Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.128481845_128482000delinsGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239087 | GATA2 | c.1018-56_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1300-56_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1018-98_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC n.79_234delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC | |
3 | g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239779 | GATA2 | c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1300-401_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | |
3 | g.128481845_128483001delinsCCCTGCCCCCGCGGCTGCAGTCCCTCTGTCCCTTCTGTGACCAGGCTTGGGCCTGGGGCTGTTCCAGGCTCTGCAGGCCTCAGCCCCCAGCCCCCCACACTCACCACCTGGTGCACTCCCGCCTGCAGTTCTCTGGGAAGTGTTGGGGGACCCCCTCTGTCACTGTGGGGCTGGCGTTGGTGGAACCGGGAGAGGGGATCTGTTTTCTTGGGTAAAGCCTCCCTCTAGCTTCTCTCTGCAAGGACCAGGCGCTCATTTCCAGACCCTACCTCTGCCAGGCATTTCCTGAGGGACTAGGACTCAGAGGGGCTGCGGGGTGGTTAAAGCTCTAAGGGTTGGGGTATGGGGGGCTGGATGGGGGGGATCAGCACTCACATCAGCTGGAGAGATGGAAAAGTTCTGTGTCTGCACTGCCCACTGTGGTAGCCCCTGGCCACATGTGAATATTGATCACTTGAAATGTGGCTCGTGCAATTGAGGGAACTGGGTTTTTAATTTTGTTAATTTGTAGTTAGATCTTATTTAAATGGCTGCCTGTGGCCAGCTGCTACAGTGTTGGACGGTGCAGCTCTGCACTCTGTAAACCTGCGCTGGCCTCAGCGACACTGACTCACCCAGGATTATGGATTTTGAGCGGAGTCGTGCTAGAGGAGACACAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239089 | GATA2 | c.1017+859_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1299+859_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1017+859_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG | |
3 | g.128481845_128484000dup | CA2695239090 | GATA2 | c.877_1117dup c.1159_1399dup c.877_1075dup | |
3 | g.128481878_128481934dup | CA2580068710 | GATA2 | c.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 |
3 | g.128481905_128481932del | CA2586965875 | GATA2 | c.1033_1060del (p.Ala345ArgfsTer?) c.1315_1342del (p.Ala439ArgfsTer?) c.16_43del (p.Ala6ArgfsTer?) c.1018-27_1018del n.150_177del | |
3 | g.128481913_128481931del | CA2499216436 | GATA2 | c.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 |
3 | g.128481926_128481929dup | CA2499216438 | GATA2 | c.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 |
3 | g.128481924_128481941del | CA645529129 | GATA2 | c.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 |
3 | g.128481928_128481943dup | CA16021038 | GATA2 | c.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 |
3 | g.128481925_128481954del | CA2499216439 | GATA2 | c.1018-10_1037del c.1300-10_1319del c.1018-52_1018-23del (n.1018-52_1018-23del) n.125_154del | ClinVar dbSNP |
3 | g.128481927_128481931dup | CA2586965876 | GATA2 | c.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 | |
3 | g.128481926_128481944delinsAAATT | CA2580068712 | GATA2 | c.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 |
3 | g.128481927G>A | CA2599875 | GATA2 | c.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 |
3 | g.128481927G>C | CA10582134 | GATA2 | c.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 |
3 | g.128481927G= | CA1400715294 | GATA2 | c.1035C= (p.Ala345=) c.1317C= (p.Ala439=) c.18C= (p.Ala6=) c.1018-25C= (n.1018-25C=) n.152C= | |
3 | g.128481927G>T | CA435525613 | GATA2 | c.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 | |
3 | g.128481929_128481930insCAGAGGC | CA2499216440 | GATA2 | c.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 |
3 | g.128481928G>A | CA354413680 | GATA2 | c.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 | |
3 | g.128481928G>C | CA354413681 | GATA2 | c.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 | |
3 | g.128481928G>T | CA354413682 | GATA2 | c.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 |
3 | g.128481929_128481930insCGCCAGAAGAGCCGCCACAAGAAGAGC | CA1139533021 | GATA2 | c.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 |
3 | g.128481929C>A | CA354413683 | GATA2 | c.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 | |
3 | g.128481929C>G | CA354413684 | GATA2 | c.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 | |
3 | g.128481929C>T | CA354413685 | GATA2 | c.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 | |
3 | g.128481930T>A | CA354413686 | GATA2 | c.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 |
3 | g.128481930T>C | CA435525614 | GATA2 | c.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 |
3 | g.128481930T>G | CA354413687 | GATA2 | c.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 | |
3 | g.128481930T= | CA1400715300 | GATA2 | c.1032A= (p.Arg344=) c.1314A= (p.Arg438=) c.15A= (p.Arg5=) c.1018-28A= (n.1018-28A=) n.149A= | |
3 | g.128481931C>A | CA354413690 | GATA2 | c.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 |
3 | g.128481931C= | CA1400715304 | GATA2 | c.1031G= (p.Arg344=) c.1313G= (p.Arg438=) c.14G= (p.Arg5=) c.1018-29G= (n.1018-29G=) n.148G= | |
3 | g.128481931C>G | CA354413689 | GATA2 | c.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 |
3 | g.128481931C>T | CA354413688 | GATA2 | c.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 |
3 | g.128481932_128481942del | CA2499216442 | GATA2 | c.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 |
3 | g.128481931_128481947del | CA2499216441 | GATA2 | c.1018-3_1031del c.1300-3_1313del c.1018-45_1018-29del (n.1018-45_1018-29del) n.132_148del | ClinVar dbSNP |
3 | g.128481932T>A | CA354413691 | GATA2 | c.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 | |
3 | g.128481932T>C | CA354413692 | GATA2 | c.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 |
3 | g.128481932T>G | CA435525615 | GATA2 | c.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 | |
3 | g.128481933T>A | CA354413693 | GATA2 | c.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 | |
3 | g.128481933T>C | CA435525616 | GATA2 | c.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 |
3 | g.128481933T>G | CA354413694 | GATA2 | c.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 | |
3 | g.128481933T= | CA1400715309 | GATA2 | c.1029A= (p.Arg343=) c.1311A= (p.Arg437=) c.12A= (p.Arg4=) c.1018-31A= (n.1018-31A=) n.146A= | |
3 | g.128481933_128481942dup | CA2499216443 | GATA2 | c.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 |
3 | g.128481934C>A | CA354413695 | GATA2 | c.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 | |
3 | g.128481934C= | CA1400715316 | GATA2 | c.1028G= (p.Arg343=) c.1310G= (p.Arg437=) c.11G= (p.Arg4=) c.1018-32G= (n.1018-32G=) n.145G= | |
3 | g.128481934C>G | CA354413696 | GATA2 | c.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 | |
3 | g.128481934C>T | CA354413697 | GATA2 | c.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 | |
3 | g.128481934dup | CA2586965877 | GATA2 | c.1028dup (p.Arg344LysfsTer?) c.1310dup (p.Arg438LysfsTer?) c.11dup (p.Arg5LysfsTer?) c.1018-32dup (n.1018-32dup) n.145dup | |
3 | g.128481938_128481948del | CA2499216449 | GATA2 | c.1018_1028del c.1300_1310del c.1018-42_1018-32del (n.1018-42_1018-32del) n.135_145del | ClinVar |
3 | g.128481935T>A | CA354413698 | GATA2 | c.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 |