ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Total variants: 977
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129 0.00134
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234 0.00080
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085 0.00063
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767 0.00061
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663 0.00059
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729 0.00046
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374 0.00038
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152419.3(HGSNAT):c.1251-4C>T rs374882647 0.00027
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=) rs376382820 0.00022
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.493+13T>A rs201688937 0.00019
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00018
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) rs371042202 0.00017
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn) rs554146681 0.00017
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00016
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_152419.3(HGSNAT):c.321C>T (p.His107=) rs571883806 0.00016
NM_152419.3(HGSNAT):c.821-28T>C rs201415703 0.00014
NM_152419.3(HGSNAT):c.1128+8A>G rs371054148 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_152419.3(HGSNAT):c.1378-20T>G rs376109017 0.00012
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=) rs374463372 0.00011
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 0.00010
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=) rs756091468 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys) rs201735532 0.00008
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=) rs1373363345 0.00008
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113 0.00008
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr) rs369975831 0.00008
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_152419.3(HGSNAT):c.1542+18C>T rs1013624277 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_152419.3(HGSNAT):c.633+20G>C rs144188129 0.00006
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=) rs754275273 0.00006
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val) rs777641646 0.00006
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys) rs564435701 0.00006
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482 0.00005
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg) rs980989948 0.00005
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe) rs369280586 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.118+17T>C rs912987473 0.00004
NM_152419.3(HGSNAT):c.1250+6C>T rs762012939 0.00004
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=) rs752420375 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00004
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg) rs553588867 0.00004
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser) rs754415813 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00004
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254 0.00004
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly) rs373688314 0.00004
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala) rs201952563 0.00004
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg) rs751331792 0.00004
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=) rs1000820440 0.00004
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=) rs1461385635 0.00004
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00004
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=) rs374020825 0.00003
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe) rs995331214 0.00003
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu) rs762498109 0.00003
NM_152419.3(HGSNAT):c.1129-6A>G rs777965568 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152419.3(HGSNAT):c.1250+11C>A rs185075731 0.00003
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=) rs765410268 0.00003
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu) rs746875137 0.00003
NM_152419.3(HGSNAT):c.1542+20C>T rs548171657 0.00003
NM_152419.3(HGSNAT):c.234+17A>G rs1177889475 0.00003
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg) rs368082613 0.00003
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val) rs138736400 0.00003
NM_152419.3(HGSNAT):c.563+20C>T rs367934394 0.00003
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=) rs561712734 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=) rs376484914 0.00003
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp) rs375524490 0.00003
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729 0.00002
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser) rs749415090 0.00002
NM_152419.3(HGSNAT):c.1128+3G>A rs1401358094 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1377+14G>A rs781546106 0.00002
NM_152419.3(HGSNAT):c.1377+19C>T rs753305419 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg) rs773361163 0.00002
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val) rs374619489 0.00002
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=) rs769399813 0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=) rs367648422 0.00002
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=) rs374563604 0.00002
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val) rs372055513 0.00002
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=) rs751419441 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp) rs774990357 0.00002
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=) rs1303093971 0.00002
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr) rs773638310 0.00002
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=) rs1187482453 0.00002
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=) rs371569367 0.00002
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=) rs747338801 0.00001
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=) rs748217780 0.00001
NM_152419.3(HGSNAT):c.1012+10T>A rs372410947 0.00001
NM_152419.3(HGSNAT):c.1013-12T>G rs199736308 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=) rs767921078 0.00001
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile) rs1200184747 0.00001
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967 0.00001
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=) rs1401712530 0.00001
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.1129-5C>T rs1220052687 0.00001
NM_152419.3(HGSNAT):c.1129-7C>T rs756262049 0.00001
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=) rs768343523 0.00001
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met) rs370653879 0.00001
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=) rs761414980 0.00001
NM_152419.3(HGSNAT):c.118+10C>A rs768117824 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe) rs1425393733 0.00001
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile) rs1410211396 0.00001
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=) rs779284289 0.00001
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr) rs1804531287 0.00001
NM_152419.3(HGSNAT):c.1251-16C>G rs371770607 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=) rs748987930 0.00001
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=) rs759417010 0.00001
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val) rs1016164503 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=) rs376647117 0.00001
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=) rs1411732379 0.00001
NM_152419.3(HGSNAT):c.1377+7G>C rs1225445756 0.00001
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=) rs767972481 0.00001
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596 0.00001
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=) rs779933668 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1465-14G>A rs1484663572 0.00001
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val) rs766052009 0.00001
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro) rs1433404175 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser) rs762252722 0.00001
NM_152419.3(HGSNAT):c.1543-20C>A rs201435854 0.00001
NM_152419.3(HGSNAT):c.1543-7A>G rs781471935 0.00001
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=) rs1440154264 0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu) rs1804772048 0.00001
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=) rs757706222 0.00001
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=) rs761500930 0.00001
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=) rs752785040 0.00001
NM_152419.3(HGSNAT):c.1727-13C>G rs747875081 0.00001
NM_152419.3(HGSNAT):c.1727-17A>G rs780686580 0.00001
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys) rs1163166400 0.00001
NM_152419.3(HGSNAT):c.1815C>T (p.His605=) rs1249488528 0.00001
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=) rs769449292 0.00001
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val) rs776791119 0.00001
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro) rs1304780108 0.00001
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr) rs1240119393 0.00001
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys) rs773631016 0.00001
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=) rs1804852687 0.00001
NM_152419.3(HGSNAT):c.234+10A>T rs1802742419 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.234C>T (p.His78=) rs760790643 0.00001
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=) rs772299811 0.00001
NM_152419.3(HGSNAT):c.261T>A (p.Val87=) rs1461875540 0.00001
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=) rs766369405 0.00001
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=) rs755833800 0.00001
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg) rs1427202401 0.00001
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr) rs768887468 0.00001
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666 0.00001
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=) rs200079240 0.00001
NM_152419.3(HGSNAT):c.366T>G (p.Val122=) rs1803172362 0.00001
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=) rs1258501549 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=) rs1051098032 0.00001
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp) rs1399122628 0.00001
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=) rs763777880 0.00001
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=) rs1351688097 0.00001
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=) rs1803185644 0.00001
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=) rs1802479958 0.00001
NM_152419.3(HGSNAT):c.493+4C>T rs372471081 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser) rs752128693 0.00001
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=) rs953533399 0.00001
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=) rs1408418542 0.00001
NM_152419.3(HGSNAT):c.563+7T>C rs756465413 0.00001
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) rs1355715592 0.00001
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn) rs763403091 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys) rs199861011 0.00001
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=) rs1164054537 0.00001
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly) rs1803591916 0.00001
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe) rs1358373785 0.00001
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala) rs758464800 0.00001
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His) rs371869844 0.00001
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu) rs1218261294 0.00001
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His) rs1231838743 0.00001
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=) rs181728385 0.00001
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=) rs997906795 0.00001
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile) rs751701983 0.00001
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=) rs376365655 0.00001
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg) rs1387365931 0.00001
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=) rs1277158595 0.00001
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe) rs1245295975 0.00001
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met) rs1287447019 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=) rs368058038 0.00001
NM_152419.3(HGSNAT):c.851+7T>G rs756810802 0.00001
NM_152419.3(HGSNAT):c.851+9C>T rs755549867 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys) rs777146364 0.00001
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=) rs200637619 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535 0.00001
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala) rs1490698793 0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142 0.00001
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val) rs1446334240 0.00001
NM_152419.3(HGSNAT):c.987G>C (p.Val329=) rs1241816731 0.00001
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_42958692)_(43016670_?)dup
NC_000008.10:g.(?_42958692)_(43054712_?)dup
NC_000008.10:g.(?_42977230)_(43002226_?)del
NC_000008.10:g.(?_43002071)_(43033397_?)del
NC_000008.10:g.(?_43002091)_(43159912_?)dup
NC_000008.10:g.(?_43013698)_(43014207_?)del
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.10:g.(?_43024296)_(43024405_?)del
NC_000008.10:g.(?_43024296)_(43054712_?)dup
NC_000008.10:g.(?_43025708)_(43028906_?)del
NC_000008.10:g.(?_43027433)_(43027549_?)del
NC_000008.10:g.(?_43027433)_(43054712_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43033197)_(43033397_?)dup
NC_000008.10:g.(?_43033197)_(43054712_?)dup
NC_000008.10:g.(?_43037268)_(43054712_?)dup
NC_000008.10:g.(?_43046597)_(43054712_?)dup
NC_000008.10:g.(?_43052071)_(43054712_?)del
NC_000008.10:g.(?_43052071)_(43054712_?)dup
NC_000008.11:g.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys) rs2130766732
NM_152419.3(HGSNAT):c.1012+14C>A
NM_152419.3(HGSNAT):c.1012+14C>T
NM_152419.3(HGSNAT):c.1012+15C>T
NM_152419.3(HGSNAT):c.1012+19T>C
NM_152419.3(HGSNAT):c.1012+7A>G
NM_152419.3(HGSNAT):c.1012+7dup
NM_152419.3(HGSNAT):c.1012+8C>A
NM_152419.3(HGSNAT):c.1012+8del rs2130766762
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
NM_152419.3(HGSNAT):c.1013-12T>C
NM_152419.3(HGSNAT):c.1013-15_1013-14del
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1013-20C>T rs1804147010
NM_152419.3(HGSNAT):c.1013-4G>A rs1260943762
NM_152419.3(HGSNAT):c.1013-9C>G rs2130783567
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu) rs1276314637
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val) rs2130783652
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs) rs2130783645
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=) rs2130783705
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln) rs1299209150
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu) rs1299209150
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer) rs2130783742
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu) rs2130783774
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly)
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg) rs2130783868
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg) rs1465935790
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu) rs1804152812
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=) rs781052651
NM_152419.3(HGSNAT):c.111del (p.Pro38fs) rs1802484500
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=) rs987062801
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=) rs987062801
NM_152419.3(HGSNAT):c.1128+11A>G
NM_152419.3(HGSNAT):c.1128+13G>A
NM_152419.3(HGSNAT):c.1128+14T>A
NM_152419.3(HGSNAT):c.1128+16T>C
NM_152419.3(HGSNAT):c.1128+9C>A
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1129-10C>A
NM_152419.3(HGSNAT):c.1129-7C>A rs756262049
NM_152419.3(HGSNAT):c.1129-7dup
NM_152419.3(HGSNAT):c.1129-9C>T
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp) rs2130805062
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr)
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu) rs377486419
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=) rs761414980
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=) rs1563381683
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter) rs1804527418
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu) rs772905027
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=) rs1802484828
NM_152419.3(HGSNAT):c.118+10C>T rs768117824
NM_152419.3(HGSNAT):c.118+11A>C
NM_152419.3(HGSNAT):c.118+11A>G
NM_152419.3(HGSNAT):c.118+12C>G rs1408305187
NM_152419.3(HGSNAT):c.118+12C>T
NM_152419.3(HGSNAT):c.118+13C>A
NM_152419.3(HGSNAT):c.118+13C>G
NM_152419.3(HGSNAT):c.118+13C>T
NM_152419.3(HGSNAT):c.118+16C>G rs1457633859
NM_152419.3(HGSNAT):c.118+16C>T
NM_152419.3(HGSNAT):c.118+18A>C
NM_152419.3(HGSNAT):c.118+18A>G
NM_152419.3(HGSNAT):c.118+19C>T
NM_152419.3(HGSNAT):c.118+20C>G rs1802485942
NM_152419.3(HGSNAT):c.118+20C>T rs1802485942
NM_152419.3(HGSNAT):c.118+2T>C rs2130648749
NM_152419.3(HGSNAT):c.118+5G>A rs1174944521
NM_152419.3(HGSNAT):c.118+7G>A rs1298192155
NM_152419.3(HGSNAT):c.118+7G>C
NM_152419.3(HGSNAT):c.118+8C>G rs2130648798
NM_152419.3(HGSNAT):c.118+8C>T rs2130648798
NM_152419.3(HGSNAT):c.118+9A>C
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met) rs1335612982
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=) rs1218241477
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
NM_152419.3(HGSNAT):c.119-12A>G
NM_152419.3(HGSNAT):c.119-5A>G rs756141376
NM_152419.3(HGSNAT):c.119-9T>C rs1346109871
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=) rs1563381716
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=) rs2130805422
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=) rs1356136152
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala) rs201346206
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter) rs375616017
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
NM_152419.3(HGSNAT):c.1250+10C>A
NM_152419.3(HGSNAT):c.1250+10C>T rs2130805528
NM_152419.3(HGSNAT):c.1250+12C>T rs1804532623
NM_152419.3(HGSNAT):c.1250+14T>C
NM_152419.3(HGSNAT):c.1250+15G>C
NM_152419.3(HGSNAT):c.1250+16G>A
NM_152419.3(HGSNAT):c.1250+17G>T
NM_152419.3(HGSNAT):c.1250+18G>A
NM_152419.3(HGSNAT):c.1250+19dup
NM_152419.3(HGSNAT):c.1250+7G>C rs74795999
NM_152419.3(HGSNAT):c.1251-12del
NM_152419.3(HGSNAT):c.1251-14T>C
NM_152419.3(HGSNAT):c.1251-4C>G
NM_152419.3(HGSNAT):c.1251-6T>C rs2130807215
NM_152419.3(HGSNAT):c.1251-8C>A
NM_152419.3(HGSNAT):c.1251-9C>T
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His) rs1220333666
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp) rs2130807313
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=) rs1586751999
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=) rs2130807411
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=) rs776703067
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly) rs1804567846
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=) rs2130677148
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly) rs763301637
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=) rs2130807561
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs) rs1220771600
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del)
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=) rs947648591
NM_152419.3(HGSNAT):c.1377+11C>G
NM_152419.3(HGSNAT):c.1377+13C>A
NM_152419.3(HGSNAT):c.1377+13C>T
NM_152419.3(HGSNAT):c.1377+14G>C
NM_152419.3(HGSNAT):c.1377+15A>G
NM_152419.3(HGSNAT):c.1377+15A>T
NM_152419.3(HGSNAT):c.1377+7G>A rs1225445756
NM_152419.3(HGSNAT):c.1377+9G>C rs2130807739
NM_152419.3(HGSNAT):c.1378-13T>G rs2130810544
NM_152419.3(HGSNAT):c.1378-17T>C
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu) rs2130677199
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met) rs1414923802
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=) rs1337915028
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val) rs1804620596
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys) rs1182131036
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr)
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=) rs2130677225
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
NM_152419.3(HGSNAT):c.1464+10C>A
NM_152419.3(HGSNAT):c.1464+11A>C
NM_152419.3(HGSNAT):c.1464+11A>G rs573124827
NM_152419.3(HGSNAT):c.1464+14_1464+18del
NM_152419.3(HGSNAT):c.1464+17T>C
NM_152419.3(HGSNAT):c.1464+1del rs2130810933
NM_152419.3(HGSNAT):c.1464+9T>A rs1804623128
NM_152419.3(HGSNAT):c.1465-10T>C rs1804745819
NM_152419.3(HGSNAT):c.1465-15T>C
NM_152419.3(HGSNAT):c.1465-16G>A rs2130819513
NM_152419.3(HGSNAT):c.1465-17T>A rs764680385
NM_152419.3(HGSNAT):c.1465-18C>T
NM_152419.3(HGSNAT):c.1465-19del
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA
NM_152419.3(HGSNAT):c.1465-5T>C rs2130819538
NM_152419.3(HGSNAT):c.1465-6C>T
NM_152419.3(HGSNAT):c.1465-7C>T rs2130819532
NM_152419.3(HGSNAT):c.1465-9C>T rs2130819526
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=) rs2130819577
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=) rs1804746503
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=) rs751229126
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs) rs2130819661
NM_152419.3(HGSNAT):c.150del (p.Met51fs) rs1802737867
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=) rs1280407859
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
NM_152419.3(HGSNAT):c.1542+12G>A
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1543-10C>G
NM_152419.3(HGSNAT):c.1543-10C>T
NM_152419.3(HGSNAT):c.1543-11C>A rs1191230075
NM_152419.3(HGSNAT):c.1543-12T>G rs768881526
NM_152419.3(HGSNAT):c.1543-16C>T rs2130821050
NM_152419.3(HGSNAT):c.1543-19C>T
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG rs2130821034
NM_152419.3(HGSNAT):c.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1543-5T>G
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn) rs1802738082
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=) rs2130821179
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr) rs541318695
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile) rs2130821294
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs) rs2130821307
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg)
NM_152419.3(HGSNAT):c.1613+5G>A
NM_152419.3(HGSNAT):c.1613+8T>C rs2130821361
NM_152419.3(HGSNAT):c.1614-11A>G
NM_152419.3(HGSNAT):c.1614-13C>T rs2130821520
NM_152419.3(HGSNAT):c.1614-16C>T
NM_152419.3(HGSNAT):c.1614-18C>G
NM_152419.3(HGSNAT):c.1614-1G>C
NM_152419.3(HGSNAT):c.1614-20G>A
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1614-5C>T
NM_152419.3(HGSNAT):c.1614-6T>A
NM_152419.3(HGSNAT):c.1614-6T>C rs935366032
NM_152419.3(HGSNAT):c.1614-7C>T
NM_152419.3(HGSNAT):c.1614-9C>T rs2130821536
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) rs1372286994
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=) rs1310490354
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=) rs2130821674
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe) rs1804778997
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=) rs1586758163
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=) rs1586758179
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=) rs369681926
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=) rs2130821776
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=) rs2130821797
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn)
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter) rs1804781641
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=) rs1804781951
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=) rs1469124590
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=) rs1469124590
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys) rs1177263214
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser) rs754143732
NM_152419.3(HGSNAT):c.1726+10C>T
NM_152419.3(HGSNAT):c.1726+13C>T
NM_152419.3(HGSNAT):c.1726+14A>G
NM_152419.3(HGSNAT):c.1726+15A>C
NM_152419.3(HGSNAT):c.1726+15A>G
NM_152419.3(HGSNAT):c.1726+17C>T rs2130822028
NM_152419.3(HGSNAT):c.1726+18T>G
NM_152419.3(HGSNAT):c.1726+1G>A
NM_152419.3(HGSNAT):c.1726+22dup rs755106287
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg) rs1366558211
NM_152419.3(HGSNAT):c.1727-11C>G rs1370309387
NM_152419.3(HGSNAT):c.1727-11C>T
NM_152419.3(HGSNAT):c.1727-14TC[3] rs1804842925
NM_152419.3(HGSNAT):c.1727-15G>A rs2130825457
NM_152419.3(HGSNAT):c.1727-17A>T rs780686580
NM_152419.3(HGSNAT):c.1727-19G>A rs369322408
NM_152419.3(HGSNAT):c.1727-19G>C rs369322408
NM_152419.3(HGSNAT):c.1727-20T>C
NM_152419.3(HGSNAT):c.1727-3A>C
NM_152419.3(HGSNAT):c.1727-4dup
NM_152419.3(HGSNAT):c.1727-5T>A
NM_152419.3(HGSNAT):c.1727-9C>T
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met) rs749911696
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg) rs376476836
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=) rs2130825582
NM_152419.3(HGSNAT):c.1758C>T (p.His586=) rs1420418918
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=) rs765645520
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr) rs1804845888
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter) rs750824770
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly)
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro) rs928930218
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=) rs752160921
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
NM_152419.3(HGSNAT):c.1824C>T (p.His608=) rs2130825787
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=) rs2130677470
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=) rs374563604
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=) rs768575788
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met) rs1413168448
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val) rs2130825945
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=) rs1239460572
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=) rs946476629
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg) rs1804852352
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del) rs778163262
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr)
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr) rs2130826037
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=) rs1307220758
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer) rs1409093216
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=) rs2130677640
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=) rs1297145817
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp) rs1802741553
NM_152419.3(HGSNAT):c.234+10A>C
NM_152419.3(HGSNAT):c.234+18C>T rs1802743016
NM_152419.3(HGSNAT):c.234+20C>G
NM_152419.3(HGSNAT):c.234+20C>T
NM_152419.3(HGSNAT):c.234+5G>A
NM_152419.3(HGSNAT):c.234+8T>A rs1205007842
NM_152419.3(HGSNAT):c.235-13C>G rs2130713714
NM_152419.3(HGSNAT):c.235-16G>T
NM_152419.3(HGSNAT):c.235-18T>C
NM_152419.3(HGSNAT):c.235-19G>A
NM_152419.3(HGSNAT):c.235-19G>C
NM_152419.3(HGSNAT):c.235-4A>G rs2130713747
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg) rs1803164820
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=) rs774674978
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
NM_152419.3(HGSNAT):c.249T>C (p.Val83=) rs2130713807
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly) rs2130713856
NM_152419.3(HGSNAT):c.261T>C (p.Val87=) rs1461875540
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=) rs2130713884
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=) rs2130713942
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly) rs372055513
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=) rs766369405
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=) rs1802478612
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr) rs374071098
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg) rs374071098
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=) rs777514582
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=) rs2130714083
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=) rs2130714138
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=) rs772490276
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn) rs1586712145
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=) rs1586712156
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=) rs2130714335
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=) rs2130714421
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
NM_152419.3(HGSNAT):c.371+11G>C
NM_152419.3(HGSNAT):c.371+16G>C
NM_152419.3(HGSNAT):c.371+17T>C
NM_152419.3(HGSNAT):c.371+5G>T
NM_152419.3(HGSNAT):c.371+8C>T rs1803172839
NM_152419.3(HGSNAT):c.371+9C>T rs1180753142
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.372-11A>T
NM_152419.3(HGSNAT):c.372-12T>C
NM_152419.3(HGSNAT):c.372-13C>T
NM_152419.3(HGSNAT):c.372-4G>T
NM_152419.3(HGSNAT):c.372-8G>A rs2130715102
NM_152419.3(HGSNAT):c.372-9T>C
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=) rs2130715134
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter) rs1803180587
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=) rs2130647858
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser) rs1803180920
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu) rs932582298
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser) rs769984670
NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys) rs2130715230
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=) rs1803181529
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val)
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe) rs773170952
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=) rs1051098032
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=) rs1281457648
NM_152419.3(HGSNAT):c.417A>G (p.Val139=) rs2130715314
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val) rs2130647887
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
NM_152419.3(HGSNAT):c.429T>C (p.His143=) rs2130715366
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu) rs2130647901
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del) rs2130647831
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser) rs1803184135
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=) rs1351688097
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys) rs553837106
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=) rs1803185540
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe) rs2130715697
NM_152419.3(HGSNAT):c.493+14C>G
NM_152419.3(HGSNAT):c.493+14C>T
NM_152419.3(HGSNAT):c.493+16C>G
NM_152419.3(HGSNAT):c.493+1G>C
NM_152419.3(HGSNAT):c.493+4C>G
NM_152419.3(HGSNAT):c.494-12C>T rs776299194
NM_152419.3(HGSNAT):c.494-13T>C
NM_152419.3(HGSNAT):c.494-15C>A rs1033103288
NM_152419.3(HGSNAT):c.494-16T>C
NM_152419.3(HGSNAT):c.494-1G>A
NM_152419.3(HGSNAT):c.494-2A>G
NM_152419.3(HGSNAT):c.494-4C>A rs2130721854
NM_152419.3(HGSNAT):c.494-8T>A
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=) rs2130721874
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr) rs750046807
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.51G>A (p.Val17=) rs1229423417
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met) rs1195940980
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=) rs781682753
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
NM_152419.3(HGSNAT):c.563+18G>A
NM_152419.3(HGSNAT):c.563+18G>C
NM_152419.3(HGSNAT):c.563+1G>C
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.563+8A>G rs2130722155
NM_152419.3(HGSNAT):c.563+9T>C
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn) rs2130722111
NM_152419.3(HGSNAT):c.564-10T>A rs2130741799
NM_152419.3(HGSNAT):c.564-1G>A
NM_152419.3(HGSNAT):c.564-4T>G rs2130741836
NM_152419.3(HGSNAT):c.564-4dup rs748560542
NM_152419.3(HGSNAT):c.564-8A>G rs1803532488
NM_152419.3(HGSNAT):c.564-8_564-5del
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=) rs2130741857
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=) rs2130741996
NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys) rs1385208624
NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn) rs1454265686
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
NM_152419.3(HGSNAT):c.620G>A (p.Arg207His)
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
NM_152419.3(HGSNAT):c.633+10G>A
NM_152419.3(HGSNAT):c.633+13A>G
NM_152419.3(HGSNAT):c.633+17A>G
NM_152419.3(HGSNAT):c.633+19A>G
NM_152419.3(HGSNAT):c.633+9T>C rs2130742161
NM_152419.3(HGSNAT):c.634-16C>T
NM_152419.3(HGSNAT):c.634-18C>G
NM_152419.3(HGSNAT):c.634-20T>G
NM_152419.3(HGSNAT):c.634-2A>G
NM_152419.3(HGSNAT):c.634-8T>A rs2130745626
NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=) rs1321515975
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=) rs2130745723
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=) rs541981232
NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His) rs1025285008
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=) rs2130648121
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=) rs757652049
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=) rs757652049
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=) rs951025520
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) rs1803593441
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=) rs1198688385
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs) rs2130745878
NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr) rs1803593895
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=) rs756091468
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=) rs1563349632
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=) rs535427008
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys) rs1586725294
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=) rs1051692363
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=) rs2130746047
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=) rs2130746108
NM_152419.3(HGSNAT):c.719del (p.Leu240fs) rs2130746148
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=) rs2130746165
NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn) rs2130746199
NM_152419.3(HGSNAT):c.727G>A (p.Val243Met)
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=) rs2130648208
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.743+10C>T rs2130746341
NM_152419.3(HGSNAT):c.743+13C>G
NM_152419.3(HGSNAT):c.743+17G>A rs1245020116
NM_152419.3(HGSNAT):c.743+4T>C rs765682296
NM_152419.3(HGSNAT):c.743+7G>A rs750677179
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala) rs1324238938
NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val) rs1324238938
NM_152419.3(HGSNAT):c.744-10C>A rs1803651376
NM_152419.3(HGSNAT):c.744-15G>T
NM_152419.3(HGSNAT):c.744-16T>C
NM_152419.3(HGSNAT):c.744-18T>A
NM_152419.3(HGSNAT):c.744-19C>G
NM_152419.3(HGSNAT):c.744-20T>G
NM_152419.3(HGSNAT):c.744-2A>C
NM_152419.3(HGSNAT):c.744-4C>G rs1312600583
NM_152419.3(HGSNAT):c.744-5_744-3del rs776162529
NM_152419.3(HGSNAT):c.744-6T>C
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg) rs2130648242
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del) rs2130750552
NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val) rs2130750568
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=) rs1188844284
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg) rs2130750679
NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter) rs2130750698
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=) rs1260742657
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
NM_152419.3(HGSNAT):c.820+19G>C
NM_152419.3(HGSNAT):c.820+1G>A
NM_152419.3(HGSNAT):c.820+6A>G
NM_152419.3(HGSNAT):c.820+7T>C
NM_152419.3(HGSNAT):c.821-14T>C
NM_152419.3(HGSNAT):c.821-20G>T
NM_152419.3(HGSNAT):c.821-26G>A
NM_152419.3(HGSNAT):c.821-27T>G rs999398262
NM_152419.3(HGSNAT):c.821-30T>C rs2130754670
NM_152419.3(HGSNAT):c.821-31C>T
NM_152419.3(HGSNAT):c.821-4G>T rs2130754740
NM_152419.3(HGSNAT):c.821-5del
NM_152419.3(HGSNAT):c.821-9G>A rs576856787
NM_152419.3(HGSNAT):c.821-9G>C
NM_152419.3(HGSNAT):c.821-9G>T rs576856787
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro) rs1802482509
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_152419.3(HGSNAT):c.851+10C>G rs778394235
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.851+11G>A
NM_152419.3(HGSNAT):c.851+11G>C
NM_152419.3(HGSNAT):c.851+14C>G rs2130754963
NM_152419.3(HGSNAT):c.851+16G>C
NM_152419.3(HGSNAT):c.851+16G>T rs1049678342
NM_152419.3(HGSNAT):c.851+17C>T
NM_152419.3(HGSNAT):c.851+19C>A
NM_152419.3(HGSNAT):c.851+19C>G
NM_152419.3(HGSNAT):c.851+19C>T rs1803714783
NM_152419.3(HGSNAT):c.852-13A>G rs2130766120
NM_152419.3(HGSNAT):c.852-16A>G
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>G
NM_152419.3(HGSNAT):c.852-7T>G rs2130766132
NM_152419.3(HGSNAT):c.852-8C>G
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs) rs2130648345
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2130766198
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=) rs1187482453
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs) rs2130648385
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=) rs771023375
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=) rs1458945407
NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=) rs2130766469
NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu) rs753315223
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr) rs906833070
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val) rs1802483575
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=) rs1803883258
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)

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