Family |
Patient ID |
GENE |
Transcript |
Nucleotide change |
AA change |
Variant Classification#
|
VAF (%) |
Family1 |
ID1 |
None |
/ |
/ |
/ |
/ |
/ |
|
ID2 |
NA |
/ |
/ |
/ |
/ |
/ |
Family2 |
ID3 |
DDX41 |
NM_016222.4 |
c.1574G>A |
p.R525H |
Pathogenic |
7.95 |
|
|
JAK2 |
NM_004972.3 |
c.1849G>T |
&p.V617F |
Pathogenic |
3.56 |
|
|
DNMT3A |
NM_175629.2 |
c.2330C>A |
p.P777H |
Likely pathogenic |
10.58 |
|
ID4 |
NA |
/ |
/ |
/ |
/ |
/ |
Family3 |
ID5 |
ASXL1 |
NM_015338.6 |
c.1249C>T |
&p.R417* |
Pathogenic |
13.88 |
|
|
RAD50 |
NM_005732.4 |
c.2801delA |
p.N934Ifs*6 |
Pathogenic |
13.16 |
|
|
TET2 |
NM_001127208.2 |
c.5163delG |
&p.L1721Ffs*24 |
Likely pathogenic |
17.83 |
|
|
IGFN1 |
NM_001164586.2 |
c.6746A>G |
p.D2249G |
VUS |
12.64 |
|
ID6 |
IDH2 |
NM_002168.4 |
c.515G>A |
p.R172K |
Pathogenic |
36.86 |
Family4 |
ID7 |
SF3B1 |
NM_012433.3 |
c.2098A>G |
&p.K700E |
Pathogenic |
34.19 |
|
|
TET2 |
NM_001127208.2 |
c.1696G>T |
&p.E566* |
Likely pathogenic |
29.56 |
|
|
ETV6 |
NM_001987.4 |
c.472_473delGT |
&p.V158Pfs*10 |
Likely pathogenic |
16.59 |
|
|
GATA2 |
NM_032638.4 |
c.968A>C |
p.H323P |
VUS |
31.71 |
|
|
FGFR3 |
NM_000142.4 |
c.1900G>A |
p.A634T |
VUS |
5.35 |
|
|
BRCA2 |
NM_000059.3 |
c.4634T>C |
p.L1545P |
VUS |
5.09 |
|
ID8 |
SF3B1 |
NM_012433.3 |
c.2098A>G |
p.K700E |
Pathogenic |
31.74 |
|
|
IDH2 |
NM_002168.3 |
c.419G>A |
&p.R140Q |
Pathogenic |
11.64 |
|
|
IDH1 |
NM_005896.3 |
c.395G>A |
p.R132H |
Pathogenic |
2.38 |