ClinVar Miner

List of variants reported as uncertain significance for Epilepsy, progressive myoclonic, 1B by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105 0.00015
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494 0.00014
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) rs777597253 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys) rs752070986 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455 0.00008
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu) rs781019264 0.00006
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr) rs778075325 0.00006
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) rs141795695 0.00006
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg) rs750904030 0.00006
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val) rs776720321 0.00005
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062 0.00005
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu) rs146199468 0.00005
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala) rs764577468 0.00005
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala) rs528557291 0.00005
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190 0.00004
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996 0.00004
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile) rs374333566 0.00004
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu) rs370892022 0.00004
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) rs370129051 0.00004
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00004
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys) rs768954477 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504 0.00004
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser) rs748766846 0.00003
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261 0.00003
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708 0.00003
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129 0.00003
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125 0.00003
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu) rs142613488 0.00003
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys) rs372213429 0.00003
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met) rs375459191 0.00003
NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln) rs752116352 0.00003
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn) rs773422113 0.00002
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609 0.00002
NM_153026.3(PRICKLE1):c.1639+4C>T rs746747159 0.00002
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp) rs890912439 0.00002
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile) rs1359965296 0.00002
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp) rs749854195 0.00002
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile) rs143947284 0.00002
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) rs751021008 0.00002
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys) rs750226436 0.00002
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) rs201705679 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg) rs376845777 0.00002
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552 0.00002
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) rs1328763941 0.00001
NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp) rs759164554 0.00001
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln) rs577174749 0.00001
NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu) rs1454994864 0.00001
NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly) rs747305137 0.00001
NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln) rs1254082305 0.00001
NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly) rs1466958238 0.00001
NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp) rs1938024539 0.00001
NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly) rs367941464 0.00001
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189 0.00001
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser) rs758787019 0.00001
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296 0.00001
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu) rs776727562 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys) rs751326939 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val) rs552840971 0.00001
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983 0.00001
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg) rs547914367 0.00001
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg) rs768870075 0.00001
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg) rs201054946 0.00001
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) rs796052932 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064 0.00001
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772 0.00001
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser) rs1361111517 0.00001
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953 0.00001
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys) rs1938269718 0.00001
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His) rs1232951000 0.00001
NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser) rs139937830 0.00001
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616 0.00001
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val) rs1194478107 0.00001
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro) rs748173327 0.00001
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His) rs1233536174 0.00001
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) rs189093086 0.00001
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly) rs1937758569 0.00001
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) rs746199700 0.00001
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln) rs779059953 0.00001
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265 0.00001
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys) rs567656128 0.00001
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln) rs1323129125 0.00001
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly) rs778196919 0.00001
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn) rs146670726 0.00001
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp) rs765199745 0.00001
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His) rs796052934 0.00001
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr) rs780823369 0.00001
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088 0.00001
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu) rs1304426627 0.00001
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val) rs1371533275 0.00001
NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln) rs766439768 0.00001
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala) rs201983132 0.00001
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro) rs755590703 0.00001
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr) rs961991320 0.00001
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941 0.00001
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984 0.00001
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe) rs758143303 0.00001
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser) rs1258793726 0.00001
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) rs751791144 0.00001
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met) rs777277493 0.00001
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro) rs771838146 0.00001
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) rs1300341380 0.00001
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys) rs1486749442 0.00001
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr) rs1178731670 0.00001
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro) rs1469737110 0.00001
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148 0.00001
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017 0.00001
NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His) rs780974681 0.00001
NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met) rs1199665357 0.00001
NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp) rs1361958779 0.00001
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000012.11:g.(?_42853611)_(42854487_?)dup
NC_000012.11:g.(?_42853611)_(42866318_?)del
NC_000012.11:g.(?_42853611)_(42866318_?)dup
NC_000012.11:g.(?_42862785)_(42864169_?)del
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) rs139176541
NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)
NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser) rs1938033219
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His) rs1938031733
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)
NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)
NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser) rs1239638305
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg) rs1938026797
NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile) rs2140101481
NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp) rs1938025035
NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln) rs2140101412
NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)
NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys) rs2140101302
NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)
NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His) rs1938022245
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe) rs1261183051
NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe) rs2140101132
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly) rs1938019653
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser) rs1311851345
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro) rs1306531699
NM_153026.3(PRICKLE1):c.132+3dup
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg) rs767486612
NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val) rs146199468
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His) rs1938007089
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr) rs2140100316
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg) rs1937999932
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter) rs1937999343
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup) rs1937998007
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) rs778765052
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp) rs1593113981
NM_153026.3(PRICKLE1):c.1640-14G>A rs2140088689
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro) rs1002543932
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs) rs2140088272
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly) rs1593100814
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn) rs1937785933
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg) rs1937784313
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu) rs1937783195
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg) rs1937780289
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn) rs150809651
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu) rs3747563
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp) rs370129051
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln) rs1937776331
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu) rs750913400
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile) rs2140087105
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs) rs1937772079
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn) rs2140119023
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) rs748173327
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp) rs779314205
NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val) rs1938264291
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val) rs1937760935
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp) rs371991440
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu) rs1937756868
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val) rs925234164
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu) rs779059953
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met) rs1273178828
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del) rs1333451337
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr) rs760738396
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val) rs1180000042
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His) rs1937748497
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro) rs2140085364
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg) rs777019107
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe) rs1937743406
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln) rs776819993
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln) rs2140118839
NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)
NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val) rs2140084269
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu) rs2140084244
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln) rs1342604313
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg) rs1798772229
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp) rs775472022
NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter) rs868235074
NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile) rs1938365238
NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs) rs1938233902
NM_153026.3(PRICKLE1):c.310C>T (p.Arg104Trp)
NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln) rs1938232548
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val) rs1343849513
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs) rs1938228955
NM_153026.3(PRICKLE1):c.384+3G>A rs2140116219
NM_153026.3(PRICKLE1):c.384+6C>A rs764025084
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile) rs1593116403
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser) rs773739764
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr) rs1938205447
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) rs1284958285
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu) rs281865563
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr) rs1938203596
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser) rs1938202392
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe) rs1938200477
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs) rs1938199369
NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn) rs2140113781
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys) rs771717707
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp) rs2140113478
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys) rs759969939
NM_153026.3(PRICKLE1):c.588+5A>C rs1593111486
NM_153026.3(PRICKLE1):c.588+6A>C
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr) rs542029566
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys) rs773561952
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu) rs1457774536
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) rs796052930
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr) rs1938088327
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)
NM_153026.3(PRICKLE1):c.775+3A>G
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)
NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro) rs762434475
NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) rs1555230175
NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu) rs1938042825
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs) rs754532709
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln) rs202205425
NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs) rs1938040051
NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly) rs1046367995
NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu) rs1938037593
NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly) rs1938037090

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