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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
56545175
T
C
BBS2
c.367A>G
p.Ile123Val
rs11373
chr16
51175658
T
C
SALL1
c.475A>G
p.Ser159Gly
rs13336129
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
2164808
C
T
PKD1
c.2216G>A
p.Arg739Gln
rs40433
chr16
2152468
G
T
PKD1
c.9115C>A
p.Arg3039Ser
rs200522524
chr16
2144182
G
A
PKD1
c.10529C>T
p.Thr3510Met
rs45478794
chr16
1634385
C
T
IFT140
c.1192G>A
p.Val398Ile
rs34762152
chr16
1573890
G
A
IFT140
c.3209C>T
p.Ala1070Val
rs2235638
chr15
90320134
AGGGCAGGGGCAG
A
MESP2
c.558_569delGGGGCAGGGGCA
p.Gly187_Gln190del
rs199821487
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
rs200021459;~rs56192595
chr15
90294306
C
G
MESP1
c.157G>C
p.Ala53Pro
rs6496598
chr15
90293794
G
C
MESP1
c.669C>G
p.Phe223Leu
rs2305440
chr15
90196008
C
T
KIF7
c.154G>A
p.Asp52Asn
rs8179065
chr15
90191827
T
C
KIF7
c.1102A>G
p.Thr368Ala
rs8037349
chr15
90176073
C
A
KIF7
c.2873G>T
p.Ser958Ile
rs3803530
chr15
90174940
G
C
KIF7
c.2897C>G
p.Ala966Gly
.
chr15
90174824
C
T
KIF7
c.3013G>A
p.Gly1005Arg
rs12900805
chr15
74473739
C
T
STRA6
c.1698G>A
p.Met566Ile
rs736118