|
ENST00000486121.7:c.*568A>C
(GLA)
|
ENSP00000501124.2:n.*568A>C
|
|
|
ENST00000674127.2:c.*625A>C
(GLA)
|
ENSP00000501044.2:n.*625A>C
|
|
|
ENST00000710365.1:c.1197A>C
(GLA)
|
ENSP00000518234.1:p.Lys399Asn
|
|
|
ENST00000218516.4:c.1122A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Lys374Asn
|
|
|
ENST00000466414.2:n.1258A>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2544A>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1736A>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*430A>C
(GLA)
|
ENSP00000497055.1:n.*430A>C
|
|
|
ENST00000486121.6:c.1167A>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1245A>C
(GLA)
|
ENSP00000498186.1:p.Lys415Asn
|
|
|
ENST00000674127.1:c.1222A>C
(GLA)
|
ENSP00000501044.1:n.1222A>C
|
|
|
ENST00000674142.1:n.1421+5A>C
(GLA)
|
|
|
|
ENST00000675592.1:c.924A>C
(GLA)
|
ENSP00000502239.1:p.Lys308Asn
|
|
|
ENST00000675799.1:c.*647A>C
(GLA)
|
ENSP00000502661.1:n.*647A>C
|
|
|
ENST00000675968.1:n.3993A>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1086A>C
(GLA)
|
ENSP00000501730.1:p.Lys362Asn
|
|
|
ENST00000676372.1:c.1188A>C
(GLA)
|
ENSP00000502805.1:n.1188A>C
|
|
|
ENST00000218516.3:c.1122A>C
(GLA)
|
ENSP00000218516.3:p.Lys374Asn
|
|
|
ENST00000409170.3:c.300+2520T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2520T>G
|
|
|
ENST00000409338.5:c.177+6155T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6155T>G
|
|
|
ENST00000466414.1:n.448A>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*510A>C
(GLA)
|
ENSP00000476935.1:n.*510A>C
|
|
|
NM_000169.2:c.1122A>C , LRG_672t1:c.1122A>C
(GLA)
|
NP_000160.1:p.Lys374Asn
|
|
|
NM_001199973.1:c.408+2520T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2520T>G
|
|
|
NM_001199974.1:c.285+6155T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6155T>G
|
|
|
XR_938397.1:n.1207A>C
(GLA)
|
|
|
|
XR_938397.2:n.1228A>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2520T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2520T>G
|
|
|
NM_001199974.2:c.177+6155T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6155T>G
|
|
|
NM_000169.3:c.1122A>C
(GLA)
MANE Select
|
NP_000160.1:p.Lys374Asn
|
|
|
NR_164783.1:n.1201A>C
(GLA)
|
|
|
