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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr11
128781339
T
C
synonymous_variant
LOW
KCNJ5
c.171T>C
chr11
123504959
C
G
intron_variant
MODIFIER
SCN3B
c.585-45G>C
chr11
119179007
T
C
downstream_gene_variant
MODIFIER
CBL
c.*2863T>C
chr11
119155618
G
T
intron_variant
MODIFIER
CBL
c.1432-61G>T
chr11
119148573
G
T
intron_variant
MODIFIER
CBL
c.1095+19G>T
chr11
119146659
G
C
intron_variant
MODIFIER
CBL
c.870-48G>C
chr11
119145705
G
GT
intron_variant
MODIFIER
CBL
c.869+42_869+43insT
chr11
95550841
C
T
intron_variant
MODIFIER
CEP57
c.505-110C>T
chr11
95528891
G
T
intron_variant
MODIFIER
CEP57
c.46-3505G>T
chr11
95528663
C
CT
intron_variant
MODIFIER
CEP57
c.46-3733_46-3732insT
chr11
74168411
A
G
synonymous_variant
LOW
KCNE3
c.198T>C
chr11
71155153
A
G
synonymous_variant
LOW
DHCR7
c.207T>C
chr11
71152461
A
G
synonymous_variant
LOW
DHCR7
c.438T>C
chr11
71150190
C
T
intron_variant
MODIFIER
DHCR7
c.627-61G>A
chr11
71149069
A
G
intron_variant
MODIFIER
DHCR7
c.832-80T>C
chr11
71146841
G
A
synonymous_variant
LOW
DHCR7
c.1008C>T
chr11
66138894
G
C
intron_variant
MODIFIER
SLC29A2
c.30-98C>G