Variants
85
AIP
1 variants
Q228K
c.682C>A
NM_003977.4
ASXL1
18 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
C730*
c.2190C>A
NM_015338.5
L743*
c.2226del
NM_015338.5
Q757*
c.2269C>T
NM_015338.5
S816Mfs*34
c.2351_2445dup
NM_015338.5
D855Ifs*12
c.2562del
NM_015338.5
L896Ffs*10
c.2687dup
NM_015338.5
S989*
c.2966_2967del
NM_015338.5
D1004*
c.3009dup
NM_015338.5
R1068*
c.3202C>T
NM_015338.5
D1127N
c.3379G>A
NM_015338.5
G1187S
c.3559G>A
NM_015338.5
N1309Kfs*20
c.3926dup
NM_015338.5
ATM
53 variants
Y67C
c.200A>G
NM_000051.4
?
c.497-6_497-4del
NM_000051.4
R337H
c.1010G>A
NM_000051.4
?
c.1066-30G>A
NM_000051.4
Q401*
c.1201C>T
NM_000051.4
F407dup
c.1219_1221dup
NM_000051.4
T452Nfs*21
c.1355del
NM_000051.4
R457L
c.1370G>T
NM_000051.3
F523L
c.1569C>A
NM_000051.4
F527L
c.1579T>C
NM_000051.4
T547=
c.1641C>T
NM_000051.4
M563R
c.1688T>G
NM_000051.4
F627C
c.1880T>G
NM_000051.4
R720Gfs*14
c.2158_2168del
NM_000051.4
Splice
c.2376+1G>T
NM_000051.4
Splice
c.2466+1G>T
NM_000051.4
G873E
c.2618G>A
NM_000051.4
G873E
c.2618G>A
NM_000051.4
I879T
c.2636T>C
NM_000051.4
?
c.2839-18dup
NM_000051.4
N1010=
c.3030C>T
NM_000051.4
?
c.3153+20del
NM_000051.4
Splice
c.3153+1G>T
NM_000051.4
?
c.3154-4G>T
NM_000051.4
?
c.3403-9C>A
NM_000051.4
Q1225_D1226delinsH
c.3675_3677del
NM_000051.4
K1253R
c.3758A>G
NM_000051.4
T1350M
c.4049C>T
NM_000051.4
Splice
c.4611+2T>C
NM_000051.4
?
c.4777-13T>A
NM_000051.4
T1735Nfs*14
c.5203dup
NM_000051.4
I1804F
c.5410A>T
NM_000051.4
F1837V
c.5509T>G
NM_000051.4
?
c.5675-13T>A
NM_000051.4
L1936*
c.5807T>G
NM_000051.4
C2159G
c.6475T>G
NM_000051.4
?
c.6808-11T>G
NM_000051.4
G2287E
c.6860G>A
NM_000051.4
Y2360D
c.7078T>G
NM_000051.4
?
c.7516-9del
NM_000051.4
Y2627C
c.7880A>G
NM_000051.4
D2721N
c.8161G>A
NM_000051.4
F2799Kfs*4
c.8395_8404del
NM_000051.4
E2818*
c.8452G>T
NM_000051.4
L2840=
c.8518T>C
NM_000051.4
L2840F
c.8520G>C
NM_000051.4
D2913Y
c.8737G>T
NM_000051.4
T2921=
c.8763G>T
NM_000051.4
Y2954C
c.8861A>G
NM_000051.4
D2999V
c.8996A>T
NM_000051.4
A3006T
c.9016G>A
NM_000051.4
M3011V
c.9031A>G
NM_000051.4
N3044S
c.9131A>G
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
8 variants
A58=
c.174G>A
NM_017745.5
T239N
c.716C>A
NM_017745.5
A303Pfs*75
c.907del
NM_017745.5
L1177=
c.3531G>A
NM_017745.5
?
c.3746-10C>T
NM_017745.5
P1401=
c.4203A>G
NM_017745.5
F1566Sfs*18
c.4697del
NM_017745.5
?
c.4874+4A>C
NM_017745.5
BCORL1
5 variants
M22I
c.66G>A
NM_021946.4
A301Gfs*118
c.901_902insGG
NM_021946.4
?
c.4305+16G>T
NM_021946.4
R1548W
c.4642C>T
NM_021946.4
G1682Rfs*4
c.5042dup
NM_021946.4
BRAF
1 variants
V600E
c.1799T>A
NM_004333.4
BRCA1
27 variants
?
c.80+5G>A
NM_007294.4
C61G
c.181T>G
NM_007294.3
E143*
c.427G>T
NM_007294.4
?
c.594-15G>C
NM_007294.4
W321*
c.962G>A
NM_007294.4
E575G
c.1724A>G
NM_007294.4
V660Sfs*41
c.1977del
NM_007294.4
D695N
c.2083G>A
NM_007294.4
N810Y
c.2428A>T
NM_007294.4
G928D
c.2783G>A
NM_007294.4
F989=
c.2967T>C
NM_007294.4
G1048D
c.3143G>A
NM_007294.4
E1161K
c.3481G>A
NM_007294.4
E1257Gfs*9
c.3770_3771del
NM_007294.4
L1306Dfs*23
c.3916_3917del
NM_007294.4
L1306Dfs*23
c.3916_3917del
NM_007294.4
Q1313R
c.3938A>G
NM_007294.4
Q1313R
c.3938A>G
NM_007294.4
F1316=
c.3948C>T
NM_007294.4
?
c.4358-22T>G
NM_007294.4
D1557H
c.4669G>C
NM_007294.4
A1599=
c.4797A>G
NM_007294.4
Y1716C
c.5147A>G
NM_007294.4
?
c.5278-22C>T
NM_007294.4
?
c.5332+15G>C
NM_007294.4
E1836K
c.5506G>A
NM_007294.4
?
c.-96G>C
NM_007294.4
BRCA2
50 variants
Y57=
c.171C>T
NM_000059.4
?
c.426-22G>T
NM_000059.4
Splice
c.516+1G>A
NM_000059.4
?
c.632-5T>C
NM_000059.4
E238_S239insR
c.714_716dup
NM_000059.4
D252H
c.754G>C
NM_000059.4
I332M
c.996T>G
NM_000059.4
S353=
c.1059A>G
NM_000059.4
L413Hfs*17
c.1238del
NM_000059.4
L413Hfs*17
c.1238del
NM_000059.4
K697T
c.2090A>C
NM_000059.4
S869L
c.2606C>T
NM_000059.4
V891A
c.2672T>C
NM_000059.4
Q1037=
c.3111A>G
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
N1344T
c.4031A>C
NM_000059.4
L1357=
c.4071A>C
NM_000059.4
G1523S
c.4567G>A
NM_000059.4
S1617N
c.4850G>A
NM_000059.4
R1704I
c.5111G>T
NM_000059.4
N1836K
c.5508T>G
NM_000059.4
S1882Kfs*26
c.5644_5647del
NM_000059.4
S1882Kfs*26
c.5644_5647del
NM_000059.4
L1908=
c.5722C>T
NM_000059.4
L1908Rfs*2
c.5722_5723del
NM_000059.4
L1908Rfs*2
c.5722_5723del
NM_000059.4
K1967*
c.5899A>T
NM_000059.4
L2092Pfs*7
c.6275_6276del
NM_000059.4
L2092Pfs*7
c.6275_6276del
NM_000059.4
D2242Ffs*2
c.6724_6725del
NM_000059.4
I2278S
c.6833T>G
NM_000059.4
R2520*
c.7558C>T
NM_000059.4
I2628R
c.7883T>G
NM_000059.4
I2752F
c.8254A>T
NM_000059.4
L2768H
c.8303T>A
NM_000059.4
?
c.8332-3C>G
NM_000059.4
D2819A
c.8456A>C
NM_000059.4
S2836C
c.8507C>G
NM_000059.4
R2896C
c.8686C>T
NM_000059.4
Q2960Hfs*15
c.8880_8883del
NM_000059.4
Q3037H
c.9111A>T
NM_000059.4
V3081A
c.9242T>C
NM_000059.4
?
c.9257-10del
NM_000059.4
L3101R
c.9302T>G
NM_000059.4
P3320A
c.9958C>G
NM_000059.4
K3408*
c.10222A>T
NM_000059.4
?
c.-39-14C>T
NM_000059.4
BRIP1
1 variants
G1247D
c.3740G>A
NM_032043.3
CALR
4 variants
Q365Rfs*50
c.1094_1139del
NM_004343.3
L367Tfs*2
c.1098_1099insA
NM_004343.3
E398D
c.1194G>T
NM_004343.3
?
c.*19C>T
NM_004343.3
CBL
6 variants
I383L
c.1147A>C
NM_005188.3
C384S
c.1150T>A
NM_005188.3
C396Y
c.1187G>A
NM_005188.3
C401Y
c.1202G>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
8 variants
M1?
c.1A>G
NM_004364.3(CEBPA)
M1?
c.2T>A
NM_004364.3
Y138F
c.413A>T
NM_004364.3
P188_S190delinsSHP
c.561_568delinsCTCGCACC
NM_004364.3
P188S
c.562C>T
NM_004364.3
P189H
c.566C>A
NM_004364.3
T310_Q311insL
c.929_930insTCT
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
CSF3R
1 variants
G825E
c.2474G>A
NM_156039.3
CTNNA1
1 variants
?
c.*13C>T
NM_001903.5
CTNNB1
20 variants
T3N
c.8C>A
NM_001904.4
Q92=
c.276G>A
NM_001904.4
G268*
c.802G>T
NM_001904.4
?
c.937-10_937-9del
NM_001904.4
K335I
c.1004A>T
NM_001904.4
?
c.1081+3A>C
NM_001904.4
L385=
c.1155C>A
NM_001904.4
N387K
c.1161T>A
NM_001904.4
?
c.1185+24C>A
NM_001904.4
G555=
c.1665G>A
NM_001904.4
?
c.1683+20G>A
NM_001904.4
R565H
c.1694G>A
NM_001904.4
H585=
c.1755C>T
NM_001904.4
?
c.1954+14A>G
NM_001904.4
T653=
c.1959A>G
NM_001904.4
Y654S
c.1961A>C
NM_001904.4
A689=
c.2067T>C
NM_001904.4
R717H
c.2150G>A
NM_001904.4
P749Q
c.2246C>A
NM_001904.4
N772D
c.2314A>G
NM_001904.4
CUX1
18 variants
T218Nfs*7
c.652dup
NM_001202543.1
S480G
c.1438A>G
NM_001202543.1
P538Rfs*39
c.1613_1614del
NM_001202543.1
R586W
c.1756C>T
NM_181500.2
P606=
c.1818A>G
NM_001202543.1
?
c.1967+26dup
NM_001913.3
H663Q
c.1989C>G
NM_181500.2
K969Rfs*6
c.2124_2904dup
NM_001202543.1
G804R
c.2410G>C
NM_001202543.1
F977=
c.2931C>T
NM_001202543.1
V1194L
c.3580G>C
NM_001202543.1
V1194I
c.3580G>A
NM_001202543.1
R1195Q
c.3584G>A
NM_001202543.1
R1223Q
c.3668G>A
NM_001202543.1
S1343=
c.4029C>T
NM_001202543.1
G1405D
c.4214G>A
NM_001202543.1
P1428=
c.4284C>T
NM_001202543.1
K1491=
c.4473G>A
NM_001202543.1
DAB1
1 variants
?
c.723+18415T>C
NM_001365792.1
DDX41
11 variants
L87H
c.260T>A
NM_016222.2
Splice
c.571+1G>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
G530D
c.1589G>A
NM_016222.2
DICER1
3 variants
?
c.1377-4T>G
NM_177438.3
T779=
c.2337A>G
NM_177438.3
?
c.4206+7_4206+8dup
NM_177438.3
DNMT3A
16 variants
E103_P106delinsKGSH
c.307_317delinsAAGGGGAGCCA
NM_022552.4
R143Q
c.428G>A
NM_022552.4
E228Kfs*88
c.682del
NM_022552.4
R288P
c.863G>C
NM_022552.4
V467Gfs*6
c.1399dup
NM_022552.4
E561Dfs*90
c.1683del
NM_022552.4
V622Ffs*29
c.1864del
NM_022552.4
R635W
c.1903C>T
NM_022552.4
S638C
c.1913C>G
NM_022552.4
P700Hfs*5
c.2099del
NM_022552.4
R736C
c.2206C>T
NM_022552.4
I769V
c.2305A>G
NM_022552.4
M801V
c.2401A>G
NM_022552.4
Splice
c.2479-1G>A
NM_022552.4
Q846Sfs*7
c.2536del
NM_022552.4
M880V
c.2638A>G
NM_022552.4
EGFR
1 variants
E709_T710delinsD
c.2127_2129del
NM_005228.5
ETV6
9 variants
E45Gfs*21
c.133dup
NM_001987.4
S47A
c.139T>G
NM_001987.4
K99Sfs*14
c.294_295insTCTC
NM_001987.4
Q143Afs*10
c.427_428del
NM_001987.4
R163Qfs*6
c.486dup
NM_001987.4
R191=
c.573G>T
NM_001987.4
P255=
c.765A>T
NM_001987.4
Y391C
c.1172A>G
NM_001987.4
?
c.-20G>C
NM_001987.4
EXT1
1 variants
P477=
c.1431C>T
NM_000127.3
EZH2
15 variants
D136V
c.407A>T
NM_004456.4
E148Nfs*2
c.442_450delinsAACTAAT
NM_004456.4
D184=
c.552T>C
NM_004456.4
D189del
c.552_554del
NM_004456.4
D185H
c.553G>C
NM_004456.4
D185=
c.555C>T
NM_004456.4
R207*
c.619C>T
NM_004456.4
D233G
c.698A>G
NM_004456.4
D293G
c.878A>G
NM_004456.4
H297R
c.890A>G
NM_004456.4
?
c.907+11A>G
NM_004456.4
?
c.1506-9T>G
NM_004456.4
S624F
c.1871C>T
NM_004456.4
R658G
c.1972A>G
NM_004456.4
R690C
c.2068C>T
NM_004456.4
FLII
1 variants
Q805R
c.2414A>G
NM_002018.3
FLT3
6 variants
M578_Y599dup
c.1732_1797dup
NM_004119.2
?
c.1750_1837+2dup
NM_004119.2
?
c.1756_1837+2dup
NM_004119.2
F590_Y591insAPVTGSSDNEYF
c.1770_1771insGCCCCAGTGACCGGCTCCTCAGATAATGAGTACTTC
NM_004119.2
E598delinsATLISENMK
c.1792_1793insCTACGTTGATTTCAGAGAATATGA
NM_004119.2
E598_Y599insTIDFREYE
c.1794_1795insACCATTGATTTCAGAGAATATGAA
NM_004119.2
FOXL2
1 variants
A328G
c.983C>G
NM_023067.4
GALNT12
1 variants
H101Q
c.303C>G
NM_024642.5
GATA2
7 variants
?
c.230-3C>G
NM_001145661.1
S129Pfs*57
c.380_383dup
NM_032638.5
D207Gfs*75
c.619dup
NM_001145661.1
D207Gfs*75
c.619dup
NM_001145661.1
P228=
c.684C>T
NM_001145661.1
C289=
c.867T>C
NM_001145661.1
?
c.1017+9G>A
NM_001145661.1
IDH2
1 variants
G144R
c.430G>C
NM_002168.2
JAK2
1 variants
H538_K539delinsL
c.1613_1616delinsT
NM_004972.3
KIT
4 variants
P34L
c.101C>T
NM_000222.2
Y95=
c.285C>T
NM_000222.2
S451P
c.1351T>C
NM_000222.2
I798=
c.2394C>T
NM_000222.3
KLLN
3 variants
R62G
c.184C>G
NM_001126049.2
?
c.-62A>C
NM_001126049.2
?
c.-921G>A
NM_001126049.2
KMT2A
13 variants
P103T
c.306_307delinsAA
NM_005933.3
S197Y
c.590C>A
NM_005933.3
K1029Rfs*65
c.3086del
NM_005933.3
E1060D
c.3180G>T
NM_005933.3
E1268K
c.3802G>A
NM_005933.3
S1388G
c.4162A>G
NM_005933.3
Q1490=
c.4470G>A
NM_005933.3
P1840S
c.5518C>T
NM_005933.3
T2260I
c.6779C>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
R3280Q
c.9839G>A
NM_005933.3
KRAS
16 variants
V8=
c.24A>G
NM_033360.2
G12C
c.34G>T
NM_033360.2
G12R
c.34G>C
NM_033360.2
G12D
c.35G>A
NM_033360.2
G12D
c.35G>A
NM_033360.2
E31=
c.93A>G
NM_033360.4
?
c.112-12C>T
NM_033360.4
A59T
c.175G>A
NM_033360.2
A59G
c.176C>G
NM_033360.2
G60D
c.179G>A
NM_004985.5
Q61L
c.182_183delinsTC
NM_033360.4
R68S
c.204G>C
NM_033360.4
V112=
c.336C>T
NM_033360.4
A146V
c.437C>T
NM_033360.4
?
c.451-22G>T
NM_033360.4
?
c.-9C>T
NM_033360.2
MAN2B1
1 variants
Y380*
c.1140C>G
NM_000528.4
MLH1
11 variants
R226*
c.676C>T
NM_000249.4
Splice
c.790+1G>A
NM_000249.4
V267Rfs*39
c.799_800del
NM_000249.4
M383T
c.1148T>C
NM_000249.4
L397Rfs*4
c.1190del
NM_000249.4
L397Rfs*4
c.1190del
NM_000249.4
A410=
c.1230C>T
NM_000249.4
S505Vfs*3
c.1513del
NM_000249.4
F530=
c.1590C>T
NM_000249.3
R659=
c.1977A>G
NM_000249.4
S695L
c.2084C>T
NM_000249.4
MPL
1 variants
W515K
c.1543_1544delinsAA
NM_005373.2
MSH2
21 variants
Y43C
c.128A>G
NM_000251.3
G68Cfs*16
c.202_203delinsT
NM_000251.3
G68V
c.203G>T
NM_000251.3
P69Rfs*15
c.204del
NM_000251.3
?
c.212-6_212-4del
NM_000251.3
?
c.366+35del
NM_000251.2
Splice
c.645+2T>A
NM_000251.3
E278*
c.832G>T
NM_000251.2
?
c.942+20_942+29del
NM_000251.3
?
c.942+19_942+29del
NM_000251.3
Q324*
c.970C>T
NM_000251.3
A327T
c.979G>A
NM_000251.2
T441Yfs*2
c.1320dup
NM_000251.2
R534Lfs*9
c.1601del
NM_000251.3
K537*
c.1609A>T
NM_000251.3
E561*
c.1681G>T
NM_000251.3
S743Ffs*7
c.2227dup
NM_000251.3
S743*
c.2228C>A
NM_000251.2
L814F
c.2440C>T
NM_000251.2
Q879*
c.2635C>T
NM_000251.2
L888M
c.2662C>A
NM_000251.2
MSH3
1 variants
?
c.2254-13G>T
NM_002439.5
MSH6
18 variants
W105*
c.315G>A
NM_000179.3
?
c.627+11G>A
NM_000179.3
T319=
c.957G>A
NM_000179.2
P399=
c.1197T>C
NM_000179.3
Q522Dfs*8
c.1564_1565del
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
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
F1088Sfs*2
c.3263del
NM_000179.3
T1142=
c.3426G>A
NM_000179.3
?
c.3557-6_3557-4del
NM_000179.3
Y1287delinsIN
c.3859delinsATTA
NM_000179.3
K1315N
c.3945G>T
NM_000179.3
MUTYH
1 variants
L4=
c.12C>A
NM_001128425.2
NRAS
4 variants
G12D
c.35G>A
NM_002524.4
L53=
c.157T>C
NM_002524.4
A59T
c.175G>A
NM_002524.4
A59D
c.176C>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
9 variants
R541=
c.1623G>A
NM_024675.4
K628_C630del
c.1882_1890del
NM_024675.4
P729Hfs*16
c.2185_2186insA
NM_024675.4
P758R
c.2273C>G
NM_024675.4
R825T
c.2474G>C
NM_024675.4
Q838E
c.2512C>G
NM_024675.4
C891=
c.2673C>T
NM_024675.4
?
c.3351-16_3351-14del
NM_024675.4
D1168Y
c.3502G>T
NM_024675.4
PHF6
7 variants
P11Lfs*22
c.27del
NM_001015877.1
Splice
c.139-1G>T
NM_001015877.1
N59S
c.176A>G
NM_001015877.1
?
c.417_418+1delinsCGA
NM_001015877.1
N316Y
c.946A>T
NM_001015877.1
H329R
c.986A>G
NM_001015877.1
E334*
c.1000G>T
NM_001015877.1
PIK3CA
52 variants
M1?
c.1A>G
NM_006218.4
R4_R19del
c.10_57del
NM_006218.4
M16T
c.47T>C
NM_006218.4
L62I
c.184C>A
NM_006218.4
R88L
c.263G>T
NM_006218.4
R93P
c.278G>C
NM_006218.4
L94P
c.281T>C
NM_006218.4
V101_I102delinsF
c.301_304delinsT
NM_006218.4
V105del
c.314_316del
NM_006218.4
E110_I112delinsD
c.330_335del
NM_006218.4
I112F
c.334A>T
NM_006218.4
?
c.353-6T>G
NM_006218.4
?
c.814-15C>G
NM_006218.4
I311V
c.931A>G
NM_006218.4
S323=
c.969T>A
NM_006218.4
N345D
c.1033A>G
NM_006218.4
R349*
c.1045C>T
NM_006218.4
D350Y
c.1048G>T
NM_006218.4
D350G
c.1049A>G
NM_006218.4
I391V
c.1171A>G
NM_006218.4
C407F
c.1220G>T
NM_006218.4
G411=
c.1233C>A
NM_006218.4
V448_G451del
c.1342_1353del
NM_006218.4
G460D
c.1379G>A
NM_006218.4
L473dup
c.1417_1419dup
NM_006218.4
P539R
c.1616C>G
NM_006218.4
E542V
c.1625A>T
NM_006218.4
?
c.1747-11C>A
NM_006218.4
N605D
c.1813A>G
NM_006218.4
Q634=
c.1902G>A
NM_006218.4
L648W
c.1943T>G
NM_006218.4
R662M
c.1985G>T
NM_006218.4
V706=
c.2118C>T
NM_006218.4
L719I
c.2155C>A
NM_006218.4
?
c.2188-7dupT
NM_006218.4
D746V
c.2237A>T
NM_006218.4
E849=
c.2547G>A
NM_006218.4
F909L
c.2727C>G
NM_006218.4
I910V
c.2728A>G
NM_006218.4
G914R
c.2740G>A
NM_006218.4
G927*
c.2779G>T
NM_006218.4
Q928*
c.2782C>T
NM_006218.4
Y985N
c.2953T>A
NM_006218.4
Q993H
c.2979G>T
NM_006218.4
A995=
c.2985C>T
NM_006218.4
L1001F
c.3001C>T
NM_006218.4
F1002L
c.3006C>A
NM_006218.4
Y1021C
c.3060_3062delinsGTG
NM_006218.4
R1023*
c.3067C>T
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
5 variants
S284=
c.852A>G
NM_000535.7
?
c.903+10A>T
NM_000535.7
V415M
c.1243G>A
NM_000535.7
L454=
c.1362G>A
NM_000535.7
L729Qfs*6
c.2186_2187del
NM_000535.7
POLD1
7 variants
R6W
c.16C>T
NM_002691.4
R218C
c.652C>T
NM_002691.4
V290M
c.868G>A
NM_002691.4
T504P
c.1510A>C
NM_002691.4
L518R
c.1553T>G
NM_002691.4
E729K
c.2185G>A
NM_002691.4
?
c.2388+5G>A
NM_002691.4
POLE
69 variants
?
c.63-11C>A
NM_006231.4
?
c.424-20G>A
NM_006231.4
?
c.424-21C>T
NM_006231.4
R150Q
c.449G>A
NM_006231.4
N151I
c.452A>T
NM_006231.4
W243R
c.727T>C
NM_006231.4
T258=
c.774C>T
NM_006231.4
R259=
c.777C>T
NM_006231.4
D275H
c.823G>C
NM_006231.4
P282=
c.846C>T
NM_006231.4
A399=
c.1197G>A
NM_006231.4
V419=
c.1257G>A
NM_006231.4
G420=
c.1260C>T
NM_006231.4
M444K
c.1331T>A
NM_006231.4
?
c.1360-13G>A
NM_006231.4
Y458N
c.1372T>A
NM_006231.4
?
c.1473+21C>T
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
Q572*
c.1714C>T
NM_006231.4
R579C
c.1735C>T
NM_006231.4
I603V
c.1807A>G
NM_006231.4
E701Q
c.2101G>C
NM_006231.4
R712C
c.2134C>T
NM_006231.4
R712L
c.2135G>T
NM_006231.4
Splice
c.2173+2T>G
NM_006231.4
S752=
c.2256C>A
NM_006231.4
?
c.2319+29C>T
NM_006231.4
F837S
c.2510T>C
NM_006231.4
?
c.2561+19C>T
NM_006231.4
M900V
c.2698A>G
NM_006231.4
?
c.2865-8_2865-4del
NM_006231.4
R975H
c.2924G>A
NM_006231.4
T998=
c.2994G>A
NM_006231.4
L1017=
c.3049C>T
NM_006231.4
A1072T
c.3214G>A
NM_006231.4
?
c.3275+10C>T
NM_006231.4
T1104=
c.3312G>A
NM_006231.4
?
c.3460-15G>A
NM_006231.4
P1164S
c.3490C>T
NM_006231.4
A1198=
c.3594C>T
NM_006231.4
A1224L
c.3670_3671delinsTT
NM_006231.4
K1232=
c.3696G>A
NM_006231.4
?
c.4005+6G>T
NM_006231.4
A1373T
c.4117G>A
NM_006231.4
?
c.4150-8C>A
NM_006231.4
P1389=
c.4167T>C
NM_006231.4
L1397F
c.4189C>T
NM_006231.4
N1412=
c.4236C>T
NM_006231.4
V1426I
c.4276G>A
NM_006231.4
?
c.4290+20C>T
NM_006231.4
?
c.4291-27G>C
NM_006231.4
S1483T
c.4448G>C
NM_006231.4
I1487=
c.4461C>A
NM_006231.4
F1500=
c.4500C>T
NM_006231.4
A1510V
c.4529_4530inv
NM_006231.4
?
c.4728+19T>A
NM_006231.4
Y1619C
c.4856A>G
NM_006231.4
R1634H
c.4901G>A
NM_006231.4
H1654Y
c.4960C>T
NM_006231.4
R1826W
c.5476C>T
NM_006231.4
A1883V
c.5648C>T
NM_006231.4
P2045=
c.6135C>T
NM_006231.4
?
c.6748-28G>T
NM_006231.4
?
c.6748-23A>T
NM_006231.4
Q2279=
c.6837G>A
NM_006231.4
?
c.*18G>T
NM_006231.4
PPM1D
7 variants
G61=
c.183C>T
NM_003620.3
?
c.1260+14T>C
NM_003620.3
F445I
c.1333T>A
NM_003620.3
F449Lfs*2
c.1347_1348delinsG
NM_003620.3
C478=
c.1434C>T
NM_003620.3
Q510*
c.1528C>T
NM_003620.3
L538*
c.1613del
NM_003620.3
PRKAR1A
1 variants
?
c.770-24G>A
NM_212471.3
PTCH1
1 variants
?
c.-6_-4dup
NM_000264.5
PTEN
146 variants
K6I
c.17A>T
NM_000314.8
I8Sfs*16
c.21del
NM_000314.8
K13*
c.37A>T
NM_000314.8
R15G
c.43A>G
NM_000314.8
R15I
c.44G>T
NM_000314.8
D24V
c.71A>T
NM_000314.8
L25S
c.74T>C
NM_000314.8
T26I
c.77C>T
NM_000314.8
Y27Vfs*17
c.78_79insG
NM_000314.8
Y27Lfs*17
c.79dup
NM_000314.8
?
c.80-27_80-11delinsT
NM_000314.8
Y29*
c.87T>A
NM_000314.8
G36R
c.106G>A
NM_000314.8
P38L
c.113C>T
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
L42P
c.125T>C
NM_000314.8
E43*
c.127G>T
NM_000314.8
Y46Rfs*7
c.132_135dup
NM_000314.8
Y46H
c.136T>C
NM_000314.8
R47G
c.139A>G
NM_000314.8
R47K
c.140G>A
NM_000314.8
N48Efs*4
c.141dup
NM_000314.8
N48S
c.143A>G
NM_000314.8
D52_R55delinsG
c.155_163del
NM_000314.8
V54Efs*2
c.159_160dup
NM_000314.8
?
c.164+29A>G
NM_000314.8
L57S
c.170T>C
NM_000314.8
L57Ffs*6
c.170dup
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
H64Lfs*35
c.191del
NM_000314.8
Y68Tfs*31
c.202del
NM_000314.8
N69Ifs*30
c.206del
NM_000314.8
?
c.209+6_209+8delinsGAA
NM_000314.8
?
c.209+6T>G
NM_000314.8
Splice
c.210-1_228delinsC
NM_000314.8
Splice
c.210-1G>T
NM_000314.8
Splice
c.210-1del
NM_000314.8
?
c.210-14A>G
NM_000314.8
Y76*
c.227_228del
NM_000314.8
Y76*
c.228T>G
NM_000314.8
?
c.253+5G>C
NM_000314.8
?
c.254-3del
NM_000314.8
P89Ffs*2
c.265_266del
NM_000314.8
P89H
c.266C>A
NM_000314.8
H93N
c.277C>A
NM_000314.8
P96L
c.287C>T
NM_000314.8
C105Vfs*8
c.309del
NM_000314.8
C105Vfs*8
c.313del
NM_000314.8
D115Efs*2
c.344dup
NM_000314.8
N117Kfs*9
c.350dup
NM_000314.8
A121P
c.361G>C
NM_000314.8
A121S
c.361G>T
NM_000314.8
A121T
c.361G>A
NM_000314.8
A121E
c.362C>A
NM_000314.8
H123Pfs*11
c.368del
NM_000314.8
A126S
c.376G>T
NM_000314.8
A126V
c.377C>T
NM_000314.8
G129Dfs*5
c.386del
NM_000314.8
R130*
c.388C>T
NM_000314.8
R130G
c.388C>G
NM_000314.8
V133E
c.398T>A
NM_000314.8
Y138Ffs*41
c.413_414del
NM_000314.8
H141D
c.421C>G
NM_000314.8
E150*
c.448G>T
NM_000314.8
R161Efs*6
c.480del
NM_000314.8
?
c.490_492+1del
NM_000314.8
G165*
c.493_496del
NM_000314.8
G165*
c.493_496del
NM_000314.8
Splice
c.493-1G>A
NM_000314.8
R172Sfs*11
c.516delG
NM_000314.8
R172S
c.516G>T
NM_000314.8
Y174Cfs*5
c.521_522del
NM_000314.8
V175A
c.524T>C
NM_000314.8
Y177Ffs*6
c.530del
NM_000314.8
L181Cfs*2
c.541del
NM_000314.8
L182Ffs*8
c.545dup
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
T210Lfs*11
c.628del
NM_000314.8
Splice
c.634+1del
NM_000314.8
?
c.634+4dup
NM_000314.8
Splice
c.634+2_634+3insGC
NM_000314.8
?
c.634+17C>T
NM_000314.8
Splice
c.635-1G>C
NM_000314.8
Splice
c.635-1G>A
NM_000314.8
Q214P
c.641A>C
NM_000314.8
K221Rfs*2
c.662del
NM_000314.8
R233Gfs*8
c.696_700del
NM_000314.8
E235*
c.703G>T
NM_000314.8
K237Sfs*19
c.710del
NM_000314.8
F243Lfs*15
c.724_728dup
NM_000314.8
P244Lfs*12
c.731del
NM_000314.8
L247S
c.740T>C
NM_000314.8
P248Lfs*6
c.743_749del
NM_000314.8
P248_V249delinsL
c.743_745del
NM_000314.8
G251V
c.752G>T
NM_000314.8
G251D
c.752G>A
NM_000314.8
F257Lfs*37
c.771_781del
NM_000314.8
K260Rfs*5
c.779_782del
NM_000314.8
K263*
c.786_787insT
NM_000314.8
Splice
c.801+1G>C
NM_000314.8
?
c.802-5_802-2del
NM_000314.8
?
c.802-18_802-17del
NM_000314.8
Splice
c.802-1G>T
NM_000314.8
D268Afs*8
c.803del
NM_000314.8
K269Nfs*28
c.807_808del
NM_000314.8
M270Cfs*6
c.808del
NM_000314.8
H272Qfs*16
c.816_873del
NM_000314.8
F279Ifs*15
c.827_834dup
NM_000314.8
N276K
c.828T>A
NM_000314.8
S287*
c.860C>G
NM_000314.8
E291D
c.873A>C
NM_000314.8
Q298Rfs*2
c.893_900del
NM_000314.8
Q298Hfs*9
c.894_895delinsC
NM_000314.8
I300Mfs*7
c.900del
NM_000314.8
I306*
c.916del
NM_000314.8
E307Rfs*5
c.918dup
NM_000314.8
N311Ifs*10
c.932_942del
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
D324Efs*17
c.972_981del
NM_000314.8
L325F
c.973C>T
NM_000314.8
L325P
c.974T>C
NM_000314.4
A328Qfs*16
c.981del
NM_000314.8
D331Rfs*12
c.990dup
NM_000314.8
D331Qfs*11
c.991_992del
NM_000314.8
K332*
c.994A>T
NM_000314.8
A333Pfs*11
c.996del
NM_000314.8
A333Efs*3
c.998_1017del
NM_000314.8
?
c.1026+18T>C
NM_000314.8
Splice
c.1026+2T>G
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
K344*
c.1030A>T
NM_000314.8
D371Efs*45
c.1113del
NM_000314.8
?
c.-533G>T
NM_000314.8
?
c.-533_-532delinsTT
NM_000314.8
?
c.*8T>G
NM_000314.8
?
c.-507dup
NM_000314.8
RAD21
6 variants
T144P
c.430A>C
NM_006265.2
E194=
c.582G>A
NM_006265.2
?
c.815-5del
NM_006265.2
D279V
c.836A>T
NM_006265.2
E315Qfs*9
c.943_946del
NM_006265.2
G575Sfs*2
c.1722_1723del
NM_006265.2
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
20 variants
C99del
c.296_298del
NM_001754.4
C99del
c.296_298del
NM_001754.4
S100F
c.299C>T
NM_001754.4
H105Rfs*18
c.312_313dup
NM_001754.4
W106Vfs*17
c.315_316insGT
NM_001754.4
?
c.351+3A>G
NM_001754.4
F158Lfs*13
c.474_489del
NM_001754.4
F163V
c.487T>G
NM_001754.4
V164Cfs*49
c.489dup
NM_001754.4
R166Q
c.497G>A
NM_001754.4
G170Vfs*9
c.501_508dup
NM_001754.4
G168R
c.502G>A
NM_001754.4
?
c.508+20T>C
NM_001754.4
Q185Sfs*34
c.529_551dup
NM_001754.4
R201Efs*10
c.597del
NM_001754.4
R237K
c.710G>A
NM_001754.4
?
c.967+15A>G
NM_001754.4
Y355*
c.1064dup
NM_001754.4
Q392=
c.1176G>A
NM_001754.4
S410*
c.1229C>A
NM_001754.4
SDHB
1 variants
R242C
c.724C>T
NM_003000.3
SETBP1
10 variants
E255=
c.765G>A
NM_015559.2
S294N
c.881G>A
NM_015559.2
K323=
c.969G>A
NM_015559.2
R498Q
c.1493G>A
NM_015559.2
K650=
c.1950G>A
NM_015559.2
S869T
c.2606G>C
NM_015559.2
H1100=
c.3300C>T
NM_015559.2
S1122C
c.3364A>T
NM_015559.2
A1193T
c.3577G>A
NM_015559.2
L1278=
c.3834G>C
NM_015559.2
SH2B3
7 variants
R43C
c.127C>T
NM_005475.2
M211V
c.631A>G
NM_005475.2
W262R
c.784T>C
NM_005475.2
R371T
c.1112G>C
NM_005475.2
R566Q
c.1697G>A
NM_005475.2
?
c.-314G>A
NM_005475.2
?
c.-113_-86del
NM_005475.2
SMARCA4
1 variants
R801H
c.2402G>A
NM_001128849.3
STAG2
17 variants
R184Tfs*6
c.549dup
NM_001042749.1
Y331*
c.993delinsGGAAAGC
NM_001042749.1
?
c.1018-11T>C
NM_001042749.1
A350V
c.1049C>T
NM_001042749.1
Y356Lfs*2
c.1066dup
NM_001042749.1
Y414Lfs*27
c.1240dupT
NM_001042749.1
R604=
c.1812A>G
NM_001042749.1
L734P
c.2201T>C
NM_001042749.1
?
c.2358+14A>T
NM_001042749.1
I794Nfs*15
c.2380dup
NM_001042749.1
S820*
c.2458_2459insAGGTCTCCCT
NM_001042749.1
G897=
c.2691A>T
NM_001042749.1
A916*
c.2745_2746del
NM_001042749.1
D1014E
c.3042C>G
NM_001042749.1
M1102T
c.3305T>C
NM_001042749.1
R1127Efs*9
c.3378dup
NM_001042749.1
E1135*
c.3402dup
NM_001042749.1
TET2
89 variants
P133Qfs*12
c.396del
NM_001127208.2
N140Cfs*6
c.418_419del
NM_001127208.2
A301Efs*2
c.877_901dupAGTGAGGCCTGTGATGCTGATGATG
NM_001127208.2
N303*
c.906dup
NM_001127208.2
L307Tfs*24
c.918dup
NM_001127208.2
A347=
c.1041G>A
NM_001127208.2
L371*
c.1112del
NM_001127208.2
Q373Rfs*15
c.1118_1122del
NM_001127208.2
P419Sfs*24
c.1254dup
NM_001127208.2
L431*
c.1292T>G
NM_001127208.2
S460F
c.1379C>T
NM_001127208.2
P474=
c.1422G>A
NM_001127208.2
E478*
c.1432G>T
NM_001127208.2
V498Sfs*5
c.1492_1493del
NM_001127208.2
V498Sfs*5
c.1492_1493del
NM_001127208.2
P570Sfs*12
c.1708_1709del
NM_001127208.2
P612Lfs*27
c.1835delC
NM_001127208.2
S631Cfs*6
c.1890_1896del
NM_001127208.2
H658Tfs*23
c.1971dup
NM_001127208.2
P732Tfs*22
c.2193dup
NM_001127208.2
E782Dfs*30
c.2346_2349del
NM_001127208.2
H786Mfs*27
c.2355del
NM_001127208.2
N789Tfs*13
c.2365_2366insC
NM_001127208.2
Q831Tfs*15
c.2490dup
NM_001127208.2
A855Cfs*17
c.2562dup
NM_001127208.2
Q939*
c.2815C>T
NM_001127208.2
Q943*
c.2827C>T
NM_001127208.2
Q962*
c.2884C>T
NM_001127208.2
P997Hfs*10
c.2990del
NM_001127208.2
N1000Kfs*6
c.3000_3003del
NM_001127208.2
T1007Sfs*25
c.3020_3023del
NM_001127208.2
Q1009*
c.3025C>T
NM_001127208.2
K1044Rfs*11
c.3131del
NM_001127208.2
G1060Afs*6
c.3179_3180delinsC
NM_001127208.2
E1106Kfs*9
c.3282_3315dup
NM_001127208.2
?
c.3410-4A>G
NM_001127208.2
N1156I
c.3467A>T
NM_001127208.2
R1161G
c.3481A>G
NM_001127208.2
R1167T
c.3500G>C
NM_001127208.2
?
c.3501-13G>A
NM_001127208.2
Splice
c.3501-1G>A
NM_001127208.2
I1175V
c.3523A>G
NM_001127208.2
S1203R
c.3609C>G
NM_001127208.2
L1209P
c.3626T>C
NM_001127208.2
L1244R
c.3731T>G
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
Splice
c.3803+1_3803+3del
NM_001127208.2
L1276Wfs*87
c.3825del
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
N1387S
c.4160A>G
NM_001127208.2
N1387Tfs*61
c.4160del
NM_001127208.2
G1391V
c.4172G>T
NM_001127208.2
T1393R
c.4178C>G
NM_001127208.2
K1409Nfs*39
c.4227del
NM_001127208.2
D1427Yfs*28
c.4258_4277dup
NM_001127208.2
L1420*
c.4259T>G
NM_001127208.2
E1436Q
c.4306G>C
NM_001127208.2
R1440Tfs*38
c.4317dup
NM_001127208.2
S1448N
c.4343G>A
NM_001127208.2
N1504=
c.4512C>T
NM_001127208.2
R1516*
c.4546C>T
NM_001127208.2
M1522Pfs*52
c.4564_4574del
NM_001127208.2
Q1529*
c.4585C>T
NM_001127208.2
Q1542Gfs*26
c.4624_4636delinsGGT
NM_001127208.2
Q1547*
c.4639C>T
NM_001127208.2
Q1654*
c.4960C>T
NM_001127208.2
Y1659Vfs*34
c.4974_4982delinsTG
NM_001127208.2
S1707Qfs*6
c.5114dup
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
S1848*
c.5543C>G
NM_001127208.2
I1859Mfs*28
c.5577del
NM_001127208.2
G1860W
c.5578G>T
NM_001127208.2
K1877Sfs*10
c.5630del
NM_001127208.2
H1881Q
c.5643T>G
NM_001127208.2
R1891G
c.5671A>G
NM_001127208.2
Y1902Tfs*6
c.5704del
NM_001127208.2
Q1903*
c.5707C>T
NM_001127208.2
K1905*
c.5712dup
NM_001127208.2
?
c.-51T>G
NM_001127208.2
?
c.-47+2dup
NM_001127208.2
TP53
69 variants
?
c.97-11C>G
NM_000546.6
W53*
c.159G>A
NM_000546.6
A69V
c.206C>T
NM_000546.6
P72Rfs*51
c.215_216delinsG
NM_000546.6
P72R
c.215_216delinsGT
NM_000546.6
P72R
c.215C>G
NM_000546.6
V73Rfs*76
c.216dup
NM_000546.6
P72=
c.216C>T
NM_000546.6
P82=
c.246G>A
NM_000546.5
P82=
c.246G>T
NM_000546.6
Y103*
c.309C>G
NM_000546.6
T125M
c.374C>T
NM_000546.5
Splice
c.375+2T>G
NM_000546.6
T125=
c.375G>C
NM_000546.6
T125=
c.375G>A
NM_000546.6
Y126D
c.376T>G
NM_000546.6
P128Lfs*42
c.383del
NM_000546.6
K132_C141delinsNMFCQLAKTS
c.396_421delinsTATGTTTTGCCAACTGGCCAAGACCA
NM_000546.6
C141S
c.421T>A
NM_000546.6
Q144*
c.430C>T
NM_000546.5
P152Afs*14
c.454_466del
NM_000546.6
Y163del
c.487_489del
NM_000546.6
V172F
c.514G>T
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
V197M
c.589G>A
NM_000546.5
E198*
c.592G>T
NM_000546.6
L201*
c.602T>A
NM_000546.5
R213Q
c.638G>A
NM_000546.5
E224G
c.671A>G
NM_000546.6
Splice
c.672+1G>A
NM_000546.6
Y234C
c.701A>G
NM_000546.6
C242F
c.725G>T
NM_000546.6
G244C
c.730G>T
NM_000546.6
G245D
c.734G>A
NM_000546.6
R248G
c.742C>G
NM_000546.5
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
N263Hfs*82
c.787_795delinsCATCTACT
NM_000546.6
L265R
c.794T>G
NM_000546.6
V272M
c.814G>A
NM_000546.5
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
D281_R282insQ
c.844_845insAAC
NM_000546.5
R283C
c.847C>T
NM_000546.5
E285K
c.853G>A
NM_000546.5
K292*
c.874A>T
NM_000546.6
G293W
c.877G>T
NM_000546.6
E294*
c.880G>T
NM_000546.6
R306Q
c.917G>A
NM_000546.6
Splice
c.920-1dup
NM_000546.6
Q317K
c.949C>A
NM_000546.6
Y327*
c.981T>A
NM_000546.6
R333C
c.997C>T
NM_000546.6
F338L
c.1012T>C
NM_000546.6
E343Q
c.1027G>C
NM_000546.5
K351N
c.1053G>T
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
3 variants
P91L
c.272C>T
NM_000548.5
?
c.5068+9G>A
NM_000548.5
I1702=
c.5106C>T
NM_000548.5
WRAP53
1 variants
?
c.-1-992G>C
NM_001143990.1