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 |