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