Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.128485200_128487231del | CA358451 | GATA2 | c.-45-155_871+527del c.238-155_1153+527del | ClinVar |
3 | g.128485206_128487871del | CA916081440 | GATA2 | c.-200_871+527del c.83_1153+527del c.-45-789_871+527del | |
3 | g.128486068G>A | CA354406575 | GATA2 | c.530C>T (p.Pro177Leu) c.812C>T (p.Pro271Leu) | |
3 | g.128486068G>C | CA354406576 | GATA2 | c.530C>G (p.Pro177Arg) c.812C>G (p.Pro271Arg) | |
3 | g.128486068G>T | CA354406577 | GATA2 | c.530C>A (p.Pro177Gln) c.812C>A (p.Pro271Gln) | COSMIC |
3 | g.128486069G>A | CA354406578 | GATA2 | c.529C>T (p.Pro177Ser) c.811C>T (p.Pro271Ser) | COSMIC |
3 | g.128486069G>C | CA354406579 | GATA2 | c.529C>G (p.Pro177Ala) c.811C>G (p.Pro271Ala) | |
3 | g.128486069G>T | CA354406580 | GATA2 | c.529C>A (p.Pro177Thr) c.811C>A (p.Pro271Thr) | |
3 | g.128486070C>A | CA435763691 | GATA2 | c.528G>T (p.Thr176=) c.810G>T (p.Thr270=) | gnomAD v4 |
3 | g.128486070C= | CA1400719371 | GATA2 | c.528G= (p.Thr176=) c.810G= (p.Thr270=) | |
3 | g.128486070C>G | CA435763692 | GATA2 | c.528G>C (p.Thr176=) c.810G>C (p.Thr270=) | gnomAD v4 |
3 | g.128486070C>T | CA2600009 | GATA2 | c.528G>A (p.Thr176=) c.810G>A (p.Thr270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128486070_128486079delinsGGGGGTGGGT | CA2580618225 | GATA2 | c.519_528delinsACCCACCCCC (p.Phe173_Thr176delinsLeuProThrPro) c.801_810delinsACCCACCCCC (p.Phe267_Thr270delinsLeuProThrPro) | |
3 | g.128486070_128486079delinsGTGGGGGGGT | CA2695202628 | GATA2 | c.519_528delinsACCCCCCCAC (p.Phe173_Thr176delinsLeuProProHis) c.801_810delinsACCCCCCCAC (p.Phe267_Thr270delinsLeuProProHis) | |
3 | g.128486071G>A | CA354406581 | GATA2 | c.527C>T (p.Thr176Met) c.809C>T (p.Thr270Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486071G>C | CA354406582 | GATA2 | c.527C>G (p.Thr176Arg) c.809C>G (p.Thr270Arg) | |
3 | g.128486071G= | CA1400719372 | GATA2 | c.527C= (p.Thr176=) c.809C= (p.Thr270=) | |
3 | g.128486071G>T | CA2600010 | GATA2 | c.527C>A (p.Thr176Lys) c.809C>A (p.Thr270Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486072T>A | CA354406584 | GATA2 | c.526A>T (p.Thr176Ser) c.808A>T (p.Thr270Ser) | |
3 | g.128486072T>C | CA354406585 | GATA2 | c.526A>G (p.Thr176Ala) c.808A>G (p.Thr270Ala) | |
3 | g.128486072T>G | CA354406583 | GATA2 | c.526A>C (p.Thr176Pro) c.808A>C (p.Thr270Pro) | ClinVar dbSNP |
3 | g.128486072T= | CA1400719373 | GATA2 | c.526A= (p.Thr176=) c.808A= (p.Thr270=) | |
3 | g.128486073G>A | CA435763694 | GATA2 | c.525C>T (p.Pro175=) c.807C>T (p.Pro269=) | gnomAD v4 |
3 | g.128486073G>C | CA435763695 | GATA2 | c.525C>G (p.Pro175=) c.807C>G (p.Pro269=) | dbSNP |
3 | g.128486073G= | CA1400719374 | GATA2 | c.525C= (p.Pro175=) c.807C= (p.Pro269=) | |
3 | g.128486073G>T | CA435763696 | GATA2 | c.525C>A (p.Pro175=) c.807C>A (p.Pro269=) | gnomAD v4 |
3 | g.128486074G>A | CA354406587 | GATA2 | c.524C>T (p.Pro175Leu) c.806C>T (p.Pro269Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128486074G>C | CA354406586 | GATA2 | c.524C>G (p.Pro175Arg) c.806C>G (p.Pro269Arg) | ClinVar dbSNP |
3 | g.128486074G= | CA1400719375 | GATA2 | c.524C= (p.Pro175=) c.806C= (p.Pro269=) | |
3 | g.128486074G>T | CA2600011 | GATA2 | c.524C>A (p.Pro175His) c.806C>A (p.Pro269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486075G>A | CA2600012 | GATA2 | c.523C>T (p.Pro175Ser) c.805C>T (p.Pro269Ser) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.128486075G>C | CA354406588 | GATA2 | c.523C>G (p.Pro175Ala) c.805C>G (p.Pro269Ala) | gnomAD v4 |
3 | g.128486075G= | CA1400719376 | GATA2 | c.523C= (p.Pro175=) c.805C= (p.Pro269=) | |
3 | g.128486075G>T | CA354406589 | GATA2 | c.523C>A (p.Pro175Thr) c.805C>A (p.Pro269Thr) | |
3 | g.128486076del | CA2740090993 | GATA2 | c.522del (p.Thr176ArgfsTer?) c.804del (p.Thr270ArgfsTer?) | ClinVar |
3 | g.128486076T>A | CA435763698 | GATA2 | c.522A>T (p.Pro174=) c.804A>T (p.Pro268=) | |
3 | g.128486076T>C | CA435763700 | GATA2 | c.522A>G (p.Pro174=) c.804A>G (p.Pro268=) | |
3 | g.128486076T>G | CA435763702 | GATA2 | c.522A>C (p.Pro174=) c.804A>C (p.Pro268=) | dbSNP gnomAD v4 |
3 | g.128486076_128486077insCTGTACACATTTTTTTGGGGGGGGGGGGG | CA2838031898 | GATA2 | c.521_522insCCCCCCCCCCCCCAAAAAAATGTGTACAG (p.Thr176ProfsTer?) c.803_804insCCCCCCCCCCCCCAAAAAAATGTGTACAG (p.Thr270ProfsTer?) | |
3 | g.128486077G>A | CA354406592 | GATA2 | c.521C>T (p.Pro174Leu) c.803C>T (p.Pro268Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486077G>C | CA354406591 | GATA2 | c.521C>G (p.Pro174Arg) c.803C>G (p.Pro268Arg) | |
3 | g.128486077G= | CA1400719377 | GATA2 | c.521C= (p.Pro174=) c.803C= (p.Pro268=) | |
3 | g.128486077G>T | CA354406590 | GATA2 | c.521C>A (p.Pro174Gln) c.803C>A (p.Pro268Gln) | |
3 | g.128486079del | CA2586965912 | GATA2 | c.521del (p.Pro174HisfsTer?) c.803del (p.Pro268HisfsTer?) | |
3 | g.128486078_128486082del | CA2838031936 | GATA2 | c.517_521del (p.Phe173ThrfsTer10) c.799_803del (p.Phe267ThrfsTer10) | |
3 | g.128486078G>A | CA354406593 | GATA2 | c.520C>T (p.Pro174Ser) c.802C>T (p.Pro268Ser) | dbSNP gnomAD v2 |
3 | g.128486078G>C | CA354406594 | GATA2 | c.520C>G (p.Pro174Ala) c.802C>G (p.Pro268Ala) | |
3 | g.128486078G= | CA1400719378 | GATA2 | c.520C= (p.Pro174=) c.802C= (p.Pro268=) | |
3 | g.128486078G>T | CA354406595 | GATA2 | c.520C>A (p.Pro174Thr) c.802C>A (p.Pro268Thr) | |
3 | g.128486079G>A | CA2600013 | GATA2 | c.519C>T (p.Phe173=) c.801C>T (p.Phe267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486079G>C | CA354406596 | GATA2 | c.519C>G (p.Phe173Leu) c.801C>G (p.Phe267Leu) | gnomAD v4 |
3 | g.128486079G= | CA1400719379 | GATA2 | c.519C= (p.Phe173=) c.801C= (p.Phe267=) | |
3 | g.128486079G>T | CA354406597 | GATA2 | c.519C>A (p.Phe173Leu) c.801C>A (p.Phe267Leu) | gnomAD v4 |
3 | g.128486079_128486080insGGGGT | CA2740130129 | GATA2 | c.518_519insACCCC (p.Phe173LeufsTer?) c.800_801insACCCC (p.Phe267LeufsTer?) | |
3 | g.128486080A>C | CA354406598 | GATA2 | c.518T>G (p.Phe173Cys) c.800T>G (p.Phe267Cys) | |
3 | g.128486080A>G | CA354406600 | GATA2 | c.518T>C (p.Phe173Ser) c.800T>C (p.Phe267Ser) | |
3 | g.128486080A>T | CA354406599 | GATA2 | c.518T>A (p.Phe173Tyr) c.800T>A (p.Phe267Tyr) | |
3 | g.128486081A>C | CA354406601 | GATA2 | c.517T>G (p.Phe173Val) c.799T>G (p.Phe267Val) | |
3 | g.128486081A>G | CA354406602 | GATA2 | c.517T>C (p.Phe173Leu) c.799T>C (p.Phe267Leu) | ClinVar dbSNP |
3 | g.128486081A>T | CA354406603 | GATA2 | c.517T>A (p.Phe173Ile) c.799T>A (p.Phe267Ile) | |
3 | g.128486082G>A | CA435763709 | GATA2 | c.516C>T (p.Gly172=) c.798C>T (p.Gly266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486082G>C | CA435763710 | GATA2 | c.516C>G (p.Gly172=) c.798C>G (p.Gly266=) | |
3 | g.128486082G= | CA1400719380 | GATA2 | c.516C= (p.Gly172=) c.798C= (p.Gly266=) | |
3 | g.128486082G>T | CA435763711 | GATA2 | c.516C>A (p.Gly172=) c.798C>A (p.Gly266=) | |
3 | g.128486083C>A | CA354406604 | GATA2 | c.515G>T (p.Gly172Val) c.797G>T (p.Gly266Val) | |
3 | g.128486083C= | CA1400719381 | GATA2 | c.515G= (p.Gly172=) c.797G= (p.Gly266=) | |
3 | g.128486083C>G | CA2600014 | GATA2 | c.515G>C (p.Gly172Ala) c.797G>C (p.Gly266Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486083C>T | CA354406605 | GATA2 | c.515G>A (p.Gly172Asp) c.797G>A (p.Gly266Asp) | |
3 | g.128486084C>A | CA354406606 | GATA2 | c.514G>T (p.Gly172Cys) c.796G>T (p.Gly266Cys) | |
3 | g.128486084C= | CA1400719382 | GATA2 | c.514G= (p.Gly172=) c.796G= (p.Gly266=) | |
3 | g.128486084C>G | CA354406607 | GATA2 | c.514G>C (p.Gly172Arg) c.796G>C (p.Gly266Arg) | |
3 | g.128486084C>T | CA354406608 | GATA2 | c.514G>A (p.Gly172Ser) c.796G>A (p.Gly266Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486085G>A | CA435763717 | GATA2 | c.513C>T (p.Phe171=) c.795C>T (p.Phe265=) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.128486085G>C | CA354406609 | GATA2 | c.513C>G (p.Phe171Leu) c.795C>G (p.Phe265Leu) | |
3 | g.128486085G= | CA1400719383 | GATA2 | c.513C= (p.Phe171=) c.795C= (p.Phe265=) | |
3 | g.128486085G>T | CA354406610 | GATA2 | c.513C>A (p.Phe171Leu) c.795C>A (p.Phe265Leu) | |
3 | g.128486086A>C | CA354406613 | GATA2 | c.512T>G (p.Phe171Cys) c.794T>G (p.Phe265Cys) | |
3 | g.128486086A>G | CA354406612 | GATA2 | c.512T>C (p.Phe171Ser) c.794T>C (p.Phe265Ser) | |
3 | g.128486086A>T | CA354406611 | GATA2 | c.512T>A (p.Phe171Tyr) c.794T>A (p.Phe265Tyr) | ClinVar |
3 | g.128486089del | CA1139770898 | GATA2 | c.512del (p.Phe171SerfsTer?) c.794del (p.Phe265SerfsTer?) | |
3 | g.128486087A>C | CA354406616 | GATA2 | c.511T>G (p.Phe171Val) c.793T>G (p.Phe265Val) | |
3 | g.128486087A>G | CA354406614 | GATA2 | c.511T>C (p.Phe171Leu) c.793T>C (p.Phe265Leu) | |
3 | g.128486087A>T | CA354406615 | GATA2 | c.511T>A (p.Phe171Ile) c.793T>A (p.Phe265Ile) | |
3 | g.128486088A>C | CA435763720 | GATA2 | c.510T>G (p.Leu170=) c.792T>G (p.Leu264=) | ClinVar dbSNP |
3 | g.128486088A>G | CA435763721 | GATA2 | c.510T>C (p.Leu170=) c.792T>C (p.Leu264=) | |
3 | g.128486088A>T | CA435763722 | GATA2 | c.510T>A (p.Leu170=) c.792T>A (p.Leu264=) | |
3 | g.128486089A= | CA1400719384 | GATA2 | c.509T= (p.Leu170=) c.791T= (p.Leu264=) | |
3 | g.128486089A>C | CA354406617 | GATA2 | c.509T>G (p.Leu170Arg) c.791T>G (p.Leu264Arg) | |
3 | g.128486089A>G | CA354406618 | GATA2 | c.509T>C (p.Leu170Pro) c.791T>C (p.Leu264Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486089A>T | CA354406619 | GATA2 | c.509T>A (p.Leu170His) c.791T>A (p.Leu264His) | |
3 | g.128486090G>A | CA354406620 | GATA2 | c.508C>T (p.Leu170Phe) c.790C>T (p.Leu264Phe) | |
3 | g.128486090G>C | CA354406621 | GATA2 | c.508C>G (p.Leu170Val) c.790C>G (p.Leu264Val) | |
3 | g.128486090G= | CA1400719385 | GATA2 | c.508C= (p.Leu170=) c.790C= (p.Leu264=) | |
3 | g.128486090G>T | CA354406622 | GATA2 | c.508C>A (p.Leu170Ile) c.790C>A (p.Leu264Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.128486091G>A | CA435763724 | GATA2 | c.507C>T (p.His169=) c.789C>T (p.His263=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486091G>C | CA354406623 | GATA2 | c.507C>G (p.His169Gln) c.789C>G (p.His263Gln) | |
3 | g.128486091G= | CA1400719386 | GATA2 | c.507C= (p.His169=) c.789C= (p.His263=) | |
3 | g.128486091G>T | CA354406624 | GATA2 | c.507C>A (p.His169Gln) c.789C>A (p.His263Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486092T>A | CA354406625 | GATA2 | c.506A>T (p.His169Leu) c.788A>T (p.His263Leu) | |
3 | g.128486092T>C | CA354406626 | GATA2 | c.506A>G (p.His169Arg) c.788A>G (p.His263Arg) | |
3 | g.128486092T>G | CA354406627 | GATA2 | c.506A>C (p.His169Pro) c.788A>C (p.His263Pro) | dbSNP |
3 | g.128486093G>A | CA354406629 | GATA2 | c.505C>T (p.His169Tyr) c.787C>T (p.His263Tyr) | |
3 | g.128486093G>C | CA354406630 | GATA2 | c.505C>G (p.His169Asp) c.787C>G (p.His263Asp) | |
3 | g.128486093G>T | CA354406628 | GATA2 | c.505C>A (p.His169Asn) c.787C>A (p.His263Asn) | |
3 | g.128486094G>A | CA435763730 | GATA2 | c.504C>T (p.Ser168=) c.786C>T (p.Ser262=) | ClinVar dbSNP |
3 | g.128486094G>C | CA435763731 | GATA2 | c.504C>G (p.Ser168=) c.786C>G (p.Ser262=) | gnomAD v4 |
3 | g.128486094G= | CA1400719387 | GATA2 | c.504C= (p.Ser168=) c.786C= (p.Ser262=) | |
3 | g.128486094G>T | CA435763734 | GATA2 | c.504C>A (p.Ser168=) c.786C>A (p.Ser262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486095G>A | CA2600015 | GATA2 | c.503C>T (p.Ser168Phe) c.785C>T (p.Ser262Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486095G>C | CA354406631 | GATA2 | c.503C>G (p.Ser168Cys) c.785C>G (p.Ser262Cys) | |
3 | g.128486095G= | CA1400719388 | GATA2 | c.503C= (p.Ser168=) c.785C= (p.Ser262=) | |
3 | g.128486095G>T | CA354406632 | GATA2 | c.503C>A (p.Ser168Tyr) c.785C>A (p.Ser262Tyr) | |
3 | g.128486095_128486098dup | CA2837995086 | GATA2 | c.500_503dup (p.His169LeufsTer17) c.782_785dup (p.His263LeufsTer17) | |
3 | g.128486096A= | CA1400719389 | GATA2 | c.502T= (p.Ser168=) c.784T= (p.Ser262=) | |
3 | g.128486096A>C | CA83371955 | GATA2 | c.502T>G (p.Ser168Ala) c.784T>G (p.Ser262Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486096A>G | CA354406633 | GATA2 | c.502T>C (p.Ser168Pro) c.784T>C (p.Ser262Pro) | |
3 | g.128486096A>T | CA354406634 | GATA2 | c.502T>A (p.Ser168Thr) c.784T>A (p.Ser262Thr) | |
3 | g.128486097G>A | CA2600016 | GATA2 | c.501C>T (p.Gly167=) c.783C>T (p.Gly261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486097G>C | CA435763764 | GATA2 | c.501C>G (p.Gly167=) c.783C>G (p.Gly261=) | |
3 | g.128486097G= | CA1400719390 | GATA2 | c.501C= (p.Gly167=) c.783C= (p.Gly261=) | |
3 | g.128486097G>T | CA435763767 | GATA2 | c.501C>A (p.Gly167=) c.783C>A (p.Gly261=) | |
3 | g.128486098C>A | CA354406635 | GATA2 | c.500G>T (p.Gly167Val) c.782G>T (p.Gly261Val) | |
3 | g.128486098C>G | CA354406636 | GATA2 | c.500G>C (p.Gly167Ala) c.782G>C (p.Gly261Ala) | |
3 | g.128486098C>T | CA354406637 | GATA2 | c.500G>A (p.Gly167Asp) c.782G>A (p.Gly261Asp) | |
3 | g.128486099C>A | CA354406638 | GATA2 | c.499G>T (p.Gly167Cys) c.781G>T (p.Gly261Cys) | |
3 | g.128486099C>G | CA354406639 | GATA2 | c.499G>C (p.Gly167Arg) c.781G>C (p.Gly261Arg) | gnomAD v4 |
3 | g.128486099C>T | CA354406640 | GATA2 | c.499G>A (p.Gly167Ser) c.781G>A (p.Gly261Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486100A= | CA1400719391 | GATA2 | c.498T= (p.Ser166=) c.780T= (p.Ser260=) | |
3 | g.128486100A>C | CA435763770 | GATA2 | c.498T>G (p.Ser166=) c.780T>G (p.Ser260=) | |
3 | g.128486100A>G | CA2600017 | GATA2 | c.498T>C (p.Ser166=) c.780T>C (p.Ser260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486100A>T | CA435763774 | GATA2 | c.498T>A (p.Ser166=) c.780T>A (p.Ser260=) | |
3 | g.128486101G>A | CA354406642 | GATA2 | c.497C>T (p.Ser166Phe) c.779C>T (p.Ser260Phe) | |
3 | g.128486101G>C | CA2600018 | GATA2 | c.497C>G (p.Ser166Cys) c.779C>G (p.Ser260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.128486101G= | CA1400719392 | GATA2 | c.497C= (p.Ser166=) c.779C= (p.Ser260=) | |
3 | g.128486101G>T | CA354406641 | GATA2 | c.497C>A (p.Ser166Tyr) c.779C>A (p.Ser260Tyr) | |
3 | g.128486102A>C | CA354406643 | GATA2 | c.496T>G (p.Ser166Ala) c.778T>G (p.Ser260Ala) | |
3 | g.128486102A>G | CA354406645 | GATA2 | c.496T>C (p.Ser166Pro) c.778T>C (p.Ser260Pro) | |
3 | g.128486102A>T | CA354406644 | GATA2 | c.496T>A (p.Ser166Thr) c.778T>A (p.Ser260Thr) | |
3 | g.128486103G>A | CA83371971 | GATA2 | c.495C>T (p.His165=) c.777C>T (p.His259=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486103G>C | CA354406646 | GATA2 | c.495C>G (p.His165Gln) c.777C>G (p.His259Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486103G= | CA1400719393 | GATA2 | c.495C= (p.His165=) c.777C= (p.His259=) | |
3 | g.128486103G>T | CA354406647 | GATA2 | c.495C>A (p.His165Gln) c.777C>A (p.His259Gln) | ClinVar dbSNP |
3 | g.128486104T>A | CA354406648 | GATA2 | c.494A>T (p.His165Leu) c.776A>T (p.His259Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.128486104T>C | CA354406649 | GATA2 | c.494A>G (p.His165Arg) c.776A>G (p.His259Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486104T>G | CA354406650 | GATA2 | c.494A>C (p.His165Pro) c.776A>C (p.His259Pro) | |
3 | g.128486104T= | CA1400719394 | GATA2 | c.494A= (p.His165=) c.776A= (p.His259=) | |
3 | g.128486105G>A | CA354406651 | GATA2 | c.493C>T (p.His165Tyr) c.775C>T (p.His259Tyr) | ClinVar gnomAD v4 |
3 | g.128486105G>C | CA354406652 | GATA2 | c.493C>G (p.His165Asp) c.775C>G (p.His259Asp) | |
3 | g.128486105G>T | CA354406653 | GATA2 | c.493C>A (p.His165Asn) c.775C>A (p.His259Asn) | |
3 | g.128486106G>A | CA435763784 | GATA2 | c.492C>T (p.Ala164=) c.774C>T (p.Ala258=) | |
3 | g.128486106G>C | CA435763786 | GATA2 | c.492C>G (p.Ala164=) c.774C>G (p.Ala258=) | ClinVar dbSNP |
3 | g.128486106G= | CA1400719395 | GATA2 | c.492C= (p.Ala164=) c.774C= (p.Ala258=) | |
3 | g.128486106G>T | CA435763787 | GATA2 | c.492C>A (p.Ala164=) c.774C>A (p.Ala258=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486107G>A | CA83371977 | GATA2 | c.491C>T (p.Ala164Val) c.773C>T (p.Ala258Val) | ClinVar dbSNP gnomAD v4 |
3 | g.128486107G>C | CA83371979 | GATA2 | c.491C>G (p.Ala164Gly) c.773C>G (p.Ala258Gly) | dbSNP |
3 | g.128486107G= | CA1400719396 | GATA2 | c.491C= (p.Ala164=) c.773C= (p.Ala258=) | |
3 | g.128486107G>T | CA83371982 | GATA2 | c.491C>A (p.Ala164Asp) c.773C>A (p.Ala258Asp) | dbSNP gnomAD v4 |
3 | g.128486108C>A | CA354406655 | GATA2 | c.490G>T (p.Ala164Ser) c.772G>T (p.Ala258Ser) | |
3 | g.128486108C= | CA1400719397 | GATA2 | c.490G= (p.Ala164=) c.772G= (p.Ala258=) | |
3 | g.128486108C>G | CA354406654 | GATA2 | c.490G>C (p.Ala164Pro) c.772G>C (p.Ala258Pro) | dbSNP |
3 | g.128486108C>T | CA159904 | GATA2 | c.490G>A (p.Ala164Thr) c.772G>A (p.Ala258Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486109T>A | CA435763788 | GATA2 | c.489A>T (p.Ala163=) c.771A>T (p.Ala257=) | |
3 | g.128486109T>C | CA435763789 | GATA2 | c.489A>G (p.Ala163=) c.771A>G (p.Ala257=) | ClinVar gnomAD v4 |
3 | g.128486109T>G | CA435763790 | GATA2 | c.489A>C (p.Ala163=) c.771A>C (p.Ala257=) | |
3 | g.128486110G>A | CA354406656 | GATA2 | c.488C>T (p.Ala163Val) c.770C>T (p.Ala257Val) | |
3 | g.128486110G>C | CA354406657 | GATA2 | c.488C>G (p.Ala163Gly) c.770C>G (p.Ala257Gly) | |
3 | g.128486110G>T | CA354406658 | GATA2 | c.488C>A (p.Ala163Glu) c.770C>A (p.Ala257Glu) | |
3 | g.128486111C>A | CA354406659 | GATA2 | c.487G>T (p.Ala163Ser) c.769G>T (p.Ala257Ser) | |
3 | g.128486111C= | CA1400719398 | GATA2 | c.487G= (p.Ala163=) c.769G= (p.Ala257=) | |
3 | g.128486111C>G | CA354406660 | GATA2 | c.487G>C (p.Ala163Pro) c.769G>C (p.Ala257Pro) | |
3 | g.128486111C>T | CA83371986 | GATA2 | c.487G>A (p.Ala163Thr) c.769G>A (p.Ala257Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486112T>A | CA435763798 | GATA2 | c.486A>T (p.Thr162=) c.768A>T (p.Thr256=) | gnomAD v4 |
3 | g.128486112T>C | CA435763800 | GATA2 | c.486A>G (p.Thr162=) c.768A>G (p.Thr256=) | |
3 | g.128486112T>G | CA435763801 | GATA2 | c.486A>C (p.Thr162=) c.768A>C (p.Thr256=) | |
3 | g.128486113G>A | CA354406661 | GATA2 | c.485C>T (p.Thr162Ile) c.767C>T (p.Thr256Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.128486113G>C | CA354406662 | GATA2 | c.485C>G (p.Thr162Arg) c.767C>G (p.Thr256Arg) | |
3 | g.128486113G= | CA1400719399 | GATA2 | c.485C= (p.Thr162=) c.767C= (p.Thr256=) | |
3 | g.128486113G>T | CA354406663 | GATA2 | c.485C>A (p.Thr162Lys) c.767C>A (p.Thr256Lys) | |
3 | g.128486114T>A | CA354406664 | GATA2 | c.484A>T (p.Thr162Ser) c.766A>T (p.Thr256Ser) | |
3 | g.128486114T>C | CA354406665 | GATA2 | c.484A>G (p.Thr162Ala) c.766A>G (p.Thr256Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486114T>G | CA2600019 | GATA2 | c.484A>C (p.Thr162Pro) c.766A>C (p.Thr256Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486114T= | CA1400719400 | GATA2 | c.484A= (p.Thr162=) c.766A= (p.Thr256=) | |
3 | g.128486115A= | CA1400719401 | GATA2 | c.483T= (p.Pro161=) c.765T= (p.Pro255=) | |
3 | g.128486115A>C | CA435763806 | GATA2 | c.483T>G (p.Pro161=) c.765T>G (p.Pro255=) | |
3 | g.128486115A>G | CA435763809 | GATA2 | c.483T>C (p.Pro161=) c.765T>C (p.Pro255=) | dbSNP gnomAD v4 |
3 | g.128486115A>T | CA435763811 | GATA2 | c.483T>A (p.Pro161=) c.765T>A (p.Pro255=) | |
3 | g.128486115_128486116dup | CA2838031888 | GATA2 | c.482_483dup (p.Thr162LeufsTer?) c.764_765dup (p.Thr256LeufsTer?) | |
3 | g.128486116G>A | CA354406667 | GATA2 | c.482C>T (p.Pro161Leu) c.764C>T (p.Pro255Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486116G>C | CA354406668 | GATA2 | c.482C>G (p.Pro161Arg) c.764C>G (p.Pro255Arg) | |
3 | g.128486116G= | CA1400719402 | GATA2 | c.482C= (p.Pro161=) c.764C= (p.Pro255=) | |
3 | g.128486116G>T | CA354406666 | GATA2 | c.482C>A (p.Pro161His) c.764C>A (p.Pro255His) | gnomAD v4 |
3 | g.128486117G>A | CA354406669 | GATA2 | c.481C>T (p.Pro161Ser) c.763C>T (p.Pro255Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486117G>C | CA159894 | GATA2 | c.481C>G (p.Pro161Ala) c.763C>G (p.Pro255Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486117G= | CA1400719403 | GATA2 | c.481C= (p.Pro161=) c.763C= (p.Pro255=) | |
3 | g.128486117G>T | CA2600020 | GATA2 | c.481C>A (p.Pro161Thr) c.763C>A (p.Pro255Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486118G>A | CA2600021 | GATA2 | c.480C>T (p.Thr160=) c.762C>T (p.Thr254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486118G>C | CA435763814 | GATA2 | c.480C>G (p.Thr160=) c.762C>G (p.Thr254=) | |
3 | g.128486118G= | CA1400719404 | GATA2 | c.480C= (p.Thr160=) c.762C= (p.Thr254=) | |
3 | g.128486118G>T | CA435763815 | GATA2 | c.480C>A (p.Thr160=) c.762C>A (p.Thr254=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486119G>A | CA354406670 | GATA2 | c.479C>T (p.Thr160Ile) c.761C>T (p.Thr254Ile) | |
3 | g.128486119G>C | CA354406671 | GATA2 | c.479C>G (p.Thr160Ser) c.761C>G (p.Thr254Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486119G= | CA1400719405 | GATA2 | c.479C= (p.Thr160=) c.761C= (p.Thr254=) | |
3 | g.128486119G>T | CA2600022 | GATA2 | c.479C>A (p.Thr160Asn) c.761C>A (p.Thr254Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486120_128486123dup | CA2499216466 | GATA2 | c.476_479dup (p.Pro161HisfsTer25) c.758_761dup (p.Pro255HisfsTer25) | ClinVar dbSNP |
3 | g.128486120T>A | CA354406672 | GATA2 | c.478A>T (p.Thr160Ser) c.760A>T (p.Thr254Ser) | ClinVar |
3 | g.128486120T>C | CA354406674 | GATA2 | c.478A>G (p.Thr160Ala) c.760A>G (p.Thr254Ala) | |
3 | g.128486120T>G | CA354406673 | GATA2 | c.478A>C (p.Thr160Pro) c.760A>C (p.Thr254Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486120T= | CA1400719406 | GATA2 | c.478A= (p.Thr160=) c.760A= (p.Thr254=) | |
3 | g.128486121G>A | CA2600023 | GATA2 | c.477C>T (p.Leu159=) c.759C>T (p.Leu253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486121G>C | CA435763822 | GATA2 | c.477C>G (p.Leu159=) c.759C>G (p.Leu253=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486121G= | CA1400719407 | GATA2 | c.477C= (p.Leu159=) c.759C= (p.Leu253=) | |
3 | g.128486121G>T | CA435763823 | GATA2 | c.477C>A (p.Leu159=) c.759C>A (p.Leu253=) | |
3 | g.128486122A>C | CA354406675 | GATA2 | c.476T>G (p.Leu159Arg) c.758T>G (p.Leu253Arg) | |
3 | g.128486122A>G | CA354406676 | GATA2 | c.476T>C (p.Leu159Pro) c.758T>C (p.Leu253Pro) | |
3 | g.128486122A>T | CA354406677 | GATA2 | c.476T>A (p.Leu159His) c.758T>A (p.Leu253His) | |
3 | g.128486123G>A | CA354406678 | GATA2 | c.475C>T (p.Leu159Phe) c.757C>T (p.Leu253Phe) | gnomAD v4 |
3 | g.128486123G>C | CA354406680 | GATA2 | c.475C>G (p.Leu159Val) c.757C>G (p.Leu253Val) | |
3 | g.128486123G>T | CA354406679 | GATA2 | c.475C>A (p.Leu159Ile) c.757C>A (p.Leu253Ile) | |
3 | g.128486124G>A | CA435763827 | GATA2 | c.474C>T (p.Ser158=) c.756C>T (p.Ser252=) | ClinVar dbSNP |
3 | g.128486124G>C | CA435763828 | GATA2 | c.474C>G (p.Ser158=) c.756C>G (p.Ser252=) | |
3 | g.128486124G>T | CA435763829 | GATA2 | c.474C>A (p.Ser158=) c.756C>A (p.Ser252=) | |
3 | g.128486125G>A | CA354406681 | GATA2 | c.473C>T (p.Ser158Phe) c.755C>T (p.Ser252Phe) | |
3 | g.128486125G>C | CA354406682 | GATA2 | c.473C>G (p.Ser158Cys) c.755C>G (p.Ser252Cys) | |
3 | g.128486125G>T | CA354406683 | GATA2 | c.473C>A (p.Ser158Tyr) c.755C>A (p.Ser252Tyr) | |
3 | g.128486126A= | CA1400719408 | GATA2 | c.472T= (p.Ser158=) c.754T= (p.Ser252=) | |
3 | g.128486126A>C | CA354406684 | GATA2 | c.472T>G (p.Ser158Ala) c.754T>G (p.Ser252Ala) | |
3 | g.128486126A>G | CA354406685 | GATA2 | c.472T>C (p.Ser158Pro) c.754T>C (p.Ser252Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486126A>T | CA354406686 | GATA2 | c.472T>A (p.Ser158Thr) c.754T>A (p.Ser252Thr) | |
3 | g.128486127G>A | CA435763834 | GATA2 | c.471C>T (p.Ala157=) c.753C>T (p.Ala251=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486127G>C | CA435763835 | GATA2 | c.471C>G (p.Ala157=) c.753C>G (p.Ala251=) | |
3 | g.128486127G>T | CA435763836 | GATA2 | c.471C>A (p.Ala157=) c.753C>A (p.Ala251=) | |
3 | g.128486128G>A | CA354406687 | GATA2 | c.470C>T (p.Ala157Val) c.752C>T (p.Ala251Val) | gnomAD v4 |
3 | g.128486128G>C | CA354406688 | GATA2 | c.470C>G (p.Ala157Gly) c.752C>G (p.Ala251Gly) | ClinVar |
3 | g.128486128G= | CA1400719409 | GATA2 | c.470C= (p.Ala157=) c.752C= (p.Ala251=) | |
3 | g.128486128G>T | CA83372012 | GATA2 | c.470C>A (p.Ala157Asp) c.752C>A (p.Ala251Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486129C>A | CA354406689 | GATA2 | c.469G>T (p.Ala157Ser) c.751G>T (p.Ala251Ser) | ClinVar dbSNP |
3 | g.128486129C= | CA1400719410 | GATA2 | c.469G= (p.Ala157=) c.751G= (p.Ala251=) | |
3 | g.128486129C>G | CA354406690 | GATA2 | c.469G>C (p.Ala157Pro) c.751G>C (p.Ala251Pro) | |
3 | g.128486129C>T | CA354406691 | GATA2 | c.469G>A (p.Ala157Thr) c.751G>A (p.Ala251Thr) | gnomAD v4 |
3 | g.128486130C>A | CA435763843 | GATA2 | c.468G>T (p.Val156=) c.750G>T (p.Val250=) | |
3 | g.128486130C= | CA1400719411 | GATA2 | c.468G= (p.Val156=) c.750G= (p.Val250=) | |
3 | g.128486130C>G | CA435763844 | GATA2 | c.468G>C (p.Val156=) c.750G>C (p.Val250=) | |
3 | g.128486130C>T | CA435763845 | GATA2 | c.468G>A (p.Val156=) c.750G>A (p.Val250=) | ClinVar dbSNP |
3 | g.128486131_128486139del | CA2667541072 | GATA2 | c.460_468del (p.Ser154_Val156del) c.742_750del (p.Ser248_Val250del) | gnomAD v4 |
3 | g.128486131A>C | CA354406692 | GATA2 | c.467T>G (p.Val156Gly) c.749T>G (p.Val250Gly) | |
3 | g.128486131A>G | CA354406694 | GATA2 | c.467T>C (p.Val156Ala) c.749T>C (p.Val250Ala) | |
3 | g.128486131A>T | CA354406693 | GATA2 | c.467T>A (p.Val156Glu) c.749T>A (p.Val250Glu) | ClinVar dbSNP |
3 | g.128486132C>A | CA354406695 | GATA2 | c.466G>T (p.Val156Leu) c.748G>T (p.Val250Leu) | COSMIC |
3 | g.128486132C= | CA1400719412 | GATA2 | c.466G= (p.Val156=) c.748G= (p.Val250=) | |
3 | g.128486132C>G | CA354406697 | GATA2 | c.466G>C (p.Val156Leu) c.748G>C (p.Val250Leu) | ClinVar dbSNP |
3 | g.128486132C>T | CA354406696 | GATA2 | c.466G>A (p.Val156Met) c.748G>A (p.Val250Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486133T>A | CA435763852 | GATA2 | c.465A>T (p.Ser155=) c.747A>T (p.Ser249=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486133T>C | CA83372017 | GATA2 | c.465A>G (p.Ser155=) c.747A>G (p.Ser249=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486133T>G | CA435763854 | GATA2 | c.465A>C (p.Ser155=) c.747A>C (p.Ser249=) | |
3 | g.128486133T= | CA1400719413 | GATA2 | c.465A= (p.Ser155=) c.747A= (p.Ser249=) | |
3 | g.128486134G>A | CA354406698 | GATA2 | c.464C>T (p.Ser155Leu) c.746C>T (p.Ser249Leu) | |
3 | g.128486134G>C | CA354406700 | GATA2 | c.464C>G (p.Ser155Ter) c.746C>G (p.Ser249Ter) | |
3 | g.128486134G>T | CA354406699 | GATA2 | c.464C>A (p.Ser155Ter) c.746C>A (p.Ser249Ter) | |
3 | g.128486134_128486142del | CA2758339422 | GATA2 | c.456_464del (p.Ser152_Ser155delinsArg) c.738_746del (p.Ser246_Ser249delinsArg) | |
3 | g.128486135A>C | CA354406701 | GATA2 | c.463T>G (p.Ser155Ala) c.745T>G (p.Ser249Ala) | |
3 | g.128486135A>G | CA354406702 | GATA2 | c.463T>C (p.Ser155Pro) c.745T>C (p.Ser249Pro) | ClinVar |
3 | g.128486135A>T | CA354406703 | GATA2 | c.463T>A (p.Ser155Thr) c.745T>A (p.Ser249Thr) | |
3 | g.128486136G>A | CA435763860 | GATA2 | c.462C>T (p.Ser154=) c.744C>T (p.Ser248=) | ClinVar dbSNP |
3 | g.128486136G>C | CA354406704 | GATA2 | c.462C>G (p.Ser154Arg) c.744C>G (p.Ser248Arg) | |
3 | g.128486136G>T | CA354406705 | GATA2 | c.462C>A (p.Ser154Arg) c.744C>A (p.Ser248Arg) | |
3 | g.128486137C>A | CA354406706 | GATA2 | c.461G>T (p.Ser154Ile) c.743G>T (p.Ser248Ile) | |
3 | g.128486137C>G | CA354406707 | GATA2 | c.461G>C (p.Ser154Thr) c.743G>C (p.Ser248Thr) | gnomAD v4 |
3 | g.128486137C>T | CA354406708 | GATA2 | c.461G>A (p.Ser154Asn) c.743G>A (p.Ser248Asn) | |
3 | g.128486138T>A | CA354406709 | GATA2 | c.460A>T (p.Ser154Cys) c.742A>T (p.Ser248Cys) | |
3 | g.128486138T>C | CA354406710 | GATA2 | c.460A>G (p.Ser154Gly) c.742A>G (p.Ser248Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486138T>G | CA354406711 | GATA2 | c.460A>C (p.Ser154Arg) c.742A>C (p.Ser248Arg) | |
3 | g.128486138T= | CA1400719414 | GATA2 | c.460A= (p.Ser154=) c.742A= (p.Ser248=) | |
3 | g.128486139C>A | CA435763867 | GATA2 | c.459G>T (p.Gly153=) c.741G>T (p.Gly247=) | |
3 | g.128486139C>G | CA435763869 | GATA2 | c.459G>C (p.Gly153=) c.741G>C (p.Gly247=) | |
3 | g.128486139C>T | CA435763870 | GATA2 | c.459G>A (p.Gly153=) c.741G>A (p.Gly247=) | ClinVar dbSNP |
3 | g.128486140C>A | CA354406714 | GATA2 | c.458G>T (p.Gly153Val) c.740G>T (p.Gly247Val) | |
3 | g.128486140C>G | CA354406713 | GATA2 | c.458G>C (p.Gly153Ala) c.740G>C (p.Gly247Ala) | |
3 | g.128486140C>T | CA354406712 | GATA2 | c.458G>A (p.Gly153Glu) c.740G>A (p.Gly247Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128486141C>A | CA354406715 | GATA2 | c.457G>T (p.Gly153Trp) c.739G>T (p.Gly247Trp) | |
3 | g.128486141C= | CA1400719415 | GATA2 | c.457G= (p.Gly153=) c.739G= (p.Gly247=) | |
3 | g.128486141C>G | CA354406716 | GATA2 | c.457G>C (p.Gly153Arg) c.739G>C (p.Gly247Arg) | |
3 | g.128486141C>T | CA2600024 | GATA2 | c.457G>A (p.Gly153Arg) c.739G>A (p.Gly247Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486142G>A | CA435763872 | GATA2 | c.456C>T (p.Ser152=) c.738C>T (p.Ser246=) | gnomAD v4 |
3 | g.128486142G>C | CA354406717 | GATA2 | c.456C>G (p.Ser152Arg) c.738C>G (p.Ser246Arg) | ClinVar dbSNP |
3 | g.128486142G= | CA1400719416 | GATA2 | c.456C= (p.Ser152=) c.738C= (p.Ser246=) | |
3 | g.128486142G>T | CA2600025 | GATA2 | c.456C>A (p.Ser152Arg) c.738C>A (p.Ser246Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486143C>A | CA354406718 | GATA2 | c.455G>T (p.Ser152Ile) c.737G>T (p.Ser246Ile) | |
3 | g.128486143C= | CA1400719417 | GATA2 | c.455G= (p.Ser152=) c.737G= (p.Ser246=) | |
3 | g.128486143C>G | CA354406719 | GATA2 | c.455G>C (p.Ser152Thr) c.737G>C (p.Ser246Thr) | |
3 | g.128486143C>T | CA354406720 | GATA2 | c.455G>A (p.Ser152Asn) c.737G>A (p.Ser246Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.128486144T>A | CA354406721 | GATA2 | c.454A>T (p.Ser152Cys) c.736A>T (p.Ser246Cys) | |
3 | g.128486144T>C | CA354406722 | GATA2 | c.454A>G (p.Ser152Gly) c.736A>G (p.Ser246Gly) | |
3 | g.128486144T>G | CA354406723 | GATA2 | c.454A>C (p.Ser152Arg) c.736A>C (p.Ser246Arg) | |
3 | g.128486145G>A | CA435763881 | GATA2 | c.453C>T (p.Gly151=) c.735C>T (p.Gly245=) | gnomAD v4 |
3 | g.128486145G>C | CA435763882 | GATA2 | c.453C>G (p.Gly151=) c.735C>G (p.Gly245=) | |
3 | g.128486145G>T | CA435763883 | GATA2 | c.453C>A (p.Gly151=) c.735C>A (p.Gly245=) | |
3 | g.128486146C>A | CA354406725 | GATA2 | c.452G>T (p.Gly151Val) c.734G>T (p.Gly245Val) | gnomAD v4 |
3 | g.128486146C= | CA1400719418 | GATA2 | c.452G= (p.Gly151=) c.734G= (p.Gly245=) | |
3 | g.128486146C>G | CA354406724 | GATA2 | c.452G>C (p.Gly151Ala) c.734G>C (p.Gly245Ala) | |
3 | g.128486146C>T | CA2600026 | GATA2 | c.452G>A (p.Gly151Asp) c.734G>A (p.Gly245Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486147C>A | CA354406726 | GATA2 | c.451G>T (p.Gly151Cys) c.733G>T (p.Gly245Cys) | |
3 | g.128486147C= | CA1400719420 | GATA2 | c.451G= (p.Gly151=) c.733G= (p.Gly245=) | |
3 | g.128486147C>G | CA354406727 | GATA2 | c.451G>C (p.Gly151Arg) c.733G>C (p.Gly245Arg) | |
3 | g.128486147C>T | CA354406728 | GATA2 | c.451G>A (p.Gly151Ser) c.733G>A (p.Gly245Ser) | |
3 | g.128486147_128486148delinsCT | CA1400719419 | GATA2 | c.450_451delinsAG (p.Gly150=) c.732_733delinsAG (p.Gly244=) | |
3 | g.128486148del | CA917003465 | GATA2 | c.450del (p.Gly151AlafsTer?) c.732del (p.Gly245AlafsTer?) c.450del (p.Gly150=) | dbSNP |
3 | g.128486148T>A | CA435763885 | GATA2 | c.450A>T (p.Gly150=) c.732A>T (p.Gly244=) | |
3 | g.128486148T>C | CA2600027 | GATA2 | c.450A>G (p.Gly150=) c.732A>G (p.Gly244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486148T>G | CA435763886 | GATA2 | c.450A>C (p.Gly150=) c.732A>C (p.Gly244=) | |
3 | g.128486148T= | CA1400719421 | GATA2 | c.450A= (p.Gly150=) c.732A= (p.Gly244=) | |
3 | g.128486148dup | CA917003467 | GATA2 | c.450dup (p.Gly151ArgfsTer?) c.732dup (p.Gly245ArgfsTer?) | dbSNP |
3 | g.128486148_128486149insAC | CA2838031897 | GATA2 | c.449_450insGT (p.Gly151Ter) c.731_732insGT (p.Gly245Ter) c.449_450insGT (p.Gly150=) | |
3 | g.128486149C>A | CA354406729 | GATA2 | c.449G>T (p.Gly150Val) c.731G>T (p.Gly244Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486149C= | CA1400719422 | GATA2 | c.449G= (p.Gly150=) c.731G= (p.Gly244=) | |
3 | g.128486149C>G | CA354406730 | GATA2 | c.449G>C (p.Gly150Ala) c.731G>C (p.Gly244Ala) | |
3 | g.128486149C>T | CA354406731 | GATA2 | c.449G>A (p.Gly150Glu) c.731G>A (p.Gly244Glu) | ClinVar |
3 | g.128486152_128486153dup | CA2838139410 | GATA2 | c.448_449dup (p.Gly151GlufsTer?) c.730_731dup (p.Gly245GlufsTer?) c.448_449dup (p.Gly150=) | |
3 | g.128486153del | CA645523650 | GATA2 | c.449del (p.Gly150GlufsTer?) c.731del (p.Gly244GlufsTer?) c.449del (p.Gly150=) | gnomAD v4 COSMIC |
3 | g.128486150C>A | CA354406732 | GATA2 | c.448G>T (p.Gly150Ter) c.730G>T (p.Gly244Ter) | |
3 | g.128486150C= | CA1400719423 | GATA2 | c.448G= (p.Gly150=) c.730G= (p.Gly244=) | |
3 | g.128486150C>G | CA354406733 | GATA2 | c.448G>C (p.Gly150Arg) c.730G>C (p.Gly244Arg) | |
3 | g.128486150C>T | CA354406734 | GATA2 | c.448G>A (p.Gly150Arg) c.730G>A (p.Gly244Arg) | ClinVar dbSNP |
3 | g.128486151C>A | CA435763890 | GATA2 | c.447G>T (p.Gly149=) c.729G>T (p.Gly243=) | |
3 | g.128486151C>G | CA435763891 | GATA2 | c.447G>C (p.Gly149=) c.729G>C (p.Gly243=) | ClinVar dbSNP |
3 | g.128486151C>T | CA435763892 | GATA2 | c.447G>A (p.Gly149=) c.729G>A (p.Gly243=) | gnomAD v4 |
3 | g.128486152C>A | CA354406735 | GATA2 | c.446G>T (p.Gly149Val) c.728G>T (p.Gly243Val) | gnomAD v4 |
3 | g.128486152C= | CA1400719424 | GATA2 | c.446G= (p.Gly149=) c.728G= (p.Gly243=) | |
3 | g.128486152C>G | CA354406736 | GATA2 | c.446G>C (p.Gly149Ala) c.728G>C (p.Gly243Ala) | ClinVar dbSNP |
3 | g.128486152C>T | CA354406737 | GATA2 | c.446G>A (p.Gly149Glu) c.728G>A (p.Gly243Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486153C>A | CA354406739 | GATA2 | c.445G>T (p.Gly149Trp) c.727G>T (p.Gly243Trp) | gnomAD v4 |
3 | g.128486153C= | CA1400719425 | GATA2 | c.445G= (p.Gly149=) c.727G= (p.Gly243=) | |
3 | g.128486153C>G | CA354406738 | GATA2 | c.445G>C (p.Gly149Arg) c.727G>C (p.Gly243Arg) | gnomAD v4 |
3 | g.128486153C>T | CA2600028 | GATA2 | c.445G>A (p.Gly149Arg) c.727G>A (p.Gly243Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486154G>A | CA435763896 | GATA2 | c.444C>T (p.Ser148=) c.726C>T (p.Ser242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486154G>C | CA354406740 | GATA2 | c.444C>G (p.Ser148Arg) c.726C>G (p.Ser242Arg) | ClinVar |
3 | g.128486154G= | CA1400719426 | GATA2 | c.444C= (p.Ser148=) c.726C= (p.Ser242=) | |
3 | g.128486154G>T | CA354406741 | GATA2 | c.444C>A (p.Ser148Arg) c.726C>A (p.Ser242Arg) | gnomAD v4 |
3 | g.128486155C>A | CA354406742 | GATA2 | c.443G>T (p.Ser148Ile) c.725G>T (p.Ser242Ile) | |
3 | g.128486155C>G | CA354406743 | GATA2 | c.443G>C (p.Ser148Thr) c.725G>C (p.Ser242Thr) | |
3 | g.128486155C>T | CA354406744 | GATA2 | c.443G>A (p.Ser148Asn) c.725G>A (p.Ser242Asn) | ClinVar gnomAD v4 |
3 | g.128486156T>A | CA354406745 | GATA2 | c.442A>T (p.Ser148Cys) c.724A>T (p.Ser242Cys) | |
3 | g.128486156T>C | CA354406746 | GATA2 | c.442A>G (p.Ser148Gly) c.724A>G (p.Ser242Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486156T>G | CA354406747 | GATA2 | c.442A>C (p.Ser148Arg) c.724A>C (p.Ser242Arg) | |
3 | g.128486156T= | CA1400719427 | GATA2 | c.442A= (p.Ser148=) c.724A= (p.Ser242=) | |
3 | g.128486157C>A | CA435763900 | GATA2 | c.441G>T (p.Gly147=) c.723G>T (p.Gly241=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486157C= | CA1400719428 | GATA2 | c.441G= (p.Gly147=) c.723G= (p.Gly241=) | |
3 | g.128486157C>G | CA435763901 | GATA2 | c.441G>C (p.Gly147=) c.723G>C (p.Gly241=) | dbSNP gnomAD v4 |
3 | g.128486157C>T | CA435763902 | GATA2 | c.441G>A (p.Gly147=) c.723G>A (p.Gly241=) | |
3 | g.128486158C>A | CA354406748 | GATA2 | c.440G>T (p.Gly147Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
3 | g.128486158C>G | CA354406749 | GATA2 | c.440G>C (p.Gly147Ala) c.722G>C (p.Gly241Ala) | |
3 | g.128486158C>T | CA354406750 | GATA2 | c.440G>A (p.Gly147Glu) c.722G>A (p.Gly241Glu) | gnomAD v4 |
3 | g.128486159C>A | CA354406753 | GATA2 | c.439G>T (p.Gly147Trp) c.721G>T (p.Gly241Trp) | |
3 | g.128486159C>G | CA354406752 | GATA2 | c.439G>C (p.Gly147Arg) c.721G>C (p.Gly241Arg) | |
3 | g.128486159C>T | CA354406751 | GATA2 | c.439G>A (p.Gly147Arg) c.721G>A (p.Gly241Arg) | ClinVar dbSNP |
3 | g.128486160A>C | CA435763905 | GATA2 | c.438T>G (p.Gly146=) c.720T>G (p.Gly240=) | gnomAD v4 |
3 | g.128486160A>G | CA435763906 | GATA2 | c.438T>C (p.Gly146=) c.720T>C (p.Gly240=) | |
3 | g.128486160A>T | CA435763907 | GATA2 | c.438T>A (p.Gly146=) c.720T>A (p.Gly240=) | |
3 | g.128486161C>A | CA2600029 | GATA2 | c.437G>T (p.Gly146Val) c.719G>T (p.Gly240Val) | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.128486161C= | CA1400719429 | GATA2 | c.437G= (p.Gly146=) c.719G= (p.Gly240=) | |
3 | g.128486161C>G | CA354406756 | GATA2 | c.437G>C (p.Gly146Ala) c.719G>C (p.Gly240Ala) | gnomAD v4 |
3 | g.128486161C>T | CA354406758 | GATA2 | c.437G>A (p.Gly146Asp) c.719G>A (p.Gly240Asp) | |
3 | g.128486165dup | CA2499216467 | GATA2 | c.437dup (p.Gly147TrpfsTer?) c.719dup (p.Gly241TrpfsTer?) | ClinVar dbSNP |
3 | g.128486165del | CA1139532786 | GATA2 | c.437del (p.Gly146ValfsTer?) c.719del (p.Gly240ValfsTer?) | ClinVar dbSNP |
3 | g.128486162C>A | CA354406759 | GATA2 | c.436G>T (p.Gly146Cys) c.718G>T (p.Gly240Cys) | |
3 | g.128486162C= | CA1400719430 | GATA2 | c.436G= (p.Gly146=) c.718G= (p.Gly240=) | |
3 | g.128486162C>G | CA354406761 | GATA2 | c.436G>C (p.Gly146Arg) c.718G>C (p.Gly240Arg) | |
3 | g.128486162C>T | CA2600030 | GATA2 | c.436G>A (p.Gly146Ser) c.718G>A (p.Gly240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486163C>A | CA435763911 | GATA2 | c.435G>T (p.Gly145=) c.717G>T (p.Gly239=) | |
3 | g.128486163C>G | CA435763912 | GATA2 | c.435G>C (p.Gly145=) c.717G>C (p.Gly239=) | |
3 | g.128486163C>T | CA435763913 | GATA2 | c.435G>A (p.Gly145=) c.717G>A (p.Gly239=) | |
3 | g.128486164C>A | CA354406768 | GATA2 | c.434G>T (p.Gly145Val) c.716G>T (p.Gly239Val) | dbSNP |
3 | g.128486164C>G | CA354406766 | GATA2 | c.434G>C (p.Gly145Ala) c.716G>C (p.Gly239Ala) | |
3 | g.128486164C>T | CA354406764 | GATA2 | c.434G>A (p.Gly145Glu) c.716G>A (p.Gly239Glu) | |
3 | g.128486165C>A | CA354406769 | GATA2 | c.433G>T (p.Gly145Trp) c.715G>T (p.Gly239Trp) | gnomAD v4 |
3 | g.128486165C>G | CA354406771 | GATA2 | c.433G>C (p.Gly145Arg) c.715G>C (p.Gly239Arg) | ClinVar |
3 | g.128486165C>T | CA354406773 | GATA2 | c.433G>A (p.Gly145Arg) c.715G>A (p.Gly239Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486166A= | CA1400719431 | GATA2 | c.432T= (p.Ala144=) c.714T= (p.Ala238=) | |
3 | g.128486166A>C | CA435763914 | GATA2 | c.432T>G (p.Ala144=) c.714T>G (p.Ala238=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486166A>G | CA435763915 | GATA2 | c.432T>C (p.Ala144=) c.714T>C (p.Ala238=) | |
3 | g.128486166A>T | CA435763916 | GATA2 | c.432T>A (p.Ala144=) c.714T>A (p.Ala238=) | |
3 | g.128486166_128486167del | CA2838139403 | GATA2 | c.431_432del (p.Ala144GlyfsTer?) c.713_714del (p.Ala238GlyfsTer?) | |
3 | g.128486166_128486167delinsCC | CA2838031901 | GATA2 | c.431_432delinsGG (p.Ala144Gly) c.713_714delinsGG (p.Ala238Gly) | |
3 | g.128486167G>A | CA354406775 | GATA2 | c.431C>T (p.Ala144Val) c.713C>T (p.Ala238Val) | gnomAD v4 |
3 | g.128486167G>C | CA354406777 | GATA2 | c.431C>G (p.Ala144Gly) c.713C>G (p.Ala238Gly) | ClinVar dbSNP |
3 | g.128486167G= | CA1400719432 | GATA2 | c.431C= (p.Ala144=) c.713C= (p.Ala238=) | |
3 | g.128486167G>T | CA2600031 | GATA2 | c.431C>A (p.Ala144Asp) c.713C>A (p.Ala238Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486168C>A | CA2600032 | GATA2 | c.430G>T (p.Ala144Ser) c.712G>T (p.Ala238Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486168C= | CA1400719433 | GATA2 | c.430G= (p.Ala144=) c.712G= (p.Ala238=) | |
3 | g.128486168C>G | CA354406781 | GATA2 | c.430G>C (p.Ala144Pro) c.712G>C (p.Ala238Pro) | |
3 | g.128486168C>T | CA354406780 | GATA2 | c.430G>A (p.Ala144Thr) c.712G>A (p.Ala238Thr) | ClinVar |