|
ENST00000341012.13:c.1769_1772dup
|
ENSP00000343034.7:p.Leu594ArgfsTer?
|
|
|
ENST00000404875.7:n.2471_2474dup
|
|
|
|
ENST00000423007.6:c.1988_1991dup
|
ENSP00000404119.2:p.Leu667ArgfsTer?
|
|
|
ENST00000677295.2:c.*2275_*2278dup
|
ENSP00000504346.2:n.*2275_*2278dup
|
|
|
ENST00000678264.2:c.*2114_*2117dup
|
ENSP00000503157.2:n.*2114_*2117dup
|
|
|
ENST00000682070.1:n.2291-50_2291-47dup
|
|
|
|
ENST00000682813.1:n.2335_2338dup
|
|
|
|
ENST00000683392.1:n.4573-50_4573-47dup
|
|
|
|
ENST00000683712.1:n.2336_2339dup
|
|
|
|
ENST00000683900.1:n.3831_3834dup
|
|
|
|
ENST00000684062.1:n.2597_2600dup
|
|
|
|
ENST00000684579.1:n.3777_3780dup
|
|
|
|
ENST00000684679.1:n.1158_1161dup
|
|
|
|
ENST00000341012.12:c.1769_1772dup
|
ENSP00000343034.7:p.Leu594ArgfsTer?
|
|
|
ENST00000372220.5:c.800_803dup
|
ENSP00000361294.5:p.Leu271ArgfsTer?
|
|
|
ENST00000372228.9:c.1997_2000dup
|
ENSP00000361302.3:p.Leu670ArgfsTer?
|
|
|
ENST00000402686.8:c.1931_1934dup
MANE Select
|
ENSP00000385797.4:p.Leu648ArgfsTer?
|
|
|
ENST00000676640.1:c.1931_1934dup
|
ENSP00000503281.1:p.Leu648ArgfsTer?
|
|
|
ENST00000676803.1:c.992_995dup
|
ENSP00000503093.1:p.Leu335ArgfsTer?
|
|
|
ENST00000676835.1:c.*1146_*1149dup
|
ENSP00000502911.1:n.*1146_*1149dup
|
|
|
ENST00000677029.1:c.1475_1478dup
|
ENSP00000502936.1:p.Leu496ArgfsTer?
|
|
|
ENST00000677099.1:c.*1641_*1644dup
|
ENSP00000504553.1:n.*1641_*1644dup
|
|
|
ENST00000677216.1:c.1580_1583dup
|
ENSP00000503772.1:p.Leu531ArgfsTer?
|
|
|
ENST00000677221.1:n.956_959dup
|
|
|
|
ENST00000677295.1:c.*1203-50_*1203-47dup
|
ENSP00000504346.1:n.*1203-50_*1203-47dup
|
|
|
ENST00000677444.1:c.1876_1879dup
|
|
|
|
ENST00000677586.1:n.1298_1301dup
|
|
|
|
ENST00000677626.1:c.1580_1583dup
|
ENSP00000503552.1:p.Leu531ArgfsTer?
|
|
|
ENST00000677853.1:c.*939_*942dup
|
ENSP00000503488.1:n.*939_*942dup
|
|
|
ENST00000678202.1:n.1090_1093dup
|
|
|
|
ENST00000678264.1:c.*1308_*1311dup
|
ENSP00000503157.1:n.*1308_*1311dup
|
|
|
ENST00000678303.1:c.1841_1844dup
|
ENSP00000503696.1:p.Leu618ArgfsTer?
|
|
|
ENST00000678366.1:c.*2180_*2183dup
|
ENSP00000504353.1:n.*2180_*2183dup
|
|
|
ENST00000678546.1:c.*1876_*1879dup
|
ENSP00000503062.1:n.*1876_*1879dup
|
|
|
ENST00000678548.1:c.*2070_*2073dup
|
ENSP00000503934.1:n.*2070_*2073dup
|
|
|
ENST00000678626.1:n.1767_1770dup
|
|
|
|
ENST00000678739.1:c.*2147-50_*2147-47dup
|
ENSP00000503806.1:n.*2147-50_*2147-47dup
|
|
|
ENST00000678833.1:c.*1683_*1686dup
|
ENSP00000503893.1:n.*1683_*1686dup
|
|
|
ENST00000679023.1:c.1769_1772dup
|
ENSP00000503718.1:p.Leu594ArgfsTer?
|
|
|
ENST00000679076.1:c.1550_1553dup
|
|
|
|
ENST00000679111.1:c.*687_*690dup
|
ENSP00000504257.1:n.*687_*690dup
|
|
|
ENST00000679189.1:c.1580_1583dup
|
ENSP00000503356.1:p.Leu531ArgfsTer?
|
|
|
ENST00000341012.11:c.1769_1772dup
|
ENSP00000343034.7:p.Leu594ArgfsTer?
|
|
|
ENST00000372220.4:c.794_797dup
|
ENSP00000361294.4:p.Leu269ArgfsTer?
|
|
|
ENST00000372228.7:c.1997_2000dup
|
ENSP00000361302.3:p.Leu670ArgfsTer?
|
|
|
ENST00000402686.7:c.1931_1934dup
|
ENSP00000385797.3:p.Leu648ArgfsTer?
|
|
|
ENST00000404875.6:c.1580_1583dup
|
ENSP00000384531.2:p.Leu531ArgfsTer?
|
|
|
ENST00000423007.5:c.1931_1934dup
|
ENSP00000404119.1:p.Leu648ArgfsTer?
|
|
|
ENST00000485278.5:n.2481_2484dup
|
|
|
|
ENST00000494883.1:n.474_477dup
|
|
|
|
NM_001077365.1:c.1931_1934dup
|
NP_001070833.1:p.Leu648ArgfsTer?
|
|
|
NM_001077366.1:c.1769_1772dup
|
NP_001070834.1:p.Leu594ArgfsTer?
|
|
|
NM_001136113.1:c.1931_1934dup
|
NP_001129585.1:p.Leu648ArgfsTer?
|
|
|
NM_001136114.1:c.1580_1583dup
|
NP_001129586.1:p.Leu531ArgfsTer?
|
|
|
NM_007171.3:c.1997_2000dup
|
NP_009102.3:p.Leu670ArgfsTer?
|
|
|
XM_005272156.1:c.1997_2000dup
|
XP_005272213.1:p.Leu670ArgfsTer?
|
|
|
XM_005272158.1:c.1835_1838dup
|
XP_005272215.1:p.Leu616ArgfsTer?
|
|
|
XM_005272159.1:c.1646_1649dup
|
XP_005272216.1:p.Leu553ArgfsTer?
|
|
|
XM_005272162.1:c.800_803dup
|
XP_005272219.1:p.Leu271ArgfsTer?
|
|
|
XM_006716932.1:c.1646_1649dup
|
XP_006716995.1:p.Leu553ArgfsTer?
|
|
|
XM_011518140.1:c.1850_1853dup
|
XP_011516442.1:p.Leu621ArgfsTer?
|
|
|
XM_011518141.1:c.1784_1787dup
|
XP_011516443.1:p.Leu599ArgfsTer?
|
|
|
XM_011518142.1:c.1688_1691dup
|
XP_011516444.1:p.Leu567ArgfsTer?
|
|
|
XM_011518143.1:c.1682_1685dup
|
XP_011516445.1:p.Leu565ArgfsTer?
|
|
|
XM_011518145.1:c.1541_1544dup
|
XP_011516447.1:p.Leu518ArgfsTer?
|
|
|
XM_011518147.1:c.869_872dup
|
XP_011516449.1:p.Leu294ArgfsTer?
|
|
|
XR_929703.1:n.2173_2176dup
|
|
|
|
NM_001353193.1:c.1997_2000dup
|
NP_001340122.1:p.Leu670ArgfsTer?
|
|
|
NM_001353194.1:c.1769_1772dup
|
NP_001340123.1:p.Leu594ArgfsTer?
|
|
|
NM_001353195.1:c.1580_1583dup
|
NP_001340124.1:p.Leu531ArgfsTer?
|
|
|
NM_001353196.1:c.1841_1844dup
|
NP_001340125.1:p.Leu618ArgfsTer?
|
|
|
NM_001353197.1:c.1835_1838dup
|
NP_001340126.1:p.Leu616ArgfsTer?
|
|
|
NM_001353198.1:c.1835_1838dup
|
NP_001340127.1:p.Leu616ArgfsTer?
|
|
|
NM_001353199.1:c.1646_1649dup
|
NP_001340128.1:p.Leu553ArgfsTer?
|
|
|
NM_001353200.1:c.1475_1478dup
|
NP_001340129.1:p.Leu496ArgfsTer?
|
|
|
NR_148391.1:n.1981_1984dup
|
|
|
|
NR_148392.1:n.2199_2202dup
|
|
|
|
NR_148393.1:n.2120_2123dup
|
|
|
|
NR_148394.1:n.1874_1877dup
|
|
|
|
NR_148395.1:n.2272_2275dup
|
|
|
|
NR_148396.1:n.1906_1909dup
|
|
|
|
NR_148397.1:n.2031_2034dup
|
|
|
|
NR_148398.1:n.1986_1989dup
|
|
|
|
NR_148399.1:n.2512_2515dup
|
|
|
|
NR_148400.1:n.2111_2114dup
|
|
|
|
XM_005272162.3:c.800_803dup
|
XP_005272219.1:p.Leu271ArgfsTer?
|
|
|
XM_006716932.2:c.1646_1649dup
|
XP_006716995.1:p.Leu553ArgfsTer?
|
|
|
XM_011518140.2:c.1850_1853dup
|
XP_011516442.1:p.Leu621ArgfsTer?
|
|
|
XM_011518141.2:c.1784_1787dup
|
XP_011516443.1:p.Leu599ArgfsTer?
|
|
|
XM_011518142.2:c.1688_1691dup
|
XP_011516444.1:p.Leu567ArgfsTer?
|
|
|
XM_011518143.2:c.1682_1685dup
|
XP_011516445.1:p.Leu565ArgfsTer?
|
|
|
XM_011518145.2:c.1541_1544dup
|
XP_011516447.1:p.Leu518ArgfsTer?
|
|
|
XM_017014205.2:c.800_803dup
|
XP_016869694.1:p.Leu271ArgfsTer?
|
|
|
XM_024447380.1:c.800_803dup
|
XP_024303148.1:p.Leu271ArgfsTer?
|
|
|
XM_024447381.1:c.1106_1109dup
|
XP_024303149.1:p.Leu373ArgfsTer?
|
|
|
XM_024447382.1:c.800_803dup
|
XP_024303150.1:p.Leu271ArgfsTer?
|
|
|
XR_001746160.2:n.2101_2104dup
|
|
|
|
XR_001746162.2:n.2306_2309dup
|
|
|
|
XR_001746164.1:n.2023_2026dup
|
|
|
|
XR_001746166.2:n.2318_2321dup
|
|
|
|
NM_001077365.2:c.1931_1934dup
MANE Select
|
NP_001070833.1:p.Leu648ArgfsTer?
|
|
|
NM_001077366.2:c.1769_1772dup
|
NP_001070834.1:p.Leu594ArgfsTer?
|
|
|
NM_001136113.2:c.1931_1934dup
|
NP_001129585.1:p.Leu648ArgfsTer?
|
|
|
NM_001136114.2:c.1580_1583dup
|
NP_001129586.1:p.Leu531ArgfsTer?
|
|
|
NM_001353193.2:c.1997_2000dup
|
NP_001340122.2:p.Leu670ArgfsTer?
|
|
|
NM_001353194.2:c.1769_1772dup
|
NP_001340123.1:p.Leu594ArgfsTer?
|
|
|
NM_001353195.2:c.1580_1583dup
|
NP_001340124.1:p.Leu531ArgfsTer?
|
|
|
NM_001353196.2:c.1841_1844dup
|
NP_001340125.1:p.Leu618ArgfsTer?
|
|
|
NM_001353197.2:c.1835_1838dup
|
NP_001340126.2:p.Leu616ArgfsTer?
|
|
|
NM_001353198.2:c.1835_1838dup
|
NP_001340127.2:p.Leu616ArgfsTer?
|
|
|
NM_001353199.2:c.1646_1649dup
|
NP_001340128.2:p.Leu553ArgfsTer?
|
|
|
NM_001353200.2:c.1475_1478dup
|
NP_001340129.1:p.Leu496ArgfsTer?
|
|
|
NM_001374689.1:c.1919_1922dup
|
NP_001361618.1:p.Leu644ArgfsTer?
|
|
|
NM_001374690.1:c.1712_1715dup
|
NP_001361619.1:p.Leu575ArgfsTer?
|
|
|
NM_001374691.1:c.1580_1583dup
|
NP_001361620.1:p.Leu531ArgfsTer?
|
|
|
NM_001374692.1:c.1580_1583dup
|
NP_001361621.1:p.Leu531ArgfsTer?
|
|
|
NM_001374693.1:c.1580_1583dup
|
NP_001361622.1:p.Leu531ArgfsTer?
|
|
|
NM_001374695.1:c.1541_1544dup
|
NP_001361624.1:p.Leu518ArgfsTer?
|
|
|
NM_007171.4:c.1997_2000dup
|
NP_009102.4:p.Leu670ArgfsTer?
|
|
|
NR_148391.2:n.1965_1968dup
|
|
|
|
NR_148392.2:n.2183_2186dup
|
|
|
|
NR_148393.2:n.2104_2107dup
|
|
|
|
NR_148394.2:n.1858_1861dup
|
|
|
|
NR_148395.2:n.2256_2259dup
|
|
|
|
NR_148396.2:n.1890_1893dup
|
|
|
|
NR_148397.2:n.2015_2018dup
|
|
|
|
NR_148398.2:n.1970_1973dup
|
|
|
|
NR_148399.2:n.2496_2499dup
|
|
|
|
NR_148400.2:n.2095_2098dup
|
|
|
