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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
48702873
G
A
3_prime_UTR_variant
MODIFIER
FBN1
c.*314C>T
chr15
48702457
C
A
3_prime_UTR_variant
MODIFIER
FBN1
c.*730G>T
chr15
48701612
A
C
3_prime_UTR_variant
MODIFIER
FBN1
c.*1575T>G
chr15
48701228
C
T
3_prime_UTR_variant
MODIFIER
FBN1
c.*1959G>A
chr15
48701029
C
T
3_prime_UTR_variant
MODIFIER
FBN1
c.*2158G>A
chr15
43398108
A
G
intron_variant
MODIFIER
UBR1
c.81+32T>C
chr15
43352041
G
A
intron_variant
MODIFIER
UBR1
c.862-18C>T
chr15
43330175
A
T
intron_variant
MODIFIER
UBR1
c.1912-94T>A
chr15
43328663
C
T
intron_variant
MODIFIER
UBR1
c.2088+63G>A
chr15
43322113
C
A
intron_variant
MODIFIER
UBR1
c.2379+29G>T
chr15
43268787
G
GATAA
intron_variant
MODIFIER
UBR1
c.4369+127_4369+128insTTAT
chr15
43262924
CT
C
intron_variant
MODIFIER
UBR1
c.4370-120delA
chr15
43256121
T
C
intron_variant
MODIFIER
UBR1
c.4700+12A>G
chr15
43244699
A
G
intron_variant
MODIFIER
UBR1
c.4836-53T>C
chr15
38643574
T
C
synonymous_variant
LOW
SPRED1
c.1044T>C
chr15
38641777
G
GTA
intron_variant
MODIFIER
SPRED1
c.684+53_684+54insTA
chr15
38641774
A
AAAT
intron_variant
MODIFIER
SPRED1
c.684+50_684+51insAAT
chr15
38641773
G
GTT
intron_variant
MODIFIER
SPRED1
c.684+49_684+50insTT
chr15
38632148
A
G
intron_variant
MODIFIER
SPRED1
c.582+52A>G
chr15
38631930
C
A
splice_region_variant&intron_variant
LOW
SPRED1
c.424-8C>A