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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr18
59805532
T
C
splice_acceptor_variant&intron_variant
HIGH
PIGN
c.1117-1A>G
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
59739962
T
TA
splice_region_variant&intron_variant
LOW
PIGN
c.2620-5_2620-4insT
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
57136943
G
A
intron_variant
MODIFIER
CCBE1
c.266-104C>T
chr18
57136902
C
A
intron_variant
MODIFIER
CCBE1
c.266-63G>T
chr18
57136869
A
G
intron_variant
MODIFIER
CCBE1
c.266-30T>C
chr18
57134152
A
G
intron_variant
MODIFIER
CCBE1
c.401-29T>C
chr18
57115203
T
C
intron_variant
MODIFIER
CCBE1
c.775+12A>G
chr18
48610831
A
C
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5994A>C
chr18
48610697
CAAGAA
C
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5863_*5867delGAAAA
chr18
48610376
GCGCGCGCACACA
G
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5541_*5552delGCGCGCACACAC
chr18
48610370
GCA
G
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5535_*5536delAC
chr18
48610033
A
T
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5196A>T
chr18
48609968
A
G
3_prime_UTR_variant
MODIFIER
SMAD4
c.*5131A>G
chr18
48609102
G
GT
3_prime_UTR_variant
MODIFIER
SMAD4
c.*4277dupT
chr18
48594104
A
G
intron_variant
MODIFIER
SMAD4
c.1308+547A>G
chr18
48586344
C
T
intron_variant
MODIFIER
SMAD4
c.955+58C>T