Variant
Predicted amino acid change
Splicing assay in literature
Mean RNA score (Findlay et al., 2018) ClinVar Classification (28-Feb-2020)
c.196A>T p.(Asn66Tyr) No record -3.836201203 N/A
c.253G>A p.(Glu85Lys) No record -2.588684303 N/A
c.257T>G p.(Leu86Arg) No record -2.109971236 N/A
c.261G>T p.(Leu87Phe) No record -2.338647117 N/A
c.4938C>A p.(Val1646=) No record -2.200191231 N/A
c.5007C>T p.(Ala1669=) No record -2.172296931 Likely benign
c.5044G>A p.(Glu1682Lys) No record -3.922769452 Benign
c.5044G>C p.(Glu1682Gln) No record -2.077097565 Uncertain significance
c.5045A>T p.(Glu1682Val) No record -3.19611471 Uncertain significance
c.5046A>T p.(Glu1682Asp) No record -2.279964014 N/A
c.5047G>A p.(Glu1683Lys) No record -2.845610337 N/A
c.5047G>C p.(Glu1683Gln) No record -2.665637918 N/A
c.5048A>G p.(Glu1683Gly) No record -2.717632186 N/A
c.5051C>T p.(Thr1684Ile) No record -2.256440077 N/A
c.5054C>A p.(Thr1685Asn) No record -2.926076348 N/A
c.5054C>G p.(Thr1685Ser) No record -3.51332298 N/A
c.5066T>G p.(Met1689Arg) No record -2.582200979 Pathogenic/Likely pathogenic
c.5078C>T p.(Ala1693Val) No record -2.19424566 Uncertain significance
c.5080G>A p.(Glu1694Lys) YES (Houdayer et al., 2012); co-located variants c.5080G>T (Goina, Skoko, & Pagani, 2008; Mazoyer et al., 1998) and c.5078_5080del (Campos et al., 2003) lead to exon skipping -2.93457224 Uncertain significance
c.5123C>G p.(Ala1708Gly) No record; co-located variant c.5123C>A§ leads to minor exon skipping (Millevoi et al., 2010; Sanz et al., 2010) -3.080698027 N/A
c.5127A>G p.(Gly1709=) No record -2.143205298 N/A
c.5130A>G p.(Gly1710=) No record -2.826582097 N/A
c.5137G>T p.(Val1713Leu) No record -4.026139955 N/A
c.5430G>C p.(Val1810=) No record -4.027269569 N/A
c.5434C>G p.(Pro1812Ala) YES (Gaildrat et al., 2010; Théry et al., 2011) -4.854622646 Pathogenic/Likely pathogenic​
c.5441C>G p.(Ala1814Gly) No record -5.847427008 N/A
c.5444G>C p.(Trp1815Ser) No record -2.530289371 Uncertain significance
c.5445G>C p.(Trp1815Cys) No record -5.45381894 N/A
c.5453A>G p.(Asp1818Gly) YES (Rouleau et al., 2010) -4.429910618 Conflicting: Likely pathogenic(2); Pathogenic(3); Uncertain significance(2)
c.5472T>G p.(Ile1824Met) No record -2.325563519 N/A
c.5528C>A p.(Ala1843Glu) No record -2.158302832 Uncertain significance
c.5546A>C p.(Glu1849Ala) No record -2.541769038 N/A
c.5546A>T p.(Glu1849Val) No record -2.880877731 N/A