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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
38997459
G
C
intron_variant
MODIFIER
RYR1
c.8693-10G>C
chr19
38997364
T
TTCA
intron_variant
MODIFIER
RYR1
c.8693-105_8693-104insTCA
chr19
38997214
T
G
intron_variant
MODIFIER
RYR1
c.8692+28T>G
chr19
38997076
C
T
intron_variant
MODIFIER
RYR1
c.8617-35C>T
chr19
38996990
T
C
synonymous_variant
LOW
RYR1
c.8589T>C
chr19
38996066
A
G
intron_variant
MODIFIER
RYR1
c.8400+28A>G
chr19
38995975
G
A
synonymous_variant
LOW
RYR1
c.8337G>A
chr19
38995510
T
C
synonymous_variant
LOW
RYR1
c.8190T>C
chr19
38995438
T
C
synonymous_variant
LOW
RYR1
c.8118T>C
chr19
38995355
ACCT
A
intron_variant
MODIFIER
RYR1
c.8068-32_8068-30delCCT
chr19
38994910
G
A
synonymous_variant
LOW
RYR1
c.7977G>A
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
38990456
C
T
synonymous_variant
LOW
RYR1
c.7209C>T
chr19
38990345
C
T
synonymous_variant
LOW
RYR1
c.7098C>T
chr19
38990336
C
T
synonymous_variant
LOW
RYR1
c.7089C>T