Table 1. Sequence variants shared by families 6006 and 6043 from Sanger sequencing.
Genomic variantsa | dbSNP ID | Gene | Variant type | MAFb |
---|---|---|---|---|
chr 6: 79595097 A>G | rs6908105 | IRAK1BP1 | Synonymous | 0.27 |
chr 6: 79656562 A>T | rs2275291 | PHIP | Synonymous | 0.24 |
chr 6: 79656570 C>T | rs2275290 | PHIP | Synonymous | 0.28 |
chr 6: 79657391 C>T | rs1984195 | PHIP | Synonymous | 0.51 |
chr 6: 79664440 A>G | rs9443632 | PHIP | Intronic | 0.52 |
chr 6: 79664748 A>G | rs10455356 | PHIP | Intronic | 0.52 |
chr 6: 79675701 T>C | rs9350797 | PHIP | Missense p.L1093P | 0.22 |
chr 6: 79679577 T>C | rs7742431 | PHIP | Synonymous | 0.55 |
chr 6: 79695029 G>A | rs1890229 | PHIP | Intronic | 0.52 |
chr 6: 79707923 G>A | rs11752126 | PHIP | Intronic | 0.39 |
chr 6: 79752792 T>C | rs9343863 | PHIP | Intronic | 0.51 |
a Genomic coordinates were based on GRCh37.
b Minor allele frequency (MAF) obtained from the 1000 Genomes Project.