NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
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rs181735466
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0.00032
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NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
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rs929286583
|
0.00004
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NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
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rs2092906065
|
0.00001
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NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
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rs1264514990
|
0.00001
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NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
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rs1329966515
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0.00001
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NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
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rs1227387097
|
0.00001
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
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rs1285791183
|
0.00001
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NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
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rs1344891508
|
0.00001
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NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
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|
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NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
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rs2092906185
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NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
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NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
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NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
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NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
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NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
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|
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NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
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rs1217324478
|
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NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
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NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
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rs2143076321
|
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NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
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NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
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NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
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NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
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rs1469781984
|
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NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
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rs1186888836
|
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NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
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NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
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NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
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NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
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|
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NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
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NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
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NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
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NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
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NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
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NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
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|
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NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
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|
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NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
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NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
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|
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NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
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rs1285791183
|
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NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
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|
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NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
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NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
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|
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NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
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|
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NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
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rs1217361905
|
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NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
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|
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NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
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NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
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NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
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NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
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NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
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NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
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rs988433554
|
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NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
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NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
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NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
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NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
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NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
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NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
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