|
ENST00000412971.6:c.298_316dup
|
ENSP00000410263.2:p.Leu106HisfsTer?
|
|
|
ENST00000435155.2:c.715_733dup
|
ENSP00000403655.2:p.Leu245HisfsTer?
|
|
|
ENST00000467459.6:c.682_700dup
|
ENSP00000435889.2:p.Leu234HisfsTer?
|
|
|
ENST00000483127.2:c.700_718dup
|
ENSP00000436469.2:p.Leu240HisfsTer?
|
|
|
ENST00000485271.6:c.682_700dup
|
ENSP00000431264.2:p.Leu234HisfsTer?
|
|
|
ENST00000529892.6:c.724_742dup
|
ENSP00000432528.2:p.Leu248HisfsTer?
|
|
|
ENST00000533178.6:c.*11_*29dup
|
ENSP00000436430.2:n.*11_*29dup
|
|
|
ENST00000672314.2:c.682_700dup
|
ENSP00000500828.2:p.Leu234HisfsTer?
|
|
|
ENST00000674679.2:c.*594_*612dup
|
ENSP00000501623.2:n.*594_*612dup
|
|
|
ENST00000710952.2:c.766_784dup
MANE Plus Clinical
|
ENSP00000518552.2:p.Leu262HisfsTer?
|
|
|
ENST00000672818.3:c.757_775dup
|
ENSP00000500891.1:p.Leu259HisfsTer?
|
|
|
ENST00000450313.6:c.*11_*29dup
|
ENSP00000408176.2:n.*11_*29dup
|
|
|
ENST00000456914.7:c.682_700dup
MANE Select
|
ENSP00000407590.2:p.Leu234HisfsTer?
|
|
|
ENST00000461495.6:c.*421_*439dup
|
ENSP00000437166.1:n.*421_*439dup
|
|
|
ENST00000671898.1:c.1270_1288dup
|
ENSP00000499896.1:p.Leu430HisfsTer?
|
|
|
ENST00000672011.1:c.*11_*29dup
|
ENSP00000500418.1:n.*11_*29dup
|
|
|
ENST00000672314.1:c.682_700dup
|
ENSP00000500828.1:p.Leu234HisfsTer?
|
|
|
ENST00000672593.1:c.*655_*673dup
|
ENSP00000500455.1:n.*655_*673dup
|
|
|
ENST00000672764.1:c.*11_*29dup
|
ENSP00000500886.1:n.*11_*29dup
|
|
|
ENST00000672818.2:c.757_775dup
|
ENSP00000500891.1:p.Leu259HisfsTer?
|
|
|
ENST00000673134.1:c.*379_*397dup
|
ENSP00000500526.1:n.*379_*397dup
|
|
|
ENST00000674679.1:c.710_728dup
|
ENSP00000501623.1:n.710_728dup
|
|
|
ENST00000354383.10:c.685_703dup
|
ENSP00000346354.6:p.Leu235HisfsTer?
|
|
|
ENST00000355498.6:c.682_700dup
|
ENSP00000347685.2:p.Leu234HisfsTer?
|
|
|
ENST00000372098.7:c.757_775dup
|
ENSP00000361170.3:p.Leu259HisfsTer?
|
|
|
ENST00000372104.5:c.682_700dup
|
ENSP00000361176.1:p.Leu234HisfsTer?
|
|
|
ENST00000372110.7:c.727_745dup
|
ENSP00000361182.3:p.Leu249HisfsTer?
|
|
|
ENST00000372115.7:c.724_742dup
|
ENSP00000361187.3:p.Leu248HisfsTer?
|
|
|
ENST00000412971.5:c.298_316dup
|
ENSP00000410263.1:p.Leu106HisfsTer?
|
|
|
ENST00000435155.1:c.715_733dup
|
ENSP00000403655.1:p.Leu245HisfsTer?
|
|
|
ENST00000448481.5:c.715_733dup
|
ENSP00000409718.1:p.Leu245HisfsTer?
|
|
|
ENST00000450313.5:c.766_784dup
|
ENSP00000408176.1:p.Leu262HisfsTer?
|
|
|
ENST00000456914.6:c.682_700dup
|
ENSP00000407590.2:p.Leu234HisfsTer?
|
|
|
ENST00000461495.5:c.*421_*439dup
|
ENSP00000437166.1:n.*421_*439dup
|
|
|
ENST00000462388.5:n.373_391dup
|
|
|
|
ENST00000467459.5:c.76_94dup
|
ENSP00000435889.1:p.Leu32HisfsTer?
|
|
|
ENST00000467940.5:c.*605_*623dup
|
ENSP00000436478.1:n.*605_*623dup
|
|
|
ENST00000470256.5:c.*11_*29dup
|
ENSP00000434985.1:n.*11_*29dup
|
|
|
ENST00000475516.5:c.*495_*513dup
|
ENSP00000433843.1:n.*495_*513dup
|
|
|
ENST00000478796.5:n.669_687dup
|
|
|
|
ENST00000481571.5:c.*495_*513dup
|
ENSP00000436597.1:n.*495_*513dup
|
|
|
ENST00000488731.6:c.187+350_187+368dup
|
ENSP00000432330.1:n.187+350_187+368dup
|
|
|
ENST00000528013.6:c.724_742dup
|
ENSP00000433130.2:p.Leu248HisfsTer?
|
|
|
ENST00000529984.5:c.187+350_187+368dup
|
ENSP00000437093.1:n.187+350_187+368dup
|
|
|
ENST00000531105.5:c.115+1978_115+1996dup
|
ENSP00000431292.1:n.115+1978_115+1996dup
|
|
|
ENST00000533178.5:c.311_329dup
|
ENSP00000436430.1:n.311_329dup
|
|
|
NM_001048171.1:c.724_742dup
|
NP_001041636.1:p.Leu248HisfsTer?
|
|
|
NM_001048172.1:c.685_703dup
|
NP_001041637.1:p.Leu235HisfsTer?
|
|
|
NM_001048173.1:c.682_700dup
|
NP_001041638.1:p.Leu234HisfsTer?
|
|
|
NM_001048174.1:c.682_700dup
|
NP_001041639.1:p.Leu234HisfsTer?
|
|
|
NM_001128425.1:c.766_784dup , LRG_220t1:c.766_784dup
|
NP_001121897.1:p.Leu262HisfsTer?
|
|
|
NM_001293190.1:c.727_745dup
|
NP_001280119.1:p.Leu249HisfsTer?
|
|
|
NM_001293191.1:c.715_733dup
|
NP_001280120.1:p.Leu245HisfsTer?
|
|
|
NM_001293192.1:c.406_424dup
|
NP_001280121.1:p.Leu142HisfsTer?
|
|
|
NM_001293195.1:c.682_700dup
|
NP_001280124.1:p.Leu234HisfsTer?
|
|
|
NM_001293196.1:c.406_424dup
|
NP_001280125.1:p.Leu142HisfsTer?
|
|
|
NM_012222.2:c.757_775dup
|
NP_036354.1:p.Leu259HisfsTer?
|
|
|
XM_011541497.1:c.742_760dup
|
XP_011539799.1:p.Leu254HisfsTer?
|
|
|
XM_011541498.1:c.724_742dup
|
XP_011539800.1:p.Leu248HisfsTer?
|
|
|
XM_011541499.1:c.724_742dup
|
XP_011539801.1:p.Leu248HisfsTer?
|
|
|
XM_011541500.1:c.724_742dup
|
XP_011539802.1:p.Leu248HisfsTer?
|
|
|
XM_011541501.1:c.724_742dup
|
XP_011539803.1:p.Leu248HisfsTer?
|
|
|
XM_011541502.1:c.724_742dup
|
XP_011539804.1:p.Leu248HisfsTer?
|
|
|
XM_011541503.1:c.724_742dup
|
XP_011539805.1:p.Leu248HisfsTer?
|
|
|
XM_011541504.1:c.715_733dup
|
XP_011539806.1:p.Leu245HisfsTer?
|
|
|
XM_011541505.1:c.304_322dup
|
XP_011539807.1:p.Leu108HisfsTer?
|
|
|
XM_011541506.1:c.304_322dup
|
XP_011539808.1:p.Leu108HisfsTer?
|
|
|
XM_011541507.1:c.295_313dup
|
XP_011539809.1:p.Leu105HisfsTer?
|
|
|
XM_011541508.1:c.310_328dup
|
XP_011539810.1:p.Leu110HisfsTer?
|
|
|
XR_946658.1:n.813_831dup
|
|
|
|
NM_001350650.1:c.337_355dup
|
NP_001337579.1:p.Leu119HisfsTer?
|
|
|
NM_001350651.1:c.337_355dup
|
NP_001337580.1:p.Leu119HisfsTer?
|
|
|
NR_146882.1:n.940_958dup
|
|
|
|
NR_146883.1:n.754_772dup
|
|
|
|
XM_011541497.3:c.742_760dup
|
XP_011539799.1:p.Leu254HisfsTer?
|
|
|
XM_011541500.3:c.724_742dup
|
XP_011539802.1:p.Leu248HisfsTer?
|
|
|
XM_011541501.2:c.724_742dup
|
XP_011539803.1:p.Leu248HisfsTer?
|
|
|
XM_011541502.2:c.724_742dup
|
XP_011539804.1:p.Leu248HisfsTer?
|
|
|
XM_011541503.2:c.724_742dup
|
XP_011539805.1:p.Leu248HisfsTer?
|
|
|
XM_011541504.2:c.715_733dup
|
XP_011539806.1:p.Leu245HisfsTer?
|
|
|
XM_011541505.2:c.304_322dup
|
XP_011539807.1:p.Leu108HisfsTer?
|
|
|
XM_011541506.2:c.304_322dup
|
XP_011539808.1:p.Leu108HisfsTer?
|
|
|
XM_017001331.1:c.724_742dup
|
XP_016856820.1:p.Leu248HisfsTer?
|
|
|
XM_017001332.1:c.724_742dup
|
XP_016856821.1:p.Leu248HisfsTer?
|
|
|
XM_017001333.1:c.724_742dup
|
XP_016856822.1:p.Leu248HisfsTer?
|
|
|
XM_017001334.1:c.685_703dup
|
XP_016856823.1:p.Leu235HisfsTer?
|
|
|
XM_017001335.1:c.406_424dup
|
XP_016856824.1:p.Leu142HisfsTer?
|
|
|
XM_017001336.1:c.337_355dup
|
XP_016856825.1:p.Leu119HisfsTer?
|
|
|
XM_017001337.1:c.337_355dup
|
XP_016856826.1:p.Leu119HisfsTer?
|
|
|
XM_024447244.1:c.337_355dup
|
XP_024303012.1:p.Leu119HisfsTer?
|
|
|
XM_024447245.1:c.337_355dup
|
XP_024303013.1:p.Leu119HisfsTer?
|
|
|
XM_024447248.1:c.295_313dup
|
XP_024303016.1:p.Leu105HisfsTer?
|
|
|
XM_024447249.1:c.166_184dup
|
XP_024303017.1:p.Leu62HisfsTer?
|
|
|
XM_024447250.1:c.166_184dup
|
XP_024303018.1:p.Leu62HisfsTer?
|
|
|
XM_024447251.1:c.166_184dup
|
XP_024303019.1:p.Leu62HisfsTer?
|
|
|
XR_001737190.1:n.727_745dup
|
|
|
|
XR_001737192.1:n.539_557dup
|
|
|
|
XR_002956643.1:n.719_737dup
|
|
|
|
XR_002956644.1:n.1254_1272dup
|
|
|
|
XR_946658.2:n.827_845dup
|
|
|
|
NM_001048171.2:c.682_700dup
|
NP_001041636.2:p.Leu234HisfsTer?
|
|
|
NM_001128425.2:c.766_784dup
MANE Plus Clinical
|
NP_001121897.1:p.Leu262HisfsTer?
|
|
|
NM_001048172.2:c.685_703dup
|
NP_001041637.1:p.Leu235HisfsTer?
|
|
|
NM_001048173.2:c.682_700dup
|
NP_001041638.1:p.Leu234HisfsTer?
|
|
|
NM_001048174.2:c.682_700dup
MANE Select
|
NP_001041639.1:p.Leu234HisfsTer?
|
|
|
NM_001293190.2:c.727_745dup
|
NP_001280119.1:p.Leu249HisfsTer?
|
|
|
NM_001293191.2:c.715_733dup
|
NP_001280120.1:p.Leu245HisfsTer?
|
|
|
NM_001293192.2:c.406_424dup
|
NP_001280121.1:p.Leu142HisfsTer?
|
|
|
NM_001293195.2:c.682_700dup
|
NP_001280124.1:p.Leu234HisfsTer?
|
|
|
NM_001293196.2:c.406_424dup
|
NP_001280125.1:p.Leu142HisfsTer?
|
|
|
NM_001350650.2:c.337_355dup
|
NP_001337579.1:p.Leu119HisfsTer?
|
|
|
NM_001350651.2:c.337_355dup
|
NP_001337580.1:p.Leu119HisfsTer?
|
|
|
NM_012222.3:c.757_775dup
|
NP_036354.1:p.Leu259HisfsTer?
|
|
|
NR_146882.2:n.910_928dup
|
|
|
|
NR_146883.2:n.759_777dup
|
|
|
