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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
91010776
T
C
synonymous_variant
LOW
IQGAP1
c.2130T>C
chr15
91009484
G
A
intron_variant
MODIFIER
IQGAP1
c.1868-17G>A
chr15
91009381
G
A
intron_variant
MODIFIER
IQGAP1
c.1867+58G>A
chr15
91009192
T
C
intron_variant
MODIFIER
IQGAP1
c.1777-41T>C
chr15
90999715
A
T
intron_variant
MODIFIER
IQGAP1
c.1776+168A>T
chr15
90993016
G
A
intron_variant
MODIFIER
IQGAP1
c.1162+141G>A
chr15
90992654
G
T
intron_variant
MODIFIER
IQGAP1
c.1078-137G>T
chr15
90983594
C
T
intron_variant
MODIFIER
IQGAP1
c.536-140C>T
chr15
90982756
C
T
intron_variant
MODIFIER
IQGAP1
c.535+125C>T
chr15
90982482
A
T
intron_variant
MODIFIER
IQGAP1
c.468-82A>T
chr15
90982398
A
ACT
intron_variant
MODIFIER
IQGAP1
c.468-166_468-165insCT
chr15
90969335
G
T
splice_region_variant&intron_variant
LOW
IQGAP1
c.156-7G>T
chr15
90931457
C
T
upstream_gene_variant
MODIFIER
IQGAP1
c.-102C>T
chr15
90320134
AGGGCAGGGGCAG
A
disruptive_inframe_deletion
MODERATE
MESP2
c.558_569delGGGGCAGGGGCA
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
disruptive_inframe_deletion
MODERATE
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
chr15
90294306
C
CACGGGGCTCGG
frameshift_variant
HIGH
MESP1
c.156_157insCCGAGCCCCGT
chr15
90294304
C
CG
frameshift_variant
HIGH
MESP1
c.158dupC
chr15
90294289
T
G
synonymous_variant
LOW
MESP1
c.174A>C
chr15
90294281
A
C
missense_variant
MODERATE
MESP1
c.182T>G
chr15
90293776
A
C
synonymous_variant
LOW
MESP1
c.687T>G