S1c
|
c.1527G>A
|
p.Trp509*
|
chr22:g.51137146G>A
|
Exon 12
|
Nonsense
|
De novo
|
Pathogenic
|
S2
|
c.2471delC
|
p.Pro824Argfs*69
|
chr22:g.51158732delC
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S3d
|
c.2499delG
|
p.Pro834Argfs*59
|
chr22:g.51158760delG
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S4
|
c.2946_2949delCCGC
|
p.Arg983Serfs*94
|
chr22:g.51159207_51159210delCCGC
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S5
|
c.3095_3107delTGGGGGCCATCGA
|
p.Val1032Glyfs*42
|
chr22:g.51159356_51159368delTGGGGGCCATCGA
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S6
|
c.3424_3425delCT
|
p.Leu1142Valfs*153
|
chr22:g.51159685_51159686delCT
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S7
|
c.3679dupG
|
p.Ala1227Glyfs*69
|
chr22:g.51159940dupG
|
Exon 21
|
Frameshift
|
Non-paternal
|
Pathogenic
|
S8
|
c.3679dupG
|
p.Ala1227Glyfs*69
|
chr22:g.51159940dupG
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
B1e
|
c.3679dupG
|
p.Ala1227Glyfs*69
|
chr22:g.51159940dupG
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S9
|
c.3764_3776delGGGCCCAGCCCCC
|
p.Arg1255Leufs*25
|
chr22:g.51160025_51160037delGGGCCCAGCCCCC
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
B2, B3e,f
|
c.4065_4066delTG
|
p.Val1357Glyfs*4
|
chr22:g.51160326_51160327delTG
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S10
|
c.4229delC
|
p.Pro1410Hisfs*18
|
chr22:g.51160490delC
|
Exon 21
|
Frameshift
|
De novo
|
Pathogenic
|
S11
|
c.4577_4578delCC
|
p.Ala1526Glufs*16
|
chr22:g.51160838_51160839delCC
|
Exon 22
|
Frameshift
|
De novo
|
Pathogenic
|
S12
|
c.4906_4921dupTCCCCCTCGCCGTCGC
|
p.Pro1641Leufs*58
|
chr22:g.51169450_51169465dupTCCCCCTCGCCGTCGC
|
Exon 22
|
Frameshift
|
De novo
|
Pathogenic
|
S13g
|
c.5008A>T
|
p.Lys1670*
|
chr22:g.51169552A>T
|
Exon 22
|
Nonsense
|
Non-maternal
|
Likely pathogenic
|
c.3872C>T
|
p.Ser1291Leu
|
chr22:g.51160133C>T
|
Exon 21
|
Missense
|
Non-maternal
|
Likely benign
|
S14
|
c.5014G>T
|
p.Asp1672Tyr
|
chr22:g.51169558G>T
|
Exon 22
|
Missense
|
De novo
|
Likely pathogenic
|