ClinVar Miner

List of variants studied for Sphingolipid activator protein 1 deficiency

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ClinVar version:
Total variants: 797
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34527
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_002778.4(PSAP):c.1431+116C>T rs749823 0.20609
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.14035
NM_002778.4(PSAP):c.1540-34C>T rs4747202 0.13788
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_002778.4(PSAP):c.909+32G>T rs41307569 0.06451
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00259
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00251
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00178
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00125
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00088
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00052
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.577G>C (p.Asp193His) rs149305591 0.00039
NM_002778.4(PSAP):c.966G>A (p.Val322=) rs139413990 0.00037
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_002778.4(PSAP):c.-28A>C rs375720661 0.00028
NM_002778.4(PSAP):c.721-13T>C rs370875535 0.00025
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) rs532242066 0.00024
NM_002778.4(PSAP):c.250-5C>T rs370622849 0.00022
NM_002778.4(PSAP):c.582T>C (p.Asn194=) rs150177878 0.00022
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln) rs149000433 0.00021
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00019
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) rs750239809 0.00019
NM_002778.4(PSAP):c.1338T>C (p.Pro446=) rs138217875 0.00018
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00018
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) rs138716613 0.00014
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) rs759402008 0.00014
NM_002778.4(PSAP):c.1192+6C>T rs374560502 0.00012
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00012
NM_002778.4(PSAP):c.577-14T>G rs756487651 0.00012
NM_002778.4(PSAP):c.1006-12C>T rs367693244 0.00011
NM_002778.4(PSAP):c.1193-18C>T rs200988983 0.00011
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) rs558427025 0.00011
NM_002778.4(PSAP):c.293C>T (p.Pro98Leu) rs372856811 0.00011
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.1006-11G>A rs375537927 0.00009
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=) rs200226479 0.00009
NM_002778.4(PSAP):c.175-19C>A rs150679635 0.00009
NM_002778.4(PSAP):c.550G>A (p.Gly184Ser) rs771554601 0.00009
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) rs150521779 0.00009
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00009
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00008
NM_002778.4(PSAP):c.1106T>C (p.Leu369Pro) rs772105675 0.00008
NM_002778.4(PSAP):c.1559G>A (p.Arg520His) rs545627914 0.00008
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_002778.4(PSAP):c.718A>G (p.Ile240Val) rs745994939 0.00008
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00007
NM_002778.4(PSAP):c.1350+9C>T rs747430592 0.00007
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00007
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00007
NM_002778.4(PSAP):c.864C>T (p.Ala288=) rs747491605 0.00007
NM_002778.4(PSAP):c.960C>T (p.Phe320=) rs369725602 0.00007
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.*9A>G rs376628499 0.00006
NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu) rs201129306 0.00006
NM_002778.4(PSAP):c.1215C>T (p.Asp405=) rs567165839 0.00006
NM_002778.4(PSAP):c.1311G>A (p.Glu437=) rs149525964 0.00006
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.763A>G (p.Met255Val) rs773349568 0.00006
NM_002778.4(PSAP):c.865T>C (p.Ser289Pro) rs145404688 0.00006
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00005
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00005
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 0.00005
NM_002778.4(PSAP):c.113C>T (p.Thr38Met) rs145181011 0.00005
NM_002778.4(PSAP):c.1280G>A (p.Ser427Asn) rs748633704 0.00005
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_002778.4(PSAP):c.28C>T (p.Leu10Phe) rs779742363 0.00005
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00005
NM_002778.4(PSAP):c.549C>T (p.Asp183=) rs142002239 0.00005
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) rs772161921 0.00005
NM_002778.4(PSAP):c.852C>T (p.Pro284=) rs370435627 0.00005
NM_002778.4(PSAP):c.940T>C (p.Tyr314His) rs202041927 0.00005
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_002778.4(PSAP):c.1005+12T>C rs778093667 0.00004
NM_002778.4(PSAP):c.1035G>A (p.Met345Ile) rs545307941 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_002778.4(PSAP):c.1415C>T (p.Pro472Leu) rs751557455 0.00004
NM_002778.4(PSAP):c.1539+20G>A rs372772165 0.00004
NM_002778.4(PSAP):c.1540-8C>G rs997903652 0.00004
NM_002778.4(PSAP):c.214G>A (p.Ala72Thr) rs150701404 0.00004
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) rs770893932 0.00004
NM_002778.4(PSAP):c.37G>T (p.Ala13Ser) rs1327390670 0.00004
NM_002778.4(PSAP):c.41-17_41-9dup rs768077397 0.00004
NM_002778.4(PSAP):c.576+11G>A rs371681572 0.00004
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) rs191952316 0.00004
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys) rs759590269 0.00004
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) rs773913014 0.00004
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) rs774482765 0.00004
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.1006-20G>A rs751608981 0.00003
NM_002778.4(PSAP):c.1033A>G (p.Met345Val) rs773630153 0.00003
NM_002778.4(PSAP):c.1050G>A (p.Pro350=) rs761826289 0.00003
NM_002778.4(PSAP):c.1161C>G (p.Leu387=) rs927307280 0.00003
NM_002778.4(PSAP):c.1174C>T (p.Arg392Trp) rs554525095 0.00003
NM_002778.4(PSAP):c.1175G>A (p.Arg392Gln) rs754208657 0.00003
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00003
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro) rs958206407 0.00003
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555 0.00003
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) rs1295313912 0.00003
NM_002778.4(PSAP):c.139C>T (p.His47Tyr) rs568874696 0.00003
NM_002778.4(PSAP):c.1432-3T>C rs200577646 0.00003
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) rs143773764 0.00003
NM_002778.4(PSAP):c.154G>A (p.Val52Ile) rs147920923 0.00003
NM_002778.4(PSAP):c.250-4G>A rs568499058 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.414C>T (p.Cys138=) rs769564352 0.00003
NM_002778.4(PSAP):c.48C>T (p.Ala16=) rs199808371 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.621C>T (p.Asp207=) rs140702696 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.802G>A (p.Val268Ile) rs774017744 0.00003
NM_002778.4(PSAP):c.830T>G (p.Met277Arg) rs772914489 0.00003
NM_002778.4(PSAP):c.847G>C (p.Val283Leu) rs769402755 0.00003
NM_002778.4(PSAP):c.859G>T (p.Val287Leu) rs907954436 0.00003
NM_002778.4(PSAP):c.894G>A (p.Leu298=) rs150048951 0.00003
NM_002778.4(PSAP):c.910-13A>G rs370155869 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) rs113679008 0.00002
NM_002778.4(PSAP):c.1057C>G (p.Leu353Val) rs752502422 0.00002
NM_002778.4(PSAP):c.1067A>G (p.Glu356Gly) rs763529106 0.00002
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298 0.00002
NM_002778.4(PSAP):c.10C>G (p.Leu4Val) rs574280149 0.00002
NM_002778.4(PSAP):c.1114C>T (p.Leu372=) rs745951723 0.00002
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1191C>T (p.Thr397=) rs759580183 0.00002
NM_002778.4(PSAP):c.1233G>T (p.Val411=) rs751867103 0.00002
NM_002778.4(PSAP):c.1252T>C (p.Tyr418His) rs764156331 0.00002
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) rs554592821 0.00002
NM_002778.4(PSAP):c.1282A>G (p.Thr428Ala) rs200379457 0.00002
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) rs761967647 0.00002
NM_002778.4(PSAP):c.1350+17G>C rs1227201557 0.00002
NM_002778.4(PSAP):c.1514A>G (p.Asn505Ser) rs781180772 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.1540-10C>T rs531023925 0.00002
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) rs539091862 0.00002
NM_002778.4(PSAP):c.174+10G>A rs375887783 0.00002
NM_002778.4(PSAP):c.337T>G (p.Tyr113Asp) rs762050153 0.00002
NM_002778.4(PSAP):c.342C>G (p.Leu114=) rs1449386460 0.00002
NM_002778.4(PSAP):c.354G>C (p.Leu118=) rs759556759 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.405C>T (p.Leu135=) rs377181245 0.00002
NM_002778.4(PSAP):c.407A>G (p.Asn136Ser) rs374177795 0.00002
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) rs753606836 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser) rs374922455 0.00002
NM_002778.4(PSAP):c.507C>T (p.Ala169=) rs765156362 0.00002
NM_002778.4(PSAP):c.524T>C (p.Ile175Thr) rs1036922785 0.00002
NM_002778.4(PSAP):c.53C>T (p.Pro18Leu) rs370107124 0.00002
NM_002778.4(PSAP):c.629C>A (p.Thr210Asn) rs774029071 0.00002
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) rs770171865 0.00002
NM_002778.4(PSAP):c.721-11T>C rs758077180 0.00002
NM_002778.4(PSAP):c.777+1915C>T rs759960679 0.00002
NM_002778.4(PSAP):c.778-8C>G rs750717205 0.00002
NM_002778.4(PSAP):c.879C>T (p.Ile293=) rs1199611460 0.00002
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) rs1431665170 0.00002
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*73C>T rs541692197 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00001
NM_002778.4(PSAP):c.1005+19A>G rs1444330302 0.00001
NM_002778.4(PSAP):c.1006-16C>G rs754297002 0.00001
NM_002778.4(PSAP):c.1006-7G>A rs372177796 0.00001
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) rs759154767 0.00001
NM_002778.4(PSAP):c.1029C>T (p.Asp343=) rs199650747 0.00001
NM_002778.4(PSAP):c.1040C>T (p.Ser347Leu) rs768846459 0.00001
NM_002778.4(PSAP):c.1059G>C (p.Leu353=) rs1303119734 0.00001
NM_002778.4(PSAP):c.1062G>A (p.Ser354=) rs1486812963 0.00001
NM_002778.4(PSAP):c.1063G>C (p.Glu355Gln) rs754626939 0.00001
NM_002778.4(PSAP):c.1064A>C (p.Glu355Ala) rs751144199 0.00001
NM_002778.4(PSAP):c.1073A>T (p.Gln358Leu) rs773659954 0.00001
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) rs2133031778 0.00001
NM_002778.4(PSAP):c.1089G>A (p.Thr363=) rs1307052772 0.00001
NM_002778.4(PSAP):c.1093G>T (p.Gly365Cys) rs747170456 0.00001
NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr) rs775563822 0.00001
NM_002778.4(PSAP):c.1128C>T (p.Val376=) rs1287661070 0.00001
NM_002778.4(PSAP):c.1130G>A (p.Ser377Asn) rs1234853998 0.00001
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1169G>T (p.Gly390Val) rs1270266148 0.00001
NM_002778.4(PSAP):c.1170C>T (p.Gly390=) rs757887601 0.00001
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) rs368085481 0.00001
NM_002778.4(PSAP):c.1179G>A (p.Leu393=) rs761017736 0.00001
NM_002778.4(PSAP):c.1180C>T (p.Pro394Ser) rs535856610 0.00001
NM_002778.4(PSAP):c.1192+12G>T rs776191919 0.00001
NM_002778.4(PSAP):c.1192+17G>A rs1449279176 0.00001
NM_002778.4(PSAP):c.1192+20C>T rs768629606 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.1193-15T>G rs771629672 0.00001
NM_002778.4(PSAP):c.1193-17G>A rs779860250 0.00001
NM_002778.4(PSAP):c.1195C>T (p.His399Tyr) rs1199524086 0.00001
NM_002778.4(PSAP):c.119C>A (p.Ser40Tyr) rs770449086 0.00001
NM_002778.4(PSAP):c.1201A>C (p.Thr401Pro) rs778297201 0.00001
NM_002778.4(PSAP):c.1219G>A (p.Gly407Ser) rs753089339 0.00001
NM_002778.4(PSAP):c.121G>A (p.Asp41Asn) rs376639872 0.00001
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) rs147030327 0.00001
NM_002778.4(PSAP):c.1236C>T (p.Cys412=) rs766505800 0.00001
NM_002778.4(PSAP):c.125G>A (p.Cys42Tyr) rs1171277739 0.00001
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024 0.00001
NM_002778.4(PSAP):c.126C>T (p.Cys42=) rs372943091 0.00001
NM_002778.4(PSAP):c.1274A>G (p.Lys425Arg) rs748822422 0.00001
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) rs751839091 0.00001
NM_002778.4(PSAP):c.12C>T (p.Leu4=) rs1457254996 0.00001
NM_002778.4(PSAP):c.1308T>G (p.Leu436=) rs1397067517 0.00001
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) rs540436494 0.00001
NM_002778.4(PSAP):c.1323C>T (p.Ser441=) rs1419823465 0.00001
NM_002778.4(PSAP):c.1328T>C (p.Leu443Pro) rs1842249179 0.00001
NM_002778.4(PSAP):c.1342C>G (p.Gln448Glu) rs373185501 0.00001
NM_002778.4(PSAP):c.1350+10G>A rs542537706 0.00001
NM_002778.4(PSAP):c.1350+15G>A rs574811418 0.00001
NM_002778.4(PSAP):c.1350+20G>C rs932909129 0.00001
NM_002778.4(PSAP):c.1350+4C>T rs769353440 0.00001
NM_002778.4(PSAP):c.1350+8C>T rs781743080 0.00001
NM_002778.4(PSAP):c.1351-15C>T rs1434032411 0.00001
NM_002778.4(PSAP):c.1395C>A (p.Ile465=) rs1216069938 0.00001
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) rs1842236573 0.00001
NM_002778.4(PSAP):c.141C>T (p.His47=) rs759428533 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_002778.4(PSAP):c.1431+11C>G rs374937004 0.00001
NM_002778.4(PSAP):c.1431+7C>G rs1396852731 0.00001
NM_002778.4(PSAP):c.1432-19T>C rs763768157 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.147G>A (p.Leu49=) rs112119208 0.00001
NM_002778.4(PSAP):c.1539+6T>G rs1486410213 0.00001
NM_002778.4(PSAP):c.1540-5A>G rs777561159 0.00001
NM_002778.4(PSAP):c.1545C>T (p.Val515=) rs755848707 0.00001
NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys) rs563727360 0.00001
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) rs780990521 0.00001
NM_002778.4(PSAP):c.166C>T (p.Pro56Ser) rs754702748 0.00001
NM_002778.4(PSAP):c.174+16C>T rs963186566 0.00001
NM_002778.4(PSAP):c.174+17T>C rs1589454166 0.00001
NM_002778.4(PSAP):c.175-16G>A rs772354701 0.00001
NM_002778.4(PSAP):c.175-17C>T rs1389573032 0.00001
NM_002778.4(PSAP):c.175-5C>G rs771134177 0.00001
NM_002778.4(PSAP):c.186C>T (p.Pro62=) rs749422368 0.00001
NM_002778.4(PSAP):c.19C>T (p.Leu7=) rs768373930 0.00001
NM_002778.4(PSAP):c.205G>A (p.Val69Ile) rs1290075693 0.00001
NM_002778.4(PSAP):c.213C>T (p.Thr71=) rs765022811 0.00001
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) rs570654892 0.00001
NM_002778.4(PSAP):c.249+10G>A rs1454831195 0.00001
NM_002778.4(PSAP):c.249+15G>A rs749419007 0.00001
NM_002778.4(PSAP):c.249+9C>T rs771189289 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.267C>T (p.Tyr89=) rs1229121337 0.00001
NM_002778.4(PSAP):c.268T>C (p.Leu90=) rs954076104 0.00001
NM_002778.4(PSAP):c.270G>A (p.Leu90=) rs937623244 0.00001
NM_002778.4(PSAP):c.291T>A (p.Leu97=) rs375977785 0.00001
NM_002778.4(PSAP):c.294G>A (p.Pro98=) rs752253216 0.00001
NM_002778.4(PSAP):c.325A>T (p.Ile109Leu) rs750768608 0.00001
NM_002778.4(PSAP):c.348C>G (p.Val116=) rs1193323247 0.00001
NM_002778.4(PSAP):c.351C>A (p.Ile117=) rs1411937746 0.00001
NM_002778.4(PSAP):c.358A>G (p.Ile120Val) rs142784765 0.00001
NM_002778.4(PSAP):c.376-15T>C rs1160181309 0.00001
NM_002778.4(PSAP):c.376-3C>T rs1444728021 0.00001
NM_002778.4(PSAP):c.376-6C>T rs1246858301 0.00001
NM_002778.4(PSAP):c.376-9T>C rs1008892591 0.00001
NM_002778.4(PSAP):c.38C>T (p.Ala13Val) rs1022105024 0.00001
NM_002778.4(PSAP):c.397T>C (p.Ser133Pro) rs2133045059 0.00001
NM_002778.4(PSAP):c.40+6C>T rs2133075231 0.00001
NM_002778.4(PSAP):c.41-16T>C rs766446849 0.00001
NM_002778.4(PSAP):c.41-20C>T rs1201365935 0.00001
NM_002778.4(PSAP):c.411C>T (p.Leu137=) rs2494526538 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.428A>G (p.Lys143Arg) rs768267507 0.00001
NM_002778.4(PSAP):c.429G>C (p.Lys143Asn) rs573587297 0.00001
NM_002778.4(PSAP):c.438A>G (p.Ala146=) rs758862885 0.00001
NM_002778.4(PSAP):c.439G>A (p.Glu147Lys) rs1208872129 0.00001
NM_002778.4(PSAP):c.456G>C (p.Lys152Asn) rs1302474021 0.00001
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser) rs756379007 0.00001
NM_002778.4(PSAP):c.489C>T (p.Asp163=) rs762802593 0.00001
NM_002778.4(PSAP):c.490A>G (p.Met164Val) rs1842455358 0.00001
NM_002778.4(PSAP):c.54G>A (p.Pro18=) rs778317867 0.00001
NM_002778.4(PSAP):c.576+10C>T rs765209148 0.00001
NM_002778.4(PSAP):c.576+1G>A rs949729827 0.00001
NM_002778.4(PSAP):c.576+9A>G rs1842451379 0.00001
NM_002778.4(PSAP):c.577-11C>T rs1211889492 0.00001
NM_002778.4(PSAP):c.585G>A (p.Gly195=) rs1169242345 0.00001
NM_002778.4(PSAP):c.591T>G (p.Val197=) rs1387039570 0.00001
NM_002778.4(PSAP):c.607del (p.Gln203fs) rs1489308019 0.00001
NM_002778.4(PSAP):c.609G>A (p.Gln203=) rs1842430531 0.00001
NM_002778.4(PSAP):c.60T>C (p.Leu20=) rs188252882 0.00001
NM_002778.4(PSAP):c.642C>T (p.Thr214=) rs1842429688 0.00001
NM_002778.4(PSAP):c.648C>T (p.Ser216=) rs545071203 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002778.4(PSAP):c.663C>T (p.Ala221=) rs780126150 0.00001
NM_002778.4(PSAP):c.687G>A (p.Glu229=) rs752555251 0.00001
NM_002778.4(PSAP):c.692A>G (p.Asp231Gly) rs767173061 0.00001
NM_002778.4(PSAP):c.694C>T (p.Arg232Cys) rs1466736493 0.00001
NM_002778.4(PSAP):c.702C>T (p.Gly234=) rs559897366 0.00001
NM_002778.4(PSAP):c.717C>T (p.Asp239=) rs879066464 0.00001
NM_002778.4(PSAP):c.720+1G>A rs971589777 0.00001
NM_002778.4(PSAP):c.720A>G (p.Ile240Met) rs1365266690 0.00001
NM_002778.4(PSAP):c.721-19T>G rs751395165 0.00001
NM_002778.4(PSAP):c.721-20A>G rs1434833385 0.00001
NM_002778.4(PSAP):c.721-8C>T rs749984517 0.00001
NM_002778.4(PSAP):c.721-9T>C rs1175109637 0.00001
NM_002778.4(PSAP):c.723C>T (p.Cys241=) rs147805036 0.00001
NM_002778.4(PSAP):c.727A>G (p.Asn243Asp) rs747236402 0.00001
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) rs146732171 0.00001
NM_002778.4(PSAP):c.769A>T (p.Met257Leu) rs772301464 0.00001
NM_002778.4(PSAP):c.76A>G (p.Thr26Ala) rs1322184020 0.00001
NM_002778.4(PSAP):c.771G>A (p.Met257Ile) rs1483269733 0.00001
NM_002778.4(PSAP):c.775A>G (p.Met259Val) rs2133040449 0.00001
NM_002778.4(PSAP):c.777+11C>T rs749373571 0.00001
NM_002778.4(PSAP):c.777+12G>A rs533983482 0.00001
NM_002778.4(PSAP):c.777+16G>T rs371763868 0.00001
NM_002778.4(PSAP):c.777+18C>T rs779957575 0.00001
NM_002778.4(PSAP):c.777+19C>G rs758128390 0.00001
NM_002778.4(PSAP):c.784A>G (p.Lys262Glu) rs1842310521 0.00001
NM_002778.4(PSAP):c.791T>A (p.Ile264Asn) rs776833741 0.00001
NM_002778.4(PSAP):c.807G>C (p.Gly269=) rs1268577104 0.00001
NM_002778.4(PSAP):c.834C>T (p.Pro278=) rs2133035278 0.00001
NM_002778.4(PSAP):c.849C>A (p.Val283=) rs747705833 0.00001
NM_002778.4(PSAP):c.856A>G (p.Lys286Glu) rs1376075974 0.00001
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) rs758866050 0.00001
NM_002778.4(PSAP):c.87G>A (p.Ser29=) rs764061004 0.00001
NM_002778.4(PSAP):c.885C>T (p.Ala295=) rs563653978 0.00001
NM_002778.4(PSAP):c.909+18G>A rs1842305723 0.00001
NM_002778.4(PSAP):c.910-2A>G rs779384030 0.00001
NM_002778.4(PSAP):c.910-6C>G rs746262168 0.00001
NM_002778.4(PSAP):c.910-7T>C rs758811581 0.00001
NM_002778.4(PSAP):c.915C>T (p.His305=) rs377732178 0.00001
NM_002778.4(PSAP):c.928A>G (p.Lys310Glu) rs752687627 0.00001
NM_002778.4(PSAP):c.930G>A (p.Lys310=) rs939130175 0.00001
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) rs1589447082 0.00001
NM_002778.4(PSAP):c.9C>T (p.Ala3=) rs769671646 0.00001
NC_000010.10:g.(?_73499381)_(73862745_?)dup
NC_000010.10:g.(?_73569557)_(73594282_?)dup
NC_000010.10:g.(?_73578585)_(73581640_?)del
NC_000010.10:g.(?_73587751)_(73610978_?)del
NC_000010.10:g.(?_73587761)_(73588844_?)del
NC_000010.10:g.(?_73610929)_(73610988_?)del
NC_000010.11:g.(?_71828004)_(71834515_?)dup
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1005+11C>T
NM_002778.4(PSAP):c.1005+13C>G rs2494500115
NM_002778.4(PSAP):c.1005+15T>C rs2494500106
NM_002778.4(PSAP):c.1005+1G>A rs113365744
NM_002778.4(PSAP):c.1005+1G>C rs113365744
NM_002778.4(PSAP):c.1006-11G>C rs375537927
NM_002778.4(PSAP):c.1006-11G>T rs375537927
NM_002778.4(PSAP):c.1006-11GT[2] rs1238736249
NM_002778.4(PSAP):c.1006-14C>T rs778873248
NM_002778.4(PSAP):c.1006-19A>T rs2133032097
NM_002778.4(PSAP):c.1006-2A>G rs1589446748
NM_002778.4(PSAP):c.1006-9G>A rs1464896406
NM_002778.4(PSAP):c.1008A>G (p.Lys336=)
NM_002778.4(PSAP):c.100del (p.Gln34fs) rs2494541782
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) rs146778046
NM_002778.4(PSAP):c.1035G>T (p.Met345Ile) rs545307941
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) rs747117207
NM_002778.4(PSAP):c.1045C>T (p.Leu349=) rs780071643
NM_002778.4(PSAP):c.1049C>G (p.Pro350Arg) rs201129306
NM_002778.4(PSAP):c.1050G>C (p.Pro350=) rs761826289
NM_002778.4(PSAP):c.1050G>T (p.Pro350=) rs761826289
NM_002778.4(PSAP):c.1050dup (p.Lys351fs) rs2494498363
NM_002778.4(PSAP):c.1053G>A (p.Lys351=) rs2494498331
NM_002778.4(PSAP):c.1065A>G (p.Glu355=) rs2494498249
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter) rs2494498245
NM_002778.4(PSAP):c.1067A>C (p.Glu356Ala) rs763529106
NM_002778.4(PSAP):c.1074G>C (p.Gln358His) rs1842259918
NM_002778.4(PSAP):c.1075G>A (p.Glu359Lys)
NM_002778.4(PSAP):c.1081G>A (p.Val361Met) rs2133031763
NM_002778.4(PSAP):c.1083G>A (p.Val361=) rs2133031749
NM_002778.4(PSAP):c.1088C>G (p.Thr363Arg) rs140066253
NM_002778.4(PSAP):c.1089G>C (p.Thr363=) rs1307052772
NM_002778.4(PSAP):c.1093G>A (p.Gly365Ser) rs747170456
NM_002778.4(PSAP):c.1095C>T (p.Gly365=) rs2494498006
NM_002778.4(PSAP):c.10C>T (p.Leu4Phe) rs574280149
NM_002778.4(PSAP):c.1104C>T (p.Ile368=) rs2494497960
NM_002778.4(PSAP):c.1107G>C (p.Leu369=) rs2494497938
NM_002778.4(PSAP):c.1110C>T (p.Ser370=) rs2494497929
NM_002778.4(PSAP):c.1113C>T (p.Ile371=) rs1842258530
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) rs1204739286
NM_002778.4(PSAP):c.1119G>A (p.Leu373=) rs1253208545
NM_002778.4(PSAP):c.1119G>T (p.Leu373=) rs1253208545
NM_002778.4(PSAP):c.1120del (p.Glu374fs) rs2133031639
NM_002778.4(PSAP):c.1122G>A (p.Glu374=) rs775169672
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) rs775169672
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) rs754680319
NM_002778.4(PSAP):c.1149C>T (p.Ser383=) rs2494497668
NM_002778.4(PSAP):c.114G>A (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.114G>C (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.1155G>A (p.Leu385=) rs2133031527
NM_002778.4(PSAP):c.1155G>T (p.Leu385=) rs2133031527
NM_002778.4(PSAP):c.1158C>T (p.His386=) rs2133031525
NM_002778.4(PSAP):c.1161C>T (p.Leu387=) rs927307280
NM_002778.4(PSAP):c.1185A>C (p.Ala395=) rs2494497507
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) rs759580183
NM_002778.4(PSAP):c.1192+11G>A rs2494497457
NM_002778.4(PSAP):c.1192+12G>A rs776191919
NM_002778.4(PSAP):c.1192+13T>A rs781147685
NM_002778.4(PSAP):c.1192+14G>T rs1842255507
NM_002778.4(PSAP):c.1192+18T>C
NM_002778.4(PSAP):c.1192+18T>G
NM_002778.4(PSAP):c.1192+7G>A rs1842255678
NM_002778.4(PSAP):c.1192+7G>T rs1842255678
NM_002778.4(PSAP):c.1193-11C>G rs745471135
NM_002778.4(PSAP):c.1193-12C>A rs1389422529
NM_002778.4(PSAP):c.1193-14G>A rs1454774084
NM_002778.4(PSAP):c.1193-17G>C rs779860250
NM_002778.4(PSAP):c.1193-18C>G rs200988983
NM_002778.4(PSAP):c.1193-1G>C rs2494497146
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002778.4(PSAP):c.1193-9C>T rs1190970898
NM_002778.4(PSAP):c.1198G>A (p.Val400Met) rs1210917733
NM_002778.4(PSAP):c.1204C>A (p.Gln402Lys) rs2133031097
NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter) rs2133031097
NM_002778.4(PSAP):c.1227C>G (p.Cys409Trp) rs147030327
NM_002778.4(PSAP):c.1233G>A (p.Val411=) rs751867103
NM_002778.4(PSAP):c.1243C>G (p.Leu415Val) rs2133030948
NM_002778.4(PSAP):c.1245G>T (p.Leu415=) rs2494496813
NM_002778.4(PSAP):c.1260T>C (p.Asp420=) rs2494496742
NM_002778.4(PSAP):c.1262G>A (p.Arg421His) rs774088864
NM_002778.4(PSAP):c.1262G>T (p.Arg421Leu) rs774088864
NM_002778.4(PSAP):c.1266C>G (p.Asn422Lys) rs371197152
NM_002778.4(PSAP):c.1267C>T (p.Leu423=) rs2494496672
NM_002778.4(PSAP):c.1268del (p.Leu423fs) rs1564815053
NM_002778.4(PSAP):c.1287G>C (p.Lys429Asn) rs1295313912
NM_002778.4(PSAP):c.1291G>A (p.Glu431Lys) rs973035615
NM_002778.4(PSAP):c.1296C>T (p.Ile432=) rs144042454
NM_002778.4(PSAP):c.1297C>T (p.Leu433=) rs761967647
NM_002778.4(PSAP):c.12C>A (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.12C>G (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.1302T>C (p.Ala434=) rs2494496476
NM_002778.4(PSAP):c.1309G>A (p.Glu437Lys) rs1842249871
NM_002778.4(PSAP):c.1314A>G (p.Lys438=) rs2494496382
NM_002778.4(PSAP):c.1317C>T (p.Gly439=) rs2494496356
NM_002778.4(PSAP):c.1320C>T (p.Cys440=) rs1842249600
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) rs1419823465
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.132A>G (p.Ala44=) rs2133052871
NM_002778.4(PSAP):c.1336C>G (p.Pro446Ala) rs1183274613
NM_002778.4(PSAP):c.133G>T (p.Val45Leu) rs756076001
NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter) rs761831797
NM_002778.4(PSAP):c.1348C>T (p.Gln450Ter) rs1842248191
NM_002778.4(PSAP):c.1350+12G>A rs2494496099
NM_002778.4(PSAP):c.1350+16G>C rs2133030478
NM_002778.4(PSAP):c.1350+1G>A rs2133030537
NM_002778.4(PSAP):c.1350+7C>T rs1326298452
NM_002778.4(PSAP):c.1350+9C>A rs747430592
NM_002778.4(PSAP):c.1350+9del rs774201963
NM_002778.4(PSAP):c.1351-10T>A rs747414740
NM_002778.4(PSAP):c.1351-10T>G rs747414740
NM_002778.4(PSAP):c.1351-16C>T rs2494494670
NM_002778.4(PSAP):c.1351-2A>G rs2133029725
NM_002778.4(PSAP):c.1351-5T>C rs780691822
NM_002778.4(PSAP):c.1351-9C>A rs921514800
NM_002778.4(PSAP):c.1351-9C>G rs921514800
NM_002778.4(PSAP):c.1351-9_1351-5del rs762799607
NM_002778.4(PSAP):c.1352G>A (p.Cys451Tyr) rs1194848564
NM_002778.4(PSAP):c.1362T>C (p.Phe454=)
NM_002778.4(PSAP):c.136_138inv (p.Lys46Leu)
NM_002778.4(PSAP):c.1375G>A (p.Glu459Lys) rs1447733820
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) rs1208753948
NM_002778.4(PSAP):c.1389C>A (p.Ile463=) rs762811199
NM_002778.4(PSAP):c.1389C>G (p.Ile463Met) rs762811199
NM_002778.4(PSAP):c.1398G>C (p.Leu466=) rs2494494317
NM_002778.4(PSAP):c.1402del (p.Glu468fs) rs2494494292
NM_002778.4(PSAP):c.1404G>C (p.Glu468Asp) rs897233940
NM_002778.4(PSAP):c.1419del (p.Phe474fs) rs1436008939
NM_002778.4(PSAP):c.1422C>G (p.Phe474Leu) rs528318545
NM_002778.4(PSAP):c.1425G>T (p.Val475=) rs1589445950
NM_002778.4(PSAP):c.1431+18G>T rs2494494103
NM_002778.4(PSAP):c.1431+19T>C rs2494494093
NM_002778.4(PSAP):c.1432-16T>G
NM_002778.4(PSAP):c.1432-20T>C rs1842229712
NM_002778.4(PSAP):c.1432-6A>G rs2494492894
NM_002778.4(PSAP):c.145C>T (p.Leu49=) rs1842580828
NM_002778.4(PSAP):c.1467G>A (p.Leu489=)
NM_002778.4(PSAP):c.1470G>A (p.Leu490=)
NM_002778.4(PSAP):c.1472G>A (p.Gly491Glu) rs2133028767
NM_002778.4(PSAP):c.1479G>A (p.Glu493=) rs1589445697
NM_002778.4(PSAP):c.1487T>C (p.Ile496Thr) rs2494492584
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter) rs2494541533
NM_002778.4(PSAP):c.1497A>G (p.Pro499=) rs1468772996
NM_002778.4(PSAP):c.1500C>T (p.Ser500=) rs2133028698
NM_002778.4(PSAP):c.1503C>T (p.Tyr501=)
NM_002778.4(PSAP):c.1509C>T (p.Cys503=) rs2494492487
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) rs2133028668
NM_002778.4(PSAP):c.1524A>G (p.Thr508=) rs2494492407
NM_002778.4(PSAP):c.1530C>G (p.Ala510=) rs2494492381
NM_002778.4(PSAP):c.1539+14_1539+20del
NM_002778.4(PSAP):c.1539+17_1539+20del rs746019728
NM_002778.4(PSAP):c.1539+18C>A rs2494492271
NM_002778.4(PSAP):c.1539+20G>T rs372772165
NM_002778.4(PSAP):c.153C>G (p.Thr51=) rs11555016
NM_002778.4(PSAP):c.1540-10C>G rs531023925
NM_002778.4(PSAP):c.1540-12C>G rs1842193352
NM_002778.4(PSAP):c.1540-13TC[2] rs770871198
NM_002778.4(PSAP):c.1540-19G>C rs2494488612
NM_002778.4(PSAP):c.1540-19G>T rs2494488612
NM_002778.4(PSAP):c.1540-20A>G rs770849054
NM_002778.4(PSAP):c.1540-20A>T rs770849054
NM_002778.4(PSAP):c.1540-4C>T rs1842192905
NM_002778.4(PSAP):c.1540-8C>T rs997903652
NM_002778.4(PSAP):c.1540-8_1540-7del rs2494488552
NM_002778.4(PSAP):c.1558C>T (p.Arg520Cys) rs1353445374
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) rs2133025799
NM_002778.4(PSAP):c.1562A>G (p.His521Arg) rs1280978481
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter) rs2494541474
NM_002778.4(PSAP):c.15C>A (p.Phe5Leu) rs2133075325
NM_002778.4(PSAP):c.168A>C (p.Pro56=) rs1842580175
NM_002778.4(PSAP):c.174+12T>C
NM_002778.4(PSAP):c.174+15C>T rs2494541350
NM_002778.4(PSAP):c.174+17T>G rs1589454166
NM_002778.4(PSAP):c.174+20A>G rs772359680
NM_002778.4(PSAP):c.175-10T>C rs2494535576
NM_002778.4(PSAP):c.175-11C>A rs746103383
NM_002778.4(PSAP):c.175-16G>T rs772354701
NM_002778.4(PSAP):c.175-6T>C rs779164168
NM_002778.4(PSAP):c.175-7C>T rs2133049297
NM_002778.4(PSAP):c.175-8T>C rs2494535570
NM_002778.4(PSAP):c.190G>A (p.Asp64Asn) rs1842528237
NM_002778.4(PSAP):c.192C>T (p.Asp64=) rs2133049237
NM_002778.4(PSAP):c.194T>C (p.Ile65Thr) rs372262659
NM_002778.4(PSAP):c.194T>G (p.Ile65Arg) rs372262659
NM_002778.4(PSAP):c.19C>A (p.Leu7Met) rs768373930
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) rs121918106
NM_002778.4(PSAP):c.201A>G (p.Lys67=) rs2133049199
NM_002778.4(PSAP):c.202del (p.Asp68fs) rs2494535401
NM_002778.4(PSAP):c.207T>C (p.Val69=) rs1842527028
NM_002778.4(PSAP):c.207_209del (p.Val70del) rs757687480
NM_002778.4(PSAP):c.210C>T (p.Val70=) rs2494535326
NM_002778.4(PSAP):c.226A>G (p.Met76Val) rs2133049114
NM_002778.4(PSAP):c.227T>C (p.Met76Thr) rs377024801
NM_002778.4(PSAP):c.231G>A (p.Leu77=) rs2494535237
NM_002778.4(PSAP):c.249+10G>T rs1454831195
NM_002778.4(PSAP):c.249+11G>C rs2133049059
NM_002778.4(PSAP):c.249+13G>C rs1842525306
NM_002778.4(PSAP):c.249+19G>A rs2494535122
NM_002778.4(PSAP):c.249+20G>A rs2133049043
NM_002778.4(PSAP):c.249+7G>A rs1383864740
NM_002778.4(PSAP):c.249+8G>A rs2133049074
NM_002778.4(PSAP):c.250-10C>T rs2494533595
NM_002778.4(PSAP):c.250-12_250-11del rs1264854232
NM_002778.4(PSAP):c.250-15G>A rs1842509864
NM_002778.4(PSAP):c.250-16T>C rs2494533618
NM_002778.4(PSAP):c.250-17C>G rs1842509931
NM_002778.4(PSAP):c.250-1G>C rs2494533554
NM_002778.4(PSAP):c.250-4G>T rs568499058
NM_002778.4(PSAP):c.250-7C>T rs2494533580
NM_002778.4(PSAP):c.250-9C>G rs2133048261
NM_002778.4(PSAP):c.250-9C>T rs2133048261
NM_002778.4(PSAP):c.251A>T (p.Glu84Val) rs1842509246
NM_002778.4(PSAP):c.27C>T (p.Ser9=) rs2133075290
NM_002778.4(PSAP):c.282T>C (p.Cys94=) rs2494533378
NM_002778.4(PSAP):c.291T>C (p.Leu97=) rs375977785
NM_002778.4(PSAP):c.299_315del (p.Pro100fs) rs2133048124
NM_002778.4(PSAP):c.2T>G (p.Met1Arg) rs767713908
NM_002778.4(PSAP):c.300G>A (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.300G>T (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.303C>T (p.Asn101=) rs2133048147
NM_002778.4(PSAP):c.315A>G (p.Ser105=) rs2133048117
NM_002778.4(PSAP):c.319A>C (p.Lys107Gln) rs752007600
NM_002778.4(PSAP):c.325A>G (p.Ile109Val) rs750768608
NM_002778.4(PSAP):c.326T>C (p.Ile109Thr) rs2494533117
NM_002778.4(PSAP):c.330G>A (p.Val110=) rs2494533081
NM_002778.4(PSAP):c.332A>C (p.Asp111Ala) rs1342627732
NM_002778.4(PSAP):c.332A>G (p.Asp111Gly) rs1342627732
NM_002778.4(PSAP):c.333C>T (p.Asp111=) rs1290504062
NM_002778.4(PSAP):c.346G>C (p.Val116Leu) rs2133048020
NM_002778.4(PSAP):c.351C>T (p.Ile117=) rs1411937746
NM_002778.4(PSAP):c.352C>T (p.Leu118=) rs1842504396
NM_002778.4(PSAP):c.375+13G>A rs2133047916
NM_002778.4(PSAP):c.375+16T>C rs2494532744
NM_002778.4(PSAP):c.375+18G>A rs2494532736
NM_002778.4(PSAP):c.375+1G>T rs2133047947
NM_002778.4(PSAP):c.375+20C>G rs1219774815
NM_002778.4(PSAP):c.375+2T>G rs2494532805
NM_002778.4(PSAP):c.375+9T>C rs2494532771
NM_002778.4(PSAP):c.376-10A>G rs2494526825
NM_002778.4(PSAP):c.376-15_376-11dup
NM_002778.4(PSAP):c.376-4C>A rs750779234
NM_002778.4(PSAP):c.376-5A>T rs2133045115
NM_002778.4(PSAP):c.376-8C>T rs2133045123
NM_002778.4(PSAP):c.381T>C (p.Arg127=) rs762133120
NM_002778.4(PSAP):c.390G>A (p.Glu130=) rs2494526684
NM_002778.4(PSAP):c.393G>A (p.Val131=) rs889083956
NM_002778.4(PSAP):c.398C>G (p.Ser133Cys) rs754052791
NM_002778.4(PSAP):c.399T>C (p.Ser133=) rs2133045048
NM_002778.4(PSAP):c.39G>T (p.Ala13=) rs369102577
NM_002778.4(PSAP):c.40+10G>A
NM_002778.4(PSAP):c.40+16C>G rs2494583085
NM_002778.4(PSAP):c.40+19A>T rs771708911
NM_002778.4(PSAP):c.40+8C>T rs964523271
NM_002778.4(PSAP):c.40+9T>A rs2133075223
NM_002778.4(PSAP):c.402T>A (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.402T>C (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.409C>G (p.Leu137Val) rs377027316
NM_002778.4(PSAP):c.409C>T (p.Leu137Phe)
NM_002778.4(PSAP):c.41-17G>A rs181164406
NM_002778.4(PSAP):c.41-17G>C rs181164406
NM_002778.4(PSAP):c.41-17G>T rs181164406
NM_002778.4(PSAP):c.41-17_42del rs2133053107
NM_002778.4(PSAP):c.41-18C>G rs970529644
NM_002778.4(PSAP):c.41-18C>T rs970529644
NM_002778.4(PSAP):c.41-18del rs2494542106
NM_002778.4(PSAP):c.41-19A>G rs2494542110
NM_002778.4(PSAP):c.41-19dup rs2494542118
NM_002778.4(PSAP):c.41-22_41-20del rs2494542127
NM_002778.4(PSAP):c.41-7A>G rs2133053123
NM_002778.4(PSAP):c.423C>A (p.Leu141=) rs780891597
NM_002778.4(PSAP):c.429G>A (p.Lys143=) rs573587297
NM_002778.4(PSAP):c.42T>C (p.Ala14=) rs2494542027
NM_002778.4(PSAP):c.435A>G (p.Leu145=) rs1842457377
NM_002778.4(PSAP):c.441G>A (p.Glu147=) rs2494526299
NM_002778.4(PSAP):c.450C>A (p.His150Gln) rs757752213
NM_002778.4(PSAP):c.450C>T (p.His150=) rs757752213
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter) rs2494526165
NM_002778.4(PSAP):c.460C>T (p.Leu154=) rs1300106682
NM_002778.4(PSAP):c.462G>A (p.Leu154=) rs2133044866
NM_002778.4(PSAP):c.474G>A (p.Lys158=)
NM_002778.4(PSAP):c.475A>T (p.Ile159Phe) rs2494526015
NM_002778.4(PSAP):c.477C>T (p.Ile159=) rs1842455698
NM_002778.4(PSAP):c.48C>A (p.Ala16=) rs199808371
NM_002778.4(PSAP):c.498G>A (p.Glu166=) rs2133044816
NM_002778.4(PSAP):c.504G>A (p.Val168=) rs2494525856
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.510C>G (p.Pro170=) rs2494525806
NM_002778.4(PSAP):c.522C>T (p.Asn174=) rs1326511224
NM_002778.4(PSAP):c.527dup (p.Leu177fs) rs2494525720
NM_002778.4(PSAP):c.52C>G (p.Pro18Ala) rs920658754
NM_002778.4(PSAP):c.537C>G (p.Leu179=) rs2133044748
NM_002778.4(PSAP):c.54G>C (p.Pro18=) rs778317867
NM_002778.4(PSAP):c.552C>A (p.Gly184=) rs1313057234
NM_002778.4(PSAP):c.553C>T (p.Pro185Ser) rs2133044718
NM_002778.4(PSAP):c.555_556dup (p.Arg186fs) rs2494525612
NM_002778.4(PSAP):c.558C>A (p.Arg186=)
NM_002778.4(PSAP):c.558C>T (p.Arg186=) rs1842452697
NM_002778.4(PSAP):c.561C>T (p.Ser187=) rs2133044694
NM_002778.4(PSAP):c.567C>G (p.Pro189=) rs760310283
NM_002778.4(PSAP):c.567C>T (p.Pro189=) rs760310283
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002778.4(PSAP):c.573A>G (p.Pro191=) rs2133044655
NM_002778.4(PSAP):c.576+11G>C rs371681572
NM_002778.4(PSAP):c.576+13G>T rs2133044620
NM_002778.4(PSAP):c.576+18C>T rs2494525407
NM_002778.4(PSAP):c.576+3A>G rs2133044640
NM_002778.4(PSAP):c.576+7C>G rs755154023
NM_002778.4(PSAP):c.576+9_576+20del rs2133044608
NM_002778.4(PSAP):c.577-12C>T rs2494523493
NM_002778.4(PSAP):c.577-1G>T rs1589451049
NM_002778.4(PSAP):c.577-2A>G rs1589451050
NM_002778.4(PSAP):c.577-3T>C rs2133043677
NM_002778.4(PSAP):c.577-7T>G rs2494523476
NM_002778.4(PSAP):c.57C>A (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.57C>T (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.586G>A (p.Asp196Asn) rs374083914
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr) rs2494523338
NM_002778.4(PSAP):c.594C>T (p.Cys198=) rs1383574711
NM_002778.4(PSAP):c.597G>A (p.Gln199=) rs2494523322
NM_002778.4(PSAP):c.5A>T (p.Tyr2Phe) rs759590269
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter) rs1554880848
NM_002778.4(PSAP):c.608A>G (p.Gln203Arg) rs1842430591
NM_002778.4(PSAP):c.610A>T (p.Met204Leu) rs1842430461
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) rs1589451004
NM_002778.4(PSAP):c.615G>A (p.Val205=)
NM_002778.4(PSAP):c.618T>A (p.Thr206=) rs2133043550
NM_002778.4(PSAP):c.633T>C (p.Ala211=) rs2133043525
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.651C>G (p.Thr217=) rs371714848
NM_002778.4(PSAP):c.661G>T (p.Ala221Ser) rs747136921
NM_002778.4(PSAP):c.663C>G (p.Ala221=) rs780126150
NM_002778.4(PSAP):c.666G>A (p.Leu222=) rs2494522894
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter) rs2133043442
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly) rs2494522736
NM_002778.4(PSAP):c.695G>T (p.Arg232Leu) rs147265566
NM_002778.4(PSAP):c.697C>G (p.Leu233Val) rs146934980
NM_002778.4(PSAP):c.697C>T (p.Leu233=) rs146934980
NM_002778.4(PSAP):c.699G>A (p.Leu233=) rs2494522672
NM_002778.4(PSAP):c.69A>G (p.Lys23=) rs1220382181
NM_002778.4(PSAP):c.712G>A (p.Ala238Thr) rs2133043341
NM_002778.4(PSAP):c.714C>T (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.715G>A (p.Asp239Asn) rs772254365
NM_002778.4(PSAP):c.720+15C>T rs778910432
NM_002778.4(PSAP):c.720+16T>C rs2494522405
NM_002778.4(PSAP):c.720+2_720+5del rs2133043288
NM_002778.4(PSAP):c.720+5G>A rs1313793654
NM_002778.4(PSAP):c.720+7C>G rs754131929
NM_002778.4(PSAP):c.720+7C>T rs754131929
NM_002778.4(PSAP):c.721-12C>G rs1376506211
NM_002778.4(PSAP):c.721-1G>A rs1842392331
NM_002778.4(PSAP):c.721-1G>C rs1842392331
NM_002778.4(PSAP):c.721-20del
NM_002778.4(PSAP):c.721-5C>T rs2494516922
NM_002778.4(PSAP):c.721-5_721-3del rs1411882145
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly) rs1842392268
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter) rs2494516881
NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer) rs2494516860
NM_002778.4(PSAP):c.729C>T (p.Asn243=) rs2494516836
NM_002778.4(PSAP):c.741G>A (p.Gln247=) rs202069470
NM_002778.4(PSAP):c.743A>G (p.Tyr248Cys) rs2133040490
NM_002778.4(PSAP):c.755C>G (p.Ala252Gly) rs2494516708
NM_002778.4(PSAP):c.75C>T (p.Cys25=) rs928117739
NM_002778.4(PSAP):c.763A>T (p.Met255Leu) rs773349568
NM_002778.4(PSAP):c.777+10A>G rs770857044
NM_002778.4(PSAP):c.777+1915C>A rs759960679
NM_002778.4(PSAP):c.777+1G>A rs112041816
NM_002778.4(PSAP):c.777+1G>T rs112041816
NM_002778.4(PSAP):c.777+9C>T rs774490507
NM_002778.4(PSAP):c.778-10C>G rs1842311005
NM_002778.4(PSAP):c.778-10C>T
NM_002778.4(PSAP):c.778-16T>C
NM_002778.4(PSAP):c.778-19T>G rs2494506323
NM_002778.4(PSAP):c.778-2A>G rs111610925
NM_002778.4(PSAP):c.778-6C>T rs2133035424
NM_002778.4(PSAP):c.778-9T>C rs1842310965
NM_002778.4(PSAP):c.779A>G (p.Gln260Arg) rs1842310709
NM_002778.4(PSAP):c.785_788del (p.Lys262fs) rs2494506149
NM_002778.4(PSAP):c.786G>A (p.Lys262=) rs2133035392
NM_002778.4(PSAP):c.789G>A (p.Glu263=) rs762026767
NM_002778.4(PSAP):c.789G>T (p.Glu263Asp) rs762026767
NM_002778.4(PSAP):c.792C>T (p.Ile264=) rs2494506107
NM_002778.4(PSAP):c.794G>A (p.Cys265Tyr) rs1842310226
NM_002778.4(PSAP):c.7G>A (p.Ala3Thr) rs981794672
NM_002778.4(PSAP):c.816T>C (p.Asp272=)
NM_002778.4(PSAP):c.816_823del (p.Asp272fs) rs1244889985
NM_002778.4(PSAP):c.822G>A (p.Val274=) rs149202005
NM_002778.4(PSAP):c.825A>G (p.Lys275=) rs2494505913
NM_002778.4(PSAP):c.828G>A (p.Glu276=) rs2133035300
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) rs1589448124
NM_002778.4(PSAP):c.835A>G (p.Met279Val) rs2133035273
NM_002778.4(PSAP):c.83del (p.Gly28fs) rs2133053013
NM_002778.4(PSAP):c.844C>T (p.Leu282=) rs1589448110
NM_002778.4(PSAP):c.84C>T (p.Gly28=) rs2133053002
NM_002778.4(PSAP):c.852C>A (p.Pro284=) rs370435627
NM_002778.4(PSAP):c.867C>G (p.Ser289=) rs2133035197
NM_002778.4(PSAP):c.86C>G (p.Ser29Trp) rs758565002
NM_002778.4(PSAP):c.86C>T (p.Ser29Leu) rs758565002
NM_002778.4(PSAP):c.87G>C (p.Ser29=) rs764061004
NM_002778.4(PSAP):c.886C>T (p.Leu296=) rs2133035173
NM_002778.4(PSAP):c.888G>A (p.Leu296=) rs750789641
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter) rs765607332
NM_002778.4(PSAP):c.89C>T (p.Ala30Val) rs1012525890
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358
NM_002778.4(PSAP):c.909+12C>G rs1842305841
NM_002778.4(PSAP):c.909+13A>C rs2494505287
NM_002778.4(PSAP):c.909+17T>A rs1407131075
NM_002778.4(PSAP):c.909+17T>C rs1407131075
NM_002778.4(PSAP):c.909+7G>A rs1395757243
NM_002778.4(PSAP):c.909+8dup rs2494505328
NM_002778.4(PSAP):c.90A>C (p.Ala30=) rs2133052977
NM_002778.4(PSAP):c.910-11T>G
NM_002778.4(PSAP):c.910-13A>C rs370155869
NM_002778.4(PSAP):c.910-13A>T rs370155869
NM_002778.4(PSAP):c.910-16_910-14del rs757790178
NM_002778.4(PSAP):c.910-18C>T rs1482562282
NM_002778.4(PSAP):c.910-18_910-15del rs2494500847
NM_002778.4(PSAP):c.910-8T>G rs2133032996
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.4(PSAP):c.912G>A (p.Lys304=) rs1415619569
NM_002778.4(PSAP):c.932C>G (p.Ser311Cys) rs762828056
NM_002778.4(PSAP):c.935A>G (p.Asp312Gly) rs1221149461
NM_002778.4(PSAP):c.939T>C (p.Val313=) rs773021112
NM_002778.4(PSAP):c.951G>A (p.Val317=) rs2133032801
NM_002778.4(PSAP):c.961C>T (p.Leu321=) rs2494500349
NM_002778.4(PSAP):c.963G>A (p.Leu321=) rs2133032778
NM_002778.4(PSAP):c.990C>A (p.Asp330Glu)
NM_002778.4(PSAP):c.990C>T (p.Asp330=) rs746313696
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del) rs751974432
NM_002778.4(PSAP):c.99C>T (p.Cys33=) rs2494541788
NM_002778.4(PSAP):c.9C>G (p.Ala3=) rs769671646

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.