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.128485969_128486044delinsCCGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAG | CA1400719311 | GATA2 | c.554_629delinsCTAGCACCACGGGGGCTGCGTCTCCAGCCTCATCTTCCGCGGGGGGTAGTGCAGCCCGAGGAGAGGACAAGGACGG (p.Pro185=) c.836_911delinsCTAGCACCACGGGGGCTGCGTCTCCAGCCTCATCTTCCGCGGGGGGTAGTGCAGCCCGAGGAGAGGACAAGGACGG (p.Pro279=) | |
3 | g.128485970_128486044delinsAGCCCCCGTGGTGCTA | CA915941568 | GATA2 | c.554_628delinsTAGCACCACGGGGGCT (p.Pro185LeufsTer?) c.836_910delinsTAGCACCACGGGGGCT (p.Pro279LeufsTer?) | ClinVar dbSNP |
3 | g.128485997T>A | CA354406441 | GATA2 | c.601A>T (p.Ser201Cys) c.883A>T (p.Ser295Cys) | |
3 | g.128485997T>C | CA354406442 | GATA2 | c.601A>G (p.Ser201Gly) c.883A>G (p.Ser295Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485997T>G | CA354406443 | GATA2 | c.601A>C (p.Ser201Arg) c.883A>C (p.Ser295Arg) | |
3 | g.128485997T= | CA1400719324 | GATA2 | c.601A= (p.Ser201=) c.883A= (p.Ser295=) | |
3 | g.128485998A= | CA1400719326 | GATA2 | c.600T= (p.Gly200=) c.882T= (p.Gly294=) | |
3 | g.128485998A>C | CA435764117 | GATA2 | c.600T>G (p.Gly200=) c.882T>G (p.Gly294=) | ClinVar dbSNP |
3 | g.128485998A>G | CA435764118 | GATA2 | c.600T>C (p.Gly200=) c.882T>C (p.Gly294=) | ClinVar COSMIC |
3 | g.128485998A>T | CA435764119 | GATA2 | c.600T>A (p.Gly200=) c.882T>A (p.Gly294=) | |
3 | g.128485998_128485999delinsAC | CA1400719325 | GATA2 | c.599_600delinsGT (p.Gly200=) c.881_882delinsGT (p.Gly294=) | |
3 | g.128485999C>A | CA354406444 | GATA2 | c.599G>T (p.Gly200Val) c.881G>T (p.Gly294Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485999C= | CA1400719327 | GATA2 | c.599G= (p.Gly200=) c.881G= (p.Gly294=) | |
3 | g.128485999C>G | CA2599990 | GATA2 | c.599G>C (p.Gly200Ala) c.881G>C (p.Gly294Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485999C>T | CA2599991 | GATA2 | c.599G>A (p.Gly200Asp) c.881G>A (p.Gly294Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.128486004dup | CA358452 | GATA2 | c.599dup (p.Ser201Ter) c.881dup (p.Ser295Ter) | ClinVar dbSNP ExAC |
3 | g.128486004del | CA435764121 | GATA2 | c.599del (p.Gly200ValfsTer18) c.881del (p.Gly294ValfsTer18) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.128486000C>A | CA354406445 | GATA2 | c.598G>T (p.Gly200Cys) c.880G>T (p.Gly294Cys) | |
3 | g.128486000C= | CA1400719328 | GATA2 | c.598G= (p.Gly200=) c.880G= (p.Gly294=) | |
3 | g.128486000C>G | CA354406446 | GATA2 | c.598G>C (p.Gly200Arg) c.880G>C (p.Gly294Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486000C>T | CA354406447 | GATA2 | c.598G>A (p.Gly200Ser) c.880G>A (p.Gly294Ser) | |
3 | g.128486001C>A | CA435764122 | GATA2 | c.597G>T (p.Gly199=) c.879G>T (p.Gly293=) | ClinVar gnomAD v4 |
3 | g.128486001C= | CA1400719329 | GATA2 | c.597G= (p.Gly199=) c.879G= (p.Gly293=) | |
3 | g.128486001C>G | CA435764123 | GATA2 | c.597G>C (p.Gly199=) c.879G>C (p.Gly293=) | |
3 | g.128486001C>T | CA435764124 | GATA2 | c.597G>A (p.Gly199=) c.879G>A (p.Gly293=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486002C>A | CA2599992 | GATA2 | c.596G>T (p.Gly199Val) c.878G>T (p.Gly293Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486002C= | CA1400719330 | GATA2 | c.596G= (p.Gly199=) c.878G= (p.Gly293=) | |
3 | g.128486002C>G | CA354406449 | GATA2 | c.596G>C (p.Gly199Ala) c.878G>C (p.Gly293Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486002C>T | CA354406448 | GATA2 | c.596G>A (p.Gly199Glu) c.878G>A (p.Gly293Glu) | dbSNP gnomAD v4 |
3 | g.128486003C>A | CA354406450 | GATA2 | c.595G>T (p.Gly199Trp) c.877G>T (p.Gly293Trp) | |
3 | g.128486003C= | CA1400719331 | GATA2 | c.595G= (p.Gly199=) c.877G= (p.Gly293=) | |
3 | g.128486003C>G | CA354406451 | GATA2 | c.595G>C (p.Gly199Arg) c.877G>C (p.Gly293Arg) | |
3 | g.128486003C>T | CA354406452 | GATA2 | c.595G>A (p.Gly199Arg) c.877G>A (p.Gly293Arg) | dbSNP |
3 | g.128486004C>A | CA435764125 | GATA2 | c.594G>T (p.Ala198=) c.876G>T (p.Ala292=) | |
3 | g.128486004C= | CA1400719332 | GATA2 | c.594G= (p.Ala198=) c.876G= (p.Ala292=) | |
3 | g.128486004C>G | CA435764126 | GATA2 | c.594G>C (p.Ala198=) c.876G>C (p.Ala292=) | |
3 | g.128486004C>T | CA435764127 | GATA2 | c.594G>A (p.Ala198=) c.876G>A (p.Ala292=) | dbSNP |
3 | g.128486005del | CA1139532788 | GATA2 | c.593del (p.Ala198GlyfsTer20) c.875del (p.Ala292GlyfsTer20) | ClinVar dbSNP |
3 | g.128486005G>A | CA2599993 | GATA2 | c.593C>T (p.Ala198Val) c.875C>T (p.Ala292Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486005G>C | CA354406453 | GATA2 | c.593C>G (p.Ala198Gly) c.875C>G (p.Ala292Gly) | |
3 | g.128486005G= | CA1400719333 | GATA2 | c.593C= (p.Ala198=) c.875C= (p.Ala292=) | |
3 | g.128486005G>T | CA354406454 | GATA2 | c.593C>A (p.Ala198Glu) c.875C>A (p.Ala292Glu) | |
3 | g.128486005_128486012dup | CA1139532789 | GATA2 | c.586_593dup (p.Gly199LeufsTer22) c.868_875dup (p.Gly293LeufsTer22) | ClinVar dbSNP |
3 | g.128486006C>A | CA354406455 | GATA2 | c.592G>T (p.Ala198Ser) c.874G>T (p.Ala292Ser) | ClinVar dbSNP |
3 | g.128486006C= | CA1400719334 | GATA2 | c.592G= (p.Ala198=) c.874G= (p.Ala292=) | |
3 | g.128486006C>G | CA354406456 | GATA2 | c.592G>C (p.Ala198Pro) c.874G>C (p.Ala292Pro) | ClinVar dbSNP |
3 | g.128486006C>T | CA354406457 | GATA2 | c.592G>A (p.Ala198Thr) c.874G>A (p.Ala292Thr) | ClinVar dbSNP |
3 | g.128486007G>A | CA435764128 | GATA2 | c.591C>T (p.Ser197=) c.873C>T (p.Ser291=) | ClinVar dbSNP |