ClinVar Miner

List of variants in gene PRDM8 studied for early-onset Lafora body disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.1980G>C (p.Arg660=) rs12780 0.26373
NM_001099403.2(PRDM8):c.762C>T (p.Ser254=) rs142234659 0.05105
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=) rs28405693 0.04102
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=) rs150632206 0.01930
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) rs188061449 0.01796
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser) rs544862921 0.00503
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln) rs200010979 0.00497
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=) rs144810863 0.00461
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=) rs374280707 0.00420
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555 0.00402
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=) rs755114294 0.00142
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=) rs140737026 0.00121
NM_001099403.2(PRDM8):c.1407G>A (p.Ala469=) rs559035384 0.00075
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) rs201806195 0.00060
NM_001099403.2(PRDM8):c.910G>C (p.Gly304Arg) rs747934880 0.00048
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037 0.00046
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) rs951714195 0.00030
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) rs767560709 0.00026
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=) rs369098269 0.00025
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln) rs562277889 0.00024
NM_001099403.2(PRDM8):c.219+17G>A rs374010085 0.00012
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val) rs1032197214 0.00009
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879 0.00009
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser) rs932918812 0.00009
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) rs574748973 0.00009
NM_001099403.2(PRDM8):c.90C>T (p.Tyr30=) rs767896746 0.00009
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser) rs371675673 0.00008
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) rs762888947 0.00008
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) rs770130991 0.00007
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) rs983217484 0.00006
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn) rs553212056 0.00006
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) rs920460933 0.00006
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) rs1443007613 0.00006
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys) rs769213647 0.00005
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp) rs372824214 0.00005
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr) rs753837771 0.00005
NM_001099403.2(PRDM8):c.2040C>T (p.His680=) rs376730468 0.00005
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala) rs190431626 0.00004
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=) rs1296620793 0.00004
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) rs955890394 0.00004
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) rs1014065137 0.00004
NM_001099403.2(PRDM8):c.1569C>G (p.Leu523=) rs771399439 0.00004
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val) rs760114885 0.00004
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser) rs780056353 0.00004
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His) rs768703640 0.00004
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro) rs750098513 0.00004
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) rs761182081 0.00004
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) rs766078819 0.00004
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val) rs771970888 0.00004
NM_001099403.2(PRDM8):c.750C>G (p.Ala250=) rs1458732519 0.00004
NM_001099403.2(PRDM8):c.774C>T (p.Ser258=) rs1477843578 0.00004
NM_001099403.2(PRDM8):c.885C>T (p.His295=) rs1031517706 0.00004
NM_001099403.2(PRDM8):c.1038G>A (p.Glu346=) rs752840771 0.00003
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg) rs1271340866 0.00003
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp) rs1388275056 0.00003
NM_001099403.2(PRDM8):c.1461C>G (p.Gly487=) rs766926830 0.00003
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val) rs1454069268 0.00003
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg) rs760525459 0.00003
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) rs746174564 0.00003
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) rs749676209 0.00003
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg) rs1223656077 0.00003
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile) rs1030327610 0.00003
NM_001099403.2(PRDM8):c.663A>G (p.Leu221=) rs757742321 0.00003
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly) rs749501319 0.00003
NM_001099403.2(PRDM8):c.918C>T (p.Ala306=) rs777671444 0.00003
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) rs1369436425 0.00002
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr) rs910463955 0.00002
NM_001099403.2(PRDM8):c.1134G>A (p.Thr378=) rs944679589 0.00002
NM_001099403.2(PRDM8):c.1197G>A (p.Gln399=) rs1474812924 0.00002
NM_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys) rs1267354661 0.00002
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) rs756625230 0.00002
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile) rs768596814 0.00002
NM_001099403.2(PRDM8):c.1024C>A (p.Pro342Thr) rs552217106 0.00001
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=) rs1192208565 0.00001
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln) rs1332727339 0.00001
NM_001099403.2(PRDM8):c.1077C>T (p.Gly359=) rs746862284 0.00001
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg) rs1220553796 0.00001
NM_001099403.2(PRDM8):c.1098G>A (p.Glu366=) rs1222924303 0.00001
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser) rs1738596858 0.00001
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) rs775117967 0.00001
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp) rs1402048793 0.00001
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly) rs1320384072 0.00001
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val) rs772463473 0.00001
NM_001099403.2(PRDM8):c.1215C>T (p.Asp405=) rs1560478454 0.00001
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr) rs568061115 0.00001
NM_001099403.2(PRDM8):c.1275C>T (p.Pro425=) rs1738619872 0.00001
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser) rs765881338 0.00001
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val) rs1185570106 0.00001
NM_001099403.2(PRDM8):c.1306C>T (p.Leu436=) rs1321681007 0.00001
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg) rs1393840872 0.00001
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) rs1578265647 0.00001
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly) rs907653529 0.00001
NM_001099403.2(PRDM8):c.1396C>T (p.Leu466=) rs1738640851 0.00001
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp) rs1185771802 0.00001
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr) rs1738641895 0.00001
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) rs1157815573 0.00001
NM_001099403.2(PRDM8):c.1434G>C (p.Thr478=) rs1199927860 0.00001
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys) rs1024569997 0.00001
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser) rs1254406151 0.00001
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu) rs763088636 0.00001
NM_001099403.2(PRDM8):c.159C>T (p.Asp53=) rs1262983903 0.00001
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser) rs866553864 0.00001
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val) rs781679159 0.00001
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514 0.00001
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) rs762557383 0.00001
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) rs776091682 0.00001
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) rs774459714 0.00001
NM_001099403.2(PRDM8):c.1764C>G (p.Ala588=) rs748241828 0.00001
NM_001099403.2(PRDM8):c.1767T>A (p.Ala589=) rs773515375 0.00001
NM_001099403.2(PRDM8):c.1795G>A (p.Gly599Arg) rs1222858653 0.00001
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met) rs1045840735 0.00001
NM_001099403.2(PRDM8):c.1809G>A (p.Leu603=) rs780466301 0.00001
NM_001099403.2(PRDM8):c.1821G>A (p.Ser607=) rs1361333573 0.00001
NM_001099403.2(PRDM8):c.1832T>C (p.Leu611Pro) rs1317721429 0.00001
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser) rs763030062 0.00001
NM_001099403.2(PRDM8):c.1929T>C (p.His643=) rs761518640 0.00001
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495 0.00001
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) rs374015672 0.00001
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) rs200471159 0.00001
NM_001099403.2(PRDM8):c.2043C>T (p.Leu681=) rs758880510 0.00001
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys) rs1272386839 0.00001
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn) rs1274150288 0.00001
NM_001099403.2(PRDM8):c.618C>G (p.Gly206=) rs370541374 0.00001
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His) rs767033532 0.00001
NM_001099403.2(PRDM8):c.660T>C (p.Pro220=) rs747489896 0.00001
NM_001099403.2(PRDM8):c.675C>G (p.Pro225=) rs749054601 0.00001
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly) rs1022510998 0.00001
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys) rs752328279 0.00001
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr) rs750455114 0.00001
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp) rs202018297 0.00001
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr) rs1738548476 0.00001
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr) rs1296298879 0.00001
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205 0.00001
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg) rs768031665 0.00001
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser) rs930461579 0.00001
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) rs756736858 0.00001
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala) rs1487456427 0.00001
NC_000004.11:g.(?_81121235)_(81124686_?)dup
NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=)
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu) rs1236884779
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile)
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile) rs2109879102
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu)
NM_001099403.2(PRDM8):c.1104C>T (p.Gly368=) rs1738591619
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro) rs1449739343
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del) rs2109879206
NM_001099403.2(PRDM8):c.1146G>A (p.Lys382=) rs2109879211
NM_001099403.2(PRDM8):c.1155C>T (p.Ala385=) rs2109879231
NM_001099403.2(PRDM8):c.1158C>T (p.Phe386=)
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala) rs1738600010
NM_001099403.2(PRDM8):c.1167G>C (p.Val389=) rs1276443060
NM_001099403.2(PRDM8):c.1167G>T (p.Val389=)
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del) rs904587436
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn) rs1292648964
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val)
NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=)
NM_001099403.2(PRDM8):c.1200G>A (p.Glu400=) rs2109879321
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_001099403.2(PRDM8):c.1218C>G (p.Gly406=) rs2109879340
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val) rs1199491730
NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=)
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)
NM_001099403.2(PRDM8):c.1233C>G (p.Ser411=) rs2109879360
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu) rs1014511302
NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=)
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1251C>A (p.Gly417=) rs1377717218
NM_001099403.2(PRDM8):c.1260C>G (p.Gly420=)
NM_001099403.2(PRDM8):c.1260C>T (p.Gly420=) rs1738615886
NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro)
NM_001099403.2(PRDM8):c.1272G>A (p.Thr424=) rs1167938560
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del) rs1738619565
NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=)
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) rs979733757
NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=)
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn)
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser) rs1738630893
NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=)
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp) rs1578265647
NM_001099403.2(PRDM8):c.1362T>G (p.Pro454=)
NM_001099403.2(PRDM8):c.1380C>T (p.Phe460=) rs2109879578
NM_001099403.2(PRDM8):c.1392G>T (p.Pro464=)
NM_001099403.2(PRDM8):c.1419C>T (p.Ser473=) rs1738644660
NM_001099403.2(PRDM8):c.1422T>G (p.Gly474=) rs1400958109
NM_001099403.2(PRDM8):c.1428C>A (p.Gly476=)
NM_001099403.2(PRDM8):c.1434G>A (p.Thr478=)
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_001099403.2(PRDM8):c.1437C>A (p.Gly479=) rs904515362
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)
NM_001099403.2(PRDM8):c.1446C>G (p.Ala482=) rs1578265921
NM_001099403.2(PRDM8):c.1446C>T (p.Ala482=) rs1578265921
NM_001099403.2(PRDM8):c.1447G>A (p.Ala483Thr) rs544862921
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp) rs1441323262
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])
NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=)
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr) rs2109880022
NM_001099403.2(PRDM8):c.1611C>G (p.Leu537=)
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser) rs755993425
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro) rs2109880158
NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=)
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val) rs2109875752
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg) rs1414709299
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val) rs559909369
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr) rs867590589
NM_001099403.2(PRDM8):c.1659G>A (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1665G>A (p.Leu555=)
NM_001099403.2(PRDM8):c.1668C>T (p.Asn556=) rs2109880238
NM_001099403.2(PRDM8):c.1671A>G (p.Gly557=) rs1287823085
NM_001099403.2(PRDM8):c.1677C>T (p.Cys559=) rs762021094
NM_001099403.2(PRDM8):c.1680G>A (p.Gly560=)
NM_001099403.2(PRDM8):c.1692C>T (p.Ser564=)
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser) rs866625939
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup) rs756781919
NM_001099403.2(PRDM8):c.1698C>G (p.Gly566=) rs1738695026
NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=)
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile) rs1738703576
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val) rs1325853079
NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=)
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg) rs1738705118
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del) rs750030014
NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=)
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)
NM_001099403.2(PRDM8):c.1767T>C (p.Ala589=) rs773515375
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) rs1480528424
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del) rs1738710271
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup) rs1044242742
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro) rs1461303254
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del) rs755316101
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup) rs1395259146
NM_001099403.2(PRDM8):c.1782G>A (p.Ala594=) rs924936492
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup) rs770253118
NM_001099403.2(PRDM8):c.1788G>C (p.Ala596=) rs752184496
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn) rs1738314211
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1]) rs777876948
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=)
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=)
NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=)
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro)
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser) rs1738732855
NM_001099403.2(PRDM8):c.1875C>T (p.Asn625=)
NM_001099403.2(PRDM8):c.1881C>T (p.Cys627=)
NM_001099403.2(PRDM8):c.1884C>G (p.Ala628=) rs1738733654
NM_001099403.2(PRDM8):c.1897T>G (p.Ser633Ala) rs2109880734
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu) rs1353802596
NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=)
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) rs1578268165
NM_001099403.2(PRDM8):c.1959G>T (p.Ala653=)
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu) rs780244125
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_001099403.2(PRDM8):c.1986A>G (p.Arg662=)
NM_001099403.2(PRDM8):c.2022C>T (p.Ser674=) rs765557090
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp) rs2109880891
NM_001099403.2(PRDM8):c.207G>A (p.Pro69=)
NM_001099403.2(PRDM8):c.219+13T>C
NM_001099403.2(PRDM8):c.219+17G>T
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn) rs768984964
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)
NM_001099403.2(PRDM8):c.564T>C (p.Ser188=)
NM_001099403.2(PRDM8):c.573C>T (p.Asp191=)
NM_001099403.2(PRDM8):c.57A>G (p.Gln19=) rs2109875602
NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys) rs766294833
NM_001099403.2(PRDM8):c.591G>T (p.Val197=)
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp) rs776620537
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp) rs2109878137
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup) rs769029025
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp) rs764059996
NM_001099403.2(PRDM8):c.630A>G (p.Lys210=) rs1738515726
NM_001099403.2(PRDM8):c.633C>T (p.Asp211=)
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup) rs748593482
NM_001099403.2(PRDM8):c.639G>A (p.Gln213=) rs749943042
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys)
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser) rs1738523106
NM_001099403.2(PRDM8):c.666C>T (p.Gly222=)
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_001099403.2(PRDM8):c.687A>G (p.Lys229=)
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu) rs1738530929
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr) rs760107518
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile) rs764408979
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr) rs1330185577
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser) rs1330185577
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys) rs781560136
NM_001099403.2(PRDM8):c.747C>G (p.Ala249=) rs1578263531
NM_001099403.2(PRDM8):c.750C>T (p.Ala250=) rs1458732519
NM_001099403.2(PRDM8):c.761G>C (p.Ser254Thr) rs1738540197
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp)
NM_001099403.2(PRDM8):c.798G>A (p.Arg266=) rs2109878495
NM_001099403.2(PRDM8):c.804G>A (p.Leu268=) rs1279908364
NM_001099403.2(PRDM8):c.81C>T (p.Thr27=)
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2]) rs763199170
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup) rs771118168
NM_001099403.2(PRDM8):c.867C>T (p.Ser289=) rs750918327
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del) rs752636419
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser) rs1738555644
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys) rs1738555862
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln) rs1294279847
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly) rs2109878731
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr) rs1357775685
NM_001099403.2(PRDM8):c.921G>C (p.Thr307=) rs770919711

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