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.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=) | |
3 | g.128486098C>A | CA354406635 | GATA2 | c.500G>T (p.Gly167Val) c.782G>T (p.Gly261Val) | |
3 | g.128486098C>G | CA354406636 | GATA2 | c.500G>C (p.Gly167Ala) c.782G>C (p.Gly261Ala) | |
3 | g.128486098C>T | CA354406637 | GATA2 | c.500G>A (p.Gly167Asp) c.782G>A (p.Gly261Asp) | |
3 | g.128486099C>A | CA354406638 | GATA2 | c.499G>T (p.Gly167Cys) c.781G>T (p.Gly261Cys) | |
3 | g.128486099C>G | CA354406639 | GATA2 | c.499G>C (p.Gly167Arg) c.781G>C (p.Gly261Arg) | gnomAD v4 |
3 | g.128486099C>T | CA354406640 | GATA2 | c.499G>A (p.Gly167Ser) c.781G>A (p.Gly261Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486100A= | CA1400719391 | GATA2 | c.498T= (p.Ser166=) c.780T= (p.Ser260=) | |
3 | g.128486100A>C | CA435763770 | GATA2 | c.498T>G (p.Ser166=) c.780T>G (p.Ser260=) | |
3 | g.128486100A>G | CA2600017 | GATA2 | c.498T>C (p.Ser166=) c.780T>C (p.Ser260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486100A>T | CA435763774 | GATA2 | c.498T>A (p.Ser166=) c.780T>A (p.Ser260=) | |
3 | g.128486101G>A | CA354406642 | GATA2 | c.497C>T (p.Ser166Phe) c.779C>T (p.Ser260Phe) | |
3 | g.128486101G>C | CA2600018 | GATA2 | c.497C>G (p.Ser166Cys) c.779C>G (p.Ser260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.128486101G= | CA1400719392 | GATA2 | c.497C= (p.Ser166=) c.779C= (p.Ser260=) | |
3 | g.128486101G>T | CA354406641 | GATA2 | c.497C>A (p.Ser166Tyr) c.779C>A (p.Ser260Tyr) | |
3 | g.128486102A>C | CA354406643 | GATA2 | c.496T>G (p.Ser166Ala) c.778T>G (p.Ser260Ala) | |
3 | g.128486102A>G | CA354406645 | GATA2 | c.496T>C (p.Ser166Pro) c.778T>C (p.Ser260Pro) | |
3 | g.128486102A>T | CA354406644 | GATA2 | c.496T>A (p.Ser166Thr) c.778T>A (p.Ser260Thr) | |
3 | g.128486103G>A | CA83371971 | GATA2 | c.495C>T (p.His165=) c.777C>T (p.His259=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486103G>C | CA354406646 | GATA2 | c.495C>G (p.His165Gln) c.777C>G (p.His259Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486103G= | CA1400719393 | GATA2 | c.495C= (p.His165=) c.777C= (p.His259=) | |
3 | g.128486103G>T | CA354406647 | GATA2 | c.495C>A (p.His165Gln) c.777C>A (p.His259Gln) | ClinVar dbSNP |
3 | g.128486104T>A | CA354406648 | GATA2 | c.494A>T (p.His165Leu) c.776A>T (p.His259Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.128486104T>C | CA354406649 | GATA2 | c.494A>G (p.His165Arg) c.776A>G (p.His259Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486104T>G | CA354406650 | GATA2 | c.494A>C (p.His165Pro) c.776A>C (p.His259Pro) | |
3 | g.128486104T= | CA1400719394 | GATA2 | c.494A= (p.His165=) c.776A= (p.His259=) | |
3 | g.128486105G>A | CA354406651 | GATA2 | c.493C>T (p.His165Tyr) c.775C>T (p.His259Tyr) | ClinVar gnomAD v4 |