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Table 2 The results of the genomic sequence analysis

From: Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report

COL4A3

 c.127G > C

p.G43R

heterozygous

benign

 c.422 T > C

p.L141P

homozygous

benign

 c.485A > G

p.E162G

homozygous

benign

 c.805G > A

p.E269K

heterozygous

benign/likely benign

 c.1721C > T

p.P574L

heterozygous

benign

COL4A4

 c.839 T > G

p.M280R

heterozygous

unreported

 c.1444C > T

p.P482S

heterozygous

benign

 c.2656C > A

p.L886I

heterozygous

synonymous

 c.3011C > T

p.P1004L

heterozygous

benign

 c.3979G > A

p.V1327 M

homozygous

benign

 c.4207 T > C

p.S1403P

homozygous

benign