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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
88504868
A
G
ZNF469
c.10906A>G
p.Thr3636Ala
rs904783
chr16
88504850
G
C
ZNF469
c.10888G>C
p.Glu3630Gln
rs1105066
chr16
88502505
A
G
ZNF469
c.8543A>G
p.His2848Arg
rs1983014
chr16
88501971
T
A
ZNF469
c.8009T>A
p.Leu2670Gln
rs3812956
chr16
88501034
G
C
ZNF469
c.7072G>C
p.Gly2358Arg
rs12598474
chr16
88498221
C
T
ZNF469
c.4259C>T
p.Pro1420Leu
rs4782300
chr16
88497446
A
G
ZNF469
c.3484A>G
p.Lys1162Glu
rs7197071
chr16
88496277
C
G
ZNF469
c.2399C>G
p.Ala800Gly
.
chr16
88495407
G
C
ZNF469
c.1529G>C
p.Gly510Ala
rs7199961
chr16
88494976
A
C
ZNF469
c.1098A>C
p.Arg366Ser
rs11640794
chr16
88494947
T
C
ZNF469
c.1069T>C
p.Ser357Pro
rs11648572
chr16
56548501
C
T
BBS2
c.209G>A
p.Ser70Asn
rs4784677
chr16
56545175
T
C
BBS2
c.367A>G
p.Ile123Val
rs11373
chr16
54967096
C
A
IRX5
c.763C>A
p.Pro255Thr
rs13336114
chr16
51171175
C
T
SALL1
c.3823G>A
p.Val1275Ile
rs4614723
chr16
46773999
C
A
MYLK3
c.538G>T
p.Val180Leu
rs28407821
chr16
16281007
A
G
ABCC6
c.1841T>C
p.Val614Ala
rs12931472
chr16
16278863
G
T
ABCC6
c.1896C>A
p.His632Gln
rs8058694
chr16
16271357
T
C
ABCC6
c.2542A>G
p.Met848Val
rs6416668
chr16
16251599
C
T
ABCC6
c.3803G>A
p.Arg1268Gln
rs2238472