|
ENST00000486121.7:c.*471G>T
(GLA)
|
ENSP00000501124.2:n.*471G>T
|
|
|
ENST00000674127.2:c.*528G>T
(GLA)
|
ENSP00000501044.2:n.*528G>T
|
|
|
ENST00000710365.1:c.1100G>T
(GLA)
|
ENSP00000518234.1:p.Arg367Leu
|
|
|
ENST00000218516.4:c.1025G>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Arg342Leu
|
|
|
ENST00000466414.2:n.1161G>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2447G>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1639G>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*333G>T
(GLA)
|
ENSP00000497055.1:n.*333G>T
|
|
|
ENST00000486121.6:c.1070G>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1148G>T
(GLA)
|
ENSP00000498186.1:p.Arg383Leu
|
|
|
ENST00000674127.1:c.1125G>T
(GLA)
|
ENSP00000501044.1:n.1125G>T
|
|
|
ENST00000674142.1:n.1329G>T
(GLA)
|
|
|
|
ENST00000675592.1:c.827G>T
(GLA)
|
ENSP00000502239.1:p.Arg276Leu
|
|
|
ENST00000675799.1:c.*550G>T
(GLA)
|
ENSP00000502661.1:n.*550G>T
|
|
|
ENST00000675968.1:n.3896G>T
(GLA)
|
|
|
|
ENST00000676156.1:c.989G>T
(GLA)
|
ENSP00000501730.1:p.Arg330Leu
|
|
|
ENST00000676372.1:c.1091G>T
(GLA)
|
ENSP00000502805.1:n.1091G>T
|
|
|
ENST00000218516.3:c.1025G>T
(GLA)
|
ENSP00000218516.3:p.Arg342Leu
|
|
|
ENST00000409170.3:c.300+2617C>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2617C>A
|
|
|
ENST00000409338.5:c.177+6252C>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6252C>A
|
|
|
ENST00000466414.1:n.351G>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*413G>T
(GLA)
|
ENSP00000476935.1:n.*413G>T
|
|
|
NM_000169.2:c.1025G>T , LRG_672t1:c.1025G>T
(GLA)
|
NP_000160.1:p.Arg342Leu
|
|
|
NM_001199973.1:c.408+2617C>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2617C>A
|
|
|
NM_001199974.1:c.285+6252C>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6252C>A
|
|
|
XR_938397.1:n.1110G>T
(GLA)
|
|
|
|
XR_938397.2:n.1131G>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2617C>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2617C>A
|
|
|
NM_001199974.2:c.177+6252C>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6252C>A
|
|
|
NM_000169.3:c.1025G>T
(GLA)
MANE Select
|
NP_000160.1:p.Arg342Leu
|
|
|
NR_164783.1:n.1104G>T
(GLA)
|
|
|
