|
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|
|
|
|
|
|
|
Paternal |
Maternal |
7 |
HL<-5.9SD,FL<-5.9SD;metaphyseal enlargement |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |
14 |
BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |
19 |
BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD |
NM_000142.4 |
FGFR3:c.1620C>A(p.N540K) |
Exon12 |
Het |
chr4:1807371-1807371 |
Pathogenic |
PS1+PS2+PM1+PM2+ PP3 |
Wild |
Wild |
23 |
Fetal limbs are short |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |
30 |
FL<-6.0SD |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |
72 |
FL<-4.0SD,HL<-2.0SD |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |
79 |
HC>+2.4SD,AC<-0.34SD,FL<-4.2SD |
NM_000142.4 |
FGFR3:c.1138G>A(p.G380R) |
Exon9 |
Het |
chr4:1806119-1806119 |
Pathogenic |
PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 |
Wild |
Wild |