ClinVar Miner

List of variants in gene HBA-LCR, NPRL3 studied for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 662
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1351+75T>C rs2239299 0.98102
NM_001077350.3(NPRL3):c.548-64A>G rs808892 0.87694
NM_001077350.3(NPRL3):c.1032-102A>G rs2541618 0.84201
NM_001077350.3(NPRL3):c.768-53C>T rs2541616 0.82761
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=) rs1128426 0.02170
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His) rs73478320 0.01540
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=) rs75187722 0.01456
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849 0.01129
NM_001077350.3(NPRL3):c.1544+18C>T rs147148279 0.00424
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=) rs140092767 0.00419
NM_001077350.3(NPRL3):c.629+9G>C rs142080016 0.00290
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989 0.00156
NM_001077350.3(NPRL3):c.1351+19C>T rs372572343 0.00146
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp) rs201957188 0.00141
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937 0.00086
NM_001077350.3(NPRL3):c.189-15C>G rs183021938 0.00061
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys) rs201069648 0.00029
NM_001077350.3(NPRL3):c.119-13C>T rs370419688 0.00028
NM_001077350.3(NPRL3):c.1351+7C>T rs376215928 0.00027
NM_001077350.3(NPRL3):c.630-9T>C rs374656133 0.00027
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys) rs200041907 0.00026
NM_001077350.3(NPRL3):c.118+11G>A rs368365304 0.00021
NM_001077350.3(NPRL3):c.1544+20T>C rs376979785 0.00021
NM_001077350.3(NPRL3):c.767+19G>A rs112754051 0.00020
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358 0.00019
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025 0.00016
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961 0.00014
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568 0.00014
NM_001077350.3(NPRL3):c.394-13C>G rs376971014 0.00014
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn) rs186859701 0.00014
NM_001077350.3(NPRL3):c.188+13C>T rs373318523 0.00012
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=) rs372639365 0.00012
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys) rs202129021 0.00012
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00012
NM_001077350.3(NPRL3):c.1192C>T (p.Leu398=) rs575256508 0.00011
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile) rs776554504 0.00011
NM_001077350.3(NPRL3):c.318+8T>G rs370788298 0.00010
NM_001077350.3(NPRL3):c.1162-5C>T rs768868339 0.00009
NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp) rs372094629 0.00009
NM_001077350.3(NPRL3):c.156C>T (p.Gly52=) rs369462371 0.00009
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=) rs559760517 0.00008
NM_001077350.3(NPRL3):c.768-15G>A rs189005933 0.00008
NM_001077350.3(NPRL3):c.119-8C>T rs536194590 0.00007
NM_001077350.3(NPRL3):c.1251C>T (p.Ser417=) rs534585670 0.00007
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=) rs571533880 0.00007
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln) rs367729589 0.00007
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=) rs748812702 0.00007
NM_001077350.3(NPRL3):c.548-10A>T rs749419450 0.00007
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=) rs762516395 0.00006
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln) rs781225056 0.00006
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr) rs752246132 0.00006
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg) rs374687256 0.00006
NM_001077350.3(NPRL3):c.188+14G>A rs368999536 0.00006
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys) rs374060440 0.00006
NM_001077350.3(NPRL3):c.630-19C>G rs753781901 0.00006
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln) rs201341279 0.00006
NM_001077350.3(NPRL3):c.951G>A (p.Val317=) rs747655659 0.00006
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu) rs763923760 0.00005
NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=) rs577949063 0.00005
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_001077350.3(NPRL3):c.118+7G>A rs753617978 0.00005
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys) rs775053528 0.00005
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080 0.00005
NM_001077350.3(NPRL3):c.629+16G>C rs148320642 0.00005
NM_001077350.3(NPRL3):c.924+14G>A rs754657607 0.00005
NM_001077350.3(NPRL3):c.1089C>T (p.Ser363=) rs774948028 0.00004
NM_001077350.3(NPRL3):c.1212C>A (p.Ile404=) rs772565196 0.00004
NM_001077350.3(NPRL3):c.1281C>T (p.Asp427=) rs376125073 0.00004
NM_001077350.3(NPRL3):c.1302C>T (p.Val434=) rs570086678 0.00004
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys) rs530150587 0.00004
NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=) rs376164029 0.00004
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=) rs767665276 0.00004
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr) rs374486402 0.00004
NM_001077350.3(NPRL3):c.393+19G>C rs376254663 0.00004
NM_001077350.3(NPRL3):c.489C>A (p.Leu163=) rs376237512 0.00004
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val) rs778177582 0.00004
NM_001077350.3(NPRL3):c.547+16C>T rs373390759 0.00004
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp) rs769173039 0.00004
NM_001077350.3(NPRL3):c.64C>T (p.Leu22=) rs747813822 0.00004
NM_001077350.3(NPRL3):c.924+7C>G rs778499898 0.00004
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr) rs772044858 0.00004
NM_001077350.3(NPRL3):c.996C>T (p.Asn332=) rs368729384 0.00004
NM_001077350.3(NPRL3):c.1047C>T (p.Ala349=) rs373353333 0.00003
NM_001077350.3(NPRL3):c.1113G>C (p.Pro371=) rs148130584 0.00003
NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val) rs375562061 0.00003
NM_001077350.3(NPRL3):c.1162-4G>A rs539175375 0.00003
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln) rs868451771 0.00003
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu) rs762676113 0.00003
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys) rs753763592 0.00003
NM_001077350.3(NPRL3):c.1305C>T (p.Gly435=) rs755635095 0.00003
NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=) rs758047816 0.00003
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn) rs748391280 0.00003
NM_001077350.3(NPRL3):c.408G>A (p.Pro136=) rs757635247 0.00003
NM_001077350.3(NPRL3):c.547+9A>C rs370796954 0.00003
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg) rs191687929 0.00003
NM_001077350.3(NPRL3):c.639G>A (p.Thr213=) rs770198792 0.00003
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu) rs556232826 0.00003
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=) rs368272925 0.00003
NM_001077350.3(NPRL3):c.767+6T>C rs745822946 0.00003
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=) rs549291288 0.00003
NM_001077350.3(NPRL3):c.1032-8G>A rs370350676 0.00002
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys) rs761443880 0.00002
NM_001077350.3(NPRL3):c.1162-1G>C rs751418986 0.00002
NM_001077350.3(NPRL3):c.119-18C>T rs1452152293 0.00002
NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His) rs535478389 0.00002
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His) rs765841003 0.00002
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys) rs770318147 0.00002
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile) rs771113936 0.00002
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser) rs548390527 0.00002
NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=) rs770952322 0.00002
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr) rs368198378 0.00002
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met) rs1055200832 0.00002
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His) rs750844568 0.00002
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys) rs747602641 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg) rs959374963 0.00002
NM_001077350.3(NPRL3):c.432C>T (p.Asn144=) rs371406653 0.00002
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly) rs762922931 0.00002
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro) rs752487586 0.00002
NM_001077350.3(NPRL3):c.645C>T (p.Gly215=) rs770998374 0.00002
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=) rs775687534 0.00002
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro) rs747035776 0.00002
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala) rs746568841 0.00002
NM_001077350.3(NPRL3):c.88A>C (p.Arg30=) rs542337990 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser) rs375417903 0.00002
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=) rs781712669 0.00001
NM_001077350.3(NPRL3):c.1031+10G>A rs554242910 0.00001
NM_001077350.3(NPRL3):c.1032G>A (p.Leu344=) rs745938544 0.00001
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser) rs765599501 0.00001
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556 0.00001
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile) rs769246932 0.00001
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg) rs776081581 0.00001
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu) rs747324879 0.00001
NM_001077350.3(NPRL3):c.1128A>G (p.Glu376=) rs779153012 0.00001
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr) rs751307143 0.00001
NM_001077350.3(NPRL3):c.1162-19C>T rs973832371 0.00001
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys) rs1331117963 0.00001
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=) rs752646070 0.00001
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) rs764156867 0.00001
NM_001077350.3(NPRL3):c.118+15G>C rs1380711428 0.00001
NM_001077350.3(NPRL3):c.118+9G>A rs766369663 0.00001
NM_001077350.3(NPRL3):c.118A>G (p.Ser40Gly) rs1901205892 0.00001
NM_001077350.3(NPRL3):c.119-4T>C rs1432084309 0.00001
NM_001077350.3(NPRL3):c.119-9C>T rs1291323858 0.00001
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys) rs556683821 0.00001
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp) rs375530015 0.00001
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe) rs899497821 0.00001
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His) rs1426917813 0.00001
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405 0.00001
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu) rs746082270 0.00001
NM_001077350.3(NPRL3):c.1269G>A (p.Pro423=) rs762331419 0.00001
NM_001077350.3(NPRL3):c.126G>A (p.Pro42=) rs370587053 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn) rs769778379 0.00001
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn) rs529009740 0.00001
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe) rs763320453 0.00001
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser) rs868572770 0.00001
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser) rs941137627 0.00001
NM_001077350.3(NPRL3):c.1351+20G>A rs1474643956 0.00001
NM_001077350.3(NPRL3):c.1352-14C>G rs772331175 0.00001
NM_001077350.3(NPRL3):c.1352-15C>T rs1017477594 0.00001
NM_001077350.3(NPRL3):c.1352-9C>A rs539074617 0.00001
NM_001077350.3(NPRL3):c.138C>T (p.Tyr46=) rs1021001959 0.00001
NM_001077350.3(NPRL3):c.139G>A (p.Ala47Thr) rs1401901852 0.00001
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu) rs750482582 0.00001
NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=) rs370803087 0.00001
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser) rs1898620865 0.00001
NM_001077350.3(NPRL3):c.147C>T (p.Ser49=) rs1157537547 0.00001
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys) rs756589112 0.00001
NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=) rs1253562574 0.00001
NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=) rs776547593 0.00001
NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr) rs372717858 0.00001
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met) rs777208794 0.00001
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His) rs375305549 0.00001
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val) rs768263296 0.00001
NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=) rs749698102 0.00001
NM_001077350.3(NPRL3):c.153G>A (p.Thr51=) rs771331057 0.00001
NM_001077350.3(NPRL3):c.1544+12T>C rs746389609 0.00001
NM_001077350.3(NPRL3):c.1544+19G>A rs758718371 0.00001
NM_001077350.3(NPRL3):c.164C>G (p.Ala55Gly) rs1217583836 0.00001
NM_001077350.3(NPRL3):c.177C>T (p.Asp59=) rs1048069050 0.00001
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn) rs1901212695 0.00001
NM_001077350.3(NPRL3):c.198T>C (p.Asp66=) rs1900183713 0.00001
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu) rs770799124 0.00001
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val) rs1900182866 0.00001
NM_001077350.3(NPRL3):c.273G>A (p.Val91=) rs1427607213 0.00001
NM_001077350.3(NPRL3):c.30G>C (p.Val10=) rs772703167 0.00001
NM_001077350.3(NPRL3):c.319-4A>G rs1033435405 0.00001
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu) rs979345384 0.00001
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=) rs368936546 0.00001
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr) rs779581743 0.00001
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu) rs547462000 0.00001
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=) rs752160458 0.00001
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met) rs539649449 0.00001
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His) rs1215682749 0.00001
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys) rs769300436 0.00001
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His) rs370299128 0.00001
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=) rs1218964632 0.00001
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr) rs755120736 0.00001
NM_001077350.3(NPRL3):c.548-16G>A rs369053251 0.00001
NM_001077350.3(NPRL3):c.548-6T>C rs780258721 0.00001
NM_001077350.3(NPRL3):c.579C>T (p.His193=) rs777493106 0.00001
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met) rs776199294 0.00001
NM_001077350.3(NPRL3):c.642G>A (p.Ser214=) rs368182847 0.00001
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val) rs761366554 0.00001
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=) rs751260495 0.00001
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr) rs1899228613 0.00001
NM_001077350.3(NPRL3):c.732C>T (p.Pro244=) rs1196165192 0.00001
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln) rs763479734 0.00001
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp) rs577935445 0.00001
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn) rs916257624 0.00001
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=) rs554325689 0.00001
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val) rs984688777 0.00001
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val) rs764890667 0.00001
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys) rs1021394339 0.00001
NM_001077350.3(NPRL3):c.861G>A (p.Lys287=) rs767611082 0.00001
NM_001077350.3(NPRL3):c.906G>A (p.Ala302=) rs771726316 0.00001
NM_001077350.3(NPRL3):c.946C>T (p.Leu316=) rs1472693052 0.00001
NM_001077350.3(NPRL3):c.981G>A (p.Pro327=) rs371414303 0.00001
NM_001077350.3(NPRL3):c.984G>A (p.Leu328=) rs866882831 0.00001
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.92726del rs2141908063
NC_000016.9:g.(?_167280)_(188286_?)dup
NC_000016.9:g.(?_180501)_(188286_?)dup
NC_000016.9:g.(?_188129)_(188286_?)dup
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu) rs1405349026
NM_001077350.3(NPRL3):c.1014C>T (p.Pro338=)
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile) rs11558704
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs) rs1898837245
NM_001077350.3(NPRL3):c.1031+2_1031+3del rs2141909104
NM_001077350.3(NPRL3):c.1031+5G>A
NM_001077350.3(NPRL3):c.1031+7G>A
NM_001077350.3(NPRL3):c.1032-14T>C
NM_001077350.3(NPRL3):c.1032-20G>A rs758612387
NM_001077350.3(NPRL3):c.1032-20G>T
NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser) rs1388346755
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His) rs2141907979
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu) rs1229321872
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
NM_001077350.3(NPRL3):c.1104C>T (p.Phe368=) rs2141907858
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys) rs1050077507
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup) rs780621579
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=) rs148130584
NM_001077350.3(NPRL3):c.1119C>A (p.Ser373=) rs2141907799
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.3(NPRL3):c.1120T>C (p.Leu374=)
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
NM_001077350.3(NPRL3):c.1140C>T (p.Pro380=)
NM_001077350.3(NPRL3):c.1143G>C (p.Leu381=) rs1898808230
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg) rs1898807635
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=) rs577949063
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met) rs1898807118
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter) rs1371859768
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
NM_001077350.3(NPRL3):c.1161+10A>C rs2141907621
NM_001077350.3(NPRL3):c.1161+15C>A
NM_001077350.3(NPRL3):c.1161+1G>A
NM_001077350.3(NPRL3):c.1161+20G>A
NM_001077350.3(NPRL3):c.1161+5G>A
NM_001077350.3(NPRL3):c.1161+6T>C
NM_001077350.3(NPRL3):c.1162-13C>T
NM_001077350.3(NPRL3):c.1162-18A>C
NM_001077350.3(NPRL3):c.1162-4G>C rs539175375
NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile) rs758123622
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter) rs2141902592
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs) rs2141902589
NM_001077350.3(NPRL3):c.118+11G>T
NM_001077350.3(NPRL3):c.118+16G>T
NM_001077350.3(NPRL3):c.118+18G>C
NM_001077350.3(NPRL3):c.118+18_118+40del
NM_001077350.3(NPRL3):c.118+19G>C
NM_001077350.3(NPRL3):c.118+1G>A
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.118+6T>C
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del) rs992225807
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001077350.3(NPRL3):c.119-12G>A rs554836466
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.119-20C>T
NM_001077350.3(NPRL3):c.119-2A>G rs1361784389
NM_001077350.3(NPRL3):c.119-3C>G rs1900744785
NM_001077350.3(NPRL3):c.119-5C>T rs1596539888
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser) rs556683821
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr) rs1277893899
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser) rs759212295
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
NM_001077350.3(NPRL3):c.1206T>C (p.Leu402=)
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro) rs2141902503
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs) rs1898686157
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.1217_1351+24delinsC rs2141901872
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu) rs1299719512
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile) rs762208602
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs) rs1898687282
NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val) rs749424318
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile) rs1057524503
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg) rs746082270
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del) rs765072700
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup) rs2141902200
NM_001077350.3(NPRL3):c.1268C>A (p.Pro423Gln) rs200792895
NM_001077350.3(NPRL3):c.126G>T (p.Pro42=) rs370587053
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu) rs74712570
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=) rs74712570
NM_001077350.3(NPRL3):c.1287C>G (p.Pro429=) rs2141902159
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs) rs1288771812
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His) rs376476299
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro) rs376476299
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu) rs376476299
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser) rs2141902154
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro) rs781225056
NM_001077350.3(NPRL3):c.1299G>T (p.Arg433=) rs749182879
NM_001077350.3(NPRL3):c.12C>T (p.Asn4=) rs1719721939
NM_001077350.3(NPRL3):c.1302C>G (p.Val434=)
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val) rs767317111
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg) rs1336372042
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=) rs1374917107
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met) rs776673140
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs) rs1898675878
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=) rs1272247635
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
NM_001077350.3(NPRL3):c.1351+11C>T
NM_001077350.3(NPRL3):c.1351+11dup
NM_001077350.3(NPRL3):c.1351+16C>T
NM_001077350.3(NPRL3):c.1351+19C>G
NM_001077350.3(NPRL3):c.1351+3A>G
NM_001077350.3(NPRL3):c.1351+9C>T
NM_001077350.3(NPRL3):c.1352-10T>A
NM_001077350.3(NPRL3):c.1352-10_1368del
NM_001077350.3(NPRL3):c.1352-17A>G
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1352-5C>A rs745831986
NM_001077350.3(NPRL3):c.1352-5C>T
NM_001077350.3(NPRL3):c.1352-6C>T
NM_001077350.3(NPRL3):c.1352-9C>G rs539074617
NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=) rs2141900180
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=) rs756373989
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=) rs1218207644
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs) rs1898627430
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser) rs1401901852
NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=) rs2141900060
NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu) rs2141899988
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg) rs774394208
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys) rs2141899969
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=) rs747844612
NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)
NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)
NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs) rs57321480
NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=) rs1172480661
NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter) rs2141899833
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val) rs1898614224
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del) rs2141899739
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn) rs776554504
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile) rs2141899710
NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=) rs2141899690
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
NM_001077350.3(NPRL3):c.1544+1del rs1898611246
NM_001077350.3(NPRL3):c.1544+3_1544+5del rs1898611086
NM_001077350.3(NPRL3):c.15del (p.Ser6fs) rs2141995568
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg) rs1900741473
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys) rs907712162
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu) rs1048069050
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
NM_001077350.3(NPRL3):c.188+10C>T
NM_001077350.3(NPRL3):c.188+13C>A
NM_001077350.3(NPRL3):c.188+5A>C
NM_001077350.3(NPRL3):c.188+5A>G
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.189-3A>G rs1900184532
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr) rs1901212556
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr) rs1900182442
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter) rs1900181500
NM_001077350.3(NPRL3):c.258G>A (p.Leu86=) rs2141960692
NM_001077350.3(NPRL3):c.258del (p.Lys87fs) rs2141960699
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly) rs760236969
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.280del (p.Val94fs) rs2141960644
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala) rs1900178756
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile) rs1596528750
NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val) rs1900178162
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met) rs1900177602
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter) rs1215657187
NM_001077350.3(NPRL3):c.318+11C>A
NM_001077350.3(NPRL3):c.318+13C>T rs376154100
NM_001077350.3(NPRL3):c.318+13_318+52del rs1311321918
NM_001077350.3(NPRL3):c.318+13_318+72del rs2141960376
NM_001077350.3(NPRL3):c.318+14T>C
NM_001077350.3(NPRL3):c.318+16G>A
NM_001077350.3(NPRL3):c.318+18C>A
NM_001077350.3(NPRL3):c.318+18C>T
NM_001077350.3(NPRL3):c.318+1G>A rs2141960559
NM_001077350.3(NPRL3):c.318+3A>G rs746765533
NM_001077350.3(NPRL3):c.319-10T>A rs1900090284
NM_001077350.3(NPRL3):c.319-13G>A rs953340982
NM_001077350.3(NPRL3):c.319-13G>C
NM_001077350.3(NPRL3):c.319-18A>G
NM_001077350.3(NPRL3):c.319-1G>A
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.369T>G (p.Leu123=) rs2141957568
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala) rs1024335545
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly) rs1024335545
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.393+13A>G rs767844249
NM_001077350.3(NPRL3):c.393+3G>C rs1567141885
NM_001077350.3(NPRL3):c.393+4_393+7del rs757371554
NM_001077350.3(NPRL3):c.393+5G>A
NM_001077350.3(NPRL3):c.393+7G>C
NM_001077350.3(NPRL3):c.394-11C>T
NM_001077350.3(NPRL3):c.394-12T>C
NM_001077350.3(NPRL3):c.394-16_394-15delinsTT
NM_001077350.3(NPRL3):c.394-1747del rs2141952986
NM_001077350.3(NPRL3):c.394-20G>A rs2141950467
NM_001077350.3(NPRL3):c.394-20_394-19del rs1899875996
NM_001077350.3(NPRL3):c.394-9C>T
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr) rs1899875190
NM_001077350.3(NPRL3):c.396C>T (p.Ala132=) rs1289225879
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln) rs547462000
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs) rs2141950334
NM_001077350.3(NPRL3):c.420C>T (p.Asn140=) rs1330216548
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr) rs764927474
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His) rs1470285968
NM_001077350.3(NPRL3):c.44del (p.Ser15fs) rs1901211202
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala) rs1899870989
NM_001077350.3(NPRL3):c.453C>T (p.Thr151=)
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter) rs2141950212
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln) rs774187145
NM_001077350.3(NPRL3):c.465C>T (p.His155=) rs774187145
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter) rs1596522356
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter) rs1899868619
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
NM_001077350.3(NPRL3):c.516G>A (p.Ala172=) rs758642036
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs) rs2141950064
NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
NM_001077350.3(NPRL3):c.531G>A (p.Val177=) rs1899866156
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val) rs1452724103
NM_001077350.3(NPRL3):c.547+12A>C
NM_001077350.3(NPRL3):c.547+12A>G rs1394524575
NM_001077350.3(NPRL3):c.547+16C>A
NM_001077350.3(NPRL3):c.547+1G>A rs1899864955
NM_001077350.3(NPRL3):c.547+1G>C rs1899864955
NM_001077350.3(NPRL3):c.547+20A>T
NM_001077350.3(NPRL3):c.547+2T>A
NM_001077350.3(NPRL3):c.548-3T>C
NM_001077350.3(NPRL3):c.548-5T>C
NM_001077350.3(NPRL3):c.548-7C>T
NM_001077350.3(NPRL3):c.552T>C (p.Asn184=) rs2141946239
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg) rs2141946228
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser) rs1899761608
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr) rs1367511037
NM_001077350.3(NPRL3):c.591G>A (p.Lys197=) rs776506827
NM_001077350.3(NPRL3):c.591_629+634del rs1899713412
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala) rs1899757551
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs) rs2141946070
NM_001077350.3(NPRL3):c.629+1G>A rs2141946055
NM_001077350.3(NPRL3):c.629+1G>T rs2141946055
NM_001077350.3(NPRL3):c.629+3A>G
NM_001077350.3(NPRL3):c.629+4A>G rs1220187651
NM_001077350.3(NPRL3):c.629+5G>A rs2141946040
NM_001077350.3(NPRL3):c.629+8A>G
NM_001077350.3(NPRL3):c.629+9G>A
NM_001077350.3(NPRL3):c.630-13C>T
NM_001077350.3(NPRL3):c.630-15G>A
NM_001077350.3(NPRL3):c.630-16C>T
NM_001077350.3(NPRL3):c.630-1G>A rs1899235603
NM_001077350.3(NPRL3):c.630-21_630-20dup
NM_001077350.3(NPRL3):c.630-3C>G rs2141925516
NM_001077350.3(NPRL3):c.630-7T>C rs2141925531
NM_001077350.3(NPRL3):c.644del (p.Gly215fs) rs1899234101
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro) rs201341279
NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu) rs1899232122
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
NM_001077350.3(NPRL3):c.687C>T (p.Phe229=) rs1596508663
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del) rs1300716374
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu) rs1899230843
NM_001077350.3(NPRL3):c.714G>C (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.714G>T (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs) rs2141925225
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser) rs1225559784
NM_001077350.3(NPRL3):c.732C>A (p.Pro244=) rs1196165192
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
NM_001077350.3(NPRL3):c.744C>A (p.Ile248=) rs375592476
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met) rs375592476
NM_001077350.3(NPRL3):c.744C>T (p.Ile248=) rs375592476
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter) rs200041907
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp) rs2141925147
NM_001077350.3(NPRL3):c.748C>A (p.Arg250=)
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln) rs947759739
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr) rs1901209994
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met) rs1901209994
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val) rs1899225654
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
NM_001077350.3(NPRL3):c.765C>T (p.Ile255=)
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys) rs779688768
NM_001077350.3(NPRL3):c.767+12G>A
NM_001077350.3(NPRL3):c.767+12G>T
NM_001077350.3(NPRL3):c.767+15C>A
NM_001077350.3(NPRL3):c.767+17A>C
NM_001077350.3(NPRL3):c.767+18C>T rs377414615
NM_001077350.3(NPRL3):c.767+19del
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.767+1del rs2141925052
NM_001077350.3(NPRL3):c.768-10T>G rs566886246
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.768-2del rs1899110688
NM_001077350.3(NPRL3):c.768-6T>C
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg) rs1899109777
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro) rs1899109340
NM_001077350.3(NPRL3):c.789G>A (p.Leu263=) rs1269886749
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter) rs2141995468
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
NM_001077350.3(NPRL3):c.807C>A (p.Ser269=) rs1033607990
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
NM_001077350.3(NPRL3):c.834C>T (p.Cys278=)
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
NM_001077350.3(NPRL3):c.844C>T (p.Leu282=) rs755359263
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln) rs1437185591
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
NM_001077350.3(NPRL3):c.883C>T (p.Leu295=) rs2141920152
NM_001077350.3(NPRL3):c.891G>A (p.Gln297=)
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del) rs2141995584
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val) rs2141920111
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924+17C>A
NM_001077350.3(NPRL3):c.924+3A>G
NM_001077350.3(NPRL3):c.924+5A>T rs1899101610
NM_001077350.3(NPRL3):c.924+9C>G
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.925-10T>C
NM_001077350.3(NPRL3):c.925-12dup rs776084653
NM_001077350.3(NPRL3):c.925-1G>C rs1898844907
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001077350.3(NPRL3):c.925-2A>T rs1431914212
NM_001077350.3(NPRL3):c.925-3C>T rs2141909476
NM_001077350.3(NPRL3):c.925-6C>T
NM_001077350.3(NPRL3):c.925-8del rs2141909491
NM_001077350.3(NPRL3):c.925-9T>C
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn) rs780716774
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) rs1898844513
NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del) rs1287678265
NM_001077350.3(NPRL3):c.975C>A (p.Ile325=) rs2141909339
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser) rs2141909329
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del) rs1555440242
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
NM_001077350.3(NPRL3):c.999C>A (p.Val333=)
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp) rs2141995418
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu) rs1478358968

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