| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481845_128484000dup | CA2695239090 | GATA2 | c.877_1117dup c.1159_1399dup c.877_1075dup | |
| 3 | g.128483828G>A | CA83370750 | GATA2 | c.1017+32C>T (n.1017+32C>T) c.1299+32C>T (n.1299+32C>T) | dbSNP |
| 3 | g.128483828G= | CA1400717318 | GATA2 | c.1017+32C= (n.1017+32C=) c.1299+32C= (n.1299+32C=) | |
| 3 | g.128483828G>T | CA898649408 | GATA2 | c.1017+32C>A (n.1017+32C>A) c.1299+32C>A (n.1299+32C>A) | dbSNP |
| 3 | g.128483829C>A | CA2599902 | GATA2 | c.1017+31G>T (n.1017+31G>T) c.1299+31G>T (n.1299+31G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483829C= | CA1400717320 | GATA2 | c.1017+31G= (n.1017+31G=) c.1299+31G= (n.1299+31G=) | |
| 3 | g.128483829C>T | CA2667540809 | GATA2 | c.1017+31G>A (n.1017+31G>A) c.1299+31G>A (n.1299+31G>A) | gnomAD v4 |
| 3 | g.128483833dup | CA2758339197 | GATA2 | c.1017+31dup (n.1017+31dup) c.1299+31dup (n.1299+31dup) | |
| 3 | g.128483831C>G | CA2577890732 | GATA2 | c.1017+29G>C (n.1017+29G>C) c.1299+29G>C (n.1299+29G>C) | gnomAD v4 |
| 3 | g.128483832C>A | CA898649409 | GATA2 | c.1017+28G>T (n.1017+28G>T) c.1299+28G>T (n.1299+28G>T) | dbSNP |
| 3 | g.128483832C= | CA1400717322 | GATA2 | c.1017+28G= (n.1017+28G=) c.1299+28G= (n.1299+28G=) | |
| 3 | g.128483833C>A | CA2667540810 | GATA2 | c.1017+27G>T (n.1017+27G>T) c.1299+27G>T (n.1299+27G>T) | gnomAD v4 |
| 3 | g.128483833C>T | CA2667540811 | GATA2 | c.1017+27G>A (n.1017+27G>A) c.1299+27G>A (n.1299+27G>A) | gnomAD v4 |
| 3 | g.128483834T>C | CA2577890733 | GATA2 | c.1017+26A>G (n.1017+26A>G) c.1299+26A>G (n.1299+26A>G) | |
| 3 | g.128483835C>T | CA2667540812 | GATA2 | c.1017+25G>A (n.1017+25G>A) c.1299+25G>A (n.1299+25G>A) | gnomAD v4 |
| 3 | g.128483836C= | CA1400717324 | GATA2 | c.1017+24G= (n.1017+24G=) c.1299+24G= (n.1299+24G=) | |
| 3 | g.128483836C>T | CA1400717325 | GATA2 | c.1017+24G>A (n.1017+24G>A) c.1299+24G>A (n.1299+24G>A) | dbSNP gnomAD v4 |
| 3 | g.128483838A= | CA1400717327 | GATA2 | c.1017+22T= (n.1017+22T=) c.1299+22T= (n.1299+22T=) | |
| 3 | g.128483838A>G | CA2599903 | GATA2 | c.1017+22T>C (n.1017+22T>C) c.1299+22T>C (n.1299+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483839G>T | CA2667540813 | GATA2 | c.1017+21C>A (n.1017+21C>A) c.1299+21C>A (n.1299+21C>A) | gnomAD v4 |
| 3 | g.128483840C>A | CA2599905 | GATA2 | c.1017+20G>T (n.1017+20G>T) c.1299+20G>T (n.1299+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483840C= | CA1400717329 | GATA2 | c.1017+20G= (n.1017+20G=) c.1299+20G= (n.1299+20G=) | |
| 3 | g.128483840C>T | CA2599904 | GATA2 | c.1017+20G>A (n.1017+20G>A) c.1299+20G>A (n.1299+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483842A= | CA1400717333 | GATA2 | c.1017+18T= (n.1017+18T=) c.1299+18T= (n.1299+18T=) | |
| 3 | g.128483842A>C | CA1400717334 | GATA2 | c.1017+18T>G (n.1017+18T>G) c.1299+18T>G (n.1299+18T>G) | dbSNP |
| 3 | g.128483842A>G | CA2667540814 | GATA2 | c.1017+18T>C (n.1017+18T>C) c.1299+18T>C (n.1299+18T>C) | gnomAD v4 |
| 3 | g.128483844C= | CA1400717335 | GATA2 | c.1017+16G= (n.1017+16G=) c.1299+16G= (n.1299+16G=) | |
| 3 | g.128483844C>G | CA546098142 | GATA2 | c.1017+16G>C (n.1017+16G>C) c.1299+16G>C (n.1299+16G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483845T>C | CA1400717338 | GATA2 | c.1017+15A>G (n.1017+15A>G) c.1299+15A>G (n.1299+15A>G) | dbSNP |
| 3 | g.128483845T= | CA1400717337 | GATA2 | c.1017+15A= (n.1017+15A=) c.1299+15A= (n.1299+15A=) | |
| 3 | g.128483846G>A | CA2599906 | GATA2 | c.1017+14C>T (n.1017+14C>T) c.1299+14C>T (n.1299+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483846G= | CA1400717340 | GATA2 | c.1017+14C= (n.1017+14C=) c.1299+14C= (n.1299+14C=) | |
| 3 | g.128483848G>C | CA2667540815 | GATA2 | c.1017+12C>G (n.1017+12C>G) c.1299+12C>G (n.1299+12C>G) | gnomAD v4 |
| 3 | g.128483849C= | CA1400717344 | GATA2 | c.1017+11G= (n.1017+11G=) c.1299+11G= (n.1299+11G=) | |
| 3 | g.128483849C>T | CA2599907 | GATA2 | c.1017+11G>A (n.1017+11G>A) c.1299+11G>A (n.1299+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483851del | CA2577890734 | GATA2 | c.1017+11del (n.1017+11del) c.1299+11del (n.1299+11del) | |
| 3 | g.128483851C>A | CA1400717347 | GATA2 | c.1017+9G>T (n.1017+9G>T) c.1299+9G>T (n.1299+9G>T) | dbSNP |
| 3 | g.128483851C= | CA1400717346 | GATA2 | c.1017+9G= (n.1017+9G=) c.1299+9G= (n.1299+9G=) | |
| 3 | g.128483851C>G | CA915941560 | GATA2 | c.1017+9G>C (n.1017+9G>C) c.1299+9G>C (n.1299+9G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128483851C>T | CA83370764 | GATA2 | c.1017+9G>A (n.1017+9G>A) c.1299+9G>A (n.1299+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483852G>A | CA2599908 | GATA2 | c.1017+8C>T (n.1017+8C>T) c.1299+8C>T (n.1299+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483852G>C | CA2577890735 | GATA2 | c.1017+8C>G (n.1017+8C>G) c.1299+8C>G (n.1299+8C>G) | ClinVar |
| 3 | g.128483852G= | CA1400717352 | GATA2 | c.1017+8C= (n.1017+8C=) c.1299+8C= (n.1299+8C=) | |
| 3 | g.128483852G>T | CA1400717354 | GATA2 | c.1017+8C>A (n.1017+8C>A) c.1299+8C>A (n.1299+8C>A) | dbSNP gnomAD v4 |
| 3 | g.128483857T>C | CA546098143 | GATA2 | c.1017+3A>G (n.1017+3A>G) c.1299+3A>G (n.1299+3A>G) | dbSNP gnomAD v2 |
| 3 | g.128483857T= | CA1400717356 | GATA2 | c.1017+3A= (n.1017+3A=) c.1299+3A= (n.1299+3A=) | |
| 3 | g.128483858A= | CA1400717359 | GATA2 | c.1017+2T= (n.1017+2T=) c.1299+2T= (n.1299+2T=) | |
| 3 | g.128483858A>C | CA354404216 | GATA2 | c.1017+2T>G (n.1017+2T>G) c.1299+2T>G (n.1299+2T>G) | ClinVar dbSNP |
| 3 | g.128483858A>G | CA354404218 | GATA2 | c.1017+2T>C (n.1017+2T>C) c.1299+2T>C (n.1299+2T>C) | ClinVar dbSNP |
| 3 | g.128483858A>T | CA354404217 | GATA2 | c.1017+2T>A (n.1017+2T>A) c.1299+2T>A (n.1299+2T>A) | ClinVar dbSNP |
| 3 | g.128483859C>A | CA354404219 | GATA2 | c.1017+1G>T (n.1017+1G>T) c.1299+1G>T (n.1299+1G>T) | |
| 3 | g.128483859C>G | CA354404221 | GATA2 | c.1017+1G>C (n.1017+1G>C) c.1299+1G>C (n.1299+1G>C) | |
| 3 | g.128483859C>T | CA354404220 | GATA2 | c.1017+1G>A (n.1017+1G>A) c.1299+1G>A (n.1299+1G>A) | |
| 3 | g.128483860del | CA2499216457 | GATA2 | c.1017+1del c.1299+1del | ClinVar dbSNP |
| 3 | g.128483860C>A | CA83370772 | GATA2 | c.1017G>T (p.Leu339=) c.1299G>T (p.Leu433=) | dbSNP |
| 3 | g.128483860C= | CA1400717364 | GATA2 | c.1017G= (p.Leu339=) c.1299G= (p.Leu433=) | |
| 3 | g.128483860C>G | CA435509954 | GATA2 | c.1017G>C (p.Leu339=) c.1299G>C (p.Leu433=) | |
| 3 | g.128483860C>T | CA435509955 | GATA2 | c.1017G>A (p.Leu339=) c.1299G>A (p.Leu433=) | |
| 3 | g.128483861A>C | CA354404223 | GATA2 | c.1016T>G (p.Leu339Arg) c.1298T>G (p.Leu433Arg) | |
| 3 | g.128483861A>G | CA354404225 | GATA2 | c.1016T>C (p.Leu339Pro) c.1298T>C (p.Leu433Pro) | ClinVar |
| 3 | g.128483861A>T | CA354404226 | GATA2 | c.1016T>A (p.Leu339Gln) c.1298T>A (p.Leu433Gln) | COSMIC |
| 3 | g.128483862G>A | CA435509956 | GATA2 | c.1015C>T (p.Leu339=) c.1297C>T (p.Leu433=) | ClinVar dbSNP |
| 3 | g.128483862G>C | CA354404227 | GATA2 | c.1015C>G (p.Leu339Val) c.1297C>G (p.Leu433Val) | |
| 3 | g.128483862G>T | CA354404228 | GATA2 | c.1015C>A (p.Leu339Met) c.1297C>A (p.Leu433Met) | |
| 3 | g.128483863T>A | CA354404229 | GATA2 | c.1014A>T (p.Arg338Ser) c.1296A>T (p.Arg432Ser) | |
| 3 | g.128483863T>C | CA435509957 | GATA2 | c.1014A>G (p.Arg338=) c.1296A>G (p.Arg432=) | |
| 3 | g.128483863T>G | CA354404230 | GATA2 | c.1014A>C (p.Arg338Ser) c.1296A>C (p.Arg432Ser) | |
| 3 | g.128483864C>A | CA354404232 | GATA2 | c.1013G>T (p.Arg338Ile) c.1295G>T (p.Arg432Ile) | |
| 3 | g.128483864C>G | CA354404235 | GATA2 | c.1013G>C (p.Arg338Thr) c.1295G>C (p.Arg432Thr) | |
| 3 | g.128483864C>T | CA354404236 | GATA2 | c.1013G>A (p.Arg338Lys) c.1295G>A (p.Arg432Lys) | |
| 3 | g.128483868_128483869insGGCCCTTCG | CA2581931359 | GATA2 | c.1013_1014insGGCCCGAAG (p.Arg338_Leu339insAlaArgArg) c.1295_1296insGGCCCGAAG (p.Arg432_Leu433insAlaArgArg) | |
| 3 | g.128483865T>A | CA354404238 | GATA2 | c.1012A>T (p.Arg338Ter) c.1294A>T (p.Arg432Ter) | COSMIC |
| 3 | g.128483865T>C | CA354404240 | GATA2 | c.1012A>G (p.Arg338Gly) c.1294A>G (p.Arg432Gly) | |
| 3 | g.128483865T>G | CA435509958 | GATA2 | c.1012A>C (p.Arg338=) c.1294A>C (p.Arg432=) | |
| 3 | g.128483868_128483869insACTTCTTGTTCG | CA2695202471 | GATA2 | c.1012_1013insCAAGAAGTCGAA (p.Arg337_Arg338insThrArgSerArg) c.1294_1295insCAAGAAGTCGAA (p.Arg431_Arg432insThrArgSerArg) | |
| 3 | g.128483866T>A | CA435509959 | GATA2 | c.1011A>T (p.Arg337=) c.1293A>T (p.Arg431=) | |
| 3 | g.128483866T>C | CA435509960 | GATA2 | c.1011A>G (p.Arg337=) c.1293A>G (p.Arg431=) | |
| 3 | g.128483866T>G | CA435509961 | GATA2 | c.1011A>C (p.Arg337=) c.1293A>C (p.Arg431=) | |
| 3 | g.128483866_128483867insTAAGGCCC | CA2580617760 | GATA2 | c.1010_1011insGGGCCTTA (p.Arg338GlyfsTer?) c.1292_1293insGGGCCTTA (p.Arg432GlyfsTer?) c.1010_1011insGGGCCTTA (p.Arg338GlyfsTer5) | |
| 3 | g.128483867C>A | CA354404246 | GATA2 | c.1010G>T (p.Arg337Leu) c.1292G>T (p.Arg431Leu) | |
| 3 | g.128483867C= | CA1400717367 | GATA2 | c.1010G= (p.Arg337=) c.1292G= (p.Arg431=) | |
| 3 | g.128483867C>G | CA354404245 | GATA2 | c.1010G>C (p.Arg337Pro) c.1292G>C (p.Arg431Pro) | |
| 3 | g.128483867C>T | CA354404243 | GATA2 | c.1010G>A (p.Arg337Gln) c.1292G>A (p.Arg431Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128483868G>A | CA128584 | GATA2 | c.1009C>T (p.Arg337Ter) c.1291C>T (p.Arg431Ter) | ClinVar dbSNP COSMIC |
| 3 | g.128483868G>C | CA354404247 | GATA2 | c.1009C>G (p.Arg337Gly) c.1291C>G (p.Arg431Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128483868G= | CA1400717372 | GATA2 | c.1009C= (p.Arg337=) c.1291C= (p.Arg431=) | |
| 3 | g.128483868G>T | CA435509962 | GATA2 | c.1009C>A (p.Arg337=) c.1291C>A (p.Arg431=) | ClinVar gnomAD v4 |
| 3 | g.128483870_128483896dup | CA2581934948 | GATA2 | c.983_1009dup (p.Lys336_Arg337insGlnAsnArgProLeuIleLysProLys) c.1265_1291dup (p.Lys430_Arg431insGlnAsnArgProLeuIleLysProLys) | |
| 3 | g.128483869del | CA2586965880 | GATA2 | c.1008del (p.Lys336AsnfsTer?) c.1290del (p.Lys430AsnfsTer?) c.1008del (p.Lys336AsnfsTer4) | |
| 3 | g.128483869C>A | CA354404248 | GATA2 | c.1008G>T (p.Lys336Asn) c.1290G>T (p.Lys430Asn) | |
| 3 | g.128483869C>G | CA354404249 | GATA2 | c.1008G>C (p.Lys336Asn) c.1290G>C (p.Lys430Asn) | |
| 3 | g.128483869C>T | CA435509963 | GATA2 | c.1008G>A (p.Lys336=) c.1290G>A (p.Lys430=) | ClinVar dbSNP |
| 3 | g.128483870T>A | CA354404250 | GATA2 | c.1007A>T (p.Lys336Met) c.1289A>T (p.Lys430Met) | ClinVar |
| 3 | g.128483870T>C | CA354404251 | GATA2 | c.1007A>G (p.Lys336Arg) c.1289A>G (p.Lys430Arg) | |
| 3 | g.128483870T>G | CA354404252 | GATA2 | c.1007A>C (p.Lys336Thr) c.1289A>C (p.Lys430Thr) | |
| 3 | g.128483871T>A | CA354404253 | GATA2 | c.1006A>T (p.Lys336Ter) c.1288A>T (p.Lys430Ter) | |
| 3 | g.128483871T>C | CA354404254 | GATA2 | c.1006A>G (p.Lys336Glu) c.1288A>G (p.Lys430Glu) | ClinVar dbSNP |
| 3 | g.128483871T>G | CA354404255 | GATA2 | c.1006A>C (p.Lys336Gln) c.1288A>C (p.Lys430Gln) | |
| 3 | g.128483871T= | CA1400717378 | GATA2 | c.1006A= (p.Lys336=) c.1288A= (p.Lys430=) | |
| 3 | g.128483872G>A | CA435509964 | GATA2 | c.1005C>T (p.Pro335=) c.1287C>T (p.Pro429=) | |
| 3 | g.128483872G>C | CA435509965 | GATA2 | c.1005C>G (p.Pro335=) c.1287C>G (p.Pro429=) | |
| 3 | g.128483872G>T | CA435509966 | GATA2 | c.1005C>A (p.Pro335=) c.1287C>A (p.Pro429=) | |
| 3 | g.128483873G>A | CA354404256 | GATA2 | c.1004C>T (p.Pro335Leu) c.1286C>T (p.Pro429Leu) | |
| 3 | g.128483873G>C | CA354404257 | GATA2 | c.1004C>G (p.Pro335Arg) c.1286C>G (p.Pro429Arg) | |
| 3 | g.128483873G>T | CA354404258 | GATA2 | c.1004C>A (p.Pro335His) c.1286C>A (p.Pro429His) | |
| 3 | g.128483874G>A | CA354404263 | GATA2 | c.1003C>T (p.Pro335Ser) c.1285C>T (p.Pro429Ser) | ClinVar |
| 3 | g.128483874G>C | CA354404265 | GATA2 | c.1003C>G (p.Pro335Ala) c.1285C>G (p.Pro429Ala) | |
| 3 | g.128483874G>T | CA354404261 | GATA2 | c.1003C>A (p.Pro335Thr) c.1285C>A (p.Pro429Thr) | |
| 3 | g.128483875C>A | CA354404267 | GATA2 | c.1002G>T (p.Lys334Asn) c.1284G>T (p.Lys428Asn) | gnomAD v4 |
| 3 | g.128483875C>G | CA354404269 | GATA2 | c.1002G>C (p.Lys334Asn) c.1284G>C (p.Lys428Asn) | |
| 3 | g.128483875C>T | CA435509967 | GATA2 | c.1002G>A (p.Lys334=) c.1284G>A (p.Lys428=) | gnomAD v4 |
| 3 | g.128483876T>A | CA354404272 | GATA2 | c.1001A>T (p.Lys334Met) c.1283A>T (p.Lys428Met) | |
| 3 | g.128483876T>C | CA354404274 | GATA2 | c.1001A>G (p.Lys334Arg) c.1283A>G (p.Lys428Arg) | |
| 3 | g.128483876T>G | CA354404281 | GATA2 | c.1001A>C (p.Lys334Thr) c.1283A>C (p.Lys428Thr) | |
| 3 | g.128483877T>A | CA354404282 | GATA2 | c.1000A>T (p.Lys334Ter) c.1282A>T (p.Lys428Ter) | |
| 3 | g.128483877T>C | CA354404284 | GATA2 | c.1000A>G (p.Lys334Glu) c.1282A>G (p.Lys428Glu) | |
| 3 | g.128483877T>G | CA354404286 | GATA2 | c.1000A>C (p.Lys334Gln) c.1282A>C (p.Lys428Gln) | gnomAD v4 |
| 3 | g.128483878G>A | CA83370777 | GATA2 | c.999C>T (p.Ile333=) c.1281C>T (p.Ile427=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483878G>C | CA354404288 | GATA2 | c.999C>G (p.Ile333Met) c.1281C>G (p.Ile427Met) | |
| 3 | g.128483878G= | CA1400717385 | GATA2 | c.999C= (p.Ile333=) c.1281C= (p.Ile427=) | |
| 3 | g.128483878G>T | CA435509968 | GATA2 | c.999C>A (p.Ile333=) c.1281C>A (p.Ile427=) | ClinVar |
| 3 | g.128483879A>C | CA354404291 | GATA2 | c.998T>G (p.Ile333Ser) c.1280T>G (p.Ile427Ser) | |
| 3 | g.128483879A>G | CA354404293 | GATA2 | c.998T>C (p.Ile333Thr) c.1280T>C (p.Ile427Thr) | |
| 3 | g.128483879A>T | CA354404296 | GATA2 | c.998T>A (p.Ile333Asn) c.1280T>A (p.Ile427Asn) | |
| 3 | g.128483880T>A | CA354404302 | GATA2 | c.997A>T (p.Ile333Phe) c.1279A>T (p.Ile427Phe) | |
| 3 | g.128483880T>C | CA354404299 | GATA2 | c.997A>G (p.Ile333Val) c.1279A>G (p.Ile427Val) | ClinVar dbSNP |
| 3 | g.128483880T>G | CA354404300 | GATA2 | c.997A>C (p.Ile333Leu) c.1279A>C (p.Ile427Leu) | |
| 3 | g.128483881G>A | CA2599909 | GATA2 | c.996C>T (p.Leu332=) c.1278C>T (p.Leu426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483881G>C | CA435509969 | GATA2 | c.996C>G (p.Leu332=) c.1278C>G (p.Leu426=) | gnomAD v4 |
| 3 | g.128483881G= | CA1400717391 | GATA2 | c.996C= (p.Leu332=) c.1278C= (p.Leu426=) | |
| 3 | g.128483881G>T | CA435509970 | GATA2 | c.996C>A (p.Leu332=) c.1278C>A (p.Leu426=) | ClinVar |
| 3 | g.128483881_128483882insC | CA2573052069 | GATA2 | c.995_996insG (p.Ile333HisfsTer?) c.1277_1278insG (p.Ile427HisfsTer?) | ClinVar dbSNP |
| 3 | g.128483882A>C | CA354404306 | GATA2 | c.995T>G (p.Leu332Arg) c.1277T>G (p.Leu426Arg) | |
| 3 | g.128483882A>G | CA354404309 | GATA2 | c.995T>C (p.Leu332Pro) c.1277T>C (p.Leu426Pro) | ClinVar |
| 3 | g.128483882A>T | CA354404313 | GATA2 | c.995T>A (p.Leu332His) c.1277T>A (p.Leu426His) | |
| 3 | g.128483883G>A | CA354404315 | GATA2 | c.994C>T (p.Leu332Phe) c.1276C>T (p.Leu426Phe) | |
| 3 | g.128483883G>C | CA354404317 | GATA2 | c.994C>G (p.Leu332Val) c.1276C>G (p.Leu426Val) | |
| 3 | g.128483883G>T | CA354404319 | GATA2 | c.994C>A (p.Leu332Ile) c.1276C>A (p.Leu426Ile) | |
| 3 | g.128483888_128483912dup | CA2499216458 | GATA2 | c.970_994dup (p.Leu332GlnfsTer?) c.1252_1276dup (p.Leu426GlnfsTer?) | ClinVar dbSNP |
| 3 | g.128483884T>A | CA435509971 | GATA2 | c.993A>T (p.Pro331=) c.1275A>T (p.Pro425=) | |
| 3 | g.128483884T>C | CA435509972 | GATA2 | c.993A>G (p.Pro331=) c.1275A>G (p.Pro425=) | ClinVar |
| 3 | g.128483884T>G | CA435509973 | GATA2 | c.993A>C (p.Pro331=) c.1275A>C (p.Pro425=) | |
| 3 | g.128483885G>A | CA354404322 | GATA2 | c.992C>T (p.Pro331Leu) c.1274C>T (p.Pro425Leu) | |
| 3 | g.128483885G>C | CA354404323 | GATA2 | c.992C>G (p.Pro331Arg) c.1274C>G (p.Pro425Arg) | |
| 3 | g.128483885G>T | CA354404324 | GATA2 | c.992C>A (p.Pro331Gln) c.1274C>A (p.Pro425Gln) | |
| 3 | g.128483888_128483891dup | CA658820610 | GATA2 | c.989_992dup (p.Leu332ThrfsTer?) c.1271_1274dup (p.Leu426ThrfsTer?) | ClinVar dbSNP |
| 3 | g.128483886G>A | CA354404330 | GATA2 | c.991C>T (p.Pro331Ser) c.1273C>T (p.Pro425Ser) | |
| 3 | g.128483886G>C | CA354404328 | GATA2 | c.991C>G (p.Pro331Ala) c.1273C>G (p.Pro425Ala) | |
| 3 | g.128483886G>T | CA354404326 | GATA2 | c.991C>A (p.Pro331Thr) c.1273C>A (p.Pro425Thr) | |
| 3 | g.128483887T>A | CA435509974 | GATA2 | c.990A>T (p.Arg330=) c.1272A>T (p.Arg424=) | |
| 3 | g.128483887T>C | CA435509975 | GATA2 | c.990A>G (p.Arg330=) c.1272A>G (p.Arg424=) | dbSNP |
| 3 | g.128483887T>G | CA435509976 | GATA2 | c.990A>C (p.Arg330=) c.1272A>C (p.Arg424=) | |
| 3 | g.128483888C>A | CA354404332 | GATA2 | c.989G>T (p.Arg330Leu) c.1271G>T (p.Arg424Leu) | ClinVar dbSNP COSMIC |
| 3 | g.128483888C>G | CA354404341 | GATA2 | c.989G>C (p.Arg330Pro) c.1271G>C (p.Arg424Pro) | |
| 3 | g.128483888C>T | CA354404339 | GATA2 | c.989G>A (p.Arg330Gln) c.1271G>A (p.Arg424Gln) | ClinVar COSMIC |
| 3 | g.128483889G>A | CA354404344 | GATA2 | c.988C>T (p.Arg330Ter) c.1270C>T (p.Arg424Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128483889G>C | CA354404346 | GATA2 | c.988C>G (p.Arg330Gly) c.1270C>G (p.Arg424Gly) | |
| 3 | g.128483889G= | CA1400717398 | GATA2 | c.988C= (p.Arg330=) c.1270C= (p.Arg424=) | |
| 3 | g.128483889G>T | CA435509977 | GATA2 | c.988C>A (p.Arg330=) c.1270C>A (p.Arg424=) | |
| 3 | g.128483890G>A | CA435509978 | GATA2 | c.987C>T (p.Asn329=) c.1269C>T (p.Asn423=) | |
| 3 | g.128483890G>C | CA354404348 | GATA2 | c.987C>G (p.Asn329Lys) c.1269C>G (p.Asn423Lys) | |
| 3 | g.128483890G>T | CA354404350 | GATA2 | c.987C>A (p.Asn329Lys) c.1269C>A (p.Asn423Lys) | |
| 3 | g.128483891T>A | CA354404352 | GATA2 | c.986A>T (p.Asn329Ile) c.1268A>T (p.Asn423Ile) | |
| 3 | g.128483891T>C | CA354404355 | GATA2 | c.986A>G (p.Asn329Ser) c.1268A>G (p.Asn423Ser) | |
| 3 | g.128483891T>G | CA354404356 | GATA2 | c.986A>C (p.Asn329Thr) c.1268A>C (p.Asn423Thr) | |
| 3 | g.128483892T>A | CA354404359 | GATA2 | c.985A>T (p.Asn329Tyr) c.1267A>T (p.Asn423Tyr) | |
| 3 | g.128483892T>C | CA354404361 | GATA2 | c.985A>G (p.Asn329Asp) c.1267A>G (p.Asn423Asp) | |
| 3 | g.128483892T>G | CA354404362 | GATA2 | c.985A>C (p.Asn329His) c.1267A>C (p.Asn423His) | |
| 3 | g.128483893C>A | CA354404365 | GATA2 | c.984G>T (p.Gln328His) c.1266G>T (p.Gln422His) | |
| 3 | g.128483893C>G | CA354404367 | GATA2 | c.984G>C (p.Gln328His) c.1266G>C (p.Gln422His) | |
| 3 | g.128483893C>T | CA435509979 | GATA2 | c.984G>A (p.Gln328=) c.1266G>A (p.Gln422=) | |
| 3 | g.128483894T>A | CA354404370 | GATA2 | c.983A>T (p.Gln328Leu) c.1265A>T (p.Gln422Leu) | |
| 3 | g.128483894T>C | CA354404374 | GATA2 | c.983A>G (p.Gln328Arg) c.1265A>G (p.Gln422Arg) | gnomAD v4 |
| 3 | g.128483894T>G | CA354404372 | GATA2 | c.983A>C (p.Gln328Pro) c.1265A>C (p.Gln422Pro) | COSMIC |
| 3 | g.128483895G>A | CA354404377 | GATA2 | c.982C>T (p.Gln328Ter) c.1264C>T (p.Gln422Ter) | ClinVar dbSNP |
| 3 | g.128483895G>C | CA354404378 | GATA2 | c.982C>G (p.Gln328Glu) c.1264C>G (p.Gln422Glu) | |
| 3 | g.128483895G>T | CA354404380 | GATA2 | c.982C>A (p.Gln328Lys) c.1264C>A (p.Gln422Lys) | |
| 3 | g.128483896C>A | CA435509980 | GATA2 | c.981G>T (p.Gly327=) c.1263G>T (p.Gly421=) | |
| 3 | g.128483896C= | CA1400717401 | GATA2 | c.981G= (p.Gly327=) c.1263G= (p.Gly421=) | |
| 3 | g.128483896C>G | CA435509981 | GATA2 | c.981G>C (p.Gly327=) c.1263G>C (p.Gly421=) | |
| 3 | g.128483896C>T | CA435509982 | GATA2 | c.981G>A (p.Gly327=) c.1263G>A (p.Gly421=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128483897C>A | CA354404382 | GATA2 | c.980G>T (p.Gly327Val) c.1262G>T (p.Gly421Val) | |
| 3 | g.128483897C>G | CA354404384 | GATA2 | c.980G>C (p.Gly327Ala) c.1262G>C (p.Gly421Ala) | |
| 3 | g.128483897C>T | CA354404386 | GATA2 | c.980G>A (p.Gly327Glu) c.1262G>A (p.Gly421Glu) | |
| 3 | g.128483898C>A | CA354404390 | GATA2 | c.979G>T (p.Gly327Trp) c.1261G>T (p.Gly421Trp) | |
| 3 | g.128483898C>G | CA354404391 | GATA2 | c.979G>C (p.Gly327Arg) c.1261G>C (p.Gly421Arg) | |
| 3 | g.128483898C>T | CA354404393 | GATA2 | c.979G>A (p.Gly327Arg) c.1261G>A (p.Gly421Arg) | |
| 3 | g.128483899A= | CA1400717407 | GATA2 | c.978T= (p.Asn326=) c.1260T= (p.Asn420=) | |
| 3 | g.128483899A>C | CA354404397 | GATA2 | c.978T>G (p.Asn326Lys) c.1260T>G (p.Asn420Lys) | |
| 3 | g.128483899A>G | CA2599910 | GATA2 | c.978T>C (p.Asn326=) c.1260T>C (p.Asn420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483899A>T | CA354404395 | GATA2 | c.978T>A (p.Asn326Lys) c.1260T>A (p.Asn420Lys) | |
| 3 | g.128483900T>A | CA354404400 | GATA2 | c.977A>T (p.Asn326Ile) c.1259A>T (p.Asn420Ile) | |
| 3 | g.128483900T>C | CA354404401 | GATA2 | c.977A>G (p.Asn326Ser) c.1259A>G (p.Asn420Ser) | |
| 3 | g.128483900T>G | CA354404403 | GATA2 | c.977A>C (p.Asn326Thr) c.1259A>C (p.Asn420Thr) | |
| 3 | g.128483900_128483924dup | CA915941561 | GATA2 | c.953_977dup (p.Gly327LeufsTer?) c.1235_1259dup (p.Gly421LeufsTer?) | ClinVar dbSNP |
| 3 | g.128483901T>A | CA354404406 | GATA2 | c.976A>T (p.Asn326Tyr) c.1258A>T (p.Asn420Tyr) | |
| 3 | g.128483901T>C | CA354404408 | GATA2 | c.976A>G (p.Asn326Asp) c.1258A>G (p.Asn420Asp) | |
| 3 | g.128483901T>G | CA354404410 | GATA2 | c.976A>C (p.Asn326His) c.1258A>C (p.Asn420His) | |
| 3 | g.128483902C>A | CA354404412 | GATA2 | c.975G>T (p.Met325Ile) c.1257G>T (p.Met419Ile) | |
| 3 | g.128483902C>G | CA354404413 | GATA2 | c.975G>C (p.Met325Ile) c.1257G>C (p.Met419Ile) | |
| 3 | g.128483902C>T | CA354404415 | GATA2 | c.975G>A (p.Met325Ile) c.1257G>A (p.Met419Ile) | ClinVar dbSNP |
| 3 | g.128483903A>C | CA354404417 | GATA2 | c.974T>G (p.Met325Arg) c.1256T>G (p.Met419Arg) | |
| 3 | g.128483903A>G | CA354404419 | GATA2 | c.974T>C (p.Met325Thr) c.1256T>C (p.Met419Thr) | |
| 3 | g.128483903A>T | CA354404420 | GATA2 | c.974T>A (p.Met325Lys) c.1256T>A (p.Met419Lys) | |
| 3 | g.128483904T>A | CA354404426 | GATA2 | c.973A>T (p.Met325Leu) c.1255A>T (p.Met419Leu) | |
| 3 | g.128483904T>C | CA354404422 | GATA2 | c.973A>G (p.Met325Val) c.1255A>G (p.Met419Val) | |
| 3 | g.128483904T>G | CA354404424 | GATA2 | c.973A>C (p.Met325Leu) c.1255A>C (p.Met419Leu) | |
| 3 | g.128483905C>A | CA354404428 | GATA2 | c.972G>T (p.Lys324Asn) c.1254G>T (p.Lys418Asn) | |
| 3 | g.128483905C= | CA1400717413 | GATA2 | c.972G= (p.Lys324=) c.1254G= (p.Lys418=) | |
| 3 | g.128483905C>G | CA354404430 | GATA2 | c.972G>C (p.Lys324Asn) c.1254G>C (p.Lys418Asn) | dbSNP |
| 3 | g.128483905C>T | CA435509983 | GATA2 | c.972G>A (p.Lys324=) c.1254G>A (p.Lys418=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483905_128483906delinsCT | CA1400717415 | GATA2 | c.971_972delinsAG (p.Lys324=) c.1253_1254delinsAG (p.Lys418=) | |
| 3 | g.128483906T>A | CA354404432 | GATA2 | c.971A>T (p.Lys324Met) c.1253A>T (p.Lys418Met) | |
| 3 | g.128483906T>C | CA354404434 | GATA2 | c.971A>G (p.Lys324Arg) c.1253A>G (p.Lys418Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128483906T>G | CA354404436 | GATA2 | c.971A>C (p.Lys324Thr) c.1253A>C (p.Lys418Thr) | |
| 3 | g.128483906T= | CA1400717421 | GATA2 | c.971A= (p.Lys324=) c.1253A= (p.Lys418=) | |
| 3 | g.128483907del | CA915941562 | GATA2 | c.971del (p.Lys324ArgfsTer2) c.1253del (p.Lys418ArgfsTer2) | ClinVar dbSNP |
| 3 | g.128483907T>A | CA354404438 | GATA2 | c.970A>T (p.Lys324Ter) c.1252A>T (p.Lys418Ter) | |
| 3 | g.128483907T>C | CA354404440 | GATA2 | c.970A>G (p.Lys324Glu) c.1252A>G (p.Lys418Glu) | COSMIC |
| 3 | g.128483907T>G | CA354404442 | GATA2 | c.970A>C (p.Lys324Gln) c.1252A>C (p.Lys418Gln) | |
| 3 | g.128483908G>A | CA435509984 | GATA2 | c.969C>T (p.His323=) c.1251C>T (p.His417=) | |
| 3 | g.128483908G>C | CA354404445 | GATA2 | c.969C>G (p.His323Gln) c.1251C>G (p.His417Gln) | |
| 3 | g.128483908G>T | CA354404446 | GATA2 | c.969C>A (p.His323Gln) c.1251C>A (p.His417Gln) | |
| 3 | g.128483910_128483912del | CA1139655050 | GATA2 | c.967_969del (p.His323del) c.1249_1251del (p.His417del) | ClinVar |
| 3 | g.128483909T>A | CA354404449 | GATA2 | c.968A>T (p.His323Leu) c.1250A>T (p.His417Leu) | |
| 3 | g.128483909T>C | CA354404450 | GATA2 | c.968A>G (p.His323Arg) c.1250A>G (p.His417Arg) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128483909T>G | CA354404451 | GATA2 | c.968A>C (p.His323Pro) c.1250A>C (p.His417Pro) | |
| 3 | g.128483909T= | CA1400717429 | GATA2 | c.968A= (p.His323=) c.1250A= (p.His417=) | |
| 3 | g.128483909dup | CA2499216459 | GATA2 | c.968dup (p.His323GlnfsTer?) c.1250dup (p.His417GlnfsTer?) | ClinVar dbSNP |
| 3 | g.128483910G>A | CA354404453 | GATA2 | c.967C>T (p.His323Tyr) c.1249C>T (p.His417Tyr) | ClinVar |
| 3 | g.128483910G>C | CA354404454 | GATA2 | c.967C>G (p.His323Asp) c.1249C>G (p.His417Asp) | |
| 3 | g.128483910G>T | CA354404452 | GATA2 | c.967C>A (p.His323Asn) c.1249C>A (p.His417Asn) | |
| 3 | g.128483911G>A | CA2599911 | GATA2 | c.966C>T (p.Tyr322=) c.1248C>T (p.Tyr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483911G>C | CA354404455 | GATA2 | c.966C>G (p.Tyr322Ter) c.1248C>G (p.Tyr416Ter) | |
| 3 | g.128483911G= | CA1400717433 | GATA2 | c.966C= (p.Tyr322=) c.1248C= (p.Tyr416=) | |
| 3 | g.128483911G>T | CA354404456 | GATA2 | c.966C>A (p.Tyr322Ter) c.1248C>A (p.Tyr416Ter) | |
| 3 | g.128483912T>A | CA354404457 | GATA2 | c.965A>T (p.Tyr322Phe) c.1247A>T (p.Tyr416Phe) | |
| 3 | g.128483912T>C | CA354404458 | GATA2 | c.965A>G (p.Tyr322Cys) c.1247A>G (p.Tyr416Cys) | ClinVar |
| 3 | g.128483912T>G | CA354404459 | GATA2 | c.965A>C (p.Tyr322Ser) c.1247A>C (p.Tyr416Ser) | |
| 3 | g.128483913A>C | CA354404460 | GATA2 | c.964T>G (p.Tyr322Asp) c.1246T>G (p.Tyr416Asp) | |
| 3 | g.128483913A>G | CA354404461 | GATA2 | c.964T>C (p.Tyr322His) c.1246T>C (p.Tyr416His) | |
| 3 | g.128483913A>T | CA354404462 | GATA2 | c.964T>A (p.Tyr322Asn) c.1246T>A (p.Tyr416Asn) | |
| 3 | g.128483913_128483916dup | CA891841822 | GATA2 | c.961_964dup (p.Tyr322SerfsTer?) c.1243_1246dup (p.Tyr416SerfsTer?) | |
| 3 | g.128483914G>A | CA435509985 | GATA2 | c.963C>T (p.Leu321=) c.1245C>T (p.Leu415=) | ClinVar dbSNP |
| 3 | g.128483914G>C | CA435509986 | GATA2 | c.963C>G (p.Leu321=) c.1245C>G (p.Leu415=) | ClinVar dbSNP |
| 3 | g.128483914G>T | CA435509987 | GATA2 | c.963C>A (p.Leu321=) c.1245C>A (p.Leu415=) | |
| 3 | g.128483915A>C | CA354404463 | GATA2 | c.962T>G (p.Leu321Arg) c.1244T>G (p.Leu415Arg) | dbSNP COSMIC |
| 3 | g.128483915A>G | CA354404477 | GATA2 | c.962T>C (p.Leu321Pro) c.1244T>C (p.Leu415Pro) | dbSNP COSMIC |
| 3 | g.128483915A>T | CA354404475 | GATA2 | c.962T>A (p.Leu321His) c.1244T>A (p.Leu415His) | dbSNP COSMIC |
| 3 | g.128483915_128483916insCTA | CA2573052070 | GATA2 | c.962_963insAGT (p.Leu321_Tyr322insVal) c.1244_1245insAGT (p.Leu415_Tyr416insVal) | ClinVar dbSNP |
| 3 | g.128483919_128483925del | CA2499216460 | GATA2 | c.956_962del (p.Cys319SerfsTer5) c.1238_1244del (p.Cys413SerfsTer5) | ClinVar dbSNP |
| 3 | g.128483916G>A | CA354404480 | GATA2 | c.961C>T (p.Leu321Phe) c.1243C>T (p.Leu415Phe) | dbSNP gnomAD v4 COSMIC |
| 3 | g.128483916G>C | CA354404482 | GATA2 | c.961C>G (p.Leu321Val) c.1243C>G (p.Leu415Val) | dbSNP COSMIC |
| 3 | g.128483916G>T | CA354404483 | GATA2 | c.961C>A (p.Leu321Ile) c.1243C>A (p.Leu415Ile) | |
| 3 | g.128483917G>A | CA2599912 | GATA2 | c.960C>T (p.Gly320=) c.1242C>T (p.Gly414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483917G>C | CA435509988 | GATA2 | c.960C>G (p.Gly320=) c.1242C>G (p.Gly414=) | |
| 3 | g.128483917G= | CA1400717440 | GATA2 | c.960C= (p.Gly320=) c.1242C= (p.Gly414=) | |
| 3 | g.128483917G>T | CA435509989 | GATA2 | c.960C>A (p.Gly320=) c.1242C>A (p.Gly414=) | |
| 3 | g.128483918C>A | CA354404487 | GATA2 | c.959G>T (p.Gly320Val) c.1241G>T (p.Gly414Val) | dbSNP COSMIC |
| 3 | g.128483918C>G | CA354404490 | GATA2 | c.959G>C (p.Gly320Ala) c.1241G>C (p.Gly414Ala) | dbSNP COSMIC |
| 3 | g.128483918C>T | CA354404488 | GATA2 | c.959G>A (p.Gly320Asp) c.1241G>A (p.Gly414Asp) | dbSNP COSMIC |
| 3 | g.128483919C>A | CA354404492 | GATA2 | c.958G>T (p.Gly320Cys) c.1240G>T (p.Gly414Cys) | dbSNP |
| 3 | g.128483919C= | CA1400717445 | GATA2 | c.958G= (p.Gly320=) c.1240G= (p.Gly414=) | |
| 3 | g.128483919C>G | CA354404493 | GATA2 | c.958G>C (p.Gly320Arg) c.1240G>C (p.Gly414Arg) | |
| 3 | g.128483919C>T | CA354404494 | GATA2 | c.958G>A (p.Gly320Ser) c.1240G>A (p.Gly414Ser) | |
| 3 | g.128483920A>C | CA354404495 | GATA2 | c.957T>G (p.Cys319Trp) c.1239T>G (p.Cys413Trp) | |
| 3 | g.128483920A>G | CA435509991 | GATA2 | c.957T>C (p.Cys319=) c.1239T>C (p.Cys413=) | gnomAD v4 |
| 3 | g.128483920A>T | CA354404496 | GATA2 | c.957T>A (p.Cys319Ter) c.1239T>A (p.Cys413Ter) | |
| 3 | g.128483921C>A | CA354404498 | GATA2 | c.956G>T (p.Cys319Phe) c.1238G>T (p.Cys413Phe) | |
| 3 | g.128483921C>G | CA354404500 | GATA2 | c.956G>C (p.Cys319Ser) c.1238G>C (p.Cys413Ser) | |
| 3 | g.128483921C>T | CA354404502 | GATA2 | c.956G>A (p.Cys319Tyr) c.1238G>A (p.Cys413Tyr) | |
| 3 | g.128483922A>C | CA354404505 | GATA2 | c.955T>G (p.Cys319Gly) c.1237T>G (p.Cys413Gly) | |
| 3 | g.128483922A>G | CA354404507 | GATA2 | c.955T>C (p.Cys319Arg) c.1237T>C (p.Cys413Arg) | |
| 3 | g.128483922A>T | CA354404508 | GATA2 | c.955T>A (p.Cys319Ser) c.1237T>A (p.Cys413Ser) | |
| 3 | g.128483922_128483924dup | CA645529131 | GATA2 | c.953_955dup (p.Ala318_Cys319insSer) c.1235_1237dup (p.Ala412_Cys413insSer) | COSMIC |
| 3 | g.128483923G>A | CA435509992 | GATA2 | c.954C>T (p.Ala318=) c.1236C>T (p.Ala412=) | |
| 3 | g.128483923G>C | CA435509993 | GATA2 | c.954C>G (p.Ala318=) c.1236C>G (p.Ala412=) | |
| 3 | g.128483923G>T | CA435509994 | GATA2 | c.954C>A (p.Ala318=) c.1236C>A (p.Ala412=) | |
| 3 | g.128483924G>A | CA354404511 | GATA2 | c.953C>T (p.Ala318Val) c.1235C>T (p.Ala412Val) | ClinVar dbSNP COSMIC |
| 3 | g.128483924G>C | CA354404513 | GATA2 | c.953C>G (p.Ala318Gly) c.1235C>G (p.Ala412Gly) | dbSNP COSMIC |
| 3 | g.128483924G>T | CA354404512 | GATA2 | c.953C>A (p.Ala318Asp) c.1235C>A (p.Ala412Asp) | dbSNP COSMIC |
| 3 | g.128483925C>A | CA354404516 | GATA2 | c.952G>T (p.Ala318Ser) c.1234G>T (p.Ala412Ser) | |
| 3 | g.128483925C>G | CA354404517 | GATA2 | c.952G>C (p.Ala318Pro) c.1234G>C (p.Ala412Pro) | |
| 3 | g.128483925C>T | CA354404520 | GATA2 | c.952G>A (p.Ala318Thr) c.1234G>A (p.Ala412Thr) | ClinVar dbSNP COSMIC |
| 3 | g.128483926A= | CA1400717448 | GATA2 | c.951T= (p.Asn317=) c.1233T= (p.Asn411=) | |
| 3 | g.128483926A>C | CA354404522 | GATA2 | c.951T>G (p.Asn317Lys) c.1233T>G (p.Asn411Lys) | |
| 3 | g.128483926A>G | CA2599913 | GATA2 | c.951T>C (p.Asn317=) c.1233T>C (p.Asn411=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483926A>T | CA354404527 | GATA2 | c.951T>A (p.Asn317Lys) c.1233T>A (p.Asn411Lys) | |
| 3 | g.128483927_128483937dup | CA2499216462 | GATA2 | c.941_951dup (p.Ala318ThrfsTer12) c.1223_1233dup (p.Ala412ThrfsTer12) | ClinVar dbSNP |
| 3 | g.128483927_128483937del | CA2499216461 | GATA2 | c.941_951del (p.Tyr314CysfsTer?) c.1223_1233del (p.Tyr408CysfsTer?) | ClinVar dbSNP |
| 3 | g.128483927T>A | CA354404530 | GATA2 | c.950A>T (p.Asn317Ile) c.1232A>T (p.Asn411Ile) | dbSNP COSMIC |
| 3 | g.128483927T>C | CA354404531 | GATA2 | c.950A>G (p.Asn317Ser) c.1232A>G (p.Asn411Ser) | ClinVar dbSNP COSMIC |
| 3 | g.128483927T>G | CA354404532 | GATA2 | c.950A>C (p.Asn317Thr) c.1232A>C (p.Asn411Thr) | |
| 3 | g.128483927T= | CA1400717454 | GATA2 | c.950A= (p.Asn317=) c.1232A= (p.Asn411=) | |
| 3 | g.128483928T>A | CA354404534 | GATA2 | c.949A>T (p.Asn317Tyr) c.1231A>T (p.Asn411Tyr) | |
| 3 | g.128483928T>C | CA354404536 | GATA2 | c.949A>G (p.Asn317Asp) c.1231A>G (p.Asn411Asp) | ClinVar |
| 3 | g.128483928T>G | CA354404538 | GATA2 | c.949A>C (p.Asn317His) c.1231A>C (p.Asn411His) | dbSNP COSMIC |
| 3 | g.128483928T= | CA1400717457 | GATA2 | c.949A= (p.Asn317=) c.1231A= (p.Asn411=) |