1.PKD1 chr16:2158269 NM_001009944.2:c.6899delG, (p.Cys2300Leufs*14) EX15/CDS15, (het/Father het/Mother wt,p) PKD type1, (OMIM:173900)/AD; 2.PKD1 chr16:2162862 NM_001009944.2:c.3088G>A, (p.Val1030Met) EX13/CDS13, (het/Father wt/Mother het vous) AD; 3.COL4A3 chr2:228131184–228131186 NM_000091.4:c.1367_1369del, ATC (p.Tyr456del)EX22/CDS22, (het/Father wt/Mother het, lp) Autosomal dominant Alport syndrome (OMIM:104200)/AD, Benign familial hematuria (OMIM:141200)/AD, Autosomal recessive Alport syndrome type 2 (OMIM:203780)/AR. Here, PKD1 is linked to Benign familial neonatal seizures.