|
ENST00000423275.6:c.*993T>G
|
ENSP00000401088.1:n.*993T>G
|
|
|
ENST00000432427.3:c.645T>G
|
|
|
|
ENST00000460610.2:n.122T>G
|
|
|
|
ENST00000465826.6:n.919T>G
|
|
|
|
ENST00000475353.2:n.1250T>G
|
|
|
|
ENST00000494557.2:n.1139T>G
|
|
|
|
ENST00000684903.1:c.*1005T>G
|
ENSP00000508612.1:n.*1005T>G
|
|
|
ENST00000685348.1:c.*1005T>G
|
ENSP00000510285.1:n.*1005T>G
|
|
|
ENST00000685437.1:c.1229T>G
|
ENSP00000508794.1:p.Phe410Cys
|
|
|
ENST00000685653.1:c.1328T>G
|
ENSP00000509968.1:p.Phe443Cys
|
|
|
ENST00000685738.1:c.*292T>G
|
ENSP00000510156.1:n.*292T>G
|
|
|
ENST00000686409.1:n.2379T>G
|
|
|
|
ENST00000686455.1:n.1691T>G
|
|
|
|
ENST00000686762.1:c.1328T>G
|
ENSP00000509767.1:p.Phe443Cys
|
|
|
ENST00000687257.1:n.1564T>G
|
|
|
|
ENST00000687326.1:c.*262T>G
|
ENSP00000509665.1:n.*262T>G
|
|
|
ENST00000687505.1:n.1446T>G
|
|
|
|
ENST00000687923.1:c.1217T>G
|
ENSP00000510255.1:p.Phe406Cys
|
|
|
ENST00000687940.1:n.1705T>G
|
|
|
|
ENST00000688269.1:n.1924T>G
|
|
|
|
ENST00000688326.1:c.761T>G
|
|
|
|
ENST00000688444.1:n.1654T>G
|
|
|
|
ENST00000688543.1:c.1229T>G
|
ENSP00000509612.1:p.Phe410Cys
|
|
|
ENST00000688625.1:c.*906T>G
|
ENSP00000509522.1:n.*906T>G
|
|
|
ENST00000688803.1:n.1559T>G
|
|
|
|
ENST00000688914.1:n.314T>G
|
|
|
|
ENST00000689097.1:c.*1005T>G
|
ENSP00000509756.1:n.*1005T>G
|
|
|
ENST00000689389.1:c.1193+868T>G
|
ENSP00000510213.1:n.1193+868T>G
|
|
|
ENST00000689418.1:c.*1005T>G
|
ENSP00000509467.1:n.*1005T>G
|
|
|
ENST00000689481.1:c.*1005T>G
|
ENSP00000510248.1:n.*1005T>G
|
|
|
ENST00000689540.1:n.1478T>G
|
|
|
|
ENST00000689876.1:c.1328T>G
|
ENSP00000508535.1:p.Phe443Cys
|
|
|
ENST00000689914.1:c.*262T>G
|
ENSP00000509847.1:n.*262T>G
|
|
|
ENST00000690397.1:c.1217T>G
|
ENSP00000508730.1:p.Phe406Cys
|
|
|
ENST00000690460.1:c.1316T>G
|
ENSP00000509106.1:p.Phe439Cys
|
|
|
ENST00000690585.1:c.220T>G
|
|
|
|
ENST00000690625.1:n.2364T>G
|
|
|
|
ENST00000691396.1:c.*1180T>G
|
ENSP00000510712.1:n.*1180T>G
|
|
|
ENST00000691724.1:c.*285T>G
|
ENSP00000509255.1:n.*285T>G
|
|
|
ENST00000691779.1:c.*906T>G
|
ENSP00000508592.1:n.*906T>G
|
|
|
ENST00000691888.1:c.220T>G
|
|
|
|
ENST00000691899.1:c.1328T>G
|
ENSP00000508763.1:p.Phe443Cys
|
|
|
ENST00000692069.1:n.1894T>G
|
|
|
|
ENST00000692093.1:c.1229T>G
|
ENSP00000509669.1:p.Phe410Cys
|
|
|
ENST00000692311.1:n.2152T>G
|
|
|
|
ENST00000692558.1:n.1693T>G
|
|
|
|
ENST00000692773.1:c.*1065T>G
|
ENSP00000509055.1:n.*1065T>G
|
|
|
ENST00000692830.1:c.*1073T>G
|
ENSP00000509461.1:n.*1073T>G
|
|
|
ENST00000693069.1:c.*262T>G
|
ENSP00000510072.1:n.*262T>G
|
|
|
ENST00000693312.1:c.1103T>G
|
ENSP00000508686.1:p.Phe368Cys
|
|
|
ENST00000693664.1:c.1328T>G
|
ENSP00000509614.1:p.Phe443Cys
|
|
|
ENST00000693705.1:c.*1005T>G
|
ENSP00000510697.1:n.*1005T>G
|
|
|
ENST00000251849.9:c.1328T>G
MANE Select
|
ENSP00000251849.4:p.Phe443Cys
|
|
|
ENST00000442415.7:c.1388T>G
|
ENSP00000401888.2:p.Phe463Cys
|
|
|
ENST00000251849.8:c.1328T>G
|
ENSP00000251849.4:p.Phe443Cys
|
|
|
ENST00000423275.5:c.*1005T>G
|
ENSP00000401088.1:n.*1005T>G
|
|
|
ENST00000432427.2:c.965T>G
|
ENSP00000398591.2:p.Phe322Cys
|
|
|
ENST00000442415.6:c.1388T>G
|
ENSP00000401888.2:p.Phe463Cys
|
|
|
ENST00000460610.1:n.285T>G
|
|
|
|
ENST00000465826.5:n.685T>G
|
|
|
|
ENST00000475353.1:n.496T>G
|
|
|
|
ENST00000494557.1:n.344T>G
|
|
|
|
NM_002880.3:c.1328T>G , LRG_413t1:c.1328T>G
|
NP_002871.1:p.Phe443Cys
|
|
|
XM_005265355.1:c.1328T>G
|
XP_005265412.1:p.Phe443Cys
|
|
|
XM_005265357.1:c.1229T>G
|
XP_005265414.1:p.Phe410Cys
|
|
|
XM_005265358.3:c.1085T>G
|
XP_005265415.1:p.Phe362Cys
|
|
|
XM_005265359.3:c.986T>G
|
XP_005265416.1:p.Phe329Cys
|
|
|
XM_005265360.1:c.1328T>G
|
XP_005265417.1:p.Phe443Cys
|
|
|
XM_011533974.1:c.1328T>G
|
XP_011532276.1:p.Phe443Cys
|
|
|
XM_011533975.1:c.1085T>G
|
XP_011532277.1:p.Phe362Cys
|
|
|
NM_001354689.1:c.1388T>G
|
NP_001341618.1:p.Phe463Cys
|
|
|
NM_001354690.1:c.1328T>G
|
NP_001341619.1:p.Phe443Cys
|
|
|
NM_001354691.1:c.1085T>G
|
NP_001341620.1:p.Phe362Cys
|
|
|
NM_001354692.1:c.1085T>G
|
NP_001341621.1:p.Phe362Cys
|
|
|
NM_001354693.1:c.1229T>G
|
NP_001341622.1:p.Phe410Cys
|
|
|
NM_001354694.1:c.1145T>G
|
NP_001341623.1:p.Phe382Cys
|
|
|
NM_001354695.1:c.986T>G
|
NP_001341624.1:p.Phe329Cys
|
|
|
NR_148940.1:n.1856T>G
|
|
|
|
NR_148941.1:n.1802T>G
|
|
|
|
NR_148942.1:n.1741T>G
|
|
|
|
XM_011533974.3:c.1328T>G
|
XP_011532276.1:p.Phe443Cys
|
|
|
XM_017006966.1:c.1229T>G
|
XP_016862455.1:p.Phe410Cys
|
|
|
NM_001354689.3:c.1388T>G
|
NP_001341618.1:p.Phe463Cys
|
|
|
NM_001354690.2:c.1328T>G
|
NP_001341619.1:p.Phe443Cys
|
|
|
NM_001354691.2:c.1085T>G
|
NP_001341620.1:p.Phe362Cys
|
|
|
NM_001354692.2:c.1085T>G
|
NP_001341621.1:p.Phe362Cys
|
|
|
NM_001354693.2:c.1229T>G
|
NP_001341622.1:p.Phe410Cys
|
|
|
NM_001354694.2:c.1145T>G
|
NP_001341623.1:p.Phe382Cys
|
|
|
NM_001354695.2:c.986T>G
|
NP_001341624.1:p.Phe329Cys
|
|
|
NR_148940.2:n.1772T>G
|
|
|
|
NR_148941.2:n.1718T>G
|
|
|
|
NR_148942.2:n.1657T>G
|
|
|
|
NM_001354690.3:c.1328T>G
|
NP_001341619.1:p.Phe443Cys
|
|
|
NM_001354691.3:c.1085T>G
|
NP_001341620.1:p.Phe362Cys
|
|
|
NM_001354692.3:c.1085T>G
|
NP_001341621.1:p.Phe362Cys
|
|
|
NM_001354693.3:c.1229T>G
|
NP_001341622.1:p.Phe410Cys
|
|
|
NM_001354694.3:c.1145T>G
|
NP_001341623.1:p.Phe382Cys
|
|
|
NM_001354695.3:c.986T>G
|
NP_001341624.1:p.Phe329Cys
|
|
|
NM_002880.4:c.1328T>G
MANE Select
|
NP_002871.1:p.Phe443Cys
|
|
|
NR_148940.3:n.1772T>G
|
|
|
|
NR_148941.3:n.1718T>G
|
|
|
|
NR_148942.3:n.1657T>G
|
|
|
