| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 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.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 | |
| 3 | g.128481293T>A | CA354413316 | GATA2 | c.1169A>T (p.Lys390Met) c.1451A>T (p.Lys484Met) c.144A>T (p.Glu48Asp) c.1127A>T (p.Lys376Met) n.286A>T | |
| 3 | g.128481293T>C | CA354413313 | GATA2 | c.1169A>G (p.Lys390Arg) c.1451A>G (p.Lys484Arg) c.144A>G (p.Glu48=) c.1127A>G (p.Lys376Arg) n.286A>G | |
| 3 | g.128481293T>G | CA354413315 | GATA2 | c.1169A>C (p.Lys390Thr) c.1451A>C (p.Lys484Thr) c.144A>C (p.Glu48Asp) c.1127A>C (p.Lys376Thr) n.286A>C | |
| 3 | g.128481293_128481302delinsTTCTTCATGG | CA1400714375 | GATA2 | c.1160_1169delinsCCATGAAGAA (p.Thr387=) c.1442_1451delinsCCATGAAGAA (p.Thr481=) c.135_144delinsCCATGAAGAA (p.Asp45=) c.1118_1127delinsCCATGAAGAA (p.Thr373=) n.277_286delinsCCATGAAGAA | |
| 3 | g.128481294T>A | CA354413318 | GATA2 | c.1168A>T (p.Lys390Ter) c.1450A>T (p.Lys484Ter) c.143A>T (p.Glu48Val) c.1126A>T (p.Lys376Ter) n.285A>T | |
| 3 | g.128481294T>C | CA354413320 | GATA2 | c.1168A>G (p.Lys390Glu) c.1450A>G (p.Lys484Glu) c.143A>G (p.Glu48Gly) c.1126A>G (p.Lys376Glu) n.285A>G | ClinVar dbSNP COSMIC |
| 3 | g.128481294T>G | CA354413321 | GATA2 | c.1168A>C (p.Lys390Gln) c.1450A>C (p.Lys484Gln) c.143A>C (p.Glu48Ala) c.1126A>C (p.Lys376Gln) n.285A>C | |
| 3 | g.128481296_128481304del | CA658657334 | GATA2 | c.1160_1168del (p.Thr387_Lys389del) c.1442_1450del (p.Thr481_Lys483del) c.135_143del (p.Asp45_Glu47del) c.1118_1126del (p.Thr373_Lys375del) n.277_285del | ClinVar dbSNP |
| 3 | g.128481295C>A | CA354413322 | GATA2 | c.1167G>T (p.Lys389Asn) c.1449G>T (p.Lys483Asn) c.142G>T (p.Glu48Ter) c.1125G>T (p.Lys375Asn) n.284G>T | |
| 3 | g.128481295C>G | CA354413323 | GATA2 | c.1167G>C (p.Lys389Asn) c.1449G>C (p.Lys483Asn) c.142G>C (p.Glu48Gln) c.1125G>C (p.Lys375Asn) n.284G>C | |
| 3 | g.128481295C>T | CA435525164 | GATA2 | c.1167G>A (p.Lys389=) c.1449G>A (p.Lys483=) c.142G>A (p.Glu48Lys) c.1125G>A (p.Lys375=) n.284G>A | |
| 3 | g.128481296T>A | CA354413325 | GATA2 | c.1166A>T (p.Lys389Met) c.1448A>T (p.Lys483Met) c.141A>T (p.Glu47Asp) c.1124A>T (p.Lys375Met) n.283A>T | |
| 3 | g.128481296T>C | CA354413327 | GATA2 | c.1166A>G (p.Lys389Arg) c.1448A>G (p.Lys483Arg) c.141A>G (p.Glu47=) c.1124A>G (p.Lys375Arg) n.283A>G | dbSNP |
| 3 | g.128481296T>G | CA354413328 | GATA2 | c.1166A>C (p.Lys389Thr) c.1448A>C (p.Lys483Thr) c.141A>C (p.Glu47Asp) c.1124A>C (p.Lys375Thr) n.283A>C | |
| 3 | g.128481296T= | CA1400714381 | GATA2 | c.1166A= (p.Lys389=) c.1448A= (p.Lys483=) c.141A= (p.Glu47=) c.1124A= (p.Lys375=) n.283A= | |
| 3 | g.128481297T>A | CA354413331 | GATA2 | c.1165A>T (p.Lys389Ter) c.1447A>T (p.Lys483Ter) c.140A>T (p.Glu47Val) c.1123A>T (p.Lys375Ter) n.282A>T | |
| 3 | g.128481297T>C | CA354413332 | GATA2 | c.1165A>G (p.Lys389Glu) c.1447A>G (p.Lys483Glu) c.140A>G (p.Glu47Gly) c.1123A>G (p.Lys375Glu) n.282A>G | |
| 3 | g.128481297T>G | CA354413334 | GATA2 | c.1165A>C (p.Lys389Gln) c.1447A>C (p.Lys483Gln) c.140A>C (p.Glu47Ala) c.1123A>C (p.Lys375Gln) n.282A>C | |
| 3 | g.128481300_128481305del | CA645529125 | GATA2 | c.1160_1165del (p.Thr387_Met388del) c.1442_1447del (p.Thr481_Met482del) c.135_140del (p.Asp45_His46del) c.1118_1123del (p.Thr373_Met374del) n.277_282del | ClinVar dbSNP COSMIC |
| 3 | g.128481298C>A | CA354413337 | GATA2 | c.1164G>T (p.Met388Ile) c.1446G>T (p.Met482Ile) c.139G>T (p.Glu47Ter) c.1122G>T (p.Met374Ile) n.281G>T | |
| 3 | g.128481298C>G | CA354413339 | GATA2 | c.1164G>C (p.Met388Ile) c.1446G>C (p.Met482Ile) c.139G>C (p.Glu47Gln) c.1122G>C (p.Met374Ile) n.281G>C | |
| 3 | g.128481298C>T | CA354413335 | GATA2 | c.1164G>A (p.Met388Ile) c.1446G>A (p.Met482Ile) c.139G>A (p.Glu47Lys) c.1122G>A (p.Met374Ile) n.281G>A | |
| 3 | g.128481299A>C | CA354413348 | GATA2 | c.1163T>G (p.Met388Arg) c.1445T>G (p.Met482Arg) c.138T>G (p.His46Gln) c.1121T>G (p.Met374Arg) n.280T>G | |
| 3 | g.128481299A>G | CA354413345 | GATA2 | c.1163T>C (p.Met388Thr) c.1445T>C (p.Met482Thr) c.138T>C (p.His46=) c.1121T>C (p.Met374Thr) n.280T>C | ClinVar dbSNP COSMIC |
| 3 | g.128481299A>T | CA354413346 | GATA2 | c.1163T>A (p.Met388Lys) c.1445T>A (p.Met482Lys) c.138T>A (p.His46Gln) c.1121T>A (p.Met374Lys) n.280T>A | |
| 3 | g.128481300T>A | CA354413351 | GATA2 | c.1162A>T (p.Met388Leu) c.1444A>T (p.Met482Leu) c.137A>T (p.His46Leu) c.1120A>T (p.Met374Leu) n.279A>T | |
| 3 | g.128481300T>C | CA354413352 | GATA2 | c.1162A>G (p.Met388Val) c.1444A>G (p.Met482Val) c.137A>G (p.His46Arg) c.1120A>G (p.Met374Val) n.279A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481300T>G | CA354413354 | GATA2 | c.1162A>C (p.Met388Leu) c.1444A>C (p.Met482Leu) c.137A>C (p.His46Pro) c.1120A>C (p.Met374Leu) n.279A>C | |
| 3 | g.128481301G>A | CA435525174 | GATA2 | c.1161C>T (p.Thr387=) c.1443C>T (p.Thr481=) c.136C>T (p.His46Tyr) c.1119C>T (p.Thr373=) n.278C>T | ClinVar |
| 3 | g.128481301G>C | CA435525175 | GATA2 | c.1161C>G (p.Thr387=) c.1443C>G (p.Thr481=) c.136C>G (p.His46Asp) c.1119C>G (p.Thr373=) n.278C>G | |
| 3 | g.128481301G= | CA1400714389 | GATA2 | c.1161C= (p.Thr387=) c.1443C= (p.Thr481=) c.136C= (p.His46=) c.1119C= (p.Thr373=) n.278C= | |
| 3 | g.128481301G>T | CA2599827 | GATA2 | c.1161C>A (p.Thr387=) c.1443C>A (p.Thr481=) c.136C>A (p.His46Asn) c.1119C>A (p.Thr373=) n.278C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481302G>A | CA354413357 | GATA2 | c.1160C>T (p.Thr387Ile) c.1442C>T (p.Thr481Ile) c.135C>T (p.Asp45=) c.1118C>T (p.Thr373Ile) n.277C>T | gnomAD v4 |
| 3 | g.128481302G>C | CA354413358 | GATA2 | c.1160C>G (p.Thr387Ser) c.1442C>G (p.Thr481Ser) c.135C>G (p.Asp45Glu) c.1118C>G (p.Thr373Ser) n.277C>G | |
| 3 | g.128481302G= | CA1400714395 | GATA2 | c.1160C= (p.Thr387=) c.1442C= (p.Thr481=) c.135C= (p.Asp45=) c.1118C= (p.Thr373=) n.277C= | |
| 3 | g.128481302G>T | CA16611169 | GATA2 | c.1160C>A (p.Thr387Asn) c.1442C>A (p.Thr481Asn) c.135C>A (p.Asp45Glu) c.1118C>A (p.Thr373Asn) n.277C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481302_128481303dup | CA915941554 | GATA2 | c.1159_1160dup (p.Met388ProfsTer2) c.1441_1442dup (p.Met482ProfsTer2) c.134_135dup (p.His46ThrfsTer?) c.1117_1118dup (p.Met374ProfsTer2) n.276_277dup | ClinVar dbSNP |
| 3 | g.128481303T>A | CA354413360 | GATA2 | c.1159A>T (p.Thr387Ser) c.1441A>T (p.Thr481Ser) c.134A>T (p.Asp45Val) c.1117A>T (p.Thr373Ser) n.276A>T | |
| 3 | g.128481303T>C | CA354413361 | GATA2 | c.1159A>G (p.Thr387Ala) c.1441A>G (p.Thr481Ala) c.134A>G (p.Asp45Gly) c.1117A>G (p.Thr373Ala) n.276A>G | ClinVar |
| 3 | g.128481303T>G | CA354413363 | GATA2 | c.1159A>C (p.Thr387Pro) c.1441A>C (p.Thr481Pro) c.134A>C (p.Asp45Ala) c.1117A>C (p.Thr373Pro) n.276A>C | |
| 3 | g.128481304C>A | CA435525181 | GATA2 | c.1158G>T (p.Leu386=) c.1440G>T (p.Leu480=) c.133G>T (p.Asp45Tyr) c.1116G>T (p.Leu372=) n.275G>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481304C>G | CA435525182 | GATA2 | c.1158G>C (p.Leu386=) c.1440G>C (p.Leu480=) c.133G>C (p.Asp45His) c.1116G>C (p.Leu372=) n.275G>C | ClinVar dbSNP |
| 3 | g.128481304C>T | CA435525183 | GATA2 | c.1158G>A (p.Leu386=) c.1440G>A (p.Leu480=) c.133G>A (p.Asp45Asn) c.1116G>A (p.Leu372=) n.275G>A | |
| 3 | g.128481305A>C | CA354413368 | GATA2 | c.1157T>G (p.Leu386Arg) c.1439T>G (p.Leu480Arg) c.132T>G (p.Thr44=) c.1115T>G (p.Leu372Arg) n.274T>G | |
| 3 | g.128481305A>G | CA354413366 | GATA2 | c.1157T>C (p.Leu386Pro) c.1439T>C (p.Leu480Pro) c.132T>C (p.Thr44=) c.1115T>C (p.Leu372Pro) n.274T>C | |
| 3 | g.128481305A>T | CA354413365 | GATA2 | c.1157T>A (p.Leu386Gln) c.1439T>A (p.Leu480Gln) c.132T>A (p.Thr44=) c.1115T>A (p.Leu372Gln) n.274T>A | |
| 3 | g.128481306G>A | CA435525185 | GATA2 | c.1156C>T (p.Leu386=) c.1438C>T (p.Leu480=) c.131C>T (p.Thr44Ile) c.1114C>T (p.Leu372=) n.273C>T | |
| 3 | g.128481306G>C | CA354413370 | GATA2 | c.1156C>G (p.Leu386Val) c.1438C>G (p.Leu480Val) c.131C>G (p.Thr44Ser) c.1114C>G (p.Leu372Val) n.273C>G | dbSNP |
| 3 | g.128481306G= | CA1400714399 | GATA2 | c.1156C= (p.Leu386=) c.1438C= (p.Leu480=) c.131C= (p.Thr44=) c.1114C= (p.Leu372=) n.273C= | |
| 3 | g.128481306G>T | CA354413371 | GATA2 | c.1156C>A (p.Leu386Met) c.1438C>A (p.Leu480Met) c.131C>A (p.Thr44Asn) c.1114C>A (p.Leu372Met) n.273C>A | |
| 3 | g.128481307_128481308dup | CA2586965850 | GATA2 | c.1155_1156dup (p.Leu386HisfsTer2) c.1437_1438dup (p.Leu480HisfsTer2) c.130_131dup (p.Asp45LeufsTer?) c.1113_1114dup (p.Leu372HisfsTer2) n.272_273dup | |
| 3 | g.128481307T>A | CA435525187 | GATA2 | c.1155A>T (p.Pro385=) c.1437A>T (p.Pro479=) c.130A>T (p.Thr44Ser) c.1113A>T (p.Pro371=) n.272A>T | gnomAD v4 |
| 3 | g.128481307T>C | CA435525189 | GATA2 | c.1155A>G (p.Pro385=) c.1437A>G (p.Pro479=) c.130A>G (p.Thr44Ala) c.1113A>G (p.Pro371=) n.272A>G | ClinVar dbSNP |
| 3 | g.128481307T>G | CA435525190 | GATA2 | c.1155A>C (p.Pro385=) c.1437A>C (p.Pro479=) c.130A>C (p.Thr44Pro) c.1113A>C (p.Pro371=) n.272A>C | |
| 3 | g.128481308G>A | CA354413373 | GATA2 | c.1154C>T (p.Pro385Leu) c.1436C>T (p.Pro479Leu) c.129C>T (p.Ala43=) c.1112C>T (p.Pro371Leu) n.271C>T | ClinVar dbSNP COSMIC |
| 3 | g.128481308G>C | CA354413376 | GATA2 | c.1154C>G (p.Pro385Arg) c.1436C>G (p.Pro479Arg) c.129C>G (p.Ala43=) c.1112C>G (p.Pro371Arg) n.271C>G | |
| 3 | g.128481308G>T | CA354413378 | GATA2 | c.1154C>A (p.Pro385Gln) c.1436C>A (p.Pro479Gln) c.129C>A (p.Ala43=) c.1112C>A (p.Pro371Gln) n.271C>A | ClinVar dbSNP |
| 3 | g.128481309G>A | CA354413380 | GATA2 | c.1153C>T (p.Pro385Ser) c.1435C>T (p.Pro479Ser) c.128C>T (p.Ala43Val) c.1111C>T (p.Pro371Ser) n.270C>T | |
| 3 | g.128481309G>C | CA354413381 | GATA2 | c.1153C>G (p.Pro385Ala) c.1435C>G (p.Pro479Ala) c.128C>G (p.Ala43Gly) c.1111C>G (p.Pro371Ala) n.270C>G | |
| 3 | g.128481309G>T | CA354413382 | GATA2 | c.1153C>A (p.Pro385Thr) c.1435C>A (p.Pro479Thr) c.128C>A (p.Ala43Asp) c.1111C>A (p.Pro371Thr) n.270C>A | |
| 3 | g.128481310C>A | CA354413384 | GATA2 | c.1152G>T (p.Arg384Ser) c.1434G>T (p.Arg478Ser) c.127G>T (p.Ala43Ser) c.1110G>T (p.Arg370Ser) n.269G>T | |
| 3 | g.128481310C= | CA1400714403 | GATA2 | c.1152G= (p.Arg384=) c.1434G= (p.Arg478=) c.127G= (p.Ala43=) c.1110G= (p.Arg370=) n.269G= | |
| 3 | g.128481310C>G | CA354413386 | GATA2 | c.1152G>C (p.Arg384Ser) c.1434G>C (p.Arg478Ser) c.127G>C (p.Ala43Pro) c.1110G>C (p.Arg370Ser) n.269G>C | |
| 3 | g.128481310C>T | CA435525197 | GATA2 | c.1152G>A (p.Arg384=) c.1434G>A (p.Arg478=) c.127G>A (p.Ala43Thr) c.1110G>A (p.Arg370=) n.269G>A | dbSNP gnomAD v2 |
| 3 | g.128481311C>A | CA354413387 | GATA2 | c.1151G>T (p.Arg384Met) c.1433G>T (p.Arg478Met) c.127-1G>T (n.127-1G>T) c.1109G>T (p.Arg370Met) n.268G>T | |
| 3 | g.128481311C>G | CA354413389 | GATA2 | c.1151G>C (p.Arg384Thr) c.1433G>C (p.Arg478Thr) c.127-1G>C (n.127-1G>C) c.1109G>C (p.Arg370Thr) n.268G>C | |
| 3 | g.128481311C>T | CA354413390 | GATA2 | c.1151G>A (p.Arg384Lys) c.1433G>A (p.Arg478Lys) c.127-1G>A (n.127-1G>A) c.1109G>A (p.Arg370Lys) n.268G>A | COSMIC |
| 3 | g.128481312del | CA2586965851 | GATA2 | c.1150del (p.Arg384GlyfsTer3) c.1432del (p.Arg478GlyfsTer3) c.127-2del (n.127-2del) c.1108del (p.Arg370GlyfsTer3) n.267del | |
| 3 | g.128481312T>A | CA354413393 | GATA2 | c.1150A>T (p.Arg384Trp) c.1432A>T (p.Arg478Trp) c.127-2A>T (n.127-2A>T) c.1108A>T (p.Arg370Trp) n.267A>T | |
| 3 | g.128481312T>C | CA354413391 | GATA2 | c.1150A>G (p.Arg384Gly) c.1432A>G (p.Arg478Gly) c.127-2A>G (n.127-2A>G) c.1108A>G (p.Arg370Gly) n.267A>G | COSMIC |
| 3 | g.128481312T>G | CA435525199 | GATA2 | c.1150A>C (p.Arg384=) c.1432A>C (p.Arg478=) c.127-2A>C (n.127-2A>C) c.1108A>C (p.Arg370=) n.267A>C | |
| 3 | g.128481312_128481313insCTAG | CA2586965852 | GATA2 | c.1149_1150insCTAG (p.Arg384LeufsTer?) c.1431_1432insCTAG (p.Arg478LeufsTer?) c.127-3_127-2insCTAG (n.127-3_127-2insCTAG) c.1107_1108insCTAG (p.Arg370LeufsTer?) n.266_267insCTAG | |
| 3 | g.128481313G>A | CA435525200 | GATA2 | c.1149C>T (p.Asn383=) c.1431C>T (p.Asn477=) c.127-3C>T (n.127-3C>T) c.1107C>T (p.Asn369=) n.266C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481313G>C | CA354413395 | GATA2 | c.1149C>G (p.Asn383Lys) c.1431C>G (p.Asn477Lys) c.127-3C>G (n.127-3C>G) c.1107C>G (p.Asn369Lys) n.266C>G | |
| 3 | g.128481313G= | CA1400714409 | GATA2 | c.1149C= (p.Asn383=) c.1431C= (p.Asn477=) c.127-3C= (n.127-3C=) c.1107C= (p.Asn369=) n.266C= | |
| 3 | g.128481313G>T | CA354413396 | GATA2 | c.1149C>A (p.Asn383Lys) c.1431C>A (p.Asn477Lys) c.127-3C>A (n.127-3C>A) c.1107C>A (p.Asn369Lys) n.266C>A | |
| 3 | g.128481314T>A | CA354413398 | GATA2 | c.1148A>T (p.Asn383Ile) c.1430A>T (p.Asn477Ile) c.127-4A>T (n.127-4A>T) c.1106A>T (p.Asn369Ile) n.265A>T | |
| 3 | g.128481314T>C | CA354413399 | GATA2 | c.1148A>G (p.Asn383Ser) c.1430A>G (p.Asn477Ser) c.127-4A>G (n.127-4A>G) c.1106A>G (p.Asn369Ser) n.265A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481314T>G | CA354413401 | GATA2 | c.1148A>C (p.Asn383Thr) c.1430A>C (p.Asn477Thr) c.127-4A>C (n.127-4A>C) c.1106A>C (p.Asn369Thr) n.265A>C | |
| 3 | g.128481314T= | CA1400714414 | GATA2 | c.1148A= (p.Asn383=) c.1430A= (p.Asn477=) c.127-4A= (n.127-4A=) c.1106A= (p.Asn369=) n.265A= | |
| 3 | g.128481315dup | CA2580068700 | GATA2 | c.1148dup (p.Asn383LysfsTer?) c.1430dup (p.Asn477LysfsTer?) c.127-4dup (n.127-4dup) c.1106dup (p.Asn369LysfsTer?) n.265dup | ClinVar |
| 3 | g.128481315T>A | CA354413403 | GATA2 | c.1147A>T (p.Asn383Tyr) c.1429A>T (p.Asn477Tyr) c.127-5A>T (n.127-5A>T) c.1105A>T (p.Asn369Tyr) n.264A>T | |
| 3 | g.128481315T>C | CA354413404 | GATA2 | c.1147A>G (p.Asn383Asp) c.1429A>G (p.Asn477Asp) c.127-5A>G (n.127-5A>G) c.1105A>G (p.Asn369Asp) n.264A>G | |
| 3 | g.128481315T>G | CA354413406 | GATA2 | c.1147A>C (p.Asn383His) c.1429A>C (p.Asn477His) c.127-5A>C (n.127-5A>C) c.1105A>C (p.Asn369His) n.264A>C | |
| 3 | g.128481315_128481319delinsTAACC | CA1400714416 | GATA2 | c.1144-1_1147delinsGGTTA c.1426-1_1429delinsGGTTA c.127-9_127-5delinsGGTTA (n.127-9_127-5delinsGGTTA) c.1102-1_1105delinsGGTTA n.261-1_264delinsGGTTA | |
| 3 | g.128481316A>C | CA435525207 | GATA2 | c.1146T>G (p.Val382=) c.1428T>G (p.Val476=) c.127-6T>G (n.127-6T>G) c.1104T>G (p.Val368=) n.263T>G | |
| 3 | g.128481316A>G | CA435525209 | GATA2 | c.1146T>C (p.Val382=) c.1428T>C (p.Val476=) c.127-6T>C (n.127-6T>C) c.1104T>C (p.Val368=) n.263T>C | gnomAD v4 |
| 3 | g.128481316A>T | CA435525211 | GATA2 | c.1146T>A (p.Val382=) c.1428T>A (p.Val476=) c.127-6T>A (n.127-6T>A) c.1104T>A (p.Val368=) n.263T>A | ClinVar gnomAD v4 |
| 3 | g.128481316_128481319del | CA915941555 | GATA2 | c.1144-1_1146del c.1426-1_1428del c.127-9_127-6del (n.127-9_127-6del) c.1102-1_1104del n.261-1_263del | ClinVar dbSNP |
| 3 | g.128481317A= | CA1400714424 | GATA2 | c.1145T= (p.Val382=) c.1427T= (p.Val476=) c.127-7T= (n.127-7T=) c.1103T= (p.Val368=) n.262T= | |
| 3 | g.128481317A>C | CA354413407 | GATA2 | c.1145T>G (p.Val382Gly) c.1427T>G (p.Val476Gly) c.127-7T>G (n.127-7T>G) c.1103T>G (p.Val368Gly) n.262T>G | |
| 3 | g.128481317A>G | CA354413409 | GATA2 | c.1145T>C (p.Val382Ala) c.1427T>C (p.Val476Ala) c.127-7T>C (n.127-7T>C) c.1103T>C (p.Val368Ala) n.262T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481317A>T | CA354413411 | GATA2 | c.1145T>A (p.Val382Asp) c.1427T>A (p.Val476Asp) c.127-7T>A (n.127-7T>A) c.1103T>A (p.Val368Asp) n.262T>A | |
| 3 | g.128481318C>A | CA354413412 | GATA2 | c.1144G>T (p.Val382Phe) c.1426G>T (p.Val476Phe) c.127-8G>T (n.127-8G>T) c.1102G>T (p.Val368Phe) n.261G>T | ClinVar dbSNP |
| 3 | g.128481318C= | CA1400714428 | GATA2 | c.1144G= (p.Val382=) c.1426G= (p.Val476=) c.127-8G= (n.127-8G=) c.1102G= (p.Val368=) n.261G= | |
| 3 | g.128481318C>G | CA354413413 | GATA2 | c.1144G>C (p.Val382Leu) c.1426G>C (p.Val476Leu) c.127-8G>C (n.127-8G>C) c.1102G>C (p.Val368Leu) n.261G>C | |
| 3 | g.128481318C>T | CA354413414 | GATA2 | c.1144G>A (p.Val382Ile) c.1426G>A (p.Val476Ile) c.127-8G>A (n.127-8G>A) c.1102G>A (p.Val368Ile) n.261G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481318_128481319insATTGTGCAG | CA2695238901 | GATA2 | c.1144-1_1144insCTGCACAAT (n.1144-1_1144insCTGCACAAT) c.1426-1_1426insCTGCACAAT (n.1426-1_1426insCTGCACAAT) c.127-9_127-8insCTGCACAAT (n.127-9_127-8insCTGCACAAT) c.1102-1_1102insCTGCACAAT (n.1102-1_1102insCTGCACAAT) n.261-1_261insCTGCACAAT | |
| 3 | g.128481319C>A | CA354413420 | GATA2 | c.1144-1G>T (n.1144-1G>T) c.1426-1G>T (n.1426-1G>T) c.127-9G>T (n.127-9G>T) c.1102-1G>T (n.1102-1G>T) n.261-1G>T | |
| 3 | g.128481319C= | CA1400714434 | GATA2 | c.1144-1G= (n.1144-1G=) c.1426-1G= (n.1426-1G=) c.127-9G= (n.127-9G=) c.1102-1G= (n.1102-1G=) n.261-1G= | |
| 3 | g.128481319C>G | CA354413418 | GATA2 | c.1144-1G>C (n.1144-1G>C) c.1426-1G>C (n.1426-1G>C) c.127-9G>C (n.127-9G>C) c.1102-1G>C (n.1102-1G>C) n.261-1G>C | ClinVar dbSNP |
| 3 | g.128481319C>T | CA354413416 | GATA2 | c.1144-1G>A (n.1144-1G>A) c.1426-1G>A (n.1426-1G>A) c.127-9G>A (n.127-9G>A) c.1102-1G>A (n.1102-1G>A) n.261-1G>A | |
| 3 | g.128481320T>A | CA354413421 | GATA2 | c.1144-2A>T (n.1144-2A>T) c.1426-2A>T (n.1426-2A>T) c.127-10A>T (n.127-10A>T) c.1102-2A>T (n.1102-2A>T) n.261-2A>T | |
| 3 | g.128481320T>C | CA354413423 | GATA2 | c.1144-2A>G (n.1144-2A>G) c.1426-2A>G (n.1426-2A>G) c.127-10A>G (n.127-10A>G) c.1102-2A>G (n.1102-2A>G) n.261-2A>G | |
| 3 | g.128481320T>G | CA354413425 | GATA2 | c.1144-2A>C (n.1144-2A>C) c.1426-2A>C (n.1426-2A>C) c.127-10A>C (n.127-10A>C) c.1102-2A>C (n.1102-2A>C) n.261-2A>C | |
| 3 | g.128481323A= | CA1400714438 | GATA2 | c.1144-5T= (n.1144-5T=) c.1426-5T= (n.1426-5T=) c.127-13T= (n.127-13T=) c.1102-5T= (n.1102-5T=) n.261-5T= | |
| 3 | g.128481323A>C | CA1400714439 | GATA2 | c.1144-5T>G (n.1144-5T>G) c.1426-5T>G (n.1426-5T>G) c.127-13T>G (n.127-13T>G) c.1102-5T>G (n.1102-5T>G) n.261-5T>G | ClinVar dbSNP |
| 3 | g.128481323A>T | CA2577890673 | GATA2 | c.1144-5T>A (n.1144-5T>A) c.1426-5T>A (n.1426-5T>A) c.127-13T>A (n.127-13T>A) c.1102-5T>A (n.1102-5T>A) n.261-5T>A | |
| 3 | g.128481324G>A | CA10582133 | GATA2 | c.1144-6C>T (n.1144-6C>T) c.1426-6C>T (n.1426-6C>T) c.127-14C>T (n.127-14C>T) c.1102-6C>T (n.1102-6C>T) n.261-6C>T | ClinVar dbSNP |
| 3 | g.128481324G= | CA1400714443 | GATA2 | c.1144-6C= (n.1144-6C=) c.1426-6C= (n.1426-6C=) c.127-14C= (n.127-14C=) c.1102-6C= (n.1102-6C=) n.261-6C= | |
| 3 | g.128481324G>T | CA2577890674 | GATA2 | c.1144-6C>A (n.1144-6C>A) c.1426-6C>A (n.1426-6C>A) c.127-14C>A (n.127-14C>A) c.1102-6C>A (n.1102-6C>A) n.261-6C>A | gnomAD v4 |
| 3 | g.128481325G>A | CA2548288520 | GATA2 | c.1144-7C>T (n.1144-7C>T) c.1426-7C>T (n.1426-7C>T) c.127-15C>T (n.127-15C>T) c.1102-7C>T (n.1102-7C>T) n.261-7C>T | gnomAD v4 |
| 3 | g.128481325G= | CA1400714446 | GATA2 | c.1144-7C= (n.1144-7C=) c.1426-7C= (n.1426-7C=) c.127-15C= (n.127-15C=) c.1102-7C= (n.1102-7C=) n.261-7C= | |
| 3 | g.128481325G>T | CA2599828 | GATA2 | c.1144-7C>A (n.1144-7C>A) c.1426-7C>A (n.1426-7C>A) c.127-15C>A (n.127-15C>A) c.1102-7C>A (n.1102-7C>A) n.261-7C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481326C>G | CA2667540268 | GATA2 | c.1144-8G>C (n.1144-8G>C) c.1426-8G>C (n.1426-8G>C) c.127-16G>C (n.127-16G>C) c.1102-8G>C (n.1102-8G>C) n.261-8G>C | dbSNP gnomAD v4 |
| 3 | g.128481326C>T | CA2511954800 | GATA2 | c.1144-8G>A (n.1144-8G>A) c.1426-8G>A (n.1426-8G>A) c.127-16G>A (n.127-16G>A) c.1102-8G>A (n.1102-8G>A) n.261-8G>A | |
| 3 | g.128481328A= | CA1400714448 | GATA2 | c.1144-10T= (n.1144-10T=) c.1426-10T= (n.1426-10T=) c.127-18T= (n.127-18T=) c.1102-10T= (n.1102-10T=) n.261-10T= | |
| 3 | g.128481328A>G | CA16611170 | GATA2 | c.1144-10T>C (n.1144-10T>C) c.1426-10T>C (n.1426-10T>C) c.127-18T>C (n.127-18T>C) c.1102-10T>C (n.1102-10T>C) n.261-10T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481329C>A | CA83376313 | GATA2 | c.1144-11G>T (n.1144-11G>T) c.1426-11G>T (n.1426-11G>T) c.127-19G>T (n.127-19G>T) c.1102-11G>T (n.1102-11G>T) n.261-11G>T | dbSNP |
| 3 | g.128481329C= | CA1400714451 | GATA2 | c.1144-11G= (n.1144-11G=) c.1426-11G= (n.1426-11G=) c.127-19G= (n.127-19G=) c.1102-11G= (n.1102-11G=) n.261-11G= | |
| 3 | g.128481330C>A | CA2577890675 | GATA2 | c.1144-12G>T (n.1144-12G>T) c.1426-12G>T (n.1426-12G>T) c.127-20G>T (n.127-20G>T) c.1102-12G>T (n.1102-12G>T) n.261-12G>T | ClinVar |
| 3 | g.128481330C>T | CA2667540269 | GATA2 | c.1144-12G>A (n.1144-12G>A) c.1426-12G>A (n.1426-12G>A) c.127-20G>A (n.127-20G>A) c.1102-12G>A (n.1102-12G>A) n.261-12G>A | gnomAD v4 |
| 3 | g.128481332C>A | CA2667540270 | GATA2 | c.1144-14G>T (n.1144-14G>T) c.1426-14G>T (n.1426-14G>T) c.127-22G>T (n.127-22G>T) c.1102-14G>T (n.1102-14G>T) n.261-14G>T | gnomAD v4 |
| 3 | g.128481332C= | CA1400714454 | GATA2 | c.1144-14G= (n.1144-14G=) c.1426-14G= (n.1426-14G=) c.127-22G= (n.127-22G=) c.1102-14G= (n.1102-14G=) n.261-14G= | |
| 3 | g.128481332C>G | CA2667540271 | GATA2 | c.1144-14G>C (n.1144-14G>C) c.1426-14G>C (n.1426-14G>C) c.127-22G>C (n.127-22G>C) c.1102-14G>C (n.1102-14G>C) n.261-14G>C | gnomAD v4 |
| 3 | g.128481332C>T | CA2599829 | GATA2 | c.1144-14G>A (n.1144-14G>A) c.1426-14G>A (n.1426-14G>A) c.127-22G>A (n.127-22G>A) c.1102-14G>A (n.1102-14G>A) n.261-14G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481333C>A | CA2758339647 | GATA2 | c.1144-15G>T (n.1144-15G>T) c.1426-15G>T (n.1426-15G>T) c.127-23G>T (n.127-23G>T) c.1102-15G>T (n.1102-15G>T) n.261-15G>T | |
| 3 | g.128481334A>C | CA2580068703 | GATA2 | c.1144-16T>G (n.1144-16T>G) c.1426-16T>G (n.1426-16T>G) c.127-24T>G (n.127-24T>G) c.1102-16T>G (n.1102-16T>G) n.261-16T>G | ClinVar |
| 3 | g.128481334A>G | CA2580068702 | GATA2 | c.1144-16T>C (n.1144-16T>C) c.1426-16T>C (n.1426-16T>C) c.127-24T>C (n.127-24T>C) c.1102-16T>C (n.1102-16T>C) n.261-16T>C | ClinVar gnomAD v4 |
| 3 | g.128481335G>A | CA2667540272 | GATA2 | c.1144-17C>T (n.1144-17C>T) c.1426-17C>T (n.1426-17C>T) c.127-25C>T (n.127-25C>T) c.1102-17C>T (n.1102-17C>T) n.261-17C>T | gnomAD v4 |
| 3 | g.128481335G>C | CA2573136505 | GATA2 | c.1144-17C>G (n.1144-17C>G) c.1426-17C>G (n.1426-17C>G) c.127-25C>G (n.127-25C>G) c.1102-17C>G (n.1102-17C>G) n.261-17C>G | ClinVar dbSNP |
| 3 | g.128481335G>T | CA2667540273 | GATA2 | c.1144-17C>A (n.1144-17C>A) c.1426-17C>A (n.1426-17C>A) c.127-25C>A (n.127-25C>A) c.1102-17C>A (n.1102-17C>A) n.261-17C>A | gnomAD v4 |
| 3 | g.128481342G>A | CA1400714457 | GATA2 | c.1144-24C>T (n.1144-24C>T) c.1426-24C>T (n.1426-24C>T) c.127-32C>T (n.127-32C>T) c.1102-24C>T (n.1102-24C>T) n.261-24C>T | dbSNP |
| 3 | g.128481342G= | CA1400714456 | GATA2 | c.1144-24C= (n.1144-24C=) c.1426-24C= (n.1426-24C=) c.127-32C= (n.127-32C=) c.1102-24C= (n.1102-24C=) n.261-24C= | |
| 3 | g.128481343del | CA2667540274 | GATA2 | c.1144-25del (n.1144-25del) c.1426-25del (n.1426-25del) c.127-33del (n.127-33del) c.1102-25del (n.1102-25del) n.261-25del | gnomAD v4 |
| 3 | g.128481344G>A | CA546415758 | GATA2 | c.1144-26C>T (n.1144-26C>T) c.1426-26C>T (n.1426-26C>T) c.127-34C>T (n.127-34C>T) c.1102-26C>T (n.1102-26C>T) n.261-26C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481344G>C | CA2667540275 | GATA2 | c.1144-26C>G (n.1144-26C>G) c.1426-26C>G (n.1426-26C>G) c.127-34C>G (n.127-34C>G) c.1102-26C>G (n.1102-26C>G) n.261-26C>G | gnomAD v4 |
| 3 | g.128481344G= | CA1400714460 | GATA2 | c.1144-26C= (n.1144-26C=) c.1426-26C= (n.1426-26C=) c.127-34C= (n.127-34C=) c.1102-26C= (n.1102-26C=) n.261-26C= | |
| 3 | g.128481344G>T | CA2599830 | GATA2 | c.1144-26C>A (n.1144-26C>A) c.1426-26C>A (n.1426-26C>A) c.127-34C>A (n.127-34C>A) c.1102-26C>A (n.1102-26C>A) n.261-26C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481345G>A | CA1400714465 | GATA2 | c.1144-27C>T (n.1144-27C>T) c.1426-27C>T (n.1426-27C>T) c.127-35C>T (n.127-35C>T) c.1102-27C>T (n.1102-27C>T) n.261-27C>T | dbSNP |
| 3 | g.128481345G= | CA1400714464 | GATA2 | c.1144-27C= (n.1144-27C=) c.1426-27C= (n.1426-27C=) c.127-35C= (n.127-35C=) c.1102-27C= (n.1102-27C=) n.261-27C= | |
| 3 | g.128481346G>A | CA2667540276 | GATA2 | c.1144-28C>T (n.1144-28C>T) c.1426-28C>T (n.1426-28C>T) c.127-36C>T (n.127-36C>T) c.1102-28C>T (n.1102-28C>T) n.261-28C>T | gnomAD v4 |
| 3 | g.128481346G>T | CA2667540277 | GATA2 | c.1144-28C>A (n.1144-28C>A) c.1426-28C>A (n.1426-28C>A) c.127-36C>A (n.127-36C>A) c.1102-28C>A (n.1102-28C>A) n.261-28C>A | gnomAD v4 |
| 3 | g.128481347C= | CA1400714468 | GATA2 | c.1144-29G= (n.1144-29G=) c.1426-29G= (n.1426-29G=) c.127-37G= (n.127-37G=) c.1102-29G= (n.1102-29G=) n.261-29G= | |
| 3 | g.128481347C>T | CA83376319 | GATA2 | c.1144-29G>A (n.1144-29G>A) c.1426-29G>A (n.1426-29G>A) c.127-37G>A (n.127-37G>A) c.1102-29G>A (n.1102-29G>A) n.261-29G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481348C>A | CA546415759 | GATA2 | c.1144-30G>T (n.1144-30G>T) c.1426-30G>T (n.1426-30G>T) c.127-38G>T (n.127-38G>T) c.1102-30G>T (n.1102-30G>T) n.261-30G>T | dbSNP gnomAD v2 |
| 3 | g.128481348C= | CA1400714471 | GATA2 | c.1144-30G= (n.1144-30G=) c.1426-30G= (n.1426-30G=) c.127-38G= (n.127-38G=) c.1102-30G= (n.1102-30G=) n.261-30G= | |
| 3 | g.128481348C>G | CA2667540278 | GATA2 | c.1144-30G>C (n.1144-30G>C) c.1426-30G>C (n.1426-30G>C) c.127-38G>C (n.127-38G>C) c.1102-30G>C (n.1102-30G>C) n.261-30G>C | gnomAD v4 |
| 3 | g.128481348C>T | CA2667540279 | GATA2 | c.1144-30G>A (n.1144-30G>A) c.1426-30G>A (n.1426-30G>A) c.127-38G>A (n.127-38G>A) c.1102-30G>A (n.1102-30G>A) n.261-30G>A | gnomAD v4 |
| 3 | g.128481349A= | CA1400714475 | GATA2 | c.1144-31T= (n.1144-31T=) c.1426-31T= (n.1426-31T=) c.127-39T= (n.127-39T=) c.1102-31T= (n.1102-31T=) n.261-31T= | |
| 3 | g.128481349A>G | CA83376322 | GATA2 | c.1144-31T>C (n.1144-31T>C) c.1426-31T>C (n.1426-31T>C) c.127-39T>C (n.127-39T>C) c.1102-31T>C (n.1102-31T>C) n.261-31T>C | dbSNP |
| 3 | g.128481350G>A | CA1400714479 | GATA2 | c.1144-32C>T (n.1144-32C>T) c.1426-32C>T (n.1426-32C>T) c.127-40C>T (n.127-40C>T) c.1102-32C>T (n.1102-32C>T) n.261-32C>T | dbSNP gnomAD v4 |
| 3 | g.128481350G= | CA1400714477 | GATA2 | c.1144-32C= (n.1144-32C=) c.1426-32C= (n.1426-32C=) c.127-40C= (n.127-40C=) c.1102-32C= (n.1102-32C=) n.261-32C= | |
| 3 | g.128481350G>T | CA2667540280 | GATA2 | c.1144-32C>A (n.1144-32C>A) c.1426-32C>A (n.1426-32C>A) c.127-40C>A (n.127-40C>A) c.1102-32C>A (n.1102-32C>A) n.261-32C>A | gnomAD v4 |
| 3 | g.128481353C>T | CA2577890676 | GATA2 | c.1144-35G>A (n.1144-35G>A) c.1426-35G>A (n.1426-35G>A) c.127-43G>A (n.127-43G>A) c.1102-35G>A (n.1102-35G>A) n.261-35G>A | |
| 3 | g.128481354C>T | CA2667540281 | GATA2 | c.1144-36G>A (n.1144-36G>A) c.1426-36G>A (n.1426-36G>A) c.127-44G>A (n.127-44G>A) c.1102-36G>A (n.1102-36G>A) n.261-36G>A | gnomAD v4 |
| 3 | g.128481355T>A | CA2577890677 | GATA2 | c.1144-37A>T (n.1144-37A>T) c.1426-37A>T (n.1426-37A>T) c.127-45A>T (n.127-45A>T) c.1102-37A>T (n.1102-37A>T) n.261-37A>T | gnomAD v4 |
| 3 | g.128481355T>C | CA898647197 | GATA2 | c.1144-37A>G (n.1144-37A>G) c.1426-37A>G (n.1426-37A>G) c.127-45A>G (n.127-45A>G) c.1102-37A>G (n.1102-37A>G) n.261-37A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481355T= | CA1400714481 | GATA2 | c.1144-37A= (n.1144-37A=) c.1426-37A= (n.1426-37A=) c.127-45A= (n.127-45A=) c.1102-37A= (n.1102-37A=) n.261-37A= | |
| 3 | g.128481356T>A | CA2667540282 | GATA2 | c.1144-38A>T (n.1144-38A>T) c.1426-38A>T (n.1426-38A>T) c.127-46A>T (n.127-46A>T) c.1102-38A>T (n.1102-38A>T) n.261-38A>T | gnomAD v4 |
| 3 | g.128481356T>C | CA2599831 | GATA2 | c.1144-38A>G (n.1144-38A>G) c.1426-38A>G (n.1426-38A>G) c.127-46A>G (n.127-46A>G) c.1102-38A>G (n.1102-38A>G) n.261-38A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481356T= | CA1400714483 | GATA2 | c.1144-38A= (n.1144-38A=) c.1426-38A= (n.1426-38A=) c.127-46A= (n.127-46A=) c.1102-38A= (n.1102-38A=) n.261-38A= | |
| 3 | g.128481357C= | CA1400714485 | GATA2 | c.1144-39G= (n.1144-39G=) c.1426-39G= (n.1426-39G=) c.127-47G= (n.127-47G=) c.1102-39G= (n.1102-39G=) n.261-39G= | |
| 3 | g.128481357C>T | CA2599832 | GATA2 | c.1144-39G>A (n.1144-39G>A) c.1426-39G>A (n.1426-39G>A) c.127-47G>A (n.127-47G>A) c.1102-39G>A (n.1102-39G>A) n.261-39G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481358C>A | CA1400714488 | GATA2 | c.1144-40G>T (n.1144-40G>T) c.1426-40G>T (n.1426-40G>T) c.127-48G>T (n.127-48G>T) c.1102-40G>T (n.1102-40G>T) n.261-40G>T | dbSNP |
| 3 | g.128481358C= | CA1400714487 | GATA2 | c.1144-40G= (n.1144-40G=) c.1426-40G= (n.1426-40G=) c.127-48G= (n.127-48G=) c.1102-40G= (n.1102-40G=) n.261-40G= |