NeoVar
ANALYSIS
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Single variant
Protein
O14678-1.1
ABCD4
P11310-1.1
ACADM
P16219-1.1
ACADS
P45954-1.1
ACADSB
P49748-1.1
ACADVL
P24752-1.1
ACAT1
Q4G176-1.3
ACSF3
P05089-1.2
ARG1
P04424-1.4
ASL
P00966-1.2
ASS1
P12694-1.2
BCKDHA
P21953-1.2
BCKDHB
P43251-1.2
BTD
P35520-1.2
CBS
P13569-1.3
CFTR
P50416-1.2
CPT1A
Q92523-1.2
CPT1B
Q8TCG5-1.1
CPT1C
P23786-1.2
CPT2
P15538-1.5
CYP11B1
P05093-1.1
CYP17A1
P08686-1.1
CYP21A2
P11182-1.3
DBT
P13804-1.1
ETFA
P38117-1.3
ETFB
Q16134-1.2
ETFDH
P16930-1.2
FAH
P07902-1.3
GALT
Q92947-1.1
GCDH
P40939-1.2
HADHA
P55084-1.3
HADHB
P68871-1.2
HBB
P51610-1.2
HCFC1
P35914-1.2
HMGCL
P32754-1.2
HPD
P26439-1.2
HSD3B2
P26440-1.1
IVD
Q96RQ3-1.3
MCCC1
Q9HCC0-1.1
MCCC2
O95822-1.3
MLYCD
Q8IVH4-1.1
MMAA
Q96EY8-1.1
MMAB
Q9Y4U1-1.3
MMACHC
Q9H3L0-1.2
MMADHC
P42898-1.3
MTHFR
P22033-1.4
MUT
P00439-1.1
PAH
Q06710-1.2
PAX8
P05165-1.4
PCCA
P05166-1.3
PCCB
O76082-1.1
SLC22A5
Q9UJS0-1.2
SLC25A13
O43772-1.1
SLC25A20
P17735-1.1
TAT
P01137-1.2
TGFB1
P16473-1.2
TSHR
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)
CFTR H620Q MMAA L89P
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