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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr16
15820863
C
T
MYH11
c.3721G>A
p.Ala1241Thr
rs16967494
chr16
3831230
G
T
CREBBP
c.1651C>A
p.Leu551Ile
rs61753381
chr16
2164808
C
T
PKD1
c.2216G>A
p.Arg739Gln
rs40433
chr16
1616201
C
T
IFT140
c.1862G>A
p.Arg621Gln
rs11648609
chr16
1573890
G
A
IFT140
c.3209C>T
p.Ala1070Val
rs2235638
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
rs200021459;~rs56192595
chr15
90196008
C
T
KIF7
c.154G>A
p.Asp52Asn
rs8179065
chr15
90191827
T
C
KIF7
c.1102A>G
p.Thr368Ala
rs8037349