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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
56548501
C
T
BBS2
c.209G>A
p.Ser70Asn
rs4784677
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
16271357
T
C
ABCC6
c.2542A>G
p.Met848Val
rs6416668
chr16
15820863
C
T
MYH11
c.3721G>A
p.Ala1241Thr
rs16967494
chr16
2165437
T
A
PKD1
c.2039A>T
p.Tyr680Phe
rs370141157
chr16
2164808
C
T
PKD1
c.2216G>A
p.Arg739Gln
rs40433
chr16
1634385
C
T
IFT140
c.1192G>A
p.Val398Ile
rs34762152
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
rs200021459;~rs56192595
chr15
90294306
C
CACGGGGCTCGG
MESP1
c.156_157insCCGAGCCCCGT
p.Ala53fs
~rs71934166
chr15
90294304
C
CG
MESP1
c.158dupC
p.Ser54fs
~rs71934166
chr15
90191827
T
C
KIF7
c.1102A>G
p.Thr368Ala
rs8037349
chr15
49090175
G
A
CEP152
c.161C>T
p.Ser54Leu
rs2289181
chr15
49054772
C
A
CEP152
c.2378G>T
p.Ser793Ile
rs2289178
chr15
48807637
C
T
FBN1
c.1415G>A
p.Cys472Tyr
rs4775765
chr15
48779530
G
C
FBN1
c.3442C>G
p.Pro1148Ala
rs140598
chr15
23086364
GGCC
G
NIPA1
c.45_47delGGC
p.Ala16del
rs531550505
chr14
102568367
T
A
HSP90AA1
c.211A>T
p.Met71Leu
rs8005905
chr14
96922752
C
G
AK7
c.1167C>G
p.Asn389Lys
rs2369679