NM_000391.4(TPP1):c.1075+28T>C
|
rs7943955
|
0.98952
|
NM_000391.4(TPP1):c.*1628G>A
|
rs7488
|
0.76311
|
NM_000391.4(TPP1):c.508+26T>A
|
rs1800738
|
0.47213
|
NM_000391.4(TPP1):c.*1588C>T
|
rs7487
|
0.44955
|
NM_000391.4(TPP1):c.*1118G>C
|
rs1045450
|
0.27054
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_000391.4(TPP1):c.1075+42C>T
|
rs2072651
|
0.18683
|
NM_000391.4(TPP1):c.1426-78T>C
|
rs1800723
|
0.15684
|
NM_000391.4(TPP1):c.687+32T>C
|
rs1800710
|
0.08743
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_000391.4(TPP1):c.*71G>A
|
rs140680586
|
0.01221
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00817
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_000391.4(TPP1):c.*986C>G
|
rs188148381
|
0.00455
|
NM_000391.4(TPP1):c.*1540T>C
|
rs374146578
|
0.00387
|
NM_000391.4(TPP1):c.1396G>A (p.Val466Met)
|
rs78970155
|
0.00339
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00324
|
NM_000391.4(TPP1):c.381-23G>T
|
rs181191327
|
0.00312
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_000391.4(TPP1):c.*1250T>A
|
rs193029892
|
0.00215
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_000391.4(TPP1):c.*1570C>T
|
rs369352772
|
0.00175
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
NM_000391.4(TPP1):c.*829C>T
|
rs533616443
|
0.00062
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_000391.4(TPP1):c.*1282C>A
|
rs1032115129
|
0.00042
|
NM_000391.4(TPP1):c.*312T>C
|
rs201122774
|
0.00041
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro)
|
rs150039898
|
0.00031
|
NM_000391.4(TPP1):c.*241T>C
|
rs74843914
|
0.00029
|
NM_000391.4(TPP1):c.776G>A (p.Arg259His)
|
rs140176031
|
0.00027
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
NM_000391.4(TPP1):c.*223T>C
|
rs538963672
|
0.00021
|
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)
|
rs143584882
|
0.00021
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_000391.4(TPP1):c.*1774G>A
|
rs886048532
|
0.00015
|
NM_000391.4(TPP1):c.330G>A (p.Lys110=)
|
rs145853102
|
0.00014
|
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser)
|
rs139343938
|
0.00013
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000391.4(TPP1):c.*346A>G
|
rs149218047
|
0.00010
|
NM_000391.4(TPP1):c.*1478T>A
|
rs775934269
|
0.00009
|
NM_000391.4(TPP1):c.*704C>T
|
rs1033619913
|
0.00009
|
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)
|
rs121908197
|
0.00009
|
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)
|
rs145966505
|
0.00008
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_000391.4(TPP1):c.859A>G (p.Ile287Val)
|
rs578253592
|
0.00007
|
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)
|
rs149463616
|
0.00007
|
NM_000391.4(TPP1):c.*1428T>C
|
rs188544089
|
0.00006
|
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser)
|
rs368435226
|
0.00006
|
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
|
rs374132017
|
0.00006
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys)
|
rs750241218
|
0.00006
|
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser)
|
rs372787642
|
0.00006
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000391.4(TPP1):c.1125C>T (p.Arg375=)
|
rs587780972
|
0.00005
|
NM_000391.4(TPP1):c.1425G>A (p.Ser475=)
|
rs779333902
|
0.00005
|
NM_000391.4(TPP1):c.1490G>A (p.Arg497His)
|
rs549928656
|
0.00005
|
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp)
|
rs200880556
|
0.00005
|
NM_000391.4(TPP1):c.807C>T (p.Ala269=)
|
rs148222726
|
0.00005
|
NM_000391.4(TPP1):c.*785T>G
|
rs764323122
|
0.00004
|
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)
|
rs146927291
|
0.00004
|
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr)
|
rs1085307673
|
0.00004
|
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp)
|
rs778900807
|
0.00004
|
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys)
|
rs377700188
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp)
|
rs771113565
|
0.00004
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
NM_000391.4(TPP1):c.438G>A (p.Thr146=)
|
rs777339172
|
0.00004
|
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu)
|
rs550590502
|
0.00004
|
NM_000391.4(TPP1):c.770T>C (p.Val257Ala)
|
rs763009524
|
0.00004
|
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)
|
rs757953998
|
0.00004
|
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
|
rs553122824
|
0.00004
|
NM_000391.4(TPP1):c.*44T>A
|
rs370517226
|
0.00003
|
NM_000391.4(TPP1):c.1116C>G (p.His372Gln)
|
rs751321300
|
0.00003
|
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys)
|
rs780670020
|
0.00003
|
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser)
|
rs751645191
|
0.00003
|
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala)
|
rs201126448
|
0.00003
|
NM_000391.4(TPP1):c.1551+5G>A
|
rs778756815
|
0.00003
|
NM_000391.4(TPP1):c.1559G>A (p.Arg520His)
|
rs368697480
|
0.00003
|
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu)
|
rs760252179
|
0.00003
|
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln)
|
rs141920079
|
0.00003
|
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)
|
rs763162812
|
0.00003
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000391.4(TPP1):c.*1560C>T
|
rs541932361
|
0.00002
|
NM_000391.4(TPP1):c.*984T>A
|
rs1000719227
|
0.00002
|
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg)
|
rs756237773
|
0.00002
|
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn)
|
rs761448855
|
0.00002
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr)
|
rs748533410
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr)
|
rs1421089514
|
0.00002
|
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
|
rs121908195
|
0.00002
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile)
|
rs751704816
|
0.00002
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
NM_000391.4(TPP1):c.782T>C (p.Val261Ala)
|
rs146136938
|
0.00002
|
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu)
|
rs775155638
|
0.00002
|
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)
|
rs369126677
|
0.00002
|
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)
|
rs796053441
|
0.00002
|
NM_000391.4(TPP1):c.90-3C>T
|
rs767078570
|
0.00002
|
NM_000391.4(TPP1):c.956A>G (p.His319Arg)
|
rs745310554
|
0.00002
|
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)
|
rs773946638
|
0.00002
|
NM_000391.4(TPP1):c.*1634T>C
|
rs886048534
|
0.00001
|
NM_000391.4(TPP1):c.*171T>C
|
rs953806091
|
0.00001
|
NM_000391.4(TPP1):c.*716C>A
|
rs957511928
|
0.00001
|
NM_000391.4(TPP1):c.*937C>T
|
rs1339024138
|
0.00001
|
NM_000391.4(TPP1):c.-21G>A
|
rs760667554
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr)
|
rs764077257
|
0.00001
|
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln)
|
rs199866669
|
0.00001
|
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)
|
rs1266615275
|
0.00001
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)
|
rs368914445
|
0.00001
|
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)
|
rs190013230
|
0.00001
|
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys)
|
rs794727482
|
0.00001
|
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe)
|
rs149319579
|
0.00001
|
NM_000391.4(TPP1):c.119G>A (p.Arg40His)
|
rs549309216
|
0.00001
|
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)
|
rs1471156821
|
0.00001
|
NM_000391.4(TPP1):c.1266+4C>T
|
rs777551142
|
0.00001
|
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln)
|
rs780656523
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu)
|
rs1300168808
|
0.00001
|
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)
|
rs121908203
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)
|
rs1245220130
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1552-14A>C
|
rs1006965532
|
0.00001
|
NM_000391.4(TPP1):c.1552-1G>A
|
rs1057516511
|
0.00001
|
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)
|
rs375364589
|
0.00001
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys)
|
rs755878872
|
0.00001
|
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
|
rs1315730321
|
0.00001
|
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)
|
rs1348967263
|
0.00001
|
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)
|
rs751088292
|
0.00001
|
NM_000391.4(TPP1):c.202G>A (p.Val68Met)
|
rs776937435
|
0.00001
|
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
|
rs775780584
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.230-8C>A
|
rs537703785
|
0.00001
|
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser)
|
rs535584300
|
0.00001
|
NM_000391.4(TPP1):c.294G>A (p.Thr98=)
|
rs141417655
|
0.00001
|
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe)
|
rs796053445
|
0.00001
|
NM_000391.4(TPP1):c.435T>C (p.Pro145=)
|
rs188822344
|
0.00001
|
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro)
|
rs757507462
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000391.4(TPP1):c.508+10A>G
|
rs765877652
|
0.00001
|
NM_000391.4(TPP1):c.509-6C>G
|
rs778046473
|
0.00001
|
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg)
|
rs994636765
|
0.00001
|
NM_000391.4(TPP1):c.51C>G (p.Gly17=)
|
rs755019471
|
0.00001
|
NM_000391.4(TPP1):c.524G>A (p.Arg175His)
|
rs764922748
|
0.00001
|
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro)
|
rs1481131397
|
0.00001
|
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)
|
rs28940573
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000391.4(TPP1):c.687+6C>T
|
rs768924191
|
0.00001
|
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
|
rs754161261
|
0.00001
|
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)
|
rs748038934
|
0.00001
|
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp)
|
rs778410642
|
0.00001
|
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr)
|
rs766541487
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro)
|
rs1191799507
|
0.00001
|
NM_000391.4(TPP1):c.968T>C (p.Val323Ala)
|
rs770155767
|
0.00001
|
NM_000391.4(TPP1):c.993C>T (p.Ser331=)
|
rs1855585414
|
0.00001
|
NM_000391.4(TPP1):c.*1000T>C
|
rs886048538
|
|
NM_000391.4(TPP1):c.*1108T>C
|
rs1855527274
|
|
NM_000391.4(TPP1):c.*124C>T
|
rs985151429
|
|
NM_000391.4(TPP1):c.*1302A>T
|
rs886048537
|
|
NM_000391.4(TPP1):c.*1311C>T
|
rs886048536
|
|
NM_000391.4(TPP1):c.*1508G>A
|
rs561558362
|
|
NM_000391.4(TPP1):c.*1741G>T
|
rs1299016829
|
|
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
|
|
|
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)
|
rs765380155
|
|
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
|
|
|
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)
|
rs1554901785
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro)
|
rs121908206
|
|
NM_000391.4(TPP1):c.1075+2T>C
|
rs1855583482
|
|
NM_000391.4(TPP1):c.1075+5C>T
|
rs1242288949
|
|
NM_000391.4(TPP1):c.1076-1G>A
|
rs1554901731
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1076-2A>T
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter)
|
rs1564854729
|
|
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
|
|
|
NM_000391.4(TPP1):c.1116C>T (p.His372=)
|
rs751321300
|
|
NM_000391.4(TPP1):c.1145+1G>A
|
rs113019349
|
|
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
|
rs761448855
|
|
NM_000391.4(TPP1):c.1146-199G>A
|
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)
|
rs121908198
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg)
|
|
|
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
|
|
|
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
|
|
|
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)
|
rs567523850
|
|
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
|
|
|
NM_000391.4(TPP1):c.1243G>A (p.Val415Met)
|
rs2134591998
|
|
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
|
|
|
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)
|
rs1057516319
|
|
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA
|
|
|
NM_000391.4(TPP1):c.1267-56_1267-37del
|
rs1554901606
|
|
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser)
|
rs769487055
|
|
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser)
|
rs1420637772
|
|
NM_000391.4(TPP1):c.1303C>G (p.His435Asp)
|
rs755829911
|
|
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)
|
rs2134598107
|
|
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)
|
rs1554901580
|
|
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)
|
rs119455956
|
|
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)
|
rs1589947644
|
|
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)
|
rs121908201
|
|
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)
|
rs1554901576
|
|
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)
|
rs864309505
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs)
|
rs1407106889
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
NM_000391.4(TPP1):c.1434T>C (p.Thr478=)
|
rs1855555887
|
|
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg)
|
rs121908208
|
|
NM_000391.4(TPP1):c.1449del (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
|
|
|
NM_000391.4(TPP1):c.147del (p.Thr50fs)
|
|
|
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)
|
rs201126448
|
|
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg)
|
rs773707856
|
|
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu)
|
rs773707856
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)
|
rs763961289
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1G>T
|
rs786204553
|
|
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
|
rs371204585
|
|
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys)
|
rs1157546558
|
|
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)
|
rs1554901472
|
|
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr)
|
rs777744177
|
|
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)
|
rs1554901463
|
|
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)
|
rs2134590423
|
|
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser)
|
rs121908210
|
|
NM_000391.4(TPP1):c.1661dup (p.Ala555fs)
|
rs1057516579
|
|
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)
|
rs759664259
|
|
NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro)
|
|
|
NM_000391.4(TPP1):c.17+1G>A
|
rs779615685
|
|
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
|
rs1589949717
|
|
NM_000391.4(TPP1):c.18-5T>C
|
rs1855634037
|
|
NM_000391.4(TPP1):c.18-7C>T
|
rs1855634111
|
|
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)
|
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.184del (p.Ser62fs)
|
rs1554902217
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
NM_000391.4(TPP1):c.230-1G>C
|
rs1057516667
|
|
NM_000391.4(TPP1):c.230-2A>G
|
|
|
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)
|
rs1564855860
|
|
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
|
|
|
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
|
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.35C>T (p.Ala12Val)
|
rs1855633689
|
|
NM_000391.4(TPP1):c.380+5G>A
|
rs1564855725
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter)
|
rs1554902043
|
|
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)
|
rs869025274
|
|
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)
|
rs1554902028
|
|
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)
|
rs878855331
|
|
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)
|
rs553522118
|
|
NM_000391.4(TPP1):c.497A>T (p.His166Leu)
|
rs796053437
|
|
NM_000391.4(TPP1):c.508+2dup
|
rs1554902017
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-8C>A
|
rs771299096
|
|
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg)
|
rs1368354280
|
|
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)
|
rs149986601
|
|
NM_000391.4(TPP1):c.533del (p.Pro178fs)
|
rs1855599044
|
|
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)
|
rs1488047336
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.609dup (p.Val204fs)
|
rs1057516366
|
|
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
|
|
|
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
|
|
|
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)
|
rs752164603
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
|
|
|
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)
|
rs202025584
|
|
NM_000391.4(TPP1):c.687+1G>C
|
rs1465284719
|
|
NM_000391.4(TPP1):c.687+2T>G
|
rs1057516945
|
|
NM_000391.4(TPP1):c.688-1G>T
|
rs1855593862
|
|
NM_000391.4(TPP1):c.689del (p.Phe230fs)
|
rs1554901898
|
|
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
|
rs1326646704
|
|
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)
|
rs1554901895
|
|
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys)
|
rs587780481
|
|
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu)
|
rs1855592796
|
|
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
|
|
|
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
|
rs1356628460
|
|
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
|
|
|
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn)
|
rs1324731086
|
|
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)
|
rs1405952769
|
|
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg)
|
rs561854371
|
|
NM_000391.4(TPP1):c.819del (p.Ser274fs)
|
rs1057517313
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)
|
rs796053439
|
|
NM_000391.4(TPP1):c.843G>A (p.Met281Ile)
|
rs776489592
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn)
|
rs121908196
|
|
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
|
|
|
NM_000391.4(TPP1):c.886+5del
|
rs1855590004
|
|
NM_000391.4(TPP1):c.886+7C>T
|
rs886048543
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-7_887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-8_887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala)
|
rs1855632314
|
|
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg)
|
rs1564855000
|
|
NM_000391.4(TPP1):c.899del (p.Gly300fs)
|
rs2134593910
|
|
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
|
|
|
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000391.4(TPP1):c.987_989del (p.Glu329del)
|
rs1222920812
|
|
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr)
|
rs755386210
|
|
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe)
|
rs755386210
|
|