Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr14
70478183
C
A
intron_variant
MODIFIER
SMOC1
c.858-19C>A
chr14
70478176
C
T
intron_variant
MODIFIER
SMOC1
c.858-26C>T
chr14
70478173
CA
C
intron_variant
MODIFIER
SMOC1
c.858-28delA
chr14
70477786
A
G
intron_variant
MODIFIER
SMOC1
c.857+123A>G
chr14
70477695
C
T
intron_variant
MODIFIER
SMOC1
c.857+32C>T
chr14
70477508
C
T
synonymous_variant
LOW
SMOC1
c.702C>T
chr14
70418798
G
A
intron_variant
MODIFIER
SMOC1
c.100-57G>A
chr14
54420235
T
C
intron_variant
MODIFIER
BMP4
c.-132-117A>G
chr14
54419965
G
A
intron_variant
MODIFIER
BMP4
c.-8+29C>T
chr14
54418986
T
C
intron_variant
MODIFIER
BMP4
c.-7-39A>G
chr14
54416699
GGT
G
3_prime_UTR_variant
MODIFIER
BMP4
c.*49_*50delAC
chr14
23903380
A
G
intron_variant
MODIFIER
MYH7
c.-9+23T>C
chr14
23902753
G
A
synonymous_variant
LOW
MYH7
c.189C>T
chr14
23892645
A
AAC
intron_variant
MODIFIER
MYH7
c.3099+110_3099+111insGT
chr14
23872666
T
C
intron_variant
MODIFIER
MYH6
c.800-11A>G
chr14
23856896
A
G
intron_variant
MODIFIER
MYH6
c.4526-34T>C
chr13
95034763
G
A
synonymous_variant
LOW
GPC6
c.1248G>A
chr13
94938808
GAT
G
intron_variant
MODIFIER
GPC6
c.1008+76_1008+77delAT
chr13
94938785
A
G
intron_variant
MODIFIER
GPC6
c.1008+52A>G
chr13
31903834
G
T
3_prime_UTR_variant
MODIFIER
B3GALTL
c.*29G>T