|
ENST00000341012.13:c.1940A>T
|
ENSP00000343034.7:p.Asp647Val
|
|
|
ENST00000404875.7:n.2642A>T
|
|
|
|
ENST00000423007.6:c.2159A>T
|
ENSP00000404119.2:p.Asp720Val
|
|
|
ENST00000677295.2:c.*2446A>T
|
ENSP00000504346.2:n.*2446A>T
|
|
|
ENST00000678264.2:c.*2285A>T
|
ENSP00000503157.2:n.*2285A>T
|
|
|
ENST00000682070.1:n.2412A>T
|
|
|
|
ENST00000682639.1:c.99A>T
|
|
|
|
ENST00000682813.1:n.2499A>T
|
|
|
|
ENST00000683231.1:c.99A>T
|
|
|
|
ENST00000683392.1:n.4694A>T
|
|
|
|
ENST00000683712.1:n.2507A>T
|
|
|
|
ENST00000683900.1:n.4002A>T
|
|
|
|
ENST00000684062.1:n.2768A>T
|
|
|
|
ENST00000684399.1:c.99A>T
|
|
|
|
ENST00000684579.1:n.3948A>T
|
|
|
|
ENST00000341012.12:c.1940A>T
|
ENSP00000343034.7:p.Asp647Val
|
|
|
ENST00000372220.5:c.971A>T
|
ENSP00000361294.5:p.Asp324Val
|
|
|
ENST00000372228.9:c.2168A>T
|
ENSP00000361302.3:p.Asp723Val
|
|
|
ENST00000402686.8:c.2102A>T
MANE Select
|
ENSP00000385797.4:p.Asp701Val
|
|
|
ENST00000676640.1:c.2102A>T
|
ENSP00000503281.1:p.Asp701Val
|
|
|
ENST00000676803.1:c.1163A>T
|
ENSP00000503093.1:p.Asp388Val
|
|
|
ENST00000676835.1:c.*1317A>T
|
ENSP00000502911.1:n.*1317A>T
|
|
|
ENST00000677029.1:c.1646A>T
|
ENSP00000502936.1:p.Asp549Val
|
|
|
ENST00000677099.1:c.*1812A>T
|
ENSP00000504553.1:n.*1812A>T
|
|
|
ENST00000677216.1:c.1751A>T
|
ENSP00000503772.1:p.Asp584Val
|
|
|
ENST00000677295.1:c.*1324A>T
|
ENSP00000504346.1:n.*1324A>T
|
|
|
ENST00000677444.1:c.2047A>T
|
|
|
|
ENST00000677586.1:n.1469A>T
|
|
|
|
ENST00000677626.1:c.1751A>T
|
ENSP00000503552.1:p.Asp584Val
|
|
|
ENST00000677853.1:c.*1110A>T
|
ENSP00000503488.1:n.*1110A>T
|
|
|
ENST00000678264.1:c.*1479A>T
|
ENSP00000503157.1:n.*1479A>T
|
|
|
ENST00000678303.1:c.2012A>T
|
ENSP00000503696.1:p.Asp671Val
|
|
|
ENST00000678366.1:c.*2351A>T
|
ENSP00000504353.1:n.*2351A>T
|
|
|
ENST00000678546.1:c.*2047A>T
|
ENSP00000503062.1:n.*2047A>T
|
|
|
ENST00000678548.1:c.*2241A>T
|
ENSP00000503934.1:n.*2241A>T
|
|
|
ENST00000678626.1:n.1938A>T
|
|
|
|
ENST00000678739.1:c.*2268A>T
|
ENSP00000503806.1:n.*2268A>T
|
|
|
ENST00000678833.1:c.*1854A>T
|
ENSP00000503893.1:n.*1854A>T
|
|
|
ENST00000679023.1:c.1940A>T
|
ENSP00000503718.1:p.Asp647Val
|
|
|
ENST00000679076.1:c.1721A>T
|
|
|
|
ENST00000679111.1:c.*858A>T
|
ENSP00000504257.1:n.*858A>T
|
|
|
ENST00000679189.1:c.1751A>T
|
ENSP00000503356.1:p.Asp584Val
|
|
|
ENST00000341012.11:c.1940A>T
|
ENSP00000343034.7:p.Asp647Val
|
|
|
ENST00000372220.4:c.965A>T
|
ENSP00000361294.4:p.Asp322Val
|
|
|
ENST00000372228.7:c.2168A>T
|
ENSP00000361302.3:p.Asp723Val
|
|
|
ENST00000402686.7:c.2102A>T
|
ENSP00000385797.3:p.Asp701Val
|
|
|
ENST00000404875.6:c.1751A>T
|
ENSP00000384531.2:p.Asp584Val
|
|
|
ENST00000423007.5:c.2102A>T
|
ENSP00000404119.1:p.Asp701Val
|
|
|
ENST00000485278.5:n.2652A>T
|
|
|
|
NM_001077365.1:c.2102A>T
|
NP_001070833.1:p.Asp701Val
|
|
|
NM_001077366.1:c.1940A>T
|
NP_001070834.1:p.Asp647Val
|
|
|
NM_001136113.1:c.2102A>T
|
NP_001129585.1:p.Asp701Val
|
|
|
NM_001136114.1:c.1751A>T
|
NP_001129586.1:p.Asp584Val
|
|
|
NM_007171.3:c.2168A>T
|
NP_009102.3:p.Asp723Val
|
|
|
XM_005272156.1:c.2168A>T
|
XP_005272213.1:p.Asp723Val
|
|
|
XM_005272158.1:c.2006A>T
|
XP_005272215.1:p.Asp669Val
|
|
|
XM_005272159.1:c.1817A>T
|
XP_005272216.1:p.Asp606Val
|
|
|
XM_005272162.1:c.971A>T
|
XP_005272219.1:p.Asp324Val
|
|
|
XM_006716932.1:c.1817A>T
|
XP_006716995.1:p.Asp606Val
|
|
|
XM_011518140.1:c.2021A>T
|
XP_011516442.1:p.Asp674Val
|
|
|
XM_011518141.1:c.1955A>T
|
XP_011516443.1:p.Asp652Val
|
|
|
XM_011518142.1:c.1859A>T
|
XP_011516444.1:p.Asp620Val
|
|
|
XM_011518143.1:c.1853A>T
|
XP_011516445.1:p.Asp618Val
|
|
|
XM_011518145.1:c.1712A>T
|
XP_011516447.1:p.Asp571Val
|
|
|
XM_011518147.1:c.1040A>T
|
XP_011516449.1:p.Asp347Val
|
|
|
XR_929703.1:n.2344A>T
|
|
|
|
NM_001353193.1:c.2168A>T
|
NP_001340122.1:p.Asp723Val
|
|
|
NM_001353194.1:c.1940A>T
|
NP_001340123.1:p.Asp647Val
|
|
|
NM_001353195.1:c.1751A>T
|
NP_001340124.1:p.Asp584Val
|
|
|
NM_001353196.1:c.2012A>T
|
NP_001340125.1:p.Asp671Val
|
|
|
NM_001353197.1:c.2006A>T
|
NP_001340126.1:p.Asp669Val
|
|
|
NM_001353198.1:c.2006A>T
|
NP_001340127.1:p.Asp669Val
|
|
|
NM_001353199.1:c.1817A>T
|
NP_001340128.1:p.Asp606Val
|
|
|
NM_001353200.1:c.1646A>T
|
NP_001340129.1:p.Asp549Val
|
|
|
NR_148391.1:n.2152A>T
|
|
|
|
NR_148392.1:n.2370A>T
|
|
|
|
NR_148393.1:n.2291A>T
|
|
|
|
NR_148394.1:n.2045A>T
|
|
|
|
NR_148395.1:n.2443A>T
|
|
|
|
NR_148396.1:n.2077A>T
|
|
|
|
NR_148397.1:n.2202A>T
|
|
|
|
NR_148398.1:n.2157A>T
|
|
|
|
NR_148399.1:n.2683A>T
|
|
|
|
NR_148400.1:n.2282A>T
|
|
|
|
XM_005272162.3:c.971A>T
|
XP_005272219.1:p.Asp324Val
|
|
|
XM_006716932.2:c.1817A>T
|
XP_006716995.1:p.Asp606Val
|
|
|
XM_011518140.2:c.2021A>T
|
XP_011516442.1:p.Asp674Val
|
|
|
XM_011518141.2:c.1955A>T
|
XP_011516443.1:p.Asp652Val
|
|
|
XM_011518142.2:c.1859A>T
|
XP_011516444.1:p.Asp620Val
|
|
|
XM_011518143.2:c.1853A>T
|
XP_011516445.1:p.Asp618Val
|
|
|
XM_011518145.2:c.1712A>T
|
XP_011516447.1:p.Asp571Val
|
|
|
XM_017014205.2:c.971A>T
|
XP_016869694.1:p.Asp324Val
|
|
|
XM_024447380.1:c.971A>T
|
XP_024303148.1:p.Asp324Val
|
|
|
XM_024447381.1:c.1277A>T
|
XP_024303149.1:p.Asp426Val
|
|
|
XM_024447382.1:c.971A>T
|
XP_024303150.1:p.Asp324Val
|
|
|
XR_001746160.2:n.2272A>T
|
|
|
|
XR_001746162.2:n.2477A>T
|
|
|
|
XR_001746164.1:n.2194A>T
|
|
|
|
XR_001746166.2:n.2489A>T
|
|
|
|
NM_001077365.2:c.2102A>T
MANE Select
|
NP_001070833.1:p.Asp701Val
|
|
|
NM_001077366.2:c.1940A>T
|
NP_001070834.1:p.Asp647Val
|
|
|
NM_001136113.2:c.2102A>T
|
NP_001129585.1:p.Asp701Val
|
|
|
NM_001136114.2:c.1751A>T
|
NP_001129586.1:p.Asp584Val
|
|
|
NM_001353193.2:c.2168A>T
|
NP_001340122.2:p.Asp723Val
|
|
|
NM_001353194.2:c.1940A>T
|
NP_001340123.1:p.Asp647Val
|
|
|
NM_001353195.2:c.1751A>T
|
NP_001340124.1:p.Asp584Val
|
|
|
NM_001353196.2:c.2012A>T
|
NP_001340125.1:p.Asp671Val
|
|
|
NM_001353197.2:c.2006A>T
|
NP_001340126.2:p.Asp669Val
|
|
|
NM_001353198.2:c.2006A>T
|
NP_001340127.2:p.Asp669Val
|
|
|
NM_001353199.2:c.1817A>T
|
NP_001340128.2:p.Asp606Val
|
|
|
NM_001353200.2:c.1646A>T
|
NP_001340129.1:p.Asp549Val
|
|
|
NM_001374689.1:c.2090A>T
|
NP_001361618.1:p.Asp697Val
|
|
|
NM_001374690.1:c.1883A>T
|
NP_001361619.1:p.Asp628Val
|
|
|
NM_001374691.1:c.1751A>T
|
NP_001361620.1:p.Asp584Val
|
|
|
NM_001374692.1:c.1751A>T
|
NP_001361621.1:p.Asp584Val
|
|
|
NM_001374693.1:c.1751A>T
|
NP_001361622.1:p.Asp584Val
|
|
|
NM_001374695.1:c.1712A>T
|
NP_001361624.1:p.Asp571Val
|
|
|
NM_007171.4:c.2168A>T
|
NP_009102.4:p.Asp723Val
|
|
|
NR_148391.2:n.2136A>T
|
|
|
|
NR_148392.2:n.2354A>T
|
|
|
|
NR_148393.2:n.2275A>T
|
|
|
|
NR_148394.2:n.2029A>T
|
|
|
|
NR_148395.2:n.2427A>T
|
|
|
|
NR_148396.2:n.2061A>T
|
|
|
|
NR_148397.2:n.2186A>T
|
|
|
|
NR_148398.2:n.2141A>T
|
|
|
|
NR_148399.2:n.2667A>T
|
|
|
|
NR_148400.2:n.2266A>T
|
|
|
