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.128486207C>A | CA354406965 | GATA2 | c.391G>T (p.Ala131Ser) c.673G>T (p.Ala225Ser) | |
3 | g.128486207C>G | CA354406962 | GATA2 | c.391G>C (p.Ala131Pro) c.673G>C (p.Ala225Pro) | |
3 | g.128486207C>T | CA354406960 | GATA2 | c.391G>A (p.Ala131Thr) c.673G>A (p.Ala225Thr) | ClinVar gnomAD v4 |
3 | g.128486208A>C | CA435763984 | GATA2 | c.390T>G (p.Ala130=) c.672T>G (p.Ala224=) | |
3 | g.128486208A>G | CA435763985 | GATA2 | c.390T>C (p.Ala130=) c.672T>C (p.Ala224=) | |
3 | g.128486208A>T | CA435763986 | GATA2 | c.390T>A (p.Ala130=) c.672T>A (p.Ala224=) | |
3 | g.128486209G>A | CA2600036 | GATA2 | c.389C>T (p.Ala130Val) c.671C>T (p.Ala224Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486209G>C | CA354406968 | GATA2 | c.389C>G (p.Ala130Gly) c.671C>G (p.Ala224Gly) | |
3 | g.128486209G= | CA1400719460 | GATA2 | c.389C= (p.Ala130=) c.671C= (p.Ala224=) | |
3 | g.128486209G>T | CA354406971 | GATA2 | c.389C>A (p.Ala130Asp) c.671C>A (p.Ala224Asp) | |
3 | g.128486210C>A | CA354406973 | GATA2 | c.388G>T (p.Ala130Ser) c.670G>T (p.Ala224Ser) | |
3 | g.128486210C= | CA1400719461 | GATA2 | c.388G= (p.Ala130=) c.670G= (p.Ala224=) | |
3 | g.128486210C>G | CA354406975 | GATA2 | c.388G>C (p.Ala130Pro) c.670G>C (p.Ala224Pro) | dbSNP |
3 | g.128486210C>T | CA354406977 | GATA2 | c.388G>A (p.Ala130Thr) c.670G>A (p.Ala224Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486211T>A | CA435763987 | GATA2 | c.387A>T (p.Ser129=) c.669A>T (p.Ser223=) | |
3 | g.128486211T>C | CA435763988 | GATA2 | c.387A>G (p.Ser129=) c.669A>G (p.Ser223=) | |
3 | g.128486211T>G | CA435763989 | GATA2 | c.387A>C (p.Ser129=) c.669A>C (p.Ser223=) | |
3 | g.128486212del | CA435763993 | GATA2 | c.386del (p.Ser129Ter) c.668del (p.Ser223Ter) | COSMIC |
3 | g.128486212G>A | CA354406979 | GATA2 | c.386C>T (p.Ser129Leu) c.668C>T (p.Ser223Leu) | |
3 | g.128486212G>C | CA354406981 | GATA2 | c.386C>G (p.Ser129Ter) c.668C>G (p.Ser223Ter) | |
3 | g.128486212G>T | CA354406984 | GATA2 | c.386C>A (p.Ser129Ter) c.668C>A (p.Ser223Ter) | gnomAD v4 |
3 | g.128486213A>C | CA354406986 | GATA2 | c.385T>G (p.Ser129Ala) c.667T>G (p.Ser223Ala) | |
3 | g.128486213A>G | CA354406990 | GATA2 | c.385T>C (p.Ser129Pro) c.667T>C (p.Ser223Pro) | |
3 | g.128486213A>T | CA354406992 | GATA2 | c.385T>A (p.Ser129Thr) c.667T>A (p.Ser223Thr) | |
3 | g.128486214G>A | CA435763994 | GATA2 | c.384C>T (p.Pro128=) c.666C>T (p.Pro222=) | gnomAD v4 |
3 | g.128486214G>C | CA435763995 | GATA2 | c.384C>G (p.Pro128=) c.666C>G (p.Pro222=) | ClinVar dbSNP |
3 | g.128486214G= | CA1400719462 | GATA2 | c.384C= (p.Pro128=) c.666C= (p.Pro222=) | |
3 | g.128486214G>T | CA435763996 | GATA2 | c.384C>A (p.Pro128=) c.666C>A (p.Pro222=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486217dup | CA2580068753 | GATA2 | c.384dup (p.Ser129LeufsTer?) c.666dup (p.Ser223LeufsTer?) | ClinVar |
3 | g.128486215G>A | CA354407000 | GATA2 | c.383C>T (p.Pro128Leu) c.665C>T (p.Pro222Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486215G>C | CA354406996 | GATA2 | c.383C>G (p.Pro128Arg) c.665C>G (p.Pro222Arg) | |
3 | g.128486215G= | CA1400719463 | GATA2 | c.383C= (p.Pro128=) c.665C= (p.Pro222=) | |
3 | g.128486215G>T | CA354406999 | GATA2 | c.383C>A (p.Pro128His) c.665C>A (p.Pro222His) | dbSNP gnomAD v4 |
3 | g.128486216_128486219dup | CA2837995087 | GATA2 | c.380_383dup (p.Ser129ProfsTer?) c.662_665dup (p.Ser223ProfsTer?) | |
3 | g.128486216G>A | CA354407003 | GATA2 | c.382C>T (p.Pro128Ser) c.664C>T (p.Pro222Ser) | |
3 | g.128486216G>C | CA354407005 | GATA2 | c.382C>G (p.Pro128Ala) c.664C>G (p.Pro222Ala) | |
3 | g.128486216G>T | CA354407009 | GATA2 | c.382C>A (p.Pro128Thr) c.664C>A (p.Pro222Thr) | |
3 | g.128486217G>A | CA435764000 | GATA2 | c.381C>T (p.His127=) c.663C>T (p.His221=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486217G>C | CA354407011 | GATA2 | c.381C>G (p.His127Gln) c.663C>G (p.His221Gln) | gnomAD v4 |
3 | g.128486217G= | CA1400719464 | GATA2 | c.381C= (p.His127=) c.663C= (p.His221=) | |
3 | g.128486217G>T | CA354407013 | GATA2 | c.381C>A (p.His127Gln) c.663C>A (p.His221Gln) | |
3 | g.128486218T>A | CA354407015 | GATA2 | c.380A>T (p.His127Leu) c.662A>T (p.His221Leu) | |
3 | g.128486218T>C | CA354407018 | GATA2 | c.380A>G (p.His127Arg) c.662A>G (p.His221Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486218T>G | CA354407021 | GATA2 | c.380A>C (p.His127Pro) c.662A>C (p.His221Pro) | |
3 | g.128486218T= | CA1400719465 | GATA2 | c.380A= (p.His127=) c.662A= (p.His221=) | |
3 | g.128486219G>A | CA354407024 | GATA2 | c.379C>T (p.His127Tyr) c.661C>T (p.His221Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486219G>C | CA354407027 | GATA2 | c.379C>G (p.His127Asp) c.661C>G (p.His221Asp) | |
3 | g.128486219G= | CA1400719466 | GATA2 | c.379C= (p.His127=) c.661C= (p.His221=) | |
3 | g.128486219G>T | CA354407029 | GATA2 | c.379C>A (p.His127Asn) c.661C>A (p.His221Asn) | ClinVar dbSNP |
3 | g.128486220C>A | CA435764005 | GATA2 | c.378G>T (p.Leu126=) c.660G>T (p.Leu220=) | |
3 | g.128486220C>G | CA435764006 | GATA2 | c.378G>C (p.Leu126=) c.660G>C (p.Leu220=) | |
3 | g.128486220C>T | CA435764008 | GATA2 | c.378G>A (p.Leu126=) c.660G>A (p.Leu220=) | gnomAD v4 |
3 | g.128486221A>C | CA354407035 | GATA2 | c.377T>G (p.Leu126Arg) c.659T>G (p.Leu220Arg) | ClinVar dbSNP |
3 | g.128486221A>G | CA354407037 | GATA2 | c.377T>C (p.Leu126Pro) c.659T>C (p.Leu220Pro) | |
3 | g.128486221A>T | CA354407032 | GATA2 | c.377T>A (p.Leu126Gln) c.659T>A (p.Leu220Gln) | ClinVar gnomAD v4 |
3 | g.128486222G>A | CA435764011 | GATA2 | c.376C>T (p.Leu126=) c.658C>T (p.Leu220=) | |
3 | g.128486222G>C | CA354407041 | GATA2 | c.376C>G (p.Leu126Val) c.658C>G (p.Leu220Val) | |
3 | g.128486222G>T | CA354407039 | GATA2 | c.376C>A (p.Leu126Met) c.658C>A (p.Leu220Met) | gnomAD v4 |
3 | g.128486223T>A | CA435764012 | GATA2 | c.375A>T (p.Pro125=) c.657A>T (p.Pro219=) | |
3 | g.128486223T>C | CA435764014 | GATA2 | c.375A>G (p.Pro125=) c.657A>G (p.Pro219=) | dbSNP |
3 | g.128486223T>G | CA2600037 | GATA2 | c.375A>C (p.Pro125=) c.657A>C (p.Pro219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486223T= | CA1400719467 | GATA2 | c.375A= (p.Pro125=) c.657A= (p.Pro219=) | |
3 | g.128486224G>A | CA354407046 | GATA2 | c.374C>T (p.Pro125Leu) c.656C>T (p.Pro219Leu) | |
3 | g.128486224G>C | CA354407049 | GATA2 | c.374C>G (p.Pro125Arg) c.656C>G (p.Pro219Arg) | |
3 | g.128486224G>T | CA354407050 | GATA2 | c.374C>A (p.Pro125Gln) c.656C>A (p.Pro219Gln) | |
3 | g.128486225G>A | CA354407053 | GATA2 | c.373C>T (p.Pro125Ser) c.655C>T (p.Pro219Ser) | |
3 | g.128486225G>C | CA354407056 | GATA2 | c.373C>G (p.Pro125Ala) c.655C>G (p.Pro219Ala) | |
3 | g.128486225G>T | CA354407058 | GATA2 | c.373C>A (p.Pro125Thr) c.655C>A (p.Pro219Thr) | gnomAD v4 COSMIC |
3 | g.128486225_128486226insA | CA2837995088 | GATA2 | c.372_373insT (p.Pro125SerfsTer?) c.654_655insT (p.Pro219SerfsTer?) | |
3 | g.128486226C>A | CA435764017 | GATA2 | c.372G>T (p.Thr124=) c.654G>T (p.Thr218=) | gnomAD v4 |
3 | g.128486226C= | CA1400719468 | GATA2 | c.372G= (p.Thr124=) c.654G= (p.Thr218=) | |
3 | g.128486226C>G | CA435764019 | GATA2 | c.372G>C (p.Thr124=) c.654G>C (p.Thr218=) | ClinVar dbSNP |
3 | g.128486226C>T | CA435764021 | GATA2 | c.372G>A (p.Thr124=) c.654G>A (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486227G>A | CA354407061 | GATA2 | c.371C>T (p.Thr124Met) c.653C>T (p.Thr218Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128486227G>C | CA354407064 | GATA2 | c.371C>G (p.Thr124Arg) c.653C>G (p.Thr218Arg) | gnomAD v4 |
3 | g.128486227G= | CA1400719469 | GATA2 | c.371C= (p.Thr124=) c.653C= (p.Thr218=) | |
3 | g.128486227G>T | CA159889 | GATA2 | c.371C>A (p.Thr124Lys) c.653C>A (p.Thr218Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486227dup | CA2838031885 | GATA2 | c.371dup (p.Pro125AlafsTer?) c.653dup (p.Pro219AlafsTer?) | |
3 | g.128486228T>A | CA354407068 | GATA2 | c.370A>T (p.Thr124Ser) c.652A>T (p.Thr218Ser) | |
3 | g.128486228T>C | CA354407069 | GATA2 | c.370A>G (p.Thr124Ala) c.652A>G (p.Thr218Ala) | gnomAD v4 |
3 | g.128486228T>G | CA354407072 | GATA2 | c.370A>C (p.Thr124Pro) c.652A>C (p.Thr218Pro) | |
3 | g.128486229C>A | CA354407074 | GATA2 | c.369G>T (p.Lys123Asn) c.651G>T (p.Lys217Asn) | COSMIC |
3 | g.128486229C>G | CA354407076 | GATA2 | c.369G>C (p.Lys123Asn) c.651G>C (p.Lys217Asn) | dbSNP |
3 | g.128486229C>T | CA435764025 | GATA2 | c.369G>A (p.Lys123=) c.651G>A (p.Lys217=) | ClinVar |
3 | g.128486230T>A | CA354407078 | GATA2 | c.368A>T (p.Lys123Met) c.650A>T (p.Lys217Met) | |
3 | g.128486230T>C | CA354407081 | GATA2 | c.368A>G (p.Lys123Arg) c.650A>G (p.Lys217Arg) | ClinVar dbSNP |
3 | g.128486230T>G | CA354407084 | GATA2 | c.368A>C (p.Lys123Thr) c.650A>C (p.Lys217Thr) | |
3 | g.128486231del | CA2667541075 | GATA2 | c.368del (p.Lys123ArgfsTer?) c.650del (p.Lys217ArgfsTer?) | gnomAD v4 |
3 | g.128486231T>A | CA354407086 | GATA2 | c.367A>T (p.Lys123Ter) c.649A>T (p.Lys217Ter) | |
3 | g.128486231T>C | CA354407089 | GATA2 | c.367A>G (p.Lys123Glu) c.649A>G (p.Lys217Glu) | |
3 | g.128486231T>G | CA354407091 | GATA2 | c.367A>C (p.Lys123Gln) c.649A>C (p.Lys217Gln) | |
3 | g.128486232G>A | CA435764028 | GATA2 | c.366C>T (p.Ser122=) c.648C>T (p.Ser216=) | |
3 | g.128486232G>C | CA435764030 | GATA2 | c.366C>G (p.Ser122=) c.648C>G (p.Ser216=) | |
3 | g.128486232G>T | CA435764032 | GATA2 | c.366C>A (p.Ser122=) c.648C>A (p.Ser216=) | gnomAD v4 |
3 | g.128486233G>A | CA354407094 | GATA2 | c.365C>T (p.Ser122Phe) c.647C>T (p.Ser216Phe) | |
3 | g.128486233G>C | CA354407096 | GATA2 | c.365C>G (p.Ser122Cys) c.647C>G (p.Ser216Cys) | ClinVar dbSNP |
3 | g.128486233G= | CA1400719470 | GATA2 | c.365C= (p.Ser122=) c.647C= (p.Ser216=) | |
3 | g.128486233G>T | CA354407098 | GATA2 | c.365C>A (p.Ser122Tyr) c.647C>A (p.Ser216Tyr) | |
3 | g.128486234A>C | CA354407101 | GATA2 | c.364T>G (p.Ser122Ala) c.646T>G (p.Ser216Ala) | |
3 | g.128486234A>G | CA354407103 | GATA2 | c.364T>C (p.Ser122Pro) c.646T>C (p.Ser216Pro) | |
3 | g.128486234A>T | CA354407105 | GATA2 | c.364T>A (p.Ser122Thr) c.646T>A (p.Ser216Thr) | |
3 | g.128486235G>A | CA435764033 | GATA2 | c.363C>T (p.Phe121=) c.645C>T (p.Phe215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.128486235G>C | CA354407107 | GATA2 | c.363C>G (p.Phe121Leu) c.645C>G (p.Phe215Leu) | gnomAD v4 |
3 | g.128486235G= | CA1400719471 | GATA2 | c.363C= (p.Phe121=) c.645C= (p.Phe215=) | |
3 | g.128486235G>T | CA354407110 | GATA2 | c.363C>A (p.Phe121Leu) c.645C>A (p.Phe215Leu) | |
3 | g.128486236A>C | CA354407113 | GATA2 | c.362T>G (p.Phe121Cys) c.644T>G (p.Phe215Cys) | |
3 | g.128486236A>G | CA354407115 | GATA2 | c.362T>C (p.Phe121Ser) c.644T>C (p.Phe215Ser) | |
3 | g.128486236A>T | CA354407117 | GATA2 | c.362T>A (p.Phe121Tyr) c.644T>A (p.Phe215Tyr) | |
3 | g.128486237A>C | CA354407121 | GATA2 | c.361T>G (p.Phe121Val) c.643T>G (p.Phe215Val) | |
3 | g.128486237A>G | CA354407122 | GATA2 | c.361T>C (p.Phe121Leu) c.643T>C (p.Phe215Leu) | |
3 | g.128486237A>T | CA354407128 | GATA2 | c.361T>A (p.Phe121Ile) c.643T>A (p.Phe215Ile) | |
3 | g.128486238G>A | CA435764035 | GATA2 | c.360C>T (p.Pro120=) c.642C>T (p.Pro214=) | |
3 | g.128486238G>C | CA435764037 | GATA2 | c.360C>G (p.Pro120=) c.642C>G (p.Pro214=) | |
3 | g.128486238G>T | CA435764039 | GATA2 | c.360C>A (p.Pro120=) c.642C>A (p.Pro214=) | ClinVar dbSNP |
3 | g.128486239G>A | CA354407135 | GATA2 | c.359C>T (p.Pro120Leu) c.641C>T (p.Pro214Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486239G>C | CA354407130 | GATA2 | c.359C>G (p.Pro120Arg) c.641C>G (p.Pro214Arg) | |
3 | g.128486239G= | CA1400719472 | GATA2 | c.359C= (p.Pro120=) c.641C= (p.Pro214=) | |
3 | g.128486239G>T | CA354407133 | GATA2 | c.359C>A (p.Pro120His) c.641C>A (p.Pro214His) | |
3 | g.128486240G>A | CA2600038 | GATA2 | c.358C>T (p.Pro120Ser) c.640C>T (p.Pro214Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486240G>C | CA354407140 | GATA2 | c.358C>G (p.Pro120Ala) c.640C>G (p.Pro214Ala) | gnomAD v4 |
3 | g.128486240G= | CA1400719473 | GATA2 | c.358C= (p.Pro120=) c.640C= (p.Pro214=) | |
3 | g.128486240G>T | CA354407142 | GATA2 | c.358C>A (p.Pro120Thr) c.640C>A (p.Pro214Thr) | |
3 | g.128486241G>A | CA435764041 | GATA2 | c.357C>T (p.Ser119=) c.639C>T (p.Ser213=) | gnomAD v4 |
3 | g.128486241G>C | CA354407144 | GATA2 | c.357C>G (p.Ser119Arg) c.639C>G (p.Ser213Arg) | |
3 | g.128486241G>T | CA354407147 | GATA2 | c.357C>A (p.Ser119Arg) c.639C>A (p.Ser213Arg) | |
3 | g.128486242C>A | CA354407149 | GATA2 | c.356G>T (p.Ser119Ile) c.638G>T (p.Ser213Ile) | |
3 | g.128486242C>G | CA354407152 | GATA2 | c.356G>C (p.Ser119Thr) c.638G>C (p.Ser213Thr) | |
3 | g.128486242C>T | CA354407151 | GATA2 | c.356G>A (p.Ser119Asn) c.638G>A (p.Ser213Asn) | |
3 | g.128486243T>A | CA354407155 | GATA2 | c.355A>T (p.Ser119Cys) c.637A>T (p.Ser213Cys) | |
3 | g.128486243T>C | CA354407156 | GATA2 | c.355A>G (p.Ser119Gly) c.637A>G (p.Ser213Gly) | gnomAD v4 |
3 | g.128486243T>G | CA354407158 | GATA2 | c.355A>C (p.Ser119Arg) c.637A>C (p.Ser213Arg) | |
3 | g.128486244C>A | CA435764043 | GATA2 | c.354G>T (p.Val118=) c.636G>T (p.Val212=) | |
3 | g.128486244C>G | CA435764045 | GATA2 | c.354G>C (p.Val118=) c.636G>C (p.Val212=) | |
3 | g.128486244C>T | CA435764046 | GATA2 | c.354G>A (p.Val118=) c.636G>A (p.Val212=) | gnomAD v4 |
3 | g.128486244dup | CA2586972846 | GATA2 | c.354dup (p.Ser119GlufsTer?) c.636dup (p.Ser213GlufsTer?) | |
3 | g.128486245del | CA1139768477 | GATA2 | c.353del (p.Val118GlyfsTer?) c.635del (p.Val212GlyfsTer?) | ClinVar dbSNP |
3 | g.128486245A= | CA1400719474 | GATA2 | c.353T= (p.Val118=) c.635T= (p.Val212=) | |
3 | g.128486245A>C | CA354407161 | GATA2 | c.353T>G (p.Val118Gly) c.635T>G (p.Val212Gly) | gnomAD v4 |
3 | g.128486245A>G | CA354407163 | GATA2 | c.353T>C (p.Val118Ala) c.635T>C (p.Val212Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486245A>T | CA354407165 | GATA2 | c.353T>A (p.Val118Glu) c.635T>A (p.Val212Glu) | |
3 | g.128486246C>A | CA354407169 | GATA2 | c.352G>T (p.Val118Leu) c.634G>T (p.Val212Leu) | |
3 | g.128486246C= | CA1400719475 | GATA2 | c.352G= (p.Val118=) c.634G= (p.Val212=) | |
3 | g.128486246C>G | CA354407171 | GATA2 | c.352G>C (p.Val118Leu) c.634G>C (p.Val212Leu) | gnomAD v4 |
3 | g.128486246C>T | CA354407174 | GATA2 | c.352G>A (p.Val118Met) c.634G>A (p.Val212Met) | dbSNP gnomAD v4 |
3 | g.128486247G>A | CA435764047 | GATA2 | c.351C>T (p.Thr117=) c.633C>T (p.Thr211=) | gnomAD v4 |
3 | g.128486247G>C | CA435764049 | GATA2 | c.351C>G (p.Thr117=) c.633C>G (p.Thr211=) | ClinVar dbSNP |
3 | g.128486247G>T | CA435764050 | GATA2 | c.351C>A (p.Thr117=) c.633C>A (p.Thr211=) | gnomAD v4 |
3 | g.128486249_128486254del | CA2573052072 | GATA2 | c.346_351del (p.Trp116_Thr117del) c.628_633del (p.Trp210_Thr211del) | ClinVar dbSNP |
3 | g.128486248G>A | CA354407176 | GATA2 | c.350C>T (p.Thr117Ile) c.632C>T (p.Thr211Ile) | |
3 | g.128486248G>C | CA354407179 | GATA2 | c.350C>G (p.Thr117Ser) c.632C>G (p.Thr211Ser) | |
3 | g.128486248G>T | CA354407181 | GATA2 | c.350C>A (p.Thr117Asn) c.632C>A (p.Thr211Asn) | |
3 | g.128486249T>A | CA354407189 | GATA2 | c.349A>T (p.Thr117Ser) c.631A>T (p.Thr211Ser) | |
3 | g.128486249T>C | CA354407187 | GATA2 | c.349A>G (p.Thr117Ala) c.631A>G (p.Thr211Ala) | |
3 | g.128486249T>G | CA354407184 | GATA2 | c.349A>C (p.Thr117Pro) c.631A>C (p.Thr211Pro) | |
3 | g.128486250C>A | CA354407194 | GATA2 | c.348G>T (p.Trp116Cys) c.630G>T (p.Trp210Cys) | |
3 | g.128486250C>G | CA354407191 | GATA2 | c.348G>C (p.Trp116Cys) c.630G>C (p.Trp210Cys) | |
3 | g.128486250C>T | CA354407195 | GATA2 | c.348G>A (p.Trp116Ter) c.630G>A (p.Trp210Ter) | |
3 | g.128486251C>A | CA354407199 | GATA2 | c.347G>T (p.Trp116Leu) c.629G>T (p.Trp210Leu) | |
3 | g.128486251C>G | CA354407203 | GATA2 | c.347G>C (p.Trp116Ser) c.629G>C (p.Trp210Ser) | |
3 | g.128486251C>T | CA354407201 | GATA2 | c.347G>A (p.Trp116Ter) c.629G>A (p.Trp210Ter) | |
3 | g.128486252A= | CA1400719476 | GATA2 | c.346T= (p.Trp116=) c.628T= (p.Trp210=) | |
3 | g.128486252A>C | CA354407206 | GATA2 | c.346T>G (p.Trp116Gly) c.628T>G (p.Trp210Gly) | |
3 | g.128486252A>G | CA354407209 | GATA2 | c.346T>C (p.Trp116Arg) c.628T>C (p.Trp210Arg) | |
3 | g.128486252A>T | CA354407211 | GATA2 | c.346T>A (p.Trp116Arg) c.628T>A (p.Trp210Arg) | |
3 | g.128486253G>A | CA435764053 | GATA2 | c.345C>T (p.Pro115=) c.627C>T (p.Pro209=) | |
3 | g.128486253G>C | CA435764054 | GATA2 | c.345C>G (p.Pro115=) c.627C>G (p.Pro209=) | |
3 | g.128486253G>T | CA435764055 | GATA2 | c.345C>A (p.Pro115=) c.627C>A (p.Pro209=) | gnomAD v4 |
3 | g.128486256dup | CA658796375 | GATA2 | c.345dup (p.Trp116LeufsTer?) c.627dup (p.Trp210LeufsTer?) | ClinVar dbSNP |
3 | g.128486254_128486259dup | CA2667541076 | GATA2 | c.340_345dup (p.Pro115_Trp116insAsnPro) c.622_627dup (p.Pro209_Trp210insAsnPro) | gnomAD v4 |
3 | g.128486254G>A | CA354407215 | GATA2 | c.344C>T (p.Pro115Leu) c.626C>T (p.Pro209Leu) | dbSNP gnomAD v2 |
3 | g.128486254G>C | CA354407216 | GATA2 | c.344C>G (p.Pro115Arg) c.626C>G (p.Pro209Arg) | |
3 | g.128486254G= | CA1400719477 | GATA2 | c.344C= (p.Pro115=) c.626C= (p.Pro209=) | |
3 | g.128486254G>T | CA354407218 | GATA2 | c.344C>A (p.Pro115His) c.626C>A (p.Pro209His) | |
3 | g.128486255G>A | CA354407223 | GATA2 | c.343C>T (p.Pro115Ser) c.625C>T (p.Pro209Ser) | |
3 | g.128486255G>C | CA354407225 | GATA2 | c.343C>G (p.Pro115Ala) c.625C>G (p.Pro209Ala) | |
3 | g.128486255G>T | CA354407227 | GATA2 | c.343C>A (p.Pro115Thr) c.625C>A (p.Pro209Thr) | gnomAD v4 |
3 | g.128486256G>A | CA435764057 | GATA2 | c.342C>T (p.Asn114=) c.624C>T (p.Asn208=) | ClinVar dbSNP |
3 | g.128486256G>C | CA354407230 | GATA2 | c.342C>G (p.Asn114Lys) c.624C>G (p.Asn208Lys) | |
3 | g.128486256G= | CA1400719478 | GATA2 | c.342C= (p.Asn114=) c.624C= (p.Asn208=) | |
3 | g.128486256G>T | CA354407231 | GATA2 | c.342C>A (p.Asn114Lys) c.624C>A (p.Asn208Lys) | ClinVar |
3 | g.128486257T>A | CA354407241 | GATA2 | c.341A>T (p.Asn114Ile) c.623A>T (p.Asn208Ile) | |
3 | g.128486257T>C | CA354407238 | GATA2 | c.341A>G (p.Asn114Ser) c.623A>G (p.Asn208Ser) | ClinVar dbSNP |
3 | g.128486257T>G | CA354407235 | GATA2 | c.341A>C (p.Asn114Thr) c.623A>C (p.Asn208Thr) | |
3 | g.128486257T= | CA1400719479 | GATA2 | c.341A= (p.Asn114=) c.623A= (p.Asn208=) | |
3 | g.128486258T>A | CA354407244 | GATA2 | c.340A>T (p.Asn114Tyr) c.622A>T (p.Asn208Tyr) | |
3 | g.128486258T>C | CA354407245 | GATA2 | c.340A>G (p.Asn114Asp) c.622A>G (p.Asn208Asp) | ClinVar gnomAD v4 |
3 | g.128486258T>G | CA354407247 | GATA2 | c.340A>C (p.Asn114His) c.622A>C (p.Asn208His) | |
3 | g.128486258_128486261delinsTGTG | CA1400719480 | GATA2 | c.337_340delinsCACA (p.His113=) c.619_622delinsCACA (p.His207=) | |
3 | g.128486259G>A | CA435764059 | GATA2 | c.339C>T (p.His113=) c.621C>T (p.His207=) | ClinVar dbSNP gnomAD v2 |
3 | g.128486259G>C | CA354407249 | GATA2 | c.339C>G (p.His113Gln) c.621C>G (p.His207Gln) | |
3 | g.128486259G= | CA1400719481 | GATA2 | c.339C= (p.His113=) c.621C= (p.His207=) | |
3 | g.128486259G>T | CA354407251 | GATA2 | c.339C>A (p.His113Gln) c.621C>A (p.His207Gln) | |
3 | g.128486266_128486268dup | CA2580616525 | GATA2 | c.337_339dup (p.His113_Asn114insHis) c.619_621dup (p.His207_Asn208insHis) | ClinVar dbSNP |
3 | g.128486266_128486268del | CA2600039 | GATA2 | c.337_339del (p.His113del) c.619_621del (p.His207del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486260T>A | CA354407255 | GATA2 | c.338A>T (p.His113Leu) c.620A>T (p.His207Leu) | |
3 | g.128486260T>C | CA354407257 | GATA2 | c.338A>G (p.His113Arg) c.620A>G (p.His207Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486260T>G | CA354407259 | GATA2 | c.338A>C (p.His113Pro) c.620A>C (p.His207Pro) | |
3 | g.128486260T= | CA1400719482 | GATA2 | c.338A= (p.His113=) c.620A= (p.His207=) | |
3 | g.128486261G>A | CA354407263 | GATA2 | c.337C>T (p.His113Tyr) c.619C>T (p.His207Tyr) | |
3 | g.128486261G>C | CA354407265 | GATA2 | c.337C>G (p.His113Asp) c.619C>G (p.His207Asp) | |
3 | g.128486261G>T | CA354407266 | GATA2 | c.337C>A (p.His113Asn) c.619C>A (p.His207Asn) | |
3 | g.128486262G>A | CA435764063 | GATA2 | c.336C>T (p.His112=) c.618C>T (p.His206=) | |
3 | g.128486262G>C | CA354407269 | GATA2 | c.336C>G (p.His112Gln) c.618C>G (p.His206Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486262G= | CA1400719483 | GATA2 | c.336C= (p.His112=) c.618C= (p.His206=) | |
3 | g.128486262G>T | CA354407268 | GATA2 | c.336C>A (p.His112Gln) c.618C>A (p.His206Gln) | dbSNP |
3 | g.128486263T>A | CA354407272 | GATA2 | c.335A>T (p.His112Leu) c.617A>T (p.His206Leu) | |
3 | g.128486263T>C | CA354407275 | GATA2 | c.335A>G (p.His112Arg) c.617A>G (p.His206Arg) | ClinVar dbSNP |
3 | g.128486263T>G | CA354407278 | GATA2 | c.335A>C (p.His112Pro) c.617A>C (p.His206Pro) | |
3 | g.128486264G>A | CA354407279 | GATA2 | c.334C>T (p.His112Tyr) c.616C>T (p.His206Tyr) | |
3 | g.128486264G>C | CA354407282 | GATA2 | c.334C>G (p.His112Asp) c.616C>G (p.His206Asp) | ClinVar gnomAD v4 |
3 | g.128486264G>T | CA354407283 | GATA2 | c.334C>A (p.His112Asn) c.616C>A (p.His206Asn) | gnomAD v4 |
3 | g.128486265G>A | CA2600040 | GATA2 | c.333C>T (p.His111=) c.615C>T (p.His205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486265G>C | CA354407289 | GATA2 | c.333C>G (p.His111Gln) c.615C>G (p.His205Gln) | |
3 | g.128486265G= | CA1400719484 | GATA2 | c.333C= (p.His111=) c.615C= (p.His205=) | |
3 | g.128486265G>T | CA354407291 | GATA2 | c.333C>A (p.His111Gln) c.615C>A (p.His205Gln) | gnomAD v4 |
3 | g.128486266T>A | CA354407294 | GATA2 | c.332A>T (p.His111Leu) c.614A>T (p.His205Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.128486266T>C | CA354407296 | GATA2 | c.332A>G (p.His111Arg) c.614A>G (p.His205Arg) | |
3 | g.128486266T>G | CA354407298 | GATA2 | c.332A>C (p.His111Pro) c.614A>C (p.His205Pro) | dbSNP |
3 | g.128486266T= | CA1400719485 | GATA2 | c.332A= (p.His111=) c.614A= (p.His205=) | |
3 | g.128486267G>A | CA354407301 | GATA2 | c.331C>T (p.His111Tyr) c.613C>T (p.His205Tyr) | gnomAD v4 |
3 | g.128486267G>C | CA354407303 | GATA2 | c.331C>G (p.His111Asp) c.613C>G (p.His205Asp) | |
3 | g.128486267G>T | CA354407300 | GATA2 | c.331C>A (p.His111Asn) c.613C>A (p.His205Asn) | COSMIC |
3 | g.128486268G>A | CA435764072 | GATA2 | c.330C>T (p.Ala110=) c.612C>T (p.Ala204=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486268G>C | CA435764073 | GATA2 | c.330C>G (p.Ala110=) c.612C>G (p.Ala204=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486268G= | CA1400719486 | GATA2 | c.330C= (p.Ala110=) c.612C= (p.Ala204=) | |
3 | g.128486268G>T | CA435764075 | GATA2 | c.330C>A (p.Ala110=) c.612C>A (p.Ala204=) | gnomAD v4 |
3 | g.128486268_128486270del | CA2838031887 | GATA2 | c.328_330del (p.Ala110del) c.610_612del (p.Ala204del) | |
3 | g.128486269G>A | CA354407306 | GATA2 | c.329C>T (p.Ala110Val) c.611C>T (p.Ala204Val) | ClinVar gnomAD v4 |
3 | g.128486269G>C | CA354407308 | GATA2 | c.329C>G (p.Ala110Gly) c.611C>G (p.Ala204Gly) | dbSNP |
3 | g.128486269G= | CA1400719487 | GATA2 | c.329C= (p.Ala110=) c.611C= (p.Ala204=) | |
3 | g.128486269G>T | CA354407309 | GATA2 | c.329C>A (p.Ala110Asp) c.611C>A (p.Ala204Asp) | gnomAD v4 |
3 | g.128486270C>A | CA354407312 | GATA2 | c.328G>T (p.Ala110Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
3 | g.128486270C= | CA1400719488 | GATA2 | c.328G= (p.Ala110=) c.610G= (p.Ala204=) | |
3 | g.128486270C>G | CA83372059 | GATA2 | c.328G>C (p.Ala110Pro) c.610G>C (p.Ala204Pro) | dbSNP |
3 | g.128486270C>T | CA354407317 | GATA2 | c.328G>A (p.Ala110Thr) c.610G>A (p.Ala204Thr) | |
3 | g.128486271C>A | CA435764079 | GATA2 | c.327G>T (p.Ala109=) c.609G>T (p.Ala203=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486271C= | CA1400719489 | GATA2 | c.327G= (p.Ala109=) c.609G= (p.Ala203=) | |
3 | g.128486271C>G | CA435764080 | GATA2 | c.327G>C (p.Ala109=) c.609G>C (p.Ala203=) | |
3 | g.128486271C>T | CA83372065 | GATA2 | c.327G>A (p.Ala109=) c.609G>A (p.Ala203=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486272G>A | CA354407321 | GATA2 | c.326C>T (p.Ala109Val) c.608C>T (p.Ala203Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.128486272G>C | CA354407323 | GATA2 | c.326C>G (p.Ala109Gly) c.608C>G (p.Ala203Gly) | |
3 | g.128486272G= | CA1400719490 | GATA2 | c.326C= (p.Ala109=) c.608C= (p.Ala203=) | |
3 | g.128486272G>T | CA354407325 | GATA2 | c.326C>A (p.Ala109Glu) c.608C>A (p.Ala203Glu) | ClinVar |
3 | g.128486273C>A | CA354407327 | GATA2 | c.325G>T (p.Ala109Ser) c.607G>T (p.Ala203Ser) | |
3 | g.128486273C>G | CA354407329 | GATA2 | c.325G>C (p.Ala109Pro) c.607G>C (p.Ala203Pro) | |
3 | g.128486273C>T | CA354407336 | GATA2 | c.325G>A (p.Ala109Thr) c.607G>A (p.Ala203Thr) | |
3 | g.128486274A>C | CA435764082 | GATA2 | c.324T>G (p.Ala108=) c.606T>G (p.Ala202=) | |
3 | g.128486274A>G | CA435764083 | GATA2 | c.324T>C (p.Ala108=) c.606T>C (p.Ala202=) | gnomAD v4 |
3 | g.128486274A>T | CA435764084 | GATA2 | c.324T>A (p.Ala108=) c.606T>A (p.Ala202=) | |
3 | g.128486275G>A | CA354407345 | GATA2 | c.323C>T (p.Ala108Val) c.605C>T (p.Ala202Val) | ClinVar gnomAD v4 |
3 | g.128486275G>C | CA354407342 | GATA2 | c.323C>G (p.Ala108Gly) c.605C>G (p.Ala202Gly) | |
3 | g.128486275G>T | CA354407339 | GATA2 | c.323C>A (p.Ala108Asp) c.605C>A (p.Ala202Asp) | gnomAD v4 |
3 | g.128486276C>A | CA354407348 | GATA2 | c.322G>T (p.Ala108Ser) c.604G>T (p.Ala202Ser) | ClinVar gnomAD v4 |
3 | g.128486276C= | CA1400719491 | GATA2 | c.322G= (p.Ala108=) c.604G= (p.Ala202=) | |
3 | g.128486276C>G | CA354407350 | GATA2 | c.322G>C (p.Ala108Pro) c.604G>C (p.Ala202Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.128486276C>T | CA354407349 | GATA2 | c.322G>A (p.Ala108Thr) c.604G>A (p.Ala202Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486277G>A | CA2600041 | GATA2 | c.321C>T (p.Ala107=) c.603C>T (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486277G>C | CA435510313 | GATA2 | c.321C>G (p.Ala107=) c.603C>G (p.Ala201=) | dbSNP |
3 | g.128486277G= | CA1400719492 | GATA2 | c.321C= (p.Ala107=) c.603C= (p.Ala201=) | |
3 | g.128486277G>T | CA435510314 | GATA2 | c.321C>A (p.Ala107=) c.603C>A (p.Ala201=) | |
3 | g.128486278G>A | CA354407357 | GATA2 | c.320C>T (p.Ala107Val) c.602C>T (p.Ala201Val) | dbSNP gnomAD v4 |
3 | g.128486278G>C | CA354407358 | GATA2 | c.320C>G (p.Ala107Gly) c.602C>G (p.Ala201Gly) | |
3 | g.128486278G>T | CA354407362 | GATA2 | c.320C>A (p.Ala107Asp) c.602C>A (p.Ala201Asp) | |
3 | g.128486278_128486279delinsTT | CA2573136507 | GATA2 | c.319_320delinsAA (p.Ala107Asn) c.601_602delinsAA (p.Ala201Asn) | ClinVar dbSNP |
3 | g.128486279_128486280insCGC | CA2838031911 | GATA2 | c.320_321insGGC (p.Ala107_Ala108insAla) c.602_603insGGC (p.Ala201_Ala202insAla) | |
3 | g.128486279C>A | CA354407365 | GATA2 | c.319G>T (p.Ala107Ser) c.601G>T (p.Ala201Ser) | |
3 | g.128486279C>G | CA354407367 | GATA2 | c.319G>C (p.Ala107Pro) c.601G>C (p.Ala201Pro) | |
3 | g.128486279C>T | CA354407370 | GATA2 | c.319G>A (p.Ala107Thr) c.601G>A (p.Ala201Thr) | ClinVar dbSNP |
3 | g.128486280A>C | CA435510317 | GATA2 | c.318T>G (p.Ser106=) c.600T>G (p.Ser200=) | |
3 | g.128486280A>G | CA435510318 | GATA2 | c.318T>C (p.Ser106=) c.600T>C (p.Ser200=) | |
3 | g.128486280A>T | CA435510319 | GATA2 | c.318T>A (p.Ser106=) c.600T>A (p.Ser200=) | COSMIC |
3 | g.128486280dup | CA1139532782 | GATA2 | c.318dup (p.Ala107CysfsTer?) c.600dup (p.Ala201CysfsTer?) | ClinVar dbSNP |
3 | g.128486284_128486285del | CA1139532781 | GATA2 | c.317_318del (p.Ser106CysfsTer?) c.599_600del (p.Ser200CysfsTer?) | ClinVar dbSNP |
3 | g.128486281G>A | CA354407375 | GATA2 | c.317C>T (p.Ser106Phe) c.599C>T (p.Ser200Phe) | gnomAD v4 |
3 | g.128486281G>C | CA354407378 | GATA2 | c.317C>G (p.Ser106Cys) c.599C>G (p.Ser200Cys) | |
3 | g.128486281G>T | CA354407380 | GATA2 | c.317C>A (p.Ser106Tyr) c.599C>A (p.Ser200Tyr) | |
3 | g.128486282A>C | CA354407384 | GATA2 | c.316T>G (p.Ser106Ala) c.598T>G (p.Ser200Ala) | |
3 | g.128486282A>G | CA354407386 | GATA2 | c.316T>C (p.Ser106Pro) c.598T>C (p.Ser200Pro) | |
3 | g.128486282A>T | CA354407389 | GATA2 | c.316T>A (p.Ser106Thr) c.598T>A (p.Ser200Thr) | |
3 | g.128486283G>A | CA2600042 | GATA2 | c.315C>T (p.Leu105=) c.597C>T (p.Leu199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486283G>C | CA83372074 | GATA2 | c.315C>G (p.Leu105=) c.597C>G (p.Leu199=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486283G= | CA1400719493 | GATA2 | c.315C= (p.Leu105=) c.597C= (p.Leu199=) | |
3 | g.128486283G>T | CA435510321 | GATA2 | c.315C>A (p.Leu105=) c.597C>A (p.Leu199=) | gnomAD v4 |
3 | g.128486284A= | CA1400719494 | GATA2 | c.314T= (p.Leu105=) c.596T= (p.Leu199=) | |
3 | g.128486284A>C | CA354407395 | GATA2 | c.314T>G (p.Leu105Arg) c.596T>G (p.Leu199Arg) | |
3 | g.128486284A>G | CA354407398 | GATA2 | c.314T>C (p.Leu105Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
3 | g.128486284A>T | CA354407401 | GATA2 | c.314T>A (p.Leu105His) c.596T>A (p.Leu199His) | |
3 | g.128486285G>A | CA354407403 | GATA2 | c.313C>T (p.Leu105Phe) c.595C>T (p.Leu199Phe) | ClinVar dbSNP |
3 | g.128486285G>C | CA354407406 | GATA2 | c.313C>G (p.Leu105Val) c.595C>G (p.Leu199Val) | ClinVar |
3 | g.128486285G>T | CA354407409 | GATA2 | c.313C>A (p.Leu105Ile) c.595C>A (p.Leu199Ile) | gnomAD v4 |
3 | g.128486287dup | CA658820606 | GATA2 | c.313dup (p.Leu105ProfsTer?) c.595dup (p.Leu199ProfsTer?) | |
3 | g.128486286_128486287dup | CA658820607 | GATA2 | c.312_313dup (p.Leu105ProfsTer15) c.594_595dup (p.Leu199ProfsTer15) | ClinVar dbSNP |
3 | g.128486286G>A | CA435510325 | GATA2 | c.312C>T (p.Ala104=) c.594C>T (p.Ala198=) | gnomAD v4 |
3 | g.128486286G>C | CA435510326 | GATA2 | c.312C>G (p.Ala104=) c.594C>G (p.Ala198=) | gnomAD v4 |
3 | g.128486286G= | CA1400719495 | GATA2 | c.312C= (p.Ala104=) c.594C= (p.Ala198=) | |
3 | g.128486286G>T | CA435510327 | GATA2 | c.312C>A (p.Ala104=) c.594C>A (p.Ala198=) | dbSNP |
3 | g.128486287G>A | CA2600043 | GATA2 | c.311C>T (p.Ala104Val) c.593C>T (p.Ala198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486287G>C | CA354407414 | GATA2 | c.311C>G (p.Ala104Gly) c.593C>G (p.Ala198Gly) | |
3 | g.128486287G= | CA1400719496 | GATA2 | c.311C= (p.Ala104=) c.593C= (p.Ala198=) | |
3 | g.128486287G>T | CA354407415 | GATA2 | c.311C>A (p.Ala104Asp) c.593C>A (p.Ala198Asp) | gnomAD v4 |
3 | g.128486289_128486296del | CA1611067989 | GATA2 | c.304_311del (p.Lys102ProfsTer?) c.586_593del (p.Lys196ProfsTer?) | |
3 | g.128486288C>A | CA16611144 | GATA2 | c.310G>T (p.Ala104Ser) c.592G>T (p.Ala198Ser) | ClinVar dbSNP |
3 | g.128486288C= | CA1400719497 | GATA2 | c.310G= (p.Ala104=) c.592G= (p.Ala198=) | |
3 | g.128486288C>G | CA354407420 | GATA2 | c.310G>C (p.Ala104Pro) c.592G>C (p.Ala198Pro) | |
3 | g.128486288C>T | CA354407422 | GATA2 | c.310G>A (p.Ala104Thr) c.592G>A (p.Ala198Thr) | gnomAD v4 |
3 | g.128486289T>A | CA435510331 | GATA2 | c.309A>T (p.Ala103=) c.591A>T (p.Ala197=) | ClinVar dbSNP |
3 | g.128486289T>C | CA435510332 | GATA2 | c.309A>G (p.Ala103=) c.591A>G (p.Ala197=) | gnomAD v4 |
3 | g.128486289T>G | CA435510333 | GATA2 | c.309A>C (p.Ala103=) c.591A>C (p.Ala197=) | |
3 | g.128486292_128486296del | CA2740090997 | GATA2 | c.305_309del (p.Lys102SerfsTer?) c.587_591del (p.Lys196SerfsTer?) | ClinVar |
3 | g.128486290G>A | CA354407429 | GATA2 | c.308C>T (p.Ala103Val) c.590C>T (p.Ala197Val) | ClinVar dbSNP gnomAD v4 |
3 | g.128486290G>C | CA354407427 | GATA2 | c.308C>G (p.Ala103Gly) c.590C>G (p.Ala197Gly) | gnomAD v4 |
3 | g.128486290G= | CA1400719498 | GATA2 | c.308C= (p.Ala103=) c.590C= (p.Ala197=) | |
3 | g.128486290G>T | CA354407425 | GATA2 | c.308C>A (p.Ala103Glu) c.590C>A (p.Ala197Glu) | gnomAD v4 |
3 | g.128486291C>A | CA354407431 | GATA2 | c.307G>T (p.Ala103Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
3 | g.128486291C= | CA1400719499 | GATA2 | c.307G= (p.Ala103=) c.589G= (p.Ala197=) | |
3 | g.128486291C>G | CA354407434 | GATA2 | c.307G>C (p.Ala103Pro) c.589G>C (p.Ala197Pro) | |
3 | g.128486291C>T | CA354407436 | GATA2 | c.307G>A (p.Ala103Thr) c.589G>A (p.Ala197Thr) | ClinVar dbSNP gnomAD v2 |
3 | g.128486291_128486324del | CA2838031892 | GATA2 | c.274_307del (p.Ser92GlnfsTer16) c.556_589del (p.Ser186GlnfsTer16) | |
3 | g.128486292T>A | CA354407439 | GATA2 | c.306A>T (p.Lys102Asn) c.588A>T (p.Lys196Asn) | |
3 | g.128486292T>C | CA435510338 | GATA2 | c.306A>G (p.Lys102=) c.588A>G (p.Lys196=) | gnomAD v4 |
3 | g.128486292T>G | CA354407441 | GATA2 | c.306A>C (p.Lys102Asn) c.588A>C (p.Lys196Asn) | |
3 | g.128486294del | CA1139532780 | GATA2 | c.306del (p.Ala103GlnfsTer16) c.588del (p.Ala197GlnfsTer16) | ClinVar dbSNP |
3 | g.128486293T>A | CA354407448 | GATA2 | c.305A>T (p.Lys102Ile) c.587A>T (p.Lys196Ile) | gnomAD v4 |
3 | g.128486293T>C | CA354407446 | GATA2 | c.305A>G (p.Lys102Arg) c.587A>G (p.Lys196Arg) | |
3 | g.128486293T>G | CA354407444 | GATA2 | c.305A>C (p.Lys102Thr) c.587A>C (p.Lys196Thr) | |
3 | g.128486294T>A | CA354407452 | GATA2 | c.304A>T (p.Lys102Ter) c.586A>T (p.Lys196Ter) | |
3 | g.128486294T>C | CA354407455 | GATA2 | c.304A>G (p.Lys102Glu) c.586A>G (p.Lys196Glu) | ClinVar dbSNP |
3 | g.128486294T>G | CA354407456 | GATA2 | c.304A>C (p.Lys102Gln) c.586A>C (p.Lys196Gln) | |
3 | g.128486295del | CA1139532779 | GATA2 | c.303del (p.Ala103GlnfsTer16) c.585del (p.Ala197GlnfsTer16) | ClinVar dbSNP |
3 | g.128486295G>A | CA435510340 | GATA2 | c.303C>T (p.Gly101=) c.585C>T (p.Gly195=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486295G>C | CA435510341 | GATA2 | c.303C>G (p.Gly101=) c.585C>G (p.Gly195=) | gnomAD v4 |
3 | g.128486295G= | CA1400719500 | GATA2 | c.303C= (p.Gly101=) c.585C= (p.Gly195=) | |
3 | g.128486295G>T | CA435510342 | GATA2 | c.303C>A (p.Gly101=) c.585C>A (p.Gly195=) | gnomAD v4 |
3 | g.128486296C>A | CA354407460 | GATA2 | c.302G>T (p.Gly101Val) c.584G>T (p.Gly195Val) | gnomAD v4 |
3 | g.128486296C= | CA1400719501 | GATA2 | c.302G= (p.Gly101=) c.584G= (p.Gly195=) | |
3 | g.128486296C>G | CA354407463 | GATA2 | c.302G>C (p.Gly101Ala) c.584G>C (p.Gly195Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486296C>T | CA354407475 | GATA2 | c.302G>A (p.Gly101Asp) c.584G>A (p.Gly195Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128486300dup | CA2832534310 | GATA2 | c.302dup (p.Lys102GlnfsTer?) c.584dup (p.Lys196GlnfsTer?) | |
3 | g.128486300del | CA1139532778 | GATA2 | c.302del (p.Gly101AlafsTer18) c.584del (p.Gly195AlafsTer18) | ClinVar dbSNP |
3 | g.128486297C>A | CA354407479 | GATA2 | c.301G>T (p.Gly101Cys) c.583G>T (p.Gly195Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.128486297C= | CA1400719502 | GATA2 | c.301G= (p.Gly101=) c.583G= (p.Gly195=) | |
3 | g.128486297C>G | CA354407483 | GATA2 | c.301G>C (p.Gly101Arg) c.583G>C (p.Gly195Arg) | |
3 | g.128486297C>T | CA354407482 | GATA2 | c.301G>A (p.Gly101Ser) c.583G>A (p.Gly195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486298C>A | CA435510344 | GATA2 | c.300G>T (p.Gly100=) c.582G>T (p.Gly194=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486298C= | CA1400719504 | GATA2 | c.300G= (p.Gly100=) c.582G= (p.Gly194=) | |
3 | g.128486298C>G | CA435510346 | GATA2 | c.300G>C (p.Gly100=) c.582G>C (p.Gly194=) | |
3 | g.128486298C>T | CA435510347 | GATA2 | c.300G>A (p.Gly100=) c.582G>A (p.Gly194=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486298_128486299delinsAA | CA16611182 | GATA2 | c.299_300delinsTT (p.Gly100Val) c.581_582delinsTT (p.Gly194Val) | ClinVar dbSNP |
3 | g.128486298_128486299delinsCC | CA1400719503 | GATA2 | c.299_300delinsGG (p.Gly100=) c.581_582delinsGG (p.Gly194=) | |
3 | g.128486301_128486302insAGGCCCG | CA645523652 | GATA2 | c.300_301insCCTCGGG (p.Gly101ProfsTer?) c.582_583insCCTCGGG (p.Gly195ProfsTer?) | COSMIC |
3 | g.128486299C>A | CA354407486 | GATA2 | c.299G>T (p.Gly100Val) c.581G>T (p.Gly194Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486299C= | CA1400719505 | GATA2 | c.299G= (p.Gly100=) c.581G= (p.Gly194=) | |
3 | g.128486299C>G | CA354407489 | GATA2 | c.299G>C (p.Gly100Ala) c.581G>C (p.Gly194Ala) | gnomAD v4 |
3 | g.128486299C>T | CA354407491 | GATA2 | c.299G>A (p.Gly100Glu) c.581G>A (p.Gly194Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.128486300C>A | CA354407505 | GATA2 | c.298G>T (p.Gly100Trp) c.580G>T (p.Gly194Trp) | |
3 | g.128486300C= | CA1400719506 | GATA2 | c.298G= (p.Gly100=) c.580G= (p.Gly194=) | |
3 | g.128486300C>G | CA354407506 | GATA2 | c.298G>C (p.Gly100Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486300C>T | CA354407508 | GATA2 | c.298G>A (p.Gly100Arg) c.580G>A (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486301G>A | CA435510348 | GATA2 | c.297C>T (p.Asp99=) c.579C>T (p.Asp193=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486301G>C | CA354407510 | GATA2 | c.297C>G (p.Asp99Glu) c.579C>G (p.Asp193Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486301G= | CA1400719507 | GATA2 | c.297C= (p.Asp99=) c.579C= (p.Asp193=) | |
3 | g.128486301G>T | CA354407512 | GATA2 | c.297C>A (p.Asp99Glu) c.579C>A (p.Asp193Glu) | ClinVar gnomAD v4 |
3 | g.128486302T>A | CA354407514 | GATA2 | c.296A>T (p.Asp99Val) c.578A>T (p.Asp193Val) | gnomAD v4 |
3 | g.128486302T>C | CA2600044 | GATA2 | c.296A>G (p.Asp99Gly) c.578A>G (p.Asp193Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486302T>G | CA354407517 | GATA2 | c.296A>C (p.Asp99Ala) c.578A>C (p.Asp193Ala) | |
3 | g.128486302T= | CA1400719508 | GATA2 | c.296A= (p.Asp99=) c.578A= (p.Asp193=) | |
3 | g.128486303C>A | CA2600045 | GATA2 | c.295G>T (p.Asp99Tyr) c.577G>T (p.Asp193Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486303C= | CA1400719509 | GATA2 | c.295G= (p.Asp99=) c.577G= (p.Asp193=) | |
3 | g.128486303C>G | CA354407522 | GATA2 | c.295G>C (p.Asp99His) c.577G>C (p.Asp193His) | |
3 | g.128486303C>T | CA354407518 | GATA2 | c.295G>A (p.Asp99Asn) c.577G>A (p.Asp193Asn) | |
3 | g.128486304C>A | CA435510349 | GATA2 | c.294G>T (p.Leu98=) c.576G>T (p.Leu192=) | gnomAD v4 |
3 | g.128486304C>G | CA435510350 | GATA2 | c.294G>C (p.Leu98=) c.576G>C (p.Leu192=) | |
3 | g.128486304C>T | CA435510351 | GATA2 | c.294G>A (p.Leu98=) c.576G>A (p.Leu192=) | gnomAD v4 |
3 | g.128486305A>C | CA354407525 | GATA2 | c.293T>G (p.Leu98Arg) c.575T>G (p.Leu192Arg) | |
3 | g.128486305A>G | CA354407529 | GATA2 | c.293T>C (p.Leu98Pro) c.575T>C (p.Leu192Pro) | |
3 | g.128486305A>T | CA354407526 | GATA2 | c.293T>A (p.Leu98Gln) c.575T>A (p.Leu192Gln) | |
3 | g.128486306G>A | CA435510352 | GATA2 | c.292C>T (p.Leu98=) c.574C>T (p.Leu192=) | gnomAD v4 |
3 | g.128486306G>C | CA354407531 | GATA2 | c.292C>G (p.Leu98Val) c.574C>G (p.Leu192Val) | |
3 | g.128486306G>T | CA354407534 | GATA2 | c.292C>A (p.Leu98Met) c.574C>A (p.Leu192Met) | gnomAD v4 |
3 | g.128486307C>A | CA354407535 | GATA2 | c.291G>T (p.Trp97Cys) c.573G>T (p.Trp191Cys) | gnomAD v4 |
3 | g.128486307C>G | CA354407539 | GATA2 | c.291G>C (p.Trp97Cys) c.573G>C (p.Trp191Cys) | |
3 | g.128486307C>T | CA354407537 | GATA2 | c.291G>A (p.Trp97Ter) c.573G>A (p.Trp191Ter) |