Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
70418881
G
A
synonymous_variant
LOW
SMOC1
c.126G>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
23892645
AACACAC
A
intron_variant
MODIFIER
MYH7
c.3099+105_3099+110delGTGTGT
chr14
23872666
T
C
intron_variant
MODIFIER
MYH6
c.800-11A>G
chr14
23856896
A
G
intron_variant
MODIFIER
MYH6
c.4526-34T>C
chr14
23855849
C
T
intron_variant
MODIFIER
MYH6
c.4651-17G>A
chr14
23855569
A
G
synonymous_variant
LOW
MYH6
c.4914T>C
chr14
23854352
A
T
intron_variant
MODIFIER
MYH6
c.5164-102T>A
chr14
23854324
A
G
intron_variant
MODIFIER
MYH6
c.5164-74T>C
chr14
23853629
T
C
intron_variant
MODIFIER
MYH6
c.5565+22A>G
chr14
23852651
T
G
intron_variant
MODIFIER
MYH6
c.5566-122A>C
chr14
23851882
C
A
intron_variant
MODIFIER
MYH6
c.5662-111G>T
chr14
23851874
A
G
intron_variant
MODIFIER
MYH6
c.5662-103T>C
chr13
95055404
G
A
missense_variant
MODERATE
GPC6
c.1601G>A
chr13
95034763
G
A
synonymous_variant
LOW
GPC6
c.1248G>A