|
ENST00000341012.13:c.1193C>T
|
ENSP00000343034.7:p.Ala398Val
|
|
|
ENST00000404875.7:n.1895C>T
|
|
|
|
ENST00000423007.6:c.1412C>T
|
ENSP00000404119.2:p.Ala471Val
|
|
|
ENST00000677295.2:c.*1699C>T
|
ENSP00000504346.2:n.*1699C>T
|
|
|
ENST00000678264.2:c.*1538C>T
|
ENSP00000503157.2:n.*1538C>T
|
|
|
ENST00000682070.1:n.1820C>T
|
|
|
|
ENST00000682535.1:n.127C>T
|
|
|
|
ENST00000682539.1:c.293C>T
|
|
|
|
ENST00000682813.1:n.1620C>T
|
|
|
|
ENST00000683110.1:n.83C>T
|
|
|
|
ENST00000683392.1:n.4102C>T
|
|
|
|
ENST00000683712.1:n.1760C>T
|
|
|
|
ENST00000683900.1:n.3255C>T
|
|
|
|
ENST00000684062.1:n.2021C>T
|
|
|
|
ENST00000684579.1:n.3201C>T
|
|
|
|
ENST00000684679.1:n.582C>T
|
|
|
|
ENST00000341012.12:c.1193C>T
|
ENSP00000343034.7:p.Ala398Val
|
|
|
ENST00000372220.5:c.224C>T
|
ENSP00000361294.5:p.Ala75Val
|
|
|
ENST00000372228.9:c.1421C>T
|
ENSP00000361302.3:p.Ala474Val
|
|
|
ENST00000402686.8:c.1355C>T
MANE Select
|
ENSP00000385797.4:p.Ala452Val
|
|
|
ENST00000676640.1:c.1355C>T
|
ENSP00000503281.1:p.Ala452Val
|
|
|
ENST00000676803.1:c.530C>T
|
ENSP00000503093.1:p.Ala177Val
|
|
|
ENST00000676835.1:c.*570C>T
|
ENSP00000502911.1:n.*570C>T
|
|
|
ENST00000677029.1:c.899C>T
|
ENSP00000502936.1:p.Ala300Val
|
|
|
ENST00000677099.1:c.*1065C>T
|
ENSP00000504553.1:n.*1065C>T
|
|
|
ENST00000677216.1:c.1004C>T
|
ENSP00000503772.1:p.Ala335Val
|
|
|
ENST00000677221.1:n.380C>T
|
|
|
|
ENST00000677295.1:c.*732C>T
|
ENSP00000504346.1:n.*732C>T
|
|
|
ENST00000677444.1:c.1161C>T
|
|
|
|
ENST00000677586.1:n.836C>T
|
|
|
|
ENST00000677626.1:c.1004C>T
|
ENSP00000503552.1:p.Ala335Val
|
|
|
ENST00000677677.1:n.1315C>T
|
|
|
|
ENST00000677853.1:c.*363C>T
|
ENSP00000503488.1:n.*363C>T
|
|
|
ENST00000677983.1:n.444C>T
|
|
|
|
ENST00000678202.1:n.375C>T
|
|
|
|
ENST00000678264.1:c.*732C>T
|
ENSP00000503157.1:n.*732C>T
|
|
|
ENST00000678303.1:c.1265C>T
|
ENSP00000503696.1:p.Ala422Val
|
|
|
ENST00000678366.1:c.*1604C>T
|
ENSP00000504353.1:n.*1604C>T
|
|
|
ENST00000678546.1:c.*1300C>T
|
ENSP00000503062.1:n.*1300C>T
|
|
|
ENST00000678548.1:c.*1427C>T
|
ENSP00000503934.1:n.*1427C>T
|
|
|
ENST00000678626.1:n.1052C>T
|
|
|
|
ENST00000678733.1:c.436C>T
|
|
|
|
ENST00000678739.1:c.*1681C>T
|
ENSP00000503806.1:n.*1681C>T
|
|
|
ENST00000678795.1:n.442C>T
|
|
|
|
ENST00000678833.1:c.*802C>T
|
ENSP00000503893.1:n.*802C>T
|
|
|
ENST00000678942.1:c.535C>T
|
ENSP00000504690.1:n.535C>T
|
|
|
ENST00000679023.1:c.1193C>T
|
ENSP00000503718.1:p.Ala398Val
|
|
|
ENST00000679076.1:c.974C>T
|
|
|
|
ENST00000679111.1:c.1355C>T
|
ENSP00000504257.1:p.Ala452Val
|
|
|
ENST00000679189.1:c.1004C>T
|
ENSP00000503356.1:p.Ala335Val
|
|
|
ENST00000341012.11:c.1193C>T
|
ENSP00000343034.7:p.Ala398Val
|
|
|
ENST00000372220.4:c.218C>T
|
ENSP00000361294.4:p.Ala73Val
|
|
|
ENST00000372228.7:c.1421C>T
|
ENSP00000361302.3:p.Ala474Val
|
|
|
ENST00000402686.7:c.1355C>T
|
ENSP00000385797.3:p.Ala452Val
|
|
|
ENST00000404875.6:c.1004C>T
|
ENSP00000384531.2:p.Ala335Val
|
|
|
ENST00000423007.5:c.1355C>T
|
ENSP00000404119.1:p.Ala452Val
|
|
|
ENST00000485278.5:n.1910C>T
|
|
|
|
NM_001077365.1:c.1355C>T
|
NP_001070833.1:p.Ala452Val
|
|
|
NM_001077366.1:c.1193C>T
|
NP_001070834.1:p.Ala398Val
|
|
|
NM_001136113.1:c.1355C>T
|
NP_001129585.1:p.Ala452Val
|
|
|
NM_001136114.1:c.1004C>T
|
NP_001129586.1:p.Ala335Val
|
|
|
NM_007171.3:c.1421C>T
|
NP_009102.3:p.Ala474Val
|
|
|
XM_005272156.1:c.1421C>T
|
XP_005272213.1:p.Ala474Val
|
|
|
XM_005272158.1:c.1259C>T
|
XP_005272215.1:p.Ala420Val
|
|
|
XM_005272159.1:c.1070C>T
|
XP_005272216.1:p.Ala357Val
|
|
|
XM_005272162.1:c.224C>T
|
XP_005272219.1:p.Ala75Val
|
|
|
XM_006716932.1:c.1070C>T
|
XP_006716995.1:p.Ala357Val
|
|
|
XM_011518140.1:c.1274C>T
|
XP_011516442.1:p.Ala425Val
|
|
|
XM_011518141.1:c.1208C>T
|
XP_011516443.1:p.Ala403Val
|
|
|
XM_011518142.1:c.1112C>T
|
XP_011516444.1:p.Ala371Val
|
|
|
XM_011518143.1:c.1106C>T
|
XP_011516445.1:p.Ala369Val
|
|
|
XM_011518144.1:c.1421C>T
|
XP_011516446.1:p.Ala474Val
|
|
|
XM_011518145.1:c.965C>T
|
XP_011516447.1:p.Ala322Val
|
|
|
XM_011518146.1:c.1106C>T
|
XP_011516448.1:p.Ala369Val
|
|
|
XM_011518147.1:c.293C>T
|
XP_011516449.1:p.Ala98Val
|
|
|
XR_929703.1:n.1597C>T
|
|
|
|
NM_001353193.1:c.1421C>T
|
NP_001340122.1:p.Ala474Val
|
|
|
NM_001353194.1:c.1193C>T
|
NP_001340123.1:p.Ala398Val
|
|
|
NM_001353195.1:c.1004C>T
|
NP_001340124.1:p.Ala335Val
|
|
|
NM_001353196.1:c.1265C>T
|
NP_001340125.1:p.Ala422Val
|
|
|
NM_001353197.1:c.1259C>T
|
NP_001340126.1:p.Ala420Val
|
|
|
NM_001353198.1:c.1259C>T
|
NP_001340127.1:p.Ala420Val
|
|
|
NM_001353199.1:c.1070C>T
|
NP_001340128.1:p.Ala357Val
|
|
|
NM_001353200.1:c.899C>T
|
NP_001340129.1:p.Ala300Val
|
|
|
NR_148391.1:n.1405C>T
|
|
|
|
NR_148392.1:n.1623C>T
|
|
|
|
NR_148393.1:n.1405C>T
|
|
|
|
NR_148394.1:n.1298C>T
|
|
|
|
NR_148395.1:n.1557C>T
|
|
|
|
NR_148396.1:n.1191C>T
|
|
|
|
NR_148397.1:n.1455C>T
|
|
|
|
NR_148398.1:n.1410C>T
|
|
|
|
NR_148399.1:n.1797C>T
|
|
|
|
NR_148400.1:n.1396C>T
|
|
|
|
XM_005272162.3:c.224C>T
|
XP_005272219.1:p.Ala75Val
|
|
|
XM_006716932.2:c.1070C>T
|
XP_006716995.1:p.Ala357Val
|
|
|
XM_011518140.2:c.1274C>T
|
XP_011516442.1:p.Ala425Val
|
|
|
XM_011518141.2:c.1208C>T
|
XP_011516443.1:p.Ala403Val
|
|
|
XM_011518142.2:c.1112C>T
|
XP_011516444.1:p.Ala371Val
|
|
|
XM_011518143.2:c.1106C>T
|
XP_011516445.1:p.Ala369Val
|
|
|
XM_011518145.2:c.965C>T
|
XP_011516447.1:p.Ala322Val
|
|
|
XM_017014205.2:c.224C>T
|
XP_016869694.1:p.Ala75Val
|
|
|
XM_024447380.1:c.224C>T
|
XP_024303148.1:p.Ala75Val
|
|
|
XM_024447381.1:c.530C>T
|
XP_024303149.1:p.Ala177Val
|
|
|
XM_024447382.1:c.224C>T
|
XP_024303150.1:p.Ala75Val
|
|
|
XR_001746160.2:n.1525C>T
|
|
|
|
XR_001746162.2:n.1591C>T
|
|
|
|
XR_001746164.1:n.1308C>T
|
|
|
|
XR_001746166.2:n.1742C>T
|
|
|
|
NM_001077365.2:c.1355C>T
MANE Select
|
NP_001070833.1:p.Ala452Val
|
|
|
NM_001077366.2:c.1193C>T
|
NP_001070834.1:p.Ala398Val
|
|
|
NM_001136113.2:c.1355C>T
|
NP_001129585.1:p.Ala452Val
|
|
|
NM_001136114.2:c.1004C>T
|
NP_001129586.1:p.Ala335Val
|
|
|
NM_001353193.2:c.1421C>T
|
NP_001340122.2:p.Ala474Val
|
|
|
NM_001353194.2:c.1193C>T
|
NP_001340123.1:p.Ala398Val
|
|
|
NM_001353195.2:c.1004C>T
|
NP_001340124.1:p.Ala335Val
|
|
|
NM_001353196.2:c.1265C>T
|
NP_001340125.1:p.Ala422Val
|
|
|
NM_001353197.2:c.1259C>T
|
NP_001340126.2:p.Ala420Val
|
|
|
NM_001353198.2:c.1259C>T
|
NP_001340127.2:p.Ala420Val
|
|
|
NM_001353199.2:c.1070C>T
|
NP_001340128.2:p.Ala357Val
|
|
|
NM_001353200.2:c.899C>T
|
NP_001340129.1:p.Ala300Val
|
|
|
NM_001374689.1:c.1343C>T
|
NP_001361618.1:p.Ala448Val
|
|
|
NM_001374690.1:c.1355C>T
|
NP_001361619.1:p.Ala452Val
|
|
|
NM_001374691.1:c.1004C>T
|
NP_001361620.1:p.Ala335Val
|
|
|
NM_001374692.1:c.1004C>T
|
NP_001361621.1:p.Ala335Val
|
|
|
NM_001374693.1:c.1004C>T
|
NP_001361622.1:p.Ala335Val
|
|
|
NM_001374695.1:c.965C>T
|
NP_001361624.1:p.Ala322Val
|
|
|
NM_007171.4:c.1421C>T
|
NP_009102.4:p.Ala474Val
|
|
|
NR_148391.2:n.1389C>T
|
|
|
|
NR_148392.2:n.1607C>T
|
|
|
|
NR_148393.2:n.1389C>T
|
|
|
|
NR_148394.2:n.1282C>T
|
|
|
|
NR_148395.2:n.1541C>T
|
|
|
|
NR_148396.2:n.1175C>T
|
|
|
|
NR_148397.2:n.1439C>T
|
|
|
|
NR_148398.2:n.1394C>T
|
|
|
|
NR_148399.2:n.1781C>T
|
|
|
|
NR_148400.2:n.1380C>T
|
|
|
