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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
42367906
T
C
intron_variant
MODIFIER
RPS19
c.172+2625T>C
chr19
42365518
A
G
intron_variant
MODIFIER
RPS19
c.172+237A>G
chr19
42365004
G
C
intron_variant
MODIFIER
RPS19
c.71+89G>C
chr19
42364994
T
TC
intron_variant
MODIFIER
RPS19
c.71+79_71+80insC
chr19
39998935
A
G
3_prime_UTR_variant
MODIFIER
DLL3
c.*282A>G
chr19
39994711
T
C
missense_variant&splice_region_variant
MODERATE
DLL3
c.653T>C
chr19
39077339
G
A
intron_variant
MODIFIER
RYR1
c.15021+123G>A
chr19
39074117
CA
C
intron_variant
MODIFIER
RYR1
c.14647-1465delA
chr19
39058158
A
G
intron_variant
MODIFIER
RYR1
c.13515-255A>G
chr19
39053691
T
C
intron_variant
MODIFIER
RYR1
c.12624+1597T>C
chr19
39052108
C
T
intron_variant
MODIFIER
RYR1
c.12624+14C>T
chr19
39051680
TA
T
intron_variant
MODIFIER
RYR1
c.12283-72delA
chr19
39019704
A
G
splice_region_variant&intron_variant
LOW
RYR1
c.11141+7A>G
chr19
39008003
G
A
synonymous_variant
LOW
RYR1
c.9690G>A
chr19
39002725
A
G
synonymous_variant
LOW
RYR1
c.9186A>G
chr19
39000946
A
G
intron_variant
MODIFIER
RYR1
c.8933-192A>G
chr19
38998497
G
GC
intron_variant
MODIFIER
RYR1
c.8932+30_8932+31insC
chr19
38997679
G
T
intron_variant
MODIFIER
RYR1
c.8816+87G>T
chr19
38997635
A
C
intron_variant
MODIFIER
RYR1
c.8816+43A>C
chr19
38997609
T
A
intron_variant
MODIFIER
RYR1
c.8816+17T>A