A splicing donor mutation in the intron between the first two coding exons (G-A mutation), which possibly leads to alternative splicing followed by a premature stop codon at base 1125 (L362STOP).
Nucleotide substitution: G?A.
G5748919A
G1050A
G to A substitution in the splice donor site between the first two exons.
Rtel1xp157 is rescued by Rtel1fTRG01096.sfGFP-TVPTBF