NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
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.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.1076-18A>G
|
rs78676565
|
0.00826
|
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.42C>A (p.Ile14=)
|
rs35903915
|
0.00419
|
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.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_000391.4(TPP1):c.688-7T>A
|
rs375262484
|
0.00194
|
NM_000391.4(TPP1):c.1497T>C (p.Pro499=)
|
rs142672910
|
0.00170
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
NM_000391.4(TPP1):c.887-11A>G
|
rs1183056704
|
0.00089
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
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.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_000391.4(TPP1):c.513G>T (p.Gly171=)
|
rs145224171
|
0.00039
|
NM_000391.4(TPP1):c.688-18C>T
|
rs376868997
|
0.00038
|
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.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.1086G>A (p.Gly362=)
|
rs140809393
|
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.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.318C>T (p.Ala106=)
|
rs774528021
|
0.00010
|
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.1323C>T (p.Tyr441=)
|
rs757548236
|
0.00007
|
NM_000391.4(TPP1):c.1383G>A (p.Val461=)
|
rs202190396
|
0.00007
|
NM_000391.4(TPP1):c.645C>T (p.Asp215=)
|
rs766845531
|
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.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.509-5T>C
|
rs375548657
|
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.741C>T (p.Phe247=)
|
rs372817942
|
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.530C>T (p.Pro177Leu)
|
rs753351050
|
0.00005
|
NM_000391.4(TPP1):c.6A>T (p.Gly2=)
|
rs747594496
|
0.00005
|
NM_000391.4(TPP1):c.807C>T (p.Ala269=)
|
rs148222726
|
0.00005
|
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)
|
rs146927291
|
0.00004
|
NM_000391.4(TPP1):c.1007A>G (p.Tyr336Cys)
|
rs758649621
|
0.00004
|
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr)
|
rs1085307673
|
0.00004
|
NM_000391.4(TPP1):c.1068C>T (p.Phe356=)
|
rs769297657
|
0.00004
|
NM_000391.4(TPP1):c.1218T>C (p.Tyr406=)
|
rs747179298
|
0.00004
|
NM_000391.4(TPP1):c.126C>T (p.Asp42=)
|
rs780057326
|
0.00004
|
NM_000391.4(TPP1):c.1335T>C (p.Ser445=)
|
rs150872335
|
0.00004
|
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp)
|
rs778900807
|
0.00004
|
NM_000391.4(TPP1):c.1407A>G (p.Pro469=)
|
rs750546113
|
0.00004
|
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys)
|
rs377700188
|
0.00004
|
NM_000391.4(TPP1):c.1551+8T>C
|
rs757218133
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.228C>T (p.Tyr76=)
|
rs373318861
|
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.509-3C>T
|
rs748156385
|
0.00004
|
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu)
|
rs550590502
|
0.00004
|
NM_000391.4(TPP1):c.687+18C>T
|
rs775435795
|
0.00004
|
NM_000391.4(TPP1):c.706C>T (p.His236Tyr)
|
rs1414373834
|
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.1089C>T (p.Ala363=)
|
rs151068181
|
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.1266+8T>C
|
rs752269166
|
0.00003
|
NM_000391.4(TPP1):c.1416C>T (p.Ser472=)
|
rs773086052
|
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.1558C>A (p.Arg520Ser)
|
rs371204585
|
0.00003
|
NM_000391.4(TPP1):c.1559G>A (p.Arg520His)
|
rs368697480
|
0.00003
|
NM_000391.4(TPP1):c.18-10G>T
|
rs778206032
|
0.00003
|
NM_000391.4(TPP1):c.267G>A (p.Val89=)
|
rs746660467
|
0.00003
|
NM_000391.4(TPP1):c.340G>A (p.Val114Met)
|
rs552111650
|
0.00003
|
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn)
|
rs753509905
|
0.00003
|
NM_000391.4(TPP1):c.554G>A (p.Arg185His)
|
rs773455971
|
0.00003
|
NM_000391.4(TPP1):c.688-4A>G
|
rs370683758
|
0.00003
|
NM_000391.4(TPP1):c.75C>T (p.Pro25=)
|
rs902447645
|
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.891G>T (p.Arg297=)
|
rs750527536
|
0.00003
|
NM_000391.4(TPP1):c.90-12C>A
|
rs1213636631
|
0.00003
|
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.122C>T (p.Ala41Val)
|
rs768795654
|
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.1461G>C (p.Leu487Phe)
|
rs532438658
|
0.00002
|
NM_000391.4(TPP1):c.1470G>C (p.Glu490Asp)
|
rs367681647
|
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.230-20C>T
|
rs761017539
|
0.00002
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
NM_000391.4(TPP1):c.465T>C (p.His155=)
|
rs778947332
|
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.657C>T (p.Gly219=)
|
rs773514151
|
0.00002
|
NM_000391.4(TPP1):c.735C>T (p.Arg245=)
|
rs376072689
|
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.930G>C (p.Leu310=)
|
rs760531038
|
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.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr)
|
rs764077257
|
0.00001
|
NM_000391.4(TPP1):c.1035G>A (p.Met345Ile)
|
rs760406360
|
0.00001
|
NM_000391.4(TPP1):c.1041T>C (p.Ala347=)
|
rs775269391
|
0.00001
|
NM_000391.4(TPP1):c.1043C>A (p.Ala348Asp)
|
rs370144405
|
0.00001
|
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln)
|
rs199866669
|
0.00001
|
NM_000391.4(TPP1):c.1053T>C (p.Gly351=)
|
rs1035964173
|
0.00001
|
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)
|
rs1266615275
|
0.00001
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
NM_000391.4(TPP1):c.1076-7C>T
|
rs746276384
|
0.00001
|
NM_000391.4(TPP1):c.1092G>A (p.Gly364=)
|
rs1327548740
|
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.1131C>G (p.Thr377=)
|
rs1444283440
|
0.00001
|
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)
|
rs190013230
|
0.00001
|
NM_000391.4(TPP1):c.1145+13G>A
|
rs1855574083
|
0.00001
|
NM_000391.4(TPP1):c.1145+3A>G
|
rs760845164
|
0.00001
|
NM_000391.4(TPP1):c.1146-18G>A
|
rs72909098
|
0.00001
|
NM_000391.4(TPP1):c.1146-7C>T
|
rs1270176452
|
0.00001
|
NM_000391.4(TPP1):c.1162G>A (p.Val388Met)
|
rs1855567562
|
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.1222_1224del (p.Ser408del)
|
rs1474804613
|
0.00001
|
NM_000391.4(TPP1):c.1225G>A (p.Gly409Ser)
|
rs1429220241
|
0.00001
|
NM_000391.4(TPP1):c.1228G>A (p.Gly410Ser)
|
rs1239937973
|
0.00001
|
NM_000391.4(TPP1):c.123G>A (p.Ala41=)
|
rs747260298
|
0.00001
|
NM_000391.4(TPP1):c.124G>T (p.Asp42Tyr)
|
rs1231987689
|
0.00001
|
NM_000391.4(TPP1):c.1254G>A (p.Arg418=)
|
rs1201568521
|
0.00001
|
NM_000391.4(TPP1):c.1260A>G (p.Ser420=)
|
rs770900822
|
0.00001
|
NM_000391.4(TPP1):c.1266+4C>T
|
rs777551142
|
0.00001
|
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala)
|
rs1314595290
|
0.00001
|
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln)
|
rs780656523
|
0.00001
|
NM_000391.4(TPP1):c.1299C>T (p.Ser433=)
|
rs1855562311
|
0.00001
|
NM_000391.4(TPP1):c.1302C>T (p.Pro434=)
|
rs1176517419
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000391.4(TPP1):c.133G>A (p.Glu45Lys)
|
rs772163356
|
0.00001
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
NM_000391.4(TPP1):c.135A>G (p.Glu45=)
|
rs746004484
|
0.00001
|
NM_000391.4(TPP1):c.1362A>G (p.Ala454=)
|
rs141701073
|
0.00001
|
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp)
|
rs1855560526
|
0.00001
|
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu)
|
rs1300168808
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000391.4(TPP1):c.139C>T (p.Leu47=)
|
rs1057523084
|
0.00001
|
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)
|
rs121908203
|
0.00001
|
NM_000391.4(TPP1):c.1425+20C>T
|
rs778177640
|
0.00001
|
NM_000391.4(TPP1):c.1426-17C>T
|
rs771531162
|
0.00001
|
NM_000391.4(TPP1):c.1426-6T>C
|
rs1403730443
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)
|
rs1192702664
|
0.00001
|
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)
|
rs1245220130
|
0.00001
|
NM_000391.4(TPP1):c.1465A>G (p.Asn489Asp)
|
rs1198144212
|
0.00001
|
NM_000391.4(TPP1):c.147C>T (p.Leu49=)
|
rs757158698
|
0.00001
|
NM_000391.4(TPP1):c.1491C>G (p.Arg497=)
|
rs1330785262
|
0.00001
|
NM_000391.4(TPP1):c.1503C>A (p.Gly501=)
|
rs1408208445
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1533T>C (p.His511=)
|
rs1369971085
|
0.00001
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
NM_000391.4(TPP1):c.1551+19G>A
|
rs753821314
|
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.1554A>G (p.Val518=)
|
rs1315475423
|
0.00001
|
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)
|
rs375364589
|
0.00001
|
NM_000391.4(TPP1):c.1592T>C (p.Val531Ala)
|
rs757367088
|
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.1614T>A (p.Ser538=)
|
rs55684773
|
0.00001
|
NM_000391.4(TPP1):c.1634T>C (p.Val545Ala)
|
rs752436484
|
0.00001
|
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
|
rs1315730321
|
0.00001
|
NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser)
|
rs868090227
|
0.00001
|
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)
|
rs777267276
|
0.00001
|
NM_000391.4(TPP1):c.1683C>T (p.Leu561=)
|
rs1262431914
|
0.00001
|
NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser)
|
rs1207993020
|
0.00001
|
NM_000391.4(TPP1):c.171T>C (p.Asn57=)
|
rs1855625241
|
0.00001
|
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg)
|
rs1060502179
|
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.207G>A (p.Ser69=)
|
rs761070664
|
0.00001
|
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
|
rs775780584
|
0.00001
|
NM_000391.4(TPP1):c.229+8T>C
|
rs1263525920
|
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.26G>T (p.Gly9Val)
|
rs748423428
|
0.00001
|
NM_000391.4(TPP1):c.274del (p.Ser92fs)
|
rs1064793806
|
0.00001
|
NM_000391.4(TPP1):c.275C>A (p.Ser92Tyr)
|
rs771957036
|
0.00001
|
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser)
|
rs535584300
|
0.00001
|
NM_000391.4(TPP1):c.289C>T (p.His97Tyr)
|
rs1341517000
|
0.00001
|
NM_000391.4(TPP1):c.290A>G (p.His97Arg)
|
rs1855608104
|
0.00001
|
NM_000391.4(TPP1):c.294G>A (p.Thr98=)
|
rs141417655
|
0.00001
|
NM_000391.4(TPP1):c.297G>A (p.Val99=)
|
rs753066277
|
0.00001
|
NM_000391.4(TPP1):c.300A>C (p.Gln100His)
|
rs1169280756
|
0.00001
|
NM_000391.4(TPP1):c.309C>T (p.Leu103=)
|
rs774408040
|
0.00001
|
NM_000391.4(TPP1):c.321A>G (p.Gly107=)
|
rs776434116
|
0.00001
|
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)
|
rs1589948943
|
0.00001
|
NM_000391.4(TPP1):c.380+3G>A
|
rs781744173
|
0.00001
|
NM_000391.4(TPP1):c.381-4C>G
|
rs529421892
|
0.00001
|
NM_000391.4(TPP1):c.381-7C>T
|
rs1435709457
|
0.00001
|
NM_000391.4(TPP1):c.431G>A (p.Gly144Glu)
|
rs1367914404
|
0.00001
|
NM_000391.4(TPP1):c.433C>G (p.Pro145Ala)
|
rs1273909575
|
0.00001
|
NM_000391.4(TPP1):c.435T>C (p.Pro145=)
|
rs188822344
|
0.00001
|
NM_000391.4(TPP1):c.449T>C (p.Val150Ala)
|
rs780755290
|
0.00001
|
NM_000391.4(TPP1):c.461C>T (p.Pro154Leu)
|
rs746299333
|
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.4G>C (p.Gly2Arg)
|
rs769552465
|
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.509T>C (p.Val170Ala)
|
rs910982505
|
0.00001
|
NM_000391.4(TPP1):c.510G>T (p.Val170=)
|
rs751488322
|
0.00001
|
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg)
|
rs994636765
|
0.00001
|
NM_000391.4(TPP1):c.512G>A (p.Gly171Glu)
|
rs779895571
|
0.00001
|
NM_000391.4(TPP1):c.519G>T (p.Leu173=)
|
rs1855599396
|
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.534A>G (p.Pro178=)
|
rs774921716
|
0.00001
|
NM_000391.4(TPP1):c.549G>A (p.Arg183=)
|
rs1855598829
|
0.00001
|
NM_000391.4(TPP1):c.556C>T (p.Pro186Ser)
|
rs1855598679
|
0.00001
|
NM_000391.4(TPP1):c.564G>A (p.Pro188=)
|
rs748389153
|
0.00001
|
NM_000391.4(TPP1):c.579T>C (p.Thr193=)
|
rs1855598401
|
0.00001
|
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro)
|
rs1481131397
|
0.00001
|
NM_000391.4(TPP1):c.606C>T (p.Pro202=)
|
rs768687217
|
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.624A>T (p.Arg208=)
|
rs757167692
|
0.00001
|
NM_000391.4(TPP1):c.636C>G (p.Thr212=)
|
rs763910597
|
0.00001
|
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg)
|
rs1330875156
|
0.00001
|
NM_000391.4(TPP1):c.650G>T (p.Gly217Val)
|
rs975304153
|
0.00001
|
NM_000391.4(TPP1):c.687+6C>T
|
rs768924191
|
0.00001
|
NM_000391.4(TPP1):c.688-10C>T
|
rs747731043
|
0.00001
|
NM_000391.4(TPP1):c.69G>A (p.Pro23=)
|
rs141680923
|
0.00001
|
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
|
rs754161261
|
0.00001
|
NM_000391.4(TPP1):c.742G>A (p.Gly248Ser)
|
rs1000290348
|
0.00001
|
NM_000391.4(TPP1):c.753T>C (p.Phe251=)
|
rs752859219
|
0.00001
|
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser)
|
rs773247372
|
0.00001
|
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)
|
rs748038934
|
0.00001
|
NM_000391.4(TPP1):c.795C>T (p.Gly265=)
|
rs1351326788
|
0.00001
|
NM_000391.4(TPP1):c.800G>A (p.Gly267Asp)
|
rs754314582
|
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.847G>A (p.Ala283Thr)
|
rs1456826284
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000391.4(TPP1):c.864C>T (p.Ser288=)
|
rs1416432182
|
0.00001
|
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn)
|
rs1426277822
|
0.00001
|
NM_000391.4(TPP1):c.876C>T (p.Tyr292=)
|
rs1176117951
|
0.00001
|
NM_000391.4(TPP1):c.881G>A (p.Ser294Asn)
|
rs1230170822
|
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.917A>T (p.Gln306Leu)
|
rs201192562
|
0.00001
|
NM_000391.4(TPP1):c.930G>A (p.Leu310=)
|
rs760531038
|
0.00001
|
NM_000391.4(TPP1):c.949C>T (p.Leu317=)
|
rs1267077821
|
0.00001
|
NM_000391.4(TPP1):c.94C>T (p.Pro32Ser)
|
rs1295778740
|
0.00001
|
NM_000391.4(TPP1):c.959T>G (p.Val320Gly)
|
rs1314521780
|
0.00001
|
NM_000391.4(TPP1):c.968T>C (p.Val323Ala)
|
rs770155767
|
0.00001
|
NM_000391.4(TPP1):c.992C>G (p.Ser331Cys)
|
rs755386210
|
0.00001
|
NM_000391.4(TPP1):c.993C>T (p.Ser331=)
|
rs1855585414
|
0.00001
|
NC_000011.10:g.6615330del
|
rs2134591803
|
|
NC_000011.10:g.6618916del
|
|
|
NM_000391.4(TPP1):c.1002C>T (p.Ser334=)
|
rs796053432
|
|
NM_000391.4(TPP1):c.1005C>T (p.Ala335=)
|
rs1855585146
|
|
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)
|
rs984125804
|
|
NM_000391.4(TPP1):c.100G>A (p.Gly34Ser)
|
rs1855627578
|
|
NM_000391.4(TPP1):c.1011C>T (p.Ile337=)
|
|
|
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1017G>A (p.Arg339=)
|
|
|
NM_000391.4(TPP1):c.1017G>T (p.Arg339=)
|
rs1490178326
|
|
NM_000391.4(TPP1):c.101G>C (p.Gly34Ala)
|
rs138448968
|
|
NM_000391.4(TPP1):c.1020C>G (p.Val340=)
|
rs915667605
|
|
NM_000391.4(TPP1):c.1023C>T (p.Asn341=)
|
rs2134593612
|
|
NM_000391.4(TPP1):c.1026T>A (p.Thr342=)
|
rs2134593607
|
|
NM_000391.4(TPP1):c.1029G>A (p.Glu343=)
|
|
|
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg)
|
rs764077257
|
|
NM_000391.4(TPP1):c.1039G>C (p.Ala347Pro)
|
|
|
NM_000391.4(TPP1):c.1045G>C (p.Ala349Pro)
|
rs1085307673
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1049G>C (p.Arg350Pro)
|
rs199866669
|
|
NM_000391.4(TPP1):c.1062G>A (p.Leu354=)
|
|
|
NM_000391.4(TPP1):c.1065C>G (p.Leu355=)
|
rs777261002
|
|
NM_000391.4(TPP1):c.1066T>A (p.Phe356Ile)
|
rs1176471401
|
|
NM_000391.4(TPP1):c.1075+10T>C
|
rs2134593422
|
|
NM_000391.4(TPP1):c.1075+12C>A
|
|
|
NM_000391.4(TPP1):c.1075+12_1075+16del
|
|
|
NM_000391.4(TPP1):c.1075+16A>G
|
|
|
NM_000391.4(TPP1):c.1075+17_1075+24del
|
|
|
NM_000391.4(TPP1):c.1075+2T>C
|
rs1855583482
|
|
NM_000391.4(TPP1):c.1075+5C>T
|
rs1242288949
|
|
NM_000391.4(TPP1):c.1075+8C>A
|
|
|
NM_000391.4(TPP1):c.1075+8C>T
|
rs2134593431
|
|
NM_000391.4(TPP1):c.1075+9C>T
|
|
|
NM_000391.4(TPP1):c.1076-11G>T
|
|
|
NM_000391.4(TPP1):c.1076-13del
|
|
|
NM_000391.4(TPP1):c.1076-14T>G
|
|
|
NM_000391.4(TPP1):c.1076-19T>C
|
|
|
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.1076-4T>C
|
|
|
NM_000391.4(TPP1):c.1076-5C>T
|
|
|
NM_000391.4(TPP1):c.1076-8T>C
|
rs1855576729
|
|
NM_000391.4(TPP1):c.1076-9C>G
|
|
|
NM_000391.4(TPP1):c.1076-9C>T
|
|
|
NM_000391.4(TPP1):c.1083T>C (p.Ser361=)
|
|
|
NM_000391.4(TPP1):c.1086G>C (p.Gly362=)
|
|
|
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)
|
rs1855576182
|
|
NM_000391.4(TPP1):c.1089C>G (p.Ala363=)
|
|
|
NM_000391.4(TPP1):c.1092G>C (p.Gly364=)
|
|
|
NM_000391.4(TPP1):c.1097G>A (p.Trp366Ter)
|
|
|
NM_000391.4(TPP1):c.1099T>C (p.Ser367Pro)
|
rs1855575694
|
|
NM_000391.4(TPP1):c.1104C>T (p.Val368=)
|
rs528380320
|
|
NM_000391.4(TPP1):c.1116C>T (p.His372=)
|
rs751321300
|
|
NM_000391.4(TPP1):c.1117C>T (p.Gln373Ter)
|
|
|
NM_000391.4(TPP1):c.111C>T (p.Ser37=)
|
rs2134598183
|
|
NM_000391.4(TPP1):c.1124G>A (p.Arg375His)
|
|
|
NM_000391.4(TPP1):c.1129A>T (p.Thr377Ser)
|
|
|
NM_000391.4(TPP1):c.112C>T (p.Leu38=)
|
|
|
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu)
|
rs1554901719
|
|
NM_000391.4(TPP1):c.1140C>T (p.Ala380=)
|
rs1589947977
|
|
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys)
|
rs1241569976
|
|
NM_000391.4(TPP1):c.1143C>T (p.Ser381=)
|
rs1855574394
|
|
NM_000391.4(TPP1):c.1145+10C>T
|
rs772470727
|
|
NM_000391.4(TPP1):c.1145+13G>C
|
|
|
NM_000391.4(TPP1):c.1145+15C>A
|
|
|
NM_000391.4(TPP1):c.1145+15C>T
|
|
|
NM_000391.4(TPP1):c.1145+17A>G
|
rs774611561
|
|
NM_000391.4(TPP1):c.1145+18C>T
|
|
|
NM_000391.4(TPP1):c.1145+19C>G
|
|
|
NM_000391.4(TPP1):c.1145+1G>A
|
rs113019349
|
|
NM_000391.4(TPP1):c.1145+2T>C
|
|
|
NM_000391.4(TPP1):c.1145+6T>C
|
|
|
NM_000391.4(TPP1):c.1145+7A>C
|
|
|
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
|
rs761448855
|
|
NM_000391.4(TPP1):c.1146-15G>A
|
|
|
NM_000391.4(TPP1):c.1146-17C>G
|
|
|
NM_000391.4(TPP1):c.1146-17C>T
|
|
|
NM_000391.4(TPP1):c.1146-19T>C
|
|
|
NM_000391.4(TPP1):c.1146-4T>C
|
|
|
NM_000391.4(TPP1):c.1146-5C>T
|
rs2134592207
|
|
NM_000391.4(TPP1):c.1146-6C>T
|
|
|
NM_000391.4(TPP1):c.1148C>T (p.Pro383Leu)
|
rs763492759
|
|
NM_000391.4(TPP1):c.114G>C (p.Leu38=)
|
|
|
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)
|
rs121908198
|
|
NM_000391.4(TPP1):c.1156A>C (p.Thr386Pro)
|
|
|
NM_000391.4(TPP1):c.1157C>G (p.Thr386Ser)
|
|
|
NM_000391.4(TPP1):c.1157C>T (p.Thr386Ile)
|
|
|
NM_000391.4(TPP1):c.1158C>T (p.Thr386=)
|
rs1324007321
|
|
NM_000391.4(TPP1):c.1163T>C (p.Val388Ala)
|
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1167A>T (p.Gly389=)
|
|
|
NM_000391.4(TPP1):c.1179C>T (p.Phe393=)
|
|
|
NM_000391.4(TPP1):c.117C>T (p.Gly39=)
|
rs545601370
|
|
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg)
|
rs796053442
|
|
NM_000391.4(TPP1):c.1181A>T (p.Gln394Leu)
|
rs796053442
|
|
NM_000391.4(TPP1):c.1186C>A (p.Pro396Thr)
|
rs766934252
|
|
NM_000391.4(TPP1):c.1186C>G (p.Pro396Ala)
|
rs766934252
|
|
NM_000391.4(TPP1):c.1186C>T (p.Pro396Ser)
|
rs766934252
|
|
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu)
|
rs2134592126
|
|
NM_000391.4(TPP1):c.1188T>C (p.Pro396=)
|
|
|
NM_000391.4(TPP1):c.1194C>G (p.Leu398=)
|
|
|
NM_000391.4(TPP1):c.119G>T (p.Arg40Leu)
|
|
|
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)
|
rs567523850
|
|
NM_000391.4(TPP1):c.1200A>G (p.Thr400=)
|
rs2134592105
|
|
NM_000391.4(TPP1):c.1206A>G (p.Glu402=)
|
rs1430496749
|
|
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr)
|
rs1564854446
|
|
NM_000391.4(TPP1):c.120T>C (p.Arg40=)
|
rs2134598139
|
|
NM_000391.4(TPP1):c.1212T>G (p.Val404=)
|
rs2134592076
|
|
NM_000391.4(TPP1):c.1215C>T (p.Asp405=)
|
rs2134592068
|
|
NM_000391.4(TPP1):c.1217A>C (p.Tyr406Ser)
|
|
|
NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter)
|
rs747179298
|
|
NM_000391.4(TPP1):c.1219A>G (p.Ile407Val)
|
rs775276482
|
|
NM_000391.4(TPP1):c.1226G>T (p.Gly409Val)
|
|
|
NM_000391.4(TPP1):c.1228G>T (p.Gly410Cys)
|
|
|
NM_000391.4(TPP1):c.1232G>T (p.Gly411Val)
|
|
|
NM_000391.4(TPP1):c.123G>T (p.Ala41=)
|
|
|
NM_000391.4(TPP1):c.1245G>A (p.Val415=)
|
|
|
NM_000391.4(TPP1):c.1247T>A (p.Phe416Tyr)
|
rs1855565943
|
|
NM_000391.4(TPP1):c.1255C>G (p.Pro419Ala)
|
|
|
NM_000391.4(TPP1):c.1266+11T>C
|
rs1451142404
|
|
NM_000391.4(TPP1):c.1266+13G>A
|
|
|
NM_000391.4(TPP1):c.1266+15G>C
|
rs370468667
|
|
NM_000391.4(TPP1):c.1266+17G>C
|
|
|
NM_000391.4(TPP1):c.1266+1G>A
|
|
|
NM_000391.4(TPP1):c.1266+1G>T
|
|
|
NM_000391.4(TPP1):c.1266+20T>A
|
|
|
NM_000391.4(TPP1):c.1266+5GT[2]
|
|
|
NM_000391.4(TPP1):c.1267-2A>G
|
rs1855562978
|
|
NM_000391.4(TPP1):c.1267-9G>C
|
rs1166231114
|
|
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser)
|
rs769487055
|
|
NM_000391.4(TPP1):c.1287C>T (p.Phe429=)
|
|
|
NM_000391.4(TPP1):c.128C>T (p.Pro43Leu)
|
|
|
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser)
|
rs1420637772
|
|
NM_000391.4(TPP1):c.1301C>T (p.Pro434Leu)
|
rs1251029614
|
|
NM_000391.4(TPP1):c.1303C>A (p.His435Asn)
|
|
|
NM_000391.4(TPP1):c.1303C>G (p.His435Asp)
|
rs755829911
|
|
NM_000391.4(TPP1):c.1314A>G (p.Pro438=)
|
|
|
NM_000391.4(TPP1):c.1317C>G (p.Ser439=)
|
|
|
NM_000391.4(TPP1):c.1318A>G (p.Ser440Gly)
|
rs1360268502
|
|
NM_000391.4(TPP1):c.1323_1326del (p.Ser440_Tyr441insTer)
|
rs2134591716
|
|
NM_000391.4(TPP1):c.1331C>T (p.Ala444Val)
|
|
|
NM_000391.4(TPP1):c.1338C>T (p.Gly446=)
|
|
|
NM_000391.4(TPP1):c.1345T>A (p.Tyr449Asn)
|
rs1161254142
|
|
NM_000391.4(TPP1):c.1347C>T (p.Tyr449=)
|
|
|
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)
|
rs1589947644
|
|
NM_000391.4(TPP1):c.1362A>T (p.Ala454=)
|
rs141701073
|
|
NM_000391.4(TPP1):c.1363_1425+9del
|
rs2134591509
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1380G>C (p.Trp460Cys)
|
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
NM_000391.4(TPP1):c.1398G>A (p.Val466=)
|
rs2134591585
|
|
NM_000391.4(TPP1):c.1398G>T (p.Val466=)
|
|
|
NM_000391.4(TPP1):c.1399C>G (p.Pro467Ala)
|
|
|
NM_000391.4(TPP1):c.1399C>T (p.Pro467Ser)
|
rs1463818673
|
|
NM_000391.4(TPP1):c.13G>A (p.Ala5Thr)
|
|
|
NM_000391.4(TPP1):c.13G>T (p.Ala5Ser)
|
rs1216441144
|
|
NM_000391.4(TPP1):c.1401C>T (p.Pro467=)
|
|
|
NM_000391.4(TPP1):c.1411G>A (p.Val471Met)
|
rs2134591541
|
|
NM_000391.4(TPP1):c.1416C>A (p.Ser472=)
|
|
|
NM_000391.4(TPP1):c.1422C>T (p.Thr474=)
|
rs776302678
|
|
NM_000391.4(TPP1):c.1425+12C>A
|
|
|
NM_000391.4(TPP1):c.1425+13C>G
|
|
|
NM_000391.4(TPP1):c.1425+17C>T
|
|
|
NM_000391.4(TPP1):c.1425+2T>G
|
rs2134591515
|
|
NM_000391.4(TPP1):c.1425G>C (p.Ser475=)
|
|
|
NM_000391.4(TPP1):c.1426-10A>C
|
|
|
NM_000391.4(TPP1):c.1426-10A>G
|
rs200965587
|
|
NM_000391.4(TPP1):c.1426-10A>T
|
rs200965587
|
|
NM_000391.4(TPP1):c.1426-1G>A
|
rs867927501
|
|
NM_000391.4(TPP1):c.1426-20T>C
|
rs775087485
|
|
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg)
|
rs201847207
|
|
NM_000391.4(TPP1):c.1434T>C (p.Thr478=)
|
rs1855555887
|
|
NM_000391.4(TPP1):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000391.4(TPP1):c.1438G>A (p.Val480Met)
|
|
|
NM_000391.4(TPP1):c.1439T>C (p.Val480Ala)
|
|
|
NM_000391.4(TPP1):c.1443T>C (p.Phe481=)
|
rs1245220130
|
|
NM_000391.4(TPP1):c.1443_1444delinsCT (p.Gly482Trp)
|
|
|
NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)
|
|
|
NM_000391.4(TPP1):c.1449G>A (p.Gly483=)
|
rs1589947511
|
|
NM_000391.4(TPP1):c.1449G>C (p.Gly483=)
|
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1450A>C (p.Ile484Leu)
|
rs1564854194
|
|
NM_000391.4(TPP1):c.1452C>T (p.Ile484=)
|
|
|
NM_000391.4(TPP1):c.1455A>G (p.Leu485=)
|
rs2134591114
|
|
NM_000391.4(TPP1):c.145C>G (p.Leu49Val)
|
rs752191339
|
|
NM_000391.4(TPP1):c.145C>T (p.Leu49Phe)
|
rs752191339
|
|
NM_000391.4(TPP1):c.1461G>A (p.Leu487=)
|
|
|
NM_000391.4(TPP1):c.1467T>A (p.Asn489Lys)
|
rs1855554877
|
|
NM_000391.4(TPP1):c.1467T>C (p.Asn489=)
|
|
|
NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter)
|
rs1855554832
|
|
NM_000391.4(TPP1):c.146_155del (p.Leu49fs)
|
|
|
NM_000391.4(TPP1):c.1470G>A (p.Glu490=)
|
rs367681647
|
|
NM_000391.4(TPP1):c.1471del (p.His491fs)
|
rs1855554681
|
|
NM_000391.4(TPP1):c.1473C>T (p.His491=)
|
rs1225589661
|
|
NM_000391.4(TPP1):c.1477_1478dup (p.Leu494fs)
|
|
|
NM_000391.4(TPP1):c.1482T>C (p.Leu494=)
|
|
|
NM_000391.4(TPP1):c.1483A>C (p.Ser495Arg)
|
rs1855554457
|
|
NM_000391.4(TPP1):c.1485T>C (p.Ser495=)
|
rs2134591028
|
|
NM_000391.4(TPP1):c.1490del (p.Arg497fs)
|
|
|
NM_000391.4(TPP1):c.1491C>T (p.Arg497=)
|
|
|
NM_000391.4(TPP1):c.1494C>G (p.Pro498=)
|
rs117942457
|
|
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.1496del (p.Pro499fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1497del (p.Gly501fs)
|
rs1554901523
|
|
NM_000391.4(TPP1):c.1503C>G (p.Gly501=)
|
|
|
NM_000391.4(TPP1):c.1503C>T (p.Gly501=)
|
rs1408208445
|
|
NM_000391.4(TPP1):c.1506T>C (p.Phe502=)
|
rs2134590902
|
|
NM_000391.4(TPP1):c.150C>T (p.Thr50=)
|
rs2134598044
|
|
NM_000391.4(TPP1):c.1512C>T (p.Asn504=)
|
rs1564854136
|
|
NM_000391.4(TPP1):c.1513C>T (p.Pro505Ser)
|
|
|
NM_000391.4(TPP1):c.1514C>T (p.Pro505Leu)
|
rs138941580
|
|
NM_000391.4(TPP1):c.1518G>A (p.Arg506=)
|
|
|
NM_000391.4(TPP1):c.152T>C (p.Phe51Ser)
|
|
|
NM_000391.4(TPP1):c.1531C>T (p.His511Tyr)
|
|
|
NM_000391.4(TPP1):c.1536G>A (p.Gly512=)
|
rs1589947461
|
|
NM_000391.4(TPP1):c.1540G>C (p.Gly514Arg)
|
|
|
NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter)
|
rs2134590841
|
|
NM_000391.4(TPP1):c.1545C>A (p.Leu515=)
|
|
|
NM_000391.4(TPP1):c.1545C>G (p.Leu515=)
|
|
|
NM_000391.4(TPP1):c.1545C>T (p.Leu515=)
|
|
|
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)
|
rs763961289
|
|
NM_000391.4(TPP1):c.1548_1551dup (p.Val518Ter)
|
rs762583993
|
|
NM_000391.4(TPP1):c.1551+11A>T
|
|
|
NM_000391.4(TPP1):c.1551+12A>G
|
|
|
NM_000391.4(TPP1):c.1551+14G>A
|
|
|
NM_000391.4(TPP1):c.1551+16A>C
|
|
|
NM_000391.4(TPP1):c.1551+17A>G
|
rs2134590754
|
|
NM_000391.4(TPP1):c.1551+18G>A
|
|
|
NM_000391.4(TPP1):c.1551+18G>C
|
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1G>T
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1del
|
|
|
NM_000391.4(TPP1):c.1551+20G>A
|
|
|
NM_000391.4(TPP1):c.1551+9G>A
|
rs1589947443
|
|
NM_000391.4(TPP1):c.1551T>G (p.Asp517Glu)
|
rs2134590787
|
|
NM_000391.4(TPP1):c.1552-11C>T
|
rs1435878513
|
|
NM_000391.4(TPP1):c.1552-12C>A
|
rs1589947380
|
|
NM_000391.4(TPP1):c.1552-13G>A
|
|
|
NM_000391.4(TPP1):c.1552-13G>C
|
|
|
NM_000391.4(TPP1):c.1552-15C>T
|
|
|
NM_000391.4(TPP1):c.1552-20G>C
|
|
|
NM_000391.4(TPP1):c.1552-4del
|
rs1589947372
|
|
NM_000391.4(TPP1):c.1554A>T (p.Val518=)
|
rs1315475423
|
|
NM_000391.4(TPP1):c.1557C>G (p.Thr519=)
|
|
|
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
|
rs371204585
|
|
NM_000391.4(TPP1):c.1558del (p.Arg520fs)
|
rs2134590532
|
|
NM_000391.4(TPP1):c.155C>A (p.Ala52Asp)
|
rs2134598027
|
|
NM_000391.4(TPP1):c.1563C>G (p.Gly521=)
|
rs1589947366
|
|
NM_000391.4(TPP1):c.1565G>A (p.Cys522Tyr)
|
rs2134590511
|
|
NM_000391.4(TPP1):c.1569T>C (p.His523=)
|
rs1029334403
|
|
NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)
|
|
|
NM_000391.4(TPP1):c.1574C>T (p.Ser525Phe)
|
rs2134590496
|
|
NM_000391.4(TPP1):c.1575C>A (p.Ser525=)
|
|
|
NM_000391.4(TPP1):c.1585G>A (p.Glu529Lys)
|
|
|
NM_000391.4(TPP1):c.1590G>A (p.Glu530=)
|
|
|
NM_000391.4(TPP1):c.1591G>A (p.Val531Ile)
|
|
|
NM_000391.4(TPP1):c.1593A>G (p.Val531=)
|
rs1554901473
|
|
NM_000391.4(TPP1):c.1597G>A (p.Gly533Ser)
|
rs2134590473
|
|
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)
|
rs1554901472
|
|
NM_000391.4(TPP1):c.1601A>G (p.Gln534Arg)
|
|
|
NM_000391.4(TPP1):c.1602G>A (p.Gln534=)
|
|
|
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)
|
|
|
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr)
|
rs777744177
|
|
NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr)
|
|
|
NM_000391.4(TPP1):c.1621G>A (p.Gly541Ser)
|
rs2134590426
|
|
NM_000391.4(TPP1):c.1623C>T (p.Gly541=)
|
|
|
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)
|
rs2134590423
|
|
NM_000391.4(TPP1):c.1632T>C (p.Pro544=)
|
|
|
NM_000391.4(TPP1):c.1633G>T (p.Val545Leu)
|
|
|
NM_000391.4(TPP1):c.1635A>G (p.Val545=)
|
|
|
NM_000391.4(TPP1):c.1637C>T (p.Thr546Ile)
|
|
|
NM_000391.4(TPP1):c.1638A>G (p.Thr546=)
|
|
|
NM_000391.4(TPP1):c.1641C>G (p.Gly547=)
|
|
|
NM_000391.4(TPP1):c.1641C>T (p.Gly547=)
|
|
|
NM_000391.4(TPP1):c.1643G>A (p.Trp548Ter)
|
rs2134590374
|
|
NM_000391.4(TPP1):c.1644G>A (p.Trp548Ter)
|
rs987390731
|
|
NM_000391.4(TPP1):c.1652C>G (p.Pro551Arg)
|
|
|
NM_000391.4(TPP1):c.1653dup (p.Asn552fs)
|
|
|
NM_000391.4(TPP1):c.1662A>G (p.Pro554=)
|
rs2134590322
|
|
NM_000391.4(TPP1):c.1669C>A (p.Leu557Met)
|
rs1855546019
|
|
NM_000391.4(TPP1):c.1670T>C (p.Leu557Pro)
|
|
|
NM_000391.4(TPP1):c.1674G>C (p.Lys558Asn)
|
rs2134590280
|
|
NM_000391.4(TPP1):c.1676C>G (p.Thr559Ser)
|
rs2134590272
|
|
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)
|
rs759664259
|
|
NM_000391.4(TPP1):c.1679_1683del (p.Leu560fs)
|
|
|
NM_000391.4(TPP1):c.1681C>G (p.Leu561Val)
|
rs566120191
|
|
NM_000391.4(TPP1):c.1681C>T (p.Leu561Phe)
|
|
|
NM_000391.4(TPP1):c.1686C>T (p.Asn562=)
|
rs2134590246
|
|
NM_000391.4(TPP1):c.1690T>C (p.Ter564Arg)
|
rs2134590234
|
|
NM_000391.4(TPP1):c.17+13G>C
|
|
|
NM_000391.4(TPP1):c.17+17G>A
|
rs1589949703
|
|
NM_000391.4(TPP1):c.17+17G>T
|
|
|
NM_000391.4(TPP1):c.17+18C>T
|
|
|
NM_000391.4(TPP1):c.17+1G>A
|
rs779615685
|
|
NM_000391.4(TPP1):c.17+2T>A
|
|
|
NM_000391.4(TPP1):c.17+9T>C
|
rs2134599187
|
|
NM_000391.4(TPP1):c.175_195del (p.Glu59_Val65del)
|
|
|
NM_000391.4(TPP1):c.177_194del (p.Arg60_Val65del)
|
rs2134597918
|
|
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
|
rs1589949717
|
|
NM_000391.4(TPP1):c.18-10G>A
|
|
|
NM_000391.4(TPP1):c.18-16C>T
|
|
|
NM_000391.4(TPP1):c.18-17del
|
|
|
NM_000391.4(TPP1):c.18-18C>T
|
|
|
NM_000391.4(TPP1):c.18-19C>G
|
|
|
NM_000391.4(TPP1):c.18-4A>G
|
rs2134598928
|
|
NM_000391.4(TPP1):c.18-6C>T
|
rs1416058431
|
|
NM_000391.4(TPP1):c.18-8C>T
|
|
|
NM_000391.4(TPP1):c.180A>G (p.Arg60=)
|
rs1233629187
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.186G>A (p.Ser62=)
|
rs1310417118
|
|
NM_000391.4(TPP1):c.186G>C (p.Ser62=)
|
rs1310417118
|
|
NM_000391.4(TPP1):c.188A>T (p.Glu63Val)
|
|
|
NM_000391.4(TPP1):c.190C>G (p.Leu64Val)
|
rs898250545
|
|
NM_000391.4(TPP1):c.192G>T (p.Leu64=)
|
|
|
NM_000391.4(TPP1):c.193G>A (p.Val65Met)
|
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
NM_000391.4(TPP1):c.198G>A (p.Gln66=)
|
rs2134597902
|
|
NM_000391.4(TPP1):c.199G>C (p.Ala67Pro)
|
rs762309607
|
|
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly)
|
rs796053435
|
|
NM_000391.4(TPP1):c.201T>C (p.Ala67=)
|
|
|
NM_000391.4(TPP1):c.204G>A (p.Val68=)
|
|
|
NM_000391.4(TPP1):c.204G>T (p.Val68=)
|
rs1045690485
|
|
NM_000391.4(TPP1):c.207G>C (p.Ser69=)
|
rs761070664
|
|
NM_000391.4(TPP1):c.210T>C (p.Asp70=)
|
rs1250592540
|
|
NM_000391.4(TPP1):c.213C>T (p.Pro71=)
|
rs143730817
|
|
NM_000391.4(TPP1):c.216C>T (p.Ser72=)
|
|
|
NM_000391.4(TPP1):c.219T>C (p.Ser73=)
|
rs1456089848
|
|
NM_000391.4(TPP1):c.21C>T (p.Leu7=)
|
rs2134598893
|
|
NM_000391.4(TPP1):c.220C>T (p.Pro74Ser)
|
rs1855623835
|
|
NM_000391.4(TPP1):c.221C>T (p.Pro74Leu)
|
|
|
NM_000391.4(TPP1):c.226T>C (p.Tyr76His)
|
|
|
NM_000391.4(TPP1):c.229+16G>A
|
|
|
NM_000391.4(TPP1):c.229+18G>A
|
|
|
NM_000391.4(TPP1):c.229+19G>A
|
|
|
NM_000391.4(TPP1):c.229+9T>G
|
rs2134597750
|
|
NM_000391.4(TPP1):c.230-11A>T
|
|
|
NM_000391.4(TPP1):c.230-13T>A
|
rs775734455
|
|
NM_000391.4(TPP1):c.230-17C>T
|
|
|
NM_000391.4(TPP1):c.230-1G>A
|
|
|
NM_000391.4(TPP1):c.230-6C>T
|
|
|
NM_000391.4(TPP1):c.230-7C>T
|
rs1855609354
|
|
NM_000391.4(TPP1):c.240G>C (p.Leu80=)
|
rs2134596408
|
|
NM_000391.4(TPP1):c.241A>G (p.Thr81Ala)
|
rs1855609152
|
|
NM_000391.4(TPP1):c.243C>T (p.Thr81=)
|
|
|
NM_000391.4(TPP1):c.244C>T (p.Leu82=)
|
rs794727623
|
|
NM_000391.4(TPP1):c.246A>G (p.Leu82=)
|
|
|
NM_000391.4(TPP1):c.24A>C (p.Leu8=)
|
|
|
NM_000391.4(TPP1):c.24A>G (p.Leu8=)
|
|
|
NM_000391.4(TPP1):c.252T>C (p.Asn84=)
|
rs1240963816
|
|
NM_000391.4(TPP1):c.259G>A (p.Asp87Asn)
|
|
|
NM_000391.4(TPP1):c.264G>T (p.Leu88=)
|
rs2134596352
|
|
NM_000391.4(TPP1):c.272C>T (p.Pro91Leu)
|
rs1855608483
|
|
NM_000391.4(TPP1):c.273A>G (p.Pro91=)
|
|
|
NM_000391.4(TPP1):c.274T>C (p.Ser92Pro)
|
rs372102190
|
|
NM_000391.4(TPP1):c.276C>T (p.Ser92=)
|
rs1344424036
|
|
NM_000391.4(TPP1):c.282G>C (p.Leu94=)
|
|
|
NM_000391.4(TPP1):c.284C>T (p.Thr95Ile)
|
|
|
NM_000391.4(TPP1):c.285C>T (p.Thr95=)
|
|
|
NM_000391.4(TPP1):c.288_289dup (p.His97fs)
|
|
|
NM_000391.4(TPP1):c.28C>A (p.Leu10Ile)
|
|
|
NM_000391.4(TPP1):c.28C>G (p.Leu10Val)
|
|
|
NM_000391.4(TPP1):c.28C>T (p.Leu10Phe)
|
|
|
NM_000391.4(TPP1):c.291C>T (p.His97=)
|
|
|
NM_000391.4(TPP1):c.294G>C (p.Thr98=)
|
|
|
NM_000391.4(TPP1):c.295G>C (p.Val99Leu)
|
rs756622036
|
|
NM_000391.4(TPP1):c.304T>C (p.Trp102Arg)
|
rs2134596230
|
|
NM_000391.4(TPP1):c.30C>G (p.Leu10=)
|
|
|
NM_000391.4(TPP1):c.30C>T (p.Leu10=)
|
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.312G>A (p.Leu104=)
|
rs966258705
|
|
NM_000391.4(TPP1):c.323C>G (p.Ala108Gly)
|
rs374132017
|
|
NM_000391.4(TPP1):c.324C>G (p.Ala108=)
|
|
|
NM_000391.4(TPP1):c.327G>A (p.Gln109=)
|
rs2134596176
|
|
NM_000391.4(TPP1):c.333C>T (p.Cys111=)
|
rs1589948939
|
|
NM_000391.4(TPP1):c.336T>C (p.His112=)
|
|
|
NM_000391.4(TPP1):c.337dup (p.Ser113fs)
|
|
|
NM_000391.4(TPP1):c.351G>A (p.Gln117=)
|
|
|
NM_000391.4(TPP1):c.354C>T (p.Asp118=)
|
rs2134596148
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.358C>T (p.Leu120=)
|
|
|
NM_000391.4(TPP1):c.365G>T (p.Cys122Phe)
|
|
|
NM_000391.4(TPP1):c.36C>T (p.Ala12=)
|
rs2134598867
|
|
NM_000391.4(TPP1):c.375C>T (p.Ser125=)
|
rs2134596122
|
|
NM_000391.4(TPP1):c.376_380+6del
|
rs1414255979
|
|
NM_000391.4(TPP1):c.377T>G (p.Ile126Ser)
|
rs2134596119
|
|
NM_000391.4(TPP1):c.378C>A (p.Ile126=)
|
rs778429963
|
|
NM_000391.4(TPP1):c.378C>T (p.Ile126=)
|
|
|
NM_000391.4(TPP1):c.37C>G (p.Leu13Val)
|
|
|
NM_000391.4(TPP1):c.380+11A>G
|
rs2134596077
|
|
NM_000391.4(TPP1):c.380+12T>C
|
|
|
NM_000391.4(TPP1):c.380+16del
|
|
|
NM_000391.4(TPP1):c.380+17G>A
|
|
|
NM_000391.4(TPP1):c.380+19T>C
|
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.380G>T (p.Arg127Leu)
|
|
|
NM_000391.4(TPP1):c.381-16G>A
|
|
|
NM_000391.4(TPP1):c.381-17_381-4del
|
|
|
NM_000391.4(TPP1):c.381-20C>T
|
rs1410018709
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.382C>T (p.Gln128Ter)
|
|
|
NM_000391.4(TPP1):c.387A>T (p.Ala129=)
|
rs1855604177
|
|
NM_000391.4(TPP1):c.389A>G (p.Glu130Gly)
|
rs765595428
|
|
NM_000391.4(TPP1):c.38_68del (p.Leu13fs)
|
rs2134598751
|
|
NM_000391.4(TPP1):c.390G>A (p.Glu130=)
|
rs2134595821
|
|
NM_000391.4(TPP1):c.396G>A (p.Leu132=)
|
rs761793068
|
|
NM_000391.4(TPP1):c.399C>T (p.Leu133=)
|
|
|
NM_000391.4(TPP1):c.39C>T (p.Leu13=)
|
rs2134598859
|
|
NM_000391.4(TPP1):c.3G>C (p.Met1Ile)
|
rs2134599310
|
|
NM_000391.4(TPP1):c.408T>C (p.Ala136=)
|
|
|
NM_000391.4(TPP1):c.408del (p.Glu137fs)
|
rs2134595789
|
|
NM_000391.4(TPP1):c.416A>G (p.His139Arg)
|
rs1855603758
|
|
NM_000391.4(TPP1):c.419del (p.His140fs)
|
|
|
NM_000391.4(TPP1):c.420C>A (p.His140Gln)
|
rs1057521538
|
|
NM_000391.4(TPP1):c.420C>T (p.His140=)
|
rs1057521538
|
|
NM_000391.4(TPP1):c.421T>C (p.Tyr141His)
|
rs2134595764
|
|
NM_000391.4(TPP1):c.423T>C (p.Tyr141=)
|
|
|
NM_000391.4(TPP1):c.426G>A (p.Val142=)
|
|
|
NM_000391.4(TPP1):c.426G>T (p.Val142=)
|
rs2134595746
|
|
NM_000391.4(TPP1):c.429A>G (p.Gly143=)
|
rs2134595737
|
|
NM_000391.4(TPP1):c.436A>T (p.Thr146Ser)
|
|
|
NM_000391.4(TPP1):c.441_443delinsGGACCTACGGAGGACCTACGGAGGACCA (p.Thr148fs)
|
|
|
NM_000391.4(TPP1):c.446A>G (p.His149Arg)
|
rs747540137
|
|
NM_000391.4(TPP1):c.447T>C (p.His149=)
|
rs2134595676
|
|
NM_000391.4(TPP1):c.453A>G (p.Val151=)
|
rs1190845861
|
|
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)
|
rs878855331
|
|
NM_000391.4(TPP1):c.459C>T (p.Ser153=)
|
rs758804147
|
|
NM_000391.4(TPP1):c.470A>T (p.Tyr157Phe)
|
rs2134595634
|
|
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)
|
rs553522118
|
|
NM_000391.4(TPP1):c.471C>T (p.Tyr157=)
|
|
|
NM_000391.4(TPP1):c.472C>T (p.Gln158Ter)
|
rs2134595625
|
|
NM_000391.4(TPP1):c.474G>T (p.Gln158His)
|
|
|
NM_000391.4(TPP1):c.475C>T (p.Leu159Phe)
|
rs1855602609
|
|
NM_000391.4(TPP1):c.478C>G (p.Pro160Ala)
|
rs2134595606
|
|
NM_000391.4(TPP1):c.479C>T (p.Pro160Leu)
|
rs753822217
|
|
NM_000391.4(TPP1):c.486C>T (p.Ala162=)
|
rs2134595597
|
|
NM_000391.4(TPP1):c.488T>C (p.Leu163Ser)
|
|
|
NM_000391.4(TPP1):c.489G>A (p.Leu163=)
|
rs756202166
|
|
NM_000391.4(TPP1):c.489G>C (p.Leu163Phe)
|
|
|
NM_000391.4(TPP1):c.48T>C (p.Ser16=)
|
|
|
NM_000391.4(TPP1):c.492C>T (p.Ala164=)
|
|
|
NM_000391.4(TPP1):c.493C>T (p.Pro165Ser)
|
rs2134595577
|
|
NM_000391.4(TPP1):c.496del (p.His166fs)
|
|
|
NM_000391.4(TPP1):c.496dup (p.His166fs)
|
|
|
NM_000391.4(TPP1):c.497A>T (p.His166Leu)
|
rs796053437
|
|
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs)
|
rs1554902020
|
|
NM_000391.4(TPP1):c.501G>A (p.Val167=)
|
|
|
NM_000391.4(TPP1):c.501G>C (p.Val167=)
|
|
|
NM_000391.4(TPP1):c.508+11T>C
|
|
|
NM_000391.4(TPP1):c.508+19A>T
|
|
|
NM_000391.4(TPP1):c.508+7C>T
|
rs373013303
|
|
NM_000391.4(TPP1):c.508+8C>T
|
|
|
NM_000391.4(TPP1):c.508+9T>A
|
|
|
NM_000391.4(TPP1):c.508+9T>G
|
rs2134595523
|
|
NM_000391.4(TPP1):c.509-10C>T
|
rs2134595305
|
|
NM_000391.4(TPP1):c.509-13C>T
|
rs2134595308
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-2A>G
|
rs1855599946
|
|
NM_000391.4(TPP1):c.509-4A>G
|
rs1589948696
|
|
NM_000391.4(TPP1):c.509-6C>T
|
rs778046473
|
|
NM_000391.4(TPP1):c.509-7C>T
|
|
|
NM_000391.4(TPP1):c.509-8C>A
|
rs771299096
|
|
NM_000391.4(TPP1):c.509-8C>G
|
|
|
NM_000391.4(TPP1):c.509-8C>T
|
|
|
NM_000391.4(TPP1):c.510G>C (p.Val170=)
|
|
|
NM_000391.4(TPP1):c.513G>A (p.Gly171=)
|
rs145224171
|
|
NM_000391.4(TPP1):c.515G>A (p.Gly172Glu)
|
|
|
NM_000391.4(TPP1):c.520C>T (p.His174Tyr)
|
rs796053438
|
|
NM_000391.4(TPP1):c.520_524del (p.His174fs)
|
|
|
NM_000391.4(TPP1):c.528T>C (p.Phe176=)
|
|
|
NM_000391.4(TPP1):c.52A>T (p.Lys18Ter)
|
rs1469902314
|
|
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)
|
rs149986601
|
|
NM_000391.4(TPP1):c.532C>T (p.Pro178Ser)
|
rs149986601
|
|
NM_000391.4(TPP1):c.535A>G (p.Thr179Ala)
|
rs1488047336
|
|
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)
|
rs1488047336
|
|
NM_000391.4(TPP1):c.541T>A (p.Ser181Thr)
|
|
|
NM_000391.4(TPP1):c.542C>A (p.Ser181Tyr)
|
rs139059149
|
|
NM_000391.4(TPP1):c.543C>T (p.Ser181=)
|
|
|
NM_000391.4(TPP1):c.544C>T (p.Leu182=)
|
rs776858324
|
|
NM_000391.4(TPP1):c.547A>G (p.Arg183Gly)
|
|
|
NM_000391.4(TPP1):c.548G>A (p.Arg183Lys)
|
rs573539804
|
|
NM_000391.4(TPP1):c.550C>T (p.Gln184Ter)
|
|
|
NM_000391.4(TPP1):c.552A>G (p.Gln184=)
|
rs2134595125
|
|
NM_000391.4(TPP1):c.568G>A (p.Val190Met)
|
rs546294509
|
|
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile)
|
rs1589948627
|
|
NM_000391.4(TPP1):c.573A>T (p.Thr191=)
|
rs1334167217
|
|
NM_000391.4(TPP1):c.587T>G (p.Leu196Arg)
|
|
|
NM_000391.4(TPP1):c.590A>G (p.His197Arg)
|
|
|
NM_000391.4(TPP1):c.597G>A (p.Gly199=)
|
|
|
NM_000391.4(TPP1):c.5G>A (p.Gly2Glu)
|
rs1486495937
|
|
NM_000391.4(TPP1):c.600A>G (p.Val200=)
|
|
|
NM_000391.4(TPP1):c.603C>T (p.Thr201=)
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|
|
NM_000391.4(TPP1):c.605C>A (p.Pro202His)
|
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.606dup (p.Ser203fs)
|
|
|
NM_000391.4(TPP1):c.609T>C (p.Ser203=)
|
|
|
NM_000391.4(TPP1):c.609dup (p.Val204fs)
|
rs1057516366
|
|
NM_000391.4(TPP1):c.613A>G (p.Ile205Val)
|
|
|
NM_000391.4(TPP1):c.614T>C (p.Ile205Thr)
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|
|
NM_000391.4(TPP1):c.615C>G (p.Ile205Met)
|
rs2134594996
|
|
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro)
|
rs121908209
|
|
NM_000391.4(TPP1):c.617del (p.Arg206fs)
|
|
|
NM_000391.4(TPP1):c.620A>C (p.Lys207Thr)
|
rs2134594975
|
|
NM_000391.4(TPP1):c.623G>A (p.Arg208Gln)
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|
|
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys)
|
rs1554901957
|
|
NM_000391.4(TPP1):c.629A>G (p.Asn210Ser)
|
rs2134594943
|
|
NM_000391.4(TPP1):c.635C>T (p.Thr212Ile)
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|
|
NM_000391.4(TPP1):c.63C>T (p.Tyr21=)
|
rs1279298400
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
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|
|
NM_000391.4(TPP1):c.648G>A (p.Val216=)
|
rs1589948570
|
|
NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)
|
|
|
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)
|
rs202025584
|
|
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile)
|
rs202025584
|
|
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr)
|
rs372787642
|
|
NM_000391.4(TPP1):c.669C>T (p.Asn223=)
|
rs1554901936
|
|
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)
|
rs1855595805
|
|
NM_000391.4(TPP1):c.687+10G>A
|
|
|
NM_000391.4(TPP1):c.687+15G>A
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|
|
NM_000391.4(TPP1):c.687+17G>T
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|
|
NM_000391.4(TPP1):c.687+19C>T
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|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
NM_000391.4(TPP1):c.687+2T>A
|
|
|
NM_000391.4(TPP1):c.687+8A>T
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|
|
NM_000391.4(TPP1):c.687+9A>G
|
rs868837063
|
|
NM_000391.4(TPP1):c.688-13A>G
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|
|
NM_000391.4(TPP1):c.688-13A>T
|
rs755740699
|
|
NM_000391.4(TPP1):c.688-16C>A
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|
|
NM_000391.4(TPP1):c.688-17T>C
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|
|
NM_000391.4(TPP1):c.688-18C>G
|
rs376868997
|
|
NM_000391.4(TPP1):c.688-6C>T
|
rs2134594558
|
|
NM_000391.4(TPP1):c.688-8C>T
|
rs1447072910
|
|
NM_000391.4(TPP1):c.688-9C>T
|
rs2134594577
|
|
NM_000391.4(TPP1):c.68C>A (p.Pro23Gln)
|
|
|
NM_000391.4(TPP1):c.68C>T (p.Pro23Leu)
|
rs2134598745
|
|
NM_000391.4(TPP1):c.690C>T (p.Phe230=)
|
|
|
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
|
rs1326646704
|
|
NM_000391.4(TPP1):c.69G>C (p.Pro23=)
|
|
|
NM_000391.4(TPP1):c.6A>G (p.Gly2=)
|
rs747594496
|
|
NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter)
|
|
|
NM_000391.4(TPP1):c.706C>G (p.His236Asp)
|
rs1414373834
|
|
NM_000391.4(TPP1):c.711C>T (p.Asp237=)
|
|
|
NM_000391.4(TPP1):c.723T>C (p.Ala241=)
|
|
|
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys)
|
rs587780481
|
|
NM_000391.4(TPP1):c.746G>T (p.Gly249Val)
|
rs1202808351
|
|
NM_000391.4(TPP1):c.747C>A (p.Gly249=)
|
|
|
NM_000391.4(TPP1):c.747C>G (p.Gly249=)
|
rs1042510539
|
|
NM_000391.4(TPP1):c.74C>T (p.Pro25Leu)
|
|
|
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu)
|
rs1855592796
|
|
NM_000391.4(TPP1):c.752T>C (p.Phe251Ser)
|
rs2134594463
|
|
NM_000391.4(TPP1):c.754_757del (p.Ala252fs)
|
rs2134594449
|
|
NM_000391.4(TPP1):c.761A>G (p.Gln254Arg)
|
rs1855592653
|
|
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
|
rs1356628460
|
|
NM_000391.4(TPP1):c.768A>G (p.Ser256=)
|
rs770954145
|
|
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn)
|
rs1324731086
|
|
NM_000391.4(TPP1):c.772G>C (p.Ala258Pro)
|
|
|
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr)
|
rs1855592380
|
|
NM_000391.4(TPP1):c.773C>T (p.Ala258Val)
|
|
|
NM_000391.4(TPP1):c.778G>C (p.Val260Leu)
|
rs1855592111
|
|
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)
|
rs1131691539
|
|
NM_000391.4(TPP1):c.789A>G (p.Gln263=)
|
|
|
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)
|
rs1405952769
|
|
NM_000391.4(TPP1):c.799G>C (p.Gly267Arg)
|
rs987642717
|
|
NM_000391.4(TPP1):c.801C>T (p.Gly267=)
|
rs1855591704
|
|
NM_000391.4(TPP1):c.803G>C (p.Arg268Pro)
|
|
|
NM_000391.4(TPP1):c.805G>A (p.Ala269Thr)
|
rs2134594333
|
|
NM_000391.4(TPP1):c.806_810del (p.Ala269fs)
|
|
|
NM_000391.4(TPP1):c.807C>A (p.Ala269=)
|
|
|
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg)
|
rs561854371
|
|
NM_000391.4(TPP1):c.80_81delinsTT (p.Gln27Leu)
|
rs1855632543
|
|
NM_000391.4(TPP1):c.810G>C (p.Gly270=)
|
rs2134594309
|
|
NM_000391.4(TPP1):c.816G>A (p.Glu272=)
|
rs1564855114
|
|
NM_000391.4(TPP1):c.817G>T (p.Ala273Ser)
|
rs2134594292
|
|
NM_000391.4(TPP1):c.828T>C (p.Asp276=)
|
rs1057522366
|
|
NM_000391.4(TPP1):c.82C>T (p.Arg28Trp)
|
rs771499448
|
|
NM_000391.4(TPP1):c.831G>A (p.Val277=)
|
|
|
NM_000391.4(TPP1):c.837C>T (p.Tyr279=)
|
|
|
NM_000391.4(TPP1):c.849T>C (p.Ala283=)
|
|
|
NM_000391.4(TPP1):c.84G>A (p.Arg28=)
|
rs2134598658
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys)
|
rs1420315178
|
|
NM_000391.4(TPP1):c.858C>T (p.Asn286=)
|
rs1420315178
|
|
NM_000391.4(TPP1):c.885T>C (p.Pro295=)
|
rs1347831222
|
|
NM_000391.4(TPP1):c.886+14G>A
|
|
|
NM_000391.4(TPP1):c.886+15A>G
|
|
|
NM_000391.4(TPP1):c.886+2del
|
|
|
NM_000391.4(TPP1):c.886+4C>T
|
|
|
NM_000391.4(TPP1):c.886+5del
|
rs1855590004
|
|
NM_000391.4(TPP1):c.886+7C>T
|
rs886048543
|
|
NM_000391.4(TPP1):c.886+9A>G
|
|
|
NM_000391.4(TPP1):c.887-15A>G
|
rs1855588508
|
|
NM_000391.4(TPP1):c.887-5_887-4del
|
|
|
NM_000391.4(TPP1):c.887-6A>C
|
rs1855588179
|
|
NM_000391.4(TPP1):c.887-6_887-5del
|
rs886048541
|
|
NM_000391.4(TPP1):c.887-7A>T
|
|
|
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala)
|
rs1855632314
|
|
NM_000391.4(TPP1):c.893A>C (p.His298Pro)
|
|
|
NM_000391.4(TPP1):c.894T>C (p.His298=)
|
rs1589948288
|
|
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg)
|
rs1564855000
|
|
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys)
|
rs1175465002
|
|
NM_000391.4(TPP1):c.89C>T (p.Thr30Met)
|
|
|
NM_000391.4(TPP1):c.90-12dup
|
|
|
NM_000391.4(TPP1):c.90-14C>T
|
|
|
NM_000391.4(TPP1):c.90-17G>C
|
|
|
NM_000391.4(TPP1):c.90-19C>T
|
|
|
NM_000391.4(TPP1):c.90-19CTGACCC[3]
|
|
|
NM_000391.4(TPP1):c.90-22_90-16dup
|
|
|
NM_000391.4(TPP1):c.90-2A>T
|
rs1855627953
|
|
NM_000391.4(TPP1):c.90-5T>C
|
|
|
NM_000391.4(TPP1):c.90-6C>T
|
|
|
NM_000391.4(TPP1):c.90-7C>G
|
rs2134598256
|
|
NM_000391.4(TPP1):c.900A>T (p.Gly300=)
|
|
|
NM_000391.4(TPP1):c.906G>A (p.Glu302=)
|
rs765015698
|
|
NM_000391.4(TPP1):c.915G>A (p.Leu305=)
|
|
|
NM_000391.4(TPP1):c.917del (p.Gln306fs)
|
|
|
NM_000391.4(TPP1):c.918G>A (p.Gln306=)
|
rs943551240
|
|
NM_000391.4(TPP1):c.922C>T (p.Leu308Phe)
|
|
|
NM_000391.4(TPP1):c.925A>G (p.Met309Val)
|
|
|
NM_000391.4(TPP1):c.925A>T (p.Met309Leu)
|
rs763854371
|
|
NM_000391.4(TPP1):c.933C>T (p.Leu311=)
|
|
|
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.93G>A (p.Leu31=)
|
rs1855627807
|
|
NM_000391.4(TPP1):c.941_942del (p.Glu314fs)
|
rs1855587043
|
|
NM_000391.4(TPP1):c.951G>C (p.Leu317=)
|
rs576988866
|
|
NM_000391.4(TPP1):c.955C>T (p.His319Tyr)
|
rs2134593776
|
|
NM_000391.4(TPP1):c.957T>C (p.His319=)
|
|
|
NM_000391.4(TPP1):c.960G>A (p.Val320=)
|
|
|
NM_000391.4(TPP1):c.966del (p.Thr322_Val323insTer)
|
|
|
NM_000391.4(TPP1):c.969G>A (p.Val323=)
|
rs2134593732
|
|
NM_000391.4(TPP1):c.96C>G (p.Pro32=)
|
|
|
NM_000391.4(TPP1):c.972C>T (p.Ser324=)
|
rs929589440
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000391.4(TPP1):c.975T>C (p.Tyr325=)
|
rs2134593725
|
|
NM_000391.4(TPP1):c.97C>A (p.Pro33Thr)
|
rs1855627680
|
|
NM_000391.4(TPP1):c.97C>T (p.Pro33Ser)
|
rs1855627680
|
|
NM_000391.4(TPP1):c.984T>A (p.Asp328Glu)
|
|
|
NM_000391.4(TPP1):c.984T>C (p.Asp328=)
|
|
|
NM_000391.4(TPP1):c.987G>A (p.Glu329=)
|
|
|
NM_000391.4(TPP1):c.990C>T (p.Asp330=)
|
|
|
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr)
|
rs755386210
|
|
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe)
|
rs755386210
|
|
NM_000391.4(TPP1):c.993C>A (p.Ser331=)
|
|
|
NM_000391.4(TPP1):c.996C>T (p.Leu332=)
|
rs1589948204
|
|
NM_000391.4(TPP1):c.999C>T (p.Ser333=)
|
rs747433613
|
|
NM_000391.4(TPP1):c.99A>G (p.Pro33=)
|
|
|
NM_000391.4(TPP1):c.9C>G (p.Leu3=)
|
|
|
NM_000391.4(TPP1):c.9C>T (p.Leu3=)
|
|
|