| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128481144C>A | CA354412780 | GATA2 | c.1318G>T (p.Val440Leu) c.1600G>T (p.Val534Leu) c.293G>T (p.Cys98Phe) c.1276G>T (p.Val426Leu) n.435G>T | |
| 3 | g.128481144C= | CA1400714004 | GATA2 | c.1318G= (p.Val440=) c.1600G= (p.Val534=) c.293G= (p.Cys98=) c.1276G= (p.Val426=) n.435G= | |
| 3 | g.128481144C>G | CA354412781 | GATA2 | c.1318G>C (p.Val440Leu) c.1600G>C (p.Val534Leu) c.293G>C (p.Cys98Ser) c.1276G>C (p.Val426Leu) n.435G>C | |
| 3 | g.128481144C>T | CA83376241 | GATA2 | c.1318G>A (p.Val440Met) c.1600G>A (p.Val534Met) c.293G>A (p.Cys98Tyr) c.1276G>A (p.Val426Met) n.435G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481145A>C | CA435524500 | GATA2 | c.1317T>G (p.Pro439=) c.1599T>G (p.Pro533=) c.292T>G (p.Cys98Gly) c.1275T>G (p.Pro425=) n.434T>G | |
| 3 | g.128481145A>G | CA435524502 | GATA2 | c.1317T>C (p.Pro439=) c.1599T>C (p.Pro533=) c.292T>C (p.Cys98Arg) c.1275T>C (p.Pro425=) n.434T>C | |
| 3 | g.128481145A>T | CA435524504 | GATA2 | c.1317T>A (p.Pro439=) c.1599T>A (p.Pro533=) c.292T>A (p.Cys98Ser) c.1275T>A (p.Pro425=) n.434T>A | dbSNP |
| 3 | g.128481146G>A | CA2599802 | GATA2 | c.1316C>T (p.Pro439Leu) c.1598C>T (p.Pro533Leu) c.291C>T (p.Thr97=) c.1274C>T (p.Pro425Leu) n.433C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481146G>C | CA354412783 | GATA2 | c.1316C>G (p.Pro439Arg) c.1598C>G (p.Pro533Arg) c.291C>G (p.Thr97=) c.1274C>G (p.Pro425Arg) n.433C>G | dbSNP |
| 3 | g.128481146G= | CA1400714011 | GATA2 | c.1316C= (p.Pro439=) c.1598C= (p.Pro533=) c.291C= (p.Thr97=) c.1274C= (p.Pro425=) n.433C= | |
| 3 | g.128481146G>T | CA354412784 | GATA2 | c.1316C>A (p.Pro439His) c.1598C>A (p.Pro533His) c.291C>A (p.Thr97=) c.1274C>A (p.Pro425His) n.433C>A | ClinVar |
| 3 | g.128481147G>A | CA354412785 | GATA2 | c.1315C>T (p.Pro439Ser) c.1597C>T (p.Pro533Ser) c.290C>T (p.Thr97Ile) c.1273C>T (p.Pro425Ser) n.432C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481147G>C | CA354412786 | GATA2 | c.1315C>G (p.Pro439Ala) c.1597C>G (p.Pro533Ala) c.290C>G (p.Thr97Ser) c.1273C>G (p.Pro425Ala) n.432C>G | dbSNP |
| 3 | g.128481147G= | CA1400714015 | GATA2 | c.1315C= (p.Pro439=) c.1597C= (p.Pro533=) c.290C= (p.Thr97=) c.1273C= (p.Pro425=) n.432C= | |
| 3 | g.128481147G>T | CA354412787 | GATA2 | c.1315C>A (p.Pro439Thr) c.1597C>A (p.Pro533Thr) c.290C>A (p.Thr97Asn) c.1273C>A (p.Pro425Thr) n.432C>A | |
| 3 | g.128481148T>A | CA435524510 | GATA2 | c.1314A>T (p.Ala438=) c.1596A>T (p.Ala532=) c.289A>T (p.Thr97Ser) c.1272A>T (p.Ala424=) n.431A>T | |
| 3 | g.128481148T>C | CA435524512 | GATA2 | c.1314A>G (p.Ala438=) c.1596A>G (p.Ala532=) c.289A>G (p.Thr97Ala) c.1272A>G (p.Ala424=) n.431A>G | |
| 3 | g.128481148T>G | CA435524514 | GATA2 | c.1314A>C (p.Ala438=) c.1596A>C (p.Ala532=) c.289A>C (p.Thr97Pro) c.1272A>C (p.Ala424=) n.431A>C | dbSNP |
| 3 | g.128481148T= | CA1400714017 | GATA2 | c.1314A= (p.Ala438=) c.1596A= (p.Ala532=) c.289A= (p.Thr97=) c.1272A= (p.Ala424=) n.431A= | |
| 3 | g.128481149G>A | CA354412789 | GATA2 | c.1313C>T (p.Ala438Val) c.1595C>T (p.Ala532Val) c.288C>T (p.Gly96=) c.1271C>T (p.Ala424Val) n.430C>T | dbSNP |
| 3 | g.128481149G>C | CA354412790 | GATA2 | c.1313C>G (p.Ala438Gly) c.1595C>G (p.Ala532Gly) c.288C>G (p.Gly96=) c.1271C>G (p.Ala424Gly) n.430C>G | |
| 3 | g.128481149G>T | CA354412788 | GATA2 | c.1313C>A (p.Ala438Glu) c.1595C>A (p.Ala532Glu) c.288C>A (p.Gly96=) c.1271C>A (p.Ala424Glu) n.430C>A | |
| 3 | g.128481150C>A | CA2599803 | GATA2 | c.1312G>T (p.Ala438Ser) c.1594G>T (p.Ala532Ser) c.287G>T (p.Gly96Val) c.1270G>T (p.Ala424Ser) n.429G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481150C= | CA1400714020 | GATA2 | c.1312G= (p.Ala438=) c.1594G= (p.Ala532=) c.287G= (p.Gly96=) c.1270G= (p.Ala424=) n.429G= | |
| 3 | g.128481150C>G | CA354412791 | GATA2 | c.1312G>C (p.Ala438Pro) c.1594G>C (p.Ala532Pro) c.287G>C (p.Gly96Ala) c.1270G>C (p.Ala424Pro) n.429G>C | |
| 3 | g.128481150C>T | CA354412792 | GATA2 | c.1312G>A (p.Ala438Thr) c.1594G>A (p.Ala532Thr) c.287G>A (p.Gly96Asp) c.1270G>A (p.Ala424Thr) n.429G>A | dbSNP |
| 3 | g.128481151dup | CA2667540266 | GATA2 | c.1312dup (p.Ala438GlyfsTer?) c.1594dup (p.Ala532GlyfsTer?) c.287dup (p.Thr97HisfsTer?) c.1270dup (p.Ala424GlyfsTer?) n.429dup | gnomAD v4 |
| 3 | g.128481151C>A | CA354412793 | GATA2 | c.1311G>T (p.Met437Ile) c.1593G>T (p.Met531Ile) c.286G>T (p.Gly96Cys) c.1269G>T (p.Met423Ile) n.428G>T | |
| 3 | g.128481151C= | CA1400714025 | GATA2 | c.1311G= (p.Met437=) c.1593G= (p.Met531=) c.286G= (p.Gly96=) c.1269G= (p.Met423=) n.428G= | |
| 3 | g.128481151C>G | CA354412794 | GATA2 | c.1311G>C (p.Met437Ile) c.1593G>C (p.Met531Ile) c.286G>C (p.Gly96Arg) c.1269G>C (p.Met423Ile) n.428G>C | |
| 3 | g.128481151C>T | CA354412795 | GATA2 | c.1311G>A (p.Met437Ile) c.1593G>A (p.Met531Ile) c.286G>A (p.Gly96Ser) c.1269G>A (p.Met423Ile) n.428G>A | dbSNP |
| 3 | g.128481152A>C | CA354412798 | GATA2 | c.1310T>G (p.Met437Arg) c.1592T>G (p.Met531Arg) c.285T>G (p.His95Gln) c.1268T>G (p.Met423Arg) n.427T>G | |
| 3 | g.128481152A>G | CA354412796 | GATA2 | c.1310T>C (p.Met437Thr) c.1592T>C (p.Met531Thr) c.285T>C (p.His95=) c.1268T>C (p.Met423Thr) n.427T>C | |
| 3 | g.128481152A>T | CA354412797 | GATA2 | c.1310T>A (p.Met437Lys) c.1592T>A (p.Met531Lys) c.285T>A (p.His95Gln) c.1268T>A (p.Met423Lys) n.427T>A | |
| 3 | g.128481153T>A | CA354412799 | GATA2 | c.1309A>T (p.Met437Leu) c.1591A>T (p.Met531Leu) c.284A>T (p.His95Leu) c.1267A>T (p.Met423Leu) n.426A>T | |
| 3 | g.128481153T>C | CA354412800 | GATA2 | c.1309A>G (p.Met437Val) c.1591A>G (p.Met531Val) c.284A>G (p.His95Arg) c.1267A>G (p.Met423Val) n.426A>G | gnomAD v4 |
| 3 | g.128481153T>G | CA354412801 | GATA2 | c.1309A>C (p.Met437Leu) c.1591A>C (p.Met531Leu) c.284A>C (p.His95Pro) c.1267A>C (p.Met423Leu) n.426A>C | dbSNP |
| 3 | g.128481153T= | CA1400714029 | GATA2 | c.1309A= (p.Met437=) c.1591A= (p.Met531=) c.284A= (p.His95=) c.1267A= (p.Met423=) n.426A= | |
| 3 | g.128481154G>A | CA435524527 | GATA2 | c.1308C>T (p.His436=) c.1590C>T (p.His530=) c.283C>T (p.His95Tyr) c.1266C>T (p.His422=) n.425C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481154G>C | CA354412802 | GATA2 | c.1308C>G (p.His436Gln) c.1590C>G (p.His530Gln) c.283C>G (p.His95Asp) c.1266C>G (p.His422Gln) n.425C>G | |
| 3 | g.128481154G= | CA1400714031 | GATA2 | c.1308C= (p.His436=) c.1590C= (p.His530=) c.283C= (p.His95=) c.1266C= (p.His422=) n.425C= | |
| 3 | g.128481154G>T | CA354412803 | GATA2 | c.1308C>A (p.His436Gln) c.1590C>A (p.His530Gln) c.283C>A (p.His95Asn) c.1266C>A (p.His422Gln) n.425C>A | |
| 3 | g.128481155T>A | CA354412804 | GATA2 | c.1307A>T (p.His436Leu) c.1589A>T (p.His530Leu) c.282A>T (p.Thr94=) c.1265A>T (p.His422Leu) n.424A>T | ClinVar dbSNP |
| 3 | g.128481155T>C | CA354412806 | GATA2 | c.1307A>G (p.His436Arg) c.1589A>G (p.His530Arg) c.282A>G (p.Thr94=) c.1265A>G (p.His422Arg) n.424A>G | |
| 3 | g.128481155T>G | CA354412805 | GATA2 | c.1307A>C (p.His436Pro) c.1589A>C (p.His530Pro) c.282A>C (p.Thr94=) c.1265A>C (p.His422Pro) n.424A>C | |
| 3 | g.128481155_128481156insTGGA | CA2580068691 | GATA2 | c.1306_1307insTCCA (p.His436LeufsTer?) c.1588_1589insTCCA (p.His530LeufsTer?) c.281_282insTCCA (p.His95ProfsTer?) c.1264_1265insTCCA (p.His422LeufsTer?) n.423_424insTCCA | ClinVar |
| 3 | g.128481156G>A | CA2599804 | GATA2 | c.1306C>T (p.His436Tyr) c.1588C>T (p.His530Tyr) c.281C>T (p.Thr94Ile) c.1264C>T (p.His422Tyr) n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481156G>C | CA354412807 | GATA2 | c.1306C>G (p.His436Asp) c.1588C>G (p.His530Asp) c.281C>G (p.Thr94Arg) c.1264C>G (p.His422Asp) n.423C>G | |
| 3 | g.128481156G= | CA1400714035 | GATA2 | c.1306C= (p.His436=) c.1588C= (p.His530=) c.281C= (p.Thr94=) c.1264C= (p.His422=) n.423C= | |
| 3 | g.128481156G>T | CA354412808 | GATA2 | c.1306C>A (p.His436Asn) c.1588C>A (p.His530Asn) c.281C>A (p.Thr94Lys) c.1264C>A (p.His422Asn) n.423C>A | |
| 3 | g.128481157T>A | CA435524808 | GATA2 | c.1305A>T (p.Gly435=) c.1587A>T (p.Gly529=) c.280A>T (p.Thr94Ser) c.1263A>T (p.Gly421=) n.422A>T | |
| 3 | g.128481157T>C | CA435524810 | GATA2 | c.1305A>G (p.Gly435=) c.1587A>G (p.Gly529=) c.280A>G (p.Thr94Ala) c.1263A>G (p.Gly421=) n.422A>G | |
| 3 | g.128481157T>G | CA435524812 | GATA2 | c.1305A>C (p.Gly435=) c.1587A>C (p.Gly529=) c.280A>C (p.Thr94Pro) c.1263A>C (p.Gly421=) n.422A>C | |
| 3 | g.128481158C>A | CA354412809 | GATA2 | c.1304G>T (p.Gly435Val) c.1586G>T (p.Gly529Val) c.279G>T (p.Trp93Cys) c.1262G>T (p.Gly421Val) n.421G>T | |
| 3 | g.128481158C>G | CA354412810 | GATA2 | c.1304G>C (p.Gly435Ala) c.1586G>C (p.Gly529Ala) c.279G>C (p.Trp93Cys) c.1262G>C (p.Gly421Ala) n.421G>C | |
| 3 | g.128481158C>T | CA354412811 | GATA2 | c.1304G>A (p.Gly435Glu) c.1586G>A (p.Gly529Glu) c.279G>A (p.Trp93Ter) c.1262G>A (p.Gly421Glu) n.421G>A | |
| 3 | g.128481159C>A | CA354412812 | GATA2 | c.1303G>T (p.Gly435Ter) c.1585G>T (p.Gly529Ter) c.278G>T (p.Trp93Leu) c.1261G>T (p.Gly421Ter) n.420G>T | |
| 3 | g.128481159C>G | CA354412813 | GATA2 | c.1303G>C (p.Gly435Arg) c.1585G>C (p.Gly529Arg) c.278G>C (p.Trp93Ser) c.1261G>C (p.Gly421Arg) n.420G>C | ClinVar |
| 3 | g.128481159C>T | CA354412814 | GATA2 | c.1303G>A (p.Gly435Arg) c.1585G>A (p.Gly529Arg) c.278G>A (p.Trp93Ter) c.1261G>A (p.Gly421Arg) n.420G>A | |
| 3 | g.128481160A= | CA1400714037 | GATA2 | c.1302T= (p.Ala434=) c.1584T= (p.Ala528=) c.277T= (p.Trp93=) c.1260T= (p.Ala420=) n.419T= | |
| 3 | g.128481160A>C | CA83376249 | GATA2 | c.1302T>G (p.Ala434=) c.1584T>G (p.Ala528=) c.277T>G (p.Trp93Gly) c.1260T>G (p.Ala420=) n.419T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481160A>G | CA435524819 | GATA2 | c.1302T>C (p.Ala434=) c.1584T>C (p.Ala528=) c.277T>C (p.Trp93Arg) c.1260T>C (p.Ala420=) n.419T>C | |
| 3 | g.128481160A>T | CA435524820 | GATA2 | c.1302T>A (p.Ala434=) c.1584T>A (p.Ala528=) c.277T>A (p.Trp93Arg) c.1260T>A (p.Ala420=) n.419T>A | COSMIC |
| 3 | g.128481161G>A | CA354412815 | GATA2 | c.1301C>T (p.Ala434Val) c.1583C>T (p.Ala528Val) c.276C>T (p.Gly92=) c.1259C>T (p.Ala420Val) n.418C>T | ClinVar dbSNP |
| 3 | g.128481161G>C | CA354412816 | GATA2 | c.1301C>G (p.Ala434Gly) c.1583C>G (p.Ala528Gly) c.276C>G (p.Gly92=) c.1259C>G (p.Ala420Gly) n.418C>G | |
| 3 | g.128481161G>T | CA354412817 | GATA2 | c.1301C>A (p.Ala434Asp) c.1583C>A (p.Ala528Asp) c.276C>A (p.Gly92=) c.1259C>A (p.Ala420Asp) n.418C>A | |
| 3 | g.128481162C>A | CA354412819 | GATA2 | c.1300G>T (p.Ala434Ser) c.1582G>T (p.Ala528Ser) c.275G>T (p.Gly92Val) c.1258G>T (p.Ala420Ser) n.417G>T | COSMIC |
| 3 | g.128481162C= | CA1400714042 | GATA2 | c.1300G= (p.Ala434=) c.1582G= (p.Ala528=) c.275G= (p.Gly92=) c.1258G= (p.Ala420=) n.417G= | |
| 3 | g.128481162C>G | CA354412821 | GATA2 | c.1300G>C (p.Ala434Pro) c.1582G>C (p.Ala528Pro) c.275G>C (p.Gly92Ala) c.1258G>C (p.Ala420Pro) n.417G>C | ClinVar dbSNP |
| 3 | g.128481162C>T | CA354412820 | GATA2 | c.1300G>A (p.Ala434Thr) c.1582G>A (p.Ala528Thr) c.275G>A (p.Gly92Asp) c.1258G>A (p.Ala420Thr) n.417G>A | ClinVar |
| 3 | g.128481163C>A | CA435524826 | GATA2 | c.1299G>T (p.Leu433=) c.1581G>T (p.Leu527=) c.274G>T (p.Gly92Cys) c.1257G>T (p.Leu419=) n.416G>T | |
| 3 | g.128481163C>G | CA435524827 | GATA2 | c.1299G>C (p.Leu433=) c.1581G>C (p.Leu527=) c.274G>C (p.Gly92Arg) c.1257G>C (p.Leu419=) n.416G>C | |
| 3 | g.128481163C>T | CA435524828 | GATA2 | c.1299G>A (p.Leu433=) c.1581G>A (p.Leu527=) c.274G>A (p.Gly92Ser) c.1257G>A (p.Leu419=) n.416G>A | gnomAD v4 |
| 3 | g.128481164A= | CA1400714050 | GATA2 | c.1298T= (p.Leu433=) c.1580T= (p.Leu527=) c.273T= (p.Pro91=) c.1256T= (p.Leu419=) n.415T= | |
| 3 | g.128481164A>C | CA354412822 | GATA2 | c.1298T>G (p.Leu433Arg) c.1580T>G (p.Leu527Arg) c.273T>G (p.Pro91=) c.1256T>G (p.Leu419Arg) n.415T>G | dbSNP |
| 3 | g.128481164A>G | CA354412824 | GATA2 | c.1298T>C (p.Leu433Pro) c.1580T>C (p.Leu527Pro) c.273T>C (p.Pro91=) c.1256T>C (p.Leu419Pro) n.415T>C | |
| 3 | g.128481164A>T | CA354412823 | GATA2 | c.1298T>A (p.Leu433Gln) c.1580T>A (p.Leu527Gln) c.273T>A (p.Pro91=) c.1256T>A (p.Leu419Gln) n.415T>A | |
| 3 | g.128481165G>A | CA435524830 | GATA2 | c.1297C>T (p.Leu433=) c.1579C>T (p.Leu527=) c.272C>T (p.Pro91Leu) c.1255C>T (p.Leu419=) n.414C>T | |
| 3 | g.128481165G>C | CA354412825 | GATA2 | c.1297C>G (p.Leu433Val) c.1579C>G (p.Leu527Val) c.272C>G (p.Pro91Arg) c.1255C>G (p.Leu419Val) n.414C>G | dbSNP |
| 3 | g.128481165G= | CA1400714054 | GATA2 | c.1297C= (p.Leu433=) c.1579C= (p.Leu527=) c.272C= (p.Pro91=) c.1255C= (p.Leu419=) n.414C= | |
| 3 | g.128481165G>T | CA354412826 | GATA2 | c.1297C>A (p.Leu433Met) c.1579C>A (p.Leu527Met) c.272C>A (p.Pro91His) c.1255C>A (p.Leu419Met) n.414C>A | |
| 3 | g.128481166G>A | CA435524832 | GATA2 | c.1296C>T (p.Ala432=) c.1578C>T (p.Ala526=) c.271C>T (p.Pro91Ser) c.1254C>T (p.Ala418=) n.413C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481166G>C | CA435524833 | GATA2 | c.1296C>G (p.Ala432=) c.1578C>G (p.Ala526=) c.271C>G (p.Pro91Ala) c.1254C>G (p.Ala418=) n.413C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481166G= | CA1400714056 | GATA2 | c.1296C= (p.Ala432=) c.1578C= (p.Ala526=) c.271C= (p.Pro91=) c.1254C= (p.Ala418=) n.413C= | |
| 3 | g.128481166G>T | CA435524835 | GATA2 | c.1296C>A (p.Ala432=) c.1578C>A (p.Ala526=) c.271C>A (p.Pro91Thr) c.1254C>A (p.Ala418=) n.413C>A | |
| 3 | g.128481167G>A | CA354412827 | GATA2 | c.1295C>T (p.Ala432Val) c.1577C>T (p.Ala526Val) c.270C>T (p.Cys90=) c.1253C>T (p.Ala418Val) n.412C>T | gnomAD v4 |
| 3 | g.128481167G>C | CA354412828 | GATA2 | c.1295C>G (p.Ala432Gly) c.1577C>G (p.Ala526Gly) c.270C>G (p.Cys90Trp) c.1253C>G (p.Ala418Gly) n.412C>G | ClinVar dbSNP |
| 3 | g.128481167G>T | CA354412829 | GATA2 | c.1295C>A (p.Ala432Asp) c.1577C>A (p.Ala526Asp) c.270C>A (p.Cys90Ter) c.1253C>A (p.Ala418Asp) n.412C>A | |
| 3 | g.128481168C>A | CA354412830 | GATA2 | c.1294G>T (p.Ala432Ser) c.1576G>T (p.Ala526Ser) c.269G>T (p.Cys90Phe) c.1252G>T (p.Ala418Ser) n.411G>T | |
| 3 | g.128481168C= | CA1400714059 | GATA2 | c.1294G= (p.Ala432=) c.1576G= (p.Ala526=) c.269G= (p.Cys90=) c.1252G= (p.Ala418=) n.411G= | |
| 3 | g.128481168C>G | CA354412831 | GATA2 | c.1294G>C (p.Ala432Pro) c.1576G>C (p.Ala526Pro) c.269G>C (p.Cys90Ser) c.1252G>C (p.Ala418Pro) n.411G>C | |
| 3 | g.128481168C>T | CA2599805 | GATA2 | c.1294G>A (p.Ala432Thr) c.1576G>A (p.Ala526Thr) c.269G>A (p.Cys90Tyr) c.1252G>A (p.Ala418Thr) n.411G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481169A>C | CA435524843 | GATA2 | c.1293T>G (p.Ala431=) c.1575T>G (p.Ala525=) c.268T>G (p.Cys90Gly) c.1251T>G (p.Ala417=) n.410T>G | |
| 3 | g.128481169A>G | CA435524844 | GATA2 | c.1293T>C (p.Ala431=) c.1575T>C (p.Ala525=) c.268T>C (p.Cys90Arg) c.1251T>C (p.Ala417=) n.410T>C | |
| 3 | g.128481169A>T | CA435524845 | GATA2 | c.1293T>A (p.Ala431=) c.1575T>A (p.Ala525=) c.268T>A (p.Cys90Ser) c.1251T>A (p.Ala417=) n.410T>A | |
| 3 | g.128481170G>A | CA354412832 | GATA2 | c.1292C>T (p.Ala431Val) c.1574C>T (p.Ala525Val) c.267C>T (p.Ser89=) c.1250C>T (p.Ala417Val) n.409C>T | ClinVar dbSNP |
| 3 | g.128481170G>C | CA354412833 | GATA2 | c.1292C>G (p.Ala431Gly) c.1574C>G (p.Ala525Gly) c.267C>G (p.Ser89Arg) c.1250C>G (p.Ala417Gly) n.409C>G | |
| 3 | g.128481170G>T | CA354412834 | GATA2 | c.1292C>A (p.Ala431Asp) c.1574C>A (p.Ala525Asp) c.267C>A (p.Ser89Arg) c.1250C>A (p.Ala417Asp) n.409C>A | |
| 3 | g.128481171C>A | CA354412836 | GATA2 | c.1291G>T (p.Ala431Ser) c.1573G>T (p.Ala525Ser) c.266G>T (p.Ser89Ile) c.1249G>T (p.Ala417Ser) n.408G>T | |
| 3 | g.128481171C>G | CA354412838 | GATA2 | c.1291G>C (p.Ala431Pro) c.1573G>C (p.Ala525Pro) c.266G>C (p.Ser89Thr) c.1249G>C (p.Ala417Pro) n.408G>C | |
| 3 | g.128481171C>T | CA354412840 | GATA2 | c.1291G>A (p.Ala431Thr) c.1573G>A (p.Ala525Thr) c.266G>A (p.Ser89Asn) c.1249G>A (p.Ala417Thr) n.408G>A | |
| 3 | g.128481172T>A | CA435524855 | GATA2 | c.1290A>T (p.Ala430=) c.1572A>T (p.Ala524=) c.265A>T (p.Ser89Cys) c.1248A>T (p.Ala416=) n.407A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481172T>C | CA435524856 | GATA2 | c.1290A>G (p.Ala430=) c.1572A>G (p.Ala524=) c.265A>G (p.Ser89Gly) c.1248A>G (p.Ala416=) n.407A>G | |
| 3 | g.128481172T>G | CA2599806 | GATA2 | c.1290A>C (p.Ala430=) c.1572A>C (p.Ala524=) c.265A>C (p.Ser89Arg) c.1248A>C (p.Ala416=) n.407A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481172T= | CA1400714061 | GATA2 | c.1290A= (p.Ala430=) c.1572A= (p.Ala524=) c.265A= (p.Ser89=) c.1248A= (p.Ala416=) n.407A= | |
| 3 | g.128481173G>A | CA354412841 | GATA2 | c.1289C>T (p.Ala430Val) c.1571C>T (p.Ala524Val) c.264C>T (p.Cys88=) c.1247C>T (p.Ala416Val) n.406C>T | ClinVar dbSNP |
| 3 | g.128481173G>C | CA354412843 | GATA2 | c.1289C>G (p.Ala430Gly) c.1571C>G (p.Ala524Gly) c.264C>G (p.Cys88Trp) c.1247C>G (p.Ala416Gly) n.406C>G | |
| 3 | g.128481173G= | CA1400714068 | GATA2 | c.1289C= (p.Ala430=) c.1571C= (p.Ala524=) c.264C= (p.Cys88=) c.1247C= (p.Ala416=) n.406C= | |
| 3 | g.128481173G>T | CA354412844 | GATA2 | c.1289C>A (p.Ala430Glu) c.1571C>A (p.Ala524Glu) c.264C>A (p.Cys88Ter) c.1247C>A (p.Ala416Glu) n.406C>A | |
| 3 | g.128481174C>A | CA354412846 | GATA2 | c.1288G>T (p.Ala430Ser) c.1570G>T (p.Ala524Ser) c.263G>T (p.Cys88Phe) c.1246G>T (p.Ala416Ser) n.405G>T | |
| 3 | g.128481174C>G | CA354412848 | GATA2 | c.1288G>C (p.Ala430Pro) c.1570G>C (p.Ala524Pro) c.263G>C (p.Cys88Ser) c.1246G>C (p.Ala416Pro) n.405G>C | |
| 3 | g.128481174C>T | CA354412849 | GATA2 | c.1288G>A (p.Ala430Thr) c.1570G>A (p.Ala524Thr) c.263G>A (p.Cys88Tyr) c.1246G>A (p.Ala416Thr) n.405G>A | |
| 3 | g.128481175A= | CA1400714074 | GATA2 | c.1287T= (p.Ser429=) c.1569T= (p.Ser523=) c.262T= (p.Cys88=) c.1245T= (p.Ser415=) n.404T= | |
| 3 | g.128481175A>C | CA354412851 | GATA2 | c.1287T>G (p.Ser429Arg) c.1569T>G (p.Ser523Arg) c.262T>G (p.Cys88Gly) c.1245T>G (p.Ser415Arg) n.404T>G | |
| 3 | g.128481175A>G | CA435524863 | GATA2 | c.1287T>C (p.Ser429=) c.1569T>C (p.Ser523=) c.262T>C (p.Cys88Arg) c.1245T>C (p.Ser415=) n.404T>C | ClinVar |
| 3 | g.128481175A>T | CA2599807 | GATA2 | c.1287T>A (p.Ser429Arg) c.1569T>A (p.Ser523Arg) c.262T>A (p.Cys88Ser) c.1245T>A (p.Ser415Arg) n.404T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481176C>A | CA354412853 | GATA2 | c.1286G>T (p.Ser429Ile) c.1568G>T (p.Ser523Ile) c.261G>T (p.Gln87His) c.1244G>T (p.Ser415Ile) n.403G>T | |
| 3 | g.128481176C= | CA1400714083 | GATA2 | c.1286G= (p.Ser429=) c.1568G= (p.Ser523=) c.261G= (p.Gln87=) c.1244G= (p.Ser415=) n.403G= | |
| 3 | g.128481176C>G | CA2599808 | GATA2 | c.1286G>C (p.Ser429Thr) c.1568G>C (p.Ser523Thr) c.261G>C (p.Gln87His) c.1244G>C (p.Ser415Thr) n.403G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481176C>T | CA354412856 | GATA2 | c.1286G>A (p.Ser429Asn) c.1568G>A (p.Ser523Asn) c.261G>A (p.Gln87=) c.1244G>A (p.Ser415Asn) n.403G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481177T>A | CA354412859 | GATA2 | c.1285A>T (p.Ser429Cys) c.1567A>T (p.Ser523Cys) c.260A>T (p.Gln87Leu) c.1243A>T (p.Ser415Cys) n.402A>T | |
| 3 | g.128481177T>C | CA354412861 | GATA2 | c.1285A>G (p.Ser429Gly) c.1567A>G (p.Ser523Gly) c.260A>G (p.Gln87Arg) c.1243A>G (p.Ser415Gly) n.402A>G | gnomAD v4 |
| 3 | g.128481177T>G | CA354412858 | GATA2 | c.1285A>C (p.Ser429Arg) c.1567A>C (p.Ser523Arg) c.260A>C (p.Gln87Pro) c.1243A>C (p.Ser415Arg) n.402A>C | |
| 3 | g.128481178G>A | CA435524870 | GATA2 | c.1284C>T (p.Phe428=) c.1566C>T (p.Phe522=) c.259C>T (p.Gln87Ter) c.1242C>T (p.Phe414=) n.401C>T | |
| 3 | g.128481178G>C | CA354412862 | GATA2 | c.1284C>G (p.Phe428Leu) c.1566C>G (p.Phe522Leu) c.259C>G (p.Gln87Glu) c.1242C>G (p.Phe414Leu) n.401C>G | |
| 3 | g.128481178G>T | CA354412864 | GATA2 | c.1284C>A (p.Phe428Leu) c.1566C>A (p.Phe522Leu) c.259C>A (p.Gln87Lys) c.1242C>A (p.Phe414Leu) n.401C>A | |
| 3 | g.128481179A>C | CA354412865 | GATA2 | c.1283T>G (p.Phe428Cys) c.1565T>G (p.Phe522Cys) c.258T>G (p.Leu86=) c.1241T>G (p.Phe414Cys) n.400T>G | |
| 3 | g.128481179A>G | CA354412866 | GATA2 | c.1283T>C (p.Phe428Ser) c.1565T>C (p.Phe522Ser) c.258T>C (p.Leu86=) c.1241T>C (p.Phe414Ser) n.400T>C | |
| 3 | g.128481179A>T | CA354412867 | GATA2 | c.1283T>A (p.Phe428Tyr) c.1565T>A (p.Phe522Tyr) c.258T>A (p.Leu86=) c.1241T>A (p.Phe414Tyr) n.400T>A | ClinVar |
| 3 | g.128481180A= | CA1400714094 | GATA2 | c.1282T= (p.Phe428=) c.1564T= (p.Phe522=) c.257T= (p.Leu86=) c.1240T= (p.Phe414=) n.399T= | |
| 3 | g.128481180A>C | CA354412869 | GATA2 | c.1282T>G (p.Phe428Val) c.1564T>G (p.Phe522Val) c.257T>G (p.Leu86Arg) c.1240T>G (p.Phe414Val) n.399T>G | |
| 3 | g.128481180A>G | CA354412871 | GATA2 | c.1282T>C (p.Phe428Leu) c.1564T>C (p.Phe522Leu) c.257T>C (p.Leu86Pro) c.1240T>C (p.Phe414Leu) n.399T>C | |
| 3 | g.128481180A>T | CA16611345 | GATA2 | c.1282T>A (p.Phe428Ile) c.1564T>A (p.Phe522Ile) c.257T>A (p.Leu86His) c.1240T>A (p.Phe414Ile) n.399T>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481181G>A | CA435524876 | GATA2 | c.1281C>T (p.Pro427=) c.1563C>T (p.Pro521=) c.256C>T (p.Leu86Phe) c.1239C>T (p.Pro413=) n.398C>T | ClinVar gnomAD v4 |
| 3 | g.128481181G>C | CA435524879 | GATA2 | c.1281C>G (p.Pro427=) c.1563C>G (p.Pro521=) c.256C>G (p.Leu86Val) c.1239C>G (p.Pro413=) n.398C>G | ClinVar dbSNP |
| 3 | g.128481181G>T | CA435524881 | GATA2 | c.1281C>A (p.Pro427=) c.1563C>A (p.Pro521=) c.256C>A (p.Leu86Ile) c.1239C>A (p.Pro413=) n.398C>A | |
| 3 | g.128481185dup | CA2499216425 | GATA2 | c.1281dup (p.Phe428LeufsTer?) c.1563dup (p.Phe522LeufsTer?) c.256dup (p.Leu86ProfsTer?) c.1239dup (p.Phe414LeufsTer?) n.398dup | ClinVar dbSNP |
| 3 | g.128481185del | CA435524882 | GATA2 | c.1281del (p.Phe428SerfsTer?) c.1563del (p.Phe522SerfsTer?) c.256del (p.Leu86PhefsTer?) c.1239del (p.Phe414SerfsTer?) n.398del | COSMIC |
| 3 | g.128481182G>A | CA354412873 | GATA2 | c.1280C>T (p.Pro427Leu) c.1562C>T (p.Pro521Leu) c.255C>T (p.Pro85=) c.1238C>T (p.Pro413Leu) n.397C>T | ClinVar |
| 3 | g.128481182G>C | CA354412874 | GATA2 | c.1280C>G (p.Pro427Arg) c.1562C>G (p.Pro521Arg) c.255C>G (p.Pro85=) c.1238C>G (p.Pro413Arg) n.397C>G | ClinVar dbSNP |
| 3 | g.128481182G= | CA1400714098 | GATA2 | c.1280C= (p.Pro427=) c.1562C= (p.Pro521=) c.255C= (p.Pro85=) c.1238C= (p.Pro413=) n.397C= | |
| 3 | g.128481182G>T | CA354412876 | GATA2 | c.1280C>A (p.Pro427His) c.1562C>A (p.Pro521His) c.255C>A (p.Pro85=) c.1238C>A (p.Pro413His) n.397C>A | |
| 3 | g.128481183G>A | CA354412879 | GATA2 | c.1279C>T (p.Pro427Ser) c.1561C>T (p.Pro521Ser) c.254C>T (p.Pro85Leu) c.1237C>T (p.Pro413Ser) n.396C>T | |
| 3 | g.128481183G>C | CA354412881 | GATA2 | c.1279C>G (p.Pro427Ala) c.1561C>G (p.Pro521Ala) c.254C>G (p.Pro85Arg) c.1237C>G (p.Pro413Ala) n.396C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481183G>T | CA354412878 | GATA2 | c.1279C>A (p.Pro427Thr) c.1561C>A (p.Pro521Thr) c.254C>A (p.Pro85His) c.1237C>A (p.Pro413Thr) n.396C>A | |
| 3 | g.128481184G>A | CA435524889 | GATA2 | c.1278C>T (p.Ser426=) c.1560C>T (p.Ser520=) c.253C>T (p.Pro85Ser) c.1236C>T (p.Ser412=) n.395C>T | dbSNP gnomAD v2 |
| 3 | g.128481184G>C | CA435524891 | GATA2 | c.1278C>G (p.Ser426=) c.1560C>G (p.Ser520=) c.253C>G (p.Pro85Ala) c.1236C>G (p.Ser412=) n.395C>G | |
| 3 | g.128481184G= | CA1400714103 | GATA2 | c.1278C= (p.Ser426=) c.1560C= (p.Ser520=) c.253C= (p.Pro85=) c.1236C= (p.Ser412=) n.395C= | |
| 3 | g.128481184G>T | CA435524893 | GATA2 | c.1278C>A (p.Ser426=) c.1560C>A (p.Ser520=) c.253C>A (p.Pro85Thr) c.1236C>A (p.Ser412=) n.395C>A | |
| 3 | g.128481185G>A | CA354412883 | GATA2 | c.1277C>T (p.Ser426Phe) c.1559C>T (p.Ser520Phe) c.252C>T (p.Ile84=) c.1235C>T (p.Ser412Phe) n.394C>T | |
| 3 | g.128481185G>C | CA354412884 | GATA2 | c.1277C>G (p.Ser426Cys) c.1559C>G (p.Ser520Cys) c.252C>G (p.Ile84Met) c.1235C>G (p.Ser412Cys) n.394C>G | |
| 3 | g.128481185G= | CA1400714105 | GATA2 | c.1277C= (p.Ser426=) c.1559C= (p.Ser520=) c.252C= (p.Ile84=) c.1235C= (p.Ser412=) n.394C= | |
| 3 | g.128481185G>T | CA354412886 | GATA2 | c.1277C>A (p.Ser426Tyr) c.1559C>A (p.Ser520Tyr) c.252C>A (p.Ile84=) c.1235C>A (p.Ser412Tyr) n.394C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481186A= | CA1400714108 | GATA2 | c.1276T= (p.Ser426=) c.1558T= (p.Ser520=) c.251T= (p.Ile84=) c.1234T= (p.Ser412=) n.393T= | |
| 3 | g.128481186A>C | CA354412887 | GATA2 | c.1276T>G (p.Ser426Ala) c.1558T>G (p.Ser520Ala) c.251T>G (p.Ile84Ser) c.1234T>G (p.Ser412Ala) n.393T>G | |
| 3 | g.128481186A>G | CA354412889 | GATA2 | c.1276T>C (p.Ser426Pro) c.1558T>C (p.Ser520Pro) c.251T>C (p.Ile84Thr) c.1234T>C (p.Ser412Pro) n.393T>C | ClinVar dbSNP |
| 3 | g.128481186A>T | CA354412890 | GATA2 | c.1276T>A (p.Ser426Thr) c.1558T>A (p.Ser520Thr) c.251T>A (p.Ile84Asn) c.1234T>A (p.Ser412Thr) n.393T>A | gnomAD v4 |
| 3 | g.128481187T>A | CA435524899 | GATA2 | c.1275A>T (p.Ser425=) c.1557A>T (p.Ser519=) c.250A>T (p.Ile84Phe) c.1233A>T (p.Ser411=) n.392A>T | |
| 3 | g.128481187T>C | CA435524901 | GATA2 | c.1275A>G (p.Ser425=) c.1557A>G (p.Ser519=) c.250A>G (p.Ile84Val) c.1233A>G (p.Ser411=) n.392A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481187T>G | CA435524902 | GATA2 | c.1275A>C (p.Ser425=) c.1557A>C (p.Ser519=) c.250A>C (p.Ile84Leu) c.1233A>C (p.Ser411=) n.392A>C | gnomAD v4 |
| 3 | g.128481187T= | CA1400714113 | GATA2 | c.1275A= (p.Ser425=) c.1557A= (p.Ser519=) c.250A= (p.Ile84=) c.1233A= (p.Ser411=) n.392A= | |
| 3 | g.128481188G>A | CA2599809 | GATA2 | c.1274C>T (p.Ser425Leu) c.1556C>T (p.Ser519Leu) c.249C>T (p.Val83=) c.1232C>T (p.Ser411Leu) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481188G>C | CA354412893 | GATA2 | c.1274C>G (p.Ser425Ter) c.1556C>G (p.Ser519Ter) c.249C>G (p.Val83=) c.1232C>G (p.Ser411Ter) n.391C>G | |
| 3 | g.128481188G= | CA1400714117 | GATA2 | c.1274C= (p.Ser425=) c.1556C= (p.Ser519=) c.249C= (p.Val83=) c.1232C= (p.Ser411=) n.391C= | |
| 3 | g.128481188G>T | CA354412892 | GATA2 | c.1274C>A (p.Ser425Ter) c.1556C>A (p.Ser519Ter) c.249C>A (p.Val83=) c.1232C>A (p.Ser411Ter) n.391C>A | |
| 3 | g.128481189A= | CA1400714125 | GATA2 | c.1273T= (p.Ser425=) c.1555T= (p.Ser519=) c.248T= (p.Val83=) c.1231T= (p.Ser411=) n.390T= | |
| 3 | g.128481189A>C | CA2599810 | GATA2 | c.1273T>G (p.Ser425Ala) c.1555T>G (p.Ser519Ala) c.248T>G (p.Val83Gly) c.1231T>G (p.Ser411Ala) n.390T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481189A>G | CA354412896 | GATA2 | c.1273T>C (p.Ser425Pro) c.1555T>C (p.Ser519Pro) c.248T>C (p.Val83Ala) c.1231T>C (p.Ser411Pro) n.390T>C | ClinVar dbSNP |
| 3 | g.128481189A>T | CA354412897 | GATA2 | c.1273T>A (p.Ser425Thr) c.1555T>A (p.Ser519Thr) c.248T>A (p.Val83Asp) c.1231T>A (p.Ser411Thr) n.390T>A | |
| 3 | g.128481190C>A | CA354412899 | GATA2 | c.1272G>T (p.Lys424Asn) c.1554G>T (p.Lys518Asn) c.247G>T (p.Val83Phe) c.1230G>T (p.Lys410Asn) n.389G>T | |
| 3 | g.128481190C>G | CA354412900 | GATA2 | c.1272G>C (p.Lys424Asn) c.1554G>C (p.Lys518Asn) c.247G>C (p.Val83Leu) c.1230G>C (p.Lys410Asn) n.389G>C | |
| 3 | g.128481190C>T | CA435524908 | GATA2 | c.1272G>A (p.Lys424=) c.1554G>A (p.Lys518=) c.247G>A (p.Val83Ile) c.1230G>A (p.Lys410=) n.389G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481191T>A | CA354412904 | GATA2 | c.1271A>T (p.Lys424Met) c.1553A>T (p.Lys518Met) c.246A>T (p.Glu82Asp) c.1229A>T (p.Lys410Met) n.388A>T | |
| 3 | g.128481191T>C | CA354412905 | GATA2 | c.1271A>G (p.Lys424Arg) c.1553A>G (p.Lys518Arg) c.246A>G (p.Glu82=) c.1229A>G (p.Lys410Arg) n.388A>G | |
| 3 | g.128481191T>G | CA354412902 | GATA2 | c.1271A>C (p.Lys424Thr) c.1553A>C (p.Lys518Thr) c.246A>C (p.Glu82Asp) c.1229A>C (p.Lys410Thr) n.388A>C | |
| 3 | g.128481192T>A | CA354412906 | GATA2 | c.1270A>T (p.Lys424Ter) c.1552A>T (p.Lys518Ter) c.245A>T (p.Glu82Val) c.1228A>T (p.Lys410Ter) n.387A>T | |
| 3 | g.128481192T>C | CA354412908 | GATA2 | c.1270A>G (p.Lys424Glu) c.1552A>G (p.Lys518Glu) c.245A>G (p.Glu82Gly) c.1228A>G (p.Lys410Glu) n.387A>G | |
| 3 | g.128481192T>G | CA354412909 | GATA2 | c.1270A>C (p.Lys424Gln) c.1552A>C (p.Lys518Gln) c.245A>C (p.Glu82Ala) c.1228A>C (p.Lys410Gln) n.387A>C | |
| 3 | g.128481192_128481195delinsTCTC | CA1400714130 | GATA2 | c.1267_1270delinsGAGA (p.Glu423=) c.1549_1552delinsGAGA (p.Glu517=) c.242_245delinsGAGA (p.Gly81=) c.1225_1228delinsGAGA (p.Glu409=) n.384_387delinsGAGA | |
| 3 | g.128481193C>A | CA354412911 | GATA2 | c.1269G>T (p.Glu423Asp) c.1551G>T (p.Glu517Asp) c.244G>T (p.Glu82Ter) c.1227G>T (p.Glu409Asp) n.386G>T | gnomAD v4 |
| 3 | g.128481193C= | CA1400714132 | GATA2 | c.1269G= (p.Glu423=) c.1551G= (p.Glu517=) c.244G= (p.Glu82=) c.1227G= (p.Glu409=) n.386G= | |
| 3 | g.128481193C>G | CA354412913 | GATA2 | c.1269G>C (p.Glu423Asp) c.1551G>C (p.Glu517Asp) c.244G>C (p.Glu82Gln) c.1227G>C (p.Glu409Asp) n.386G>C | ClinVar |
| 3 | g.128481193C>T | CA435524915 | GATA2 | c.1269G>A (p.Glu423=) c.1551G>A (p.Glu517=) c.244G>A (p.Glu82Lys) c.1227G>A (p.Glu409=) n.386G>A | dbSNP |
| 3 | g.128481195_128481197del | CA546415757 | GATA2 | c.1267_1269del (p.Glu423del) c.1549_1551del (p.Glu517del) c.242_244del (p.Gly81del) c.1225_1227del (p.Glu409del) n.384_386del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481194T>A | CA354412914 | GATA2 | c.1268A>T (p.Glu423Val) c.1550A>T (p.Glu517Val) c.243A>T (p.Gly81=) c.1226A>T (p.Glu409Val) n.385A>T | |
| 3 | g.128481194T>C | CA354412915 | GATA2 | c.1268A>G (p.Glu423Gly) c.1550A>G (p.Glu517Gly) c.243A>G (p.Gly81=) c.1226A>G (p.Glu409Gly) n.385A>G | |
| 3 | g.128481194T>G | CA354412917 | GATA2 | c.1268A>C (p.Glu423Ala) c.1550A>C (p.Glu517Ala) c.243A>C (p.Gly81=) c.1226A>C (p.Glu409Ala) n.385A>C | |
| 3 | g.128481195C>A | CA354412919 | GATA2 | c.1267G>T (p.Glu423Ter) c.1549G>T (p.Glu517Ter) c.242G>T (p.Gly81Val) c.1225G>T (p.Glu409Ter) n.384G>T | |
| 3 | g.128481195C= | CA1400714136 | GATA2 | c.1267G= (p.Glu423=) c.1549G= (p.Glu517=) c.242G= (p.Gly81=) c.1225G= (p.Glu409=) n.384G= | |
| 3 | g.128481195C>G | CA354412921 | GATA2 | c.1267G>C (p.Glu423Gln) c.1549G>C (p.Glu517Gln) c.242G>C (p.Gly81Ala) c.1225G>C (p.Glu409Gln) n.384G>C | |
| 3 | g.128481195C>T | CA2599811 | GATA2 | c.1267G>A (p.Glu423Lys) c.1549G>A (p.Glu517Lys) c.242G>A (p.Gly81Glu) c.1225G>A (p.Glu409Lys) n.384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481196del | CA2580068693 | GATA2 | c.1267del (p.Glu423ArgfsTer?) c.1549del (p.Glu517ArgfsTer?) c.242del (p.Gly81GlufsTer?) c.1225del (p.Glu409ArgfsTer?) n.384del | ClinVar |
| 3 | g.128481196C>A | CA354412923 | GATA2 | c.1266G>T (p.Gln422His) c.1548G>T (p.Gln516His) c.241G>T (p.Gly81Ter) c.1224G>T (p.Gln408His) n.383G>T | |
| 3 | g.128481196C= | CA1400714140 | GATA2 | c.1266G= (p.Gln422=) c.1548G= (p.Gln516=) c.241G= (p.Gly81=) c.1224G= (p.Gln408=) n.383G= | |
| 3 | g.128481196C>G | CA354412925 | GATA2 | c.1266G>C (p.Gln422His) c.1548G>C (p.Gln516His) c.241G>C (p.Gly81Arg) c.1224G>C (p.Gln408His) n.383G>C | |
| 3 | g.128481196C>T | CA83376267 | GATA2 | c.1266G>A (p.Gln422=) c.1548G>A (p.Gln516=) c.241G>A (p.Gly81Arg) c.1224G>A (p.Gln408=) n.383G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481197T>A | CA354412929 | GATA2 | c.1265A>T (p.Gln422Leu) c.1547A>T (p.Gln516Leu) c.240A>T (p.Ala80=) c.1223A>T (p.Gln408Leu) n.382A>T | gnomAD v4 |
| 3 | g.128481197T>C | CA354412927 | GATA2 | c.1265A>G (p.Gln422Arg) c.1547A>G (p.Gln516Arg) c.240A>G (p.Ala80=) c.1223A>G (p.Gln408Arg) n.382A>G | |
| 3 | g.128481197T>G | CA354412926 | GATA2 | c.1265A>C (p.Gln422Pro) c.1547A>C (p.Gln516Pro) c.240A>C (p.Ala80=) c.1223A>C (p.Gln408Pro) n.382A>C | |
| 3 | g.128481198G>A | CA354412930 | GATA2 | c.1264C>T (p.Gln422Ter) c.1546C>T (p.Gln516Ter) c.239C>T (p.Ala80Val) c.1222C>T (p.Gln408Ter) n.381C>T | |
| 3 | g.128481198G>C | CA354412931 | GATA2 | c.1264C>G (p.Gln422Glu) c.1546C>G (p.Gln516Glu) c.239C>G (p.Ala80Gly) c.1222C>G (p.Gln408Glu) n.381C>G | |
| 3 | g.128481198G>T | CA354412932 | GATA2 | c.1264C>A (p.Gln422Lys) c.1546C>A (p.Gln516Lys) c.239C>A (p.Ala80Glu) c.1222C>A (p.Gln408Lys) n.381C>A | |
| 3 | g.128481199C>A | CA354412934 | GATA2 | c.1263G>T (p.Met421Ile) c.1545G>T (p.Met515Ile) c.238G>T (p.Ala80Ser) c.1221G>T (p.Met407Ile) n.380G>T | |
| 3 | g.128481199C= | CA1400714146 | GATA2 | c.1263G= (p.Met421=) c.1545G= (p.Met515=) c.238G= (p.Ala80=) c.1221G= (p.Met407=) n.380G= | |
| 3 | g.128481199C>G | CA354412935 | GATA2 | c.1263G>C (p.Met421Ile) c.1545G>C (p.Met515Ile) c.238G>C (p.Ala80Pro) c.1221G>C (p.Met407Ile) n.380G>C | |
| 3 | g.128481199C>T | CA354412936 | GATA2 | c.1263G>A (p.Met421Ile) c.1545G>A (p.Met515Ile) c.238G>A (p.Ala80Thr) c.1221G>A (p.Met407Ile) n.380G>A | ClinVar dbSNP |
| 3 | g.128481200A= | CA1400714149 | GATA2 | c.1262T= (p.Met421=) c.1544T= (p.Met515=) c.237T= (p.His79=) c.1220T= (p.Met407=) n.379T= | |
| 3 | g.128481200A>C | CA354412938 | GATA2 | c.1262T>G (p.Met421Arg) c.1544T>G (p.Met515Arg) c.237T>G (p.His79Gln) c.1220T>G (p.Met407Arg) n.379T>G | |
| 3 | g.128481200A>G | CA354412940 | GATA2 | c.1262T>C (p.Met421Thr) c.1544T>C (p.Met515Thr) c.237T>C (p.His79=) c.1220T>C (p.Met407Thr) n.379T>C | dbSNP COSMIC |
| 3 | g.128481200A>T | CA354412942 | GATA2 | c.1262T>A (p.Met421Lys) c.1544T>A (p.Met515Lys) c.237T>A (p.His79Gln) c.1220T>A (p.Met407Lys) n.379T>A | |
| 3 | g.128481201T>A | CA354412943 | GATA2 | c.1261A>T (p.Met421Leu) c.1543A>T (p.Met515Leu) c.236A>T (p.His79Leu) c.1219A>T (p.Met407Leu) n.378A>T | ClinVar dbSNP |
| 3 | g.128481201T>C | CA2599812 | GATA2 | c.1261A>G (p.Met421Val) c.1543A>G (p.Met515Val) c.236A>G (p.His79Arg) c.1219A>G (p.Met407Val) n.378A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481201T>G | CA354412945 | GATA2 | c.1261A>C (p.Met421Leu) c.1543A>C (p.Met515Leu) c.236A>C (p.His79Pro) c.1219A>C (p.Met407Leu) n.378A>C | |
| 3 | g.128481201T= | CA1400714153 | GATA2 | c.1261A= (p.Met421=) c.1543A= (p.Met515=) c.236A= (p.His79=) c.1219A= (p.Met407=) n.378A= | |
| 3 | g.128481202G>A | CA435524935 | GATA2 | c.1260C>T (p.Cys420=) c.1542C>T (p.Cys514=) c.235C>T (p.His79Tyr) c.1218C>T (p.Cys406=) n.377C>T | |
| 3 | g.128481202G>C | CA354412947 | GATA2 | c.1260C>G (p.Cys420Trp) c.1542C>G (p.Cys514Trp) c.235C>G (p.His79Asp) c.1218C>G (p.Cys406Trp) n.377C>G | |
| 3 | g.128481202G>T | CA354412949 | GATA2 | c.1260C>A (p.Cys420Ter) c.1542C>A (p.Cys514Ter) c.235C>A (p.His79Asn) c.1218C>A (p.Cys406Ter) n.377C>A | |
| 3 | g.128481203C>A | CA354412950 | GATA2 | c.1259G>T (p.Cys420Phe) c.1541G>T (p.Cys514Phe) c.234G>T (p.Val78=) c.1217G>T (p.Cys406Phe) n.376G>T | |
| 3 | g.128481203C= | CA1400714157 | GATA2 | c.1259G= (p.Cys420=) c.1541G= (p.Cys514=) c.234G= (p.Val78=) c.1217G= (p.Cys406=) n.376G= | |
| 3 | g.128481203C>G | CA354412952 | GATA2 | c.1259G>C (p.Cys420Ser) c.1541G>C (p.Cys514Ser) c.234G>C (p.Val78=) c.1217G>C (p.Cys406Ser) n.376G>C | |
| 3 | g.128481203C>T | CA83376272 | GATA2 | c.1259G>A (p.Cys420Tyr) c.1541G>A (p.Cys514Tyr) c.234G>A (p.Val78=) c.1217G>A (p.Cys406Tyr) n.376G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481204A>C | CA354412954 | GATA2 | c.1258T>G (p.Cys420Gly) c.1540T>G (p.Cys514Gly) c.233T>G (p.Val78Gly) c.1216T>G (p.Cys406Gly) n.375T>G | ClinVar |
| 3 | g.128481204A>G | CA354412955 | GATA2 | c.1258T>C (p.Cys420Arg) c.1540T>C (p.Cys514Arg) c.233T>C (p.Val78Ala) c.1216T>C (p.Cys406Arg) n.375T>C | |
| 3 | g.128481204A>T | CA354412956 | GATA2 | c.1258T>A (p.Cys420Ser) c.1540T>A (p.Cys514Ser) c.233T>A (p.Val78Glu) c.1216T>A (p.Cys406Ser) n.375T>A | |
| 3 | g.128481205C>A | CA354412958 | GATA2 | c.1257G>T (p.Lys419Asn) c.1539G>T (p.Lys513Asn) c.232G>T (p.Val78Leu) c.1215G>T (p.Lys405Asn) n.374G>T | |
| 3 | g.128481205C>G | CA354412960 | GATA2 | c.1257G>C (p.Lys419Asn) c.1539G>C (p.Lys513Asn) c.232G>C (p.Val78Leu) c.1215G>C (p.Lys405Asn) n.374G>C | |
| 3 | g.128481205C>T | CA435524943 | GATA2 | c.1257G>A (p.Lys419=) c.1539G>A (p.Lys513=) c.232G>A (p.Val78Met) c.1215G>A (p.Lys405=) n.374G>A | |
| 3 | g.128481206T>A | CA354412964 | GATA2 | c.1256A>T (p.Lys419Met) c.1538A>T (p.Lys513Met) c.231A>T (p.Lys77Asn) c.1214A>T (p.Lys405Met) n.373A>T | |
| 3 | g.128481206T>C | CA354412963 | GATA2 | c.1256A>G (p.Lys419Arg) c.1538A>G (p.Lys513Arg) c.231A>G (p.Lys77=) c.1214A>G (p.Lys405Arg) n.373A>G | |
| 3 | g.128481206T>G | CA354412962 | GATA2 | c.1256A>C (p.Lys419Thr) c.1538A>C (p.Lys513Thr) c.231A>C (p.Lys77Asn) c.1214A>C (p.Lys405Thr) n.373A>C | |
| 3 | g.128481208dup | CA2667540267 | GATA2 | c.1256dup (p.Cys420ValfsTer?) c.1538dup (p.Cys514ValfsTer?) c.231dup (p.Val78SerfsTer?) c.1214dup (p.Cys406ValfsTer?) n.373dup | gnomAD v4 |
| 3 | g.128481207T>A | CA354412966 | GATA2 | c.1255A>T (p.Lys419Ter) c.1537A>T (p.Lys513Ter) c.230A>T (p.Lys77Ile) c.1213A>T (p.Lys405Ter) n.372A>T | |
| 3 | g.128481207T>C | CA354412968 | GATA2 | c.1255A>G (p.Lys419Glu) c.1537A>G (p.Lys513Glu) c.230A>G (p.Lys77Arg) c.1213A>G (p.Lys405Glu) n.372A>G | gnomAD v4 |
| 3 | g.128481207T>G | CA354412969 | GATA2 | c.1255A>C (p.Lys419Gln) c.1537A>C (p.Lys513Gln) c.230A>C (p.Lys77Thr) c.1213A>C (p.Lys405Gln) n.372A>C | |
| 3 | g.128481208T>A | CA435524948 | GATA2 | c.1254A>T (p.Ser418=) c.1536A>T (p.Ser512=) c.229A>T (p.Lys77Ter) c.1212A>T (p.Ser404=) n.371A>T | |
| 3 | g.128481208T>C | CA435524950 | GATA2 | c.1254A>G (p.Ser418=) c.1536A>G (p.Ser512=) c.229A>G (p.Lys77Glu) c.1212A>G (p.Ser404=) n.371A>G | ClinVar dbSNP |
| 3 | g.128481208T>G | CA435524951 | GATA2 | c.1254A>C (p.Ser418=) c.1536A>C (p.Ser512=) c.229A>C (p.Lys77Gln) c.1212A>C (p.Ser404=) n.371A>C | |
| 3 | g.128481209G>A | CA354412971 | GATA2 | c.1253C>T (p.Ser418Leu) c.1535C>T (p.Ser512Leu) c.228C>T (p.Val76=) c.1211C>T (p.Ser404Leu) n.370C>T | |
| 3 | g.128481209G>C | CA354412972 | GATA2 | c.1253C>G (p.Ser418Ter) c.1535C>G (p.Ser512Ter) c.228C>G (p.Val76=) c.1211C>G (p.Ser404Ter) n.370C>G | |
| 3 | g.128481209G>T | CA354412974 | GATA2 | c.1253C>A (p.Ser418Ter) c.1535C>A (p.Ser512Ter) c.228C>A (p.Val76=) c.1211C>A (p.Ser404Ter) n.370C>A | |
| 3 | g.128481210A>C | CA354412976 | GATA2 | c.1252T>G (p.Ser418Ala) c.1534T>G (p.Ser512Ala) c.227T>G (p.Val76Gly) c.1210T>G (p.Ser404Ala) n.369T>G | |
| 3 | g.128481210A>G | CA354412978 | GATA2 | c.1252T>C (p.Ser418Pro) c.1534T>C (p.Ser512Pro) c.227T>C (p.Val76Ala) c.1210T>C (p.Ser404Pro) n.369T>C | |
| 3 | g.128481210A>T | CA354412977 | GATA2 | c.1252T>A (p.Ser418Thr) c.1534T>A (p.Ser512Thr) c.227T>A (p.Val76Asp) c.1210T>A (p.Ser404Thr) n.369T>A | ClinVar gnomAD v4 |
| 3 | g.128481211C>A | CA435524956 | GATA2 | c.1251G>T (p.Leu417=) c.1533G>T (p.Leu511=) c.226G>T (p.Val76Phe) c.1209G>T (p.Leu403=) n.368G>T | |
| 3 | g.128481211C>G | CA435524957 | GATA2 | c.1251G>C (p.Leu417=) c.1533G>C (p.Leu511=) c.226G>C (p.Val76Leu) c.1209G>C (p.Leu403=) n.368G>C | |
| 3 | g.128481211C>T | CA435524959 | GATA2 | c.1251G>A (p.Leu417=) c.1533G>A (p.Leu511=) c.226G>A (p.Val76Ile) c.1209G>A (p.Leu403=) n.368G>A | gnomAD v4 |
| 3 | g.128481212A>C | CA354412980 | GATA2 | c.1250T>G (p.Leu417Arg) c.1532T>G (p.Leu511Arg) c.225T>G (p.Ala75=) c.1208T>G (p.Leu403Arg) n.367T>G | |
| 3 | g.128481212A>G | CA354412981 | GATA2 | c.1250T>C (p.Leu417Pro) c.1532T>C (p.Leu511Pro) c.225T>C (p.Ala75=) c.1208T>C (p.Leu403Pro) n.367T>C | ClinVar dbSNP |
| 3 | g.128481212A>T | CA354412983 | GATA2 | c.1250T>A (p.Leu417Gln) c.1532T>A (p.Leu511Gln) c.225T>A (p.Ala75=) c.1208T>A (p.Leu403Gln) n.367T>A | |
| 3 | g.128481213G>A | CA435524962 | GATA2 | c.1249C>T (p.Leu417=) c.1531C>T (p.Leu511=) c.224C>T (p.Ala75Val) c.1207C>T (p.Leu403=) n.366C>T | |
| 3 | g.128481213G>C | CA354412985 | GATA2 | c.1249C>G (p.Leu417Val) c.1531C>G (p.Leu511Val) c.224C>G (p.Ala75Gly) c.1207C>G (p.Leu403Val) n.366C>G | gnomAD v4 |
| 3 | g.128481213G>T | CA354412986 | GATA2 | c.1249C>A (p.Leu417Met) c.1531C>A (p.Leu511Met) c.224C>A (p.Ala75Asp) c.1207C>A (p.Leu403Met) n.366C>A | |
| 3 | g.128481214C>A | CA354412987 | GATA2 | c.1248G>T (p.Glu416Asp) c.1530G>T (p.Glu510Asp) c.223G>T (p.Ala75Ser) c.1206G>T (p.Glu402Asp) n.365G>T | |
| 3 | g.128481214C= | CA1400714162 | GATA2 | c.1248G= (p.Glu416=) c.1530G= (p.Glu510=) c.223G= (p.Ala75=) c.1206G= (p.Glu402=) n.365G= | |
| 3 | g.128481214C>G | CA354412989 | GATA2 | c.1248G>C (p.Glu416Asp) c.1530G>C (p.Glu510Asp) c.223G>C (p.Ala75Pro) c.1206G>C (p.Glu402Asp) n.365G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481214C>T | CA435524966 | GATA2 | c.1248G>A (p.Glu416=) c.1530G>A (p.Glu510=) c.223G>A (p.Ala75Thr) c.1206G>A (p.Glu402=) n.365G>A | ClinVar |
| 3 | g.128481215T>A | CA354412991 | GATA2 | c.1247A>T (p.Glu416Val) c.1529A>T (p.Glu510Val) c.222A>T (p.Gly74=) c.1205A>T (p.Glu402Val) n.364A>T | |
| 3 | g.128481215T>C | CA354412993 | GATA2 | c.1247A>G (p.Glu416Gly) c.1529A>G (p.Glu510Gly) c.222A>G (p.Gly74=) c.1205A>G (p.Glu402Gly) n.364A>G | |
| 3 | g.128481215T>G | CA354412994 | GATA2 | c.1247A>C (p.Glu416Ala) c.1529A>C (p.Glu510Ala) c.222A>C (p.Gly74=) c.1205A>C (p.Glu402Ala) n.364A>C | |
| 3 | g.128481215_128481216delinsAA | CA2580068695 | GATA2 | c.1246_1247delinsTT (p.Glu416Leu) c.1528_1529delinsTT (p.Glu510Leu) c.221_222delinsTT (p.Gly74Val) c.1204_1205delinsTT (p.Glu402Leu) n.363_364delinsTT | ClinVar |
| 3 | g.128481216C>A | CA354412996 | GATA2 | c.1246G>T (p.Glu416Ter) c.1528G>T (p.Glu510Ter) c.221G>T (p.Gly74Val) c.1204G>T (p.Glu402Ter) n.363G>T | |
| 3 | g.128481216C>G | CA354412999 | GATA2 | c.1246G>C (p.Glu416Gln) c.1528G>C (p.Glu510Gln) c.221G>C (p.Gly74Ala) c.1204G>C (p.Glu402Gln) n.363G>C | |
| 3 | g.128481216C>T | CA354412997 | GATA2 | c.1246G>A (p.Glu416Lys) c.1528G>A (p.Glu510Lys) c.221G>A (p.Gly74Glu) c.1204G>A (p.Glu402Lys) n.363G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481217C>A | CA354413001 | GATA2 | c.1245G>T (p.Glu415Asp) c.1527G>T (p.Glu509Asp) c.220G>T (p.Gly74Ter) c.1203G>T (p.Glu401Asp) n.362G>T | |
| 3 | g.128481217C>G | CA354413002 | GATA2 | c.1245G>C (p.Glu415Asp) c.1527G>C (p.Glu509Asp) c.220G>C (p.Gly74Arg) c.1203G>C (p.Glu401Asp) n.362G>C | |
| 3 | g.128481217C>T | CA435524972 | GATA2 | c.1245G>A (p.Glu415=) c.1527G>A (p.Glu509=) c.220G>A (p.Gly74Arg) c.1203G>A (p.Glu401=) n.362G>A | |
| 3 | g.128481218T>A | CA354413003 | GATA2 | c.1244A>T (p.Glu415Val) c.1526A>T (p.Glu509Val) c.219A>T (p.Arg73=) c.1202A>T (p.Glu401Val) n.361A>T | |
| 3 | g.128481218T>C | CA354413006 | GATA2 | c.1244A>G (p.Glu415Gly) c.1526A>G (p.Glu509Gly) c.219A>G (p.Arg73=) c.1202A>G (p.Glu401Gly) n.361A>G | |
| 3 | g.128481218T>G | CA354413004 | GATA2 | c.1244A>C (p.Glu415Ala) c.1526A>C (p.Glu509Ala) c.219A>C (p.Arg73=) c.1202A>C (p.Glu401Ala) n.361A>C | |
| 3 | g.128481219C>A | CA354413008 | GATA2 | c.1243G>T (p.Glu415Ter) c.1525G>T (p.Glu509Ter) c.218G>T (p.Arg73Leu) c.1201G>T (p.Glu401Ter) n.360G>T | |
| 3 | g.128481219C= | CA1400714166 | GATA2 | c.1243G= (p.Glu415=) c.1525G= (p.Glu509=) c.218G= (p.Arg73=) c.1201G= (p.Glu401=) n.360G= | |
| 3 | g.128481219C>G | CA354413011 | GATA2 | c.1243G>C (p.Glu415Gln) c.1525G>C (p.Glu509Gln) c.218G>C (p.Arg73Pro) c.1201G>C (p.Glu401Gln) n.360G>C | |
| 3 | g.128481219C>T | CA354413009 | GATA2 | c.1243G>A (p.Glu415Lys) c.1525G>A (p.Glu509Lys) c.218G>A (p.Arg73Gln) c.1201G>A (p.Glu401Lys) n.360G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481220G>A | CA2599813 | GATA2 | c.1242C>T (p.Phe414=) c.1524C>T (p.Phe508=) c.217C>T (p.Arg73Ter) c.1200C>T (p.Phe400=) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481220G>C | CA2599814 | GATA2 | c.1242C>G (p.Phe414Leu) c.1524C>G (p.Phe508Leu) c.217C>G (p.Arg73Gly) c.1200C>G (p.Phe400Leu) n.359C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.128481220G= | CA1400714172 | GATA2 | c.1242C= (p.Phe414=) c.1524C= (p.Phe508=) c.217C= (p.Arg73=) c.1200C= (p.Phe400=) n.359C= | |
| 3 | g.128481220G>T | CA354413013 | GATA2 | c.1242C>A (p.Phe414Leu) c.1524C>A (p.Phe508Leu) c.217C>A (p.Arg73=) c.1200C>A (p.Phe400Leu) n.359C>A | |
| 3 | g.128481221A>C | CA354413015 | GATA2 | c.1241T>G (p.Phe414Cys) c.1523T>G (p.Phe508Cys) c.216T>G (p.Leu72=) c.1199T>G (p.Phe400Cys) n.358T>G | |
| 3 | g.128481221A>G | CA354413018 | GATA2 | c.1241T>C (p.Phe414Ser) c.1523T>C (p.Phe508Ser) c.216T>C (p.Leu72=) c.1199T>C (p.Phe400Ser) n.358T>C | ClinVar |
| 3 | g.128481221A>T | CA354413017 | GATA2 | c.1241T>A (p.Phe414Tyr) c.1523T>A (p.Phe508Tyr) c.216T>A (p.Leu72=) c.1199T>A (p.Phe400Tyr) n.358T>A | |
| 3 | g.128481222A>C | CA354413020 | GATA2 | c.1240T>G (p.Phe414Val) c.1522T>G (p.Phe508Val) c.215T>G (p.Leu72Arg) c.1198T>G (p.Phe400Val) n.357T>G | |
| 3 | g.128481222A>G | CA354413023 | GATA2 | c.1240T>C (p.Phe414Leu) c.1522T>C (p.Phe508Leu) c.215T>C (p.Leu72Pro) c.1198T>C (p.Phe400Leu) n.357T>C | |
| 3 | g.128481222A>T | CA354413022 | GATA2 | c.1240T>A (p.Phe414Ile) c.1522T>A (p.Phe508Ile) c.215T>A (p.Leu72His) c.1198T>A (p.Phe400Ile) n.357T>A | |
| 3 | g.128481223G>A | CA435524985 | GATA2 | c.1239C>T (p.Cys413=) c.1521C>T (p.Cys507=) c.214C>T (p.Leu72Phe) c.1197C>T (p.Cys399=) n.356C>T | |
| 3 | g.128481223G>C | CA354413025 | GATA2 | c.1239C>G (p.Cys413Trp) c.1521C>G (p.Cys507Trp) c.214C>G (p.Leu72Val) c.1197C>G (p.Cys399Trp) n.356C>G | |
| 3 | g.128481223G>T | CA354413026 | GATA2 | c.1239C>A (p.Cys413Ter) c.1521C>A (p.Cys507Ter) c.214C>A (p.Leu72Ile) c.1197C>A (p.Cys399Ter) n.356C>A | |
| 3 | g.128481224C>A | CA354413028 | GATA2 | c.1238G>T (p.Cys413Phe) c.1520G>T (p.Cys507Phe) c.213G>T (p.Val71=) c.1196G>T (p.Cys399Phe) n.355G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481224C= | CA1400714177 | GATA2 | c.1238G= (p.Cys413=) c.1520G= (p.Cys507=) c.213G= (p.Val71=) c.1196G= (p.Cys399=) n.355G= | |
| 3 | g.128481224C>G | CA354413032 | GATA2 | c.1238G>C (p.Cys413Ser) c.1520G>C (p.Cys507Ser) c.213G>C (p.Val71=) c.1196G>C (p.Cys399Ser) n.355G>C | |
| 3 | g.128481224C>T | CA354413030 | GATA2 | c.1238G>A (p.Cys413Tyr) c.1520G>A (p.Cys507Tyr) c.213G>A (p.Val71=) c.1196G>A (p.Cys399Tyr) n.355G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481225A>C | CA354413033 | GATA2 | c.1237T>G (p.Cys413Gly) c.1519T>G (p.Cys507Gly) c.212T>G (p.Val71Gly) c.1195T>G (p.Cys399Gly) n.354T>G | |
| 3 | g.128481225A>G | CA354413036 | GATA2 | c.1237T>C (p.Cys413Arg) c.1519T>C (p.Cys507Arg) c.212T>C (p.Val71Ala) c.1195T>C (p.Cys399Arg) n.354T>C | |
| 3 | g.128481225A>T | CA354413034 | GATA2 | c.1237T>A (p.Cys413Ser) c.1519T>A (p.Cys507Ser) c.212T>A (p.Val71Glu) c.1195T>A (p.Cys399Ser) n.354T>A | |
| 3 | g.128481226C>A | CA354413038 | GATA2 | c.1236G>T (p.Glu412Asp) c.1518G>T (p.Glu506Asp) c.211G>T (p.Val71Leu) c.1194G>T (p.Glu398Asp) n.353G>T | ClinVar dbSNP |
| 3 | g.128481226C= | CA1400714180 | GATA2 | c.1236G= (p.Glu412=) c.1518G= (p.Glu506=) c.211G= (p.Val71=) c.1194G= (p.Glu398=) n.353G= | |
| 3 | g.128481226C>G | CA354413040 | GATA2 | c.1236G>C (p.Glu412Asp) c.1518G>C (p.Glu506Asp) c.211G>C (p.Val71Leu) c.1194G>C (p.Glu398Asp) n.353G>C | |
| 3 | g.128481226C>T | CA435524992 | GATA2 | c.1236G>A (p.Glu412=) c.1518G>A (p.Glu506=) c.211G>A (p.Val71Met) c.1194G>A (p.Glu398=) n.353G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481227T>A | CA354413041 | GATA2 | c.1235A>T (p.Glu412Val) c.1517A>T (p.Glu506Val) c.210A>T (p.Gly70=) c.1193A>T (p.Glu398Val) n.352A>T | |
| 3 | g.128481227T>C | CA354413043 | GATA2 | c.1235A>G (p.Glu412Gly) c.1517A>G (p.Glu506Gly) c.210A>G (p.Gly70=) c.1193A>G (p.Glu398Gly) n.352A>G | |
| 3 | g.128481227T>G | CA354413045 | GATA2 | c.1235A>C (p.Glu412Ala) c.1517A>C (p.Glu506Ala) c.210A>C (p.Gly70=) c.1193A>C (p.Glu398Ala) n.352A>C | |
| 3 | g.128481228C>A | CA354413046 | GATA2 | c.1234G>T (p.Glu412Ter) c.1516G>T (p.Glu506Ter) c.209G>T (p.Gly70Val) c.1192G>T (p.Glu398Ter) n.351G>T | |
| 3 | g.128481228C>G | CA354413047 | GATA2 | c.1234G>C (p.Glu412Gln) c.1516G>C (p.Glu506Gln) c.209G>C (p.Gly70Ala) c.1192G>C (p.Glu398Gln) n.351G>C | |
| 3 | g.128481228C>T | CA354413048 | GATA2 | c.1234G>A (p.Glu412Lys) c.1516G>A (p.Glu506Lys) c.209G>A (p.Gly70Glu) c.1192G>A (p.Glu398Lys) n.351G>A | gnomAD v4 |
| 3 | g.128481229C>A | CA435524997 | GATA2 | c.1233G>T (p.Ala411=) c.1515G>T (p.Ala505=) c.208G>T (p.Gly70Ter) c.1191G>T (p.Ala397=) n.350G>T | |
| 3 | g.128481229C= | CA1400714184 | GATA2 | c.1233G= (p.Ala411=) c.1515G= (p.Ala505=) c.208G= (p.Gly70=) c.1191G= (p.Ala397=) n.350G= | |
| 3 | g.128481229C>G | CA435524999 | GATA2 | c.1233G>C (p.Ala411=) c.1515G>C (p.Ala505=) c.208G>C (p.Gly70Arg) c.1191G>C (p.Ala397=) n.350G>C | |
| 3 | g.128481229C>T | CA2599815 | GATA2 | c.1233G>A (p.Ala411=) c.1515G>A (p.Ala505=) c.208G>A (p.Gly70Arg) c.1191G>A (p.Ala397=) n.350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481230G>A | CA2599816 | GATA2 | c.1232C>T (p.Ala411Val) c.1514C>T (p.Ala505Val) c.207C>T (p.Gly69=) c.1190C>T (p.Ala397Val) n.349C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481230G>C | CA354413051 | GATA2 | c.1232C>G (p.Ala411Gly) c.1514C>G (p.Ala505Gly) c.207C>G (p.Gly69=) c.1190C>G (p.Ala397Gly) n.349C>G | |
| 3 | g.128481230G= | CA1400714193 | GATA2 | c.1232C= (p.Ala411=) c.1514C= (p.Ala505=) c.207C= (p.Gly69=) c.1190C= (p.Ala397=) n.349C= | |
| 3 | g.128481230G>T | CA354413053 | GATA2 | c.1232C>A (p.Ala411Glu) c.1514C>A (p.Ala505Glu) c.207C>A (p.Gly69=) c.1190C>A (p.Ala397Glu) n.349C>A | ClinVar dbSNP |
| 3 | g.128481231C>A | CA354413058 | GATA2 | c.1231G>T (p.Ala411Ser) c.1513G>T (p.Ala505Ser) c.206G>T (p.Gly69Val) c.1189G>T (p.Ala397Ser) n.348G>T | |
| 3 | g.128481231C= | CA1400714198 | GATA2 | c.1231G= (p.Ala411=) c.1513G= (p.Ala505=) c.206G= (p.Gly69=) c.1189G= (p.Ala397=) n.348G= | |
| 3 | g.128481231C>G | CA354413056 | GATA2 | c.1231G>C (p.Ala411Pro) c.1513G>C (p.Ala505Pro) c.206G>C (p.Gly69Ala) c.1189G>C (p.Ala397Pro) n.348G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481231C>T | CA354413054 | GATA2 | c.1231G>A (p.Ala411Thr) c.1513G>A (p.Ala505Thr) c.206G>A (p.Gly69Asp) c.1189G>A (p.Ala397Thr) n.348G>A | gnomAD v4 |
| 3 | g.128481232C>A | CA435525004 | GATA2 | c.1230G>T (p.Gly410=) c.1512G>T (p.Gly504=) c.205G>T (p.Gly69Cys) c.1188G>T (p.Gly396=) n.347G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481232C= | CA1400714201 | GATA2 | c.1230G= (p.Gly410=) c.1512G= (p.Gly504=) c.205G= (p.Gly69=) c.1188G= (p.Gly396=) n.347G= | |
| 3 | g.128481232C>G | CA435525005 | GATA2 | c.1230G>C (p.Gly410=) c.1512G>C (p.Gly504=) c.205G>C (p.Gly69Arg) c.1188G>C (p.Gly396=) n.347G>C | |
| 3 | g.128481232C>T | CA435525007 | GATA2 | c.1230G>A (p.Gly410=) c.1512G>A (p.Gly504=) c.205G>A (p.Gly69Ser) c.1188G>A (p.Gly396=) n.347G>A | ClinVar dbSNP |
| 3 | g.128481233C>A | CA354413059 | GATA2 | c.1229G>T (p.Gly410Val) c.1511G>T (p.Gly504Val) c.204G>T (p.Arg68Ser) c.1187G>T (p.Gly396Val) n.346G>T | |
| 3 | g.128481233C>G | CA354413061 | GATA2 | c.1229G>C (p.Gly410Ala) c.1511G>C (p.Gly504Ala) c.204G>C (p.Arg68Ser) c.1187G>C (p.Gly396Ala) n.346G>C | |
| 3 | g.128481233C>T | CA354413063 | GATA2 | c.1229G>A (p.Gly410Glu) c.1511G>A (p.Gly504Glu) c.204G>A (p.Arg68=) c.1187G>A (p.Gly396Glu) n.346G>A | gnomAD v4 |
| 3 | g.128481234C>A | CA354413064 | GATA2 | c.1228G>T (p.Gly410Trp) c.1510G>T (p.Gly504Trp) c.203G>T (p.Arg68Met) c.1186G>T (p.Gly396Trp) n.345G>T | |
| 3 | g.128481234C= | CA1400714204 | GATA2 | c.1228G= (p.Gly410=) c.1510G= (p.Gly504=) c.203G= (p.Arg68=) c.1186G= (p.Gly396=) n.345G= | |
| 3 | g.128481234C>G | CA354413066 | GATA2 | c.1228G>C (p.Gly410Arg) c.1510G>C (p.Gly504Arg) c.203G>C (p.Arg68Thr) c.1186G>C (p.Gly396Arg) n.345G>C | |
| 3 | g.128481234C>T | CA354413067 | GATA2 | c.1228G>A (p.Gly410Arg) c.1510G>A (p.Gly504Arg) c.203G>A (p.Arg68Lys) c.1186G>A (p.Gly396Arg) n.345G>A | dbSNP gnomAD v2 |
| 3 | g.128481235T>A | CA354413069 | GATA2 | c.1227A>T (p.Lys409Asn) c.1509A>T (p.Lys503Asn) c.202A>T (p.Arg68Trp) c.1185A>T (p.Lys395Asn) n.344A>T | |
| 3 | g.128481235T>C | CA435525012 | GATA2 | c.1227A>G (p.Lys409=) c.1509A>G (p.Lys503=) c.202A>G (p.Arg68Gly) c.1185A>G (p.Lys395=) n.344A>G | |
| 3 | g.128481235T>G | CA354413070 | GATA2 | c.1227A>C (p.Lys409Asn) c.1509A>C (p.Lys503Asn) c.202A>C (p.Arg68=) c.1185A>C (p.Lys395Asn) n.344A>C | |
| 3 | g.128481236T>A | CA354413072 | GATA2 | c.1226A>T (p.Lys409Ile) c.1508A>T (p.Lys503Ile) c.201A>T (p.Glu67Asp) c.1184A>T (p.Lys395Ile) n.343A>T | |
| 3 | g.128481236T>C | CA354413074 | GATA2 | c.1226A>G (p.Lys409Arg) c.1508A>G (p.Lys503Arg) c.201A>G (p.Glu67=) c.1184A>G (p.Lys395Arg) n.343A>G | dbSNP |
| 3 | g.128481236T>G | CA354413075 | GATA2 | c.1226A>C (p.Lys409Thr) c.1508A>C (p.Lys503Thr) c.201A>C (p.Glu67Asp) c.1184A>C (p.Lys395Thr) n.343A>C | |
| 3 | g.128481236T= | CA1400714206 | GATA2 | c.1226A= (p.Lys409=) c.1508A= (p.Lys503=) c.201A= (p.Glu67=) c.1184A= (p.Lys395=) n.343A= | |
| 3 | g.128481237T>A | CA354413083 | GATA2 | c.1225A>T (p.Lys409Ter) c.1507A>T (p.Lys503Ter) c.200A>T (p.Glu67Val) c.1183A>T (p.Lys395Ter) n.342A>T | |
| 3 | g.128481237T>C | CA354413081 | GATA2 | c.1225A>G (p.Lys409Glu) c.1507A>G (p.Lys503Glu) c.200A>G (p.Glu67Gly) c.1183A>G (p.Lys395Glu) n.342A>G | |
| 3 | g.128481237T>G | CA354413077 | GATA2 | c.1225A>C (p.Lys409Gln) c.1507A>C (p.Lys503Gln) c.200A>C (p.Glu67Ala) c.1183A>C (p.Lys395Gln) n.342A>C | |
| 3 | g.128481238C>A | CA354413084 | GATA2 | c.1224G>T (p.Lys408Asn) c.1506G>T (p.Lys502Asn) c.199G>T (p.Glu67Ter) c.1182G>T (p.Lys394Asn) n.341G>T | |
| 3 | g.128481238C>G | CA354413085 | GATA2 | c.1224G>C (p.Lys408Asn) c.1506G>C (p.Lys502Asn) c.199G>C (p.Glu67Gln) c.1182G>C (p.Lys394Asn) n.341G>C | |
| 3 | g.128481238C>T | CA435525019 | GATA2 | c.1224G>A (p.Lys408=) c.1506G>A (p.Lys502=) c.199G>A (p.Glu67Lys) c.1182G>A (p.Lys394=) n.341G>A | |
| 3 | g.128481239T>A | CA354413087 | GATA2 | c.1223A>T (p.Lys408Met) c.1505A>T (p.Lys502Met) c.198A>T (p.Gln66His) c.1181A>T (p.Lys394Met) n.340A>T | |
| 3 | g.128481239T>C | CA354413089 | GATA2 | c.1223A>G (p.Lys408Arg) c.1505A>G (p.Lys502Arg) c.198A>G (p.Gln66=) c.1181A>G (p.Lys394Arg) n.340A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481239T>G | CA354413091 | GATA2 | c.1223A>C (p.Lys408Thr) c.1505A>C (p.Lys502Thr) c.198A>C (p.Gln66His) c.1181A>C (p.Lys394Thr) n.340A>C | |
| 3 | g.128481240T>A | CA354413092 | GATA2 | c.1222A>T (p.Lys408Ter) c.1504A>T (p.Lys502Ter) c.197A>T (p.Gln66Leu) c.1180A>T (p.Lys394Ter) n.339A>T | |
| 3 | g.128481240T>C | CA354413093 | GATA2 | c.1222A>G (p.Lys408Glu) c.1504A>G (p.Lys502Glu) c.197A>G (p.Gln66Arg) c.1180A>G (p.Lys394Glu) n.339A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481240T>G | CA354413095 | GATA2 | c.1222A>C (p.Lys408Gln) c.1504A>C (p.Lys502Gln) c.197A>C (p.Gln66Pro) c.1180A>C (p.Lys394Gln) n.339A>C | |
| 3 | g.128481240T= | CA1400714210 | GATA2 | c.1222A= (p.Lys408=) c.1504A= (p.Lys502=) c.197A= (p.Gln66=) c.1180A= (p.Lys394=) n.339A= | |
| 3 | g.128481241G>A | CA435525025 | GATA2 | c.1221C>T (p.Ser407=) c.1503C>T (p.Ser501=) c.196C>T (p.Gln66Ter) c.1179C>T (p.Ser393=) n.338C>T | |
| 3 | g.128481241G>C | CA354413097 | GATA2 | c.1221C>G (p.Ser407Arg) c.1503C>G (p.Ser501Arg) c.196C>G (p.Gln66Glu) c.1179C>G (p.Ser393Arg) n.338C>G | |
| 3 | g.128481241G= | CA1400714213 | GATA2 | c.1221C= (p.Ser407=) c.1503C= (p.Ser501=) c.196C= (p.Gln66=) c.1179C= (p.Ser393=) n.338C= | |
| 3 | g.128481241G>T | CA354413098 | GATA2 | c.1221C>A (p.Ser407Arg) c.1503C>A (p.Ser501Arg) c.196C>A (p.Gln66Lys) c.1179C>A (p.Ser393Arg) n.338C>A | ClinVar dbSNP |
| 3 | g.128481242C>A | CA354413100 | GATA2 | c.1220G>T (p.Ser407Ile) c.1502G>T (p.Ser501Ile) c.195G>T (p.Glu65Asp) c.1178G>T (p.Ser393Ile) n.337G>T | |
| 3 | g.128481242C= | CA1400714215 | GATA2 | c.1220G= (p.Ser407=) c.1502G= (p.Ser501=) c.195G= (p.Glu65=) c.1178G= (p.Ser393=) n.337G= | |
| 3 | g.128481242C>G | CA354413102 | GATA2 | c.1220G>C (p.Ser407Thr) c.1502G>C (p.Ser501Thr) c.195G>C (p.Glu65Asp) c.1178G>C (p.Ser393Thr) n.337G>C | |
| 3 | g.128481242C>T | CA354413103 | GATA2 | c.1220G>A (p.Ser407Asn) c.1502G>A (p.Ser501Asn) c.195G>A (p.Glu65=) c.1178G>A (p.Ser393Asn) n.337G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481243T>A | CA354413105 | GATA2 | c.1219A>T (p.Ser407Cys) c.1501A>T (p.Ser501Cys) c.194A>T (p.Glu65Val) c.1177A>T (p.Ser393Cys) n.336A>T | |
| 3 | g.128481243T>C | CA354413108 | GATA2 | c.1219A>G (p.Ser407Gly) c.1501A>G (p.Ser501Gly) c.194A>G (p.Glu65Gly) c.1177A>G (p.Ser393Gly) n.336A>G | |
| 3 | g.128481243T>G | CA354413106 | GATA2 | c.1219A>C (p.Ser407Arg) c.1501A>C (p.Ser501Arg) c.194A>C (p.Glu65Ala) c.1177A>C (p.Ser393Arg) n.336A>C | |
| 3 | g.128481244C>A | CA354413113 | GATA2 | c.1218G>T (p.Lys406Asn) c.1500G>T (p.Lys500Asn) c.193G>T (p.Glu65Ter) c.1176G>T (p.Lys392Asn) n.335G>T | |
| 3 | g.128481244C>G | CA354413115 | GATA2 | c.1218G>C (p.Lys406Asn) c.1500G>C (p.Lys500Asn) c.193G>C (p.Glu65Gln) c.1176G>C (p.Lys392Asn) n.335G>C | |
| 3 | g.128481244C>T | CA435525033 | GATA2 | c.1218G>A (p.Lys406=) c.1500G>A (p.Lys500=) c.193G>A (p.Glu65Lys) c.1176G>A (p.Lys392=) n.335G>A |