Table 2.
Families 1,2,3 | Family 4 | Family 5 | Family 6 | |
---|---|---|---|---|
Genomic position (hg19) | 8: 92,090,611 | 8: 92,090,647–92,090,651 | 8: 92,083,364 | 8: 92,090,825 |
Exon/Intron | exon 4 | exon 4 | intron 1 | exon 4 |
Nucleotide change | c.433C>T | c.469_473delTTAAC | c.173−2A>G | c.647A>G |
Protein change | p.Arg145∗ | p.Leu157Argfs∗8 | – | p.Tyr216Cys |
Allele Frequency in ExAC | ||||
Total | 8/43,688 = 0.00018 | not present | not present | not present |
Latino | 5/1,898 = 0.0026 | – | – | – |
African | 1/4,386 = 0.000023 | – | – | – |
South Asian | 2/8,864 = 0.000023 | – | – | – |
Number of homozygotes | none | – | – | – |
Allele Frequency in gnomAD | ||||
Total | 32/239,902 = 0.00013 | not present | not present | not present |
Latino | 25/31,718 = 0.00079 | – | – | – |
African | 1/22,484 = 0.000044 | – | – | – |
South Asian | 1/25,966 = 0.000039 | – | – | – |
Number of homozygotes | none | – | – | – |
SIFT | – | – | – | deleterious |
PolyPhen2 | – | – | – | probably damaging |
Variant nomenclature is based on GenBank: NM_016023.3. Abbreviations are as follows: ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database.