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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
10639385
A
G
intron_variant
MODIFIER
JAG1
c.440-15T>C
chr20
10639222
G
A
synonymous_variant
LOW
JAG1
c.588C>T
chr20
10633313
T
C
intron_variant
MODIFIER
JAG1
c.756-67A>G
chr20
10633237
G
A
synonymous_variant
LOW
JAG1
c.765C>T
chr20
10629129
A
C
intron_variant
MODIFIER
JAG1
c.1569+68T>G
chr20
10624930
A
T
intron_variant
MODIFIER
JAG1
c.2372+75T>A
chr20
10624928
A
T
intron_variant
MODIFIER
JAG1
c.2372+77T>A
chr20
10624924
TCA
TCACACACA
intron_variant
MODIFIER
JAG1
c.2372+78_2372+79insTGTGTG
chr20
10624924
TCA
T
intron_variant
MODIFIER
JAG1
c.2372+79_2372+80delTG
chr20
10623035
CT
C
intron_variant
MODIFIER
JAG1
c.2572+100delA
chr20
10622589
G
A
intron_variant
MODIFIER
JAG1
c.2573-49C>T
chr20
10621923
G
GT
intron_variant
MODIFIER
JAG1
c.2917-32_2917-31insA
chr20
10620386
A
G
synonymous_variant
LOW
JAG1
c.3417T>C
chr20
10393145
C
G
intron_variant
MODIFIER
MKKS
c.985+33G>C
chr20
6759115
A
T
missense_variant
MODERATE
BMP2
c.570A>T
chr20
6751034
A
G
synonymous_variant
LOW
BMP2
c.261A>G
chr20
6750882
T
G
missense_variant
MODERATE
BMP2
c.109T>G
chr19
55668992
G
T
5_prime_UTR_variant
MODIFIER
TNNI3
c.-35C>A
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