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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr14
96949743
C
T
intron_variant
MODIFIER
AK7
c.1974+187C>T
chr14
96922752
C
G
missense_variant
MODERATE
AK7
c.1167C>G
chr14
96916232
GT
G
intron_variant
MODIFIER
AK7
c.948+17delT
chr14
96916228
C
T
intron_variant
MODIFIER
AK7
c.948+12C>T
chr14
96871104
G
A
missense_variant
MODERATE
AK7
c.305G>A
chr14
96864309
A
G
intron_variant
MODIFIER
AK7
c.106-103A>G
chr14
92413042
A
G
intron_variant
MODIFIER
FBLN5
c.17+515T>C
chr14
92406339
C
T
intron_variant
MODIFIER
FBLN5
c.124+570G>A
chr14
92403590
C
G
intron_variant
MODIFIER
FBLN5
c.125-45G>C
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
70480281
G
A
intron_variant
MODIFIER
SMOC1
c.1046+73G>A
chr14
70480215
T
A
splice_region_variant&intron_variant
LOW
SMOC1
c.1046+7T>A