Search
DNA splice site: *
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Gene name:
ABCD1
ADAMTS13
ALDOB
ALG3
APOB
ATM
ATP7A
ATR
BRCA1
BTK
BTNL2
CD40L
CDH1
CDH23
CDKN2A
CFTR
CHRNE
CLN6
COL11A2
COL1A1
COL1A2
COL3A1
COL4A5
COL7A1
COLQ
CUL4B
CYBA
CYP27A1
DBT
DMD
EDA
ELA2
ENG
EPB41
EVC
F5
F7
F9
FAH
FANCA
FBN1
FGA
FGB
FGFR2
FLNA
FRAS1
GALC
GALT
GBA
GH1
GHR
GLA
GNAT2
GUSB
HADHB
HBA1
HBA2
HBB
HCN2
HEXA
HEXB
HLA-A
HMBS
HPRT1
HSD11B2
HSPG2
IDS
IGHG2
INS
IRF5
ITGAIIb
ITGB3
JAK3
KRIT1
L1CAM
LAMB3
LDLR
LGMD2B
LMNA
MCCB
MCFD2
MCOLN1
MDR3
MLH1
MR
MRP2
MSH2
MUT
MUTYH
MVK
NF1
NF2
OAT
OC116
PCCB
PDS
PFKM
PKD2
PRDM1
PRKAR1A
PROS1
PTEN
PTHR1
RB1
RUNX1
SCN5A
SGCB
SLC12A3
SLC35A1
SNF5
SOST
SPTA1
TAZ
TCIRG1
TP53
VDR
VHL
WASP
WISP3
WT1
XPA
ZDHHC9
(Sample: gene name:ABCD1, mutant type G>A.)
Mutant type:
A>C
A>G
A>T
AA>GT
C>A
C>G
C>T
DELETION
DUPLICATION
G>A
G>C
G>T
INSERTION
T>A
T>C
T>G