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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
53779580
G
C
intron_variant
MODIFIER
CACNA1D
c.3067-71G>C
chr3
53778621
G
A
intron_variant
MODIFIER
CACNA1D
c.2979-146G>A
chr3
53777176
T
C
intron_variant
MODIFIER
CACNA1D
c.2978+32T>C
chr3
53776995
T
C
intron_variant
MODIFIER
CACNA1D
c.2872-43T>C
chr3
53774458
G
A
intron_variant
MODIFIER
CACNA1D
c.2871+92G>A
chr3
53766212
A
T
intron_variant
MODIFIER
CACNA1D
c.2533+103A>T
chr3
53766026
T
C
intron_variant
MODIFIER
CACNA1D
c.2467-17T>C
chr3
53758049
G
A
intron_variant
MODIFIER
CACNA1D
c.2160+23G>A
chr3
53744327
C
G
intron_variant
MODIFIER
CACNA1D
c.1390+7490C>G
chr3
53744319
T
C
intron_variant
MODIFIER
CACNA1D
c.1390+7482T>C
chr3
53700550
T
C
synonymous_variant
LOW
CACNA1D
c.1104T>C
chr3
53700304
G
A
intron_variant
MODIFIER
CACNA1D
c.920-62G>A
chr3
53529140
T
C
5_prime_UTR_variant
MODIFIER
CACNA1D
c.-54T>C
chr3
38674712
T
C
synonymous_variant
LOW
SCN5A
c.87A>G
chr3
38656033
A
G
intron_variant
MODIFIER
SCN5A
c.612-476T>C
chr3
38627153
G
GGTGTGTGTGTGTGTGTGTGTGTGTGTGT
intron_variant
MODIFIER
SCN5A
c.2787+28_2787+29insACACACACACACACACACACACACACAC
chr3
38622467
T
C
synonymous_variant
LOW
SCN5A
c.3183A>G
chr3
38601556
T
C
intron_variant
MODIFIER
SCN5A
c.4245+82A>G
chr3
38598669
A
G
intron_variant
MODIFIER
SCN5A
c.4299+53T>C
chr3
38589666
T
TCCCTCCTTTTTCCTACTCTCTTCTC
3_prime_UTR_variant
MODIFIER
SCN5A
c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG