|
ENST00000341012.13:c.1717G>T
|
ENSP00000343034.7:p.Val573Leu
|
|
|
ENST00000404875.7:n.2419G>T
|
|
|
|
ENST00000423007.6:c.1936G>T
|
ENSP00000404119.2:p.Val646Leu
|
|
|
ENST00000677295.2:c.*2223G>T
|
ENSP00000504346.2:n.*2223G>T
|
|
|
ENST00000678264.2:c.*2062G>T
|
ENSP00000503157.2:n.*2062G>T
|
|
|
ENST00000682070.1:n.2291-102G>T
|
|
|
|
ENST00000682813.1:n.2283G>T
|
|
|
|
ENST00000683392.1:n.4573-102G>T
|
|
|
|
ENST00000683712.1:n.2284G>T
|
|
|
|
ENST00000683900.1:n.3779G>T
|
|
|
|
ENST00000684062.1:n.2545G>T
|
|
|
|
ENST00000684579.1:n.3725G>T
|
|
|
|
ENST00000684679.1:n.1106G>T
|
|
|
|
ENST00000341012.12:c.1717G>T
|
ENSP00000343034.7:p.Val573Leu
|
|
|
ENST00000372220.5:c.748G>T
|
ENSP00000361294.5:p.Val250Leu
|
|
|
ENST00000372228.9:c.1945G>T
|
ENSP00000361302.3:p.Val649Leu
|
|
|
ENST00000402686.8:c.1879G>T
MANE Select
|
ENSP00000385797.4:p.Val627Leu
|
|
|
ENST00000676640.1:c.1879G>T
|
ENSP00000503281.1:p.Val627Leu
|
|
|
ENST00000676803.1:c.940G>T
|
ENSP00000503093.1:p.Val314Leu
|
|
|
ENST00000676835.1:c.*1094G>T
|
ENSP00000502911.1:n.*1094G>T
|
|
|
ENST00000677029.1:c.1423G>T
|
ENSP00000502936.1:p.Val475Leu
|
|
|
ENST00000677099.1:c.*1589G>T
|
ENSP00000504553.1:n.*1589G>T
|
|
|
ENST00000677216.1:c.1528G>T
|
ENSP00000503772.1:p.Val510Leu
|
|
|
ENST00000677221.1:n.904G>T
|
|
|
|
ENST00000677295.1:c.*1203-102G>T
|
ENSP00000504346.1:n.*1203-102G>T
|
|
|
ENST00000677444.1:c.1824G>T
|
|
|
|
ENST00000677586.1:n.1246G>T
|
|
|
|
ENST00000677626.1:c.1528G>T
|
ENSP00000503552.1:p.Val510Leu
|
|
|
ENST00000677853.1:c.*887G>T
|
ENSP00000503488.1:n.*887G>T
|
|
|
ENST00000678202.1:n.1038G>T
|
|
|
|
ENST00000678264.1:c.*1256G>T
|
ENSP00000503157.1:n.*1256G>T
|
|
|
ENST00000678303.1:c.1789G>T
|
ENSP00000503696.1:p.Val597Leu
|
|
|
ENST00000678366.1:c.*2128G>T
|
ENSP00000504353.1:n.*2128G>T
|
|
|
ENST00000678546.1:c.*1824G>T
|
ENSP00000503062.1:n.*1824G>T
|
|
|
ENST00000678548.1:c.*2018G>T
|
ENSP00000503934.1:n.*2018G>T
|
|
|
ENST00000678626.1:n.1715G>T
|
|
|
|
ENST00000678739.1:c.*2147-102G>T
|
ENSP00000503806.1:n.*2147-102G>T
|
|
|
ENST00000678833.1:c.*1631G>T
|
ENSP00000503893.1:n.*1631G>T
|
|
|
ENST00000679023.1:c.1717G>T
|
ENSP00000503718.1:p.Val573Leu
|
|
|
ENST00000679076.1:c.1498G>T
|
|
|
|
ENST00000679111.1:c.*635G>T
|
ENSP00000504257.1:n.*635G>T
|
|
|
ENST00000679189.1:c.1528G>T
|
ENSP00000503356.1:p.Val510Leu
|
|
|
ENST00000341012.11:c.1717G>T
|
ENSP00000343034.7:p.Val573Leu
|
|
|
ENST00000372220.4:c.742G>T
|
ENSP00000361294.4:p.Val248Leu
|
|
|
ENST00000372228.7:c.1945G>T
|
ENSP00000361302.3:p.Val649Leu
|
|
|
ENST00000402686.7:c.1879G>T
|
ENSP00000385797.3:p.Val627Leu
|
|
|
ENST00000404875.6:c.1528G>T
|
ENSP00000384531.2:p.Val510Leu
|
|
|
ENST00000423007.5:c.1879G>T
|
ENSP00000404119.1:p.Val627Leu
|
|
|
ENST00000485278.5:n.2429G>T
|
|
|
|
ENST00000494883.1:n.422G>T
|
|
|
|
NM_001077365.1:c.1879G>T
|
NP_001070833.1:p.Val627Leu
|
|
|
NM_001077366.1:c.1717G>T
|
NP_001070834.1:p.Val573Leu
|
|
|
NM_001136113.1:c.1879G>T
|
NP_001129585.1:p.Val627Leu
|
|
|
NM_001136114.1:c.1528G>T
|
NP_001129586.1:p.Val510Leu
|
|
|
NM_007171.3:c.1945G>T
|
NP_009102.3:p.Val649Leu
|
|
|
XM_005272156.1:c.1945G>T
|
XP_005272213.1:p.Val649Leu
|
|
|
XM_005272158.1:c.1783G>T
|
XP_005272215.1:p.Val595Leu
|
|
|
XM_005272159.1:c.1594G>T
|
XP_005272216.1:p.Val532Leu
|
|
|
XM_005272162.1:c.748G>T
|
XP_005272219.1:p.Val250Leu
|
|
|
XM_006716932.1:c.1594G>T
|
XP_006716995.1:p.Val532Leu
|
|
|
XM_011518140.1:c.1798G>T
|
XP_011516442.1:p.Val600Leu
|
|
|
XM_011518141.1:c.1732G>T
|
XP_011516443.1:p.Val578Leu
|
|
|
XM_011518142.1:c.1636G>T
|
XP_011516444.1:p.Val546Leu
|
|
|
XM_011518143.1:c.1630G>T
|
XP_011516445.1:p.Val544Leu
|
|
|
XM_011518145.1:c.1489G>T
|
XP_011516447.1:p.Val497Leu
|
|
|
XM_011518147.1:c.817G>T
|
XP_011516449.1:p.Val273Leu
|
|
|
XR_929703.1:n.2121G>T
|
|
|
|
NM_001353193.1:c.1945G>T
|
NP_001340122.1:p.Val649Leu
|
|
|
NM_001353194.1:c.1717G>T
|
NP_001340123.1:p.Val573Leu
|
|
|
NM_001353195.1:c.1528G>T
|
NP_001340124.1:p.Val510Leu
|
|
|
NM_001353196.1:c.1789G>T
|
NP_001340125.1:p.Val597Leu
|
|
|
NM_001353197.1:c.1783G>T
|
NP_001340126.1:p.Val595Leu
|
|
|
NM_001353198.1:c.1783G>T
|
NP_001340127.1:p.Val595Leu
|
|
|
NM_001353199.1:c.1594G>T
|
NP_001340128.1:p.Val532Leu
|
|
|
NM_001353200.1:c.1423G>T
|
NP_001340129.1:p.Val475Leu
|
|
|
NR_148391.1:n.1929G>T
|
|
|
|
NR_148392.1:n.2147G>T
|
|
|
|
NR_148393.1:n.2068G>T
|
|
|
|
NR_148394.1:n.1822G>T
|
|
|
|
NR_148395.1:n.2220G>T
|
|
|
|
NR_148396.1:n.1854G>T
|
|
|
|
NR_148397.1:n.1979G>T
|
|
|
|
NR_148398.1:n.1934G>T
|
|
|
|
NR_148399.1:n.2460G>T
|
|
|
|
NR_148400.1:n.2059G>T
|
|
|
|
XM_005272162.3:c.748G>T
|
XP_005272219.1:p.Val250Leu
|
|
|
XM_006716932.2:c.1594G>T
|
XP_006716995.1:p.Val532Leu
|
|
|
XM_011518140.2:c.1798G>T
|
XP_011516442.1:p.Val600Leu
|
|
|
XM_011518141.2:c.1732G>T
|
XP_011516443.1:p.Val578Leu
|
|
|
XM_011518142.2:c.1636G>T
|
XP_011516444.1:p.Val546Leu
|
|
|
XM_011518143.2:c.1630G>T
|
XP_011516445.1:p.Val544Leu
|
|
|
XM_011518145.2:c.1489G>T
|
XP_011516447.1:p.Val497Leu
|
|
|
XM_017014205.2:c.748G>T
|
XP_016869694.1:p.Val250Leu
|
|
|
XM_024447380.1:c.748G>T
|
XP_024303148.1:p.Val250Leu
|
|
|
XM_024447381.1:c.1054G>T
|
XP_024303149.1:p.Val352Leu
|
|
|
XM_024447382.1:c.748G>T
|
XP_024303150.1:p.Val250Leu
|
|
|
XR_001746160.2:n.2049G>T
|
|
|
|
XR_001746162.2:n.2254G>T
|
|
|
|
XR_001746164.1:n.1971G>T
|
|
|
|
XR_001746166.2:n.2266G>T
|
|
|
|
NM_001077365.2:c.1879G>T
MANE Select
|
NP_001070833.1:p.Val627Leu
|
|
|
NM_001077366.2:c.1717G>T
|
NP_001070834.1:p.Val573Leu
|
|
|
NM_001136113.2:c.1879G>T
|
NP_001129585.1:p.Val627Leu
|
|
|
NM_001136114.2:c.1528G>T
|
NP_001129586.1:p.Val510Leu
|
|
|
NM_001353193.2:c.1945G>T
|
NP_001340122.2:p.Val649Leu
|
|
|
NM_001353194.2:c.1717G>T
|
NP_001340123.1:p.Val573Leu
|
|
|
NM_001353195.2:c.1528G>T
|
NP_001340124.1:p.Val510Leu
|
|
|
NM_001353196.2:c.1789G>T
|
NP_001340125.1:p.Val597Leu
|
|
|
NM_001353197.2:c.1783G>T
|
NP_001340126.2:p.Val595Leu
|
|
|
NM_001353198.2:c.1783G>T
|
NP_001340127.2:p.Val595Leu
|
|
|
NM_001353199.2:c.1594G>T
|
NP_001340128.2:p.Val532Leu
|
|
|
NM_001353200.2:c.1423G>T
|
NP_001340129.1:p.Val475Leu
|
|
|
NM_001374689.1:c.1867G>T
|
NP_001361618.1:p.Val623Leu
|
|
|
NM_001374690.1:c.1660G>T
|
NP_001361619.1:p.Val554Leu
|
|
|
NM_001374691.1:c.1528G>T
|
NP_001361620.1:p.Val510Leu
|
|
|
NM_001374692.1:c.1528G>T
|
NP_001361621.1:p.Val510Leu
|
|
|
NM_001374693.1:c.1528G>T
|
NP_001361622.1:p.Val510Leu
|
|
|
NM_001374695.1:c.1489G>T
|
NP_001361624.1:p.Val497Leu
|
|
|
NM_007171.4:c.1945G>T
|
NP_009102.4:p.Val649Leu
|
|
|
NR_148391.2:n.1913G>T
|
|
|
|
NR_148392.2:n.2131G>T
|
|
|
|
NR_148393.2:n.2052G>T
|
|
|
|
NR_148394.2:n.1806G>T
|
|
|
|
NR_148395.2:n.2204G>T
|
|
|
|
NR_148396.2:n.1838G>T
|
|
|
|
NR_148397.2:n.1963G>T
|
|
|
|
NR_148398.2:n.1918G>T
|
|
|
|
NR_148399.2:n.2444G>T
|
|
|
|
NR_148400.2:n.2043G>T
|
|
|
