Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812773A>C | CA378373621 | RBM20 | c.2376A>C (p.Glu792Asp) c.1992A>C (p.Glu664Asp) c.2211A>C (p.Glu737Asp) | |
10 | g.110812773A>G | CA471507049 | RBM20 | c.2376A>G (p.Glu792=) c.1992A>G (p.Glu664=) c.2211A>G (p.Glu737=) | |
10 | g.110812773A>T | CA378373623 | RBM20 | c.2376A>T (p.Glu792Asp) c.1992A>T (p.Glu664Asp) c.2211A>T (p.Glu737Asp) | |
10 | g.110812774A>C | CA378373624 | RBM20 | c.2377A>C (p.Ser793Arg) c.1993A>C (p.Ser665Arg) c.2212A>C (p.Ser738Arg) | |
10 | g.110812774A>G | CA378373626 | RBM20 | c.2377A>G (p.Ser793Gly) c.1993A>G (p.Ser665Gly) c.2212A>G (p.Ser738Gly) | |
10 | g.110812774A>T | CA378373625 | RBM20 | c.2377A>T (p.Ser793Cys) c.1993A>T (p.Ser665Cys) c.2212A>T (p.Ser738Cys) | |
10 | g.110812775G>A | CA378373627 | RBM20 | c.2378G>A (p.Ser793Asn) c.1994G>A (p.Ser665Asn) c.2213G>A (p.Ser738Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812775G>C | CA378373629 | RBM20 | c.2378G>C (p.Ser793Thr) c.1994G>C (p.Ser665Thr) c.2213G>C (p.Ser738Thr) | |
10 | g.110812775G>T | CA378373631 | RBM20 | c.2378G>T (p.Ser793Ile) c.1994G>T (p.Ser665Ile) c.2213G>T (p.Ser738Ile) | |
10 | g.110812776C>A | CA378373635 | RBM20 | c.2379C>A (p.Ser793Arg) c.1995C>A (p.Ser665Arg) c.2214C>A (p.Ser738Arg) | |
10 | g.110812776C>G | CA378373639 | RBM20 | c.2379C>G (p.Ser793Arg) c.1995C>G (p.Ser665Arg) c.2214C>G (p.Ser738Arg) | |
10 | g.110812776C>T | CA471507052 | RBM20 | c.2379C>T (p.Ser793=) c.1995C>T (p.Ser665=) c.2214C>T (p.Ser738=) | |
10 | g.110812777A>C | CA471507055 | RBM20 | c.2380A>C (p.Arg794=) c.1996A>C (p.Arg666=) c.2215A>C (p.Arg739=) | |
10 | g.110812777A>G | CA378373641 | RBM20 | c.2380A>G (p.Arg794Gly) c.1996A>G (p.Arg666Gly) c.2215A>G (p.Arg739Gly) | |
10 | g.110812777A>T | CA378373642 | RBM20 | c.2380A>T (p.Arg794Ter) c.1996A>T (p.Arg666Ter) c.2215A>T (p.Arg739Ter) | |
10 | g.110812778G>A | CA213224295 | RBM20 | c.2381G>A (p.Arg794Lys) c.1997G>A (p.Arg666Lys) c.2216G>A (p.Arg739Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812778G>C | CA378373644 | RBM20 | c.2381G>C (p.Arg794Thr) c.1997G>C (p.Arg666Thr) c.2216G>C (p.Arg739Thr) | ClinVar dbSNP |
10 | g.110812778G>T | CA378373663 | RBM20 | c.2381G>T (p.Arg794Ile) c.1997G>T (p.Arg666Ile) c.2216G>T (p.Arg739Ile) | |
10 | g.110812779A>C | CA213224300 | RBM20 | c.2382A>C (p.Arg794Ser) c.1998A>C (p.Arg666Ser) c.2217A>C (p.Arg739Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812779A>G | CA471507061 | RBM20 | c.2382A>G (p.Arg794=) c.1998A>G (p.Arg666=) c.2217A>G (p.Arg739=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812779A>T | CA378373667 | RBM20 | c.2382A>T (p.Arg794Ser) c.1998A>T (p.Arg666Ser) c.2217A>T (p.Arg739Ser) | |
10 | g.110812779_110812790dup | CA932526958 | RBM20 | c.2382_2393dup (p.Pro798_Asp799insHisProHisPro) c.1998_2009dup (p.Pro670_Asp671insHisProHisPro) c.2217_2228dup (p.Pro743_Asp744insHisProHisPro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812780C>A | CA378373675 | RBM20 | c.2383C>A (p.His795Asn) c.1999C>A (p.His667Asn) c.2218C>A (p.His740Asn) | ClinVar dbSNP gnomAD v4 |
10 | g.110812780C>G | CA378373673 | RBM20 | c.2383C>G (p.His795Asp) c.1999C>G (p.His667Asp) c.2218C>G (p.His740Asp) | |
10 | g.110812780C>T | CA378373670 | RBM20 | c.2383C>T (p.His795Tyr) c.1999C>T (p.His667Tyr) c.2218C>T (p.His740Tyr) | |
10 | g.110812781A>C | CA378373679 | RBM20 | c.2384A>C (p.His795Pro) c.2000A>C (p.His667Pro) c.2219A>C (p.His740Pro) | dbSNP |
10 | g.110812781A>G | CA378373682 | RBM20 | c.2384A>G (p.His795Arg) c.2000A>G (p.His667Arg) c.2219A>G (p.His740Arg) | |
10 | g.110812781A>T | CA378373685 | RBM20 | c.2384A>T (p.His795Leu) c.2000A>T (p.His667Leu) c.2219A>T (p.His740Leu) | gnomAD v4 |
10 | g.110812782C>A | CA378373687 | RBM20 | c.2385C>A (p.His795Gln) c.2001C>A (p.His667Gln) c.2220C>A (p.His740Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812782C>G | CA378373688 | RBM20 | c.2385C>G (p.His795Gln) c.2001C>G (p.His667Gln) c.2220C>G (p.His740Gln) | |
10 | g.110812782C>T | CA5688689 | RBM20 | c.2385C>T (p.His795=) c.2001C>T (p.His667=) c.2220C>T (p.His740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812786del | CA471507071 | RBM20 | c.2389del (p.His797IlefsTer?) c.2005del (p.His669IlefsTer?) c.2224del (p.His742IlefsTer?) | COSMIC |
10 | g.110812783C>A | CA378373693 | RBM20 | c.2386C>A (p.Pro796Thr) c.2002C>A (p.Pro668Thr) c.2221C>A (p.Pro741Thr) | gnomAD v4 |
10 | g.110812783C>G | CA378373695 | RBM20 | c.2386C>G (p.Pro796Ala) c.2002C>G (p.Pro668Ala) c.2221C>G (p.Pro741Ala) | |
10 | g.110812783C>T | CA378373698 | RBM20 | c.2386C>T (p.Pro796Ser) c.2002C>T (p.Pro668Ser) c.2221C>T (p.Pro741Ser) | |
10 | g.110812785_110812790dup | CA471507072 | RBM20 | c.2388_2393dup (p.Pro798_Asp799insHisPro) c.2004_2009dup (p.Pro670_Asp671insHisPro) c.2223_2228dup (p.Pro743_Asp744insHisPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812784C>A | CA378373702 | RBM20 | c.2387C>A (p.Pro796His) c.2003C>A (p.Pro668His) c.2222C>A (p.Pro741His) | |
10 | g.110812784C>G | CA378373705 | RBM20 | c.2387C>G (p.Pro796Arg) c.2003C>G (p.Pro668Arg) c.2222C>G (p.Pro741Arg) | |
10 | g.110812784C>T | CA378373707 | RBM20 | c.2387C>T (p.Pro796Leu) c.2003C>T (p.Pro668Leu) c.2222C>T (p.Pro741Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812785C>A | CA471507077 | RBM20 | c.2388C>A (p.Pro796=) c.2004C>A (p.Pro668=) c.2223C>A (p.Pro741=) | gnomAD v4 |
10 | g.110812785C>G | CA16605806 | RBM20 | c.2388C>G (p.Pro796=) c.2004C>G (p.Pro668=) c.2223C>G (p.Pro741=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812785C>T | CA471507079 | RBM20 | c.2388C>T (p.Pro796=) c.2004C>T (p.Pro668=) c.2223C>T (p.Pro741=) | gnomAD v4 |
10 | g.110812786C>A | CA378373710 | RBM20 | c.2389C>A (p.His797Asn) c.2005C>A (p.His669Asn) c.2224C>A (p.His742Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812786C>G | CA378373713 | RBM20 | c.2389C>G (p.His797Asp) c.2005C>G (p.His669Asp) c.2224C>G (p.His742Asp) | |
10 | g.110812786C>T | CA378373712 | RBM20 | c.2389C>T (p.His797Tyr) c.2005C>T (p.His669Tyr) c.2224C>T (p.His742Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812787A>C | CA378373714 | RBM20 | c.2390A>C (p.His797Pro) c.2006A>C (p.His669Pro) c.2225A>C (p.His742Pro) | |
10 | g.110812787A>G | CA378373716 | RBM20 | c.2390A>G (p.His797Arg) c.2006A>G (p.His669Arg) c.2225A>G (p.His742Arg) | dbSNP gnomAD v4 |
10 | g.110812787A>T | CA378373715 | RBM20 | c.2390A>T (p.His797Leu) c.2006A>T (p.His669Leu) c.2225A>T (p.His742Leu) | ClinVar |
10 | g.110812788T>A | CA378373719 | RBM20 | c.2391T>A (p.His797Gln) c.2007T>A (p.His669Gln) c.2226T>A (p.His742Gln) | |
10 | g.110812788T>C | CA471507086 | RBM20 | c.2391T>C (p.His797=) c.2007T>C (p.His669=) c.2226T>C (p.His742=) | |
10 | g.110812788T>G | CA378373721 | RBM20 | c.2391T>G (p.His797Gln) c.2007T>G (p.His669Gln) c.2226T>G (p.His742Gln) | |
10 | g.110812789C>A | CA378373723 | RBM20 | c.2392C>A (p.Pro798Thr) c.2008C>A (p.Pro670Thr) c.2227C>A (p.Pro743Thr) | |
10 | g.110812789C>G | CA378373725 | RBM20 | c.2392C>G (p.Pro798Ala) c.2008C>G (p.Pro670Ala) c.2227C>G (p.Pro743Ala) | |
10 | g.110812789C>T | CA378373727 | RBM20 | c.2392C>T (p.Pro798Ser) c.2008C>T (p.Pro670Ser) c.2227C>T (p.Pro743Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812790C>A | CA378373730 | RBM20 | c.2393C>A (p.Pro798Gln) c.2009C>A (p.Pro670Gln) c.2228C>A (p.Pro743Gln) | |
10 | g.110812790C>G | CA378373733 | RBM20 | c.2393C>G (p.Pro798Arg) c.2009C>G (p.Pro670Arg) c.2228C>G (p.Pro743Arg) | |
10 | g.110812790C>T | CA346601 | RBM20 | c.2393C>T (p.Pro798Leu) c.2009C>T (p.Pro670Leu) c.2228C>T (p.Pro743Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812791G>A | CA213224318 | RBM20 | c.2394G>A (p.Pro798=) c.2010G>A (p.Pro670=) c.2229G>A (p.Pro743=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.110812791G>C | CA471507088 | RBM20 | c.2394G>C (p.Pro798=) c.2010G>C (p.Pro670=) c.2229G>C (p.Pro743=) | dbSNP |
10 | g.110812791G>T | CA471507089 | RBM20 | c.2394G>T (p.Pro798=) c.2010G>T (p.Pro670=) c.2229G>T (p.Pro743=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812792G>A | CA378373742 | RBM20 | c.2395G>A (p.Asp799Asn) c.2011G>A (p.Asp671Asn) c.2230G>A (p.Asp744Asn) | |
10 | g.110812792G>C | CA378373743 | RBM20 | c.2395G>C (p.Asp799His) c.2011G>C (p.Asp671His) c.2230G>C (p.Asp744His) | |
10 | g.110812792G>T | CA378373747 | RBM20 | c.2395G>T (p.Asp799Tyr) c.2011G>T (p.Asp671Tyr) c.2230G>T (p.Asp744Tyr) | ClinVar |
10 | g.110812792_110812793delinsTT | CA2825001682 | RBM20 | c.2395_2396delinsTT (p.Asp799Phe) c.2011_2012delinsTT (p.Asp671Phe) c.2230_2231delinsTT (p.Asp744Phe) | ClinVar |
10 | g.110812793A>C | CA378373760 | RBM20 | c.2396A>C (p.Asp799Ala) c.2012A>C (p.Asp671Ala) c.2231A>C (p.Asp744Ala) | |
10 | g.110812793A>G | CA378373752 | RBM20 | c.2396A>G (p.Asp799Gly) c.2012A>G (p.Asp671Gly) c.2231A>G (p.Asp744Gly) | ClinVar gnomAD v4 |
10 | g.110812793A>T | CA378373754 | RBM20 | c.2396A>T (p.Asp799Val) c.2012A>T (p.Asp671Val) c.2231A>T (p.Asp744Val) | ClinVar |
10 | g.110812794T>A | CA378373764 | RBM20 | c.2397T>A (p.Asp799Glu) c.2013T>A (p.Asp671Glu) c.2232T>A (p.Asp744Glu) | |
10 | g.110812794T>C | CA471507094 | RBM20 | c.2397T>C (p.Asp799=) c.2013T>C (p.Asp671=) c.2232T>C (p.Asp744=) | |
10 | g.110812794T>G | CA378373768 | RBM20 | c.2397T>G (p.Asp799Glu) c.2013T>G (p.Asp671Glu) c.2232T>G (p.Asp744Glu) | |
10 | g.110812795G>A | CA378373771 | RBM20 | c.2398G>A (p.Asp800Asn) c.2014G>A (p.Asp672Asn) c.2233G>A (p.Asp745Asn) | ClinVar gnomAD v4 |
10 | g.110812795G>C | CA378373775 | RBM20 | c.2398G>C (p.Asp800His) c.2014G>C (p.Asp672His) c.2233G>C (p.Asp745His) | |
10 | g.110812795G>T | CA378373777 | RBM20 | c.2398G>T (p.Asp800Tyr) c.2014G>T (p.Asp672Tyr) c.2233G>T (p.Asp745Tyr) | |
10 | g.110812796A>C | CA378373781 | RBM20 | c.2399A>C (p.Asp800Ala) c.2015A>C (p.Asp672Ala) c.2234A>C (p.Asp745Ala) | |
10 | g.110812796A>G | CA378373784 | RBM20 | c.2399A>G (p.Asp800Gly) c.2015A>G (p.Asp672Gly) c.2234A>G (p.Asp745Gly) | |
10 | g.110812796A>T | CA378373786 | RBM20 | c.2399A>T (p.Asp800Val) c.2015A>T (p.Asp672Val) c.2234A>T (p.Asp745Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812797C>A | CA378373787 | RBM20 | c.2400C>A (p.Asp800Glu) c.2016C>A (p.Asp672Glu) c.2235C>A (p.Asp745Glu) | |
10 | g.110812797C>G | CA378373790 | RBM20 | c.2400C>G (p.Asp800Glu) c.2016C>G (p.Asp672Glu) c.2235C>G (p.Asp745Glu) | |
10 | g.110812797C>T | CA471507098 | RBM20 | c.2400C>T (p.Asp800=) c.2016C>T (p.Asp672=) c.2235C>T (p.Asp745=) | |
10 | g.110812798T>A | CA378373799 | RBM20 | c.2401T>A (p.Ser801Thr) c.2017T>A (p.Ser673Thr) c.2236T>A (p.Ser746Thr) | |
10 | g.110812798T>C | CA378373797 | RBM20 | c.2401T>C (p.Ser801Pro) c.2017T>C (p.Ser673Pro) c.2236T>C (p.Ser746Pro) | |
10 | g.110812798T>G | CA378373794 | RBM20 | c.2401T>G (p.Ser801Ala) c.2017T>G (p.Ser673Ala) c.2236T>G (p.Ser746Ala) | |
10 | g.110812799del | CA2789485003 | RBM20 | c.2402del (p.Ser801Ter) c.2018del (p.Ser673Ter) c.2237del (p.Ser746Ter) | |
10 | g.110812799C>A | CA378373802 | RBM20 | c.2402C>A (p.Ser801Ter) c.2018C>A (p.Ser673Ter) c.2237C>A (p.Ser746Ter) | |
10 | g.110812799C>G | CA378373804 | RBM20 | c.2402C>G (p.Ser801Ter) c.2018C>G (p.Ser673Ter) c.2237C>G (p.Ser746Ter) | |
10 | g.110812799C>T | CA378373807 | RBM20 | c.2402C>T (p.Ser801Leu) c.2018C>T (p.Ser673Leu) c.2237C>T (p.Ser746Leu) | |
10 | g.110812800A>C | CA471507101 | RBM20 | c.2403A>C (p.Ser801=) c.2019A>C (p.Ser673=) c.2238A>C (p.Ser746=) | |
10 | g.110812800A>G | CA471507102 | RBM20 | c.2403A>G (p.Ser801=) c.2019A>G (p.Ser673=) c.2238A>G (p.Ser746=) | gnomAD v4 |
10 | g.110812800A>T | CA471507103 | RBM20 | c.2403A>T (p.Ser801=) c.2019A>T (p.Ser673=) c.2238A>T (p.Ser746=) | |
10 | g.110812801G>A | CA378373811 | RBM20 | c.2404G>A (p.Gly802Ser) c.2020G>A (p.Gly674Ser) c.2239G>A (p.Gly747Ser) | |
10 | g.110812801G>C | CA378373813 | RBM20 | c.2404G>C (p.Gly802Arg) c.2020G>C (p.Gly674Arg) c.2239G>C (p.Gly747Arg) | |
10 | g.110812801G>T | CA378373815 | RBM20 | c.2404G>T (p.Gly802Cys) c.2020G>T (p.Gly674Cys) c.2239G>T (p.Gly747Cys) | |
10 | g.110812802G>A | CA378373818 | RBM20 | c.2405G>A (p.Gly802Asp) c.2021G>A (p.Gly674Asp) c.2240G>A (p.Gly747Asp) | |
10 | g.110812802G>C | CA378373825 | RBM20 | c.2405G>C (p.Gly802Ala) c.2021G>C (p.Gly674Ala) c.2240G>C (p.Gly747Ala) | |
10 | g.110812802G>T | CA378373826 | RBM20 | c.2405G>T (p.Gly802Val) c.2021G>T (p.Gly674Val) c.2240G>T (p.Gly747Val) | |
10 | g.110812803C>A | CA471507109 | RBM20 | c.2406C>A (p.Gly802=) c.2022C>A (p.Gly674=) c.2241C>A (p.Gly747=) | |
10 | g.110812803C>G | CA471507110 | RBM20 | c.2406C>G (p.Gly802=) c.2022C>G (p.Gly674=) c.2241C>G (p.Gly747=) | |
10 | g.110812803C>T | CA471507111 | RBM20 | c.2406C>T (p.Gly802=) c.2022C>T (p.Gly674=) c.2241C>T (p.Gly747=) | |
10 | g.110812804A>C | CA378373829 | RBM20 | c.2407A>C (p.Lys803Gln) c.2023A>C (p.Lys675Gln) c.2242A>C (p.Lys748Gln) | |
10 | g.110812804A>G | CA378373832 | RBM20 | c.2407A>G (p.Lys803Glu) c.2023A>G (p.Lys675Glu) c.2242A>G (p.Lys748Glu) | gnomAD v4 |
10 | g.110812804A>T | CA378373835 | RBM20 | c.2407A>T (p.Lys803Ter) c.2023A>T (p.Lys675Ter) c.2242A>T (p.Lys748Ter) | |
10 | g.110812805A>C | CA378373844 | RBM20 | c.2408A>C (p.Lys803Thr) c.2024A>C (p.Lys675Thr) c.2243A>C (p.Lys748Thr) | |
10 | g.110812805A>G | CA378373841 | RBM20 | c.2408A>G (p.Lys803Arg) c.2024A>G (p.Lys675Arg) c.2243A>G (p.Lys748Arg) | |
10 | g.110812805A>T | CA378373838 | RBM20 | c.2408A>T (p.Lys803Met) c.2024A>T (p.Lys675Met) c.2243A>T (p.Lys748Met) | |
10 | g.110812806G>A | CA471507115 | RBM20 | c.2409G>A (p.Lys803=) c.2025G>A (p.Lys675=) c.2244G>A (p.Lys748=) | |
10 | g.110812806G>C | CA378373847 | RBM20 | c.2409G>C (p.Lys803Asn) c.2025G>C (p.Lys675Asn) c.2244G>C (p.Lys748Asn) | |
10 | g.110812806G>T | CA378373850 | RBM20 | c.2409G>T (p.Lys803Asn) c.2025G>T (p.Lys675Asn) c.2244G>T (p.Lys748Asn) | |
10 | g.110812807G>A | CA213224349 | RBM20 | c.2410G>A (p.Glu804Lys) c.2026G>A (p.Glu676Lys) c.2245G>A (p.Glu749Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812807G>C | CA378373853 | RBM20 | c.2410G>C (p.Glu804Gln) c.2026G>C (p.Glu676Gln) c.2245G>C (p.Glu749Gln) | |
10 | g.110812807G>T | CA378373856 | RBM20 | c.2410G>T (p.Glu804Ter) c.2026G>T (p.Glu676Ter) c.2245G>T (p.Glu749Ter) | |
10 | g.110812808A>C | CA378373858 | RBM20 | c.2411A>C (p.Glu804Ala) c.2027A>C (p.Glu676Ala) c.2246A>C (p.Glu749Ala) | |
10 | g.110812808A>G | CA378373861 | RBM20 | c.2411A>G (p.Glu804Gly) c.2027A>G (p.Glu676Gly) c.2246A>G (p.Glu749Gly) | |
10 | g.110812808A>T | CA378373862 | RBM20 | c.2411A>T (p.Glu804Val) c.2027A>T (p.Glu676Val) c.2246A>T (p.Glu749Val) | |
10 | g.110812809A>C | CA378373867 | RBM20 | c.2412A>C (p.Glu804Asp) c.2028A>C (p.Glu676Asp) c.2247A>C (p.Glu749Asp) | |
10 | g.110812809A>G | CA471507116 | RBM20 | c.2412A>G (p.Glu804=) c.2028A>G (p.Glu676=) c.2247A>G (p.Glu749=) | |
10 | g.110812809A>T | CA378373870 | RBM20 | c.2412A>T (p.Glu804Asp) c.2028A>T (p.Glu676Asp) c.2247A>T (p.Glu749Asp) | |
10 | g.110812810G>A | CA378373874 | RBM20 | c.2413G>A (p.Asp805Asn) c.2029G>A (p.Asp677Asn) c.2248G>A (p.Asp750Asn) | |
10 | g.110812810G>C | CA378373876 | RBM20 | c.2413G>C (p.Asp805His) c.2029G>C (p.Asp677His) c.2248G>C (p.Asp750His) | |
10 | g.110812810G>T | CA378373878 | RBM20 | c.2413G>T (p.Asp805Tyr) c.2029G>T (p.Asp677Tyr) c.2248G>T (p.Asp750Tyr) | |
10 | g.110812811A>C | CA378373887 | RBM20 | c.2414A>C (p.Asp805Ala) c.2030A>C (p.Asp677Ala) c.2249A>C (p.Asp750Ala) | |
10 | g.110812811A>G | CA378373898 | RBM20 | c.2414A>G (p.Asp805Gly) c.2030A>G (p.Asp677Gly) c.2249A>G (p.Asp750Gly) | |
10 | g.110812811A>T | CA378373884 | RBM20 | c.2414A>T (p.Asp805Val) c.2030A>T (p.Asp677Val) c.2249A>T (p.Asp750Val) | ClinVar dbSNP |
10 | g.110812812T>A | CA378373904 | RBM20 | c.2415T>A (p.Asp805Glu) c.2031T>A (p.Asp677Glu) c.2250T>A (p.Asp750Glu) | |
10 | g.110812812T>C | CA471507119 | RBM20 | c.2415T>C (p.Asp805=) c.2031T>C (p.Asp677=) c.2250T>C (p.Asp750=) | gnomAD v4 |
10 | g.110812812T>G | CA378373902 | RBM20 | c.2415T>G (p.Asp805Glu) c.2031T>G (p.Asp677Glu) c.2250T>G (p.Asp750Glu) | |
10 | g.110812813G>A | CA5688690 | RBM20 | c.2416G>A (p.Gly806Arg) c.2032G>A (p.Gly678Arg) c.2251G>A (p.Gly751Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812813G>C | CA378373910 | RBM20 | c.2416G>C (p.Gly806Arg) c.2032G>C (p.Gly678Arg) c.2251G>C (p.Gly751Arg) | |
10 | g.110812813G>T | CA378373912 | RBM20 | c.2416G>T (p.Gly806Trp) c.2032G>T (p.Gly678Trp) c.2251G>T (p.Gly751Trp) | |
10 | g.110812814G>A | CA378373913 | RBM20 | c.2417G>A (p.Gly806Glu) c.2033G>A (p.Gly678Glu) c.2252G>A (p.Gly751Glu) | |
10 | g.110812814G>C | CA378373914 | RBM20 | c.2417G>C (p.Gly806Ala) c.2033G>C (p.Gly678Ala) c.2252G>C (p.Gly751Ala) | |
10 | g.110812814G>T | CA378373915 | RBM20 | c.2417G>T (p.Gly806Val) c.2033G>T (p.Gly678Val) c.2252G>T (p.Gly751Val) | |
10 | g.110812815G>A | CA471507126 | RBM20 | c.2418G>A (p.Gly806=) c.2034G>A (p.Gly678=) c.2253G>A (p.Gly751=) | gnomAD v4 |
10 | g.110812815G>C | CA471507127 | RBM20 | c.2418G>C (p.Gly806=) c.2034G>C (p.Gly678=) c.2253G>C (p.Gly751=) | |
10 | g.110812815G>T | CA471507125 | RBM20 | c.2418G>T (p.Gly806=) c.2034G>T (p.Gly678=) c.2253G>T (p.Gly751=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812816C>A | CA378373919 | RBM20 | c.2419C>A (p.Leu807Met) c.2035C>A (p.Leu679Met) c.2254C>A (p.Leu752Met) | |
10 | g.110812816C>G | CA378373917 | RBM20 | c.2419C>G (p.Leu807Val) c.2035C>G (p.Leu679Val) c.2254C>G (p.Leu752Val) | |
10 | g.110812816C>T | CA471507128 | RBM20 | c.2419C>T (p.Leu807=) c.2035C>T (p.Leu679=) c.2254C>T (p.Leu752=) | dbSNP |
10 | g.110812817T>A | CA378373923 | RBM20 | c.2420T>A (p.Leu807Gln) c.2036T>A (p.Leu679Gln) c.2255T>A (p.Leu752Gln) | |
10 | g.110812817T>C | CA378373926 | RBM20 | c.2420T>C (p.Leu807Pro) c.2036T>C (p.Leu679Pro) c.2255T>C (p.Leu752Pro) | |
10 | g.110812817T>G | CA378373929 | RBM20 | c.2420T>G (p.Leu807Arg) c.2036T>G (p.Leu679Arg) c.2255T>G (p.Leu752Arg) | |
10 | g.110812818G>A | CA471507132 | RBM20 | c.2421G>A (p.Leu807=) c.2037G>A (p.Leu679=) c.2256G>A (p.Leu752=) | |
10 | g.110812818G>C | CA471507134 | RBM20 | c.2421G>C (p.Leu807=) c.2037G>C (p.Leu679=) c.2256G>C (p.Leu752=) | |
10 | g.110812818G>T | CA471507135 | RBM20 | c.2421G>T (p.Leu807=) c.2037G>T (p.Leu679=) c.2256G>T (p.Leu752=) | dbSNP |
10 | g.110812819G>A | CA378373931 | RBM20 | c.2422G>A (p.Gly808Arg) c.2038G>A (p.Gly680Arg) c.2257G>A (p.Gly753Arg) | |
10 | g.110812819G>C | CA378373933 | RBM20 | c.2422G>C (p.Gly808Arg) c.2038G>C (p.Gly680Arg) c.2257G>C (p.Gly753Arg) | |
10 | g.110812819G>T | CA378373935 | RBM20 | c.2422G>T (p.Gly808Trp) c.2038G>T (p.Gly680Trp) c.2257G>T (p.Gly753Trp) | ClinVar dbSNP |
10 | g.110812820G>A | CA378373937 | RBM20 | c.2423G>A (p.Gly808Glu) c.2039G>A (p.Gly680Glu) c.2258G>A (p.Gly753Glu) | gnomAD v4 |
10 | g.110812820G>C | CA378373945 | RBM20 | c.2423G>C (p.Gly808Ala) c.2039G>C (p.Gly680Ala) c.2258G>C (p.Gly753Ala) | |
10 | g.110812820G>T | CA378373941 | RBM20 | c.2423G>T (p.Gly808Val) c.2039G>T (p.Gly680Val) c.2258G>T (p.Gly753Val) | |
10 | g.110812821G>A | CA471507139 | RBM20 | c.2424G>A (p.Gly808=) c.2040G>A (p.Gly680=) c.2259G>A (p.Gly753=) | |
10 | g.110812821G>C | CA471507141 | RBM20 | c.2424G>C (p.Gly808=) c.2040G>C (p.Gly680=) c.2259G>C (p.Gly753=) | |
10 | g.110812821G>T | CA471507142 | RBM20 | c.2424G>T (p.Gly808=) c.2040G>T (p.Gly680=) c.2259G>T (p.Gly753=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812822C>A | CA378373948 | RBM20 | c.2425C>A (p.Pro809Thr) c.2041C>A (p.Pro681Thr) c.2260C>A (p.Pro754Thr) | |
10 | g.110812822C>G | CA378373951 | RBM20 | c.2425C>G (p.Pro809Ala) c.2041C>G (p.Pro681Ala) c.2260C>G (p.Pro754Ala) | gnomAD v4 |
10 | g.110812822C>T | CA378373952 | RBM20 | c.2425C>T (p.Pro809Ser) c.2041C>T (p.Pro681Ser) c.2260C>T (p.Pro754Ser) | gnomAD v4 |
10 | g.110812823C>A | CA378373960 | RBM20 | c.2426C>A (p.Pro809Gln) c.2042C>A (p.Pro681Gln) c.2261C>A (p.Pro754Gln) | |
10 | g.110812823C>G | CA378373963 | RBM20 | c.2426C>G (p.Pro809Arg) c.2042C>G (p.Pro681Arg) c.2261C>G (p.Pro754Arg) | |
10 | g.110812823C>T | CA378373965 | RBM20 | c.2426C>T (p.Pro809Leu) c.2042C>T (p.Pro681Leu) c.2261C>T (p.Pro754Leu) | |
10 | g.110812824A>C | CA471507143 | RBM20 | c.2427A>C (p.Pro809=) c.2043A>C (p.Pro681=) c.2262A>C (p.Pro754=) | |
10 | g.110812824A>G | CA213224353 | RBM20 | c.2427A>G (p.Pro809=) c.2043A>G (p.Pro681=) c.2262A>G (p.Pro754=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812824A>T | CA471507145 | RBM20 | c.2427A>T (p.Pro809=) c.2043A>T (p.Pro681=) c.2262A>T (p.Pro754=) | |
10 | g.110812825A>C | CA378373968 | RBM20 | c.2428A>C (p.Lys810Gln) c.2044A>C (p.Lys682Gln) c.2263A>C (p.Lys755Gln) | |
10 | g.110812825A>G | CA5688691 | RBM20 | c.2428A>G (p.Lys810Glu) c.2044A>G (p.Lys682Glu) c.2263A>G (p.Lys755Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812825A>T | CA378373971 | RBM20 | c.2428A>T (p.Lys810Ter) c.2044A>T (p.Lys682Ter) c.2263A>T (p.Lys755Ter) | |
10 | g.110812826A>C | CA378373973 | RBM20 | c.2429A>C (p.Lys810Thr) c.2045A>C (p.Lys682Thr) c.2264A>C (p.Lys755Thr) | |
10 | g.110812826A>G | CA378373975 | RBM20 | c.2429A>G (p.Lys810Arg) c.2045A>G (p.Lys682Arg) c.2264A>G (p.Lys755Arg) | |
10 | g.110812826A>T | CA378373978 | RBM20 | c.2429A>T (p.Lys810Met) c.2045A>T (p.Lys682Met) c.2264A>T (p.Lys755Met) | |
10 | g.110812827G>A | CA471507151 | RBM20 | c.2430G>A (p.Lys810=) c.2046G>A (p.Lys682=) c.2265G>A (p.Lys755=) | |
10 | g.110812827G>C | CA378373982 | RBM20 | c.2430G>C (p.Lys810Asn) c.2046G>C (p.Lys682Asn) c.2265G>C (p.Lys755Asn) | |
10 | g.110812827G>T | CA378373983 | RBM20 | c.2430G>T (p.Lys810Asn) c.2046G>T (p.Lys682Asn) c.2265G>T (p.Lys755Asn) | |
10 | g.110812828G>A | CA378373985 | RBM20 | c.2431G>A (p.Val811Ile) c.2047G>A (p.Val683Ile) c.2266G>A (p.Val756Ile) | |
10 | g.110812828G>C | CA378373988 | RBM20 | c.2431G>C (p.Val811Leu) c.2047G>C (p.Val683Leu) c.2266G>C (p.Val756Leu) | |
10 | g.110812828G>T | CA378373991 | RBM20 | c.2431G>T (p.Val811Phe) c.2047G>T (p.Val683Phe) c.2266G>T (p.Val756Phe) | |
10 | g.110812829T>A | CA378373994 | RBM20 | c.2432T>A (p.Val811Asp) c.2048T>A (p.Val683Asp) c.2267T>A (p.Val756Asp) | |
10 | g.110812829T>C | CA378373997 | RBM20 | c.2432T>C (p.Val811Ala) c.2048T>C (p.Val683Ala) c.2267T>C (p.Val756Ala) | |
10 | g.110812829T>G | CA378374000 | RBM20 | c.2432T>G (p.Val811Gly) c.2048T>G (p.Val683Gly) c.2267T>G (p.Val756Gly) | |
10 | g.110812830C>A | CA471507158 | RBM20 | c.2433C>A (p.Val811=) c.2049C>A (p.Val683=) c.2268C>A (p.Val756=) | gnomAD v4 |
10 | g.110812830C>G | CA471507159 | RBM20 | c.2433C>G (p.Val811=) c.2049C>G (p.Val683=) c.2268C>G (p.Val756=) | |
10 | g.110812830C>T | CA471507160 | RBM20 | c.2433C>T (p.Val811=) c.2049C>T (p.Val683=) c.2268C>T (p.Val756=) | |
10 | g.110812831A>C | CA378374008 | RBM20 | c.2434A>C (p.Thr812Pro) c.2050A>C (p.Thr684Pro) c.2269A>C (p.Thr757Pro) | ClinVar dbSNP |
10 | g.110812831A>G | CA378374006 | RBM20 | c.2434A>G (p.Thr812Ala) c.2050A>G (p.Thr684Ala) c.2269A>G (p.Thr757Ala) | gnomAD v4 |
10 | g.110812831A>T | CA378374004 | RBM20 | c.2434A>T (p.Thr812Ser) c.2050A>T (p.Thr684Ser) c.2269A>T (p.Thr757Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.110812832C>A | CA378374012 | RBM20 | c.2435C>A (p.Thr812Asn) c.2051C>A (p.Thr684Asn) c.2270C>A (p.Thr757Asn) | |
10 | g.110812832C>G | CA378374014 | RBM20 | c.2435C>G (p.Thr812Ser) c.2051C>G (p.Thr684Ser) c.2270C>G (p.Thr757Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812832C>T | CA378374024 | RBM20 | c.2435C>T (p.Thr812Ile) c.2051C>T (p.Thr684Ile) c.2270C>T (p.Thr757Ile) | ClinVar |
10 | g.110812833_110812839del | CA658797539 | RBM20 | c.2436_2442del (p.Arg813LeufsTer?) c.2052_2058del (p.Arg685LeufsTer?) c.2271_2277del (p.Arg758LeufsTer?) | ClinVar dbSNP |
10 | g.110812833T>A | CA5688692 | RBM20 | c.2436T>A (p.Thr812=) c.2052T>A (p.Thr684=) c.2271T>A (p.Thr757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812833T>C | CA471507163 | RBM20 | c.2436T>C (p.Thr812=) c.2052T>C (p.Thr684=) c.2271T>C (p.Thr757=) | |
10 | g.110812833T>G | CA471507166 | RBM20 | c.2436T>G (p.Thr812=) c.2052T>G (p.Thr684=) c.2271T>G (p.Thr757=) | |
10 | g.110812834del | CA2574667569 | RBM20 | c.2437del (p.Arg813GlyfsTer?) c.2053del (p.Arg685GlyfsTer?) c.2272del (p.Arg758GlyfsTer?) | |
10 | g.110812834A>C | CA471507167 | RBM20 | c.2437A>C (p.Arg813=) c.2053A>C (p.Arg685=) c.2272A>C (p.Arg758=) | |
10 | g.110812834A>G | CA378374032 | RBM20 | c.2437A>G (p.Arg813Gly) c.2053A>G (p.Arg685Gly) c.2272A>G (p.Arg758Gly) | ClinVar dbSNP |
10 | g.110812834A>T | CA378374036 | RBM20 | c.2437A>T (p.Arg813Trp) c.2053A>T (p.Arg685Trp) c.2272A>T (p.Arg758Trp) | |
10 | g.110812835G>A | CA378374040 | RBM20 | c.2438G>A (p.Arg813Lys) c.2054G>A (p.Arg685Lys) c.2273G>A (p.Arg758Lys) | gnomAD v4 |
10 | g.110812835G>C | CA378374045 | RBM20 | c.2438G>C (p.Arg813Thr) c.2054G>C (p.Arg685Thr) c.2273G>C (p.Arg758Thr) | |
10 | g.110812835G>T | CA378374043 | RBM20 | c.2438G>T (p.Arg813Met) c.2054G>T (p.Arg685Met) c.2273G>T (p.Arg758Met) | |
10 | g.110812836G>A | CA471507174 | RBM20 | c.2439G>A (p.Arg813=) c.2055G>A (p.Arg685=) c.2274G>A (p.Arg758=) | |
10 | g.110812836G>C | CA378374049 | RBM20 | c.2439G>C (p.Arg813Ser) c.2055G>C (p.Arg685Ser) c.2274G>C (p.Arg758Ser) | |
10 | g.110812836G>T | CA378374051 | RBM20 | c.2439G>T (p.Arg813Ser) c.2055G>T (p.Arg685Ser) c.2274G>T (p.Arg758Ser) | |
10 | g.110812837G>A | CA378374054 | RBM20 | c.2440G>A (p.Ala814Thr) c.2056G>A (p.Ala686Thr) c.2275G>A (p.Ala759Thr) | |
10 | g.110812837G>C | CA378374057 | RBM20 | c.2440G>C (p.Ala814Pro) c.2056G>C (p.Ala686Pro) c.2275G>C (p.Ala759Pro) | |
10 | g.110812837G>T | CA378374059 | RBM20 | c.2440G>T (p.Ala814Ser) c.2056G>T (p.Ala686Ser) c.2275G>T (p.Ala759Ser) | |
10 | g.110812840_110812851del | CA2573145562 | RBM20 | c.2443_2454del (p.Pro815_Ala818del) c.2059_2070del (p.Pro687_Ala690del) c.2278_2289del (p.Pro760_Ala763del) | ClinVar dbSNP |
10 | g.110812838C>A | CA378374064 | RBM20 | c.2441C>A (p.Ala814Asp) c.2057C>A (p.Ala686Asp) c.2276C>A (p.Ala759Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812838C>G | CA378374067 | RBM20 | c.2441C>G (p.Ala814Gly) c.2057C>G (p.Ala686Gly) c.2276C>G (p.Ala759Gly) | |
10 | g.110812838C>T | CA378374068 | RBM20 | c.2441C>T (p.Ala814Val) c.2057C>T (p.Ala686Val) c.2276C>T (p.Ala759Val) | dbSNP |
10 | g.110812839C>A | CA471507178 | RBM20 | c.2442C>A (p.Ala814=) c.2058C>A (p.Ala686=) c.2277C>A (p.Ala759=) | |
10 | g.110812839C>G | CA471507179 | RBM20 | c.2442C>G (p.Ala814=) c.2058C>G (p.Ala686=) c.2277C>G (p.Ala759=) | |
10 | g.110812839C>T | CA471507180 | RBM20 | c.2442C>T (p.Ala814=) c.2058C>T (p.Ala686=) c.2277C>T (p.Ala759=) | |
10 | g.110812840C>A | CA378374069 | RBM20 | c.2443C>A (p.Pro815Thr) c.2059C>A (p.Pro687Thr) c.2278C>A (p.Pro760Thr) | dbSNP |
10 | g.110812840C>G | CA378374070 | RBM20 | c.2443C>G (p.Pro815Ala) c.2059C>G (p.Pro687Ala) c.2278C>G (p.Pro760Ala) | |
10 | g.110812840C>T | CA378374072 | RBM20 | c.2443C>T (p.Pro815Ser) c.2059C>T (p.Pro687Ser) c.2278C>T (p.Pro760Ser) | dbSNP |
10 | g.110812841C>A | CA378374085 | RBM20 | c.2444C>A (p.Pro815His) c.2060C>A (p.Pro687His) c.2279C>A (p.Pro760His) | |
10 | g.110812841C>G | CA378374078 | RBM20 | c.2444C>G (p.Pro815Arg) c.2060C>G (p.Pro687Arg) c.2279C>G (p.Pro760Arg) | |
10 | g.110812841C>T | CA378374081 | RBM20 | c.2444C>T (p.Pro815Leu) c.2060C>T (p.Pro687Leu) c.2279C>T (p.Pro760Leu) | |
10 | g.110812842T>A | CA471507183 | RBM20 | c.2445T>A (p.Pro815=) c.2061T>A (p.Pro687=) c.2280T>A (p.Pro760=) | |
10 | g.110812842T>C | CA471507184 | RBM20 | c.2445T>C (p.Pro815=) c.2061T>C (p.Pro687=) c.2280T>C (p.Pro760=) | |
10 | g.110812842T>G | CA471507185 | RBM20 | c.2445T>G (p.Pro815=) c.2061T>G (p.Pro687=) c.2280T>G (p.Pro760=) | |
10 | g.110812843G>A | CA378374092 | RBM20 | c.2446G>A (p.Glu816Lys) c.2062G>A (p.Glu688Lys) c.2281G>A (p.Glu761Lys) | |
10 | g.110812843G>C | CA378374095 | RBM20 | c.2446G>C (p.Glu816Gln) c.2062G>C (p.Glu688Gln) c.2281G>C (p.Glu761Gln) | |
10 | g.110812843G>T | CA378374099 | RBM20 | c.2446G>T (p.Glu816Ter) c.2062G>T (p.Glu688Ter) c.2281G>T (p.Glu761Ter) | gnomAD v4 |
10 | g.110812844A>C | CA378374108 | RBM20 | c.2447A>C (p.Glu816Ala) c.2063A>C (p.Glu688Ala) c.2282A>C (p.Glu761Ala) | |
10 | g.110812844A>G | CA378374111 | RBM20 | c.2447A>G (p.Glu816Gly) c.2063A>G (p.Glu688Gly) c.2282A>G (p.Glu761Gly) | |
10 | g.110812844A>T | CA378374112 | RBM20 | c.2447A>T (p.Glu816Val) c.2063A>T (p.Glu688Val) c.2282A>T (p.Glu761Val) | |
10 | g.110812845G>A | CA471507191 | RBM20 | c.2448G>A (p.Glu816=) c.2064G>A (p.Glu688=) c.2283G>A (p.Glu761=) | ClinVar dbSNP |
10 | g.110812845G>C | CA378374116 | RBM20 | c.2448G>C (p.Glu816Asp) c.2064G>C (p.Glu688Asp) c.2283G>C (p.Glu761Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812845G>T | CA378374119 | RBM20 | c.2448G>T (p.Glu816Asp) c.2064G>T (p.Glu688Asp) c.2283G>T (p.Glu761Asp) | |
10 | g.110812846G>A | CA378374124 | RBM20 | c.2449G>A (p.Gly817Ser) c.2065G>A (p.Gly689Ser) c.2284G>A (p.Gly762Ser) | |
10 | g.110812846G>C | CA378374126 | RBM20 | c.2449G>C (p.Gly817Arg) c.2065G>C (p.Gly689Arg) c.2284G>C (p.Gly762Arg) | |
10 | g.110812846G>T | CA378374129 | RBM20 | c.2449G>T (p.Gly817Cys) c.2065G>T (p.Gly689Cys) c.2284G>T (p.Gly762Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812847G>A | CA378374133 | RBM20 | c.2450G>A (p.Gly817Asp) c.2066G>A (p.Gly689Asp) c.2285G>A (p.Gly762Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812847G>C | CA378374137 | RBM20 | c.2450G>C (p.Gly817Ala) c.2066G>C (p.Gly689Ala) c.2285G>C (p.Gly762Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812847G>T | CA378374149 | RBM20 | c.2450G>T (p.Gly817Val) c.2066G>T (p.Gly689Val) c.2285G>T (p.Gly762Val) | gnomAD v4 |
10 | g.110812848C>A | CA471507196 | RBM20 | c.2451C>A (p.Gly817=) c.2067C>A (p.Gly689=) c.2286C>A (p.Gly762=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812848C>G | CA471507198 | RBM20 | c.2451C>G (p.Gly817=) c.2067C>G (p.Gly689=) c.2286C>G (p.Gly762=) | |
10 | g.110812848C>T | CA471507200 | RBM20 | c.2451C>T (p.Gly817=) c.2067C>T (p.Gly689=) c.2286C>T (p.Gly762=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812849G>A | CA5688693 | RBM20 | c.2452G>A (p.Ala818Thr) c.2068G>A (p.Ala690Thr) c.2287G>A (p.Ala763Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.110812849G>C | CA378374168 | RBM20 | c.2452G>C (p.Ala818Pro) c.2068G>C (p.Ala690Pro) c.2287G>C (p.Ala763Pro) | |
10 | g.110812849G>T | CA133316 | RBM20 | c.2452G>T (p.Ala818Ser) c.2068G>T (p.Ala690Ser) c.2287G>T (p.Ala763Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812850C>A | CA378374174 | RBM20 | c.2453C>A (p.Ala818Asp) c.2069C>A (p.Ala690Asp) c.2288C>A (p.Ala763Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812850C>G | CA378374176 | RBM20 | c.2453C>G (p.Ala818Gly) c.2069C>G (p.Ala690Gly) c.2288C>G (p.Ala763Gly) | |
10 | g.110812850C>T | CA378374180 | RBM20 | c.2453C>T (p.Ala818Val) c.2069C>T (p.Ala690Val) c.2288C>T (p.Ala763Val) | |
10 | g.110812851C>A | CA471507205 | RBM20 | c.2454C>A (p.Ala818=) c.2070C>A (p.Ala690=) c.2289C>A (p.Ala763=) | |
10 | g.110812851C>G | CA471507206 | RBM20 | c.2454C>G (p.Ala818=) c.2070C>G (p.Ala690=) c.2289C>G (p.Ala763=) | |
10 | g.110812851C>T | CA471507203 | RBM20 | c.2454C>T (p.Ala818=) c.2070C>T (p.Ala690=) c.2289C>T (p.Ala763=) | |
10 | g.110812852A>C | CA378374184 | RBM20 | c.2455A>C (p.Lys819Gln) c.2071A>C (p.Lys691Gln) c.2290A>C (p.Lys764Gln) | |
10 | g.110812852A>G | CA378374186 | RBM20 | c.2455A>G (p.Lys819Glu) c.2071A>G (p.Lys691Glu) c.2290A>G (p.Lys764Glu) | |
10 | g.110812852A>T | CA378374190 | RBM20 | c.2455A>T (p.Lys819Ter) c.2071A>T (p.Lys691Ter) c.2290A>T (p.Lys764Ter) | |
10 | g.110812853A>C | CA378374193 | RBM20 | c.2456A>C (p.Lys819Thr) c.2072A>C (p.Lys691Thr) c.2291A>C (p.Lys764Thr) | |
10 | g.110812853A>G | CA378374196 | RBM20 | c.2456A>G (p.Lys819Arg) c.2072A>G (p.Lys691Arg) c.2291A>G (p.Lys764Arg) | |
10 | g.110812853A>T | CA378374199 | RBM20 | c.2456A>T (p.Lys819Met) c.2072A>T (p.Lys691Met) c.2291A>T (p.Lys764Met) | |
10 | g.110812854G>A | CA471507209 | RBM20 | c.2457G>A (p.Lys819=) c.2073G>A (p.Lys691=) c.2292G>A (p.Lys764=) | |
10 | g.110812854G>C | CA378374203 | RBM20 | c.2457G>C (p.Lys819Asn) c.2073G>C (p.Lys691Asn) c.2292G>C (p.Lys764Asn) | |
10 | g.110812854G>T | CA378374206 | RBM20 | c.2457G>T (p.Lys819Asn) c.2073G>T (p.Lys691Asn) c.2292G>T (p.Lys764Asn) | |
10 | g.110812854_110812855insCT | CA2789485021 | RBM20 | c.2457_2458insCT (p.Ala820LeufsTer?) c.2073_2074insCT (p.Ala692LeufsTer?) c.2292_2293insCT (p.Ala765LeufsTer?) | |
10 | g.110812855G>A | CA378374209 | RBM20 | c.2458G>A (p.Ala820Thr) c.2074G>A (p.Ala692Thr) c.2293G>A (p.Ala765Thr) | |
10 | g.110812855G>C | CA378374213 | RBM20 | c.2458G>C (p.Ala820Pro) c.2074G>C (p.Ala692Pro) c.2293G>C (p.Ala765Pro) | |
10 | g.110812855G>T | CA213224379 | RBM20 | c.2458G>T (p.Ala820Ser) c.2074G>T (p.Ala692Ser) c.2293G>T (p.Ala765Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812856C>A | CA378374219 | RBM20 | c.2459C>A (p.Ala820Asp) c.2075C>A (p.Ala692Asp) c.2294C>A (p.Ala765Asp) | gnomAD v4 |
10 | g.110812856C>G | CA378374220 | RBM20 | c.2459C>G (p.Ala820Gly) c.2075C>G (p.Ala692Gly) c.2294C>G (p.Ala765Gly) | |
10 | g.110812856C>T | CA378374217 | RBM20 | c.2459C>T (p.Ala820Val) c.2075C>T (p.Ala692Val) c.2294C>T (p.Ala765Val) | gnomAD v4 |
10 | g.110812857C>A | CA471507216 | RBM20 | c.2460C>A (p.Ala820=) c.2076C>A (p.Ala692=) c.2295C>A (p.Ala765=) | gnomAD v4 |
10 | g.110812857C>G | CA471507218 | RBM20 | c.2460C>G (p.Ala820=) c.2076C>G (p.Ala692=) c.2295C>G (p.Ala765=) | |
10 | g.110812857C>T | CA471507213 | RBM20 | c.2460C>T (p.Ala820=) c.2076C>T (p.Ala692=) c.2295C>T (p.Ala765=) | |
10 | g.110812858A>C | CA378374222 | RBM20 | c.2461A>C (p.Lys821Gln) c.2077A>C (p.Lys693Gln) c.2296A>C (p.Lys766Gln) | |
10 | g.110812858A>G | CA378374224 | RBM20 | c.2461A>G (p.Lys821Glu) c.2077A>G (p.Lys693Glu) c.2296A>G (p.Lys766Glu) | |
10 | g.110812858A>T | CA378374235 | RBM20 | c.2461A>T (p.Lys821Ter) c.2077A>T (p.Lys693Ter) c.2296A>T (p.Lys766Ter) | |
10 | g.110812859A>C | CA378374237 | RBM20 | c.2462A>C (p.Lys821Thr) c.2078A>C (p.Lys693Thr) c.2297A>C (p.Lys766Thr) | |
10 | g.110812859A>G | CA5688694 | RBM20 | c.2462A>G (p.Lys821Arg) c.2078A>G (p.Lys693Arg) c.2297A>G (p.Lys766Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812859A>T | CA378374242 | RBM20 | c.2462A>T (p.Lys821Met) c.2078A>T (p.Lys693Met) c.2297A>T (p.Lys766Met) | |
10 | g.110812860G>A | CA471507222 | RBM20 | c.2463G>A (p.Lys821=) c.2079G>A (p.Lys693=) c.2298G>A (p.Lys766=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812860G>C | CA378374245 | RBM20 | c.2463G>C (p.Lys821Asn) c.2079G>C (p.Lys693Asn) c.2298G>C (p.Lys766Asn) | |
10 | g.110812860G>T | CA378374247 | RBM20 | c.2463G>T (p.Lys821Asn) c.2079G>T (p.Lys693Asn) c.2298G>T (p.Lys766Asn) | |
10 | g.110812861C>A | CA5688695 | RBM20 | c.2464C>A (p.Gln822Lys) c.2080C>A (p.Gln694Lys) c.2299C>A (p.Gln767Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812861C>G | CA378374250 | RBM20 | c.2464C>G (p.Gln822Glu) c.2080C>G (p.Gln694Glu) c.2299C>G (p.Gln767Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812861C>T | CA378374251 | RBM20 | c.2464C>T (p.Gln822Ter) c.2080C>T (p.Gln694Ter) c.2299C>T (p.Gln767Ter) | |
10 | g.110812862A>C | CA378374252 | RBM20 | c.2465A>C (p.Gln822Pro) c.2081A>C (p.Gln694Pro) c.2300A>C (p.Gln767Pro) | |
10 | g.110812862A>G | CA378374254 | RBM20 | c.2465A>G (p.Gln822Arg) c.2081A>G (p.Gln694Arg) c.2300A>G (p.Gln767Arg) | |
10 | g.110812862A>T | CA378374256 | RBM20 | c.2465A>T (p.Gln822Leu) c.2081A>T (p.Gln694Leu) c.2300A>T (p.Gln767Leu) | |
10 | g.110812863G>A | CA471507227 | RBM20 | c.2466G>A (p.Gln822=) c.2082G>A (p.Gln694=) c.2301G>A (p.Gln767=) | ClinVar |
10 | g.110812863G>C | CA378374262 | RBM20 | c.2466G>C (p.Gln822His) c.2082G>C (p.Gln694His) c.2301G>C (p.Gln767His) | dbSNP gnomAD v4 |
10 | g.110812863G>T | CA378374265 | RBM20 | c.2466G>T (p.Gln822His) c.2082G>T (p.Gln694His) c.2301G>T (p.Gln767His) | |
10 | g.110812864A>C | CA378374270 | RBM20 | c.2467A>C (p.Asn823His) c.2083A>C (p.Asn695His) c.2302A>C (p.Asn768His) | |
10 | g.110812864A>G | CA378374272 | RBM20 | c.2467A>G (p.Asn823Asp) c.2083A>G (p.Asn695Asp) c.2302A>G (p.Asn768Asp) | gnomAD v4 |
10 | g.110812864A>T | CA378374275 | RBM20 | c.2467A>T (p.Asn823Tyr) c.2083A>T (p.Asn695Tyr) c.2302A>T (p.Asn768Tyr) | |
10 | g.110812865A>C | CA378374278 | RBM20 | c.2468A>C (p.Asn823Thr) c.2084A>C (p.Asn695Thr) c.2303A>C (p.Asn768Thr) | |
10 | g.110812865A>G | CA378374280 | RBM20 | c.2468A>G (p.Asn823Ser) c.2084A>G (p.Asn695Ser) c.2303A>G (p.Asn768Ser) | gnomAD v4 |
10 | g.110812865A>T | CA378374283 | RBM20 | c.2468A>T (p.Asn823Ile) c.2084A>T (p.Asn695Ile) c.2303A>T (p.Asn768Ile) | |
10 | g.110812866T>A | CA378374286 | RBM20 | c.2469T>A (p.Asn823Lys) c.2085T>A (p.Asn695Lys) c.2304T>A (p.Asn768Lys) | |
10 | g.110812866T>C | CA471507233 | RBM20 | c.2469T>C (p.Asn823=) c.2085T>C (p.Asn695=) c.2304T>C (p.Asn768=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812866T>G | CA378374289 | RBM20 | c.2469T>G (p.Asn823Lys) c.2085T>G (p.Asn695Lys) c.2304T>G (p.Asn768Lys) | |
10 | g.110812867G>A | CA378374292 | RBM20 | c.2470G>A (p.Glu824Lys) c.2086G>A (p.Glu696Lys) c.2305G>A (p.Glu769Lys) | |
10 | g.110812867G>C | CA378374295 | RBM20 | c.2470G>C (p.Glu824Gln) c.2086G>C (p.Glu696Gln) c.2305G>C (p.Glu769Gln) | |
10 | g.110812867G>T | CA378374297 | RBM20 | c.2470G>T (p.Glu824Ter) c.2086G>T (p.Glu696Ter) c.2305G>T (p.Glu769Ter) | |
10 | g.110812868A>C | CA378374299 | RBM20 | c.2471A>C (p.Glu824Ala) c.2087A>C (p.Glu696Ala) c.2306A>C (p.Glu769Ala) | |
10 | g.110812868A>G | CA378374305 | RBM20 | c.2471A>G (p.Glu824Gly) c.2087A>G (p.Glu696Gly) c.2306A>G (p.Glu769Gly) | |
10 | g.110812868A>T | CA378374302 | RBM20 | c.2471A>T (p.Glu824Val) c.2087A>T (p.Glu696Val) c.2306A>T (p.Glu769Val) | |
10 | g.110812869G>A | CA471507236 | RBM20 | c.2472G>A (p.Glu824=) c.2088G>A (p.Glu696=) c.2307G>A (p.Glu769=) | |
10 | g.110812869G>C | CA378374308 | RBM20 | c.2472G>C (p.Glu824Asp) c.2088G>C (p.Glu696Asp) c.2307G>C (p.Glu769Asp) | |
10 | g.110812869G>T | CA378374312 | RBM20 | c.2472G>T (p.Glu824Asp) c.2088G>T (p.Glu696Asp) c.2307G>T (p.Glu769Asp) | |
10 | g.110812870A>C | CA378374314 | RBM20 | c.2473A>C (p.Lys825Gln) c.2089A>C (p.Lys697Gln) c.2308A>C (p.Lys770Gln) | |
10 | g.110812870A>G | CA378374321 | RBM20 | c.2473A>G (p.Lys825Glu) c.2089A>G (p.Lys697Glu) c.2308A>G (p.Lys770Glu) | |
10 | g.110812870A>T | CA378374316 | RBM20 | c.2473A>T (p.Lys825Ter) c.2089A>T (p.Lys697Ter) c.2308A>T (p.Lys770Ter) | |
10 | g.110812871A>C | CA378374325 | RBM20 | c.2474A>C (p.Lys825Thr) c.2090A>C (p.Lys697Thr) c.2309A>C (p.Lys770Thr) | |
10 | g.110812871A>G | CA378374328 | RBM20 | c.2474A>G (p.Lys825Arg) c.2090A>G (p.Lys697Arg) c.2309A>G (p.Lys770Arg) | |
10 | g.110812871A>T | CA378374330 | RBM20 | c.2474A>T (p.Lys825Ile) c.2090A>T (p.Lys697Ile) c.2309A>T (p.Lys770Ile) | |
10 | g.110812872A>C | CA378374331 | RBM20 | c.2475A>C (p.Lys825Asn) c.2091A>C (p.Lys697Asn) c.2310A>C (p.Lys770Asn) | |
10 | g.110812872A>G | CA471507240 | RBM20 | c.2475A>G (p.Lys825=) c.2091A>G (p.Lys697=) c.2310A>G (p.Lys770=) | |
10 | g.110812872A>T | CA378374333 | RBM20 | c.2475A>T (p.Lys825Asn) c.2091A>T (p.Lys697Asn) c.2310A>T (p.Lys770Asn) | |
10 | g.110812873A>C | CA378374335 | RBM20 | c.2476A>C (p.Asn826His) c.2092A>C (p.Asn698His) c.2311A>C (p.Asn771His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812873A>G | CA378374336 | RBM20 | c.2476A>G (p.Asn826Asp) c.2092A>G (p.Asn698Asp) c.2311A>G (p.Asn771Asp) | |
10 | g.110812873A>T | CA378374339 | RBM20 | c.2476A>T (p.Asn826Tyr) c.2092A>T (p.Asn698Tyr) c.2311A>T (p.Asn771Tyr) |