Variant | Predicted function | Number of cases | |
---|---|---|---|
c.1377-25 T > A | Likely non-pathogenic | Previously reported | 1**** |
c.1509 + 32A > G, rs144973109 | Likely non-pathogenic | Previously reported | 2 |
c.1907 + 43C > T, rs11624081 | Likely non-pathogenic | Previously reported | 6* |
c.1907 + 105C > T, rs2275182 | Likely non-pathogenic | Previously reported | 2* |
c.1935G > A p.P645P, rs61751177 | Likely non-pathogenic | Previously reported | 2§ |
c.2041-91A > G, rs2297730 | Likely non-pathogenic | Previously reported | 6, 1***, 1§§§ |
c.2116 + 59insA | Likely non-pathogenic | Novel | 1*** |
c.2116 + 65A > T, rs187825570 | Likely non-pathogenic | Previously reported | 1** |
c.2804 + 62C > T, rs117996122 | Likely non-pathogenic | Previously reported | 1§§ |
c.2805-129G > A | Likely non-pathogenic | Novel | 1 |
c.2997 T > G p. L999L, rs12018992 | Likely non-pathogenic | Previously reported | 1*** |
c.3093 + 178 T > C, rs17091820 | Likely non-pathogenic | Previously reported | 1*** |
c.5145C > T p. L1715L, rs139500905 | Likely non-pathogenic | Previously reported | 1 |
c.*88 T > A, rs13078 | Likely non-pathogenic | Previously reported | 15 |