|
ENST00000465218.3:n.952G>T
|
|
|
|
ENST00000468748.7:n.1172G>T
|
|
|
|
ENST00000484154.2:n.1387-1422G>T
|
|
|
|
ENST00000491008.6:n.1677G>T
|
|
|
|
ENST00000492226.2:n.1186G>T
|
|
|
|
ENST00000492773.6:c.683G>T
|
|
|
|
ENST00000647636.1:c.929G>T
|
ENSP00000497505.1:p.Cys310Phe
|
|
|
ENST00000647909.1:c.953G>T
|
ENSP00000498164.1:p.Cys318Phe
|
|
|
ENST00000648145.1:c.697G>T
|
|
|
|
ENST00000648189.1:c.743G>T
|
|
|
|
ENST00000648256.1:c.901G>T
|
ENSP00000497356.1:n.901G>T
|
|
|
ENST00000648314.1:c.*48G>T
|
ENSP00000496920.1:n.*48G>T
|
|
|
ENST00000648599.1:c.*212G>T
|
ENSP00000497159.1:n.*212G>T
|
|
|
ENST00000648630.1:c.923G>T
|
ENSP00000497887.1:p.Cys308Phe
|
|
|
ENST00000648682.1:c.929G>T
|
ENSP00000498185.1:p.Cys310Phe
|
|
|
ENST00000648882.1:c.*755G>T
|
ENSP00000497603.1:n.*755G>T
|
|
|
ENST00000648890.1:c.929G>T
|
ENSP00000497503.1:p.Cys310Phe
|
|
|
ENST00000648915.2:c.929G>T
MANE Select
|
ENSP00000497160.1:p.Cys310Phe
|
|
|
ENST00000649545.1:c.577+346G>T
|
|
|
|
ENST00000649688.1:c.*212G>T
|
ENSP00000497097.1:n.*212G>T
|
|
|
ENST00000649814.1:n.978G>T
|
|
|
|
ENST00000650270.1:c.796G>T
|
|
|
|
ENST00000273783.7:c.929G>T
|
ENSP00000273783.3:p.Cys310Phe
|
|
|
ENST00000432982.5:c.246-1734G>T
|
|
|
|
ENST00000444495.1:c.929G>T
|
ENSP00000409142.1:p.Cys310Phe
|
|
|
ENST00000468748.5:n.642G>T
|
|
|
|
ENST00000479833.1:n.245G>T
|
|
|
|
ENST00000481054.5:n.1023G>T
|
|
|
|
ENST00000491144.5:n.1433G>T
|
|
|
|
ENST00000493740.1:n.159G>T
|
|
|
|
NM_003907.2:c.929G>T
|
NP_003898.2:p.Cys310Phe
|
|
|
XM_011513265.1:c.179G>T
|
XP_011511567.1:p.Cys60Phe
|
|
|
XM_011513266.1:c.92G>T
|
XP_011511568.1:p.Cys31Phe
|
|
|
XR_924208.1:n.1880G>T
|
|
|
|
NM_003907.3:c.929G>T
MANE Select
|
NP_003898.2:p.Cys310Phe
|
|
|
XM_011513266.3:c.92G>T
|
XP_011511568.1:p.Cys31Phe
|
|
|
XR_001740352.2:n.1292G>T
|
|
|
|
XR_001740353.2:n.1292G>T
|
|
|
|
XR_924208.2:n.1292G>T
|
|
|
