Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
2797170
C
T
intron_variant
MODIFIER
KCNQ1
c.1591-20C>T
chr11
2790019
G
A
intron_variant
MODIFIER
KCNQ1
c.1515-55G>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
2549329
TGG
T
intron_variant
MODIFIER
KCNQ1
c.477+82_477+83delGG
chr11
2542606
A
G
intron_variant
MODIFIER
KCNQ1
c.387-6552A>G
chr11
2542605
T
G
intron_variant
MODIFIER
KCNQ1
c.387-6553T>G
chr11
534403
GCCCAGGCCCAGC
G
intron_variant
MODIFIER
HRAS
c.-53-40_-53-29delGCTGGGCCTGGG
chr11
534242
A
G
synonymous_variant
LOW
HRAS
c.81T>C
chr11
534197
C
T
intron_variant
MODIFIER
HRAS
c.111+15G>A
chr10
129871795
C
T
intron_variant
MODIFIER
PTPRE
c.1599+60C>T
chr10
129871766
A
AG
intron_variant
MODIFIER
PTPRE
c.1599+31_1599+32insG
chr10
129871747
C
T
intron_variant
MODIFIER
PTPRE
c.1599+12C>T
chr10
129871690
A
G
synonymous_variant
LOW
PTPRE
c.1554A>G
chr10
129870622
TA
T
intron_variant
MODIFIER
PTPRE
c.1464+145delA
chr10
129870293
G
C
intron_variant
MODIFIER
PTPRE
c.1388-109G>C
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
129866449
C
G
synonymous_variant
LOW
PTPRE
c.906C>G