ENST00000423275.6:c.*916G>T
|
ENSP00000401088.1:n.*916G>T
|
|
ENST00000432427.3:c.568G>T
|
|
|
ENST00000460610.2:n.45G>T
|
|
|
ENST00000465826.6:n.842G>T
|
|
|
ENST00000475353.2:n.1173G>T
|
|
|
ENST00000494557.2:n.1062G>T
|
|
|
ENST00000684903.1:c.*928G>T
|
ENSP00000508612.1:n.*928G>T
|
|
ENST00000685348.1:c.*928G>T
|
ENSP00000510285.1:n.*928G>T
|
|
ENST00000685437.1:c.1152G>T
|
ENSP00000508794.1:p.Leu384=
|
|
ENST00000685653.1:c.1251G>T
|
ENSP00000509968.1:p.Leu417=
|
|
ENST00000685738.1:c.*215G>T
|
ENSP00000510156.1:n.*215G>T
|
|
ENST00000686409.1:n.2302G>T
|
|
|
ENST00000686455.1:n.1614G>T
|
|
|
ENST00000686762.1:c.1251G>T
|
ENSP00000509767.1:p.Leu417=
|
|
ENST00000687257.1:n.1487G>T
|
|
|
ENST00000687326.1:c.*185G>T
|
ENSP00000509665.1:n.*185G>T
|
|
ENST00000687505.1:n.1369G>T
|
|
|
ENST00000687923.1:c.1140G>T
|
ENSP00000510255.1:p.Leu380=
|
|
ENST00000687940.1:n.1628G>T
|
|
|
ENST00000688269.1:n.1847G>T
|
|
|
ENST00000688326.1:c.684G>T
|
|
|
ENST00000688444.1:n.1577G>T
|
|
|
ENST00000688543.1:c.1152G>T
|
ENSP00000509612.1:p.Leu384=
|
|
ENST00000688625.1:c.*829G>T
|
ENSP00000509522.1:n.*829G>T
|
|
ENST00000688803.1:n.1482G>T
|
|
|
ENST00000688914.1:n.237G>T
|
|
|
ENST00000689097.1:c.*928G>T
|
ENSP00000509756.1:n.*928G>T
|
|
ENST00000689389.1:c.1193+791G>T
|
ENSP00000510213.1:n.1193+791G>T
|
|
ENST00000689418.1:c.*928G>T
|
ENSP00000509467.1:n.*928G>T
|
|
ENST00000689481.1:c.*928G>T
|
ENSP00000510248.1:n.*928G>T
|
|
ENST00000689540.1:n.1401G>T
|
|
|
ENST00000689876.1:c.1251G>T
|
ENSP00000508535.1:p.Leu417=
|
|
ENST00000689914.1:c.*185G>T
|
ENSP00000509847.1:n.*185G>T
|
|
ENST00000690397.1:c.1140G>T
|
ENSP00000508730.1:p.Leu380=
|
|
ENST00000690460.1:c.1239G>T
|
ENSP00000509106.1:p.Leu413=
|
|
ENST00000690585.1:c.143G>T
|
|
|
ENST00000690625.1:n.2287G>T
|
|
|
ENST00000691396.1:c.*1103G>T
|
ENSP00000510712.1:n.*1103G>T
|
|
ENST00000691724.1:c.*208G>T
|
ENSP00000509255.1:n.*208G>T
|
|
ENST00000691779.1:c.*829G>T
|
ENSP00000508592.1:n.*829G>T
|
|
ENST00000691888.1:c.143G>T
|
|
|
ENST00000691899.1:c.1251G>T
|
ENSP00000508763.1:p.Leu417=
|
|
ENST00000692069.1:n.1817G>T
|
|
|
ENST00000692093.1:c.1152G>T
|
ENSP00000509669.1:p.Leu384=
|
|
ENST00000692311.1:n.2075G>T
|
|
|
ENST00000692558.1:n.1616G>T
|
|
|
ENST00000692773.1:c.*988G>T
|
ENSP00000509055.1:n.*988G>T
|
|
ENST00000692830.1:c.*996G>T
|
ENSP00000509461.1:n.*996G>T
|
|
ENST00000693069.1:c.*185G>T
|
ENSP00000510072.1:n.*185G>T
|
|
ENST00000693312.1:c.1026G>T
|
ENSP00000508686.1:p.Leu342=
|
|
ENST00000693664.1:c.1251G>T
|
ENSP00000509614.1:p.Leu417=
|
|
ENST00000693705.1:c.*928G>T
|
ENSP00000510697.1:n.*928G>T
|
|
ENST00000251849.9:c.1251G>T
MANE Select
|
ENSP00000251849.4:p.Leu417=
|
|
ENST00000442415.7:c.1311G>T
|
ENSP00000401888.2:p.Leu437=
|
|
ENST00000251849.8:c.1251G>T
|
ENSP00000251849.4:p.Leu417=
|
|
ENST00000423275.5:c.*928G>T
|
ENSP00000401088.1:n.*928G>T
|
|
ENST00000432427.2:c.888G>T
|
ENSP00000398591.2:p.Leu296=
|
|
ENST00000442415.6:c.1311G>T
|
ENSP00000401888.2:p.Leu437=
|
|
ENST00000460610.1:n.208G>T
|
|
|
ENST00000465826.5:n.608G>T
|
|
|
ENST00000475353.1:n.419G>T
|
|
|
ENST00000494557.1:n.267G>T
|
|
|
NM_002880.3:c.1251G>T , LRG_413t1:c.1251G>T
|
NP_002871.1:p.Leu417=
|
|
XM_005265355.1:c.1251G>T
|
XP_005265412.1:p.Leu417=
|
|
XM_005265357.1:c.1152G>T
|
XP_005265414.1:p.Leu384=
|
|
XM_005265358.3:c.1008G>T
|
XP_005265415.1:p.Leu336=
|
|
XM_005265359.3:c.909G>T
|
XP_005265416.1:p.Leu303=
|
|
XM_005265360.1:c.1251G>T
|
XP_005265417.1:p.Leu417=
|
|
XM_011533974.1:c.1251G>T
|
XP_011532276.1:p.Leu417=
|
|
XM_011533975.1:c.1008G>T
|
XP_011532277.1:p.Leu336=
|
|
NM_001354689.1:c.1311G>T
|
NP_001341618.1:p.Leu437=
|
|
NM_001354690.1:c.1251G>T
|
NP_001341619.1:p.Leu417=
|
|
NM_001354691.1:c.1008G>T
|
NP_001341620.1:p.Leu336=
|
|
NM_001354692.1:c.1008G>T
|
NP_001341621.1:p.Leu336=
|
|
NM_001354693.1:c.1152G>T
|
NP_001341622.1:p.Leu384=
|
|
NM_001354694.1:c.1068G>T
|
NP_001341623.1:p.Leu356=
|
|
NM_001354695.1:c.909G>T
|
NP_001341624.1:p.Leu303=
|
|
NR_148940.1:n.1779G>T
|
|
|
NR_148941.1:n.1725G>T
|
|
|
NR_148942.1:n.1664G>T
|
|
|
XM_011533974.3:c.1251G>T
|
XP_011532276.1:p.Leu417=
|
|
XM_017006966.1:c.1152G>T
|
XP_016862455.1:p.Leu384=
|
|
NM_001354689.3:c.1311G>T
|
NP_001341618.1:p.Leu437=
|
|
NM_001354690.2:c.1251G>T
|
NP_001341619.1:p.Leu417=
|
|
NM_001354691.2:c.1008G>T
|
NP_001341620.1:p.Leu336=
|
|
NM_001354692.2:c.1008G>T
|
NP_001341621.1:p.Leu336=
|
|
NM_001354693.2:c.1152G>T
|
NP_001341622.1:p.Leu384=
|
|
NM_001354694.2:c.1068G>T
|
NP_001341623.1:p.Leu356=
|
|
NM_001354695.2:c.909G>T
|
NP_001341624.1:p.Leu303=
|
|
NR_148940.2:n.1695G>T
|
|
|
NR_148941.2:n.1641G>T
|
|
|
NR_148942.2:n.1580G>T
|
|
|
NM_001354690.3:c.1251G>T
|
NP_001341619.1:p.Leu417=
|
|
NM_001354691.3:c.1008G>T
|
NP_001341620.1:p.Leu336=
|
|
NM_001354692.3:c.1008G>T
|
NP_001341621.1:p.Leu336=
|
|
NM_001354693.3:c.1152G>T
|
NP_001341622.1:p.Leu384=
|
|
NM_001354694.3:c.1068G>T
|
NP_001341623.1:p.Leu356=
|
|
NM_001354695.3:c.909G>T
|
NP_001341624.1:p.Leu303=
|
|
NM_002880.4:c.1251G>T
MANE Select
|
NP_002871.1:p.Leu417=
|
|
NR_148940.3:n.1695G>T
|
|
|
NR_148941.3:n.1641G>T
|
|
|
NR_148942.3:n.1580G>T
|
|
|