ClinVar Miner

List of variants in gene MPL studied for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 649
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05049
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00561
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00452
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00334
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00189
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00170
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00125
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
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 0.00053
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00046
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00039
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala) rs138450235 0.00031
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00027
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
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.549G>A (p.Thr183=) rs147130173 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.1063A>G (p.Lys355Glu) rs546510242 0.00017
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.1168C>T (p.Arg390Cys) rs373621350 0.00013
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.1258G>C (p.Glu420Gln) rs373326579 0.00011
NM_005373.3(MPL):c.224G>A (p.Arg75His) rs148276667 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00010
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.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1803C>T (p.Thr601=) rs140794721 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00007
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.690+19G>A rs372774734 0.00007
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.1653G>A (p.Pro551=) rs200328093 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.1573A>C (p.Arg525=) rs143100182 0.00005
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser) rs147851301 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.213-20G>C rs372065335 0.00005
NM_005373.3(MPL):c.22A>G (p.Met8Val) rs572208458 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.502G>A (p.Glu168Lys) rs6088 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1542G>A (p.Arg514=) rs367960803 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.593A>G (p.Gln198Arg) rs201050642 0.00004
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln) rs759271926 0.00003
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) rs938821234 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00003
NM_005373.3(MPL):c.1612G>C (p.Val538Leu) rs374829965 0.00003
NM_005373.3(MPL):c.1640C>T (p.Ala547Val) rs572129852 0.00003
NM_005373.3(MPL):c.1652C>T (p.Pro551Leu) rs971379181 0.00003
NM_005373.3(MPL):c.1665A>G (p.Thr555=) rs981464721 0.00003
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_005373.3(MPL):c.391+18G>A rs761408321 0.00003
NM_005373.3(MPL):c.535T>C (p.Ser179Pro) rs746331868 0.00003
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 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.961C>T (p.Arg321Trp) rs566429212 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.1058A>G (p.His353Arg) rs756953598 0.00002
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 0.00002
NM_005373.3(MPL):c.1302C>A (p.Asp434Glu) rs757381016 0.00002
NM_005373.3(MPL):c.1351C>T (p.Leu451=) rs368378328 0.00002
NM_005373.3(MPL):c.145A>G (p.Thr49Ala) rs764333753 0.00002
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser) rs750421230 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.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.212+1G>A rs142565191 0.00002
NM_005373.3(MPL):c.213-12C>T rs777317110 0.00002
NM_005373.3(MPL):c.292C>G (p.Gln98Glu) rs752682807 0.00002
NM_005373.3(MPL):c.391+13C>T rs753674585 0.00002
NM_005373.3(MPL):c.392-16C>T rs200396742 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005373.3(MPL):c.525T>C (p.Asp175=) rs764588069 0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_005373.3(MPL):c.94G>A (p.Ala32Thr) rs746914831 0.00002
NM_005373.3(MPL):c.1023T>C (p.Asn341=) rs554597610 0.00001
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg) rs146071368 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.10T>C (p.Trp4Arg) rs752112087 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 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+12C>A rs778301730 0.00001
NM_005373.3(MPL):c.1165+18_1165+27dup rs771596859 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.11G>A (p.Trp4Ter) rs755410233 0.00001
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00001
NM_005373.3(MPL):c.1251A>C (p.Ala417=) rs1647059696 0.00001
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys) rs1006158872 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.1338A>G (p.Gly446=) rs530475779 0.00001
NM_005373.3(MPL):c.1339G>C (p.Gly447Arg) rs550268500 0.00001
NM_005373.3(MPL):c.1353G>A (p.Leu451=) rs1218597246 0.00001
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.136G>A (p.Glu46Lys) rs1398260614 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1434G>A (p.Ser478=) rs916392437 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.1452G>A (p.Glu484=) rs964377256 0.00001
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893 0.00001
NM_005373.3(MPL):c.1461C>A (p.Thr487=) rs967998969 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.1469-16C>T rs1239596875 0.00001
NM_005373.3(MPL):c.1524G>A (p.Leu508=) rs1199805938 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.1565+11C>T rs368258658 0.00001
NM_005373.3(MPL):c.1565+12G>C rs1323324400 0.00001
NM_005373.3(MPL):c.1565+18C>A rs745408042 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.1566-6C>T rs1422076508 0.00001
NM_005373.3(MPL):c.1566-8T>C rs1037232039 0.00001
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly) rs1190279641 0.00001
NM_005373.3(MPL):c.159T>C (p.Asp53=) rs753950108 0.00001
NM_005373.3(MPL):c.1605G>T (p.Leu535=) rs371286903 0.00001
NM_005373.3(MPL):c.162G>A (p.Glu54=) rs761922496 0.00001
NM_005373.3(MPL):c.1647G>A (p.Leu549=) rs1445238581 0.00001
NM_005373.3(MPL):c.1653+20_1653+21del rs1207177973 0.00001
NM_005373.3(MPL):c.1654-11A>G rs1647100260 0.00001
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala) rs142161843 0.00001
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516 0.00001
NM_005373.3(MPL):c.1683A>G (p.Glu561=) rs202022473 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.1744_1745del (p.Leu582fs) rs770402221 0.00001
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413 0.00001
NM_005373.3(MPL):c.1766T>C (p.Met589Thr) rs758886118 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.1812G>C (p.Leu604=) rs1215125735 0.00001
NM_005373.3(MPL):c.1827C>A (p.Pro609=) rs1647101692 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.317C>T (p.Pro106Leu) rs750046020 0.00001
NM_005373.3(MPL):c.338A>T (p.Asn113Ile) rs1490299849 0.00001
NM_005373.3(MPL):c.339T>C (p.Asn113=) rs142446401 0.00001
NM_005373.3(MPL):c.368G>A (p.Arg123Gln) rs770877156 0.00001
NM_005373.3(MPL):c.391+7G>A rs201738900 0.00001
NM_005373.3(MPL):c.392-20G>A rs1467203884 0.00001
NM_005373.3(MPL):c.392-8G>C rs1193031958 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.567C>T (p.Ala189=) rs1340687993 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.57C>A (p.Asn19Lys) rs752706183 0.00001
NM_005373.3(MPL):c.585T>C (p.Pro195=) rs1381090463 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NM_005373.3(MPL):c.613G>A (p.Ala205Thr) rs1173817332 0.00001
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr) rs771639707 0.00001
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) rs775165199 0.00001
NM_005373.3(MPL):c.691-12T>A rs546245828 0.00001
NM_005373.3(MPL):c.691-16G>C rs1647019221 0.00001
NM_005373.3(MPL):c.696A>G (p.Ser232=) rs767614158 0.00001
NM_005373.3(MPL):c.709G>A (p.Glu237Lys) rs765133601 0.00001
NM_005373.3(MPL):c.750C>T (p.Asn250=) rs753703546 0.00001
NM_005373.3(MPL):c.79+20G>A rs745880889 0.00001
NM_005373.3(MPL):c.79+9C>T rs1339676212 0.00001
NM_005373.3(MPL):c.795C>T (p.Leu265=) rs774771300 0.00001
NM_005373.3(MPL):c.80-19C>T rs778905657 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005373.3(MPL):c.853+10C>A rs1341584081 0.00001
NM_005373.3(MPL):c.853+18T>C rs868427011 0.00001
NM_005373.3(MPL):c.854-10T>C rs771241328 0.00001
NM_005373.3(MPL):c.923A>T (p.His308Leu) rs1415067325 0.00001
NM_005373.3(MPL):c.936A>G (p.Gln312=) rs1647022428 0.00001
NM_005373.3(MPL):c.96A>G (p.Ala32=) rs1647006420 0.00001
NM_005373.3(MPL):c.981-11C>T rs747574689 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.1015A>T (p.Lys339Ter) rs2153918495
NM_005373.3(MPL):c.1017A>G (p.Lys339=) rs2545682385
NM_005373.3(MPL):c.1021A>T (p.Asn341Tyr)
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln) rs2153918503
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1026A>C (p.Pro342=) rs2153918505
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter) rs2153918515
NM_005373.3(MPL):c.1035G>T (p.Gln345His)
NM_005373.3(MPL):c.1038C>T (p.Thr346=) rs779743755
NM_005373.3(MPL):c.1057C>T (p.His353Tyr) rs906892809
NM_005373.3(MPL):c.105A>G (p.Ser35=) rs2153916223
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile) rs993382058
NM_005373.3(MPL):c.1092C>A (p.Ile364=)
NM_005373.3(MPL):c.1097T>C (p.Val366Ala)
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) rs759135440
NM_005373.3(MPL):c.1158C>T (p.His386=) rs1647057960
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr) rs2545682817
NM_005373.3(MPL):c.1165+18del rs2153918666
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-13G>A rs1261713011
NM_005373.3(MPL):c.1166-14T>C rs2545683030
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1166-5T>C rs2545683042
NM_005373.3(MPL):c.1166-6C>T rs1647059033
NM_005373.3(MPL):c.1166-9T>C rs1647059005
NM_005373.3(MPL):c.1167G>A (p.Val389=) rs2153918731
NM_005373.3(MPL):c.1176C>T (p.Pro392=) rs757289947
NM_005373.3(MPL):c.1182A>C (p.Pro394=) rs2545683089
NM_005373.3(MPL):c.1185C>T (p.Asn395=) rs775130885
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
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) rs2153918774
NM_005373.3(MPL):c.1236C>T (p.His412=)
NM_005373.3(MPL):c.1239A>G (p.Pro413=) rs2545683163
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) rs1371902994
NM_005373.3(MPL):c.1254C>G (p.Ala418=) rs1344383290
NM_005373.3(MPL):c.1260G>A (p.Glu420=) rs1553128227
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=) rs2545683269
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650
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=) rs2153918824
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1308+12C>T rs746809495
NM_005373.3(MPL):c.1308+18dup
NM_005373.3(MPL):c.1308+2T>G rs1570470323
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 rs1647072382
NM_005373.3(MPL):c.1309-18G>T rs1647072382
NM_005373.3(MPL):c.1309-19C>T rs770496864
NM_005373.3(MPL):c.1309-3dup rs2545684824
NM_005373.3(MPL):c.1309-6G>A rs2153919199
NM_005373.3(MPL):c.1314G>C (p.Leu438=) rs2153919207
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg) rs2545684865
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) rs2545684869
NM_005373.3(MPL):c.1326C>G (p.Leu442=) rs1557467118
NM_005373.3(MPL):c.1329G>T (p.Gly443=) rs191392918
NM_005373.3(MPL):c.1332C>T (p.Ala444=)
NM_005373.3(MPL):c.1334G>A (p.Arg445Gln)
NM_005373.3(MPL):c.1341G>C (p.Gly447=) rs1405322760
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.1356C>T (p.Arg452=) rs1647073349
NM_005373.3(MPL):c.1365T>C (p.Ser455=) rs2545684969
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs) rs2545684982
NM_005373.3(MPL):c.136G>C (p.Glu46Gln) rs1398260614
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=) rs2153919272
NM_005373.3(MPL):c.1395C>T (p.Leu465=) rs2153919277
NM_005373.3(MPL):c.1398C>T (p.Asn466=) rs1355033859
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=) rs1346796638
NM_005373.3(MPL):c.1428G>T (p.Ser476=) rs2153919294
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter) rs1647074009
NM_005373.3(MPL):c.1434G>C (p.Ser478=) rs916392437
NM_005373.3(MPL):c.1440A>G (p.Pro480=) rs1202577973
NM_005373.3(MPL):c.1450G>A (p.Glu484Lys)
NM_005373.3(MPL):c.1461C>G (p.Thr487=) rs967998969
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=) rs1217923226
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 rs2153919323
NM_005373.3(MPL):c.1468+11C>A rs2153919324
NM_005373.3(MPL):c.1468+13C>A
NM_005373.3(MPL):c.1468+14C>G rs1194113723
NM_005373.3(MPL):c.1468+14C>T rs1194113723
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 rs2153919319
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1468+6dup rs2545685238
NM_005373.3(MPL):c.1468+7C>A rs1360335718
NM_005373.3(MPL):c.1468+7C>G rs1360335718
NM_005373.3(MPL):c.1468+7C>T rs1360335718
NM_005373.3(MPL):c.1468+9A>G rs2153919322
NM_005373.3(MPL):c.1469-15C>T
NM_005373.3(MPL):c.1469-17C>A rs1647077374
NM_005373.3(MPL):c.1469-17C>G
NM_005373.3(MPL):c.1469-17C>T rs1647077374
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T rs2153919390
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=) rs2545673733
NM_005373.3(MPL):c.1480T>C (p.Leu494=) rs1256517062
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1491T>C (p.Ala497=) rs374982038
NM_005373.3(MPL):c.1506G>A (p.Leu502=) rs2545685991
NM_005373.3(MPL):c.1509C>T (p.Gly503=)
NM_005373.3(MPL):c.150C>T (p.Cys50=) rs1647006757
NM_005373.3(MPL):c.1523dup (p.Leu510fs) rs2545686042
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1527C>T (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu) rs1181866387
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) rs367960803
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala) rs121913616
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser) rs121913615
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+12G>A rs1323324400
NM_005373.3(MPL):c.1565+19dup rs2545686149
NM_005373.3(MPL):c.1565+7C>T
NM_005373.3(MPL):c.1566-14T>C rs2545688575
NM_005373.3(MPL):c.1566-15T>C rs2545688570
NM_005373.3(MPL):c.1566-16C>T rs936099577
NM_005373.3(MPL):c.1566-19T>C rs1208466275
NM_005373.3(MPL):c.1566-3del rs780125200
NM_005373.3(MPL):c.1566-7C>T rs375344403
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.1602C>G (p.Asp534Glu)
NM_005373.3(MPL):c.1603C>T (p.Leu535=) rs2153919928
NM_005373.3(MPL):c.1609C>A (p.Arg537=)
NM_005373.3(MPL):c.1626C>T (p.Tyr542=) rs2545688685
NM_005373.3(MPL):c.1635C>T (p.Asp545=) rs374221815
NM_005373.3(MPL):c.163G>A (p.Glu55Lys)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp) rs779404347
NM_005373.3(MPL):c.1653+10C>T rs2153919956
NM_005373.3(MPL):c.1653+13C>T rs1224505980
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1653+6T>C
NM_005373.3(MPL):c.1653+7G>A rs2153919952
NM_005373.3(MPL):c.1654-14_1654-12del
NM_005373.3(MPL):c.1654-20C>T rs758800257
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=) rs1484342373
NM_005373.3(MPL):c.1665A>C (p.Thr555=) rs981464721
NM_005373.3(MPL):c.1677C>T (p.Thr559=) rs2153920035
NM_005373.3(MPL):c.1678del (p.Cys560fs) rs2545689085
NM_005373.3(MPL):c.1680T>A (p.Cys560Ter)
NM_005373.3(MPL):c.1680T>C (p.Cys560=) rs368615234
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter) rs2545689094
NM_005373.3(MPL):c.1686A>G (p.Glu562=) rs2545689098
NM_005373.3(MPL):c.1688T>C (p.Val563Ala)
NM_005373.3(MPL):c.1701C>T (p.Leu567=) rs749111958
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp) rs2545689123
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu) rs1366838424
NM_005373.3(MPL):c.1719G>A (p.Lys573=) rs774393112
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe) rs2545689146
NM_005373.3(MPL):c.1725dup (p.Glu576fs) rs2545689154
NM_005373.3(MPL):c.1728G>A (p.Glu576=) rs2153920060
NM_005373.3(MPL):c.1743C>G (p.Pro581=) rs2153920063
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.1745del (p.Leu582fs) rs2545689194
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs) rs961801948
NM_005373.3(MPL):c.1761C>T (p.Ala587=) rs1647101111
NM_005373.3(MPL):c.1782G>A (p.Leu594=) rs2153920082
NM_005373.3(MPL):c.178A>G (p.Ser60Gly)
NM_005373.3(MPL):c.1795C>T (p.Leu599=) rs1647101426
NM_005373.3(MPL):c.1809C>G (p.Pro603=) rs374553815
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs) rs2545689304
NM_005373.3(MPL):c.1810dup (p.Leu604fs) rs2545689300
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.1815T>C (p.Ser605=) rs778565223
NM_005373.3(MPL):c.1816G>A (p.Val606Met)
NM_005373.3(MPL):c.1818G>A (p.Val606=) rs2153920103
NM_005373.3(MPL):c.183G>C (p.Gly61=)
NM_005373.3(MPL):c.1842G>A (p.Gly614=) rs768263859
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=) rs764878611
NM_005373.3(MPL):c.187T>C (p.Tyr63His)
NM_005373.3(MPL):c.1893T>C (p.Tyr631=) rs1647102056
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter) rs2153920158
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=) rs2545689427
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=) rs2545673797
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) rs2545673818
NM_005373.3(MPL):c.207C>T (p.Tyr69=) rs2153916283
NM_005373.3(MPL):c.209del (p.Pro70fs) rs2545673821
NM_005373.3(MPL):c.211C>T (p.Arg71Trp)
NM_005373.3(MPL):c.212+10G>A rs2545673882
NM_005373.3(MPL):c.212+17G>A rs2545673892
NM_005373.3(MPL):c.212+17G>T rs2545673892
NM_005373.3(MPL):c.212+8C>T rs1251552728
NM_005373.3(MPL):c.213-1G>A rs867404262
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=) rs748957880
NM_005373.3(MPL):c.223C>T (p.Arg75Cys)
NM_005373.3(MPL):c.234C>G (p.Pro78=) rs2545674527
NM_005373.3(MPL):c.234C>T (p.Pro78=) rs2545674527
NM_005373.3(MPL):c.236del (p.Leu79fs) rs2545674533
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.255C>T (p.Pro85=) rs1557463066
NM_005373.3(MPL):c.264A>T (p.Gly88=) rs1647009970
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) rs2545674586
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=) rs140354935
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.309C>A (p.Leu103=) rs2545674666
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.31T>G (p.Ser11Ala)
NM_005373.3(MPL):c.333G>A (p.Val111=) rs1570464811
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) rs1168949001
NM_005373.3(MPL):c.366G>A (p.Gln122=) rs2153916534
NM_005373.3(MPL):c.367C>A (p.Arg123=) rs1443655691
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs) rs2545674815
NM_005373.3(MPL):c.391+19T>C rs2545674850
NM_005373.3(MPL):c.391+19T>G rs2545674850
NM_005373.3(MPL):c.392-13G>C rs2545675612
NM_005373.3(MPL):c.392-15_392-14del rs750521024
NM_005373.3(MPL):c.392-8G>T rs1193031958
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=) rs1570465180
NM_005373.3(MPL):c.404C>G (p.Pro135Arg) rs761623764
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.407C>T (p.Pro136Leu) rs764904424
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.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417C>T (p.Ile139=) rs2545675677
NM_005373.3(MPL):c.417dup (p.Lys140fs) rs2545675679
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=) rs2153916702
NM_005373.3(MPL):c.432G>C (p.Gly144=) rs2153916702
NM_005373.3(MPL):c.432dup (p.Ser145fs) rs2545675698
NM_005373.3(MPL):c.444G>T (p.Gly148=) rs2153916714
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=) rs2153916722
NM_005373.3(MPL):c.465G>A (p.Glu155=) rs1647014566
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=) rs2153916736
NM_005373.3(MPL):c.501C>T (p.Tyr167=) rs1647014738
NM_005373.3(MPL):c.517C>G (p.Pro173Ala) rs202137992
NM_005373.3(MPL):c.519del (p.Arg174fs)
NM_005373.3(MPL):c.51T>G (p.Pro17=) rs2153916114
NM_005373.3(MPL):c.530A>C (p.Lys177Thr) rs1189914546
NM_005373.3(MPL):c.531G>A (p.Lys177=) rs2153916772
NM_005373.3(MPL):c.540T>C (p.Thr180=) rs2153916776
NM_005373.3(MPL):c.549G>T (p.Thr183=) rs147130173
NM_005373.3(MPL):c.556C>A (p.Gln186Lys) rs121913610
NM_005373.3(MPL):c.556C>G (p.Gln186Glu) 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.576C>T (p.Thr192=) rs2153916800
NM_005373.3(MPL):c.579C>T (p.Cys193=) rs747962998
NM_005373.3(MPL):c.582C>A (p.Cys194Ter) rs769674316
NM_005373.3(MPL):c.58C>T (p.Leu20=)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.614C>T (p.Ala205Val) rs1402521127
NM_005373.3(MPL):c.618G>C (p.Leu206=) rs1334230054
NM_005373.3(MPL):c.639G>A (p.Gln213=) rs2153916845
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=) rs2545676108
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) rs766536759
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 rs1377720063
NM_005373.3(MPL):c.690+16T>C
NM_005373.3(MPL):c.690+20C>T rs2153916897
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C rs2153916885
NM_005373.3(MPL):c.690+7T>C rs2545676173
NM_005373.3(MPL):c.690+8_690+12dup rs2545676171
NM_005373.3(MPL):c.691-17G>A rs766799985
NM_005373.3(MPL):c.691-4C>T rs2153917019
NM_005373.3(MPL):c.691-7T>C rs2545676657
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) rs1647019292
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>T (p.Glu237Ter) rs765133601
NM_005373.3(MPL):c.723C>T (p.Cys241=) rs2153917030
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.783T>C (p.Asp261=) rs749648068
NM_005373.3(MPL):c.79+10A>C rs2545673388
NM_005373.3(MPL):c.79+15G>A rs1397664290
NM_005373.3(MPL):c.79+15G>C rs1397664290
NM_005373.3(MPL):c.79+16G>T rs554649462
NM_005373.3(MPL):c.79+17G>A rs778817503
NM_005373.3(MPL):c.79+17G>T rs778817503
NM_005373.3(MPL):c.79+18T>C rs1307890747
NM_005373.3(MPL):c.79+19G>A rs2545673401
NM_005373.3(MPL):c.79+1G>A rs1647004958
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.79+7T>C rs2153916135
NM_005373.3(MPL):c.79+8G>C rs1367055558
NM_005373.3(MPL):c.79+9C>G rs1339676212
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.80-11C>A rs1352217387
NM_005373.3(MPL):c.80-15C>T rs1308974655
NM_005373.3(MPL):c.80-16dup
NM_005373.3(MPL):c.80-17C>T rs2545673617
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.836A>G (p.Asp279Gly)
NM_005373.3(MPL):c.837C>T (p.Asp279=) rs1647020450
NM_005373.3(MPL):c.840G>A (p.Leu280=) rs1313119276
NM_005373.3(MPL):c.840del (p.Pro281fs) rs2545677022
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 rs1341584081
NM_005373.3(MPL):c.853+10C>T rs1341584081
NM_005373.3(MPL):c.853+10del rs2153917118
NM_005373.3(MPL):c.853+15G>A rs2545677056
NM_005373.3(MPL):c.853+18T>G rs868427011
NM_005373.3(MPL):c.853+18del rs2545677061
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 rs2545677384
NM_005373.3(MPL):c.854-15C>T rs2153917171
NM_005373.3(MPL):c.854-1G>A rs2545677389
NM_005373.3(MPL):c.870A>G (p.Gln290=) rs2545677409
NM_005373.3(MPL):c.873C>A (p.Cys291Ter) rs2545677417
NM_005373.3(MPL):c.876T>C (p.Phe292=) rs2545677418
NM_005373.3(MPL):c.879C>G (p.Thr293=) rs2545677423
NM_005373.3(MPL):c.89T>A (p.Leu30Ter) rs2545673631
NM_005373.3(MPL):c.89T>C (p.Leu30Ser) rs2545673631
NM_005373.3(MPL):c.916C>T (p.Gln306Ter) rs751677429
NM_005373.3(MPL):c.921C>T (p.Asp307=) rs764243911
NM_005373.3(MPL):c.933C>T (p.Ser311=) rs2153917221
NM_005373.3(MPL):c.939C>G (p.Gly313=) rs1647022459
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter) rs2153917236
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.956G>A (p.Arg319Lys) rs2545677573
NM_005373.3(MPL):c.957G>A (p.Arg319=) rs1200008921
NM_005373.3(MPL):c.963G>C (p.Arg321=) rs138636505
NM_005373.3(MPL):c.96A>C (p.Ala32=) rs1647006420
NM_005373.3(MPL):c.972C>T (p.Pro324=) rs1010774862
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 rs2545677630
NM_005373.3(MPL):c.980+16C>T rs2545677636
NM_005373.3(MPL):c.980+2T>A rs1647023010
NM_005373.3(MPL):c.981-8G>A rs2153918451
NM_005373.3(MPL):c.987C>A (p.Pro329=) rs144491350
NM_005373.3(MPL):c.987C>G (p.Pro329=) rs144491350
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005373.3(MPL):c.999C>T (p.Asn333=) rs1053884539
NM_005373.3(MPL):c.9C>G (p.Ser3=) rs1316771464

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.