|
ENST00000486121.7:c.*466G>A
(GLA)
|
ENSP00000501124.2:n.*466G>A
|
|
|
ENST00000674127.2:c.*523G>A
(GLA)
|
ENSP00000501044.2:n.*523G>A
|
|
|
ENST00000710365.1:c.1095G>A
(GLA)
|
ENSP00000518234.1:p.Trp365Ter
|
|
|
ENST00000218516.4:c.1020G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Trp340Ter
|
|
|
ENST00000466414.2:n.1156G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2442G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1634G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*328G>A
(GLA)
|
ENSP00000497055.1:n.*328G>A
|
|
|
ENST00000486121.6:c.1065G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1143G>A
(GLA)
|
ENSP00000498186.1:p.Trp381Ter
|
|
|
ENST00000674127.1:c.1120G>A
(GLA)
|
ENSP00000501044.1:n.1120G>A
|
|
|
ENST00000674142.1:n.1324G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.822G>A
(GLA)
|
ENSP00000502239.1:p.Trp274Ter
|
|
|
ENST00000675799.1:c.*545G>A
(GLA)
|
ENSP00000502661.1:n.*545G>A
|
|
|
ENST00000675968.1:n.3891G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.984G>A
(GLA)
|
ENSP00000501730.1:p.Trp328Ter
|
|
|
ENST00000676372.1:c.1086G>A
(GLA)
|
ENSP00000502805.1:n.1086G>A
|
|
|
ENST00000218516.3:c.1020G>A
(GLA)
|
ENSP00000218516.3:p.Trp340Ter
|
|
|
ENST00000409170.3:c.300+2622C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2622C>T
|
|
|
ENST00000409338.5:c.177+6257C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6257C>T
|
|
|
ENST00000466414.1:n.346G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*408G>A
(GLA)
|
ENSP00000476935.1:n.*408G>A
|
|
|
NM_000169.2:c.1020G>A , LRG_672t1:c.1020G>A
(GLA)
|
NP_000160.1:p.Trp340Ter
|
|
|
NM_001199973.1:c.408+2622C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2622C>T
|
|
|
NM_001199974.1:c.285+6257C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6257C>T
|
|
|
XR_938397.1:n.1105G>A
(GLA)
|
|
|
|
XR_938397.2:n.1126G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2622C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2622C>T
|
|
|
NM_001199974.2:c.177+6257C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6257C>T
|
|
|
NM_000169.3:c.1020G>A
(GLA)
MANE Select
|
NP_000160.1:p.Trp340Ter
|
|
|
NR_164783.1:n.1099G>A
(GLA)
|
|
|
