g.72511968C>A
c.2714C>A
p.Pro905Gln
benign
g.72509640C>T
c.2326C>T
p.Arg776Trp
probably damaging
g.72462194G>T
c.649G>T
p.Ala217Ser
g.72493645G>A
c.1213G>A
p.Gly405Ser
g.72492011G>A
c.1104G>A
p.Gly368Gly (Splice)
damaging
g.72520504G>A
c.3567G>A
p.Trp1189X