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.128485672C>A | CA546098448 | GATA2 | c.871+55G>T (n.871+55G>T) c.1153+55G>T (n.1153+55G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485672C= | CA1400718803 | GATA2 | c.871+55G= (n.871+55G=) c.1153+55G= (n.1153+55G=) | |
3 | g.128485672C>T | CA2758339326 | GATA2 | c.871+55G>A (n.871+55G>A) c.1153+55G>A (n.1153+55G>A) | |
3 | g.128485673C>A | CA2667541055 | GATA2 | c.871+54G>T (n.871+54G>T) c.1153+54G>T (n.1153+54G>T) | gnomAD v4 |
3 | g.128485673C>G | CA2667541056 | GATA2 | c.871+54G>C (n.871+54G>C) c.1153+54G>C (n.1153+54G>C) | gnomAD v4 |
3 | g.128485674A>T | CA2667541057 | GATA2 | c.871+53T>A (n.871+53T>A) c.1153+53T>A (n.1153+53T>A) | gnomAD v4 |
3 | g.128485675C>A | CA2667541058 | GATA2 | c.871+52G>T (n.871+52G>T) c.1153+52G>T (n.1153+52G>T) | gnomAD v4 |
3 | g.128485675C>G | CA2577890766 | GATA2 | c.871+52G>C (n.871+52G>C) c.1153+52G>C (n.1153+52G>C) | |
3 | g.128485675_128485676delinsCA | CA1400718804 | GATA2 | c.871+51_871+52delinsTG (n.871+51_871+52delinsTG) c.1153+51_1153+52delinsTG (n.1153+51_1153+52delinsTG) | |
3 | g.128485676A= | CA1400718806 | GATA2 | c.871+51T= (n.871+51T=) c.1153+51T= (n.1153+51T=) | |
3 | g.128485676A>G | CA898650793 | GATA2 | c.871+51T>C (n.871+51T>C) c.1153+51T>C (n.1153+51T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485680dup | CA546098449 | GATA2 | c.871+51dup (n.871+51dup) c.1153+51dup (n.1153+51dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485680del | CA917003442 | GATA2 | c.871+51del (n.871+51del) c.1153+51del (n.1153+51del) | dbSNP gnomAD v4 |
3 | g.128485677A>T | CA2758339327 | GATA2 | c.871+50T>A (n.871+50T>A) c.1153+50T>A (n.1153+50T>A) | |
3 | g.128485678A= | CA1400718808 | GATA2 | c.871+49T= (n.871+49T=) c.1153+49T= (n.1153+49T=) | |
3 | g.128485678A>G | CA2599936 | GATA2 | c.871+49T>C (n.871+49T>C) c.1153+49T>C (n.1153+49T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485679_128485683delinsAACGC | CA1400718810 | GATA2 | c.871+44_871+48delinsGCGTT (n.871+44_871+48delinsGCGTT) c.1153+44_1153+48delinsGCGTT (n.1153+44_1153+48delinsGCGTT) | |
3 | g.128485680A= | CA1400718812 | GATA2 | c.871+47T= (n.871+47T=) c.1153+47T= (n.1153+47T=) | |
3 | g.128485680A>T | CA2599937 | GATA2 | c.871+47T>A (n.871+47T>A) c.1153+47T>A (n.1153+47T>A) | dbSNP ExAC gnomAD v4 |
3 | g.128485681_128485684del | CA546098451 | GATA2 | c.871+44_871+47del (n.871+44_871+47del) c.1153+44_1153+47del (n.1153+44_1153+47del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485681C>A | CA2667541059 | GATA2 | c.871+46G>T (n.871+46G>T) c.1153+46G>T (n.1153+46G>T) | gnomAD v4 |
3 | g.128485681C>T | CA2667541060 | GATA2 | c.871+46G>A (n.871+46G>A) c.1153+46G>A (n.1153+46G>A) | dbSNP gnomAD v4 |
3 | g.128485682G>A | CA546098453 | GATA2 | c.871+45C>T (n.871+45C>T) c.1153+45C>T (n.1153+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485682G= | CA1400718814 | GATA2 | c.871+45C= (n.871+45C=) c.1153+45C= (n.1153+45C=) | |
3 | g.128485682G>T | CA2667541061 | GATA2 | c.871+45C>A (n.871+45C>A) c.1153+45C>A (n.1153+45C>A) | gnomAD v4 |
3 | g.128485683C= | CA1400718817 | GATA2 | c.871+44G= (n.871+44G=) c.1153+44G= (n.1153+44G=) | |
3 | g.128485683C>T | CA2599938 | GATA2 | c.871+44G>A (n.871+44G>A) c.1153+44G>A (n.1153+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485686A= | CA1400718818 | GATA2 | c.871+41T= (n.871+41T=) c.1153+41T= (n.1153+41T=) | |
3 | g.128485686A>G | CA2599939 | GATA2 | c.871+41T>C (n.871+41T>C) c.1153+41T>C (n.1153+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485688G>A | CA546098456 | GATA2 | c.871+39C>T (n.871+39C>T) c.1153+39C>T (n.1153+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485688G= | CA1400718820 | GATA2 | c.871+39C= (n.871+39C=) c.1153+39C= (n.1153+39C=) | |
3 | g.128485688G>T | CA546098457 | GATA2 | c.871+39C>A (n.871+39C>A) c.1153+39C>A (n.1153+39C>A) | dbSNP gnomAD v2 |
3 | g.128485689C= | CA1400718822 | GATA2 | c.871+38G= (n.871+38G=) c.1153+38G= (n.1153+38G=) | |
3 | g.128485689C>T | CA546098458 | GATA2 | c.871+38G>A (n.871+38G>A) c.1153+38G>A (n.1153+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485690T>A | CA546098459 | GATA2 | c.871+37A>T (n.871+37A>T) c.1153+37A>T (n.1153+37A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485690T>C | CA2667541062 | GATA2 | c.871+37A>G (n.871+37A>G) c.1153+37A>G (n.1153+37A>G) | gnomAD v4 |
3 | g.128485690T= | CA1400718824 | GATA2 | c.871+37A= (n.871+37A=) c.1153+37A= (n.1153+37A=) | |
3 | g.128485691C>A | CA2667541063 | GATA2 | c.871+36G>T (n.871+36G>T) c.1153+36G>T (n.1153+36G>T) | gnomAD v4 |
3 | g.128485691C= | CA1400718826 | GATA2 | c.871+36G= (n.871+36G=) c.1153+36G= (n.1153+36G=) | |
3 | g.128485691C>T | CA2599940 | GATA2 | c.871+36G>A (n.871+36G>A) c.1153+36G>A (n.1153+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485692C>A | CA2667541064 | GATA2 | c.871+35G>T (n.871+35G>T) c.1153+35G>T (n.1153+35G>T) | gnomAD v4 |
3 | g.128485693C>A | CA2667541065 | GATA2 | c.871+34G>T (n.871+34G>T) c.1153+34G>T (n.1153+34G>T) | gnomAD v4 |
3 | g.128485693C= | CA1400718828 | GATA2 | c.871+34G= (n.871+34G=) c.1153+34G= (n.1153+34G=) | |
3 | g.128485693C>G | CA546098460 | GATA2 | c.871+34G>C (n.871+34G>C) c.1153+34G>C (n.1153+34G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485694C>A | CA2562114736 | GATA2 | c.871+33G>T (n.871+33G>T) c.1153+33G>T (n.1153+33G>T) | gnomAD v4 |
3 | g.128485694C>T | CA2667541066 | GATA2 | c.871+33G>A (n.871+33G>A) c.1153+33G>A (n.1153+33G>A) | gnomAD v4 |
3 | g.128485695T>C | CA1400718831 | GATA2 | c.871+32A>G (n.871+32A>G) c.1153+32A>G (n.1153+32A>G) | dbSNP |
3 | g.128485695T= | CA1400718830 | GATA2 | c.871+32A= (n.871+32A=) c.1153+32A= (n.1153+32A=) | |
3 | g.128485696C>A | CA83371683 | GATA2 | c.871+31G>T (n.871+31G>T) c.1153+31G>T (n.1153+31G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485696C= | CA1400718833 | GATA2 | c.871+31G= (n.871+31G=) c.1153+31G= (n.1153+31G=) | |
3 | g.128485696C>T | CA2599941 | GATA2 | c.871+31G>A (n.871+31G>A) c.1153+31G>A (n.1153+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485697T>A | CA2599942 | GATA2 | c.871+30A>T (n.871+30A>T) c.1153+30A>T (n.1153+30A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485697T= | CA1400718835 | GATA2 | c.871+30A= (n.871+30A=) c.1153+30A= (n.1153+30A=) | |
3 | g.128485698T>C | CA546098461 | GATA2 | c.871+29A>G (n.871+29A>G) c.1153+29A>G (n.1153+29A>G) | dbSNP gnomAD v2 |
3 | g.128485698T= | CA1400718837 | GATA2 | c.871+29A= (n.871+29A=) c.1153+29A= (n.1153+29A=) | |
3 | g.128485700C= | CA1400718838 | GATA2 | c.871+27G= (n.871+27G=) c.1153+27G= (n.1153+27G=) | |
3 | g.128485700C>T | CA1400718839 | GATA2 | c.871+27G>A (n.871+27G>A) c.1153+27G>A (n.1153+27G>A) | dbSNP |
3 | g.128485701A= | CA1400718841 | GATA2 | c.871+26T= (n.871+26T=) c.1153+26T= (n.1153+26T=) | |
3 | g.128485701A>G | CA1400718843 | GATA2 | c.871+26T>C (n.871+26T>C) c.1153+26T>C (n.1153+26T>C) | dbSNP |
3 | g.128485702C= | CA1400718845 | GATA2 | c.871+25G= (n.871+25G=) c.1153+25G= (n.1153+25G=) | |
3 | g.128485702C>G | CA546098462 | GATA2 | c.871+25G>C (n.871+25G>C) c.1153+25G>C (n.1153+25G>C) | dbSNP gnomAD v2 |
3 | g.128485702C>T | CA2599943 | GATA2 | c.871+25G>A (n.871+25G>A) c.1153+25G>A (n.1153+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485703G>A | CA2599945 | GATA2 | c.871+24C>T (n.871+24C>T) c.1153+24C>T (n.1153+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485703G= | CA1400718848 | GATA2 | c.871+24C= (n.871+24C=) c.1153+24C= (n.1153+24C=) | |
3 | g.128485703G>T | CA2599944 | GATA2 | c.871+24C>A (n.871+24C>A) c.1153+24C>A (n.1153+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485704A= | CA1400718851 | GATA2 | c.871+23T= (n.871+23T=) c.1153+23T= (n.1153+23T=) | |
3 | g.128485704A>C | CA1400718852 | GATA2 | c.871+23T>G (n.871+23T>G) c.1153+23T>G (n.1153+23T>G) | dbSNP gnomAD v4 |
3 | g.128485705A= | CA1400718853 | GATA2 | c.871+22T= (n.871+22T=) c.1153+22T= (n.1153+22T=) | |
3 | g.128485705A>G | CA546098463 | GATA2 | c.871+22T>C (n.871+22T>C) c.1153+22T>C (n.1153+22T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485706G>A | CA898650832 | GATA2 | c.871+21C>T (n.871+21C>T) c.1153+21C>T (n.1153+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485706G>C | CA2667541067 | GATA2 | c.871+21C>G (n.871+21C>G) c.1153+21C>G (n.1153+21C>G) | gnomAD v4 |
3 | g.128485706G= | CA1400718855 | GATA2 | c.871+21C= (n.871+21C=) c.1153+21C= (n.1153+21C=) | |
3 | g.128485708C>T | CA2667541068 | GATA2 | c.871+19G>A (n.871+19G>A) c.1153+19G>A (n.1153+19G>A) | ClinVar gnomAD v4 |
3 | g.128485709C>A | CA2580068739 | GATA2 | c.871+18G>T (n.871+18G>T) c.1153+18G>T (n.1153+18G>T) | ClinVar |
3 | g.128485710C>A | CA2549034460 | GATA2 | c.871+17G>T (n.871+17G>T) c.1153+17G>T (n.1153+17G>T) | |
3 | g.128485710C>G | CA2559072138 | GATA2 | c.871+17G>C (n.871+17G>C) c.1153+17G>C (n.1153+17G>C) | ClinVar dbSNP |
3 | g.128485713G>T | CA2667541069 | GATA2 | c.871+14C>A (n.871+14C>A) c.1153+14C>A (n.1153+14C>A) | gnomAD v4 |
3 | g.128485715A= | CA1400718857 | GATA2 | c.871+12T= (n.871+12T=) c.1153+12T= (n.1153+12T=) | |
3 | g.128485715A>C | CA1400718858 | GATA2 | c.871+12T>G (n.871+12T>G) c.1153+12T>G (n.1153+12T>G) | dbSNP |
3 | g.128485715A>G | CA2667541070 | GATA2 | c.871+12T>C (n.871+12T>C) c.1153+12T>C (n.1153+12T>C) | gnomAD v4 |
3 | g.128485715A>T | CA2573136522 | GATA2 | c.871+12T>A (n.871+12T>A) c.1153+12T>A (n.1153+12T>A) | ClinVar dbSNP |
3 | g.128485716C>T | CA2667541071 | GATA2 | c.871+11G>A (n.871+11G>A) c.1153+11G>A (n.1153+11G>A) | gnomAD v4 |
3 | g.128485717C>G | CA2573136523 | GATA2 | c.871+10G>C (n.871+10G>C) c.1153+10G>C (n.1153+10G>C) | ClinVar dbSNP |
3 | g.128485718T>G | CA2758339330 | GATA2 | c.871+9A>C (n.871+9A>C) c.1153+9A>C (n.1153+9A>C) | |
3 | g.128485719G>A | CA916081441 | GATA2 | c.871+8C>T (n.871+8C>T) c.1153+8C>T (n.1153+8C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.128485719G= | CA1400718860 | GATA2 | c.871+8C= (n.871+8C=) c.1153+8C= (n.1153+8C=) | |
3 | g.128485720C= | CA1400718862 | GATA2 | c.871+7G= (n.871+7G=) c.1153+7G= (n.1153+7G=) | |
3 | g.128485720C>T | CA1400718863 | GATA2 | c.871+7G>A (n.871+7G>A) c.1153+7G>A (n.1153+7G>A) | dbSNP |
3 | g.128485721C= | CA1400718864 | GATA2 | c.871+6G= (n.871+6G=) c.1153+6G= (n.1153+6G=) | |
3 | g.128485721C>T | CA898650835 | GATA2 | c.871+6G>A (n.871+6G>A) c.1153+6G>A (n.1153+6G>A) | dbSNP |
3 | g.128485722T>C | CA2740090987 | GATA2 | c.871+5A>G (n.871+5A>G) c.1153+5A>G (n.1153+5A>G) | ClinVar |
3 | g.128485723T>C | CA916081442 | GATA2 | c.871+4A>G (n.871+4A>G) c.1153+4A>G (n.1153+4A>G) | ClinVar dbSNP |
3 | g.128485723T= | CA1400718869 | GATA2 | c.871+4A= (n.871+4A=) c.1153+4A= (n.1153+4A=) | |
3 | g.128485725A>C | CA354405083 | GATA2 | c.871+2T>G (n.871+2T>G) c.1153+2T>G (n.1153+2T>G) | |
3 | g.128485725A>G | CA354405084 | GATA2 | c.871+2T>C (n.871+2T>C) c.1153+2T>C (n.1153+2T>C) | |
3 | g.128485725A>T | CA354405085 | GATA2 | c.871+2T>A (n.871+2T>A) c.1153+2T>A (n.1153+2T>A) | |
3 | g.128485725dup | CA2586965885 | GATA2 | c.871+2dup (n.871+2dup) c.1153+2dup (n.1153+2dup) | |
3 | g.128485726C>A | CA354405086 | GATA2 | c.871+1G>T (n.871+1G>T) c.1153+1G>T (n.1153+1G>T) | |
3 | g.128485726C>G | CA354405087 | GATA2 | c.871+1G>C (n.871+1G>C) c.1153+1G>C (n.1153+1G>C) | |
3 | g.128485726C>T | CA354405088 | GATA2 | c.871+1G>A (n.871+1G>A) c.1153+1G>A (n.1153+1G>A) | ClinVar gnomAD v4 |
3 | g.128485727C>A | CA354405089 | GATA2 | c.871G>T (p.Glu291Ter) c.1153G>T (p.Glu385Ter) | |
3 | g.128485727C>G | CA354405090 | GATA2 | c.871G>C (p.Glu291Gln) c.1153G>C (p.Glu385Gln) | |
3 | g.128485727C>T | CA354405091 | GATA2 | c.871G>A (p.Glu291Lys) c.1153G>A (p.Glu385Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485728T>A | CA435510200 | GATA2 | c.870A>T (p.Ser290=) c.1152A>T (p.Ser384=) | |
3 | g.128485728T>C | CA435510201 | GATA2 | c.870A>G (p.Ser290=) c.1152A>G (p.Ser384=) | |
3 | g.128485728T>G | CA435510202 | GATA2 | c.870A>C (p.Ser290=) c.1152A>C (p.Ser384=) | |
3 | g.128485729G>A | CA354405094 | GATA2 | c.869C>T (p.Ser290Leu) c.1151C>T (p.Ser384Leu) | dbSNP |
3 | g.128485729G>C | CA354405093 | GATA2 | c.869C>G (p.Ser290Ter) c.1151C>G (p.Ser384Ter) | |
3 | g.128485729G= | CA1400718871 | GATA2 | c.869C= (p.Ser290=) c.1151C= (p.Ser384=) | |
3 | g.128485729G>T | CA354405092 | GATA2 | c.869C>A (p.Ser290Ter) c.1151C>A (p.Ser384Ter) | ClinVar dbSNP |
3 | g.128485730A>C | CA354405095 | GATA2 | c.868T>G (p.Ser290Ala) c.1150T>G (p.Ser384Ala) | |
3 | g.128485730A>G | CA354405096 | GATA2 | c.868T>C (p.Ser290Pro) c.1150T>C (p.Ser384Pro) | |
3 | g.128485730A>T | CA354405097 | GATA2 | c.868T>A (p.Ser290Thr) c.1150T>A (p.Ser384Thr) | |
3 | g.128485731A= | CA1400718873 | GATA2 | c.867T= (p.Cys289=) c.1149T= (p.Cys383=) | |
3 | g.128485731A>C | CA354405098 | GATA2 | c.867T>G (p.Cys289Trp) c.1149T>G (p.Cys383Trp) | |
3 | g.128485731A>G | CA2599946 | GATA2 | c.867T>C (p.Cys289=) c.1149T>C (p.Cys383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485731A>T | CA354405099 | GATA2 | c.867T>A (p.Cys289Ter) c.1149T>A (p.Cys383Ter) | |
3 | g.128485732C>A | CA354405100 | GATA2 | c.866G>T (p.Cys289Phe) c.1148G>T (p.Cys383Phe) | ClinVar |
3 | g.128485732C= | CA1400718878 | GATA2 | c.866G= (p.Cys289=) c.1148G= (p.Cys383=) | |
3 | g.128485732C>G | CA354405101 | GATA2 | c.866G>C (p.Cys289Ser) c.1148G>C (p.Cys383Ser) | ClinVar gnomAD v4 |
3 | g.128485732C>T | CA2599947 | GATA2 | c.866G>A (p.Cys289Tyr) c.1148G>A (p.Cys383Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485733A>C | CA354405102 | GATA2 | c.865T>G (p.Cys289Gly) c.1147T>G (p.Cys383Gly) | |
3 | g.128485733A>G | CA354405103 | GATA2 | c.865T>C (p.Cys289Arg) c.1147T>C (p.Cys383Arg) | |
3 | g.128485733A>T | CA354405104 | GATA2 | c.865T>A (p.Cys289Ser) c.1147T>A (p.Cys383Ser) | |
3 | g.128485734G>A | CA2599948 | GATA2 | c.864C>T (p.Ser288=) c.1146C>T (p.Ser382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485734G>C | CA435510207 | GATA2 | c.864C>G (p.Ser288=) c.1146C>G (p.Ser382=) | |
3 | g.128485734G= | CA1400718880 | GATA2 | c.864C= (p.Ser288=) c.1146C= (p.Ser382=) | |
3 | g.128485734G>T | CA435510208 | GATA2 | c.864C>A (p.Ser288=) c.1146C>A (p.Ser382=) | gnomAD v4 |
3 | g.128485735del | CA1139771820 | GATA2 | c.864del (p.Cys289ValfsTer?) c.1146del (p.Cys383ValfsTer?) | |
3 | g.128485735G>A | CA2599949 | GATA2 | c.863C>T (p.Ser288Phe) c.1145C>T (p.Ser382Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485735G>C | CA354405105 | GATA2 | c.863C>G (p.Ser288Cys) c.1145C>G (p.Ser382Cys) | |
3 | g.128485735G= | CA1400718883 | GATA2 | c.863C= (p.Ser288=) c.1145C= (p.Ser382=) | |
3 | g.128485735G>T | CA354405106 | GATA2 | c.863C>A (p.Ser288Tyr) c.1145C>A (p.Ser382Tyr) | |
3 | g.128485736A>C | CA354405107 | GATA2 | c.862T>G (p.Ser288Ala) c.1144T>G (p.Ser382Ala) | |
3 | g.128485736A>G | CA354405108 | GATA2 | c.862T>C (p.Ser288Pro) c.1144T>C (p.Ser382Pro) | |
3 | g.128485736A>T | CA354405109 | GATA2 | c.862T>A (p.Ser288Thr) c.1144T>A (p.Ser382Thr) | |
3 | g.128485737A>C | CA435510212 | GATA2 | c.861T>G (p.Arg287=) c.1143T>G (p.Arg381=) | |
3 | g.128485737A>G | CA435510213 | GATA2 | c.861T>C (p.Arg287=) c.1143T>C (p.Arg381=) | gnomAD v4 |
3 | g.128485737A>T | CA435510214 | GATA2 | c.861T>A (p.Arg287=) c.1143T>A (p.Arg381=) | |
3 | g.128485738C>A | CA354405110 | GATA2 | c.860G>T (p.Arg287Leu) c.1142G>T (p.Arg381Leu) | |
3 | g.128485738C= | CA1400718885 | GATA2 | c.860G= (p.Arg287=) c.1142G= (p.Arg381=) | |
3 | g.128485738C>G | CA354405111 | GATA2 | c.860G>C (p.Arg287Pro) c.1142G>C (p.Arg381Pro) | |
3 | g.128485738C>T | CA83371712 | GATA2 | c.860G>A (p.Arg287His) c.1142G>A (p.Arg381His) | ClinVar dbSNP gnomAD v4 |
3 | g.128485739G>A | CA354405112 | GATA2 | c.859C>T (p.Arg287Cys) c.1141C>T (p.Arg381Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.128485739G>C | CA354405113 | GATA2 | c.859C>G (p.Arg287Gly) c.1141C>G (p.Arg381Gly) | |
3 | g.128485739G>T | CA354405114 | GATA2 | c.859C>A (p.Arg287Ser) c.1141C>A (p.Arg381Ser) | |
3 | g.128485740A>C | CA435510216 | GATA2 | c.858T>G (p.Ala286=) c.1140T>G (p.Ala380=) | |
3 | g.128485740A>G | CA435510217 | GATA2 | c.858T>C (p.Ala286=) c.1140T>C (p.Ala380=) | |
3 | g.128485740A>T | CA435510218 | GATA2 | c.858T>A (p.Ala286=) c.1140T>A (p.Ala380=) | |
3 | g.128485741G>A | CA207231 | GATA2 | c.857C>T (p.Ala286Val) c.1139C>T (p.Ala380Val) | ClinVar dbSNP |
3 | g.128485741G>C | CA354405115 | GATA2 | c.857C>G (p.Ala286Gly) c.1139C>G (p.Ala380Gly) | ClinVar dbSNP |
3 | g.128485741G= | CA1400718892 | GATA2 | c.857C= (p.Ala286=) c.1139C= (p.Ala380=) | |
3 | g.128485741G>T | CA354405116 | GATA2 | c.857C>A (p.Ala286Asp) c.1139C>A (p.Ala380Asp) | gnomAD v4 |
3 | g.128485742C>A | CA2599950 | GATA2 | c.856G>T (p.Ala286Ser) c.1138G>T (p.Ala380Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485742C= | CA1400718902 | GATA2 | c.856G= (p.Ala286=) c.1138G= (p.Ala380=) | |
3 | g.128485742C>G | CA354405118 | GATA2 | c.856G>C (p.Ala286Pro) c.1138G>C (p.Ala380Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485742C>T | CA354405117 | GATA2 | c.856G>A (p.Ala286Thr) c.1138G>A (p.Ala380Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128485742_128485757delinsCCTTGCTGCGCTGCTT | CA1400718904 | GATA2 | c.841_856delinsAAGCAGCGCAGCAAGG (p.Lys281=) c.1123_1138delinsAAGCAGCGCAGCAAGG (p.Lys375=) | |
3 | g.128485743C>A | CA354405120 | GATA2 | c.855G>T (p.Lys285Asn) c.1137G>T (p.Lys379Asn) | |
3 | g.128485743C>G | CA354405119 | GATA2 | c.855G>C (p.Lys285Asn) c.1137G>C (p.Lys379Asn) | |
3 | g.128485743C>T | CA435510222 | GATA2 | c.855G>A (p.Lys285=) c.1137G>A (p.Lys379=) | ClinVar dbSNP |
3 | g.128485743_128485757del | CA2599951 | GATA2 | c.841_855del (p.Lys281_Lys285del) c.1123_1137del (p.Lys375_Lys379del) | dbSNP ExAC gnomAD v2 |
3 | g.128485744T>A | CA354405121 | GATA2 | c.854A>T (p.Lys285Met) c.1136A>T (p.Lys379Met) | |
3 | g.128485744T>C | CA354405122 | GATA2 | c.854A>G (p.Lys285Arg) c.1136A>G (p.Lys379Arg) | |
3 | g.128485744T>G | CA354405123 | GATA2 | c.854A>C (p.Lys285Thr) c.1136A>C (p.Lys379Thr) | |
3 | g.128485745T>A | CA354405124 | GATA2 | c.853A>T (p.Lys285Ter) c.1135A>T (p.Lys379Ter) | |
3 | g.128485745T>C | CA354405125 | GATA2 | c.853A>G (p.Lys285Glu) c.1135A>G (p.Lys379Glu) | |
3 | g.128485745T>G | CA354405126 | GATA2 | c.853A>C (p.Lys285Gln) c.1135A>C (p.Lys379Gln) | |
3 | g.128485746G>A | CA435510226 | GATA2 | c.852C>T (p.Ser284=) c.1134C>T (p.Ser378=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485746G>C | CA354405127 | GATA2 | c.852C>G (p.Ser284Arg) c.1134C>G (p.Ser378Arg) | |
3 | g.128485746G= | CA1400718909 | GATA2 | c.852C= (p.Ser284=) c.1134C= (p.Ser378=) | |
3 | g.128485746G>T | CA354405128 | GATA2 | c.852C>A (p.Ser284Arg) c.1134C>A (p.Ser378Arg) | |
3 | g.128485747C>A | CA354405129 | GATA2 | c.851G>T (p.Ser284Ile) c.1133G>T (p.Ser378Ile) | |
3 | g.128485747C>G | CA354405130 | GATA2 | c.851G>C (p.Ser284Thr) c.1133G>C (p.Ser378Thr) | |
3 | g.128485747C>T | CA354405131 | GATA2 | c.851G>A (p.Ser284Asn) c.1133G>A (p.Ser378Asn) | |
3 | g.128485748T>A | CA354405132 | GATA2 | c.850A>T (p.Ser284Cys) c.1132A>T (p.Ser378Cys) | |
3 | g.128485748T>C | CA354405134 | GATA2 | c.850A>G (p.Ser284Gly) c.1132A>G (p.Ser378Gly) | |
3 | g.128485748T>G | CA354405133 | GATA2 | c.850A>C (p.Ser284Arg) c.1132A>C (p.Ser378Arg) | |
3 | g.128485749G>A | CA435510228 | GATA2 | c.849C>T (p.Arg283=) c.1131C>T (p.Arg377=) | ClinVar gnomAD v4 |
3 | g.128485749G>C | CA435510229 | GATA2 | c.849C>G (p.Arg283=) c.1131C>G (p.Arg377=) | |
3 | g.128485749G>T | CA435510230 | GATA2 | c.849C>A (p.Arg283=) c.1131C>A (p.Arg377=) | ClinVar gnomAD v4 |
3 | g.128485750C>A | CA354405135 | GATA2 | c.848G>T (p.Arg283Leu) c.1130G>T (p.Arg377Leu) | dbSNP gnomAD v4 |
3 | g.128485750C= | CA1400718914 | GATA2 | c.848G= (p.Arg283=) c.1130G= (p.Arg377=) | |
3 | g.128485750C>G | CA354405136 | GATA2 | c.848G>C (p.Arg283Pro) c.1130G>C (p.Arg377Pro) | |
3 | g.128485750C>T | CA354405137 | GATA2 | c.848G>A (p.Arg283His) c.1130G>A (p.Arg377His) | ClinVar dbSNP gnomAD v4 |
3 | g.128485751G>A | CA2599952 | GATA2 | c.847C>T (p.Arg283Cys) c.1129C>T (p.Arg377Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.128485751G>C | CA354405138 | GATA2 | c.847C>G (p.Arg283Gly) c.1129C>G (p.Arg377Gly) | |
3 | g.128485751G= | CA1400718920 | GATA2 | c.847C= (p.Arg283=) c.1129C= (p.Arg377=) | |
3 | g.128485751G>T | CA354405139 | GATA2 | c.847C>A (p.Arg283Ser) c.1129C>A (p.Arg377Ser) | dbSNP gnomAD v2 |
3 | g.128485752C>A | CA354405140 | GATA2 | c.846G>T (p.Gln282His) c.1128G>T (p.Gln376His) | |
3 | g.128485752C>G | CA354405141 | GATA2 | c.846G>C (p.Gln282His) c.1128G>C (p.Gln376His) | |
3 | g.128485752C>T | CA435510234 | GATA2 | c.846G>A (p.Gln282=) c.1128G>A (p.Gln376=) | gnomAD v4 |
3 | g.128485753T>A | CA354405142 | GATA2 | c.845A>T (p.Gln282Leu) c.1127A>T (p.Gln376Leu) | |
3 | g.128485753T>C | CA354405143 | GATA2 | c.845A>G (p.Gln282Arg) c.1127A>G (p.Gln376Arg) | |
3 | g.128485753T>G | CA354405144 | GATA2 | c.845A>C (p.Gln282Pro) c.1127A>C (p.Gln376Pro) | |
3 | g.128485754G>A | CA354405147 | GATA2 | c.844C>T (p.Gln282Ter) c.1126C>T (p.Gln376Ter) | ClinVar dbSNP |
3 | g.128485754G>C | CA354405146 | GATA2 | c.844C>G (p.Gln282Glu) c.1126C>G (p.Gln376Glu) | |
3 | g.128485754G= | CA1400718923 | GATA2 | c.844C= (p.Gln282=) c.1126C= (p.Gln376=) | |
3 | g.128485754G>T | CA354405145 | GATA2 | c.844C>A (p.Gln282Lys) c.1126C>A (p.Gln376Lys) | |
3 | g.128485755C>A | CA354405149 | GATA2 | c.843G>T (p.Lys281Asn) c.1125G>T (p.Lys375Asn) | ClinVar dbSNP |
3 | g.128485755C= | CA1400718927 | GATA2 | c.843G= (p.Lys281=) c.1125G= (p.Lys375=) | |
3 | g.128485755C>G | CA354405148 | GATA2 | c.843G>C (p.Lys281Asn) c.1125G>C (p.Lys375Asn) | |
3 | g.128485755C>T | CA435510239 | GATA2 | c.843G>A (p.Lys281=) c.1125G>A (p.Lys375=) | |
3 | g.128485756T>A | CA354405150 | GATA2 | c.842A>T (p.Lys281Met) c.1124A>T (p.Lys375Met) | |
3 | g.128485756T>C | CA354405151 | GATA2 | c.842A>G (p.Lys281Arg) c.1124A>G (p.Lys375Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128485756T>G | CA354405152 | GATA2 | c.842A>C (p.Lys281Thr) c.1124A>C (p.Lys375Thr) | |
3 | g.128485757T>A | CA354405153 | GATA2 | c.841A>T (p.Lys281Ter) c.1123A>T (p.Lys375Ter) | |
3 | g.128485757T>C | CA354405154 | GATA2 | c.841A>G (p.Lys281Glu) c.1123A>G (p.Lys375Glu) | |
3 | g.128485757T>G | CA354405155 | GATA2 | c.841A>C (p.Lys281Gln) c.1123A>C (p.Lys375Gln) | gnomAD v4 |
3 | g.128485758del | CA2586965888 | GATA2 | c.840del (p.Lys281SerfsTer?) c.1122del (p.Lys375SerfsTer?) | |
3 | g.128485758A>C | CA435510242 | GATA2 | c.840T>G (p.Pro280=) c.1122T>G (p.Pro374=) | |
3 | g.128485758A>G | CA435510243 | GATA2 | c.840T>C (p.Pro280=) c.1122T>C (p.Pro374=) | |
3 | g.128485758A>T | CA435510244 | GATA2 | c.840T>A (p.Pro280=) c.1122T>A (p.Pro374=) | |
3 | g.128485758_128485759delinsAG | CA1400718929 | GATA2 | c.839_840delinsCT (p.Pro280=) c.1121_1122delinsCT (p.Pro374=) | |
3 | g.128485759G>A | CA354405157 | GATA2 | c.839C>T (p.Pro280Leu) c.1121C>T (p.Pro374Leu) | ClinVar |
3 | g.128485759G>C | CA354405159 | GATA2 | c.839C>G (p.Pro280Arg) c.1121C>G (p.Pro374Arg) | |
3 | g.128485759G>T | CA354405161 | GATA2 | c.839C>A (p.Pro280His) c.1121C>A (p.Pro374His) | |
3 | g.128485762dup | CA1400718933 | GATA2 | c.839dup (p.Lys281Ter) c.1121dup (p.Lys375Ter) | ClinVar dbSNP |
3 | g.128485762del | CA915941564 | GATA2 | c.839del (p.Pro280LeufsTer?) c.1121del (p.Pro374LeufsTer?) | ClinVar dbSNP |
3 | g.128485760G>A | CA354405162 | GATA2 | c.838C>T (p.Pro280Ser) c.1120C>T (p.Pro374Ser) | |
3 | g.128485760G>C | CA354405163 | GATA2 | c.838C>G (p.Pro280Ala) c.1120C>G (p.Pro374Ala) | |
3 | g.128485760G>T | CA354405165 | GATA2 | c.838C>A (p.Pro280Thr) c.1120C>A (p.Pro374Thr) | |
3 | g.128485761G>A | CA435510246 | GATA2 | c.837C>T (p.Thr279=) c.1119C>T (p.Thr373=) | gnomAD v4 |
3 | g.128485761G>C | CA435510247 | GATA2 | c.837C>G (p.Thr279=) c.1119C>G (p.Thr373=) | |
3 | g.128485761G>T | CA435510248 | GATA2 | c.837C>A (p.Thr279=) c.1119C>A (p.Thr373=) | ClinVar |
3 | g.128485762G>A | CA354405170 | GATA2 | c.836C>T (p.Thr279Ile) c.1118C>T (p.Thr373Ile) | |
3 | g.128485762G>C | CA354405167 | GATA2 | c.836C>G (p.Thr279Ser) c.1118C>G (p.Thr373Ser) | |
3 | g.128485762G= | CA1400718936 | GATA2 | c.836C= (p.Thr279=) c.1118C= (p.Thr373=) | |
3 | g.128485762G>T | CA354405169 | GATA2 | c.836C>A (p.Thr279Asn) c.1118C>A (p.Thr373Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485763T>A | CA2599953 | GATA2 | c.835A>T (p.Thr279Ser) c.1117A>T (p.Thr373Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128485763T>C | CA354405173 | GATA2 | c.835A>G (p.Thr279Ala) c.1117A>G (p.Thr373Ala) | |
3 | g.128485763T>G | CA354405175 | GATA2 | c.835A>C (p.Thr279Pro) c.1117A>C (p.Thr373Pro) | |
3 | g.128485763T= | CA1400718938 | GATA2 | c.835A= (p.Thr279=) c.1117A= (p.Thr373=) | |
3 | g.128485764G>A | CA435763726 | GATA2 | c.834C>T (p.Phe278=) c.1116C>T (p.Phe372=) | |
3 | g.128485764G>C | CA354405760 | GATA2 | c.834C>G (p.Phe278Leu) c.1116C>G (p.Phe372Leu) | |
3 | g.128485764G>T | CA354405762 | GATA2 | c.834C>A (p.Phe278Leu) c.1116C>A (p.Phe372Leu) | |
3 | g.128485765A>C | CA354405763 | GATA2 | c.833T>G (p.Phe278Cys) c.1115T>G (p.Phe372Cys) | |
3 | g.128485765A>G | CA354405765 | GATA2 | c.833T>C (p.Phe278Ser) c.1115T>C (p.Phe372Ser) | |
3 | g.128485765A>T | CA354405766 | GATA2 | c.833T>A (p.Phe278Tyr) c.1115T>A (p.Phe372Tyr) | |
3 | g.128485766A= | CA1400718944 | GATA2 | c.832T= (p.Phe278=) c.1114T= (p.Phe372=) | |
3 | g.128485766A>C | CA354405768 | GATA2 | c.832T>G (p.Phe278Val) c.1114T>G (p.Phe372Val) | |
3 | g.128485766A>G | CA354405770 | GATA2 | c.832T>C (p.Phe278Leu) c.1114T>C (p.Phe372Leu) | ClinVar gnomAD v4 |
3 | g.128485766A>T | CA354405771 | GATA2 | c.832T>A (p.Phe278Ile) c.1114T>A (p.Phe372Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485766_128485767delinsAG | CA1400718947 | GATA2 | c.831_832delinsCT (p.Ser277=) c.1113_1114delinsCT (p.Ser371=) | |
3 | g.128485767del | CA915941566 | GATA2 | c.831del (p.Phe278SerfsTer?) c.1113del (p.Phe372SerfsTer?) | ClinVar dbSNP |
3 | g.128485767G>A | CA435763736 | GATA2 | c.831C>T (p.Ser277=) c.1113C>T (p.Ser371=) | |
3 | g.128485767G>C | CA354405772 | GATA2 | c.831C>G (p.Ser277Arg) c.1113C>G (p.Ser371Arg) | |
3 | g.128485767G>T | CA354405773 | GATA2 | c.831C>A (p.Ser277Arg) c.1113C>A (p.Ser371Arg) | |
3 | g.128485768C>A | CA354405776 | GATA2 | c.830G>T (p.Ser277Ile) c.1112G>T (p.Ser371Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128485768C= | CA1400718957 | GATA2 | c.830G= (p.Ser277=) c.1112G= (p.Ser371=) | |
3 | g.128485768C>G | CA354405775 | GATA2 | c.830G>C (p.Ser277Thr) c.1112G>C (p.Ser371Thr) | |
3 | g.128485768C>T | CA354405774 | GATA2 | c.830G>A (p.Ser277Asn) c.1112G>A (p.Ser371Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.128485769T>A | CA354405777 | GATA2 | c.829A>T (p.Ser277Cys) c.1111A>T (p.Ser371Cys) | |
3 | g.128485769T>C | CA2599954 | GATA2 | c.829A>G (p.Ser277Gly) c.1111A>G (p.Ser371Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128485769T>G | CA354405779 | GATA2 | c.829A>C (p.Ser277Arg) c.1111A>C (p.Ser371Arg) | dbSNP |
3 | g.128485769T= | CA1400718962 | GATA2 | c.829A= (p.Ser277=) c.1111A= (p.Ser371=) | |
3 | g.128485770G>A | CA435763743 | GATA2 | c.828C>T (p.Ser276=) c.1110C>T (p.Ser370=) | |
3 | g.128485770G>C | CA435763744 | GATA2 | c.828C>G (p.Ser276=) c.1110C>G (p.Ser370=) | |
3 | g.128485770G>T | CA435763745 | GATA2 | c.828C>A (p.Ser276=) c.1110C>A (p.Ser370=) | |
3 | g.128485771G>A | CA354405788 | GATA2 | c.827C>T (p.Ser276Phe) c.1109C>T (p.Ser370Phe) | |
3 | g.128485771G>C | CA354405789 | GATA2 | c.827C>G (p.Ser276Cys) c.1109C>G (p.Ser370Cys) | |
3 | g.128485771G>T | CA354405790 | GATA2 | c.827C>A (p.Ser276Tyr) c.1109C>A (p.Ser370Tyr) | |
3 | g.128485772A>C | CA354405792 | GATA2 | c.826T>G (p.Ser276Ala) c.1108T>G (p.Ser370Ala) | |
3 | g.128485772A>G | CA354405794 | GATA2 | c.826T>C (p.Ser276Pro) c.1108T>C (p.Ser370Pro) | |
3 | g.128485772A>T | CA354405795 | GATA2 | c.826T>A (p.Ser276Thr) c.1108T>A (p.Ser370Thr) |