Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
56548501
C
T
missense_variant
BBS2
c.209G>A
p.Ser70Asn
chr16
56545175
T
C
missense_variant
BBS2
c.367A>G
p.Ile123Val
chr16
54967096
C
A
missense_variant
IRX5
c.763C>A
p.Pro255Thr
chr16
51171175
C
T
missense_variant
SALL1
c.3823G>A
p.Val1275Ile
chr16
46773999
C
A
missense_variant
MYLK3
c.538G>T
p.Val180Leu
chr16
16281007
A
G
missense_variant
ABCC6
c.1841T>C
p.Val614Ala
chr16
16278863
G
T
missense_variant
ABCC6
c.1896C>A
p.His632Gln
chr16
16271357
T
C
missense_variant
ABCC6
c.2542A>G
p.Met848Val
chr16
16251599
C
T
missense_variant
ABCC6
c.3803G>A
p.Arg1268Gln
chr16
15865545
T
C
missense_variant
MYH11
c.935A>G
p.Asn312Ser
chr16
2164808
C
T
missense_variant
PKD1
c.2216G>A
p.Arg739Gln
chr16
2144182
G
A
missense_variant
PKD1
c.10529C>T
p.Thr3510Met
chr16
1569934
C
T
missense_variant
IFT140
c.3988G>A
p.Ala1330Thr
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
disruptive_inframe_deletion
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
p.Gly187_Gln194del
chr15
90196008
C
T
missense_variant
KIF7
c.154G>A
p.Asp52Asn
chr15
90191827
T
C
missense_variant
KIF7
c.1102A>G
p.Thr368Ala
chr15
48807637
C
T
missense_variant
FBN1
c.1415G>A
p.Cys472Tyr
chr15
23086364
GGCC
G
disruptive_inframe_deletion
NIPA1
c.45_47delGGC
p.Ala16del
chr14
102568367
T
A
missense_variant
HSP90AA1
c.211A>T
p.Met71Leu
chr14
96922752
C
G
missense_variant
AK7
c.1167C>G
p.Asn389Lys