|
ENST00000634296.2:c.*650G>T
|
ENSP00000489512.2:n.*650G>T
|
|
|
ENST00000673864.2:c.*1561G>T
|
ENSP00000501045.2:n.*1561G>T
|
|
|
ENST00000674147.2:c.2244+297G>T
|
ENSP00000500964.2:n.2244+297G>T
|
|
|
ENST00000242839.10:c.2817G>T
MANE Select
|
ENSP00000242839.5:p.Trp939Cys
|
|
|
ENST00000344297.9:c.2244+297G>T
|
ENSP00000342559.5:n.2244+297G>T
|
|
|
ENST00000400366.6:c.2484G>T
|
ENSP00000383217.3:p.Trp828Cys
|
|
|
ENST00000448424.7:c.2565G>T
|
ENSP00000416738.3:p.Trp855Cys
|
|
|
ENST00000673772.1:c.2583G>T
|
ENSP00000501168.1:p.Trp861Cys
|
|
|
ENST00000674147.1:c.1800+297G>T
|
ENSP00000500964.1:n.1800+297G>T
|
|
|
ENST00000242839.8:c.2817G>T
|
ENSP00000242839.4:p.Trp939Cys
|
|
|
ENST00000344297.8:c.2244+297G>T
|
ENSP00000342559.5:n.2244+297G>T
|
|
|
ENST00000400366.5:c.2484G>T
|
ENSP00000383217.3:p.Trp828Cys
|
|
|
ENST00000400370.8:c.1527G>T
|
ENSP00000383221.3:p.Trp509Cys
|
|
|
ENST00000418097.7:c.2817G>T
|
ENSP00000393343.2:p.Trp939Cys
|
|
|
ENST00000448424.6:c.2583G>T
|
ENSP00000416738.2:p.Trp861Cys
|
|
|
ENST00000634296.1:c.778G>T
|
|
|
|
ENST00000634308.1:c.2583G>T
|
ENSP00000489234.1:p.Trp861Cys
|
|
|
ENST00000634620.1:n.3609+6G>T
|
|
|
|
ENST00000634810.1:n.2162G>T
|
|
|
|
ENST00000634844.1:c.2673G>T
|
ENSP00000489398.1:p.Trp891Cys
|
|
|
ENST00000635406.1:n.212-3232G>T
|
|
|
|
NM_000053.3:c.2817G>T
|
NP_000044.2:p.Trp939Cys
|
|
|
NM_001005918.2:c.2244+297G>T
|
NP_001005918.1:n.2244+297G>T
|
|
|
NM_001243182.1:c.2484G>T
|
NP_001230111.1:p.Trp828Cys
|
|
|
XM_005266423.2:c.2721G>T
|
XP_005266480.1:p.Trp907Cys
|
|
|
XM_005266424.3:c.2721G>T
|
XP_005266481.1:p.Trp907Cys
|
|
|
XM_005266427.2:c.2583G>T
|
XP_005266484.1:p.Trp861Cys
|
|
|
XM_005266428.1:c.2565G>T
|
XP_005266485.1:p.Trp855Cys
|
|
|
XM_005266430.3:c.2817G>T
|
XP_005266487.1:p.Trp939Cys
|
|
|
XM_005266431.2:c.2781G>T
|
XP_005266488.1:p.Trp927Cys
|
|
|
XM_005266432.2:c.2331G>T
|
XP_005266489.1:p.Trp777Cys
|
|
|
XM_006719837.2:c.2721G>T
|
XP_006719900.1:p.Trp907Cys
|
|
|
XM_006719838.1:c.633G>T
|
XP_006719901.1:p.Trp211Cys
|
|
|
XM_006719839.1:c.633G>T
|
XP_006719902.1:p.Trp211Cys
|
|
|
XM_011535117.1:c.2721G>T
|
XP_011533419.1:p.Trp907Cys
|
|
|
XM_011535118.1:c.2730+297G>T
|
XP_011533420.1:n.2730+297G>T
|
|
|
XM_011535119.1:c.2817G>T
|
XP_011533421.1:p.Trp939Cys
|
|
|
XM_011535120.1:c.2403G>T
|
XP_011533422.1:p.Trp801Cys
|
|
|
XM_011535121.1:c.2730+297G>T
|
XP_011533423.1:n.2730+297G>T
|
|
|
XM_011535122.1:c.1485G>T
|
XP_011533424.1:p.Trp495Cys
|
|
|
XR_941601.1:n.3036G>T
|
|
|
|
XR_941602.1:n.3036G>T
|
|
|
|
XR_941603.1:n.3036G>T
|
|
|
|
XR_941604.1:n.3036G>T
|
|
|
|
NM_001330578.1:c.2583G>T
|
NP_001317507.1:p.Trp861Cys
|
|
|
NM_001330579.1:c.2565G>T
|
NP_001317508.1:p.Trp855Cys
|
|
|
XM_005266424.4:c.2721G>T
|
XP_005266481.1:p.Trp907Cys
|
|
|
XM_005266430.4:c.2817G>T
|
XP_005266487.1:p.Trp939Cys
|
|
|
XM_005266431.4:c.2781G>T
|
XP_005266488.1:p.Trp927Cys
|
|
|
XM_006719837.3:c.2721G>T
|
XP_006719900.1:p.Trp907Cys
|
|
|
XM_011535117.3:c.2721G>T
|
XP_011533419.1:p.Trp907Cys
|
|
|
XM_017020627.1:c.2721G>T
|
XP_016876116.1:p.Trp907Cys
|
|
|
NM_000053.4:c.2817G>T
MANE Select
|
NP_000044.2:p.Trp939Cys
|
|
|
NM_001005918.3:c.2244+297G>T
|
NP_001005918.1:n.2244+297G>T
|
|
|
NM_001330579.2:c.2565G>T
|
NP_001317508.1:p.Trp855Cys
|
|
|
NM_001243182.2:c.2484G>T
|
NP_001230111.1:p.Trp828Cys
|
|
|
NM_001330578.2:c.2583G>T
|
NP_001317507.1:p.Trp861Cys
|
|
