ClinVar Miner

List of variants in gene TPP1

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Gene type:
ClinVar version:
Total variants: 1148
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HGVS dbSNP gnomAD frequency
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_000391.3(TPP1):c.-238T>C rs1800752 0.34997
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.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.*71G>A rs140680586 0.01221
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.*986C>G rs188148381 0.00455
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_000391.4(TPP1):c.*1540T>C rs374146578 0.00387
NM_000391.4(TPP1):c.688-43C>T rs144354350 0.00372
NM_000391.4(TPP1):c.229+181A>C rs189816289 0.00351
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.*1250T>A rs193029892 0.00215
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.*1570C>T rs369352772 0.00175
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.*829C>T rs533616443 0.00062
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.*1282C>A rs1032115129 0.00042
NM_000391.4(TPP1):c.*312T>C rs201122774 0.00041
NM_000391.4(TPP1):c.*314del rs202155605 0.00041
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.*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.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.*1774G>A rs886048532 0.00015
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.*346A>G rs149218047 0.00010
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021 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.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.*1412T>G rs886048535 0.00006
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.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.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_000391.3(TPP1):c.-49T>C rs879531099 0.00004
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.-3A>G rs762785189 0.00004
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.*44T>A rs370517226 0.00003
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.1551+5G>A rs778756815 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.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.*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.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.*12C>A rs368345241 0.00001
NM_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*1715T>C rs886048533 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 0.00001
NM_000391.4(TPP1):c.*668C>A rs886048539 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.-12C>T rs770733577 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.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.1205A>G (p.Glu402Gly) rs1471156821 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.1552-1G>A rs1057516511 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.1588G>A (p.Glu530Lys) rs1476756779 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.1642T>C (p.Trp548Arg) rs1348967263 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.37C>T (p.Leu13Phe) rs796053445 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.80A>G (p.Gln27Arg) rs1271784840 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.845G>A (p.Ser282Asn) rs796053440 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
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1
NC_000011.10:g.6615330del rs2134591803
NC_000011.10:g.6618916del
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-33C>T rs757508432
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
NM_000391.4(TPP1):c.*1216dup rs575737269
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.-22A>C rs767860643
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.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.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.1020_1021del (p.Asn341fs)
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.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg) rs764077257
NM_000391.4(TPP1):c.1039G>C (p.Ala347Pro)
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
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.1057A>C (p.Thr353Pro) rs121908206
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.1069G>A (p.Ala357Thr) rs1266615275
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.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1083T>C (p.Ser361=)
NM_000391.4(TPP1):c.1086G>C (p.Gly362=)
NM_000391.4(TPP1):c.1087del (p.Ala363fs) rs2134592949
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.1098G>A (p.Trp366Ter) rs1564854729
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.1104dup (p.Ser369fs)
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.1146-199G>A
NM_000391.4(TPP1):c.1146-19T>C
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
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.1168G>C (p.Gly390Arg)
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
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.1190T>G (p.Phe397Cys)
NM_000391.4(TPP1):c.1194C>G (p.Leu398=)
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
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.1213_1214delinsT (p.Asp405fs)
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.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1245G>A (p.Val415=)
NM_000391.4(TPP1):c.1247T>A (p.Phe416Tyr) rs1855565943
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
NM_000391.4(TPP1):c.1255C>G (p.Pro419Ala)
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
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.1266_1266+1delinsTACAAACAAACA
NM_000391.4(TPP1):c.1267-2A>G rs1855562978
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
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.1288_1289dup (p.Leu430_Ser431insTer) rs2134591764
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg) rs796053434
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.130G>T (p.Glu44Ter) rs2134598107
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.1319G>C (p.Ser440Thr) rs1855561762
NM_000391.4(TPP1):c.1323_1326del (p.Ser440_Tyr441insTer) rs2134591716
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp) rs760974302
NM_000391.4(TPP1):c.1331C>T (p.Ala444Val)
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000391.4(TPP1):c.1334G>A (p.Ser445Asn)
NM_000391.4(TPP1):c.1338C>T (p.Gly446=)
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) rs119455956
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>A (p.Asp451Asn)
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.1362A>T (p.Ala454=) rs141701073
NM_000391.4(TPP1):c.1363_1425+9del rs2134591509
NM_000391.4(TPP1):c.1367C>A (p.Ser456Tyr)
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.1377C>T (p.Tyr459=) rs1554901573
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1380G>C (p.Trp460Cys)
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) rs796053433
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.1402A>C (p.Ile468Leu) rs796053443
NM_000391.4(TPP1):c.1407A>T (p.Pro469=) rs750546113
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>G (p.Thr474=)
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+1G>A
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.1444G>C (p.Gly482Arg) rs121908208
NM_000391.4(TPP1):c.1449G>A (p.Gly483=) rs1589947511
NM_000391.4(TPP1):c.1449G>C (p.Gly483=)
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1450A>C (p.Ile484Leu) rs1564854194
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
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.147del (p.Thr50fs)
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.1515A>G (p.Pro505=) rs1057521257
NM_000391.4(TPP1):c.1518G>A (p.Arg506=)
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=) rs2134590875
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>A (p.Glu524Lys) rs1157546558
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.1611_1621del (p.Cys537fs) rs1554901463
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.1630C>T (p.Pro544Ser) rs121908210
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.1661dup (p.Ala555fs) rs1057516579
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.1679T>C (p.Leu560Pro)
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.18-5T>C rs1855634037
NM_000391.4(TPP1):c.18-6C>T rs1416058431
NM_000391.4(TPP1):c.18-7C>T rs1855634111
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.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.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.206C>G (p.Ser69Trp) rs769028551
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>A (p.Ser72Arg) rs796053431
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.230-19C>T rs1057523929
NM_000391.4(TPP1):c.230-1G>A
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.230-2A>G
NM_000391.4(TPP1):c.230-6C>T
NM_000391.4(TPP1):c.230-7C>T rs1855609354
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
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.262_270delinsAT (p.Leu88fs)
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>A (p.Val99Met)
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.35C>T (p.Ala12Val) rs1855633689
NM_000391.4(TPP1):c.365G>T (p.Cys122Phe)
NM_000391.4(TPP1):c.36C>T (p.Ala12=) rs2134598867
NM_000391.4(TPP1):c.373A>G (p.Ser125Gly)
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.380+5G>A rs1564855725
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.404G>A (p.Gly135Glu) rs796053436
NM_000391.4(TPP1):c.408T>C (p.Ala136=)
NM_000391.4(TPP1):c.408del (p.Glu137fs) rs2134595789
NM_000391.4(TPP1):c.415C>T (p.His139Tyr)
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.422dup (p.Tyr141Ter) rs1554902043
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>G (p.Thr146Ala)
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.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.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+2dup rs1554902017
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>A (p.Val170=) rs751488322
NM_000391.4(TPP1):c.510G>C (p.Val170=)
NM_000391.4(TPP1):c.513G>A (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) rs1368354280
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.533del (p.Pro178fs) rs1855599044
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.545T>C (p.Leu182Pro)
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.553C>G (p.Arg185Gly)
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.580G>A (p.Val194Ile) rs1303710593
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=)
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)
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)
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)
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
NM_000391.4(TPP1):c.63C>T (p.Tyr21=) rs1279298400
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
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.67C>T (p.Pro23Ser) rs1855632895
NM_000391.4(TPP1):c.687+10G>A
NM_000391.4(TPP1):c.687+15G>A
NM_000391.4(TPP1):c.687+17G>T
NM_000391.4(TPP1):c.687+19C>T
NM_000391.4(TPP1):c.687+1G>C rs1465284719
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.687+2T>A
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.687+8A>T
NM_000391.4(TPP1):c.687+9A>G rs868837063
NM_000391.4(TPP1):c.688-13A>G
NM_000391.4(TPP1):c.688-13A>T rs755740699
NM_000391.4(TPP1):c.688-16C>A
NM_000391.4(TPP1):c.688-17T>C
NM_000391.4(TPP1):c.688-18C>G rs376868997
NM_000391.4(TPP1):c.688-1G>T rs1855593862
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.689del (p.Phe230fs) rs1554901898
NM_000391.4(TPP1):c.68C>A (p.Pro23Gln)
NM_000391.4(TPP1):c.68C>G (p.Pro23Arg) rs2134598745
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.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) rs587780481
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr)
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.760C>T (p.Gln254Ter)
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.767C>A (p.Ser256Ter)
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.808G>C (p.Gly270Arg)
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.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg) rs2134594286
NM_000391.4(TPP1):c.828T>C (p.Asp276=) rs1057522366
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.82C>T (p.Arg28Trp) rs771499448
NM_000391.4(TPP1):c.831G>A (p.Val277=)
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.837C>T (p.Tyr279=)
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) rs776489592
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.860T>A (p.Ile287Asn) rs121908196
NM_000391.4(TPP1):c.86G>A (p.Arg29Lys)
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
NM_000391.4(TPP1):c.879T>G (p.Ser293Arg) rs1589948383
NM_000391.4(TPP1):c.880A>T (p.Ser294Cys) rs1589948382
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.887-10_887-6del rs35039601
NM_000391.4(TPP1):c.887-15A>G rs1855588508
NM_000391.4(TPP1):c.887-5_887-4del
NM_000391.4(TPP1):c.887-5del rs886048540
NM_000391.4(TPP1):c.887-6A>C rs1855588179
NM_000391.4(TPP1):c.887-6_887-5del rs886048541
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7A>T
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.887-9_887-6del rs35039601
NM_000391.4(TPP1):c.887G>A (p.Gly296Asp)
NM_000391.4(TPP1):c.889C>G (p.Arg297Gly)
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) rs1855632314
NM_000391.4(TPP1):c.89+1G>A rs1855631590
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.899del (p.Gly300fs) rs2134593910
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.904G>T (p.Glu302Ter)
NM_000391.4(TPP1):c.905A>G (p.Glu302Gly)
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.958G>A (p.Val320Met)
NM_000391.4(TPP1):c.960G>A (p.Val320=)
NM_000391.4(TPP1):c.960G>C (p.Val320=) rs1554901808
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.987_989del (p.Glu329del) rs1222920812
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=)

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