|
ENST00000341012.13:c.1713G>T
|
ENSP00000343034.7:p.Trp571Cys
|
|
|
ENST00000404875.7:n.2415G>T
|
|
|
|
ENST00000423007.6:c.1932G>T
|
ENSP00000404119.2:p.Trp644Cys
|
|
|
ENST00000677295.2:c.*2219G>T
|
ENSP00000504346.2:n.*2219G>T
|
|
|
ENST00000678264.2:c.*2058G>T
|
ENSP00000503157.2:n.*2058G>T
|
|
|
ENST00000682070.1:n.2291-106G>T
|
|
|
|
ENST00000682813.1:n.2279G>T
|
|
|
|
ENST00000683392.1:n.4573-106G>T
|
|
|
|
ENST00000683712.1:n.2280G>T
|
|
|
|
ENST00000683900.1:n.3775G>T
|
|
|
|
ENST00000684062.1:n.2541G>T
|
|
|
|
ENST00000684579.1:n.3721G>T
|
|
|
|
ENST00000684679.1:n.1102G>T
|
|
|
|
ENST00000341012.12:c.1713G>T
|
ENSP00000343034.7:p.Trp571Cys
|
|
|
ENST00000372220.5:c.744G>T
|
ENSP00000361294.5:p.Trp248Cys
|
|
|
ENST00000372228.9:c.1941G>T
|
ENSP00000361302.3:p.Trp647Cys
|
|
|
ENST00000402686.8:c.1875G>T
MANE Select
|
ENSP00000385797.4:p.Trp625Cys
|
|
|
ENST00000676640.1:c.1875G>T
|
ENSP00000503281.1:p.Trp625Cys
|
|
|
ENST00000676803.1:c.936G>T
|
ENSP00000503093.1:p.Trp312Cys
|
|
|
ENST00000676835.1:c.*1090G>T
|
ENSP00000502911.1:n.*1090G>T
|
|
|
ENST00000677029.1:c.1419G>T
|
ENSP00000502936.1:p.Trp473Cys
|
|
|
ENST00000677099.1:c.*1585G>T
|
ENSP00000504553.1:n.*1585G>T
|
|
|
ENST00000677216.1:c.1524G>T
|
ENSP00000503772.1:p.Trp508Cys
|
|
|
ENST00000677221.1:n.900G>T
|
|
|
|
ENST00000677295.1:c.*1203-106G>T
|
ENSP00000504346.1:n.*1203-106G>T
|
|
|
ENST00000677444.1:c.1820G>T
|
|
|
|
ENST00000677586.1:n.1242G>T
|
|
|
|
ENST00000677626.1:c.1524G>T
|
ENSP00000503552.1:p.Trp508Cys
|
|
|
ENST00000677853.1:c.*883G>T
|
ENSP00000503488.1:n.*883G>T
|
|
|
ENST00000678202.1:n.1034G>T
|
|
|
|
ENST00000678264.1:c.*1252G>T
|
ENSP00000503157.1:n.*1252G>T
|
|
|
ENST00000678303.1:c.1785G>T
|
ENSP00000503696.1:p.Trp595Cys
|
|
|
ENST00000678366.1:c.*2124G>T
|
ENSP00000504353.1:n.*2124G>T
|
|
|
ENST00000678546.1:c.*1820G>T
|
ENSP00000503062.1:n.*1820G>T
|
|
|
ENST00000678548.1:c.*2014G>T
|
ENSP00000503934.1:n.*2014G>T
|
|
|
ENST00000678626.1:n.1711G>T
|
|
|
|
ENST00000678739.1:c.*2147-106G>T
|
ENSP00000503806.1:n.*2147-106G>T
|
|
|
ENST00000678833.1:c.*1627G>T
|
ENSP00000503893.1:n.*1627G>T
|
|
|
ENST00000679023.1:c.1713G>T
|
ENSP00000503718.1:p.Trp571Cys
|
|
|
ENST00000679076.1:c.1494G>T
|
|
|
|
ENST00000679111.1:c.*631G>T
|
ENSP00000504257.1:n.*631G>T
|
|
|
ENST00000679189.1:c.1524G>T
|
ENSP00000503356.1:p.Trp508Cys
|
|
|
ENST00000341012.11:c.1713G>T
|
ENSP00000343034.7:p.Trp571Cys
|
|
|
ENST00000372220.4:c.738G>T
|
ENSP00000361294.4:p.Trp246Cys
|
|
|
ENST00000372228.7:c.1941G>T
|
ENSP00000361302.3:p.Trp647Cys
|
|
|
ENST00000402686.7:c.1875G>T
|
ENSP00000385797.3:p.Trp625Cys
|
|
|
ENST00000404875.6:c.1524G>T
|
ENSP00000384531.2:p.Trp508Cys
|
|
|
ENST00000423007.5:c.1875G>T
|
ENSP00000404119.1:p.Trp625Cys
|
|
|
ENST00000485278.5:n.2425G>T
|
|
|
|
ENST00000494883.1:n.418G>T
|
|
|
|
NM_001077365.1:c.1875G>T
|
NP_001070833.1:p.Trp625Cys
|
|
|
NM_001077366.1:c.1713G>T
|
NP_001070834.1:p.Trp571Cys
|
|
|
NM_001136113.1:c.1875G>T
|
NP_001129585.1:p.Trp625Cys
|
|
|
NM_001136114.1:c.1524G>T
|
NP_001129586.1:p.Trp508Cys
|
|
|
NM_007171.3:c.1941G>T
|
NP_009102.3:p.Trp647Cys
|
|
|
XM_005272156.1:c.1941G>T
|
XP_005272213.1:p.Trp647Cys
|
|
|
XM_005272158.1:c.1779G>T
|
XP_005272215.1:p.Trp593Cys
|
|
|
XM_005272159.1:c.1590G>T
|
XP_005272216.1:p.Trp530Cys
|
|
|
XM_005272162.1:c.744G>T
|
XP_005272219.1:p.Trp248Cys
|
|
|
XM_006716932.1:c.1590G>T
|
XP_006716995.1:p.Trp530Cys
|
|
|
XM_011518140.1:c.1794G>T
|
XP_011516442.1:p.Trp598Cys
|
|
|
XM_011518141.1:c.1728G>T
|
XP_011516443.1:p.Trp576Cys
|
|
|
XM_011518142.1:c.1632G>T
|
XP_011516444.1:p.Trp544Cys
|
|
|
XM_011518143.1:c.1626G>T
|
XP_011516445.1:p.Trp542Cys
|
|
|
XM_011518145.1:c.1485G>T
|
XP_011516447.1:p.Trp495Cys
|
|
|
XM_011518147.1:c.813G>T
|
XP_011516449.1:p.Trp271Cys
|
|
|
XR_929703.1:n.2117G>T
|
|
|
|
NM_001353193.1:c.1941G>T
|
NP_001340122.1:p.Trp647Cys
|
|
|
NM_001353194.1:c.1713G>T
|
NP_001340123.1:p.Trp571Cys
|
|
|
NM_001353195.1:c.1524G>T
|
NP_001340124.1:p.Trp508Cys
|
|
|
NM_001353196.1:c.1785G>T
|
NP_001340125.1:p.Trp595Cys
|
|
|
NM_001353197.1:c.1779G>T
|
NP_001340126.1:p.Trp593Cys
|
|
|
NM_001353198.1:c.1779G>T
|
NP_001340127.1:p.Trp593Cys
|
|
|
NM_001353199.1:c.1590G>T
|
NP_001340128.1:p.Trp530Cys
|
|
|
NM_001353200.1:c.1419G>T
|
NP_001340129.1:p.Trp473Cys
|
|
|
NR_148391.1:n.1925G>T
|
|
|
|
NR_148392.1:n.2143G>T
|
|
|
|
NR_148393.1:n.2064G>T
|
|
|
|
NR_148394.1:n.1818G>T
|
|
|
|
NR_148395.1:n.2216G>T
|
|
|
|
NR_148396.1:n.1850G>T
|
|
|
|
NR_148397.1:n.1975G>T
|
|
|
|
NR_148398.1:n.1930G>T
|
|
|
|
NR_148399.1:n.2456G>T
|
|
|
|
NR_148400.1:n.2055G>T
|
|
|
|
XM_005272162.3:c.744G>T
|
XP_005272219.1:p.Trp248Cys
|
|
|
XM_006716932.2:c.1590G>T
|
XP_006716995.1:p.Trp530Cys
|
|
|
XM_011518140.2:c.1794G>T
|
XP_011516442.1:p.Trp598Cys
|
|
|
XM_011518141.2:c.1728G>T
|
XP_011516443.1:p.Trp576Cys
|
|
|
XM_011518142.2:c.1632G>T
|
XP_011516444.1:p.Trp544Cys
|
|
|
XM_011518143.2:c.1626G>T
|
XP_011516445.1:p.Trp542Cys
|
|
|
XM_011518145.2:c.1485G>T
|
XP_011516447.1:p.Trp495Cys
|
|
|
XM_017014205.2:c.744G>T
|
XP_016869694.1:p.Trp248Cys
|
|
|
XM_024447380.1:c.744G>T
|
XP_024303148.1:p.Trp248Cys
|
|
|
XM_024447381.1:c.1050G>T
|
XP_024303149.1:p.Trp350Cys
|
|
|
XM_024447382.1:c.744G>T
|
XP_024303150.1:p.Trp248Cys
|
|
|
XR_001746160.2:n.2045G>T
|
|
|
|
XR_001746162.2:n.2250G>T
|
|
|
|
XR_001746164.1:n.1967G>T
|
|
|
|
XR_001746166.2:n.2262G>T
|
|
|
|
NM_001077365.2:c.1875G>T
MANE Select
|
NP_001070833.1:p.Trp625Cys
|
|
|
NM_001077366.2:c.1713G>T
|
NP_001070834.1:p.Trp571Cys
|
|
|
NM_001136113.2:c.1875G>T
|
NP_001129585.1:p.Trp625Cys
|
|
|
NM_001136114.2:c.1524G>T
|
NP_001129586.1:p.Trp508Cys
|
|
|
NM_001353193.2:c.1941G>T
|
NP_001340122.2:p.Trp647Cys
|
|
|
NM_001353194.2:c.1713G>T
|
NP_001340123.1:p.Trp571Cys
|
|
|
NM_001353195.2:c.1524G>T
|
NP_001340124.1:p.Trp508Cys
|
|
|
NM_001353196.2:c.1785G>T
|
NP_001340125.1:p.Trp595Cys
|
|
|
NM_001353197.2:c.1779G>T
|
NP_001340126.2:p.Trp593Cys
|
|
|
NM_001353198.2:c.1779G>T
|
NP_001340127.2:p.Trp593Cys
|
|
|
NM_001353199.2:c.1590G>T
|
NP_001340128.2:p.Trp530Cys
|
|
|
NM_001353200.2:c.1419G>T
|
NP_001340129.1:p.Trp473Cys
|
|
|
NM_001374689.1:c.1863G>T
|
NP_001361618.1:p.Trp621Cys
|
|
|
NM_001374690.1:c.1656G>T
|
NP_001361619.1:p.Trp552Cys
|
|
|
NM_001374691.1:c.1524G>T
|
NP_001361620.1:p.Trp508Cys
|
|
|
NM_001374692.1:c.1524G>T
|
NP_001361621.1:p.Trp508Cys
|
|
|
NM_001374693.1:c.1524G>T
|
NP_001361622.1:p.Trp508Cys
|
|
|
NM_001374695.1:c.1485G>T
|
NP_001361624.1:p.Trp495Cys
|
|
|
NM_007171.4:c.1941G>T
|
NP_009102.4:p.Trp647Cys
|
|
|
NR_148391.2:n.1909G>T
|
|
|
|
NR_148392.2:n.2127G>T
|
|
|
|
NR_148393.2:n.2048G>T
|
|
|
|
NR_148394.2:n.1802G>T
|
|
|
|
NR_148395.2:n.2200G>T
|
|
|
|
NR_148396.2:n.1834G>T
|
|
|
|
NR_148397.2:n.1959G>T
|
|
|
|
NR_148398.2:n.1914G>T
|
|
|
|
NR_148399.2:n.2440G>T
|
|
|
|
NR_148400.2:n.2039G>T
|
|
|
