| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128485200_128487231del | CA358451 | GATA2 | c.-45-155_871+527del c.238-155_1153+527del | ClinVar |
| 3 | g.128485206_128487871del | CA916081440 | GATA2 | c.-200_871+527del c.83_1153+527del c.-45-789_871+527del | |
| 3 | g.128485868G>A | CA354406115 | GATA2 | c.730C>T (p.His244Tyr) c.1012C>T (p.His338Tyr) | |
| 3 | g.128485868G>C | CA354406117 | GATA2 | c.730C>G (p.His244Asp) c.1012C>G (p.His338Asp) | |
| 3 | g.128485868G>T | CA354406119 | GATA2 | c.730C>A (p.His244Asn) c.1012C>A (p.His338Asn) | ClinVar |
| 3 | g.128485869G>A | CA2599969 | GATA2 | c.729C>T (p.His243=) c.1011C>T (p.His337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485869G>C | CA354406121 | GATA2 | c.729C>G (p.His243Gln) c.1011C>G (p.His337Gln) | ClinVar dbSNP |
| 3 | g.128485869G= | CA1400719219 | GATA2 | c.729C= (p.His243=) c.1011C= (p.His337=) | |
| 3 | g.128485869G>T | CA354406122 | GATA2 | c.729C>A (p.His243Gln) c.1011C>A (p.His337Gln) | |
| 3 | g.128485870T>A | CA354406125 | GATA2 | c.728A>T (p.His243Leu) c.1010A>T (p.His337Leu) | |
| 3 | g.128485870T>C | CA354406126 | GATA2 | c.728A>G (p.His243Arg) c.1010A>G (p.His337Arg) | |
| 3 | g.128485870T>G | CA354406129 | GATA2 | c.728A>C (p.His243Pro) c.1010A>C (p.His337Pro) | |
| 3 | g.128485871G>A | CA354406133 | GATA2 | c.727C>T (p.His243Tyr) c.1009C>T (p.His337Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485871G>C | CA354406132 | GATA2 | c.727C>G (p.His243Asp) c.1009C>G (p.His337Asp) | |
| 3 | g.128485871G= | CA1400719232 | GATA2 | c.727C= (p.His243=) c.1009C= (p.His337=) | |
| 3 | g.128485871G>T | CA354406131 | GATA2 | c.727C>A (p.His243Asn) c.1009C>A (p.His337Asn) | |
| 3 | g.128485872T>A | CA2599970 | GATA2 | c.726A>T (p.Thr242=) c.1008A>T (p.Thr336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485872T>C | CA435763955 | GATA2 | c.726A>G (p.Thr242=) c.1008A>G (p.Thr336=) | |
| 3 | g.128485872T>G | CA435763956 | GATA2 | c.726A>C (p.Thr242=) c.1008A>C (p.Thr336=) | |
| 3 | g.128485872T= | CA1400719237 | GATA2 | c.726A= (p.Thr242=) c.1008A= (p.Thr336=) | |
| 3 | g.128485873G>A | CA354406137 | GATA2 | c.725C>T (p.Thr242Ile) c.1007C>T (p.Thr336Ile) | dbSNP |
| 3 | g.128485873G>C | CA354406139 | GATA2 | c.725C>G (p.Thr242Arg) c.1007C>G (p.Thr336Arg) | |
| 3 | g.128485873G= | CA1400719239 | GATA2 | c.725C= (p.Thr242=) c.1007C= (p.Thr336=) | |
| 3 | g.128485873G>T | CA354406140 | GATA2 | c.725C>A (p.Thr242Lys) c.1007C>A (p.Thr336Lys) | |
| 3 | g.128485874T>A | CA354406143 | GATA2 | c.724A>T (p.Thr242Ser) c.1006A>T (p.Thr336Ser) | |
| 3 | g.128485874T>C | CA10614773 | GATA2 | c.724A>G (p.Thr242Ala) c.1006A>G (p.Thr336Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485874T>G | CA354406145 | GATA2 | c.724A>C (p.Thr242Pro) c.1006A>C (p.Thr336Pro) | dbSNP |
| 3 | g.128485874T= | CA1400719244 | GATA2 | c.724A= (p.Thr242=) c.1006A= (p.Thr336=) | |
| 3 | g.128485875A= | CA1400719246 | GATA2 | c.723T= (p.Ala241=) c.1005T= (p.Ala335=) | |
| 3 | g.128485875A>C | CA435763960 | GATA2 | c.723T>G (p.Ala241=) c.1005T>G (p.Ala335=) | ClinVar dbSNP |
| 3 | g.128485875A>G | CA435763961 | GATA2 | c.723T>C (p.Ala241=) c.1005T>C (p.Ala335=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128485875A>T | CA435763962 | GATA2 | c.723T>A (p.Ala241=) c.1005T>A (p.Ala335=) | |
| 3 | g.128485876G>A | CA354406146 | GATA2 | c.722C>T (p.Ala241Val) c.1004C>T (p.Ala335Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485876G>C | CA354406148 | GATA2 | c.722C>G (p.Ala241Gly) c.1004C>G (p.Ala335Gly) | |
| 3 | g.128485876G= | CA1400719251 | GATA2 | c.722C= (p.Ala241=) c.1004C= (p.Ala335=) | |
| 3 | g.128485876G>T | CA354406149 | GATA2 | c.722C>A (p.Ala241Asp) c.1004C>A (p.Ala335Asp) | |
| 3 | g.128485877C>A | CA354406150 | GATA2 | c.721G>T (p.Ala241Ser) c.1003G>T (p.Ala335Ser) | |
| 3 | g.128485877C>G | CA354406151 | GATA2 | c.721G>C (p.Ala241Pro) c.1003G>C (p.Ala335Pro) | |
| 3 | g.128485877C>T | CA354406153 | GATA2 | c.721G>A (p.Ala241Thr) c.1003G>A (p.Ala335Thr) | gnomAD v4 |
| 3 | g.128485878A>C | CA435763966 | GATA2 | c.720T>G (p.Pro240=) c.1002T>G (p.Pro334=) | |
| 3 | g.128485878A>G | CA435763967 | GATA2 | c.720T>C (p.Pro240=) c.1002T>C (p.Pro334=) | |
| 3 | g.128485878A>T | CA435763968 | GATA2 | c.720T>A (p.Pro240=) c.1002T>A (p.Pro334=) | |
| 3 | g.128485879G>A | CA354406156 | GATA2 | c.719C>T (p.Pro240Leu) c.1001C>T (p.Pro334Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485879G>C | CA354406158 | GATA2 | c.719C>G (p.Pro240Arg) c.1001C>G (p.Pro334Arg) | |
| 3 | g.128485879G= | CA1400719254 | GATA2 | c.719C= (p.Pro240=) c.1001C= (p.Pro334=) | |
| 3 | g.128485879G>T | CA354406155 | GATA2 | c.719C>A (p.Pro240His) c.1001C>A (p.Pro334His) | |
| 3 | g.128485880G>A | CA354406163 | GATA2 | c.718C>T (p.Pro240Ser) c.1000C>T (p.Pro334Ser) | dbSNP |
| 3 | g.128485880G>C | CA354406160 | GATA2 | c.718C>G (p.Pro240Ala) c.1000C>G (p.Pro334Ala) | |
| 3 | g.128485880G>T | CA354406161 | GATA2 | c.718C>A (p.Pro240Thr) c.1000C>A (p.Pro334Thr) | |
| 3 | g.128485881C>A | CA354406165 | GATA2 | c.717G>T (p.Gln239His) c.999G>T (p.Gln333His) | |
| 3 | g.128485881C= | CA1400719257 | GATA2 | c.717G= (p.Gln239=) c.999G= (p.Gln333=) | |
| 3 | g.128485881C>G | CA354406166 | GATA2 | c.717G>C (p.Gln239His) c.999G>C (p.Gln333His) | |
| 3 | g.128485881C>T | CA435763972 | GATA2 | c.717G>A (p.Gln239=) c.999G>A (p.Gln333=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485882T>A | CA354406168 | GATA2 | c.716A>T (p.Gln239Leu) c.998A>T (p.Gln333Leu) | |
| 3 | g.128485882T>C | CA354406170 | GATA2 | c.716A>G (p.Gln239Arg) c.998A>G (p.Gln333Arg) | |
| 3 | g.128485882T>G | CA354406171 | GATA2 | c.716A>C (p.Gln239Pro) c.998A>C (p.Gln333Pro) | |
| 3 | g.128485883G>A | CA354406173 | GATA2 | c.715C>T (p.Gln239Ter) c.997C>T (p.Gln333Ter) | dbSNP |
| 3 | g.128485883G>C | CA354406174 | GATA2 | c.715C>G (p.Gln239Glu) c.997C>G (p.Gln333Glu) | |
| 3 | g.128485883G>T | CA354406176 | GATA2 | c.715C>A (p.Gln239Lys) c.997C>A (p.Gln333Lys) | |
| 3 | g.128485884G>A | CA435763976 | GATA2 | c.714C>T (p.Thr238=) c.996C>T (p.Thr332=) | gnomAD v4 |
| 3 | g.128485884G>C | CA83371801 | GATA2 | c.714C>G (p.Thr238=) c.996C>G (p.Thr332=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485884G= | CA1400719259 | GATA2 | c.714C= (p.Thr238=) c.996C= (p.Thr332=) | |
| 3 | g.128485884G>T | CA435763977 | GATA2 | c.714C>A (p.Thr238=) c.996C>A (p.Thr332=) | |
| 3 | g.128485885G>A | CA354406178 | GATA2 | c.713C>T (p.Thr238Ile) c.995C>T (p.Thr332Ile) | dbSNP gnomAD v4 COSMIC |
| 3 | g.128485885G>C | CA354406180 | GATA2 | c.713C>G (p.Thr238Ser) c.995C>G (p.Thr332Ser) | |
| 3 | g.128485885G= | CA1400719262 | GATA2 | c.713C= (p.Thr238=) c.995C= (p.Thr332=) | |
| 3 | g.128485885G>T | CA354406181 | GATA2 | c.713C>A (p.Thr238Asn) c.995C>A (p.Thr332Asn) | ClinVar |
| 3 | g.128485886T>A | CA354406186 | GATA2 | c.712A>T (p.Thr238Ser) c.994A>T (p.Thr332Ser) | |
| 3 | g.128485886T>C | CA354406183 | GATA2 | c.712A>G (p.Thr238Ala) c.994A>G (p.Thr332Ala) | |
| 3 | g.128485886T>G | CA354406185 | GATA2 | c.712A>C (p.Thr238Pro) c.994A>C (p.Thr332Pro) | dbSNP |
| 3 | g.128485887G>A | CA435763981 | GATA2 | c.711C>T (p.Gly237=) c.993C>T (p.Gly331=) | ClinVar |
| 3 | g.128485887G>C | CA435763982 | GATA2 | c.711C>G (p.Gly237=) c.993C>G (p.Gly331=) | gnomAD v4 |
| 3 | g.128485887G>T | CA435763983 | GATA2 | c.711C>A (p.Gly237=) c.993C>A (p.Gly331=) | |
| 3 | g.128485888C>A | CA354406187 | GATA2 | c.710G>T (p.Gly237Val) c.992G>T (p.Gly331Val) | |
| 3 | g.128485888C= | CA1400719265 | GATA2 | c.710G= (p.Gly237=) c.992G= (p.Gly331=) | |
| 3 | g.128485888C>G | CA354406188 | GATA2 | c.710G>C (p.Gly237Ala) c.992G>C (p.Gly331Ala) | |
| 3 | g.128485888C>T | CA2599971 | GATA2 | c.710G>A (p.Gly237Asp) c.992G>A (p.Gly331Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485890del | CA1139532792 | GATA2 | c.710del (p.Gly237AlafsTer?) c.992del (p.Gly331AlafsTer?) | ClinVar dbSNP |
| 3 | g.128485889C>A | CA354406191 | GATA2 | c.709G>T (p.Gly237Cys) c.991G>T (p.Gly331Cys) | |
| 3 | g.128485889C>G | CA354406192 | GATA2 | c.709G>C (p.Gly237Arg) c.991G>C (p.Gly331Arg) | |
| 3 | g.128485889C>T | CA354406194 | GATA2 | c.709G>A (p.Gly237Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP |
| 3 | g.128485890C>A | CA354406195 | GATA2 | c.708G>T (p.Met236Ile) c.990G>T (p.Met330Ile) | |
| 3 | g.128485890C>G | CA354406197 | GATA2 | c.708G>C (p.Met236Ile) c.990G>C (p.Met330Ile) | |
| 3 | g.128485890C>T | CA354406199 | GATA2 | c.708G>A (p.Met236Ile) c.990G>A (p.Met330Ile) | |
| 3 | g.128485891A= | CA1400719271 | GATA2 | c.707T= (p.Met236=) c.989T= (p.Met330=) | |
| 3 | g.128485891A>C | CA354406200 | GATA2 | c.707T>G (p.Met236Arg) c.989T>G (p.Met330Arg) | |
| 3 | g.128485891A>G | CA2599972 | GATA2 | c.707T>C (p.Met236Thr) c.989T>C (p.Met330Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485891A>T | CA354406202 | GATA2 | c.707T>A (p.Met236Lys) c.989T>A (p.Met330Lys) | |
| 3 | g.128485892T>A | CA354406205 | GATA2 | c.706A>T (p.Met236Leu) c.988A>T (p.Met330Leu) | ClinVar dbSNP |
| 3 | g.128485892T>C | CA2599973 | GATA2 | c.706A>G (p.Met236Val) c.988A>G (p.Met330Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485892T>G | CA2599974 | GATA2 | c.706A>C (p.Met236Leu) c.988A>C (p.Met330Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485892T= | CA1400719275 | GATA2 | c.706A= (p.Met236=) c.988A= (p.Met330=) | |
| 3 | g.128485893A>C | CA435763990 | GATA2 | c.705T>G (p.Thr235=) c.987T>G (p.Thr329=) | |
| 3 | g.128485893A>G | CA435763991 | GATA2 | c.705T>C (p.Thr235=) c.987T>C (p.Thr329=) | |
| 3 | g.128485893A>T | CA435763992 | GATA2 | c.705T>A (p.Thr235=) c.987T>A (p.Thr329=) | |
| 3 | g.128485894G>A | CA354406206 | GATA2 | c.704C>T (p.Thr235Ile) c.986C>T (p.Thr329Ile) | |
| 3 | g.128485894G>C | CA354406207 | GATA2 | c.704C>G (p.Thr235Ser) c.986C>G (p.Thr329Ser) | |
| 3 | g.128485894G= | CA1400719279 | GATA2 | c.704C= (p.Thr235=) c.986C= (p.Thr329=) | |
| 3 | g.128485894G>T | CA83371814 | GATA2 | c.704C>A (p.Thr235Asn) c.986C>A (p.Thr329Asn) | dbSNP |
| 3 | g.128485895T>A | CA354406210 | GATA2 | c.703A>T (p.Thr235Ser) c.985A>T (p.Thr329Ser) | |
| 3 | g.128485895T>C | CA83371819 | GATA2 | c.703A>G (p.Thr235Ala) c.985A>G (p.Thr329Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485895T>G | CA354406212 | GATA2 | c.703A>C (p.Thr235Pro) c.985A>C (p.Thr329Pro) | |
| 3 | g.128485895T= | CA1400719282 | GATA2 | c.703A= (p.Thr235=) c.985A= (p.Thr329=) | |
| 3 | g.128485896A>C | CA435763997 | GATA2 | c.702T>G (p.Ala234=) c.984T>G (p.Ala328=) | |
| 3 | g.128485896A>G | CA435763998 | GATA2 | c.702T>C (p.Ala234=) c.984T>C (p.Ala328=) | ClinVar dbSNP |
| 3 | g.128485896A>T | CA435763999 | GATA2 | c.702T>A (p.Ala234=) c.984T>A (p.Ala328=) | ClinVar |
| 3 | g.128485897G>A | CA354406214 | GATA2 | c.701C>T (p.Ala234Val) c.983C>T (p.Ala328Val) | gnomAD v4 |
| 3 | g.128485897G>C | CA354406216 | GATA2 | c.701C>G (p.Ala234Gly) c.983C>G (p.Ala328Gly) | ClinVar |
| 3 | g.128485897G>T | CA354406217 | GATA2 | c.701C>A (p.Ala234Asp) c.983C>A (p.Ala328Asp) | |
| 3 | g.128485898C>A | CA354406219 | GATA2 | c.700G>T (p.Ala234Ser) c.982G>T (p.Ala328Ser) | |
| 3 | g.128485898C= | CA1400719284 | GATA2 | c.700G= (p.Ala234=) c.982G= (p.Ala328=) | |
| 3 | g.128485898C>G | CA354406221 | GATA2 | c.700G>C (p.Ala234Pro) c.982G>C (p.Ala328Pro) | gnomAD v4 |
| 3 | g.128485898C>T | CA2599975 | GATA2 | c.700G>A (p.Ala234Thr) c.982G>A (p.Ala328Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485899T>A | CA435764001 | GATA2 | c.699A>T (p.Leu233=) c.981A>T (p.Leu327=) | |
| 3 | g.128485899T>C | CA435764002 | GATA2 | c.699A>G (p.Leu233=) c.981A>G (p.Leu327=) | |
| 3 | g.128485899T>G | CA435764003 | GATA2 | c.699A>C (p.Leu233=) c.981A>C (p.Leu327=) | |
| 3 | g.128485900A= | CA1400719285 | GATA2 | c.698T= (p.Leu233=) c.980T= (p.Leu327=) | |
| 3 | g.128485900A>C | CA354406224 | GATA2 | c.698T>G (p.Leu233Arg) c.980T>G (p.Leu327Arg) | |
| 3 | g.128485900A>G | CA354406226 | GATA2 | c.698T>C (p.Leu233Pro) c.980T>C (p.Leu327Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485900A>T | CA354406223 | GATA2 | c.698T>A (p.Leu233Gln) c.980T>A (p.Leu327Gln) | |
| 3 | g.128485900dup | CA2577890768 | GATA2 | c.698dup (p.Ala234SerfsTer?) c.980dup (p.Ala328SerfsTer?) | |
| 3 | g.128485901G>A | CA435764004 | GATA2 | c.697C>T (p.Leu233=) c.979C>T (p.Leu327=) | ClinVar gnomAD v4 |
| 3 | g.128485901G>C | CA2599976 | GATA2 | c.697C>G (p.Leu233Val) c.979C>G (p.Leu327Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485901G= | CA1400719286 | GATA2 | c.697C= (p.Leu233=) c.979C= (p.Leu327=) | |
| 3 | g.128485901G>T | CA354406228 | GATA2 | c.697C>A (p.Leu233Ile) c.979C>A (p.Leu327Ile) | dbSNP gnomAD v4 |
| 3 | g.128485902G>A | CA435764007 | GATA2 | c.696C>T (p.Gly232=) c.978C>T (p.Gly326=) | |
| 3 | g.128485902G>C | CA435764009 | GATA2 | c.696C>G (p.Gly232=) c.978C>G (p.Gly326=) | |
| 3 | g.128485902G>T | CA435764010 | GATA2 | c.696C>A (p.Gly232=) c.978C>A (p.Gly326=) | gnomAD v4 |
| 3 | g.128485903C>A | CA354406230 | GATA2 | c.695G>T (p.Gly232Val) c.977G>T (p.Gly326Val) | dbSNP |
| 3 | g.128485903C= | CA1400719287 | GATA2 | c.695G= (p.Gly232=) c.977G= (p.Gly326=) | |
| 3 | g.128485903C>G | CA354406231 | GATA2 | c.695G>C (p.Gly232Ala) c.977G>C (p.Gly326Ala) | ClinVar dbSNP |
| 3 | g.128485903C>T | CA354406232 | GATA2 | c.695G>A (p.Gly232Asp) c.977G>A (p.Gly326Asp) | dbSNP gnomAD v4 |
| 3 | g.128485904C>A | CA354406235 | GATA2 | c.694G>T (p.Gly232Cys) c.976G>T (p.Gly326Cys) | |
| 3 | g.128485904C>G | CA354406233 | GATA2 | c.694G>C (p.Gly232Arg) c.976G>C (p.Gly326Arg) | |
| 3 | g.128485904C>T | CA354406234 | GATA2 | c.694G>A (p.Gly232Ser) c.976G>A (p.Gly326Ser) | gnomAD v4 |
| 3 | g.128485905T>A | CA435764013 | GATA2 | c.693A>T (p.Pro231=) c.975A>T (p.Pro325=) | |
| 3 | g.128485905T>C | CA435764015 | GATA2 | c.693A>G (p.Pro231=) c.975A>G (p.Pro325=) | |
| 3 | g.128485905T>G | CA435764016 | GATA2 | c.693A>C (p.Pro231=) c.975A>C (p.Pro325=) | |
| 3 | g.128485906G>A | CA354406236 | GATA2 | c.692C>T (p.Pro231Leu) c.974C>T (p.Pro325Leu) | |
| 3 | g.128485906G>C | CA354406237 | GATA2 | c.692C>G (p.Pro231Arg) c.974C>G (p.Pro325Arg) | gnomAD v4 |
| 3 | g.128485906G>T | CA354406238 | GATA2 | c.692C>A (p.Pro231Gln) c.974C>A (p.Pro325Gln) | |
| 3 | g.128485907G>A | CA354406239 | GATA2 | c.691C>T (p.Pro231Ser) c.973C>T (p.Pro325Ser) | gnomAD v4 COSMIC |
| 3 | g.128485907G>C | CA354406240 | GATA2 | c.691C>G (p.Pro231Ala) c.973C>G (p.Pro325Ala) | |
| 3 | g.128485907G>T | CA354406241 | GATA2 | c.691C>A (p.Pro231Thr) c.973C>A (p.Pro325Thr) | |
| 3 | g.128485908G>A | CA435764018 | GATA2 | c.690C>T (p.Arg230=) c.972C>T (p.Arg324=) | gnomAD v4 |
| 3 | g.128485908G>C | CA435764020 | GATA2 | c.690C>G (p.Arg230=) c.972C>G (p.Arg324=) | |
| 3 | g.128485908G>T | CA435764022 | GATA2 | c.690C>A (p.Arg230=) c.972C>A (p.Arg324=) | |
| 3 | g.128485909C>A | CA354406244 | GATA2 | c.689G>T (p.Arg230Leu) c.971G>T (p.Arg324Leu) | ClinVar dbSNP |
| 3 | g.128485909C= | CA1400719288 | GATA2 | c.689G= (p.Arg230=) c.971G= (p.Arg324=) | |
| 3 | g.128485909C>G | CA354406243 | GATA2 | c.689G>C (p.Arg230Pro) c.971G>C (p.Arg324Pro) | |
| 3 | g.128485909C>T | CA354406242 | GATA2 | c.689G>A (p.Arg230His) c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485910G>A | CA2599977 | GATA2 | c.688C>T (p.Arg230Cys) c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128485910G>C | CA354406245 | GATA2 | c.688C>G (p.Arg230Gly) c.970C>G (p.Arg324Gly) | ClinVar dbSNP |
| 3 | g.128485910G= | CA1400719289 | GATA2 | c.688C= (p.Arg230=) c.970C= (p.Arg324=) | |
| 3 | g.128485910G>T | CA354406246 | GATA2 | c.688C>A (p.Arg230Ser) c.970C>A (p.Arg324Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485911C>A | CA435764023 | GATA2 | c.687G>T (p.Leu229=) c.969G>T (p.Leu323=) | |
| 3 | g.128485911C>G | CA435764024 | GATA2 | c.687G>C (p.Leu229=) c.969G>C (p.Leu323=) | |
| 3 | g.128485911C>T | CA435764026 | GATA2 | c.687G>A (p.Leu229=) c.969G>A (p.Leu323=) | ClinVar |
| 3 | g.128485912A>C | CA354406247 | GATA2 | c.686T>G (p.Leu229Arg) c.968T>G (p.Leu323Arg) | |
| 3 | g.128485912A>G | CA354406249 | GATA2 | c.686T>C (p.Leu229Pro) c.968T>C (p.Leu323Pro) | |
| 3 | g.128485912A>T | CA354406248 | GATA2 | c.686T>A (p.Leu229Gln) c.968T>A (p.Leu323Gln) | |
| 3 | g.128485913G>A | CA435764027 | GATA2 | c.685C>T (p.Leu229=) c.967C>T (p.Leu323=) | |
| 3 | g.128485913G>C | CA354406250 | GATA2 | c.685C>G (p.Leu229Val) c.967C>G (p.Leu323Val) | |
| 3 | g.128485913G>T | CA354406251 | GATA2 | c.685C>A (p.Leu229Met) c.967C>A (p.Leu323Met) | |
| 3 | g.128485916del | CA1139532791 | GATA2 | c.685del (p.Leu229CysfsTer5) c.967del (p.Leu323CysfsTer5) | ClinVar dbSNP |
| 3 | g.128485914G>A | CA435764029 | GATA2 | c.684C>T (p.Pro228=) c.966C>T (p.Pro322=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128485914G>C | CA435764031 | GATA2 | c.684C>G (p.Pro228=) c.966C>G (p.Pro322=) | |
| 3 | g.128485914G= | CA1400719290 | GATA2 | c.684C= (p.Pro228=) c.966C= (p.Pro322=) | |
| 3 | g.128485914G>T | CA83371829 | GATA2 | c.684C>A (p.Pro228=) c.966C>A (p.Pro322=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485915G>A | CA354406252 | GATA2 | c.683C>T (p.Pro228Leu) c.965C>T (p.Pro322Leu) | ClinVar gnomAD v4 COSMIC |
| 3 | g.128485915G>C | CA354406253 | GATA2 | c.683C>G (p.Pro228Arg) c.965C>G (p.Pro322Arg) | |
| 3 | g.128485915G>T | CA354406254 | GATA2 | c.683C>A (p.Pro228His) c.965C>A (p.Pro322His) | |
| 3 | g.128485915_128485918del | CA2586965903 | GATA2 | c.680_683del (p.Ser227ThrfsTer6) c.962_965del (p.Ser321ThrfsTer6) | |
| 3 | g.128485916G>A | CA2599978 | GATA2 | c.682C>T (p.Pro228Ser) c.964C>T (p.Pro322Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485916G>C | CA354406255 | GATA2 | c.682C>G (p.Pro228Ala) c.964C>G (p.Pro322Ala) | |
| 3 | g.128485916G= | CA1400719291 | GATA2 | c.682C= (p.Pro228=) c.964C= (p.Pro322=) | |
| 3 | g.128485916G>T | CA16611247 | GATA2 | c.682C>A (p.Pro228Thr) c.964C>A (p.Pro322Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485917A= | CA1400719292 | GATA2 | c.681T= (p.Ser227=) c.963T= (p.Ser321=) | |
| 3 | g.128485917A>C | CA354406256 | GATA2 | c.681T>G (p.Ser227Arg) c.963T>G (p.Ser321Arg) | dbSNP |
| 3 | g.128485917A>G | CA435764034 | GATA2 | c.681T>C (p.Ser227=) c.963T>C (p.Ser321=) | |
| 3 | g.128485917A>T | CA354406257 | GATA2 | c.681T>A (p.Ser227Arg) c.963T>A (p.Ser321Arg) | |
| 3 | g.128485918C>A | CA354406260 | GATA2 | c.680G>T (p.Ser227Ile) c.962G>T (p.Ser321Ile) | |
| 3 | g.128485918C= | CA1400719293 | GATA2 | c.680G= (p.Ser227=) c.962G= (p.Ser321=) | |
| 3 | g.128485918C>G | CA354406259 | GATA2 | c.680G>C (p.Ser227Thr) c.962G>C (p.Ser321Thr) | dbSNP |
| 3 | g.128485918C>T | CA354406258 | GATA2 | c.680G>A (p.Ser227Asn) c.962G>A (p.Ser321Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485919T>A | CA354406261 | GATA2 | c.679A>T (p.Ser227Cys) c.961A>T (p.Ser321Cys) | |
| 3 | g.128485919T>C | CA354406262 | GATA2 | c.679A>G (p.Ser227Gly) c.961A>G (p.Ser321Gly) | |
| 3 | g.128485919T>G | CA354406263 | GATA2 | c.679A>C (p.Ser227Arg) c.961A>C (p.Ser321Arg) | |
| 3 | g.128485920G>A | CA435764036 | GATA2 | c.678C>T (p.Gly226=) c.960C>T (p.Gly320=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485920G>C | CA435764038 | GATA2 | c.678C>G (p.Gly226=) c.960C>G (p.Gly320=) | ClinVar dbSNP |
| 3 | g.128485920G>T | CA435764040 | GATA2 | c.678C>A (p.Gly226=) c.960C>A (p.Gly320=) | |
| 3 | g.128485921C>A | CA354406264 | GATA2 | c.677G>T (p.Gly226Val) c.959G>T (p.Gly320Val) | |
| 3 | g.128485921C>G | CA354406265 | GATA2 | c.677G>C (p.Gly226Ala) c.959G>C (p.Gly320Ala) | |
| 3 | g.128485921C>T | CA354406266 | GATA2 | c.677G>A (p.Gly226Asp) c.959G>A (p.Gly320Asp) | ClinVar dbSNP |
| 3 | g.128485922C>A | CA354406267 | GATA2 | c.676G>T (p.Gly226Cys) c.958G>T (p.Gly320Cys) | |
| 3 | g.128485922C>G | CA354406268 | GATA2 | c.676G>C (p.Gly226Arg) c.958G>C (p.Gly320Arg) | |
| 3 | g.128485922C>T | CA354406269 | GATA2 | c.676G>A (p.Gly226Ser) c.958G>A (p.Gly320Ser) | ClinVar dbSNP |
| 3 | g.128485923A= | CA1400719294 | GATA2 | c.675T= (p.Ser225=) c.957T= (p.Ser319=) | |
| 3 | g.128485923A>C | CA354406270 | GATA2 | c.675T>G (p.Ser225Arg) c.957T>G (p.Ser319Arg) | dbSNP |
| 3 | g.128485923A>G | CA435764042 | GATA2 | c.675T>C (p.Ser225=) c.957T>C (p.Ser319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485923A>T | CA354406271 | GATA2 | c.675T>A (p.Ser225Arg) c.957T>A (p.Ser319Arg) | |
| 3 | g.128485923_128485942del | CA2740090991 | GATA2 | c.656_675del (p.Glu219GlyfsTer?) c.938_957del (p.Glu313GlyfsTer?) | ClinVar |
| 3 | g.128485924C>A | CA354406272 | GATA2 | c.674G>T (p.Ser225Ile) c.956G>T (p.Ser319Ile) | ClinVar dbSNP |
| 3 | g.128485924C= | CA1400719295 | GATA2 | c.674G= (p.Ser225=) c.956G= (p.Ser319=) | |
| 3 | g.128485924C>G | CA354406273 | GATA2 | c.674G>C (p.Ser225Thr) c.956G>C (p.Ser319Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485924C>T | CA2599979 | GATA2 | c.674G>A (p.Ser225Asn) c.956G>A (p.Ser319Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485925T>A | CA354406274 | GATA2 | c.673A>T (p.Ser225Cys) c.955A>T (p.Ser319Cys) | |
| 3 | g.128485925T>C | CA354406275 | GATA2 | c.673A>G (p.Ser225Gly) c.955A>G (p.Ser319Gly) | ClinVar gnomAD v4 |
| 3 | g.128485925T>G | CA354406276 | GATA2 | c.673A>C (p.Ser225Arg) c.955A>C (p.Ser319Arg) | |
| 3 | g.128485926T>A | CA354406277 | GATA2 | c.672A>T (p.Glu224Asp) c.954A>T (p.Glu318Asp) | |
| 3 | g.128485926T>C | CA435764044 | GATA2 | c.672A>G (p.Glu224=) c.954A>G (p.Glu318=) | |
| 3 | g.128485926T>G | CA354406278 | GATA2 | c.672A>C (p.Glu224Asp) c.954A>C (p.Glu318Asp) | |
| 3 | g.128485927T>A | CA354406279 | GATA2 | c.671A>T (p.Glu224Val) c.953A>T (p.Glu318Val) | |
| 3 | g.128485927T>C | CA354406280 | GATA2 | c.671A>G (p.Glu224Gly) c.953A>G (p.Glu318Gly) | |
| 3 | g.128485927T>G | CA354406281 | GATA2 | c.671A>C (p.Glu224Ala) c.953A>C (p.Glu318Ala) | |
| 3 | g.128485928C>A | CA354406282 | GATA2 | c.670G>T (p.Glu224Ter) c.952G>T (p.Glu318Ter) | ClinVar dbSNP |
| 3 | g.128485928C>G | CA354406283 | GATA2 | c.670G>C (p.Glu224Gln) c.952G>C (p.Glu318Gln) | gnomAD v4 |
| 3 | g.128485928C>T | CA354406284 | GATA2 | c.670G>A (p.Glu224Lys) c.952G>A (p.Glu318Lys) | |
| 3 | g.128485929C>A | CA354406285 | GATA2 | c.669G>T (p.Met223Ile) c.951G>T (p.Met317Ile) | |
| 3 | g.128485929C= | CA1400719296 | GATA2 | c.669G= (p.Met223=) c.951G= (p.Met317=) | |
| 3 | g.128485929C>G | CA354406286 | GATA2 | c.669G>C (p.Met223Ile) c.951G>C (p.Met317Ile) | |
| 3 | g.128485929C>T | CA2599980 | GATA2 | c.669G>A (p.Met223Ile) c.951G>A (p.Met317Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485930A>C | CA354406287 | GATA2 | c.668T>G (p.Met223Arg) c.950T>G (p.Met317Arg) | |
| 3 | g.128485930A>G | CA354406288 | GATA2 | c.668T>C (p.Met223Thr) c.950T>C (p.Met317Thr) | |
| 3 | g.128485930A>T | CA354406289 | GATA2 | c.668T>A (p.Met223Lys) c.950T>A (p.Met317Lys) | |
| 3 | g.128485931T>A | CA354406290 | GATA2 | c.667A>T (p.Met223Leu) c.949A>T (p.Met317Leu) | |
| 3 | g.128485931T>C | CA354406291 | GATA2 | c.667A>G (p.Met223Val) c.949A>G (p.Met317Val) | |
| 3 | g.128485931T>G | CA354406292 | GATA2 | c.667A>C (p.Met223Leu) c.949A>C (p.Met317Leu) | |
| 3 | g.128485932C>A | CA354406293 | GATA2 | c.666G>T (p.Lys222Asn) c.948G>T (p.Lys316Asn) | ClinVar |
| 3 | g.128485932C>G | CA354406294 | GATA2 | c.666G>C (p.Lys222Asn) c.948G>C (p.Lys316Asn) | |
| 3 | g.128485932C>T | CA435764051 | GATA2 | c.666G>A (p.Lys222=) c.948G>A (p.Lys316=) | COSMIC |
| 3 | g.128485933T>A | CA354406295 | GATA2 | c.665A>T (p.Lys222Met) c.947A>T (p.Lys316Met) | |
| 3 | g.128485933T>C | CA354406296 | GATA2 | c.665A>G (p.Lys222Arg) c.947A>G (p.Lys316Arg) | |
| 3 | g.128485933T>G | CA354406297 | GATA2 | c.665A>C (p.Lys222Thr) c.947A>C (p.Lys316Thr) | |
| 3 | g.128485934T>A | CA354406298 | GATA2 | c.664A>T (p.Lys222Ter) c.946A>T (p.Lys316Ter) | |
| 3 | g.128485934T>C | CA354406299 | GATA2 | c.664A>G (p.Lys222Glu) c.946A>G (p.Lys316Glu) | |
| 3 | g.128485934T>G | CA354406300 | GATA2 | c.664A>C (p.Lys222Gln) c.946A>C (p.Lys316Gln) | |
| 3 | g.128485935C>A | CA354406302 | GATA2 | c.663G>T (p.Met221Ile) c.945G>T (p.Met315Ile) | ClinVar |
| 3 | g.128485935C>G | CA354406303 | GATA2 | c.663G>C (p.Met221Ile) c.945G>C (p.Met315Ile) | |
| 3 | g.128485935C>T | CA354406301 | GATA2 | c.663G>A (p.Met221Ile) c.945G>A (p.Met315Ile) | ClinVar dbSNP |
| 3 | g.128485936A>C | CA354406304 | GATA2 | c.662T>G (p.Met221Arg) c.944T>G (p.Met315Arg) | gnomAD v4 |
| 3 | g.128485936A>G | CA354406305 | GATA2 | c.662T>C (p.Met221Thr) c.944T>C (p.Met315Thr) | |
| 3 | g.128485936A>T | CA354406306 | GATA2 | c.662T>A (p.Met221Lys) c.944T>A (p.Met315Lys) | |
| 3 | g.128485937T>A | CA354406307 | GATA2 | c.661A>T (p.Met221Leu) c.943A>T (p.Met315Leu) | gnomAD v4 COSMIC |
| 3 | g.128485937T>C | CA354406308 | GATA2 | c.661A>G (p.Met221Val) c.943A>G (p.Met315Val) | |
| 3 | g.128485937T>G | CA354406309 | GATA2 | c.661A>C (p.Met221Leu) c.943A>C (p.Met315Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485937T= | CA1400719297 | GATA2 | c.661A= (p.Met221=) c.943A= (p.Met315=) | |
| 3 | g.128485938G>A | CA435764056 | GATA2 | c.660C>T (p.Ser220=) c.942C>T (p.Ser314=) | ClinVar dbSNP |
| 3 | g.128485938G>C | CA354406311 | GATA2 | c.660C>G (p.Ser220Arg) c.942C>G (p.Ser314Arg) | |
| 3 | g.128485938G= | CA1400719298 | GATA2 | c.660C= (p.Ser220=) c.942C= (p.Ser314=) | |
| 3 | g.128485938G>T | CA354406310 | GATA2 | c.660C>A (p.Ser220Arg) c.942C>A (p.Ser314Arg) | |
| 3 | g.128485939C>A | CA354406312 | GATA2 | c.659G>T (p.Ser220Ile) c.941G>T (p.Ser314Ile) | ClinVar dbSNP |
| 3 | g.128485939C= | CA1400719299 | GATA2 | c.659G= (p.Ser220=) c.941G= (p.Ser314=) | |
| 3 | g.128485939C>G | CA354406313 | GATA2 | c.659G>C (p.Ser220Thr) c.941G>C (p.Ser314Thr) | gnomAD v4 |
| 3 | g.128485939C>T | CA354406314 | GATA2 | c.659G>A (p.Ser220Asn) c.941G>A (p.Ser314Asn) | |
| 3 | g.128485940T>A | CA354406315 | GATA2 | c.658A>T (p.Ser220Cys) c.940A>T (p.Ser314Cys) | |
| 3 | g.128485940T>C | CA354406316 | GATA2 | c.658A>G (p.Ser220Gly) c.940A>G (p.Ser314Gly) | |
| 3 | g.128485940T>G | CA354406317 | GATA2 | c.658A>C (p.Ser220Arg) c.940A>C (p.Ser314Arg) | |
| 3 | g.128485941C>A | CA354406319 | GATA2 | c.657G>T (p.Glu219Asp) c.939G>T (p.Glu313Asp) | ClinVar dbSNP |
| 3 | g.128485941C= | CA1400719300 | GATA2 | c.657G= (p.Glu219=) c.939G= (p.Glu313=) | |
| 3 | g.128485941C>G | CA354406318 | GATA2 | c.657G>C (p.Glu219Asp) c.939G>C (p.Glu313Asp) | |
| 3 | g.128485941C>T | CA2599981 | GATA2 | c.657G>A (p.Glu219=) c.939G>A (p.Glu313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485942T>A | CA354406320 | GATA2 | c.656A>T (p.Glu219Val) c.938A>T (p.Glu313Val) | |
| 3 | g.128485942T>C | CA354406321 | GATA2 | c.656A>G (p.Glu219Gly) c.938A>G (p.Glu313Gly) | |
| 3 | g.128485942T>G | CA354406322 | GATA2 | c.656A>C (p.Glu219Ala) c.938A>C (p.Glu313Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485942T= | CA1400719301 | GATA2 | c.656A= (p.Glu219=) c.938A= (p.Glu313=) | |
| 3 | g.128485943C>A | CA354406323 | GATA2 | c.655G>T (p.Glu219Ter) c.937G>T (p.Glu313Ter) | |
| 3 | g.128485943C>G | CA354406324 | GATA2 | c.655G>C (p.Glu219Gln) c.937G>C (p.Glu313Gln) | |
| 3 | g.128485943C>T | CA354406325 | GATA2 | c.655G>A (p.Glu219Lys) c.937G>A (p.Glu313Lys) | |
| 3 | g.128485944dup | CA915941567 | GATA2 | c.655dup (p.Glu219GlyfsTer?) c.937dup (p.Glu313GlyfsTer?) | ClinVar dbSNP |
| 3 | g.128485943_128485944dup | CA2580618286 | GATA2 | c.654_655dup (p.Glu219GlyfsTer4) c.936_937dup (p.Glu313GlyfsTer4) | |
| 3 | g.128485944C>A | CA435764060 | GATA2 | c.654G>T (p.Thr218=) c.936G>T (p.Thr312=) | |
| 3 | g.128485944C= | CA1400719302 | GATA2 | c.654G= (p.Thr218=) c.936G= (p.Thr312=) | |
| 3 | g.128485944C>G | CA435764061 | GATA2 | c.654G>C (p.Thr218=) c.936G>C (p.Thr312=) | gnomAD v4 |
| 3 | g.128485944C>T | CA2599982 | GATA2 | c.654G>A (p.Thr218=) c.936G>A (p.Thr312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485945G>A | CA354406326 | GATA2 | c.653C>T (p.Thr218Met) c.935C>T (p.Thr312Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485945G>C | CA354406327 | GATA2 | c.653C>G (p.Thr218Arg) c.935C>G (p.Thr312Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485945G= | CA1400719303 | GATA2 | c.653C= (p.Thr218=) c.935C= (p.Thr312=) | |
| 3 | g.128485945G>T | CA354406328 | GATA2 | c.653C>A (p.Thr218Lys) c.935C>A (p.Thr312Lys) | ClinVar gnomAD v4 |
| 3 | g.128485945_128485949dup | CA658796373 | GATA2 | c.649_653dup (p.Glu219Ter) c.931_935dup (p.Glu313Ter) | ClinVar dbSNP |
| 3 | g.128485946T>A | CA354406329 | GATA2 | c.652A>T (p.Thr218Ser) c.934A>T (p.Thr312Ser) | |
| 3 | g.128485946T>C | CA354406330 | GATA2 | c.652A>G (p.Thr218Ala) c.934A>G (p.Thr312Ala) | |
| 3 | g.128485946T>G | CA354406331 | GATA2 | c.652A>C (p.Thr218Pro) c.934A>C (p.Thr312Pro) | |
| 3 | g.128485947C>A | CA435764064 | GATA2 | c.651G>T (p.Leu217=) c.933G>T (p.Leu311=) | |
| 3 | g.128485947C>G | CA435764065 | GATA2 | c.651G>C (p.Leu217=) c.933G>C (p.Leu311=) | |
| 3 | g.128485947C>T | CA435764066 | GATA2 | c.651G>A (p.Leu217=) c.933G>A (p.Leu311=) | |
| 3 | g.128485948A>C | CA354406332 | GATA2 | c.650T>G (p.Leu217Arg) c.932T>G (p.Leu311Arg) | |
| 3 | g.128485948A>G | CA354406334 | GATA2 | c.650T>C (p.Leu217Pro) c.932T>C (p.Leu311Pro) | |
| 3 | g.128485948A>T | CA354406333 | GATA2 | c.650T>A (p.Leu217Gln) c.932T>A (p.Leu311Gln) | |
| 3 | g.128485949G>A | CA2599983 | GATA2 | c.649C>T (p.Leu217=) c.931C>T (p.Leu311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485949G>C | CA354406335 | GATA2 | c.649C>G (p.Leu217Val) c.931C>G (p.Leu311Val) | |
| 3 | g.128485949G= | CA1400719304 | GATA2 | c.649C= (p.Leu217=) c.931C= (p.Leu311=) | |
| 3 | g.128485949G>T | CA354406336 | GATA2 | c.649C>A (p.Leu217Met) c.931C>A (p.Leu311Met) | |
| 3 | g.128485949_128485950insCGTCTGAACGGCGAAGTATTGGGGATTCAGTGCAATCTCATCGATTTTCTGCGCCCCCTTTCGAT | CA2758339379 | GATA2 | c.648_649insATCGAAAGGGGGCGCAGAAAATCGATGAGATTGCACTGAATCCCCAATACTTCGCCGTTCAGACG (p.Leu217IlefsTer13) c.930_931insATCGAAAGGGGGCGCAGAAAATCGATGAGATTGCACTGAATCCCCAATACTTCGCCGTTCAGACG (p.Leu311IlefsTer13) | |
| 3 | g.128485950T>A | CA435764069 | GATA2 | c.648A>T (p.Ser216=) c.930A>T (p.Ser310=) | |
| 3 | g.128485950T>C | CA435764070 | GATA2 | c.648A>G (p.Ser216=) c.930A>G (p.Ser310=) | |
| 3 | g.128485950T>G | CA435764071 | GATA2 | c.648A>C (p.Ser216=) c.930A>C (p.Ser310=) | |
| 3 | g.128485951G>A | CA354406337 | GATA2 | c.647C>T (p.Ser216Leu) c.929C>T (p.Ser310Leu) | ClinVar gnomAD v4 |
| 3 | g.128485951G>C | CA354406338 | GATA2 | c.647C>G (p.Ser216Ter) c.929C>G (p.Ser310Ter) | |
| 3 | g.128485951G>T | CA354406339 | GATA2 | c.647C>A (p.Ser216Ter) c.929C>A (p.Ser310Ter) | |
| 3 | g.128485952A>C | CA354406340 | GATA2 | c.646T>G (p.Ser216Ala) c.928T>G (p.Ser310Ala) | |
| 3 | g.128485952A>G | CA354406341 | GATA2 | c.646T>C (p.Ser216Pro) c.928T>C (p.Ser310Pro) | |
| 3 | g.128485952A>T | CA354406342 | GATA2 | c.646T>A (p.Ser216Thr) c.928T>A (p.Ser310Thr) | |
| 3 | g.128485953C>A | CA435764074 | GATA2 | c.645G>T (p.Val215=) c.927G>T (p.Val309=) | |
| 3 | g.128485953C>G | CA435764076 | GATA2 | c.645G>C (p.Val215=) c.927G>C (p.Val309=) | |
| 3 | g.128485953C>T | CA435764077 | GATA2 | c.645G>A (p.Val215=) c.927G>A (p.Val309=) | ClinVar |
| 3 | g.128485954A>C | CA354406343 | GATA2 | c.644T>G (p.Val215Gly) c.926T>G (p.Val309Gly) | |
| 3 | g.128485954A>G | CA354406344 | GATA2 | c.644T>C (p.Val215Ala) c.926T>C (p.Val309Ala) | |
| 3 | g.128485954A>T | CA354406345 | GATA2 | c.644T>A (p.Val215Glu) c.926T>A (p.Val309Glu) | |
| 3 | g.128485955C>A | CA354406347 | GATA2 | c.643G>T (p.Val215Leu) c.925G>T (p.Val309Leu) | |
| 3 | g.128485955C>G | CA354406348 | GATA2 | c.643G>C (p.Val215Leu) c.925G>C (p.Val309Leu) | |
| 3 | g.128485955C>T | CA354406346 | GATA2 | c.643G>A (p.Val215Met) c.925G>A (p.Val309Met) | ClinVar |
| 3 | g.128485957_128485970del | CA1139768473 | GATA2 | c.630_643del (p.Lys212ThrfsTer?) c.912_925del (p.Lys306ThrfsTer?) | |
| 3 | g.128485956C>A | CA354406349 | GATA2 | c.642G>T (p.Gln214His) c.924G>T (p.Gln308His) | |
| 3 | g.128485956C>G | CA354406350 | GATA2 | c.642G>C (p.Gln214His) c.924G>C (p.Gln308His) | gnomAD v4 COSMIC |
| 3 | g.128485956C>T | CA435764081 | GATA2 | c.642G>A (p.Gln214=) c.924G>A (p.Gln308=) | |
| 3 | g.128485957T>A | CA354406351 | GATA2 | c.641A>T (p.Gln214Leu) c.923A>T (p.Gln308Leu) | |
| 3 | g.128485957T>C | CA354406352 | GATA2 | c.641A>G (p.Gln214Arg) c.923A>G (p.Gln308Arg) | |
| 3 | g.128485957T>G | CA354406353 | GATA2 | c.641A>C (p.Gln214Pro) c.923A>C (p.Gln308Pro) | |
| 3 | g.128485958G>A | CA354406356 | GATA2 | c.640C>T (p.Gln214Ter) c.922C>T (p.Gln308Ter) | |
| 3 | g.128485958G>C | CA354406354 | GATA2 | c.640C>G (p.Gln214Glu) c.922C>G (p.Gln308Glu) | |
| 3 | g.128485958G>T | CA354406355 | GATA2 | c.640C>A (p.Gln214Lys) c.922C>A (p.Gln308Lys) | |
| 3 | g.128485959G>A | CA2599984 | GATA2 | c.639C>T (p.Tyr213=) c.921C>T (p.Tyr307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485959G>C | CA354406357 | GATA2 | c.639C>G (p.Tyr213Ter) c.921C>G (p.Tyr307Ter) | |
| 3 | g.128485959G= | CA1400719305 | GATA2 | c.639C= (p.Tyr213=) c.921C= (p.Tyr307=) | |
| 3 | g.128485959G>T | CA354406358 | GATA2 | c.639C>A (p.Tyr213Ter) c.921C>A (p.Tyr307Ter) | |
| 3 | g.128485960T>A | CA354406359 | GATA2 | c.638A>T (p.Tyr213Phe) c.920A>T (p.Tyr307Phe) | COSMIC |
| 3 | g.128485960T>C | CA354406360 | GATA2 | c.638A>G (p.Tyr213Cys) c.920A>G (p.Tyr307Cys) | gnomAD v4 |
| 3 | g.128485960T>G | CA354406361 | GATA2 | c.638A>C (p.Tyr213Ser) c.920A>C (p.Tyr307Ser) | |
| 3 | g.128485961A>C | CA354406363 | GATA2 | c.637T>G (p.Tyr213Asp) c.919T>G (p.Tyr307Asp) | |
| 3 | g.128485961A>G | CA354406364 | GATA2 | c.637T>C (p.Tyr213His) c.919T>C (p.Tyr307His) | ClinVar |
| 3 | g.128485961A>T | CA354406362 | GATA2 | c.637T>A (p.Tyr213Asn) c.919T>A (p.Tyr307Asn) | |
| 3 | g.128485962C>A | CA354406365 | GATA2 | c.636G>T (p.Lys212Asn) c.918G>T (p.Lys306Asn) | ClinVar dbSNP |
| 3 | g.128485962C= | CA1400719306 | GATA2 | c.636G= (p.Lys212=) c.918G= (p.Lys306=) | |
| 3 | g.128485962C>G | CA354406366 | GATA2 | c.636G>C (p.Lys212Asn) c.918G>C (p.Lys306Asn) | |
| 3 | g.128485962C>T | CA435764086 | GATA2 | c.636G>A (p.Lys212=) c.918G>A (p.Lys306=) | |
| 3 | g.128485963T>A | CA354406367 | GATA2 | c.635A>T (p.Lys212Met) c.917A>T (p.Lys306Met) | |
| 3 | g.128485963T>C | CA354406369 | GATA2 | c.635A>G (p.Lys212Arg) c.917A>G (p.Lys306Arg) | |
| 3 | g.128485963T>G | CA354406368 | GATA2 | c.635A>C (p.Lys212Thr) c.917A>C (p.Lys306Thr) | |
| 3 | g.128485964T>A | CA354406370 | GATA2 | c.634A>T (p.Lys212Ter) c.916A>T (p.Lys306Ter) | |
| 3 | g.128485964T>C | CA354406372 | GATA2 | c.634A>G (p.Lys212Glu) c.916A>G (p.Lys306Glu) | gnomAD v4 |
| 3 | g.128485964T>G | CA354406371 | GATA2 | c.634A>C (p.Lys212Gln) c.916A>C (p.Lys306Gln) | |
| 3 | g.128485965G>A | CA435764087 | GATA2 | c.633C>T (p.Val211=) c.915C>T (p.Val305=) | |
| 3 | g.128485965G>C | CA2599985 | GATA2 | c.633C>G (p.Val211=) c.915C>G (p.Val305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485965G= | CA1400719307 | GATA2 | c.633C= (p.Val211=) c.915C= (p.Val305=) | |
| 3 | g.128485965G>T | CA435764088 | GATA2 | c.633C>A (p.Val211=) c.915C>A (p.Val305=) | |
| 3 | g.128485966A= | CA1400719308 | GATA2 | c.632T= (p.Val211=) c.914T= (p.Val305=) | |
| 3 | g.128485966A>C | CA354406373 | GATA2 | c.632T>G (p.Val211Gly) c.914T>G (p.Val305Gly) | |
| 3 | g.128485966A>G | CA354406374 | GATA2 | c.632T>C (p.Val211Ala) c.914T>C (p.Val305Ala) | ClinVar dbSNP |
| 3 | g.128485966A>T | CA354406375 | GATA2 | c.632T>A (p.Val211Asp) c.914T>A (p.Val305Asp) | dbSNP |
| 3 | g.128485967del | CA2586965905 | GATA2 | c.631del (p.Val211SerfsTer7) c.913del (p.Val305SerfsTer7) | |
| 3 | g.128485967C>A | CA354406376 | GATA2 | c.631G>T (p.Val211Phe) c.913G>T (p.Val305Phe) | ClinVar |
| 3 | g.128485967C= | CA1400719309 | GATA2 | c.631G= (p.Val211=) c.913G= (p.Val305=) | |
| 3 | g.128485967C>G | CA16611364 | GATA2 | c.631G>C (p.Val211Leu) c.913G>C (p.Val305Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485967C>T | CA354406377 | GATA2 | c.631G>A (p.Val211Ile) c.913G>A (p.Val305Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128485969_128485971dup | CA658796374 | GATA2 | c.629_631dup (p.Gly210_Val211insGly) c.911_913dup (p.Gly304_Val305insGly) | ClinVar dbSNP |
| 3 | g.128485968G>A | CA435764090 | GATA2 | c.630C>T (p.Gly210=) c.912C>T (p.Gly304=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128485968G>C | CA435764091 | GATA2 | c.630C>G (p.Gly210=) c.912C>G (p.Gly304=) | |
| 3 | g.128485968G= | CA1400719310 | GATA2 | c.630C= (p.Gly210=) c.912C= (p.Gly304=) | |
| 3 | g.128485968G>T | CA435764092 | GATA2 | c.630C>A (p.Gly210=) c.912C>A (p.Gly304=) | COSMIC |
| 3 | g.128485968_128485971dup | CA1139532790 | GATA2 | c.627_630dup (p.Val211ArgfsTer?) c.909_912dup (p.Val305ArgfsTer?) | ClinVar dbSNP |