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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
156087348
C
T
intron_variant
MODIFIER
SGCD
c.575+12802C>T
chr5
156074654
TAAATTGA
T
intron_variant
MODIFIER
SGCD
c.575+109_575+115delAAATTGA
chr5
156021881
T
G
intron_variant
MODIFIER
SGCD
c.383-61T>G
chr5
156016201
T
A
intron_variant
MODIFIER
SGCD
c.295-40T>A
chr5
155885469
T
C
intron_variant
MODIFIER
SGCD
c.193-50142T>C
chr5
153856974
C
G
intron_variant
MODIFIER
HAND1
c.543+52G>C
chr5
140503531
C
T
missense_variant
MODERATE
PCDHB4
c.1951C>T
chr5
140503443
C
G
synonymous_variant
LOW
PCDHB4
c.1863C>G
chr5
140503237
A
G
missense_variant
MODERATE
PCDHB4
c.1657A>G
chr5
140502841
G
A
missense_variant
MODERATE
PCDHB4
c.1261G>A
chr5
140502177
G
A
synonymous_variant
LOW
PCDHB4
c.597G>A
chr5
127685135
C
T
missense_variant
MODERATE
FBN2
c.2893G>A
chr5
127671924
A
G
intron_variant
MODIFIER
FBN2
c.3599-119T>C
chr5
127640861
A
G
intron_variant
MODIFIER
FBN2
c.5675-87T>C
chr5
127640783
G
A
intron_variant
MODIFIER
FBN2
c.5675-9C>T
chr5
127625665
A
G
intron_variant
MODIFIER
FBN2
c.6446-26T>C
chr5
127623205
C
T
intron_variant
MODIFIER
FBN2
c.6758-83G>A
chr5
127623170
A
G
intron_variant
MODIFIER
FBN2
c.6758-48T>C
chr5
127622609
G
GT
intron_variant
MODIFIER
FBN2
c.6881-69_6881-68insA
chr5
127622491
T
C
missense_variant
MODERATE
FBN2
c.6931A>G