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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
47371484
AG
A
intron_variant
MODIFIER
MYBPC3
c.506-12delC
chr11
47370041
T
C
missense_variant
MODERATE
MYBPC3
c.706A>G
chr11
47365276
A
G
intron_variant
MODIFIER
MYBPC3
c.1091-101T>C
chr11
47364762
A
G
intron_variant
MODIFIER
MYBPC3
c.1224-63T>C
chr11
47364621
G
A
synonymous_variant
LOW
MYBPC3
c.1302C>T
chr11
47360053
G
C
intron_variant
MODIFIER
MYBPC3
c.2308+18C>G
chr11
47359040
C
A
missense_variant
MODERATE
MYBPC3
c.2504G>T
chr11
47359039
G
A
synonymous_variant
LOW
MYBPC3
c.2505C>T
chr11
47358997
G
A
synonymous_variant
LOW
MYBPC3
c.2547C>T
chr11
47357416
G
A
intron_variant
MODIFIER
MYBPC3
c.2737+12C>T
chr11
47356870
A
T
intron_variant
MODIFIER
MYBPC3
c.2738-110T>A
chr11
47354787
C
T
synonymous_variant
LOW
MYBPC3
c.3288G>A
chr11
2870165
A
G
3_prime_UTR_variant
MODIFIER
KCNQ1
c.*932A>G
chr11
2870108
A
G
3_prime_UTR_variant
MODIFIER
KCNQ1
c.*875A>G
chr11
2869712
G
A
3_prime_UTR_variant
MODIFIER
KCNQ1
c.*479G>A
chr11
2868878
T
C
intron_variant
MODIFIER
KCNQ1
c.1795-119T>C
chr11
2868868
G
A
intron_variant
MODIFIER
KCNQ1
c.1795-129G>A
chr11
2797430
G
C
intron_variant
MODIFIER
KCNQ1
c.1685+146G>C
chr11
2797320
A
G
intron_variant
MODIFIER
KCNQ1
c.1685+36A>G
chr11
2797237
G
A
synonymous_variant
LOW
KCNQ1
c.1638G>A