|
ENST00000341012.13:c.1643A>T
|
ENSP00000343034.7:p.Asn548Ile
|
|
|
ENST00000404875.7:n.2345A>T
|
|
|
|
ENST00000423007.6:c.1862A>T
|
ENSP00000404119.2:p.Asn621Ile
|
|
|
ENST00000677295.2:c.*2149A>T
|
ENSP00000504346.2:n.*2149A>T
|
|
|
ENST00000678264.2:c.*1988A>T
|
ENSP00000503157.2:n.*1988A>T
|
|
|
ENST00000682070.1:n.2270A>T
|
|
|
|
ENST00000682813.1:n.2209A>T
|
|
|
|
ENST00000683392.1:n.4552A>T
|
|
|
|
ENST00000683712.1:n.2210A>T
|
|
|
|
ENST00000683900.1:n.3705A>T
|
|
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ENST00000684062.1:n.2471A>T
|
|
|
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ENST00000684579.1:n.3651A>T
|
|
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|
ENST00000684679.1:n.1032A>T
|
|
|
|
ENST00000341012.12:c.1643A>T
|
ENSP00000343034.7:p.Asn548Ile
|
|
|
ENST00000372220.5:c.674A>T
|
ENSP00000361294.5:p.Asn225Ile
|
|
|
ENST00000372228.9:c.1871A>T
|
ENSP00000361302.3:p.Asn624Ile
|
|
|
ENST00000402686.8:c.1805A>T
MANE Select
|
ENSP00000385797.4:p.Asn602Ile
|
|
|
ENST00000676640.1:c.1805A>T
|
ENSP00000503281.1:p.Asn602Ile
|
|
|
ENST00000676803.1:c.866A>T
|
ENSP00000503093.1:p.Asn289Ile
|
|
|
ENST00000676835.1:c.*1020A>T
|
ENSP00000502911.1:n.*1020A>T
|
|
|
ENST00000677029.1:c.1349A>T
|
ENSP00000502936.1:p.Asn450Ile
|
|
|
ENST00000677099.1:c.*1515A>T
|
ENSP00000504553.1:n.*1515A>T
|
|
|
ENST00000677216.1:c.1454A>T
|
ENSP00000503772.1:p.Asn485Ile
|
|
|
ENST00000677221.1:n.830A>T
|
|
|
|
ENST00000677295.1:c.*1182A>T
|
ENSP00000504346.1:n.*1182A>T
|
|
|
ENST00000677444.1:c.1750A>T
|
|
|
|
ENST00000677586.1:n.1172A>T
|
|
|
|
ENST00000677626.1:c.1454A>T
|
ENSP00000503552.1:p.Asn485Ile
|
|
|
ENST00000677853.1:c.*813A>T
|
ENSP00000503488.1:n.*813A>T
|
|
|
ENST00000678202.1:n.964A>T
|
|
|
|
ENST00000678264.1:c.*1182A>T
|
ENSP00000503157.1:n.*1182A>T
|
|
|
ENST00000678303.1:c.1715A>T
|
ENSP00000503696.1:p.Asn572Ile
|
|
|
ENST00000678366.1:c.*2054A>T
|
ENSP00000504353.1:n.*2054A>T
|
|
|
ENST00000678546.1:c.*1750A>T
|
ENSP00000503062.1:n.*1750A>T
|
|
|
ENST00000678548.1:c.*1877A>T
|
ENSP00000503934.1:n.*1877A>T
|
|
|
ENST00000678626.1:n.1641A>T
|
|
|
|
ENST00000678739.1:c.*2126A>T
|
ENSP00000503806.1:n.*2126A>T
|
|
|
ENST00000678833.1:c.*1557A>T
|
ENSP00000503893.1:n.*1557A>T
|
|
|
ENST00000679023.1:c.1643A>T
|
ENSP00000503718.1:p.Asn548Ile
|
|
|
ENST00000679076.1:c.1424A>T
|
|
|
|
ENST00000679111.1:c.*561A>T
|
ENSP00000504257.1:n.*561A>T
|
|
|
ENST00000679189.1:c.1454A>T
|
ENSP00000503356.1:p.Asn485Ile
|
|
|
ENST00000341012.11:c.1643A>T
|
ENSP00000343034.7:p.Asn548Ile
|
|
|
ENST00000372220.4:c.668A>T
|
ENSP00000361294.4:p.Asn223Ile
|
|
|
ENST00000372228.7:c.1871A>T
|
ENSP00000361302.3:p.Asn624Ile
|
|
|
ENST00000402686.7:c.1805A>T
|
ENSP00000385797.3:p.Asn602Ile
|
|
|
ENST00000404875.6:c.1454A>T
|
ENSP00000384531.2:p.Asn485Ile
|
|
|
ENST00000423007.5:c.1805A>T
|
ENSP00000404119.1:p.Asn602Ile
|
|
|
ENST00000485278.5:n.2355A>T
|
|
|
|
ENST00000494883.1:n.348A>T
|
|
|
|
NM_001077365.1:c.1805A>T
|
NP_001070833.1:p.Asn602Ile
|
|
|
NM_001077366.1:c.1643A>T
|
NP_001070834.1:p.Asn548Ile
|
|
|
NM_001136113.1:c.1805A>T
|
NP_001129585.1:p.Asn602Ile
|
|
|
NM_001136114.1:c.1454A>T
|
NP_001129586.1:p.Asn485Ile
|
|
|
NM_007171.3:c.1871A>T
|
NP_009102.3:p.Asn624Ile
|
|
|
XM_005272156.1:c.1871A>T
|
XP_005272213.1:p.Asn624Ile
|
|
|
XM_005272158.1:c.1709A>T
|
XP_005272215.1:p.Asn570Ile
|
|
|
XM_005272159.1:c.1520A>T
|
XP_005272216.1:p.Asn507Ile
|
|
|
XM_005272162.1:c.674A>T
|
XP_005272219.1:p.Asn225Ile
|
|
|
XM_006716932.1:c.1520A>T
|
XP_006716995.1:p.Asn507Ile
|
|
|
XM_011518140.1:c.1724A>T
|
XP_011516442.1:p.Asn575Ile
|
|
|
XM_011518141.1:c.1658A>T
|
XP_011516443.1:p.Asn553Ile
|
|
|
XM_011518142.1:c.1562A>T
|
XP_011516444.1:p.Asn521Ile
|
|
|
XM_011518143.1:c.1556A>T
|
XP_011516445.1:p.Asn519Ile
|
|
|
XM_011518145.1:c.1415A>T
|
XP_011516447.1:p.Asn472Ile
|
|
|
XM_011518147.1:c.743A>T
|
XP_011516449.1:p.Asn248Ile
|
|
|
XR_929703.1:n.2047A>T
|
|
|
|
NM_001353193.1:c.1871A>T
|
NP_001340122.1:p.Asn624Ile
|
|
|
NM_001353194.1:c.1643A>T
|
NP_001340123.1:p.Asn548Ile
|
|
|
NM_001353195.1:c.1454A>T
|
NP_001340124.1:p.Asn485Ile
|
|
|
NM_001353196.1:c.1715A>T
|
NP_001340125.1:p.Asn572Ile
|
|
|
NM_001353197.1:c.1709A>T
|
NP_001340126.1:p.Asn570Ile
|
|
|
NM_001353198.1:c.1709A>T
|
NP_001340127.1:p.Asn570Ile
|
|
|
NM_001353199.1:c.1520A>T
|
NP_001340128.1:p.Asn507Ile
|
|
|
NM_001353200.1:c.1349A>T
|
NP_001340129.1:p.Asn450Ile
|
|
|
NR_148391.1:n.1855A>T
|
|
|
|
NR_148392.1:n.2073A>T
|
|
|
|
NR_148393.1:n.1994A>T
|
|
|
|
NR_148394.1:n.1748A>T
|
|
|
|
NR_148395.1:n.2146A>T
|
|
|
|
NR_148396.1:n.1780A>T
|
|
|
|
NR_148397.1:n.1905A>T
|
|
|
|
NR_148398.1:n.1860A>T
|
|
|
|
NR_148399.1:n.2386A>T
|
|
|
|
NR_148400.1:n.1985A>T
|
|
|
|
XM_005272162.3:c.674A>T
|
XP_005272219.1:p.Asn225Ile
|
|
|
XM_006716932.2:c.1520A>T
|
XP_006716995.1:p.Asn507Ile
|
|
|
XM_011518140.2:c.1724A>T
|
XP_011516442.1:p.Asn575Ile
|
|
|
XM_011518141.2:c.1658A>T
|
XP_011516443.1:p.Asn553Ile
|
|
|
XM_011518142.2:c.1562A>T
|
XP_011516444.1:p.Asn521Ile
|
|
|
XM_011518143.2:c.1556A>T
|
XP_011516445.1:p.Asn519Ile
|
|
|
XM_011518145.2:c.1415A>T
|
XP_011516447.1:p.Asn472Ile
|
|
|
XM_017014205.2:c.674A>T
|
XP_016869694.1:p.Asn225Ile
|
|
|
XM_024447380.1:c.674A>T
|
XP_024303148.1:p.Asn225Ile
|
|
|
XM_024447381.1:c.980A>T
|
XP_024303149.1:p.Asn327Ile
|
|
|
XM_024447382.1:c.674A>T
|
XP_024303150.1:p.Asn225Ile
|
|
|
XR_001746160.2:n.1975A>T
|
|
|
|
XR_001746162.2:n.2180A>T
|
|
|
|
XR_001746164.1:n.1897A>T
|
|
|
|
XR_001746166.2:n.2192A>T
|
|
|
|
NM_001077365.2:c.1805A>T
MANE Select
|
NP_001070833.1:p.Asn602Ile
|
|
|
NM_001077366.2:c.1643A>T
|
NP_001070834.1:p.Asn548Ile
|
|
|
NM_001136113.2:c.1805A>T
|
NP_001129585.1:p.Asn602Ile
|
|
|
NM_001136114.2:c.1454A>T
|
NP_001129586.1:p.Asn485Ile
|
|
|
NM_001353193.2:c.1871A>T
|
NP_001340122.2:p.Asn624Ile
|
|
|
NM_001353194.2:c.1643A>T
|
NP_001340123.1:p.Asn548Ile
|
|
|
NM_001353195.2:c.1454A>T
|
NP_001340124.1:p.Asn485Ile
|
|
|
NM_001353196.2:c.1715A>T
|
NP_001340125.1:p.Asn572Ile
|
|
|
NM_001353197.2:c.1709A>T
|
NP_001340126.2:p.Asn570Ile
|
|
|
NM_001353198.2:c.1709A>T
|
NP_001340127.2:p.Asn570Ile
|
|
|
NM_001353199.2:c.1520A>T
|
NP_001340128.2:p.Asn507Ile
|
|
|
NM_001353200.2:c.1349A>T
|
NP_001340129.1:p.Asn450Ile
|
|
|
NM_001374689.1:c.1793A>T
|
NP_001361618.1:p.Asn598Ile
|
|
|
NM_001374690.1:c.1586A>T
|
NP_001361619.1:p.Asn529Ile
|
|
|
NM_001374691.1:c.1454A>T
|
NP_001361620.1:p.Asn485Ile
|
|
|
NM_001374692.1:c.1454A>T
|
NP_001361621.1:p.Asn485Ile
|
|
|
NM_001374693.1:c.1454A>T
|
NP_001361622.1:p.Asn485Ile
|
|
|
NM_001374695.1:c.1415A>T
|
NP_001361624.1:p.Asn472Ile
|
|
|
NM_007171.4:c.1871A>T
|
NP_009102.4:p.Asn624Ile
|
|
|
NR_148391.2:n.1839A>T
|
|
|
|
NR_148392.2:n.2057A>T
|
|
|
|
NR_148393.2:n.1978A>T
|
|
|
|
NR_148394.2:n.1732A>T
|
|
|
|
NR_148395.2:n.2130A>T
|
|
|
|
NR_148396.2:n.1764A>T
|
|
|
|
NR_148397.2:n.1889A>T
|
|
|
|
NR_148398.2:n.1844A>T
|
|
|
|
NR_148399.2:n.2370A>T
|
|
|
|
NR_148400.2:n.1969A>T
|
|
|
