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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
88494947
T
C
missense_variant
MODERATE
ZNF469
c.1069T>C
chr16
88494824
G
A
missense_variant
MODERATE
ZNF469
c.946G>A
chr16
86602497
C
G
3_prime_UTR_variant
MODIFIER
FOXC2
c.*50C>G
chr16
56548501
C
T
missense_variant
MODERATE
BBS2
c.209G>A
chr16
56545175
T
C
missense_variant
MODERATE
BBS2
c.367A>G
chr16
56518660
G
A
3_prime_UTR_variant
MODIFIER
BBS2
c.*13C>T
chr16
51173559
G
A
synonymous_variant
LOW
SALL1
c.2574C>T
chr16
51171175
C
T
missense_variant
MODERATE
SALL1
c.3823G>A
chr16
46773999
C
A
missense_variant
MODERATE
MYLK3
c.538G>T
chr16
46764482
A
C
intron_variant
MODIFIER
MYLK3
c.1568+23T>G
chr16
46755213
C
G
intron_variant
MODIFIER
MYLK3
c.1915-108G>C
chr16
46743675
G
A
intron_variant
MODIFIER
MYLK3
c.2268-92C>T
chr16
30740142
T
C
intron_variant
MODIFIER
SRCAP
c.5659-145T>C
chr16
30735751
C
T
missense_variant
MODERATE
SRCAP
c.5006C>T
chr16
30734963
C
A
synonymous_variant
LOW
SRCAP
c.4218C>A
chr16
30732406
C
G
intron_variant
MODIFIER
SRCAP
c.3254-104C>G
chr16
30724070
G
T
synonymous_variant
LOW
SRCAP
c.2064G>T
chr16
30098189
GTGA
G
intron_variant
MODIFIER
TBX6
c.840-20_840-18delTCA
chr16
16315332
C
A
3_prime_UTR_variant
MODIFIER
ABCC6
c.*93G>T
chr16
16314091
G
T
intron_variant
MODIFIER
ABCC6
c.220-287C>A