NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
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rs749720760
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0.00005
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NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
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rs746610168
|
0.00004
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NM_000303.3(PMM2):c.640-15479C>T
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rs1258107584
|
0.00004
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NM_000303.3(PMM2):c.178+1G>A
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rs935962174
|
0.00002
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NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
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rs755402538
|
0.00001
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NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NC_000016.10:g.(?_8847701)_(8847845_?)del
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NC_000016.9:g.(?_8895646)_(8895777_?)dup
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NC_000016.9:g.(?_8898599)_(8898710_?)dup
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NM_000303.3(PMM2):c.130G>A (p.Val44Ile)
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rs2060618497
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NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
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NM_000303.3(PMM2):c.178+2T>G
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rs1555448922
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NM_000303.3(PMM2):c.179-1G>C
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NM_000303.3(PMM2):c.179-2A>G
|
rs2141019036
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NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
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NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
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NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
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NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
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NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
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NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
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NM_000303.3(PMM2):c.347+1G>A
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rs1057517117
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NM_000303.3(PMM2):c.348-2A>G
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NM_000303.3(PMM2):c.348-2del
|
rs2141022949
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NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)
|
rs104894530
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NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
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NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
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NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
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NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
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NM_000303.3(PMM2):c.431T>G (p.Phe144Cys)
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rs2141023054
|
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NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
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NM_000303.3(PMM2):c.447+2T>A
|
rs1567160054
|
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NM_000303.3(PMM2):c.448-1G>A
|
rs762937296
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NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
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NM_000303.3(PMM2):c.448-2A>G
|
rs2141023331
|
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NM_000303.3(PMM2):c.448-2A>T
|
rs2141023331
|
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NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
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NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
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NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
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NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
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|
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NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
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|
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NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
|
|
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NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
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|
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NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr)
|
rs2141024241
|
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NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
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|
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NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
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NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
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NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
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NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)
|
rs1202400777
|
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NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
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NM_000303.3(PMM2):c.66_66+1delinsTA
|
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NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
|
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NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
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NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
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NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
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NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
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NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
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NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
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NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
|
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NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
|
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NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
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NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
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