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Table 2 List of novel and functional variants in run-of-homozygosity regions

From: Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Chromosome Position Reference allele Variant allele Variant calling/coverage Gene Amino acid change PhyloP score
8 103313660 G A 58/58 RRM2B Pro33Ser 6.741
1 39620317 G A 5/7* MACF1 Arg2523Gln; Arg3025Gln 5.329
4 107449465 A C 63/63 MGC16169 Asn34Lys 5.199
22 15980313 C T 5/5* LOC100287323 Val569Ile 4.997
11 64117795 G A 4/4* SLC22A12 Trp37Stp; Trp258Stp 4.945
10 29010439 G C 24/24 BAMBI Gly108Ala 4.878
20 49482400 G A 4/4* NFATC2 Ala778Val 4.437
1 238437608 C T 10/12 FMN2 Pro1101Leu 3.804
1 85362528 T - 65/69 WDR63 Splice site 3.503
3 99094433 A G 24/34 DKFZp667G2110 Lys546Glu 3.299
3 336547 T G 23/23 CHL1 Ser30Ala 3.014
3 46595758 C G 27/40* LRRC2 Arg41Gly 2.522
4 169335658 A C 9/13* ANXA10 Thr193Pro 2.257
5 140538797 C T 127/127 PCDHB8 Thr333Ile 2.011
  1. Variants with PhyloP score > 2 are listed. Asterisks indicate variants with coverage < 8× or a variant calling/coverage ratio < 0.7; the reliability of these variant calls is generally lower than that of the others.