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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr18
59821949
G
A
intron_variant
MODIFIER
PIGN
c.443-65C>T
chr18
59814324
G
C
missense_variant
MODERATE
PIGN
c.685C>G
chr18
59814268
G
A
synonymous_variant
LOW
PIGN
c.741C>T
chr18
59807635
T
C
intron_variant
MODIFIER
PIGN
c.1023+18A>G
chr18
59807608
G
GT
intron_variant
MODIFIER
PIGN
c.1023+44_1023+45insA
chr18
59806190
C
T
intron_variant
MODIFIER
PIGN
c.1116+26G>A
chr18
59805532
T
C
splice_acceptor_variant&intron_variant
HIGH
PIGN
c.1117-1A>G
chr18
59780393
T
A
missense_variant
MODERATE
PIGN
c.1408A>T
chr18
59777011
T
C
intron_variant
MODIFIER
PIGN
c.1574+56A>G
chr18
59751715
T
C
intron_variant
MODIFIER
PIGN
c.2502+49A>G
chr18
57147392
G
T
intron_variant
MODIFIER
CCBE1
c.265+26C>A
chr18
57147390
C
G
intron_variant
MODIFIER
CCBE1
c.265+28G>C
chr18
57147351
G
A
intron_variant
MODIFIER
CCBE1
c.265+67C>T
chr18
57147251
A
G
intron_variant
MODIFIER
CCBE1
c.265+167T>C
chr18
57134152
A
G
intron_variant
MODIFIER
CCBE1
c.401-29T>C
chr18
57133862
T
A
intron_variant
MODIFIER
CCBE1
c.553+109A>T
chr18
57115133
T
C
intron_variant
MODIFIER
CCBE1
c.775+82A>G
chr18
57107212
C
T
intron_variant
MODIFIER
CCBE1
c.776-164G>A
chr18
57106728
C
T
intron_variant
MODIFIER
CCBE1
c.951+47G>A
chr18
48610382
G
GCACA
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5574_*5577dupCACA