|
ID
|
WES
|
CNV
|
MGS
|
Gene
|
Transcript
|
Nucleotide change
|
Amino acid change
|
Variant type
|
Exon
|
State
|
ACMG
|
Reference (PMID)
|
|---|
|
1
|
+
|
+
|
+
|
NDP
|
NM_000266
|
c.118A>G
|
p.(Met40Val)
|
missense
|
E2
|
Hem
|
UVS
|
30768221
|
|
2
|
+
|
+
|
+
|
FZD4
|
NM_012193
|
c.757C>T
|
p.(Arg253Cys)
|
missense
|
E2
|
Het
|
LP
|
30452590
|
|
3
|
+
|
+
|
+
|
FZD4
|
NM_012193
|
c.981G>A
|
p.(Trp327Ter)
|
nonsense
|
E2
|
Het
|
LP
|
30452590
|
|
4
|
+
|
−
|
−
|
FZD4
|
NM_012193
|
c.1039T>G
|
p.(Phe347Val)
|
missense
|
E2
|
Het
|
UVS
|
Novel
|
|
5
|
+
|
+
|
+
|
LRP5
|
NM_002335
|
c.685C>T
|
p.(Arg229Trp)
|
missense
|
E3
|
Het
|
LP
|
31589614
|
|
6
|
+
|
−
|
−
|
LRP5
|
NM_002335
|
c.1210G>A
|
p.(Gly404Arg)
|
missense
|
E6
|
Het
|
LP
|
16252235
|
|
6
|
+
|
−
|
−
|
LRP5
|
NM_002335
|
c.1612C>T
|
p.(Arg538Trp)
|
missense
|
E8
|
Het
|
LP
|
Novel
|
|
7
|
+
|
−
|
−
|
LRP5
|
NM_002335
|
c.3232C>T
|
p.(Arg1078Ter)
|
nonsense
|
E14
|
Het
|
LP
|
20340138
|
|
8
|
+
|
+
|
+
|
LRP5
|
NM_002335
|
c.3237-2A>C
|
−
|
splice
|
I14
|
Het
|
P
|
Novel
|
|
9
|
+
|
+
|
+
|
LRP5
|
NM_002335
|
c.4084A>G
|
p.(Ile1362Val)
|
missense
|
E19
|
Het
|
UVS
|
30097784
|
|
10
|
+
|
+
|
+
|
TSPAN12
|
NM_012338
|
c.77T>A
|
p.(Ile26Asn)
|
missense
|
E3
|
Het
|
UVS
|
Novel
|
|
11
|
+
|
−
|
−
|
TSPAN12
|
NM_012338
|
c.170dupT
|
p.(Leu57Phe fsTer60)
|
nonsense
|
E4
|
Het
|
LP
|
Novel
|
|
12
|
+
|
−
|
−
|
TSPAN12
|
NM_012338
|
c.236T>G
|
p.(Met79Arg)
|
missense
|
E4
|
Het
|
LP
|
Novel
|
|
13
|
+
|
+
|
+
|
TSPAN12
|
NM_012338
|
c.550dupA
|
p.(Arg184Lys fsTer16)
|
nonsense
|
E7
|
Het
|
LP
|
Novel
|
- Het, heterozygous; Hem, hemizygote; P, pathogenic; LP, likely pathogenic; UVS, uncertain significance; E, Exon; I, Intron; ACMG, American College of Medical Genetics; MGS, mitochondrial genome sequencing; WES, whole exome sequencing; CNV, copy number variant
