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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
2742893
G
A
intron_variant
MODIFIER
CACNA1C
c.3972+15G>A
chr12
2721137
C
T
synonymous_variant
LOW
CACNA1C
c.3846C>T
chr12
2720988
T
C
intron_variant
MODIFIER
CACNA1C
c.3778-81T>C
chr12
2717160
T
C
intron_variant
MODIFIER
CACNA1C
c.3417-517T>C
chr12
2715958
T
C
intron_variant
MODIFIER
CACNA1C
c.3269+129T>C
chr12
2706720
G
C
intron_variant
MODIFIER
CACNA1C
c.2913+58G>C
chr12
2705356
A
G
intron_variant
MODIFIER
CACNA1C
c.2793+187A>G
chr12
2694638
C
T
synonymous_variant
LOW
CACNA1C
c.2436C>T
chr12
2690702
G
A
intron_variant
MODIFIER
CACNA1C
c.1896-54G>A
chr12
2690630
G
A
intron_variant
MODIFIER
CACNA1C
c.1896-126G>A
chr12
2676683
C
T
intron_variant
MODIFIER
CACNA1C
c.1670-52C>T
chr12
2659082
G
T
intron_variant
MODIFIER
CACNA1C
c.1391-27G>T
chr12
2659044
TG
T
intron_variant
MODIFIER
CACNA1C
c.1391-64delG
chr12
2613521
A
G
intron_variant
MODIFIER
CACNA1C
c.1114-487A>G
chr12
2558300
T
C
intron_variant
MODIFIER
CACNA1C
c.617+19T>C
chr12
2558298
G
A
intron_variant
MODIFIER
CACNA1C
c.617+17G>A
chr11
128786294
G
A
intron_variant
MODIFIER
KCNJ5
c.938-10G>A
chr11
128782012
C
G
missense_variant
MODERATE
KCNJ5
c.844C>G
chr11
128782002
T
C
synonymous_variant
LOW
KCNJ5
c.834T>C
chr11
128781978
T
G
synonymous_variant
LOW
KCNJ5
c.810T>G