g.147380433G>Cg.147380433G>C
c.351G>Cc.351G>C
p.Gln117Hisp.Gln117His
probably damagingprobably damaging
g.147380104G>Ag.147380104G>A
c.22G>Ac.22G>A
p.Gly8Argp.Gly8Arg