|
ID
|
Coding DNA change
|
Protein change
|
Genomic change
|
Effect
|
Inheritance
|
|---|
|
S1
|
c.975-2A>C
|
p.Lys325Asnfs*12
|
chr3:g.71050212T>G
|
Splice-site
|
De novo
|
|
S2a
|
c.1267_1268delGT
|
p.Val423Hisfs*37
|
chr3:g.71027059_71027060delAC
|
Frameshift
|
De novo
|
|
S3
|
c.1333_1335delinsAA
|
p.Val445Asnfs*29
|
chr3:g.71026992_71026994delinsTT
|
Frameshift
|
De novo
|
|
S4b
|
c.1393A>G
|
p.Arg465Gly
|
chr3:g.71026829T>C
|
Missense
|
De novo
|
|
S5
|
c.1506C>G
|
p.Phe502Leu
|
chr3:g.71026116G>C
|
Missense
|
De novo
|
|
W1c
|
c.1014dupA
|
p.Ala339Serfs*4
|
chr3:g.71050171dupT
|
Frameshift
|
De novo
|
|
W2
|
c.1240delC
|
p.Leu414*
|
chr3:g.71027087delG
|
Nonsense
|
Unknown
|
|
W3
|
c.1409A>G
|
p.Tyr470Cys
|
chr3:g.71026813T>C
|
Missense
|
De novo
|
|
W4
|
c.1590_1601delAGGGGCAGTATG
|
p.Gly531_Trp534del
|
chr3:g.71021757_71021768delCATACTGCCCCT
|
In-frame deletion
|
De novo
|
- cDNA (NM_032682.5), protein (NP_116071.2/Q9H334–1), and genomic (GRCh37/hg19) changes are shown. Asterisks indicate stop codons
-
aIndividual S2 was previously reported by Lozano et al. (2015) [4]
-
bIndividual S4 was previously reported by Sollis et al. (2016) (subject 1) [5]
-
cIndividual W1 was previously reported by O’Roak et al. (2011) (subject 12817.p1) [10], without clinical description
