ClinVar Miner

List of variants in gene DIS3L2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP
DIS3L2, 22-KB DEL, EX9DEL
DIS3L2, 82.8-KB DEL, EX6DEL
DIS3L2, IVS19, G-A, +5
NC_000002.11:g.(?_232995329)_(232995429_?)del
NC_000002.11:g.(?_233001172)_(233001439_?)del
NC_000002.11:g.(?_233028149)_(233028362_?)dup
NC_000002.11:g.(?_233028159)_(233028352_?)dup
NC_000002.11:g.(?_233028169)_(233028342_?)dup
NC_000002.11:g.(?_233113939)_(233164839_?)del
NC_000002.11:g.(?_233194513)_(233201350_?)del
NC_000002.11:g.(?_233194513)_(233201350_?)dup
NC_000002.11:g.(?_233194517)_(233198703_?)dup
NC_000002.11:g.(?_233198540)_(233201350_?)del
NC_000002.11:g.(?_233198540)_(233201350_?)dup
NC_000002.11:g.(?_233198544)_(233201346_?)dup
NC_000002.11:g.(?_233200473)_(233201350_?)dup
NM_152383.4(DIS3L2):c.*103A>G rs113002914
NM_152383.4(DIS3L2):c.*111G>A rs886055774
NM_152383.4(DIS3L2):c.*127A>G rs755515971
NM_152383.4(DIS3L2):c.*13G>A rs200467865
NM_152383.4(DIS3L2):c.*208G>A rs886055775
NM_152383.4(DIS3L2):c.*22dupG rs775740747
NM_152383.4(DIS3L2):c.*251C>A rs886055776
NM_152383.4(DIS3L2):c.*255C>T rs143054885
NM_152383.4(DIS3L2):c.*301G>T rs886055778
NM_152383.4(DIS3L2):c.*301dupG rs555818431
NM_152383.4(DIS3L2):c.*361delG rs886055779
NM_152383.4(DIS3L2):c.*551_*554dupATTA rs886055780
NM_152383.4(DIS3L2):c.*558T>C rs143549263
NM_152383.4(DIS3L2):c.*86delT rs373401005
NM_152383.4(DIS3L2):c.-102G>A rs535486739
NM_152383.4(DIS3L2):c.-142T>A rs549994066
NM_152383.4(DIS3L2):c.-229C>T rs886055767
NM_152383.4(DIS3L2):c.-250C>G rs769255550
NM_152383.4(DIS3L2):c.-52A>G rs750961522
NM_152383.4(DIS3L2):c.-58_-54delGAGCT rs886055769
NM_152383.4(DIS3L2):c.-67G>A rs886055768
NM_152383.4(DIS3L2):c.1011A>G (p.Leu337=) rs1553612378
NM_152383.4(DIS3L2):c.1019A>G (p.Tyr340Cys) rs200027186
NM_152383.4(DIS3L2):c.1023C>T (p.Gly341=) rs201122747
NM_152383.4(DIS3L2):c.102C>T (p.Asp34=) rs764957786
NM_152383.4(DIS3L2):c.1033T>C (p.Ser345Pro) rs373488862
NM_152383.4(DIS3L2):c.1056A>G (p.Leu352=) rs1286895716
NM_152383.4(DIS3L2):c.1084A>G (p.Thr362Ala)
NM_152383.4(DIS3L2):c.1085C>A (p.Thr362Lys)
NM_152383.4(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.4(DIS3L2):c.108G>A (p.Lys36=) rs371477071
NM_152383.4(DIS3L2):c.1090C>G (p.Pro364Ala)
NM_152383.4(DIS3L2):c.1097A>C (p.Glu366Ala) rs765929142
NM_152383.4(DIS3L2):c.1099G>A (p.Glu367Lys)
NM_152383.4(DIS3L2):c.1115G>C (p.Arg372Thr) rs1553612391
NM_152383.4(DIS3L2):c.1124+8C>T rs778977139
NM_152383.4(DIS3L2):c.1125-10T>C rs1553536952
NM_152383.4(DIS3L2):c.1125-6T>G rs764758535
NM_152383.4(DIS3L2):c.1126A>G (p.Lys376Glu) rs1559156477
NM_152383.4(DIS3L2):c.1131C>T (p.Asp377=) rs1021555252
NM_152383.4(DIS3L2):c.1135A>G (p.Ile379Val)
NM_152383.4(DIS3L2):c.1158C>T (p.Thr386=) rs539081624
NM_152383.4(DIS3L2):c.1159G>A (p.Ala387Thr)
NM_152383.4(DIS3L2):c.115A>G (p.Asn39Asp)
NM_152383.4(DIS3L2):c.1163G>A (p.Arg388Gln)
NM_152383.4(DIS3L2):c.1170C>T (p.Leu390=) rs17272089
NM_152383.4(DIS3L2):c.1171G>A (p.Asp391Asn)
NM_152383.4(DIS3L2):c.1178C>T (p.Ala393Val)
NM_152383.4(DIS3L2):c.1188C>T (p.Cys396=) rs145607185
NM_152383.4(DIS3L2):c.118A>G (p.Arg40Gly)
NM_152383.4(DIS3L2):c.1192C>T (p.Pro398Ser) rs1559156534
NM_152383.4(DIS3L2):c.1198G>A (p.Ala400Thr) rs1342000775
NM_152383.4(DIS3L2):c.1203C>T (p.Asp401=) rs370165461
NM_152383.4(DIS3L2):c.1204+4G>A rs1268142936
NM_152383.4(DIS3L2):c.1204G>A (p.Gly402Ser)
NM_152383.4(DIS3L2):c.1205-3C>T rs774283939
NM_152383.4(DIS3L2):c.1236C>T (p.Asp412=) rs765535316
NM_152383.4(DIS3L2):c.1237G>A (p.Val413Met) rs1553539253
NM_152383.4(DIS3L2):c.1237G>T (p.Val413Leu)
NM_152383.4(DIS3L2):c.1254G>A (p.Pro418=) rs764213505
NM_152383.4(DIS3L2):c.1258G>A (p.Gly420Arg) rs752118757
NM_152383.4(DIS3L2):c.1277T>G (p.Val426Gly) rs1553539258
NM_152383.4(DIS3L2):c.1278G>A (p.Val426=) rs1488275564
NM_152383.4(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437
NM_152383.4(DIS3L2):c.128G>A (p.Arg43Gln) rs767837521
NM_152383.4(DIS3L2):c.1290G>A (p.Arg430=) rs779790592
NM_152383.4(DIS3L2):c.1294A>G (p.Thr432Ala) rs1553539264
NM_152383.4(DIS3L2):c.1298G>A (p.Ser433Asn) rs1449339410
NM_152383.4(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698
NM_152383.4(DIS3L2):c.1308G>A (p.Leu436=) rs369878019
NM_152383.4(DIS3L2):c.1317+15C>G rs553691050
NM_152383.4(DIS3L2):c.1317+7A>G rs747640827
NM_152383.4(DIS3L2):c.1329G>C (p.Met443Ile)
NM_152383.4(DIS3L2):c.1337G>T (p.Arg446Met) rs369290389
NM_152383.4(DIS3L2):c.1343T>A (p.Leu448Gln)
NM_152383.4(DIS3L2):c.134A>G (p.Lys45Arg)
NM_152383.4(DIS3L2):c.1377C>T (p.Ser459=) rs376722215
NM_152383.4(DIS3L2):c.1378G>A (p.Asp460Asn) rs776359062
NM_152383.4(DIS3L2):c.1385T>C (p.Leu462Pro) rs1415584731
NM_152383.4(DIS3L2):c.1390T>C (p.Phe464Leu) rs199879981
NM_152383.4(DIS3L2):c.1398G>C (p.Val466=) rs762018625
NM_152383.4(DIS3L2):c.1399A>T (p.Ile467Phe) rs1559174475
NM_152383.4(DIS3L2):c.1401C>G (p.Ile467Met) rs767658588
NM_152383.4(DIS3L2):c.1406C>T (p.Thr469Ile)
NM_152383.4(DIS3L2):c.1408C>G (p.Leu470Val)
NM_152383.4(DIS3L2):c.1418A>G (p.Glu473Gly)
NM_152383.4(DIS3L2):c.141G>T (p.Lys47Asn) rs766516846
NM_152383.4(DIS3L2):c.1425+13A>G rs565049855
NM_152383.4(DIS3L2):c.1429C>T (p.Leu477Phe) rs1060503031
NM_152383.4(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374
NM_152383.4(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544
NM_152383.4(DIS3L2):c.1447C>T (p.Arg483Trp)
NM_152383.4(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013
NM_152383.4(DIS3L2):c.1466G>A (p.Cys489Tyr) rs387907116
NM_152383.4(DIS3L2):c.1472A>G (p.Lys491Arg) rs776040852
NM_152383.4(DIS3L2):c.1483G>A (p.Glu495Lys) rs376140965
NM_152383.4(DIS3L2):c.1488T>C (p.His496=) rs72998118
NM_152383.4(DIS3L2):c.1501A>T (p.Ile501Phe) rs1060503036
NM_152383.4(DIS3L2):c.1502T>C (p.Ile501Thr) rs1060503027
NM_152383.4(DIS3L2):c.1507A>T (p.Ser503Cys) rs1388343144
NM_152383.4(DIS3L2):c.1525C>T (p.Pro509Ser) rs191662777
NM_152383.4(DIS3L2):c.1529C>G (p.Ala510Gly)
NM_152383.4(DIS3L2):c.1540C>T (p.Pro514Ser) rs1463177673
NM_152383.4(DIS3L2):c.1543C>G (p.Pro515Ala)
NM_152383.4(DIS3L2):c.1544C>T (p.Pro515Leu) rs756176597
NM_152383.4(DIS3L2):c.1546A>T (p.Ile516Phe)
NM_152383.4(DIS3L2):c.1556_1565del (p.Glu519fs)
NM_152383.4(DIS3L2):c.1564A>G (p.Ser522Gly)
NM_152383.4(DIS3L2):c.1566C>G (p.Ser522Arg)
NM_152383.4(DIS3L2):c.1566C>T (p.Ser522=)
NM_152383.4(DIS3L2):c.1567G>A (p.Glu523Lys) rs745936781
NM_152383.4(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521
NM_152383.4(DIS3L2):c.1577A>G (p.His526Arg)
NM_152383.4(DIS3L2):c.1584C>T (p.Ala528=) rs769018996
NM_152383.4(DIS3L2):c.1585G>A (p.Val529Ile) rs773893129
NM_152383.4(DIS3L2):c.1597C>A (p.His533Asn)
NM_152383.4(DIS3L2):c.1599C>T (p.His533=) rs760229466
NM_152383.4(DIS3L2):c.1600G>A (p.Gly534Arg) rs375517001
NM_152383.4(DIS3L2):c.1609A>G (p.Lys537Glu) rs954655897
NM_152383.4(DIS3L2):c.1610_1617delinsG (p.Lys537fs)
NM_152383.4(DIS3L2):c.1618C>T (p.Arg540Cys) rs573031156
NM_152383.4(DIS3L2):c.1627C>T (p.Arg543Cys)
NM_152383.4(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365
NM_152383.4(DIS3L2):c.1638C>T (p.Asp546=) rs775532734
NM_152383.4(DIS3L2):c.1641C>T (p.Gly547=)
NM_152383.4(DIS3L2):c.1648C>T (p.Arg550Cys)
NM_152383.4(DIS3L2):c.1649G>A (p.Arg550His) rs566287761
NM_152383.4(DIS3L2):c.164C>A (p.Ser55Tyr) rs1439183614
NM_152383.4(DIS3L2):c.1656T>A (p.Asp552Glu) rs1553541570
NM_152383.4(DIS3L2):c.1659+5_1659+7delGTA rs771565872
NM_152383.4(DIS3L2):c.1660-3C>A
NM_152383.4(DIS3L2):c.1660-7T>C rs1553546465
NM_152383.4(DIS3L2):c.1660-8C>G rs373987145
NM_152383.4(DIS3L2):c.1675A>C (p.Thr559Pro) rs755569735
NM_152383.4(DIS3L2):c.167A>G (p.Lys56Arg)
NM_152383.4(DIS3L2):c.1680G>A (p.Leu560=) rs377644356
NM_152383.4(DIS3L2):c.1684C>T (p.His562Tyr) rs748574652
NM_152383.4(DIS3L2):c.1686C>T (p.His562=) rs772512074
NM_152383.4(DIS3L2):c.1693G>A (p.Gly565Arg) rs770702636
NM_152383.4(DIS3L2):c.1695A>T (p.Gly565=) rs961617765
NM_152383.4(DIS3L2):c.1699C>T (p.Pro567Ser)
NM_152383.4(DIS3L2):c.1703A>G (p.Gln568Arg) rs1296826867
NM_152383.4(DIS3L2):c.1707A>G (p.Gly569=) rs776261138
NM_152383.4(DIS3L2):c.1712A>T (p.His571Leu) rs1438379709
NM_152383.4(DIS3L2):c.1721A>C (p.Glu574Ala) rs1553546491
NM_152383.4(DIS3L2):c.1721A>G (p.Glu574Gly) rs1553546491
NM_152383.4(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083
NM_152383.4(DIS3L2):c.1726C>T (p.Arg576Cys) rs374385308
NM_152383.4(DIS3L2):c.1727G>A (p.Arg576His) rs200386096
NM_152383.4(DIS3L2):c.1727_1728delinsCA (p.Arg576Pro) rs1553546498
NM_152383.4(DIS3L2):c.1728C>T (p.Arg576=) rs763819831
NM_152383.4(DIS3L2):c.1729G>A (p.Glu577Lys)
NM_152383.4(DIS3L2):c.172G>C (p.Asp58His) rs1000963300
NM_152383.4(DIS3L2):c.172_173delinsCT (p.Asp58Leu)
NM_152383.4(DIS3L2):c.1737C>T (p.Asn579=) rs370101007
NM_152383.4(DIS3L2):c.1739+10T>C rs1060504802
NM_152383.4(DIS3L2):c.1739+9C>T rs1060504801
NM_152383.4(DIS3L2):c.1740-3C>T rs1553550742
NM_152383.4(DIS3L2):c.1740G>T (p.Lys580Asn) rs555184370
NM_152383.4(DIS3L2):c.1748A>G (p.Glu583Gly) rs1559216105
NM_152383.4(DIS3L2):c.1752G>A (p.Glu584=) rs1375650718
NM_152383.4(DIS3L2):c.1756A>G (p.Met586Val) rs1224235194
NM_152383.4(DIS3L2):c.1769A>G (p.Asn590Ser) rs774192220
NM_152383.4(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146
NM_152383.4(DIS3L2):c.1775C>T (p.Ala592Val) rs753955550
NM_152383.4(DIS3L2):c.1782C>G (p.Ala594=) rs765160562
NM_152383.4(DIS3L2):c.1795C>T (p.Arg599Cys) rs370448481
NM_152383.4(DIS3L2):c.1796G>A (p.Arg599His)
NM_152383.4(DIS3L2):c.1797C>T (p.Arg599=) rs757523875
NM_152383.4(DIS3L2):c.1800C>A (p.Ala600=) rs374119466
NM_152383.4(DIS3L2):c.1800C>T (p.Ala600=) rs374119466
NM_152383.4(DIS3L2):c.1804C>G (p.Pro602Ala) rs1553550758
NM_152383.4(DIS3L2):c.1806C>T (p.Pro602=) rs755655199
NM_152383.4(DIS3L2):c.1807G>A (p.Glu603Lys)
NM_152383.4(DIS3L2):c.1809G>A (p.Glu603=) rs748787779
NM_152383.4(DIS3L2):c.1825C>T (p.Arg609Trp) rs370822831
NM_152383.4(DIS3L2):c.1826G>A (p.Arg609Gln) rs774228906
NM_152383.4(DIS3L2):c.1833C>A (p.Pro611=) rs747955751
NM_152383.4(DIS3L2):c.1835C>T (p.Pro612Leu)
NM_152383.4(DIS3L2):c.1836G>A (p.Pro612=) rs202227137
NM_152383.4(DIS3L2):c.1836G>C (p.Pro612=) rs202227137
NM_152383.4(DIS3L2):c.1836G>T (p.Pro612=) rs202227137
NM_152383.4(DIS3L2):c.1839C>T (p.Pro613=) rs187677159
NM_152383.4(DIS3L2):c.1848G>T (p.Arg616Ser)
NM_152383.4(DIS3L2):c.1851G>C (p.Met617Ile)
NM_152383.4(DIS3L2):c.1855A>G (p.Ser619Gly)
NM_152383.4(DIS3L2):c.1862T>C (p.Leu621Pro)
NM_152383.4(DIS3L2):c.1876G>A (p.Asp626Asn) rs374482102
NM_152383.4(DIS3L2):c.1894G>A (p.Val632Met) rs754433044
NM_152383.4(DIS3L2):c.1907C>T (p.Ser636Phe)
NM_152383.4(DIS3L2):c.1908C>T (p.Ser636=) rs778830625
NM_152383.4(DIS3L2):c.1909G>A (p.Ala637Thr) rs543360422
NM_152383.4(DIS3L2):c.1911A>C (p.Ala637=) rs563679311
NM_152383.4(DIS3L2):c.1911A>G (p.Ala637=) rs563679311
NM_152383.4(DIS3L2):c.1913G>A (p.Gly638Glu)
NM_152383.4(DIS3L2):c.1915G>A (p.Ala639Thr) rs762363254
NM_152383.4(DIS3L2):c.1915G>C (p.Ala639Pro) rs762363254
NM_152383.4(DIS3L2):c.1922A>G (p.Asn641Ser) rs769948942
NM_152383.4(DIS3L2):c.1923+3G>A rs763148451
NM_152383.4(DIS3L2):c.1923T>C (p.Asn641=) rs775814377
NM_152383.4(DIS3L2):c.1924-1G>T
NM_152383.4(DIS3L2):c.1924-3T>C rs768575329
NM_152383.4(DIS3L2):c.1932G>C (p.Leu644=) rs1553550908
NM_152383.4(DIS3L2):c.1935C>A (p.Thr645=) rs754195941
NM_152383.4(DIS3L2):c.1935C>T (p.Thr645=) rs754195941
NM_152383.4(DIS3L2):c.1945G>A (p.Gly649Arg) rs1274927583
NM_152383.4(DIS3L2):c.1954A>G (p.Lys652Glu) rs1553550922
NM_152383.4(DIS3L2):c.1969C>T (p.Arg657Cys) rs113330536
NM_152383.4(DIS3L2):c.1977G>A (p.Glu659=) rs1553550932
NM_152383.4(DIS3L2):c.1978G>A (p.Val660Met)
NM_152383.4(DIS3L2):c.1989C>A (p.Asn663Lys)
NM_152383.4(DIS3L2):c.1991T>A (p.Met664Lys) rs1553550935
NM_152383.4(DIS3L2):c.1994G>A (p.Cys665Tyr) rs778990530
NM_152383.4(DIS3L2):c.1A>T (p.Met1Leu)
NM_152383.4(DIS3L2):c.2000G>A (p.Arg667Gln) rs1060503034
NM_152383.4(DIS3L2):c.2005A>G (p.Met669Val) rs1553550940
NM_152383.4(DIS3L2):c.2010+10G>T rs771412088
NM_152383.4(DIS3L2):c.2010+8G>A rs202229172
NM_152383.4(DIS3L2):c.2011-1G>C rs1060503037
NM_152383.4(DIS3L2):c.2011-4G>T rs767597086
NM_152383.4(DIS3L2):c.2011-9G>A rs773963007
NM_152383.4(DIS3L2):c.2011A>G (p.Met671Val) rs1553551554
NM_152383.4(DIS3L2):c.2013G>A (p.Met671Ile)
NM_152383.4(DIS3L2):c.2020T>C (p.Tyr674His) rs1559219089
NM_152383.4(DIS3L2):c.2030C>T (p.Ser677Leu) rs753558985
NM_152383.4(DIS3L2):c.2031G>A (p.Ser677=) rs370261055
NM_152383.4(DIS3L2):c.2036T>C (p.Leu679Pro) rs777508887
NM_152383.4(DIS3L2):c.2040G>T (p.Leu680=) rs751823544
NM_152383.4(DIS3L2):c.2051C>T (p.Ala684Val)
NM_152383.4(DIS3L2):c.2059C>T (p.Arg687Trp) rs372762400
NM_152383.4(DIS3L2):c.2060G>A (p.Arg687Gln) rs749596505
NM_152383.4(DIS3L2):c.2065T>C (p.Tyr689His) rs1060503039
NM_152383.4(DIS3L2):c.2066A>G (p.Tyr689Cys)
NM_152383.4(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144
NM_152383.4(DIS3L2):c.2068G>A (p.Ala690Thr) rs916866725
NM_152383.4(DIS3L2):c.2070G>A (p.Ala690=) rs761434540
NM_152383.4(DIS3L2):c.2073C>T (p.Leu691=) rs1413182287
NM_152383.4(DIS3L2):c.2076T>G (p.Asn692Lys) rs767082193
NM_152383.4(DIS3L2):c.2077G>A (p.Val693Met) rs1553551585
NM_152383.4(DIS3L2):c.2078T>C (p.Val693Ala) rs1559219168
NM_152383.4(DIS3L2):c.2079G>T (p.Val693=) rs772840869
NM_152383.4(DIS3L2):c.2080C>T (p.Pro694Ser) rs886055771
NM_152383.4(DIS3L2):c.210+10A>G rs201117797
NM_152383.4(DIS3L2):c.210+10_210+17dupATCTACTG rs1553601267
NM_152383.4(DIS3L2):c.210G>C (p.Gln70His) rs1236280328
NM_152383.4(DIS3L2):c.211-9delG rs752596889
NM_152383.4(DIS3L2):c.2119G>A (p.Ala707Thr)
NM_152383.4(DIS3L2):c.2124C>T (p.Asp708=) rs368518323
NM_152383.4(DIS3L2):c.2125G>A (p.Val709Ile)
NM_152383.4(DIS3L2):c.2125G>C (p.Val709Leu) rs199537907
NM_152383.4(DIS3L2):c.2136C>A (p.His712Gln) rs566391334
NM_152383.4(DIS3L2):c.2137C>T (p.Arg713Cys)
NM_152383.4(DIS3L2):c.2151C>T (p.Ala717=) rs747739911
NM_152383.4(DIS3L2):c.2152G>A (p.Ala718Thr)
NM_152383.4(DIS3L2):c.2154G>A (p.Ala718=) rs371733417
NM_152383.4(DIS3L2):c.2158+3G>A
NM_152383.4(DIS3L2):c.2158G>C (p.Gly720Arg)
NM_152383.4(DIS3L2):c.2159-7T>C rs368022190
NM_152383.4(DIS3L2):c.2162A>G (p.Tyr721Cys) rs371864654
NM_152383.4(DIS3L2):c.2163T>C (p.Tyr721=) rs376478058
NM_152383.4(DIS3L2):c.2167G>A (p.Glu723Lys)
NM_152383.4(DIS3L2):c.2171G>A (p.Arg724Gln)
NM_152383.4(DIS3L2):c.2179A>G (p.Met727Val) rs1060503030
NM_152383.4(DIS3L2):c.2181G>A (p.Met727Ile) rs1553551756
NM_152383.4(DIS3L2):c.2183C>T (p.Ala728Val) rs753952840
NM_152383.4(DIS3L2):c.2187C>T (p.Pro729=) rs75782436
NM_152383.4(DIS3L2):c.218T>G (p.Leu73Trp)
NM_152383.4(DIS3L2):c.2192C>A (p.Thr731Asn) rs1553551762
NM_152383.4(DIS3L2):c.2194C>G (p.Leu732Val) rs1215542783
NM_152383.4(DIS3L2):c.2204A>G (p.Gln735Arg) rs746574719
NM_152383.4(DIS3L2):c.2205G>A (p.Gln735=) rs549582540
NM_152383.4(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125
NM_152383.4(DIS3L2):c.2208G>A (p.Ala736=) rs745361985
NM_152383.4(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733
NM_152383.4(DIS3L2):c.2212C>G (p.His738Asp) rs1553551779
NM_152383.4(DIS3L2):c.2227C>T (p.Arg743Cys) rs765865656
NM_152383.4(DIS3L2):c.2229C>T (p.Arg743=) rs1350662445
NM_152383.4(DIS3L2):c.222A>C (p.Arg74Ser) rs1553601861
NM_152383.4(DIS3L2):c.2233G>A (p.Ala745Thr) rs758837060
NM_152383.4(DIS3L2):c.2234C>T (p.Ala745Val)
NM_152383.4(DIS3L2):c.2235G>A (p.Ala745=) rs751938833
NM_152383.4(DIS3L2):c.2242C>T (p.Arg748Cys) rs372560799
NM_152383.4(DIS3L2):c.2243_2248delinsACATGA (p.Arg748_Gln750delinsHisMetLys) rs1553551794
NM_152383.4(DIS3L2):c.2244C>T (p.Arg748=) rs745415974
NM_152383.4(DIS3L2):c.2245G>A (p.Val749Met) rs755574750
NM_152383.4(DIS3L2):c.2253G>A (p.Glu751=) rs896293028
NM_152383.4(DIS3L2):c.2254C>T (p.Leu752Phe) rs1559219861
NM_152383.4(DIS3L2):c.2266C>G (p.Leu756Val) rs1226765433
NM_152383.4(DIS3L2):c.2269T>C (p.Phe757Leu) rs1298748971
NM_152383.4(DIS3L2):c.2270del (p.Phe757fs) rs878855224
NM_152383.4(DIS3L2):c.2277T>C (p.Ala759=) rs2678530
NM_152383.4(DIS3L2):c.2277_2278inv (p.Val760Ile)
NM_152383.4(DIS3L2):c.2290-5delT rs1553551847
NM_152383.4(DIS3L2):c.2295T>C (p.Ser765=) rs763103187
NM_152383.4(DIS3L2):c.2309C>T (p.Ser770Leu) rs1553551852
NM_152383.4(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798
NM_152383.4(DIS3L2):c.2349C>T (p.Asp783=) rs377740097
NM_152383.4(DIS3L2):c.2356G>A (p.Val786Met) rs569638131
NM_152383.4(DIS3L2):c.2356G>T (p.Val786Leu) rs569638131
NM_152383.4(DIS3L2):c.2357_2377delinsGACGCCGT (p.Val786fs)
NM_152383.4(DIS3L2):c.2362C>T (p.Arg788Cys)
NM_152383.4(DIS3L2):c.2363G>A (p.Arg788His)
NM_152383.4(DIS3L2):c.2367C>T (p.Tyr789=) rs770189518
NM_152383.4(DIS3L2):c.2368G>A (p.Gly790Ser)
NM_152383.4(DIS3L2):c.2370C>T (p.Gly790=) rs199541622
NM_152383.4(DIS3L2):c.2371G>A (p.Val791Met) rs374080052
NM_152383.4(DIS3L2):c.2379_2380GC[1] (p.Arg794fs) rs1553551874
NM_152383.4(DIS3L2):c.237G>A (p.Lys79=) rs373861286
NM_152383.4(DIS3L2):c.2381G>A (p.Arg794His)
NM_152383.4(DIS3L2):c.2394+7G>A rs372069869
NM_152383.4(DIS3L2):c.2394+9C>T rs766054545
NM_152383.4(DIS3L2):c.2394C>T (p.Asn798=) rs773602107
NM_152383.4(DIS3L2):c.2395G>T (p.Ala799Ser)
NM_152383.4(DIS3L2):c.2401G>A (p.Ala801Thr) rs1359847466
NM_152383.4(DIS3L2):c.2402C>A (p.Ala801Asp)
NM_152383.4(DIS3L2):c.2404C>T (p.Leu802=) rs1553552076
NM_152383.4(DIS3L2):c.2407C>T (p.Arg803Trp) rs866926882
NM_152383.4(DIS3L2):c.2408G>A (p.Arg803Gln) rs764157950
NM_152383.4(DIS3L2):c.2409G>T (p.Arg803=) rs148106618
NM_152383.4(DIS3L2):c.2413C>T (p.His805Tyr)
NM_152383.4(DIS3L2):c.2417_2418del (p.His806fs) rs1559220906
NM_152383.4(DIS3L2):c.2421C>G (p.Phe807Leu) rs757128931
NM_152383.4(DIS3L2):c.2424G>A (p.Gln808=) rs369113667
NM_152383.4(DIS3L2):c.2425A>C (p.Lys809Gln) rs1060503032
NM_152383.4(DIS3L2):c.2425_2427del (p.Lys809del)
NM_152383.4(DIS3L2):c.2426A>G (p.Lys809Arg) rs775531488
NM_152383.4(DIS3L2):c.2428G>A (p.Val810Met) rs1553552092
NM_152383.4(DIS3L2):c.2436G>A (p.Lys812=) rs878855225
NM_152383.4(DIS3L2):c.2441C>T (p.Pro814Leu)
NM_152383.4(DIS3L2):c.2450C>T (p.Thr817Met) rs376816858
NM_152383.4(DIS3L2):c.2455G>A (p.Val819Ile)
NM_152383.4(DIS3L2):c.2476G>C (p.Glu826Gln)
NM_152383.4(DIS3L2):c.2485C>T (p.Pro829Ser) rs1275058351
NM_152383.4(DIS3L2):c.2496+10C>T rs1553552123
NM_152383.4(DIS3L2):c.2500A>G (p.Ile834Val)
NM_152383.4(DIS3L2):c.2503A>G (p.Thr835Ala) rs1060503035
NM_152383.4(DIS3L2):c.2504C>G (p.Thr835Ser) rs1559221632
NM_152383.4(DIS3L2):c.2518G>A (p.Val840Met)
NM_152383.4(DIS3L2):c.2539G>C (p.Glu847Gln)
NM_152383.4(DIS3L2):c.2551C>T (p.Leu851Phe) rs1060503033
NM_152383.4(DIS3L2):c.2556G>C (p.Lys852Asn)
NM_152383.4(DIS3L2):c.2559C>T (p.Tyr853=) rs764331420
NM_152383.4(DIS3L2):c.2560A>G (p.Ser854Gly)
NM_152383.4(DIS3L2):c.2560A>T (p.Ser854Cys) rs774490217
NM_152383.4(DIS3L2):c.2563G>A (p.Ala855Thr) rs547016377
NM_152383.4(DIS3L2):c.2576G>C (p.Arg859Pro) rs570999208
NM_152383.4(DIS3L2):c.2585C>T (p.Thr862Ile) rs778725551
NM_152383.4(DIS3L2):c.2588A>G (p.Gln863Arg) rs777191235
NM_152383.4(DIS3L2):c.2590G>A (p.Gly864Ser) rs1487969643
NM_152383.4(DIS3L2):c.2591G>A (p.Gly864Asp) rs746507960
NM_152383.4(DIS3L2):c.2592C>T (p.Gly864=) rs376585486
NM_152383.4(DIS3L2):c.2593C>T (p.His865Tyr) rs1559221737
NM_152383.4(DIS3L2):c.2605G>A (p.Glu869Lys) rs369664231
NM_152383.4(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407
NM_152383.4(DIS3L2):c.2608_2610del (p.Lys870del) rs779485524
NM_152383.4(DIS3L2):c.2611_2613GAG[3] (p.Glu874del) rs745307654
NM_152383.4(DIS3L2):c.2611_2613GAG[5] (p.Glu874dup) rs745307654
NM_152383.4(DIS3L2):c.2620_2621inv (p.Glu874Ser)
NM_152383.4(DIS3L2):c.2628C>T (p.Asp876=) rs760111036
NM_152383.4(DIS3L2):c.2629G>C (p.Gly877Arg)
NM_152383.4(DIS3L2):c.2630G>A (p.Gly877Asp)
NM_152383.4(DIS3L2):c.2637C>T (p.Pro879=) rs376299829
NM_152383.4(DIS3L2):c.2638G>A (p.Glu880Lys)
NM_152383.4(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499
NM_152383.4(DIS3L2):c.264+3A>G
NM_152383.4(DIS3L2):c.264+9A>C rs745443608
NM_152383.4(DIS3L2):c.264+9A>T rs745443608
NM_152383.4(DIS3L2):c.2646A>G (p.Ser882=) rs3811578
NM_152383.4(DIS3L2):c.2649C>G (p.Ser883Arg) rs1553552367
NM_152383.4(DIS3L2):c.265-15C>A rs114804860
NM_152383.4(DIS3L2):c.280A>G (p.Ile94Val)
NM_152383.4(DIS3L2):c.286A>G (p.Ile96Val)
NM_152383.4(DIS3L2):c.301G>T (p.Ala101Ser) rs199857926
NM_152383.4(DIS3L2):c.305G>A (p.Arg102His)
NM_152383.4(DIS3L2):c.305G>C (p.Arg102Pro) rs372013568
NM_152383.4(DIS3L2):c.309T>C (p.Asn103=) rs774819151
NM_152383.4(DIS3L2):c.31C>T (p.Arg11Trp)
NM_152383.4(DIS3L2):c.327T>A (p.Asp109Glu) rs1559555044
NM_152383.4(DIS3L2):c.32G>A (p.Arg11Gln)
NM_152383.4(DIS3L2):c.336C>T (p.Val112=) rs755653632
NM_152383.4(DIS3L2):c.33_34delinsAA (p.Pro12Thr) rs1559542257
NM_152383.4(DIS3L2):c.34C>T (p.Pro12Ser) rs723044
NM_152383.4(DIS3L2):c.351C>T (p.Pro117=) rs141249322
NM_152383.4(DIS3L2):c.352G>A (p.Glu118Lys)
NM_152383.4(DIS3L2):c.366+9A>T rs878855226
NM_152383.4(DIS3L2):c.371T>C (p.Val124Ala)
NM_152383.4(DIS3L2):c.376C>T (p.Pro126Ser) rs1553606103
NM_152383.4(DIS3L2):c.383G>A (p.Ser128Asn)
NM_152383.4(DIS3L2):c.386A>G (p.Asn129Ser)
NM_152383.4(DIS3L2):c.405T>C (p.Ala135=) rs1553606112
NM_152383.4(DIS3L2):c.407C>T (p.Ala136Val)
NM_152383.4(DIS3L2):c.408G>A (p.Ala136=) rs149344471
NM_152383.4(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073
NM_152383.4(DIS3L2):c.414A>G (p.Glu138=) rs1553606113
NM_152383.4(DIS3L2):c.418G>T (p.Asp140Tyr)
NM_152383.4(DIS3L2):c.419A>G (p.Asp140Gly) rs367831290
NM_152383.4(DIS3L2):c.424C>A (p.Pro142Thr) rs878855227
NM_152383.4(DIS3L2):c.426C>T (p.Pro142=) rs73001172
NM_152383.4(DIS3L2):c.43A>G (p.Thr15Ala) rs1559542316
NM_152383.4(DIS3L2):c.453G>A (p.Pro151=) rs567611268
NM_152383.4(DIS3L2):c.456A>G (p.Gln152=) rs11887184
NM_152383.4(DIS3L2):c.461C>T (p.Ser154Phe)
NM_152383.4(DIS3L2):c.469A>G (p.Ser157Gly) rs1553606121
NM_152383.4(DIS3L2):c.484C>A (p.Pro162Thr) rs1478569468
NM_152383.4(DIS3L2):c.485C>T (p.Pro162Leu)
NM_152383.4(DIS3L2):c.491_514del (p.Val164_Asp171del) rs1553606124
NM_152383.4(DIS3L2):c.49A>G (p.Arg17Gly)
NM_152383.4(DIS3L2):c.502G>T (p.Ala168Ser) rs1553606126
NM_152383.4(DIS3L2):c.519C>T (p.Ser173=) rs143680532
NM_152383.4(DIS3L2):c.520G>A (p.Asp174Asn)
NM_152383.4(DIS3L2):c.524C>T (p.Ser175Leu) rs1559615265
NM_152383.4(DIS3L2):c.540C>T (p.Gly180=) rs369500890
NM_152383.4(DIS3L2):c.542T>C (p.Ile181Thr) rs1060503029
NM_152383.4(DIS3L2):c.558G>C (p.Leu186=) rs780991652
NM_152383.4(DIS3L2):c.563A>T (p.Asp188Val) rs1553606133
NM_152383.4(DIS3L2):c.565G>A (p.Gly189Ser) rs1553606137
NM_152383.4(DIS3L2):c.566G>C (p.Gly189Ala)
NM_152383.4(DIS3L2):c.566G>T (p.Gly189Val) rs755258805
NM_152383.4(DIS3L2):c.587G>A (p.Cys196Tyr) rs1559615449
NM_152383.4(DIS3L2):c.594T>A (p.Ser198=) rs1189527107
NM_152383.4(DIS3L2):c.607G>C (p.Glu203Gln)
NM_152383.4(DIS3L2):c.620C>T (p.Ala207Val) rs1553609835
NM_152383.4(DIS3L2):c.623C>A (p.Pro208Gln)
NM_152383.4(DIS3L2):c.623C>T (p.Pro208Leu) rs1022276697
NM_152383.4(DIS3L2):c.639G>T (p.Glu213Asp) rs1553609842
NM_152383.4(DIS3L2):c.642C>G (p.Thr214=) rs1055806361
NM_152383.4(DIS3L2):c.64G>C (p.Val22Leu) rs183463487
NM_152383.4(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526
NM_152383.4(DIS3L2):c.666A>C (p.Arg222Ser) rs751721861
NM_152383.4(DIS3L2):c.674C>T (p.Ser225Leu) rs201453807
NM_152383.4(DIS3L2):c.675G>A (p.Ser225=) rs756569370
NM_152383.4(DIS3L2):c.67G>C (p.Ala23Pro) rs886288172
NM_152383.4(DIS3L2):c.685C>G (p.Leu229Val) rs73003124
NM_152383.4(DIS3L2):c.690A>G (p.Gln230=)
NM_152383.4(DIS3L2):c.695C>T (p.Ser232Leu)
NM_152383.4(DIS3L2):c.700A>G (p.Lys234Glu)
NM_152383.4(DIS3L2):c.702+10T>G rs184764939
NM_152383.4(DIS3L2):c.702+4A>G rs1057445
NM_152383.4(DIS3L2):c.703-9T>C rs1451942425
NM_152383.4(DIS3L2):c.712A>G (p.Ile238Val) rs774656238
NM_152383.4(DIS3L2):c.723A>G (p.Lys241=) rs1553610349
NM_152383.4(DIS3L2):c.733C>T (p.Arg245Ter)
NM_152383.4(DIS3L2):c.738A>G (p.Ala246=) rs781622806
NM_152383.4(DIS3L2):c.742A>G (p.Thr248Ala)
NM_152383.4(DIS3L2):c.763G>A (p.Ala255Thr)
NM_152383.4(DIS3L2):c.777C>A (p.Ser259Arg)
NM_152383.4(DIS3L2):c.777C>G (p.Ser259Arg)
NM_152383.4(DIS3L2):c.778G>A (p.Glu260Lys)
NM_152383.4(DIS3L2):c.781C>T (p.Leu261=) rs1553610364
NM_152383.4(DIS3L2):c.783G>A (p.Leu261=) rs367638559
NM_152383.4(DIS3L2):c.786T>A (p.Phe262Leu)
NM_152383.4(DIS3L2):c.795C>T (p.Tyr265=) rs202042951
NM_152383.4(DIS3L2):c.799_800del (p.Leu267fs) rs1553610371
NM_152383.4(DIS3L2):c.79G>C (p.Asp27His) rs780747005
NM_152383.4(DIS3L2):c.821G>A (p.Arg274Gln)
NM_152383.4(DIS3L2):c.830G>A (p.Arg277Lys)
NM_152383.4(DIS3L2):c.849G>A (p.Lys283=)
NM_152383.4(DIS3L2):c.854G>A (p.Cys285Tyr)
NM_152383.4(DIS3L2):c.85G>C (p.Gly29Arg)
NM_152383.4(DIS3L2):c.860A>C (p.Gln287Pro)
NM_152383.4(DIS3L2):c.86G>A (p.Gly29Asp) rs369080386
NM_152383.4(DIS3L2):c.86G>T (p.Gly29Val)
NM_152383.4(DIS3L2):c.871G>A (p.Ala291Thr) rs753115829
NM_152383.4(DIS3L2):c.871G>C (p.Ala291Pro) rs753115829
NM_152383.4(DIS3L2):c.874C>A (p.Arg292=) rs182004457
NM_152383.4(DIS3L2):c.874C>T (p.Arg292Trp) rs182004457
NM_152383.4(DIS3L2):c.878C>A (p.Pro293His) rs187563594
NM_152383.4(DIS3L2):c.880A>G (p.Lys294Glu) rs570981537
NM_152383.4(DIS3L2):c.905T>A (p.Ile302Asn) rs1268735648
NM_152383.4(DIS3L2):c.910C>T (p.Arg304Cys) rs149157216
NM_152383.4(DIS3L2):c.916_950+7dup
NM_152383.4(DIS3L2):c.919G>C (p.Asp307His) rs780127954
NM_152383.4(DIS3L2):c.927_929GGA[1] (p.Glu310del)
NM_152383.4(DIS3L2):c.928G>A (p.Glu310Lys) rs1276016923
NM_152383.4(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759
NM_152383.4(DIS3L2):c.933C>G (p.Asp311Glu)
NM_152383.4(DIS3L2):c.938A>G (p.Asn313Ser) rs768529345
NM_152383.4(DIS3L2):c.943G>T (p.Ala315Ser)
NM_152383.4(DIS3L2):c.950+5G>T
NM_152383.4(DIS3L2):c.951-6C>G rs1322713450
NM_152383.4(DIS3L2):c.951-8A>G rs886055770
NM_152383.4(DIS3L2):c.951-?_1124+?del
NM_152383.4(DIS3L2):c.953A>G (p.Gln318Arg) rs1060503038
NM_152383.4(DIS3L2):c.961A>G (p.Lys321Glu)
NM_152383.4(DIS3L2):c.963G>A (p.Lys321=) rs368863176
NM_152383.4(DIS3L2):c.964A>G (p.Ser322Gly)
NM_152383.4(DIS3L2):c.965G>T (p.Ser322Ile) rs1553612374
NM_152383.4(DIS3L2):c.973C>A (p.Gln325Lys)
NM_152383.4(DIS3L2):c.981T>C (p.Gly327=) rs372569875
NM_152383.4(DIS3L2):c.994G>C (p.Glu332Gln)

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