Variants
69
AIP
1 variants
Q228K
c.682C>A
NM_003977.4
ASXL1
11 variants
H630Pfs*4
c.1887_1888del
NM_015338.5
I641Mfs*15
c.1923_1927del
NM_015338.5
G646Wfs*12
c.1934dupG
NM_015338.5
G645Vfs*58
c.1934del
NM_015338.5
A671S
c.2011G>T
NM_015338.5
A671S
c.2011G>T
NM_015338.5
Q757*
c.2269C>T
NM_015338.5
D855Ifs*12
c.2562del
NM_015338.5
L896Ffs*10
c.2687dup
NM_015338.5
D1004*
c.3009dup
NM_015338.5
N1309Kfs*20
c.3926dup
NM_015338.5
ATM
16 variants
R337H
c.1010G>A
NM_000051.4
T452Nfs*21
c.1355del
NM_000051.4
R457L
c.1370G>T
NM_000051.3
F527L
c.1579T>C
NM_000051.4
T547=
c.1641C>T
NM_000051.4
F627C
c.1880T>G
NM_000051.4
R720Gfs*14
c.2158_2168del
NM_000051.4
G873E
c.2618G>A
NM_000051.4
G873E
c.2618G>A
NM_000051.4
K1253R
c.3758A>G
NM_000051.4
I1804F
c.5410A>T
NM_000051.4
L1936*
c.5807T>G
NM_000051.4
G2287E
c.6860G>A
NM_000051.4
Y2360D
c.7078T>G
NM_000051.4
E2818*
c.8452G>T
NM_000051.4
A3006T
c.9016G>A
NM_000051.4
AXIN2
4 variants
P50S
c.148C>T
NM_004655.4
P455_P462=
c.1365_1386delinsGGGCGTAGGCCGCTATAGCCCT
NM_004655.4
P455=
c.1365A>G
NM_004655.4
P462=
c.1386C>T
NM_004655.4
BCOR
4 variants
T239N
c.716C>A
NM_017745.5
A303Pfs*75
c.907del
NM_017745.5
F1566Sfs*18
c.4697del
NM_017745.5
?
c.4874+4A>C
NM_017745.5
BCORL1
3 variants
M22I
c.66G>A
NM_021946.4
A301Gfs*118
c.901_902insGG
NM_021946.4
G1682Rfs*4
c.5042dup
NM_021946.4
BRAF
1 variants
V600E
c.1799T>A
NM_004333.4
BRCA1
9 variants
C61G
c.181T>G
NM_007294.3
E575G
c.1724A>G
NM_007294.4
D695N
c.2083G>A
NM_007294.4
G928D
c.2783G>A
NM_007294.4
L1306Dfs*23
c.3916_3917del
NM_007294.4
L1306Dfs*23
c.3916_3917del
NM_007294.4
F1316=
c.3948C>T
NM_007294.4
Y1716C
c.5147A>G
NM_007294.4
?
c.-96G>C
NM_007294.4
BRCA2
10 variants
E238_S239insR
c.714_716dup
NM_000059.4
S869L
c.2606C>T
NM_000059.4
V1166D
c.3497T>A
NM_000059.4
I1275T
c.3824T>C
NM_000059.4
V1283Kfs*2
c.3847_3848del
NM_000059.4
V1283Kfs*2
c.3847_3848del
NM_000059.4
G1523S
c.4567G>A
NM_000059.4
S1617N
c.4850G>A
NM_000059.4
L1908=
c.5722C>T
NM_000059.4
?
c.-39-14C>T
NM_000059.4
BRIP1
1 variants
G1247D
c.3740G>A
NM_032043.3
CALR
1 variants
E398D
c.1194G>T
NM_004343.3
CBL
5 variants
I383L
c.1147A>C
NM_005188.3
C384S
c.1150T>A
NM_005188.3
C396Y
c.1187G>A
NM_005188.3
E412_K424dup
c.1235_1273dup
NM_005188.3
N454D
c.1360A>G
NM_005188.3
CDC73
1 variants
?
c.1066+51C>T
NM_024529.5
CDH1
1 variants
N405S
c.1214A>G
NM_004360.5
CDKN2A
1 variants
E61=
c.183G>A
NM_000077.5
CEBPA
3 variants
M1?
c.1A>G
NM_004364.3(CEBPA)
M1?
c.2T>A
NM_004364.3
?
c.-90C>T
NM_004364.3
CHEK2
3 variants
D162G
c.485A>G
NM_007194.4
E239K
c.715G>A
NM_007194.3
R474H
c.1421G>A
NM_007194.4
CTNNB1
5 variants
G268*
c.802G>T
NM_001904.4
?
c.937-10_937-9del
NM_001904.4
?
c.1683+20G>A
NM_001904.4
H585=
c.1755C>T
NM_001904.4
P749Q
c.2246C>A
NM_001904.4
CUX1
5 variants
S480G
c.1438A>G
NM_001202543.1
G804R
c.2410G>C
NM_001202543.1
V1194L
c.3580G>C
NM_001202543.1
R1195Q
c.3584G>A
NM_001202543.1
K1491=
c.4473G>A
NM_001202543.1
DDX41
9 variants
L87H
c.260T>A
NM_016222.2
I215V
c.643A>G
NM_016222.2
S217*
c.650_662del
NM_016222.2
P321R
c.962C>G
NM_016222.2
R323C
c.967C>T
NM_016222.2
D344E
c.1032C>G
NM_016222.2
S363del
c.1088_1090del
NM_016222.2
?
c.1099-16C>G
NM_016222.2
?
c.1399+10G>A
NM_016222.2
DNMT3A
4 variants
E103_P106delinsKGSH
c.307_317delinsAAGGGGAGCCA
NM_022552.4
R635W
c.1903C>T
NM_022552.4
S638C
c.1913C>G
NM_022552.4
Splice
c.2479-1G>A
NM_022552.4
EGFR
1 variants
E709_T710delinsD
c.2127_2129del
NM_005228.5
EPCAM
1 variants
Q45=
c.135A>G
NM_002354.3
ETV6
5 variants
S47A
c.139T>G
NM_001987.4
Q143Afs*10
c.427_428del
NM_001987.4
R191=
c.573G>T
NM_001987.4
P255=
c.765A>T
NM_001987.4
?
c.-20G>C
NM_001987.4
EXT1
1 variants
P477=
c.1431C>T
NM_000127.3
KLLN
1 variants
?
c.-62A>C
NM_001126049.2
KMT2A
6 variants
E1268K
c.3802G>A
NM_005933.3
S1388G
c.4162A>G
NM_005933.3
P1840S
c.5518C>T
NM_005933.3
S2806L
c.8417C>T
NM_005933.3
Q3103=
c.9309A>G
NM_005933.3
P3124S
c.9370C>T
NM_005933.3
KRAS
6 variants
V8=
c.24A>G
NM_033360.2
G12C
c.34G>T
NM_033360.2
G12D
c.35G>A
NM_033360.2
G12D
c.35G>A
NM_033360.2
?
c.112-12C>T
NM_033360.4
?
c.-9C>T
NM_033360.2
MLH1
4 variants
M383T
c.1148T>C
NM_000249.4
L397Rfs*4
c.1190del
NM_000249.4
L397Rfs*4
c.1190del
NM_000249.4
R659=
c.1977A>G
NM_000249.4
MPL
1 variants
W515K
c.1543_1544delinsAA
NM_005373.2
MSH2
4 variants
Y43C
c.128A>G
NM_000251.3
?
c.212-6_212-4del
NM_000251.3
Splice
c.645+2T>A
NM_000251.3
?
c.942+20_942+29del
NM_000251.3
MSH3
1 variants
?
c.2254-13G>T
NM_002439.5
MSH6
9 variants
W105*
c.315G>A
NM_000179.3
W628*
c.1884G>A
NM_000179.3
I944V
c.2830A>G
NM_000179.3
G963=
c.2889C>T
NM_000179.3
R1035Q
c.3104G>A
NM_000179.3
W1047*
c.3141G>A
NM_000179.3
?
c.3173-12C>T
NM_000179.3
F1088Lfs*5
c.3261dup
NM_000179.3
?
c.3557-6_3557-4del
NM_000179.3
NPM1
1 variants
W288Cfs*12
c.863_864insTCGG
NM_002520.6
NRAS
3 variants
G12D
c.35G>A
NM_002524.4
L53=
c.157T>C
NM_002524.4
A59T
c.175G>A
NM_002524.4
NUDT15
1 variants
Q144Lfs*4
c.430_431insT
NM_018283.4
PAH
1 variants
?
c.1200-95T>C
NM_000277.3
PALB2
3 variants
K628_C630del
c.1882_1890del
NM_024675.4
P729Hfs*16
c.2185_2186insA
NM_024675.4
P758R
c.2273C>G
NM_024675.4
PHF6
4 variants
Splice
c.139-1G>T
NM_001015877.1
?
c.417_418+1delinsCGA
NM_001015877.1
N316Y
c.946A>T
NM_001015877.1
E334*
c.1000G>T
NM_001015877.1
PIK3CA
18 variants
R93P
c.278G>C
NM_006218.4
V105del
c.314_316del
NM_006218.4
?
c.814-15C>G
NM_006218.4
S323=
c.969T>A
NM_006218.4
R349*
c.1045C>T
NM_006218.4
D350G
c.1049A>G
NM_006218.4
G411=
c.1233C>A
NM_006218.4
G460D
c.1379G>A
NM_006218.4
P539R
c.1616C>G
NM_006218.4
Q634=
c.1902G>A
NM_006218.4
?
c.2188-7dupT
NM_006218.4
D746V
c.2237A>T
NM_006218.4
Q993H
c.2979G>T
NM_006218.4
L1001F
c.3001C>T
NM_006218.4
Y1021C
c.3060_3062delinsGTG
NM_006218.4
T1025A
c.3073A>G
NM_006218.4
T1025N
c.3074C>A
NM_006218.4
*1069Wext*4
c.3207A>G
NM_006218.4
PMS2
3 variants
S284=
c.852A>G
NM_000535.7
V415M
c.1243G>A
NM_000535.7
L729Qfs*6
c.2186_2187del
NM_000535.7
POLD1
3 variants
R6W
c.16C>T
NM_002691.4
V290M
c.868G>A
NM_002691.4
?
c.2388+5G>A
NM_002691.4
POLE
30 variants
?
c.424-20G>A
NM_006231.4
R150Q
c.449G>A
NM_006231.4
T258=
c.774C>T
NM_006231.4
R259=
c.777C>T
NM_006231.4
P282=
c.846C>T
NM_006231.4
V419=
c.1257G>A
NM_006231.4
G420=
c.1260C>T
NM_006231.4
M444K
c.1331T>A
NM_006231.4
Y458N
c.1372T>A
NM_006231.4
T528=
c.1584G>A
NM_006231.4
Y539=
c.1617C>T
NM_006231.4
?
c.1687-22C>T
NM_006231.4
A565=
c.1695C>T
NM_006231.4
R579C
c.1735C>T
NM_006231.4
R712L
c.2135G>T
NM_006231.4
?
c.2865-8_2865-4del
NM_006231.4
L1017=
c.3049C>T
NM_006231.4
A1072T
c.3214G>A
NM_006231.4
P1164S
c.3490C>T
NM_006231.4
K1232=
c.3696G>A
NM_006231.4
P1389=
c.4167T>C
NM_006231.4
N1412=
c.4236C>T
NM_006231.4
?
c.4291-27G>C
NM_006231.4
S1483T
c.4448G>C
NM_006231.4
F1500=
c.4500C>T
NM_006231.4
?
c.4728+19T>A
NM_006231.4
Y1619C
c.4856A>G
NM_006231.4
A1883V
c.5648C>T
NM_006231.4
P2045=
c.6135C>T
NM_006231.4
?
c.6748-28G>T
NM_006231.4
PRKAR1A
1 variants
?
c.770-24G>A
NM_212471.3
PTCH1
1 variants
?
c.-6_-4dup
NM_000264.5
PTEN
55 variants
I8Sfs*16
c.21del
NM_000314.8
?
c.80-27_80-11delinsT
NM_000314.8
G36R
c.106G>A
NM_000314.8
L42R
c.125T>G
NM_000314.8
L42Rfs*10
c.125_143delinsGTGAAGGCCGTATACAGGAG
NM_000314.8
L42_N48delinsREGVYRS
c.125_143delinsGTGAAGGCGTATACAGGAG
NM_000314.8
R47K
c.140G>A
NM_000314.8
N48S
c.143A>G
NM_000314.8
?
c.164+29A>G
NM_000314.8
S59P
c.175T>C
NM_000314.8
H61L
c.182A>T
NM_000314.8
K62_H64del
c.184_192del
NM_000314.8
?
c.209+6_209+8delinsGAA
NM_000314.8
P96L
c.287C>T
NM_000314.8
C105Vfs*8
c.309del
NM_000314.8
C105Vfs*8
c.313del
NM_000314.8
A121E
c.362C>A
NM_000314.8
G129Dfs*5
c.386del
NM_000314.8
R130*
c.388C>T
NM_000314.8
Y138Ffs*41
c.413_414del
NM_000314.8
R161Efs*6
c.480del
NM_000314.8
G165*
c.493_496del
NM_000314.8
G165*
c.493_496del
NM_000314.8
R172Sfs*11
c.516delG
NM_000314.8
R172S
c.516G>T
NM_000314.8
V175A
c.524T>C
NM_000314.8
N184Efs*6
c.548dup
NM_000314.4
Y188Sfs*6
c.563_585del
NM_000314.8
P204A
c.610C>G
NM_000314.8
Splice
c.634+1del
NM_000314.8
?
c.634+4dup
NM_000314.8
Splice
c.635-1G>C
NM_000314.8
Q214P
c.641A>C
NM_000314.8
K237Sfs*19
c.710del
NM_000314.8
P248Lfs*6
c.743_749del
NM_000314.8
K260Rfs*5
c.779_782del
NM_000314.8
K263*
c.786_787insT
NM_000314.8
D268Afs*8
c.803del
NM_000314.8
F279Ifs*15
c.827_834dup
NM_000314.8
N276K
c.828T>A
NM_000314.8
Q298Hfs*9
c.894_895delinsC
NM_000314.8
I300Mfs*7
c.900del
NM_000314.8
L316Qfs*5
c.947del
NM_000314.8
L316delinsQYLL*
c.947_962delinsAGTACTTACTTTAACA
NM_000314.8
L320Nfs*4
c.958_959del
NM_000314.8
L325P
c.974T>C
NM_000314.4
D331Rfs*12
c.990dup
NM_000314.8
D331Qfs*11
c.991_992del
NM_000314.8
K332*
c.994A>T
NM_000314.8
?
c.1026+18T>C
NM_000314.8
Splice
c.1027-1G>A
NM_000314.4
Splice
c.1027-1G>C
NM_000314.8
Splice
c.1027-2A>G
NM_000314.8
?
c.-533G>T
NM_000314.8
?
c.-533_-532delinsTT
NM_000314.8
RAD51D
4 variants
R165W
c.493C>T
NM_002878.4
R165W
c.493C>T
NM_002878.4
S207P
c.619T>C
NM_002878.4
S257=
c.771C>T
NM_002878.4(RAD51D)
RECQL4
14 variants
E44=
c.132A>G
NM_004260.4
E267D
c.738_801delinsTATCCGTGTGGGGAGCCCCCAGCCCAGCAGCAGTGGAGGCGAGAAGCGGAGATGGAACGAGGAC
NM_004260.4
E267D
c.801G>C
NM_004260.4
?
c.1258+18G>A
NM_004260.4
?
c.1621-15C>T
NM_004260.4
R766Gfs*77
c.2296del
NM_004260.4
R766Gfs*77
c.2296del
NM_004260.4
R1005Q
c.3014G>A
NM_004260.4
L1043=
c.3127T>C
NM_004260.4
?
c.3236+13C>T
NM_004260.4
?
c.3393+9A>G
NM_004260.4
?
c.3393+8C>T
NM_004260.4
?
c.3393+8_3393+9inv
NM_004260.4
?
c.3502+24G>A
NM_004260.4
RNF43
1 variants
A365T
c.1093G>A
NM_017763.6
RUNX1
10 variants
S100F
c.299C>T
NM_001754.4
?
c.351+3A>G
NM_001754.4
F163V
c.487T>G
NM_001754.4
V164Cfs*49
c.489dup
NM_001754.4
G168R
c.502G>A
NM_001754.4
?
c.508+20T>C
NM_001754.4
R201Efs*10
c.597del
NM_001754.4
?
c.967+15A>G
NM_001754.4
Q392=
c.1176G>A
NM_001754.4
S410*
c.1229C>A
NM_001754.4
SETBP1
3 variants
S294N
c.881G>A
NM_015559.2
S1122C
c.3364A>T
NM_015559.2
L1278=
c.3834G>C
NM_015559.2
SF3B1
1 variants
G740E
c.2219G>A
NM_012433.2
SH2B3
1 variants
W262R
c.784T>C
NM_005475.2
SRSF2
1 variants
L21Q
c.62T>A
NM_003016.4
STAG2
6 variants
R184Tfs*6
c.549dup
NM_001042749.1
?
c.1018-11T>C
NM_001042749.1
Y414Lfs*27
c.1240dupT
NM_001042749.1
G897=
c.2691A>T
NM_001042749.1
D1014E
c.3042C>G
NM_001042749.1
R1127Efs*9
c.3378dup
NM_001042749.1
TET2
38 variants
A301Efs*2
c.877_901dupAGTGAGGCCTGTGATGCTGATGATG
NM_001127208.2
Q373Rfs*15
c.1118_1122del
NM_001127208.2
L431*
c.1292T>G
NM_001127208.2
P474=
c.1422G>A
NM_001127208.2
E478*
c.1432G>T
NM_001127208.2
P570Sfs*12
c.1708_1709del
NM_001127208.2
P612Lfs*27
c.1835delC
NM_001127208.2
H658Tfs*23
c.1971dup
NM_001127208.2
P997Hfs*10
c.2990del
NM_001127208.2
N1000Kfs*6
c.3000_3003del
NM_001127208.2
R1161G
c.3481A>G
NM_001127208.2
?
c.3501-13G>A
NM_001127208.2
I1175V
c.3523A>G
NM_001127208.2
L1209P
c.3626T>C
NM_001127208.2
T1251Rfs*18
c.3748_3751dup
NM_001127208.2
Y1255*
c.3765C>G
NM_001127208.2
N1260Ifs*6
c.3777del
NM_001127208.2
G1288V
c.3863G>T
NM_001127208.2
C1289Y
c.3866G>A
NM_001127208.2
K1308Sfs*55
c.3921delG
NM_001127208.2
M1333Wfs*30
c.3996del
NM_001127208.2
T1372_F1377dup
c.4114_4131dup
NM_001127208.2
T1393R
c.4178C>G
NM_001127208.2
D1427Yfs*28
c.4258_4277dup
NM_001127208.2
L1420*
c.4259T>G
NM_001127208.2
S1448N
c.4343G>A
NM_001127208.2
N1504=
c.4512C>T
NM_001127208.2
M1522Pfs*52
c.4564_4574del
NM_001127208.2
Q1547*
c.4639C>T
NM_001127208.2
Q1654*
c.4960C>T
NM_001127208.2
N1743Kfs*5
c.5229_5245delinsACG
NM_001127208.2
S1791Pfs*29
c.5371del
NM_001127208.2
N1805Tfs*15
c.5414del
NM_001127208.2
S1820Vfs*13
c.5458del
NM_001127208.2
I1859Mfs*28
c.5577del
NM_001127208.2
G1860W
c.5578G>T
NM_001127208.2
Y1902Tfs*6
c.5704del
NM_001127208.2
?
c.-51T>G
NM_001127208.2
TP53
33 variants
W53*
c.159G>A
NM_000546.6
P82=
c.246G>A
NM_000546.5
Splice
c.375+2T>G
NM_000546.6
Y126D
c.376T>G
NM_000546.6
P128Lfs*42
c.383del
NM_000546.6
Y163del
c.487_489del
NM_000546.6
C176R
c.526T>C
NM_000546.5
H179N
c.535C>A
NM_000546.6
?
c.559+9C>G
NM_000546.6
I195Yfs*14
c.582dup
NM_000546.6
E198*
c.592G>T
NM_000546.6
R213Q
c.638G>A
NM_000546.5
G245D
c.734G>A
NM_000546.6
I251F
c.751A>T
NM_000546.5
I255N
c.764T>A
NM_000546.5
?
c.783-6_814del
NM_000546.6
N263D
c.787A>G
NM_000546.6
R273H
c.818G>A
NM_000546.5
C275Ffs*70
c.824_826delinsTT
NM_000546.6
C275F
c.824G>T
NM_000546.5
P278S
c.832C>T
NM_000546.6
P278R
c.833C>G
NM_000546.5
R280Efs*65
c.834_835delinsA
NM_000546.5
R283C
c.847C>T
NM_000546.5
K292*
c.874A>T
NM_000546.6
G293W
c.877G>T
NM_000546.6
Q317K
c.949C>A
NM_000546.6
R333C
c.997C>T
NM_000546.6
F338L
c.1012T>C
NM_000546.6
R379H
c.1136G>A
NM_000546.6
?
c.*9A>G
NM_000546.6
?
c.-29+94T>G
NM_000546.6
?
c.-29+131G>T
NM_000546.6
TSC2
1 variants
P91L
c.272C>T
NM_000548.5
U2AF1
1 variants
R119L
c.356G>T
NM_006758.2
WRAP53
1 variants
?
c.-1-992G>C
NM_001143990.1
ZRSR2
1 variants
Y271C
c.812A>G
NM_005089.3