|
ENST00000341012.13:c.1296G>T
|
ENSP00000343034.7:p.Trp432Cys
|
|
|
ENST00000404875.7:n.1998G>T
|
|
|
|
ENST00000423007.6:c.1515G>T
|
ENSP00000404119.2:p.Trp505Cys
|
|
|
ENST00000677295.2:c.*1802G>T
|
ENSP00000504346.2:n.*1802G>T
|
|
|
ENST00000678264.2:c.*1641G>T
|
ENSP00000503157.2:n.*1641G>T
|
|
|
ENST00000682070.1:n.1923G>T
|
|
|
|
ENST00000682539.1:c.396G>T
|
|
|
|
ENST00000682813.1:n.1862G>T
|
|
|
|
ENST00000683392.1:n.4205G>T
|
|
|
|
ENST00000683712.1:n.1863G>T
|
|
|
|
ENST00000683900.1:n.3358G>T
|
|
|
|
ENST00000684062.1:n.2124G>T
|
|
|
|
ENST00000684579.1:n.3304G>T
|
|
|
|
ENST00000684679.1:n.685G>T
|
|
|
|
ENST00000341012.12:c.1296G>T
|
ENSP00000343034.7:p.Trp432Cys
|
|
|
ENST00000372220.5:c.327G>T
|
ENSP00000361294.5:p.Trp109Cys
|
|
|
ENST00000372228.9:c.1524G>T
|
ENSP00000361302.3:p.Trp508Cys
|
|
|
ENST00000402686.8:c.1458G>T
MANE Select
|
ENSP00000385797.4:p.Trp486Cys
|
|
|
ENST00000676640.1:c.1458G>T
|
ENSP00000503281.1:p.Trp486Cys
|
|
|
ENST00000676803.1:c.633G>T
|
ENSP00000503093.1:p.Trp211Cys
|
|
|
ENST00000676835.1:c.*673G>T
|
ENSP00000502911.1:n.*673G>T
|
|
|
ENST00000677029.1:c.1002G>T
|
ENSP00000502936.1:p.Trp334Cys
|
|
|
ENST00000677099.1:c.*1168G>T
|
ENSP00000504553.1:n.*1168G>T
|
|
|
ENST00000677216.1:c.1107G>T
|
ENSP00000503772.1:p.Trp369Cys
|
|
|
ENST00000677221.1:n.483G>T
|
|
|
|
ENST00000677295.1:c.*835G>T
|
ENSP00000504346.1:n.*835G>T
|
|
|
ENST00000677444.1:c.1403G>T
|
|
|
|
ENST00000677586.1:n.939G>T
|
|
|
|
ENST00000677626.1:c.1107G>T
|
ENSP00000503552.1:p.Trp369Cys
|
|
|
ENST00000677677.1:n.1418G>T
|
|
|
|
ENST00000677853.1:c.*466G>T
|
ENSP00000503488.1:n.*466G>T
|
|
|
ENST00000678202.1:n.617G>T
|
|
|
|
ENST00000678264.1:c.*835G>T
|
ENSP00000503157.1:n.*835G>T
|
|
|
ENST00000678303.1:c.1368G>T
|
ENSP00000503696.1:p.Trp456Cys
|
|
|
ENST00000678366.1:c.*1707G>T
|
ENSP00000504353.1:n.*1707G>T
|
|
|
ENST00000678546.1:c.*1403G>T
|
ENSP00000503062.1:n.*1403G>T
|
|
|
ENST00000678548.1:c.*1530G>T
|
ENSP00000503934.1:n.*1530G>T
|
|
|
ENST00000678626.1:n.1294G>T
|
|
|
|
ENST00000678733.1:c.539G>T
|
|
|
|
ENST00000678739.1:c.*1784G>T
|
ENSP00000503806.1:n.*1784G>T
|
|
|
ENST00000678833.1:c.*905G>T
|
ENSP00000503893.1:n.*905G>T
|
|
|
ENST00000679023.1:c.1296G>T
|
ENSP00000503718.1:p.Trp432Cys
|
|
|
ENST00000679076.1:c.1077G>T
|
|
|
|
ENST00000679111.1:c.*214G>T
|
ENSP00000504257.1:n.*214G>T
|
|
|
ENST00000679189.1:c.1107G>T
|
ENSP00000503356.1:p.Trp369Cys
|
|
|
ENST00000341012.11:c.1296G>T
|
ENSP00000343034.7:p.Trp432Cys
|
|
|
ENST00000372220.4:c.321G>T
|
ENSP00000361294.4:p.Trp107Cys
|
|
|
ENST00000372228.7:c.1524G>T
|
ENSP00000361302.3:p.Trp508Cys
|
|
|
ENST00000402686.7:c.1458G>T
|
ENSP00000385797.3:p.Trp486Cys
|
|
|
ENST00000404875.6:c.1107G>T
|
ENSP00000384531.2:p.Trp369Cys
|
|
|
ENST00000423007.5:c.1458G>T
|
ENSP00000404119.1:p.Trp486Cys
|
|
|
ENST00000467848.1:n.162G>T
|
|
|
|
ENST00000485278.5:n.2013G>T
|
|
|
|
NM_001077365.1:c.1458G>T
|
NP_001070833.1:p.Trp486Cys
|
|
|
NM_001077366.1:c.1296G>T
|
NP_001070834.1:p.Trp432Cys
|
|
|
NM_001136113.1:c.1458G>T
|
NP_001129585.1:p.Trp486Cys
|
|
|
NM_001136114.1:c.1107G>T
|
NP_001129586.1:p.Trp369Cys
|
|
|
NM_007171.3:c.1524G>T
|
NP_009102.3:p.Trp508Cys
|
|
|
XM_005272156.1:c.1524G>T
|
XP_005272213.1:p.Trp508Cys
|
|
|
XM_005272158.1:c.1362G>T
|
XP_005272215.1:p.Trp454Cys
|
|
|
XM_005272159.1:c.1173G>T
|
XP_005272216.1:p.Trp391Cys
|
|
|
XM_005272162.1:c.327G>T
|
XP_005272219.1:p.Trp109Cys
|
|
|
XM_006716932.1:c.1173G>T
|
XP_006716995.1:p.Trp391Cys
|
|
|
XM_011518140.1:c.1377G>T
|
XP_011516442.1:p.Trp459Cys
|
|
|
XM_011518141.1:c.1311G>T
|
XP_011516443.1:p.Trp437Cys
|
|
|
XM_011518142.1:c.1215G>T
|
XP_011516444.1:p.Trp405Cys
|
|
|
XM_011518143.1:c.1209G>T
|
XP_011516445.1:p.Trp403Cys
|
|
|
XM_011518145.1:c.1068G>T
|
XP_011516447.1:p.Trp356Cys
|
|
|
XM_011518147.1:c.396G>T
|
XP_011516449.1:p.Trp132Cys
|
|
|
XR_929703.1:n.1700G>T
|
|
|
|
NM_001353193.1:c.1524G>T
|
NP_001340122.1:p.Trp508Cys
|
|
|
NM_001353194.1:c.1296G>T
|
NP_001340123.1:p.Trp432Cys
|
|
|
NM_001353195.1:c.1107G>T
|
NP_001340124.1:p.Trp369Cys
|
|
|
NM_001353196.1:c.1368G>T
|
NP_001340125.1:p.Trp456Cys
|
|
|
NM_001353197.1:c.1362G>T
|
NP_001340126.1:p.Trp454Cys
|
|
|
NM_001353198.1:c.1362G>T
|
NP_001340127.1:p.Trp454Cys
|
|
|
NM_001353199.1:c.1173G>T
|
NP_001340128.1:p.Trp391Cys
|
|
|
NM_001353200.1:c.1002G>T
|
NP_001340129.1:p.Trp334Cys
|
|
|
NR_148391.1:n.1508G>T
|
|
|
|
NR_148392.1:n.1726G>T
|
|
|
|
NR_148393.1:n.1647G>T
|
|
|
|
NR_148394.1:n.1401G>T
|
|
|
|
NR_148395.1:n.1799G>T
|
|
|
|
NR_148396.1:n.1433G>T
|
|
|
|
NR_148397.1:n.1558G>T
|
|
|
|
NR_148398.1:n.1513G>T
|
|
|
|
NR_148399.1:n.2039G>T
|
|
|
|
NR_148400.1:n.1638G>T
|
|
|
|
XM_005272162.3:c.327G>T
|
XP_005272219.1:p.Trp109Cys
|
|
|
XM_006716932.2:c.1173G>T
|
XP_006716995.1:p.Trp391Cys
|
|
|
XM_011518140.2:c.1377G>T
|
XP_011516442.1:p.Trp459Cys
|
|
|
XM_011518141.2:c.1311G>T
|
XP_011516443.1:p.Trp437Cys
|
|
|
XM_011518142.2:c.1215G>T
|
XP_011516444.1:p.Trp405Cys
|
|
|
XM_011518143.2:c.1209G>T
|
XP_011516445.1:p.Trp403Cys
|
|
|
XM_011518145.2:c.1068G>T
|
XP_011516447.1:p.Trp356Cys
|
|
|
XM_017014205.2:c.327G>T
|
XP_016869694.1:p.Trp109Cys
|
|
|
XM_024447380.1:c.327G>T
|
XP_024303148.1:p.Trp109Cys
|
|
|
XM_024447381.1:c.633G>T
|
XP_024303149.1:p.Trp211Cys
|
|
|
XM_024447382.1:c.327G>T
|
XP_024303150.1:p.Trp109Cys
|
|
|
XR_001746160.2:n.1628G>T
|
|
|
|
XR_001746162.2:n.1833G>T
|
|
|
|
XR_001746164.1:n.1550G>T
|
|
|
|
XR_001746166.2:n.1845G>T
|
|
|
|
NM_001077365.2:c.1458G>T
MANE Select
|
NP_001070833.1:p.Trp486Cys
|
|
|
NM_001077366.2:c.1296G>T
|
NP_001070834.1:p.Trp432Cys
|
|
|
NM_001136113.2:c.1458G>T
|
NP_001129585.1:p.Trp486Cys
|
|
|
NM_001136114.2:c.1107G>T
|
NP_001129586.1:p.Trp369Cys
|
|
|
NM_001353193.2:c.1524G>T
|
NP_001340122.2:p.Trp508Cys
|
|
|
NM_001353194.2:c.1296G>T
|
NP_001340123.1:p.Trp432Cys
|
|
|
NM_001353195.2:c.1107G>T
|
NP_001340124.1:p.Trp369Cys
|
|
|
NM_001353196.2:c.1368G>T
|
NP_001340125.1:p.Trp456Cys
|
|
|
NM_001353197.2:c.1362G>T
|
NP_001340126.2:p.Trp454Cys
|
|
|
NM_001353198.2:c.1362G>T
|
NP_001340127.2:p.Trp454Cys
|
|
|
NM_001353199.2:c.1173G>T
|
NP_001340128.2:p.Trp391Cys
|
|
|
NM_001353200.2:c.1002G>T
|
NP_001340129.1:p.Trp334Cys
|
|
|
NM_001374689.1:c.1446G>T
|
NP_001361618.1:p.Trp482Cys
|
|
|
NM_001374690.1:c.1365+392G>T
|
NP_001361619.1:n.1365+392G>T
|
|
|
NM_001374691.1:c.1107G>T
|
NP_001361620.1:p.Trp369Cys
|
|
|
NM_001374692.1:c.1107G>T
|
NP_001361621.1:p.Trp369Cys
|
|
|
NM_001374693.1:c.1107G>T
|
NP_001361622.1:p.Trp369Cys
|
|
|
NM_001374695.1:c.1068G>T
|
NP_001361624.1:p.Trp356Cys
|
|
|
NM_007171.4:c.1524G>T
|
NP_009102.4:p.Trp508Cys
|
|
|
NR_148391.2:n.1492G>T
|
|
|
|
NR_148392.2:n.1710G>T
|
|
|
|
NR_148393.2:n.1631G>T
|
|
|
|
NR_148394.2:n.1385G>T
|
|
|
|
NR_148395.2:n.1783G>T
|
|
|
|
NR_148396.2:n.1417G>T
|
|
|
|
NR_148397.2:n.1542G>T
|
|
|
|
NR_148398.2:n.1497G>T
|
|
|
|
NR_148399.2:n.2023G>T
|
|
|
|
NR_148400.2:n.1622G>T
|
|
|
