|
ENST00000449636.6:c.825C>A
(BSCL2)
|
ENSP00000405265.2:p.Val275=
|
|
|
ENST00000463679.6:n.1401C>A
(BSCL2)
|
|
|
|
ENST00000524862.6:c.1317C>A
(BSCL2)
|
ENSP00000433888.2:p.Val439=
|
|
|
ENST00000682003.1:n.1705C>A
(BSCL2)
|
|
|
|
ENST00000682223.1:c.*50C>A
(BSCL2)
|
ENSP00000508140.1:n.*50C>A
|
|
|
ENST00000682262.1:c.*379C>A
(BSCL2)
|
ENSP00000507103.1:n.*379C>A
|
|
|
ENST00000682555.1:c.*428C>A
(BSCL2)
|
ENSP00000507814.1:n.*428C>A
|
|
|
ENST00000682644.1:n.2144C>A
(BSCL2)
|
|
|
|
ENST00000682794.1:n.1834C>A
(BSCL2)
|
|
|
|
ENST00000683025.1:c.*1102C>A
(BSCL2)
|
ENSP00000507028.1:n.*1102C>A
|
|
|
ENST00000683193.1:n.1127C>A
(BSCL2)
|
|
|
|
ENST00000683296.1:c.1326C>A
(BSCL2)
|
ENSP00000507725.1:p.Val442=
|
|
|
ENST00000683368.1:n.1715C>A
(BSCL2)
|
|
|
|
ENST00000683494.1:n.3197C>A
(BSCL2)
|
|
|
|
ENST00000683846.1:n.1657C>A
(BSCL2)
|
|
|
|
ENST00000683892.1:n.1957C>A
(BSCL2)
|
|
|
|
ENST00000684067.1:c.1275C>A
(BSCL2)
|
ENSP00000506799.1:p.Val425=
|
|
|
ENST00000684115.1:n.1898C>A
(BSCL2)
|
|
|
|
ENST00000684258.1:n.2090C>A
(BSCL2)
|
|
|
|
ENST00000684285.1:c.*824C>A
(BSCL2)
|
ENSP00000507669.1:n.*824C>A
|
|
|
ENST00000684475.1:c.1182C>A
(BSCL2)
|
ENSP00000507429.1:p.Val394=
|
|
|
ENST00000684609.1:n.2238C>A
(BSCL2)
|
|
|
|
ENST00000684720.1:n.3098C>A
(BSCL2)
|
|
|
|
ENST00000360796.10:c.1317C>A
(BSCL2)
MANE Select
|
ENSP00000354032.5:p.Val439=
|
|
|
ENST00000679883.1:c.1317C>A
(BSCL2)
|
ENSP00000505838.1:p.Val439=
|
|
|
ENST00000278893.11:c.*119C>A
(BSCL2)
|
ENSP00000278893.7:n.*119C>A
|
|
|
ENST00000301781.10:c.*428C>A
(BSCL2)
|
ENSP00000301781.5:n.*428C>A
|
|
|
ENST00000360796.9:c.1317C>A
(BSCL2)
|
ENSP00000354032.5:p.Val439=
|
|
|
ENST00000403098.6:c.186-18C>A
(BSCL2)
|
ENSP00000384258.2:n.186-18C>A
|
|
|
ENST00000403550.5:c.1125C>A
(BSCL2)
|
ENSP00000385561.1:p.Val375=
|
|
|
ENST00000403734.2:c.*1368C>A
(HNRNPUL2-BSCL2)
|
ENSP00000456010.1:n.*1368C>A
|
|
|
ENST00000405837.5:c.1323C>A
(BSCL2)
|
ENSP00000385332.1:p.Val441=
|
|
|
ENST00000407022.7:c.1125C>A
(BSCL2)
|
ENSP00000384080.3:p.Val375=
|
|
|
ENST00000421906.5:c.1125C>A
(BSCL2)
|
ENSP00000413209.1:p.Val375=
|
|
|
ENST00000449636.5:c.381C>A
(BSCL2)
|
ENSP00000405265.1:p.Val127=
|
|
|
ENST00000463679.5:n.720C>A
(BSCL2)
|
|
|
|
ENST00000470529.5:n.349C>A
(BSCL2)
|
|
|
|
NM_001122955.3:c.1317C>A
(BSCL2)
|
NP_001116427.1:p.Val439=
|
|
|
NM_001130702.2:c.*119C>A
(BSCL2)
|
NP_001124174.2:n.*119C>A
|
|
|
NM_032667.6:c.1125C>A
(BSCL2)
|
NP_116056.3:p.Val375=
|
|
|
NR_037946.1:n.3837C>A
(HNRNPUL2-BSCL2)
|
|
|
|
NR_037948.1:n.1919C>A
(BSCL2)
|
|
|
|
NR_037949.1:n.1925C>A
(BSCL2)
|
|
|
|
NM_001122955.4:c.1317C>A
(BSCL2)
MANE Select
|
NP_001116427.1:p.Val439=
|
|
|
NM_001386027.1:c.1323C>A
(BSCL2)
|
NP_001372956.1:p.Val441=
|
|
|
NM_001386028.1:c.1317C>A
(BSCL2)
|
NP_001372957.1:p.Val439=
|
|
