Database of variants at PTCHD1: under construction

1. Deletions encompassing PTCHD1

Table 1 (updated 1 April 2015)

2. Missense variants in PTCHD1

Table 2 (updated 7 April 2015)

3. Nonsense and frameshifting mutations in PTCHD1

Table 3_June2017 Table 3 (updated 26 July 2017)

4. Deletions upstream of PTCHD1, encompassing PTCHD1AS1-3/DDX53

Table 4 (added 1 April 2015)

Also, for PTCHD1 missense and synonymous variants in NCBI database, see: http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?showRare=on&chooseRs=coding&go=Go&locusId=139411

Also, see  The Exome Aggregation Consortium (ExAC) http://exac.broadinstitute.org/, data set provided includes 61,486 unrelated individuals sequenced as part of various disease-specific and population genetic studies.

For DECIPHER records, go to https://decipher.sanger.ac.uk/index.