| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128481115G>A | CA2599795 | GATA2 | c.1347C>T (p.Ser449=) c.1629C>T (p.Ser543=) c.322C>T (p.Arg108Trp) c.1305C>T (p.Ser435=) n.464C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481115G>C | CA435524432 | GATA2 | c.1347C>G (p.Ser449=) c.1629C>G (p.Ser543=) c.322C>G (p.Arg108Gly) c.1305C>G (p.Ser435=) n.464C>G | ClinVar |
| 3 | g.128481115G= | CA1400713937 | GATA2 | c.1347C= (p.Ser449=) c.1629C= (p.Ser543=) c.322C= (p.Arg108=) c.1305C= (p.Ser435=) n.464C= | |
| 3 | g.128481115G>T | CA2599794 | GATA2 | c.1347C>A (p.Ser449=) c.1629C>A (p.Ser543=) c.322C>A (p.Arg108=) c.1305C>A (p.Ser435=) n.464C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481116G>A | CA354412680 | GATA2 | c.1346C>T (p.Ser449Phe) c.1628C>T (p.Ser543Phe) c.321C>T (p.Leu107=) c.1304C>T (p.Ser435Phe) n.463C>T | |
| 3 | g.128481116G>C | CA354412683 | GATA2 | c.1346C>G (p.Ser449Cys) c.1628C>G (p.Ser543Cys) c.321C>G (p.Leu107=) c.1304C>G (p.Ser435Cys) n.463C>G | |
| 3 | g.128481116G>T | CA354412681 | GATA2 | c.1346C>A (p.Ser449Tyr) c.1628C>A (p.Ser543Tyr) c.321C>A (p.Leu107=) c.1304C>A (p.Ser435Tyr) n.463C>A | |
| 3 | g.128481117A>C | CA354412684 | GATA2 | c.1345T>G (p.Ser449Ala) c.1627T>G (p.Ser543Ala) c.320T>G (p.Leu107Arg) c.1303T>G (p.Ser435Ala) n.462T>G | |
| 3 | g.128481117A>G | CA354412686 | GATA2 | c.1345T>C (p.Ser449Pro) c.1627T>C (p.Ser543Pro) c.320T>C (p.Leu107Pro) c.1303T>C (p.Ser435Pro) n.462T>C | |
| 3 | g.128481117A>T | CA354412687 | GATA2 | c.1345T>A (p.Ser449Thr) c.1627T>A (p.Ser543Thr) c.320T>A (p.Leu107His) c.1303T>A (p.Ser435Thr) n.462T>A | |
| 3 | g.128481118G>A | CA435524438 | GATA2 | c.1344C>T (p.His448=) c.1626C>T (p.His542=) c.319C>T (p.Leu107Phe) c.1302C>T (p.His434=) n.461C>T | COSMIC |
| 3 | g.128481118G>C | CA354412689 | GATA2 | c.1344C>G (p.His448Gln) c.1626C>G (p.His542Gln) c.319C>G (p.Leu107Val) c.1302C>G (p.His434Gln) n.461C>G | |
| 3 | g.128481118G>T | CA354412690 | GATA2 | c.1344C>A (p.His448Gln) c.1626C>A (p.His542Gln) c.319C>A (p.Leu107Ile) c.1302C>A (p.His434Gln) n.461C>A | |
| 3 | g.128481119T>A | CA354412692 | GATA2 | c.1343A>T (p.His448Leu) c.1625A>T (p.His542Leu) c.318A>T (p.Pro106=) c.1301A>T (p.His434Leu) n.460A>T | |
| 3 | g.128481119T>C | CA354412693 | GATA2 | c.1343A>G (p.His448Arg) c.1625A>G (p.His542Arg) c.318A>G (p.Pro106=) c.1301A>G (p.His434Arg) n.460A>G | gnomAD v4 |
| 3 | g.128481119T>G | CA354412695 | GATA2 | c.1343A>C (p.His448Pro) c.1625A>C (p.His542Pro) c.318A>C (p.Pro106=) c.1301A>C (p.His434Pro) n.460A>C | |
| 3 | g.128481120G>A | CA354412697 | GATA2 | c.1342C>T (p.His448Tyr) c.1624C>T (p.His542Tyr) c.317C>T (p.Pro106Leu) c.1300C>T (p.His434Tyr) n.459C>T | gnomAD v4 |
| 3 | g.128481120G>C | CA354412699 | GATA2 | c.1342C>G (p.His448Asp) c.1624C>G (p.His542Asp) c.317C>G (p.Pro106Arg) c.1300C>G (p.His434Asp) n.459C>G | |
| 3 | g.128481120G>T | CA354412700 | GATA2 | c.1342C>A (p.His448Asn) c.1624C>A (p.His542Asn) c.317C>A (p.Pro106Gln) c.1300C>A (p.His434Asn) n.459C>A | |
| 3 | g.128481121del | CA2577890672 | GATA2 | c.1342del (p.His448ThrfsTer29) c.1624del (p.His542ThrfsTer29) c.317del (p.Pro106HisfsTer?) c.1300del (p.His434ThrfsTer29) n.459del | |
| 3 | g.128481121G>A | CA435524445 | GATA2 | c.1341C>T (p.Ser447=) c.1623C>T (p.Ser541=) c.316C>T (p.Pro106Ser) c.1299C>T (p.Ser433=) n.458C>T | ClinVar dbSNP |
| 3 | g.128481121G>C | CA354412702 | GATA2 | c.1341C>G (p.Ser447Arg) c.1623C>G (p.Ser541Arg) c.316C>G (p.Pro106Ala) c.1299C>G (p.Ser433Arg) n.458C>G | ClinVar |
| 3 | g.128481121G= | CA1400713944 | GATA2 | c.1341C= (p.Ser447=) c.1623C= (p.Ser541=) c.316C= (p.Pro106=) c.1299C= (p.Ser433=) n.458C= | |
| 3 | g.128481121G>T | CA354412703 | GATA2 | c.1341C>A (p.Ser447Arg) c.1623C>A (p.Ser541Arg) c.316C>A (p.Pro106Thr) c.1299C>A (p.Ser433Arg) n.458C>A | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481122C>A | CA2599796 | GATA2 | c.1340G>T (p.Ser447Ile) c.1622G>T (p.Ser541Ile) c.315G>T (p.Gln105His) c.1298G>T (p.Ser433Ile) n.457G>T | dbSNP ExAC gnomAD v4 |
| 3 | g.128481122C= | CA1400713948 | GATA2 | c.1340G= (p.Ser447=) c.1622G= (p.Ser541=) c.315G= (p.Gln105=) c.1298G= (p.Ser433=) n.457G= | |
| 3 | g.128481122C>G | CA354412707 | GATA2 | c.1340G>C (p.Ser447Thr) c.1622G>C (p.Ser541Thr) c.315G>C (p.Gln105His) c.1298G>C (p.Ser433Thr) n.457G>C | dbSNP |
| 3 | g.128481122C>T | CA354412706 | GATA2 | c.1340G>A (p.Ser447Asn) c.1622G>A (p.Ser541Asn) c.315G>A (p.Gln105=) c.1298G>A (p.Ser433Asn) n.457G>A | |
| 3 | g.128481123T>A | CA354412709 | GATA2 | c.1339A>T (p.Ser447Cys) c.1621A>T (p.Ser541Cys) c.314A>T (p.Gln105Leu) c.1297A>T (p.Ser433Cys) n.456A>T | |
| 3 | g.128481123T>C | CA354412710 | GATA2 | c.1339A>G (p.Ser447Gly) c.1621A>G (p.Ser541Gly) c.314A>G (p.Gln105Arg) c.1297A>G (p.Ser433Gly) n.456A>G | ClinVar |
| 3 | g.128481123T>G | CA354412712 | GATA2 | c.1339A>C (p.Ser447Arg) c.1621A>C (p.Ser541Arg) c.314A>C (p.Gln105Pro) c.1297A>C (p.Ser433Arg) n.456A>C | ClinVar dbSNP |
| 3 | g.128481123T= | CA1400713951 | GATA2 | c.1339A= (p.Ser447=) c.1621A= (p.Ser541=) c.314A= (p.Gln105=) c.1297A= (p.Ser433=) n.456A= | |
| 3 | g.128481124G>A | CA435524452 | GATA2 | c.1338C>T (p.Phe446=) c.1620C>T (p.Phe540=) c.313C>T (p.Gln105Ter) c.1296C>T (p.Phe432=) n.455C>T | dbSNP gnomAD v4 |
| 3 | g.128481124G>C | CA354412713 | GATA2 | c.1338C>G (p.Phe446Leu) c.1620C>G (p.Phe540Leu) c.313C>G (p.Gln105Glu) c.1296C>G (p.Phe432Leu) n.455C>G | |
| 3 | g.128481124G>T | CA354412715 | GATA2 | c.1338C>A (p.Phe446Leu) c.1620C>A (p.Phe540Leu) c.313C>A (p.Gln105Lys) c.1296C>A (p.Phe432Leu) n.455C>A | ClinVar |
| 3 | g.128481125A= | CA1400713955 | GATA2 | c.1337T= (p.Phe446=) c.1619T= (p.Phe540=) c.312T= (p.Leu104=) c.1295T= (p.Phe432=) n.454T= | |
| 3 | g.128481125A>C | CA354412720 | GATA2 | c.1337T>G (p.Phe446Cys) c.1619T>G (p.Phe540Cys) c.312T>G (p.Leu104=) c.1295T>G (p.Phe432Cys) n.454T>G | |
| 3 | g.128481125A>G | CA354412718 | GATA2 | c.1337T>C (p.Phe446Ser) c.1619T>C (p.Phe540Ser) c.312T>C (p.Leu104=) c.1295T>C (p.Phe432Ser) n.454T>C | |
| 3 | g.128481125A>T | CA354412716 | GATA2 | c.1337T>A (p.Phe446Tyr) c.1619T>A (p.Phe540Tyr) c.312T>A (p.Leu104=) c.1295T>A (p.Phe432Tyr) n.454T>A | ClinVar dbSNP |
| 3 | g.128481126A>C | CA354412721 | GATA2 | c.1336T>G (p.Phe446Val) c.1618T>G (p.Phe540Val) c.311T>G (p.Leu104Arg) c.1294T>G (p.Phe432Val) n.453T>G | |
| 3 | g.128481126A>G | CA354412722 | GATA2 | c.1336T>C (p.Phe446Leu) c.1618T>C (p.Phe540Leu) c.311T>C (p.Leu104Pro) c.1294T>C (p.Phe432Leu) n.453T>C | |
| 3 | g.128481126A>T | CA354412723 | GATA2 | c.1336T>A (p.Phe446Ile) c.1618T>A (p.Phe540Ile) c.311T>A (p.Leu104His) c.1294T>A (p.Phe432Ile) n.453T>A | |
| 3 | g.128481127G>A | CA435524458 | GATA2 | c.1335C>T (p.Pro445=) c.1617C>T (p.Pro539=) c.310C>T (p.Leu104Phe) c.1293C>T (p.Pro431=) n.452C>T | dbSNP gnomAD v4 |
| 3 | g.128481127G>C | CA435524459 | GATA2 | c.1335C>G (p.Pro445=) c.1617C>G (p.Pro539=) c.310C>G (p.Leu104Val) c.1293C>G (p.Pro431=) n.452C>G | |
| 3 | g.128481127G>T | CA435524461 | GATA2 | c.1335C>A (p.Pro445=) c.1617C>A (p.Pro539=) c.310C>A (p.Leu104Ile) c.1293C>A (p.Pro431=) n.452C>A | |
| 3 | g.128481128G>A | CA83376225 | GATA2 | c.1334C>T (p.Pro445Leu) c.1616C>T (p.Pro539Leu) c.309C>T (p.Ala103=) c.1292C>T (p.Pro431Leu) n.451C>T | ClinVar dbSNP |
| 3 | g.128481128G>C | CA354412724 | GATA2 | c.1334C>G (p.Pro445Arg) c.1616C>G (p.Pro539Arg) c.309C>G (p.Ala103=) c.1292C>G (p.Pro431Arg) n.451C>G | |
| 3 | g.128481128G= | CA1400713957 | GATA2 | c.1334C= (p.Pro445=) c.1616C= (p.Pro539=) c.309C= (p.Ala103=) c.1292C= (p.Pro431=) n.451C= | |
| 3 | g.128481128G>T | CA354412725 | GATA2 | c.1334C>A (p.Pro445His) c.1616C>A (p.Pro539His) c.309C>A (p.Ala103=) c.1292C>A (p.Pro431His) n.451C>A |