NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
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.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
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.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
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.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
|
rs759950370
|
0.00001
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
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.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)
|
rs1402734026
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
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.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.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000543.5(SMPD1):c.319-1G>A
|
rs1352986086
|
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.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
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.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_000543.4:c.777_778ins8
|
|
|
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.1076C>T (p.Ala359Val)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)
|
rs1242180535
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
|
|
|
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)
|
rs1848014133
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)
|
rs2134017039
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)
|
rs369088417
|
|
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.114del (p.Leu39fs)
|
rs886043098
|
|
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
|
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
|
|
|
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)
|
rs1162794351
|
|
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
|
|
|
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
|
rs34555120
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
NM_000543.5(SMPD1):c.1264-1G>A
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-2A>G
|
rs774309925
|
|
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.1280_1286del (p.His427fs)
|
|
|
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.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
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.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
NM_000543.5(SMPD1):c.1341-10_1429dup
|
rs1554935254
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
|
|
|
NM_000543.5(SMPD1):c.1373del (p.Gly458fs)
|
rs1554935273
|
|
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)
|
rs1848060631
|
|
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)
|
rs1848060729
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1379del (p.Thr460fs)
|
rs1554935285
|
|
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>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)
|
rs182812968
|
|
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr)
|
rs2134021440
|
|
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)
|
rs753508874
|
|
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
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.1481A>T (p.Asn494Ile)
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
NM_000543.5(SMPD1):c.1487-1G>A
|
rs2134022652
|
|
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)
|
rs1848079553
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)
|
rs1554935439
|
|
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_1498del (p.Tyr500fs)
|
rs1057517200
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
|
rs764772735
|
|
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
|
|
|
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
|
|
|
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
|
|
|
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
|
rs752679988
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)
|
rs1554935555
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)
|
rs756031857
|
|
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)
|
rs2134023610
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)
|
rs1057516722
|
|
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
|
|
|
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
|
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)
|
rs2134024349
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)
|
rs1848099174
|
|
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
|
rs1848099900
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
|
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)
|
rs1847878243
|
|
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
|
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
|
rs1057517086
|
|
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
|
|
|
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
|
|
|
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
|
|
|
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
|
|
|
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
|
|
|
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)
|
rs1369175943
|
|
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)
|
rs2134009384
|
|
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)
|
rs1554934210
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
|
|
|
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)
|
rs2134010621
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)
|
rs1847921260
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
|
|
|
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
|
rs772889728
|
|
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
|
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
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NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
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rs1847925080
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NM_000543.5(SMPD1):c.722del (p.Pro241fs)
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NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)
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rs1057435197
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NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
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rs120074122
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NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
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NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)
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rs2134011288
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NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
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rs1590739350
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NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
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NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)
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rs1423504237
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NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)
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rs1847929817
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NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
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rs1018556947
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NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)
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rs1554934406
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NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
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rs794727252
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NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
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rs1847932355
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NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
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rs1847934777
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NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)
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rs2134011919
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NM_000543.5(SMPD1):c.867del (p.Thr290fs)
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NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
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rs1847939431
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NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
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rs1847940504
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NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)
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rs2134012389
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NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)
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rs2134012389
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NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)
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rs2134012580
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NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
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NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)
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rs757934797
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NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
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rs757934797
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NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
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rs1554933780
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NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)
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rs2134012749
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NM_000543.5(SMPD1):c.963del (p.His321fs)
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NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
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rs786204506
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NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
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NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
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NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
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NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)
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rs1057517345
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NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
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NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
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rs202081954
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NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
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rs202081954
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