|
ENST00000341012.13:c.1095G>T
|
ENSP00000343034.7:p.Gln365His
|
|
|
ENST00000404875.7:n.1797G>T
|
|
|
|
ENST00000423007.6:c.1314G>T
|
ENSP00000404119.2:p.Gln438His
|
|
|
ENST00000677295.2:c.*1601G>T
|
ENSP00000504346.2:n.*1601G>T
|
|
|
ENST00000678264.2:c.*1440G>T
|
ENSP00000503157.2:n.*1440G>T
|
|
|
ENST00000682070.1:n.1722G>T
|
|
|
|
ENST00000682539.1:c.82G>T
|
|
|
|
ENST00000682813.1:n.1522G>T
|
|
|
|
ENST00000683392.1:n.4004G>T
|
|
|
|
ENST00000683712.1:n.1662G>T
|
|
|
|
ENST00000683900.1:n.3157G>T
|
|
|
|
ENST00000684062.1:n.1923G>T
|
|
|
|
ENST00000684579.1:n.3103G>T
|
|
|
|
ENST00000341012.12:c.1095G>T
|
ENSP00000343034.7:p.Gln365His
|
|
|
ENST00000372220.5:c.126G>T
|
ENSP00000361294.5:p.Gln42His
|
|
|
ENST00000372228.9:c.1323G>T
|
ENSP00000361302.3:p.Gln441His
|
|
|
ENST00000402686.8:c.1257G>T
MANE Select
|
ENSP00000385797.4:p.Gln419His
|
|
|
ENST00000676640.1:c.1257G>T
|
ENSP00000503281.1:p.Gln419His
|
|
|
ENST00000676803.1:c.432G>T
|
ENSP00000503093.1:p.Gln144His
|
|
|
ENST00000676835.1:c.*472G>T
|
ENSP00000502911.1:n.*472G>T
|
|
|
ENST00000677029.1:c.801G>T
|
ENSP00000502936.1:p.Gln267His
|
|
|
ENST00000677099.1:c.*967G>T
|
ENSP00000504553.1:n.*967G>T
|
|
|
ENST00000677216.1:c.906G>T
|
ENSP00000503772.1:p.Gln302His
|
|
|
ENST00000677295.1:c.*634G>T
|
ENSP00000504346.1:n.*634G>T
|
|
|
ENST00000677444.1:c.1063G>T
|
|
|
|
ENST00000677586.1:n.738G>T
|
|
|
|
ENST00000677626.1:c.906G>T
|
ENSP00000503552.1:p.Gln302His
|
|
|
ENST00000677677.1:n.1217G>T
|
|
|
|
ENST00000677853.1:c.*265G>T
|
ENSP00000503488.1:n.*265G>T
|
|
|
ENST00000677944.1:c.519G>T
|
|
|
|
ENST00000678264.1:c.*634G>T
|
ENSP00000503157.1:n.*634G>T
|
|
|
ENST00000678303.1:c.1167G>T
|
ENSP00000503696.1:p.Gln389His
|
|
|
ENST00000678366.1:c.*1506G>T
|
ENSP00000504353.1:n.*1506G>T
|
|
|
ENST00000678546.1:c.*1202G>T
|
ENSP00000503062.1:n.*1202G>T
|
|
|
ENST00000678548.1:c.*1329G>T
|
ENSP00000503934.1:n.*1329G>T
|
|
|
ENST00000678626.1:n.954G>T
|
|
|
|
ENST00000678733.1:c.338G>T
|
|
|
|
ENST00000678739.1:c.*1583G>T
|
ENSP00000503806.1:n.*1583G>T
|
|
|
ENST00000678795.1:n.344G>T
|
|
|
|
ENST00000678833.1:c.*704G>T
|
ENSP00000503893.1:n.*704G>T
|
|
|
ENST00000678942.1:c.437G>T
|
ENSP00000504690.1:n.437G>T
|
|
|
ENST00000679023.1:c.1095G>T
|
ENSP00000503718.1:p.Gln365His
|
|
|
ENST00000679076.1:c.876G>T
|
|
|
|
ENST00000679111.1:c.1257G>T
|
ENSP00000504257.1:p.Gln419His
|
|
|
ENST00000679189.1:c.906G>T
|
ENSP00000503356.1:p.Gln302His
|
|
|
ENST00000341012.11:c.1095G>T
|
ENSP00000343034.7:p.Gln365His
|
|
|
ENST00000372228.7:c.1323G>T
|
ENSP00000361302.3:p.Gln441His
|
|
|
ENST00000402686.7:c.1257G>T
|
ENSP00000385797.3:p.Gln419His
|
|
|
ENST00000404875.6:c.906G>T
|
ENSP00000384531.2:p.Gln302His
|
|
|
ENST00000423007.5:c.1257G>T
|
ENSP00000404119.1:p.Gln419His
|
|
|
ENST00000485278.5:n.1812G>T
|
|
|
|
NM_001077365.1:c.1257G>T
|
NP_001070833.1:p.Gln419His
|
|
|
NM_001077366.1:c.1095G>T
|
NP_001070834.1:p.Gln365His
|
|
|
NM_001136113.1:c.1257G>T
|
NP_001129585.1:p.Gln419His
|
|
|
NM_001136114.1:c.906G>T
|
NP_001129586.1:p.Gln302His
|
|
|
NM_007171.3:c.1323G>T
|
NP_009102.3:p.Gln441His
|
|
|
XM_005272156.1:c.1323G>T
|
XP_005272213.1:p.Gln441His
|
|
|
XM_005272158.1:c.1161G>T
|
XP_005272215.1:p.Gln387His
|
|
|
XM_005272159.1:c.972G>T
|
XP_005272216.1:p.Gln324His
|
|
|
XM_005272162.1:c.126G>T
|
XP_005272219.1:p.Gln42His
|
|
|
XM_006716932.1:c.972G>T
|
XP_006716995.1:p.Gln324His
|
|
|
XM_011518140.1:c.1176G>T
|
XP_011516442.1:p.Gln392His
|
|
|
XM_011518141.1:c.1110G>T
|
XP_011516443.1:p.Gln370His
|
|
|
XM_011518142.1:c.1014G>T
|
XP_011516444.1:p.Gln338His
|
|
|
XM_011518143.1:c.1008G>T
|
XP_011516445.1:p.Gln336His
|
|
|
XM_011518144.1:c.1323G>T
|
XP_011516446.1:p.Gln441His
|
|
|
XM_011518145.1:c.867G>T
|
XP_011516447.1:p.Gln289His
|
|
|
XM_011518146.1:c.1008G>T
|
XP_011516448.1:p.Gln336His
|
|
|
XR_929703.1:n.1499G>T
|
|
|
|
NM_001353193.1:c.1323G>T
|
NP_001340122.1:p.Gln441His
|
|
|
NM_001353194.1:c.1095G>T
|
NP_001340123.1:p.Gln365His
|
|
|
NM_001353195.1:c.906G>T
|
NP_001340124.1:p.Gln302His
|
|
|
NM_001353196.1:c.1167G>T
|
NP_001340125.1:p.Gln389His
|
|
|
NM_001353197.1:c.1161G>T
|
NP_001340126.1:p.Gln387His
|
|
|
NM_001353198.1:c.1161G>T
|
NP_001340127.1:p.Gln387His
|
|
|
NM_001353199.1:c.972G>T
|
NP_001340128.1:p.Gln324His
|
|
|
NM_001353200.1:c.801G>T
|
NP_001340129.1:p.Gln267His
|
|
|
NR_148391.1:n.1307G>T
|
|
|
|
NR_148392.1:n.1525G>T
|
|
|
|
NR_148393.1:n.1307G>T
|
|
|
|
NR_148394.1:n.1200G>T
|
|
|
|
NR_148395.1:n.1459G>T
|
|
|
|
NR_148396.1:n.1093G>T
|
|
|
|
NR_148397.1:n.1357G>T
|
|
|
|
NR_148398.1:n.1312G>T
|
|
|
|
NR_148399.1:n.1699G>T
|
|
|
|
NR_148400.1:n.1298G>T
|
|
|
|
XM_005272162.3:c.126G>T
|
XP_005272219.1:p.Gln42His
|
|
|
XM_006716932.2:c.972G>T
|
XP_006716995.1:p.Gln324His
|
|
|
XM_011518140.2:c.1176G>T
|
XP_011516442.1:p.Gln392His
|
|
|
XM_011518141.2:c.1110G>T
|
XP_011516443.1:p.Gln370His
|
|
|
XM_011518142.2:c.1014G>T
|
XP_011516444.1:p.Gln338His
|
|
|
XM_011518143.2:c.1008G>T
|
XP_011516445.1:p.Gln336His
|
|
|
XM_011518145.2:c.867G>T
|
XP_011516447.1:p.Gln289His
|
|
|
XM_017014205.2:c.126G>T
|
XP_016869694.1:p.Gln42His
|
|
|
XM_024447380.1:c.126G>T
|
XP_024303148.1:p.Gln42His
|
|
|
XM_024447381.1:c.432G>T
|
XP_024303149.1:p.Gln144His
|
|
|
XM_024447382.1:c.126G>T
|
XP_024303150.1:p.Gln42His
|
|
|
XR_001746160.2:n.1427G>T
|
|
|
|
XR_001746162.2:n.1493G>T
|
|
|
|
XR_001746164.1:n.1210G>T
|
|
|
|
XR_001746166.2:n.1644G>T
|
|
|
|
NM_001077365.2:c.1257G>T
MANE Select
|
NP_001070833.1:p.Gln419His
|
|
|
NM_001077366.2:c.1095G>T
|
NP_001070834.1:p.Gln365His
|
|
|
NM_001136113.2:c.1257G>T
|
NP_001129585.1:p.Gln419His
|
|
|
NM_001136114.2:c.906G>T
|
NP_001129586.1:p.Gln302His
|
|
|
NM_001353193.2:c.1323G>T
|
NP_001340122.2:p.Gln441His
|
|
|
NM_001353194.2:c.1095G>T
|
NP_001340123.1:p.Gln365His
|
|
|
NM_001353195.2:c.906G>T
|
NP_001340124.1:p.Gln302His
|
|
|
NM_001353196.2:c.1167G>T
|
NP_001340125.1:p.Gln389His
|
|
|
NM_001353197.2:c.1161G>T
|
NP_001340126.2:p.Gln387His
|
|
|
NM_001353198.2:c.1161G>T
|
NP_001340127.2:p.Gln387His
|
|
|
NM_001353199.2:c.972G>T
|
NP_001340128.2:p.Gln324His
|
|
|
NM_001353200.2:c.801G>T
|
NP_001340129.1:p.Gln267His
|
|
|
NM_001374689.1:c.1245G>T
|
NP_001361618.1:p.Gln415His
|
|
|
NM_001374690.1:c.1257G>T
|
NP_001361619.1:p.Gln419His
|
|
|
NM_001374691.1:c.906G>T
|
NP_001361620.1:p.Gln302His
|
|
|
NM_001374692.1:c.906G>T
|
NP_001361621.1:p.Gln302His
|
|
|
NM_001374693.1:c.906G>T
|
NP_001361622.1:p.Gln302His
|
|
|
NM_001374695.1:c.867G>T
|
NP_001361624.1:p.Gln289His
|
|
|
NM_007171.4:c.1323G>T
|
NP_009102.4:p.Gln441His
|
|
|
NR_148391.2:n.1291G>T
|
|
|
|
NR_148392.2:n.1509G>T
|
|
|
|
NR_148393.2:n.1291G>T
|
|
|
|
NR_148394.2:n.1184G>T
|
|
|
|
NR_148395.2:n.1443G>T
|
|
|
|
NR_148396.2:n.1077G>T
|
|
|
|
NR_148397.2:n.1341G>T
|
|
|
|
NR_148398.2:n.1296G>T
|
|
|
|
NR_148399.2:n.1683G>T
|
|
|
|
NR_148400.2:n.1282G>T
|
|
|
