NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)
|
rs375582374
|
0.00002
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)
|
rs143423935
|
0.00001
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
0.00001
|
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)
|
rs1303774639
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)
|
rs376034559
|
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NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
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NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
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NM_000404.4(GLB1):c.1234-1G>T
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NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
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|
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NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)
|
rs200181401
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NM_000404.4(GLB1):c.1347+1G>T
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|
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NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
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rs968221254
|
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NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
|
rs1215113920
|
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NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)
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rs1172435886
|
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NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
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|
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NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
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|
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NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
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|
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NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
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|
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NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)
|
rs2125463133
|
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NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
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|
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NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
|
|
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NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
|
rs1697138071
|
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NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)
|
rs2125442981
|
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NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
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|
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NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
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NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
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|
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NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)
|
rs72555392
|
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NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
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|
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NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)
|
rs72555371
|
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NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
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NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
|
rs72555370
|
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NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
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NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
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NM_000404.4(GLB1):c.396+2T>C
|
rs1057517738
|
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NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
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NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
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NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
|
|
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NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
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NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
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|
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NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
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|
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NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)
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rs2125543580
|
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NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
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NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
|
|
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NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
|
|
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NM_000404.4(GLB1):c.76-1G>T
|
|
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NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
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NM_000404.4(GLB1):c.765G>T (p.Gln255His)
|
|
|
NM_000404.4(GLB1):c.827A>C (p.His276Pro)
|
rs1559401406
|
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NM_000404.4(GLB1):c.842A>G (p.His281Arg)
|
|
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NM_000404.4(GLB1):c.915-1G>T
|
rs749020375
|
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NM_000404.4(GLB1):c.915-2A>G
|
|
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NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
|
|
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NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
|
|
|
NM_000404.4(GLB1):c.955+2T>G
|
rs746883447
|
|
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
|
|
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NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
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