Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.128482191_128482192insATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTA | CA2502466036 | GATA2 | c.1018-200_1018-199insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT (n.1018-200_1018-199insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT) c.1300-200_1300-199insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT (n.1300-200_1300-199insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT) c.1018-242_1018-241insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT (n.1018-242_1018-241insAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCT) | |
3 | g.128482170A= | CA1400715676 | GATA2 | c.1018-226T= (n.1018-226T=) c.1300-226T= (n.1300-226T=) c.1018-268T= (n.1018-268T=) | |
3 | g.128482170A>C | CA11420023 | GATA2 | c.1018-226T>G (n.1018-226T>G) c.1300-226T>G (n.1300-226T>G) c.1018-268T>G (n.1018-268T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128482171T>A | CA2667540676 | GATA2 | c.1018-227A>T (n.1018-227A>T) c.1300-227A>T (n.1300-227A>T) c.1018-269A>T (n.1018-269A>T) | gnomAD v4 |
3 | g.128482171T>C | CA2667540677 | GATA2 | c.1018-227A>G (n.1018-227A>G) c.1300-227A>G (n.1300-227A>G) c.1018-269A>G (n.1018-269A>G) | gnomAD v4 |
3 | g.128482172C>A | CA2667540678 | GATA2 | c.1018-228G>T (n.1018-228G>T) c.1300-228G>T (n.1300-228G>T) c.1018-270G>T (n.1018-270G>T) | gnomAD v4 |
3 | g.128482172C>G | CA2667540680 | GATA2 | c.1018-228G>C (n.1018-228G>C) c.1300-228G>C (n.1300-228G>C) c.1018-270G>C (n.1018-270G>C) | gnomAD v4 |
3 | g.128482172C>T | CA2667540679 | GATA2 | c.1018-228G>A (n.1018-228G>A) c.1300-228G>A (n.1300-228G>A) c.1018-270G>A (n.1018-270G>A) | gnomAD v4 |
3 | g.128482173A= | CA1400715678 | GATA2 | c.1018-229T= (n.1018-229T=) c.1300-229T= (n.1300-229T=) c.1018-271T= (n.1018-271T=) | |
3 | g.128482173A>C | CA83376680 | GATA2 | c.1018-229T>G (n.1018-229T>G) c.1300-229T>G (n.1300-229T>G) c.1018-271T>G (n.1018-271T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128482173A>T | CA1400715681 | GATA2 | c.1018-229T>A (n.1018-229T>A) c.1300-229T>A (n.1300-229T>A) c.1018-271T>A (n.1018-271T>A) | dbSNP gnomAD v4 |
3 | g.128482174A>C | CA2667540681 | GATA2 | c.1018-230T>G (n.1018-230T>G) c.1300-230T>G (n.1300-230T>G) c.1018-272T>G (n.1018-272T>G) | gnomAD v4 |
3 | g.128482174A>G | CA2667540682 | GATA2 | c.1018-230T>C (n.1018-230T>C) c.1300-230T>C (n.1300-230T>C) c.1018-272T>C (n.1018-272T>C) | gnomAD v4 |
3 | g.128482174A>T | CA2667540683 | GATA2 | c.1018-230T>A (n.1018-230T>A) c.1300-230T>A (n.1300-230T>A) c.1018-272T>A (n.1018-272T>A) | gnomAD v4 |
3 | g.128482175C>A | CA2667540684 | GATA2 | c.1018-231G>T (n.1018-231G>T) c.1300-231G>T (n.1300-231G>T) c.1018-273G>T (n.1018-273G>T) | gnomAD v4 |
3 | g.128482175C= | CA1400715683 | GATA2 | c.1018-231G= (n.1018-231G=) c.1300-231G= (n.1300-231G=) c.1018-273G= (n.1018-273G=) | |
3 | g.128482175C>T | CA83376683 | GATA2 | c.1018-231G>A (n.1018-231G>A) c.1300-231G>A (n.1300-231G>A) c.1018-273G>A (n.1018-273G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128482176G>A | CA83376688 | GATA2 | c.1018-232C>T (n.1018-232C>T) c.1300-232C>T (n.1300-232C>T) c.1018-274C>T (n.1018-274C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128482176G= | CA1400715685 | GATA2 | c.1018-232C= (n.1018-232C=) c.1300-232C= (n.1300-232C=) c.1018-274C= (n.1018-274C=) | |
3 | g.128482176G>T | CA1400715687 | GATA2 | c.1018-232C>A (n.1018-232C>A) c.1300-232C>A (n.1300-232C>A) c.1018-274C>A (n.1018-274C>A) | dbSNP gnomAD v4 |
3 | g.128482177G>A | CA2667540685 | GATA2 | c.1018-233C>T (n.1018-233C>T) c.1300-233C>T (n.1300-233C>T) c.1018-275C>T (n.1018-275C>T) | gnomAD v4 |
3 | g.128482177G>T | CA2667540686 | GATA2 | c.1018-233C>A (n.1018-233C>A) c.1300-233C>A (n.1300-233C>A) c.1018-275C>A (n.1018-275C>A) | gnomAD v4 |
3 | g.128482178G>A | CA2667540687 | GATA2 | c.1018-234C>T (n.1018-234C>T) c.1300-234C>T (n.1300-234C>T) c.1018-276C>T (n.1018-276C>T) | gnomAD v4 |
3 | g.128482178G>C | CA2667540688 | GATA2 | c.1018-234C>G (n.1018-234C>G) c.1300-234C>G (n.1300-234C>G) c.1018-276C>G (n.1018-276C>G) | gnomAD v4 |
3 | g.128482178G>T | CA2667540689 | GATA2 | c.1018-234C>A (n.1018-234C>A) c.1300-234C>A (n.1300-234C>A) c.1018-276C>A (n.1018-276C>A) | gnomAD v4 |
3 | g.128482179A>C | CA2667540691 | GATA2 | c.1018-235T>G (n.1018-235T>G) c.1300-235T>G (n.1300-235T>G) c.1018-277T>G (n.1018-277T>G) | gnomAD v4 |
3 | g.128482179A>T | CA2667540690 | GATA2 | c.1018-235T>A (n.1018-235T>A) c.1300-235T>A (n.1300-235T>A) c.1018-277T>A (n.1018-277T>A) | gnomAD v4 |
3 | g.128482180T>C | CA1400715692 | GATA2 | c.1018-236A>G (n.1018-236A>G) c.1300-236A>G (n.1300-236A>G) c.1018-278A>G (n.1018-278A>G) | dbSNP gnomAD v4 |
3 | g.128482180T>G | CA2667540692 | GATA2 | c.1018-236A>C (n.1018-236A>C) c.1300-236A>C (n.1300-236A>C) c.1018-278A>C (n.1018-278A>C) | gnomAD v4 |
3 | g.128482180T= | CA1400715690 | GATA2 | c.1018-236A= (n.1018-236A=) c.1300-236A= (n.1300-236A=) c.1018-278A= (n.1018-278A=) | |
3 | g.128482182G>A | CA1400715695 | GATA2 | c.1018-238C>T (n.1018-238C>T) c.1300-238C>T (n.1300-238C>T) c.1018-280C>T (n.1018-280C>T) | dbSNP gnomAD v4 |
3 | g.128482182G>C | CA1053361555 | GATA2 | c.1018-238C>G (n.1018-238C>G) c.1300-238C>G (n.1300-238C>G) c.1018-280C>G (n.1018-280C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128482182G= | CA1400715693 | GATA2 | c.1018-238C= (n.1018-238C=) c.1300-238C= (n.1300-238C=) c.1018-280C= (n.1018-280C=) | |
3 | g.128482182G>T | CA2667540693 | GATA2 | c.1018-238C>A (n.1018-238C>A) c.1300-238C>A (n.1300-238C>A) c.1018-280C>A (n.1018-280C>A) | gnomAD v4 |
3 | g.128482183C>A | CA2667540694 | GATA2 | c.1018-239G>T (n.1018-239G>T) c.1300-239G>T (n.1300-239G>T) c.1018-281G>T (n.1018-281G>T) | gnomAD v4 |
3 | g.128482183C>T | CA2667540695 | GATA2 | c.1018-239G>A (n.1018-239G>A) c.1300-239G>A (n.1300-239G>A) c.1018-281G>A (n.1018-281G>A) | gnomAD v4 |
3 | g.128482184A>G | CA2667540696 | GATA2 | c.1018-240T>C (n.1018-240T>C) c.1300-240T>C (n.1300-240T>C) c.1018-282T>C (n.1018-282T>C) | gnomAD v4 |
3 | g.128482184A>T | CA2667540697 | GATA2 | c.1018-240T>A (n.1018-240T>A) c.1300-240T>A (n.1300-240T>A) c.1018-282T>A (n.1018-282T>A) | gnomAD v4 |
3 | g.128482185A= | CA1400715698 | GATA2 | c.1018-241T= (n.1018-241T=) c.1300-241T= (n.1300-241T=) c.1018-283T= (n.1018-283T=) | |
3 | g.128482185A>C | CA898648255 | GATA2 | c.1018-241T>G (n.1018-241T>G) c.1300-241T>G (n.1300-241T>G) c.1018-283T>G (n.1018-283T>G) | dbSNP |
3 | g.128482185A>G | CA2667540698 | GATA2 | c.1018-241T>C (n.1018-241T>C) c.1300-241T>C (n.1300-241T>C) c.1018-283T>C (n.1018-283T>C) | gnomAD v4 |
3 | g.128482185_128482186delinsAG | CA1400715700 | GATA2 | c.1018-242_1018-241delinsCT (n.1018-242_1018-241delinsCT) c.1300-242_1300-241delinsCT (n.1300-242_1300-241delinsCT) c.1018-284_1018-283delinsCT (n.1018-284_1018-283delinsCT) | |
3 | g.128482186del | CA1400715703 | GATA2 | c.1018-242del (n.1018-242del) c.1300-242del (n.1300-242del) c.1018-284del (n.1018-284del) | dbSNP |
3 | g.128482186G>A | CA898648257 | GATA2 | c.1018-242C>T (n.1018-242C>T) c.1300-242C>T (n.1300-242C>T) c.1018-284C>T (n.1018-284C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128482186G= | CA1400715704 | GATA2 | c.1018-242C= (n.1018-242C=) c.1300-242C= (n.1300-242C=) c.1018-284C= (n.1018-284C=) | |
3 | g.128482186G>T | CA2667540699 | GATA2 | c.1018-242C>A (n.1018-242C>A) c.1300-242C>A (n.1300-242C>A) c.1018-284C>A (n.1018-284C>A) | gnomAD v4 |
3 | g.128482187A>T | CA2667540700 | GATA2 | c.1018-243T>A (n.1018-243T>A) c.1300-243T>A (n.1300-243T>A) c.1018-285T>A (n.1018-285T>A) | gnomAD v4 |