|
ENST00000419884.6:c.177_180del
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|
|
ENST00000472420.6:n.825_828del
|
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|
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ENST00000483489.2:n.177_180del
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|
|
|
ENST00000681993.1:n.1298_1301del
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|
|
|
ENST00000682303.1:c.*3532_*3535del
|
ENSP00000508325.1:n.*3532_*3535del
|
|
|
ENST00000682308.1:c.3746_3749del
|
ENSP00000507056.1:p.Ala1249ValfsTer30
|
|
|
ENST00000682434.1:n.1297_1300del
|
|
|
|
ENST00000682480.1:c.3764_3767del
|
ENSP00000508344.1:p.Ala1255ValfsTer?
|
|
|
ENST00000682546.1:c.3743_3746del
|
ENSP00000508188.1:p.Ala1248ValfsTer?
|
|
|
ENST00000682585.1:c.3746_3749del
|
ENSP00000506885.1:p.Ala1249ValfsTer?
|
|
|
ENST00000682595.1:n.4330_4333del
|
|
|
|
ENST00000682607.1:c.2164_2167del
|
|
|
|
ENST00000682612.1:c.598_601del
|
|
|
|
ENST00000682779.1:c.3737_3740del
|
ENSP00000507947.1:p.Ala1246ValfsTer?
|
|
|
ENST00000682845.1:n.2848_2851del
|
|
|
|
ENST00000682885.1:c.3701_3704del
|
ENSP00000508036.1:p.Ala1234ValfsTer?
|
|
|
ENST00000682933.1:n.3820_3823del
|
|
|
|
ENST00000683002.1:c.598_601del
|
|
|
|
ENST00000683072.1:n.4330_4333del
|
|
|
|
ENST00000683080.1:n.1365_1368del
|
|
|
|
ENST00000683125.1:c.3854_3857del
|
ENSP00000507939.1:p.Ala1285ValfsTer?
|
|
|
ENST00000683213.1:c.3749_3752del
|
ENSP00000507751.1:p.Ala1250ValfsTer?
|
|
|
ENST00000683220.1:c.3776_3779del
|
ENSP00000507151.1:p.Ala1259ValfsTer?
|
|
|
ENST00000683329.1:n.4549_4552del
|
|
|
|
ENST00000683346.1:c.*3621_*3624del
|
ENSP00000507458.1:n.*3621_*3624del
|
|
|
ENST00000683409.1:n.2353_2356del
|
|
|
|
ENST00000683459.1:n.4333_4336del
|
|
|
|
ENST00000683528.1:c.674_677del
|
|
|
|
ENST00000683590.1:c.3494_3497del
|
ENSP00000506820.1:p.Ala1165ValfsTer30
|
|
|
ENST00000683623.1:c.3653_3656del
|
ENSP00000507702.1:p.Ala1218ValfsTer?
|
|
|
ENST00000683645.1:n.4297_4300del
|
|
|
|
ENST00000683796.1:c.*3618_*3621del
|
ENSP00000508221.1:n.*3618_*3621del
|
|
|
ENST00000683802.1:n.6671_6674del
|
|
|
|
ENST00000683833.1:c.3737_3740del
|
ENSP00000506852.1:p.Ala1246ValfsTer30
|
|
|
ENST00000683994.1:c.3746_3749del
|
ENSP00000507181.1:p.Ala1249ValfsTer?
|
|
|
ENST00000684290.1:c.*1282_*1285del
|
ENSP00000507243.1:n.*1282_*1285del
|
|
|
ENST00000684306.1:c.*3659_*3662del
|
ENSP00000508384.1:n.*3659_*3662del
|
|
|
ENST00000684341.1:n.3766_3769del
|
|
|
|
ENST00000684383.1:c.*3384_*3387del
|
ENSP00000506863.1:n.*3384_*3387del
|
|
|
ENST00000684418.1:n.4927_4930del
|
|
|
|
ENST00000684433.1:n.130_133del
|
|
|
|
ENST00000684454.1:n.3096_3099del
|
|
|
|
ENST00000684619.1:c.*3618_*3621del
|
ENSP00000508088.1:n.*3618_*3621del
|
|
|
ENST00000684743.1:n.6491_6494del
|
|
|
|
ENST00000260665.12:c.3746_3749del
MANE Select
|
ENSP00000260665.7:p.Ala1249ValfsTer?
|
|
|
ENST00000260665.11:c.3746_3749del
|
ENSP00000260665.7:p.Ala1249ValfsTer?
|
|
|
ENST00000463456.5:n.2789_2792del
|
|
|
|
ENST00000472420.5:n.143_146del
|
|
|
|
ENST00000483489.1:n.220_223del
|
|
|
|
NM_133259.3:c.3746_3749del
|
NP_573566.2:p.Ala1249ValfsTer?
|
|
|
XM_006711915.2:c.3668_3671del
|
XP_006711978.1:p.Ala1223ValfsTer?
|
|
|
XM_011532473.1:c.3746_3749del
|
XP_011530775.1:p.Ala1249ValfsTer30
|
|
|
XM_011532474.1:c.3746_3749del
|
XP_011530776.1:p.Ala1249ValfsTer?
|
|
|
XM_017003117.1:c.3668_3671del
|
XP_016858606.1:p.Ala1223ValfsTer30
|
|
|
XR_002958896.1:n.3788_3791del
|
|
|
|
NM_133259.4:c.3746_3749del
MANE Select
|
NP_573566.2:p.Ala1249ValfsTer?
|
|
