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. 2011 Aug;22(8):1551–1559. doi: 10.1681/ASN.2010080795

Table 2.

Novel sequence variants found in DDD patients

Gene Variant Patients ConSeq PolyPhen SIFT Align GVGD
C3 c0.3607 A>G p.K1203R 1 1 Benign Affects protein function Least likely to interfere with function
C3aR1 c0.250 C>T p.L84F 2 4 Possibly damaging Tolerated Least likely to interfere with function
CR1 c0.3664 G>T p.V1222L 1 2 Benign Tolerated Least likely to interfere with function
ADAM19 c0.1522 G>A p.G507S 1 1 Benign Tolerated Most likely to interfere with function