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. 2020 Sep 9;2(1):vdaa116. doi: 10.1093/noajnl/vdaa116

Table 2.

Genetics Table

Cachia 201422 Ellezam 201228 Ellezam 201228 Ellezam 201228 Eye 201729 Kitamura 201847 Kitamura 201847 Kitamura 201847 Lin 201651 Thommen 201374
PIK3CA Exon 9: G>A
E545K
Exon 9: A>G
E542K
Exon 20: >G
H1047R
Exon 20: A>G
H1047R
Exon 9: G>A
E545K
Wild type Wild type Exon 20: A>G
H1047R
Exon 20: A>G
H1047R
Exon 20: A>G
H1047R
FGFR1 NT NT NT NT NT Exon 14: A>G K656E
and
A>G D652G
Exon 14: A>G K656E
and
A>G D652G
Exon 12: C>A N546K
[Glial component only]
Exon 12: C>A
N546K
NT

NT, not tested.