Gene | region | Nucleotide change | Reference transcript | Amino acid change | Chromosomal location | Hom /Het* |
---|---|---|---|---|---|---|
LAMB2 | Exon9 | c.1176_1178delTCT | NM_002292.3 | p. Phe392del | Chr3:49167708 | Het |
LAMB2 | Intron29 | c.4923 + 2 T > G | - | Chr3:49159375 | Het | |
NPHP1 | Exon 8 | c.922 T > C | NM_000272.3 | p.Ser308Pro | Chr2:110922114 | Het |
NPHP1 | Exon 17 | c.1757G > A | p.Arg586Gln | Chr2:110889309 | Het |