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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr14
102548224
T
C
intron_variant
MODIFIER
HSP90AA1
c.2456-66A>G
chr14
96922752
C
G
missense_variant
MODERATE
AK7
c.1167C>G
chr14
96916232
G
GT
intron_variant
MODIFIER
AK7
c.948+16_948+17insT
chr14
96909025
A
G
intron_variant
MODIFIER
AK7
c.691-42A>G
chr14
96864309
A
G
intron_variant
MODIFIER
AK7
c.106-103A>G
chr14
92413725
G
A
5_prime_UTR_variant
MODIFIER
FBLN5
c.-152C>T
chr14
92409333
T
C
intron_variant
MODIFIER
FBLN5
c.18-28A>G
chr14
92408689
G
C
intron_variant
MODIFIER
FBLN5
c.72+562C>G
chr14
92347680
A
G
synonymous_variant
LOW
FBLN5
c.945T>C
chr14
92343764
C
T
intron_variant
MODIFIER
FBLN5
c.1185+67G>A
chr14
92336775
T
C
intron_variant
MODIFIER
FBLN5
c.1186-46A>G
chr14
76549752
G
A
intron_variant
MODIFIER
IFT43
c.523-49G>A
chr14
76548783
GGACCTT
G
intron_variant
MODIFIER
IFT43
c.383+74_383+79delGACCTT
chr14
76488551
A
G
intron_variant
MODIFIER
IFT43
c.148-119A>G
chr14
70496919
CT
C
intron_variant
MODIFIER
SMOC1
c.1292-39delT
chr14
70496867
C
T
intron_variant
MODIFIER
SMOC1
c.1292-92C>T
chr14
70490264
A
G
intron_variant
MODIFIER
SMOC1
c.1291+100A>G
chr14
70478183
C
A
intron_variant
MODIFIER
SMOC1
c.858-19C>A
chr14
70478176
C
T
intron_variant
MODIFIER
SMOC1
c.858-26C>T
chr14
70478173
CA
C
intron_variant
MODIFIER
SMOC1
c.858-28delA