Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.128481845_128482000delinsGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCTCA2695239087GATA2c.1018-56_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC
c.1300-56_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC
c.1018-98_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC
n.79_234delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC
3g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCTCA2695239779GATA2c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG
c.1300-401_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG
c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG
3g.128481845_128483001delinsCCCTGCCCCCGCGGCTGCAGTCCCTCTGTCCCTTCTGTGACCAGGCTTGGGCCTGGGGCTGTTCCAGGCTCTGCAGGCCTCAGCCCCCAGCCCCCCACACTCACCACCTGGTGCACTCCCGCCTGCAGTTCTCTGGGAAGTGTTGGGGGACCCCCTCTGTCACTGTGGGGCTGGCGTTGGTGGAACCGGGAGAGGGGATCTGTTTTCTTGGGTAAAGCCTCCCTCTAGCTTCTCTCTGCAAGGACCAGGCGCTCATTTCCAGACCCTACCTCTGCCAGGCATTTCCTGAGGGACTAGGACTCAGAGGGGCTGCGGGGTGGTTAAAGCTCTAAGGGTTGGGGTATGGGGGGCTGGATGGGGGGGATCAGCACTCACATCAGCTGGAGAGATGGAAAAGTTCTGTGTCTGCACTGCCCACTGTGGTAGCCCCTGGCCACATGTGAATATTGATCACTTGAAATGTGGCTCGTGCAATTGAGGGAACTGGGTTTTTAATTTTGTTAATTTGTAGTTAGATCTTATTTAAATGGCTGCCTGTGGCCAGCTGCTACAGTGTTGGACGGTGCAGCTCTGCACTCTGTAAACCTGCGCTGGCCTCAGCGACACTGACTCACCCAGGATTATGGATTTTGAGCGGAGTCGTGCTAGAGGAGACACAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCTCA2695239089GATA2c.1017+859_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG
c.1299+859_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG
c.1017+859_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG
3g.128481845_128484000dupCA2695239090GATA2c.877_1117dup
c.1159_1399dup
c.877_1075dup
3g.128481878_128481934dupCA2580068710GATA2c.1031_1087dup (p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg)
c.1313_1369dup (p.Arg456_Asn457insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg)
c.14_70dup (p.Arg23_Asn24insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg)
c.1018-29_1045dup
n.148_204dup
ClinVar
3g.128481905_128481932delCA2586965875GATA2c.1033_1060del (p.Ala345ArgfsTer?)
c.1315_1342del (p.Ala439ArgfsTer?)
c.16_43del (p.Ala6ArgfsTer?)
c.1018-27_1018del
n.150_177del
3g.128481913_128481931delCA2499216436GATA2c.1031_1049del (p.Arg344LysfsTer?)
c.1313_1331del (p.Arg438LysfsTer?)
c.14_32del (p.Arg5LysfsTer?)
c.1018-29_1018-11del (n.1018-29_1018-11del)
n.148_166del
ClinVar dbSNP
3g.128481926_128481929dupCA2499216438GATA2c.1035_1038dup (p.Thr347ArgfsTer?)
c.1317_1320dup (p.Thr441ArgfsTer?)
c.18_21dup (p.Thr8ArgfsTer?)
c.1018-25_1018-22dup (n.1018-25_1018-22dup)
n.152_155dup
ClinVar dbSNP
3g.128481924_128481941delCA645529129GATA2c.1021_1038del (p.Ala341_Gly346del)
c.1303_1320del (p.Ala435_Gly440del)
c.4_21del (p.Ala2_Gly7del)
c.1018-39_1018-22del (n.1018-39_1018-22del)
n.138_155del
COSMIC
3g.128481928_128481943dupCA16021038GATA2c.1023_1038dup (p.Thr347ArgfsTer?)
c.1305_1320dup (p.Thr441ArgfsTer?)
c.6_21dup (p.Thr8ArgfsTer?)
c.1018-37_1018-22dup (n.1018-37_1018-22dup)
n.140_155dup
ClinVar dbSNP
3g.128481925_128481954delCA2499216439GATA2c.1018-10_1037del
c.1300-10_1319del
c.1018-52_1018-23del (n.1018-52_1018-23del)
n.125_154del
ClinVar dbSNP
3g.128481927_128481931dupCA2586965876GATA2c.1032_1036dup (p.Gly346GlufsTer?)
c.1314_1318dup (p.Gly440GlufsTer?)
c.15_19dup (p.Gly7GlufsTer?)
c.1018-28_1018-24dup (n.1018-28_1018-24dup)
n.149_153dup
3g.128481926_128481944delinsAAATTCA2580068712GATA2c.1018_1036delinsAATTT (p.Ser340AsnfsTer?)
c.1300_1318delinsAATTT (p.Ser434AsnfsTer?)
c.1_19delinsAATTT (p.Ser1AsnfsTer?)
c.1018-42_1018-24delinsAATTT (n.1018-42_1018-24delinsAATTT)
n.135_153delinsAATTT
ClinVar
3g.128481927G>ACA2599875GATA2c.1035C>T (p.Ala345=)
c.1317C>T (p.Ala439=)
c.18C>T (p.Ala6=)
c.1018-25C>T (n.1018-25C>T)
n.152C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.128481927G>CCA10582134GATA2c.1035C>G (p.Ala345=)
c.1317C>G (p.Ala439=)
c.18C>G (p.Ala6=)
c.1018-25C>G (n.1018-25C>G)
n.152C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.128481927G=CA1400715294GATA2c.1035C= (p.Ala345=)
c.1317C= (p.Ala439=)
c.18C= (p.Ala6=)
c.1018-25C= (n.1018-25C=)
n.152C=
3g.128481927G>TCA435525613GATA2c.1035C>A (p.Ala345=)
c.1317C>A (p.Ala439=)
c.18C>A (p.Ala6=)
c.1018-25C>A (n.1018-25C>A)
n.152C>A
3g.128481929_128481930insCAGAGGCCA2499216440GATA2c.1035_1036insTCTGGCC (p.Gly346SerfsTer?)
c.1317_1318insTCTGGCC (p.Gly440SerfsTer?)
c.18_19insTCTGGCC (p.Gly7SerfsTer?)
c.1018-25_1018-24insTCTGGCC (n.1018-25_1018-24insTCTGGCC)
n.152_153insTCTGGCC
ClinVar dbSNP
3g.128481928G>ACA354413680GATA2c.1034C>T (p.Ala345Val)
c.1316C>T (p.Ala439Val)
c.17C>T (p.Ala6Val)
c.1018-26C>T (n.1018-26C>T)
n.151C>T
3g.128481928G>CCA354413681GATA2c.1034C>G (p.Ala345Gly)
c.1316C>G (p.Ala439Gly)
c.17C>G (p.Ala6Gly)
c.1018-26C>G (n.1018-26C>G)
n.151C>G
3g.128481928G>TCA354413682GATA2c.1034C>A (p.Ala345Asp)
c.1316C>A (p.Ala439Asp)
c.17C>A (p.Ala6Asp)
c.1018-26C>A (n.1018-26C>A)
n.151C>A
ClinVar dbSNP
3g.128481929_128481930insCGCCAGAAGAGCCGCCACAAGAAGAGCCA1139533021GATA2c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla)
c.1316_1317insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala439_Gly440insLeuLeuValAlaAlaLeuLeuAlaAla)
c.17_18insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala6_Gly7insLeuLeuValAlaAlaLeuLeuAlaAla)
c.1018-26_1018-25insTCTTCTTGTGGCGGCTCTTCTGGCGGC (n.1018-26_1018-25insTCTTCTTGTGGCGGCTCTTCTGGCGGC)
n.151_152insTCTTCTTGTGGCGGCTCTTCTGGCGGC
dbSNP
3g.128481929C>ACA354413683GATA2c.1033G>T (p.Ala345Ser)
c.1315G>T (p.Ala439Ser)
c.16G>T (p.Ala6Ser)
c.1018-27G>T (n.1018-27G>T)
n.150G>T
3g.128481929C>GCA354413684GATA2c.1033G>C (p.Ala345Pro)
c.1315G>C (p.Ala439Pro)
c.16G>C (p.Ala6Pro)
c.1018-27G>C (n.1018-27G>C)
n.150G>C
3g.128481929C>TCA354413685GATA2c.1033G>A (p.Ala345Thr)
c.1315G>A (p.Ala439Thr)
c.16G>A (p.Ala6Thr)
c.1018-27G>A (n.1018-27G>A)
n.150G>A
3g.128481930T>ACA354413686GATA2c.1032A>T (p.Arg344Ser)
c.1314A>T (p.Arg438Ser)
c.15A>T (p.Arg5Ser)
c.1018-28A>T (n.1018-28A>T)
n.149A>T
gnomAD v4
3g.128481930T>CCA435525614GATA2c.1032A>G (p.Arg344=)
c.1314A>G (p.Arg438=)
c.15A>G (p.Arg5=)
c.1018-28A>G (n.1018-28A>G)
n.149A>G
ClinVar dbSNP
3g.128481930T>GCA354413687GATA2c.1032A>C (p.Arg344Ser)
c.1314A>C (p.Arg438Ser)
c.15A>C (p.Arg5Ser)
c.1018-28A>C (n.1018-28A>C)
n.149A>C
3g.128481930T=CA1400715300GATA2c.1032A= (p.Arg344=)
c.1314A= (p.Arg438=)
c.15A= (p.Arg5=)
c.1018-28A= (n.1018-28A=)
n.149A=
3g.128481931C>ACA354413690GATA2c.1031G>T (p.Arg344Ile)
c.1313G>T (p.Arg438Ile)
c.14G>T (p.Arg5Ile)
c.1018-29G>T (n.1018-29G>T)
n.148G>T
dbSNP
3g.128481931C=CA1400715304GATA2c.1031G= (p.Arg344=)
c.1313G= (p.Arg438=)
c.14G= (p.Arg5=)
c.1018-29G= (n.1018-29G=)
n.148G=
3g.128481931C>GCA354413689GATA2c.1031G>C (p.Arg344Thr)
c.1313G>C (p.Arg438Thr)
c.14G>C (p.Arg5Thr)
c.1018-29G>C (n.1018-29G>C)
n.148G>C
dbSNP
3g.128481931C>TCA354413688GATA2c.1031G>A (p.Arg344Lys)
c.1313G>A (p.Arg438Lys)
c.14G>A (p.Arg5Lys)
c.1018-29G>A (n.1018-29G>A)
n.148G>A
dbSNP gnomAD v4
3g.128481932_128481942delCA2499216442GATA2c.1021_1031del (p.Ala341SerfsTer?)
c.1303_1313del (p.Ala435SerfsTer?)
c.4_14del (p.Ala2SerfsTer?)
c.1018-39_1018-29del (n.1018-39_1018-29del)
n.138_148del
ClinVar dbSNP
3g.128481931_128481947delCA2499216441GATA2c.1018-3_1031del
c.1300-3_1313del
c.1018-45_1018-29del (n.1018-45_1018-29del)
n.132_148del
ClinVar dbSNP
3g.128481932T>ACA354413691GATA2c.1030A>T (p.Arg344Ter)
c.1312A>T (p.Arg438Ter)
c.13A>T (p.Arg5Ter)
c.1018-30A>T (n.1018-30A>T)
n.147A>T
3g.128481932T>CCA354413692GATA2c.1030A>G (p.Arg344Gly)
c.1312A>G (p.Arg438Gly)
c.13A>G (p.Arg5Gly)
c.1018-30A>G (n.1018-30A>G)
n.147A>G
ClinVar
3g.128481932T>GCA435525615GATA2c.1030A>C (p.Arg344=)
c.1312A>C (p.Arg438=)
c.13A>C (p.Arg5=)
c.1018-30A>C (n.1018-30A>C)
n.147A>C
3g.128481933T>ACA354413693GATA2c.1029A>T (p.Arg343Ser)
c.1311A>T (p.Arg437Ser)
c.12A>T (p.Arg4Ser)
c.1018-31A>T (n.1018-31A>T)
n.146A>T
3g.128481933T>CCA435525616GATA2c.1029A>G (p.Arg343=)
c.1311A>G (p.Arg437=)
c.12A>G (p.Arg4=)
c.1018-31A>G (n.1018-31A>G)
n.146A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.128481933T>GCA354413694GATA2c.1029A>C (p.Arg343Ser)
c.1311A>C (p.Arg437Ser)
c.12A>C (p.Arg4Ser)
c.1018-31A>C (n.1018-31A>C)
n.146A>C
3g.128481933T=CA1400715309GATA2c.1029A= (p.Arg343=)
c.1311A= (p.Arg437=)
c.12A= (p.Arg4=)
c.1018-31A= (n.1018-31A=)
n.146A=
3g.128481933_128481942dupCA2499216443GATA2c.1020_1029dup (p.Arg344GlyfsTer?)
c.1302_1311dup (p.Arg438GlyfsTer?)
c.3_12dup (p.Arg5GlyfsTer?)
c.1018-40_1018-31dup (n.1018-40_1018-31dup)
n.137_146dup
ClinVar dbSNP
3g.128481934C>ACA354413695GATA2c.1028G>T (p.Arg343Ile)
c.1310G>T (p.Arg437Ile)
c.11G>T (p.Arg4Ile)
c.1018-32G>T (n.1018-32G>T)
n.145G>T
3g.128481934C=CA1400715316GATA2c.1028G= (p.Arg343=)
c.1310G= (p.Arg437=)
c.11G= (p.Arg4=)
c.1018-32G= (n.1018-32G=)
n.145G=
3g.128481934C>GCA354413696GATA2c.1028G>C (p.Arg343Thr)
c.1310G>C (p.Arg437Thr)
c.11G>C (p.Arg4Thr)
c.1018-32G>C (n.1018-32G>C)
n.145G>C
3g.128481934C>TCA354413697GATA2c.1028G>A (p.Arg343Lys)
c.1310G>A (p.Arg437Lys)
c.11G>A (p.Arg4Lys)
c.1018-32G>A (n.1018-32G>A)
n.145G>A
3g.128481934dupCA2586965877GATA2c.1028dup (p.Arg344LysfsTer?)
c.1310dup (p.Arg438LysfsTer?)
c.11dup (p.Arg5LysfsTer?)
c.1018-32dup (n.1018-32dup)
n.145dup
3g.128481938_128481948delCA2499216449GATA2c.1018_1028del
c.1300_1310del
c.1018-42_1018-32del (n.1018-42_1018-32del)
n.135_145del
ClinVar
3g.128481935T>ACA354413698GATA2c.1027A>T (p.Arg343Ter)
c.1309A>T (p.Arg437Ter)
c.10A>T (p.Arg4Ter)
c.1018-33A>T (n.1018-33A>T)
n.144A>T
ClinVar dbSNP

Number of alleles fetched