ClinVar Miner

List of variants studied for Sphingolipid activator protein 1 deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 726
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
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.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 0.00269
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
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.721-13T>C rs370875535 0.00031
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
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.94T>G (p.Trp32Gly) rs200008050 0.00022
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00021
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 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.1381G>A (p.Val461Met) rs138716613 0.00014
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) rs759402008 0.00014
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_002778.4(PSAP):c.577-14T>G rs756487651 0.00013
NM_002778.4(PSAP):c.1006-12C>T rs367693244 0.00011
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.1193-18C>T rs200988983 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.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) rs150521779 0.00009
NM_002778.4(PSAP):c.1106T>C (p.Leu369Pro) rs772105675 0.00008
NM_002778.4(PSAP):c.1350+9C>T rs747430592 0.00008
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 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.379C>T (p.Arg127Cys) rs148519599 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.1000A>T (p.Thr334Ser) rs749663645 0.00006
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 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.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 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.113C>T (p.Thr38Met) rs145181011 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.41-17_41-9dup rs768077397 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.1280G>A (p.Ser427Asn) rs748633704 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 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.167C>G (p.Pro56Arg) rs571773332 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.414C>T (p.Cys138=) rs769564352 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.6C>T (p.Tyr2=) rs774482765 0.00004
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.1175G>A (p.Arg392Gln) rs754208657 0.00003
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro) rs958206407 0.00003
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) rs1295313912 0.00003
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.1350+15G>A rs574811418 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.174+10G>A rs375887783 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00003
NM_002778.4(PSAP):c.621C>T (p.Asp207=) rs140702696 0.00003
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) rs773913014 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.830T>G (p.Met277Arg) rs772914489 0.00003
NM_002778.4(PSAP):c.894G>A (p.Leu298=) rs150048951 0.00003
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) rs759154767 0.00002
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) rs113679008 0.00002
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) rs747117207 0.00002
NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr) rs775563822 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.1137G>C (p.Glu379Asp) rs754680319 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 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.126C>T (p.Cys42=) rs372943091 0.00002
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) rs554592821 0.00002
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) rs761967647 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.337T>G (p.Tyr113Asp) rs762050153 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.48C>T (p.Ala16=) rs199808371 0.00002
NM_002778.4(PSAP):c.507C>T (p.Ala169=) rs765156362 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.777+1915C>T rs759960679 0.00002
NM_002778.4(PSAP):c.778-8C>G rs750717205 0.00002
NM_002778.4(PSAP):c.849C>A (p.Val283=) rs747705833 0.00002
NM_002778.4(PSAP):c.879C>T (p.Ile293=) rs1199611460 0.00002
NM_002778.4(PSAP):c.910-13A>G rs370155869 0.00002
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) rs1431665170 0.00002
NM_002778.4(PSAP):c.1006-20G>A rs751608981 0.00001
NM_002778.4(PSAP):c.1006-7G>A rs372177796 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.1062G>A (p.Ser354=) rs1486812963 0.00001
NM_002778.4(PSAP):c.1063G>C (p.Glu355Gln) rs754626939 0.00001
NM_002778.4(PSAP):c.1073A>T (p.Gln358Leu) rs773659954 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.1128C>T (p.Val376=) rs1287661070 0.00001
NM_002778.4(PSAP):c.1130G>A (p.Ser377Asn) rs1234853998 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 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.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.1219G>A (p.Gly407Ser) rs753089339 0.00001
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) rs147030327 0.00001
NM_002778.4(PSAP):c.125G>A (p.Cys42Tyr) rs1171277739 0.00001
NM_002778.4(PSAP):c.1274A>G (p.Lys425Arg) rs748822422 0.00001
NM_002778.4(PSAP):c.1282A>G (p.Thr428Ala) rs200379457 0.00001
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) rs558427025 0.00001
NM_002778.4(PSAP):c.12C>T (p.Leu4=) rs1457254996 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.1350+10G>A rs542537706 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.1395C>A (p.Ile465=) rs1216069938 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.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.1540-10C>T rs531023925 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.161A>G (p.Asn54Ser) rs539091862 0.00001
NM_002778.4(PSAP):c.166C>T (p.Pro56Ser) rs754702748 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.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.250-4G>A rs568499058 0.00001
NM_002778.4(PSAP):c.268T>C (p.Leu90=) rs954076104 0.00001
NM_002778.4(PSAP):c.294G>A (p.Pro98=) rs752253216 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.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.428A>G (p.Lys143Arg) rs768267507 0.00001
NM_002778.4(PSAP):c.438A>G (p.Ala146=) rs758862885 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.591T>G (p.Val197=) rs1387039570 0.00001
NM_002778.4(PSAP):c.60T>C (p.Leu20=) rs188252882 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.717C>T (p.Asp239=) rs879066464 0.00001
NM_002778.4(PSAP):c.721-9T>C rs1175109637 0.00001
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) rs146732171 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.777+11C>T rs749373571 0.00001
NM_002778.4(PSAP):c.777+12G>A rs533983482 0.00001
NM_002778.4(PSAP):c.777+18C>T rs779957575 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.856A>G (p.Lys286Glu) rs1376075974 0.00001
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) rs758866050 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.912G>A (p.Lys304=) rs1415619569 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.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.(?_73587761)_(73588844_?)del
NC_000010.10:g.(?_73610929)_(73610988_?)del
NC_000010.11:g.(?_71828004)_(71834515_?)dup
NM_002778.4(PSAP):c.1005+12T>C
NM_002778.4(PSAP):c.1005+13C>G
NM_002778.4(PSAP):c.1005+15T>C
NM_002778.4(PSAP):c.1005+19A>G
NM_002778.4(PSAP):c.1005+1G>A rs113365744
NM_002778.4(PSAP):c.1005+1G>C
NM_002778.4(PSAP):c.1006-11G>C
NM_002778.4(PSAP):c.1006-11G>T
NM_002778.4(PSAP):c.1006-11GT[2] rs1238736249
NM_002778.4(PSAP):c.1006-14C>T
NM_002778.4(PSAP):c.1006-16C>G
NM_002778.4(PSAP):c.1006-19A>T
NM_002778.4(PSAP):c.1006-2A>G rs1589446748
NM_002778.4(PSAP):c.1006-9G>A
NM_002778.4(PSAP):c.100del (p.Gln34fs)
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) rs146778046
NM_002778.4(PSAP):c.1033A>G (p.Met345Val)
NM_002778.4(PSAP):c.1035G>A (p.Met345Ile)
NM_002778.4(PSAP):c.1035G>T (p.Met345Ile)
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=)
NM_002778.4(PSAP):c.1050G>T (p.Pro350=)
NM_002778.4(PSAP):c.1050dup (p.Lys351fs)
NM_002778.4(PSAP):c.1053G>A (p.Lys351=)
NM_002778.4(PSAP):c.1057C>G (p.Leu353Val)
NM_002778.4(PSAP):c.1059G>C (p.Leu353=)
NM_002778.4(PSAP):c.1064A>C (p.Glu355Ala)
NM_002778.4(PSAP):c.1065A>G (p.Glu355=)
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter)
NM_002778.4(PSAP):c.1067A>C (p.Glu356Ala) rs763529106
NM_002778.4(PSAP):c.1067A>G (p.Glu356Gly)
NM_002778.4(PSAP):c.1074G>C (p.Gln358His) rs1842259918
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) rs2133031778
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)
NM_002778.4(PSAP):c.1095C>T (p.Gly365=)
NM_002778.4(PSAP):c.10C>T (p.Leu4Phe) rs574280149
NM_002778.4(PSAP):c.1104C>T (p.Ile368=)
NM_002778.4(PSAP):c.1107G>C (p.Leu369=)
NM_002778.4(PSAP):c.1110C>T (p.Ser370=)
NM_002778.4(PSAP):c.1113C>T (p.Ile371=)
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) rs1204739286
NM_002778.4(PSAP):c.1119G>A (p.Leu373=)
NM_002778.4(PSAP):c.1119G>T (p.Leu373=)
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.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.1149C>T (p.Ser383=)
NM_002778.4(PSAP):c.114G>A (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.114G>C (p.Thr38=)
NM_002778.4(PSAP):c.1155G>A (p.Leu385=)
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=)
NM_002778.4(PSAP):c.1169G>T (p.Gly390Val)
NM_002778.4(PSAP):c.1174C>T (p.Arg392Trp)
NM_002778.4(PSAP):c.1185A>C (p.Ala395=)
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) rs759580183
NM_002778.4(PSAP):c.1191C>T (p.Thr397=)
NM_002778.4(PSAP):c.1192+11G>A
NM_002778.4(PSAP):c.1192+12G>A
NM_002778.4(PSAP):c.1192+12G>T
NM_002778.4(PSAP):c.1192+13T>A
NM_002778.4(PSAP):c.1192+14G>T
NM_002778.4(PSAP):c.1192+17G>A
NM_002778.4(PSAP):c.1192+20C>T
NM_002778.4(PSAP):c.1192+6C>T
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.1193-15T>G
NM_002778.4(PSAP):c.1193-17G>A
NM_002778.4(PSAP):c.1193-17G>C
NM_002778.4(PSAP):c.1193-18C>G
NM_002778.4(PSAP):c.1193-1G>C
NM_002778.4(PSAP):c.1193-9C>T
NM_002778.4(PSAP):c.1195C>T (p.His399Tyr)
NM_002778.4(PSAP):c.1198G>A (p.Val400Met)
NM_002778.4(PSAP):c.119C>A (p.Ser40Tyr)
NM_002778.4(PSAP):c.1201A>C (p.Thr401Pro)
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.121G>A (p.Asp41Asn)
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.1236C>T (p.Cys412=)
NM_002778.4(PSAP):c.1243C>G (p.Leu415Val) rs2133030948
NM_002778.4(PSAP):c.1245G>T (p.Leu415=)
NM_002778.4(PSAP):c.1260T>C (p.Asp420=)
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
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)
NM_002778.4(PSAP):c.1267C>T (p.Leu423=)
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) rs751839091
NM_002778.4(PSAP):c.1287G>C (p.Lys429Asn)
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=)
NM_002778.4(PSAP):c.12C>G (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.1302T>C (p.Ala434=)
NM_002778.4(PSAP):c.1308T>G (p.Leu436=)
NM_002778.4(PSAP):c.1309G>A (p.Glu437Lys) rs1842249871
NM_002778.4(PSAP):c.1314A>G (p.Lys438=)
NM_002778.4(PSAP):c.1317C>T (p.Gly439=)
NM_002778.4(PSAP):c.1320C>T (p.Cys440=)
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) rs1419823465
NM_002778.4(PSAP):c.1328T>C (p.Leu443Pro)
NM_002778.4(PSAP):c.132A>G (p.Ala44=) rs2133052871
NM_002778.4(PSAP):c.1336C>G (p.Pro446Ala)
NM_002778.4(PSAP):c.133G>T (p.Val45Leu)
NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter)
NM_002778.4(PSAP):c.1342C>G (p.Gln448Glu)
NM_002778.4(PSAP):c.1348C>T (p.Gln450Ter) rs1842248191
NM_002778.4(PSAP):c.1350+12G>A
NM_002778.4(PSAP):c.1350+16G>C rs2133030478
NM_002778.4(PSAP):c.1350+17G>C
NM_002778.4(PSAP):c.1350+1G>A rs2133030537
NM_002778.4(PSAP):c.1350+20G>C
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.1351-15C>T
NM_002778.4(PSAP):c.1351-16C>T
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
NM_002778.4(PSAP):c.1351-9C>G
NM_002778.4(PSAP):c.1351-9_1351-5del
NM_002778.4(PSAP):c.1352G>A (p.Cys451Tyr) rs1194848564
NM_002778.4(PSAP):c.136_138inv (p.Lys46Leu)
NM_002778.4(PSAP):c.1375G>A (p.Glu459Lys)
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) rs1208753948
NM_002778.4(PSAP):c.1389C>A (p.Ile463=)
NM_002778.4(PSAP):c.1389C>G (p.Ile463Met) rs762811199
NM_002778.4(PSAP):c.1398G>C (p.Leu466=)
NM_002778.4(PSAP):c.139C>T (p.His47Tyr)
NM_002778.4(PSAP):c.1402del (p.Glu468fs)
NM_002778.4(PSAP):c.1404G>C (p.Glu468Asp)
NM_002778.4(PSAP):c.1415C>T (p.Pro472Leu)
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) rs1842236573
NM_002778.4(PSAP):c.1419del (p.Phe474fs)
NM_002778.4(PSAP):c.1422C>G (p.Phe474Leu)
NM_002778.4(PSAP):c.1425G>T (p.Val475=) rs1589445950
NM_002778.4(PSAP):c.1431+18G>T
NM_002778.4(PSAP):c.1431+19T>C
NM_002778.4(PSAP):c.1432-19T>C
NM_002778.4(PSAP):c.1432-20T>C
NM_002778.4(PSAP):c.1432-6A>G
NM_002778.4(PSAP):c.145C>T (p.Leu49=)
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.147G>A (p.Leu49=) rs112119208
NM_002778.4(PSAP):c.1487T>C (p.Ile496Thr)
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)
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.1509C>T (p.Cys503=)
NM_002778.4(PSAP):c.1514A>G (p.Asn505Ser)
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) rs2133028668
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)
NM_002778.4(PSAP):c.1524A>G (p.Thr508=)
NM_002778.4(PSAP):c.1530C>G (p.Ala510=)
NM_002778.4(PSAP):c.1539+17_1539+20del
NM_002778.4(PSAP):c.1539+18C>A
NM_002778.4(PSAP):c.1539+20G>T
NM_002778.4(PSAP):c.1539+6T>G
NM_002778.4(PSAP):c.153C>G (p.Thr51=)
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
NM_002778.4(PSAP):c.1540-19G>T
NM_002778.4(PSAP):c.1540-20A>G
NM_002778.4(PSAP):c.1540-20A>T
NM_002778.4(PSAP):c.1540-4C>T
NM_002778.4(PSAP):c.1540-8C>T
NM_002778.4(PSAP):c.1540-8_1540-7del
NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys)
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) rs780990521
NM_002778.4(PSAP):c.154G>A (p.Val52Ile)
NM_002778.4(PSAP):c.1558C>T (p.Arg520Cys)
NM_002778.4(PSAP):c.1559G>A (p.Arg520His)
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) rs2133025799
NM_002778.4(PSAP):c.1562A>G (p.His521Arg)
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter)
NM_002778.4(PSAP):c.15C>A (p.Phe5Leu) rs2133075325
NM_002778.4(PSAP):c.168A>C (p.Pro56=)
NM_002778.4(PSAP):c.174+15C>T
NM_002778.4(PSAP):c.174+16C>T
NM_002778.4(PSAP):c.174+17T>C
NM_002778.4(PSAP):c.174+17T>G
NM_002778.4(PSAP):c.174+20A>G
NM_002778.4(PSAP):c.175-10T>C
NM_002778.4(PSAP):c.175-11C>A
NM_002778.4(PSAP):c.175-16G>A
NM_002778.4(PSAP):c.175-16G>T
NM_002778.4(PSAP):c.175-17C>T
NM_002778.4(PSAP):c.175-6T>C
NM_002778.4(PSAP):c.175-7C>T rs2133049297
NM_002778.4(PSAP):c.175-8T>C
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)
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)
NM_002778.4(PSAP):c.205G>A (p.Val69Ile)
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=)
NM_002778.4(PSAP):c.226A>G (p.Met76Val) rs2133049114
NM_002778.4(PSAP):c.227T>C (p.Met76Thr)
NM_002778.4(PSAP):c.231G>A (p.Leu77=)
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
NM_002778.4(PSAP):c.249+19G>A
NM_002778.4(PSAP):c.249+20G>A rs2133049043
NM_002778.4(PSAP):c.249+7G>A
NM_002778.4(PSAP):c.249+8G>A rs2133049074
NM_002778.4(PSAP):c.250-10C>T
NM_002778.4(PSAP):c.250-12_250-11del
NM_002778.4(PSAP):c.250-15G>A
NM_002778.4(PSAP):c.250-16T>C
NM_002778.4(PSAP):c.250-17C>G
NM_002778.4(PSAP):c.250-1G>C
NM_002778.4(PSAP):c.250-4G>T
NM_002778.4(PSAP):c.250-7C>T
NM_002778.4(PSAP):c.250-9C>G rs2133048261
NM_002778.4(PSAP):c.250-9C>T
NM_002778.4(PSAP):c.251A>T (p.Glu84Val)
NM_002778.4(PSAP):c.267C>T (p.Tyr89=)
NM_002778.4(PSAP):c.270G>A (p.Leu90=)
NM_002778.4(PSAP):c.27C>T (p.Ser9=) rs2133075290
NM_002778.4(PSAP):c.282T>C (p.Cys94=)
NM_002778.4(PSAP):c.291T>A (p.Leu97=)
NM_002778.4(PSAP):c.291T>C (p.Leu97=)
NM_002778.4(PSAP):c.293C>T (p.Pro98Leu)
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)
NM_002778.4(PSAP):c.325A>T (p.Ile109Leu)
NM_002778.4(PSAP):c.326T>C (p.Ile109Thr)
NM_002778.4(PSAP):c.330G>A (p.Val110=)
NM_002778.4(PSAP):c.332A>C (p.Asp111Ala)
NM_002778.4(PSAP):c.332A>G (p.Asp111Gly) rs1342627732
NM_002778.4(PSAP):c.333C>T (p.Asp111=)
NM_002778.4(PSAP):c.342C>G (p.Leu114=)
NM_002778.4(PSAP):c.346G>C (p.Val116Leu) rs2133048020
NM_002778.4(PSAP):c.348C>G (p.Val116=)
NM_002778.4(PSAP):c.351C>T (p.Ile117=) rs1411937746
NM_002778.4(PSAP):c.352C>T (p.Leu118=)
NM_002778.4(PSAP):c.375+13G>A rs2133047916
NM_002778.4(PSAP):c.375+16T>C
NM_002778.4(PSAP):c.375+18G>A
NM_002778.4(PSAP):c.375+1G>T rs2133047947
NM_002778.4(PSAP):c.375+20C>G
NM_002778.4(PSAP):c.375+2T>G
NM_002778.4(PSAP):c.375+9T>C
NM_002778.4(PSAP):c.376-10A>G
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=)
NM_002778.4(PSAP):c.393G>A (p.Val131=) rs889083956
NM_002778.4(PSAP):c.397T>C (p.Ser133Pro) rs2133045059
NM_002778.4(PSAP):c.398C>G (p.Ser133Cys)
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+16C>G
NM_002778.4(PSAP):c.40+19A>T
NM_002778.4(PSAP):c.40+6C>T rs2133075231
NM_002778.4(PSAP):c.40+8C>T
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.41-16T>C
NM_002778.4(PSAP):c.41-17G>A rs181164406
NM_002778.4(PSAP):c.41-17G>C
NM_002778.4(PSAP):c.41-17G>T
NM_002778.4(PSAP):c.41-17_42del rs2133053107
NM_002778.4(PSAP):c.41-18C>G
NM_002778.4(PSAP):c.41-18C>T
NM_002778.4(PSAP):c.41-18del
NM_002778.4(PSAP):c.41-19A>G
NM_002778.4(PSAP):c.41-19dup
NM_002778.4(PSAP):c.41-20C>T
NM_002778.4(PSAP):c.41-22_41-20del
NM_002778.4(PSAP):c.41-7A>G rs2133053123
NM_002778.4(PSAP):c.411C>T (p.Leu137=)
NM_002778.4(PSAP):c.423C>A (p.Leu141=)
NM_002778.4(PSAP):c.429G>A (p.Lys143=) rs573587297
NM_002778.4(PSAP):c.429G>C (p.Lys143Asn)
NM_002778.4(PSAP):c.42T>C (p.Ala14=)
NM_002778.4(PSAP):c.435A>G (p.Leu145=)
NM_002778.4(PSAP):c.439G>A (p.Glu147Lys)
NM_002778.4(PSAP):c.441G>A (p.Glu147=)
NM_002778.4(PSAP):c.450C>A (p.His150Gln) rs757752213
NM_002778.4(PSAP):c.450C>T (p.His150=)
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter)
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.475A>T (p.Ile159Phe)
NM_002778.4(PSAP):c.477C>T (p.Ile159=)
NM_002778.4(PSAP):c.48C>A (p.Ala16=)
NM_002778.4(PSAP):c.498G>A (p.Glu166=) rs2133044816
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser)
NM_002778.4(PSAP):c.504G>A (p.Val168=)
NM_002778.4(PSAP):c.510C>G (p.Pro170=)
NM_002778.4(PSAP):c.522C>T (p.Asn174=) rs1326511224
NM_002778.4(PSAP):c.524T>C (p.Ile175Thr)
NM_002778.4(PSAP):c.527dup (p.Leu177fs)
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.53C>T (p.Pro18Leu)
NM_002778.4(PSAP):c.54G>C (p.Pro18=) rs778317867
NM_002778.4(PSAP):c.550G>A (p.Gly184Ser)
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)
NM_002778.4(PSAP):c.558C>T (p.Arg186=)
NM_002778.4(PSAP):c.561C>T (p.Ser187=) rs2133044694
NM_002778.4(PSAP):c.567C>G (p.Pro189=)
NM_002778.4(PSAP):c.567C>T (p.Pro189=)
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
NM_002778.4(PSAP):c.576+13G>T
NM_002778.4(PSAP):c.576+18C>T
NM_002778.4(PSAP):c.576+3A>G rs2133044640
NM_002778.4(PSAP):c.576+7C>G rs755154023
NM_002778.4(PSAP):c.576+9A>G
NM_002778.4(PSAP):c.576+9_576+20del rs2133044608
NM_002778.4(PSAP):c.577-11C>T
NM_002778.4(PSAP):c.577-12C>T
NM_002778.4(PSAP):c.577-2A>G rs1589451050
NM_002778.4(PSAP):c.577-3T>C
NM_002778.4(PSAP):c.577-7T>G
NM_002778.4(PSAP):c.57C>A (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.57C>T (p.Val19=)
NM_002778.4(PSAP):c.585G>A (p.Gly195=)
NM_002778.4(PSAP):c.586G>A (p.Asp196Asn)
NM_002778.4(PSAP):c.594C>T (p.Cys198=) rs1383574711
NM_002778.4(PSAP):c.597G>A (p.Gln199=)
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys)
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.607del (p.Gln203fs)
NM_002778.4(PSAP):c.608A>G (p.Gln203Arg) rs1842430591
NM_002778.4(PSAP):c.609G>A (p.Gln203=) rs1842430531
NM_002778.4(PSAP):c.610A>T (p.Met204Leu) rs1842430461
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.642C>T (p.Thr214=) rs1842429688
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.648C>T (p.Ser216=)
NM_002778.4(PSAP):c.651C>G (p.Thr217=) rs371714848
NM_002778.4(PSAP):c.661G>T (p.Ala221Ser)
NM_002778.4(PSAP):c.663C>G (p.Ala221=) rs780126150
NM_002778.4(PSAP):c.666G>A (p.Leu222=)
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter) rs2133043442
NM_002778.4(PSAP):c.692A>G (p.Asp231Gly)
NM_002778.4(PSAP):c.694C>T (p.Arg232Cys)
NM_002778.4(PSAP):c.695G>T (p.Arg232Leu) rs147265566
NM_002778.4(PSAP):c.697C>G (p.Leu233Val)
NM_002778.4(PSAP):c.697C>T (p.Leu233=) rs146934980
NM_002778.4(PSAP):c.699G>A (p.Leu233=)
NM_002778.4(PSAP):c.69A>G (p.Lys23=)
NM_002778.4(PSAP):c.702C>T (p.Gly234=)
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)
NM_002778.4(PSAP):c.718A>G (p.Ile240Val)
NM_002778.4(PSAP):c.720+15C>T rs778910432
NM_002778.4(PSAP):c.720+16T>C
NM_002778.4(PSAP):c.720+1G>A
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
NM_002778.4(PSAP):c.720A>G (p.Ile240Met)
NM_002778.4(PSAP):c.721-11T>C
NM_002778.4(PSAP):c.721-12C>G
NM_002778.4(PSAP):c.721-19T>G
NM_002778.4(PSAP):c.721-1G>A rs1842392331
NM_002778.4(PSAP):c.721-1G>C rs1842392331
NM_002778.4(PSAP):c.721-20A>G
NM_002778.4(PSAP):c.721-5C>T
NM_002778.4(PSAP):c.721-5_721-3del
NM_002778.4(PSAP):c.721-8C>T
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter)
NM_002778.4(PSAP):c.723C>T (p.Cys241=)
NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer)
NM_002778.4(PSAP):c.727A>G (p.Asn243Asp) rs747236402
NM_002778.4(PSAP):c.729C>T (p.Asn243=)
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)
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.769A>T (p.Met257Leu)
NM_002778.4(PSAP):c.775A>G (p.Met259Val)
NM_002778.4(PSAP):c.777+10A>G
NM_002778.4(PSAP):c.777+16G>T
NM_002778.4(PSAP):c.777+19C>G
NM_002778.4(PSAP):c.777+1G>A
NM_002778.4(PSAP):c.777+1G>T
NM_002778.4(PSAP):c.777+9C>T rs774490507
NM_002778.4(PSAP):c.778-10C>G
NM_002778.4(PSAP):c.778-19T>G
NM_002778.4(PSAP):c.778-2A>G
NM_002778.4(PSAP):c.778-6C>T rs2133035424
NM_002778.4(PSAP):c.778-9T>C
NM_002778.4(PSAP):c.779A>G (p.Gln260Arg)
NM_002778.4(PSAP):c.785_788del (p.Lys262fs)
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)
NM_002778.4(PSAP):c.792C>T (p.Ile264=)
NM_002778.4(PSAP):c.794G>A (p.Cys265Tyr) rs1842310226
NM_002778.4(PSAP):c.7G>A (p.Ala3Thr)
NM_002778.4(PSAP):c.802G>A (p.Val268Ile)
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=)
NM_002778.4(PSAP):c.828G>A (p.Glu276=) rs2133035300
NM_002778.4(PSAP):c.834C>T (p.Pro278=) rs2133035278
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.847G>C (p.Val283Leu)
NM_002778.4(PSAP):c.84C>T (p.Gly28=) rs2133053002
NM_002778.4(PSAP):c.852C>A (p.Pro284=)
NM_002778.4(PSAP):c.859G>T (p.Val287Leu)
NM_002778.4(PSAP):c.867C>G (p.Ser289=) rs2133035197
NM_002778.4(PSAP):c.86C>G (p.Ser29Trp)
NM_002778.4(PSAP):c.86C>T (p.Ser29Leu)
NM_002778.4(PSAP):c.87G>A (p.Ser29=)
NM_002778.4(PSAP):c.87G>C (p.Ser29=) rs764061004
NM_002778.4(PSAP):c.885C>T (p.Ala295=) rs563653978
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)
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358
NM_002778.4(PSAP):c.909+12C>G
NM_002778.4(PSAP):c.909+13A>C
NM_002778.4(PSAP):c.909+17T>A
NM_002778.4(PSAP):c.909+17T>C
NM_002778.4(PSAP):c.909+18G>A
NM_002778.4(PSAP):c.909+7G>A
NM_002778.4(PSAP):c.909+8dup
NM_002778.4(PSAP):c.90A>C (p.Ala30=) rs2133052977
NM_002778.4(PSAP):c.910-13A>C
NM_002778.4(PSAP):c.910-13A>T
NM_002778.4(PSAP):c.910-16_910-14del
NM_002778.4(PSAP):c.910-18C>T
NM_002778.4(PSAP):c.910-18_910-15del
NM_002778.4(PSAP):c.910-8T>G rs2133032996
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.4(PSAP):c.932C>G (p.Ser311Cys) rs762828056
NM_002778.4(PSAP):c.935A>G (p.Asp312Gly)
NM_002778.4(PSAP):c.939T>C (p.Val313=)
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) rs1589447082
NM_002778.4(PSAP):c.951G>A (p.Val317=) rs2133032801
NM_002778.4(PSAP):c.961C>T (p.Leu321=)
NM_002778.4(PSAP):c.963G>A (p.Leu321=) rs2133032778
NM_002778.4(PSAP):c.990C>T (p.Asp330=) rs746313696
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del)
NM_002778.4(PSAP):c.99C>T (p.Cys33=)
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.