NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006073.4(TRDN):c.1951+6C>A
|
rs781510666
|
0.00010
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)
|
rs200068375
|
0.00006
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
NM_006073.4(TRDN):c.484+6C>G
|
rs115773202
|
0.00005
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
NM_006073.4(TRDN):c.1322-10T>A
|
rs764565579
|
0.00004
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
NM_006073.4(TRDN):c.1671A>G (p.Pro557=)
|
rs935484433
|
0.00002
|
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter)
|
rs747836980
|
0.00002
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_006073.4(TRDN):c.1976-6C>G
|
rs368752139
|
0.00002
|
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)
|
rs756257644
|
0.00002
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)
|
rs769741426
|
0.00002
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)
|
rs1408332939
|
0.00002
|
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu)
|
rs761972576
|
0.00001
|
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr)
|
rs1781990629
|
0.00001
|
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg)
|
rs1259355217
|
0.00001
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile)
|
rs780744224
|
0.00001
|
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu)
|
rs768208179
|
0.00001
|
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn)
|
rs745563456
|
0.00001
|
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu)
|
rs771278361
|
0.00001
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
NM_006073.4(TRDN):c.128C>T (p.Thr43Met)
|
rs748832633
|
0.00001
|
NM_006073.4(TRDN):c.1321+1G>A
|
rs775407481
|
0.00001
|
NM_006073.4(TRDN):c.1321+2T>C
|
rs772232730
|
0.00001
|
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile)
|
rs748395950
|
0.00001
|
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu)
|
rs1779922492
|
0.00001
|
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn)
|
rs1323480717
|
0.00001
|
NM_006073.4(TRDN):c.1420+2T>C
|
rs1197905831
|
0.00001
|
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile)
|
rs1219920478
|
0.00001
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
NM_006073.4(TRDN):c.1537+5G>A
|
rs1418472166
|
0.00001
|
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys)
|
rs757355311
|
0.00001
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val)
|
rs1417883411
|
0.00001
|
NM_006073.4(TRDN):c.1660C>G (p.His554Asp)
|
rs749072053
|
0.00001
|
NM_006073.4(TRDN):c.1673-3C>G
|
rs762200112
|
0.00001
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu)
|
rs892905883
|
0.00001
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
NM_006073.4(TRDN):c.1805-2A>G
|
rs1417676099
|
0.00001
|
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu)
|
rs775485689
|
0.00001
|
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe)
|
rs1270608603
|
0.00001
|
NM_006073.4(TRDN):c.1870+5A>T
|
rs1041234944
|
0.00001
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg)
|
rs1179112140
|
0.00001
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)
|
rs1188001301
|
0.00001
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)
|
rs770748006
|
0.00001
|
NM_006073.4(TRDN):c.2092A>C (p.Asn698His)
|
rs777779916
|
0.00001
|
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)
|
rs751278695
|
0.00001
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
NM_006073.4(TRDN):c.232+6T>G
|
rs747825904
|
0.00001
|
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn)
|
rs566714157
|
0.00001
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp)
|
rs1433101332
|
0.00001
|
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp)
|
rs1781225730
|
0.00001
|
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr)
|
rs1218113277
|
0.00001
|
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys)
|
rs1386718060
|
0.00001
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.527A>T (p.Glu176Val)
|
rs1174526334
|
0.00001
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly)
|
rs969285752
|
0.00001
|
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp)
|
rs746983339
|
0.00001
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
NM_006073.4(TRDN):c.853+3A>G
|
rs372783263
|
0.00001
|
NM_006073.4(TRDN):c.853+6C>A
|
rs1331217957
|
0.00001
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)
|
rs750105528
|
0.00001
|
NM_006073.4(TRDN):c.931+6T>C
|
rs913713029
|
0.00001
|
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg)
|
rs1200632068
|
0.00001
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
NC_000006.11:g.(?_123539746)_(123833527_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)dup
|
|
|
NC_000006.11:g.(?_123573537)_(123573600_?)del
|
|
|
NC_000006.11:g.(?_123573537)_(123595835_?)del
|
|
|
NC_000006.11:g.(?_123580749)_(123595835_?)dup
|
|
|
NC_000006.11:g.(?_123581737)_(123581803_?)del
|
|
|
NC_000006.11:g.(?_123637582)_(123673751_?)dup
|
|
|
NC_000006.11:g.(?_123637592)_(123637650_?)del
|
|
|
NC_000006.11:g.(?_123653004)_(123658834_?)del
|
|
|
NC_000006.11:g.(?_123658744)_(123760168_?)dup
|
|
|
NC_000006.11:g.(?_123687260)_(123687347_?)del
|
|
|
NC_000006.11:g.(?_123703243)_(123703312_?)del
|
|
|
NC_000006.11:g.(?_123714759)_(123786138_?)dup
|
|
|
NC_000006.11:g.(?_123759188)_(123760168_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)dup
|
|
|
NC_000006.11:g.(?_123818318)_(123825066_?)del
|
|
|
NC_000006.11:g.(?_123833428)_(123837371_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123851730_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123868537_?)del
|
|
|
NC_000006.12:g.(?_123218591)_(123224141_?)del
|
|
|
NC_000006.12:g.(?_123438043)_(123465003_?)del
|
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NC_000006.12:g.(?_123497183)_(123512372_?)dup
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NC_000006.12:g.(?_123547330)_(123548622_?)del
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NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
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NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
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rs1459890032
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NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
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NM_006073.4(TRDN):c.1051+1G>A
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rs535908547
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NM_006073.4(TRDN):c.1051+1G>T
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rs535908547
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NM_006073.4(TRDN):c.1051+3A>T
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rs2114593121
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NM_006073.4(TRDN):c.1051+6G>T
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NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
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rs754708708
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NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
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rs754708708
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NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu)
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rs1230466120
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NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
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NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
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NM_006073.4(TRDN):c.1105+1del
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rs1772598763
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NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser)
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rs369198088
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NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys)
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rs1330602239
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NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly)
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rs2114443570
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NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
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NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu)
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rs1781747004
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NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
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rs1159691201
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NM_006073.4(TRDN):c.1166-1G>A
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rs1298986609
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NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
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rs1364039811
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NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn)
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rs6901953
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NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
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NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
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NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
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NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
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rs2114402336
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NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
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NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)
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rs17737379
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NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
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NM_006073.4(TRDN):c.1273+5G>A
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NM_006073.4(TRDN):c.1274-8A>G
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NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)
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rs1040336692
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NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)
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rs202219343
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NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)
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rs1582923790
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NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
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rs765757457
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NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala)
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rs2114357967
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NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
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rs370712881
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NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
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rs370712881
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NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser)
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rs1562280050
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NM_006073.4(TRDN):c.1321+1G>T
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NM_006073.4(TRDN):c.1321+1del
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rs754982716
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NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu)
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rs2114299923
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NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly)
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rs1488176228
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NM_006073.4(TRDN):c.1369+2del
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NM_006073.4(TRDN):c.1370-11_1370-10delinsAC
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rs1060502113
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NM_006073.4(TRDN):c.1370-15T>A
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NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
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rs1275202498
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NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr)
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rs1216864060
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NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter)
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rs1562267979
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NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
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NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu)
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rs1464407707
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NM_006073.4(TRDN):c.1421-13T>A
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NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
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NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr)
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rs1582882357
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NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp)
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rs2114727152
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NM_006073.4(TRDN):c.1454C>T (p.Ala485Val)
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rs1001289198
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NM_006073.4(TRDN):c.145G>C (p.Ala49Pro)
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rs1583264660
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NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
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NM_006073.4(TRDN):c.1488del (p.Asp497fs)
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NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter)
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rs1779027425
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NM_006073.4(TRDN):c.1499T>C (p.Met500Thr)
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rs1233338907
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NM_006073.4(TRDN):c.1510+1G>C
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NM_006073.4(TRDN):c.1510+5G>A
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rs1779025821
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NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg)
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rs1060502115
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NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
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NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
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rs757355311
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NM_006073.4(TRDN):c.1538-7T>G
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rs1777452285
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NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
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NM_006073.4(TRDN):c.1545A>C (p.Gln515His)
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rs1232728917
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NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
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rs2114626106
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NM_006073.4(TRDN):c.1576A>G (p.Ile526Val)
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rs375091695
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NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser)
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rs771612991
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NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
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rs1192853066
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NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
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NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
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NM_006073.4(TRDN):c.1600A>G (p.Ile534Val)
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rs1048725851
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NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs)
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rs1777268262
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NM_006073.4(TRDN):c.161T>C (p.Ile54Thr)
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rs1562396418
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NM_006073.4(TRDN):c.1623C>T (p.His541=)
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NM_006073.4(TRDN):c.1624+1G>C
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rs748011906
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NM_006073.4(TRDN):c.1624+6T>A
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NM_006073.4(TRDN):c.1625-3C>A
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NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)
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rs1777254669
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NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu)
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rs1036032456
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NM_006073.4(TRDN):c.164C>T (p.Ala55Val)
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rs1333255264
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NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
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NM_006073.4(TRDN):c.1661A>C (p.His554Pro)
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rs1777253805
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NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
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|
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NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)
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rs1554219406
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NM_006073.4(TRDN):c.1672+3A>G
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NM_006073.4(TRDN):c.1672+6T>C
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NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile)
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rs2114612744
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NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro)
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rs768555461
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NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
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NM_006073.4(TRDN):c.1692G>C (p.Gln564His)
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rs747107207
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NM_006073.4(TRDN):c.1693G>A (p.Val565Ile)
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rs565178454
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NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
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rs545470302
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NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
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NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
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NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter)
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rs754229275
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NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
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|
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NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser)
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rs2114606785
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NM_006073.4(TRDN):c.1794del (p.Lys598fs)
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rs1412913007
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NM_006073.4(TRDN):c.1804+2T>C
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rs2114598453
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NM_006073.4(TRDN):c.1804+6T>C
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NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter)
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rs2114598456
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NM_006073.4(TRDN):c.1805-6_1805-4delinsT
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rs1776731846
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NM_006073.4(TRDN):c.1806del (p.Gly603fs)
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rs1381728472
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NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
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NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly)
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rs1211286909
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NM_006073.4(TRDN):c.1871-2A>G
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rs1483354092
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NM_006073.4(TRDN):c.1871-9T>A
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rs1489256531
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NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr)
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rs1776539318
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NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg)
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rs1776539318
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NM_006073.4(TRDN):c.1875dup (p.Ala626fs)
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rs780443277
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NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu)
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rs1776538992
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NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys)
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rs1776538236
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NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
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rs750469686
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NM_006073.4(TRDN):c.1906+6T>C
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rs1562232511
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NM_006073.4(TRDN):c.1906+6T>G
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rs1562232511
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NM_006073.4(TRDN):c.1907-3C>T
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NM_006073.4(TRDN):c.1907-6T>G
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NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg)
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rs1168548735
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NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
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NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
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NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
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NM_006073.4(TRDN):c.1938C>A (p.His646Gln)
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rs1582782548
|
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NM_006073.4(TRDN):c.1952-1G>A
|
rs2114570771
|
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NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)
|
rs1776405797
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
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NM_006073.4(TRDN):c.1975+14G>C
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|
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NM_006073.4(TRDN):c.1975+4del
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rs763953757
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NM_006073.4(TRDN):c.1975+8C>A
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rs754046696
|
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NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
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|
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NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr)
|
rs748450167
|
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NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp)
|
rs878854816
|
|
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln)
|
rs2114505384
|
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NM_006073.4(TRDN):c.2014+6T>G
|
rs2114505362
|
|
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)
|
rs2114505372
|
|
NM_006073.4(TRDN):c.2015-6C>A
|
rs1244486423
|
|
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)
|
rs1775146927
|
|
NM_006073.4(TRDN):c.2050+1G>A
|
rs1295530677
|
|
NM_006073.4(TRDN):c.2050+2T>C
|
rs758127975
|
|
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)
|
rs2114492427
|
|
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
|
|
|
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)
|
rs777779916
|
|
NM_006073.4(TRDN):c.2096del (p.Gly699fs)
|
rs772899515
|
|
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)
|
rs1390830578
|
|
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
|
|
|
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
|
|
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NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
|
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NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)
|
rs2114492200
|
|
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)
|
rs2114492194
|
|
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
|
|
|
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
|
|
|
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu)
|
rs1782541809
|
|
NM_006073.4(TRDN):c.231A>G (p.Ser77=)
|
rs2114537218
|
|
NM_006073.4(TRDN):c.232+6T>C
|
rs747825904
|
|
NM_006073.4(TRDN):c.233-11A>G
|
|
|
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
|
|
|
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
|
|
|
NM_006073.4(TRDN):c.274G>T (p.Val92Leu)
|
rs34808221
|
|
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
|
|
|
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
|
|
|
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
NM_006073.4(TRDN):c.307A>G (p.Ile103Val)
|
rs535845814
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr)
|
rs768047321
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly)
|
rs2114436566
|
|
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del)
|
rs746889615
|
|
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg)
|
rs1245170587
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys)
|
rs1562379256
|
|
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile)
|
rs2114538213
|
|
NM_006073.4(TRDN):c.425-11T>G
|
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
|
|
|
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr)
|
rs1780197036
|
|
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg)
|
rs2114339102
|
|
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys)
|
rs902398250
|
|
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del)
|
rs1271763031
|
|
NM_006073.4(TRDN):c.484+6C>T
|
rs115773202
|
|
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
|
|
|
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr)
|
rs1583264951
|
|
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
|
|
|
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1])
|
rs1319934569
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
|
|
|
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr)
|
rs576028226
|
|
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn)
|
rs1205195262
|
|
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
|
|
|
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu)
|
rs1277590915
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
|
|
|
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu)
|
rs1562351485
|
|
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter)
|
rs2114833320
|
|
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
|
|
|
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
|
|
|
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
|
|
|
NM_006073.4(TRDN):c.721C>T (p.Gln241Ter)
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu)
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rs2114833012
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NM_006073.4(TRDN):c.744del (p.Glu249fs)
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NM_006073.4(TRDN):c.750G>T (p.Lys250Asn)
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rs138912040
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NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
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NM_006073.4(TRDN):c.790A>G (p.Lys264Glu)
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rs574484615
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NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
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NM_006073.4(TRDN):c.798G>C (p.Gln266His)
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rs1562347184
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NM_006073.4(TRDN):c.802G>A (p.Ala268Thr)
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rs1223374508
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NM_006073.4(TRDN):c.803C>T (p.Ala268Val)
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rs1465535140
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NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
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NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr)
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rs1778487507
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NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
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rs770488451
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NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
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NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
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NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
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NM_006073.4(TRDN):c.833T>C (p.Val278Ala)
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rs954714094
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NM_006073.4(TRDN):c.836A>G (p.His279Arg)
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rs1251196961
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NM_006073.4(TRDN):c.839G>A (p.Gly280Glu)
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rs903971281
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NM_006073.4(TRDN):c.840G>T (p.Gly280=)
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NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
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NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
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NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
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NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)
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rs530972011
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NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
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NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)
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rs2114709180
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NM_006073.4(TRDN):c.90A>T (p.Lys30Asn)
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rs2114537932
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NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
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NM_006073.4(TRDN):c.923C>T (p.Ala308Val)
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rs1776696081
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NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
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NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
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NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del)
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rs1774734616
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NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
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NM_006073.4(TRDN):c.94C>A (p.Leu32Met)
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rs755548582
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NM_006073.4(TRDN):c.984A>T (p.Lys328Asn)
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rs1774733806
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NM_006073.4(TRDN):c.9G>C (p.Glu3Asp)
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rs1185669572
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