Patients (P) | Chr position sur (GRCh37) | Variants | cDNA | mRNA | amino acid | SnRatio | Score | Molecular consequence | dbSNP |
P1 | Y:2655399 | 884 T > TA | c.246 | c.384 | p.82Asn > Lys | 3.15 | 22.85 | non-synonymous | novel |
P2 | Y:2655474 | 809 G > GC | c.171 | c.309 | p.57Gln > His | 1.54 | 8.91 | non-synonymous | novel |
Y:2655014 | 1269 T > A | c.*16 | c.769 | …………. | 4.29 | 53.53 | variante 3'UTR | rs1361161627 |