NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
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NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
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NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
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rs201898615
|
0.00038
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NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
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rs201312386
|
0.00019
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NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
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rs781133955
|
0.00005
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NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
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rs779575471
|
0.00004
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NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
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NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
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NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
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NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
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NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
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NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
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NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
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NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
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NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
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NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
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NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
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NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
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NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
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NM_015506.3(MMACHC):c.276+5G>A
|
|
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NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
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NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
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NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
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NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
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NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
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NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
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NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
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NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
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NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|