ClinVar Miner

List of variants reported as likely benign for Perlman syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 804
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.*558T>C rs143549263 0.01498
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_152383.5(DIS3L2):c.-78C>T rs114491317 0.00288
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) rs199541622 0.00242
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521 0.00147
NM_001257281.2(DIS3L2):c.1587C>T (p.Asn529=) rs556095213 0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) rs563679311 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152383.5(DIS3L2):c.783G>A (p.Leu261=) rs367638559 0.00046
NM_152383.5(DIS3L2):c.702+4A>G rs1057445 0.00039
NM_152383.5(DIS3L2):c.1205-13C>T rs116327839 0.00038
NM_152383.5(DIS3L2):c.2367C>T (p.Tyr789=) rs770189518 0.00026
NM_152383.5(DIS3L2):c.2394+16G>A rs565580392 0.00017
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=) rs369113667 0.00016
NM_152383.5(DIS3L2):c.2031G>A (p.Ser677=) rs370261055 0.00014
NM_152383.5(DIS3L2):c.690A>G (p.Gln230=) rs747395729 0.00014
NM_152383.5(DIS3L2):c.963G>A (p.Lys321=) rs368863176 0.00014
NM_152383.5(DIS3L2):c.351C>T (p.Pro117=) rs141249322 0.00013
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=) rs370165461 0.00011
NM_152383.5(DIS3L2):c.1308G>A (p.Leu436=) rs369878019 0.00011
NM_152383.5(DIS3L2):c.1599C>T (p.His533=) rs760229466 0.00011
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) rs371477071 0.00010
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=) rs368518323 0.00010
NM_152383.5(DIS3L2):c.1923T>C (p.Asn641=) rs775814377 0.00009
NM_152383.5(DIS3L2):c.2010+19C>T rs369487522 0.00009
NM_152383.5(DIS3L2):c.210+10A>G rs201117797 0.00009
NM_152383.5(DIS3L2):c.1023C>T (p.Gly341=) rs201122747 0.00008
NM_152383.5(DIS3L2):c.1205-12G>A rs779551518 0.00008
NM_152383.5(DIS3L2):c.2277T>C (p.Ala759=) rs2678530 0.00008
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=) rs778830625 0.00007
NM_152383.5(DIS3L2):c.2010+16C>T rs777027364 0.00007
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_152383.5(DIS3L2):c.2562C>T (p.Ser854=) rs183452571 0.00007
NM_001257281.2(DIS3L2):c.1644T>C (p.Asp548=) rs142369101 0.00006
NM_152383.5(DIS3L2):c.1638C>T (p.Asp546=) rs775532734 0.00006
NM_152383.5(DIS3L2):c.2298C>A (p.Gly766=) rs774880708 0.00006
NM_152383.5(DIS3L2):c.2394+10C>T rs776202407 0.00006
NM_152383.5(DIS3L2):c.2569C>T (p.Leu857=) rs750511176 0.00006
NM_152383.5(DIS3L2):c.1125-6T>G rs764758535 0.00005
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) rs539081624 0.00005
NM_152383.5(DIS3L2):c.1686C>T (p.His562=) rs772512074 0.00005
NM_152383.5(DIS3L2):c.1924-3T>C rs768575329 0.00005
NM_152383.5(DIS3L2):c.2159-7T>C rs368022190 0.00005
NM_152383.5(DIS3L2):c.2220C>T (p.Asn740=) rs375946584 0.00005
NM_152383.5(DIS3L2):c.2497-15C>T rs778656004 0.00005
NM_152383.5(DIS3L2):c.1224T>A (p.Val408=) rs375321385 0.00004
NM_152383.5(DIS3L2):c.1425+14C>T rs1376398773 0.00004
NM_152383.5(DIS3L2):c.1426-8C>T rs771377892 0.00004
NM_152383.5(DIS3L2):c.1584C>T (p.Ala528=) rs769018996 0.00004
NM_152383.5(DIS3L2):c.211-9del rs752596889 0.00004
NM_152383.5(DIS3L2):c.2349C>T (p.Asp783=) rs377740097 0.00004
NM_152383.5(DIS3L2):c.2394+9C>T rs766054545 0.00004
NM_152383.5(DIS3L2):c.2395-17T>C rs550860283 0.00004
NM_152383.5(DIS3L2):c.2472C>T (p.Asp824=) rs1466092273 0.00004
NM_152383.5(DIS3L2):c.2497-18C>T rs767785777 0.00004
NM_152383.5(DIS3L2):c.53-19T>C rs368468992 0.00004
NM_152383.5(DIS3L2):c.601+13C>T rs1156655716 0.00004
NM_152383.5(DIS3L2):c.729T>C (p.His243=) rs371095624 0.00004
NM_152383.5(DIS3L2):c.738A>G (p.Ala246=) rs781622806 0.00004
NM_152383.5(DIS3L2):c.945C>T (p.Ala315=) rs747141045 0.00004
NM_152383.5(DIS3L2):c.120G>A (p.Arg40=) rs1191453850 0.00003
NM_152383.5(DIS3L2):c.1530G>A (p.Ala510=) rs368059860 0.00003
NM_152383.5(DIS3L2):c.1660-8C>G rs373987145 0.00003
NM_152383.5(DIS3L2):c.1797C>T (p.Arg599=) rs757523875 0.00003
NM_152383.5(DIS3L2):c.1806C>T (p.Pro602=) rs755655199 0.00003
NM_152383.5(DIS3L2):c.1923+16G>A rs762295893 0.00003
NM_152383.5(DIS3L2):c.2011-4G>A rs767597086 0.00003
NM_152383.5(DIS3L2):c.2175A>G (p.Leu725=) rs369726529 0.00003
NM_152383.5(DIS3L2):c.2563G>A (p.Ala855Thr) rs547016377 0.00003
NM_152383.5(DIS3L2):c.2592C>T (p.Gly864=) rs376585486 0.00003
NM_152383.5(DIS3L2):c.360T>C (p.His120=) rs748055073 0.00003
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=) rs567611268 0.00003
NM_152383.5(DIS3L2):c.981T>C (p.Gly327=) rs372569875 0.00003
NM_152383.5(DIS3L2):c.102C>T (p.Asp34=) rs764957786 0.00002
NM_152383.5(DIS3L2):c.1131C>T (p.Asp377=) rs1021555252 0.00002
NM_152383.5(DIS3L2):c.1197C>T (p.Leu399=) rs758998342 0.00002
NM_152383.5(DIS3L2):c.1204+12A>G rs367857302 0.00002
NM_152383.5(DIS3L2):c.1204+18A>G rs762357262 0.00002
NM_152383.5(DIS3L2):c.1204+4G>A rs1268142936 0.00002
NM_152383.5(DIS3L2):c.1290G>A (p.Arg430=) rs779790592 0.00002
NM_152383.5(DIS3L2):c.1299C>T (p.Ser433=) rs752632643 0.00002
NM_152383.5(DIS3L2):c.1314A>G (p.Gln438=) rs962928333 0.00002
NM_152383.5(DIS3L2):c.1377C>T (p.Ser459=) rs376722215 0.00002
NM_152383.5(DIS3L2):c.1398G>C (p.Val466=) rs762018625 0.00002
NM_152383.5(DIS3L2):c.1659+11G>T rs768909060 0.00002
NM_152383.5(DIS3L2):c.1659+8C>T rs780562553 0.00002
NM_152383.5(DIS3L2):c.1692C>T (p.Thr564=) rs746593311 0.00002
NM_152383.5(DIS3L2):c.1881G>A (p.Gln627=) rs1339574893 0.00002
NM_152383.5(DIS3L2):c.1923+9T>C rs764211533 0.00002
NM_152383.5(DIS3L2):c.2115C>T (p.Arg705=) rs1695852636 0.00002
NM_152383.5(DIS3L2):c.2127C>T (p.Val709=) rs374731090 0.00002
NM_152383.5(DIS3L2):c.2154G>A (p.Ala718=) rs371733417 0.00002
NM_152383.5(DIS3L2):c.2184G>A (p.Ala728=) rs755587493 0.00002
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125 0.00002
NM_152383.5(DIS3L2):c.2208G>A (p.Ala736=) rs745361985 0.00002
NM_152383.5(DIS3L2):c.2242C>T (p.Arg748Cys) rs372560799 0.00002
NM_152383.5(DIS3L2):c.2559C>T (p.Tyr853=) rs764331420 0.00002
NM_152383.5(DIS3L2):c.264+9A>T rs745443608 0.00002
NM_152383.5(DIS3L2):c.309T>C (p.Asn103=) rs774819151 0.00002
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=) rs143680532 0.00002
NM_152383.5(DIS3L2):c.531T>C (p.Asp177=) rs763988869 0.00002
NM_152383.5(DIS3L2):c.564T>C (p.Asp188=) rs754063211 0.00002
NM_152383.5(DIS3L2):c.703-19A>G rs746514811 0.00002
NM_152383.5(DIS3L2):c.849G>A (p.Lys283=) rs376763206 0.00002
NM_152383.5(DIS3L2):c.1005A>C (p.Gly335=) rs1690715687 0.00001
NM_152383.5(DIS3L2):c.1038T>C (p.Asp346=) rs1471958029 0.00001
NM_152383.5(DIS3L2):c.1056A>G (p.Leu352=) rs1286895716 0.00001
NM_152383.5(DIS3L2):c.1116G>A (p.Arg372=) rs755028564 0.00001
NM_152383.5(DIS3L2):c.1124+19T>G rs758184418 0.00001
NM_152383.5(DIS3L2):c.1124+9C>G rs752481346 0.00001
NM_152383.5(DIS3L2):c.1125-9C>G rs759150840 0.00001
NM_152383.5(DIS3L2):c.1179C>T (p.Ala393=) rs866354906 0.00001
NM_152383.5(DIS3L2):c.1185C>T (p.Ser395=) rs1692154512 0.00001
NM_152383.5(DIS3L2):c.1204+6A>G rs1225197358 0.00001
NM_152383.5(DIS3L2):c.1205-3C>T rs774283939 0.00001
NM_152383.5(DIS3L2):c.1205-6T>G rs768013602 0.00001
NM_152383.5(DIS3L2):c.1233T>C (p.Ala411=) rs760365010 0.00001
NM_152383.5(DIS3L2):c.1236C>T (p.Asp412=) rs765535316 0.00001
NM_152383.5(DIS3L2):c.1254G>A (p.Pro418=) rs764213505 0.00001
NM_152383.5(DIS3L2):c.1317+15C>G rs553691050 0.00001
NM_152383.5(DIS3L2):c.1318-11T>C rs754223196 0.00001
NM_152383.5(DIS3L2):c.1318-13G>A rs552476989 0.00001
NM_152383.5(DIS3L2):c.1318-8A>G rs1335724236 0.00001
NM_152383.5(DIS3L2):c.1365C>T (p.Leu455=) rs372050550 0.00001
NM_152383.5(DIS3L2):c.1389C>A (p.Thr463=) rs1331534721 0.00001
NM_152383.5(DIS3L2):c.1425+13A>G rs565049855 0.00001
NM_152383.5(DIS3L2):c.1426-19A>G rs971831360 0.00001
NM_152383.5(DIS3L2):c.1482C>T (p.Tyr494=) rs755989747 0.00001
NM_152383.5(DIS3L2):c.1524C>A (p.Ile508=) rs777135465 0.00001
NM_152383.5(DIS3L2):c.1527T>C (p.Pro509=) rs770279827 0.00001
NM_152383.5(DIS3L2):c.1566C>T (p.Ser522=) rs374299868 0.00001
NM_152383.5(DIS3L2):c.1641C>T (p.Gly547=) rs762905765 0.00001
NM_152383.5(DIS3L2):c.1659+9G>A rs749750342 0.00001
NM_152383.5(DIS3L2):c.1695A>T (p.Gly565=) rs961617765 0.00001
NM_152383.5(DIS3L2):c.1728C>T (p.Arg576=) rs763819831 0.00001
NM_152383.5(DIS3L2):c.1737C>T (p.Asn579=) rs370101007 0.00001
NM_152383.5(DIS3L2):c.1739+13G>C rs1166671365 0.00001
NM_152383.5(DIS3L2):c.1739+9C>T rs1060504801 0.00001
NM_152383.5(DIS3L2):c.1761C>T (p.Leu587=) rs1695681583 0.00001
NM_152383.5(DIS3L2):c.1800C>A (p.Ala600=) rs374119466 0.00001
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=) rs748787779 0.00001
NM_152383.5(DIS3L2):c.1830C>T (p.His610=) rs1419155757 0.00001
NM_152383.5(DIS3L2):c.1893C>T (p.Pro631=) rs539154783 0.00001
NM_152383.5(DIS3L2):c.1923+17A>G rs768058159 0.00001
NM_152383.5(DIS3L2):c.1923+20C>T rs750805478 0.00001
NM_152383.5(DIS3L2):c.1924-7C>T rs190022435 0.00001
NM_152383.5(DIS3L2):c.1941A>T (p.Thr647=) rs752187005 0.00001
NM_152383.5(DIS3L2):c.1968C>T (p.Ala656=) rs751457588 0.00001
NM_152383.5(DIS3L2):c.2010+10G>T rs771412088 0.00001
NM_152383.5(DIS3L2):c.2010+8G>A rs202229172 0.00001
NM_152383.5(DIS3L2):c.2011-5C>T rs761378912 0.00001
NM_152383.5(DIS3L2):c.2011-9G>A rs773963007 0.00001
NM_152383.5(DIS3L2):c.2038C>T (p.Leu680=) rs1258690881 0.00001
NM_152383.5(DIS3L2):c.2040G>T (p.Leu680=) rs751823544 0.00001
NM_152383.5(DIS3L2):c.2043G>A (p.Gln681=) rs1695848085 0.00001
NM_152383.5(DIS3L2):c.2046C>T (p.Asp682=) rs1256357226 0.00001
NM_152383.5(DIS3L2):c.2049A>G (p.Pro683=) rs757277629 0.00001
NM_152383.5(DIS3L2):c.2052G>A (p.Ala684=) rs529468340 0.00001
NM_152383.5(DIS3L2):c.2070G>A (p.Ala690=) rs761434540 0.00001
NM_152383.5(DIS3L2):c.2073C>T (p.Leu691=) rs1413182287 0.00001
NM_152383.5(DIS3L2):c.2076T>C (p.Asn692=) rs767082193 0.00001
NM_152383.5(DIS3L2):c.2079G>T (p.Val693=) rs772840869 0.00001
NM_152383.5(DIS3L2):c.2082C>T (p.Pro694=) rs370635828 0.00001
NM_152383.5(DIS3L2):c.2103G>A (p.Ser701=) rs766200831 0.00001
NM_152383.5(DIS3L2):c.211-16A>T rs754036208 0.00001
NM_152383.5(DIS3L2):c.2121C>T (p.Ala707=) rs375195374 0.00001
NM_152383.5(DIS3L2):c.2143C>T (p.Leu715=) rs1433045270 0.00001
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=) rs747739911 0.00001
NM_152383.5(DIS3L2):c.2158+15C>T rs770930869 0.00001
NM_152383.5(DIS3L2):c.2158+16G>A rs776381890 0.00001
NM_152383.5(DIS3L2):c.2158+19G>C rs1695856057 0.00001
NM_152383.5(DIS3L2):c.2158+3G>A rs1302355159 0.00001
NM_152383.5(DIS3L2):c.2163T>C (p.Tyr721=) rs376478058 0.00001
NM_152383.5(DIS3L2):c.2199G>A (p.Gln733=) rs1463349893 0.00001
NM_152383.5(DIS3L2):c.2205G>A (p.Gln735=) rs549582540 0.00001
NM_152383.5(DIS3L2):c.2229C>T (p.Arg743=) rs1350662445 0.00001
NM_152383.5(DIS3L2):c.2235G>A (p.Ala745=) rs751938833 0.00001
NM_152383.5(DIS3L2):c.2238C>G (p.Ser746=) rs1447642559 0.00001
NM_152383.5(DIS3L2):c.2253G>A (p.Glu751=) rs896293028 0.00001
NM_152383.5(DIS3L2):c.2283G>T (p.Leu761=) rs771083881 0.00001
NM_152383.5(DIS3L2):c.2289+7C>T rs759695597 0.00001
NM_152383.5(DIS3L2):c.2290-4G>A rs1466719461 0.00001
NM_152383.5(DIS3L2):c.2313A>G (p.Glu771=) rs767862018 0.00001
NM_152383.5(DIS3L2):c.2328C>T (p.Gly776=) rs1338791997 0.00001
NM_152383.5(DIS3L2):c.2346C>T (p.Phe782=) rs375456340 0.00001
NM_152383.5(DIS3L2):c.237G>A (p.Lys79=) rs373861286 0.00001
NM_152383.5(DIS3L2):c.2394+20C>A rs1158362941 0.00001
NM_152383.5(DIS3L2):c.2394+8C>T rs1256421325 0.00001
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=) rs773602107 0.00001
NM_152383.5(DIS3L2):c.2395-13G>A rs374738789 0.00001
NM_152383.5(DIS3L2):c.2395-20G>A rs1695922684 0.00001
NM_152383.5(DIS3L2):c.2442G>A (p.Pro814=) rs1053320017 0.00001
NM_152383.5(DIS3L2):c.2451G>A (p.Thr817=) rs1477139581 0.00001
NM_152383.5(DIS3L2):c.2469G>A (p.Glu823=) rs1168703711 0.00001
NM_152383.5(DIS3L2):c.2478G>A (p.Glu826=) rs1329169462 0.00001
NM_152383.5(DIS3L2):c.2496+11C>T rs1320560452 0.00001
NM_152383.5(DIS3L2):c.2496+16T>C rs1695927974 0.00001
NM_152383.5(DIS3L2):c.2497-12_2497-4del rs754362082 0.00001
NM_152383.5(DIS3L2):c.2497-17G>A rs1314814594 0.00001
NM_152383.5(DIS3L2):c.2577G>T (p.Arg859=) rs1204124642 0.00001
NM_152383.5(DIS3L2):c.2586C>T (p.Thr862=) rs747872311 0.00001
NM_152383.5(DIS3L2):c.261C>T (p.Ser87=) rs377020708 0.00001
NM_152383.5(DIS3L2):c.2628C>T (p.Asp876=) rs760111036 0.00001
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=) rs376299829 0.00001
NM_152383.5(DIS3L2):c.264+18A>G rs769166298 0.00001
NM_152383.5(DIS3L2):c.264+20A>G rs373728819 0.00001
NM_152383.5(DIS3L2):c.264+9A>C rs745443608 0.00001
NM_152383.5(DIS3L2):c.265-7A>G rs1389776500 0.00001
NM_152383.5(DIS3L2):c.288T>C (p.Ile96=) rs746032745 0.00001
NM_152383.5(DIS3L2):c.336C>T (p.Val112=) rs755653632 0.00001
NM_152383.5(DIS3L2):c.366+16C>T rs758294049 0.00001
NM_152383.5(DIS3L2):c.366+9A>T rs878855226 0.00001
NM_152383.5(DIS3L2):c.369A>G (p.Val123=) rs1696697176 0.00001
NM_152383.5(DIS3L2):c.408G>A (p.Ala136=) rs149344471 0.00001
NM_152383.5(DIS3L2):c.423C>T (p.Ile141=) rs1574864680 0.00001
NM_152383.5(DIS3L2):c.459G>A (p.Gln153=) rs1229357325 0.00001
NM_152383.5(DIS3L2):c.540C>T (p.Gly180=) rs369500890 0.00001
NM_152383.5(DIS3L2):c.594T>A (p.Ser198=) rs1189527107 0.00001
NM_152383.5(DIS3L2):c.602-16T>C rs376643772 0.00001
NM_152383.5(DIS3L2):c.624G>A (p.Pro208=) rs773100809 0.00001
NM_152383.5(DIS3L2):c.630A>G (p.Thr210=) rs968594468 0.00001
NM_152383.5(DIS3L2):c.672A>G (p.Leu224=) rs1303097181 0.00001
NM_152383.5(DIS3L2):c.675G>A (p.Ser225=) rs756569370 0.00001
NM_152383.5(DIS3L2):c.702+11A>G rs752191280 0.00001
NM_152383.5(DIS3L2):c.703-17A>G rs770915716 0.00001
NM_152383.5(DIS3L2):c.703-9T>C rs1451942425 0.00001
NM_152383.5(DIS3L2):c.715T>C (p.Leu239=) rs1306231743 0.00001
NM_152383.5(DIS3L2):c.744C>T (p.Thr248=) rs754258699 0.00001
NM_152383.5(DIS3L2):c.753C>G (p.Leu251=) rs758109640 0.00001
NM_152383.5(DIS3L2):c.798C>T (p.Ala266=) rs1574902461 0.00001
NM_152383.5(DIS3L2):c.858C>G (p.Pro286=) rs765766984 0.00001
NM_152383.5(DIS3L2):c.950+10C>T rs759644979 0.00001
NM_152383.5(DIS3L2):c.950+14G>T rs1340335494 0.00001
NM_152383.5(DIS3L2):c.950+7G>A rs771043528 0.00001
NM_152383.5(DIS3L2):c.951-6C>G rs1322713450 0.00001
NM_152383.5(DIS3L2):c.*11CCGCCTGCC[2] rs538186468
NM_152383.5(DIS3L2):c.*86del rs373401005
NM_152383.5(DIS3L2):c.1011A>C (p.Leu337=)
NM_152383.5(DIS3L2):c.1011A>G (p.Leu337=) rs1553612378
NM_152383.5(DIS3L2):c.1017G>A (p.Glu339=)
NM_152383.5(DIS3L2):c.1020T>C (p.Tyr340=) rs2106377169
NM_152383.5(DIS3L2):c.1032C>T (p.Phe344=) rs2106377192
NM_152383.5(DIS3L2):c.1044T>C (p.Ser348=) rs1574918497
NM_152383.5(DIS3L2):c.1047A>G (p.Ser349=)
NM_152383.5(DIS3L2):c.1059A>G (p.Glu353=)
NM_152383.5(DIS3L2):c.1062T>C (p.Cys354=)
NM_152383.5(DIS3L2):c.1074C>T (p.Gly358=)
NM_152383.5(DIS3L2):c.1075C>T (p.Leu359=) rs2106377249
NM_152383.5(DIS3L2):c.1077G>A (p.Leu359=)
NM_152383.5(DIS3L2):c.1080A>G (p.Pro360=)
NM_152383.5(DIS3L2):c.1089T>C (p.Ile363=) rs1574918534
NM_152383.5(DIS3L2):c.1124+14A>G
NM_152383.5(DIS3L2):c.1124+16C>G
NM_152383.5(DIS3L2):c.1124+20T>A rs1481408352
NM_152383.5(DIS3L2):c.1124+8C>T rs778977139
NM_152383.5(DIS3L2):c.1125-10T>C rs1553536952
NM_152383.5(DIS3L2):c.1125-11C>T rs2106217859
NM_152383.5(DIS3L2):c.1125-13C>T rs2106217852
NM_152383.5(DIS3L2):c.1125-16C>G
NM_152383.5(DIS3L2):c.1125-17T>C
NM_152383.5(DIS3L2):c.1125-17dup rs781608487
NM_152383.5(DIS3L2):c.1125-20G>A
NM_152383.5(DIS3L2):c.1125-6T>C rs764758535
NM_152383.5(DIS3L2):c.1140C>T (p.Phe380=) rs762886185
NM_152383.5(DIS3L2):c.1143C>T (p.Thr381=) rs2106217916
NM_152383.5(DIS3L2):c.1146T>A (p.Ile382=)
NM_152383.5(DIS3L2):c.114G>A (p.Lys38=) rs1694330895
NM_152383.5(DIS3L2):c.1152A>G (p.Pro384=)
NM_152383.5(DIS3L2):c.1161C>T (p.Ala387=)
NM_152383.5(DIS3L2):c.1176T>C (p.Asp392=)
NM_152383.5(DIS3L2):c.1182C>T (p.Leu394=) rs2106218010
NM_152383.5(DIS3L2):c.1194A>G (p.Pro398=) rs2106218027
NM_152383.5(DIS3L2):c.1200T>A (p.Ala400=)
NM_152383.5(DIS3L2):c.1204+12A>T
NM_152383.5(DIS3L2):c.1204+12del rs2106218081
NM_152383.5(DIS3L2):c.1204+14T>A rs2106218089
NM_152383.5(DIS3L2):c.1204+15del rs2106218087
NM_152383.5(DIS3L2):c.1204+16C>T
NM_152383.5(DIS3L2):c.1204+18A>C rs762357262
NM_152383.5(DIS3L2):c.1204+9G>A rs2106218077
NM_152383.5(DIS3L2):c.1205-15C>T rs1692995068
NM_152383.5(DIS3L2):c.1205-16_1205-14del rs1052893310
NM_152383.5(DIS3L2):c.1205-20T>G rs2106252145
NM_152383.5(DIS3L2):c.1205-4A>G
NM_152383.5(DIS3L2):c.1205-7T>C
NM_152383.5(DIS3L2):c.1205-9C>T rs748871003
NM_152383.5(DIS3L2):c.1218G>A (p.Val406=)
NM_152383.5(DIS3L2):c.1218G>C (p.Val406=) rs1574964966
NM_152383.5(DIS3L2):c.1221A>G (p.Gly407=) rs2106252234
NM_152383.5(DIS3L2):c.1227C>T (p.His409=)
NM_152383.5(DIS3L2):c.1251T>A (p.Val417=)
NM_152383.5(DIS3L2):c.1254G>T (p.Pro418=) rs764213505
NM_152383.5(DIS3L2):c.1266T>C (p.Asp422=)
NM_152383.5(DIS3L2):c.1278G>A (p.Val426=) rs1488275564
NM_152383.5(DIS3L2):c.127C>A (p.Arg43=) rs762653147
NM_152383.5(DIS3L2):c.1281T>C (p.Ala427=)
NM_152383.5(DIS3L2):c.1284C>T (p.Ala428=) rs1024557894
NM_152383.5(DIS3L2):c.1296A>G (p.Thr432=)
NM_152383.5(DIS3L2):c.1305C>T (p.Tyr435=) rs2106252386
NM_152383.5(DIS3L2):c.1317+21dup
NM_152383.5(DIS3L2):c.1317+7A>G rs747640827
NM_152383.5(DIS3L2):c.1318-10C>G rs1693350425
NM_152383.5(DIS3L2):c.1318-10C>T
NM_152383.5(DIS3L2):c.1318-15G>A
NM_152383.5(DIS3L2):c.1318-4A>G rs1559174378
NM_152383.5(DIS3L2):c.1318-5T>C rs374740098
NM_152383.5(DIS3L2):c.1318-7T>C rs1208354153
NM_152383.5(DIS3L2):c.1323C>T (p.Val441=)
NM_152383.5(DIS3L2):c.1332T>G (p.Leu444=)
NM_152383.5(DIS3L2):c.1341G>C (p.Leu447=)
NM_152383.5(DIS3L2):c.1344G>A (p.Leu448=)
NM_152383.5(DIS3L2):c.1353G>A (p.Glu451=)
NM_152383.5(DIS3L2):c.1356G>A (p.Leu452=)
NM_152383.5(DIS3L2):c.1401C>A (p.Ile467=)
NM_152383.5(DIS3L2):c.1407A>G (p.Thr469=) rs2106264898
NM_152383.5(DIS3L2):c.1408C>T (p.Leu470=)
NM_152383.5(DIS3L2):c.1416A>G (p.Pro472=) rs1693356802
NM_152383.5(DIS3L2):c.1425+10T>C rs1272928711
NM_152383.5(DIS3L2):c.1425+11dup
NM_152383.5(DIS3L2):c.1425+12C>A rs375630013
NM_152383.5(DIS3L2):c.1425+12C>T
NM_152383.5(DIS3L2):c.1425+14C>A rs1376398773
NM_152383.5(DIS3L2):c.1425+15G>A
NM_152383.5(DIS3L2):c.1425+18_1425+19del
NM_152383.5(DIS3L2):c.1425+7A>G rs372328138
NM_152383.5(DIS3L2):c.1425+8C>A rs978128164
NM_152383.5(DIS3L2):c.1425+8C>G rs978128164
NM_152383.5(DIS3L2):c.1425+9T>C rs2106264955
NM_152383.5(DIS3L2):c.1425+9T>G
NM_152383.5(DIS3L2):c.1426-12C>G
NM_152383.5(DIS3L2):c.1426-14G>A rs760782170
NM_152383.5(DIS3L2):c.1426-14G>C rs760782170
NM_152383.5(DIS3L2):c.1426-15T>G
NM_152383.5(DIS3L2):c.1426-5T>C
NM_152383.5(DIS3L2):c.1428C>A (p.Ile476=)
NM_152383.5(DIS3L2):c.1428C>T (p.Ile476=)
NM_152383.5(DIS3L2):c.1452C>T (p.Thr484=)
NM_152383.5(DIS3L2):c.1461C>T (p.Arg487=)
NM_152383.5(DIS3L2):c.1467C>T (p.Cys489=) rs2106280978
NM_152383.5(DIS3L2):c.1485G>A (p.Glu495=) rs2106281019
NM_152383.5(DIS3L2):c.1503T>C (p.Ile501=) rs1559181262
NM_152383.5(DIS3L2):c.1515T>A (p.Thr505=) rs2106281101
NM_152383.5(DIS3L2):c.1527T>A (p.Pro509=) rs770279827
NM_152383.5(DIS3L2):c.1530G>C (p.Ala510=) rs368059860
NM_152383.5(DIS3L2):c.1536G>A (p.Glu512=)
NM_152383.5(DIS3L2):c.1542C>G (p.Pro514=) rs1559181322
NM_152383.5(DIS3L2):c.1545C>A (p.Pro515=) rs1187281709
NM_152383.5(DIS3L2):c.1545C>G (p.Pro515=) rs1187281709
NM_152383.5(DIS3L2):c.1545C>T (p.Pro515=) rs1187281709
NM_152383.5(DIS3L2):c.1551C>G (p.Ser517=) rs2106281189
NM_152383.5(DIS3L2):c.1557G>A (p.Glu519=) rs2106281211
NM_152383.5(DIS3L2):c.1590G>A (p.Leu530=)
NM_152383.5(DIS3L2):c.1608C>T (p.Ala536=) rs2106281314
NM_152383.5(DIS3L2):c.1617A>G (p.Leu539=)
NM_152383.5(DIS3L2):c.1632T>C (p.Phe544=) rs2106281371
NM_152383.5(DIS3L2):c.1653G>A (p.Leu551=)
NM_152383.5(DIS3L2):c.1659+11_1659+12insC
NM_152383.5(DIS3L2):c.1659+12T>C
NM_152383.5(DIS3L2):c.1659+13T>C
NM_152383.5(DIS3L2):c.1659+19A>C
NM_152383.5(DIS3L2):c.1659+7A>G
NM_152383.5(DIS3L2):c.1660-10C>G rs1488306628
NM_152383.5(DIS3L2):c.1660-12C>G
NM_152383.5(DIS3L2):c.1660-12C>T
NM_152383.5(DIS3L2):c.1660-14C>A
NM_152383.5(DIS3L2):c.1660-14_1660-12del
NM_152383.5(DIS3L2):c.1660-14_1660-13insCC rs1491375548
NM_152383.5(DIS3L2):c.1660-16T>G
NM_152383.5(DIS3L2):c.1660-19C>G
NM_152383.5(DIS3L2):c.1660-7T>C rs1553546465
NM_152383.5(DIS3L2):c.1660-8C>T rs373987145
NM_152383.5(DIS3L2):c.1662A>G (p.Leu554=) rs1694816573
NM_152383.5(DIS3L2):c.1674C>T (p.Phe558=)
NM_152383.5(DIS3L2):c.1678C>T (p.Leu560=)
NM_152383.5(DIS3L2):c.1692C>G (p.Thr564=) rs746593311
NM_152383.5(DIS3L2):c.1698G>A (p.Leu566=) rs867651676
NM_152383.5(DIS3L2):c.1707A>G (p.Gly569=) rs776261138
NM_152383.5(DIS3L2):c.1716C>A (p.Ile572=) rs1694818061
NM_152383.5(DIS3L2):c.1719T>C (p.Tyr573=) rs2106321211
NM_152383.5(DIS3L2):c.171G>A (p.Glu57=) rs2106221782
NM_152383.5(DIS3L2):c.1725C>T (p.Tyr575=) rs1037322892
NM_152383.5(DIS3L2):c.1739+10T>C rs1060504802
NM_152383.5(DIS3L2):c.1739+11C>T
NM_152383.5(DIS3L2):c.1739+14T>A
NM_152383.5(DIS3L2):c.1739+15G>T rs766499656
NM_152383.5(DIS3L2):c.1739+17G>A
NM_152383.5(DIS3L2):c.1739+17G>C rs2106321286
NM_152383.5(DIS3L2):c.1739+19A>T rs2106321290
NM_152383.5(DIS3L2):c.1740-10C>T
NM_152383.5(DIS3L2):c.1740-12C>A
NM_152383.5(DIS3L2):c.1740-12C>T
NM_152383.5(DIS3L2):c.1740-13C>G
NM_152383.5(DIS3L2):c.1740-15A>G
NM_152383.5(DIS3L2):c.1740-15A>T
NM_152383.5(DIS3L2):c.1740-17C>T
NM_152383.5(DIS3L2):c.1740-20A>G
NM_152383.5(DIS3L2):c.1740-34_1740-12del
NM_152383.5(DIS3L2):c.1740-4G>A
NM_152383.5(DIS3L2):c.1740-4G>T
NM_152383.5(DIS3L2):c.1740-9C>T rs1575023221
NM_152383.5(DIS3L2):c.1740-9_1740-3del
NM_152383.5(DIS3L2):c.1743C>G (p.Leu581=)
NM_152383.5(DIS3L2):c.1743C>T (p.Leu581=) rs1277796466
NM_152383.5(DIS3L2):c.1752G>A (p.Glu584=) rs1375650718
NM_152383.5(DIS3L2):c.1764G>A (p.Leu588=)
NM_152383.5(DIS3L2):c.1776A>C (p.Ala592=) rs1303642134
NM_152383.5(DIS3L2):c.1791C>T (p.Ile597=)
NM_152383.5(DIS3L2):c.1794C>T (p.His598=)
NM_152383.5(DIS3L2):c.1800C>T (p.Ala600=) rs374119466
NM_152383.5(DIS3L2):c.1803C>T (p.Phe601=)
NM_152383.5(DIS3L2):c.1806C>G (p.Pro602=) rs755655199
NM_152383.5(DIS3L2):c.180A>G (p.Ser60=) rs1574812848
NM_152383.5(DIS3L2):c.1815C>T (p.Ala605=) rs2106347997
NM_152383.5(DIS3L2):c.1827G>A (p.Arg609=) rs2106348036
NM_152383.5(DIS3L2):c.1833C>A (p.Pro611=) rs747955751
NM_152383.5(DIS3L2):c.1833C>T (p.Pro611=) rs747955751
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.1836G>C (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.1836G>T (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.1845A>G (p.Thr615=)
NM_152383.5(DIS3L2):c.1854C>T (p.Leu618=) rs1695686568
NM_152383.5(DIS3L2):c.1863G>C (p.Leu621=) rs1575023409
NM_152383.5(DIS3L2):c.1869A>G (p.Glu623=) rs2106348135
NM_152383.5(DIS3L2):c.1872C>T (p.Phe624=) rs2106348138
NM_152383.5(DIS3L2):c.1875C>T (p.Cys625=) rs1325832387
NM_152383.5(DIS3L2):c.1887G>A (p.Gly629=)
NM_152383.5(DIS3L2):c.1890G>A (p.Leu630=) rs368877166
NM_152383.5(DIS3L2):c.1890G>C (p.Leu630=)
NM_152383.5(DIS3L2):c.1893C>G (p.Pro631=) rs539154783
NM_152383.5(DIS3L2):c.1896G>A (p.Val632=) rs1460822750
NM_152383.5(DIS3L2):c.1896G>T (p.Val632=)
NM_152383.5(DIS3L2):c.1911A>G (p.Ala637=) rs563679311
NM_152383.5(DIS3L2):c.1920C>T (p.Leu640=) rs1463057159
NM_152383.5(DIS3L2):c.1923+10G>A
NM_152383.5(DIS3L2):c.1923+20C>A
NM_152383.5(DIS3L2):c.1923+3G>A rs763148451
NM_152383.5(DIS3L2):c.1923+7G>A
NM_152383.5(DIS3L2):c.1923+7G>T rs1695689615
NM_152383.5(DIS3L2):c.1924-13G>A
NM_152383.5(DIS3L2):c.1924-5T>C
NM_152383.5(DIS3L2):c.1924-6T>C rs2106349051
NM_152383.5(DIS3L2):c.1924-7C>G
NM_152383.5(DIS3L2):c.1924-8G>C
NM_152383.5(DIS3L2):c.1926A>G (p.Lys642=) rs2106349063
NM_152383.5(DIS3L2):c.1932G>A (p.Leu644=) rs1553550908
NM_152383.5(DIS3L2):c.1932G>C (p.Leu644=) rs1553550908
NM_152383.5(DIS3L2):c.1935C>A (p.Thr645=) rs754195941
NM_152383.5(DIS3L2):c.1935C>T (p.Thr645=) rs754195941
NM_152383.5(DIS3L2):c.1938A>G (p.Gln646=) rs759241431
NM_152383.5(DIS3L2):c.1959C>T (p.Tyr653=) rs2106349110
NM_152383.5(DIS3L2):c.1963C>T (p.Leu655=) rs2106349115
NM_152383.5(DIS3L2):c.1968C>A (p.Ala656=) rs751457588
NM_152383.5(DIS3L2):c.1971C>A (p.Arg657=)
NM_152383.5(DIS3L2):c.1971C>G (p.Arg657=) rs376923957
NM_152383.5(DIS3L2):c.1977G>A (p.Glu659=) rs1553550932
NM_152383.5(DIS3L2):c.1980G>A (p.Val660=) rs2106349143
NM_152383.5(DIS3L2):c.1986C>A (p.Thr662=)
NM_152383.5(DIS3L2):c.1989C>T (p.Asn663=)
NM_152383.5(DIS3L2):c.2004C>A (p.Pro668=) rs1559216843
NM_152383.5(DIS3L2):c.2004C>T (p.Pro668=) rs1559216843
NM_152383.5(DIS3L2):c.2010+12C>G rs2106349195
NM_152383.5(DIS3L2):c.2010+16C>A rs777027364
NM_152383.5(DIS3L2):c.2010+17C>A
NM_152383.5(DIS3L2):c.2010+19C>G
NM_152383.5(DIS3L2):c.2010+19del
NM_152383.5(DIS3L2):c.2011-10C>T
NM_152383.5(DIS3L2):c.2011-11C>G
NM_152383.5(DIS3L2):c.2011-12C>T rs775010464
NM_152383.5(DIS3L2):c.2011-13T>C
NM_152383.5(DIS3L2):c.2011-15C>G rs1397324144
NM_152383.5(DIS3L2):c.2011-16C>G
NM_152383.5(DIS3L2):c.2011-4G>C rs767597086
NM_152383.5(DIS3L2):c.2011-4G>T rs767597086
NM_152383.5(DIS3L2):c.2011-7C>T
NM_152383.5(DIS3L2):c.2011-9G>C rs773963007
NM_152383.5(DIS3L2):c.2017C>T (p.Leu673=) rs1202069699
NM_152383.5(DIS3L2):c.2019G>A (p.Leu673=)
NM_152383.5(DIS3L2):c.2025C>T (p.Phe675=) rs766258976
NM_152383.5(DIS3L2):c.2031G>C (p.Ser677=) rs370261055
NM_152383.5(DIS3L2):c.2034G>A (p.Gly678=)
NM_152383.5(DIS3L2):c.2034G>T (p.Gly678=) rs1575027216
NM_152383.5(DIS3L2):c.204C>T (p.Leu68=) rs2106221863
NM_152383.5(DIS3L2):c.2052G>T (p.Ala684=) rs529468340
NM_152383.5(DIS3L2):c.2055G>A (p.Gln685=) rs2106353484
NM_152383.5(DIS3L2):c.2058C>T (p.Phe686=) rs1418053471
NM_152383.5(DIS3L2):c.2061G>T (p.Arg687=) rs1575027251
NM_152383.5(DIS3L2):c.2064C>T (p.His688=) rs1343991695
NM_152383.5(DIS3L2):c.2083C>T (p.Leu695=)
NM_152383.5(DIS3L2):c.2088C>T (p.Tyr696=)
NM_152383.5(DIS3L2):c.2091A>C (p.Thr697=) rs1482558818
NM_152383.5(DIS3L2):c.2091A>G (p.Thr697=) rs1482558818
NM_152383.5(DIS3L2):c.2094C>T (p.His698=)
NM_152383.5(DIS3L2):c.210+10_210+17dup rs1553601267
NM_152383.5(DIS3L2):c.210+12C>A rs1694334866
NM_152383.5(DIS3L2):c.210+14_210+16dup rs929991353
NM_152383.5(DIS3L2):c.210+17G>C
NM_152383.5(DIS3L2):c.210+18G>A
NM_152383.5(DIS3L2):c.2103G>C (p.Ser701=) rs766200831
NM_152383.5(DIS3L2):c.2106C>A (p.Pro702=) rs1575027317
NM_152383.5(DIS3L2):c.2106C>T (p.Pro702=) rs1575027317
NM_152383.5(DIS3L2):c.2109C>A (p.Ile703=)
NM_152383.5(DIS3L2):c.2109C>T (p.Ile703=) rs1695852333
NM_152383.5(DIS3L2):c.211-12T>C rs2106232806
NM_152383.5(DIS3L2):c.211-14T>C rs2106232797
NM_152383.5(DIS3L2):c.211-15T>C rs2106232794
NM_152383.5(DIS3L2):c.211-16A>G
NM_152383.5(DIS3L2):c.2115C>G (p.Arg705=)
NM_152383.5(DIS3L2):c.2139C>T (p.Arg713=)
NM_152383.5(DIS3L2):c.213T>C (p.Gly71=) rs2106232820
NM_152383.5(DIS3L2):c.2142C>T (p.Leu714=)
NM_152383.5(DIS3L2):c.2151C>A (p.Ala717=)
NM_152383.5(DIS3L2):c.2151C>G (p.Ala717=)
NM_152383.5(DIS3L2):c.2154G>C (p.Ala718=) rs371733417
NM_152383.5(DIS3L2):c.2158+10G>A rs1236274112
NM_152383.5(DIS3L2):c.2158+11_2158+12del rs2106353745
NM_152383.5(DIS3L2):c.2158+13G>C
NM_152383.5(DIS3L2):c.2158+18G>T rs1266101295
NM_152383.5(DIS3L2):c.2158+8G>C
NM_152383.5(DIS3L2):c.2158+8G>T rs1345507679
NM_152383.5(DIS3L2):c.2159-10C>G
NM_152383.5(DIS3L2):c.2159-10C>T rs776635072
NM_152383.5(DIS3L2):c.2159-11C>A rs746549250
NM_152383.5(DIS3L2):c.2159-11C>G rs746549250
NM_152383.5(DIS3L2):c.2159-11C>T rs746549250
NM_152383.5(DIS3L2):c.2159-12C>T
NM_152383.5(DIS3L2):c.2159-13C>G
NM_152383.5(DIS3L2):c.2159-14C>A rs1257820110
NM_152383.5(DIS3L2):c.2159-14C>T rs1257820110
NM_152383.5(DIS3L2):c.2159-18C>A
NM_152383.5(DIS3L2):c.2159-3del
NM_152383.5(DIS3L2):c.2159-5C>T
NM_152383.5(DIS3L2):c.2159-8C>T rs2106354173
NM_152383.5(DIS3L2):c.2159-8_2159-7del rs2106354171
NM_152383.5(DIS3L2):c.2166G>A (p.Arg722=) rs2106354197
NM_152383.5(DIS3L2):c.2169G>A (p.Glu723=) rs2106354203
NM_152383.5(DIS3L2):c.216A>T (p.Val72=)
NM_152383.5(DIS3L2):c.2172A>T (p.Arg724=)
NM_152383.5(DIS3L2):c.2190T>C (p.Asp730=) rs1695872376
NM_152383.5(DIS3L2):c.2194C>T (p.Leu732=) rs1215542783
NM_152383.5(DIS3L2):c.2202A>G (p.Lys734=) rs777580118
NM_152383.5(DIS3L2):c.2214C>T (p.His738=) rs1384219629
NM_152383.5(DIS3L2):c.2217T>C (p.Cys739=) rs1299876151
NM_152383.5(DIS3L2):c.2238C>A (p.Ser746=) rs1447642559
NM_152383.5(DIS3L2):c.2247G>T (p.Val749=) rs2106354376
NM_152383.5(DIS3L2):c.2250G>A (p.Gln750=)
NM_152383.5(DIS3L2):c.2262C>T (p.Thr754=) rs2106354409
NM_152383.5(DIS3L2):c.2265T>C (p.Ser755=)
NM_152383.5(DIS3L2):c.2283G>A (p.Leu761=)
NM_152383.5(DIS3L2):c.2289+10_2289+11insACCTTGACCTTGAC rs1695877931
NM_152383.5(DIS3L2):c.2289+11C>T
NM_152383.5(DIS3L2):c.2289+20G>A
NM_152383.5(DIS3L2):c.2289+20G>T rs2106354485
NM_152383.5(DIS3L2):c.2289+8C>T
NM_152383.5(DIS3L2):c.2290-18G>A rs1189177699
NM_152383.5(DIS3L2):c.2290-4G>C rs1466719461
NM_152383.5(DIS3L2):c.2290-7C>G rs775753096
NM_152383.5(DIS3L2):c.2290-7C>T rs775753096
NM_152383.5(DIS3L2):c.2295T>C (p.Ser765=) rs763103187
NM_152383.5(DIS3L2):c.2298C>T (p.Gly766=) rs774880708
NM_152383.5(DIS3L2):c.2301C>G (p.Pro767=) rs2106354647
NM_152383.5(DIS3L2):c.2307G>A (p.Glu769=)
NM_152383.5(DIS3L2):c.2310A>G (p.Ser770=) rs1575028136
NM_152383.5(DIS3L2):c.2316C>A (p.Ala772=) rs2106354657
NM_152383.5(DIS3L2):c.2316C>T (p.Ala772=) rs2106354657
NM_152383.5(DIS3L2):c.231A>G (p.Pro77=)
NM_152383.5(DIS3L2):c.2331C>A (p.Ile777=) rs2106354676
NM_152383.5(DIS3L2):c.2337G>A (p.Lys779=)
NM_152383.5(DIS3L2):c.2340A>G (p.Gln780=)
NM_152383.5(DIS3L2):c.2352G>A (p.Val784=) rs2106354711
NM_152383.5(DIS3L2):c.2353C>T (p.Leu785=) rs1204393370
NM_152383.5(DIS3L2):c.2355G>A (p.Leu785=) rs2106354724
NM_152383.5(DIS3L2):c.2359C>T (p.Leu787=) rs2106354736
NM_152383.5(DIS3L2):c.2364C>G (p.Arg788=)
NM_152383.5(DIS3L2):c.2364C>T (p.Arg788=)
NM_152383.5(DIS3L2):c.2382C>A (p.Arg794=) rs2106354789
NM_152383.5(DIS3L2):c.2394+10C>G
NM_152383.5(DIS3L2):c.2394+16G>C rs565580392
NM_152383.5(DIS3L2):c.2394+18G>A rs1695885820
NM_152383.5(DIS3L2):c.2394+18G>T
NM_152383.5(DIS3L2):c.2394+21dup rs1431901747
NM_152383.5(DIS3L2):c.2394+3G>A rs760982835
NM_152383.5(DIS3L2):c.2394+7G>A rs372069869
NM_152383.5(DIS3L2):c.2395-12_2395-9dup rs767785090
NM_152383.5(DIS3L2):c.2395-13G>T rs374738789
NM_152383.5(DIS3L2):c.2395-15G>A
NM_152383.5(DIS3L2):c.2395-16G>T rs2106356203
NM_152383.5(DIS3L2):c.2395-18T>G rs1695922747
NM_152383.5(DIS3L2):c.2395-20G>T
NM_152383.5(DIS3L2):c.2395-4C>T
NM_152383.5(DIS3L2):c.2395-6C>A
NM_152383.5(DIS3L2):c.2395-7A>G
NM_152383.5(DIS3L2):c.2395-8C>T rs1412994947
NM_152383.5(DIS3L2):c.2397A>G (p.Ala799=) rs1575029257
NM_152383.5(DIS3L2):c.2400G>T (p.Leu800=) rs2106356239
NM_152383.5(DIS3L2):c.2404C>T (p.Leu802=) rs1553552076
NM_152383.5(DIS3L2):c.2406G>A (p.Leu802=) rs1446187399
NM_152383.5(DIS3L2):c.2407C>A (p.Arg803=) rs866926882
NM_152383.5(DIS3L2):c.2412C>T (p.Ser804=)
NM_152383.5(DIS3L2):c.2415C>T (p.His805=)
NM_152383.5(DIS3L2):c.2418C>T (p.His806=) rs1489015625
NM_152383.5(DIS3L2):c.2427G>A (p.Lys809=) rs1695924758
NM_152383.5(DIS3L2):c.2436G>A (p.Lys812=) rs878855225
NM_152383.5(DIS3L2):c.2439G>A (p.Lys813=)
NM_152383.5(DIS3L2):c.243T>C (p.His81=)
NM_152383.5(DIS3L2):c.2451G>T (p.Thr817=)
NM_152383.5(DIS3L2):c.2463G>A (p.Glu821=) rs1465158382
NM_152383.5(DIS3L2):c.2481G>A (p.Gln827=) rs1695927224
NM_152383.5(DIS3L2):c.2496+10C>G
NM_152383.5(DIS3L2):c.2496+10C>T rs1553552123
NM_152383.5(DIS3L2):c.2496+12T>G
NM_152383.5(DIS3L2):c.2496+15G>T
NM_152383.5(DIS3L2):c.2496+17G>T rs1695928041
NM_152383.5(DIS3L2):c.2496+18T>C rs2106356461
NM_152383.5(DIS3L2):c.2496+19C>T
NM_152383.5(DIS3L2):c.2496+8C>T
NM_152383.5(DIS3L2):c.2497-10C>T
NM_152383.5(DIS3L2):c.2497-14T>C rs1283433476
NM_152383.5(DIS3L2):c.2497-15C>A
NM_152383.5(DIS3L2):c.2497-17_2497-8del
NM_152383.5(DIS3L2):c.2497-5C>A
NM_152383.5(DIS3L2):c.2497-5C>T
NM_152383.5(DIS3L2):c.249C>G (p.Ala83=)
NM_152383.5(DIS3L2):c.2526G>A (p.Val842=)
NM_152383.5(DIS3L2):c.2526G>C (p.Val842=)
NM_152383.5(DIS3L2):c.2532G>A (p.Leu844=) rs1575030040
NM_152383.5(DIS3L2):c.2535G>A (p.Gln845=) rs2106357249
NM_152383.5(DIS3L2):c.2544C>T (p.Ser848=) rs2106357269
NM_152383.5(DIS3L2):c.2553C>G (p.Leu851=)
NM_152383.5(DIS3L2):c.2553C>T (p.Leu851=) rs1008757722
NM_152383.5(DIS3L2):c.2556G>A (p.Lys852=) rs1575030076
NM_152383.5(DIS3L2):c.2571G>A (p.Leu857=) rs1309913496
NM_152383.5(DIS3L2):c.2571G>C (p.Leu857=) rs1309913496
NM_152383.5(DIS3L2):c.2580A>T (p.Pro860=) rs2106357341
NM_152383.5(DIS3L2):c.2583C>G (p.Gly861=)
NM_152383.5(DIS3L2):c.2586C>G (p.Thr862=)
NM_152383.5(DIS3L2):c.2595C>T (p.His865=) rs1695957396
NM_152383.5(DIS3L2):c.2598G>A (p.Leu866=)
NM_152383.5(DIS3L2):c.2604T>G (p.Pro868=)
NM_152383.5(DIS3L2):c.2610G>A (p.Lys870=) rs2106357419
NM_152383.5(DIS3L2):c.2616G>A (p.Glu872=) rs373167034
NM_152383.5(DIS3L2):c.2634G>A (p.Glu878=)
NM_152383.5(DIS3L2):c.2637C>G (p.Pro879=) rs376299829
NM_152383.5(DIS3L2):c.264+13A>C rs2106232935
NM_152383.5(DIS3L2):c.264+15T>C
NM_152383.5(DIS3L2):c.264+3A>G rs1574819848
NM_152383.5(DIS3L2):c.2640G>A (p.Glu880=)
NM_152383.5(DIS3L2):c.2646A>C (p.Ser882=) rs3811578
NM_152383.5(DIS3L2):c.265-10T>C rs755671602
NM_152383.5(DIS3L2):c.265-15C>G
NM_152383.5(DIS3L2):c.265-15C>T
NM_152383.5(DIS3L2):c.265-19A>C rs1694758513
NM_152383.5(DIS3L2):c.265-19A>G rs1694758513
NM_152383.5(DIS3L2):c.265-4C>T
NM_152383.5(DIS3L2):c.265-5C>A rs749251747
NM_152383.5(DIS3L2):c.265-5C>T rs749251747
NM_152383.5(DIS3L2):c.265-9C>T
NM_152383.5(DIS3L2):c.265-9_265-8delinsTT rs2106239656
NM_152383.5(DIS3L2):c.2652C>T (p.Thr884=)
NM_152383.5(DIS3L2):c.2655C>T (p.Ser885=) rs2106357565
NM_152383.5(DIS3L2):c.276A>G (p.Arg92=)
NM_152383.5(DIS3L2):c.27C>T (p.Asn9=) rs2106220732
NM_152383.5(DIS3L2):c.291T>C (p.Asp97=) rs2106239705
NM_152383.5(DIS3L2):c.30C>T (p.Leu10=) rs1170188523
NM_152383.5(DIS3L2):c.31C>A (p.Arg11=)
NM_152383.5(DIS3L2):c.324G>A (p.Gly108=)
NM_152383.5(DIS3L2):c.33G>A (p.Arg11=)
NM_152383.5(DIS3L2):c.351C>G (p.Pro117=) rs141249322
NM_152383.5(DIS3L2):c.354G>A (p.Glu118=) rs2106239880
NM_152383.5(DIS3L2):c.357G>A (p.Glu119=)
NM_152383.5(DIS3L2):c.366+17C>T
NM_152383.5(DIS3L2):c.366+19_366+22del rs2106239934
NM_152383.5(DIS3L2):c.366+9A>G rs878855226
NM_152383.5(DIS3L2):c.367-13C>T
NM_152383.5(DIS3L2):c.367-13_367-12del
NM_152383.5(DIS3L2):c.367-19_367-18del
NM_152383.5(DIS3L2):c.367-7_367-3del rs1696697025
NM_152383.5(DIS3L2):c.36C>G (p.Pro12=) rs770359206
NM_152383.5(DIS3L2):c.36C>T (p.Pro12=)
NM_152383.5(DIS3L2):c.378A>G (p.Pro126=) rs2106309232
NM_152383.5(DIS3L2):c.399A>G (p.Thr133=) rs748428296
NM_152383.5(DIS3L2):c.405T>C (p.Ala135=) rs1553606112
NM_152383.5(DIS3L2):c.408G>C (p.Ala136=) rs149344471
NM_152383.5(DIS3L2):c.408G>T (p.Ala136=) rs149344471
NM_152383.5(DIS3L2):c.414A>G (p.Glu138=) rs1553606113
NM_152383.5(DIS3L2):c.42G>A (p.Gly14=) rs2106220790
NM_152383.5(DIS3L2):c.435C>A (p.Leu145=) rs1574864715
NM_152383.5(DIS3L2):c.435C>T (p.Leu145=) rs1574864715
NM_152383.5(DIS3L2):c.441A>G (p.Gly147=) rs1696700439
NM_152383.5(DIS3L2):c.450C>T (p.Leu150=) rs2106309389
NM_152383.5(DIS3L2):c.453G>C (p.Pro151=) rs567611268
NM_152383.5(DIS3L2):c.453G>T (p.Pro151=) rs567611268
NM_152383.5(DIS3L2):c.480C>T (p.Asp160=) rs1574864779
NM_152383.5(DIS3L2):c.489T>C (p.Asp163=)
NM_152383.5(DIS3L2):c.498A>T (p.Val166=)
NM_152383.5(DIS3L2):c.513T>C (p.Asp171=)
NM_152383.5(DIS3L2):c.52+10G>T rs2106220834
NM_152383.5(DIS3L2):c.52+16T>C
NM_152383.5(DIS3L2):c.52+17G>A rs2106220848
NM_152383.5(DIS3L2):c.52+7A>G
NM_152383.5(DIS3L2):c.525A>C (p.Ser175=)
NM_152383.5(DIS3L2):c.525A>T (p.Ser175=) rs762513924
NM_152383.5(DIS3L2):c.53-11C>T
NM_152383.5(DIS3L2):c.53-13C>G rs2106221478
NM_152383.5(DIS3L2):c.53-15G>A rs1399385539
NM_152383.5(DIS3L2):c.53-16T>C rs774039141
NM_152383.5(DIS3L2):c.53-16T>G
NM_152383.5(DIS3L2):c.53-17C>T
NM_152383.5(DIS3L2):c.53-20T>C rs1445522295
NM_152383.5(DIS3L2):c.53-4C>A rs1559542792
NM_152383.5(DIS3L2):c.53-5T>G
NM_152383.5(DIS3L2):c.53-9T>C rs2106221482
NM_152383.5(DIS3L2):c.546A>G (p.Thr182=) rs757033831
NM_152383.5(DIS3L2):c.549A>G (p.Gln183=) rs1574864879
NM_152383.5(DIS3L2):c.555G>A (p.Val185=) rs2106309635
NM_152383.5(DIS3L2):c.558G>A (p.Leu186=)
NM_152383.5(DIS3L2):c.558G>C (p.Leu186=) rs780991652
NM_152383.5(DIS3L2):c.576A>G (p.Lys192=) rs2106309680
NM_152383.5(DIS3L2):c.579C>A (p.Leu193=)
NM_152383.5(DIS3L2):c.579C>G (p.Leu193=) rs1696706175
NM_152383.5(DIS3L2):c.582A>C (p.Ser194=) rs2106309704
NM_152383.5(DIS3L2):c.582A>T (p.Ser194=)
NM_152383.5(DIS3L2):c.588T>C (p.Cys196=) rs2106309720
NM_152383.5(DIS3L2):c.601+15A>G rs200519492
NM_152383.5(DIS3L2):c.601+19T>C rs2106309767
NM_152383.5(DIS3L2):c.602-14T>C
NM_152383.5(DIS3L2):c.602-15_602-14del rs2106349981
NM_152383.5(DIS3L2):c.602-19_602-16del rs778439768
NM_152383.5(DIS3L2):c.602-4G>A
NM_152383.5(DIS3L2):c.602-9T>C
NM_152383.5(DIS3L2):c.602-9T>G rs773977505
NM_152383.5(DIS3L2):c.63T>G (p.Ala21=) rs1694327880
NM_152383.5(DIS3L2):c.642C>G (p.Thr214=) rs1055806361
NM_152383.5(DIS3L2):c.645C>T (p.Thr215=)
NM_152383.5(DIS3L2):c.660C>T (p.Asp220=)
NM_152383.5(DIS3L2):c.666A>G (p.Arg222=)
NM_152383.5(DIS3L2):c.669T>G (p.Ala223=)
NM_152383.5(DIS3L2):c.66G>A (p.Val22=)
NM_152383.5(DIS3L2):c.678G>A (p.Glu226=) rs2106350142
NM_152383.5(DIS3L2):c.684C>A (p.Ser228=) rs2106350151
NM_152383.5(DIS3L2):c.687G>A (p.Leu229=)
NM_152383.5(DIS3L2):c.702+11A>C
NM_152383.5(DIS3L2):c.702+7G>A rs2106350197
NM_152383.5(DIS3L2):c.702+8C>T
NM_152383.5(DIS3L2):c.703-10G>A rs759420051
NM_152383.5(DIS3L2):c.703-10G>T rs759420051
NM_152383.5(DIS3L2):c.703-13T>G
NM_152383.5(DIS3L2):c.703-15C>G rs1698360624
NM_152383.5(DIS3L2):c.703-17A>T rs770915716
NM_152383.5(DIS3L2):c.703-19A>C
NM_152383.5(DIS3L2):c.703-20T>G
NM_152383.5(DIS3L2):c.705G>T (p.Val235=) rs769440116
NM_152383.5(DIS3L2):c.708T>C (p.Val236=) rs1574902321
NM_152383.5(DIS3L2):c.711C>T (p.Tyr237=) rs2106355255
NM_152383.5(DIS3L2):c.714C>T (p.Ile238=) rs2106355262
NM_152383.5(DIS3L2):c.717G>A (p.Leu239=) rs1698361387
NM_152383.5(DIS3L2):c.723A>G (p.Lys241=) rs1553610349
NM_152383.5(DIS3L2):c.72T>G (p.Gly24=) rs767500228
NM_152383.5(DIS3L2):c.732T>C (p.Ser244=) rs2106355293
NM_152383.5(DIS3L2):c.735A>G (p.Arg245=)
NM_152383.5(DIS3L2):c.741A>C (p.Ala247=)
NM_152383.5(DIS3L2):c.750C>T (p.Phe250=) rs752349220
NM_152383.5(DIS3L2):c.756A>G (p.Lys252=) rs1698362655
NM_152383.5(DIS3L2):c.774C>T (p.Asn258=) rs1574902414
NM_152383.5(DIS3L2):c.777C>T (p.Ser259=) rs375649949
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=) rs2106355380
NM_152383.5(DIS3L2):c.781C>T (p.Leu261=) rs1553610364
NM_152383.5(DIS3L2):c.786T>C (p.Phe262=) rs1033352725
NM_152383.5(DIS3L2):c.792A>G (p.Lys264=)
NM_152383.5(DIS3L2):c.819C>T (p.His273=)
NM_152383.5(DIS3L2):c.829A>C (p.Arg277=) rs1252903119
NM_152383.5(DIS3L2):c.846C>T (p.Leu282=) rs1574902506
NM_152383.5(DIS3L2):c.867T>C (p.Phe289=)
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457
NM_152383.5(DIS3L2):c.897A>C (p.Thr299=) rs745823386
NM_152383.5(DIS3L2):c.909C>T (p.Cys303=) rs933918889
NM_152383.5(DIS3L2):c.90T>C (p.Ala30=) rs2106221608
NM_152383.5(DIS3L2):c.918G>A (p.Val306=)
NM_152383.5(DIS3L2):c.921C>T (p.Asp307=) rs1698368307
NM_152383.5(DIS3L2):c.930G>A (p.Glu310=) rs1698368717
NM_152383.5(DIS3L2):c.933C>T (p.Asp311=) rs1359411191
NM_152383.5(DIS3L2):c.93G>A (p.Ser31=) rs772722191
NM_152383.5(DIS3L2):c.93G>T (p.Ser31=)
NM_152383.5(DIS3L2):c.945C>A (p.Ala315=) rs747141045
NM_152383.5(DIS3L2):c.945C>G (p.Ala315=) rs747141045
NM_152383.5(DIS3L2):c.948G>C (p.Leu316=) rs2106355665
NM_152383.5(DIS3L2):c.950+12C>G
NM_152383.5(DIS3L2):c.950+14G>C
NM_152383.5(DIS3L2):c.950+15G>A rs2106355695
NM_152383.5(DIS3L2):c.950+15G>T rs2106355695
NM_152383.5(DIS3L2):c.950+9T>A rs2106355685
NM_152383.5(DIS3L2):c.951-10C>G rs2106377046
NM_152383.5(DIS3L2):c.951-16_951-9dup
NM_152383.5(DIS3L2):c.951-19G>A
NM_152383.5(DIS3L2):c.951-4A>C rs977493137
NM_152383.5(DIS3L2):c.951-7T>C rs2106377054
NM_152383.5(DIS3L2):c.951-8A>G rs886055770
NM_152383.5(DIS3L2):c.954G>A (p.Gln318=) rs2106377070
NM_152383.5(DIS3L2):c.957G>T (p.Leu319=) rs2106377080
NM_152383.5(DIS3L2):c.975G>A (p.Gln325=) rs1574918434
NM_152383.5(DIS3L2):c.999A>G (p.Thr333=) rs1574918462
NM_152383.5(DIS3L2):c.9T>C (p.His3=)

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