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Table 4 Pathogenicity prediction of SLC25A19 variants

From: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Patients Gene Transcript Variants SIFT Plyphen-2 Mutation taster CADD
1 SLC25A19 NM_00112
c.169G>C p.Ala57Thr D PD D D
c.383C>T p.Ala128Val D PD D D
2 and 3    c.76G>A p.Gly26Arg D PD D D
c.745T>A p.Phe249Ile D PD D D