Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812768C>A | CA471507041 | RBM20 | c.2371C>A (p.Arg791=) c.1987C>A (p.Arg663=) c.2206C>A (p.Arg736=) | |
10 | g.110812768C>G | CA213224265 | RBM20 | c.2371C>G (p.Arg791Gly) c.1987C>G (p.Arg663Gly) c.2206C>G (p.Arg736Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.110812768C>T | CA213224276 | RBM20 | c.2371C>T (p.Arg791Trp) c.1987C>T (p.Arg663Trp) c.2206C>T (p.Arg736Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812769G>A | CA213224285 | RBM20 | c.2372G>A (p.Arg791Gln) c.1988G>A (p.Arg663Gln) c.2207G>A (p.Arg736Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812769G>C | CA378373608 | RBM20 | c.2372G>C (p.Arg791Pro) c.1988G>C (p.Arg663Pro) c.2207G>C (p.Arg736Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812769G>T | CA5688688 | RBM20 | c.2372G>T (p.Arg791Leu) c.1988G>T (p.Arg663Leu) c.2207G>T (p.Arg736Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812771dup | CA2574667537 | RBM20 | c.2374dup (p.Glu792GlyfsTer9) c.1990dup (p.Glu664GlyfsTer9) c.2209dup (p.Glu737GlyfsTer9) | ClinVar gnomAD v4 |
10 | g.110812771del | CA2610892826 | RBM20 | c.2374del (p.Glu792LysfsTer?) c.1990del (p.Glu664LysfsTer?) c.2209del (p.Glu737LysfsTer?) | gnomAD v4 |
10 | g.110812770_110812771del | CA2610892825 | RBM20 | c.2373_2374del (p.Glu792LysfsTer8) c.1989_1990del (p.Glu664LysfsTer8) c.2208_2209del (p.Glu737LysfsTer8) | gnomAD v4 |
10 | g.110812770G>A | CA213224290 | RBM20 | c.2373G>A (p.Arg791=) c.1989G>A (p.Arg663=) c.2208G>A (p.Arg736=) | dbSNP |
10 | g.110812770G>C | CA471507044 | RBM20 | c.2373G>C (p.Arg791=) c.1989G>C (p.Arg663=) c.2208G>C (p.Arg736=) | |
10 | g.110812770G>T | CA471507045 | RBM20 | c.2373G>T (p.Arg791=) c.1989G>T (p.Arg663=) c.2208G>T (p.Arg736=) | |
10 | g.110812771G>A | CA378373612 | RBM20 | c.2374G>A (p.Glu792Lys) c.1990G>A (p.Glu664Lys) c.2209G>A (p.Glu737Lys) | ClinVar dbSNP |
10 | g.110812771G>C | CA378373613 | RBM20 | c.2374G>C (p.Glu792Gln) c.1990G>C (p.Glu664Gln) c.2209G>C (p.Glu737Gln) | |
10 | g.110812771G>T | CA378373614 | RBM20 | c.2374G>T (p.Glu792Ter) c.1990G>T (p.Glu664Ter) c.2209G>T (p.Glu737Ter) | |
10 | g.110812772A>C | CA378373615 | RBM20 | c.2375A>C (p.Glu792Ala) c.1991A>C (p.Glu664Ala) c.2210A>C (p.Glu737Ala) | |
10 | g.110812772A>G | CA378373617 | RBM20 | c.2375A>G (p.Glu792Gly) c.1991A>G (p.Glu664Gly) c.2210A>G (p.Glu737Gly) | |
10 | g.110812772A>T | CA378373618 | RBM20 | c.2375A>T (p.Glu792Val) c.1991A>T (p.Glu664Val) c.2210A>T (p.Glu737Val) | |
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 |