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. 2019 Jan 25;21(8):1797–1807. doi: 10.1038/s41436-019-0433-1

Table 2.

Genomic information for each subject

Subject Variant coordinates (hg19) Variant type Inheritance
Patient 1 (Hao et al.,1 subject 1)

del(16)(p13.3p13.2)

4868744-9611741

 Deletion De novo
Patient 2 (Hao et al.,1 subject 2)

del(16)(p.13.2)

9051188-9142810

 Deletion De novo
Patient 3 (Hao et al.,1 subject 3)

del(16)(p13.3p13.2)

5752801-9017367

 Deletion De novo
Patient 4 (Hao et al.,1 subject 4)

del(16)(p13.3p13.2)

5426430-9169448

 Deletion De novo
Patient 5 (Hao et al.,1 subject 5)

del(16)(p.13.2)

8969652-9237005

 Deletion De novo
Patient 6 (Hao et al.,1 subject 7)

del(16)(p13.3p13.2)

8954155-9234037

 Deletion De novo
Patient 7

del(16)(p.13.2)

8969780-9211161

 Deletion De novo
Patient 8

del(16)(p13.2)

9085733-9054621

 Intragenic deletion De novo
Patient 9 (Hao et al.,1 subject 6) c.429C>G; p.Y143* Nonsense De novo
Patient 10 c.1728T>A; p.C576* Nonsense De novo
Patient 11 c.1737dup; p.G580fs Frameshifting indel De novo
Patient 12 c.2169_2170delAG; p.R723fs Frameshifting indel De novo
Patient 13 c.2297T>C; p.I766T Missense De novo
Patient 14 c.675 G>A; p.M225I Missense De novo
Patient 15 c.1117C>T; p.L373F Missense De novo
Patient 16 c.1175G>A; p.G392D Missense De novo
Patient 17 c.3238G>A; p.D1080N Missense De novo
Patient 18a c.1454T>G; p.V485G Missense De novo
Patient 19b c.1033G>A; p.E345K Missense De novo
Patient 20c c.2270T>C; p.L757P Missense De novo
Patient 21 c.3202+1G>T Splice-site De novo
Patient 22 c.3202+1G>T Splice-site De novo
Patient 23 c.383+1G>A; p.E83Hfsd Splice-site De novo

All variants based on NM_003470.2.

aPatient also has a variant in TMEM106B.

bPatient also has a de novo heterozygous 102.5-kb mosaic loss of uncertain significance at 10q21.1.

cPatient also has a de novo pathogenic variant in SLC2A1 (c.376C>T; p.R126C).

dProtein change was confirmed by messenger RNA (mRNA) sequencing.