Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
91043192
ATGTTTTGTTT
A
intron_variant
MODIFIER
IQGAP1
c.4861-34_4861-25delTGTTTTGTTT
chr15
91017232
G
A
intron_variant
MODIFIER
IQGAP1
c.2505+33G>A
chr15
90320120
GAGGGGCAGGGGCAAGGGCAGGGGC
G
disruptive_inframe_deletion
MODERATE
MESP2
c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA
chr15
90196008
C
T
missense_variant
MODERATE
KIF7
c.154G>A
chr15
90195967
C
G
synonymous_variant
LOW
KIF7
c.195G>C
chr15
90195766
A
G
intron_variant
MODIFIER
KIF7
c.328+68T>C
chr15
90195765
A
G
intron_variant
MODIFIER
KIF7
c.328+69T>C
chr15
90192905
T
C
intron_variant
MODIFIER
KIF7
c.529+67A>G
chr15
90191827
T
C
missense_variant
MODERATE
KIF7
c.1102A>G
chr15
90188514
A
G
intron_variant
MODIFIER
KIF7
c.2038+53T>C
chr15
90185271
G
A
intron_variant
MODIFIER
KIF7
c.2394+163C>T
chr15
90177157
C
T
intron_variant
MODIFIER
KIF7
c.2395-43G>A
chr15
90176432
T
G
synonymous_variant
LOW
KIF7
c.2658A>C
chr15
90172834
T
G
intron_variant
MODIFIER
KIF7
c.3319-30A>C
chr15
90172600
G
A
splice_region_variant&intron_variant
LOW
KIF7
c.3517+6C>T
chr15
74500105
G
A
5_prime_UTR_variant
MODIFIER
STRA6
c.-38C>T
chr15
74489883
A
G
intron_variant
MODIFIER
STRA6
c.298-119T>C
chr15
74483415
T
C
intron_variant
MODIFIER
STRA6
c.982+93A>G
chr15
74477239
G
A
intron_variant
MODIFIER
STRA6
c.1283+82C>T
chr15
74477216
G
A
intron_variant
MODIFIER
STRA6
c.1283+105C>T