|
ENST00000486121.7:c.*574G>T
(GLA)
|
ENSP00000501124.2:n.*574G>T
|
|
|
ENST00000674127.2:c.*631G>T
(GLA)
|
ENSP00000501044.2:n.*631G>T
|
|
|
ENST00000710365.1:c.1203G>T
(GLA)
|
ENSP00000518234.1:p.Val401=
|
|
|
ENST00000218516.4:c.1128G>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Val376=
|
|
|
ENST00000466414.2:n.1264G>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2550G>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1742G>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*436G>T
(GLA)
|
ENSP00000497055.1:n.*436G>T
|
|
|
ENST00000486121.6:c.1173G>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1251G>T
(GLA)
|
ENSP00000498186.1:p.Val417=
|
|
|
ENST00000674127.1:c.1228G>T
(GLA)
|
ENSP00000501044.1:n.1228G>T
|
|
|
ENST00000674142.1:n.1421+11G>T
(GLA)
|
|
|
|
ENST00000675592.1:c.930G>T
(GLA)
|
ENSP00000502239.1:p.Val310=
|
|
|
ENST00000675799.1:c.*653G>T
(GLA)
|
ENSP00000502661.1:n.*653G>T
|
|
|
ENST00000675968.1:n.3999G>T
(GLA)
|
|
|
|
ENST00000676156.1:c.1092G>T
(GLA)
|
ENSP00000501730.1:p.Val364=
|
|
|
ENST00000676372.1:c.1194G>T
(GLA)
|
ENSP00000502805.1:n.1194G>T
|
|
|
ENST00000218516.3:c.1128G>T
(GLA)
|
ENSP00000218516.3:p.Val376=
|
|
|
ENST00000409170.3:c.300+2514C>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2514C>A
|
|
|
ENST00000409338.5:c.177+6149C>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6149C>A
|
|
|
ENST00000466414.1:n.454G>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*516G>T
(GLA)
|
ENSP00000476935.1:n.*516G>T
|
|
|
NM_000169.2:c.1128G>T , LRG_672t1:c.1128G>T
(GLA)
|
NP_000160.1:p.Val376=
|
|
|
NM_001199973.1:c.408+2514C>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2514C>A
|
|
|
NM_001199974.1:c.285+6149C>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6149C>A
|
|
|
XR_938397.1:n.1213G>T
(GLA)
|
|
|
|
XR_938397.2:n.1234G>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2514C>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2514C>A
|
|
|
NM_001199974.2:c.177+6149C>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6149C>A
|
|
|
NM_000169.3:c.1128G>T
(GLA)
MANE Select
|
NP_000160.1:p.Val376=
|
|
|
NR_164783.1:n.1207G>T
(GLA)
|
|
|
