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. Author manuscript; available in PMC: 2013 Jun 27.
Published in final edited form as: Kidney Int. 2011 Aug 24;81(1):94–99. doi: 10.1038/ki.2011.297

Table 3.

In silico prediction of effect of variants

Mutations Predicted effect HumVar-Polyphen score
Exon4 608C>A, A203D* Probably damaging 0.997
Exon4 550G>C, E184Q* Probably damaging 0.995
Exon4 530G>A, R177H Probably damaging 0.997
Exon4 653G>A, R218Q Probably damaging 0.996
Exon4 605A>G, N202D* Probably damaging 0.992
Exon4 641G>A, R214H Probably damaging 0.997
Exon4 641C>T, R214C Probably damaging 0.997
*

New mutations in this study