Table 2 Molecular lesions identified by whole-genome sequencing
AlleleAffected Gene(s)Nucleotide ChangeTranslational Change
5R12klcAG>GGTruncation due to mutated intron 2 acceptor
maelGAG>AAGE131 > R
12M9scaf6CAG>TAGQ560 > stop
3R7elg1TGG>TGAW212 > stop
11R2nudECAG>TAGQ33 > stop
5R4qmCAG>TAGQ116 > stop
11S5qmGCC > GTCA104 > V
1R8Tsc2/gigasAG>AATruncation due to mutated intron 11 acceptor
2R5Tsc2/gigasGTG > GAGV1726 > E
9R9Chd/WrbATAaccgtgtttaTCA > ATA—TCATruncation after 107 aa due to 10 bp deletion
13P2Chd/WrbTGG>TGAW158 > stop
11R5raspTAT>TAAY210 > stop
13P10raspATT|gtcacaat|GTC > ATTgtcacaat-HOBO-gtcacaatGTCInsertion of HOBO transposon at 177 aa
  • The mutated bases are underlined.