|
ENST00000696835.1:c.*1152G>C
|
ENSP00000512913.1:n.*1152G>C
|
|
|
ENST00000696836.1:c.*1152G>C
|
ENSP00000512914.1:n.*1152G>C
|
|
|
ENST00000696837.1:c.*1981G>C
|
ENSP00000512915.1:n.*1981G>C
|
|
|
ENST00000696838.1:c.*1152G>C
|
ENSP00000512916.1:n.*1152G>C
|
|
|
ENST00000696839.1:c.*1152G>C
|
ENSP00000512917.1:n.*1152G>C
|
|
|
ENST00000707135.1:n.1221-259C>G
(PRRT3)
|
|
|
|
ENST00000707136.1:n.1826-265C>G
(PRRT3)
|
|
|
|
ENST00000397170.8:c.504G>C
(CRELD1)
|
ENSP00000380355.4:p.Gln168His
|
|
|
ENST00000414117.6:c.393G>C
(CRELD1)
|
ENSP00000411021.2:p.Gln131His
|
|
|
ENST00000467713.6:n.610G>C
(CRELD1)
|
|
|
|
ENST00000489674.6:n.80G>C
(CRELD1)
|
|
|
|
ENST00000673635.2:c.*170G>C
(CRELD1)
|
ENSP00000501186.2:n.*170G>C
|
|
|
ENST00000673677.2:c.504G>C
(CRELD1)
|
ENSP00000500985.2:p.Gln168His
|
|
|
ENST00000673737.2:c.504G>C
(CRELD1)
|
ENSP00000501208.1:p.Gln168His
|
|
|
ENST00000673935.2:c.504G>C
(CRELD1)
|
ENSP00000500961.2:p.Gln168His
|
|
|
ENST00000674067.2:c.*86G>C
(CRELD1)
|
ENSP00000501009.2:n.*86G>C
|
|
|
ENST00000681970.1:n.1170G>C
|
|
|
|
ENST00000682120.1:n.606G>C
(CRELD1)
|
|
|
|
ENST00000682122.1:c.*152G>C
|
ENSP00000507036.1:n.*152G>C
|
|
|
ENST00000682200.1:c.412G>C
(CRELD1)
|
ENSP00000508321.1:p.Val138Leu
|
|
|
ENST00000682318.1:c.301G>C
(CRELD1)
|
ENSP00000507946.1:p.Val101Leu
|
|
|
ENST00000682397.1:c.301G>C
(CRELD1)
|
ENSP00000507177.1:p.Val101Leu
|
|
|
ENST00000682403.1:c.301G>C
(CRELD1)
|
ENSP00000507865.1:p.Val101Leu
|
|
|
ENST00000682570.1:c.504G>C
(CRELD1)
|
ENSP00000507973.1:p.Gln168His
|
|
|
ENST00000682642.1:c.504G>C
(CRELD1)
|
ENSP00000507251.1:p.Gln168His
|
|
|
ENST00000682771.1:c.504G>C
(CRELD1)
|
ENSP00000507114.1:p.Gln168His
|
|
|
ENST00000682783.1:c.504G>C
(CRELD1)
|
ENSP00000508358.1:p.Gln168His
|
|
|
ENST00000682790.1:c.*78G>C
(CRELD1)
|
ENSP00000507904.1:n.*78G>C
|
|
|
ENST00000682798.1:n.1109G>C
(CRELD1)
|
|
|
|
ENST00000682866.1:n.523G>C
(CRELD1)
|
|
|
|
ENST00000682884.1:n.998G>C
(CRELD1)
|
|
|
|
ENST00000682906.1:c.301G>C
(CRELD1)
|
ENSP00000507674.1:p.Val101Leu
|
|
|
ENST00000682907.1:c.504G>C
(CRELD1)
|
ENSP00000508209.1:p.Gln168His
|
|
|
ENST00000682929.1:c.504G>C
(CRELD1)
|
ENSP00000507930.1:p.Gln168His
|
|
|
ENST00000682967.1:n.689G>C
(CRELD1)
|
|
|
|
ENST00000683061.1:n.2087G>C
|
|
|
|
ENST00000683083.1:n.612G>C
(CRELD1)
|
|
|
|
ENST00000683127.1:c.504G>C
(CRELD1)
|
ENSP00000506906.1:p.Gln168His
|
|
|
ENST00000683189.1:c.504G>C
(CRELD1)
|
ENSP00000508018.1:p.Gln168His
|
|
|
ENST00000683232.1:c.301G>C
(CRELD1)
|
ENSP00000506842.1:p.Val101Leu
|
|
|
ENST00000683239.1:n.634G>C
(CRELD1)
|
|
|
|
ENST00000683279.1:n.583G>C
(CRELD1)
|
|
|
|
ENST00000683301.1:c.301G>C
(CRELD1)
|
ENSP00000507718.1:p.Val101Leu
|
|
|
ENST00000683316.1:c.504G>C
(CRELD1)
|
ENSP00000507076.1:p.Gln168His
|
|
|
ENST00000683388.1:n.2608G>C
(CRELD1)
|
|
|
|
ENST00000683467.1:n.726G>C
(CRELD1)
|
|
|
|
ENST00000683484.1:c.*152G>C
|
ENSP00000507040.1:n.*152G>C
|
|
|
ENST00000683547.1:c.504G>C
(CRELD1)
|
ENSP00000507258.1:p.Gln168His
|
|
|
ENST00000683601.1:c.504G>C
(CRELD1)
|
ENSP00000507737.1:p.Gln168His
|
|
|
ENST00000683603.1:c.504G>C
(CRELD1)
|
ENSP00000508016.1:p.Gln168His
|
|
|
ENST00000683736.1:c.350-218G>C
(CRELD1)
|
ENSP00000507761.1:n.350-218G>C
|
|
|
ENST00000683835.1:c.504G>C
(CRELD1)
|
ENSP00000508148.1:p.Gln168His
|
|
|
ENST00000683849.1:c.301G>C
(CRELD1)
|
ENSP00000506901.1:p.Val101Leu
|
|
|
ENST00000683888.1:n.1109G>C
(CRELD1)
|
|
|
|
ENST00000683891.1:c.412G>C
(CRELD1)
|
ENSP00000506972.1:p.Val138Leu
|
|
|
ENST00000683921.1:c.*558G>C
(CRELD1)
|
ENSP00000507395.1:n.*558G>C
|
|
|
ENST00000683970.1:c.504G>C
(CRELD1)
|
ENSP00000507906.1:p.Gln168His
|
|
|
ENST00000683982.1:c.504G>C
(CRELD1)
|
ENSP00000507437.1:p.Gln168His
|
|
|
ENST00000684181.1:c.504G>C
(CRELD1)
|
ENSP00000507522.1:p.Gln168His
|
|
|
ENST00000684212.1:c.504G>C
(CRELD1)
|
ENSP00000507565.1:p.Gln168His
|
|
|
ENST00000684243.1:c.*170G>C
(CRELD1)
|
ENSP00000506959.1:n.*170G>C
|
|
|
ENST00000684291.1:c.504G>C
(CRELD1)
|
ENSP00000506927.1:p.Gln168His
|
|
|
ENST00000684318.1:c.504G>C
(CRELD1)
|
ENSP00000508180.1:p.Gln168His
|
|
|
ENST00000684419.1:n.1086G>C
(CRELD1)
|
|
|
|
ENST00000684493.1:c.504G>C
(CRELD1)
|
ENSP00000507127.1:p.Gln168His
|
|
|
ENST00000684526.1:c.412G>C
(CRELD1)
|
ENSP00000508163.1:p.Val138Leu
|
|
|
ENST00000684532.1:c.504G>C
(CRELD1)
|
ENSP00000508212.1:p.Gln168His
|
|
|
ENST00000684601.1:c.504G>C
(CRELD1)
|
ENSP00000507886.1:p.Gln168His
|
|
|
ENST00000684613.1:c.504G>C
(CRELD1)
|
ENSP00000508218.1:p.Gln168His
|
|
|
ENST00000684629.1:c.301G>C
(CRELD1)
|
ENSP00000506879.1:p.Val101Leu
|
|
|
ENST00000684648.1:c.412G>C
(CRELD1)
|
ENSP00000507931.1:p.Val138Leu
|
|
|
ENST00000383811.8:c.504G>C
(CRELD1)
|
ENSP00000373322.3:p.Gln168His
|
|
|
ENST00000452070.6:c.504G>C
(CRELD1)
MANE Select
|
ENSP00000393643.2:p.Gln168His
|
|
|
ENST00000673635.1:c.359G>C
(CRELD1)
|
ENSP00000501186.1:n.359G>C
|
|
|
ENST00000673677.1:c.774G>C
|
ENSP00000500985.1:n.774G>C
|
|
|
ENST00000673737.1:c.504G>C
(CRELD1)
|
ENSP00000501208.1:p.Gln168His
|
|
|
ENST00000673935.1:c.31G>C
(CRELD1)
|
|
|
|
ENST00000674057.1:c.*170G>C
(CRELD1)
|
ENSP00000501128.1:n.*170G>C
|
|
|
ENST00000674067.1:c.269G>C
|
ENSP00000501009.1:n.269G>C
|
|
|
ENST00000326434.9:c.504G>C
(CRELD1)
|
ENSP00000321856.5:p.Gln168His
|
|
|
ENST00000383811.7:c.504G>C
(CRELD1)
|
ENSP00000373322.3:p.Gln168His
|
|
|
ENST00000397170.7:c.504G>C
(CRELD1)
|
ENSP00000380355.3:p.Gln168His
|
|
|
ENST00000414117.5:c.301G>C
(CRELD1)
|
ENSP00000411021.1:p.Val101Leu
|
|
|
ENST00000452070.5:c.504G>C
(CRELD1)
|
ENSP00000393643.1:p.Gln168His
|
|
|
NM_001031717.3:c.504G>C
(CRELD1)
|
NP_001026887.1:p.Gln168His
|
|
|
NM_001077415.2:c.504G>C
(CRELD1)
|
NP_001070883.1:p.Gln168His
|
|
|
NM_015513.4:c.504G>C
(CRELD1)
|
NP_056328.2:p.Gln168His
|
|
|
XM_011534108.1:c.504G>C
(CRELD1)
|
XP_011532410.1:p.Gln168His
|
|
|
XR_002959584.1:n.588G>C
(CRELD1)
|
|
|
|
NM_001031717.4:c.504G>C
(CRELD1)
|
NP_001026887.2:p.Gln168His
|
|
|
NM_001077415.3:c.504G>C
(CRELD1)
MANE Select
|
NP_001070883.2:p.Gln168His
|
|
|
NM_001374316.1:c.504G>C
(CRELD1)
|
NP_001361245.1:p.Gln168His
|
|
|
NM_001374317.1:c.504G>C
(CRELD1)
|
NP_001361246.1:p.Gln168His
|
|
|
NM_001374318.1:c.504G>C
(CRELD1)
|
NP_001361247.1:p.Gln168His
|
|
|
NM_001374319.1:c.504G>C
(CRELD1)
|
NP_001361248.1:p.Gln168His
|
|
|
NM_001374320.1:c.504G>C
(CRELD1)
|
NP_001361249.1:p.Gln168His
|
|
|
NM_015513.6:c.504G>C
(CRELD1)
|
NP_056328.3:p.Gln168His
|
|
|
NR_164475.1:n.542G>C
(CRELD1)
|
|
|
|
NR_164476.1:n.518G>C
(CRELD1)
|
|
|
|
NR_164477.1:n.892G>C
(CRELD1)
|
|
|
