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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
21958998
CAA
C
splice_region_variant&intron_variant
LOW
ABCC9
c.4450-6_4450-5delTT
chr12
15034996
T
A
3_prime_UTR_variant
MODIFIER
MGP
c.*77A>T
chr12
7362204
G
GCTGAGTCGGTGGAGTAATGTGCAGAGTTTGAT
intron_variant
MODIFIER
PEX5
c.1624-75_1624-74insCTGAGTCGGTGGAGTAATGTGCAGAGTTTGAT
chr12
7360229
C
G
intron_variant
MODIFIER
PEX5
c.1030-26C>G
chr12
7343108
GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
G
frameshift_variant&splice_donor_variant&splice_region_variant&splice_region_variant&intron_variant
HIGH
PEX5
c.195_210+29delGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCA
chr12
6711147
C
A
missense_variant
MODERATE
CHD4
c.417G>T
chr12
6697353
G
A
intron_variant
MODIFIER
CHD4
c.3465+111C>T
chr12
2799987
C
T
intron_variant
MODIFIER
CACNA1C
c.6367-79C>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
2791205
A
G
missense_variant
MODERATE
CACNA1C
c.5678A>G
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
2787058
C
T
intron_variant
MODIFIER
CACNA1C
c.5235+25C>T
chr12
2783517
G
A
intron_variant
MODIFIER
CACNA1C
c.4871-190G>A
chr12
2778272
G
GC
intron_variant
MODIFIER
CACNA1C
c.4870+71_4870+72insC
chr12
2760965
GA
G
intron_variant
MODIFIER
CACNA1C
c.4218+32delA
chr12
2750893
C
T
intron_variant
MODIFIER
CACNA1C
c.4057-6748C>T
chr12
2743360
CT
C
intron_variant
MODIFIER
CACNA1C
c.3973-102delT