NM_000391.4(TPP1):c.1075+28T>C
|
rs7943955
|
0.98952
|
NM_000391.4(TPP1):c.508+26T>A
|
rs1800738
|
0.47213
|
NM_000391.3(TPP1):c.-238T>C
|
rs1800752
|
0.34997
|
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.1146-107C>G
|
rs1800745
|
0.15491
|
NM_000391.4(TPP1):c.687+32T>C
|
rs1800710
|
0.08743
|
NM_000391.3(TPP1):c.-122T>C
|
rs1800732
|
0.07336
|
NC_000011.10:g.6619550C>T
|
rs1800756
|
0.05012
|
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.688-45G>A
|
rs57382209
|
0.01610
|
NM_000391.4(TPP1):c.508+31G>A
|
rs112765517
|
0.01569
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_000391.4(TPP1):c.89+101G>A
|
rs12280037
|
0.00921
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_000391.4(TPP1):c.509-25C>T
|
rs116069009
|
0.00892
|
NM_000391.4(TPP1):c.1266+28G>A
|
rs115795247
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000391.4(TPP1):c.1146-24C>A
|
rs13377445
|
0.00888
|
NM_000391.4(TPP1):c.1552-54C>T
|
rs113995349
|
0.00882
|
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.1076-66T>A
|
rs113387451
|
0.00625
|
NM_000391.4(TPP1):c.1551+70C>T
|
rs73395131
|
0.00575
|
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.688-43C>T
|
rs144354350
|
0.00372
|
NM_000391.4(TPP1):c.90-44C>T
|
rs147191379
|
0.00348
|
NM_000391.4(TPP1):c.1396G>A (p.Val466Met)
|
rs78970155
|
0.00339
|
NC_000011.10:g.6619625T>C
|
rs573628915
|
0.00326
|
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.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_000391.4(TPP1):c.688-7T>A
|
rs375262484
|
0.00194
|
NM_000391.4(TPP1):c.688-23C>T
|
rs546701146
|
0.00181
|
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.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
NM_000391.3(TPP1):c.-40T>C
|
rs200184958
|
0.00053
|
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.-20C>G
|
rs368143492
|
0.00013
|
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.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.947C>A (p.Ala316Asp)
|
rs149463616
|
0.00007
|
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.508+45G>T
|
rs202153964
|
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_000391.3(TPP1):c.-49T>C
|
rs879531099
|
0.00004
|
NM_000391.4(TPP1):c.-3A>G
|
rs762785189
|
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.1407A>G (p.Pro469=)
|
rs750546113
|
0.00004
|
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys)
|
rs377700188
|
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.509-3C>T
|
rs748156385
|
0.00004
|
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)
|
rs757953998
|
0.00004
|
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.1551+5G>A
|
rs778756815
|
0.00003
|
NM_000391.4(TPP1):c.18-10G>T
|
rs778206032
|
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.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.891G>T (p.Arg297=)
|
rs750527536
|
0.00003
|
NM_000391.4(TPP1):c.90-12C>A
|
rs1213636631
|
0.00003
|
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.1552-9C>T
|
rs369699167
|
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.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
NM_000391.4(TPP1):c.782T>C (p.Val261Ala)
|
rs146136938
|
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.*12C>A
|
rs368345241
|
0.00001
|
NM_000391.4(TPP1):c.-12C>T
|
rs770733577
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1053T>C (p.Gly351=)
|
rs1035964173
|
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.1138G>A (p.Ala380Thr)
|
rs190013230
|
0.00001
|
NM_000391.4(TPP1):c.1146-18G>A
|
rs72909098
|
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.123G>A (p.Ala41=)
|
rs747260298
|
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.1362A>G (p.Ala454=)
|
rs141701073
|
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.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys)
|
rs1476756779
|
0.00001
|
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)
|
rs777267276
|
0.00001
|
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)
|
rs751088292
|
0.00001
|
NM_000391.4(TPP1):c.207G>A (p.Ser69=)
|
rs761070664
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.274del (p.Ser92fs)
|
rs1064793806
|
0.00001
|
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe)
|
rs796053445
|
0.00001
|
NM_000391.4(TPP1):c.380+3G>A
|
rs781744173
|
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.511G>C (p.Gly171Arg)
|
rs994636765
|
0.00001
|
NM_000391.4(TPP1):c.524G>A (p.Arg175His)
|
rs764922748
|
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.775C>T (p.Arg259Cys)
|
rs748038934
|
0.00001
|
NM_000391.4(TPP1):c.80A>G (p.Gln27Arg)
|
rs1271784840
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn)
|
rs796053440
|
0.00001
|
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1
|
|
|
NM_000391.3(TPP1):c.-33C>G
|
rs757508432
|
|
NM_000391.3(TPP1):c.-33C>T
|
rs757508432
|
|
NM_000391.4(TPP1):c.-22A>C
|
rs767860643
|
|
NM_000391.4(TPP1):c.1002C>T (p.Ser334=)
|
rs796053432
|
|
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)
|
rs984125804
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)
|
rs886037833
|
|
NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr)
|
rs1266615275
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg)
|
rs796053442
|
|
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu)
|
rs2134592126
|
|
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg)
|
rs796053434
|
|
NM_000391.4(TPP1):c.1303C>G (p.His435Asp)
|
rs755829911
|
|
NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr)
|
rs1855561762
|
|
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp)
|
rs760974302
|
|
NM_000391.4(TPP1):c.1377C>T (p.Tyr459=)
|
rs1554901573
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly)
|
rs796053433
|
|
NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu)
|
rs796053443
|
|
NM_000391.4(TPP1):c.1407A>T (p.Pro469=)
|
rs750546113
|
|
NM_000391.4(TPP1):c.1426-10A>G
|
rs200965587
|
|
NM_000391.4(TPP1):c.1426-10A>T
|
rs200965587
|
|
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg)
|
rs201847207
|
|
NM_000391.4(TPP1):c.1470G>A (p.Glu490=)
|
rs367681647
|
|
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)
|
rs201126448
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1515A>G (p.Pro505=)
|
rs1057521257
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
|
rs371204585
|
|
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr)
|
rs777744177
|
|
NM_000391.4(TPP1):c.17+17G>A
|
rs1589949703
|
|
NM_000391.4(TPP1):c.186G>C (p.Ser62=)
|
rs1310417118
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly)
|
rs796053435
|
|
NM_000391.4(TPP1):c.206C>G (p.Ser69Trp)
|
rs769028551
|
|
NM_000391.4(TPP1):c.213C>T (p.Pro71=)
|
rs143730817
|
|
NM_000391.4(TPP1):c.216C>A (p.Ser72Arg)
|
rs796053431
|
|
NM_000391.4(TPP1):c.230-19C>T
|
rs1057523929
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.404G>A (p.Gly135Glu)
|
rs796053436
|
|
NM_000391.4(TPP1):c.420C>T (p.His140=)
|
rs1057521538
|
|
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs)
|
rs1554902020
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.520C>T (p.His174Tyr)
|
rs796053438
|
|
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)
|
rs149986601
|
|
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)
|
rs202025584
|
|
NM_000391.4(TPP1):c.67C>T (p.Pro23Ser)
|
rs1855632895
|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
NM_000391.4(TPP1):c.688-18C>G
|
rs376868997
|
|
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr)
|
|
|
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr)
|
rs1855592380
|
|
NM_000391.4(TPP1):c.773C>T (p.Ala258Val)
|
|
|
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)
|
rs1131691539
|
|
NM_000391.4(TPP1):c.828T>C (p.Asp276=)
|
rs1057522366
|
|
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.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.960G>C (p.Val320=)
|
rs1554901808
|
|
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe)
|
rs755386210
|
|