| 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.128486256dup | CA658796375 | GATA2 | c.345dup (p.Trp116LeufsTer?) c.627dup (p.Trp210LeufsTer?) | ClinVar dbSNP |
| 3 | g.128486254_128486259dup | CA2667541076 | GATA2 | c.340_345dup (p.Pro115_Trp116insAsnPro) c.622_627dup (p.Pro209_Trp210insAsnPro) | gnomAD v4 |
| 3 | g.128486255G>A | CA354407223 | GATA2 | c.343C>T (p.Pro115Ser) c.625C>T (p.Pro209Ser) | |
| 3 | g.128486255G>C | CA354407225 | GATA2 | c.343C>G (p.Pro115Ala) c.625C>G (p.Pro209Ala) | |
| 3 | g.128486255G>T | CA354407227 | GATA2 | c.343C>A (p.Pro115Thr) c.625C>A (p.Pro209Thr) | gnomAD v4 |
| 3 | g.128486256G>A | CA435764057 | GATA2 | c.342C>T (p.Asn114=) c.624C>T (p.Asn208=) | ClinVar dbSNP |
| 3 | g.128486256G>C | CA354407230 | GATA2 | c.342C>G (p.Asn114Lys) c.624C>G (p.Asn208Lys) | |
| 3 | g.128486256G= | CA1400719478 | GATA2 | c.342C= (p.Asn114=) c.624C= (p.Asn208=) | |
| 3 | g.128486256G>T | CA354407231 | GATA2 | c.342C>A (p.Asn114Lys) c.624C>A (p.Asn208Lys) | ClinVar |
| 3 | g.128486257T>A | CA354407241 | GATA2 | c.341A>T (p.Asn114Ile) c.623A>T (p.Asn208Ile) | |
| 3 | g.128486257T>C | CA354407238 | GATA2 | c.341A>G (p.Asn114Ser) c.623A>G (p.Asn208Ser) | ClinVar dbSNP |
| 3 | g.128486257T>G | CA354407235 | GATA2 | c.341A>C (p.Asn114Thr) c.623A>C (p.Asn208Thr) | |
| 3 | g.128486257T= | CA1400719479 | GATA2 | c.341A= (p.Asn114=) c.623A= (p.Asn208=) | |
| 3 | g.128486258T>A | CA354407244 | GATA2 | c.340A>T (p.Asn114Tyr) c.622A>T (p.Asn208Tyr) | |
| 3 | g.128486258T>C | CA354407245 | GATA2 | c.340A>G (p.Asn114Asp) c.622A>G (p.Asn208Asp) | ClinVar gnomAD v4 |
| 3 | g.128486258T>G | CA354407247 | GATA2 | c.340A>C (p.Asn114His) c.622A>C (p.Asn208His) | |
| 3 | g.128486258_128486261delinsTGTG | CA1400719480 | GATA2 | c.337_340delinsCACA (p.His113=) c.619_622delinsCACA (p.His207=) | |
| 3 | g.128486259G>A | CA435764059 | GATA2 | c.339C>T (p.His113=) c.621C>T (p.His207=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128486259G>C | CA354407249 | GATA2 | c.339C>G (p.His113Gln) c.621C>G (p.His207Gln) | |
| 3 | g.128486259G= | CA1400719481 | GATA2 | c.339C= (p.His113=) c.621C= (p.His207=) | |
| 3 | g.128486259G>T | CA354407251 | GATA2 | c.339C>A (p.His113Gln) c.621C>A (p.His207Gln) | |
| 3 | g.128486266_128486268dup | CA2580616525 | GATA2 | c.337_339dup (p.His113_Asn114insHis) c.619_621dup (p.His207_Asn208insHis) | ClinVar dbSNP |
| 3 | g.128486266_128486268del | CA2600039 | GATA2 | c.337_339del (p.His113del) c.619_621del (p.His207del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486260T>A | CA354407255 | GATA2 | c.338A>T (p.His113Leu) c.620A>T (p.His207Leu) | |
| 3 | g.128486260T>C | CA354407257 | GATA2 | c.338A>G (p.His113Arg) c.620A>G (p.His207Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486260T>G | CA354407259 | GATA2 | c.338A>C (p.His113Pro) c.620A>C (p.His207Pro) | |
| 3 | g.128486260T= | CA1400719482 | GATA2 | c.338A= (p.His113=) c.620A= (p.His207=) | |
| 3 | g.128486261G>A | CA354407263 | GATA2 | c.337C>T (p.His113Tyr) c.619C>T (p.His207Tyr) | |
| 3 | g.128486261G>C | CA354407265 | GATA2 | c.337C>G (p.His113Asp) c.619C>G (p.His207Asp) | |
| 3 | g.128486261G>T | CA354407266 | GATA2 | c.337C>A (p.His113Asn) c.619C>A (p.His207Asn) | |
| 3 | g.128486262G>A | CA435764063 | GATA2 | c.336C>T (p.His112=) c.618C>T (p.His206=) | |
| 3 | g.128486262G>C | CA354407269 | GATA2 | c.336C>G (p.His112Gln) c.618C>G (p.His206Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486262G= | CA1400719483 | GATA2 | c.336C= (p.His112=) c.618C= (p.His206=) | |
| 3 | g.128486262G>T | CA354407268 | GATA2 | c.336C>A (p.His112Gln) c.618C>A (p.His206Gln) | dbSNP |
| 3 | g.128486263T>A | CA354407272 | GATA2 | c.335A>T (p.His112Leu) c.617A>T (p.His206Leu) | |
| 3 | g.128486263T>C | CA354407275 | GATA2 | c.335A>G (p.His112Arg) c.617A>G (p.His206Arg) | ClinVar dbSNP |
| 3 | g.128486263T>G | CA354407278 | GATA2 | c.335A>C (p.His112Pro) c.617A>C (p.His206Pro) | |
| 3 | g.128486264G>A | CA354407279 | GATA2 | c.334C>T (p.His112Tyr) c.616C>T (p.His206Tyr) | |
| 3 | g.128486264G>C | CA354407282 | GATA2 | c.334C>G (p.His112Asp) c.616C>G (p.His206Asp) | ClinVar gnomAD v4 |
| 3 | g.128486264G>T | CA354407283 | GATA2 | c.334C>A (p.His112Asn) c.616C>A (p.His206Asn) | gnomAD v4 |
| 3 | g.128486265G>A | CA2600040 | GATA2 | c.333C>T (p.His111=) c.615C>T (p.His205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486265G>C | CA354407289 | GATA2 | c.333C>G (p.His111Gln) c.615C>G (p.His205Gln) | |
| 3 | g.128486265G= | CA1400719484 | GATA2 | c.333C= (p.His111=) c.615C= (p.His205=) | |
| 3 | g.128486265G>T | CA354407291 | GATA2 | c.333C>A (p.His111Gln) c.615C>A (p.His205Gln) | gnomAD v4 |
| 3 | g.128486266T>A | CA354407294 | GATA2 | c.332A>T (p.His111Leu) c.614A>T (p.His205Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486266T>C | CA354407296 | GATA2 | c.332A>G (p.His111Arg) c.614A>G (p.His205Arg) | |
| 3 | g.128486266T>G | CA354407298 | GATA2 | c.332A>C (p.His111Pro) c.614A>C (p.His205Pro) | dbSNP |
| 3 | g.128486266T= | CA1400719485 | GATA2 | c.332A= (p.His111=) c.614A= (p.His205=) |