NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_001082486.2(ACD):c.46C>A (p.Leu16Met)
|
rs200365807
|
0.00044
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)
|
rs150078051
|
0.00014
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
|
rs200293827
|
0.00010
|
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
|
rs370512338
|
0.00009
|
NM_001082486.2(ACD):c.-24C>T
|
rs770445581
|
0.00008
|
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)
|
rs775607009
|
0.00008
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
NM_001082486.2(ACD):c.100-7C>G
|
rs774058030
|
0.00005
|
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)
|
rs553014261
|
0.00005
|
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
|
rs531580930
|
0.00005
|
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)
|
rs374742891
|
0.00005
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr)
|
rs373593390
|
0.00004
|
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)
|
rs778255016
|
0.00004
|
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys)
|
rs781239912
|
0.00004
|
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
|
rs776468683
|
0.00004
|
NM_001082486.2(ACD):c.944C>A (p.Pro315His)
|
rs147306863
|
0.00004
|
NM_022914.2(ACD):c.116G>A (p.Arg39His)
|
rs199612237
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)
|
rs753367228
|
0.00003
|
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
|
rs200526158
|
0.00003
|
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)
|
rs781117606
|
0.00003
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser)
|
rs758700674
|
0.00003
|
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)
|
rs1300291520
|
0.00003
|
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)
|
rs752006255
|
0.00002
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
NM_001082486.2(ACD):c.1211C>A (p.Pro404His)
|
rs201907421
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)
|
rs773274371
|
0.00002
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
NM_001082486.2(ACD):c.545dup (p.Ala184fs)
|
rs1567641214
|
0.00002
|
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
|
rs1181866888
|
0.00002
|
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)
|
rs777476880
|
0.00002
|
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
|
rs780951085
|
0.00002
|
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
|
rs1006777863
|
0.00002
|
NC_000016.10:g.67660316G>T
|
rs774922687
|
0.00001
|
NM_001082486.1(ACD):c.107G>A (p.Gly36Glu)
|
rs527307806
|
0.00001
|
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)
|
rs755584473
|
0.00001
|
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)
|
rs1396620065
|
0.00001
|
NM_001082486.1(ACD):c.131G>T (p.Gly44Val)
|
rs756883228
|
0.00001
|
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu)
|
rs765105630
|
0.00001
|
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)
|
rs760222002
|
0.00001
|
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr)
|
rs781229512
|
0.00001
|
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala)
|
rs949049586
|
0.00001
|
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)
|
rs776842448
|
0.00001
|
NM_001082486.2(ACD):c.-20C>T
|
rs148124985
|
0.00001
|
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)
|
rs368783801
|
0.00001
|
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)
|
rs745338439
|
0.00001
|
NM_001082486.2(ACD):c.1046del (p.Ser349fs)
|
rs1291433639
|
0.00001
|
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)
|
rs370293582
|
0.00001
|
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
|
rs757414908
|
0.00001
|
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser)
|
rs996525402
|
0.00001
|
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)
|
rs772867895
|
0.00001
|
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)
|
rs747913250
|
0.00001
|
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter)
|
rs761750721
|
0.00001
|
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)
|
rs779041176
|
0.00001
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg)
|
rs149418249
|
0.00001
|
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)
|
rs775323156
|
0.00001
|
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)
|
rs1397584716
|
0.00001
|
NM_001082486.2(ACD):c.170C>T (p.Thr57Met)
|
rs1383980242
|
0.00001
|
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe)
|
rs368387402
|
0.00001
|
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
|
rs775602659
|
0.00001
|
NM_001082486.2(ACD):c.494-3C>G
|
rs1173572864
|
0.00001
|
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
|
rs1435126124
|
0.00001
|
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile)
|
rs144087853
|
0.00001
|
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
|
rs780160617
|
0.00001
|
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu)
|
rs1445067662
|
0.00001
|
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter)
|
rs1339068886
|
0.00001
|
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln)
|
rs146270351
|
0.00001
|
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
|
rs72547495
|
0.00001
|
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
|
rs571116752
|
0.00001
|
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)
|
rs1039048796
|
0.00001
|
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)
|
rs748280747
|
0.00001
|
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)
|
rs752793753
|
0.00001
|
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)
|
rs139256582
|
0.00001
|
NM_001082486.2(ACD):c.742+4A>G
|
rs1380521995
|
0.00001
|
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
|
rs754631809
|
0.00001
|
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
|
rs760404492
|
0.00001
|
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
|
rs1035052101
|
0.00001
|
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)
|
rs1370466465
|
0.00001
|
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly)
|
rs779705657
|
0.00001
|
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)
|
rs754815475
|
0.00001
|
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)
|
rs200298308
|
0.00001
|
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)
|
rs760978454
|
0.00001
|
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn)
|
rs748834837
|
0.00001
|
NM_001082486.2(ACD):c.99+3G>A
|
rs1189416936
|
0.00001
|
NC_000016.10:g.67660263_67660288del
|
|
|
NC_000016.10:g.67660263_67660288dup
|
rs1339425052
|
|
NC_000016.10:g.67660277C>G
|
rs776666988
|
|
NC_000016.10:g.67660292_67660309del
|
rs1185708088
|
|
NC_000016.10:g.67660300del
|
rs2142976499
|
|
NC_000016.10:g.67660322_67660356del
|
rs2142976594
|
|
NC_000016.10:g.67660324AGG[2]
|
rs1198905942
|
|
NC_000016.10:g.67660332_67660346dup
|
rs2142976632
|
|
NC_000016.10:g.67660358G>A
|
rs1347436636
|
|
NC_000016.10:g.67660400C>G
|
rs2052987449
|
|
NC_000016.10:g.67660407C>T
|
rs745972649
|
|
NC_000016.10:g.67660407_67660419dup
|
rs757084527
|
|
NC_000016.10:g.67660478T>C
|
rs1308323945
|
|
NC_000016.9:g.(?_65821800)_(72146396_?)del
|
|
|
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
|
|
|
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)
|
rs772377460
|
|
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg)
|
rs1452825225
|
|
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys)
|
rs748543340
|
|
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
|
|
|
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
|
|
|
NM_001082486.1(ACD):c.119C>T (p.Ala40Val)
|
rs374417270
|
|
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
|
|
|
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln)
|
rs767099534
|
|
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
|
|
|
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp)
|
rs773291286
|
|
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
|
|
|
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
|
|
|
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser)
|
rs2142976460
|
|
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
|
|
|
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr)
|
rs763682845
|
|
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
|
|
|
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
|
|
|
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
|
|
|
NM_001082486.1(ACD):c.37G>A (p.Val13Ile)
|
rs781424953
|
|
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
|
|
|
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr)
|
rs372927331
|
|
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
|
|
|
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
|
|
|
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser)
|
rs1237579301
|
|
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
|
|
|
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
|
|
|
NM_001082486.1(ACD):c.88C>T (p.His30Tyr)
|
rs376813282
|
|
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg)
|
rs761628896
|
|
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys)
|
rs761628896
|
|
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp)
|
rs774085628
|
|
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
|
|
|
NM_001082486.2(ACD):c.-14G>T
|
|
|
NM_001082486.2(ACD):c.-23A>T
|
rs746445437
|
|
NM_001082486.2(ACD):c.-26T>G
|
|
|
NM_001082486.2(ACD):c.-29C>A
|
|
|
NM_001082486.2(ACD):c.-29C>G
|
rs534010648
|
|
NM_001082486.2(ACD):c.-29C>T
|
|
|
NM_001082486.2(ACD):c.-30C>T
|
|
|
NM_001082486.2(ACD):c.-36C>A
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>G
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>T
|
|
|
NM_001082486.2(ACD):c.-38A>T
|
|
|
NM_001082486.2(ACD):c.-8C>G
|
rs766360608
|
|
NM_001082486.2(ACD):c.-8C>T
|
rs766360608
|
|
NM_001082486.2(ACD):c.-9G>A
|
|
|
NM_001082486.2(ACD):c.-9G>C
|
rs377247506
|
|
NM_001082486.2(ACD):c.-9G>T
|
rs377247506
|
|
NM_001082486.2(ACD):c.100-1G>A
|
|
|
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys)
|
rs762262197
|
|
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
|
|
|
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
|
|
|
NM_001082486.2(ACD):c.100G>A (p.Val34Ile)
|
rs2052973227
|
|
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter)
|
rs1316577809
|
|
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)
|
rs1567640107
|
|
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
|
|
|
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)
|
rs2142967912
|
|
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
|
|
|
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
|
|
|
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
|
|
|
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
|
|
|
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
|
|
|
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser)
|
rs143990276
|
|
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
|
|
|
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
|
|
|
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
|
|
|
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val)
|
rs2142967624
|
|
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
|
|
|
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
|
|
|
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter)
|
rs2052908546
|
|
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
|
|
|
NM_001082486.2(ACD):c.1206+4A>G
|
rs2142967211
|
|
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)
|
rs201907421
|
|
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
|
|
|
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
|
|
|
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
|
|
|
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val)
|
rs2052901178
|
|
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)
|
rs1476903915
|
|
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)
|
rs1281121095
|
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NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
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NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu)
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rs149418249
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NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
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NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
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NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
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NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
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rs1407657316
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NM_001082486.2(ACD):c.1298+1G>C
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rs2052898891
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NM_001082486.2(ACD):c.1299-19A>G
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NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
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NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)
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rs201926842
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NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
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NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
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NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
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NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)
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rs772312742
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NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
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NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
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NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)
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rs2142965523
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NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
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NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
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NM_001082486.2(ACD):c.139C>G (p.His47Asp)
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rs1057522813
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NM_001082486.2(ACD):c.140A>G (p.His47Arg)
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NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
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NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
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NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
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NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
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NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
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NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)
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rs779383442
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NM_001082486.2(ACD):c.194A>G (p.His65Arg)
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NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)
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rs748312961
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NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
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NM_001082486.2(ACD):c.242+5G>A
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NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
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NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
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NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
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NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
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NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
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NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
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NM_001082486.2(ACD):c.316C>T (p.Gln106Ter)
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rs2142974596
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NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
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NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
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NM_001082486.2(ACD):c.332G>A (p.Gly111Asp)
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rs2142974572
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NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
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NM_001082486.2(ACD):c.336+12G>A
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NM_001082486.2(ACD):c.340G>T (p.Ala114Ser)
|
rs377701284
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NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
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rs141113896
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NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
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NM_001082486.2(ACD):c.357G>C (p.Gln119His)
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rs2052958022
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NM_001082486.2(ACD):c.359dup (p.Asp121fs)
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NM_001082486.2(ACD):c.361G>C (p.Asp121His)
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NM_001082486.2(ACD):c.36G>A (p.Trp12Ter)
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rs1244950221
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NM_001082486.2(ACD):c.413+1G>C
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NM_001082486.2(ACD):c.425T>G (p.Leu142Ter)
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rs2142973399
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NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
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NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
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NM_001082486.2(ACD):c.43G>C (p.Glu15Gln)
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rs2142976000
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NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
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NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
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NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
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NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs)
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rs2142972519
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NM_001082486.2(ACD):c.493+6G>A
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rs2052945054
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NM_001082486.2(ACD):c.494-11C>G
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NM_001082486.2(ACD):c.494-5C>G
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NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
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NM_001082486.2(ACD):c.515T>C (p.Leu172Pro)
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rs2142971578
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NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
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NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)
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rs145007645
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NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
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rs145007645
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NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
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NM_001082486.2(ACD):c.536del (p.Gln179fs)
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rs2142971508
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NM_001082486.2(ACD):c.547G>A (p.Gly183Arg)
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rs2142971458
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NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
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NM_001082486.2(ACD):c.556G>A (p.Val186Met)
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NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
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NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
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NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
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NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
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NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
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NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
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NM_001082486.2(ACD):c.641C>T (p.Ala214Val)
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rs1306270247
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NM_001082486.2(ACD):c.645+10G>C
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NM_001082486.2(ACD):c.645+2T>C
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NM_001082486.2(ACD):c.646-20A>G
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NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
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NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup)
|
rs2142970611
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NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
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NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
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NM_001082486.2(ACD):c.676A>G (p.Met226Val)
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NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
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NM_001082486.2(ACD):c.702G>C (p.Gln234His)
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rs1202466632
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NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)
|
rs757807430
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NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
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|
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NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
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NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
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NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
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NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
|
rs1048865744
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NM_001082486.2(ACD):c.734G>C (p.Arg245Thr)
|
rs1048865744
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NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)
|
rs1555542235
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NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
|
rs1597770431
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NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
|
|
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NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
|
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NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
|
|
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NM_001082486.2(ACD):c.764A>G (p.Asp255Gly)
|
rs778481591
|
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NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
|
|
|
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
|
|
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NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
|
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|
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
|
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NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
|
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NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
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NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)
|
rs2052924182
|
|
NM_001082486.2(ACD):c.830-1G>A
|
rs1597769397
|
|
NM_001082486.2(ACD):c.830-2A>T
|
rs2142968890
|
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NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
|
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NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
|
|
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NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
|
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NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
|
|
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NM_001082486.2(ACD):c.878G>A (p.Ser293Asn)
|
rs2052917223
|
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NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
|
|
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NM_001082486.2(ACD):c.90G>C (p.Gln30His)
|
rs1242526760
|
|
NM_001082486.2(ACD):c.911C>T (p.Ala304Val)
|
rs2142968526
|
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NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
|
|
|
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
|
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NM_001082486.2(ACD):c.950_951del (p.Pro317fs)
|
rs2142968355
|
|
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)
|
rs2052915383
|
|
NM_001082486.2(ACD):c.965C>T (p.Ala322Val)
|
rs2142968307
|
|
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
|
|
|
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
|
rs777812658
|
|
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
|
rs777812658
|
|
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp)
|
rs973439601
|
|
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
|
|
|
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
|
|
|
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
|
|
|
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
|
|
|
NM_022914.2(ACD):c.11G>A (p.Arg4His)
|
|
|
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
|
|
|
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
|
|
|
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
|
|
|
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs)
|
rs764120026
|
|
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
|
|
|
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr)
|
rs1555542868
|
|
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
|
|
|
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
|
|
|
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
|
|
|
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
|
|
|
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
|
|
|
NM_022914.2(ACD):c.209C>T (p.Ala70Val)
|
rs758189246
|
|
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
|
|
|
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
|
|
|
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
|
|
|
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs)
|
rs757084527
|
|
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
|
|
|
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
|
|
|
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
|
|
|
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
|
|
|
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
|
|
|
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
|
|
|
NM_022914.2(ACD):c.98C>A (p.Pro33His)
|
|
|