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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
7360229
C
G
intron_variant
MODIFIER
PEX5
c.1030-26C>G
chr12
7360143
C
A
intron_variant
MODIFIER
PEX5
c.1030-112C>A
chr12
7355327
C
A
intron_variant
MODIFIER
PEX5
c.909+27C>A
chr12
6709945
G
A
intron_variant
MODIFIER
CHD4
c.928-110C>T
chr12
2795255
C
T
intron_variant
MODIFIER
CACNA1C
c.5930-77C>T
chr12
2795119
T
TG
intron_variant
MODIFIER
CACNA1C
c.5929+111_5929+112insG
chr12
2792020
CACAACACACACAA
C
intron_variant
MODIFIER
CACNA1C
c.5822+177_5822+189delACAACACACACAA
chr12
2792018
C
T
intron_variant
MODIFIER
CACNA1C
c.5822+174C>T
chr12
2791205
A
G
missense_variant
MODERATE
CACNA1C
c.5678A>G
chr12
2791132
A
G
missense_variant
MODERATE
CACNA1C
c.5605A>G
chr12
2791130
C
T
missense_variant
MODERATE
CACNA1C
c.5603C>T
chr12
2789789
C
G
intron_variant
MODIFIER
CACNA1C
c.5588+827C>G
chr12
2789787
A
G
intron_variant
MODIFIER
CACNA1C
c.5588+825A>G
chr12
2789401
C
CA
intron_variant
MODIFIER
CACNA1C
c.5588+439_5588+440insA
chr12
2788879
G
A
synonymous_variant
LOW
CACNA1C
c.5505G>A
chr12
2787058
C
T
intron_variant
MODIFIER
CACNA1C
c.5235+25C>T
chr12
2783476
T
C
intron_variant
MODIFIER
CACNA1C
c.4871-231T>C
chr12
2778272
G
GC
intron_variant
MODIFIER
CACNA1C
c.4870+71_4870+72insC
chr12
2774668
C
A
intron_variant
MODIFIER
CACNA1C
c.4543-79C>A
chr12
2760970
G
A
intron_variant
MODIFIER
CACNA1C
c.4218+36G>A