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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
94040345
GT
G
intron_variant
MODIFIER
COL1A2
c.1252-22delT
chr7
94040133
T
A
intron_variant
MODIFIER
COL1A2
c.1198-68T>A
chr7
94039900
C
T
intron_variant
MODIFIER
COL1A2
c.1197+61C>T
chr7
94039032
C
T
splice_region_variant&intron_variant
LOW
COL1A2
c.937-3C>T
chr7
94038934
C
T
intron_variant
MODIFIER
COL1A2
c.936+14C>T
chr7
94037034
A
G
intron_variant
MODIFIER
COL1A2
c.595-125A>G
chr7
94028427
G
A
intron_variant
MODIFIER
COL1A2
c.132+31G>A
chr7
92147584
C
T
intron_variant
MODIFIER
PEX1
c.358-15G>A
chr7
92136499
T
TA
intron_variant
MODIFIER
PEX1
c.1671-60_1671-59insT
chr7
92135419
A
AAAGACTTAAAATTTCT
intron_variant
MODIFIER
PEX1
c.1900+142_1900+143insAGAAATTTTAAGTCTT
chr7
92131289
G
T
synonymous_variant
LOW
PEX1
c.2331C>A
chr7
92129161
CA
C
intron_variant
MODIFIER
PEX1
c.2584-10delT
chr7
92119284
C
G
intron_variant
MODIFIER
PEX1
c.3439-59G>C
chr7
83098714
CTTT
C
intron_variant
MODIFIER
SEMA3E
c.277-99_277-97delAAA
chr7
83098696
T
A
intron_variant
MODIFIER
SEMA3E
c.277-78A>T
chr7
83098428
A
AT
intron_variant
MODIFIER
SEMA3E
c.336+130_336+131insA
chr7
83095968
C
A
intron_variant
MODIFIER
SEMA3E
c.337-51G>T
chr7
83047883
G
A
intron_variant
MODIFIER
SEMA3E
c.457-84C>T
chr7
83047666
C
T
intron_variant
MODIFIER
SEMA3E
c.550+40G>A
chr7
83037751
C
A
synonymous_variant
LOW
SEMA3E
c.603G>T