|
ENST00000423275.6:c.*614G>T
|
ENSP00000401088.1:n.*614G>T
|
|
|
ENST00000432427.3:c.269G>T
|
|
|
|
ENST00000465826.6:n.540G>T
|
|
|
|
ENST00000491290.2:n.1326G>T
|
|
|
|
ENST00000684903.1:c.*626G>T
|
ENSP00000508612.1:n.*626G>T
|
|
|
ENST00000685348.1:c.*626G>T
|
ENSP00000510285.1:n.*626G>T
|
|
|
ENST00000685437.1:c.850G>T
|
ENSP00000508794.1:p.Glu284Ter
|
|
|
ENST00000685653.1:c.949G>T
|
ENSP00000509968.1:p.Glu317Ter
|
|
|
ENST00000685738.1:c.949G>T
|
ENSP00000510156.1:p.Glu317Ter
|
|
|
ENST00000686409.1:n.1657G>T
|
|
|
|
ENST00000686455.1:n.1312G>T
|
|
|
|
ENST00000686479.1:n.1320G>T
|
|
|
|
ENST00000686762.1:c.949G>T
|
ENSP00000509767.1:p.Glu317Ter
|
|
|
ENST00000687257.1:n.1185G>T
|
|
|
|
ENST00000687326.1:c.949G>T
|
ENSP00000509665.1:p.Glu317Ter
|
|
|
ENST00000687486.1:c.182+195G>T
|
|
|
|
ENST00000687505.1:n.1067G>T
|
|
|
|
ENST00000687923.1:c.850G>T
|
ENSP00000510255.1:p.Glu284Ter
|
|
|
ENST00000687940.1:n.1326G>T
|
|
|
|
ENST00000688269.1:n.1545G>T
|
|
|
|
ENST00000688326.1:c.269G>T
|
|
|
|
ENST00000688444.1:n.1275G>T
|
|
|
|
ENST00000688543.1:c.850G>T
|
ENSP00000509612.1:p.Glu284Ter
|
|
|
ENST00000688625.1:c.*527G>T
|
ENSP00000509522.1:n.*527G>T
|
|
|
ENST00000688803.1:n.1180G>T
|
|
|
|
ENST00000689097.1:c.*626G>T
|
ENSP00000509756.1:n.*626G>T
|
|
|
ENST00000689389.1:c.949G>T
|
ENSP00000510213.1:p.Glu317Ter
|
|
|
ENST00000689418.1:c.*626G>T
|
ENSP00000509467.1:n.*626G>T
|
|
|
ENST00000689481.1:c.*626G>T
|
ENSP00000510248.1:n.*626G>T
|
|
|
ENST00000689540.1:n.1099G>T
|
|
|
|
ENST00000689876.1:c.949G>T
|
ENSP00000508535.1:p.Glu317Ter
|
|
|
ENST00000689914.1:c.949G>T
|
ENSP00000509847.1:p.Glu317Ter
|
|
|
ENST00000690397.1:c.838G>T
|
ENSP00000508730.1:p.Glu280Ter
|
|
|
ENST00000690460.1:c.937G>T
|
ENSP00000509106.1:p.Glu313Ter
|
|
|
ENST00000690625.1:n.1252G>T
|
|
|
|
ENST00000691268.1:c.376G>T
|
|
|
|
ENST00000691396.1:c.*742G>T
|
ENSP00000510712.1:n.*742G>T
|
|
|
ENST00000691724.1:c.949G>T
|
ENSP00000509255.1:p.Glu317Ter
|
|
|
ENST00000691779.1:c.*527G>T
|
ENSP00000508592.1:n.*527G>T
|
|
|
ENST00000691899.1:c.949G>T
|
ENSP00000508763.1:p.Glu317Ter
|
|
|
ENST00000692069.1:n.1172G>T
|
|
|
|
ENST00000692093.1:c.850G>T
|
ENSP00000509669.1:p.Glu284Ter
|
|
|
ENST00000692311.1:n.1430G>T
|
|
|
|
ENST00000692558.1:n.1314G>T
|
|
|
|
ENST00000692773.1:c.*686G>T
|
ENSP00000509055.1:n.*686G>T
|
|
|
ENST00000692830.1:c.*694G>T
|
ENSP00000509461.1:n.*694G>T
|
|
|
ENST00000693069.1:c.850G>T
|
ENSP00000510072.1:p.Glu284Ter
|
|
|
ENST00000693312.1:c.724G>T
|
ENSP00000508686.1:p.Glu242Ter
|
|
|
ENST00000693664.1:c.949G>T
|
ENSP00000509614.1:p.Glu317Ter
|
|
|
ENST00000693705.1:c.*626G>T
|
ENSP00000510697.1:n.*626G>T
|
|
|
ENST00000251849.9:c.949G>T
MANE Select
|
ENSP00000251849.4:p.Glu317Ter
|
|
|
ENST00000442415.7:c.1009G>T
|
ENSP00000401888.2:p.Glu337Ter
|
|
|
ENST00000251849.8:c.949G>T
|
ENSP00000251849.4:p.Glu317Ter
|
|
|
ENST00000423275.5:c.*626G>T
|
ENSP00000401088.1:n.*626G>T
|
|
|
ENST00000432427.2:c.586G>T
|
ENSP00000398591.2:p.Glu196Ter
|
|
|
ENST00000442415.6:c.1009G>T
|
ENSP00000401888.2:p.Glu337Ter
|
|
|
ENST00000465826.5:n.193G>T
|
|
|
|
NM_002880.3:c.949G>T , LRG_413t1:c.949G>T
|
NP_002871.1:p.Glu317Ter
|
|
|
XM_005265355.1:c.949G>T
|
XP_005265412.1:p.Glu317Ter
|
|
|
XM_005265357.1:c.850G>T
|
XP_005265414.1:p.Glu284Ter
|
|
|
XM_005265358.3:c.706G>T
|
XP_005265415.1:p.Glu236Ter
|
|
|
XM_005265359.3:c.607G>T
|
XP_005265416.1:p.Glu203Ter
|
|
|
XM_005265360.1:c.949G>T
|
XP_005265417.1:p.Glu317Ter
|
|
|
XM_011533974.1:c.949G>T
|
XP_011532276.1:p.Glu317Ter
|
|
|
XM_011533975.1:c.706G>T
|
XP_011532277.1:p.Glu236Ter
|
|
|
NM_001354689.1:c.1009G>T
|
NP_001341618.1:p.Glu337Ter
|
|
|
NM_001354690.1:c.949G>T
|
NP_001341619.1:p.Glu317Ter
|
|
|
NM_001354691.1:c.706G>T
|
NP_001341620.1:p.Glu236Ter
|
|
|
NM_001354692.1:c.706G>T
|
NP_001341621.1:p.Glu236Ter
|
|
|
NM_001354693.1:c.850G>T
|
NP_001341622.1:p.Glu284Ter
|
|
|
NM_001354694.1:c.766G>T
|
NP_001341623.1:p.Glu256Ter
|
|
|
NM_001354695.1:c.607G>T
|
NP_001341624.1:p.Glu203Ter
|
|
|
NR_148940.1:n.1364G>T
|
|
|
|
NR_148941.1:n.1364G>T
|
|
|
|
NR_148942.1:n.1364G>T
|
|
|
|
XM_011533974.3:c.949G>T
|
XP_011532276.1:p.Glu317Ter
|
|
|
XM_017006966.1:c.850G>T
|
XP_016862455.1:p.Glu284Ter
|
|
|
XR_001740227.1:n.1181G>T
|
|
|
|
NM_001354689.3:c.1009G>T
|
NP_001341618.1:p.Glu337Ter
|
|
|
NM_001354690.2:c.949G>T
|
NP_001341619.1:p.Glu317Ter
|
|
|
NM_001354691.2:c.706G>T
|
NP_001341620.1:p.Glu236Ter
|
|
|
NM_001354692.2:c.706G>T
|
NP_001341621.1:p.Glu236Ter
|
|
|
NM_001354693.2:c.850G>T
|
NP_001341622.1:p.Glu284Ter
|
|
|
NM_001354694.2:c.766G>T
|
NP_001341623.1:p.Glu256Ter
|
|
|
NM_001354695.2:c.607G>T
|
NP_001341624.1:p.Glu203Ter
|
|
|
NR_148940.2:n.1280G>T
|
|
|
|
NR_148941.2:n.1280G>T
|
|
|
|
NR_148942.2:n.1280G>T
|
|
|
|
NM_001354690.3:c.949G>T
|
NP_001341619.1:p.Glu317Ter
|
|
|
NM_001354691.3:c.706G>T
|
NP_001341620.1:p.Glu236Ter
|
|
|
NM_001354692.3:c.706G>T
|
NP_001341621.1:p.Glu236Ter
|
|
|
NM_001354693.3:c.850G>T
|
NP_001341622.1:p.Glu284Ter
|
|
|
NM_001354694.3:c.766G>T
|
NP_001341623.1:p.Glu256Ter
|
|
|
NM_001354695.3:c.607G>T
|
NP_001341624.1:p.Glu203Ter
|
|
|
NM_002880.4:c.949G>T
MANE Select
|
NP_002871.1:p.Glu317Ter
|
|
|
NR_148940.3:n.1280G>T
|
|
|
|
NR_148941.3:n.1280G>T
|
|
|
|
NR_148942.3:n.1280G>T
|
|
|
