ProteinSpecific
ANALYSIS
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Single variant
Protein
P78363-1.3
ABCA4
O95255-1.2
ABCC6
Q09428-1.6
ABCC8
P33897-1.2
ABCD1
P68133-1.1
ACTA1
P10275-1.3
AR
P15289-1.3
ARSA
P04424-1.4
ASL
P00966-1.2
ASS1
P35670-1.4
ATP7B
O76090-1.1
BEST1
Q06187-1.3
BTK
P20807-1.2
CAPN3
P41180-1.3
CASR
Q9H251-1.2
CDH23
P13569-1.3
CFTR
Q16281-1.2
CNGA3
P02452-1.5
COL1A1
P08123-1.7
COL1A2
P02458-2.3
COL2A1
P02461-1.4
COL3A1
P29400-1.2
COL4A5
Q02388-1.2
COL7A1
P31327-1.2
CPS1
P82279-1.2
CRB1
P04839-1.2
CYBB
P08686-1.1
CYP21A2
P03951-1.1
F11
P00451-1.1
F8
P35555-1.3
FBN1
P11362-1.3
FGFR1
P21802-1.1
FGFR2
P10253-1.4
GAA
Q92947-1.1
GCDH
P08034-1.1
GJB1
P06280-1.1
GLA
P08397-1.2
HMBS
P00492-1.2
HPRT1
P22304-1.1
IDS
P35475-1.2
IDUA
P78504-1.3
JAG1
Q12809-1.1
KCNH2
P02545-1.1
LMNA
O75197-1.2
LRP5
O00255-1.4
MEN1
P40692-1.1
MLH1
P25189-1.1
MPZ
P43246-1.1
MSH2
Q13496-1.2
MTM1
P22033-1.4
MUT
Q14896-1.4
MYBPC3
P12883-1.5
MYH7
Q13402-1.2
MYO7A
Q99972-1.2
MYOC
P21359-1.2
NF1
Q9UM47-1.2
NOTCH3
O15118-1.2
NPC1
O60500-1.1
NPHS1
O60313-1.3
OPA1
P00480-1.3
OTC
P00439-1.1
PAH
P08F94-1.1
PKHD1
P60201-1.2
PLP1
P54098-1.1
POLG
P50336-1.1
PPOX
P07225-1.1
PROS1
P49768-1.1
PSEN1
Q06124-1.2
PTPN11
P07949-1.3
RET
P08100-1.1
RHO
O15537-1.2
RS1
P21817-1.3
RYR1
P35498-1.2
SCN1A
Q14524-1.2
SCN5A
P51688-1.1
SGSH
P55017-1.3
SLC12A3
O43511-1.1
SLC26A4
P17405-1.4
SMPD1
Q9UBP0-1.1
SPAST
P22735-1.4
TGM1
P49815-1.2
TSC2
O75445-1.3
USH2A
Native amino acid
A - Ala
C - Cys
D - Asp
E - Glu
F - Phe
G - Gly
H - His
I - Ile
K - Lys
L - Leu
M - Met
N - Asn
P - Pro
Q - Gln
R - Arg
S - Ser
T - Thr
V - Val
W - Trp
Y - Tyr
Residue
Mutated amino acid
A - Ala
C - Cys
D - Asp
E - Glu
F - Phe
G - Gly
H - His
I - Ile
K - Lys
L - Leu
M - Met
N - Asn
P - Pro
Q - Gln
R - Arg
S - Ser
T - Thr
V - Val
W - Trp
Y - Tyr
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Multiple variants
List of variants
(max. 500)
CYBB H209Y F8 V99D
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