1.PKHD1 chr6:51513947 NM_138694.3:c.11246C>T, (p.Pro3749Leu) EX62/CDS61 (het,vous) PKD type 4 with or without polycystic liver disease (OMIM:2632 00)/AR, Mother het. Here, PKHD1 is linked to Isolated polycystic liver disease.