Nt change
|
Aa change
|
Exon position
|
Variation type
|
Zygosity
|
Domain
|
Severity
|
Country
|
Ref
|
---|
c.16A>G
|
p.R6G
|
4
|
Missense
|
Homo/Hetero
|
N-terminal
|
ND
|
China
|
[33]
|
c.329C>T
|
p.A110V
|
4
|
Missense
|
Homo
|
DBD
|
S to P
|
Pakistan
|
[25]
|
c.499G>A
|
p.G167R
|
5
|
Missense
|
Homo
|
DBD
|
S to P
|
Iran
|
This study
|
c.733G>C
|
p.D245H
|
7
|
Missense
|
Homo
|
LBD
|
M to S
|
Pakistan
|
[31]
|
c.872G>T
|
p.R291L
|
8
|
Missense
|
Homo
|
LBD
|
P
|
The Cz.Rep
|
[32]
|
c.913T>C
|
p.Y305H
|
8
|
Missense
|
Homo
|
LBD
|
P
|
Tunisia
|
[28]
|
c.959T>C
|
p.L320P
|
8
|
Missense
|
Homo
|
LBD
|
S to P
|
Pakistan
|
[25]
|
c.1018_1020delGAG
|
p.E340del
|
8
|
Frame-shift
|
Homo
|
LBD
|
S to P
|
Pakistan
|
[30]
|
c.1018_1024dupGAGTTTG
|
p.V342GfsX44
|
8
|
Frame-shift
|
Homo
|
LBD
|
S to P
|
Turkey
|
[25]
|
c.1024G>T
|
p.V342L
|
8
|
Missense
|
Homo
|
LBD
|
S to P
|
Pakistan
|
[25]
|
c.1040T>C
|
p.L347P
|
8
|
Missense
|
Homo
|
LBD
|
S to P
|
Pakistan
|
[25]
|
c.1144C>T
|
p.R382C
|
9
|
Missense
|
ND
|
LBD
|
ND
|
China
|
[34]
|
c.1166C>T
|
p.T389M
|
9
|
Missense
|
Hetero
|
LBD
|
ND
|
Turkey
|
[25]
|
c.1058-3C>A
|
p.D353GfsX6
|
Donor site of exon 9
|
Splice site
|
ND
|
LBD
|
ND
|
The UAE
|
[35]
|
- Nt nucleotide, AA amino acid, Homo homozygous, Hetero heterozygous, S severe, P profound, M moderate, ND not determined, DBD DNA-binding domain, LBD ligand-binding domain, UAE United Arab Emirates, CZ.Rep Czech Republic