|
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3
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|
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NC_000011.10:g.1764137C>T
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rs536065000
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NC_000011.10:g.1764171T>C
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rs144932926
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NC_000011.10:g.1764217C>T
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rs191726273
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NC_000011.9:g.(?_1774733)_(1785089_?)dup
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NM_001909.4(CTSD):c.-132_-131insCCCGC
|
rs886048068
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NM_001909.4:c.486-12G>A
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NM_001909.5(CTSD):c.*10C>T
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rs768283127
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NM_001909.5(CTSD):c.*117C>T
|
rs527778631
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NM_001909.5(CTSD):c.*11G>A
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rs377057633
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NM_001909.5(CTSD):c.*130G>A
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NM_001909.5(CTSD):c.*133G>A
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NM_001909.5(CTSD):c.*140G>T
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rs551607350
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NM_001909.5(CTSD):c.*14C>T
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rs556410676
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NM_001909.5(CTSD):c.*15G>A
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rs745784791
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NM_001909.5(CTSD):c.*17G>A
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rs201616935
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NM_001909.5(CTSD):c.*19G>A
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rs201434721
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NM_001909.5(CTSD):c.*200C>G
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NM_001909.5(CTSD):c.*210C>G
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NM_001909.5(CTSD):c.*300G>A
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rs113940256
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NM_001909.5(CTSD):c.*330G>T
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NM_001909.5(CTSD):c.*342C>T
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rs1050822
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NM_001909.5(CTSD):c.*356C>G
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rs886048062
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NM_001909.5(CTSD):c.*358C>T
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rs542969755
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NM_001909.5(CTSD):c.*375A>G
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NM_001909.5(CTSD):c.*390G>A
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NM_001909.5(CTSD):c.*398G>A
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NM_001909.5(CTSD):c.*403C>T
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rs140852332
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NM_001909.5(CTSD):c.*494C>T
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NM_001909.5(CTSD):c.*4C>G
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rs1057521403
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NM_001909.5(CTSD):c.*509C>T
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NM_001909.5(CTSD):c.*555C>A
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NM_001909.5(CTSD):c.*574C>T
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rs886048061
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NM_001909.5(CTSD):c.*58C>T
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rs886048063
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NM_001909.5(CTSD):c.*597A>C
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rs8839
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NM_001909.5(CTSD):c.*651C>T
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NM_001909.5(CTSD):c.*654C>T
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rs148490566
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NM_001909.5(CTSD):c.*67A>G
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rs12214
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NM_001909.5(CTSD):c.*694G>A
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rs751538234
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NM_001909.5(CTSD):c.*736C>G
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rs577842141
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NM_001909.5(CTSD):c.*98G>A
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NM_001909.5(CTSD):c.-12_-10GCC[5] (p.Met1_Gln2insAla)
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rs886043526
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NM_001909.5(CTSD):c.-24C>T
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rs587780917
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NM_001909.5(CTSD):c.-30G>C
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rs937590868
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NM_001909.5(CTSD):c.-32C>T
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rs1057523809
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NM_001909.5(CTSD):c.-36G>C
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rs1474705113
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NM_001909.5(CTSD):c.-37G>A
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rs756112449
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NM_001909.5(CTSD):c.-3G>T
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rs541792699
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NM_001909.5(CTSD):c.-40C>T
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rs780212490
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NM_001909.5(CTSD):c.-45A>G
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rs1167050955
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NM_001909.5(CTSD):c.-47A>G
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rs886048067
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NM_001909.5(CTSD):c.-53C>T
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rs530324803
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NM_001909.5(CTSD):c.-6G>T
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rs951801692
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NM_001909.5(CTSD):c.1008C>T (p.Pro336=)
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NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
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rs147800688
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NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
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NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)
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rs779278368
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NM_001909.5(CTSD):c.1010C>T (p.Ala337Val)
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rs1057518324
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NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)
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rs1240316419
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NM_001909.5(CTSD):c.1023G>A (p.Lys341=)
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rs111849172
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NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)
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rs796052406
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NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
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NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg)
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rs1565018716
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NM_001909.5(CTSD):c.1047G>A (p.Leu349=)
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NM_001909.5(CTSD):c.1062C>T (p.Tyr354=)
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rs764106396
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NM_001909.5(CTSD):c.1065G>A (p.Thr355=)
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NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
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rs765270800
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NM_001909.5(CTSD):c.1071+10C>A
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NM_001909.5(CTSD):c.1071+12A>G
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rs113936232
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NM_001909.5(CTSD):c.1071+12A>T
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rs113936232
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NM_001909.5(CTSD):c.1071+6C>T
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rs759803379
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NM_001909.5(CTSD):c.1071+7G>A
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rs374010531
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NM_001909.5(CTSD):c.1071+9G>A
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rs747408239
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NM_001909.5(CTSD):c.1072-34T>C
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rs112379600
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NM_001909.5(CTSD):c.1072-7G>A
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rs149019571
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NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
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NM_001909.5(CTSD):c.1077G>A (p.Ser359=)
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rs138940129
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NM_001909.5(CTSD):c.1083C>T (p.Ala361=)
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NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)
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rs746733183
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NM_001909.5(CTSD):c.1101G>A (p.Leu367=)
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rs777289049
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NM_001909.5(CTSD):c.1104C>T (p.Ser368=)
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NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
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NM_001909.5(CTSD):c.1116C>T (p.Gly372=)
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rs557342549
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NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
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rs796052398
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NM_001909.5(CTSD):c.111G>A (p.Ser37=)
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rs535140505
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NM_001909.5(CTSD):c.111G>C (p.Ser37=)
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rs535140505
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NM_001909.5(CTSD):c.1122C>T (p.Asp374=)
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rs145821780
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NM_001909.5(CTSD):c.1128G>A (p.Pro376=)
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rs929763593
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NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
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NM_001909.5(CTSD):c.1137C>T (p.Ser379=)
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rs141981301
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NM_001909.5(CTSD):c.1140G>A (p.Gly380=)
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NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)
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rs121912790
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NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)
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rs767863175
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NM_001909.5(CTSD):c.1155_1169dup (p.Ile390_Gly391insMetGlyAspValPhe)
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rs730882208
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NM_001909.5(CTSD):c.1158C>T (p.Gly386=)
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NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)
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rs764522039
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NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)
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rs202073338
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NM_001909.5(CTSD):c.1170C>G (p.Ile390Met)
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rs370985523
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NM_001909.5(CTSD):c.1170C>T (p.Ile390=)
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NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
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NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
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rs778724059
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NM_001909.5(CTSD):c.1185T>G (p.Thr395=)
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rs1565018468
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NM_001909.5(CTSD):c.1196G>A (p.Arg399His)
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rs797045138
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NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)
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rs147553344
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NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)
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rs779858404
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NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)
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rs750489880
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NM_001909.5(CTSD):c.1211T>G (p.Val404Gly)
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rs796052399
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NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
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rs138733377
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NM_001909.5(CTSD):c.1221C>T (p.Ala407=)
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rs1439111867
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NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
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NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
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NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
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NM_001909.5(CTSD):c.1230C>T (p.Ala410=)
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rs772742148
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NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
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|
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NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
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NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)
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rs1554962202
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NM_001909.5(CTSD):c.1236C>G (p.Leu412=)
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rs1565018392
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NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
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|
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NM_001909.5(CTSD):c.131A>T (p.Glu44Val)
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rs1554963026
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NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)
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rs573939509
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NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
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rs545927559
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NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
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rs555516403
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NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)
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rs764386803
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NM_001909.5(CTSD):c.153C>T (p.Pro51=)
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rs560041488
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NM_001909.5(CTSD):c.154G>A (p.Val52Ile)
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rs143517230
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NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)
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|
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NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
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NM_001909.5(CTSD):c.174G>A (p.Ala58=)
|
rs565191387
|
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NM_001909.5(CTSD):c.180A>G (p.Pro60=)
|
rs749805002
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NM_001909.5(CTSD):c.183C>T (p.Ala61=)
|
|
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NM_001909.5(CTSD):c.184G>A (p.Val62Met)
|
rs756892066
|
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NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
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|
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NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
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NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
|
rs539823013
|
|
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
|
|
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NM_001909.5(CTSD):c.195G>T (p.Gly65=)
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|
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NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)
|
rs1335299144
|
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NM_001909.5(CTSD):c.19C>G (p.Leu7Val)
|
rs1470191996
|
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NM_001909.5(CTSD):c.19C>T (p.Leu7=)
|
|
|
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
|
|
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NM_001909.5(CTSD):c.204C>T (p.Pro68=)
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|
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NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
|
|
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NM_001909.5(CTSD):c.216G>A (p.Lys72=)
|
rs764982673
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NM_001909.5(CTSD):c.223A>G (p.Met75Val)
|
rs144192783
|
|
NM_001909.5(CTSD):c.228+18G>T
|
rs376354665
|
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NM_001909.5(CTSD):c.228C>T (p.Asp76=)
|
rs587780914
|
|
NM_001909.5(CTSD):c.229-19G>A
|
rs368152533
|
|
NM_001909.5(CTSD):c.229-25C>T
|
rs112184520
|
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
|
NM_001909.5(CTSD):c.237C>T (p.Tyr79=)
|
rs996421254
|
|
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)
|
rs147641822
|
|
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)
|
rs199551387
|
|
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp)
|
rs199551387
|
|
NM_001909.5(CTSD):c.24G>C (p.Pro8=)
|
|
|
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)
|
rs1565022412
|
|
NM_001909.5(CTSD):c.261G>A (p.Thr87=)
|
rs372181453
|
|
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)
|
rs796052400
|
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
|
NM_001909.5(CTSD):c.268dup (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.270G>A (p.Gln90=)
|
rs587780915
|
|
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)
|
rs1042278213
|
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
|
NM_001909.5(CTSD):c.285C>T (p.Val95=)
|
|
|
NM_001909.5(CTSD):c.288C>T (p.Phe96=)
|
rs778220078
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
|
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
|
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
|
rs1049074086
|
|
NM_001909.5(CTSD):c.306C>T (p.Asn102=)
|
rs1258957118
|
|
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
|
|
|
NM_001909.5(CTSD):c.315C>A (p.Val105=)
|
|
|
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
|
|
|
NM_001909.5(CTSD):c.345C>T (p.Ile115=)
|
rs200875086
|
|
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr)
|
rs367743333
|
|
NM_001909.5(CTSD):c.352+10G>C
|
rs775828680
|
|
NM_001909.5(CTSD):c.352+42T>C
|
rs149907533
|
|
NM_001909.5(CTSD):c.352+48A>G
|
rs139068420
|
|
NM_001909.5(CTSD):c.352+8A>T
|
rs944771031
|
|
NM_001909.5(CTSD):c.352+9C>T
|
|
|
NM_001909.5(CTSD):c.353-11G>A
|
rs372689713
|
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
|
NM_001909.5(CTSD):c.353-17C>T
|
rs7126177
|
|
NM_001909.5(CTSD):c.353-4G>A
|
|
|
NM_001909.5(CTSD):c.353-6G>A
|
rs1565022065
|
|
NM_001909.5(CTSD):c.353-8C>T
|
rs760934292
|
|
NM_001909.5(CTSD):c.353-9C>T
|
|
|
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
|
|
|
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
|
rs1590907227
|
|
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)
|
rs796052401
|
|
NM_001909.5(CTSD):c.37C>T (p.Leu13=)
|
rs763474887
|
|
NM_001909.5(CTSD):c.393C>T (p.Tyr131=)
|
rs776128996
|
|
NM_001909.5(CTSD):c.408C>G (p.Thr136=)
|
rs1060504644
|
|
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
|
|
|
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)
|
rs777645484
|
|
NM_001909.5(CTSD):c.411G>A (p.Ser137=)
|
rs372999684
|
|
NM_001909.5(CTSD):c.429C>T (p.Gly143=)
|
|
|
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp)
|
rs754147413
|
|
NM_001909.5(CTSD):c.432G>A (p.Ser144=)
|
rs587780916
|
|
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe)
|
rs796052402
|
|
NM_001909.5(CTSD):c.444C>T (p.Ser148=)
|
|
|
NM_001909.5(CTSD):c.446G>T (p.Gly149Val)
|
rs797045137
|
|
NM_001909.5(CTSD):c.447G>A (p.Gly149=)
|
rs752032660
|
|
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
|
|
|
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
|
|
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
|
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
|
|
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
|
NM_001909.5(CTSD):c.471+15G>C
|
rs201413619
|
|
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
|
rs760318745
|
|
NM_001909.5(CTSD):c.472-11C>G
|
|
|
NM_001909.5(CTSD):c.472-15T>C
|
rs758874267
|
|
NM_001909.5(CTSD):c.472-161G>T
|
rs60582924
|
|
NM_001909.5(CTSD):c.472-27G>T
|
rs146434428
|
|
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
|
|
|
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)
|
rs772976217
|
|
NM_001909.5(CTSD):c.489G>A (p.Ala163=)
|
rs767476700
|
|
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
|
|
|
NM_001909.5(CTSD):c.492G>A (p.Ser164=)
|
rs577842448
|
|
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)
|
rs796052396
|
|
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
|
|
|
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
|
rs768487717
|
|
NM_001909.5(CTSD):c.510C>T (p.Gly170=)
|
rs749196696
|
|
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)
|
rs775460488
|
|
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
|
|
|
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
|
rs796052403
|
|
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)
|
rs796052403
|
|
NM_001909.5(CTSD):c.534C>G (p.Val178=)
|
rs758852382
|
|
NM_001909.5(CTSD):c.537T>C (p.Phe179=)
|
|
|
NM_001909.5(CTSD):c.54C>T (p.Ala18=)
|
|
|
NM_001909.5(CTSD):c.552G>A (p.Lys184=)
|
rs765849046
|
|
NM_001909.5(CTSD):c.561C>T (p.Gly187=)
|
rs796052405
|
|
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)
|
rs1554962634
|
|
NM_001909.5(CTSD):c.570C>T (p.Phe190=)
|
rs1325097000
|
|
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
|
|
|
NM_001909.5(CTSD):c.592A>G (p.Ile198Val)
|
rs556334193
|
|
NM_001909.5(CTSD):c.606C>G (p.Ala202=)
|
|
|
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)
|
rs769825646
|
|
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
|
|
|
NM_001909.5(CTSD):c.621C>A (p.Ser207=)
|
rs367978332
|
|
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
|
|
|
NM_001909.5(CTSD):c.627C>T (p.Asn209=)
|
rs772453588
|
|
NM_001909.5(CTSD):c.630C>T (p.Asn210=)
|
rs375282504
|
|
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
|
|
|
NM_001909.5(CTSD):c.633G>C (p.Val211=)
|
rs1565021103
|
|
NM_001909.5(CTSD):c.636G>T (p.Leu212=)
|
rs567625495
|
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
|
NM_001909.5(CTSD):c.639C>T (p.Pro213=)
|
|
|
NM_001909.5(CTSD):c.63C>T (p.Leu21=)
|
rs1021613206
|
|
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
|
|
|
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
|
|
|
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)
|
rs1060502503
|
|
NM_001909.5(CTSD):c.651C>T (p.Asn217=)
|
|
|
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro)
|
rs1131691905
|
|
NM_001909.5(CTSD):c.654G>A (p.Leu218=)
|
|
|
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro)
|
rs886048066
|
|
NM_001909.5(CTSD):c.660G>C (p.Gln220His)
|
rs762797920
|
|
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
|
|
|
NM_001909.5(CTSD):c.675C>T (p.Asp225=)
|
|
|
NM_001909.5(CTSD):c.68+10C>G
|
rs760082760
|
|
NM_001909.5(CTSD):c.68+10C>T
|
rs760082760
|
|
NM_001909.5(CTSD):c.68+251G>C
|
rs147731370
|
|
NM_001909.5(CTSD):c.68+6G>A
|
rs1011130987
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)
|
rs121912789
|
|
NM_001909.5(CTSD):c.69-12C>T
|
rs764025297
|
|
NM_001909.5(CTSD):c.69-16G>A
|
rs377703110
|
|
NM_001909.5(CTSD):c.69-17C>A
|
rs371858126
|
|
NM_001909.5(CTSD):c.69-17C>T
|
rs371858126
|
|
NM_001909.5(CTSD):c.69-64C>T
|
rs116662058
|
|
NM_001909.5(CTSD):c.693C>T (p.Phe231=)
|
|
|
NM_001909.5(CTSD):c.697C>T (p.Leu233=)
|
rs142330967
|
|
NM_001909.5(CTSD):c.6G>A (p.Gln2=)
|
rs1328097097
|
|
NM_001909.5(CTSD):c.704+18C>T
|
rs371260793
|
|
NM_001909.5(CTSD):c.704+233G>A
|
rs2292962
|
|
NM_001909.5(CTSD):c.704+5G>A
|
rs1064796905
|
|
NM_001909.5(CTSD):c.704+6C>A
|
|
|
NM_001909.5(CTSD):c.704+6C>T
|
rs370847523
|
|
NM_001909.5(CTSD):c.704+7G>A
|
rs748547852
|
|
NM_001909.5(CTSD):c.705-4C>T
|
rs1057521968
|
|
NM_001909.5(CTSD):c.705-74C>T
|
rs2292963
|
|
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
|
|
|
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
|
|
|
NM_001909.5(CTSD):c.726G>A (p.Gly242=)
|
|
|
NM_001909.5(CTSD):c.729T>C (p.Gly243=)
|
rs774691757
|
|
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
|
|
|
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
|
rs145852974
|
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
|
NM_001909.5(CTSD):c.753C>T (p.Asp251=)
|
|
|
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)
|
rs138191189
|
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
|
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)
|
rs786205105
|
|
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
|
rs746312808
|
|
NM_001909.5(CTSD):c.76C>A (p.Leu26Met)
|
rs1029534680
|
|
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala)
|
rs1057518289
|
|
NM_001909.5(CTSD):c.771T>C (p.Gly257=)
|
|
|
NM_001909.5(CTSD):c.780C>T (p.Ser260=)
|
rs1404000220
|
|
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)
|
rs373621431
|
|
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
|
|
|
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser)
|
rs952058991
|
|
NM_001909.5(CTSD):c.816C>A (p.Val272=)
|
rs1554962441
|
|
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)
|
rs145905196
|
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
|
NM_001909.5(CTSD):c.827+2T>C
|
|
|
NM_001909.5(CTSD):c.827+9T>A
|
rs757270638
|
|
NM_001909.5(CTSD):c.828-14_828-13del
|
rs796052395
|
|
NM_001909.5(CTSD):c.828-17G>A
|
rs78735768
|
|
NM_001909.5(CTSD):c.828-18C>T
|
rs377228580
|
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
|
NM_001909.5(CTSD):c.828-247_828-221del
|
rs1219998189
|
|
NM_001909.5(CTSD):c.828-4G>A
|
rs371034011
|
|
NM_001909.5(CTSD):c.828-5C>T
|
rs762444592
|
|
NM_001909.5(CTSD):c.828-6C>G
|
|
|
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
|
|
|
NM_001909.5(CTSD):c.843C>T (p.Ser281=)
|
|
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
|
NM_001909.5(CTSD):c.846G>A (p.Gly282=)
|
rs112021026
|
|
NM_001909.5(CTSD):c.849G>A (p.Leu283=)
|
|
|
NM_001909.5(CTSD):c.867C>T (p.Gly289=)
|
rs1200494428
|
|
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu)
|
rs748185051
|
|
NM_001909.5(CTSD):c.882G>A (p.Val294=)
|
rs778999077
|
|
NM_001909.5(CTSD):c.891C>T (p.Gly297=)
|
rs755183661
|
|
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
|
|
|
NM_001909.5(CTSD):c.89C>T (p.Thr30Met)
|
rs747274524
|
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
|
NM_001909.5(CTSD):c.90G>A (p.Thr30=)
|
rs368529527
|
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
|
NM_001909.5(CTSD):c.918T>C (p.Asp306=)
|
|
|
NM_001909.5(CTSD):c.924G>A (p.Val308=)
|
rs1554962286
|
|
NM_001909.5(CTSD):c.926G>A (p.Arg309His)
|
rs374540411
|
|
NM_001909.5(CTSD):c.927C>T (p.Arg309=)
|
rs1174115566
|
|
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)
|
rs373699222
|
|
NM_001909.5(CTSD):c.933G>A (p.Leu311=)
|
rs1428157464
|
|
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr)
|
rs886048065
|
|
NM_001909.5(CTSD):c.945C>T (p.Ile315=)
|
rs752172496
|
|
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)
|
rs764766572
|
|
NM_001909.5(CTSD):c.951C>T (p.Ala317=)
|
rs78306946
|
|
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
|
rs373170074
|
|
NM_001909.5(CTSD):c.957G>A (p.Pro319=)
|
rs369229897
|
|
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
|
|
|
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
|
|
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
|
NM_001909.5(CTSD):c.972+7G>A
|
rs371747998
|
|
NM_001909.5(CTSD):c.972+9C>T
|
rs746243061
|
|
NM_001909.5(CTSD):c.973-10C>T
|
|
|
NM_001909.5(CTSD):c.973-14G>A
|
rs1354741089
|
|
NM_001909.5(CTSD):c.973-8C>A
|
rs886048064
|
|
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
|
|
|
NM_001909.5(CTSD):c.977T>C (p.Met326Thr)
|
rs1565018786
|
|
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
|
rs370282882
|
|
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala)
|
rs796052397
|
|
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
|
|
|
NM_001909.5(CTSD):c.993G>A (p.Lys331=)
|
rs1181418072
|
|
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)
|
rs1181418072
|
|
NM_001909.5(CTSD):c.999C>A (p.Ser333=)
|
|
|
NM_001909.5(CTSD):c.99C>G (p.Arg33=)
|
rs1590908750
|