|
ENST00000509514.6:c.2110_2111del
|
ENSP00000426272.2:p.Gln704AspfsTer4
|
|
|
ENST00000518349.6:c.1423_1424del
|
ENSP00000507185.1:p.Gln475AspfsTer4
|
|
|
ENST00000682445.1:c.*2060_*2061del
|
ENSP00000508061.1:n.*2060_*2061del
|
|
|
ENST00000682531.1:n.4071_4072del
|
|
|
|
ENST00000682626.1:c.*1685_*1686del
|
ENSP00000507857.1:n.*1685_*1686del
|
|
|
ENST00000682996.1:c.2107_2108del
|
ENSP00000507792.1:p.Gln703AspfsTer4
|
|
|
ENST00000683265.1:n.3965_3966del
|
|
|
|
ENST00000683335.1:n.3581_3582del
|
|
|
|
ENST00000683371.1:c.*2309_*2310del
|
ENSP00000508376.1:n.*2309_*2310del
|
|
|
ENST00000683372.1:n.4189_4190del
|
|
|
|
ENST00000683390.1:n.8887_8888del
|
|
|
|
ENST00000683476.1:n.1021_1022del
|
|
|
|
ENST00000683549.1:n.3793_3794del
|
|
|
|
ENST00000683936.1:c.*3757_*3758del
|
ENSP00000507721.1:n.*3757_*3758del
|
|
|
ENST00000683974.1:n.3908_3909del
|
|
|
|
ENST00000683996.1:c.*1389_*1390del
|
ENSP00000507060.1:n.*1389_*1390del
|
|
|
ENST00000684131.1:n.3711_3712del
|
|
|
|
ENST00000684160.1:c.*1869_*1870del
|
ENSP00000507821.1:n.*1869_*1870del
|
|
|
ENST00000684214.1:c.*174_*175del
|
ENSP00000508071.1:n.*174_*175del
|
|
|
ENST00000414835.7:c.2254_2255del
|
ENSP00000411960.3:p.Gln752AspfsTer4
|
|
|
ENST00000510025.7:c.2179_2180del
MANE Select
|
ENSP00000424940.3:p.Gln727AspfsTer4
|
|
|
ENST00000643250.1:c.*2051_*2052del
|
ENSP00000494737.1:n.*2051_*2052del
|
|
|
ENST00000643897.1:c.113+5412_113+5413del
|
|
|
|
ENST00000644146.1:c.*3450_*3451del
|
ENSP00000494808.1:n.*3450_*3451del
|
|
|
ENST00000645099.1:c.1738_1739del
|
ENSP00000496091.1:p.Gln580AspfsTer4
|
|
|
ENST00000645702.1:c.*1582_*1583del
|
ENSP00000496432.1:n.*1582_*1583del
|
|
|
ENST00000645832.1:c.*2064_*2065del
|
ENSP00000494316.1:n.*2064_*2065del
|
|
|
ENST00000646058.1:c.2121+5412_2121+5413del
|
ENSP00000493579.1:n.2121+5412_2121+5413del
|
|
|
ENST00000646355.1:c.*2185_*2186del
|
ENSP00000493801.1:n.*2185_*2186del
|
|
|
ENST00000646554.1:c.*2157_*2158del
|
ENSP00000494542.1:n.*2157_*2158del
|
|
|
ENST00000647335.1:c.*2146_*2147del
|
ENSP00000495180.1:n.*2146_*2147del
|
|
|
ENST00000647342.1:c.*2110_*2111del
|
ENSP00000494992.1:n.*2110_*2111del
|
|
|
ENST00000256216.10:c.2179_2180del
|
ENSP00000256216.6:p.Gln727AspfsTer4
|
|
|
ENST00000414835.6:c.1759_1760del
|
ENSP00000411960.2:p.Gln587AspfsTer4
|
|
|
ENST00000442060.7:c.*734_*735del
|
ENSP00000390208.3:n.*734_*735del
|
|
|
ENST00000503310.1:n.839_840del
|
|
|
|
ENST00000504811.5:c.2254_2255del
|
ENSP00000420914.1:p.Gln752AspfsTer4
|
|
|
ENST00000509514.5:c.1393_1394del
|
ENSP00000426272.1:p.Gln465AspfsTer4
|
|
|
ENST00000509606.1:n.474_475del
|
|
|
|
ENST00000509951.5:n.367_368del
|
|
|
|
ENST00000510025.5:c.2107_2108del
|
ENSP00000424940.1:p.Gln703AspfsTer4
|
|
|
ENST00000513628.5:c.1768_1769del
|
ENSP00000425993.1:p.Gln590AspfsTer4
|
|
|
ENST00000515235.6:n.3874+5412_3874+5413del
|
|
|
|
ENST00000515320.5:c.2125_2126del
|
ENSP00000424613.1:p.Gln709AspfsTer4
|
|
|
ENST00000522415.5:n.846_847del
|
|
|
|
NM_000414.3:c.2179_2180del
|
NP_000405.1:p.Gln727AspfsTer4
|
|
|
NM_001199291.2:c.2254_2255del
|
NP_001186220.1:p.Gln752AspfsTer4
|
|
|
NM_001199292.1:c.2125_2126del
|
NP_001186221.1:p.Gln709AspfsTer4
|
|
|
NM_001292027.1:c.2107_2108del
|
NP_001278956.1:p.Gln703AspfsTer4
|
|
|
NM_001292028.1:c.1759_1760del
|
NP_001278957.1:p.Gln587AspfsTer4
|
|
|
NM_000414.4:c.2179_2180del
MANE Select
|
NP_000405.1:p.Gln727AspfsTer4
|
|
|
NM_001199291.3:c.2254_2255del
|
NP_001186220.1:p.Gln752AspfsTer4
|
|
|
NM_001199292.2:c.2125_2126del
|
NP_001186221.1:p.Gln709AspfsTer4
|
|
|
NM_001292027.2:c.2107_2108del
|
NP_001278956.1:p.Gln703AspfsTer4
|
|
|
NM_001292028.2:c.1759_1760del
|
NP_001278957.1:p.Gln587AspfsTer4
|
|
|
NM_001374497.1:c.2170_2171del
|
NP_001361426.1:p.Gln724AspfsTer4
|
|
|
NM_001374498.1:c.2107_2108del
|
NP_001361427.1:p.Gln703AspfsTer4
|
|
|
NM_001374499.1:c.1852_1853del
|
NP_001361428.1:p.Gln618AspfsTer4
|
|
|
NM_001374500.1:c.1738_1739del
|
NP_001361429.1:p.Gln580AspfsTer4
|
|
|
NM_001374501.1:c.1768_1769del
|
NP_001361430.1:p.Gln590AspfsTer4
|
|
|
NM_001374502.1:c.1768_1769del
|
NP_001361431.1:p.Gln590AspfsTer4
|
|
|
NM_001374503.1:c.1768_1769del
|
NP_001361432.1:p.Gln590AspfsTer4
|
|
|
NR_164653.1:n.2276_2277del
|
|
|
|
NR_164654.1:n.2544_2545del
|
|
|
