Table 1. ZIC2 enhancer mutational screening and control results by TaqMan Assay.
| Variant | Subject | # cases/total | MAF cases (%) | #controls/total | # controls/caucasian | # controls/ethnically matched | MAF controls (%) |
| c.1599*456G>A | rs13542 dbSNP | N.T. | - | - | - | - | 33.0 |
| c.1599*578T>A | LCL1349a | 1/528 | 0.095 | 0/456 | 0/380 | 0/76 (Brazilian) | 0 |
| c.1599*587G>T | FB9622, LCL7282, LCL6386 | 3/528 | 0.28 | 5/380 | 5/380 | - | 0.66 |
| c.1599*836C>T | Brz-2172b | 1/528 | 0.095 | 0/372 | 0/288 | 0/75 (Brazilian) | 0 |
| c.1599*889T>C | AM6632 | 1/528 | 0.095 | 0/379 | 0/279 | 0/95 (Asian) | 0 |
| c.1599*899A>G | LCL301; LCL7897c | 2/528 | 0.19 | 0/377 | 0/377 | - | 0 |
| c.1599*954T>A | Brz-37d | 1/528 | 0.095 | 0/452 | 0/367 | 0/76 (Brazilian) | 0 |
| c.1599*966A>G | LCL7828e | 1/528 | 0.095 | 0/375 | 0/375 | - | 0 |
a
De novo, parental testing confirms biological relatedness of parental DNA; b Variant allele in cis with a ZIC2 c.1215dupC (p.Ser406Glnfs*91) based on co-amplification and subcloning; c Subject LCL7897 is the affected sibling of proband LCL301 (both are carriers of a SHH p.Cys24* mutation, see Table S1). d Described as de novo based on normal sequence of both parents (done in Brazil). e Proband also has novel mutations in TGIF (c.289A>G, p.Met97Val). SNPs are highlighted in bold.