g.2452561A>Tg.2452561A>T
c.401T>Ac.401T>A
p.Ile134Asnp.Ile134Asn
probably damagingprobably damaging
g.2444323C>Tg.2444323C>T
c.1727+4G>Ac.1727+4G>A
p.?p.?
damagingdamaging