ClinVar Miner

List of variants in gene P3H1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 704
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.6G>A (p.Ala2=) rs899406860 0.00073
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_022356.4(P3H1):c.194G>A (p.Arg65Gln) rs372710498 0.00065
NM_022356.4(P3H1):c.727C>T (p.Arg243Cys) rs146982397 0.00056
NM_022356.4(P3H1):c.1795G>A (p.Val599Met) rs140254470 0.00050
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1838+9G>A rs374946028 0.00036
NM_022356.4(P3H1):c.918T>C (p.Tyr306=) rs147898950 0.00036
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys) rs138860050 0.00033
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022356.4(P3H1):c.2198A>G (p.Lys733Arg) rs769986758 0.00023
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys) rs372407655 0.00022
NM_022356.4(P3H1):c.1740G>A (p.Lys580=) rs201381243 0.00021
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022356.4(P3H1):c.619-11C>T rs202219307 0.00019
NM_022356.4(P3H1):c.1339C>T (p.Arg447Trp) rs150951532 0.00017
NM_022356.4(P3H1):c.1232G>A (p.Arg411Gln) rs148636462 0.00016
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile) rs143729962 0.00014
NM_022356.4(P3H1):c.435C>G (p.Pro145=) rs759352609 0.00014
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn) rs200334947 0.00013
NM_022356.4(P3H1):c.689C>T (p.Ala230Val) rs369342678 0.00013
NM_022356.4(P3H1):c.1068C>T (p.Ile356=) rs373669933 0.00011
NM_022356.4(P3H1):c.1087A>G (p.Lys363Glu) rs146476495 0.00011
NM_022356.4(P3H1):c.1402G>T (p.Gly468Cys) rs142844222 0.00010
NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg) rs3738501 0.00010
NM_022356.4(P3H1):c.1601G>A (p.Ser534Asn) rs761150997 0.00010
NM_022356.4(P3H1):c.1429G>A (p.Val477Ile) rs201170161 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile) rs147423732 0.00008
NM_022356.4(P3H1):c.783C>T (p.Asn261=) rs751705501 0.00008
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_022356.4(P3H1):c.1131C>T (p.Phe377=) rs750668333 0.00006
NM_022356.4(P3H1):c.1224G>A (p.Lys408=) rs778202277 0.00006
NM_022356.4(P3H1):c.1579G>A (p.Glu527Lys) rs962784379 0.00006
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys) rs150808079 0.00006
NM_022356.4(P3H1):c.1838+8C>T rs549922561 0.00006
NM_022356.4(P3H1):c.1908C>T (p.Thr636=) rs368979453 0.00006
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.2100A>G (p.Pro700=) rs372711844 0.00005
NM_022356.4(P3H1):c.807A>G (p.Thr269=) rs750943926 0.00005
NM_022356.4(P3H1):c.1072C>A (p.Pro358Thr) rs150509550 0.00004
NM_022356.4(P3H1):c.1081-9T>C rs778680764 0.00004
NM_022356.4(P3H1):c.113T>C (p.Leu38Pro) rs528960354 0.00004
NM_022356.4(P3H1):c.1224-14G>A rs368063653 0.00004
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) rs141759655 0.00004
NM_022356.4(P3H1):c.1472A>G (p.Asn491Ser) rs754714794 0.00004
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) rs758596191 0.00004
NM_022356.4(P3H1):c.1785C>T (p.Ala595=) rs369763531 0.00004
NM_022356.4(P3H1):c.1830C>T (p.Arg610=) rs780329868 0.00004
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr) rs200935208 0.00004
NM_022356.4(P3H1):c.1945G>A (p.Val649Met) rs775492271 0.00004
NM_022356.4(P3H1):c.2006G>A (p.Arg669His) rs578161008 0.00004
NM_022356.4(P3H1):c.2032C>A (p.Leu678Met) rs202209556 0.00004
NM_022356.4(P3H1):c.2055+12T>C rs372785606 0.00004
NM_022356.4(P3H1):c.2190G>A (p.Ser730=) rs537555305 0.00004
NM_022356.4(P3H1):c.809-5T>C rs781474350 0.00004
NM_022356.4(P3H1):c.811C>T (p.His271Tyr) rs374314894 0.00004
NM_022356.4(P3H1):c.822G>C (p.Gln274His) rs372301077 0.00004
NM_022356.4(P3H1):c.935A>G (p.Tyr312Cys) rs374135158 0.00004
NM_022356.4(P3H1):c.1076G>A (p.Arg359His) rs559371057 0.00003
NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr) rs762013462 0.00003
NM_022356.4(P3H1):c.1208T>C (p.Leu403Ser) rs143930669 0.00003
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_022356.4(P3H1):c.1326G>A (p.Val442=) rs150032924 0.00003
NM_022356.4(P3H1):c.1411C>T (p.Arg471Trp) rs147230023 0.00003
NM_022356.4(P3H1):c.1412G>T (p.Arg471Leu) rs377645905 0.00003
NM_022356.4(P3H1):c.1625C>T (p.Thr542Met) rs201236270 0.00003
NM_022356.4(P3H1):c.1640G>A (p.Arg547His) rs750685729 0.00003
NM_022356.4(P3H1):c.1683T>C (p.Phe561=) rs769277923 0.00003
NM_022356.4(P3H1):c.1686C>T (p.Ser562=) rs747701845 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe) rs769782854 0.00003
NM_022356.4(P3H1):c.511G>A (p.Val171Met) rs997474863 0.00003
NM_022356.4(P3H1):c.566T>C (p.Met189Thr) rs776145937 0.00003
NM_022356.4(P3H1):c.629G>A (p.Arg210Gln) rs373561725 0.00003
NM_022356.4(P3H1):c.739G>A (p.Glu247Lys) rs760265361 0.00003
NM_022356.4(P3H1):c.970G>A (p.Ala324Thr) rs962560071 0.00003
NM_022356.4(P3H1):c.1081-5C>T rs1652365990 0.00002
NM_022356.4(P3H1):c.1134C>T (p.Phe378=) rs765160832 0.00002
NM_022356.4(P3H1):c.1223+19C>T rs374036781 0.00002
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_022356.4(P3H1):c.1237A>G (p.Thr413Ala) rs755460349 0.00002
NM_022356.4(P3H1):c.1459C>T (p.Gln487Ter) rs1229143002 0.00002
NM_022356.4(P3H1):c.1482A>G (p.Ala494=) rs749992555 0.00002
NM_022356.4(P3H1):c.1559A>G (p.Lys520Arg) rs752109889 0.00002
NM_022356.4(P3H1):c.1616A>G (p.Tyr539Cys) rs772654104 0.00002
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_022356.4(P3H1):c.1915-18C>T rs757432937 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp) rs774693500 0.00002
NM_022356.4(P3H1):c.2128C>T (p.Pro710Ser) rs1486613257 0.00002
NM_022356.4(P3H1):c.2154C>T (p.Pro718=) rs775626323 0.00002
NM_022356.4(P3H1):c.326T>G (p.Phe109Cys) rs761389160 0.00002
NM_022356.4(P3H1):c.7G>A (p.Val3Ile) rs773870737 0.00002
NM_022356.4(P3H1):c.830A>G (p.Asn277Ser) rs200403014 0.00002
NM_022356.4(P3H1):c.852G>A (p.Thr284=) rs765846480 0.00002
NM_022356.4(P3H1):c.951T>C (p.Tyr317=) rs758079491 0.00002
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile) rs201020061 0.00002
NM_022356.4(P3H1):c.102G>T (p.Thr34=) rs1361387169 0.00001
NM_022356.4(P3H1):c.1069G>A (p.Gly357Ser) rs1181269848 0.00001
NM_022356.4(P3H1):c.1075C>T (p.Arg359Cys) rs548639069 0.00001
NM_022356.4(P3H1):c.1081-14T>C rs1343062442 0.00001
NM_022356.4(P3H1):c.1081-7C>A rs201868125 0.00001
NM_022356.4(P3H1):c.1086C>T (p.Ala362=) rs777090883 0.00001
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022356.4(P3H1):c.1097G>A (p.Arg366Gln) rs781162194 0.00001
NM_022356.4(P3H1):c.1103G>A (p.Arg368Gln) rs751395741 0.00001
NM_022356.4(P3H1):c.1141G>C (p.Asp381His) rs769330518 0.00001
NM_022356.4(P3H1):c.1170+5G>C rs72659353 0.00001
NM_022356.4(P3H1):c.1176A>G (p.Ser392=) rs748354511 0.00001
NM_022356.4(P3H1):c.1242C>T (p.Ala414=) rs780173522 0.00001
NM_022356.4(P3H1):c.1246C>T (p.Arg416Cys) rs199597388 0.00001
NM_022356.4(P3H1):c.1247G>A (p.Arg416His) rs763373396 0.00001
NM_022356.4(P3H1):c.1249A>G (p.Ile417Val) rs1389727493 0.00001
NM_022356.4(P3H1):c.1290C>G (p.Thr430=) rs771496600 0.00001
NM_022356.4(P3H1):c.1345+1G>A rs780595278 0.00001
NM_022356.4(P3H1):c.1346-20G>C rs1462110728 0.00001
NM_022356.4(P3H1):c.1359G>T (p.Leu453=) rs529980414 0.00001
NM_022356.4(P3H1):c.1367G>A (p.Gly456Asp) rs781335485 0.00001
NM_022356.4(P3H1):c.146G>A (p.Gly49Glu) rs1035425402 0.00001
NM_022356.4(P3H1):c.1474-16G>A rs756502315 0.00001
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn) rs375176399 0.00001
NM_022356.4(P3H1):c.1502G>A (p.Arg501Gln) rs557547513 0.00001
NM_022356.4(P3H1):c.1523C>A (p.Thr508Asn) rs759787229 0.00001
NM_022356.4(P3H1):c.1527C>T (p.Pro509=) rs1349076527 0.00001
NM_022356.4(P3H1):c.1600A>G (p.Ser534Gly) rs764540430 0.00001
NM_022356.4(P3H1):c.1613A>G (p.Tyr538Cys) rs748917248 0.00001
NM_022356.4(P3H1):c.1636C>T (p.Arg546Trp) rs779744195 0.00001
NM_022356.4(P3H1):c.1645A>G (p.Met549Val) rs201036797 0.00001
NM_022356.4(P3H1):c.1661G>A (p.Arg554His) rs376337637 0.00001
NM_022356.4(P3H1):c.1670C>T (p.Thr557Met) rs762603538 0.00001
NM_022356.4(P3H1):c.1706G>A (p.Arg569His) rs758131023 0.00001
NM_022356.4(P3H1):c.1762G>A (p.Val588Met) rs763655582 0.00001
NM_022356.4(P3H1):c.1786G>A (p.Glu596Lys) rs771866490 0.00001
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe) rs1344810292 0.00001
NM_022356.4(P3H1):c.1794C>T (p.Leu598=) rs1343750686 0.00001
NM_022356.4(P3H1):c.1881T>C (p.Phe627=) rs142868351 0.00001
NM_022356.4(P3H1):c.1889C>T (p.Thr630Ile) rs751516211 0.00001
NM_022356.4(P3H1):c.193C>T (p.Arg65Trp) rs1478435101 0.00001
NM_022356.4(P3H1):c.1992C>T (p.Val664=) rs1022372763 0.00001
NM_022356.4(P3H1):c.2005C>T (p.Arg669Cys) rs1482209044 0.00001
NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys) rs759714439 0.00001
NM_022356.4(P3H1):c.2110G>C (p.Asp704His) rs775358603 0.00001
NM_022356.4(P3H1):c.2145G>A (p.Gln715=) rs1306746191 0.00001
NM_022356.4(P3H1):c.357C>T (p.Cys119=) rs1351741844 0.00001
NM_022356.4(P3H1):c.368G>C (p.Cys123Ser) rs1310667421 0.00001
NM_022356.4(P3H1):c.372C>T (p.Leu124=) rs759316608 0.00001
NM_022356.4(P3H1):c.388C>G (p.His130Asp) rs1348446019 0.00001
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter) rs72659347 0.00001
NM_022356.4(P3H1):c.396C>G (p.Leu132=) rs748627996 0.00001
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_022356.4(P3H1):c.582G>C (p.Glu194Asp) rs1235483593 0.00001
NM_022356.4(P3H1):c.585C>T (p.Ala195=) rs1306407571 0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) rs747865105 0.00001
NM_022356.4(P3H1):c.618+10A>G rs575664473 0.00001
NM_022356.4(P3H1):c.618+4A>G rs191121940 0.00001
NM_022356.4(P3H1):c.645C>T (p.Leu215=) rs778978851 0.00001
NM_022356.4(P3H1):c.646T>G (p.Tyr216Asp) rs1378406205 0.00001
NM_022356.4(P3H1):c.653A>C (p.Glu218Ala) rs753716259 0.00001
NM_022356.4(P3H1):c.664C>T (p.Gln222Ter) rs1214987088 0.00001
NM_022356.4(P3H1):c.698A>C (p.Gln233Pro) rs903215732 0.00001
NM_022356.4(P3H1):c.714C>T (p.Ala238=) rs1652573953 0.00001
NM_022356.4(P3H1):c.716A>G (p.Tyr239Cys) rs201104050 0.00001
NM_022356.4(P3H1):c.737G>A (p.Cys246Tyr) rs1199863657 0.00001
NM_022356.4(P3H1):c.749A>G (p.Tyr250Cys) rs1250740001 0.00001
NM_022356.4(P3H1):c.760G>A (p.Gly254Ser) rs914752084 0.00001
NM_022356.4(P3H1):c.765C>A (p.Tyr255Ter) rs72659349 0.00001
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys) rs746863189 0.00001
NM_022356.4(P3H1):c.826C>G (p.Leu276Val) rs757498418 0.00001
NM_022356.4(P3H1):c.874C>G (p.Arg292Gly) rs773269078 0.00001
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter) rs773269078 0.00001
NM_022356.4(P3H1):c.885C>T (p.Pro295=) rs776525279 0.00001
NM_022356.4(P3H1):c.88T>C (p.Trp30Arg) rs1172430769 0.00001
NM_022356.4(P3H1):c.906G>A (p.Ser302=) rs772183831 0.00001
NM_022356.4(P3H1):c.908A>T (p.His303Leu) rs1191275386 0.00001
NM_022356.4(P3H1):c.934T>C (p.Tyr312His) rs1180298586 0.00001
NM_022356.4(P3H1):c.939C>G (p.Asn313Lys) rs1373305113 0.00001
NM_022356.4(P3H1):c.940+1G>T rs762525651 0.00001
NM_022356.4(P3H1):c.941-1G>A rs778209371 0.00001
NM_022356.4(P3H1):c.980A>G (p.Tyr327Cys) rs1454717997 0.00001
NM_022356.4(P3H1):c.993C>T (p.Phe331=) rs1250792335 0.00001
NC_000001.10:g.(?_43218172)_(43218675_?)del
NM_022356.4(P3H1):c.1002C>T (p.Asp334=)
NM_022356.4(P3H1):c.1003G>A (p.Glu335Lys) rs941343754
NM_022356.4(P3H1):c.1005G>A (p.Glu335=)
NM_022356.4(P3H1):c.1014C>T (p.Asn338=) rs1652489003
NM_022356.4(P3H1):c.1018A>G (p.Asn340Asp)
NM_022356.4(P3H1):c.1019A>G (p.Asn340Ser) rs759697322
NM_022356.4(P3H1):c.1021T>C (p.Leu341=)
NM_022356.4(P3H1):c.1021T>G (p.Leu341Val) rs1652488613
NM_022356.4(P3H1):c.1027T>C (p.Tyr343His)
NM_022356.4(P3H1):c.1035A>T (p.Ala345=)
NM_022356.4(P3H1):c.103C>T (p.Pro35Ser) rs2124176478
NM_022356.4(P3H1):c.1051G>T (p.Glu351Ter)
NM_022356.4(P3H1):c.1056C>T (p.His352=)
NM_022356.4(P3H1):c.105_120del (p.Asp36fs)
NM_022356.4(P3H1):c.1060A>T (p.Arg354Ter) rs1570472113
NM_022356.4(P3H1):c.1066A>T (p.Ile356Phe)
NM_022356.4(P3H1):c.1067T>A (p.Ile356Asn) rs1184804170
NM_022356.4(P3H1):c.1074C>A (p.Pro358=)
NM_022356.4(P3H1):c.1075C>G (p.Arg359Gly) rs548639069
NM_022356.4(P3H1):c.1080+12C>G
NM_022356.4(P3H1):c.1080+14_1080+17del
NM_022356.4(P3H1):c.1080+17T>C
NM_022356.4(P3H1):c.1080+3G>A
NM_022356.4(P3H1):c.1080+3G>C
NM_022356.4(P3H1):c.1081-10T>A
NM_022356.4(P3H1):c.1081-13T>G
NM_022356.4(P3H1):c.1081-20_1081-18del
NM_022356.4(P3H1):c.1081-4T>C rs2124125449
NM_022356.4(P3H1):c.1090G>T (p.Glu364Ter)
NM_022356.4(P3H1):c.1092G>A (p.Glu364=)
NM_022356.4(P3H1):c.1098A>G (p.Arg366=)
NM_022356.4(P3H1):c.109C>G (p.Leu37Val)
NM_022356.4(P3H1):c.1102C>G (p.Arg368Gly) rs118203996
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter) rs118203996
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.112C>T (p.Leu38Phe) rs2124176450
NM_022356.4(P3H1):c.1140T>C (p.Tyr380=)
NM_022356.4(P3H1):c.1169C>T (p.Pro390Leu)
NM_022356.4(P3H1):c.1170+13A>G
NM_022356.4(P3H1):c.1170+15A>G
NM_022356.4(P3H1):c.1170+17G>A
NM_022356.4(P3H1):c.1170+18A>T rs2124124471
NM_022356.4(P3H1):c.1170+19G>A
NM_022356.4(P3H1):c.1170+2T>C
NM_022356.4(P3H1):c.1170+6C>G rs1652352034
NM_022356.4(P3H1):c.1170+8dup
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
NM_022356.4(P3H1):c.1171-14C>T
NM_022356.4(P3H1):c.1171-2A>T rs1013320485
NM_022356.4(P3H1):c.1171-4T>C
NM_022356.4(P3H1):c.1171_1183del (p.Asp391fs)
NM_022356.4(P3H1):c.1175C>T (p.Ser392Leu)
NM_022356.4(P3H1):c.1182T>G (p.Thr394=)
NM_022356.4(P3H1):c.1188A>G (p.Glu396=)
NM_022356.4(P3H1):c.1197T>A (p.Ile399=)
NM_022356.4(P3H1):c.1205_1206del (p.Arg402fs)
NM_022356.4(P3H1):c.120C>G (p.Ala40=) rs2124176366
NM_022356.4(P3H1):c.1212A>G (p.Gln404=)
NM_022356.4(P3H1):c.1218A>G (p.Lys406=)
NM_022356.4(P3H1):c.1222A>T (p.Lys408Ter) rs1557569037
NM_022356.4(P3H1):c.1223+10T>C
NM_022356.4(P3H1):c.1223+11T>C
NM_022356.4(P3H1):c.1223+11_1223+13dup
NM_022356.4(P3H1):c.1223+12G>A
NM_022356.4(P3H1):c.1223+14A>G
NM_022356.4(P3H1):c.1223+2T>C rs2124122351
NM_022356.4(P3H1):c.1223+2T>G
NM_022356.4(P3H1):c.1223+8C>T rs2124122287
NM_022356.4(P3H1):c.1224-10G>A
NM_022356.4(P3H1):c.1224-12C>A
NM_022356.4(P3H1):c.1224-13G>A
NM_022356.4(P3H1):c.1224-15C>T
NM_022356.4(P3H1):c.1224-20C>G rs1458163337
NM_022356.4(P3H1):c.1224-20C>T
NM_022356.4(P3H1):c.1224-2A>G
NM_022356.4(P3H1):c.1224-4A>G rs1652311986
NM_022356.4(P3H1):c.1224-57_1253del
NM_022356.4(P3H1):c.1224-8G>A
NM_022356.4(P3H1):c.1224-8G>C rs749297067
NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) rs1652311421
NM_022356.4(P3H1):c.1242_1248del (p.Val415fs)
NM_022356.4(P3H1):c.1243G>T (p.Val415Leu)
NM_022356.4(P3H1):c.1256A>G (p.Gln419Arg)
NM_022356.4(P3H1):c.1260G>A (p.Glu420=)
NM_022356.4(P3H1):c.1269C>T (p.Asn423=) rs1553142371
NM_022356.4(P3H1):c.1281A>T (p.Glu427Asp)
NM_022356.4(P3H1):c.129C>T (p.Thr43=)
NM_022356.4(P3H1):c.1305G>A (p.Lys435=)
NM_022356.4(P3H1):c.1308C>G (p.Thr436=) rs111588746
NM_022356.4(P3H1):c.1308C>T (p.Thr436=) rs111588746
NM_022356.4(P3H1):c.1316C>G (p.Ser439Ter)
NM_022356.4(P3H1):c.1318C>T (p.Leu440=)
NM_022356.4(P3H1):c.1325T>C (p.Val442Ala) rs1308933452
NM_022356.4(P3H1):c.1342G>A (p.Glu448Lys)
NM_022356.4(P3H1):c.1345+13A>G
NM_022356.4(P3H1):c.1345+15A>C
NM_022356.4(P3H1):c.1345+17A>G
NM_022356.4(P3H1):c.1345+7G>A
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
NM_022356.4(P3H1):c.1346-12A>G
NM_022356.4(P3H1):c.1346-15G>T
NM_022356.4(P3H1):c.1346-1G>A
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022356.4(P3H1):c.1346-7T>C
NM_022356.4(P3H1):c.1346G>A (p.Gly449Asp)
NM_022356.4(P3H1):c.1350C>T (p.Gly450=)
NM_022356.4(P3H1):c.1351_1357del (p.Pro451fs)
NM_022356.4(P3H1):c.1354C>T (p.Leu452=) rs1157398498
NM_022356.4(P3H1):c.1367del (p.Gly456fs)
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1391A>G (p.Lys464Arg)
NM_022356.4(P3H1):c.1395C>G (p.Leu465=)
NM_022356.4(P3H1):c.1406C>T (p.Ser469Phe) rs2124110566
NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter) rs757634052
NM_022356.4(P3H1):c.1411C>A (p.Arg471=)
NM_022356.4(P3H1):c.1411C>G (p.Arg471Gly) rs147230023
NM_022356.4(P3H1):c.1412G>A (p.Arg471Gln) rs377645905
NM_022356.4(P3H1):c.1417G>A (p.Val473Met)
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) rs761570342
NM_022356.4(P3H1):c.1434C>A (p.Ile478=) rs144981408
NM_022356.4(P3H1):c.1443C>T (p.His481=)
NM_022356.4(P3H1):c.1446G>A (p.Glu482=) rs1211741602
NM_022356.4(P3H1):c.1448G>A (p.Cys483Tyr)
NM_022356.4(P3H1):c.1455G>A (p.Glu485=)
NM_022356.4(P3H1):c.1456C>T (p.Leu486=) rs1652169932
NM_022356.4(P3H1):c.1458G>A (p.Leu486=) rs202023497
NM_022356.4(P3H1):c.1461G>A (p.Gln487=) rs1553141914
NM_022356.4(P3H1):c.1473+11C>T
NM_022356.4(P3H1):c.1473+12C>T
NM_022356.4(P3H1):c.1473+16T>C
NM_022356.4(P3H1):c.1473+3A>G rs1652167519
NM_022356.4(P3H1):c.1473+4A>G
NM_022356.4(P3H1):c.1473T>C (p.Asn491=)
NM_022356.4(P3H1):c.1474-19T>C
NM_022356.4(P3H1):c.1474-1G>A
NM_022356.4(P3H1):c.1474-4G>A
NM_022356.4(P3H1):c.1474-5T>C
NM_022356.4(P3H1):c.1474-9G>A rs2124109165
NM_022356.4(P3H1):c.1476G>T (p.Val492=)
NM_022356.4(P3H1):c.147G>A (p.Gly49=)
NM_022356.4(P3H1):c.1484_1485dup (p.Ser496fs)
NM_022356.4(P3H1):c.1497C>G (p.Gly499=)
NM_022356.4(P3H1):c.1499_1502dup (p.Gly502fs)
NM_022356.4(P3H1):c.1500C>T (p.Tyr500=)
NM_022356.4(P3H1):c.1511C>T (p.Thr504Ile) rs2124108863
NM_022356.4(P3H1):c.1512C>G (p.Thr504=)
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser) rs759787229
NM_022356.4(P3H1):c.1524T>G (p.Thr508=)
NM_022356.4(P3H1):c.1526C>A (p.Pro509His)
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr) rs149894086
NM_022356.4(P3H1):c.1531G>T (p.Glu511Ter) rs773832238
NM_022356.4(P3H1):c.1533A>G (p.Glu511=)
NM_022356.4(P3H1):c.1541A>G (p.Tyr514Cys) rs1011790349
NM_022356.4(P3H1):c.1551T>C (p.Thr517=)
NM_022356.4(P3H1):c.1566C>G (p.Leu522=) rs2124108331
NM_022356.4(P3H1):c.1569+13C>G
NM_022356.4(P3H1):c.1569+15G>C
NM_022356.4(P3H1):c.1569+17G>A
NM_022356.4(P3H1):c.1569+1G>A rs369651701
NM_022356.4(P3H1):c.156C>T (p.Pro52=)
NM_022356.4(P3H1):c.1570-17A>G
NM_022356.4(P3H1):c.1578A>G (p.Gln526=)
NM_022356.4(P3H1):c.1593del (p.Leu532fs)
NM_022356.4(P3H1):c.15G>A (p.Ala5=)
NM_022356.4(P3H1):c.1604C>T (p.Ala535Val) rs1651963746
NM_022356.4(P3H1):c.1608C>T (p.His536=)
NM_022356.4(P3H1):c.1609C>T (p.Leu537=)
NM_022356.4(P3H1):c.1610T>C (p.Leu537Pro) rs2124094046
NM_022356.4(P3H1):c.1611G>A (p.Leu537=)
NM_022356.4(P3H1):c.1618_1620del (p.Asn540del) rs1557562500
NM_022356.4(P3H1):c.1621G>A (p.Val541Met) rs369552220
NM_022356.4(P3H1):c.1621G>C (p.Val541Leu)
NM_022356.4(P3H1):c.1627G>A (p.Glu543Lys) rs1651960578
NM_022356.4(P3H1):c.1632G>A (p.Lys544=) rs2124093858
NM_022356.4(P3H1):c.163G>A (p.Val55Ile) rs2124175927
NM_022356.4(P3H1):c.1658del (p.Phe553fs)
NM_022356.4(P3H1):c.1661G>T (p.Arg554Leu) rs376337637
NM_022356.4(P3H1):c.166C>T (p.Leu56=) rs746752523
NM_022356.4(P3H1):c.1671G>A (p.Thr557=)
NM_022356.4(P3H1):c.1674C>G (p.Pro558=)
NM_022356.4(P3H1):c.1674C>T (p.Pro558=)
NM_022356.4(P3H1):c.1685C>G (p.Ser562Cys) rs1651954957
NM_022356.4(P3H1):c.1689C>T (p.Tyr563=) rs2124093257
NM_022356.4(P3H1):c.168G>C (p.Leu56=) rs2124175891
NM_022356.4(P3H1):c.16T>C (p.Leu6=)
NM_022356.4(P3H1):c.1701G>A (p.Val567=)
NM_022356.4(P3H1):c.1709C>T (p.Thr570Ile)
NM_022356.4(P3H1):c.1716C>A (p.Ile572=)
NM_022356.4(P3H1):c.171C>T (p.Ser57=)
NM_022356.4(P3H1):c.1720+10A>G
NM_022356.4(P3H1):c.1720+16C>T
NM_022356.4(P3H1):c.1720+17C>T
NM_022356.4(P3H1):c.1720+1G>A
NM_022356.4(P3H1):c.1720+20C>A
NM_022356.4(P3H1):c.1720+3G>A
NM_022356.4(P3H1):c.1721-16G>A
NM_022356.4(P3H1):c.1721-18G>A
NM_022356.4(P3H1):c.1721-19T>C
NM_022356.4(P3H1):c.1721-20A>G
NM_022356.4(P3H1):c.1721-20_1721-19del
NM_022356.4(P3H1):c.1721-5C>A rs1430349543
NM_022356.4(P3H1):c.1721-5C>T
NM_022356.4(P3H1):c.1721-6C>T
NM_022356.4(P3H1):c.1721-9T>C
NM_022356.4(P3H1):c.1722G>C (p.Glu574Asp) rs1651848301
NM_022356.4(P3H1):c.1725C>A (p.Val575=)
NM_022356.4(P3H1):c.1728G>A (p.Gln576=)
NM_022356.4(P3H1):c.1770C>T (p.Asn590=)
NM_022356.4(P3H1):c.1779G>C (p.Leu593=)
NM_022356.4(P3H1):c.1793T>G (p.Leu598Arg) rs2124082697
NM_022356.4(P3H1):c.1795G>C (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1795G>T (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1803C>T (p.Val601=)
NM_022356.4(P3H1):c.1818C>G (p.Ala606=)
NM_022356.4(P3H1):c.1821C>T (p.Tyr607=)
NM_022356.4(P3H1):c.1827C>T (p.Phe609=)
NM_022356.4(P3H1):c.1829G>T (p.Arg610Leu)
NM_022356.4(P3H1):c.1836C>T (p.Tyr612=)
NM_022356.4(P3H1):c.1838+11G>A
NM_022356.4(P3H1):c.1838+16G>A
NM_022356.4(P3H1):c.1838+17T>C rs1651838250
NM_022356.4(P3H1):c.1838+17T>G
NM_022356.4(P3H1):c.1838+18G>A
NM_022356.4(P3H1):c.1838+19C>G
NM_022356.4(P3H1):c.1839-11G>T
NM_022356.4(P3H1):c.1839-18T>C
NM_022356.4(P3H1):c.1839-19A>C
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.1839-5C>G
NM_022356.4(P3H1):c.1839-9C>T
NM_022356.4(P3H1):c.1840G>A (p.Ala614Thr) rs868224632
NM_022356.4(P3H1):c.1840G>T (p.Ala614Ser) rs868224632
NM_022356.4(P3H1):c.1842C>T (p.Ala614=)
NM_022356.4(P3H1):c.1856del (p.Asn619fs) rs1570454914
NM_022356.4(P3H1):c.1866C>T (p.Phe622=)
NM_022356.4(P3H1):c.186G>A (p.Leu62=)
NM_022356.4(P3H1):c.1872C>T (p.Gly624=)
NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)
NM_022356.4(P3H1):c.1881_1882del (p.Phe627fs)
NM_022356.4(P3H1):c.1890T>C (p.Thr630=) rs1570454832
NM_022356.4(P3H1):c.1894C>T (p.Leu632=)
NM_022356.4(P3H1):c.189C>T (p.Arg63=)
NM_022356.4(P3H1):c.1911G>T (p.Val637=)
NM_022356.4(P3H1):c.1914+10C>T
NM_022356.4(P3H1):c.1914+13T>C
NM_022356.4(P3H1):c.1914+15G>A
NM_022356.4(P3H1):c.1914+1G>A
NM_022356.4(P3H1):c.1914+2T>C
NM_022356.4(P3H1):c.1914+5G>C rs1570454763
NM_022356.4(P3H1):c.1914+9T>C
NM_022356.4(P3H1):c.1914G>A (p.Thr638=) rs765091931
NM_022356.4(P3H1):c.1915-13C>T
NM_022356.4(P3H1):c.1915-17C>T
NM_022356.4(P3H1):c.1915-17_1915-16del
NM_022356.4(P3H1):c.1915-19C>T
NM_022356.4(P3H1):c.1915-1G>A rs2124077667
NM_022356.4(P3H1):c.1915-21dup
NM_022356.4(P3H1):c.1915-9C>T rs1402209381
NM_022356.4(P3H1):c.1918dup (p.Glu640fs)
NM_022356.4(P3H1):c.1923G>C (p.Val641=)
NM_022356.4(P3H1):c.1945G>C (p.Val649Leu) rs775492271
NM_022356.4(P3H1):c.1956T>C (p.Ser652=)
NM_022356.4(P3H1):c.195G>A (p.Arg65=)
NM_022356.4(P3H1):c.1972C>A (p.Pro658Thr) rs1570453990
NM_022356.4(P3H1):c.1977T>C (p.His659=)
NM_022356.4(P3H1):c.1980A>G (p.Gly660=)
NM_022356.4(P3H1):c.1981_1984del (p.Val661fs) rs2124076966
NM_022356.4(P3H1):c.1988C>G (p.Ala663Gly) rs1651782504
NM_022356.4(P3H1):c.1996A>G (p.Arg666Gly) rs1477470732
NM_022356.4(P3H1):c.1998G>A (p.Arg666=)
NM_022356.4(P3H1):c.1998G>C (p.Arg666Ser)
NM_022356.4(P3H1):c.2014dup (p.Ile672fs)
NM_022356.4(P3H1):c.2016C>T (p.Ile672=)
NM_022356.4(P3H1):c.2017G>A (p.Ala673Thr) rs192750565
NM_022356.4(P3H1):c.2017G>T (p.Ala673Ser)
NM_022356.4(P3H1):c.2019C>A (p.Ala673=) rs1651779110
NM_022356.4(P3H1):c.2019C>T (p.Ala673=)
NM_022356.4(P3H1):c.2022G>A (p.Leu674=)
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)
NM_022356.4(P3H1):c.2024G>T (p.Trp675Leu) rs1226770904
NM_022356.4(P3H1):c.2028C>T (p.Phe676=)
NM_022356.4(P3H1):c.2029dup (p.Thr677fs)
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2054G>T (p.Arg685Leu)
NM_022356.4(P3H1):c.2055+10G>C
NM_022356.4(P3H1):c.2055+11C>T
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2055+13C>T rs76628300
NM_022356.4(P3H1):c.2055+13_2055+31del
NM_022356.4(P3H1):c.2055+14G>A
NM_022356.4(P3H1):c.2055+14G>C
NM_022356.4(P3H1):c.2055+15A>T
NM_022356.4(P3H1):c.2055+1G>A rs2124076040
NM_022356.4(P3H1):c.2056-15G>A
NM_022356.4(P3H1):c.2056-5T>A
NM_022356.4(P3H1):c.2056-8C>T
NM_022356.4(P3H1):c.2061G>A (p.Arg687=)
NM_022356.4(P3H1):c.2073T>A (p.Asp691Glu) rs764716982
NM_022356.4(P3H1):c.2091C>T (p.Leu697=) rs1360993770
NM_022356.4(P3H1):c.2099del (p.Pro700fs)
NM_022356.4(P3H1):c.2101_2102insT (p.Glu701fs) rs778110583
NM_022356.4(P3H1):c.2124G>C (p.Glu708Asp)
NM_022356.4(P3H1):c.2130C>T (p.Pro710=)
NM_022356.4(P3H1):c.2131C>T (p.Leu711=)
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022356.4(P3H1):c.2135A>T (p.Asp712Val)
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter) rs2124072579
NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg) rs1295977850
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.2148C>T (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.2154C>G (p.Pro718=)
NM_022356.4(P3H1):c.2154del (p.Glu719fs)
NM_022356.4(P3H1):c.2154dup (p.Glu719fs) rs752671524
NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)
NM_022356.4(P3H1):c.2169G>A (p.Glu723=)
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.2176_2177del (p.Ser726fs)
NM_022356.4(P3H1):c.2181C>T (p.Gly727=) rs2124072049
NM_022356.4(P3H1):c.2193_2194dup (p.Pro732fs) rs2124071974
NM_022356.4(P3H1):c.2206C>T (p.Leu736=)
NM_022356.4(P3H1):c.2208A>C (p.Leu736=)
NM_022356.4(P3H1):c.2208A>G (p.Leu736=)
NM_022356.4(P3H1):c.24G>A (p.Leu8=)
NM_022356.4(P3H1):c.306C>G (p.Ala102=)
NM_022356.4(P3H1):c.308C>T (p.Ala103Val)
NM_022356.4(P3H1):c.309C>T (p.Ala103=)
NM_022356.4(P3H1):c.319C>T (p.Leu107=)
NM_022356.4(P3H1):c.32C>T (p.Thr11Ile) rs1570487789
NM_022356.4(P3H1):c.331G>C (p.Gly111Arg) rs1557580485
NM_022356.4(P3H1):c.332G>A (p.Gly111Glu) rs763732280
NM_022356.4(P3H1):c.336C>G (p.Gly112=)
NM_022356.4(P3H1):c.336C>T (p.Gly112=)
NM_022356.4(P3H1):c.337C>G (p.Leu113Val) rs965203707
NM_022356.4(P3H1):c.342G>A (p.Leu114=)
NM_022356.4(P3H1):c.343C>T (p.Arg115Cys) rs1653015841
NM_022356.4(P3H1):c.354C>G (p.Ala118=) rs1214218371
NM_022356.4(P3H1):c.360G>A (p.Leu120=) rs2124174573
NM_022356.4(P3H1):c.369C>T (p.Cys123=)
NM_022356.4(P3H1):c.377del (p.Pro126fs) rs2124174456
NM_022356.4(P3H1):c.378G>C (p.Pro126=)
NM_022356.4(P3H1):c.384C>T (p.Ala128=)
NM_022356.4(P3H1):c.393G>A (p.Ser131=) rs982525184
NM_022356.4(P3H1):c.395T>C (p.Leu132Pro) rs951159895
NM_022356.4(P3H1):c.399C>A (p.Ser133Arg) rs1557580282
NM_022356.4(P3H1):c.399C>T (p.Ser133=)
NM_022356.4(P3H1):c.411G>A (p.Glu137=)
NM_022356.4(P3H1):c.417del (p.Glu139fs)
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
NM_022356.4(P3H1):c.420C>G (p.Phe140Leu) rs1027100537
NM_022356.4(P3H1):c.438C>A (p.Tyr146Ter)
NM_022356.4(P3H1):c.448C>T (p.Gln150Ter)
NM_022356.4(P3H1):c.45C>G (p.Val15=)
NM_022356.4(P3H1):c.465+10T>G
NM_022356.4(P3H1):c.465+17A>C
NM_022356.4(P3H1):c.465+20C>T
NM_022356.4(P3H1):c.465+8C>A
NM_022356.4(P3H1):c.465+9C>T
NM_022356.4(P3H1):c.466-15A>G
NM_022356.4(P3H1):c.466A>G (p.Ile156Val) rs751518628
NM_022356.4(P3H1):c.474G>A (p.Lys158=)
NM_022356.4(P3H1):c.483A>G (p.Lys161=)
NM_022356.4(P3H1):c.495A>C (p.Ala165=)
NM_022356.4(P3H1):c.501C>T (p.His167=)
NM_022356.4(P3H1):c.504C>T (p.Thr168=)
NM_022356.4(P3H1):c.510C>T (p.Phe170=) rs1028946631
NM_022356.4(P3H1):c.516C>A (p.Gly172=)
NM_022356.4(P3H1):c.51C>T (p.Ala17=)
NM_022356.4(P3H1):c.527A>T (p.His176Leu)
NM_022356.4(P3H1):c.530T>C (p.Met177Thr)
NM_022356.4(P3H1):c.555T>C (p.Tyr185=)
NM_022356.4(P3H1):c.558C>T (p.Tyr186=)
NM_022356.4(P3H1):c.561A>G (p.Gln187=)
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_022356.4(P3H1):c.573A>C (p.Gly191=)
NM_022356.4(P3H1):c.57C>T (p.Ala19=)
NM_022356.4(P3H1):c.586G>A (p.Asp196Asn)
NM_022356.4(P3H1):c.589T>C (p.Phe197Leu)
NM_022356.4(P3H1):c.612C>T (p.Pro204=)
NM_022356.4(P3H1):c.617T>C (p.Met206Thr)
NM_022356.4(P3H1):c.618+10del rs760593141
NM_022356.4(P3H1):c.618+10dup
NM_022356.4(P3H1):c.618+12T>C rs1570479338
NM_022356.4(P3H1):c.618+12T>G
NM_022356.4(P3H1):c.618+18C>T
NM_022356.4(P3H1):c.618+19C>T
NM_022356.4(P3H1):c.618+9_618+10del
NM_022356.4(P3H1):c.618+9_618+10dup rs760593141
NM_022356.4(P3H1):c.619-15C>T rs2124143402
NM_022356.4(P3H1):c.619-15_619-14del
NM_022356.4(P3H1):c.619-16T>A
NM_022356.4(P3H1):c.619-16T>C
NM_022356.4(P3H1):c.619-17C>A
NM_022356.4(P3H1):c.619-19T>C
NM_022356.4(P3H1):c.628C>T (p.Arg210Ter) rs137853950
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)
NM_022356.4(P3H1):c.630A>G (p.Arg210=) rs1570474459
NM_022356.4(P3H1):c.639G>A (p.Val213=)
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
NM_022356.4(P3H1):c.641_643del (p.Arg214del) rs2124143063
NM_022356.4(P3H1):c.643C>T (p.Leu215Phe) rs1652579090
NM_022356.4(P3H1):c.652G>T (p.Glu218Ter) rs2124142972
NM_022356.4(P3H1):c.655del (p.Glu219fs)
NM_022356.4(P3H1):c.66C>T (p.Ala22=)
NM_022356.4(P3H1):c.674T>C (p.Val225Ala) rs1557573602
NM_022356.4(P3H1):c.678C>G (p.Pro226=)
NM_022356.4(P3H1):c.678C>T (p.Pro226=)
NM_022356.4(P3H1):c.682C>T (p.Leu228=)
NM_022356.4(P3H1):c.684A>G (p.Leu228=)
NM_022356.4(P3H1):c.684A>T (p.Leu228=)
NM_022356.4(P3H1):c.690G>A (p.Ala230=)
NM_022356.4(P3H1):c.690G>C (p.Ala230=) rs376714509
NM_022356.4(P3H1):c.691G>A (p.Ala231Thr) rs2124142756
NM_022356.4(P3H1):c.693G>T (p.Ala231=)
NM_022356.4(P3H1):c.694C>T (p.Leu232=)
NM_022356.4(P3H1):c.696G>A (p.Leu232=)
NM_022356.4(P3H1):c.696G>T (p.Leu232=)
NM_022356.4(P3H1):c.699A>G (p.Gln233=)
NM_022356.4(P3H1):c.69G>A (p.Glu23=) rs1237398609
NM_022356.4(P3H1):c.69G>C (p.Glu23Asp) rs1237398609
NM_022356.4(P3H1):c.708T>C (p.Phe236=)
NM_022356.4(P3H1):c.711G>T (p.Val237=)
NM_022356.4(P3H1):c.728G>C (p.Arg243Pro)
NM_022356.4(P3H1):c.72C>T (p.Val24=) rs2124176716
NM_022356.4(P3H1):c.730G>A (p.Ala244Thr)
NM_022356.4(P3H1):c.738C>T (p.Cys246=)
NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)
NM_022356.4(P3H1):c.741del (p.Tyr250fs)
NM_022356.4(P3H1):c.751_765dup (p.Asp251_Tyr255dup) rs1652568948
NM_022356.4(P3H1):c.753C>T (p.Asp251=)
NM_022356.4(P3H1):c.765C>T (p.Tyr255=)
NM_022356.4(P3H1):c.780C>T (p.Tyr260=)
NM_022356.4(P3H1):c.781A>G (p.Asn261Asp)
NM_022356.4(P3H1):c.786T>C (p.Ala262=)
NM_022356.4(P3H1):c.791del (p.Leu264fs)
NM_022356.4(P3H1):c.792C>G (p.Leu264=)
NM_022356.4(P3H1):c.792C>T (p.Leu264=)
NM_022356.4(P3H1):c.808+10G>A
NM_022356.4(P3H1):c.808+10G>T
NM_022356.4(P3H1):c.808+11T>C
NM_022356.4(P3H1):c.808+14A>G
NM_022356.4(P3H1):c.808+4C>T
NM_022356.4(P3H1):c.808+5G>A rs368972030
NM_022356.4(P3H1):c.808+5G>T
NM_022356.4(P3H1):c.808+6T>C
NM_022356.4(P3H1):c.808+7_808+8delinsAT rs2124141850
NM_022356.4(P3H1):c.808+9A>T rs1553143084
NM_022356.4(P3H1):c.809-10T>C
NM_022356.4(P3H1):c.809-11A>G
NM_022356.4(P3H1):c.809-12G>A rs1652554096
NM_022356.4(P3H1):c.809-18C>T
NM_022356.4(P3H1):c.809-1G>A
NM_022356.4(P3H1):c.809-8C>T
NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe) rs1652552999
NM_022356.4(P3H1):c.825C>G (p.Val275=)
NM_022356.4(P3H1):c.825C>T (p.Val275=)
NM_022356.4(P3H1):c.831C>T (p.Asn277=)
NM_022356.4(P3H1):c.837G>A (p.Lys279=)
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022356.4(P3H1):c.849C>T (p.Val283=)
NM_022356.4(P3H1):c.866del (p.His289fs)
NM_022356.4(P3H1):c.881A>C (p.Lys294Thr)
NM_022356.4(P3H1):c.882G>A (p.Lys294=) rs1570473600
NM_022356.4(P3H1):c.895T>C (p.Phe299Leu)
NM_022356.4(P3H1):c.898del (p.Leu300fs)
NM_022356.4(P3H1):c.900C>G (p.Leu300=) rs780210200
NM_022356.4(P3H1):c.900C>T (p.Leu300=)
NM_022356.4(P3H1):c.905C>T (p.Ser302Leu) rs772625904
NM_022356.4(P3H1):c.921G>A (p.Leu307=)
NM_022356.4(P3H1):c.922C>T (p.Gln308Ter)
NM_022356.4(P3H1):c.927del (p.Phe309fs)
NM_022356.4(P3H1):c.930C>T (p.Ala310=)
NM_022356.4(P3H1):c.933C>G (p.Tyr311Ter) rs72659350
NM_022356.4(P3H1):c.936T>C (p.Tyr312=)
NM_022356.4(P3H1):c.939_940del (p.Ile314fs)
NM_022356.4(P3H1):c.940+10A>G
NM_022356.4(P3H1):c.940+19C>G
NM_022356.4(P3H1):c.940+20C>G
NM_022356.4(P3H1):c.940+8C>T
NM_022356.4(P3H1):c.941-10C>T
NM_022356.4(P3H1):c.941-2A>T
NM_022356.4(P3H1):c.941-3C>T
NM_022356.4(P3H1):c.951T>A (p.Tyr317Ter)
NM_022356.4(P3H1):c.955C>T (p.Gln319Ter)
NM_022356.4(P3H1):c.957G>C (p.Gln319His) rs2124135719
NM_022356.4(P3H1):c.95_99delinsA (p.Met32fs)
NM_022356.4(P3H1):c.961G>A (p.Val321Ile) rs866278783
NM_022356.4(P3H1):c.963T>C (p.Val321=)
NM_022356.4(P3H1):c.971C>T (p.Ala324Val)
NM_022356.4(P3H1):c.987C>T (p.Leu329=)
NM_022356.4(P3H1):c.988T>G (p.Phe330Val)

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