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Table 1 DYRK1A variant information for UW-SNV mutation patients

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Patient Position Type of mutation cDNA Protein Inheritance
1 21:38865466 Splice site c.1098+1G>A De novo
2 21:38845116 Frameshift c.143_144delTA p.Ile48Lysfs*2 De novo
3 21:38877833 Frameshift c.1491delC p.Ala498Profs*61 De novo
4 21:38868533 Frameshift c.1217_1220delAGAA p.Lys406Argfs*44 De novo
5 21:38862575 Nonsense c.763C>T p.Arg255* De novo
6 21:38877746 Frameshift c.1401delAinsGG p.Ile468Aspfs*17 De novo
7 21:38853064 Frameshift c.452dupA p.Asn151Lysfs*12 Not maternal
8 21:38862695 Missense c.883C>T p.Leu295Phe De novo
9 21:38862463 Splice site c.665-8_665-3delTCTTTC De novo
10 21:38877590 Frameshift c.1248delA p.Lys416Asnfs*35 De novo
  1. Variant information for UW-SNV patients using NCBI reference sequence for DYRK1A isoform NM_101395.2, GRCh37 (hg19) build version (Ensembl id: ENST00000338785). This isoform was selected because it was the highest expressing isoform in human tissues in the GTEx database [https://gtexportal.org/home/gene/DYRK1A]) [53]. Patients 1–3 were first identified through the Simons Simplex Collection, patients 4–10 underwent clinical genetic testing prior to research participation. cDNA and protein (NP_567824.1) annotation follows HGVS guidelines