ENST00000394464.7:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
MANE Select
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ENSP00000377977.2:p.Glu489ValfsTer48
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ENST00000652686.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000498663.1:p.Glu489ValfsTer48
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ENST00000231509.7:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000231509.3:p.Glu490ValfsTer48
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ENST00000343796.6:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000343205.2:p.Glu489ValfsTer48
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ENST00000394464.6:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000377977.2:p.Glu489ValfsTer48
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ENST00000394466.6:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000377979.2:p.Glu490ValfsTer48
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ENST00000415690.6:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000387672.2:p.Glu489ValfsTer48
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ENST00000424646.6:c.1385_1386insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000405282.2:p.Glu463ValfsTer48
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ENST00000503201.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000427672.1:p.Glu489ValfsTer48
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ENST00000504336.1:n.403_404insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENST00000504572.5:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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ENSP00000422518.1:p.Glu490ValfsTer48
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NM_000176.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_000167.1:p.Glu489ValfsTer48
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NM_001018074.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018084.1:p.Glu489ValfsTer48
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NM_001018075.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018085.1:p.Glu489ValfsTer48
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NM_001018076.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018086.1:p.Glu489ValfsTer48
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NM_001018077.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018087.1:p.Glu489ValfsTer48
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NM_001020825.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018661.1:p.Glu489ValfsTer48
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NM_001024094.1:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001019265.1:p.Glu490ValfsTer48
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NM_001204258.1:c.1385_1386insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191187.1:p.Glu463ValfsTer48
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NM_001204259.1:c.1208_1209insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191188.1:p.Glu404ValfsTer48
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NM_001204260.1:c.1196_1197insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191189.1:p.Glu400ValfsTer48
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NM_001204261.1:c.1172_1173insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191190.1:p.Glu392ValfsTer48
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NM_001204262.1:c.518_519insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191191.1:p.Glu174ValfsTer48
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NM_001204263.1:c.473_474insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191192.1:p.Glu159ValfsTer48
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NM_001204264.1:c.458_459insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191193.1:p.Glu154ValfsTer48
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NM_001204265.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191194.1:p.Glu489ValfsTer48
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XM_005268419.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268476.1:p.Glu490ValfsTer48
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XM_005268420.3:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268477.1:p.Glu490ValfsTer48
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XM_005268422.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268479.1:p.Glu490ValfsTer48
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XM_005268423.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268480.1:p.Glu490ValfsTer48
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XM_011537637.1:c.272_273insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_011535939.1:p.Glu92ValfsTer48
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NR_157096.1:n.386_387insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XM_005268419.4:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268476.1:p.Glu490ValfsTer48
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XM_005268420.4:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268477.1:p.Glu490ValfsTer48
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XM_005268422.3:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268479.1:p.Glu490ValfsTer48
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XM_005268423.3:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_005268480.1:p.Glu490ValfsTer48
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XM_011537637.3:c.272_273insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_011535939.1:p.Glu92ValfsTer48
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XM_017009397.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_016864886.1:p.Glu489ValfsTer48
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XM_017009398.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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XP_016864887.1:p.Glu489ValfsTer48
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NM_000176.3:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
MANE Select
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NP_000167.1:p.Glu489ValfsTer48
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NM_001364180.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351109.1:p.Glu489ValfsTer48
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NM_001364181.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351110.1:p.Glu489ValfsTer48
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NM_001364182.1:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351111.1:p.Glu489ValfsTer48
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NM_001364183.1:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351112.1:p.Glu490ValfsTer48
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NM_001364184.1:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351113.1:p.Glu490ValfsTer48
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NM_001364185.1:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351114.1:p.Glu490ValfsTer48
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NM_001018076.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018086.1:p.Glu489ValfsTer48
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NM_001020825.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001018661.1:p.Glu489ValfsTer48
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NM_001024094.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001019265.1:p.Glu490ValfsTer48
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NM_001204258.2:c.1385_1386insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191187.1:p.Glu463ValfsTer48
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NM_001204259.2:c.1208_1209insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191188.1:p.Glu404ValfsTer48
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NM_001204260.2:c.1196_1197insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191189.1:p.Glu400ValfsTer48
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NM_001204261.2:c.1172_1173insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191190.1:p.Glu392ValfsTer48
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NM_001204262.2:c.518_519insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191191.1:p.Glu174ValfsTer48
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NM_001204263.2:c.473_474insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191192.1:p.Glu159ValfsTer48
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NM_001204264.2:c.458_459insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191193.1:p.Glu154ValfsTer48
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NM_001204265.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001191194.1:p.Glu489ValfsTer48
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NM_001364180.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351109.1:p.Glu489ValfsTer48
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NM_001364181.2:c.1463_1464insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351110.1:p.Glu489ValfsTer48
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NM_001364183.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351112.1:p.Glu490ValfsTer48
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NM_001364184.2:c.1466_1467insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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NP_001351113.1:p.Glu490ValfsTer48
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NR_157096.2:n.386_387insAGTTAGGTTGCAGAGTCAGTCACAAAATAGCATGGCACACCATAGAGGGCATAGGGCCACAGGAACAAGA
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