ClinVar Miner

List of variants studied for Niemann-Pick disease, type B; Niemann-Pick disease, type A by Invitae

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ClinVar version:
Total variants: 747
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu) rs767539123 0.01904
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000543.5(SMPD1):c.319-17C>A rs148370501 0.00048
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_000543.5(SMPD1):c.1091+10G>A rs148067213 0.00033
NM_000543.5(SMPD1):c.338G>A (p.Arg113His) rs149770879 0.00029
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=) rs774163596 0.00023
NM_000543.5(SMPD1):c.657G>A (p.Thr219=) rs202032347 0.00017
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) rs201367689 0.00013
NM_000543.5(SMPD1):c.336T>C (p.Ala112=) rs543145636 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=) rs142147633 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.897C>T (p.Thr299=) rs536760557 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000543.5(SMPD1):c.1383T>C (p.His461=) rs570284983 0.00009
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln) rs767722360 0.00008
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000543.5(SMPD1):c.900C>T (p.Thr300=) rs368353322 0.00008
NM_000543.5(SMPD1):c.174G>A (p.Pro58=) rs368143181 0.00007
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_000543.5(SMPD1):c.1125C>T (p.Pro375=) rs376871416 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.1497G>A (p.Val499=) rs749498245 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg) rs368200803 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_000543.5(SMPD1):c.1091+13C>T rs371340833 0.00005
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.618C>T (p.Leu206=) rs776180872 0.00005
NM_000543.5(SMPD1):c.894G>C (p.Leu298=) rs371688255 0.00005
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=) rs755182589 0.00004
NM_000543.5(SMPD1):c.1233G>A (p.Glu411=) rs34555120 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00004
NM_000543.5(SMPD1):c.319-10C>T rs749287829 0.00004
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.552G>A (p.Pro184=) rs768265842 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=) rs138588535 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.843C>T (p.Ile281=) rs1457587365 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1203C>T (p.Pro401=) rs376494095 0.00002
NM_000543.5(SMPD1):c.1212G>A (p.Gln404=) rs771755385 0.00002
NM_000543.5(SMPD1):c.1302G>A (p.Leu434=) rs754326223 0.00002
NM_000543.5(SMPD1):c.1340+8G>A rs373742012 0.00002
NM_000543.5(SMPD1):c.1386G>A (p.Val462=) rs763521056 0.00002
NM_000543.5(SMPD1):c.138G>T (p.Ala46=) rs200763765 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.1521C>T (p.Ser507=) rs149423664 0.00002
NM_000543.5(SMPD1):c.1794G>A (p.Gln598=) rs761689892 0.00002
NM_000543.5(SMPD1):c.198C>T (p.Pro66=) rs770037147 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000543.5(SMPD1):c.318+10G>C rs367666720 0.00002
NM_000543.5(SMPD1):c.627G>C (p.Leu209=) rs200443318 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.766C>T (p.Leu256=) rs1218708186 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 0.00002
NM_000543.5(SMPD1):c.966A>G (p.Glu322=) rs746711794 0.00002
NM_000543.5(SMPD1):c.1017C>T (p.Ser339=) rs1040248510 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1078C>T (p.Leu360=) rs772788648 0.00001
NM_000543.5(SMPD1):c.1128T>C (p.Gly376=) rs745317640 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1194C>A (p.Ser398=) rs967970847 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1263+10A>G rs1237766501 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.126G>A (p.Ala42=) rs571806745 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=) rs554647710 0.00001
NM_000543.5(SMPD1):c.1476C>G (p.Gly492=) rs1262156065 0.00001
NM_000543.5(SMPD1):c.1494T>G (p.Arg498=) rs1382113966 0.00001
NM_000543.5(SMPD1):c.1527C>T (p.Ser509=) rs944330326 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=) rs778746534 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1653G>A (p.Leu551=) rs377371222 0.00001
NM_000543.5(SMPD1):c.1659C>T (p.Thr553=) rs746058509 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.1725C>T (p.Leu575=) rs780285591 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1746C>T (p.Pro582=) rs781756741 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.1782T>C (p.Thr594=) rs200974033 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.1836G>T (p.Leu612=) rs1413475417 0.00001
NM_000543.5(SMPD1):c.1885C>T (p.Leu629=) rs776370511 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.229G>A (p.Val77Met) rs560531338 0.00001
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln) rs201647015 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000543.5(SMPD1):c.319-7A>T rs757091200 0.00001
NM_000543.5(SMPD1):c.339C>T (p.Arg113=) rs923028036 0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=) rs371141815 0.00001
NM_000543.5(SMPD1):c.393C>T (p.Ala131=) rs778655099 0.00001
NM_000543.5(SMPD1):c.465A>G (p.Pro155=) rs1163540840 0.00001
NM_000543.5(SMPD1):c.480C>A (p.Gly160=) rs765073144 0.00001
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.561C>T (p.Pro187=) rs1020434151 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.591T>C (p.Gly197=) rs1328127205 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.606C>T (p.Arg202=) rs779618003 0.00001
NM_000543.5(SMPD1):c.621T>C (p.Thr207=) rs1198832119 0.00001
NM_000543.5(SMPD1):c.675C>T (p.Asp225=) rs1030101180 0.00001
NM_000543.5(SMPD1):c.678A>G (p.Pro226=) rs1261935541 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.696T>C (p.Gly232=) rs780602613 0.00001
NM_000543.5(SMPD1):c.711C>T (p.Pro237=) rs1847926093 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.720G>T (p.Arg240=) rs879868810 0.00001
NM_000543.5(SMPD1):c.735C>T (p.Tyr245=) rs760865854 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.753G>A (p.Lys251=) rs374458858 0.00001
NM_000543.5(SMPD1):c.759C>T (p.Asp253=) rs752000778 0.00001
NM_000543.5(SMPD1):c.75C>T (p.Ala25=) rs1312090680 0.00001
NM_000543.5(SMPD1):c.780G>A (p.Glu260=) rs770523185 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000543.5(SMPD1):c.84C>T (p.Pro28=) rs577769499 0.00001
NM_000543.5(SMPD1):c.852T>C (p.His284=) rs1847936690 0.00001
NM_000543.5(SMPD1):c.873T>C (p.Arg291=) rs745502097 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000543.5(SMPD1):c.90C>A (p.Leu30=) rs748793138 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NM_000543.5(SMPD1):c.984C>T (p.Ser328=) rs781339776 0.00001
NM_000543.5(SMPD1):c.987C>T (p.Phe329=) rs572772760 0.00001
NM_000543.5(SMPD1):c.999C>T (p.Phe333=) rs774790917 0.00001
NC_000011.10:g.6390221_6390884del
NC_000011.9:g.(?_6404342)_(6413015_?)del
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
NM_000543.5(SMPD1):c.1020C>T (p.Ser340=) rs1590740483
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter) rs2134013121
NM_000543.5(SMPD1):c.1038G>A (p.Ala346=) rs781107025
NM_000543.5(SMPD1):c.1038G>T (p.Ala346=) rs781107025
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=) rs555187617
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.1059C>A (p.Pro353=) rs1444697663
NM_000543.5(SMPD1):c.105G>C (p.Leu35=) rs2134005231
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.1071C>G (p.Ala357=)
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_108delinsCT (p.Val36Ala) rs2134005319
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.107_130del (p.Val36_Leu43del) rs550067660
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.1083C>A (p.Arg361=)
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.108G>T (p.Val36=)
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.1091+13C>G
NM_000543.5(SMPD1):c.1091+14G>A
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1091+20A>T
NM_000543.5(SMPD1):c.1091+8T>G rs1564924727
NM_000543.5(SMPD1):c.1091+8del rs1475406727
NM_000543.5(SMPD1):c.1091+9C>G rs143612450
NM_000543.5(SMPD1):c.1092-10_1092-3dup
NM_000543.5(SMPD1):c.1092-14T>A
NM_000543.5(SMPD1):c.1092-18_1092-17del
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1092-7G>A rs1848012858
NM_000543.5(SMPD1):c.1092-9T>C
NM_000543.5(SMPD1):c.1098G>A (p.Gly366=)
NM_000543.5(SMPD1):c.1098G>C (p.Gly366=)
NM_000543.5(SMPD1):c.1101G>A (p.Gly367=)
NM_000543.5(SMPD1):c.1101G>C (p.Gly367=) rs1302267359
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) rs1590743683
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) rs1847863441
NM_000543.5(SMPD1):c.1110T>C (p.Ala370=) rs2134017024
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) rs1848015403
NM_000543.5(SMPD1):c.1122C>T (p.Tyr374=) rs1848015403
NM_000543.5(SMPD1):c.1125C>G (p.Pro375=)
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1137C>T (p.Leu379=) rs1848016999
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1149T>C (p.Asn383=)
NM_000543.5(SMPD1):c.114G>T (p.Ala38=) rs1195507316
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.115C>T (p.Leu39=) rs1847864154
NM_000543.5(SMPD1):c.1167T>C (p.Arg389=) rs1162794351
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
NM_000543.5(SMPD1):c.1182C>A (p.Leu394=) rs2134017489
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=) rs766418804
NM_000543.5(SMPD1):c.1194C>T (p.Ser398=) rs967970847
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1203C>G (p.Pro401=)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1206A>G (p.Ala402=) rs2134017637
NM_000543.5(SMPD1):c.120G>T (p.Ala40=)
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter) rs2134017711
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
NM_000543.5(SMPD1):c.1224G>A (p.Leu408=) rs1448718304
NM_000543.5(SMPD1):c.1227G>A (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1227G>C (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1227G>T (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1242T>A (p.Ala414=)
NM_000543.5(SMPD1):c.1251T>C (p.Asp417=) rs2134017998
NM_000543.5(SMPD1):c.1254A>G (p.Arg418=) rs2134018038
NM_000543.5(SMPD1):c.1257A>C (p.Gly419=) rs2134018068
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1263+9C>T
NM_000543.5(SMPD1):c.1264-10T>C rs2134019281
NM_000543.5(SMPD1):c.1264-14del
NM_000543.5(SMPD1):c.1264-19C>G
NM_000543.5(SMPD1):c.1264-1G>A rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1264-4C>T
NM_000543.5(SMPD1):c.1264-5A>G rs538875655
NM_000543.5(SMPD1):c.1264-7del rs2134019299
NM_000543.5(SMPD1):c.1264-9C>T
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.126G>T (p.Ala42=)
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
NM_000543.5(SMPD1):c.1290A>G (p.Pro430=)
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) rs1848043657
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1323T>C (p.Tyr441=) rs2134019686
NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1340+11G>T
NM_000543.5(SMPD1):c.1340+17G>C
NM_000543.5(SMPD1):c.1340+18G>A
NM_000543.5(SMPD1):c.1340+20G>A
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del
NM_000543.5(SMPD1):c.1340+9G>C rs2134019834
NM_000543.5(SMPD1):c.1341-12C>T
NM_000543.5(SMPD1):c.1341-13A>G
NM_000543.5(SMPD1):c.1341-15del
NM_000543.5(SMPD1):c.1341-19T>C
NM_000543.5(SMPD1):c.1341-20A>G
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1341-6G>T rs2134020897
NM_000543.5(SMPD1):c.1341-7T>C
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
NM_000543.5(SMPD1):c.135G>A (p.Leu45=)
NM_000543.5(SMPD1):c.135G>T (p.Leu45=) rs150867628
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) rs2134021058
NM_000543.5(SMPD1):c.1371T>C (p.Phe457=) rs765658453
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1386G>C (p.Val462=) rs763521056
NM_000543.5(SMPD1):c.138G>A (p.Ala46=) rs200763765
NM_000543.5(SMPD1):c.138G>C (p.Ala46=) rs200763765
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1407T>C (p.Tyr469=) rs2134021313
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1422G>A (p.Leu474=)
NM_000543.5(SMPD1):c.1426C>A (p.Arg476=) rs182812968
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1440A>C (p.Val480=)
NM_000543.5(SMPD1):c.1443C>T (p.Ala481=)
NM_000543.5(SMPD1):c.1447C>T (p.Leu483=)
NM_000543.5(SMPD1):c.1449G>A (p.Leu483=)
NM_000543.5(SMPD1):c.144T>G (p.Ala48=)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1464T>A (p.Thr488=) rs2134021666
NM_000543.5(SMPD1):c.1467C>G (p.Thr489=)
NM_000543.5(SMPD1):c.1467C>T (p.Thr489=) rs1848065214
NM_000543.5(SMPD1):c.1470C>T (p.Tyr490=) rs1848065468
NM_000543.5(SMPD1):c.1473C>A (p.Ile491=)
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.147G>A (p.Leu49=)
NM_000543.5(SMPD1):c.1486+10G>A rs2134021948
NM_000543.5(SMPD1):c.1486+11dup
NM_000543.5(SMPD1):c.1486+17G>T
NM_000543.5(SMPD1):c.1486+18G>C
NM_000543.5(SMPD1):c.1486+19A>G
NM_000543.5(SMPD1):c.1486+1G>T
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1486+7G>A rs748435634
NM_000543.5(SMPD1):c.1487-11C>T
NM_000543.5(SMPD1):c.1487-13C>T
NM_000543.5(SMPD1):c.1487-14C>G
NM_000543.5(SMPD1):c.1487-15C>T
NM_000543.5(SMPD1):c.1487-19C>A
NM_000543.5(SMPD1):c.1487-19C>T
NM_000543.5(SMPD1):c.1487-4_1499del
NM_000543.5(SMPD1):c.1487-5T>C
NM_000543.5(SMPD1):c.1488T>C (p.Gly496=)
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1509T>C (p.Asp503=)
NM_000543.5(SMPD1):c.150T>C (p.Ser50=) rs1847868322
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1518C>T (p.Tyr506=)
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1521C>G (p.Ser507=) rs149423664
NM_000543.5(SMPD1):c.1524G>A (p.Gly508=) rs1312013224
NM_000543.5(SMPD1):c.1533C>T (p.His511=) rs540422105
NM_000543.5(SMPD1):c.1539C>T (p.Val513=) rs368806984
NM_000543.5(SMPD1):c.153C>T (p.Asp51=)
NM_000543.5(SMPD1):c.1542G>C (p.Leu514=)
NM_000543.5(SMPD1):c.1545C>T (p.Asp515=) rs2134023030
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
NM_000543.5(SMPD1):c.1548T>C (p.His516=) rs1590747902
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1554C>T (p.Thr518=)
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=) rs756192072
NM_000543.5(SMPD1):c.1563G>A (p.Leu521=) rs749496647
NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)
NM_000543.5(SMPD1):c.1569G>C (p.Leu523=) rs1848085572
NM_000543.5(SMPD1):c.156T>C (p.Ser52=)
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
NM_000543.5(SMPD1):c.1572C>G (p.Thr524=) rs376815723
NM_000543.5(SMPD1):c.1572C>T (p.Thr524=)
NM_000543.5(SMPD1):c.1576del (p.Ala526fs) rs2134023240
NM_000543.5(SMPD1):c.1581C>T (p.Asn527=)
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) rs1848086376
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=) rs886048447
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=) rs1181161932
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.162T>C (p.Val54=)
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1635T>C (p.Tyr545=) rs1403217094
NM_000543.5(SMPD1):c.1638G>A (p.Gly546=)
NM_000543.5(SMPD1):c.1641G>A (p.Leu547=)
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs) rs2134023663
NM_000543.5(SMPD1):c.1644C>A (p.Pro548=) rs2134023668
NM_000543.5(SMPD1):c.1644C>T (p.Pro548=) rs2134023668
NM_000543.5(SMPD1):c.1647C>T (p.Asn549=) rs1380885433
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1662C>T (p.Ala554=) rs2134023747
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1672C>T (p.Leu558=) rs772613617
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.1674G>A (p.Leu558=)
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.1683C>T (p.Arg561=)
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1710G>A (p.Gln570=) rs767055403
NM_000543.5(SMPD1):c.1713C>T (p.Thr571=) rs1590748569
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.171T>C (p.Ala57=)
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1734G>A (p.Lys578=)
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
NM_000543.5(SMPD1):c.1740C>T (p.His580=)
NM_000543.5(SMPD1):c.174G>C (p.Pro58=)
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1761C>T (p.Gly587=)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1770C>T (p.Cys590=) rs1590748718
NM_000543.5(SMPD1):c.1773T>A (p.Arg591=)
NM_000543.5(SMPD1):c.1776G>A (p.Leu592=)
NM_000543.5(SMPD1):c.1776G>T (p.Leu592=) rs1848098515
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785T>G (p.Leu595=) rs2134024361
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1791C>T (p.Ala597=) rs2134024385
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1806T>C (p.Arg602=) rs1320920094
NM_000543.5(SMPD1):c.1809T>A (p.Ala603=)
NM_000543.5(SMPD1):c.1815C>T (p.Ser605=) rs2134024538
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=) rs1564928040
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.1830C>A (p.Arg610=)
NM_000543.5(SMPD1):c.1854C>T (p.Leu618=)
NM_000543.5(SMPD1):c.186C>T (p.His62=) rs1235402970
NM_000543.5(SMPD1):c.1881G>A (p.Arg627=)
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.1887G>A (p.Leu629=)
NM_000543.5(SMPD1):c.1890T>C (p.Phe630=) rs1848105786
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.193dup (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs) rs2134006350
NM_000543.5(SMPD1):c.210T>C (p.Pro70=)
NM_000543.5(SMPD1):c.213C>T (p.Ala71=)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.234C>G (p.Pro78=)
NM_000543.5(SMPD1):c.248del (p.Val83fs)
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
NM_000543.5(SMPD1):c.255G>A (p.Gly85=) rs1554933929
NM_000543.5(SMPD1):c.255G>C (p.Gly85=) rs1554933929
NM_000543.5(SMPD1):c.273C>T (p.Cys91=) rs1847877445
NM_000543.5(SMPD1):c.276A>G (p.Pro92=) rs2134006684
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.285A>G (p.Lys95=)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.297C>T (p.Thr99=) rs146630228
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
NM_000543.5(SMPD1):c.309C>G (p.Leu103=) rs1847879646
NM_000543.5(SMPD1):c.309C>T (p.Leu103=)
NM_000543.5(SMPD1):c.30G>A (p.Gln10=) rs1847855057
NM_000543.5(SMPD1):c.312G>A (p.Gly104=) rs757958025
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.315G>A (p.Leu105=) rs2134006862
NM_000543.5(SMPD1):c.315G>C (p.Leu105=) rs2134006862
NM_000543.5(SMPD1):c.318+13G>C
NM_000543.5(SMPD1):c.318+20C>T
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.318+7A>C rs747913628
NM_000543.5(SMPD1):c.318+7A>G rs747913628
NM_000543.5(SMPD1):c.318+7A>T rs747913628
NM_000543.5(SMPD1):c.319-12C>T
NM_000543.5(SMPD1):c.319-13C>G
NM_000543.5(SMPD1):c.319-16G>A
NM_000543.5(SMPD1):c.319-16dup
NM_000543.5(SMPD1):c.319-17C>G
NM_000543.5(SMPD1):c.319-17C>T
NM_000543.5(SMPD1):c.319-20A>G
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.319-7A>G rs757091200
NM_000543.5(SMPD1):c.319-9C>T
NM_000543.5(SMPD1):c.333G>A (p.Val111=) rs2134008523
NM_000543.5(SMPD1):c.339C>A (p.Arg113=)
NM_000543.5(SMPD1):c.339C>G (p.Arg113=)
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
NM_000543.5(SMPD1):c.348C>A (p.Ser116=)
NM_000543.5(SMPD1):c.348C>G (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.348C>T (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.354C>T (p.Ala118=) rs2134008712
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
NM_000543.5(SMPD1):c.363G>C (p.Leu121=) rs2134008743
NM_000543.5(SMPD1):c.363G>T (p.Leu121=)
NM_000543.5(SMPD1):c.36C>T (p.Cys12=) rs767287886
NM_000543.5(SMPD1):c.375G>A (p.Leu125=)
NM_000543.5(SMPD1):c.378G>A (p.Lys126=)
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.402A>G (p.Gln134=)
NM_000543.5(SMPD1):c.405C>T (p.Ser135=) rs2134009009
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.420T>C (p.Phe140=)
NM_000543.5(SMPD1):c.429C>T (p.Asp143=) rs2134009167
NM_000543.5(SMPD1):c.435G>A (p.Val145=) rs1847906589
NM_000543.5(SMPD1):c.435G>T (p.Val145=)
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.441G>T (p.Val147=)
NM_000543.5(SMPD1):c.456G>A (p.Val152=) rs2134009327
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs) rs2134009391
NM_000543.5(SMPD1):c.481C>T (p.Leu161=) rs1283765997
NM_000543.5(SMPD1):c.486C>A (p.Leu162=)
NM_000543.5(SMPD1):c.486C>G (p.Leu162=) rs758313663
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.516T>C (p.Ile172=)
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.519C>T (p.Phe173=)
NM_000543.5(SMPD1):c.522A>C (p.Ser174=) rs2134009687
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.531C>T (p.Asn177=)
NM_000543.5(SMPD1):c.534C>A (p.Ile178=) rs142147633
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.564C>G (p.Pro188=)
NM_000543.5(SMPD1):c.564C>T (p.Pro188=) rs764993348
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.564dup (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.572del (p.Pro191fs) rs1590738506
NM_000543.5(SMPD1):c.573T>C (p.Pro191=) rs751653824
NM_000543.5(SMPD1):c.576C>T (p.Ser192=) rs1448298550
NM_000543.5(SMPD1):c.579C>T (p.Pro193=)
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs) rs2134010245
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.585C>T (p.Ala195=) rs2134010416
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.594C>G (p.Ala198=)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.603C>T (p.Ser201=) rs2134010544
NM_000543.5(SMPD1):c.609C>T (p.Ile203=) rs746370637
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.612C>G (p.Leu204=)
NM_000543.5(SMPD1):c.612C>T (p.Leu204=)
NM_000543.5(SMPD1):c.615C>T (p.Phe205=) rs2134010647
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.625C>T (p.Leu209=)
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.627G>A (p.Leu209=) rs200443318
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.642C>T (p.Asp214=)
NM_000543.5(SMPD1):c.654C>T (p.Gly218=)
NM_000543.5(SMPD1):c.660C>T (p.Asp220=)
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.669T>C (p.Cys223=)
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.681G>C (p.Leu227=) rs1208751863
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.690C>T (p.Arg230=) rs1590739083
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.699T>G (p.Ser233=)
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) rs1847925196
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
NM_000543.5(SMPD1):c.702C>A (p.Gly234=)
NM_000543.5(SMPD1):c.708G>T (p.Pro236=)
NM_000543.5(SMPD1):c.723A>G (p.Pro241=) rs1378142751
NM_000543.5(SMPD1):c.726T>C (p.Gly242=)
NM_000543.5(SMPD1):c.72C>A (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.72C>T (p.Thr24=) rs886043870
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln) rs200763423
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.747C>T (p.Tyr249=) rs765716943
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.765C>G (p.Pro255=)
NM_000543.5(SMPD1):c.765C>T (p.Pro255=)
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.774C>T (p.Thr258=) rs2134011569
NM_000543.5(SMPD1):c.777G>A (p.Leu259=) rs2134011575
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.786G>T (p.Leu262=)
NM_000543.5(SMPD1):c.787T>C (p.Leu263=)
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.798G>A (p.Leu266=) rs2134011674
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
NM_000543.5(SMPD1):c.820del (p.Met274fs) rs2134011809
NM_000543.5(SMPD1):c.825G>A (p.Val275=) rs1847934481
NM_000543.5(SMPD1):c.828C>T (p.Tyr276=) rs2134011863
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.834A>G (p.Thr278=)
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.840C>T (p.Asp280=)
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.846C>T (p.Pro282=) rs990064419
NM_000543.5(SMPD1):c.849A>G (p.Ala283=)
NM_000543.5(SMPD1):c.84C>G (p.Pro28=) rs577769499
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.858C>T (p.Val286=)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.891C>G (p.Ala297=) rs2134012225
NM_000543.5(SMPD1):c.891C>T (p.Ala297=) rs2134012225
NM_000543.5(SMPD1):c.90C>T (p.Leu30=) rs748793138
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val) rs2134012389
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe) rs2134012389
NM_000543.5(SMPD1):c.918G>A (p.Arg306=)
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
NM_000543.5(SMPD1):c.925C>T (p.Leu309=)
NM_000543.5(SMPD1):c.939A>G (p.Pro313=) rs1847944418
NM_000543.5(SMPD1):c.93T>C (p.Leu31=) rs2134005000
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
NM_000543.5(SMPD1):c.948T>C (p.Pro316=) rs764694813
NM_000543.5(SMPD1):c.948T>G (p.Pro316=) rs764694813
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.957T>A (p.Gly319=) rs2134012714
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.960C>T (p.Asn320=) rs2134012736
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.963T>C (p.His321=) rs2134012764
NM_000543.5(SMPD1):c.969C>T (p.Ser323=) rs2134012783
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480
NM_000543.5(SMPD1):c.993C>G (p.Pro331=) rs2134012879
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000543.5(SMPD1):c.996C>A (p.Pro332=)
NM_000543.5(SMPD1):c.996C>G (p.Pro332=) rs1425916722
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
NM_000543.5(SMPD1):c.9C>T (p.Arg3=) rs2134004441

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