|
ENST00000423275.6:c.*618G>T
|
ENSP00000401088.1:n.*618G>T
|
|
|
ENST00000432427.3:c.273G>T
|
|
|
|
ENST00000465826.6:n.544G>T
|
|
|
|
ENST00000491290.2:n.1330G>T
|
|
|
|
ENST00000684903.1:c.*630G>T
|
ENSP00000508612.1:n.*630G>T
|
|
|
ENST00000685348.1:c.*630G>T
|
ENSP00000510285.1:n.*630G>T
|
|
|
ENST00000685437.1:c.854G>T
|
ENSP00000508794.1:p.Arg285Leu
|
|
|
ENST00000685653.1:c.953G>T
|
ENSP00000509968.1:p.Arg318Leu
|
|
|
ENST00000685738.1:c.953G>T
|
ENSP00000510156.1:p.Arg318Leu
|
|
|
ENST00000686409.1:n.1661G>T
|
|
|
|
ENST00000686455.1:n.1316G>T
|
|
|
|
ENST00000686479.1:n.1324G>T
|
|
|
|
ENST00000686762.1:c.953G>T
|
ENSP00000509767.1:p.Arg318Leu
|
|
|
ENST00000687257.1:n.1189G>T
|
|
|
|
ENST00000687326.1:c.953G>T
|
ENSP00000509665.1:p.Arg318Leu
|
|
|
ENST00000687486.1:c.182+199G>T
|
|
|
|
ENST00000687505.1:n.1071G>T
|
|
|
|
ENST00000687923.1:c.854G>T
|
ENSP00000510255.1:p.Arg285Leu
|
|
|
ENST00000687940.1:n.1330G>T
|
|
|
|
ENST00000688269.1:n.1549G>T
|
|
|
|
ENST00000688326.1:c.273G>T
|
|
|
|
ENST00000688444.1:n.1279G>T
|
|
|
|
ENST00000688543.1:c.854G>T
|
ENSP00000509612.1:p.Arg285Leu
|
|
|
ENST00000688625.1:c.*531G>T
|
ENSP00000509522.1:n.*531G>T
|
|
|
ENST00000688803.1:n.1184G>T
|
|
|
|
ENST00000689097.1:c.*630G>T
|
ENSP00000509756.1:n.*630G>T
|
|
|
ENST00000689389.1:c.953G>T
|
ENSP00000510213.1:p.Arg318Leu
|
|
|
ENST00000689418.1:c.*630G>T
|
ENSP00000509467.1:n.*630G>T
|
|
|
ENST00000689481.1:c.*630G>T
|
ENSP00000510248.1:n.*630G>T
|
|
|
ENST00000689540.1:n.1103G>T
|
|
|
|
ENST00000689876.1:c.953G>T
|
ENSP00000508535.1:p.Arg318Leu
|
|
|
ENST00000689914.1:c.953G>T
|
ENSP00000509847.1:p.Arg318Leu
|
|
|
ENST00000690397.1:c.842G>T
|
ENSP00000508730.1:p.Arg281Leu
|
|
|
ENST00000690460.1:c.941G>T
|
ENSP00000509106.1:p.Arg314Leu
|
|
|
ENST00000690625.1:n.1256G>T
|
|
|
|
ENST00000691268.1:c.380G>T
|
|
|
|
ENST00000691396.1:c.*746G>T
|
ENSP00000510712.1:n.*746G>T
|
|
|
ENST00000691724.1:c.953G>T
|
ENSP00000509255.1:p.Arg318Leu
|
|
|
ENST00000691779.1:c.*531G>T
|
ENSP00000508592.1:n.*531G>T
|
|
|
ENST00000691899.1:c.953G>T
|
ENSP00000508763.1:p.Arg318Leu
|
|
|
ENST00000692069.1:n.1176G>T
|
|
|
|
ENST00000692093.1:c.854G>T
|
ENSP00000509669.1:p.Arg285Leu
|
|
|
ENST00000692311.1:n.1434G>T
|
|
|
|
ENST00000692558.1:n.1318G>T
|
|
|
|
ENST00000692773.1:c.*690G>T
|
ENSP00000509055.1:n.*690G>T
|
|
|
ENST00000692830.1:c.*698G>T
|
ENSP00000509461.1:n.*698G>T
|
|
|
ENST00000693069.1:c.854G>T
|
ENSP00000510072.1:p.Arg285Leu
|
|
|
ENST00000693312.1:c.728G>T
|
ENSP00000508686.1:p.Arg243Leu
|
|
|
ENST00000693664.1:c.953G>T
|
ENSP00000509614.1:p.Arg318Leu
|
|
|
ENST00000693705.1:c.*630G>T
|
ENSP00000510697.1:n.*630G>T
|
|
|
ENST00000251849.9:c.953G>T
MANE Select
|
ENSP00000251849.4:p.Arg318Leu
|
|
|
ENST00000442415.7:c.1013G>T
|
ENSP00000401888.2:p.Arg338Leu
|
|
|
ENST00000251849.8:c.953G>T
|
ENSP00000251849.4:p.Arg318Leu
|
|
|
ENST00000423275.5:c.*630G>T
|
ENSP00000401088.1:n.*630G>T
|
|
|
ENST00000432427.2:c.590G>T
|
ENSP00000398591.2:p.Arg197Leu
|
|
|
ENST00000442415.6:c.1013G>T
|
ENSP00000401888.2:p.Arg338Leu
|
|
|
ENST00000465826.5:n.197G>T
|
|
|
|
NM_002880.3:c.953G>T , LRG_413t1:c.953G>T
|
NP_002871.1:p.Arg318Leu
|
|
|
XM_005265355.1:c.953G>T
|
XP_005265412.1:p.Arg318Leu
|
|
|
XM_005265357.1:c.854G>T
|
XP_005265414.1:p.Arg285Leu
|
|
|
XM_005265358.3:c.710G>T
|
XP_005265415.1:p.Arg237Leu
|
|
|
XM_005265359.3:c.611G>T
|
XP_005265416.1:p.Arg204Leu
|
|
|
XM_005265360.1:c.953G>T
|
XP_005265417.1:p.Arg318Leu
|
|
|
XM_011533974.1:c.953G>T
|
XP_011532276.1:p.Arg318Leu
|
|
|
XM_011533975.1:c.710G>T
|
XP_011532277.1:p.Arg237Leu
|
|
|
NM_001354689.1:c.1013G>T
|
NP_001341618.1:p.Arg338Leu
|
|
|
NM_001354690.1:c.953G>T
|
NP_001341619.1:p.Arg318Leu
|
|
|
NM_001354691.1:c.710G>T
|
NP_001341620.1:p.Arg237Leu
|
|
|
NM_001354692.1:c.710G>T
|
NP_001341621.1:p.Arg237Leu
|
|
|
NM_001354693.1:c.854G>T
|
NP_001341622.1:p.Arg285Leu
|
|
|
NM_001354694.1:c.770G>T
|
NP_001341623.1:p.Arg257Leu
|
|
|
NM_001354695.1:c.611G>T
|
NP_001341624.1:p.Arg204Leu
|
|
|
NR_148940.1:n.1368G>T
|
|
|
|
NR_148941.1:n.1368G>T
|
|
|
|
NR_148942.1:n.1368G>T
|
|
|
|
XM_011533974.3:c.953G>T
|
XP_011532276.1:p.Arg318Leu
|
|
|
XM_017006966.1:c.854G>T
|
XP_016862455.1:p.Arg285Leu
|
|
|
XR_001740227.1:n.1185G>T
|
|
|
|
NM_001354689.3:c.1013G>T
|
NP_001341618.1:p.Arg338Leu
|
|
|
NM_001354690.2:c.953G>T
|
NP_001341619.1:p.Arg318Leu
|
|
|
NM_001354691.2:c.710G>T
|
NP_001341620.1:p.Arg237Leu
|
|
|
NM_001354692.2:c.710G>T
|
NP_001341621.1:p.Arg237Leu
|
|
|
NM_001354693.2:c.854G>T
|
NP_001341622.1:p.Arg285Leu
|
|
|
NM_001354694.2:c.770G>T
|
NP_001341623.1:p.Arg257Leu
|
|
|
NM_001354695.2:c.611G>T
|
NP_001341624.1:p.Arg204Leu
|
|
|
NR_148940.2:n.1284G>T
|
|
|
|
NR_148941.2:n.1284G>T
|
|
|
|
NR_148942.2:n.1284G>T
|
|
|
|
NM_001354690.3:c.953G>T
|
NP_001341619.1:p.Arg318Leu
|
|
|
NM_001354691.3:c.710G>T
|
NP_001341620.1:p.Arg237Leu
|
|
|
NM_001354692.3:c.710G>T
|
NP_001341621.1:p.Arg237Leu
|
|
|
NM_001354693.3:c.854G>T
|
NP_001341622.1:p.Arg285Leu
|
|
|
NM_001354694.3:c.770G>T
|
NP_001341623.1:p.Arg257Leu
|
|
|
NM_001354695.3:c.611G>T
|
NP_001341624.1:p.Arg204Leu
|
|
|
NM_002880.4:c.953G>T
MANE Select
|
NP_002871.1:p.Arg318Leu
|
|
|
NR_148940.3:n.1284G>T
|
|
|
|
NR_148941.3:n.1284G>T
|
|
|
|
NR_148942.3:n.1284G>T
|
|
|
