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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
47354068
G
A
intron_variant
MODIFIER
MYBPC3
c.3627+49C>T
chr11
47353498
G
A
intron_variant
MODIFIER
MYBPC3
c.3815-66C>T
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
2868878
T
C
intron_variant
MODIFIER
KCNQ1
c.1795-119T>C
chr11
2797237
G
A
synonymous_variant
LOW
KCNQ1
c.1638G>A
chr11
2638195
T
G
intron_variant
MODIFIER
KCNQ1
c.1393+28111T>G
chr11
2638193
GT
G
intron_variant
MODIFIER
KCNQ1
c.1393+28121delT
chr11
2638081
T
C
intron_variant
MODIFIER
KCNQ1
c.1393+27997T>C
chr11
2593977
A
G
intron_variant
MODIFIER
KCNQ1
c.781-99A>G
chr11
2593379
G
A
intron_variant
MODIFIER
KCNQ1
c.780+40G>A
chr11
2549329
TGG
T
intron_variant
MODIFIER
KCNQ1
c.477+82_477+83delGG
chr11
2549206
C
T
synonymous_variant
LOW
KCNQ1
c.435C>T
chr11
2542606
A
G
intron_variant
MODIFIER
KCNQ1
c.387-6552A>G
chr11
2542605
T
G
intron_variant
MODIFIER
KCNQ1
c.387-6553T>G
chr10
129869398
C
G
intron_variant
MODIFIER
PTPRE
c.1387+233C>G
chr10
129869233
A
G
intron_variant
MODIFIER
PTPRE
c.1387+68A>G
chr10
129864515
C
T
intron_variant
MODIFIER
PTPRE
c.843+57C>T
chr10
129859992
T
C
intron_variant
MODIFIER
PTPRE
c.625+13T>C
chr10
129859065
T
C
intron_variant
MODIFIER
PTPRE
c.512-138T>C