ClinVar Miner

List of variants in gene MPL studied for myeloproliferative neoplasm

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 669
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) rs770428240 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) rs201385967 0.00015
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.1803C>T (p.Thr601=) rs140794721 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.1542G>A (p.Arg514=) rs367960803 0.00006
NM_005373.3(MPL):c.1573A>C (p.Arg525=) rs143100182 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.1665A>G (p.Thr555=) rs981464721 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.22A>G (p.Met8Val) rs572208458 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005373.3(MPL):c.978C>T (p.Asp326=) rs202119310 0.00003
NM_005373.3(MPL):c.1014G>A (p.Glu338=) rs767497390 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00002
NM_005373.3(MPL):c.145A>G (p.Thr49Ala) rs764333753 0.00002
NM_005373.3(MPL):c.1632G>A (p.Arg544=) rs780927987 0.00002
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) rs971458513 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.292C>G (p.Gln98Glu) rs752682807 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1140C>G (p.Gly380=) rs745697567 0.00001
NM_005373.3(MPL):c.1165+10T>C rs1392500587 0.00001
NM_005373.3(MPL):c.1165+8C>A rs760520500 0.00001
NM_005373.3(MPL):c.1166-4G>A rs753315546 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) rs938821234 0.00001
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 0.00001
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg) rs895171793 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.1353G>A (p.Leu451=) rs1218597246 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser) rs1018549208 0.00001
NM_005373.3(MPL):c.1443T>C (p.Thr481=) rs769867816 0.00001
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.1468+8A>G rs1221843249 0.00001
NM_005373.3(MPL):c.1469-10T>C rs756761741 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1554T>G (p.Pro518=) rs756010427 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.1566-8T>C rs1037232039 0.00001
NM_005373.3(MPL):c.1605G>T (p.Leu535=) rs371286903 0.00001
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548 0.00001
NM_005373.3(MPL):c.1731G>A (p.Arg577=) rs1297298234 0.00001
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413 0.00001
NM_005373.3(MPL):c.1773C>T (p.Tyr591=) rs752177268 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.391+7G>A rs201738900 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.468G>A (p.Glu156=) rs747175671 0.00001
NM_005373.3(MPL):c.513T>C (p.Tyr171=) rs971985422 0.00001
NM_005373.3(MPL):c.519C>T (p.Pro173=) rs1384608430 0.00001
NM_005373.3(MPL):c.534C>T (p.Asn178=) rs1473089822 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NM_005373.3(MPL):c.618G>C (p.Leu206=) rs1334230054 0.00001
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) rs775165199 0.00001
NM_005373.3(MPL):c.750C>T (p.Asn250=) rs753703546 0.00001
NM_005373.3(MPL):c.795C>T (p.Leu265=) rs774771300 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005373.3(MPL):c.840G>A (p.Leu280=) rs1313119276 0.00001
NM_005373.3(MPL):c.853+10C>A rs1341584081 0.00001
NM_005373.3(MPL):c.854-10T>C rs771241328 0.00001
NM_005373.3(MPL):c.936A>G (p.Gln312=) rs1647022428 0.00001
NM_005373.3(MPL):c.972C>T (p.Pro324=) rs1010774862 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.984C>T (p.Tyr328=) rs1174825503 0.00001
NC_000001.10:g.(?_43800988)_(43803797_?)del
NC_000001.10:g.(?_43803510)_(43806194_?)del
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NC_000001.11:g.(?_43349253)_(43349369_?)del
NM_005373.3(MPL):c.1011A>G (p.Glu337=) rs1318577614
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
NM_005373.3(MPL):c.1021A>T (p.Asn341Tyr)
NM_005373.3(MPL):c.1023T>C (p.Asn341=) rs554597610
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1035G>T (p.Gln345His)
NM_005373.3(MPL):c.1035_1042del (p.Thr346fs)
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
NM_005373.3(MPL):c.1058A>G (p.His353Arg)
NM_005373.3(MPL):c.105A>G (p.Ser35=) rs2153916223
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
NM_005373.3(MPL):c.1092C>A (p.Ile364=)
NM_005373.3(MPL):c.1095del (p.Val366fs)
NM_005373.3(MPL):c.1097T>C (p.Val366Ala)
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
NM_005373.3(MPL):c.110C>T (p.Pro37Leu)
NM_005373.3(MPL):c.1116G>A (p.Pro372=) rs781733134
NM_005373.3(MPL):c.1119T>G (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1143C>T (p.Ser381=) rs2153918638
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1158C>T (p.His386=)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
NM_005373.3(MPL):c.1165+12C>A
NM_005373.3(MPL):c.1165+18_1165+27dup
NM_005373.3(MPL):c.1165+18del
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-13G>A
NM_005373.3(MPL):c.1166-14T>C
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1166-5T>C
NM_005373.3(MPL):c.1166-6C>T rs1647059033
NM_005373.3(MPL):c.1166-9T>C
NM_005373.3(MPL):c.1166_1169dup
NM_005373.3(MPL):c.1167G>A (p.Val389=) rs2153918731
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
NM_005373.3(MPL):c.1200G>A (p.Glu400=) rs2153918759
NM_005373.3(MPL):c.1215T>C (p.His405=) rs2153918763
NM_005373.3(MPL):c.1219G>A (p.Glu407Lys)
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) rs2153918764
NM_005373.3(MPL):c.1227G>A (p.Glu409=)
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
NM_005373.3(MPL):c.1236C>T (p.His412=)
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=) rs544064034
NM_005373.3(MPL):c.1245C>A (p.Ser415=) rs1002584503
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) rs1647059649
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) rs2153918792
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
NM_005373.3(MPL):c.1254C>G (p.Ala418=) rs1344383290
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) rs2153918800
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) rs1647060064
NM_005373.3(MPL):c.1272A>G (p.Gln424=) rs1647060081
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
NM_005373.3(MPL):c.1281C>T (p.Tyr427=)
NM_005373.3(MPL):c.128G>A (p.Arg43Gln)
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
NM_005373.3(MPL):c.1302C>A (p.Asp434Glu)
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1308+12C>T
NM_005373.3(MPL):c.1308+18dup
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1308+8C>A rs376365109
NM_005373.3(MPL):c.1308+8C>G rs376365109
NM_005373.3(MPL):c.1309-18G>A
NM_005373.3(MPL):c.1309-18G>T
NM_005373.3(MPL):c.1309-19C>T
NM_005373.3(MPL):c.1309-3dup
NM_005373.3(MPL):c.1309-6G>A rs2153919199
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) rs772445486
NM_005373.3(MPL):c.1320G>C (p.Pro440=) rs2153919217
NM_005373.3(MPL):c.1320del (p.Pro441fs)
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
NM_005373.3(MPL):c.1332C>T (p.Ala444=)
NM_005373.3(MPL):c.1334G>A (p.Arg445Gln)
NM_005373.3(MPL):c.1338A>G (p.Gly446=) rs530475779
NM_005373.3(MPL):c.1339G>C (p.Gly447Arg) rs550268500
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
NM_005373.3(MPL):c.1345C>T (p.Leu449=) rs2153919239
NM_005373.3(MPL):c.1346dup (p.Glu450fs) rs2153919240
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) rs1647073222
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
NM_005373.3(MPL):c.1356C>T (p.Arg452=) rs1647073349
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
NM_005373.3(MPL):c.1365_1366del (p.Arg456fs)
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
NM_005373.3(MPL):c.1371C>T (p.Tyr457=) rs2153919254
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) rs1469739934
NM_005373.3(MPL):c.1379A>T (p.Gln460Leu)
NM_005373.3(MPL):c.1381C>T (p.Leu461=) rs2153919261
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=) rs2153919286
NM_005373.3(MPL):c.1407C>T (p.Thr469=) rs2153919290
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
NM_005373.3(MPL):c.1428G>T (p.Ser476=) rs2153919294
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
NM_005373.3(MPL):c.1434G>C (p.Ser478=) rs916392437
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
NM_005373.3(MPL):c.1450G>A (p.Glu484Lys)
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) rs2153919318
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
NM_005373.3(MPL):c.1464G>C (p.Glu488Asp)
NM_005373.3(MPL):c.1468+10G>A rs2153919323
NM_005373.3(MPL):c.1468+10G>T
NM_005373.3(MPL):c.1468+11C>A
NM_005373.3(MPL):c.1468+13C>A
NM_005373.3(MPL):c.1468+14C>G
NM_005373.3(MPL):c.1468+14C>T
NM_005373.3(MPL):c.1468+15G>T
NM_005373.3(MPL):c.1468+16del
NM_005373.3(MPL):c.1468+19G>A
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1468+6dup
NM_005373.3(MPL):c.1468+7C>A
NM_005373.3(MPL):c.1468+7C>G rs1360335718
NM_005373.3(MPL):c.1468+7C>T
NM_005373.3(MPL):c.1468+9A>G
NM_005373.3(MPL):c.1469-15C>T
NM_005373.3(MPL):c.1469-16C>T
NM_005373.3(MPL):c.1469-17C>A
NM_005373.3(MPL):c.1469-17C>G
NM_005373.3(MPL):c.1469-17C>T
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.1469-7C>G rs202232618
NM_005373.3(MPL):c.1469-7C>T
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) rs1647077635
NM_005373.3(MPL):c.147T>C (p.Thr49=)
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
NM_005373.3(MPL):c.1509C>T (p.Gly503=)
NM_005373.3(MPL):c.150C>T (p.Cys50=)
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) rs1332801952
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys) rs1647078220
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) rs2153919438
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) rs1392072769
NM_005373.3(MPL):c.1563C>T (p.Tyr521=) rs1392072769
NM_005373.3(MPL):c.1565+11C>T
NM_005373.3(MPL):c.1565+12G>A
NM_005373.3(MPL):c.1565+12G>C
NM_005373.3(MPL):c.1565+18C>A
NM_005373.3(MPL):c.1565+19dup
NM_005373.3(MPL):c.1565+7C>T
NM_005373.3(MPL):c.1566-14T>C
NM_005373.3(MPL):c.1566-15T>C
NM_005373.3(MPL):c.1566-16C>T
NM_005373.3(MPL):c.1566-19T>C
NM_005373.3(MPL):c.1566-3del rs780125200
NM_005373.3(MPL):c.1566-6C>T
NM_005373.3(MPL):c.1566-7C>T rs375344403
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
NM_005373.3(MPL):c.1572G>A (p.Leu524=)
NM_005373.3(MPL):c.1572G>C (p.Leu524=) rs2153919916
NM_005373.3(MPL):c.1584G>A (p.Leu528=) rs1380383088
NM_005373.3(MPL):c.159T>C (p.Asp53=)
NM_005373.3(MPL):c.1602C>G (p.Asp534Glu)
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
NM_005373.3(MPL):c.1609C>A (p.Arg537=)
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
NM_005373.3(MPL):c.1629del (p.Arg544fs)
NM_005373.3(MPL):c.162G>A (p.Glu54=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=) rs374221815
NM_005373.3(MPL):c.163G>A (p.Glu55Lys)
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
NM_005373.3(MPL):c.1652C>T (p.Pro551Leu)
NM_005373.3(MPL):c.1653+10C>T rs2153919956
NM_005373.3(MPL):c.1653+13C>T
NM_005373.3(MPL):c.1653+1G>C
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1653+20_1653+21del
NM_005373.3(MPL):c.1653+6T>C
NM_005373.3(MPL):c.1653+7G>A rs2153919952
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
NM_005373.3(MPL):c.1654-11A>G
NM_005373.3(MPL):c.1654-14_1654-12del
NM_005373.3(MPL):c.1654-1G>A
NM_005373.3(MPL):c.1654-20C>T
NM_005373.3(MPL):c.1654-5C>A rs1020318873
NM_005373.3(MPL):c.1654-5C>T rs1020318873
NM_005373.3(MPL):c.1654-9C>T rs2153920018
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
NM_005373.3(MPL):c.1678del (p.Cys560fs)
NM_005373.3(MPL):c.1680T>A (p.Cys560Ter)
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
NM_005373.3(MPL):c.1683A>G (p.Glu561=) rs202022473
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
NM_005373.3(MPL):c.1688T>C (p.Val563Ala)
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
NM_005373.3(MPL):c.1719G>A (p.Lys573=) rs774393112
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.1745del (p.Leu582fs)
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
NM_005373.3(MPL):c.1761C>T (p.Ala587=) rs1647101111
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
NM_005373.3(MPL):c.178A>G (p.Ser60Gly)
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=) rs374553815
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
NM_005373.3(MPL):c.1816G>A (p.Val606Met)
NM_005373.3(MPL):c.1818G>A (p.Val606=) rs2153920103
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
NM_005373.3(MPL):c.183G>C (p.Gly61=)
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
NM_005373.3(MPL):c.1849T>G (p.Cys617Gly)
NM_005373.3(MPL):c.1856C>A (p.Thr619Asn)
NM_005373.3(MPL):c.1857C>T (p.Thr619=) rs2153920125
NM_005373.3(MPL):c.1860C>T (p.His620=)
NM_005373.3(MPL):c.187T>C (p.Tyr63His)
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
NM_005373.3(MPL):c.1908A>G (p.Ter636Trp)
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) rs2153916273
NM_005373.3(MPL):c.192G>A (p.Gln64=)
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.198G>A (p.Leu66=) rs1647007308
NM_005373.3(MPL):c.19T>C (p.Phe7Leu)
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
NM_005373.3(MPL):c.207C>T (p.Tyr69=) rs2153916283
NM_005373.3(MPL):c.209del (p.Pro70fs)
NM_005373.3(MPL):c.211C>T (p.Arg71Trp)
NM_005373.3(MPL):c.212+10G>A
NM_005373.3(MPL):c.212+17G>A
NM_005373.3(MPL):c.212+17G>T
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.212+8C>T
NM_005373.3(MPL):c.213-12C>T
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.213-20G>C
NM_005373.3(MPL):c.213-6C>T rs1647009547
NM_005373.3(MPL):c.213-7C>T rs2153916416
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.219G>A (p.Lys73=)
NM_005373.3(MPL):c.223C>T (p.Arg75Cys)
NM_005373.3(MPL):c.224G>A (p.Arg75His)
NM_005373.3(MPL):c.234C>G (p.Pro78=)
NM_005373.3(MPL):c.234C>T (p.Pro78=)
NM_005373.3(MPL):c.236del (p.Leu79fs)
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.255C>T (p.Pro85=) rs1557463066
NM_005373.3(MPL):c.256del (p.His86fs)
NM_005373.3(MPL):c.264A>T (p.Gly88=)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.274G>A (p.Val92Met)
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
NM_005373.3(MPL):c.279C>T (p.Cys93=) rs2153916471
NM_005373.3(MPL):c.27C>T (p.Val9=) rs1343948119
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.306T>A (p.Arg102=) rs140354935
NM_005373.3(MPL):c.306T>C (p.Arg102=)
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.309C>A (p.Leu103=)
NM_005373.3(MPL):c.309CTT[1] (p.Phe105del)
NM_005373.3(MPL):c.311del (p.Phe104fs) rs2153916495
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.315T>C (p.Phe105=) rs2153916507
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.31T>G (p.Ser11Ala)
NM_005373.3(MPL):c.333G>A (p.Val111=) rs1570464811
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
NM_005373.3(MPL):c.339T>C (p.Asn113=)
NM_005373.3(MPL):c.351C>G (p.Asn117Lys)
NM_005373.3(MPL):c.354G>C (p.Gln118His)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
NM_005373.3(MPL):c.366G>A (p.Gln122=)
NM_005373.3(MPL):c.367C>A (p.Arg123=)
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs)
NM_005373.3(MPL):c.391+13C>T
NM_005373.3(MPL):c.391+18G>A
NM_005373.3(MPL):c.391+19T>C
NM_005373.3(MPL):c.391+19T>G
NM_005373.3(MPL):c.392-13G>C
NM_005373.3(MPL):c.392-15_392-14del
NM_005373.3(MPL):c.392-16C>T
NM_005373.3(MPL):c.392-20G>A
NM_005373.3(MPL):c.392-8G>C
NM_005373.3(MPL):c.392-8G>T
NM_005373.3(MPL):c.392-9T>C rs2153916670
NM_005373.3(MPL):c.399G>A (p.Pro133=) rs768283382
NM_005373.3(MPL):c.402T>C (p.Ala134=)
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
NM_005373.3(MPL):c.408C>A (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408del (p.Ser137fs)
NM_005373.3(MPL):c.409A>G (p.Ser137Gly)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417C>T (p.Ile139=)
NM_005373.3(MPL):c.417dup (p.Lys140fs)
NM_005373.3(MPL):c.420G>A (p.Lys140=) rs2153916692
NM_005373.3(MPL):c.423C>T (p.Ala141=) rs2153916694
NM_005373.3(MPL):c.42C>A (p.Leu14=)
NM_005373.3(MPL):c.42C>T (p.Leu14=) rs2153916109
NM_005373.3(MPL):c.432G>A (p.Gly144=)
NM_005373.3(MPL):c.432G>C (p.Gly144=) rs2153916702
NM_005373.3(MPL):c.432dup (p.Ser145fs)
NM_005373.3(MPL):c.444G>T (p.Gly148=)
NM_005373.3(MPL):c.445G>A (p.Glu149Lys) rs267598615
NM_005373.3(MPL):c.447A>G (p.Glu149=) rs2153916718
NM_005373.3(MPL):c.455del (p.Ile152fs) rs1647014461
NM_005373.3(MPL):c.459C>T (p.Ser153=)
NM_005373.3(MPL):c.465G>A (p.Glu155=)
NM_005373.3(MPL):c.468G>C (p.Glu156Asp)
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) rs768536266
NM_005373.3(MPL):c.492C>T (p.Phe164=) rs1343497787
NM_005373.3(MPL):c.493C>T (p.Leu165=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=) rs1647014738
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
NM_005373.3(MPL):c.519del (p.Arg174fs)
NM_005373.3(MPL):c.51T>G (p.Pro17=) rs2153916114
NM_005373.3(MPL):c.525T>C (p.Asp175=)
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
NM_005373.3(MPL):c.531G>A (p.Lys177=) rs2153916772
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
NM_005373.3(MPL):c.540T>C (p.Thr180=) rs2153916776
NM_005373.3(MPL):c.549G>T (p.Thr183=)
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.562A>T (p.Ile188Phe)
NM_005373.3(MPL):c.567C>T (p.Ala189=)
NM_005373.3(MPL):c.576C>T (p.Thr192=) rs2153916800
NM_005373.3(MPL):c.579C>T (p.Cys193=) rs747962998
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
NM_005373.3(MPL):c.585T>C (p.Pro195=)
NM_005373.3(MPL):c.58C>T (p.Leu20=)
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
NM_005373.3(MPL):c.614C>T (p.Ala205Val)
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
NM_005373.3(MPL):c.639G>A (p.Gln213=)
NM_005373.3(MPL):c.650C>A (p.Pro217His)
NM_005373.3(MPL):c.655dup (p.Gln219fs) rs1647016174
NM_005373.3(MPL):c.663A>G (p.Gly221=) rs1647016206
NM_005373.3(MPL):c.669G>A (p.Lys223=)
NM_005373.3(MPL):c.674C>T (p.Thr225Ile)
NM_005373.3(MPL):c.683G>A (p.Ser228Asn)
NM_005373.3(MPL):c.684T>A (p.Ser228Arg)
NM_005373.3(MPL):c.684T>C (p.Ser228=) rs766536759
NM_005373.3(MPL):c.690+10C>G rs1160632727
NM_005373.3(MPL):c.690+15T>C
NM_005373.3(MPL):c.690+16T>C
NM_005373.3(MPL):c.690+19G>A
NM_005373.3(MPL):c.690+1G>A
NM_005373.3(MPL):c.690+20C>T
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.690+7T>C
NM_005373.3(MPL):c.690+8_690+12dup
NM_005373.3(MPL):c.691-12T>A
NM_005373.3(MPL):c.691-16G>C
NM_005373.3(MPL):c.691-17G>A
NM_005373.3(MPL):c.691-4C>T
NM_005373.3(MPL):c.691-7T>C
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) rs1647019292
NM_005373.3(MPL):c.696A>G (p.Ser232=)
NM_005373.3(MPL):c.696A>T (p.Ser232=) rs767614158
NM_005373.3(MPL):c.69C>A (p.Val23=) rs2153916126
NM_005373.3(MPL):c.6C>T (p.Pro2=) rs2153916091
NM_005373.3(MPL):c.700_701del (p.Leu234fs)
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
NM_005373.3(MPL):c.723C>T (p.Cys241=) rs2153917030
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.770G>A (p.Arg257His)
NM_005373.3(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)
NM_005373.3(MPL):c.783T>C (p.Asp261=) rs749648068
NM_005373.3(MPL):c.79+10A>C
NM_005373.3(MPL):c.79+15G>A
NM_005373.3(MPL):c.79+15G>C
NM_005373.3(MPL):c.79+16G>T
NM_005373.3(MPL):c.79+17G>A
NM_005373.3(MPL):c.79+17G>T
NM_005373.3(MPL):c.79+18T>C
NM_005373.3(MPL):c.79+19G>A
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.79+20G>A
NM_005373.3(MPL):c.79+7T>C rs2153916135
NM_005373.3(MPL):c.79+8G>C
NM_005373.3(MPL):c.79+9C>G
NM_005373.3(MPL):c.79+9C>T
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.80-11C>A
NM_005373.3(MPL):c.80-15C>T
NM_005373.3(MPL):c.80-16dup
NM_005373.3(MPL):c.80-17C>T
NM_005373.3(MPL):c.80-19C>T
NM_005373.3(MPL):c.80-7T>C rs2153916207
NM_005373.3(MPL):c.80-9G>T rs2153916206
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.821del (p.Leu274fs)
NM_005373.3(MPL):c.836A>G (p.Asp279Gly)
NM_005373.3(MPL):c.837C>T (p.Asp279=)
NM_005373.3(MPL):c.840del (p.Pro281fs)
NM_005373.3(MPL):c.842del (p.Pro281fs) rs2153917100
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.853+10C>G
NM_005373.3(MPL):c.853+10C>T
NM_005373.3(MPL):c.853+10del
NM_005373.3(MPL):c.853+15G>A
NM_005373.3(MPL):c.853+18T>C
NM_005373.3(MPL):c.853+18T>G
NM_005373.3(MPL):c.853+18del
NM_005373.3(MPL):c.853+1G>A
NM_005373.3(MPL):c.853+20G>C
NM_005373.3(MPL):c.853+3G>A
NM_005373.3(MPL):c.853+7C>A rs2153917115
NM_005373.3(MPL):c.854-14T>C
NM_005373.3(MPL):c.854-15C>T
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.870A>G (p.Gln290=)
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
NM_005373.3(MPL):c.876T>C (p.Phe292=)
NM_005373.3(MPL):c.879C>G (p.Thr293=)
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
NM_005373.3(MPL):c.921C>T (p.Asp307=) rs764243911
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.933C>T (p.Ser311=) rs2153917221
NM_005373.3(MPL):c.933_935dup (p.Ser311_Gln312insHis)
NM_005373.3(MPL):c.939C>G (p.Gly313=)
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.957G>A (p.Arg319=)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.963G>C (p.Arg321=)
NM_005373.3(MPL):c.96A>C (p.Ala32=)
NM_005373.3(MPL):c.96A>G (p.Ala32=) rs1647006420
NM_005373.3(MPL):c.972_973del (p.Asp326fs) rs2153917276
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.3(MPL):c.980+14T>C
NM_005373.3(MPL):c.980+16C>T
NM_005373.3(MPL):c.980+2T>A rs1647023010
NM_005373.3(MPL):c.981-11C>T
NM_005373.3(MPL):c.981-1G>T
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.987C>A (p.Pro329=) rs144491350
NM_005373.3(MPL):c.987C>G (p.Pro329=)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005373.3(MPL):c.993_996delinsA (p.Trp331_Glu332delinsTer)
NM_005373.3(MPL):c.999C>T (p.Asn333=) rs1053884539
NM_005373.3(MPL):c.9C>G (p.Ser3=)

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