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. 2017 Oct 12;8(61):102769–102782. doi: 10.18632/oncotarget.21800

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.