Table 1.

ADPKD mutations detected by LR-PCR and Sanger’s sequencing.

Family	Exon	Variant DNA	Variant Protein	Mutation Type	Reference
1	46	c.12627_12655dup29	p.Phe4219fs	Duplication/Frameshift	Novel
2	41	c.11524 T > C	p.Trp3842Arg	Missense	Novel
3	43	c.11863dupC	p.Gln3955fs*6	Duplication/Frameshift	Novel
4	40	c.11339_11347delATTACGACG	p.Asp3780_Asp3782del	Deletion/Framshift	Novel
5	15†	c.5014_5015delAG	p.Arg1672Glyfs*98	Deletion/Frameshift	[15]
6	15	c.6727 C > T	p.Gln2243*	Nonsense	[28]

^†Mutation could not be detected by WES.