|
ENST00000486121.7:c.*512C>T
(GLA)
|
ENSP00000501124.2:n.*512C>T
|
|
|
ENST00000674127.2:c.*569C>T
(GLA)
|
ENSP00000501044.2:n.*569C>T
|
|
|
ENST00000710365.1:c.1141C>T
(GLA)
|
ENSP00000518234.1:p.Arg381Trp
|
|
|
ENST00000218516.4:c.1066C>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Arg356Trp
|
|
|
ENST00000466414.2:n.1202C>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2488C>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1680C>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*374C>T
(GLA)
|
ENSP00000497055.1:n.*374C>T
|
|
|
ENST00000486121.6:c.1111C>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1189C>T
(GLA)
|
ENSP00000498186.1:p.Arg397Trp
|
|
|
ENST00000674127.1:c.1166C>T
(GLA)
|
ENSP00000501044.1:n.1166C>T
|
|
|
ENST00000674142.1:n.1370C>T
(GLA)
|
|
|
|
ENST00000675592.1:c.868C>T
(GLA)
|
ENSP00000502239.1:p.Arg290Trp
|
|
|
ENST00000675799.1:c.*591C>T
(GLA)
|
ENSP00000502661.1:n.*591C>T
|
|
|
ENST00000675968.1:n.3937C>T
(GLA)
|
|
|
|
ENST00000676156.1:c.1030C>T
(GLA)
|
ENSP00000501730.1:p.Arg344Trp
|
|
|
ENST00000676372.1:c.1132C>T
(GLA)
|
ENSP00000502805.1:n.1132C>T
|
|
|
ENST00000218516.3:c.1066C>T
(GLA)
|
ENSP00000218516.3:p.Arg356Trp
|
|
|
ENST00000409170.3:c.300+2576G>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2576G>A
|
|
|
ENST00000409338.5:c.177+6211G>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6211G>A
|
|
|
ENST00000466414.1:n.392C>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*454C>T
(GLA)
|
ENSP00000476935.1:n.*454C>T
|
|
|
NM_000169.2:c.1066C>T , LRG_672t1:c.1066C>T
(GLA)
|
NP_000160.1:p.Arg356Trp
|
|
|
NM_001199973.1:c.408+2576G>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2576G>A
|
|
|
NM_001199974.1:c.285+6211G>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6211G>A
|
|
|
XR_938397.1:n.1151C>T
(GLA)
|
|
|
|
XR_938397.2:n.1172C>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2576G>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2576G>A
|
|
|
NM_001199974.2:c.177+6211G>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6211G>A
|
|
|
NM_000169.3:c.1066C>T
(GLA)
MANE Select
|
NP_000160.1:p.Arg356Trp
|
|
|
NR_164783.1:n.1145C>T
(GLA)
|
|
|
