Pro741Ser)
10g.110812785_110812790dupCA471507072RBM20c.2388_2393dup (p.Pro798_Asp799insHisPro)
c.2004_2009dup (p.Pro670_Asp671insHisPro)
c.2223_2228dup (p.Pro743_Asp744insHisPro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812784C>ACA378373702RBM20c.2387C>A (p.Pro796His)
c.2003C>A (p.Pro668His)
c.2222C>A (p.Pro741His)
10g.110812784C>GCA378373705RBM20c.2387C>G (p.Pro796Arg)
c.2003C>G (p.Pro668Arg)
c.2222C>G (p.Pro741Arg)
10g.110812784C>TCA378373707RBM20c.2387C>T (p.Pro796Leu)
c.2003C>T (p.Pro668Leu)
c.2222C>T (p.Pro741Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.110812785C>ACA471507077RBM20c.2388C>A (p.Pro796=)
c.2004C>A (p.Pro668=)
c.2223C>A (p.Pro741=)
 gnomAD v4
10g.110812785C>GCA16605806RBM20c.2388C>G (p.Pro796=)
c.2004C>G (p.Pro668=)
c.2223C>G (p.Pro741=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812785C>TCA471507079RBM20c.2388C>T (p.Pro796=)
c.2004C>T (p.Pro668=)
c.2223C>T (p.Pro741=)
 gnomAD v4
10g.110812786C>ACA378373710RBM20c.2389C>A (p.His797Asn)
c.2005C>A (p.His669Asn)
c.2224C>A (p.His742Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812786C>GCA378373713RBM20c.2389C>G (p.His797Asp)
c.2005C>G (p.His669Asp)
c.2224C>G (p.His742Asp)
10g.110812786C>TCA378373712RBM20c.2389C>T (p.His797Tyr)
c.2005C>T (p.His669Tyr)
c.2224C>T (p.His742Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.110812787A>CCA378373714RBM20c.2390A>C (p.His797Pro)
c.2006A>C (p.His669Pro)
c.2225A>C (p.His742Pro)
10g.110812787A>GCA378373716RBM20c.2390A>G (p.His797Arg)
c.2006A>G (p.His669Arg)
c.2225A>G (p.His742Arg)
 dbSNP gnomAD v4
10g.110812787A>TCA378373715RBM20c.2390A>T (p.His797Leu)
c.2006A>T (p.His669Leu)
c.2225A>T (p.His742Leu)
 ClinVar
10g.110812788T>ACA378373719RBM20c.2391T>A (p.His797Gln)
c.2007T>A (p.His669Gln)
c.2226T>A (p.His742Gln)
10g.110812788T>CCA471507086RBM20c.2391T>C (p.His797=)
c.2007T>C (p.His669=)
c.2226T>C (p.His742=)
10g.110812788T>GCA378373721RBM20c.2391T>G (p.His797Gln)
c.2007T>G (p.His669Gln)
c.2226T>G (p.His742Gln)
10g.110812789C>ACA378373723RBM20c.2392C>A (p.Pro798Thr)
c.2008C>A (p.Pro670Thr)
c.2227C>A (p.Pro743Thr)
10g.110812789C>GCA378373725RBM20c.2392C>G (p.Pro798Ala)
c.2008C>G (p.Pro670Ala)
c.2227C>G (p.Pro743Ala)
10g.110812789C>TCA378373727RBM20c.2392C>T (p.Pro798Ser)
c.2008C>T (p.Pro670Ser)
c.2227C>T (p.Pro743Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.110812790C>ACA378373730RBM20c.2393C>A (p.Pro798Gln)
c.2009C>A (p.Pro670Gln)
c.2228C>A (p.Pro743Gln)
10g.110812790C>GCA378373733RBM20c.2393C>G (p.Pro798Arg)
c.2009C>G (p.Pro670Arg)
c.2228C>G (p.Pro743Arg)
10g.110812790C>TCA346601RBM20c.2393C>T (p.Pro798Leu)
c.2009C>T (p.Pro670Leu)
c.2228C>T (p.Pro743Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812791G>ACA213224318RBM20c.2394G>A (p.Pro798=)
c.2010G>A (p.Pro670=)
c.2229G>A (p.Pro743=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.110812791G>CCA471507088RBM20c.2394G>C (p.Pro798=)
c.2010G>C (p.Pro670=)
c.2229G>C (p.Pro743=)
 dbSNP
10g.110812791G>TCA471507089RBM20c.2394G>T (p.Pro798=)
c.2010G>T (p.Pro670=)
c.2229G>T (p.Pro743=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812792G>ACA378373742RBM20c.2395G>A (p.Asp799Asn)
c.2011G>A (p.Asp671Asn)
c.2230G>A (p.Asp744Asn)
10g.110812792G>CCA378373743RBM20c.2395G>C (p.Asp799His)
c.2011G>C (p.Asp671His)
c.2230G>C (p.Asp744His)
10g.110812792G>TCA378373747RBM20c.2395G>T (p.Asp799Tyr)
c.2011G>T (p.Asp671Tyr)
c.2230G>T (p.Asp744Tyr)
 ClinVar
10g.110812792_110812793delinsTTCA2825001682RBM20c.2395_2396delinsTT (p.Asp799Phe)
c.2011_2012delinsTT (p.Asp671Phe)
c.2230_2231delinsTT (p.Asp744Phe)
 ClinVar
10g.110812793A>CCA378373760RBM20c.2396A>C (p.Asp799Ala)
c.2012A>C (p.Asp671Ala)
c.2231A>C (p.Asp744Ala)
10g.110812793A>GCA378373752RBM20c.2396A>G (p.Asp799Gly)
c.2012A>G (p.Asp671Gly)
c.2231A>G (p.Asp744Gly)
 ClinVar gnomAD v4
10g.110812793A>TCA378373754RBM20c.2396A>T (p.Asp799Val)
c.2012A>T (p.Asp671Val)
c.2231A>T (p.Asp744Val)
 ClinVar
10g.110812794T>ACA378373764RBM20c.2397T>A (p.Asp799Glu)
c.2013T>A (p.Asp671Glu)
c.2232T>A (p.Asp744Glu)
10g.110812794T>CCA471507094RBM20c.2397T>C (p.Asp799=)
c.2013T>C (p.Asp671=)
c.2232T>C (p.Asp744=)
10g.110812794T>GCA378373768RBM20c.2397T>G (p.Asp799Glu)
c.2013T>G (p.Asp671Glu)
c.2232T>G (p.Asp744Glu)
10g.110812795G>ACA378373771RBM20c.2398G>A (p.Asp800Asn)
c.2014G>A (p.Asp672Asn)
c.2233G>A (p.Asp745Asn)
 ClinVar gnomAD v4
10g.110812795G>CCA378373775RBM20c.2398G>C (p.Asp800His)
c.2014G>C (p.Asp672His)
c.2233G>C (p.Asp745His)
10g.110812795G>TCA378373777RBM20c.2398G>T (p.Asp800Tyr)
c.2014G>T (p.Asp672Tyr)
c.2233G>T (p.Asp745Tyr)
10g.110812796A>CCA378373781RBM20c.2399A>C (p.Asp800Ala)
c.2015A>C (p.Asp672Ala)
c.2234A>C (p.Asp745Ala)
10g.110812796A>GCA378373784RBM20c.2399A>G (p.Asp800Gly)
c.2015A>G (p.Asp672Gly)
c.2234A>G (p.Asp745Gly)
10g.110812796A>TCA378373786RBM20c.2399A>T (p.Asp800Val)
c.2015A>T (p.Asp672Val)
c.2234A>T (p.Asp745Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812797C>ACA378373787RBM20c.2400C>A (p.Asp800Glu)
c.2016C>A (p.Asp672Glu)
c.2235C>A (p.Asp745Glu)
10g.110812797C>GCA378373790RBM20c.2400C>G (p.Asp800Glu)
c.2016C>G (p.Asp672Glu)
c.2235C>G (p.Asp745Glu)
10g.110812797C>TCA471507098RBM20c.2400C>T (p.Asp800=)
c.2016C>T (p.Asp672=)
c.2235C>T (p.Asp745=)
10g.110812798T>ACA378373799RBM20c.2401T>A (p.Ser801Thr)
c.2017T>A (p.Ser673Thr)
c.2236T>A (p.Ser746Thr)
10g.110812798T>CCA378373797RBM20c.2401T>C (p.Ser801Pro)
c.2017T>C (p.Ser673Pro)
c.2236T>C (p.Ser746Pro)
10g.110812798T>GCA378373794RBM20c.2401T>G (p.Ser801Ala)
c.2017T>G (p.Ser673Ala)
c.2236T>G (p.Ser746Ala)
10g.110812799delCA2789485003RBM20c.2402del (p.Ser801Ter)
c.2018del (p.Ser673Ter)
c.2237del (p.Ser746Ter)
10g.110812799C>ACA378373802RBM20c.2402C>A (p.Ser801Ter)
c.2018C>A (p.Ser673Ter)
c.2237C>A (p.Ser746Ter)
10g.110812799C>GCA378373804RBM20c.2402C>G (p.Ser801Ter)
c.2018C>G (p.Ser673Ter)
c.2237C>G (p.Ser746Ter)
10g.110812799C>TCA378373807RBM20c.2402C>T (p.Ser801Leu)
c.2018C>T (p.Ser673Leu)
c.2237C>T (p.Ser746Leu)
10g.110812800A>CCA471507101RBM20c.2403A>C (p.Ser801=)
c.2019A>C (p.Ser673=)
c.2238A>C (p.Ser746=)
10g.110812800A>GCA471507102RBM20c.2403A>G (p.Ser801=)
c.2019A>G (p.Ser673=)
c.2238A>G (p.Ser746=)
 gnomAD v4
10g.110812800A>TCA471507103RBM20c.2403A>T (p.Ser801=)
c.2019A>T (p.Ser673=)
c.2238A>T (p.Ser746=)
10g.110812801G>ACA378373811RBM20c.2404G>A (p.Gly802Ser)
c.2020G>A (p.Gly674Ser)
c.2239G>A (p.Gly747Ser)
10g.110812801G>CCA378373813RBM20c.2404G>C (p.Gly802Arg)
c.2020G>C (p.Gly674Arg)
c.2239G>C (p.Gly747Arg)
10g.110812801G>TCA378373815RBM20c.2404G>T (p.Gly802Cys)
c.2020G>T (p.Gly674Cys)
c.2239G>T (p.Gly747Cys)
10g.110812802G>ACA378373818RBM20c.2405G>A (p.Gly802Asp)
c.2021G>A (p.Gly674Asp)
c.2240G>A (p.Gly747Asp)
10g.110812802G>CCA378373825RBM20c.2405G>C (p.Gly802Ala)
c.2021G>C (p.Gly674Ala)
c.2240G>C (p.Gly747Ala)
10g.110812802G>TCA378373826RBM20c.2405G>T (p.Gly802Val)
c.2021G>T (p.Gly674Val)
c.2240G>T (p.Gly747Val)
10g.110812803C>ACA471507109RBM20c.2406C>A (p.Gly802=)
c.2022C>A (p.Gly674=)
c.2241C>A (p.Gly747=)
10g.110812803C>GCA471507110RBM20c.2406C>G (p.Gly802=)
c.2022C>G (p.Gly674=)
c.2241C>G (p.Gly747=)
10g.110812803C>TCA471507111RBM20c.2406C>T (p.Gly802=)
c.2022C>T (p.Gly674=)
c.2241C>T (p.Gly747=)
10g.110812804A>CCA378373829RBM20c.2407A>C (p.Lys803Gln)
c.2023A>C (p.Lys675Gln)
c.2242A>C (p.Lys748Gln)
10g.110812804A>GCA378373832RBM20c.2407A>G (p.Lys803Glu)
c.2023A>G (p.Lys675Glu)
c.2242A>G (p.Lys748Glu)
 gnomAD v4
10g.110812804A>TCA378373835RBM20c.2407A>T (p.Lys803Ter)
c.2023A>T (p.Lys675Ter)
c.2242A>T (p.Lys748Ter)
10g.110812805A>CCA378373844RBM20c.2408A>C (p.Lys803Thr)
c.2024A>C (p.Lys675Thr)
c.2243A>C (p.Lys748Thr)
10g.110812805A>GCA378373841RBM20c.2408A>G (p.Lys803Arg)
c.2024A>G (p.Lys675Arg)
c.2243A>G (p.Lys748Arg)
10g.110812805A>TCA378373838RBM20c.2408A>T (p.Lys803Met)
c.2024A>T (p.Lys675Met)
c.2243A>T (p.Lys748Met)
10g.110812806G>ACA471507115RBM20c.2409G>A (p.Lys803=)
c.2025G>A (p.Lys675=)
c.2244G>A (p.Lys748=)
10g.110812806G>CCA378373847RBM20c.2409G>C (p.Lys803Asn)
c.2025G>C (p.Lys675Asn)
c.2244G>C (p.Lys748Asn)
10g.110812806G>TCA378373850RBM20c.2409G>T (p.Lys803Asn)
c.2025G>T (p.Lys675Asn)
c.2244G>T (p.Lys748Asn)
10g.110812807G>ACA213224349RBM20c.2410G>A (p.Glu804Lys)
c.2026G>A (p.Glu676Lys)
c.2245G>A (p.Glu749Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812807G>CCA378373853RBM20c.2410G>C (p.Glu804Gln)
c.2026G>C (p.Glu676Gln)
c.2245G>C (p.Glu749Gln)
10g.110812807G>TCA378373856RBM20c.2410G>T (p.Glu804Ter)
c.2026G>T (p.Glu676Ter)
c.2245G>T (p.Glu749Ter)
10g.110812808A>CCA378373858RBM20c.2411A>C (p.Glu804Ala)
c.2027A>C (p.Glu676Ala)
c.2246A>C (p.Glu749Ala)
10g.110812808A>GCA378373861RBM20c.2411A>G (p.Glu804Gly)
c.2027A>G (p.Glu676Gly)
c.2246A>G (p.Glu749Gly)
10g.110812808A>TCA378373862RBM20c.2411A>T (p.Glu804Val)
c.2027A>T (p.Glu676Val)
c.2246A>T (p.Glu749Val)
10g.110812809A>CCA378373867RBM20c.2412A>C (p.Glu804Asp)
c.2028A>C (p.Glu676Asp)
c.2247A>C (p.Glu749Asp)
10g.110812809A>GCA471507116RBM20c.2412A>G (p.Glu804=)
c.2028A>G (p.Glu676=)
c.2247A>G (p.Glu749=)
10g.110812809A>TCA378373870RBM20c.2412A>T (p.Glu804Asp)
c.2028A>T (p.Glu676Asp)
c.2247A>T (p.Glu749Asp)
10g.110812810G>ACA378373874RBM20c.2413G>A (p.Asp805Asn)
c.2029G>A (p.Asp677Asn)
c.2248G>A (p.Asp750Asn)
10g.110812810G>CCA378373876RBM20c.2413G>C (p.Asp805His)
c.2029G>C (p.Asp677His)
c.2248G>C (p.Asp750His)
10g.110812810G>TCA378373878RBM20c.2413G>T (p.Asp805Tyr)
c.2029G>T (p.Asp677Tyr)
c.2248G>T (p.Asp750Tyr)
10g.110812811A>CCA378373887RBM20c.2414A>C (p.Asp805Ala)
c.2030A>C (p.Asp677Ala)
c.2249A>C (p.Asp750Ala)
10g.110812811A>GCA378373898RBM20c.2414A>G (p.Asp805Gly)
c.2030A>G (p.Asp677Gly)
c.2249A>G (p.Asp750Gly)
10g.110812811A>TCA378373884RBM20c.2414A>T (p.Asp805Val)
c.2030A>T (p.Asp677Val)
c.2249A>T (p.Asp750Val)
 ClinVar dbSNP
10g.110812812T>ACA378373904RBM20c.2415T>A (p.Asp805Glu)
c.2031T>A (p.Asp677Glu)
c.2250T>A (p.Asp750Glu)
10g.110812812T>CCA471507119RBM20c.2415T>C (p.Asp805=)
c.2031T>C (p.Asp677=)
c.2250T>C (p.Asp750=)
 gnomAD v4
10g.110812812T>GCA378373902RBM20c.2415T>G (p.Asp805Glu)
c.2031T>G (p.Asp677Glu)
c.2250T>G (p.Asp750Glu)
10g.110812813G>ACA5688690RBM20c.2416G>A (p.Gly806Arg)
c.2032G>A (p.Gly678Arg)
c.2251G>A (p.Gly751Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812813G>CCA378373910RBM20c.2416G>C (p.Gly806Arg)
c.2032G>C (p.Gly678Arg)
c.2251G>C (p.Gly751Arg)
10g.110812813G>TCA378373912RBM20c.2416G>T (p.Gly806Trp)
c.2032G>T (p.Gly678Trp)
c.2251G>T (p.Gly751Trp)
10g.110812814G>ACA378373913RBM20c.2417G>A (p.Gly806Glu)
c.2033G>A (p.Gly678Glu)
c.2252G>A (p.Gly751Glu)
10g.110812814G>CCA378373914RBM20c.2417G>C (p.Gly806Ala)
c.2033G>C (p.Gly678Ala)
c.2252G>C (p.Gly751Ala)
10g.110812814G>TCA378373915RBM20c.2417G>T (p.Gly806Val)
c.2033G>T (p.Gly678Val)
c.2252G>T (p.Gly751Val)
10g.110812815G>ACA471507126RBM20c.2418G>A (p.Gly806=)
c.2034G>A (p.Gly678=)
c.2253G>A (p.Gly751=)
 gnomAD v4
10g.110812815G>CCA471507127RBM20c.2418G>C (p.Gly806=)
c.2034G>C (p.Gly678=)
c.2253G>C (p.Gly751=)
10g.110812815G>TCA471507125RBM20c.2418G>T (p.Gly806=)
c.2034G>T (p.Gly678=)
c.2253G>T (p.Gly751=)
 ClinVar dbSNP gnomAD v4
10g.110812816C>ACA378373919RBM20c.2419C>A (p.Leu807Met)
c.2035C>A (p.Leu679Met)
c.2254C>A (p.Leu752Met)
10g.110812816C>GCA378373917RBM20c.2419C>G (p.Leu807Val)
c.2035C>G (p.Leu679Val)
c.2254C>G (p.Leu752Val)
10g.110812816C>TCA471507128RBM20c.2419C>T (p.Leu807=)
c.2035C>T (p.Leu679=)
c.2254C>T (p.Leu752=)
 dbSNP
10g.110812817T>ACA378373923RBM20c.2420T>A (p.Leu807Gln)
c.2036T>A (p.Leu679Gln)
c.2255T>A (p.Leu752Gln)
10g.110812817T>CCA378373926RBM20c.2420T>C (p.Leu807Pro)
c.2036T>C (p.Leu679Pro)
c.2255T>C (p.Leu752Pro)
10g.110812817T>GCA378373929RBM20c.2420T>G (p.Leu807Arg)
c.2036T>G (p.Leu679Arg)
c.2255T>G (p.Leu752Arg)
10g.110812818G>ACA471507132RBM20c.2421G>A (p.Leu807=)
c.2037G>A (p.Leu679=)
c.2256G>A (p.Leu752=)
10g.110812818G>CCA471507134RBM20c.2421G>C (p.Leu807=)
c.2037G>C (p.Leu679=)
c.2256G>C (p.Leu752=)
10g.110812818G>TCA471507135RBM20c.2421G>T (p.Leu807=)
c.2037G>T (p.Leu679=)
c.2256G>T (p.Leu752=)
 dbSNP
10g.110812819G>ACA378373931RBM20c.2422G>A (p.Gly808Arg)
c.2038G>A (p.Gly680Arg)
c.2257G>A (p.Gly753Arg)
10g.110812819G>CCA378373933RBM20c.2422G>C (p.Gly808Arg)
c.2038G>C (p.Gly680Arg)
c.2257G>C (p.Gly753Arg)
10g.110812819G>TCA378373935RBM20c.2422G>T (p.Gly808Trp)
c.2038G>T (p.Gly680Trp)
c.2257G>T (p.Gly753Trp)
 ClinVar dbSNP
10g.110812820G>ACA378373937RBM20c.2423G>A (p.Gly808Glu)
c.2039G>A (p.Gly680Glu)
c.2258G>A (p.Gly753Glu)
 gnomAD v4
10g.110812820G>CCA378373945RBM20c.2423G>C (p.Gly808Ala)
c.2039G>C (p.Gly680Ala)
c.2258G>C (p.Gly753Ala)
10g.110812820G>TCA378373941RBM20c.2423G>T (p.Gly808Val)
c.2039G>T (p.Gly680Val)
c.2258G>T (p.Gly753Val)
10g.110812821G>ACA471507139RBM20c.2424G>A (p.Gly808=)
c.2040G>A (p.Gly680=)
c.2259G>A (p.Gly753=)
10g.110812821G>CCA471507141RBM20c.2424G>C (p.Gly808=)
c.2040G>C (p.Gly680=)
c.2259G>C (p.Gly753=)
10g.110812821G>TCA471507142RBM20c.2424G>T (p.Gly808=)
c.2040G>T (p.Gly680=)
c.2259G>T (p.Gly753=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812822C>ACA378373948RBM20c.2425C>A (p.Pro809Thr)
c.2041C>A (p.Pro681Thr)
c.2260C>A (p.Pro754Thr)
10g.110812822C>GCA378373951RBM20c.2425C>G (p.Pro809Ala)
c.2041C>G (p.Pro681Ala)
c.2260C>G (p.Pro754Ala)
 gnomAD v4
10g.110812822C>TCA378373952RBM20c.2425C>T (p.Pro809Ser)
c.2041C>T (p.Pro681Ser)
c.2260C>T (p.Pro754Ser)
 gnomAD v4
10g.110812823C>ACA378373960RBM20c.2426C>A (p.Pro809Gln)
c.2042C>A (p.Pro681Gln)
c.2261C>A (p.Pro754Gln)
10g.110812823C>GCA378373963RBM20c.2426C>G (p.Pro809Arg)
c.2042C>G (p.Pro681Arg)
c.2261C>G (p.Pro754Arg)
10g.110812823C>TCA378373965RBM20c.2426C>T (p.Pro809Leu)
c.2042C>T (p.Pro681Leu)
c.2261C>T (p.Pro754Leu)
10g.110812824A>CCA471507143RBM20c.2427A>C (p.Pro809=)
c.2043A>C (p.Pro681=)
c.2262A>C (p.Pro754=)
10g.110812824A>GCA213224353RBM20c.2427A>G (p.Pro809=)
c.2043A>G (p.Pro681=)
c.2262A>G (p.Pro754=)
 ClinVar dbSNP gnomAD v4
10g.110812824A>TCA471507145RBM20c.2427A>T (p.Pro809=)
c.2043A>T (p.Pro681=)
c.2262A>T (p.Pro754=)
10g.110812825A>CCA378373968RBM20c.2428A>C (p.Lys810Gln)
c.2044A>C (p.Lys682Gln)
c.2263A>C (p.Lys755Gln)
10g.110812825A>GCA5688691RBM20c.2428A>G (p.Lys810Glu)
c.2044A>G (p.Lys682Glu)
c.2263A>G (p.Lys755Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812825A>TCA378373971RBM20c.2428A>T (p.Lys810Ter)
c.2044A>T (p.Lys682Ter)
c.2263A>T (p.Lys755Ter)
10g.110812826A>CCA378373973RBM20c.2429A>C (p.Lys810Thr)
c.2045A>C (p.Lys682Thr)
c.2264A>C (p.Lys755Thr)
10g.110812826A>GCA378373975RBM20c.2429A>G (p.Lys810Arg)
c.2045A>G (p.Lys682Arg)
c.2264A>G (p.Lys755Arg)
10g.110812826A>TCA378373978RBM20c.2429A>T (p.Lys810Met)
c.2045A>T (p.Lys682Met)
c.2264A>T (p.Lys755Met)
10g.110812827G>ACA471507151RBM20c.2430G>A (p.Lys810=)
c.2046G>A (p.Lys682=)
c.2265G>A (p.Lys755=)
10g.110812827G>CCA378373982RBM20c.2430G>C (p.Lys810Asn)
c.2046G>C (p.Lys682Asn)
c.2265G>C (p.Lys755Asn)
10g.110812827G>TCA378373983RBM20c.2430G>T (p.Lys810Asn)
c.2046G>T (p.Lys682Asn)
c.2265G>T (p.Lys755Asn)
10g.110812828G>ACA378373985RBM20c.2431G>A (p.Val811Ile)
c.2047G>A (p.Val683Ile)
c.2266G>A (p.Val756Ile)
10g.110812828G>CCA378373988RBM20c.2431G>C (p.Val811Leu)
c.2047G>C (p.Val683Leu)
c.2266G>C (p.Val756Leu)
10g.110812828G>TCA378373991RBM20c.2431G>T (p.Val811Phe)
c.2047G>T (p.Val683Phe)
c.2266G>T (p.Val756Phe)
10g.110812829T>ACA378373994RBM20c.2432T>A (p.Val811Asp)
c.2048T>A (p.Val683Asp)
c.2267T>A (p.Val756Asp)
10g.110812829T>CCA378373997RBM20c.2432T>C (p.Val811Ala)
c.2048T>C (p.Val683Ala)
c.2267T>C (p.Val756Ala)
10g.110812829T>GCA378374000RBM20c.2432T>G (p.Val811Gly)
c.2048T>G (p.Val683Gly)
c.2267T>G (p.Val756Gly)
10g.110812830C>ACA471507158RBM20c.2433C>A (p.Val811=)
c.2049C>A (p.Val683=)
c.2268C>A (p.Val756=)
 gnomAD v4
10g.110812830C>GCA471507159RBM20c.2433C>G (p.Val811=)
c.2049C>G (p.Val683=)
c.2268C>G (p.Val756=)
10g.110812830C>TCA471507160RBM20c.2433C>T (p.Val811=)
c.2049C>T (p.Val683=)
c.2268C>T (p.Val756=)
10g.110812831A>CCA378374008RBM20c.2434A>C (p.Thr812Pro)
c.2050A>C (p.Thr684Pro)
c.2269A>C (p.Thr757Pro)
 ClinVar dbSNP
10g.110812831A>GCA378374006RBM20c.2434A>G (p.Thr812Ala)
c.2050A>G (p.Thr684Ala)
c.2269A>G (p.Thr757Ala)
 gnomAD v4
10g.110812831A>TCA378374004RBM20c.2434A>T (p.Thr812Ser)
c.2050A>T (p.Thr684Ser)
c.2269A>T (p.Thr757Ser)
 ClinVar dbSNP gnomAD v4
10g.110812832C>ACA378374012RBM20c.2435C>A (p.Thr812Asn)
c.2051C>A (p.Thr684Asn)
c.2270C>A (p.Thr757Asn)
10g.110812832C>GCA378374014RBM20c.2435C>G (p.Thr812Ser)
c.2051C>G (p.Thr684Ser)
c.2270C>G (p.Thr757Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.110812832C>TCA378374024RBM20c.2435C>T (p.Thr812Ile)
c.2051C>T (p.Thr684Ile)
c.2270C>T (p.Thr757Ile)
 ClinVar
10g.110812833_110812839delCA658797539RBM20c.2436_2442del (p.Arg813LeufsTer?)
c.2052_2058del (p.Arg685LeufsTer?)
c.2271_2277del (p.Arg758LeufsTer?)
 ClinVar dbSNP
10g.110812833T>ACA5688692RBM20c.2436T>A (p.Thr812=)
c.2052T>A (p.Thr684=)
c.2271T>A (p.Thr757=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812833T>CCA471507163RBM20c.2436T>C (p.Thr812=)
c.2052T>C (p.Thr684=)
c.2271T>C (p.Thr757=)
10g.110812833T>GCA471507166RBM20c.2436T>G (p.Thr812=)
c.2052T>G (p.Thr684=)
c.2271T>G (p.Thr757=)
10g.110812834delCA2574667569RBM20c.2437del (p.Arg813GlyfsTer?)
c.2053del (p.Arg685GlyfsTer?)
c.2272del (p.Arg758GlyfsTer?)
10g.110812834A>CCA471507167RBM20c.2437A>C (p.Arg813=)
c.2053A>C (p.Arg685=)
c.2272A>C (p.Arg758=)
10g.110812834A>GCA378374032RBM20c.2437A>G (p.Arg813Gly)
c.2053A>G (p.Arg685Gly)
c.2272A>G (p.Arg758Gly)
 ClinVar dbSNP
10g.110812834A>TCA378374036RBM20c.2437A>T (p.Arg813Trp)
c.2053A>T (p.Arg685Trp)
c.2272A>T (p.Arg758Trp)
10g.110812835G>ACA378374040RBM20c.2438G>A (p.Arg813Lys)
c.2054G>A (p.Arg685Lys)
c.2273G>A (p.Arg758Lys)
 gnomAD v4
10g.110812835G>CCA378374045RBM20c.2438G>C (p.Arg813Thr)
c.2054G>C (p.Arg685Thr)
c.2273G>C (p.Arg758Thr)
10g.110812835G>TCA378374043RBM20c.2438G>T (p.Arg813Met)
c.2054G>T (p.Arg685Met)
c.2273G>T (p.Arg758Met)
10g.110812836G>ACA471507174RBM20c.2439G>A (p.Arg813=)
c.2055G>A (p.Arg685=)
c.2274G>A (p.Arg758=)
10g.110812836G>CCA378374049RBM20c.2439G>C (p.Arg813Ser)
c.2055G>C (p.Arg685Ser)
c.2274G>C (p.Arg758Ser)
10g.110812836G>TCA378374051RBM20c.2439G>T (p.Arg813Ser)
c.2055G>T (p.Arg685Ser)
c.2274G>T (p.Arg758Ser)
10g.110812837G>ACA378374054RBM20c.2440G>A (p.Ala814Thr)
c.2056G>A (p.Ala686Thr)
c.2275G>A (p.Ala759Thr)
10g.110812837G>CCA378374057RBM20c.2440G>C (p.Ala814Pro)
c.2056G>C (p.Ala686Pro)
c.2275G>C (p.Ala759Pro)
10g.110812837G>TCA378374059RBM20c.2440G>T (p.Ala814Ser)
c.2056G>T (p.Ala686Ser)
c.2275G>T (p.Ala759Ser)
10g.110812840_110812851delCA2573145562RBM20c.2443_2454del (p.Pro815_Ala818del)
c.2059_2070del (p.Pro687_Ala690del)
c.2278_2289del (p.Pro760_Ala763del)
 ClinVar dbSNP
10g.110812838C>ACA378374064RBM20c.2441C>A (p.Ala814Asp)
c.2057C>A (p.Ala686Asp)
c.2276C>A (p.Ala759Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.110812838C>GCA378374067RBM20c.2441C>G (p.Ala814Gly)
c.2057C>G (p.Ala686Gly)
c.2276C>G (p.Ala759Gly)
10g.110812838C>TCA378374068RBM20c.2441C>T (p.Ala814Val)
c.2057C>T (p.Ala686Val)
c.2276C>T (p.Ala759Val)
 dbSNP
10g.110812839C>ACA471507178RBM20c.2442C>A (p.Ala814=)
c.2058C>A (p.Ala686=)
c.2277C>A (p.Ala759=)
10g.110812839C>GCA471507179RBM20c.2442C>G (p.Ala814=)
c.2058C>G (p.Ala686=)
c.2277C>G (p.Ala759=)
10g.110812839C>TCA471507180RBM20c.2442C>T (p.Ala814=)
c.2058C>T (p.Ala686=)
c.2277C>T (p.Ala759=)
10g.110812840C>ACA378374069RBM20c.2443C>A (p.Pro815Thr)
c.2059C>A (p.Pro687Thr)
c.2278C>A (p.Pro760Thr)
 dbSNP
10g.110812840C>GCA378374070RBM20c.2443C>G (p.Pro815Ala)
c.2059C>G (p.Pro687Ala)
c.2278C>G (p.Pro760Ala)
10g.110812840C>TCA378374072RBM20c.2443C>T (p.Pro815Ser)
c.2059C>T (p.Pro687Ser)
c.2278C>T (p.Pro760Ser)
 dbSNP
10g.110812841C>ACA378374085RBM20c.2444C>A (p.Pro815His)
c.2060C>A (p.Pro687His)
c.2279C>A (p.Pro760His)
10g.110812841C>GCA378374078RBM20c.2444C>G (p.Pro815Arg)
c.2060C>G (p.Pro687Arg)
c.2279C>G (p.Pro760Arg)
10g.110812841C>TCA378374081RBM20c.2444C>T (p.Pro815Leu)
c.2060C>T (p.Pro687Leu)
c.2279C>T (p.Pro760Leu)
10g.110812842T>ACA471507183RBM20c.2445T>A (p.Pro815=)
c.2061T>A (p.Pro687=)
c.2280T>A (p.Pro760=)
10g.110812842T>CCA471507184RBM20c.2445T>C (p.Pro815=)
c.2061T>C (p.Pro687=)
c.2280T>C (p.Pro760=)
10g.110812842T>GCA471507185RBM20c.2445T>G (p.Pro815=)
c.2061T>G (p.Pro687=)
c.2280T>G (p.Pro760=)
10g.110812843G>ACA378374092RBM20c.2446G>A (p.Glu816Lys)
c.2062G>A (p.Glu688Lys)
c.2281G>A (p.Glu761Lys)
10g.110812843G>CCA378374095RBM20c.2446G>C (p.Glu816Gln)
c.2062G>C (p.Glu688Gln)
c.2281G>C (p.Glu761Gln)
10g.110812843G>TCA378374099RBM20c.2446G>T (p.Glu816Ter)
c.2062G>T (p.Glu688Ter)
c.2281G>T (p.Glu761Ter)
 gnomAD v4
10g.110812844A>CCA378374108RBM20c.2447A>C (p.Glu816Ala)
c.2063A>C (p.Glu688Ala)
c.2282A>C (p.Glu761Ala)
10g.110812844A>GCA378374111RBM20c.2447A>G (p.Glu816Gly)
c.2063A>G (p.Glu688Gly)
c.2282A>G (p.Glu761Gly)
10g.110812844A>TCA378374112RBM20c.2447A>T (p.Glu816Val)
c.2063A>T (p.Glu688Val)
c.2282A>T (p.Glu761Val)
10g.110812845G>ACA471507191RBM20c.2448G>A (p.Glu816=)
c.2064G>A (p.Glu688=)
c.2283G>A (p.Glu761=)
 ClinVar dbSNP
10g.110812845G>CCA378374116RBM20c.2448G>C (p.Glu816Asp)
c.2064G>C (p.Glu688Asp)
c.2283G>C (p.Glu761Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.110812845G>TCA378374119RBM20c.2448G>T (p.Glu816Asp)
c.2064G>T (p.Glu688Asp)
c.2283G>T (p.Glu761Asp)
10g.110812846G>ACA378374124RBM20c.2449G>A (p.Gly817Ser)
c.2065G>A (p.Gly689Ser)
c.2284G>A (p.Gly762Ser)
10g.110812846G>CCA378374126RBM20c.2449G>C (p.Gly817Arg)
c.2065G>C (p.Gly689Arg)
c.2284G>C (p.Gly762Arg)
10g.110812846G>TCA378374129RBM20c.2449G>T (p.Gly817Cys)
c.2065G>T (p.Gly689Cys)
c.2284G>T (p.Gly762Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812847G>ACA378374133RBM20c.2450G>A (p.Gly817Asp)
c.2066G>A (p.Gly689Asp)
c.2285G>A (p.Gly762Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812847G>CCA378374137RBM20c.2450G>C (p.Gly817Ala)
c.2066G>C (p.Gly689Ala)
c.2285G>C (p.Gly762Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.110812847G>TCA378374149RBM20c.2450G>T (p.Gly817Val)
c.2066G>T (p.Gly689Val)
c.2285G>T (p.Gly762Val)
 gnomAD v4
10g.110812848C>ACA471507196RBM20c.2451C>A (p.Gly817=)
c.2067C>A (p.Gly689=)
c.2286C>A (p.Gly762=)
 dbSNP gnomAD v3 gnomAD v4
10g.110812848C>GCA471507198RBM20c.2451C>G (p.Gly817=)
c.2067C>G (p.Gly689=)
c.2286C>G (p.Gly762=)
10g.110812848C>TCA471507200RBM20c.2451C>T (p.Gly817=)
c.2067C>T (p.Gly689=)
c.2286C>T (p.Gly762=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812849G>ACA5688693RBM20c.2452G>A (p.Ala818Thr)
c.2068G>A (p.Ala690Thr)
c.2287G>A (p.Ala763Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.110812849G>CCA378374168RBM20c.2452G>C (p.Ala818Pro)
c.2068G>C (p.Ala690Pro)
c.2287G>C (p.Ala763Pro)
10g.110812849G>TCA133316RBM20c.2452G>T (p.Ala818Ser)
c.2068G>T (p.Ala690Ser)
c.2287G>T (p.Ala763Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812850C>ACA378374174RBM20c.2453C>A (p.Ala818Asp)
c.2069C>A (p.Ala690Asp)
c.2288C>A (p.Ala763Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812850C>GCA378374176RBM20c.2453C>G (p.Ala818Gly)
c.2069C>G (p.Ala690Gly)
c.2288C>G (p.Ala763Gly)
10g.110812850C>TCA378374180RBM20c.2453C>T (p.Ala818Val)
c.2069C>T (p.Ala690Val)
c.2288C>T (p.Ala763Val)
10g.110812851C>ACA471507205RBM20c.2454C>A (p.Ala818=)
c.2070C>A (p.Ala690=)
c.2289C>A (p.Ala763=)
10g.110812851C>GCA471507206RBM20c.2454C>G (p.Ala818=)
c.2070C>G (p.Ala690=)
c.2289C>G (p.Ala763=)
10g.110812851C>TCA471507203RBM20c.2454C>T (p.Ala818=)
c.2070C>T (p.Ala690=)
c.2289C>T (p.Ala763=)
10g.110812852A>CCA378374184RBM20c.2455A>C (p.Lys819Gln)
c.2071A>C (p.Lys691Gln)
c.2290A>C (p.Lys764Gln)
10g.110812852A>GCA378374186RBM20c.2455A>G (p.Lys819Glu)
c.2071A>G (p.Lys691Glu)
c.2290A>G (p.Lys764Glu)
10g.110812852A>TCA378374190RBM20c.2455A>T (p.Lys819Ter)
c.2071A>T (p.Lys691Ter)
c.2290A>T (p.Lys764Ter)
10g.110812853A>CCA378374193RBM20c.2456A>C (p.Lys819Thr)
c.2072A>C (p.Lys691Thr)
c.2291A>C (p.Lys764Thr)
10g.110812853A>GCA378374196RBM20c.2456A>G (p.Lys819Arg)
c.2072A>G (p.Lys691Arg)
c.2291A>G (p.Lys764Arg)
10g.110812853A>TCA378374199RBM20c.2456A>T (p.Lys819Met)
c.2072A>T (p.Lys691Met)
c.2291A>T (p.Lys764Met)
10g.110812854G>ACA471507209RBM20c.2457G>A (p.Lys819=)
c.2073G>A (p.Lys691=)
c.2292G>A (p.Lys764=)
10g.110812854G>CCA378374203RBM20c.2457G>C (p.Lys819Asn)
c.2073G>C (p.Lys691Asn)
c.2292G>C (p.Lys764Asn)
10g.110812854G>TCA378374206RBM20c.2457G>T (p.Lys819Asn)
c.2073G>T (p.Lys691Asn)
c.2292G>T (p.Lys764Asn)
10g.110812854_110812855insCTCA2789485021RBM20c.2457_2458insCT (p.Ala820LeufsTer?)
c.2073_2074insCT (p.Ala692LeufsTer?)
c.2292_2293insCT (p.Ala765LeufsTer?)
10g.110812855G>ACA378374209RBM20c.2458G>A (p.Ala820Thr)
c.2074G>A (p.Ala692Thr)
c.2293G>A (p.Ala765Thr)
10g.110812855G>CCA378374213RBM20c.2458G>C (p.Ala820Pro)
c.2074G>C (p.Ala692Pro)
c.2293G>C (p.Ala765Pro)
10g.110812855G>TCA213224379RBM20c.2458G>T (p.Ala820Ser)
c.2074G>T (p.Ala692Ser)
c.2293G>T (p.Ala765Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.110812856C>ACA378374219RBM20c.2459C>A (p.Ala820Asp)
c.2075C>A (p.Ala692Asp)
c.2294C>A (p.Ala765Asp)
 gnomAD v4
10g.110812856C>GCA378374220RBM20c.2459C>G (p.Ala820Gly)
c.2075C>G (p.Ala692Gly)
c.2294C>G (p.Ala765Gly)
10g.110812856C>TCA378374217RBM20c.2459C>T (p.Ala820Val)
c.2075C>T (p.Ala692Val)
c.2294C>T (p.Ala765Val)
 gnomAD v4
10g.110812857C>ACA471507216RBM20c.2460C>A (p.Ala820=)
c.2076C>A (p.Ala692=)
c.2295C>A (p.Ala765=)
 gnomAD v4
10g.110812857C>GCA471507218RBM20c.2460C>G (p.Ala820=)
c.2076C>G (p.Ala692=)
c.2295C>G (p.Ala765=)
10g.110812857C>TCA471507213RBM20c.2460C>T (p.Ala820=)
c.2076C>T (p.Ala692=)
c.2295C>T (p.Ala765=)
10g.110812858A>CCA378374222RBM20c.2461A>C (p.Lys821Gln)
c.2077A>C (p.Lys693Gln)
c.2296A>C (p.Lys766Gln)
10g.110812858A>GCA378374224RBM20c.2461A>G (p.Lys821Glu)
c.2077A>G (p.Lys693Glu)
c.2296A>G (p.Lys766Glu)
10g.110812858A>TCA378374235RBM20c.2461A>T (p.Lys821Ter)
c.2077A>T (p.Lys693Ter)
c.2296A>T (p.Lys766Ter)
10g.110812859A>CCA378374237RBM20c.2462A>C (p.Lys821Thr)
c.2078A>C (p.Lys693Thr)
c.2297A>C (p.Lys766Thr)
10g.110812859A>GCA5688694RBM20c.2462A>G (p.Lys821Arg)
c.2078A>G (p.Lys693Arg)
c.2297A>G (p.Lys766Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812859A>TCA378374242RBM20c.2462A>T (p.Lys821Met)
c.2078A>T (p.Lys693Met)
c.2297A>T (p.Lys766Met)
10g.110812860G>ACA471507222RBM20c.2463G>A (p.Lys821=)
c.2079G>A (p.Lys693=)
c.2298G>A (p.Lys766=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812860G>CCA378374245RBM20c.2463G>C (p.Lys821Asn)
c.2079G>C (p.Lys693Asn)
c.2298G>C (p.Lys766Asn)
10g.110812860G>TCA378374247RBM20c.2463G>T (p.Lys821Asn)
c.2079G>T (p.Lys693Asn)
c.2298G>T (p.Lys766Asn)
10g.110812861C>ACA5688695RBM20c.2464C>A (p.Gln822Lys)
c.2080C>A (p.Gln694Lys)
c.2299C>A (p.Gln767Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812861C>GCA378374250RBM20c.2464C>G (p.Gln822Glu)
c.2080C>G (p.Gln694Glu)
c.2299C>G (p.Gln767Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812861C>TCA378374251RBM20c.2464C>T (p.Gln822Ter)
c.2080C>T (p.Gln694Ter)
c.2299C>T (p.Gln767Ter)
10g.110812862A>CCA378374252RBM20c.2465A>C (p.Gln822Pro)
c.2081A>C (p.Gln694Pro)
c.2300A>C (p.Gln767Pro)
10g.110812862A>GCA378374254RBM20c.2465A>G (p.Gln822Arg)
c.2081A>G (p.Gln694Arg)
c.2300A>G (p.Gln767Arg)
10g.110812862A>TCA378374256RBM20c.2465A>T (p.Gln822Leu)
c.2081A>T (p.Gln694Leu)
c.2300A>T (p.Gln767Leu)
10g.110812863G>ACA471507227RBM20c.2466G>A (p.Gln822=)
c.2082G>A (p.Gln694=)
c.2301G>A (p.Gln767=)
 ClinVar
10g.110812863G>CCA378374262RBM20c.2466G>C (p.Gln822His)
c.2082G>C (p.Gln694His)
c.2301G>C (p.Gln767His)
 dbSNP gnomAD v4
10g.110812863G>TCA378374265RBM20c.2466G>T (p.Gln822His)
c.2082G>T (p.Gln694His)
c.2301G>T (p.Gln767His)
10g.110812864A>CCA378374270RBM20c.2467A>C (p.Asn823His)
c.2083A>C (p.Asn695His)
c.2302A>C (p.Asn768His)
10g.110812864A>GCA378374272RBM20c.2467A>G (p.Asn823Asp)
c.2083A>G (p.Asn695Asp)
c.2302A>G (p.Asn768Asp)
 gnomAD v4
10g.110812864A>TCA378374275RBM20c.2467A>T (p.Asn823Tyr)
c.2083A>T (p.Asn695Tyr)
c.2302A>T (p.Asn768Tyr)
10g.110812865A>CCA378374278RBM20c.2468A>C (p.Asn823Thr)
c.2084A>C (p.Asn695Thr)
c.2303A>C (p.Asn768Thr)
10g.110812865A>GCA378374280RBM20c.2468A>G (p.Asn823Ser)
c.2084A>G (p.Asn695Ser)
c.2303A>G (p.Asn768Ser)
 gnomAD v4
10g.110812865A>TCA378374283RBM20c.2468A>T (p.Asn823Ile)
c.2084A>T (p.Asn695Ile)
c.2303A>T (p.Asn768Ile)
10g.110812866T>ACA378374286RBM20c.2469T>A (p.Asn823Lys)
c.2085T>A (p.Asn695Lys)
c.2304T>A (p.Asn768Lys)
10g.110812866T>CCA471507233RBM20c.2469T>C (p.Asn823=)
c.2085T>C (p.Asn695=)
c.2304T>C (p.Asn768=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812866T>GCA378374289RBM20c.2469T>G (p.Asn823Lys)
c.2085T>G (p.Asn695Lys)
c.2304T>G (p.Asn768Lys)
10g.110812867G>ACA378374292RBM20c.2470G>A (p.Glu824Lys)
c.2086G>A (p.Glu696Lys)
c.2305G>A (p.Glu769Lys)
10g.110812867G>CCA378374295RBM20c.2470G>C (p.Glu824Gln)
c.2086G>C (p.Glu696Gln)
c.2305G>C (p.Glu769Gln)
10g.110812867G>TCA378374297RBM20c.2470G>T (p.Glu824Ter)
c.2086G>T (p.Glu696Ter)
c.2305G>T (p.Glu769Ter)
10g.110812868A>CCA378374299RBM20c.2471A>C (p.Glu824Ala)
c.2087A>C (p.Glu696Ala)
c.2306A>C (p.Glu769Ala)
10g.110812868A>GCA378374305RBM20c.2471A>G (p.Glu824Gly)
c.2087A>G (p.Glu696Gly)
c.2306A>G (p.Glu769Gly)
10g.110812868A>TCA378374302RBM20c.2471A>T (p.Glu824Val)
c.2087A>T (p.Glu696Val)
c.2306A>T (p.Glu769Val)
10g.110812869G>ACA471507236RBM20c.2472G>A (p.Glu824=)
c.2088G>A (p.Glu696=)
c.2307G>A (p.Glu769=)
10g.110812869G>CCA378374308RBM20c.2472G>C (p.Glu824Asp)
c.2088G>C (p.Glu696Asp)
c.2307G>C (p.Glu769Asp)
10g.110812869G>TCA378374312RBM20c.2472G>T (p.Glu824Asp)
c.2088G>T (p.Glu696Asp)
c.2307G>T (p.Glu769Asp)
10g.110812870A>CCA378374314RBM20c.2473A>C (p.Lys825Gln)
c.2089A>C (p.Lys697Gln)
c.2308A>C (p.Lys770Gln)
10g.110812870A>GCA378374321RBM20c.2473A>G (p.Lys825Glu)
c.2089A>G (p.Lys697Glu)
c.2308A>G (p.Lys770Glu)
10g.110812870A>TCA378374316RBM20c.2473A>T (p.Lys825Ter)
c.2089A>T (p.Lys697Ter)
c.2308A>T (p.Lys770Ter)
10g.110812871A>CCA378374325RBM20c.2474A>C (p.Lys825Thr)
c.2090A>C (p.Lys697Thr)
c.2309A>C (p.Lys770Thr)
10g.110812871A>GCA378374328RBM20c.2474A>G (p.Lys825Arg)
c.2090A>G (p.Lys697Arg)
c.2309A>G (p.Lys770Arg)
10g.110812871A>TCA378374330RBM20c.2474A>T (p.Lys825Ile)
c.2090A>T (p.Lys697Ile)
c.2309A>T (p.Lys770Ile)
10g.110812872A>CCA378374331RBM20c.2475A>C (p.Lys825Asn)
c.2091A>C (p.Lys697Asn)
c.2310A>C (p.Lys770Asn)
10g.110812872A>GCA471507240RBM20c.2475A>G (p.Lys825=)
c.2091A>G (p.Lys697=)
c.2310A>G (p.Lys770=)
10g.110812872A>TCA378374333RBM20c.2475A>T (p.Lys825Asn)
c.2091A>T (p.Lys697Asn)
c.2310A>T (p.Lys770Asn)
10g.110812873A>CCA378374335RBM20c.2476A>C (p.Asn826His)
c.2092A>C (p.Asn698His)
c.2311A>C (p.Asn771His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812873A>GCA378374336RBM20c.2476A>G (p.Asn826Asp)
c.2092A>G (p.Asn698Asp)
c.2311A>G (p.Asn771Asp)
10g.110812873A>TCA378374339RBM20c.2476A>T (p.Asn826Tyr)
c.2092A>T (p.Asn698Tyr)
c.2311A>T (p.Asn771Tyr)
10g.110812874A>CCA378374342RBM20c.2477A>C (p.Asn826Thr)
c.2093A>C (p.Asn698Thr)
c.2312A>C (p.Asn771Thr)
10g.110812874A>GCA5688696RBM20c.2477A>G (p.Asn826Ser)
c.2093A>G (p.Asn698Ser)
c.2312A>G (p.Asn771Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812874A>TCA378374346RBM20c.2477A>T (p.Asn826Ile)
c.2093A>T (p.Asn698Ile)
c.2312A>T (p.Asn771Ile)
10g.110812875T>ACA378374351RBM20c.2478T>A (p.Asn826Lys)
c.2094T>A (p.Asn698Lys)
c.2313T>A (p.Asn771Lys)
10g.110812875T>CCA471507244RBM20c.2478T>C (p.Asn826=)
c.2094T>C (p.Asn698=)
c.2313T>C (p.Asn771=)
10g.110812875T>GCA378374348RBM20c.2478T>G (p.Asn826Lys)
c.2094T>G (p.Asn698Lys)
c.2313T>G (p.Asn771Lys)
10g.110812876A>CCA378374354RBM20c.2479A>C (p.Lys827Gln)
c.2095A>C (p.Lys699Gln)
c.2314A>C (p.Lys772Gln)
10g.110812876A>GCA378374357RBM20c.2479A>G (p.Lys827Glu)
c.2095A>G (p.Lys699Glu)
c.2314A>G (p.Lys772Glu)
 gnomAD v4
10g.110812876A>TCA378374360RBM20c.2479A>T (p.Lys827Ter)
c.2095A>T (p.Lys699Ter)
c.2314A>T (p.Lys772Ter)
10g.110812877A>CCA378374363RBM20c.2480A>C (p.Lys827Thr)
c.2096A>C (p.Lys699Thr)
c.2315A>C (p.Lys772Thr)
10g.110812877A>GCA378374365RBM20c.2480A>G (p.Lys827Arg)
c.2096A>G (p.Lys699Arg)
c.2315A>G (p.Lys772Arg)
10g.110812877A>TCA378374368RBM20c.2480A>T (p.Lys827Ile)
c.2096A>T (p.Lys699Ile)
c.2315A>T (p.Lys772Ile)
10g.110812878A>CCA378374371RBM20c.2481A>C (p.Lys827Asn)
c.2097A>C (p.Lys699Asn)
c.2316A>C (p.Lys772Asn)
10g.110812878A>GCA471507247RBM20c.2481A>G (p.Lys827=)
c.2097A>G (p.Lys699=)
c.2316A>G (p.Lys772=)
10g.110812878A>TCA378374374RBM20c.2481A>T (p.Lys827Asn)
c.2097A>T (p.Lys699Asn)
c.2316A>T (p.Lys772Asn)
10g.110812879A>CCA378374377RBM20c.2482A>C (p.Thr828Pro)
c.2098A>C (p.Thr700Pro)
c.2317A>C (p.Thr773Pro)
10g.110812879A>GCA378374380RBM20c.2482A>G (p.Thr828Ala)
c.2098A>G (p.Thr700Ala)
c.2317A>G (p.Thr773Ala)
10g.110812879A>TCA378374383RBM20c.2482A>T (p.Thr828Ser)
c.2098A>T (p.Thr700Ser)
c.2317A>T (p.Thr773Ser)
10g.110812880C>ACA378374388RBM20c.2483C>A (p.Thr828Asn)
c.2099C>A (p.Thr700Asn)
c.2318C>A (p.Thr773Asn)
10g.110812880C>GCA378374389RBM20c.2483C>G (p.Thr828Ser)
c.2099C>G (p.Thr700Ser)
c.2318C>G (p.Thr773Ser)
10g.110812880C>TCA378374385RBM20c.2483C>T (p.Thr828Ile)
c.2099C>T (p.Thr700Ile)
c.2318C>T (p.Thr773Ile)
10g.110812881C>ACA471507251RBM20c.2484C>A (p.Thr828=)
c.2100C>A (p.Thr700=)
c.2319C>A (p.Thr773=)
 gnomAD v4
10g.110812881C>GCA471507252RBM20c.2484C>G (p.Thr828=)
c.2100C>G (p.Thr700=)
c.2319C>G (p.Thr773=)
10g.110812881C>TCA213224399RBM20c.2484C>T (p.Thr828=)
c.2100C>T (p.Thr700=)
c.2319C>T (p.Thr773=)
 dbSNP
10g.110812882A>CCA378374392RBM20c.2485A>C (p.Lys829Gln)
c.2101A>C (p.Lys701Gln)
c.2320A>C (p.Lys774Gln)
10g.110812882A>GCA378374394RBM20c.2485A>G (p.Lys829Glu)
c.2101A>G (p.Lys701Glu)
c.2320A>G (p.Lys774Glu)
10g.110812882A>TCA378374397RBM20c.2485A>T (p.Lys829Ter)
c.2101A>T (p.Lys701Ter)
c.2320A>T (p.Lys774Ter)

Number of alleles fetched