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. 2019 Nov 26;7:485. doi: 10.3389/fped.2019.00485

Table 1.

Overview about the p.(Gly624Asp) in COL4A5-associated clinical phenotype and the genetic zygosity of the affected family members.

Individual Zygosity Current age or age at death Age at microscopic hematuria Age at mircoalbuminuria or proteinuria Age at dialysis Age at transplantation
III-3 n.d. 89 years; n.d. n.d. n.d. n.d.
IV-1 n.d. 75 years; n.d. n.d. 70 years n.p.
IV-2 n.d. 34 years; n.d. n.d. 33 years n.d.
IV-3 n.d. 56 years; n.d. n.d. 49 years 56 years
IV-4 heterozygous 78 years n.d. n.d. n.y. n.y.
IV-4 n.d. 84 years n.d. 23 years n.y. n.y.
IV-8 n.d. n.d.; n.d. n.d. n.d. n.d.
IV-3 homozygous 52 years 20 years 41 years n.y. n.y.
VI-3 heterozygous 21 years 6 months 4 years n.y. n.y.
VI-4 hemizygous 19 years 1 year 10 months 1 year 10 months n.y. n.y.

n.d., no data available; n.p., not performed; n.y., not yet;

, deceased.