ID | Coding DNA changea | Protein changeb | Genomic change (hg19) | Location | Effect | Inheritance | Variant classification [25] |
---|---|---|---|---|---|---|---|
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 |