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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
94043493
G
A
intron_variant
MODIFIER
COL1A2
c.1666-41G>A
chr7
94043239
C
G
missense_variant
MODERATE
COL1A2
c.1645C>G
chr7
94041937
A
C
synonymous_variant
LOW
COL1A2
c.1446A>C
chr7
94040345
GT
G
intron_variant
MODIFIER
COL1A2
c.1252-22delT
chr7
94040287
G
A
intron_variant
MODIFIER
COL1A2
c.1251+33G>A
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
94034848
A
G
intron_variant
MODIFIER
COL1A2
c.487-137A>G
chr7
94033800
A
G
intron_variant
MODIFIER
COL1A2
c.280-68A>G
chr7
94028427
G
A
intron_variant
MODIFIER
COL1A2
c.132+31G>A
chr7
94027043
CT
C
intron_variant
MODIFIER
COL1A2
c.71-16delT
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
83098749
G
A
intron_variant
MODIFIER
SEMA3E
c.277-131C>T