New variants
/the following variants have been added:
c.455C>A p.(Ala152Asp) 6 Likely pathogenic PMb, PPb, PPc
c.6599C>T p.(Ala2200Val) 40 Likely pathogenic PMb, PPa, PPc
c.6757C>T p.(His2253Tyr) 41 Likely pathogenic PMb, PPb, PPc
c.7123G>A p.(Gly2375Arg) 44 Likely pathogenic PMb, PPb,PPc
c.11958C>G p.(Asp3986Glu) 87 Likely pathogenic PMb, PPa, PPc
