Polycystic kidney disease 1 Gene symbol : PKD1 Location : 16p13

Nucleotide substitutions -	Missense/nonsense	Splicing
Small lesions -	Small deletions	Small insertions
HGMD options -	HGMD search	HGMD help	HGMD home	Mutation map	cDNA sequence
External links -	OMIM entry	GDB entry	PKD database

Accession Number	Location/ codon	Deletion	Disease state	Reference
CD971762	I31	GGGGGTCCTGggctgggctgggggtcctgCCGCCTTGGC	Polycystic kidney disease 1	1
CD951782	I43	GGCTGGGCCGgtgggcgcggggctgggcGCACACCCCA	Polycystic kidney disease 1	2
CD971763	2814	TCAGC^GGGGCcCTGGCCAACC	Polycystic kidney disease 1	1
CD971764	3029	GACAGAG^GGGcTGCTGCCCCT	Polycystic kidney disease 1	1
CD961981	3748	CCCACGG^CTGcggcaggtgcggctgCAGGAAGGTG	Polycystic kidney disease 1	3
CD971765	4175	ATGTG^CCCCCaCCCAGCGCTG	Polycystic kidney disease 1	1
CD951783	E43I43	AG^GTGAGGGCtgggccggtgggcgcggggcTGGGCGCACA	Polycystic kidney disease 1	2

References

1 - Peral (1997) Am J Hum Genet 60, 1399

2 - Peral (1995) Hum Mol Genet 4, 569

3 - Peral (1996) Am J Hum Genet 58, 86