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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
38994747
ACCT
A
intron_variant
MODIFIER
RYR1
c.7927-112_7927-110delCCT
chr19
38993638
A
G
intron_variant
MODIFIER
RYR1
c.7926+28A>G
chr19
38993547
C
T
synonymous_variant
LOW
RYR1
c.7863C>T
chr19
38993372
A
G
splice_region_variant&intron_variant
LOW
RYR1
c.7835+5A>G
chr19
38991640
C
G
intron_variant
MODIFIER
RYR1
c.7614+10C>G
chr19
38990676
C
A
intron_variant
MODIFIER
RYR1
c.7323+20C>A
chr19
38990345
C
T
synonymous_variant
LOW
RYR1
c.7098C>T
chr19
38990336
C
T
synonymous_variant
LOW
RYR1
c.7089C>T
chr19
38979933
TGAG
T
inframe_deletion
MODERATE
RYR1
c.5671_5673delGAG
chr19
38959680
C
T
synonymous_variant
LOW
RYR1
c.3456C>T
chr19
38956839
C
T
synonymous_variant
LOW
RYR1
c.2979C>T
chr19
38953996
A
G
intron_variant
MODIFIER
RYR1
c.2578-67A>G
chr19
38948963
C
G
intron_variant
MODIFIER
RYR1
c.2167+31C>G
chr19
38948376
A
G
intron_variant
MODIFIER
RYR1
c.1925+106A>G
chr19
38946215
G
C
intron_variant
MODIFIER
RYR1
c.1672+29G>C
chr19
38946182
G
A
synonymous_variant
LOW
RYR1
c.1668G>A
chr19
38945851
T
C
intron_variant
MODIFIER
RYR1
c.1441-24T>C
chr19
38943728
G
A
intron_variant
MODIFIER
RYR1
c.1440+74G>A
chr19
38939505
T
C
intron_variant
MODIFIER
RYR1
c.1122+52T>C
chr19
38939408
T
C
synonymous_variant
LOW
RYR1
c.1077T>C