Table 1 The results of whole exome sequencing
Family members | Gene | Position | Variants | RS/HGMD-ID | Hom/Het/Hemi* | ACMG grade |
|---|---|---|---|---|---|---|
Patient | PKHD1 NM_170724 exon24 | chr6:51910887 | c.2507 T > C p.V836A | rs199568593 | Het | Pathogenic/ likely pathogenic |
PKHD1 NM_170724 exon60 | chr6:51609183 | c.10156G > C p.V3386L | - | Het | Pathogenic/ likely pathogenic | |
Sister | PKHD1 NM_170724 exon24 | chr6:51910887 | c.2507 T > C p.V836A | rs199568593 | Het | Pathogenic/ likely pathogenic |
PKHD1 NM_170724 exon60 | chr6:51609183 | c.10156G > C p.V3386L | - | Het | Pathogenic/ likely pathogenic | |
Father | PKHD1 NM_170724 exon24 | chr6:51910887 | c.2507 T > C p.V836A | rs199568593 | Het | Pathogenic/ likely pathogenic |
Mother | PKHD1 NM_170724 exon60 | chr6:51609183 | c.10156G > C p.V3386L | - | Het | Pathogenic/ likely pathogenic |