|
ENST00000486121.7:c.*569G>C
(GLA)
|
ENSP00000501124.2:n.*569G>C
|
|
|
ENST00000674127.2:c.*626G>C
(GLA)
|
ENSP00000501044.2:n.*626G>C
|
|
|
ENST00000710365.1:c.1198G>C
(GLA)
|
ENSP00000518234.1:p.Gly400Arg
|
|
|
ENST00000218516.4:c.1123G>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly375Arg
|
|
|
ENST00000466414.2:n.1259G>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2545G>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1737G>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*431G>C
(GLA)
|
ENSP00000497055.1:n.*431G>C
|
|
|
ENST00000486121.6:c.1168G>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1246G>C
(GLA)
|
ENSP00000498186.1:p.Gly416Arg
|
|
|
ENST00000674127.1:c.1223G>C
(GLA)
|
ENSP00000501044.1:n.1223G>C
|
|
|
ENST00000674142.1:n.1421+6G>C
(GLA)
|
|
|
|
ENST00000675592.1:c.925G>C
(GLA)
|
ENSP00000502239.1:p.Gly309Arg
|
|
|
ENST00000675799.1:c.*648G>C
(GLA)
|
ENSP00000502661.1:n.*648G>C
|
|
|
ENST00000675968.1:n.3994G>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1087G>C
(GLA)
|
ENSP00000501730.1:p.Gly363Arg
|
|
|
ENST00000676372.1:c.1189G>C
(GLA)
|
ENSP00000502805.1:n.1189G>C
|
|
|
ENST00000218516.3:c.1123G>C
(GLA)
|
ENSP00000218516.3:p.Gly375Arg
|
|
|
ENST00000409170.3:c.300+2519C>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2519C>G
|
|
|
ENST00000409338.5:c.177+6154C>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6154C>G
|
|
|
ENST00000466414.1:n.449G>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*511G>C
(GLA)
|
ENSP00000476935.1:n.*511G>C
|
|
|
NM_000169.2:c.1123G>C , LRG_672t1:c.1123G>C
(GLA)
|
NP_000160.1:p.Gly375Arg
|
|
|
NM_001199973.1:c.408+2519C>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2519C>G
|
|
|
NM_001199974.1:c.285+6154C>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6154C>G
|
|
|
XR_938397.1:n.1208G>C
(GLA)
|
|
|
|
XR_938397.2:n.1229G>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2519C>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2519C>G
|
|
|
NM_001199974.2:c.177+6154C>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6154C>G
|
|
|
NM_000169.3:c.1123G>C
(GLA)
MANE Select
|
NP_000160.1:p.Gly375Arg
|
|
|
NR_164783.1:n.1202G>C
(GLA)
|
|
|
