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.128486289_128486296del | CA1611067989 | GATA2 | c.304_311del (p.Lys102ProfsTer?) c.586_593del (p.Lys196ProfsTer?) | |
3 | g.128486292_128486296del | CA2740090997 | GATA2 | c.305_309del (p.Lys102SerfsTer?) c.587_591del (p.Lys196SerfsTer?) | ClinVar |
3 | g.128486291_128486324del | CA2838031892 | GATA2 | c.274_307del (p.Ser92GlnfsTer16) c.556_589del (p.Ser186GlnfsTer16) | |
3 | g.128486295del | CA1139532779 | GATA2 | c.303del (p.Ala103GlnfsTer16) c.585del (p.Ala197GlnfsTer16) | ClinVar dbSNP |
3 | g.128486295G>A | CA435510340 | GATA2 | c.303C>T (p.Gly101=) c.585C>T (p.Gly195=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486295G>C | CA435510341 | GATA2 | c.303C>G (p.Gly101=) c.585C>G (p.Gly195=) | gnomAD v4 |
3 | g.128486295G= | CA1400719500 | GATA2 | c.303C= (p.Gly101=) c.585C= (p.Gly195=) | |
3 | g.128486295G>T | CA435510342 | GATA2 | c.303C>A (p.Gly101=) c.585C>A (p.Gly195=) | gnomAD v4 |
3 | g.128486296C>A | CA354407460 | GATA2 | c.302G>T (p.Gly101Val) c.584G>T (p.Gly195Val) | gnomAD v4 |
3 | g.128486296C= | CA1400719501 | GATA2 | c.302G= (p.Gly101=) c.584G= (p.Gly195=) | |
3 | g.128486296C>G | CA354407463 | GATA2 | c.302G>C (p.Gly101Ala) c.584G>C (p.Gly195Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486296C>T | CA354407475 | GATA2 | c.302G>A (p.Gly101Asp) c.584G>A (p.Gly195Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128486300dup | CA2832534310 | GATA2 | c.302dup (p.Lys102GlnfsTer?) c.584dup (p.Lys196GlnfsTer?) | |
3 | g.128486300del | CA1139532778 | GATA2 | c.302del (p.Gly101AlafsTer18) c.584del (p.Gly195AlafsTer18) | ClinVar dbSNP |
3 | g.128486297C>A | CA354407479 | GATA2 | c.301G>T (p.Gly101Cys) c.583G>T (p.Gly195Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.128486297C= | CA1400719502 | GATA2 | c.301G= (p.Gly101=) c.583G= (p.Gly195=) | |
3 | g.128486297C>G | CA354407483 | GATA2 | c.301G>C (p.Gly101Arg) c.583G>C (p.Gly195Arg) | |
3 | g.128486297C>T | CA354407482 | GATA2 | c.301G>A (p.Gly101Ser) c.583G>A (p.Gly195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486298C>A | CA435510344 | GATA2 | c.300G>T (p.Gly100=) c.582G>T (p.Gly194=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486298C= | CA1400719504 | GATA2 | c.300G= (p.Gly100=) c.582G= (p.Gly194=) | |
3 | g.128486298C>G | CA435510346 | GATA2 | c.300G>C (p.Gly100=) c.582G>C (p.Gly194=) | |
3 | g.128486298C>T | CA435510347 | GATA2 | c.300G>A (p.Gly100=) c.582G>A (p.Gly194=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486298_128486299delinsAA | CA16611182 | GATA2 | c.299_300delinsTT (p.Gly100Val) c.581_582delinsTT (p.Gly194Val) | ClinVar dbSNP |
3 | g.128486298_128486299delinsCC | CA1400719503 | GATA2 | c.299_300delinsGG (p.Gly100=) c.581_582delinsGG (p.Gly194=) | |
3 | g.128486301_128486302insAGGCCCG | CA645523652 | GATA2 | c.300_301insCCTCGGG (p.Gly101ProfsTer?) c.582_583insCCTCGGG (p.Gly195ProfsTer?) | COSMIC |
3 | g.128486299C>A | CA354407486 | GATA2 | c.299G>T (p.Gly100Val) c.581G>T (p.Gly194Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486299C= | CA1400719505 | GATA2 | c.299G= (p.Gly100=) c.581G= (p.Gly194=) | |
3 | g.128486299C>G | CA354407489 | GATA2 | c.299G>C (p.Gly100Ala) c.581G>C (p.Gly194Ala) | gnomAD v4 |
3 | g.128486299C>T | CA354407491 | GATA2 | c.299G>A (p.Gly100Glu) c.581G>A (p.Gly194Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.128486300C>A | CA354407505 | GATA2 | c.298G>T (p.Gly100Trp) c.580G>T (p.Gly194Trp) | |
3 | g.128486300C= | CA1400719506 | GATA2 | c.298G= (p.Gly100=) c.580G= (p.Gly194=) | |
3 | g.128486300C>G | CA354407506 | GATA2 | c.298G>C (p.Gly100Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486300C>T | CA354407508 | GATA2 | c.298G>A (p.Gly100Arg) c.580G>A (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486301G>A | CA435510348 | GATA2 | c.297C>T (p.Asp99=) c.579C>T (p.Asp193=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486301G>C | CA354407510 | GATA2 | c.297C>G (p.Asp99Glu) c.579C>G (p.Asp193Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486301G= | CA1400719507 | GATA2 | c.297C= (p.Asp99=) c.579C= (p.Asp193=) | |
3 | g.128486301G>T | CA354407512 | GATA2 | c.297C>A (p.Asp99Glu) c.579C>A (p.Asp193Glu) | ClinVar gnomAD v4 |
3 | g.128486302T>A | CA354407514 | GATA2 | c.296A>T (p.Asp99Val) c.578A>T (p.Asp193Val) | gnomAD v4 |
3 | g.128486302T>C | CA2600044 | GATA2 | c.296A>G (p.Asp99Gly) c.578A>G (p.Asp193Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486302T>G | CA354407517 | GATA2 | c.296A>C (p.Asp99Ala) c.578A>C (p.Asp193Ala) | |
3 | g.128486302T= | CA1400719508 | GATA2 | c.296A= (p.Asp99=) c.578A= (p.Asp193=) | |
3 | g.128486303C>A | CA2600045 | GATA2 | c.295G>T (p.Asp99Tyr) c.577G>T (p.Asp193Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486303C= | CA1400719509 | GATA2 | c.295G= (p.Asp99=) c.577G= (p.Asp193=) | |
3 | g.128486303C>G | CA354407522 | GATA2 | c.295G>C (p.Asp99His) c.577G>C (p.Asp193His) | |
3 | g.128486303C>T | CA354407518 | GATA2 | c.295G>A (p.Asp99Asn) c.577G>A (p.Asp193Asn) | |
3 | g.128486304C>A | CA435510349 | GATA2 | c.294G>T (p.Leu98=) c.576G>T (p.Leu192=) | gnomAD v4 |
3 | g.128486304C>G | CA435510350 | GATA2 | c.294G>C (p.Leu98=) c.576G>C (p.Leu192=) | |
3 | g.128486304C>T | CA435510351 | GATA2 | c.294G>A (p.Leu98=) c.576G>A (p.Leu192=) | gnomAD v4 |
3 | g.128486305A>C | CA354407525 | GATA2 | c.293T>G (p.Leu98Arg) c.575T>G (p.Leu192Arg) | |
3 | g.128486305A>G | CA354407529 | GATA2 | c.293T>C (p.Leu98Pro) c.575T>C (p.Leu192Pro) | |
3 | g.128486305A>T | CA354407526 | GATA2 | c.293T>A (p.Leu98Gln) c.575T>A (p.Leu192Gln) | |
3 | g.128486306G>A | CA435510352 | GATA2 | c.292C>T (p.Leu98=) c.574C>T (p.Leu192=) | gnomAD v4 |
3 | g.128486306G>C | CA354407531 | GATA2 | c.292C>G (p.Leu98Val) c.574C>G (p.Leu192Val) | |
3 | g.128486306G>T | CA354407534 | GATA2 | c.292C>A (p.Leu98Met) c.574C>A (p.Leu192Met) | gnomAD v4 |
3 | g.128486307C>A | CA354407535 | GATA2 | c.291G>T (p.Trp97Cys) c.573G>T (p.Trp191Cys) | gnomAD v4 |
3 | g.128486307C>G | CA354407539 | GATA2 | c.291G>C (p.Trp97Cys) c.573G>C (p.Trp191Cys) | |
3 | g.128486307C>T | CA354407537 | GATA2 | c.291G>A (p.Trp97Ter) c.573G>A (p.Trp191Ter) | |
3 | g.128486308C>A | CA354407541 | GATA2 | c.290G>T (p.Trp97Leu) c.572G>T (p.Trp191Leu) | |
3 | g.128486308C>G | CA354407543 | GATA2 | c.290G>C (p.Trp97Ser) c.572G>C (p.Trp191Ser) | |
3 | g.128486308C>T | CA354407544 | GATA2 | c.290G>A (p.Trp97Ter) c.572G>A (p.Trp191Ter) | |
3 | g.128486309A= | CA1400719510 | GATA2 | c.289T= (p.Trp97=) c.571T= (p.Trp191=) | |
3 | g.128486309A>C | CA354407546 | GATA2 | c.289T>G (p.Trp97Gly) c.571T>G (p.Trp191Gly) | |
3 | g.128486309A>G | CA354407548 | GATA2 | c.289T>C (p.Trp97Arg) c.571T>C (p.Trp191Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486309A>T | CA354407551 | GATA2 | c.289T>A (p.Trp97Arg) c.571T>A (p.Trp191Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486309_128486310del | CA2580068754 | GATA2 | c.288_289del (p.Trp97AlafsTer?) c.570_571del (p.Trp191AlafsTer?) | ClinVar |
3 | g.128486310G>A | CA435510353 | GATA2 | c.288C>T (p.Pro96=) c.570C>T (p.Pro190=) | ClinVar dbSNP gnomAD v2 |
3 | g.128486310G>C | CA435510354 | GATA2 | c.288C>G (p.Pro96=) c.570C>G (p.Pro190=) | |
3 | g.128486310G= | CA1400719511 | GATA2 | c.288C= (p.Pro96=) c.570C= (p.Pro190=) | |
3 | g.128486310G>T | CA435510355 | GATA2 | c.288C>A (p.Pro96=) c.570C>A (p.Pro190=) | gnomAD v4 |
3 | g.128486311G>A | CA354407557 | GATA2 | c.287C>T (p.Pro96Leu) c.569C>T (p.Pro190Leu) | gnomAD v4 |
3 | g.128486311G>C | CA354407553 | GATA2 | c.287C>G (p.Pro96Arg) c.569C>G (p.Pro190Arg) | |
3 | g.128486311G>T | CA354407554 | GATA2 | c.287C>A (p.Pro96His) c.569C>A (p.Pro190His) | gnomAD v4 |
3 | g.128486312G>A | CA83372083 | GATA2 | c.286C>T (p.Pro96Ser) c.568C>T (p.Pro190Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486312G>C | CA354407560 | GATA2 | c.286C>G (p.Pro96Ala) c.568C>G (p.Pro190Ala) | |
3 | g.128486312G= | CA1400719512 | GATA2 | c.286C= (p.Pro96=) c.568C= (p.Pro190=) | |
3 | g.128486312G>T | CA354407571 | GATA2 | c.286C>A (p.Pro96Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
3 | g.128486313C>A | CA354407576 | GATA2 | c.285G>T (p.Leu95Phe) c.567G>T (p.Leu189Phe) | gnomAD v4 |
3 | g.128486313C>G | CA354407578 | GATA2 | c.285G>C (p.Leu95Phe) c.567G>C (p.Leu189Phe) | |
3 | g.128486313C>T | CA435510356 | GATA2 | c.285G>A (p.Leu95=) c.567G>A (p.Leu189=) | gnomAD v4 |
3 | g.128486313dup | CA2842177152 | GATA2 | c.285dup (p.Pro96AlafsTer?) c.567dup (p.Pro190AlafsTer?) | |
3 | g.128486314A>C | CA354407581 | GATA2 | c.284T>G (p.Leu95Trp) c.566T>G (p.Leu189Trp) | |
3 | g.128486314A>G | CA354407583 | GATA2 | c.284T>C (p.Leu95Ser) c.566T>C (p.Leu189Ser) | |
3 | g.128486314A>T | CA354407582 | GATA2 | c.284T>A (p.Leu95Ter) c.566T>A (p.Leu189Ter) | |
3 | g.128486315A>C | CA354407584 | GATA2 | c.283T>G (p.Leu95Val) c.565T>G (p.Leu189Val) | ClinVar |
3 | g.128486315A>G | CA435510357 | GATA2 | c.283T>C (p.Leu95=) c.565T>C (p.Leu189=) | |
3 | g.128486315A>T | CA354407585 | GATA2 | c.283T>A (p.Leu95Met) c.565T>A (p.Leu189Met) | |
3 | g.128486316A>C | CA435510358 | GATA2 | c.282T>G (p.Gly94=) c.564T>G (p.Gly188=) | |
3 | g.128486316A>G | CA435510359 | GATA2 | c.282T>C (p.Gly94=) c.564T>C (p.Gly188=) | |
3 | g.128486316A>T | CA435510360 | GATA2 | c.282T>A (p.Gly94=) c.564T>A (p.Gly188=) | |
3 | g.128486317C>A | CA354407593 | GATA2 | c.281G>T (p.Gly94Val) c.563G>T (p.Gly188Val) | ClinVar dbSNP gnomAD v4 |
3 | g.128486317C= | CA1400719513 | GATA2 | c.281G= (p.Gly94=) c.563G= (p.Gly188=) | |
3 | g.128486317C>G | CA354407597 | GATA2 | c.281G>C (p.Gly94Ala) c.563G>C (p.Gly188Ala) | |
3 | g.128486317C>T | CA354407600 | GATA2 | c.281G>A (p.Gly94Asp) c.563G>A (p.Gly188Asp) | |
3 | g.128486319dup | CA2842177153 | GATA2 | c.281dup (p.Leu95PhefsTer?) c.563dup (p.Leu189PhefsTer?) | |
3 | g.128486319del | CA1139768889 | GATA2 | c.281del (p.Gly94ValfsTer25) c.563del (p.Gly188ValfsTer25) | |
3 | g.128486318C>A | CA354407609 | GATA2 | c.280G>T (p.Gly94Cys) c.562G>T (p.Gly188Cys) | gnomAD v4 |
3 | g.128486318C= | CA1400719514 | GATA2 | c.280G= (p.Gly94=) c.562G= (p.Gly188=) | |
3 | g.128486318C>G | CA354407611 | GATA2 | c.280G>C (p.Gly94Arg) c.562G>C (p.Gly188Arg) | |
3 | g.128486318C>T | CA354407614 | GATA2 | c.280G>A (p.Gly94Ser) c.562G>A (p.Gly188Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486319C>A | CA2600048 | GATA2 | c.279G>T (p.Pro93=) c.561G>T (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.128486319C= | CA1400719515 | GATA2 | c.279G= (p.Pro93=) c.561G= (p.Pro187=) | |
3 | g.128486319C>G | CA2600047 | GATA2 | c.279G>C (p.Pro93=) c.561G>C (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486319C>T | CA2600046 | GATA2 | c.279G>A (p.Pro93=) c.561G>A (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486320G>A | CA354407620 | GATA2 | c.278C>T (p.Pro93Leu) c.560C>T (p.Pro187Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486320G>C | CA354407624 | GATA2 | c.278C>G (p.Pro93Arg) c.560C>G (p.Pro187Arg) | gnomAD v4 |
3 | g.128486320G= | CA1400719516 | GATA2 | c.278C= (p.Pro93=) c.560C= (p.Pro187=) | |
3 | g.128486320G>T | CA354407621 | GATA2 | c.278C>A (p.Pro93Gln) c.560C>A (p.Pro187Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.128486321G>A | CA354407628 | GATA2 | c.277C>T (p.Pro93Ser) c.559C>T (p.Pro187Ser) | ClinVar |
3 | g.128486321G>C | CA354407629 | GATA2 | c.277C>G (p.Pro93Ala) c.559C>G (p.Pro187Ala) | |
3 | g.128486321G>T | CA354407630 | GATA2 | c.277C>A (p.Pro93Thr) c.559C>A (p.Pro187Thr) | |
3 | g.128486322G>A | CA435510361 | GATA2 | c.276C>T (p.Ser92=) c.558C>T (p.Ser186=) | |
3 | g.128486322G>C | CA354407631 | GATA2 | c.276C>G (p.Ser92Arg) c.558C>G (p.Ser186Arg) | |
3 | g.128486322G>T | CA354407632 | GATA2 | c.276C>A (p.Ser92Arg) c.558C>A (p.Ser186Arg) | gnomAD v4 COSMIC |
3 | g.128486323C>A | CA354407633 | GATA2 | c.275G>T (p.Ser92Ile) c.557G>T (p.Ser186Ile) | gnomAD v4 |
3 | g.128486323C= | CA1400719517 | GATA2 | c.275G= (p.Ser92=) c.557G= (p.Ser186=) | |
3 | g.128486323C>G | CA354407636 | GATA2 | c.275G>C (p.Ser92Thr) c.557G>C (p.Ser186Thr) | gnomAD v4 |
3 | g.128486323C>T | CA2600049 | GATA2 | c.275G>A (p.Ser92Asn) c.557G>A (p.Ser186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486324T>A | CA354407643 | GATA2 | c.274A>T (p.Ser92Cys) c.556A>T (p.Ser186Cys) | |
3 | g.128486324T>C | CA354407646 | GATA2 | c.274A>G (p.Ser92Gly) c.556A>G (p.Ser186Gly) | |
3 | g.128486324T>G | CA354407648 | GATA2 | c.274A>C (p.Ser92Arg) c.556A>C (p.Ser186Arg) | |
3 | g.128486325G>A | CA435510362 | GATA2 | c.273C>T (p.His91=) c.555C>T (p.His185=) | ClinVar gnomAD v4 |
3 | g.128486325G>C | CA354407652 | GATA2 | c.273C>G (p.His91Gln) c.555C>G (p.His185Gln) | gnomAD v4 |
3 | g.128486325G>T | CA354407659 | GATA2 | c.273C>A (p.His91Gln) c.555C>A (p.His185Gln) | |
3 | g.128486326T>A | CA354407673 | GATA2 | c.272A>T (p.His91Leu) c.554A>T (p.His185Leu) | |
3 | g.128486326T>C | CA354407678 | GATA2 | c.272A>G (p.His91Arg) c.554A>G (p.His185Arg) | gnomAD v4 |
3 | g.128486326T>G | CA354407675 | GATA2 | c.272A>C (p.His91Pro) c.554A>C (p.His185Pro) | |
3 | g.128486327G>A | CA354407690 | GATA2 | c.271C>T (p.His91Tyr) c.553C>T (p.His185Tyr) | gnomAD v4 |
3 | g.128486327G>C | CA354407693 | GATA2 | c.271C>G (p.His91Asp) c.553C>G (p.His185Asp) | |
3 | g.128486327G>T | CA354407695 | GATA2 | c.271C>A (p.His91Asn) c.553C>A (p.His185Asn) | gnomAD v4 |
3 | g.128486328C>A | CA354407698 | GATA2 | c.270G>T (p.Leu90Phe) c.552G>T (p.Leu184Phe) | gnomAD v4 |
3 | g.128486328C>G | CA354407705 | GATA2 | c.270G>C (p.Leu90Phe) c.552G>C (p.Leu184Phe) | |
3 | g.128486328C>T | CA435510364 | GATA2 | c.270G>A (p.Leu90=) c.552G>A (p.Leu184=) | gnomAD v4 |
3 | g.128486329A>C | CA354407708 | GATA2 | c.269T>G (p.Leu90Trp) c.551T>G (p.Leu184Trp) | |
3 | g.128486329A>G | CA354407709 | GATA2 | c.269T>C (p.Leu90Ser) c.551T>C (p.Leu184Ser) | gnomAD v4 |
3 | g.128486329A>T | CA354407711 | GATA2 | c.269T>A (p.Leu90Ter) c.551T>A (p.Leu184Ter) | |
3 | g.128486330A= | CA1400719518 | GATA2 | c.268T= (p.Leu90=) c.550T= (p.Leu184=) | |
3 | g.128486330A>C | CA354407716 | GATA2 | c.268T>G (p.Leu90Val) c.550T>G (p.Leu184Val) | ClinVar |
3 | g.128486330A>G | CA435510365 | GATA2 | c.268T>C (p.Leu90=) c.550T>C (p.Leu184=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486330A>T | CA354407720 | GATA2 | c.268T>A (p.Leu90Met) c.550T>A (p.Leu184Met) | gnomAD v4 |
3 | g.128486331C>A | CA354407726 | GATA2 | c.267G>T (p.Leu89Phe) c.549G>T (p.Leu183Phe) | |
3 | g.128486331C= | CA1400719519 | GATA2 | c.267G= (p.Leu89=) c.549G= (p.Leu183=) | |
3 | g.128486331C>G | CA354407731 | GATA2 | c.267G>C (p.Leu89Phe) c.549G>C (p.Leu183Phe) | |
3 | g.128486331C>T | CA435510366 | GATA2 | c.267G>A (p.Leu89=) c.549G>A (p.Leu183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486332A>C | CA354407733 | GATA2 | c.266T>G (p.Leu89Trp) c.548T>G (p.Leu183Trp) | |
3 | g.128486332A>G | CA354407753 | GATA2 | c.266T>C (p.Leu89Ser) c.548T>C (p.Leu183Ser) | |
3 | g.128486332A>T | CA354407746 | GATA2 | c.266T>A (p.Leu89Ter) c.548T>A (p.Leu183Ter) | |
3 | g.128486333A= | CA1400719520 | GATA2 | c.265T= (p.Leu89=) c.547T= (p.Leu183=) | |
3 | g.128486333A>C | CA354407757 | GATA2 | c.265T>G (p.Leu89Val) c.547T>G (p.Leu183Val) | |
3 | g.128486333A>G | CA2600050 | GATA2 | c.265T>C (p.Leu89=) c.547T>C (p.Leu183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486333A>T | CA354407768 | GATA2 | c.265T>A (p.Leu89Met) c.547T>A (p.Leu183Met) | |
3 | g.128486334G>A | CA435510367 | GATA2 | c.264C>T (p.His88=) c.546C>T (p.His182=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486334G>C | CA354407770 | GATA2 | c.264C>G (p.His88Gln) c.546C>G (p.His182Gln) | |
3 | g.128486334G= | CA1400719521 | GATA2 | c.264C= (p.His88=) c.546C= (p.His182=) | |
3 | g.128486334G>T | CA354407771 | GATA2 | c.264C>A (p.His88Gln) c.546C>A (p.His182Gln) | gnomAD v4 |
3 | g.128486335T>A | CA354407772 | GATA2 | c.263A>T (p.His88Leu) c.545A>T (p.His182Leu) | |
3 | g.128486335T>C | CA354407773 | GATA2 | c.263A>G (p.His88Arg) c.545A>G (p.His182Arg) | gnomAD v4 |
3 | g.128486335T>G | CA354407777 | GATA2 | c.263A>C (p.His88Pro) c.545A>C (p.His182Pro) | |
3 | g.128486336G>A | CA354407779 | GATA2 | c.262C>T (p.His88Tyr) c.544C>T (p.His182Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486336G>C | CA354407784 | GATA2 | c.262C>G (p.His88Asp) c.544C>G (p.His182Asp) | |
3 | g.128486336G= | CA1400719522 | GATA2 | c.262C= (p.His88=) c.544C= (p.His182=) | |
3 | g.128486336G>T | CA354407785 | GATA2 | c.262C>A (p.His88Asn) c.544C>A (p.His182Asn) | gnomAD v4 |
3 | g.128486337T>A | CA435510368 | GATA2 | c.261A>T (p.Pro87=) c.543A>T (p.Pro181=) | |
3 | g.128486337T>C | CA435510369 | GATA2 | c.261A>G (p.Pro87=) c.543A>G (p.Pro181=) | |
3 | g.128486337T>G | CA435510370 | GATA2 | c.261A>C (p.Pro87=) c.543A>C (p.Pro181=) | |
3 | g.128486338G>A | CA354407789 | GATA2 | c.260C>T (p.Pro87Leu) c.542C>T (p.Pro181Leu) | gnomAD v4 |
3 | g.128486338G>C | CA354407787 | GATA2 | c.260C>G (p.Pro87Arg) c.542C>G (p.Pro181Arg) | COSMIC |
3 | g.128486338G>T | CA354407786 | GATA2 | c.260C>A (p.Pro87Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
3 | g.128486339G>A | CA354407792 | GATA2 | c.259C>T (p.Pro87Ser) c.541C>T (p.Pro181Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486339G>C | CA354407795 | GATA2 | c.259C>G (p.Pro87Ala) c.541C>G (p.Pro181Ala) | |
3 | g.128486339G= | CA1400719523 | GATA2 | c.259C= (p.Pro87=) c.541C= (p.Pro181=) | |
3 | g.128486339G>T | CA354407797 | GATA2 | c.259C>A (p.Pro87Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
3 | g.128486340G>A | CA435510371 | GATA2 | c.258C>T (p.Arg86=) c.540C>T (p.Arg180=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486340G>C | CA435510372 | GATA2 | c.258C>G (p.Arg86=) c.540C>G (p.Arg180=) | gnomAD v4 |
3 | g.128486340G= | CA1400719524 | GATA2 | c.258C= (p.Arg86=) c.540C= (p.Arg180=) | |
3 | g.128486340G>T | CA435510373 | GATA2 | c.258C>A (p.Arg86=) c.540C>A (p.Arg180=) | dbSNP gnomAD v4 |
3 | g.128486341_128486342del | CA1139532776 | GATA2 | c.257_258del (p.Arg86ProfsTer?) c.539_540del (p.Arg180ProfsTer?) | ClinVar dbSNP |
3 | g.128486341C>A | CA354407801 | GATA2 | c.257G>T (p.Arg86Leu) c.539G>T (p.Arg180Leu) | gnomAD v4 |
3 | g.128486341C= | CA1400719525 | GATA2 | c.257G= (p.Arg86=) c.539G= (p.Arg180=) | |
3 | g.128486341C>G | CA354407803 | GATA2 | c.257G>C (p.Arg86Pro) c.539G>C (p.Arg180Pro) | |
3 | g.128486341C>T | CA354407806 | GATA2 | c.257G>A (p.Arg86His) c.539G>A (p.Arg180His) | ClinVar dbSNP gnomAD v4 |
3 | g.128486342G>A | CA83372090 | GATA2 | c.256C>T (p.Arg86Cys) c.538C>T (p.Arg180Cys) | dbSNP gnomAD v4 |
3 | g.128486342G>C | CA354407807 | GATA2 | c.256C>G (p.Arg86Gly) c.538C>G (p.Arg180Gly) | |
3 | g.128486342G= | CA1400719526 | GATA2 | c.256C= (p.Arg86=) c.538C= (p.Arg180=) | |
3 | g.128486342G>T | CA354407808 | GATA2 | c.256C>A (p.Arg86Ser) c.538C>A (p.Arg180Ser) | gnomAD v4 |
3 | g.128486343del | CA1139532777 | GATA2 | c.256del (p.Arg86AlafsTer?) c.538del (p.Arg180AlafsTer?) | ClinVar dbSNP |
3 | g.128486343G>A | CA435510375 | GATA2 | c.255C>T (p.Cys85=) c.537C>T (p.Cys179=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486343G>C | CA354407809 | GATA2 | c.255C>G (p.Cys85Trp) c.537C>G (p.Cys179Trp) | |
3 | g.128486343G= | CA1400719527 | GATA2 | c.255C= (p.Cys85=) c.537C= (p.Cys179=) | |
3 | g.128486343G>T | CA354407810 | GATA2 | c.255C>A (p.Cys85Ter) c.537C>A (p.Cys179Ter) | gnomAD v4 |
3 | g.128486344C>A | CA354407818 | GATA2 | c.254G>T (p.Cys85Phe) c.536G>T (p.Cys179Phe) | |
3 | g.128486344C>G | CA354407816 | GATA2 | c.254G>C (p.Cys85Ser) c.536G>C (p.Cys179Ser) | |
3 | g.128486344C>T | CA354407813 | GATA2 | c.254G>A (p.Cys85Tyr) c.536G>A (p.Cys179Tyr) | ClinVar |
3 | g.128486345A>C | CA354407821 | GATA2 | c.253T>G (p.Cys85Gly) c.535T>G (p.Cys179Gly) | |
3 | g.128486345A>G | CA354407828 | GATA2 | c.253T>C (p.Cys85Arg) c.535T>C (p.Cys179Arg) | ClinVar |
3 | g.128486345A>T | CA354407829 | GATA2 | c.253T>A (p.Cys85Ser) c.535T>A (p.Cys179Ser) | |
3 | g.128486345dup | CA2839208400 | GATA2 | c.253dup (p.Cys85LeufsTer?) c.535dup (p.Cys179LeufsTer?) | |
3 | g.128486346C>A | CA354407834 | GATA2 | c.252G>T (p.Met84Ile) c.534G>T (p.Met178Ile) | gnomAD v4 |
3 | g.128486346C>G | CA354407835 | GATA2 | c.252G>C (p.Met84Ile) c.534G>C (p.Met178Ile) | |
3 | g.128486346C>T | CA354407839 | GATA2 | c.252G>A (p.Met84Ile) c.534G>A (p.Met178Ile) | gnomAD v4 |
3 | g.128486347A>C | CA354407843 | GATA2 | c.251T>G (p.Met84Arg) c.533T>G (p.Met178Arg) | |
3 | g.128486347A>G | CA354407844 | GATA2 | c.251T>C (p.Met84Thr) c.533T>C (p.Met178Thr) | |
3 | g.128486347A>T | CA354407846 | GATA2 | c.251T>A (p.Met84Lys) c.533T>A (p.Met178Lys) | |
3 | g.128486348T>A | CA354407848 | GATA2 | c.250A>T (p.Met84Leu) c.532A>T (p.Met178Leu) | gnomAD v4 |
3 | g.128486348T>C | CA354407854 | GATA2 | c.250A>G (p.Met84Val) c.532A>G (p.Met178Val) | gnomAD v4 |
3 | g.128486348T>G | CA354407857 | GATA2 | c.250A>C (p.Met84Leu) c.532A>C (p.Met178Leu) | |
3 | g.128486349C>A | CA354407860 | GATA2 | c.249G>T (p.Gln83His) c.531G>T (p.Gln177His) | dbSNP gnomAD v4 |
3 | g.128486349C= | CA1400719528 | GATA2 | c.249G= (p.Gln83=) c.531G= (p.Gln177=) | |
3 | g.128486349C>G | CA354407859 | GATA2 | c.249G>C (p.Gln83His) c.531G>C (p.Gln177His) | gnomAD v4 |
3 | g.128486349C>T | CA435510376 | GATA2 | c.249G>A (p.Gln83=) c.531G>A (p.Gln177=) | |
3 | g.128486350del | CA2586972847 | GATA2 | c.248del (p.Gln83ArgfsTer?) c.530del (p.Gln177ArgfsTer?) | |
3 | g.128486350T>A | CA354407868 | GATA2 | c.248A>T (p.Gln83Leu) c.530A>T (p.Gln177Leu) | gnomAD v4 |
3 | g.128486350T>C | CA354407870 | GATA2 | c.248A>G (p.Gln83Arg) c.530A>G (p.Gln177Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486350T>G | CA354407872 | GATA2 | c.248A>C (p.Gln83Pro) c.530A>C (p.Gln177Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486350T= | CA1400719529 | GATA2 | c.248A= (p.Gln83=) c.530A= (p.Gln177=) | |
3 | g.128486351G>A | CA354407875 | GATA2 | c.247C>T (p.Gln83Ter) c.529C>T (p.Gln177Ter) | gnomAD v4 |
3 | g.128486351G>C | CA354407878 | GATA2 | c.247C>G (p.Gln83Glu) c.529C>G (p.Gln177Glu) | |
3 | g.128486351G>T | CA354407880 | GATA2 | c.247C>A (p.Gln83Lys) c.529C>A (p.Gln177Lys) | gnomAD v4 |
3 | g.128486352G>A | CA435510377 | GATA2 | c.246C>T (p.Gly82=) c.528C>T (p.Gly176=) | ClinVar gnomAD v4 |
3 | g.128486352G>C | CA435510378 | GATA2 | c.246C>G (p.Gly82=) c.528C>G (p.Gly176=) | |
3 | g.128486352G>T | CA435510379 | GATA2 | c.246C>A (p.Gly82=) c.528C>A (p.Gly176=) | gnomAD v4 |
3 | g.128486352_128486354del | CA2586972848 | GATA2 | c.244_246del (p.Gly82del) c.526_528del (p.Gly176del) | |
3 | g.128486353C>A | CA354407883 | GATA2 | c.245G>T (p.Gly82Val) c.527G>T (p.Gly176Val) | ClinVar gnomAD v4 |
3 | g.128486353C= | CA1400719530 | GATA2 | c.245G= (p.Gly82=) c.527G= (p.Gly176=) | |
3 | g.128486353C>G | CA354407886 | GATA2 | c.245G>C (p.Gly82Ala) c.527G>C (p.Gly176Ala) | |
3 | g.128486353C>T | CA354407888 | GATA2 | c.245G>A (p.Gly82Asp) c.527G>A (p.Gly176Asp) | dbSNP gnomAD v4 |
3 | g.128486354C>A | CA354407891 | GATA2 | c.244G>T (p.Gly82Cys) c.526G>T (p.Gly176Cys) | gnomAD v4 |
3 | g.128486354C= | CA1400719531 | GATA2 | c.244G= (p.Gly82=) c.526G= (p.Gly176=) | |
3 | g.128486354C>G | CA354407894 | GATA2 | c.244G>C (p.Gly82Arg) c.526G>C (p.Gly176Arg) | |
3 | g.128486354C>T | CA354407897 | GATA2 | c.244G>A (p.Gly82Ser) c.526G>A (p.Gly176Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486354_128486355delinsCT | CA1400719532 | GATA2 | c.243_244delinsAG (p.Gly81=) c.525_526delinsAG (p.Gly175=) | |
3 | g.128486355T>A | CA435510381 | GATA2 | c.243A>T (p.Gly81=) c.525A>T (p.Gly175=) | |
3 | g.128486355T>C | CA435510382 | GATA2 | c.243A>G (p.Gly81=) c.525A>G (p.Gly175=) | gnomAD v4 |
3 | g.128486355T>G | CA435510383 | GATA2 | c.243A>C (p.Gly81=) c.525A>C (p.Gly175=) | |
3 | g.128486355delinsGC | CA358694 | GATA2 | c.243delinsGC (p.Gly82ArgfsTer?) c.525delinsGC (p.Gly176ArgfsTer?) | ClinVar dbSNP |
3 | g.128486356C>A | CA354407909 | GATA2 | c.242G>T (p.Gly81Val) c.524G>T (p.Gly175Val) | gnomAD v4 |
3 | g.128486356C= | CA1400719533 | GATA2 | c.242G= (p.Gly81=) c.524G= (p.Gly175=) | |
3 | g.128486356C>G | CA16611184 | GATA2 | c.242G>C (p.Gly81Ala) c.524G>C (p.Gly175Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486356C>T | CA354407906 | GATA2 | c.242G>A (p.Gly81Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
3 | g.128486357C>A | CA354407918 | GATA2 | c.241G>T (p.Gly81Ter) c.523G>T (p.Gly175Ter) | gnomAD v4 |
3 | g.128486357C= | CA1400719534 | GATA2 | c.241G= (p.Gly81=) c.523G= (p.Gly175=) | |
3 | g.128486357C>G | CA354407915 | GATA2 | c.241G>C (p.Gly81Arg) c.523G>C (p.Gly175Arg) | dbSNP gnomAD v4 |
3 | g.128486357C>T | CA83372097 | GATA2 | c.241G>A (p.Gly81Arg) c.523G>A (p.Gly175Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486358G>A | CA83372100 | GATA2 | c.240C>T (p.Thr80=) c.522C>T (p.Thr174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128486358G>C | CA435510384 | GATA2 | c.240C>G (p.Thr80=) c.522C>G (p.Thr174=) | dbSNP |
3 | g.128486358G= | CA1400719535 | GATA2 | c.240C= (p.Thr80=) c.522C= (p.Thr174=) | |
3 | g.128486358G>T | CA435510385 | GATA2 | c.240C>A (p.Thr80=) c.522C>A (p.Thr174=) | gnomAD v4 |
3 | g.128486359dup | CA645523653 | GATA2 | c.240dup (p.Gly81ArgfsTer?) c.522dup (p.Gly175ArgfsTer?) | COSMIC |
3 | g.128486359G>A | CA354407925 | GATA2 | c.239C>T (p.Thr80Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486359G>C | CA354407932 | GATA2 | c.239C>G (p.Thr80Ser) c.521C>G (p.Thr174Ser) | gnomAD v4 |
3 | g.128486359G= | CA1400719536 | GATA2 | c.239C= (p.Thr80=) c.521C= (p.Thr174=) | |
3 | g.128486359G>T | CA354407934 | GATA2 | c.239C>A (p.Thr80Asn) c.521C>A (p.Thr174Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.128486360T>A | CA354407939 | GATA2 | c.238A>T (p.Thr80Ser) c.520A>T (p.Thr174Ser) | |
3 | g.128486360T>C | CA354407940 | GATA2 | c.238A>G (p.Thr80Ala) c.520A>G (p.Thr174Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486360T>G | CA354407946 | GATA2 | c.238A>C (p.Thr80Pro) c.520A>C (p.Thr174Pro) | gnomAD v4 |
3 | g.128486360T= | CA1400719537 | GATA2 | c.238A= (p.Thr80=) c.520A= (p.Thr174=) | |
3 | g.128486361C>A | CA435510386 | GATA2 | c.237G>T (p.Leu79=) c.519G>T (p.Leu173=) | gnomAD v4 |
3 | g.128486361C>G | CA435510387 | GATA2 | c.237G>C (p.Leu79=) c.519G>C (p.Leu173=) | dbSNP |
3 | g.128486361C>T | CA435510388 | GATA2 | c.237G>A (p.Leu79=) c.519G>A (p.Leu173=) | gnomAD v4 COSMIC |
3 | g.128486362A>C | CA354407953 | GATA2 | c.236T>G (p.Leu79Arg) c.518T>G (p.Leu173Arg) | |
3 | g.128486362A>G | CA354407956 | GATA2 | c.236T>C (p.Leu79Pro) c.518T>C (p.Leu173Pro) | ClinVar gnomAD v4 |
3 | g.128486362A>T | CA354407958 | GATA2 | c.236T>A (p.Leu79Gln) c.518T>A (p.Leu173Gln) | gnomAD v4 |
3 | g.128486363G>A | CA435510389 | GATA2 | c.235C>T (p.Leu79=) c.517C>T (p.Leu173=) | |
3 | g.128486363G>C | CA354407960 | GATA2 | c.235C>G (p.Leu79Val) c.517C>G (p.Leu173Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486363G= | CA1400719538 | GATA2 | c.235C= (p.Leu79=) c.517C= (p.Leu173=) | |
3 | g.128486363G>T | CA354407967 | GATA2 | c.235C>A (p.Leu79Met) c.517C>A (p.Leu173Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486364G>A | CA435510390 | GATA2 | c.234C>T (p.Arg78=) c.516C>T (p.Arg172=) | gnomAD v4 |
3 | g.128486364G>C | CA435510391 | GATA2 | c.234C>G (p.Arg78=) c.516C>G (p.Arg172=) | |
3 | g.128486364G>T | CA435510392 | GATA2 | c.234C>A (p.Arg78=) c.516C>A (p.Arg172=) | gnomAD v4 |
3 | g.128486365C>A | CA354407978 | GATA2 | c.233G>T (p.Arg78Leu) c.515G>T (p.Arg172Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486365C= | CA1400719539 | GATA2 | c.233G= (p.Arg78=) c.515G= (p.Arg172=) | |
3 | g.128486365C>G | CA354407972 | GATA2 | c.233G>C (p.Arg78Pro) c.515G>C (p.Arg172Pro) | |
3 | g.128486365C>T | CA83372109 | GATA2 | c.233G>A (p.Arg78His) c.515G>A (p.Arg172His) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486366G>A | CA354407986 | GATA2 | c.232C>T (p.Arg78Cys) c.514C>T (p.Arg172Cys) | gnomAD v4 |
3 | g.128486366G>C | CA354407988 | GATA2 | c.232C>G (p.Arg78Gly) c.514C>G (p.Arg172Gly) | |
3 | g.128486366G>T | CA354407989 | GATA2 | c.232C>A (p.Arg78Ser) c.514C>A (p.Arg172Ser) | ClinVar gnomAD v4 |
3 | g.128486368dup | CA658820608 | GATA2 | c.232dup (p.Arg78ProfsTer?) c.514dup (p.Arg172ProfsTer?) | ClinVar dbSNP |
3 | g.128486368del | CA2667541077 | GATA2 | c.232del (p.Arg78AlafsTer2) c.514del (p.Arg172AlafsTer2) | gnomAD v4 |
3 | g.128486367G>A | CA435510393 | GATA2 | c.231C>T (p.Ala77=) c.513C>T (p.Ala171=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486367G>C | CA435510394 | GATA2 | c.231C>G (p.Ala77=) c.513C>G (p.Ala171=) | |
3 | g.128486367G>T | CA435510395 | GATA2 | c.231C>A (p.Ala77=) c.513C>A (p.Ala171=) | gnomAD v4 |
3 | g.128486367_128486368insCCATCACCTAC | CA2552406085 | GATA2 | c.230_231insGTAGGTGATGG (p.Arg78Ter) c.512_513insGTAGGTGATGG (p.Arg172Ter) | |
3 | g.128486368G>A | CA354407992 | GATA2 | c.230C>T (p.Ala77Val) c.512C>T (p.Ala171Val) | dbSNP gnomAD v4 |
3 | g.128486368G>C | CA354407998 | GATA2 | c.230C>G (p.Ala77Gly) c.512C>G (p.Ala171Gly) | |
3 | g.128486368G= | CA1400719540 | GATA2 | c.230C= (p.Ala77=) c.512C= (p.Ala171=) | |
3 | g.128486368G>T | CA354408000 | GATA2 | c.230C>A (p.Ala77Asp) c.512C>A (p.Ala171Asp) | gnomAD v4 |
3 | g.128486369C>A | CA354408003 | GATA2 | c.230-1G>T (n.230-1G>T) c.512-1G>T (n.512-1G>T) | gnomAD v4 |
3 | g.128486369C>G | CA354408005 | GATA2 | c.230-1G>C (n.230-1G>C) c.512-1G>C (n.512-1G>C) | |
3 | g.128486369C>T | CA354408007 | GATA2 | c.230-1G>A (n.230-1G>A) c.512-1G>A (n.512-1G>A) | gnomAD v4 COSMIC |
3 | g.128486370_128486803del | CA2838031907 | GATA2 | c.229+1_230-1del c.511+1_512-1del | |
3 | g.128486369_128486370insGTGCGCGGGGCTGTAGGAGACGCGCGCCCGCGCGTGAGCGGGGT | CA2838139417 | GATA2 | c.230-2_230-1insACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC (n.230-2_230-1insACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC) c.512-2_512-1insACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC (n.512-2_512-1insACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC) | |
3 | g.128486369_128486370insGTGCGCGGGGCTGTAGGAGACGCGCGCCCGCGCGTGAGCGGGGTTGGCATAGTAGGGGT | CA2838139404 | GATA2 | c.230-2_230-1insACCCCTACTATGCCAACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC (n.230-2_230-1insACCCCTACTATGCCAACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC) c.512-2_512-1insACCCCTACTATGCCAACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC (n.512-2_512-1insACCCCTACTATGCCAACCCCGCTCACGCGCGGGCGCGCGTCTCCTACAGCCCCGCGCAC) | |
3 | g.128486369_128486370insAATTCTGAACATTGCCGGTGCCGGTGACCACGTGGTCGCTTCGCCCTCCGTGTACGGCGGTACCTATAACCTGCTCAAGTACACCCTCGCCGATCTCGGCATCGAAACCACCTTCGT | CA2518105356 | GATA2 | c.230-2_230-1insACGAAGGTGGTTTCGATGCCGAGATCGGCGAGGGTGTACTTGAGCAGGTTATAGGTACCGCCGTACACGGAGGGCGAAGCGACCACGTGGTCACCGGCACCGGCAATGTTCAGAATT (n.230-2_230-1insACGAAGGTGGTTTCGATGCCGAGATCGGCGAGGGTGTACTTGAGCAGGTTATAGGTACCGCCGTACACGGAGGGCGAAGCGACCACGTGGTCACCGGCACCGGCAATGTTCAGAATT) c.512-2_512-1insACGAAGGTGGTTTCGATGCCGAGATCGGCGAGGGTGTACTTGAGCAGGTTATAGGTACCGCCGTACACGGAGGGCGAAGCGACCACGTGGTCACCGGCACCGGCAATGTTCAGAATT (n.512-2_512-1insACGAAGGTGGTTTCGATGCCGAGATCGGCGAGGGTGTACTTGAGCAGGTTATAGGTACCGCCGTACACGGAGGGCGAAGCGACCACGTGGTCACCGGCACCGGCAATGTTCAGAATT) | |
3 | g.128486370T>A | CA354408016 | GATA2 | c.230-2A>T (n.230-2A>T) c.512-2A>T (n.512-2A>T) | |
3 | g.128486370T>C | CA354408018 | GATA2 | c.230-2A>G (n.230-2A>G) c.512-2A>G (n.512-2A>G) | gnomAD v4 |
3 | g.128486370T>G | CA354408022 | GATA2 | c.230-2A>C (n.230-2A>C) c.512-2A>C (n.512-2A>C) | |
3 | g.128486371G>A | CA2667541079 | GATA2 | c.230-3C>T (n.230-3C>T) c.512-3C>T (n.512-3C>T) | gnomAD v4 |
3 | g.128486371G>T | CA2667541078 | GATA2 | c.230-3C>A (n.230-3C>A) c.512-3C>A (n.512-3C>A) | gnomAD v4 |
3 | g.128486372del | CA2840404340 | GATA2 | c.230-4del (n.230-4del) c.512-4del (n.512-4del) | |
3 | g.128486372C= | CA1400719541 | GATA2 | c.230-4G= (n.230-4G=) c.512-4G= (n.512-4G=) | |
3 | g.128486372C>T | CA2600051 | GATA2 | c.230-4G>A (n.230-4G>A) c.512-4G>A (n.512-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486373G>A | CA546098525 | GATA2 | c.230-5C>T (n.230-5C>T) c.512-5C>T (n.512-5C>T) | ClinVar gnomAD v2 gnomAD v4 |
3 | g.128486373G= | CA1400719542 | GATA2 | c.230-5C= (n.230-5C=) c.512-5C= (n.512-5C=) | |
3 | g.128486373G>T | CA2667541081 | GATA2 | c.230-5C>A (n.230-5C>A) c.512-5C>A (n.512-5C>A) | gnomAD v4 |
3 | g.128486375del | CA2667541080 | GATA2 | c.230-5del (n.230-5del) c.512-5del (n.512-5del) | gnomAD v4 |
3 | g.128486374G>A | CA2573136508 | GATA2 | c.230-6C>T (n.230-6C>T) c.512-6C>T (n.512-6C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.128486374G>C | CA2667541082 | GATA2 | c.230-6C>G (n.230-6C>G) c.512-6C>G (n.512-6C>G) | ClinVar gnomAD v4 |
3 | g.128486374G>T | CA2667541083 | GATA2 | c.230-6C>A (n.230-6C>A) c.512-6C>A (n.512-6C>A) | gnomAD v4 |
3 | g.128486385_128486386insAAGGCAAAGAGAGA | CA546098526 | GATA2 | c.230-6_230-5insTTTCTCTCTTTGCC (n.230-6_230-5insTTTCTCTCTTTGCC) c.512-6_512-5insTTTCTCTCTTTGCC (n.512-6_512-5insTTTCTCTCTTTGCC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486375G>A | CA1053363328 | GATA2 | c.230-7C>T (n.230-7C>T) c.512-7C>T (n.512-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486375G= | CA1400719543 | GATA2 | c.230-7C= (n.230-7C=) c.512-7C= (n.512-7C=) | |
3 | g.128486375G>T | CA2600052 | GATA2 | c.230-7C>A (n.230-7C>A) c.512-7C>A (n.512-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486375_128486376insTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTC | CA2667541084 | GATA2 | c.230-8_230-7insGAAGAGGGGAGCATTTGCGTTTTTGTGGTGGGGAGCTGTGA (n.230-8_230-7insGAAGAGGGGAGCATTTGCGTTTTTGTGGTGGGGAGCTGTGA) c.512-8_512-7insGAAGAGGGGAGCATTTGCGTTTTTGTGGTGGGGAGCTGTGA (n.512-8_512-7insGAAGAGGGGAGCATTTGCGTTTTTGTGGTGGGGAGCTGTGA) | gnomAD v4 |
3 | g.128486376C>A | CA2600054 | GATA2 | c.230-8G>T (n.230-8G>T) c.512-8G>T (n.512-8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486376C= | CA1400719545 | GATA2 | c.230-8G= (n.230-8G=) c.512-8G= (n.512-8G=) | |
3 | g.128486376C>G | CA2667541085 | GATA2 | c.230-8G>C (n.230-8G>C) c.512-8G>C (n.512-8G>C) | gnomAD v4 |
3 | g.128486376C>T | CA2840404342 | GATA2 | c.230-8G>A (n.230-8G>A) c.512-8G>A (n.512-8G>A) | |
3 | g.128486376_128486378delinsCAA | CA1400719544 | GATA2 | c.230-10_230-8delinsTTG (n.230-10_230-8delinsTTG) c.512-10_512-8delinsTTG (n.512-10_512-8delinsTTG) | |
3 | g.128486376_128486380delinsCAAAG | CA1400719546 | GATA2 | c.230-12_230-8delinsCTTTG (n.230-12_230-8delinsCTTTG) c.512-12_512-8delinsCTTTG (n.512-12_512-8delinsCTTTG) | |
3 | g.128486377A>G | CA2667541086 | GATA2 | c.230-9T>C (n.230-9T>C) c.512-9T>C (n.512-9T>C) | gnomAD v4 |
3 | g.128486379del | CA2667541087 | GATA2 | c.230-9del (n.230-9del) c.512-9del (n.512-9del) | gnomAD v4 |
3 | g.128486378_128486379del | CA1400719547 | GATA2 | c.230-10_230-9del (n.230-10_230-9del) c.512-10_512-9del (n.512-10_512-9del) | dbSNP gnomAD v4 |
3 | g.128486378_128486381del | CA2600053 | GATA2 | c.230-12_230-9del (n.230-12_230-9del) c.512-12_512-9del (n.512-12_512-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486378A= | CA1400719549 | GATA2 | c.230-10T= (n.230-10T=) c.512-10T= (n.512-10T=) | |
3 | g.128486378A>C | CA546098527 | GATA2 | c.230-10T>G (n.230-10T>G) c.512-10T>G (n.512-10T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486378A>G | CA1400719550 | GATA2 | c.230-10T>C (n.230-10T>C) c.512-10T>C (n.512-10T>C) | dbSNP |
3 | g.128486378_128486382delinsAAGAG | CA1400719548 | GATA2 | c.230-14_230-10delinsCTCTT (n.230-14_230-10delinsCTCTT) c.512-14_512-10delinsCTCTT (n.512-14_512-10delinsCTCTT) | |
3 | g.128486379A>G | CA2667541088 | GATA2 | c.230-11T>C (n.230-11T>C) c.512-11T>C (n.512-11T>C) | gnomAD v4 |
3 | g.128486387_128486388del | CA435510397 | GATA2 | c.230-12_230-11del (n.230-12_230-11del) c.512-12_512-11del (n.512-12_512-11del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486385_128486388del | CA546098528 | GATA2 | c.230-14_230-11del (n.230-14_230-11del) c.512-14_512-11del (n.512-14_512-11del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486380G>A | CA2573136509 | GATA2 | c.230-12C>T (n.230-12C>T) c.512-12C>T (n.512-12C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.128486380G>T | CA2667541089 | GATA2 | c.230-12C>A (n.230-12C>A) c.512-12C>A (n.512-12C>A) | gnomAD v4 |
3 | g.128486381A>G | CA2667541090 | GATA2 | c.230-13T>C (n.230-13T>C) c.512-13T>C (n.512-13T>C) | gnomAD v4 |
3 | g.128486382G>A | CA83372119 | GATA2 | c.230-14C>T (n.230-14C>T) c.512-14C>T (n.512-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486382G= | CA1400719551 | GATA2 | c.230-14C= (n.230-14C=) c.512-14C= (n.512-14C=) | |
3 | g.128486382G>T | CA2667541091 | GATA2 | c.230-14C>A (n.230-14C>A) c.512-14C>A (n.512-14C>A) | gnomAD v4 |
3 | g.128486383A>G | CA2667541092 | GATA2 | c.230-15T>C (n.230-15T>C) c.512-15T>C (n.512-15T>C) | gnomAD v4 |
3 | g.128486384G>C | CA2573136510 | GATA2 | c.230-16C>G (n.230-16C>G) c.512-16C>G (n.512-16C>G) | ClinVar dbSNP |
3 | g.128486384G>T | CA2667541093 | GATA2 | c.230-16C>A (n.230-16C>A) c.512-16C>A (n.512-16C>A) | gnomAD v4 |
3 | g.128486385A= | CA1400719552 | GATA2 | c.230-17T= (n.230-17T=) c.512-17T= (n.512-17T=) | |
3 | g.128486385A>G | CA2600055 | GATA2 | c.230-17T>C (n.230-17T>C) c.512-17T>C (n.512-17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486385A>T | CA2667541094 | GATA2 | c.230-17T>A (n.230-17T>A) c.512-17T>A (n.512-17T>A) | gnomAD v4 |
3 | g.128486386G>A | CA83372123 | GATA2 | c.230-18C>T (n.230-18C>T) c.512-18C>T (n.512-18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486386G>C | CA546098529 | GATA2 | c.230-18C>G (n.230-18C>G) c.512-18C>G (n.512-18C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486386G= | CA1400719553 | GATA2 | c.230-18C= (n.230-18C=) c.512-18C= (n.512-18C=) | |
3 | g.128486386G>T | CA2667541095 | GATA2 | c.230-18C>A (n.230-18C>A) c.512-18C>A (n.512-18C>A) | gnomAD v4 |
3 | g.128486387A>G | CA2667541096 | GATA2 | c.230-19T>C (n.230-19T>C) c.512-19T>C (n.512-19T>C) | gnomAD v4 |
3 | g.128486388G>A | CA2577890769 | GATA2 | c.230-20C>T (n.230-20C>T) c.512-20C>T (n.512-20C>T) | ClinVar gnomAD v4 |
3 | g.128486388G>T | CA2667541097 | GATA2 | c.230-20C>A (n.230-20C>A) c.512-20C>A (n.512-20C>A) | gnomAD v4 |
3 | g.128486388_128486406delinsGGATCAGGGTGGGCAGAAA | CA1400719554 | GATA2 | c.230-38_230-20delinsTTTCTGCCCACCCTGATCC (n.230-38_230-20delinsTTTCTGCCCACCCTGATCC) c.512-38_512-20delinsTTTCTGCCCACCCTGATCC (n.512-38_512-20delinsTTTCTGCCCACCCTGATCC) | |
3 | g.128486389G>A | CA546098531 | GATA2 | c.230-21C>T (n.230-21C>T) c.512-21C>T (n.512-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486389G= | CA1400719555 | GATA2 | c.230-21C= (n.230-21C=) c.512-21C= (n.512-21C=) | |
3 | g.128486389G>T | CA546098532 | GATA2 | c.230-21C>A (n.230-21C>A) c.512-21C>A (n.512-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486398_128486415dup | CA546098533 | GATA2 | c.230-38_230-21dup (n.230-38_230-21dup) c.512-38_512-21dup (n.512-38_512-21dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486398_128486415del | CA546098530 | GATA2 | c.230-38_230-21del (n.230-38_230-21del) c.512-38_512-21del (n.512-38_512-21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486390A= | CA1400719557 | GATA2 | c.230-22T= (n.230-22T=) c.512-22T= (n.512-22T=) | |
3 | g.128486390A>G | CA1400719556 | GATA2 | c.230-22T>C (n.230-22T>C) c.512-22T>C (n.512-22T>C) | dbSNP |
3 | g.128486390A>T | CA2667541098 | GATA2 | c.230-22T>A (n.230-22T>A) c.512-22T>A (n.512-22T>A) | gnomAD v4 |
3 | g.128486391T>A | CA2758339483 | GATA2 | c.230-23A>T (n.230-23A>T) c.512-23A>T (n.512-23A>T) | |
3 | g.128486392C>A | CA2667541099 | GATA2 | c.230-24G>T (n.230-24G>T) c.512-24G>T (n.512-24G>T) | gnomAD v4 |
3 | g.128486392C= | CA1400719558 | GATA2 | c.230-24G= (n.230-24G=) c.512-24G= (n.512-24G=) | |
3 | g.128486392C>G | CA2667541100 | GATA2 | c.230-24G>C (n.230-24G>C) c.512-24G>C (n.512-24G>C) | gnomAD v4 |
3 | g.128486392C>T | CA2600056 | GATA2 | c.230-24G>A (n.230-24G>A) c.512-24G>A (n.512-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486393A>G | CA2577890770 | GATA2 | c.230-25T>C (n.230-25T>C) c.512-25T>C (n.512-25T>C) | gnomAD v4 |
3 | g.128486393A>T | CA2667541101 | GATA2 | c.230-25T>A (n.230-25T>A) c.512-25T>A (n.512-25T>A) | gnomAD v4 |
3 | g.128486393_128486394delinsAG | CA1400719559 | GATA2 | c.230-26_230-25delinsCT (n.230-26_230-25delinsCT) c.512-26_512-25delinsCT (n.512-26_512-25delinsCT) | |
3 | g.128486394G>A | CA2667541102 | GATA2 | c.230-26C>T (n.230-26C>T) c.512-26C>T (n.512-26C>T) | gnomAD v4 |
3 | g.128486394G>C | CA2600058 | GATA2 | c.230-26C>G (n.230-26C>G) c.512-26C>G (n.512-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486394G= | CA1400719560 | GATA2 | c.230-26C= (n.230-26C=) c.512-26C= (n.512-26C=) | |
3 | g.128486394G>T | CA2667541103 | GATA2 | c.230-26C>A (n.230-26C>A) c.512-26C>A (n.512-26C>A) | gnomAD v4 |
3 | g.128486396del | CA2600057 | GATA2 | c.230-26del (n.230-26del) c.512-26del (n.512-26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486395G>A | CA546098534 | GATA2 | c.230-27C>T (n.230-27C>T) c.512-27C>T (n.512-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486395G= | CA1400719561 | GATA2 | c.230-27C= (n.230-27C=) c.512-27C= (n.512-27C=) | |
3 | g.128486395G>T | CA2667541104 | GATA2 | c.230-27C>A (n.230-27C>A) c.512-27C>A (n.512-27C>A) | gnomAD v4 |