Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110781057G>A | CA133390 | RBM20 | c.448G>A (p.Ala150Thr) c.64G>A (p.Ala22Thr) c.283G>A (p.Ala95Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110781057G>C | CA378380379 | RBM20 | c.448G>C (p.Ala150Pro) c.64G>C (p.Ala22Pro) c.283G>C (p.Ala95Pro) | |
10 | g.110781057G>T | CA378380374 | RBM20 | c.448G>T (p.Ala150Ser) c.64G>T (p.Ala22Ser) c.283G>T (p.Ala95Ser) | |
10 | g.110781058C>A | CA378380382 | RBM20 | c.449C>A (p.Ala150Asp) c.65C>A (p.Ala22Asp) c.284C>A (p.Ala95Asp) | |
10 | g.110781058C>G | CA378380383 | RBM20 | c.449C>G (p.Ala150Gly) c.65C>G (p.Ala22Gly) c.284C>G (p.Ala95Gly) | |
10 | g.110781058C>T | CA378380390 | RBM20 | c.449C>T (p.Ala150Val) c.65C>T (p.Ala22Val) c.284C>T (p.Ala95Val) | gnomAD v4 |
10 | g.110781059T>A | CA471506553 | RBM20 | c.450T>A (p.Ala150=) c.66T>A (p.Ala22=) c.285T>A (p.Ala95=) | |
10 | g.110781059T>C | CA471506554 | RBM20 | c.450T>C (p.Ala150=) c.66T>C (p.Ala22=) c.285T>C (p.Ala95=) | |
10 | g.110781059T>G | CA471506557 | RBM20 | c.450T>G (p.Ala150=) c.66T>G (p.Ala22=) c.285T>G (p.Ala95=) | |
10 | g.110781060G>A | CA378380396 | RBM20 | c.451G>A (p.Gly151Arg) c.67G>A (p.Gly23Arg) c.286G>A (p.Gly96Arg) | |
10 | g.110781060G>C | CA378380401 | RBM20 | c.451G>C (p.Gly151Arg) c.67G>C (p.Gly23Arg) c.286G>C (p.Gly96Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110781060G>T | CA378380403 | RBM20 | c.451G>T (p.Gly151Trp) c.67G>T (p.Gly23Trp) c.286G>T (p.Gly96Trp) | |
10 | g.110781061G>A | CA378380406 | RBM20 | c.452G>A (p.Gly151Glu) c.68G>A (p.Gly23Glu) c.287G>A (p.Gly96Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.110781061G>C | CA378380411 | RBM20 | c.452G>C (p.Gly151Ala) c.68G>C (p.Gly23Ala) c.287G>C (p.Gly96Ala) | |
10 | g.110781061G>T | CA378380413 | RBM20 | c.452G>T (p.Gly151Val) c.68G>T (p.Gly23Val) c.287G>T (p.Gly96Val) | |
10 | g.110781062G>A | CA471506560 | RBM20 | c.453G>A (p.Gly151=) c.69G>A (p.Gly23=) c.288G>A (p.Gly96=) | |
10 | g.110781062G>C | CA471506561 | RBM20 | c.453G>C (p.Gly151=) c.69G>C (p.Gly23=) c.288G>C (p.Gly96=) | gnomAD v4 |
10 | g.110781062G>T | CA471506562 | RBM20 | c.453G>T (p.Gly151=) c.69G>T (p.Gly23=) c.288G>T (p.Gly96=) | |
10 | g.110781063G>A | CA378380416 | RBM20 | c.454G>A (p.Val152Ile) c.70G>A (p.Val24Ile) c.289G>A (p.Val97Ile) | |
10 | g.110781063G>C | CA378380422 | RBM20 | c.454G>C (p.Val152Leu) c.70G>C (p.Val24Leu) c.289G>C (p.Val97Leu) | |
10 | g.110781063G>T | CA378380425 | RBM20 | c.454G>T (p.Val152Phe) c.70G>T (p.Val24Phe) c.289G>T (p.Val97Phe) | gnomAD v4 |
10 | g.110781064T>A | CA378380430 | RBM20 | c.455T>A (p.Val152Asp) c.71T>A (p.Val24Asp) c.290T>A (p.Val97Asp) | |
10 | g.110781064T>C | CA378380428 | RBM20 | c.455T>C (p.Val152Ala) c.71T>C (p.Val24Ala) c.290T>C (p.Val97Ala) | |
10 | g.110781064T>G | CA378380426 | RBM20 | c.455T>G (p.Val152Gly) c.71T>G (p.Val24Gly) c.290T>G (p.Val97Gly) | |
10 | g.110781065T>A | CA471506567 | RBM20 | c.456T>A (p.Val152=) c.72T>A (p.Val24=) c.291T>A (p.Val97=) | |
10 | g.110781065T>C | CA471506568 | RBM20 | c.456T>C (p.Val152=) c.72T>C (p.Val24=) c.291T>C (p.Val97=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110781065T>G | CA213234634 | RBM20 | c.456T>G (p.Val152=) c.72T>G (p.Val24=) c.291T>G (p.Val97=) | dbSNP |
10 | g.110781066C>A | CA378380438 | RBM20 | c.457C>A (p.Pro153Thr) c.73C>A (p.Pro25Thr) c.292C>A (p.Pro98Thr) | |
10 | g.110781066C>G | CA378380433 | RBM20 | c.457C>G (p.Pro153Ala) c.73C>G (p.Pro25Ala) c.292C>G (p.Pro98Ala) | gnomAD v4 |
10 | g.110781066C>T | CA378380437 | RBM20 | c.457C>T (p.Pro153Ser) c.73C>T (p.Pro25Ser) c.292C>T (p.Pro98Ser) | |
10 | g.110781067C>A | CA378380441 | RBM20 | c.458C>A (p.Pro153His) c.74C>A (p.Pro25His) c.293C>A (p.Pro98His) | |
10 | g.110781067C>G | CA378380446 | RBM20 | c.458C>G (p.Pro153Arg) c.74C>G (p.Pro25Arg) c.293C>G (p.Pro98Arg) | |
10 | g.110781067C>T | CA378380450 | RBM20 | c.458C>T (p.Pro153Leu) c.74C>T (p.Pro25Leu) c.293C>T (p.Pro98Leu) | ClinVar gnomAD v4 |
10 | g.110781068C>A | CA471506577 | RBM20 | c.459C>A (p.Pro153=) c.75C>A (p.Pro25=) c.294C>A (p.Pro98=) | |
10 | g.110781068C>G | CA471506576 | RBM20 | c.459C>G (p.Pro153=) c.75C>G (p.Pro25=) c.294C>G (p.Pro98=) | |
10 | g.110781068C>T | CA471506575 | RBM20 | c.459C>T (p.Pro153=) c.75C>T (p.Pro25=) c.294C>T (p.Pro98=) | gnomAD v4 |
10 | g.110781069C>A | CA378380453 | RBM20 | c.460C>A (p.Gln154Lys) c.76C>A (p.Gln26Lys) c.295C>A (p.Gln99Lys) | |
10 | g.110781069C>G | CA378380455 | RBM20 | c.460C>G (p.Gln154Glu) c.76C>G (p.Gln26Glu) c.295C>G (p.Gln99Glu) | |
10 | g.110781069C>T | CA378380460 | RBM20 | c.460C>T (p.Gln154Ter) c.76C>T (p.Gln26Ter) c.295C>T (p.Gln99Ter) | ClinVar dbSNP COSMIC |
10 | g.110781070A>C | CA378380466 | RBM20 | c.461A>C (p.Gln154Pro) c.77A>C (p.Gln26Pro) c.296A>C (p.Gln99Pro) | |
10 | g.110781070A>G | CA378380480 | RBM20 | c.461A>G (p.Gln154Arg) c.77A>G (p.Gln26Arg) c.296A>G (p.Gln99Arg) | |
10 | g.110781070A>T | CA378380490 | RBM20 | c.461A>T (p.Gln154Leu) c.77A>T (p.Gln26Leu) c.296A>T (p.Gln99Leu) | |
10 | g.110781071A>C | CA378380492 | RBM20 | c.462A>C (p.Gln154His) c.78A>C (p.Gln26His) c.297A>C (p.Gln99His) | |
10 | g.110781071A>G | CA471506581 | RBM20 | c.462A>G (p.Gln154=) c.78A>G (p.Gln26=) c.297A>G (p.Gln99=) | gnomAD v4 |
10 | g.110781071A>T | CA378380496 | RBM20 | c.462A>T (p.Gln154His) c.78A>T (p.Gln26His) c.297A>T (p.Gln99His) | |
10 | g.110781072C>A | CA378380511 | RBM20 | c.463C>A (p.His155Asn) c.79C>A (p.His27Asn) c.298C>A (p.His100Asn) | |
10 | g.110781072C>G | CA378380503 | RBM20 | c.463C>G (p.His155Asp) c.79C>G (p.His27Asp) c.298C>G (p.His100Asp) | |
10 | g.110781072C>T | CA378380507 | RBM20 | c.463C>T (p.His155Tyr) c.79C>T (p.His27Tyr) c.298C>T (p.His100Tyr) | gnomAD v4 |
10 | g.110781073A>C | CA378380513 | RBM20 | c.464A>C (p.His155Pro) c.80A>C (p.His27Pro) c.299A>C (p.His100Pro) | |
10 | g.110781073A>G | CA378380514 | RBM20 | c.464A>G (p.His155Arg) c.80A>G (p.His27Arg) c.299A>G (p.His100Arg) | gnomAD v4 |