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.128485971_128485985dup | CA2740090992 | GATA2 | c.615_629dup (p.Gly210_Val211insGluAspLysAspGly) c.897_911dup (p.Gly304_Val305insGluAspLysAspGly) | ClinVar |
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.128485972T>A | CA354406385 | GATA2 | c.626A>T (p.Asp209Val) c.908A>T (p.Asp303Val) | |
3 | g.128485972T>C | CA354406386 | GATA2 | c.626A>G (p.Asp209Gly) c.908A>G (p.Asp303Gly) | |
3 | g.128485972T>G | CA354406387 | GATA2 | c.626A>C (p.Asp209Ala) c.908A>C (p.Asp303Ala) | |
3 | g.128485973C>A | CA354406388 | GATA2 | c.625G>T (p.Asp209Tyr) c.907G>T (p.Asp303Tyr) | |
3 | g.128485973C= | CA1400719314 | GATA2 | c.625G= (p.Asp209=) c.907G= (p.Asp303=) | |
3 | g.128485973C>G | CA354406389 | GATA2 | c.625G>C (p.Asp209His) c.907G>C (p.Asp303His) | |
3 | g.128485973C>T | CA83371863 | GATA2 | c.625G>A (p.Asp209Asn) c.907G>A (p.Asp303Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485974C>A | CA354406390 | GATA2 | c.624G>T (p.Lys208Asn) c.906G>T (p.Lys302Asn) | |
3 | g.128485974C>G | CA354406391 | GATA2 | c.624G>C (p.Lys208Asn) c.906G>C (p.Lys302Asn) | |
3 | g.128485974C>T | CA435764094 | GATA2 | c.624G>A (p.Lys208=) c.906G>A (p.Lys302=) | dbSNP |
3 | g.128485975T>A | CA354406393 | GATA2 | c.623A>T (p.Lys208Met) c.905A>T (p.Lys302Met) | |
3 | g.128485975T>C | CA354406394 | GATA2 | c.623A>G (p.Lys208Arg) c.905A>G (p.Lys302Arg) | |
3 | g.128485975T>G | CA354406392 | GATA2 | c.623A>C (p.Lys208Thr) c.905A>C (p.Lys302Thr) | gnomAD v4 |
3 | g.128485976T>A | CA354406395 | GATA2 | c.622A>T (p.Lys208Ter) c.904A>T (p.Lys302Ter) | |
3 | g.128485976T>C | CA354406396 | GATA2 | c.622A>G (p.Lys208Glu) c.904A>G (p.Lys302Glu) | |
3 | g.128485976T>G | CA354406397 | GATA2 | c.622A>C (p.Lys208Gln) c.904A>C (p.Lys302Gln) | |
3 | g.128485977G>A | CA435764098 | GATA2 | c.621C>T (p.Asp207=) c.903C>T (p.Asp301=) | |
3 | g.128485977G>C | CA354406398 | GATA2 | c.621C>G (p.Asp207Glu) c.903C>G (p.Asp301Glu) | gnomAD v4 |
3 | g.128485977G>T | CA354406399 | GATA2 | c.621C>A (p.Asp207Glu) c.903C>A (p.Asp301Glu) | |
3 | g.128485978T>A | CA354406400 | GATA2 | c.620A>T (p.Asp207Val) c.902A>T (p.Asp301Val) | |
3 | g.128485978T>C | CA354406401 | GATA2 | c.620A>G (p.Asp207Gly) c.902A>G (p.Asp301Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.128485978T>G | CA354406402 | GATA2 | c.620A>C (p.Asp207Ala) c.902A>C (p.Asp301Ala) | |
3 | g.128485979C>A | CA354406403 | GATA2 | c.619G>T (p.Asp207Tyr) c.901G>T (p.Asp301Tyr) | |
3 | g.128485979C= | CA1400719315 | GATA2 | c.619G= (p.Asp207=) c.901G= (p.Asp301=) | |
3 | g.128485979C>G | CA354406404 | GATA2 | c.619G>C (p.Asp207His) c.901G>C (p.Asp301His) | |
3 | g.128485979C>T | CA354406405 | GATA2 | c.619G>A (p.Asp207Asn) c.901G>A (p.Asp301Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.128485980C>A | CA354406406 | GATA2 | c.618G>T (p.Glu206Asp) c.900G>T (p.Glu300Asp) | |
3 | g.128485980C>G | CA354406407 | GATA2 | c.618G>C (p.Glu206Asp) c.900G>C (p.Glu300Asp) | |
3 | g.128485980C>T | CA435764100 | GATA2 | c.618G>A (p.Glu206=) c.900G>A (p.Glu300=) | gnomAD v4 |
3 | g.128485981T>A | CA354406410 | GATA2 | c.617A>T (p.Glu206Val) c.899A>T (p.Glu300Val) | |
3 | g.128485981T>C | CA354406409 | GATA2 | c.617A>G (p.Glu206Gly) c.899A>G (p.Glu300Gly) | |
3 | g.128485981T>G | CA354406408 | GATA2 | c.617A>C (p.Glu206Ala) c.899A>C (p.Glu300Ala) | |
3 | g.128485982C>A | CA354406411 | GATA2 | c.616G>T (p.Glu206Ter) c.898G>T (p.Glu300Ter) | |
3 | g.128485982C= | CA1400719316 | GATA2 | c.616G= (p.Glu206=) c.898G= (p.Glu300=) | |
3 | g.128485982C>G | CA16611249 | GATA2 | c.616G>C (p.Glu206Gln) c.898G>C (p.Glu300Gln) | ClinVar dbSNP |
3 | g.128485982C>T | CA354406412 | GATA2 | c.616G>A (p.Glu206Lys) c.898G>A (p.Glu300Lys) | |
3 | g.128485983T>A | CA435764101 | GATA2 | c.615A>T (p.Gly205=) c.897A>T (p.Gly299=) | |
3 | g.128485983T>C | CA435764102 | GATA2 | c.615A>G (p.Gly205=) c.897A>G (p.Gly299=) | |
3 | g.128485983T>G | CA435764103 | GATA2 | c.615A>C (p.Gly205=) c.897A>C (p.Gly299=) | |
3 | g.128485984C>A | CA354406413 | GATA2 | c.614G>T (p.Gly205Val) c.896G>T (p.Gly299Val) | |
3 | g.128485984C= | CA1400719317 | GATA2 | c.614G= (p.Gly205=) c.896G= (p.Gly299=) | |
3 | g.128485984C>G | CA354406414 | GATA2 | c.614G>C (p.Gly205Ala) c.896G>C (p.Gly299Ala) | |
3 | g.128485984C>T | CA354406415 | GATA2 | c.614G>A (p.Gly205Glu) c.896G>A (p.Gly299Glu) | ClinVar dbSNP |
3 | g.128485985C>A | CA354406416 | GATA2 | c.613G>T (p.Gly205Ter) c.895G>T (p.Gly299Ter) | |
3 | g.128485985C= | CA1400719318 | GATA2 | c.613G= (p.Gly205=) c.895G= (p.Gly299=) |