| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 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 | |
| 3 | g.128481245T>A | CA2599817 | GATA2 | c.1217A>T (p.Lys406Met) c.1499A>T (p.Lys500Met) c.192A>T (p.Glu64Asp) c.1175A>T (p.Lys392Met) n.334A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481245T>C | CA354413118 | GATA2 | c.1217A>G (p.Lys406Arg) c.1499A>G (p.Lys500Arg) c.192A>G (p.Glu64=) c.1175A>G (p.Lys392Arg) n.334A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481245T>G | CA354413119 | GATA2 | c.1217A>C (p.Lys406Thr) c.1499A>C (p.Lys500Thr) c.192A>C (p.Glu64Asp) c.1175A>C (p.Lys392Thr) n.334A>C | |
| 3 | g.128481245T= | CA1400714222 | GATA2 | c.1217A= (p.Lys406=) c.1499A= (p.Lys500=) c.192A= (p.Glu64=) c.1175A= (p.Lys392=) n.334A= | |
| 3 | g.128481246del | CA2580068696 | GATA2 | c.1217del (p.Lys406ArgfsTer?) c.1499del (p.Lys500ArgfsTer?) c.192del (p.Glu65SerfsTer?) c.1175del (p.Lys392ArgfsTer?) n.334del | ClinVar |
| 3 | g.128481246T>A | CA354413121 | GATA2 | c.1216A>T (p.Lys406Ter) c.1498A>T (p.Lys500Ter) c.191A>T (p.Glu64Val) c.1174A>T (p.Lys392Ter) n.333A>T | |
| 3 | g.128481246T>C | CA354413122 | GATA2 | c.1216A>G (p.Lys406Glu) c.1498A>G (p.Lys500Glu) c.191A>G (p.Glu64Gly) c.1174A>G (p.Lys392Glu) n.333A>G | |
| 3 | g.128481246T>G | CA354413123 | GATA2 | c.1216A>C (p.Lys406Gln) c.1498A>C (p.Lys500Gln) c.191A>C (p.Glu64Ala) c.1174A>C (p.Lys392Gln) n.333A>C | ClinVar dbSNP |
| 3 | g.128481246T= | CA1400714226 | GATA2 | c.1216A= (p.Lys406=) c.1498A= (p.Lys500=) c.191A= (p.Glu64=) c.1174A= (p.Lys392=) n.333A= | |
| 3 | g.128481246_128481262dup | CA2499216426 | GATA2 | c.1200_1216dup (p.Lys406SerfsTer?) c.1482_1498dup (p.Lys500SerfsTer?) c.175_191dup (p.Glu65SerfsTer?) c.1158_1174dup (p.Lys392SerfsTer?) n.317_333dup | ClinVar dbSNP |
| 3 | g.128481247C>A | CA2599819 | GATA2 | c.1215G>T (p.Lys405Asn) c.1497G>T (p.Lys499Asn) c.190G>T (p.Glu64Ter) c.1173G>T (p.Lys391Asn) n.332G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481247C= | CA1400714229 | GATA2 | c.1215G= (p.Lys405=) c.1497G= (p.Lys499=) c.190G= (p.Glu64=) c.1173G= (p.Lys391=) n.332G= | |
| 3 | g.128481247C>G | CA2599818 | GATA2 | c.1215G>C (p.Lys405Asn) c.1497G>C (p.Lys499Asn) c.190G>C (p.Glu64Gln) c.1173G>C (p.Lys391Asn) n.332G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481247C>T | CA435525039 | GATA2 | c.1215G>A (p.Lys405=) c.1497G>A (p.Lys499=) c.190G>A (p.Glu64Lys) c.1173G>A (p.Lys391=) n.332G>A | dbSNP |
| 3 | g.128481248T>A | CA354413128 | GATA2 | c.1214A>T (p.Lys405Met) c.1496A>T (p.Lys499Met) c.189A>T (p.Gln63His) c.1172A>T (p.Lys391Met) n.331A>T | |
| 3 | g.128481248T>C | CA2599820 | GATA2 | c.1214A>G (p.Lys405Arg) c.1496A>G (p.Lys499Arg) c.189A>G (p.Gln63=) c.1172A>G (p.Lys391Arg) n.331A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481248T>G | CA354413126 | GATA2 | c.1214A>C (p.Lys405Thr) c.1496A>C (p.Lys499Thr) c.189A>C (p.Gln63His) c.1172A>C (p.Lys391Thr) n.331A>C | |
| 3 | g.128481248T= | CA1400714232 | GATA2 | c.1214A= (p.Lys405=) c.1496A= (p.Lys499=) c.189A= (p.Gln63=) c.1172A= (p.Lys391=) n.331A= | |
| 3 | g.128481249T>A | CA354413130 | GATA2 | c.1213A>T (p.Lys405Ter) c.1495A>T (p.Lys499Ter) c.188A>T (p.Gln63Leu) c.1171A>T (p.Lys391Ter) n.330A>T | |
| 3 | g.128481249T>C | CA354413132 | GATA2 | c.1213A>G (p.Lys405Glu) c.1495A>G (p.Lys499Glu) c.188A>G (p.Gln63Arg) c.1171A>G (p.Lys391Glu) n.330A>G | gnomAD v4 |
| 3 | g.128481249T>G | CA354413133 | GATA2 | c.1213A>C (p.Lys405Gln) c.1495A>C (p.Lys499Gln) c.188A>C (p.Gln63Pro) c.1171A>C (p.Lys391Gln) n.330A>C | |
| 3 | g.128481250G>A | CA435525045 | GATA2 | c.1212C>T (p.Ser404=) c.1494C>T (p.Ser498=) c.187C>T (p.Gln63Ter) c.1170C>T (p.Ser390=) n.329C>T | ClinVar dbSNP |
| 3 | g.128481250G>C | CA435525047 | GATA2 | c.1212C>G (p.Ser404=) c.1494C>G (p.Ser498=) c.187C>G (p.Gln63Glu) c.1170C>G (p.Ser390=) n.329C>G | |
| 3 | g.128481250G>T | CA435525048 | GATA2 | c.1212C>A (p.Ser404=) c.1494C>A (p.Ser498=) c.187C>A (p.Gln63Lys) c.1170C>A (p.Ser390=) n.329C>A | |
| 3 | g.128481251G>A | CA354413135 | GATA2 | c.1211C>T (p.Ser404Phe) c.1493C>T (p.Ser498Phe) c.186C>T (p.Val62=) c.1169C>T (p.Ser390Phe) n.328C>T | |
| 3 | g.128481251G>C | CA354413137 | GATA2 | c.1211C>G (p.Ser404Cys) c.1493C>G (p.Ser498Cys) c.186C>G (p.Val62=) c.1169C>G (p.Ser390Cys) n.328C>G | |
| 3 | g.128481251G>T | CA354413139 | GATA2 | c.1211C>A (p.Ser404Tyr) c.1493C>A (p.Ser498Tyr) c.186C>A (p.Val62=) c.1169C>A (p.Ser390Tyr) n.328C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481252A>C | CA354413145 | GATA2 | c.1210T>G (p.Ser404Ala) c.1492T>G (p.Ser498Ala) c.185T>G (p.Val62Gly) c.1168T>G (p.Ser390Ala) n.327T>G | |
| 3 | g.128481252A>G | CA354413142 | GATA2 | c.1210T>C (p.Ser404Pro) c.1492T>C (p.Ser498Pro) c.185T>C (p.Val62Ala) c.1168T>C (p.Ser390Pro) n.327T>C | ClinVar dbSNP |
| 3 | g.128481252A>T | CA354413143 | GATA2 | c.1210T>A (p.Ser404Thr) c.1492T>A (p.Ser498Thr) c.185T>A (p.Val62Asp) c.1168T>A (p.Ser390Thr) n.327T>A | |
| 3 | g.128481253C>A | CA354413146 | GATA2 | c.1209G>T (p.Lys403Asn) c.1491G>T (p.Lys497Asn) c.184G>T (p.Val62Phe) c.1167G>T (p.Lys389Asn) n.326G>T | |
| 3 | g.128481253C= | CA1400714235 | GATA2 | c.1209G= (p.Lys403=) c.1491G= (p.Lys497=) c.184G= (p.Val62=) c.1167G= (p.Lys389=) n.326G= | |
| 3 | g.128481253C>G | CA354413147 | GATA2 | c.1209G>C (p.Lys403Asn) c.1491G>C (p.Lys497Asn) c.184G>C (p.Val62Leu) c.1167G>C (p.Lys389Asn) n.326G>C | |
| 3 | g.128481253C>T | CA435525054 | GATA2 | c.1209G>A (p.Lys403=) c.1491G>A (p.Lys497=) c.184G>A (p.Val62Ile) c.1167G>A (p.Lys389=) n.326G>A | dbSNP gnomAD v4 |
| 3 | g.128481254T>A | CA354413150 | GATA2 | c.1208A>T (p.Lys403Met) c.1490A>T (p.Lys497Met) c.183A>T (p.Gln61His) c.1166A>T (p.Lys389Met) n.325A>T | |
| 3 | g.128481254T>C | CA354413151 | GATA2 | c.1208A>G (p.Lys403Arg) c.1490A>G (p.Lys497Arg) c.183A>G (p.Gln61=) c.1166A>G (p.Lys389Arg) n.325A>G | |
| 3 | g.128481254T>G | CA354413152 | GATA2 | c.1208A>C (p.Lys403Thr) c.1490A>C (p.Lys497Thr) c.183A>C (p.Gln61His) c.1166A>C (p.Lys389Thr) n.325A>C | |
| 3 | g.128481255T>A | CA354413154 | GATA2 | c.1207A>T (p.Lys403Ter) c.1489A>T (p.Lys497Ter) c.182A>T (p.Gln61Leu) c.1165A>T (p.Lys389Ter) n.324A>T | |
| 3 | g.128481255T>C | CA354413157 | GATA2 | c.1207A>G (p.Lys403Glu) c.1489A>G (p.Lys497Glu) c.182A>G (p.Gln61Arg) c.1165A>G (p.Lys389Glu) n.324A>G | dbSNP |
| 3 | g.128481255T>G | CA354413155 | GATA2 | c.1207A>C (p.Lys403Gln) c.1489A>C (p.Lys497Gln) c.182A>C (p.Gln61Pro) c.1165A>C (p.Lys389Gln) n.324A>C | |
| 3 | g.128481255T= | CA1400714237 | GATA2 | c.1207A= (p.Lys403=) c.1489A= (p.Lys497=) c.182A= (p.Gln61=) c.1165A= (p.Lys389=) n.324A= | |
| 3 | g.128481256G>A | CA2599821 | GATA2 | c.1206C>T (p.Asn402=) c.1488C>T (p.Asn496=) c.181C>T (p.Gln61Ter) c.1164C>T (p.Asn388=) n.323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481256G>C | CA354413160 | GATA2 | c.1206C>G (p.Asn402Lys) c.1488C>G (p.Asn496Lys) c.181C>G (p.Gln61Glu) c.1164C>G (p.Asn388Lys) n.323C>G | |
| 3 | g.128481256G= | CA1400714240 | GATA2 | c.1206C= (p.Asn402=) c.1488C= (p.Asn496=) c.181C= (p.Gln61=) c.1164C= (p.Asn388=) n.323C= | |
| 3 | g.128481256G>T | CA354413161 | GATA2 | c.1206C>A (p.Asn402Lys) c.1488C>A (p.Asn496Lys) c.181C>A (p.Gln61Lys) c.1164C>A (p.Asn388Lys) n.323C>A | |
| 3 | g.128481257T>A | CA354413162 | GATA2 | c.1205A>T (p.Asn402Ile) c.1487A>T (p.Asn496Ile) c.180A>T (p.Gln60His) c.1163A>T (p.Asn388Ile) n.322A>T | |
| 3 | g.128481257T>C | CA2599822 | GATA2 | c.1205A>G (p.Asn402Ser) c.1487A>G (p.Asn496Ser) c.180A>G (p.Gln60=) c.1163A>G (p.Asn388Ser) n.322A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481257T>G | CA354413163 | GATA2 | c.1205A>C (p.Asn402Thr) c.1487A>C (p.Asn496Thr) c.180A>C (p.Gln60His) c.1163A>C (p.Asn388Thr) n.322A>C | |
| 3 | g.128481257T= | CA1400714249 | GATA2 | c.1205A= (p.Asn402=) c.1487A= (p.Asn496=) c.180A= (p.Gln60=) c.1163A= (p.Asn388=) n.322A= | |
| 3 | g.128481258T>A | CA354413165 | GATA2 | c.1204A>T (p.Asn402Tyr) c.1486A>T (p.Asn496Tyr) c.179A>T (p.Gln60Leu) c.1162A>T (p.Asn388Tyr) n.321A>T | |
| 3 | g.128481258T>C | CA354413166 | GATA2 | c.1204A>G (p.Asn402Asp) c.1486A>G (p.Asn496Asp) c.179A>G (p.Gln60Arg) c.1162A>G (p.Asn388Asp) n.321A>G | |
| 3 | g.128481258T>G | CA354413168 | GATA2 | c.1204A>C (p.Asn402His) c.1486A>C (p.Asn496His) c.179A>C (p.Gln60Pro) c.1162A>C (p.Asn388His) n.321A>C | COSMIC |
| 3 | g.128481259G>A | CA435525066 | GATA2 | c.1203C>T (p.Ser401=) c.1485C>T (p.Ser495=) c.178C>T (p.Gln60Ter) c.1161C>T (p.Ser387=) n.320C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481259G>C | CA435525067 | GATA2 | c.1203C>G (p.Ser401=) c.1485C>G (p.Ser495=) c.178C>G (p.Gln60Glu) c.1161C>G (p.Ser387=) n.320C>G | |
| 3 | g.128481259G= | CA1400714254 | GATA2 | c.1203C= (p.Ser401=) c.1485C= (p.Ser495=) c.178C= (p.Gln60=) c.1161C= (p.Ser387=) n.320C= | |
| 3 | g.128481259G>T | CA435525068 | GATA2 | c.1203C>A (p.Ser401=) c.1485C>A (p.Ser495=) c.178C>A (p.Gln60Lys) c.1161C>A (p.Ser387=) n.320C>A | |
| 3 | g.128481260G>A | CA354413170 | GATA2 | c.1202C>T (p.Ser401Phe) c.1484C>T (p.Ser495Phe) c.177C>T (p.Val59=) c.1160C>T (p.Ser387Phe) n.319C>T | |
| 3 | g.128481260G>C | CA354413174 | GATA2 | c.1202C>G (p.Ser401Cys) c.1484C>G (p.Ser495Cys) c.177C>G (p.Val59=) c.1160C>G (p.Ser387Cys) n.319C>G | ClinVar |
| 3 | g.128481260G>T | CA354413176 | GATA2 | c.1202C>A (p.Ser401Tyr) c.1484C>A (p.Ser495Tyr) c.177C>A (p.Val59=) c.1160C>A (p.Ser387Tyr) n.319C>A | |
| 3 | g.128481261A>C | CA354413178 | GATA2 | c.1201T>G (p.Ser401Ala) c.1483T>G (p.Ser495Ala) c.176T>G (p.Val59Gly) c.1159T>G (p.Ser387Ala) n.318T>G | |
| 3 | g.128481261A>G | CA354413181 | GATA2 | c.1201T>C (p.Ser401Pro) c.1483T>C (p.Ser495Pro) c.176T>C (p.Val59Ala) c.1159T>C (p.Ser387Pro) n.318T>C | |
| 3 | g.128481261A>T | CA354413180 | GATA2 | c.1201T>A (p.Ser401Thr) c.1483T>A (p.Ser495Thr) c.176T>A (p.Val59Asp) c.1159T>A (p.Ser387Thr) n.318T>A | |
| 3 | g.128481262C>A | CA354413183 | GATA2 | c.1200G>T (p.Met400Ile) c.1482G>T (p.Met494Ile) c.175G>T (p.Val59Phe) c.1158G>T (p.Met386Ile) n.317G>T | |
| 3 | g.128481262C= | CA1400714257 | GATA2 | c.1200G= (p.Met400=) c.1482G= (p.Met494=) c.175G= (p.Val59=) c.1158G= (p.Met386=) n.317G= | |
| 3 | g.128481262C>G | CA354413185 | GATA2 | c.1200G>C (p.Met400Ile) c.1482G>C (p.Met494Ile) c.175G>C (p.Val59Leu) c.1158G>C (p.Met386Ile) n.317G>C | |
| 3 | g.128481262C>T | CA16611352 | GATA2 | c.1200G>A (p.Met400Ile) c.1482G>A (p.Met494Ile) c.175G>A (p.Val59Ile) c.1158G>A (p.Met386Ile) n.317G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481263A>C | CA354413187 | GATA2 | c.1199T>G (p.Met400Arg) c.1481T>G (p.Met494Arg) c.174T>G (p.Asp58Glu) c.1157T>G (p.Met386Arg) n.316T>G | |
| 3 | g.128481263A>G | CA354413188 | GATA2 | c.1199T>C (p.Met400Thr) c.1481T>C (p.Met494Thr) c.174T>C (p.Asp58=) c.1157T>C (p.Met386Thr) n.316T>C | ClinVar dbSNP |
| 3 | g.128481263A>T | CA354413189 | GATA2 | c.1199T>A (p.Met400Lys) c.1481T>A (p.Met494Lys) c.174T>A (p.Asp58Glu) c.1157T>A (p.Met386Lys) n.316T>A | |
| 3 | g.128481264T>A | CA354413192 | GATA2 | c.1198A>T (p.Met400Leu) c.1480A>T (p.Met494Leu) c.173A>T (p.Asp58Val) c.1156A>T (p.Met386Leu) n.315A>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481264T>C | CA354413194 | GATA2 | c.1198A>G (p.Met400Val) c.1480A>G (p.Met494Val) c.173A>G (p.Asp58Gly) c.1156A>G (p.Met386Val) n.315A>G | gnomAD v4 |
| 3 | g.128481264T>G | CA354413195 | GATA2 | c.1198A>C (p.Met400Leu) c.1480A>C (p.Met494Leu) c.173A>C (p.Asp58Ala) c.1156A>C (p.Met386Leu) n.315A>C | dbSNP |
| 3 | g.128481264T= | CA1400714265 | GATA2 | c.1198A= (p.Met400=) c.1480A= (p.Met494=) c.173A= (p.Asp58=) c.1156A= (p.Met386=) n.315A= | |
| 3 | g.128481264_128481619del | CA2499216427 | GATA2 | c.1143+200_1198del c.1425+200_1480del c.126+200_173del c.1101+200_1156del n.260+200_315del | ClinVar dbSNP |
| 3 | g.128481265C>A | CA83376298 | GATA2 | c.1197G>T (p.Lys399Asn) c.1479G>T (p.Lys493Asn) c.172G>T (p.Asp58Tyr) c.1155G>T (p.Lys385Asn) n.314G>T | ClinVar dbSNP |
| 3 | g.128481265C= | CA1400714271 | GATA2 | c.1197G= (p.Lys399=) c.1479G= (p.Lys493=) c.172G= (p.Asp58=) c.1155G= (p.Lys385=) n.314G= | |
| 3 | g.128481265C>G | CA354413197 | GATA2 | c.1197G>C (p.Lys399Asn) c.1479G>C (p.Lys493Asn) c.172G>C (p.Asp58His) c.1155G>C (p.Lys385Asn) n.314G>C | |
| 3 | g.128481265C>T | CA435525079 | GATA2 | c.1197G>A (p.Lys399=) c.1479G>A (p.Lys493=) c.172G>A (p.Asp58Asn) c.1155G>A (p.Lys385=) n.314G>A | COSMIC |
| 3 | g.128481265_128481266insCT | CA2740090988 | GATA2 | c.1196_1197insAG (p.Met400GlyfsTer?) c.1478_1479insAG (p.Met494GlyfsTer?) c.171_172insAG (p.Asp58ArgfsTer?) c.1154_1155insAG (p.Met386GlyfsTer?) n.313_314insAG | ClinVar |
| 3 | g.128481266T>A | CA354413203 | GATA2 | c.1196A>T (p.Lys399Met) c.1478A>T (p.Lys493Met) c.171A>T (p.Glu57Asp) c.1154A>T (p.Lys385Met) n.313A>T | |
| 3 | g.128481266T>C | CA354413201 | GATA2 | c.1196A>G (p.Lys399Arg) c.1478A>G (p.Lys493Arg) c.171A>G (p.Glu57=) c.1154A>G (p.Lys385Arg) n.313A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481266T>G | CA354413200 | GATA2 | c.1196A>C (p.Lys399Thr) c.1478A>C (p.Lys493Thr) c.171A>C (p.Glu57Asp) c.1154A>C (p.Lys385Thr) n.313A>C | |
| 3 | g.128481266T= | CA1400714274 | GATA2 | c.1196A= (p.Lys399=) c.1478A= (p.Lys493=) c.171A= (p.Glu57=) c.1154A= (p.Lys385=) n.313A= | |
| 3 | g.128481267T>A | CA354413205 | GATA2 | c.1195A>T (p.Lys399Ter) c.1477A>T (p.Lys493Ter) c.170A>T (p.Glu57Val) c.1153A>T (p.Lys385Ter) n.312A>T | |
| 3 | g.128481267T>C | CA354413206 | GATA2 | c.1195A>G (p.Lys399Glu) c.1477A>G (p.Lys493Glu) c.170A>G (p.Glu57Gly) c.1153A>G (p.Lys385Glu) n.312A>G | |
| 3 | g.128481267T>G | CA354413208 | GATA2 | c.1195A>C (p.Lys399Gln) c.1477A>C (p.Lys493Gln) c.170A>C (p.Glu57Ala) c.1153A>C (p.Lys385Gln) n.312A>C | |
| 3 | g.128481268C>A | CA435525084 | GATA2 | c.1194G>T (p.Arg398=) c.1476G>T (p.Arg492=) c.169G>T (p.Glu57Ter) c.1152G>T (p.Arg384=) n.311G>T | |
| 3 | g.128481268C= | CA1400714278 | GATA2 | c.1194G= (p.Arg398=) c.1476G= (p.Arg492=) c.169G= (p.Glu57=) c.1152G= (p.Arg384=) n.311G= | |
| 3 | g.128481268C>G | CA435525086 | GATA2 | c.1194G>C (p.Arg398=) c.1476G>C (p.Arg492=) c.169G>C (p.Glu57Gln) c.1152G>C (p.Arg384=) n.311G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481268C>T | CA435525088 | GATA2 | c.1194G>A (p.Arg398=) c.1476G>A (p.Arg492=) c.169G>A (p.Glu57Lys) c.1152G>A (p.Arg384=) n.311G>A | ClinVar |
| 3 | g.128481269C>A | CA354413209 | GATA2 | c.1193G>T (p.Arg398Leu) c.1475G>T (p.Arg492Leu) c.168G>T (p.Pro56=) c.1151G>T (p.Arg384Leu) n.310G>T | |
| 3 | g.128481269C= | CA1400714284 | GATA2 | c.1193G= (p.Arg398=) c.1475G= (p.Arg492=) c.168G= (p.Pro56=) c.1151G= (p.Arg384=) n.310G= | |
| 3 | g.128481269C>G | CA354413211 | GATA2 | c.1193G>C (p.Arg398Pro) c.1475G>C (p.Arg492Pro) c.168G>C (p.Pro56=) c.1151G>C (p.Arg384Pro) n.310G>C | |
| 3 | g.128481269C>T | CA354413213 | GATA2 | c.1193G>A (p.Arg398Gln) c.1475G>A (p.Arg492Gln) c.168G>A (p.Pro56=) c.1151G>A (p.Arg384Gln) n.310G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481270G>A | CA128572 | GATA2 | c.1192C>T (p.Arg398Trp) c.1474C>T (p.Arg492Trp) c.167C>T (p.Pro56Leu) c.1150C>T (p.Arg384Trp) n.309C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481270G>C | CA354413214 | GATA2 | c.1192C>G (p.Arg398Gly) c.1474C>G (p.Arg492Gly) c.167C>G (p.Pro56Arg) c.1150C>G (p.Arg384Gly) n.309C>G | ClinVar |
| 3 | g.128481270G= | CA1400714294 | GATA2 | c.1192C= (p.Arg398=) c.1474C= (p.Arg492=) c.167C= (p.Pro56=) c.1150C= (p.Arg384=) n.309C= | |
| 3 | g.128481270G>T | CA435525093 | GATA2 | c.1192C>A (p.Arg398=) c.1474C>A (p.Arg492=) c.167C>A (p.Pro56Gln) c.1150C>A (p.Arg384=) n.309C>A | |
| 3 | g.128481271G>A | CA435525094 | GATA2 | c.1191C>T (p.Asn397=) c.1473C>T (p.Asn491=) c.166C>T (p.Pro56Ser) c.1149C>T (p.Asn383=) n.308C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481271G>C | CA354413217 | GATA2 | c.1191C>G (p.Asn397Lys) c.1473C>G (p.Asn491Lys) c.166C>G (p.Pro56Ala) c.1149C>G (p.Asn383Lys) n.308C>G | |
| 3 | g.128481271G= | CA1400714298 | GATA2 | c.1191C= (p.Asn397=) c.1473C= (p.Asn491=) c.166C= (p.Pro56=) c.1149C= (p.Asn383=) n.308C= | |
| 3 | g.128481271G>T | CA354413219 | GATA2 | c.1191C>A (p.Asn397Lys) c.1473C>A (p.Asn491Lys) c.166C>A (p.Pro56Thr) c.1149C>A (p.Asn383Lys) n.308C>A | |
| 3 | g.128481272T>A | CA354413220 | GATA2 | c.1190A>T (p.Asn397Ile) c.1472A>T (p.Asn491Ile) c.165A>T (p.Glu55Asp) c.1148A>T (p.Asn383Ile) n.307A>T | |
| 3 | g.128481272T>C | CA354413222 | GATA2 | c.1190A>G (p.Asn397Ser) c.1472A>G (p.Asn491Ser) c.165A>G (p.Glu55=) c.1148A>G (p.Asn383Ser) n.307A>G | |
| 3 | g.128481272T>G | CA354413223 | GATA2 | c.1190A>C (p.Asn397Thr) c.1472A>C (p.Asn491Thr) c.165A>C (p.Glu55Asp) c.1148A>C (p.Asn383Thr) n.307A>C | |
| 3 | g.128481273T>A | CA354413225 | GATA2 | c.1189A>T (p.Asn397Tyr) c.1471A>T (p.Asn491Tyr) c.164A>T (p.Glu55Val) c.1147A>T (p.Asn383Tyr) n.306A>T | |
| 3 | g.128481273T>C | CA354413227 | GATA2 | c.1189A>G (p.Asn397Asp) c.1471A>G (p.Asn491Asp) c.164A>G (p.Glu55Gly) c.1147A>G (p.Asn383Asp) n.306A>G | |
| 3 | g.128481273T>G | CA354413224 | GATA2 | c.1189A>C (p.Asn397His) c.1471A>C (p.Asn491His) c.164A>C (p.Glu55Ala) c.1147A>C (p.Asn383His) n.306A>C | |
| 3 | g.128481274C>A | CA435525101 | GATA2 | c.1188G>T (p.Arg396=) c.1470G>T (p.Arg490=) c.163G>T (p.Glu55Ter) c.1146G>T (p.Arg382=) n.305G>T | gnomAD v4 |
| 3 | g.128481274C>G | CA435525102 | GATA2 | c.1188G>C (p.Arg396=) c.1470G>C (p.Arg490=) c.163G>C (p.Glu55Gln) c.1146G>C (p.Arg382=) n.305G>C | |
| 3 | g.128481274C>T | CA435525104 | GATA2 | c.1188G>A (p.Arg396=) c.1470G>A (p.Arg490=) c.163G>A (p.Glu55Lys) c.1146G>A (p.Arg382=) n.305G>A | ClinVar gnomAD v4 |
| 3 | g.128481275C>A | CA354413235 | GATA2 | c.1187G>T (p.Arg396Leu) c.1469G>T (p.Arg490Leu) c.162G>T (p.Ser54=) c.1145G>T (p.Arg382Leu) n.304G>T | ClinVar dbSNP COSMIC |
| 3 | g.128481275C= | CA1400714302 | GATA2 | c.1187G= (p.Arg396=) c.1469G= (p.Arg490=) c.162G= (p.Ser54=) c.1145G= (p.Arg382=) n.304G= | |
| 3 | g.128481275C>G | CA354413232 | GATA2 | c.1187G>C (p.Arg396Pro) c.1469G>C (p.Arg490Pro) c.162G>C (p.Ser54=) c.1145G>C (p.Arg382Pro) n.304G>C | |
| 3 | g.128481275C>T | CA354413234 | GATA2 | c.1187G>A (p.Arg396Gln) c.1469G>A (p.Arg490Gln) c.162G>A (p.Ser54=) c.1145G>A (p.Arg382Gln) n.304G>A | ClinVar dbSNP COSMIC |
| 3 | g.128481276G>A | CA354413236 | GATA2 | c.1186C>T (p.Arg396Trp) c.1468C>T (p.Arg490Trp) c.161C>T (p.Ser54Leu) c.1144C>T (p.Arg382Trp) n.303C>T | ClinVar dbSNP |
| 3 | g.128481276G>C | CA354413238 | GATA2 | c.1186C>G (p.Arg396Gly) c.1468C>G (p.Arg490Gly) c.161C>G (p.Ser54Trp) c.1144C>G (p.Arg382Gly) n.303C>G | ClinVar dbSNP |
| 3 | g.128481276G= | CA1400714309 | GATA2 | c.1186C= (p.Arg396=) c.1468C= (p.Arg490=) c.161C= (p.Ser54=) c.1144C= (p.Arg382=) n.303C= | |
| 3 | g.128481276G>T | CA435525110 | GATA2 | c.1186C>A (p.Arg396=) c.1468C>A (p.Arg490=) c.161C>A (p.Ser54Ter) c.1144C>A (p.Arg382=) n.303C>A | |
| 3 | g.128481277A= | CA1400714321 | GATA2 | c.1185T= (p.Thr395=) c.1467T= (p.Thr489=) c.160T= (p.Ser54=) c.1143T= (p.Thr381=) n.302T= | |
| 3 | g.128481277A>C | CA435525111 | GATA2 | c.1185T>G (p.Thr395=) c.1467T>G (p.Thr489=) c.160T>G (p.Ser54Ala) c.1143T>G (p.Thr381=) n.302T>G | ClinVar COSMIC |
| 3 | g.128481277A>G | CA2599823 | GATA2 | c.1185T>C (p.Thr395=) c.1467T>C (p.Thr489=) c.160T>C (p.Ser54Pro) c.1143T>C (p.Thr381=) n.302T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481277A>T | CA435525113 | GATA2 | c.1185T>A (p.Thr395=) c.1467T>A (p.Thr489=) c.160T>A (p.Ser54Thr) c.1143T>A (p.Thr381=) n.302T>A | |
| 3 | g.128481278G>A | CA354413240 | GATA2 | c.1184C>T (p.Thr395Ile) c.1466C>T (p.Thr489Ile) c.159C>T (p.Asp53=) c.1142C>T (p.Thr381Ile) n.301C>T | |
| 3 | g.128481278G>C | CA354413241 | GATA2 | c.1184C>G (p.Thr395Ser) c.1466C>G (p.Thr489Ser) c.159C>G (p.Asp53Glu) c.1142C>G (p.Thr381Ser) n.301C>G | |
| 3 | g.128481278G>T | CA354413243 | GATA2 | c.1184C>A (p.Thr395Asn) c.1466C>A (p.Thr489Asn) c.159C>A (p.Asp53Glu) c.1142C>A (p.Thr381Asn) n.301C>A | |
| 3 | g.128481279T>A | CA354413245 | GATA2 | c.1183A>T (p.Thr395Ser) c.1465A>T (p.Thr489Ser) c.158A>T (p.Asp53Val) c.1141A>T (p.Thr381Ser) n.300A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481279T>C | CA354413246 | GATA2 | c.1183A>G (p.Thr395Ala) c.1465A>G (p.Thr489Ala) c.158A>G (p.Asp53Gly) c.1141A>G (p.Thr381Ala) n.300A>G | |
| 3 | g.128481279T>G | CA354413249 | GATA2 | c.1183A>C (p.Thr395Pro) c.1465A>C (p.Thr489Pro) c.158A>C (p.Asp53Ala) c.1141A>C (p.Thr381Pro) n.300A>C | |
| 3 | g.128481279T= | CA1400714328 | GATA2 | c.1183A= (p.Thr395=) c.1465A= (p.Thr489=) c.158A= (p.Asp53=) c.1141A= (p.Thr381=) n.300A= | |
| 3 | g.128481280C>A | CA354413250 | GATA2 | c.1182G>T (p.Gln394His) c.1464G>T (p.Gln488His) c.157G>T (p.Asp53Tyr) c.1140G>T (p.Gln380His) n.299G>T | |
| 3 | g.128481280C>G | CA354413252 | GATA2 | c.1182G>C (p.Gln394His) c.1464G>C (p.Gln488His) c.157G>C (p.Asp53His) c.1140G>C (p.Gln380His) n.299G>C | |
| 3 | g.128481280C>T | CA435525120 | GATA2 | c.1182G>A (p.Gln394=) c.1464G>A (p.Gln488=) c.157G>A (p.Asp53Asn) c.1140G>A (p.Gln380=) n.299G>A | |
| 3 | g.128481282_128481293del | CA2573136504 | GATA2 | c.1171_1182del (p.Glu391_Gln394del) c.1453_1464del (p.Glu485_Gln488del) c.146_157del (p.Gly49_Pro52del) c.1129_1140del (p.Glu377_Gln380del) n.288_299del | ClinVar dbSNP |
| 3 | g.128481280_128481296delinsCTGGATCCCTTCCTTCT | CA1400714331 | GATA2 | c.1166_1182delinsAGAAGGAAGGGATCCAG (p.Lys389=) c.1448_1464delinsAGAAGGAAGGGATCCAG (p.Lys483=) c.141_157delinsAGAAGGAAGGGATCCAG (p.Glu47=) c.1124_1140delinsAGAAGGAAGGGATCCAG (p.Lys375=) n.283_299delinsAGAAGGAAGGGATCCAG | |
| 3 | g.128481281T>A | CA354413256 | GATA2 | c.1181A>T (p.Gln394Leu) c.1463A>T (p.Gln488Leu) c.156A>T (p.Pro52=) c.1139A>T (p.Gln380Leu) n.298A>T | |
| 3 | g.128481281T>C | CA354413255 | GATA2 | c.1181A>G (p.Gln394Arg) c.1463A>G (p.Gln488Arg) c.156A>G (p.Pro52=) c.1139A>G (p.Gln380Arg) n.298A>G | |
| 3 | g.128481281T>G | CA354413253 | GATA2 | c.1181A>C (p.Gln394Pro) c.1463A>C (p.Gln488Pro) c.156A>C (p.Pro52=) c.1139A>C (p.Gln380Pro) n.298A>C | |
| 3 | g.128481281_128481296delinsCATG | CA1139532296 | GATA2 | c.1166_1181delinsCATG (p.Lys389_Gln394delinsThrTrp) c.1448_1463delinsCATG (p.Lys483_Gln488delinsThrTrp) c.141_156delinsCATG (p.Glu47_Pro52delinsAspMet) c.1124_1139delinsCATG (p.Lys375_Gln380delinsThrTrp) n.283_298delinsCATG | ClinVar dbSNP |
| 3 | g.128481282G>A | CA354413258 | GATA2 | c.1180C>T (p.Gln394Ter) c.1462C>T (p.Gln488Ter) c.155C>T (p.Pro52Leu) c.1138C>T (p.Gln380Ter) n.297C>T | ClinVar |
| 3 | g.128481282G>C | CA354413262 | GATA2 | c.1180C>G (p.Gln394Glu) c.1462C>G (p.Gln488Glu) c.155C>G (p.Pro52Arg) c.1138C>G (p.Gln380Glu) n.297C>G | |
| 3 | g.128481282G>T | CA354413264 | GATA2 | c.1180C>A (p.Gln394Lys) c.1462C>A (p.Gln488Lys) c.155C>A (p.Pro52Gln) c.1138C>A (p.Gln380Lys) n.297C>A | |
| 3 | g.128481283G>A | CA435525126 | GATA2 | c.1179C>T (p.Ile393=) c.1461C>T (p.Ile487=) c.154C>T (p.Pro52Ser) c.1137C>T (p.Ile379=) n.296C>T | dbSNP |
| 3 | g.128481283G>C | CA354413265 | GATA2 | c.1179C>G (p.Ile393Met) c.1461C>G (p.Ile487Met) c.154C>G (p.Pro52Ala) c.1137C>G (p.Ile379Met) n.296C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481283G= | CA1400714340 | GATA2 | c.1179C= (p.Ile393=) c.1461C= (p.Ile487=) c.154C= (p.Pro52=) c.1137C= (p.Ile379=) n.296C= | |
| 3 | g.128481283G>T | CA435525127 | GATA2 | c.1179C>A (p.Ile393=) c.1461C>A (p.Ile487=) c.154C>A (p.Pro52Thr) c.1137C>A (p.Ile379=) n.296C>A | |
| 3 | g.128481284A= | CA1400714344 | GATA2 | c.1178T= (p.Ile393=) c.1460T= (p.Ile487=) c.153T= (p.Asp51=) c.1136T= (p.Ile379=) n.295T= | |
| 3 | g.128481284A>C | CA354413271 | GATA2 | c.1178T>G (p.Ile393Ser) c.1460T>G (p.Ile487Ser) c.153T>G (p.Asp51Glu) c.1136T>G (p.Ile379Ser) n.295T>G | |
| 3 | g.128481284A>G | CA354413273 | GATA2 | c.1178T>C (p.Ile393Thr) c.1460T>C (p.Ile487Thr) c.153T>C (p.Asp51=) c.1136T>C (p.Ile379Thr) n.295T>C | ClinVar dbSNP |
| 3 | g.128481284A>T | CA354413275 | GATA2 | c.1178T>A (p.Ile393Asn) c.1460T>A (p.Ile487Asn) c.153T>A (p.Asp51Glu) c.1136T>A (p.Ile379Asn) n.295T>A | |
| 3 | g.128481285T>A | CA354413280 | GATA2 | c.1177A>T (p.Ile393Phe) c.1459A>T (p.Ile487Phe) c.152A>T (p.Asp51Val) c.1135A>T (p.Ile379Phe) n.294A>T | |
| 3 | g.128481285T>C | CA354413282 | GATA2 | c.1177A>G (p.Ile393Val) c.1459A>G (p.Ile487Val) c.152A>G (p.Asp51Gly) c.1135A>G (p.Ile379Val) n.294A>G | |
| 3 | g.128481285T>G | CA354413284 | GATA2 | c.1177A>C (p.Ile393Leu) c.1459A>C (p.Ile487Leu) c.152A>C (p.Asp51Ala) c.1135A>C (p.Ile379Leu) n.294A>C | ClinVar |
| 3 | g.128481286C>A | CA435525135 | GATA2 | c.1176G>T (p.Gly392=) c.1458G>T (p.Gly486=) c.151G>T (p.Asp51Tyr) c.1134G>T (p.Gly378=) n.293G>T | |
| 3 | g.128481286C>G | CA435525137 | GATA2 | c.1176G>C (p.Gly392=) c.1458G>C (p.Gly486=) c.151G>C (p.Asp51His) c.1134G>C (p.Gly378=) n.293G>C | |
| 3 | g.128481286C>T | CA435525139 | GATA2 | c.1176G>A (p.Gly392=) c.1458G>A (p.Gly486=) c.151G>A (p.Asp51Asn) c.1134G>A (p.Gly378=) n.293G>A | COSMIC |
| 3 | g.128481288del | CA2695202304 | GATA2 | c.1176del (p.Ile393SerfsTer?) c.1458del (p.Ile487SerfsTer?) c.151del (p.Asp51IlefsTer?) c.1134del (p.Ile379SerfsTer?) n.293del | |
| 3 | g.128481287C>A | CA354413286 | GATA2 | c.1175G>T (p.Gly392Val) c.1457G>T (p.Gly486Val) c.150G>T (p.Arg50Ser) c.1133G>T (p.Gly378Val) n.292G>T | |
| 3 | g.128481287C>G | CA354413288 | GATA2 | c.1175G>C (p.Gly392Ala) c.1457G>C (p.Gly486Ala) c.150G>C (p.Arg50Ser) c.1133G>C (p.Gly378Ala) n.292G>C | |
| 3 | g.128481287C>T | CA354413290 | GATA2 | c.1175G>A (p.Gly392Glu) c.1457G>A (p.Gly486Glu) c.150G>A (p.Arg50=) c.1133G>A (p.Gly378Glu) n.292G>A | |
| 3 | g.128481292_128481295dup | CA2695202487 | GATA2 | c.1172_1175dup (p.Ile393ArgfsTer?) c.1454_1457dup (p.Ile487ArgfsTer?) c.147_150dup (p.Asp51LysfsTer?) c.1130_1133dup (p.Ile379ArgfsTer?) n.289_292dup | |
| 3 | g.128481292_128481295del | CA2580616527 | GATA2 | c.1172_1175del (p.Glu391GlyfsTer?) c.1454_1457del (p.Glu485GlyfsTer?) c.147_150del (p.Arg50IlefsTer?) c.1130_1133del (p.Glu377GlyfsTer?) n.289_292del | ClinVar dbSNP |
| 3 | g.128481288C>A | CA354413292 | GATA2 | c.1174G>T (p.Gly392Trp) c.1456G>T (p.Gly486Trp) c.149G>T (p.Arg50Met) c.1132G>T (p.Gly378Trp) n.291G>T | |
| 3 | g.128481288C= | CA1400714348 | GATA2 | c.1174G= (p.Gly392=) c.1456G= (p.Gly486=) c.149G= (p.Arg50=) c.1132G= (p.Gly378=) n.291G= | |
| 3 | g.128481288C>G | CA354413293 | GATA2 | c.1174G>C (p.Gly392Arg) c.1456G>C (p.Gly486Arg) c.149G>C (p.Arg50Thr) c.1132G>C (p.Gly378Arg) n.291G>C | |
| 3 | g.128481288C>T | CA2599824 | GATA2 | c.1174G>A (p.Gly392Arg) c.1456G>A (p.Gly486Arg) c.149G>A (p.Arg50Lys) c.1132G>A (p.Gly378Arg) n.291G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481289T>A | CA354413294 | GATA2 | c.1173A>T (p.Glu391Asp) c.1455A>T (p.Glu485Asp) c.148A>T (p.Arg50Trp) c.1131A>T (p.Glu377Asp) n.290A>T | |
| 3 | g.128481289T>C | CA2599825 | GATA2 | c.1173A>G (p.Glu391=) c.1455A>G (p.Glu485=) c.148A>G (p.Arg50Gly) c.1131A>G (p.Glu377=) n.290A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481289T>G | CA354413295 | GATA2 | c.1173A>C (p.Glu391Asp) c.1455A>C (p.Glu485Asp) c.148A>C (p.Arg50=) c.1131A>C (p.Glu377Asp) n.290A>C | |
| 3 | g.128481289T= | CA1400714355 | GATA2 | c.1173A= (p.Glu391=) c.1455A= (p.Glu485=) c.148A= (p.Arg50=) c.1131A= (p.Glu377=) n.290A= | |
| 3 | g.128481289_128481300del | CA2573320496 | GATA2 | c.1162_1173del (p.Met388_Glu391del) c.1444_1455del (p.Met482_Glu485del) c.137_148del (p.His46_Gly49del) c.1120_1131del (p.Met374_Glu377del) n.279_290del | |
| 3 | g.128481290T>A | CA354413297 | GATA2 | c.1172A>T (p.Glu391Val) c.1454A>T (p.Glu485Val) c.147A>T (p.Gly49=) c.1130A>T (p.Glu377Val) n.289A>T | |
| 3 | g.128481290T>C | CA354413299 | GATA2 | c.1172A>G (p.Glu391Gly) c.1454A>G (p.Glu485Gly) c.147A>G (p.Gly49=) c.1130A>G (p.Glu377Gly) n.289A>G | |
| 3 | g.128481290T>G | CA354413301 | GATA2 | c.1172A>C (p.Glu391Ala) c.1454A>C (p.Glu485Ala) c.147A>C (p.Gly49=) c.1130A>C (p.Glu377Ala) n.289A>C | |
| 3 | g.128481290_128481301del | CA2573052067 | GATA2 | c.1161_1172del (p.Met388_Glu391del) c.1443_1454del (p.Met482_Glu485del) c.136_147del (p.His46_Gly49del) c.1119_1130del (p.Met374_Glu377del) n.278_289del | ClinVar dbSNP |
| 3 | g.128481291C>A | CA354413302 | GATA2 | c.1171G>T (p.Glu391Ter) c.1453G>T (p.Glu485Ter) c.146G>T (p.Gly49Val) c.1129G>T (p.Glu377Ter) n.288G>T | |
| 3 | g.128481291C= | CA1400714362 | GATA2 | c.1171G= (p.Glu391=) c.1453G= (p.Glu485=) c.146G= (p.Gly49=) c.1129G= (p.Glu377=) n.288G= | |
| 3 | g.128481291C>G | CA354413304 | GATA2 | c.1171G>C (p.Glu391Gln) c.1453G>C (p.Glu485Gln) c.146G>C (p.Gly49Ala) c.1129G>C (p.Glu377Gln) n.288G>C | |
| 3 | g.128481291C>T | CA354413306 | GATA2 | c.1171G>A (p.Glu391Lys) c.1453G>A (p.Glu485Lys) c.146G>A (p.Gly49Glu) c.1129G>A (p.Glu377Lys) n.288G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481291_128481297delinsCCTTCTT | CA1400714360 | GATA2 | c.1165_1171delinsAAGAAGG (p.Lys389=) c.1447_1453delinsAAGAAGG (p.Lys483=) c.140_146delinsAAGAAGG (p.Glu47=) c.1123_1129delinsAAGAAGG (p.Lys375=) n.282_288delinsAAGAAGG | |
| 3 | g.128481292C>A | CA354413308 | GATA2 | c.1170G>T (p.Lys390Asn) c.1452G>T (p.Lys484Asn) c.145G>T (p.Gly49Ter) c.1128G>T (p.Lys376Asn) n.287G>T | |
| 3 | g.128481292C= | CA1400714372 | GATA2 | c.1170G= (p.Lys390=) c.1452G= (p.Lys484=) c.145G= (p.Gly49=) c.1128G= (p.Lys376=) n.287G= | |
| 3 | g.128481292C>G | CA354413310 | GATA2 | c.1170G>C (p.Lys390Asn) c.1452G>C (p.Lys484Asn) c.145G>C (p.Gly49Arg) c.1128G>C (p.Lys376Asn) n.287G>C | |
| 3 | g.128481292C>T | CA2599826 | GATA2 | c.1170G>A (p.Lys390=) c.1452G>A (p.Lys484=) c.145G>A (p.Gly49Arg) c.1128G>A (p.Lys376=) n.287G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481296_128481298del | CA645529123 | GATA2 | c.1168_1170del (p.Lys390del) c.1450_1452del (p.Lys484del) c.143_145del (p.Glu48del) c.1126_1128del (p.Lys376del) n.285_287del | ClinVar dbSNP COSMIC |
| 3 | g.128481293_128481298del | CA645529124 | GATA2 | c.1165_1170del (p.Lys389_Lys390del) c.1447_1452del (p.Lys483_Lys484del) c.140_145del (p.Glu47_Glu48del) c.1123_1128del (p.Lys375_Lys376del) n.282_287del | ClinVar dbSNP COSMIC |
| 3 | g.128481293_128481304del | CA2695202397 | GATA2 | c.1159_1170del (p.Thr387_Lys390del) c.1441_1452del (p.Thr481_Lys484del) c.134_145del (p.Asp45_Glu48del) c.1117_1128del (p.Thr373_Lys376del) n.276_287del |