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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
66735551
C
T
intron_variant
MODIFIER
MAP2K1
c.439-67C>T
chr15
66727597
G
C
intron_variant
MODIFIER
MAP2K1
c.291+22G>C
chr15
63363401
C
CATTTTGTTTT
3_prime_UTR_variant
MODIFIER
TPM1
c.*30_*31insATTTTGTTTT
chr15
63353760
C
A
intron_variant
MODIFIER
TPM1
c.639+288C>A
chr15
63351840
C
A
synonymous_variant
LOW
TPM1
c.453C>A
chr15
63351687
A
G
intron_variant
MODIFIER
TPM1
c.375-75A>G
chr15
63349096
G
A
intron_variant
MODIFIER
TPM1
c.241-88G>A
chr15
63341073
C
A
intron_variant
MODIFIER
TPM1
c.240+4722C>A
chr15
63340885
C
T
synonymous_variant
LOW
TPM1
c.111C>T
chr15
63340647
A
G
5_prime_UTR_variant
MODIFIER
TPM1
c.-128A>G
chr15
49097733
T
TC
intron_variant
MODIFIER
CEP152
c.87+26_87+27insG
chr15
49083577
C
T
splice_region_variant&intron_variant
LOW
CEP152
c.833-4G>A
chr15
49074539
C
T
intron_variant
MODIFIER
CEP152
c.1322-112G>A
chr15
49044538
C
G
splice_region_variant&intron_variant
LOW
CEP152
c.3466+8G>C
chr15
48937978
G
A
5_prime_UTR_variant
MODIFIER
FBN1
c.-388C>T
chr15
48937339
G
A
intron_variant
MODIFIER
FBN1
c.-181-192C>T
chr15
48903126
A
G
intron_variant
MODIFIER
FBN1
c.248-103T>C
chr15
48826455
T
C
intron_variant
MODIFIER
FBN1
c.737-53A>G
chr15
48826421
CAG
C
intron_variant
MODIFIER
FBN1
c.737-21_737-20delCT
chr15
48813107
G
T
intron_variant
MODIFIER
FBN1
c.989-93C>A