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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
38935350
T
TC
intron_variant
MODIFIER
RYR1
c.631+33_631+34insC
chr19
38935280
A
G
synonymous_variant
LOW
RYR1
c.594A>G
chr19
38933120
G
A
intron_variant
MODIFIER
RYR1
c.270+27G>A
chr19
38924814
T
C
intron_variant
MODIFIER
RYR1
c.45+300T>C
chr19
18990982
C
T
intron_variant
MODIFIER
GDF1
c.-571+101G>A
chr19
18989859
G
A
intron_variant
MODIFIER
GDF1
c.-422-11C>T
chr19
18988699
T
C
intron_variant
MODIFIER
GDF1
c.-313+1040A>G
chr19
18988666
T
C
intron_variant
MODIFIER
GDF1
c.-313+1073A>G
chr19
18981235
C
A
5_prime_UTR_variant
MODIFIER
GDF1
c.-119G>T
chr19
18980213
A
G
intron_variant
MODIFIER
GDF1
c.326-14T>C
chr19
18279816
A
G
intron_variant
MODIFIER
PIK3R2
c.1980-81A>G
chr19
18279638
T
C
synonymous_variant
LOW
PIK3R2
c.1911T>C
chr19
18277206
G
A
intron_variant
MODIFIER
PIK3R2
c.1559+94G>A
chr19
18276856
T
C
intron_variant
MODIFIER
PIK3R2
c.1417-114T>C
chr19
18273410
A
G
intron_variant
MODIFIER
PIK3R2
c.1109+94A>G
chr19
18273047
T
C
missense_variant
MODERATE
PIK3R2
c.937T>C
chr19
11363146
A
T
intron_variant
MODIFIER
DOCK6
c.377+12T>A
chr19
11358799
G
A
missense_variant
MODERATE
DOCK6
c.749C>T
chr19
11327626
A
G
synonymous_variant
LOW
DOCK6
c.3858T>C
chr19
11327608
T
C
synonymous_variant
LOW
DOCK6
c.3876A>G