Genetic analyses
| Mutation . | Type . | Location . | 1000G . | ExAc . | SIFT . | LRT . | Mutation taster . | CADD Phred . |
|---|---|---|---|---|---|---|---|---|
| NM_001142864:c.G5828A:p.R1943Q | Missense | Exon 41 | 0.00739 | 0.0025 | 0.57 | 0.096 | 1 | 15.18 |
| NM_001142864:c.C6262G:p.R2088G | Missense | Exon 43 | 0 | 0 | 0.18 | 0 | 1 | 32 |
| NM_001142864:c.G7463A:p.R2488Q | Missense | Exon 51 | 0 | 4.81E-05 | 0.02 | 0 | 1 | 35 |
| NM_001142864:c.G6905A:p.R2302H | Missense | Exon 47 | 0 | 0.0003 | 0.37 | 0 | 1 | 28 |
| NM_001142864:c.5632_5634del:p.1878_1878del | Deletion | Exon 39 | 0.21 | 0.35 | NA | NA | NA | NA |
| NM_001142864:c.7479_7484dup:p.L2495_E2496dup | Insertion | Exon 51 | 0 | 0 | NA | NA | NA | NA |
| Mutation . | Type . | Location . | 1000G . | ExAc . | SIFT . | LRT . | Mutation taster . | CADD Phred . |
|---|---|---|---|---|---|---|---|---|
| NM_001142864:c.G5828A:p.R1943Q | Missense | Exon 41 | 0.00739 | 0.0025 | 0.57 | 0.096 | 1 | 15.18 |
| NM_001142864:c.C6262G:p.R2088G | Missense | Exon 43 | 0 | 0 | 0.18 | 0 | 1 | 32 |
| NM_001142864:c.G7463A:p.R2488Q | Missense | Exon 51 | 0 | 4.81E-05 | 0.02 | 0 | 1 | 35 |
| NM_001142864:c.G6905A:p.R2302H | Missense | Exon 47 | 0 | 0.0003 | 0.37 | 0 | 1 | 28 |
| NM_001142864:c.5632_5634del:p.1878_1878del | Deletion | Exon 39 | 0.21 | 0.35 | NA | NA | NA | NA |
| NM_001142864:c.7479_7484dup:p.L2495_E2496dup | Insertion | Exon 51 | 0 | 0 | NA | NA | NA | NA |
SIFT, LRT, Mutation Taster, and CADD scores are from predicted mutation effect scores obtained from the Annovar database (http://annovar.openbioinformatics.org/en/latest/). Scores of 0 are predicted to be damaging by the SIFT and LRT algorithms whereas scores of 1 are predicted to be tolerated. The scale is inverted for the Mutation Taster algorithm.
1000G, Allele frequency in the Thousand Genomes database (http://www.internationalgenome.org/); CADD, combined annotation-dependent depletion; ExAc, ExAc Browser database (http://exac.broadinstitute.org/); LRT, likelihood ratio test; NA, not applicable; SIFT, sorting intolerant from tolerant.