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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr3
123440967
G
A
splice_region_variant&intron_variant
LOW
MYLK
c.1804+8C>T
chr3
123420426
G
A
intron_variant
MODIFIER
MYLK
c.2391-70C>T
chr3
123419733
A
G
missense_variant
MODERATE
MYLK
c.2582T>C
chr3
123419573
G
T
missense_variant
MODERATE
MYLK
c.2742C>A
chr3
123419288
C
T
synonymous_variant
LOW
MYLK
c.3027G>A
chr3
123419116
GTTC
G
inframe_deletion
MODERATE
MYLK
c.3196_3198delGAA
chr3
123418913
G
A
synonymous_variant
LOW
MYLK
c.3402C>T
chr3
123411522
G
C
intron_variant
MODIFIER
MYLK
c.3565+60C>G
chr3
123368013
A
G
synonymous_variant
LOW
MYLK
c.4317T>C
chr3
123357062
G
C
intron_variant
MODIFIER
MYLK
c.4838-21C>G
chr3
123357037
A
G
synonymous_variant
LOW
MYLK
c.4842T>C
chr3
123332875
GT
G
3_prime_UTR_variant
MODIFIER
MYLK
c.*76delA
chr3
119133183
G
A
missense_variant
MODERATE
ARHGAP31
c.2407G>A
chr3
119128634
T
C
intron_variant
MODIFIER
ARHGAP31
c.1926+11T>C
chr3
119128628
A
G
splice_region_variant&intron_variant
LOW
ARHGAP31
c.1926+5A>G
chr3
119128398
G
A
synonymous_variant
LOW
ARHGAP31
c.1701G>A
chr3
119120577
G
C
intron_variant
MODIFIER
ARHGAP31
c.1070-92G>C
chr3
119118104
A
G
synonymous_variant
LOW
ARHGAP31
c.1065A>G
chr3
119084126
C
A
intron_variant
MODIFIER
ARHGAP31
c.101-37C>A
chr3
119043749
G
A
intron_variant
MODIFIER
ARHGAP31
c.100+29898G>A