Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.128481765_128481836del | CA2580068704 | GATA2 | c.1126_1143+54del c.1408_1425+54del c.109_126+54del c.1084_1101+54del n.243_260+54del | ClinVar |
3 | g.128481776G= | CA1400714932 | GATA2 | c.1143+43C= (n.1143+43C=) c.1425+43C= (n.1425+43C=) c.126+43C= (n.126+43C=) c.1101+43C= (n.1101+43C=) n.260+43C= | |
3 | g.128481776G>T | CA2599840 | GATA2 | c.1143+43C>A (n.1143+43C>A) c.1425+43C>A (n.1425+43C>A) c.126+43C>A (n.126+43C>A) c.1101+43C>A (n.1101+43C>A) n.260+43C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481778C>A | CA2599841 | GATA2 | c.1143+41G>T (n.1143+41G>T) c.1425+41G>T (n.1425+41G>T) c.126+41G>T (n.126+41G>T) c.1101+41G>T (n.1101+41G>T) n.260+41G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481778C= | CA1400714934 | GATA2 | c.1143+41G= (n.1143+41G=) c.1425+41G= (n.1425+41G=) c.126+41G= (n.126+41G=) c.1101+41G= (n.1101+41G=) n.260+41G= | |
3 | g.128481781del | CA2667540493 | GATA2 | c.1143+41del (n.1143+41del) c.1425+41del (n.1425+41del) c.126+41del (n.126+41del) c.1101+41del (n.1101+41del) n.260+41del | gnomAD v4 |
3 | g.128481779C= | CA1400714936 | GATA2 | c.1143+40G= (n.1143+40G=) c.1425+40G= (n.1425+40G=) c.126+40G= (n.126+40G=) c.1101+40G= (n.1101+40G=) n.260+40G= | |
3 | g.128481779C>T | CA83376491 | GATA2 | c.1143+40G>A (n.1143+40G>A) c.1425+40G>A (n.1425+40G>A) c.126+40G>A (n.126+40G>A) c.1101+40G>A (n.1101+40G>A) n.260+40G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481781C= | CA1400714938 | GATA2 | c.1143+38G= (n.1143+38G=) c.1425+38G= (n.1425+38G=) c.126+38G= (n.126+38G=) c.1101+38G= (n.1101+38G=) n.260+38G= | |
3 | g.128481781C>G | CA2599842 | GATA2 | c.1143+38G>C (n.1143+38G>C) c.1425+38G>C (n.1425+38G>C) c.126+38G>C (n.126+38G>C) c.1101+38G>C (n.1101+38G>C) n.260+38G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481781C>T | CA83376494 | GATA2 | c.1143+38G>A (n.1143+38G>A) c.1425+38G>A (n.1425+38G>A) c.126+38G>A (n.126+38G>A) c.1101+38G>A (n.1101+38G>A) n.260+38G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481783G>A | CA1053361315 | GATA2 | c.1143+36C>T (n.1143+36C>T) c.1425+36C>T (n.1425+36C>T) c.126+36C>T (n.126+36C>T) c.1101+36C>T (n.1101+36C>T) n.260+36C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128481783G= | CA1400714941 | GATA2 | c.1143+36C= (n.1143+36C=) c.1425+36C= (n.1425+36C=) c.126+36C= (n.126+36C=) c.1101+36C= (n.1101+36C=) n.260+36C= | |
3 | g.128481784_128481790dup | CA2577890700 | GATA2 | c.1143+30_1143+36dup (n.1143+30_1143+36dup) c.1425+30_1425+36dup (n.1425+30_1425+36dup) c.126+30_126+36dup (n.126+30_126+36dup) c.1101+30_1101+36dup (n.1101+30_1101+36dup) n.260+30_260+36dup | |
3 | g.128481784G>T | CA2667540494 | GATA2 | c.1143+35C>A (n.1143+35C>A) c.1425+35C>A (n.1425+35C>A) c.126+35C>A (n.126+35C>A) c.1101+35C>A (n.1101+35C>A) n.260+35C>A | gnomAD v4 |
3 | g.128481785G>T | CA2667540495 | GATA2 | c.1143+34C>A (n.1143+34C>A) c.1425+34C>A (n.1425+34C>A) c.126+34C>A (n.126+34C>A) c.1101+34C>A (n.1101+34C>A) n.260+34C>A | gnomAD v4 |
3 | g.128481786A= | CA1400714943 | GATA2 | c.1143+33T= (n.1143+33T=) c.1425+33T= (n.1425+33T=) c.126+33T= (n.126+33T=) c.1101+33T= (n.1101+33T=) n.260+33T= | |
3 | g.128481786A>G | CA2599843 | GATA2 | c.1143+33T>C (n.1143+33T>C) c.1425+33T>C (n.1425+33T>C) c.126+33T>C (n.126+33T>C) c.1101+33T>C (n.1101+33T>C) n.260+33T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481786A>T | CA2577890701 | GATA2 | c.1143+33T>A (n.1143+33T>A) c.1425+33T>A (n.1425+33T>A) c.126+33T>A (n.126+33T>A) c.1101+33T>A (n.1101+33T>A) n.260+33T>A | gnomAD v4 |
3 | g.128481787G>A | CA546105611 | GATA2 | c.1143+32C>T (n.1143+32C>T) c.1425+32C>T (n.1425+32C>T) c.126+32C>T (n.126+32C>T) c.1101+32C>T (n.1101+32C>T) n.260+32C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481787G>C | CA2667540497 | GATA2 | c.1143+32C>G (n.1143+32C>G) c.1425+32C>G (n.1425+32C>G) c.126+32C>G (n.126+32C>G) c.1101+32C>G (n.1101+32C>G) n.260+32C>G | gnomAD v4 |
3 | g.128481787G= | CA1400714946 | GATA2 | c.1143+32C= (n.1143+32C=) c.1425+32C= (n.1425+32C=) c.126+32C= (n.126+32C=) c.1101+32C= (n.1101+32C=) n.260+32C= | |
3 | g.128481796_128481809dup | CA2577890702 | GATA2 | c.1143+19_1143+32dup (n.1143+19_1143+32dup) c.1425+19_1425+32dup (n.1425+19_1425+32dup) c.126+19_126+32dup (n.126+19_126+32dup) c.1101+19_1101+32dup (n.1101+19_1101+32dup) n.260+19_260+32dup | |
3 | g.128481796_128481809del | CA2667540496 | GATA2 | c.1143+19_1143+32del (n.1143+19_1143+32del) c.1425+19_1425+32del (n.1425+19_1425+32del) c.126+19_126+32del (n.126+19_126+32del) c.1101+19_1101+32del (n.1101+19_1101+32del) n.260+19_260+32del | gnomAD v4 |
3 | g.128481788G>A | CA2667540498 | GATA2 | c.1143+31C>T (n.1143+31C>T) c.1425+31C>T (n.1425+31C>T) c.126+31C>T (n.126+31C>T) c.1101+31C>T (n.1101+31C>T) n.260+31C>T | gnomAD v4 |
3 | g.128481790_128481798dup | CA546105612 | GATA2 | c.1143+23_1143+31dup (n.1143+23_1143+31dup) c.1425+23_1425+31dup (n.1425+23_1425+31dup) c.126+23_126+31dup (n.126+23_126+31dup) c.1101+23_1101+31dup (n.1101+23_1101+31dup) n.260+23_260+31dup | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128481789G>C | CA2599844 | GATA2 | c.1143+30C>G (n.1143+30C>G) c.1425+30C>G (n.1425+30C>G) c.126+30C>G (n.126+30C>G) c.1101+30C>G (n.1101+30C>G) n.260+30C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481789G= | CA1400714951 | GATA2 | c.1143+30C= (n.1143+30C=) c.1425+30C= (n.1425+30C=) c.126+30C= (n.126+30C=) c.1101+30C= (n.1101+30C=) n.260+30C= | |
3 | g.128481789G>T | CA546105614 | GATA2 | c.1143+30C>A (n.1143+30C>A) c.1425+30C>A (n.1425+30C>A) c.126+30C>A (n.126+30C>A) c.1101+30C>A (n.1101+30C>A) n.260+30C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481790G>A | CA2667540499 | GATA2 | c.1143+29C>T (n.1143+29C>T) c.1425+29C>T (n.1425+29C>T) c.126+29C>T (n.126+29C>T) c.1101+29C>T (n.1101+29C>T) n.260+29C>T | gnomAD v4 |
3 | g.128481790G>T | CA2667540500 | GATA2 | c.1143+29C>A (n.1143+29C>A) c.1425+29C>A (n.1425+29C>A) c.126+29C>A (n.126+29C>A) c.1101+29C>A (n.1101+29C>A) n.260+29C>A | gnomAD v4 |
3 | g.128481791C>A | CA2667540501 | GATA2 | c.1143+28G>T (n.1143+28G>T) c.1425+28G>T (n.1425+28G>T) c.126+28G>T (n.126+28G>T) c.1101+28G>T (n.1101+28G>T) n.260+28G>T | gnomAD v4 |
3 | g.128481791C= | CA1400714956 | GATA2 | c.1143+28G= (n.1143+28G=) c.1425+28G= (n.1425+28G=) c.126+28G= (n.126+28G=) c.1101+28G= (n.1101+28G=) n.260+28G= | |
3 | g.128481791C>G | CA898647513 | GATA2 | c.1143+28G>C (n.1143+28G>C) c.1425+28G>C (n.1425+28G>C) c.126+28G>C (n.126+28G>C) c.1101+28G>C (n.1101+28G>C) n.260+28G>C | dbSNP gnomAD v4 |
3 | g.128481791C>T | CA2599845 | GATA2 | c.1143+28G>A (n.1143+28G>A) c.1425+28G>A (n.1425+28G>A) c.126+28G>A (n.126+28G>A) c.1101+28G>A (n.1101+28G>A) n.260+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481792G>A | CA2599846 | GATA2 | c.1143+27C>T (n.1143+27C>T) c.1425+27C>T (n.1425+27C>T) c.126+27C>T (n.126+27C>T) c.1101+27C>T (n.1101+27C>T) n.260+27C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481792G= | CA1400714960 | GATA2 | c.1143+27C= (n.1143+27C=) c.1425+27C= (n.1425+27C=) c.126+27C= (n.126+27C=) c.1101+27C= (n.1101+27C=) n.260+27C= | |
3 | g.128481792G>T | CA648278830 | GATA2 | c.1143+27C>A (n.1143+27C>A) c.1425+27C>A (n.1425+27C>A) c.126+27C>A (n.126+27C>A) c.1101+27C>A (n.1101+27C>A) n.260+27C>A | gnomAD v4 COSMIC |
3 | g.128481795del | CA2667540502 | GATA2 | c.1143+27del (n.1143+27del) c.1425+27del (n.1425+27del) c.126+27del (n.126+27del) c.1101+27del (n.1101+27del) n.260+27del | gnomAD v4 |
3 | g.128481793G>A | CA546105616 | GATA2 | c.1143+26C>T (n.1143+26C>T) c.1425+26C>T (n.1425+26C>T) c.126+26C>T (n.126+26C>T) c.1101+26C>T (n.1101+26C>T) n.260+26C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481793G= | CA1400714963 | GATA2 | c.1143+26C= (n.1143+26C=) c.1425+26C= (n.1425+26C=) c.126+26C= (n.126+26C=) c.1101+26C= (n.1101+26C=) n.260+26C= | |
3 | g.128481793G>T | CA2667540503 | GATA2 | c.1143+26C>A (n.1143+26C>A) c.1425+26C>A (n.1425+26C>A) c.126+26C>A (n.126+26C>A) c.1101+26C>A (n.1101+26C>A) n.260+26C>A | gnomAD v4 |
3 | g.128481794G>A | CA2577890704 | GATA2 | c.1143+25C>T (n.1143+25C>T) c.1425+25C>T (n.1425+25C>T) c.126+25C>T (n.126+25C>T) c.1101+25C>T (n.1101+25C>T) n.260+25C>T | |
3 | g.128481794G>T | CA2758339664 | GATA2 | c.1143+25C>A (n.1143+25C>A) c.1425+25C>A (n.1425+25C>A) c.126+25C>A (n.126+25C>A) c.1101+25C>A (n.1101+25C>A) n.260+25C>A | |
3 | g.128481795G>A | CA2667540504 | GATA2 | c.1143+24C>T (n.1143+24C>T) c.1425+24C>T (n.1425+24C>T) c.126+24C>T (n.126+24C>T) c.1101+24C>T (n.1101+24C>T) n.260+24C>T | gnomAD v4 |
3 | g.128481796T>C | CA546105618 | GATA2 | c.1143+23A>G (n.1143+23A>G) c.1425+23A>G (n.1425+23A>G) c.126+23A>G (n.126+23A>G) c.1101+23A>G (n.1101+23A>G) n.260+23A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128481796T>G | CA2599847 | GATA2 | c.1143+23A>C (n.1143+23A>C) c.1425+23A>C (n.1425+23A>C) c.126+23A>C (n.126+23A>C) c.1101+23A>C (n.1101+23A>C) n.260+23A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481796T= | CA1400714966 | GATA2 | c.1143+23A= (n.1143+23A=) c.1425+23A= (n.1425+23A=) c.126+23A= (n.126+23A=) c.1101+23A= (n.1101+23A=) n.260+23A= | |
3 | g.128481796_128481800del | CA2667540505 | GATA2 | c.1143+19_1143+23del (n.1143+19_1143+23del) c.1425+19_1425+23del (n.1425+19_1425+23del) c.126+19_126+23del (n.126+19_126+23del) c.1101+19_1101+23del (n.1101+19_1101+23del) n.260+19_260+23del | gnomAD v4 |
3 | g.128481796_128481802delinsTGGCCGG | CA1400714968 | GATA2 | c.1143+17_1143+23delinsCCGGCCA (n.1143+17_1143+23delinsCCGGCCA) c.1425+17_1425+23delinsCCGGCCA (n.1425+17_1425+23delinsCCGGCCA) c.126+17_126+23delinsCCGGCCA (n.126+17_126+23delinsCCGGCCA) c.1101+17_1101+23delinsCCGGCCA (n.1101+17_1101+23delinsCCGGCCA) n.260+17_260+23delinsCCGGCCA | |
3 | g.128481797G>A | CA2667540506 | GATA2 | c.1143+22C>T (n.1143+22C>T) c.1425+22C>T (n.1425+22C>T) c.126+22C>T (n.126+22C>T) c.1101+22C>T (n.1101+22C>T) n.260+22C>T | gnomAD v4 |
3 | g.128481800_128481805del | CA1400714970 | GATA2 | c.1143+17_1143+22del (n.1143+17_1143+22del) c.1425+17_1425+22del (n.1425+17_1425+22del) c.126+17_126+22del (n.126+17_126+22del) c.1101+17_1101+22del (n.1101+17_1101+22del) n.260+17_260+22del | dbSNP |
3 | g.128481798G>A | CA2577890705 | GATA2 | c.1143+21C>T (n.1143+21C>T) c.1425+21C>T (n.1425+21C>T) c.126+21C>T (n.126+21C>T) c.1101+21C>T (n.1101+21C>T) n.260+21C>T | gnomAD v4 |
3 | g.128481798_128481799delinsGC | CA1400714971 | GATA2 | c.1143+20_1143+21delinsGC (n.1143+20_1143+21delinsGC) c.1425+20_1425+21delinsGC (n.1425+20_1425+21delinsGC) c.126+20_126+21delinsGC (n.126+20_126+21delinsGC) c.1101+20_1101+21delinsGC (n.1101+20_1101+21delinsGC) n.260+20_260+21delinsGC | |
3 | g.128481799C>A | CA2599849 | GATA2 | c.1143+20G>T (n.1143+20G>T) c.1425+20G>T (n.1425+20G>T) c.126+20G>T (n.126+20G>T) c.1101+20G>T (n.1101+20G>T) n.260+20G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481799C= | CA1400714978 | GATA2 | c.1143+20G= (n.1143+20G=) c.1425+20G= (n.1425+20G=) c.126+20G= (n.126+20G=) c.1101+20G= (n.1101+20G=) n.260+20G= | |
3 | g.128481799C>T | CA2573136506 | GATA2 | c.1143+20G>A (n.1143+20G>A) c.1425+20G>A (n.1425+20G>A) c.126+20G>A (n.126+20G>A) c.1101+20G>A (n.1101+20G>A) n.260+20G>A | ClinVar dbSNP gnomAD v4 |
3 | g.128481800del | CA2599848 | GATA2 | c.1143+20del (n.1143+20del) c.1425+20del (n.1425+20del) c.126+20del (n.126+20del) c.1101+20del (n.1101+20del) n.260+20del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481800C= | CA1400714981 | GATA2 | c.1143+19G= (n.1143+19G=) c.1425+19G= (n.1425+19G=) c.126+19G= (n.126+19G=) c.1101+19G= (n.1101+19G=) n.260+19G= | |
3 | g.128481800C>G | CA2599850 | GATA2 | c.1143+19G>C (n.1143+19G>C) c.1425+19G>C (n.1425+19G>C) c.126+19G>C (n.126+19G>C) c.1101+19G>C (n.1101+19G>C) n.260+19G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481800C>T | CA2599851 | GATA2 | c.1143+19G>A (n.1143+19G>A) c.1425+19G>A (n.1425+19G>A) c.126+19G>A (n.126+19G>A) c.1101+19G>A (n.1101+19G>A) n.260+19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481807_128481811del | CA2577890709 | GATA2 | c.1143+15_1143+19del (n.1143+15_1143+19del) c.1425+15_1425+19del (n.1425+15_1425+19del) c.126+15_126+19del (n.126+15_126+19del) c.1101+15_1101+19del (n.1101+15_1101+19del) n.260+15_260+19del | |
3 | g.128481801G>A | CA2599853 | GATA2 | c.1143+18C>T (n.1143+18C>T) c.1425+18C>T (n.1425+18C>T) c.126+18C>T (n.126+18C>T) c.1101+18C>T (n.1101+18C>T) n.260+18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481801G= | CA1400714983 | GATA2 | c.1143+18C= (n.1143+18C=) c.1425+18C= (n.1425+18C=) c.126+18C= (n.126+18C=) c.1101+18C= (n.1101+18C=) n.260+18C= | |
3 | g.128481801G>T | CA2599852 | GATA2 | c.1143+18C>A (n.1143+18C>A) c.1425+18C>A (n.1425+18C>A) c.126+18C>A (n.126+18C>A) c.1101+18C>A (n.1101+18C>A) n.260+18C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481802G>A | CA2599854 | GATA2 | c.1143+17C>T (n.1143+17C>T) c.1425+17C>T (n.1425+17C>T) c.126+17C>T (n.126+17C>T) c.1101+17C>T (n.1101+17C>T) n.260+17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481802G= | CA1400714986 | GATA2 | c.1143+17C= (n.1143+17C=) c.1425+17C= (n.1425+17C=) c.126+17C= (n.126+17C=) c.1101+17C= (n.1101+17C=) n.260+17C= | |
3 | g.128481803G>A | CA2599855 | GATA2 | c.1143+16C>T (n.1143+16C>T) c.1425+16C>T (n.1425+16C>T) c.126+16C>T (n.126+16C>T) c.1101+16C>T (n.1101+16C>T) n.260+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481803G>C | CA2667540507 | GATA2 | c.1143+16C>G (n.1143+16C>G) c.1425+16C>G (n.1425+16C>G) c.126+16C>G (n.126+16C>G) c.1101+16C>G (n.1101+16C>G) n.260+16C>G | gnomAD v4 |
3 | g.128481803G= | CA1400714988 | GATA2 | c.1143+16C= (n.1143+16C=) c.1425+16C= (n.1425+16C=) c.126+16C= (n.126+16C=) c.1101+16C= (n.1101+16C=) n.260+16C= | |
3 | g.128481804G>C | CA1400714990 | GATA2 | c.1143+15C>G (n.1143+15C>G) c.1425+15C>G (n.1425+15C>G) c.126+15C>G (n.126+15C>G) c.1101+15C>G (n.1101+15C>G) n.260+15C>G | ClinVar dbSNP |
3 | g.128481804G= | CA1400714989 | GATA2 | c.1143+15C= (n.1143+15C=) c.1425+15C= (n.1425+15C=) c.126+15C= (n.126+15C=) c.1101+15C= (n.1101+15C=) n.260+15C= | |
3 | g.128481805C>A | CA2667540508 | GATA2 | c.1143+14G>T (n.1143+14G>T) c.1425+14G>T (n.1425+14G>T) c.126+14G>T (n.126+14G>T) c.1101+14G>T (n.1101+14G>T) n.260+14G>T | gnomAD v4 |
3 | g.128481805C= | CA1400714992 | GATA2 | c.1143+14G= (n.1143+14G=) c.1425+14G= (n.1425+14G=) c.126+14G= (n.126+14G=) c.1101+14G= (n.1101+14G=) n.260+14G= | |
3 | g.128481805C>G | CA2580068705 | GATA2 | c.1143+14G>C (n.1143+14G>C) c.1425+14G>C (n.1425+14G>C) c.126+14G>C (n.126+14G>C) c.1101+14G>C (n.1101+14G>C) n.260+14G>C | ClinVar |
3 | g.128481805C>T | CA435525511 | GATA2 | c.1143+14G>A (n.1143+14G>A) c.1425+14G>A (n.1425+14G>A) c.126+14G>A (n.126+14G>A) c.1101+14G>A (n.1101+14G>A) n.260+14G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481806G>A | CA2599856 | GATA2 | c.1143+13C>T (n.1143+13C>T) c.1425+13C>T (n.1425+13C>T) c.126+13C>T (n.126+13C>T) c.1101+13C>T (n.1101+13C>T) n.260+13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481806G>C | CA1400714998 | GATA2 | c.1143+13C>G (n.1143+13C>G) c.1425+13C>G (n.1425+13C>G) c.126+13C>G (n.126+13C>G) c.1101+13C>G (n.1101+13C>G) n.260+13C>G | dbSNP |
3 | g.128481806G= | CA1400714994 | GATA2 | c.1143+13C= (n.1143+13C=) c.1425+13C= (n.1425+13C=) c.126+13C= (n.126+13C=) c.1101+13C= (n.1101+13C=) n.260+13C= | |
3 | g.128481806G>T | CA2758339665 | GATA2 | c.1143+13C>A (n.1143+13C>A) c.1425+13C>A (n.1425+13C>A) c.126+13C>A (n.126+13C>A) c.1101+13C>A (n.1101+13C>A) n.260+13C>A | |
3 | g.128481807G>A | CA2599857 | GATA2 | c.1143+12C>T (n.1143+12C>T) c.1425+12C>T (n.1425+12C>T) c.126+12C>T (n.126+12C>T) c.1101+12C>T (n.1101+12C>T) n.260+12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481807G= | CA1400715002 | GATA2 | c.1143+12C= (n.1143+12C=) c.1425+12C= (n.1425+12C=) c.126+12C= (n.126+12C=) c.1101+12C= (n.1101+12C=) n.260+12C= | |
3 | g.128481807G>T | CA2577890715 | GATA2 | c.1143+12C>A (n.1143+12C>A) c.1425+12C>A (n.1425+12C>A) c.126+12C>A (n.126+12C>A) c.1101+12C>A (n.1101+12C>A) n.260+12C>A | gnomAD v4 |
3 | g.128481808G>A | CA2599858 | GATA2 | c.1143+11C>T (n.1143+11C>T) c.1425+11C>T (n.1425+11C>T) c.126+11C>T (n.126+11C>T) c.1101+11C>T (n.1101+11C>T) n.260+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481808G= | CA1400715005 | GATA2 | c.1143+11C= (n.1143+11C=) c.1425+11C= (n.1425+11C=) c.126+11C= (n.126+11C=) c.1101+11C= (n.1101+11C=) n.260+11C= | |
3 | g.128481808G>T | CA2599859 | GATA2 | c.1143+11C>A (n.1143+11C>A) c.1425+11C>A (n.1425+11C>A) c.126+11C>A (n.126+11C>A) c.1101+11C>A (n.1101+11C>A) n.260+11C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481809G= | CA1400715008 | GATA2 | c.1143+10C= (n.1143+10C=) c.1425+10C= (n.1425+10C=) c.126+10C= (n.126+10C=) c.1101+10C= (n.1101+10C=) n.260+10C= | |
3 | g.128481809G>T | CA2599860 | GATA2 | c.1143+10C>A (n.1143+10C>A) c.1425+10C>A (n.1425+10C>A) c.126+10C>A (n.126+10C>A) c.1101+10C>A (n.1101+10C>A) n.260+10C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481810C= | CA1400715011 | GATA2 | c.1143+9G= (n.1143+9G=) c.1425+9G= (n.1425+9G=) c.126+9G= (n.126+9G=) c.1101+9G= (n.1101+9G=) n.260+9G= | |
3 | g.128481810C>G | CA2577890716 | GATA2 | c.1143+9G>C (n.1143+9G>C) c.1425+9G>C (n.1425+9G>C) c.126+9G>C (n.126+9G>C) c.1101+9G>C (n.1101+9G>C) n.260+9G>C | |
3 | g.128481810C>T | CA2599861 | GATA2 | c.1143+9G>A (n.1143+9G>A) c.1425+9G>A (n.1425+9G>A) c.126+9G>A (n.126+9G>A) c.1101+9G>A (n.1101+9G>A) n.260+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481811G>A | CA2599862 | GATA2 | c.1143+8C>T (n.1143+8C>T) c.1425+8C>T (n.1425+8C>T) c.126+8C>T (n.126+8C>T) c.1101+8C>T (n.1101+8C>T) n.260+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481811G= | CA1400715015 | GATA2 | c.1143+8C= (n.1143+8C=) c.1425+8C= (n.1425+8C=) c.126+8C= (n.126+8C=) c.1101+8C= (n.1101+8C=) n.260+8C= | |
3 | g.128481812del | CA2580068706 | GATA2 | c.1143+7del (n.1143+7del) c.1425+7del (n.1425+7del) c.126+7del (n.126+7del) c.1101+7del (n.1101+7del) n.260+7del | ClinVar |
3 | g.128481812C>A | CA1400715020 | GATA2 | c.1143+7G>T (n.1143+7G>T) c.1425+7G>T (n.1425+7G>T) c.126+7G>T (n.126+7G>T) c.1101+7G>T (n.1101+7G>T) n.260+7G>T | dbSNP |
3 | g.128481812C= | CA1400715019 | GATA2 | c.1143+7G= (n.1143+7G=) c.1425+7G= (n.1425+7G=) c.126+7G= (n.126+7G=) c.1101+7G= (n.1101+7G=) n.260+7G= | |
3 | g.128481813A>G | CA2667540509 | GATA2 | c.1143+6T>C (n.1143+6T>C) c.1425+6T>C (n.1425+6T>C) c.126+6T>C (n.126+6T>C) c.1101+6T>C (n.1101+6T>C) n.260+6T>C | gnomAD v4 |
3 | g.128481814C>G | CA1139655019 | GATA2 | c.1143+5G>C (n.1143+5G>C) c.1425+5G>C (n.1425+5G>C) c.126+5G>C (n.126+5G>C) c.1101+5G>C (n.1101+5G>C) n.260+5G>C | ClinVar dbSNP |
3 | g.128481814C>T | CA1139655018 | GATA2 | c.1143+5G>A (n.1143+5G>A) c.1425+5G>A (n.1425+5G>A) c.126+5G>A (n.126+5G>A) c.1101+5G>A (n.1101+5G>A) n.260+5G>A | ClinVar dbSNP |
3 | g.128481816C>T | CA2667540510 | GATA2 | c.1143+3G>A (n.1143+3G>A) c.1425+3G>A (n.1425+3G>A) c.126+3G>A (n.126+3G>A) c.1101+3G>A (n.1101+3G>A) n.260+3G>A | ClinVar gnomAD v4 |
3 | g.128481817A>C | CA354413438 | GATA2 | c.1143+2T>G (n.1143+2T>G) c.1425+2T>G (n.1425+2T>G) c.126+2T>G (n.126+2T>G) c.1101+2T>G (n.1101+2T>G) n.260+2T>G | |
3 | g.128481817A>G | CA354413439 | GATA2 | c.1143+2T>C (n.1143+2T>C) c.1425+2T>C (n.1425+2T>C) c.126+2T>C (n.126+2T>C) c.1101+2T>C (n.1101+2T>C) n.260+2T>C | |
3 | g.128481817A>T | CA354413440 | GATA2 | c.1143+2T>A (n.1143+2T>A) c.1425+2T>A (n.1425+2T>A) c.126+2T>A (n.126+2T>A) c.1101+2T>A (n.1101+2T>A) n.260+2T>A | ClinVar dbSNP |
3 | g.128481817dup | CA2580068707 | GATA2 | c.1143+2dup (n.1143+2dup) c.1425+2dup (n.1425+2dup) c.126+2dup (n.126+2dup) c.1101+2dup (n.1101+2dup) n.260+2dup | ClinVar |
3 | g.128481818C>A | CA354413441 | GATA2 | c.1143+1G>T (n.1143+1G>T) c.1425+1G>T (n.1425+1G>T) c.126+1G>T (n.126+1G>T) c.1101+1G>T (n.1101+1G>T) n.260+1G>T | |
3 | g.128481818C>G | CA354413442 | GATA2 | c.1143+1G>C (n.1143+1G>C) c.1425+1G>C (n.1425+1G>C) c.126+1G>C (n.126+1G>C) c.1101+1G>C (n.1101+1G>C) n.260+1G>C | |
3 | g.128481818C>T | CA354413443 | GATA2 | c.1143+1G>A (n.1143+1G>A) c.1425+1G>A (n.1425+1G>A) c.126+1G>A (n.126+1G>A) c.1101+1G>A (n.1101+1G>A) n.260+1G>A | |
3 | g.128481819A= | CA1400715023 | GATA2 | c.1143T= (p.Asn381=) c.1425T= (p.Asn475=) c.126T= (p.Asn42=) c.1101T= (p.Asn367=) n.260T= | |
3 | g.128481819A>C | CA354413444 | GATA2 | c.1143T>G (p.Asn381Lys) c.1425T>G (p.Asn475Lys) c.126T>G (p.Asn42Lys) c.1101T>G (p.Asn367Lys) n.260T>G | |
3 | g.128481819A>G | CA435525512 | GATA2 | c.1143T>C (p.Asn381=) c.1425T>C (p.Asn475=) c.126T>C (p.Asn42=) c.1101T>C (p.Asn367=) n.260T>C | ClinVar dbSNP gnomAD v4 |
3 | g.128481819A>T | CA354413445 | GATA2 | c.1143T>A (p.Asn381Lys) c.1425T>A (p.Asn475Lys) c.126T>A (p.Asn42Lys) c.1101T>A (p.Asn367Lys) n.260T>A | |
3 | g.128481820T>A | CA354413446 | GATA2 | c.1142A>T (p.Asn381Ile) c.1424A>T (p.Asn475Ile) c.125A>T (p.Asn42Ile) c.1100A>T (p.Asn367Ile) n.259A>T | |
3 | g.128481820T>C | CA354413448 | GATA2 | c.1142A>G (p.Asn381Ser) c.1424A>G (p.Asn475Ser) c.125A>G (p.Asn42Ser) c.1100A>G (p.Asn367Ser) n.259A>G | dbSNP |
3 | g.128481820T>G | CA354413447 | GATA2 | c.1142A>C (p.Asn381Thr) c.1424A>C (p.Asn475Thr) c.125A>C (p.Asn42Thr) c.1100A>C (p.Asn367Thr) n.259A>C | |
3 | g.128481820T= | CA1400715026 | GATA2 | c.1142A= (p.Asn381=) c.1424A= (p.Asn475=) c.125A= (p.Asn42=) c.1100A= (p.Asn367=) n.259A= | |
3 | g.128481821del | CA2499216428 | GATA2 | c.1142del (p.Asn381MetfsTer6) c.1424del (p.Asn475MetfsTer6) c.125del (p.Asn42MetfsTer?) c.1100del (p.Asn367MetfsTer6) n.259del | ClinVar dbSNP |
3 | g.128481821T>A | CA354413449 | GATA2 | c.1141A>T (p.Asn381Tyr) c.1423A>T (p.Asn475Tyr) c.124A>T (p.Asn42Tyr) c.1099A>T (p.Asn367Tyr) n.258A>T | |
3 | g.128481821T>C | CA354413451 | GATA2 | c.1141A>G (p.Asn381Asp) c.1423A>G (p.Asn475Asp) c.124A>G (p.Asn42Asp) c.1099A>G (p.Asn367Asp) n.258A>G | ClinVar |
3 | g.128481821T>G | CA354413450 | GATA2 | c.1141A>C (p.Asn381His) c.1423A>C (p.Asn475His) c.124A>C (p.Asn42His) c.1099A>C (p.Asn367His) n.258A>C | |
3 | g.128481822G>A | CA435525514 | GATA2 | c.1140C>T (p.His380=) c.1422C>T (p.His474=) c.123C>T (p.His41=) c.1098C>T (p.His366=) n.257C>T | ClinVar dbSNP |
3 | g.128481822G>C | CA354413452 | GATA2 | c.1140C>G (p.His380Gln) c.1422C>G (p.His474Gln) c.123C>G (p.His41Gln) c.1098C>G (p.His366Gln) n.257C>G | |
3 | g.128481822G>T | CA354413453 | GATA2 | c.1140C>A (p.His380Gln) c.1422C>A (p.His474Gln) c.123C>A (p.His41Gln) c.1098C>A (p.His366Gln) n.257C>A | |
3 | g.128481823T>A | CA354413454 | GATA2 | c.1139A>T (p.His380Leu) c.1421A>T (p.His474Leu) c.122A>T (p.His41Leu) c.1097A>T (p.His366Leu) n.256A>T | |
3 | g.128481823T>C | CA354413455 | GATA2 | c.1139A>G (p.His380Arg) c.1421A>G (p.His474Arg) c.122A>G (p.His41Arg) c.1097A>G (p.His366Arg) n.256A>G | |
3 | g.128481823T>G | CA354413456 | GATA2 | c.1139A>C (p.His380Pro) c.1421A>C (p.His474Pro) c.122A>C (p.His41Pro) c.1097A>C (p.His366Pro) n.256A>C | |
3 | g.128481824G>A | CA354413457 | GATA2 | c.1138C>T (p.His380Tyr) c.1420C>T (p.His474Tyr) c.121C>T (p.His41Tyr) c.1096C>T (p.His366Tyr) n.255C>T | |
3 | g.128481824G>C | CA354413458 | GATA2 | c.1138C>G (p.His380Asp) c.1420C>G (p.His474Asp) c.121C>G (p.His41Asp) c.1096C>G (p.His366Asp) n.255C>G | |
3 | g.128481824G>T | CA354413459 | GATA2 | c.1138C>A (p.His380Asn) c.1420C>A (p.His474Asn) c.121C>A (p.His41Asn) c.1096C>A (p.His366Asn) n.255C>A | |
3 | g.128481825C>A | CA435525515 | GATA2 | c.1137G>T (p.Leu379=) c.1419G>T (p.Leu473=) c.120G>T (p.Leu40=) c.1095G>T (p.Leu365=) n.254G>T | |
3 | g.128481825C= | CA1400715030 | GATA2 | c.1137G= (p.Leu379=) c.1419G= (p.Leu473=) c.120G= (p.Leu40=) c.1095G= (p.Leu365=) n.254G= | |
3 | g.128481825C>G | CA435525516 | GATA2 | c.1137G>C (p.Leu379=) c.1419G>C (p.Leu473=) c.120G>C (p.Leu40=) c.1095G>C (p.Leu365=) n.254G>C | |
3 | g.128481825C>T | CA2599863 | GATA2 | c.1137G>A (p.Leu379=) c.1419G>A (p.Leu473=) c.120G>A (p.Leu40=) c.1095G>A (p.Leu365=) n.254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481826del | CA915940965 | GATA2 | c.1136del (p.Leu379ArgfsTer8) c.1418del (p.Leu473ArgfsTer8) c.119del (p.Leu40ArgfsTer?) c.1094del (p.Leu365ArgfsTer8) n.253del | |
3 | g.128481826A= | CA1400715034 | GATA2 | c.1136T= (p.Leu379=) c.1418T= (p.Leu473=) c.119T= (p.Leu40=) c.1094T= (p.Leu365=) n.253T= | |
3 | g.128481826A>C | CA354413460 | GATA2 | c.1136T>G (p.Leu379Arg) c.1418T>G (p.Leu473Arg) c.119T>G (p.Leu40Arg) c.1094T>G (p.Leu365Arg) n.253T>G | |
3 | g.128481826A>G | CA354413461 | GATA2 | c.1136T>C (p.Leu379Pro) c.1418T>C (p.Leu473Pro) c.119T>C (p.Leu40Pro) c.1094T>C (p.Leu365Pro) n.253T>C | |
3 | g.128481826A>T | CA2599864 | GATA2 | c.1136T>A (p.Leu379Gln) c.1418T>A (p.Leu473Gln) c.119T>A (p.Leu40Gln) c.1094T>A (p.Leu365Gln) n.253T>A | dbSNP ExAC gnomAD v2 COSMIC |
3 | g.128481827G>A | CA435525517 | GATA2 | c.1135C>T (p.Leu379=) c.1417C>T (p.Leu473=) c.118C>T (p.Leu40=) c.1093C>T (p.Leu365=) n.252C>T | |
3 | g.128481827G>C | CA354413462 | GATA2 | c.1135C>G (p.Leu379Val) c.1417C>G (p.Leu473Val) c.118C>G (p.Leu40Val) c.1093C>G (p.Leu365Val) n.252C>G | |
3 | g.128481827G>T | CA354413463 | GATA2 | c.1135C>A (p.Leu379Met) c.1417C>A (p.Leu473Met) c.118C>A (p.Leu40Met) c.1093C>A (p.Leu365Met) n.252C>A | |
3 | g.128481827_128481853dup | CA2667540511 | GATA2 | c.1109_1135dup (p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys) c.1391_1417dup (p.Lys472_Leu473insArgAsnAlaCysGlyLeuTyrTyrLys) c.92_118dup (p.Lys39_Leu40insArgAsnAlaCysGlyLeuTyrTyrLys) c.1067_1093dup (p.Lys364_Leu365insArgAsnAlaCysGlyLeuTyrTyrLys) n.226_252dup | gnomAD v4 |
3 | g.128481828C>A | CA354413464 | GATA2 | c.1134G>T (p.Lys378Asn) c.1416G>T (p.Lys472Asn) c.117G>T (p.Lys39Asn) c.1092G>T (p.Lys364Asn) n.251G>T | |
3 | g.128481828C= | CA1400715038 | GATA2 | c.1134G= (p.Lys378=) c.1416G= (p.Lys472=) c.117G= (p.Lys39=) c.1092G= (p.Lys364=) n.251G= | |
3 | g.128481828C>G | CA354413465 | GATA2 | c.1134G>C (p.Lys378Asn) c.1416G>C (p.Lys472Asn) c.117G>C (p.Lys39Asn) c.1092G>C (p.Lys364Asn) n.251G>C | |
3 | g.128481828C>T | CA435525518 | GATA2 | c.1134G>A (p.Lys378=) c.1416G>A (p.Lys472=) c.117G>A (p.Lys39=) c.1092G>A (p.Lys364=) n.251G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128481829T>A | CA354413466 | GATA2 | c.1133A>T (p.Lys378Met) c.1415A>T (p.Lys472Met) c.116A>T (p.Lys39Met) c.1091A>T (p.Lys364Met) n.250A>T | |
3 | g.128481829T>C | CA354413467 | GATA2 | c.1133A>G (p.Lys378Arg) c.1415A>G (p.Lys472Arg) c.116A>G (p.Lys39Arg) c.1091A>G (p.Lys364Arg) n.250A>G | |
3 | g.128481829T>G | CA354413468 | GATA2 | c.1133A>C (p.Lys378Thr) c.1415A>C (p.Lys472Thr) c.116A>C (p.Lys39Thr) c.1091A>C (p.Lys364Thr) n.250A>C | |
3 | g.128481829_128481836dup | CA1139771361 | GATA2 | c.1126_1133dup (p.Lys378AsnfsTer12) c.1408_1415dup (p.Lys472AsnfsTer12) c.109_116dup (p.Lys39AsnfsTer?) c.1084_1091dup (p.Lys364AsnfsTer12) n.243_250dup | ClinVar dbSNP |
3 | g.128481830T>A | CA354413469 | GATA2 | c.1132A>T (p.Lys378Ter) c.1414A>T (p.Lys472Ter) c.115A>T (p.Lys39Ter) c.1090A>T (p.Lys364Ter) n.249A>T | ClinVar dbSNP |
3 | g.128481830T>C | CA354413470 | GATA2 | c.1132A>G (p.Lys378Glu) c.1414A>G (p.Lys472Glu) c.115A>G (p.Lys39Glu) c.1090A>G (p.Lys364Glu) n.249A>G | |
3 | g.128481830T>G | CA354413471 | GATA2 | c.1132A>C (p.Lys378Gln) c.1414A>C (p.Lys472Gln) c.115A>C (p.Lys39Gln) c.1090A>C (p.Lys364Gln) n.249A>C | |
3 | g.128481831G>A | CA435525521 | GATA2 | c.1131C>T (p.Tyr377=) c.1413C>T (p.Tyr471=) c.114C>T (p.Tyr38=) c.1089C>T (p.Tyr363=) n.248C>T | |
3 | g.128481831G>C | CA354413472 | GATA2 | c.1131C>G (p.Tyr377Ter) c.1413C>G (p.Tyr471Ter) c.114C>G (p.Tyr38Ter) c.1089C>G (p.Tyr363Ter) n.248C>G | |
3 | g.128481831G>T | CA354413473 | GATA2 | c.1131C>A (p.Tyr377Ter) c.1413C>A (p.Tyr471Ter) c.114C>A (p.Tyr38Ter) c.1089C>A (p.Tyr363Ter) n.248C>A | |
3 | g.128481835_128481837del | CA2577890722 | GATA2 | c.1129_1131del (p.Tyr377del) c.1411_1413del (p.Tyr471del) c.112_114del (p.Tyr38del) c.1087_1089del (p.Tyr363del) n.246_248del | |
3 | g.128481832_128481846del | CA2499216429 | GATA2 | c.1117_1131del (p.Cys373_Tyr377del) c.1399_1413del (p.Cys467_Tyr471del) c.100_114del (p.Cys34_Tyr38del) c.1075_1089del (p.Cys359_Tyr363del) n.234_248del | ClinVar dbSNP |
3 | g.128481832T>A | CA354413475 | GATA2 | c.1130A>T (p.Tyr377Phe) c.1412A>T (p.Tyr471Phe) c.113A>T (p.Tyr38Phe) c.1088A>T (p.Tyr363Phe) n.247A>T | |
3 | g.128481832T>C | CA354413476 | GATA2 | c.1130A>G (p.Tyr377Cys) c.1412A>G (p.Tyr471Cys) c.113A>G (p.Tyr38Cys) c.1088A>G (p.Tyr363Cys) n.247A>G | |
3 | g.128481832T>G | CA354413474 | GATA2 | c.1130A>C (p.Tyr377Ser) c.1412A>C (p.Tyr471Ser) c.113A>C (p.Tyr38Ser) c.1088A>C (p.Tyr363Ser) n.247A>C | |
3 | g.128481833A>C | CA354413477 | GATA2 | c.1129T>G (p.Tyr377Asp) c.1411T>G (p.Tyr471Asp) c.112T>G (p.Tyr38Asp) c.1087T>G (p.Tyr363Asp) n.246T>G | ClinVar dbSNP |
3 | g.128481833A>G | CA354413478 | GATA2 | c.1129T>C (p.Tyr377His) c.1411T>C (p.Tyr471His) c.112T>C (p.Tyr38His) c.1087T>C (p.Tyr363His) n.246T>C | gnomAD v4 |
3 | g.128481833A>T | CA354413479 | GATA2 | c.1129T>A (p.Tyr377Asn) c.1411T>A (p.Tyr471Asn) c.112T>A (p.Tyr38Asn) c.1087T>A (p.Tyr363Asn) n.246T>A | |
3 | g.128481834G>A | CA2599865 | GATA2 | c.1128C>T (p.Tyr376=) c.1410C>T (p.Tyr470=) c.111C>T (p.Tyr37=) c.1086C>T (p.Tyr362=) n.245C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481834G>C | CA354413480 | GATA2 | c.1128C>G (p.Tyr376Ter) c.1410C>G (p.Tyr470Ter) c.111C>G (p.Tyr37Ter) c.1086C>G (p.Tyr362Ter) n.245C>G | ClinVar dbSNP |
3 | g.128481834G= | CA1400715043 | GATA2 | c.1128C= (p.Tyr376=) c.1410C= (p.Tyr470=) c.111C= (p.Tyr37=) c.1086C= (p.Tyr362=) n.245C= | |
3 | g.128481834G>T | CA354413481 | GATA2 | c.1128C>A (p.Tyr376Ter) c.1410C>A (p.Tyr470Ter) c.111C>A (p.Tyr37Ter) c.1086C>A (p.Tyr362Ter) n.245C>A | ClinVar dbSNP |
3 | g.128481835T>A | CA354413482 | GATA2 | c.1127A>T (p.Tyr376Phe) c.1409A>T (p.Tyr470Phe) c.110A>T (p.Tyr37Phe) c.1085A>T (p.Tyr362Phe) n.244A>T | |
3 | g.128481835T>C | CA354413483 | GATA2 | c.1127A>G (p.Tyr376Cys) c.1409A>G (p.Tyr470Cys) c.110A>G (p.Tyr37Cys) c.1085A>G (p.Tyr362Cys) n.244A>G | |
3 | g.128481835T>G | CA354413484 | GATA2 | c.1127A>C (p.Tyr376Ser) c.1409A>C (p.Tyr470Ser) c.110A>C (p.Tyr37Ser) c.1085A>C (p.Tyr362Ser) n.244A>C | |
3 | g.128481836A= | CA1400715048 | GATA2 | c.1126T= (p.Tyr376=) c.1408T= (p.Tyr470=) c.109T= (p.Tyr37=) c.1084T= (p.Tyr362=) n.243T= | |
3 | g.128481836A>C | CA354413485 | GATA2 | c.1126T>G (p.Tyr376Asp) c.1408T>G (p.Tyr470Asp) c.109T>G (p.Tyr37Asp) c.1084T>G (p.Tyr362Asp) n.243T>G | |
3 | g.128481836A>G | CA354413486 | GATA2 | c.1126T>C (p.Tyr376His) c.1408T>C (p.Tyr470His) c.109T>C (p.Tyr37His) c.1084T>C (p.Tyr362His) n.243T>C | |
3 | g.128481836A>T | CA354413487 | GATA2 | c.1126T>A (p.Tyr376Asn) c.1408T>A (p.Tyr470Asn) c.109T>A (p.Tyr37Asn) c.1084T>A (p.Tyr362Asn) n.243T>A | |
3 | g.128481837G>A | CA435525524 | GATA2 | c.1125C>T (p.Leu375=) c.1407C>T (p.Leu469=) c.108C>T (p.Leu36=) c.1083C>T (p.Leu361=) n.242C>T | COSMIC |
3 | g.128481837G>C | CA435525525 | GATA2 | c.1125C>G (p.Leu375=) c.1407C>G (p.Leu469=) c.108C>G (p.Leu36=) c.1083C>G (p.Leu361=) n.242C>G | ClinVar |
3 | g.128481837G>T | CA435525526 | GATA2 | c.1125C>A (p.Leu375=) c.1407C>A (p.Leu469=) c.108C>A (p.Leu36=) c.1083C>A (p.Leu361=) n.242C>A | |
3 | g.128481837_128481840dup | CA279032 | GATA2 | c.1122_1125dup (p.Tyr376ProfsTer9) c.1404_1407dup (p.Tyr470ProfsTer9) c.105_108dup (p.Tyr37ProfsTer10) c.1080_1083dup (p.Tyr362ProfsTer9) n.239_242dup | ClinVar dbSNP |
3 | g.128481838del | CA2499216430 | GATA2 | c.1124del (p.Leu375ProfsTer12) c.1406del (p.Leu469ProfsTer12) c.107del (p.Leu36ProfsTer?) c.1082del (p.Leu361ProfsTer12) n.241del | ClinVar dbSNP |
3 | g.128481838A>C | CA354413488 | GATA2 | c.1124T>G (p.Leu375Arg) c.1406T>G (p.Leu469Arg) c.107T>G (p.Leu36Arg) c.1082T>G (p.Leu361Arg) n.241T>G | |
3 | g.128481838A>G | CA354413489 | GATA2 | c.1124T>C (p.Leu375Pro) c.1406T>C (p.Leu469Pro) c.107T>C (p.Leu36Pro) c.1082T>C (p.Leu361Pro) n.241T>C | |
3 | g.128481838A>T | CA354413490 | GATA2 | c.1124T>A (p.Leu375His) c.1406T>A (p.Leu469His) c.107T>A (p.Leu36His) c.1082T>A (p.Leu361His) n.241T>A | |
3 | g.128481839G>A | CA354413491 | GATA2 | c.1123C>T (p.Leu375Phe) c.1405C>T (p.Leu469Phe) c.106C>T (p.Leu36Phe) c.1081C>T (p.Leu361Phe) n.240C>T | ClinVar dbSNP |
3 | g.128481839G>C | CA354413492 | GATA2 | c.1123C>G (p.Leu375Val) c.1405C>G (p.Leu469Val) c.106C>G (p.Leu36Val) c.1081C>G (p.Leu361Val) n.240C>G | ClinVar dbSNP |
3 | g.128481839G>T | CA354413493 | GATA2 | c.1123C>A (p.Leu375Ile) c.1405C>A (p.Leu469Ile) c.106C>A (p.Leu36Ile) c.1081C>A (p.Leu361Ile) n.240C>A | COSMIC |
3 | g.128481840G>A | CA83376533 | GATA2 | c.1122C>T (p.Gly374=) c.1404C>T (p.Gly468=) c.105C>T (p.Gly35=) c.1080C>T (p.Gly360=) n.239C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481840G>C | CA435525529 | GATA2 | c.1122C>G (p.Gly374=) c.1404C>G (p.Gly468=) c.105C>G (p.Gly35=) c.1080C>G (p.Gly360=) n.239C>G | |
3 | g.128481840G= | CA1400715056 | GATA2 | c.1122C= (p.Gly374=) c.1404C= (p.Gly468=) c.105C= (p.Gly35=) c.1080C= (p.Gly360=) n.239C= | |
3 | g.128481840G>T | CA435525530 | GATA2 | c.1122C>A (p.Gly374=) c.1404C>A (p.Gly468=) c.105C>A (p.Gly35=) c.1080C>A (p.Gly360=) n.239C>A | |
3 | g.128481841C>A | CA354413494 | GATA2 | c.1121G>T (p.Gly374Val) c.1403G>T (p.Gly468Val) c.104G>T (p.Gly35Val) c.1079G>T (p.Gly360Val) n.238G>T | |
3 | g.128481841C= | CA1400715060 | GATA2 | c.1121G= (p.Gly374=) c.1403G= (p.Gly468=) c.104G= (p.Gly35=) c.1079G= (p.Gly360=) n.238G= | |
3 | g.128481841C>G | CA354413495 | GATA2 | c.1121G>C (p.Gly374Ala) c.1403G>C (p.Gly468Ala) c.104G>C (p.Gly35Ala) c.1079G>C (p.Gly360Ala) n.238G>C | |
3 | g.128481841C>T | CA354413496 | GATA2 | c.1121G>A (p.Gly374Asp) c.1403G>A (p.Gly468Asp) c.104G>A (p.Gly35Asp) c.1079G>A (p.Gly360Asp) n.238G>A | ClinVar dbSNP |
3 | g.128481842C>A | CA354413497 | GATA2 | c.1120G>T (p.Gly374Cys) c.1402G>T (p.Gly468Cys) c.103G>T (p.Gly35Cys) c.1078G>T (p.Gly360Cys) n.237G>T | |
3 | g.128481842C>G | CA354413498 | GATA2 | c.1120G>C (p.Gly374Arg) c.1402G>C (p.Gly468Arg) c.103G>C (p.Gly35Arg) c.1078G>C (p.Gly360Arg) n.237G>C | |
3 | g.128481842C>T | CA354413499 | GATA2 | c.1120G>A (p.Gly374Ser) c.1402G>A (p.Gly468Ser) c.103G>A (p.Gly35Ser) c.1078G>A (p.Gly360Ser) n.237G>A | |
3 | g.128481843A= | CA1400715062 | GATA2 | c.1119T= (p.Cys373=) c.1401T= (p.Cys467=) c.102T= (p.Cys34=) c.1077T= (p.Cys359=) n.236T= | |
3 | g.128481843A>C | CA354413500 | GATA2 | c.1119T>G (p.Cys373Trp) c.1401T>G (p.Cys467Trp) c.102T>G (p.Cys34Trp) c.1077T>G (p.Cys359Trp) n.236T>G | |
3 | g.128481843A>G | CA435525531 | GATA2 | c.1119T>C (p.Cys373=) c.1401T>C (p.Cys467=) c.102T>C (p.Cys34=) c.1077T>C (p.Cys359=) n.236T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481843A>T | CA354413501 | GATA2 | c.1119T>A (p.Cys373Ter) c.1401T>A (p.Cys467Ter) c.102T>A (p.Cys34Ter) c.1077T>A (p.Cys359Ter) n.236T>A | |
3 | g.128481843dup | CA2759522112 | GATA2 | c.1119dup (p.Gly374TrpfsTer10) c.1401dup (p.Gly468TrpfsTer10) c.102dup (p.Gly35TrpfsTer11) c.1077dup (p.Gly360TrpfsTer10) n.236dup | |
3 | g.128481843_128481845delinsCCC | CA2586965857 | GATA2 | c.1117_1119delinsGGG (p.Cys373Gly) c.1399_1401delinsGGG (p.Cys467Gly) c.100_102delinsGGG (p.Cys34Gly) c.1075_1077delinsGGG (p.Cys359Gly) n.234_236delinsGGG | |
3 | g.128481844C>A | CA354413503 | GATA2 | c.1118G>T (p.Cys373Phe) c.1400G>T (p.Cys467Phe) c.101G>T (p.Cys34Phe) c.1076G>T (p.Cys359Phe) n.235G>T | |
3 | g.128481844C>G | CA354413504 | GATA2 | c.1118G>C (p.Cys373Ser) c.1400G>C (p.Cys467Ser) c.101G>C (p.Cys34Ser) c.1076G>C (p.Cys359Ser) n.235G>C | |
3 | g.128481844C>T | CA354413502 | GATA2 | c.1118G>A (p.Cys373Tyr) c.1400G>A (p.Cys467Tyr) c.101G>A (p.Cys34Tyr) c.1076G>A (p.Cys359Tyr) n.235G>A | ClinVar dbSNP |
3 | g.128481844dup | CA2759522111 | GATA2 | c.1118dup (p.Cys373TrpfsTer11) c.1400dup (p.Cys467TrpfsTer11) c.101dup (p.Cys34TrpfsTer12) c.1076dup (p.Cys359TrpfsTer11) n.235dup | |
3 | g.128481845A= | CA1400715068 | GATA2 | c.1117T= (p.Cys373=) c.1399T= (p.Cys467=) c.100T= (p.Cys34=) c.1075T= (p.Cys359=) n.234T= | |
3 | g.128481845A>C | CA354413505 | GATA2 | c.1117T>G (p.Cys373Gly) c.1399T>G (p.Cys467Gly) c.100T>G (p.Cys34Gly) c.1075T>G (p.Cys359Gly) n.234T>G | |
3 | g.128481845A>G | CA128589 | GATA2 | c.1117T>C (p.Cys373Arg) c.1399T>C (p.Cys467Arg) c.100T>C (p.Cys34Arg) c.1075T>C (p.Cys359Arg) n.234T>C | ClinVar dbSNP |
3 | g.128481845A>T | CA354413506 | GATA2 | c.1117T>A (p.Cys373Ser) c.1399T>A (p.Cys467Ser) c.100T>A (p.Cys34Ser) c.1075T>A (p.Cys359Ser) n.234T>A | |
3 | g.128481845dup | CA2759522110 | GATA2 | c.1117dup (p.Cys373LeufsTer11) c.1399dup (p.Cys467LeufsTer11) c.100dup (p.Cys34LeufsTer12) c.1075dup (p.Cys359LeufsTer11) n.234dup | |
3 | g.128481845_128482000delinsGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239087 | GATA2 | c.1018-56_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1300-56_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1018-98_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC n.79_234delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC | |
3 | g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239779 | GATA2 | c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1300-401_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | |
3 | g.128481845_128483001delinsCCCTGCCCCCGCGGCTGCAGTCCCTCTGTCCCTTCTGTGACCAGGCTTGGGCCTGGGGCTGTTCCAGGCTCTGCAGGCCTCAGCCCCCAGCCCCCCACACTCACCACCTGGTGCACTCCCGCCTGCAGTTCTCTGGGAAGTGTTGGGGGACCCCCTCTGTCACTGTGGGGCTGGCGTTGGTGGAACCGGGAGAGGGGATCTGTTTTCTTGGGTAAAGCCTCCCTCTAGCTTCTCTCTGCAAGGACCAGGCGCTCATTTCCAGACCCTACCTCTGCCAGGCATTTCCTGAGGGACTAGGACTCAGAGGGGCTGCGGGGTGGTTAAAGCTCTAAGGGTTGGGGTATGGGGGGCTGGATGGGGGGGATCAGCACTCACATCAGCTGGAGAGATGGAAAAGTTCTGTGTCTGCACTGCCCACTGTGGTAGCCCCTGGCCACATGTGAATATTGATCACTTGAAATGTGGCTCGTGCAATTGAGGGAACTGGGTTTTTAATTTTGTTAATTTGTAGTTAGATCTTATTTAAATGGCTGCCTGTGGCCAGCTGCTACAGTGTTGGACGGTGCAGCTCTGCACTCTGTAAACCTGCGCTGGCCTCAGCGACACTGACTCACCCAGGATTATGGATTTTGAGCGGAGTCGTGCTAGAGGAGACACAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239089 | GATA2 | c.1017+859_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1299+859_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1017+859_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG | |
3 | g.128481845_128484000dup | CA2695239090 | GATA2 | c.877_1117dup c.1159_1399dup c.877_1075dup | |
3 | g.128481846G>A | CA435525535 | GATA2 | c.1116C>T (p.Ala372=) c.1398C>T (p.Ala466=) c.99C>T (p.Ala33=) c.1074C>T (p.Ala358=) n.233C>T | ClinVar dbSNP gnomAD v4 |
3 | g.128481846G>C | CA435525536 | GATA2 | c.1116C>G (p.Ala372=) c.1398C>G (p.Ala466=) c.99C>G (p.Ala33=) c.1074C>G (p.Ala358=) n.233C>G | |
3 | g.128481846G>T | CA435525537 | GATA2 | c.1116C>A (p.Ala372=) c.1398C>A (p.Ala466=) c.99C>A (p.Ala33=) c.1074C>A (p.Ala358=) n.233C>A | |
3 | g.128481847dup | CA2759522107 | GATA2 | c.1116dup (p.Cys373LeufsTer11) c.1398dup (p.Cys467LeufsTer11) c.99dup (p.Cys34LeufsTer12) c.1074dup (p.Cys359LeufsTer11) n.233dup | |
3 | g.128481847G>A | CA354413507 | GATA2 | c.1115C>T (p.Ala372Val) c.1397C>T (p.Ala466Val) c.98C>T (p.Ala33Val) c.1073C>T (p.Ala358Val) n.232C>T | COSMIC |
3 | g.128481847G>C | CA354413508 | GATA2 | c.1115C>G (p.Ala372Gly) c.1397C>G (p.Ala466Gly) c.98C>G (p.Ala33Gly) c.1073C>G (p.Ala358Gly) n.232C>G | |
3 | g.128481847G>T | CA354413509 | GATA2 | c.1115C>A (p.Ala372Asp) c.1397C>A (p.Ala466Asp) c.98C>A (p.Ala33Asp) c.1073C>A (p.Ala358Asp) n.232C>A | |
3 | g.128481848C>A | CA354413510 | GATA2 | c.1114G>T (p.Ala372Ser) c.1396G>T (p.Ala466Ser) c.97G>T (p.Ala33Ser) c.1072G>T (p.Ala358Ser) n.231G>T | gnomAD v4 |
3 | g.128481848C= | CA1400715074 | GATA2 | c.1114G= (p.Ala372=) c.1396G= (p.Ala466=) c.97G= (p.Ala33=) c.1072G= (p.Ala358=) n.231G= | |
3 | g.128481848C>G | CA83376538 | GATA2 | c.1114G>C (p.Ala372Pro) c.1396G>C (p.Ala466Pro) c.97G>C (p.Ala33Pro) c.1072G>C (p.Ala358Pro) n.231G>C | dbSNP |
3 | g.128481848C>T | CA354413511 | GATA2 | c.1114G>A (p.Ala372Thr) c.1396G>A (p.Ala466Thr) c.97G>A (p.Ala33Thr) c.1072G>A (p.Ala358Thr) n.231G>A | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128481848dup | CA2759522106 | GATA2 | c.1114dup (p.Ala372GlyfsTer12) c.1396dup (p.Ala466GlyfsTer12) c.97dup (p.Ala33GlyfsTer13) c.1072dup (p.Ala358GlyfsTer12) n.231dup | |
3 | g.128481849del | CA2499216431 | GATA2 | c.1113del (p.Asn371LysfsTer16) c.1395del (p.Asn465LysfsTer16) c.96del (p.Asn32LysfsTer?) c.1071del (p.Asn357LysfsTer16) n.230del | ClinVar dbSNP |
3 | g.128481849G>A | CA2599866 | GATA2 | c.1113C>T (p.Asn371=) c.1395C>T (p.Asn465=) c.96C>T (p.Asn32=) c.1071C>T (p.Asn357=) n.230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128481849G>C | CA354413512 | GATA2 | c.1113C>G (p.Asn371Lys) c.1395C>G (p.Asn465Lys) c.96C>G (p.Asn32Lys) c.1071C>G (p.Asn357Lys) n.230C>G | ClinVar dbSNP |
3 | g.128481849G= | CA1400715088 | GATA2 | c.1113C= (p.Asn371=) c.1395C= (p.Asn465=) c.96C= (p.Asn32=) c.1071C= (p.Asn357=) n.230C= | |
3 | g.128481849G>T | CA210024 | GATA2 | c.1113C>A (p.Asn371Lys) c.1395C>A (p.Asn465Lys) c.96C>A (p.Asn32Lys) c.1071C>A (p.Asn357Lys) n.230C>A | ClinVar dbSNP |
3 | g.128481849dup | CA2580610854 | GATA2 | c.1113dup (p.Ala372ArgfsTer12) c.1395dup (p.Ala466ArgfsTer12) c.96dup (p.Ala33ArgfsTer13) c.1071dup (p.Ala358ArgfsTer12) n.230dup | |
3 | g.128481850T>A | CA354413513 | GATA2 | c.1112A>T (p.Asn371Ile) c.1394A>T (p.Asn465Ile) c.95A>T (p.Asn32Ile) c.1070A>T (p.Asn357Ile) n.229A>T | |
3 | g.128481850T>C | CA354413514 | GATA2 | c.1112A>G (p.Asn371Ser) c.1394A>G (p.Asn465Ser) c.95A>G (p.Asn32Ser) c.1070A>G (p.Asn357Ser) n.229A>G | |
3 | g.128481850T>G | CA354413515 | GATA2 | c.1112A>C (p.Asn371Thr) c.1394A>C (p.Asn465Thr) c.95A>C (p.Asn32Thr) c.1070A>C (p.Asn357Thr) n.229A>C | |
3 | g.128481851T>A | CA354413518 | GATA2 | c.1111A>T (p.Asn371Tyr) c.1393A>T (p.Asn465Tyr) c.94A>T (p.Asn32Tyr) c.1069A>T (p.Asn357Tyr) n.228A>T | |
3 | g.128481851T>C | CA354413516 | GATA2 | c.1111A>G (p.Asn371Asp) c.1393A>G (p.Asn465Asp) c.94A>G (p.Asn32Asp) c.1069A>G (p.Asn357Asp) n.228A>G | |
3 | g.128481851T>G | CA354413517 | GATA2 | c.1111A>C (p.Asn371His) c.1393A>C (p.Asn465His) c.94A>C (p.Asn32His) c.1069A>C (p.Asn357His) n.228A>C | |
3 | g.128481852G>A | CA435525541 | GATA2 | c.1110C>T (p.Cys370=) c.1392C>T (p.Cys464=) c.93C>T (p.Cys31=) c.1068C>T (p.Cys356=) n.227C>T | |
3 | g.128481852G>C | CA354413519 | GATA2 | c.1110C>G (p.Cys370Trp) c.1392C>G (p.Cys464Trp) c.93C>G (p.Cys31Trp) c.1068C>G (p.Cys356Trp) n.227C>G | ClinVar dbSNP |
3 | g.128481852G>T | CA354413520 | GATA2 | c.1110C>A (p.Cys370Ter) c.1392C>A (p.Cys464Ter) c.93C>A (p.Cys31Ter) c.1068C>A (p.Cys356Ter) n.227C>A | |
3 | g.128481853C>A | CA354413521 | GATA2 | c.1109G>T (p.Cys370Phe) c.1391G>T (p.Cys464Phe) c.92G>T (p.Cys31Phe) c.1067G>T (p.Cys356Phe) n.226G>T | |
3 | g.128481853C>G | CA354413522 | GATA2 | c.1109G>C (p.Cys370Ser) c.1391G>C (p.Cys464Ser) c.92G>C (p.Cys31Ser) c.1067G>C (p.Cys356Ser) n.226G>C | |
3 | g.128481853C>T | CA354413523 | GATA2 | c.1109G>A (p.Cys370Tyr) c.1391G>A (p.Cys464Tyr) c.92G>A (p.Cys31Tyr) c.1067G>A (p.Cys356Tyr) n.226G>A | ClinVar |
3 | g.128481854A>C | CA354413524 | GATA2 | c.1108T>G (p.Cys370Gly) c.1390T>G (p.Cys464Gly) c.91T>G (p.Cys31Gly) c.1066T>G (p.Cys356Gly) n.225T>G | |
3 | g.128481854A>G | CA354413525 | GATA2 | c.1108T>C (p.Cys370Arg) c.1390T>C (p.Cys464Arg) c.91T>C (p.Cys31Arg) c.1066T>C (p.Cys356Arg) n.225T>C | |
3 | g.128481854A>T | CA354413526 | GATA2 | c.1108T>A (p.Cys370Ser) c.1390T>A (p.Cys464Ser) c.91T>A (p.Cys31Ser) c.1066T>A (p.Cys356Ser) n.225T>A | |
3 | g.128481855G>A | CA435525543 | GATA2 | c.1107C>T (p.Val369=) c.1389C>T (p.Val463=) c.90C>T (p.Val30=) c.1065C>T (p.Val355=) n.224C>T | ClinVar dbSNP |
3 | g.128481855G>C | CA435525545 | GATA2 | c.1107C>G (p.Val369=) c.1389C>G (p.Val463=) c.90C>G (p.Val30=) c.1065C>G (p.Val355=) n.224C>G | |
3 | g.128481855G>T | CA435525546 | GATA2 | c.1107C>A (p.Val369=) c.1389C>A (p.Val463=) c.90C>A (p.Val30=) c.1065C>A (p.Val355=) n.224C>A | |
3 | g.128481856A>C | CA354413527 | GATA2 | c.1106T>G (p.Val369Gly) c.1388T>G (p.Val463Gly) c.89T>G (p.Val30Gly) c.1064T>G (p.Val355Gly) n.223T>G | |
3 | g.128481856A>G | CA354413528 | GATA2 | c.1106T>C (p.Val369Ala) c.1388T>C (p.Val463Ala) c.89T>C (p.Val30Ala) c.1064T>C (p.Val355Ala) n.223T>C | |
3 | g.128481856A>T | CA354413529 | GATA2 | c.1106T>A (p.Val369Asp) c.1388T>A (p.Val463Asp) c.89T>A (p.Val30Asp) c.1064T>A (p.Val355Asp) n.223T>A | |
3 | g.128481857C>A | CA354413531 | GATA2 | c.1105G>T (p.Val369Phe) c.1387G>T (p.Val463Phe) c.88G>T (p.Val30Phe) c.1063G>T (p.Val355Phe) n.222G>T | |
3 | g.128481857C>G | CA354413532 | GATA2 | c.1105G>C (p.Val369Leu) c.1387G>C (p.Val463Leu) c.88G>C (p.Val30Leu) c.1063G>C (p.Val355Leu) n.222G>C | |
3 | g.128481857C>T | CA354413530 | GATA2 | c.1105G>A (p.Val369Ile) c.1387G>A (p.Val463Ile) c.88G>A (p.Val30Ile) c.1063G>A (p.Val355Ile) n.222G>A | |
3 | g.128481858A>C | CA435525547 | GATA2 | c.1104T>G (p.Pro368=) c.1386T>G (p.Pro462=) c.87T>G (p.Pro29=) c.1062T>G (p.Pro354=) n.221T>G | |
3 | g.128481858A>G | CA435525548 | GATA2 | c.1104T>C (p.Pro368=) c.1386T>C (p.Pro462=) c.87T>C (p.Pro29=) c.1062T>C (p.Pro354=) n.221T>C | |
3 | g.128481858A>T | CA435525549 | GATA2 | c.1104T>A (p.Pro368=) c.1386T>A (p.Pro462=) c.87T>A (p.Pro29=) c.1062T>A (p.Pro354=) n.221T>A | |
3 | g.128481858_128481859del | CA2499216432 | GATA2 | c.1103_1104del (p.Pro368ArgfsTer15) c.1385_1386del (p.Pro462ArgfsTer15) c.86_87del (p.Pro29ArgfsTer16) c.1061_1062del (p.Pro354ArgfsTer15) n.220_221del | ClinVar dbSNP |
3 | g.128481859G>A | CA354413533 | GATA2 | c.1103C>T (p.Pro368Leu) c.1385C>T (p.Pro462Leu) c.86C>T (p.Pro29Leu) c.1061C>T (p.Pro354Leu) n.220C>T | |
3 | g.128481859G>C | CA354413534 | GATA2 | c.1103C>G (p.Pro368Arg) c.1385C>G (p.Pro462Arg) c.86C>G (p.Pro29Arg) c.1061C>G (p.Pro354Arg) n.220C>G | ClinVar |
3 | g.128481859G>T | CA354413535 | GATA2 | c.1103C>A (p.Pro368His) c.1385C>A (p.Pro462His) c.86C>A (p.Pro29His) c.1061C>A (p.Pro354His) n.220C>A | |
3 | g.128481860G>A | CA354413536 | GATA2 | c.1102C>T (p.Pro368Ser) c.1384C>T (p.Pro462Ser) c.85C>T (p.Pro29Ser) c.1060C>T (p.Pro354Ser) n.219C>T | ClinVar dbSNP |
3 | g.128481860G>C | CA354413537 | GATA2 | c.1102C>G (p.Pro368Ala) c.1384C>G (p.Pro462Ala) c.85C>G (p.Pro29Ala) c.1060C>G (p.Pro354Ala) n.219C>G | ClinVar dbSNP gnomAD v4 |
3 | g.128481860G= | CA1400715092 | GATA2 | c.1102C= (p.Pro368=) c.1384C= (p.Pro462=) c.85C= (p.Pro29=) c.1060C= (p.Pro354=) n.219C= | |
3 | g.128481860G>T | CA354413538 | GATA2 | c.1102C>A (p.Pro368Thr) c.1384C>A (p.Pro462Thr) c.85C>A (p.Pro29Thr) c.1060C>A (p.Pro354Thr) n.219C>A | |
3 | g.128481861G>A | CA2599867 | GATA2 | c.1101C>T (p.Asp367=) c.1383C>T (p.Asp461=) c.84C>T (p.Asp28=) c.1059C>T (p.Asp353=) n.218C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481861G>C | CA354413539 | GATA2 | c.1101C>G (p.Asp367Glu) c.1383C>G (p.Asp461Glu) c.84C>G (p.Asp28Glu) c.1059C>G (p.Asp353Glu) n.218C>G | |
3 | g.128481861G= | CA1400715096 | GATA2 | c.1101C= (p.Asp367=) c.1383C= (p.Asp461=) c.84C= (p.Asp28=) c.1059C= (p.Asp353=) n.218C= | |
3 | g.128481861G>T | CA354413540 | GATA2 | c.1101C>A (p.Asp367Glu) c.1383C>A (p.Asp461Glu) c.84C>A (p.Asp28Glu) c.1059C>A (p.Asp353Glu) n.218C>A | gnomAD v4 COSMIC |
3 | g.128481862T>A | CA354413541 | GATA2 | c.1100A>T (p.Asp367Val) c.1382A>T (p.Asp461Val) c.83A>T (p.Asp28Val) c.1058A>T (p.Asp353Val) n.217A>T | |
3 | g.128481862T>C | CA354413542 | GATA2 | c.1100A>G (p.Asp367Gly) c.1382A>G (p.Asp461Gly) c.83A>G (p.Asp28Gly) c.1058A>G (p.Asp353Gly) n.217A>G | gnomAD v4 |
3 | g.128481862T>G | CA354413543 | GATA2 | c.1100A>C (p.Asp367Ala) c.1382A>C (p.Asp461Ala) c.83A>C (p.Asp28Ala) c.1058A>C (p.Asp353Ala) n.217A>C | |
3 | g.128481862_128481864del | CA2586965863 | GATA2 | c.1098_1100del (p.Asp367del) c.1380_1382del (p.Asp461del) c.81_83del (p.Asp28del) c.1056_1058del (p.Asp353del) n.215_217del | |
3 | g.128481863C>A | CA354413545 | GATA2 | c.1099G>T (p.Asp367Tyr) c.1381G>T (p.Asp461Tyr) c.82G>T (p.Asp28Tyr) c.1057G>T (p.Asp353Tyr) n.216G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481863C= | CA1400715099 | GATA2 | c.1099G= (p.Asp367=) c.1381G= (p.Asp461=) c.82G= (p.Asp28=) c.1057G= (p.Asp353=) n.216G= | |
3 | g.128481863C>G | CA354413546 | GATA2 | c.1099G>C (p.Asp367His) c.1381G>C (p.Asp461His) c.82G>C (p.Asp28His) c.1057G>C (p.Asp353His) n.216G>C | |
3 | g.128481863C>T | CA354413544 | GATA2 | c.1099G>A (p.Asp367Asn) c.1381G>A (p.Asp461Asn) c.82G>A (p.Asp28Asn) c.1057G>A (p.Asp353Asn) n.216G>A | |
3 | g.128481866dup | CA2499216434 | GATA2 | c.1099dup (p.Asp367GlyfsTer17) c.1381dup (p.Asp461GlyfsTer17) c.82dup (p.Asp28GlyfsTer18) c.1057dup (p.Asp353GlyfsTer17) n.216dup | ClinVar dbSNP |
3 | g.128481866del | CA2499216433 | GATA2 | c.1099del (p.Asp367ThrfsTer20) c.1381del (p.Asp461ThrfsTer20) c.82del (p.Asp28ThrfsTer?) c.1057del (p.Asp353ThrfsTer20) n.216del | ClinVar dbSNP |
3 | g.128481864C>A | CA435525552 | GATA2 | c.1098G>T (p.Gly366=) c.1380G>T (p.Gly460=) c.81G>T (p.Gly27=) c.1056G>T (p.Gly352=) n.215G>T | |
3 | g.128481864C>G | CA435525553 | GATA2 | c.1098G>C (p.Gly366=) c.1380G>C (p.Gly460=) c.81G>C (p.Gly27=) c.1056G>C (p.Gly352=) n.215G>C | |
3 | g.128481864C>T | CA435525554 | GATA2 | c.1098G>A (p.Gly366=) c.1380G>A (p.Gly460=) c.81G>A (p.Gly27=) c.1056G>A (p.Gly352=) n.215G>A | gnomAD v4 |
3 | g.128481865C>A | CA354413547 | GATA2 | c.1097G>T (p.Gly366Val) c.1379G>T (p.Gly460Val) c.80G>T (p.Gly27Val) c.1055G>T (p.Gly352Val) n.214G>T | |
3 | g.128481865C>G | CA354413548 | GATA2 | c.1097G>C (p.Gly366Ala) c.1379G>C (p.Gly460Ala) c.80G>C (p.Gly27Ala) c.1055G>C (p.Gly352Ala) n.214G>C | |
3 | g.128481865C>T | CA354413549 | GATA2 | c.1097G>A (p.Gly366Glu) c.1379G>A (p.Gly460Glu) c.80G>A (p.Gly27Glu) c.1055G>A (p.Gly352Glu) n.214G>A | |
3 | g.128481866C>A | CA354413550 | GATA2 | c.1096G>T (p.Gly366Trp) c.1378G>T (p.Gly460Trp) c.79G>T (p.Gly27Trp) c.1054G>T (p.Gly352Trp) n.213G>T | |
3 | g.128481866C= | CA1400715102 | GATA2 | c.1096G= (p.Gly366=) c.1378G= (p.Gly460=) c.79G= (p.Gly27=) c.1054G= (p.Gly352=) n.213G= | |
3 | g.128481866C>G | CA354413551 | GATA2 | c.1096G>C (p.Gly366Arg) c.1378G>C (p.Gly460Arg) c.79G>C (p.Gly27Arg) c.1054G>C (p.Gly352Arg) n.213G>C | |
3 | g.128481866C>T | CA83376544 | GATA2 | c.1096G>A (p.Gly366Arg) c.1378G>A (p.Gly460Arg) c.79G>A (p.Gly27Arg) c.1054G>A (p.Gly352Arg) n.213G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.128481866_128481878delinsCGTTGGCGTTTCG | CA1400715104 | GATA2 | c.1084_1096delinsCGAAACGCCAACG (p.Arg362=) c.1366_1378delinsCGAAACGCCAACG (p.Arg456=) c.67_79delinsCGAAACGCCAACG (p.Arg23=) c.1042_1054delinsCGAAACGCCAACG (p.Arg348=) n.201_213delinsCGAAACGCCAACG | |
3 | g.128481867G>A | CA2599868 | GATA2 | c.1095C>T (p.Asn365=) c.1377C>T (p.Asn459=) c.78C>T (p.Asn26=) c.1053C>T (p.Asn351=) n.212C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128481867G>C | CA354413553 | GATA2 | c.1095C>G (p.Asn365Lys) c.1377C>G (p.Asn459Lys) c.78C>G (p.Asn26Lys) c.1053C>G (p.Asn351Lys) n.212C>G | ClinVar gnomAD v4 |
3 | g.128481867G= | CA1400715119 | GATA2 | c.1095C= (p.Asn365=) c.1377C= (p.Asn459=) c.78C= (p.Asn26=) c.1053C= (p.Asn351=) n.212C= | |
3 | g.128481867G>T | CA354413552 | GATA2 | c.1095C>A (p.Asn365Lys) c.1377C>A (p.Asn459Lys) c.78C>A (p.Asn26Lys) c.1053C>A (p.Asn351Lys) n.212C>A | |
3 | g.128481868_128481879del | CA358689 | GATA2 | c.1084_1095del (p.Arg362_Asn365del) c.1366_1377del (p.Arg456_Asn459del) c.67_78del (p.Arg23_Asn26del) c.1042_1053del (p.Arg348_Asn351del) n.201_212del | ClinVar dbSNP |
3 | g.128481867_128481896del | CA1139654931 | GATA2 | c.1066_1095del (p.Thr356_Asn365del) c.1348_1377del (p.Thr450_Asn459del) c.49_78del (p.Thr17_Asn26del) c.1024_1053del (p.Thr342_Asn351del) n.183_212del | ClinVar dbSNP |
3 | g.128481868T>A | CA354413554 | GATA2 | c.1094A>T (p.Asn365Ile) c.1376A>T (p.Asn459Ile) c.77A>T (p.Asn26Ile) c.1052A>T (p.Asn351Ile) n.211A>T | |
3 | g.128481868T>C | CA2599869 | GATA2 | c.1094A>G (p.Asn365Ser) c.1376A>G (p.Asn459Ser) c.77A>G (p.Asn26Ser) c.1052A>G (p.Asn351Ser) n.211A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128481868T>G | CA354413555 | GATA2 | c.1094A>C (p.Asn365Thr) c.1376A>C (p.Asn459Thr) c.77A>C (p.Asn26Thr) c.1052A>C (p.Asn351Thr) n.211A>C | |
3 | g.128481868T= | CA1400715127 | GATA2 | c.1094A= (p.Asn365=) c.1376A= (p.Asn459=) c.77A= (p.Asn26=) c.1052A= (p.Asn351=) n.211A= | |
3 | g.128481869T>A | CA354413558 | GATA2 | c.1093A>T (p.Asn365Tyr) c.1375A>T (p.Asn459Tyr) c.76A>T (p.Asn26Tyr) c.1051A>T (p.Asn351Tyr) n.210A>T | |
3 | g.128481869T>C | CA354413557 | GATA2 | c.1093A>G (p.Asn365Asp) c.1375A>G (p.Asn459Asp) c.76A>G (p.Asn26Asp) c.1051A>G (p.Asn351Asp) n.210A>G | |
3 | g.128481869T>G | CA354413556 | GATA2 | c.1093A>C (p.Asn365His) c.1375A>C (p.Asn459His) c.76A>C (p.Asn26His) c.1051A>C (p.Asn351His) n.210A>C | |
3 | g.128481869T= | CA1400715131 | GATA2 | c.1093A= (p.Asn365=) c.1375A= (p.Asn459=) c.76A= (p.Asn26=) c.1051A= (p.Asn351=) n.210A= | |
3 | g.128481870G>A | CA435525558 | GATA2 | c.1092C>T (p.Ala364=) c.1374C>T (p.Ala458=) c.75C>T (p.Ala25=) c.1050C>T (p.Ala350=) n.209C>T | |
3 | g.128481870G>C | CA435525559 | GATA2 | c.1092C>G (p.Ala364=) c.1374C>G (p.Ala458=) c.75C>G (p.Ala25=) c.1050C>G (p.Ala350=) n.209C>G | |
3 | g.128481870G>T | CA435525561 | GATA2 | c.1092C>A (p.Ala364=) c.1374C>A (p.Ala458=) c.75C>A (p.Ala25=) c.1050C>A (p.Ala350=) n.209C>A | |
3 | g.128481872_128481922dup | CA1400715133 | GATA2 | c.1042_1092dup (p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.1324_1374dup (p.Ala458_Asn459insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.25_75dup (p.Ala25_Asn26insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.1018-18_1050dup n.159_209dup | ClinVar dbSNP |
3 | g.128481871G>A | CA354413559 | GATA2 | c.1091C>T (p.Ala364Val) c.1373C>T (p.Ala458Val) c.74C>T (p.Ala25Val) c.1049C>T (p.Ala350Val) n.208C>T | dbSNP |
3 | g.128481871G>C | CA2599870 | GATA2 | c.1091C>G (p.Ala364Gly) c.1373C>G (p.Ala458Gly) c.74C>G (p.Ala25Gly) c.1049C>G (p.Ala350Gly) n.208C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481871G= | CA1400715136 | GATA2 | c.1091C= (p.Ala364=) c.1373C= (p.Ala458=) c.74C= (p.Ala25=) c.1049C= (p.Ala350=) n.208C= | |
3 | g.128481871G>T | CA354413560 | GATA2 | c.1091C>A (p.Ala364Asp) c.1373C>A (p.Ala458Asp) c.74C>A (p.Ala25Asp) c.1049C>A (p.Ala350Asp) n.208C>A | gnomAD v4 |
3 | g.128481872C>A | CA354413561 | GATA2 | c.1090G>T (p.Ala364Ser) c.1372G>T (p.Ala458Ser) c.73G>T (p.Ala25Ser) c.1048G>T (p.Ala350Ser) n.207G>T | |
3 | g.128481872C= | CA1400715141 | GATA2 | c.1090G= (p.Ala364=) c.1372G= (p.Ala458=) c.73G= (p.Ala25=) c.1048G= (p.Ala350=) n.207G= | |
3 | g.128481872C>G | CA354413562 | GATA2 | c.1090G>C (p.Ala364Pro) c.1372G>C (p.Ala458Pro) c.73G>C (p.Ala25Pro) c.1048G>C (p.Ala350Pro) n.207G>C | ClinVar gnomAD v4 |
3 | g.128481872C>T | CA2599871 | GATA2 | c.1090G>A (p.Ala364Thr) c.1372G>A (p.Ala458Thr) c.73G>A (p.Ala25Thr) c.1048G>A (p.Ala350Thr) n.207G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128481873G>A | CA2599872 | GATA2 | c.1089C>T (p.Asn363=) c.1371C>T (p.Asn457=) c.72C>T (p.Asn24=) c.1047C>T (p.Asn349=) n.206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128481873G>C | CA354413563 | GATA2 | c.1089C>G (p.Asn363Lys) c.1371C>G (p.Asn457Lys) c.72C>G (p.Asn24Lys) c.1047C>G (p.Asn349Lys) n.206C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128481873G= | CA1400715147 | GATA2 | c.1089C= (p.Asn363=) c.1371C= (p.Asn457=) c.72C= (p.Asn24=) c.1047C= (p.Asn349=) n.206C= | |
3 | g.128481873G>T | CA354413564 | GATA2 | c.1089C>A (p.Asn363Lys) c.1371C>A (p.Asn457Lys) c.72C>A (p.Asn24Lys) c.1047C>A (p.Asn349Lys) n.206C>A | gnomAD v4 |
3 | g.128481874T>A | CA354413565 | GATA2 | c.1088A>T (p.Asn363Ile) c.1370A>T (p.Asn457Ile) c.71A>T (p.Asn24Ile) c.1046A>T (p.Asn349Ile) n.205A>T | |
3 | g.128481874T>C | CA354413566 | GATA2 | c.1088A>G (p.Asn363Ser) c.1370A>G (p.Asn457Ser) c.71A>G (p.Asn24Ser) c.1046A>G (p.Asn349Ser) n.205A>G | |
3 | g.128481874T>G | CA354413567 | GATA2 | c.1088A>C (p.Asn363Thr) c.1370A>C (p.Asn457Thr) c.71A>C (p.Asn24Thr) c.1046A>C (p.Asn349Thr) n.205A>C | |
3 | g.128481875T>A | CA354413568 | GATA2 | c.1087A>T (p.Asn363Tyr) c.1369A>T (p.Asn457Tyr) c.70A>T (p.Asn24Tyr) c.1045A>T (p.Asn349Tyr) n.204A>T | |
3 | g.128481875T>C | CA354413569 | GATA2 | c.1087A>G (p.Asn363Asp) c.1369A>G (p.Asn457Asp) c.70A>G (p.Asn24Asp) c.1045A>G (p.Asn349Asp) n.204A>G | |
3 | g.128481875T>G | CA354413570 | GATA2 | c.1087A>C (p.Asn363His) c.1369A>C (p.Asn457His) c.70A>C (p.Asn24His) c.1045A>C (p.Asn349His) n.204A>C | |
3 | g.128481875_128481876insCCT | CA645529126 | GATA2 | c.1087_1088insGGA (p.Arg362_Asn363insArg) c.1369_1370insGGA (p.Arg456_Asn457insArg) c.70_71insGGA (p.Arg23_Asn24insArg) c.1045_1046insGGA (p.Arg348_Asn349insArg) n.204_205insGGA | COSMIC |
3 | g.128481878_128481934dup | CA2580068710 | GATA2 | c.1031_1087dup (p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.1313_1369dup (p.Arg456_Asn457insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.14_70dup (p.Arg23_Asn24insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.1018-29_1045dup n.148_204dup | ClinVar |