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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
10389509
A
T
intron_variant
MODIFIER
MKKS
c.986-58T>A
chr20
6759115
A
T
missense_variant
MODERATE
BMP2
c.570A>T
chr20
6751034
A
G
synonymous_variant
LOW
BMP2
c.261A>G
chr19
55668819
A
G
intron_variant
MODIFIER
TNNI3
c.22+117T>C
chr19
55668805
T
C
intron_variant
MODIFIER
TNNI3
c.22+131A>G
chr19
55668722
C
CCTGT
intron_variant
MODIFIER
TNNI3
c.22+213_22+214insACAG
chr19
55668509
A
T
intron_variant
MODIFIER
TNNI3
c.23-9T>A
chr19
55668310
C
G
intron_variant
MODIFIER
TNNI3
c.105+108G>C
chr19
55667447
G
A
intron_variant
MODIFIER
TNNI3
c.279+122C>T
chr19
55665584
A
C
intron_variant
MODIFIER
TNNI3
c.370-10T>G
chr19
42882829
TA
T
3_prime_UTR_variant
MODIFIER
MEGF8
c.*1903delA
chr19
42848764
A
G
intron_variant
MODIFIER
MEGF8
c.1933+27A>G
chr19
42373893
C
T
intron_variant
MODIFIER
RPS19
c.411+70C>T
chr19
42367914
CT
C
intron_variant
MODIFIER
RPS19
c.172+2634delT
chr19
39994711
T
C
missense_variant&splice_region_variant
MODERATE
DLL3
c.653T>C
chr19
39074117
CA
C
intron_variant
MODIFIER
RYR1
c.14647-1465delA
chr19
39053691
T
C
intron_variant
MODIFIER
RYR1
c.12624+1597T>C
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
39017197
A
C
intron_variant
MODIFIER
RYR1
c.10627-436A>C