g.984346C>Tg.984346C>T
c.4205C>Tc.4205C>T
p.Ala1402Valp.Ala1402Val
benignbenign
g.976885C>Ag.976885C>A
c.980C>Ac.980C>A
p.Pro327Glnp.Pro327Gln
g.986963C>Tg.986963C>T
c.5501C>Tc.5501C>T
p.Pro1834Leup.Pro1834Leu
probably damagingprobably damaging
g.983274T>Gg.983274T>G
c.3750T>Gc.3750T>G
p.Phe1250Leu (Splice)p.Phe1250Leu (Splice)
possibly damagingpossibly damaging