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.128486085G>A | CA435763717 | GATA2 | c.513C>T (p.Phe171=) c.795C>T (p.Phe265=) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.128486085G>C | CA354406609 | GATA2 | c.513C>G (p.Phe171Leu) c.795C>G (p.Phe265Leu) | |
3 | g.128486085G= | CA1400719383 | GATA2 | c.513C= (p.Phe171=) c.795C= (p.Phe265=) | |
3 | g.128486085G>T | CA354406610 | GATA2 | c.513C>A (p.Phe171Leu) c.795C>A (p.Phe265Leu) | |
3 | g.128486086A>C | CA354406613 | GATA2 | c.512T>G (p.Phe171Cys) c.794T>G (p.Phe265Cys) | |
3 | g.128486086A>G | CA354406612 | GATA2 | c.512T>C (p.Phe171Ser) c.794T>C (p.Phe265Ser) | |
3 | g.128486086A>T | CA354406611 | GATA2 | c.512T>A (p.Phe171Tyr) c.794T>A (p.Phe265Tyr) | ClinVar |
3 | g.128486089del | CA1139770898 | GATA2 | c.512del (p.Phe171SerfsTer?) c.794del (p.Phe265SerfsTer?) | |
3 | g.128486087A>C | CA354406616 | GATA2 | c.511T>G (p.Phe171Val) c.793T>G (p.Phe265Val) | |
3 | g.128486087A>G | CA354406614 | GATA2 | c.511T>C (p.Phe171Leu) c.793T>C (p.Phe265Leu) | |
3 | g.128486087A>T | CA354406615 | GATA2 | c.511T>A (p.Phe171Ile) c.793T>A (p.Phe265Ile) | |
3 | g.128486088A>C | CA435763720 | GATA2 | c.510T>G (p.Leu170=) c.792T>G (p.Leu264=) | ClinVar dbSNP |
3 | g.128486088A>G | CA435763721 | GATA2 | c.510T>C (p.Leu170=) c.792T>C (p.Leu264=) | |
3 | g.128486088A>T | CA435763722 | GATA2 | c.510T>A (p.Leu170=) c.792T>A (p.Leu264=) | |
3 | g.128486089A= | CA1400719384 | GATA2 | c.509T= (p.Leu170=) c.791T= (p.Leu264=) | |
3 | g.128486089A>C | CA354406617 | GATA2 | c.509T>G (p.Leu170Arg) c.791T>G (p.Leu264Arg) | |
3 | g.128486089A>G | CA354406618 | GATA2 | c.509T>C (p.Leu170Pro) c.791T>C (p.Leu264Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486089A>T | CA354406619 | GATA2 | c.509T>A (p.Leu170His) c.791T>A (p.Leu264His) | |
3 | g.128486090G>A | CA354406620 | GATA2 | c.508C>T (p.Leu170Phe) c.790C>T (p.Leu264Phe) | |
3 | g.128486090G>C | CA354406621 | GATA2 | c.508C>G (p.Leu170Val) c.790C>G (p.Leu264Val) | |
3 | g.128486090G= | CA1400719385 | GATA2 | c.508C= (p.Leu170=) c.790C= (p.Leu264=) | |
3 | g.128486090G>T | CA354406622 | GATA2 | c.508C>A (p.Leu170Ile) c.790C>A (p.Leu264Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.128486091G>A | CA435763724 | GATA2 | c.507C>T (p.His169=) c.789C>T (p.His263=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486091G>C | CA354406623 | GATA2 | c.507C>G (p.His169Gln) c.789C>G (p.His263Gln) | |
3 | g.128486091G= | CA1400719386 | GATA2 | c.507C= (p.His169=) c.789C= (p.His263=) | |
3 | g.128486091G>T | CA354406624 | GATA2 | c.507C>A (p.His169Gln) c.789C>A (p.His263Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486092T>A | CA354406625 | GATA2 | c.506A>T (p.His169Leu) c.788A>T (p.His263Leu) | |
3 | g.128486092T>C | CA354406626 | GATA2 | c.506A>G (p.His169Arg) c.788A>G (p.His263Arg) | |
3 | g.128486092T>G | CA354406627 | GATA2 | c.506A>C (p.His169Pro) c.788A>C (p.His263Pro) | dbSNP |
3 | g.128486093G>A | CA354406629 | GATA2 | c.505C>T (p.His169Tyr) c.787C>T (p.His263Tyr) | |
3 | g.128486093G>C | CA354406630 | GATA2 | c.505C>G (p.His169Asp) c.787C>G (p.His263Asp) | |
3 | g.128486093G>T | CA354406628 | GATA2 | c.505C>A (p.His169Asn) c.787C>A (p.His263Asn) | |
3 | g.128486094G>A | CA435763730 | GATA2 | c.504C>T (p.Ser168=) c.786C>T (p.Ser262=) | ClinVar dbSNP |
3 | g.128486094G>C | CA435763731 | GATA2 | c.504C>G (p.Ser168=) c.786C>G (p.Ser262=) | gnomAD v4 |
3 | g.128486094G= | CA1400719387 | GATA2 | c.504C= (p.Ser168=) c.786C= (p.Ser262=) | |
3 | g.128486094G>T | CA435763734 | GATA2 | c.504C>A (p.Ser168=) c.786C>A (p.Ser262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486095G>A | CA2600015 | GATA2 | c.503C>T (p.Ser168Phe) c.785C>T (p.Ser262Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486095G>C | CA354406631 | GATA2 | c.503C>G (p.Ser168Cys) c.785C>G (p.Ser262Cys) | |
3 | g.128486095G= | CA1400719388 | GATA2 | c.503C= (p.Ser168=) c.785C= (p.Ser262=) | |
3 | g.128486095G>T | CA354406632 | GATA2 | c.503C>A (p.Ser168Tyr) c.785C>A (p.Ser262Tyr) | |
3 | g.128486096A= | CA1400719389 | GATA2 | c.502T= (p.Ser168=) c.784T= (p.Ser262=) | |
3 | g.128486096A>C | CA83371955 | GATA2 | c.502T>G (p.Ser168Ala) c.784T>G (p.Ser262Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486096A>G | CA354406633 | GATA2 | c.502T>C (p.Ser168Pro) c.784T>C (p.Ser262Pro) | |
3 | g.128486096A>T | CA354406634 | GATA2 | c.502T>A (p.Ser168Thr) c.784T>A (p.Ser262Thr) | |
3 | g.128486097G>A | CA2600016 | GATA2 | c.501C>T (p.Gly167=) c.783C>T (p.Gly261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486097G>C | CA435763764 | GATA2 | c.501C>G (p.Gly167=) c.783C>G (p.Gly261=) | |
3 | g.128486097G= | CA1400719390 | GATA2 | c.501C= (p.Gly167=) c.783C= (p.Gly261=) | |
3 | g.128486097G>T | CA435763767 | GATA2 | c.501C>A (p.Gly167=) c.783C>A (p.Gly261=) |