The URLs for data presented herein are as follows:dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/
Human Genome Variation Society, http://www.hgvs.org/mutnomen/
Online Mendelian Inheritance in Man (OMIM), http://www.omim.org/
NHLBI Exome Sequencing Project (ESP) Exome Variant Server, http://evs.gs.washington.edu/EVS/
RefSeq, http://www.ncbi.nlm.nih.gov/RefSeq