NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
0.36815
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
0.36806
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001927.4(DES):c.540C>T (p.Arg180=)
|
rs757644636
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_001927.4(DES):c.699C>T (p.Asn233=)
|
rs758066814
|
0.00009
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
NM_001927.4(DES):c.268G>C (p.Asp90His)
|
rs1267102255
|
0.00004
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
0.00003
|
NM_001927.4(DES):c.936C>T (p.Asp312=)
|
rs769213907
|
0.00003
|
NM_001927.4(DES):c.1008C>T (p.Asp336=)
|
rs531293539
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
0.00002
|
NM_001927.4(DES):c.196C>A (p.Leu66Met)
|
rs1320380570
|
0.00002
|
NM_001927.4(DES):c.258C>G (p.Gly86=)
|
rs994454109
|
0.00002
|
NM_001927.4(DES):c.40T>C (p.Tyr14His)
|
rs750819338
|
0.00002
|
NM_001927.4(DES):c.414C>G (p.Ala138=)
|
rs1445220768
|
0.00002
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
0.00002
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
NM_001927.4(DES):c.933C>T (p.Asn311=)
|
rs756434148
|
0.00002
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
0.00001
|
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
|
rs762808690
|
0.00001
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
NM_001927.4(DES):c.1209C>T (p.Ala403=)
|
rs200054661
|
0.00001
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
NM_001927.4(DES):c.1227G>A (p.Leu409=)
|
rs143954788
|
0.00001
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
0.00001
|
NM_001927.4(DES):c.12C>A (p.Ala4=)
|
rs762566962
|
0.00001
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
NM_001927.4(DES):c.1335G>A (p.Thr445=)
|
rs780984657
|
0.00001
|
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)
|
rs541585670
|
0.00001
|
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)
|
rs397516691
|
0.00001
|
NM_001927.4(DES):c.150G>T (p.Thr50=)
|
rs1179760415
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001927.4(DES):c.282C>G (p.Ala94=)
|
rs397516693
|
0.00001
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
NM_001927.4(DES):c.291G>A (p.Val97=)
|
rs775205419
|
0.00001
|
NM_001927.4(DES):c.313C>T (p.Arg105Cys)
|
rs794728993
|
0.00001
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
0.00001
|
NM_001927.4(DES):c.357C>T (p.Phe119=)
|
rs1156903614
|
0.00001
|
NM_001927.4(DES):c.415G>C (p.Glu139Gln)
|
rs763769862
|
0.00001
|
NM_001927.4(DES):c.488G>C (p.Arg163Pro)
|
rs1457012198
|
0.00001
|
NM_001927.4(DES):c.516G>A (p.Gln172=)
|
rs1014762661
|
0.00001
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
rs752944882
|
0.00001
|
NM_001927.4(DES):c.552C>T (p.Leu184=)
|
rs1050510822
|
0.00001
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
NM_001927.4(DES):c.593T>C (p.Ile198Thr)
|
rs773271116
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.60G>A (p.Gly20=)
|
rs1058253
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
0.00001
|
NM_001927.4(DES):c.664C>T (p.Arg222Cys)
|
rs374687448
|
0.00001
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
rs767502653
|
0.00001
|
NM_001927.4(DES):c.673C>T (p.Leu225=)
|
rs774330779
|
0.00001
|
NM_001927.4(DES):c.710C>T (p.Ala237Val)
|
rs374144840
|
0.00001
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
|
rs1256488465
|
0.00001
|
NM_001927.4(DES):c.794T>C (p.Met265Thr)
|
rs1457398926
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001927.4(DES):c.816C>T (p.Ala272=)
|
rs759823001
|
0.00001
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
NM_001927.4(DES):c.83C>T (p.Ser28Phe)
|
rs1954361986
|
0.00001
|
NM_001927.4(DES):c.855G>A (p.Ala285=)
|
rs139818514
|
0.00001
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
NM_001927.4(DES):c.1002G>A (p.Glu334=)
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
NM_001927.4(DES):c.1024-4G>A
|
|
|
NM_001927.4(DES):c.1073G>T (p.Ser358Ile)
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
NM_001927.4(DES):c.1096A>G (p.Asn366Asp)
|
|
|
NM_001927.4(DES):c.1099A>G (p.Ile367Val)
|
rs62636494
|
|
NM_001927.4(DES):c.109C>A (p.Arg37=)
|
|
|
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
|
|
|
NM_001927.4(DES):c.1125G>C (p.Arg375=)
|
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.114G>T (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1153C>G (p.Leu385Val)
|
rs1393155504
|
|
NM_001927.4(DES):c.1157G>A (p.Arg386His)
|
rs1029457073
|
|
NM_001927.4(DES):c.1157G>T (p.Arg386Leu)
|
|
|
NM_001927.4(DES):c.115G>A (p.Gly39Ser)
|
rs758434755
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)
|
rs1553603571
|
|
NM_001927.4(DES):c.120C>T (p.Phe40=)
|
|
|
NM_001927.4(DES):c.1215C>T (p.Tyr405=)
|
|
|
NM_001927.4(DES):c.1227G>T (p.Leu409=)
|
rs143954788
|
|
NM_001927.4(DES):c.1245-3T>G
|
rs111427762
|
|
NM_001927.4(DES):c.1269C>T (p.Tyr423=)
|
rs765867148
|
|
NM_001927.4(DES):c.1281C>T (p.Asn427=)
|
rs17853018
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.1308G>A (p.Arg436=)
|
|
|
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer)
|
rs1114167327
|
|
NM_001927.4(DES):c.1335G>T (p.Thr445=)
|
|
|
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)
|
rs1064796352
|
|
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
|
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
|
|
NM_001927.4(DES):c.1360C>A (p.Arg454=)
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1371+2dup
|
rs2125172078
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1374C>T (p.Val458=)
|
rs727502952
|
|
NM_001927.4(DES):c.1401T>C (p.His467=)
|
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.144G>A (p.Ser48=)
|
rs1553603221
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
NM_001927.4(DES):c.15C>A (p.Tyr5Ter)
|
|
|
NM_001927.4(DES):c.172C>T (p.Arg58Cys)
|
|
|
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
|
|
|
NM_001927.4(DES):c.17C>G (p.Ser6Trp)
|
rs1214936508
|
|
NM_001927.4(DES):c.190G>A (p.Gly64Arg)
|
|
|
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
|
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
|
|
NM_001927.4(DES):c.221T>C (p.Leu74Pro)
|
|
|
NM_001927.4(DES):c.246C>T (p.Ser82=)
|
|
|
NM_001927.4(DES):c.258C>T (p.Gly86=)
|
rs994454109
|
|
NM_001927.4(DES):c.282C>T (p.Ala94=)
|
|
|
NM_001927.4(DES):c.303T>C (p.Phe101=)
|
|
|
NM_001927.4(DES):c.314G>C (p.Arg105Pro)
|
|
|
NM_001927.4(DES):c.314_315delinsCT (p.Arg105Pro)
|
|
|
NM_001927.4(DES):c.315C>T (p.Arg105=)
|
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
rs1488426454
|
|
NM_001927.4(DES):c.327G>C (p.Lys109Asn)
|
|
|
NM_001927.4(DES):c.339G>A (p.Gln113=)
|
|
|
NM_001927.4(DES):c.349G>C (p.Asp117His)
|
rs1954372615
|
|
NM_001927.4(DES):c.351C>T (p.Asp117=)
|
|
|
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
|
|
|
NM_001927.4(DES):c.361A>C (p.Asn121His)
|
rs1954373113
|
|
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
|
rs1954359599
|
|
NM_001927.4(DES):c.396G>C (p.Gln132His)
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.406C>G (p.Leu136Val)
|
rs1175707667
|
|
NM_001927.4(DES):c.411C>T (p.Ala137=)
|
rs549278754
|
|
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
|
|
|
NM_001927.4(DES):c.429C>T (p.Leu143=)
|
|
|
NM_001927.4(DES):c.435C>A (p.Gly145=)
|
|
|
NM_001927.4(DES):c.438C>G (p.Arg146=)
|
rs569103926
|
|
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
|
|
|
NM_001927.4(DES):c.446C>G (p.Thr149Arg)
|
|
|
NM_001927.4(DES):c.447G>A (p.Thr149=)
|
|
|
NM_001927.4(DES):c.450A>C (p.Arg150=)
|
|
|
NM_001927.4(DES):c.456C>T (p.Ala152=)
|
|
|
NM_001927.4(DES):c.460C>A (p.Leu154Ile)
|
|
|
NM_001927.4(DES):c.461T>C (p.Leu154Pro)
|
|
|
NM_001927.4(DES):c.462C>T (p.Leu154=)
|
|
|
NM_001927.4(DES):c.480G>C (p.Arg160=)
|
|
|
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
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NM_001927.4(DES):c.483G>C (p.Glu161Asp)
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NM_001927.4(DES):c.490C>A (p.Arg164Ser)
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NM_001927.4(DES):c.495G>C (p.Gln165His)
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NM_001927.4(DES):c.510T>C (p.Thr170=)
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NM_001927.4(DES):c.515A>T (p.Gln172Leu)
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NM_001927.4(DES):c.522G>C (p.Ala174=)
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NM_001927.4(DES):c.540C>G (p.Arg180=)
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NM_001927.4(DES):c.541G>C (p.Asp181His)
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rs1297244198
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NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)
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NM_001927.4(DES):c.552C>G (p.Leu184=)
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NM_001927.4(DES):c.55G>C (p.Gly19Arg)
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rs936853024
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NM_001927.4(DES):c.578+3G>T
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NM_001927.4(DES):c.582G>C (p.Leu194=)
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NM_001927.4(DES):c.597G>C (p.Gln199His)
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NM_001927.4(DES):c.602A>G (p.Lys201Arg)
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NM_001927.4(DES):c.622T>C (p.Leu208=)
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rs764389526
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NM_001927.4(DES):c.623T>C (p.Leu208Ser)
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rs373062962
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NM_001927.4(DES):c.651A>G (p.Ala217=)
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rs1553603407
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NM_001927.4(DES):c.658C>G (p.Leu220Val)
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NM_001927.4(DES):c.670G>C (p.Asp224His)
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NM_001927.4(DES):c.68G>A (p.Gly23Asp)
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NM_001927.4(DES):c.705G>A (p.Glu235=)
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rs370836572
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NM_001927.4(DES):c.709G>T (p.Ala237Ser)
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rs397516697
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NM_001927.4(DES):c.729T>C (p.His243=)
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rs949090924
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NM_001927.4(DES):c.735+3A>G
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rs267607483
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NM_001927.4(DES):c.743G>T (p.Arg248Leu)
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NM_001927.4(DES):c.760C>T (p.Leu254Phe)
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NM_001927.4(DES):c.767A>G (p.Glu256Gly)
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rs1553603440
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NM_001927.4(DES):c.823A>G (p.Arg275Gly)
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rs994389035
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NM_001927.4(DES):c.832C>T (p.Arg278Trp)
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rs794728985
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NM_001927.4(DES):c.844G>A (p.Glu282Lys)
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NM_001927.4(DES):c.845A>G (p.Glu282Gly)
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NM_001927.4(DES):c.847A>G (p.Thr283Ala)
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NM_001927.4(DES):c.897+4_897+5del
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rs397516699
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NM_001927.4(DES):c.906C>A (p.Asp302Glu)
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rs1224203630
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NM_001927.4(DES):c.944G>A (p.Arg315His)
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rs771455648
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NM_001927.4(DES):c.985C>T (p.Gln329Ter)
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rs759320891
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NM_001927.4(DES):c.998G>T (p.Cys333Phe)
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NM_001927.4(DES):c.999C>G (p.Cys333Trp)
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NM_001927.4(DES):c.9G>A (p.Gln3=)
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