ClinVar Miner

List of variants in gene BICD2 studied for spinal muscular atrophy

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 711
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.1063-111G>C rs56339669 0.26288
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=) rs138300993 0.00118
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys) rs78319441 0.00113
NM_001003800.2(BICD2):c.240+8G>T rs371559371 0.00113
NM_001003800.2(BICD2):c.813C>T (p.Phe271=) rs150389188 0.00086
NM_001003800.2(BICD2):c.240+20C>A rs556051421 0.00083
NM_001003800.2(BICD2):c.72C>G (p.Ala24=) rs545512590 0.00078
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00066
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=) rs151133287 0.00061
NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys) rs201997144 0.00058
NM_001003800.2(BICD2):c.979C>T (p.Pro327Ser) rs147814238 0.00053
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=) rs368860496 0.00044
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001003800.2(BICD2):c.2012C>T (p.Ala671Val) rs200086216 0.00040
NM_001003800.2(BICD2):c.454-7C>G rs186469385 0.00040
NM_001003800.2(BICD2):c.861C>T (p.Asp287=) rs768173580 0.00036
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=) rs200912578 0.00024
NM_001003800.2(BICD2):c.2259-19A>G rs199833926 0.00024
NM_001003800.2(BICD2):c.1069C>T (p.Arg357Trp) rs202119238 0.00022
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) rs200091763 0.00021
NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp) rs189266003 0.00020
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=) rs77530912 0.00017
NM_001003800.2(BICD2):c.1539C>T (p.Ala513=) rs369575401 0.00016
NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly) rs55658812 0.00014
NM_001003800.2(BICD2):c.14C>T (p.Ser5Leu) rs769376640 0.00014
NM_001003800.2(BICD2):c.2544G>A (p.Glu848=) rs533026038 0.00014
NM_001003800.2(BICD2):c.1127C>T (p.Thr376Met) rs200325192 0.00013
NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe) rs199519253 0.00013
NM_001003800.2(BICD2):c.1823C>T (p.Ser608Leu) rs150861652 0.00012
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001003800.2(BICD2):c.1620C>T (p.His540=) rs375331979 0.00011
NM_001003800.2(BICD2):c.1680C>T (p.Gly560=) rs371748461 0.00011
NM_001003800.2(BICD2):c.1692C>T (p.Ala564=) rs199944412 0.00011
NM_001003800.2(BICD2):c.1716C>A (p.Arg572=) rs375060340 0.00011
NM_001003800.2(BICD2):c.1802G>A (p.Gly601Glu) rs573487238 0.00011
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) rs766087023 0.00011
NM_001003800.2(BICD2):c.2514C>T (p.Thr838=) rs144390290 0.00010
NM_001003800.2(BICD2):c.58G>A (p.Glu20Lys) rs780000539 0.00010
NM_001003800.2(BICD2):c.753C>T (p.Arg251=) rs533852054 0.00010
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=) rs761796557 0.00009
NM_001003800.2(BICD2):c.1401C>T (p.His467=) rs144442734 0.00009
NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp) rs201335175 0.00009
NM_001003800.2(BICD2):c.240+10G>T rs976041248 0.00009
NM_001003800.2(BICD2):c.496G>A (p.Asp166Asn) rs376208721 0.00009
NM_001003800.2(BICD2):c.713G>A (p.Arg238Gln) rs201389004 0.00009
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His) rs370118099 0.00008
NM_001003800.2(BICD2):c.2245A>G (p.Met749Val) rs145923602 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001003800.2(BICD2):c.957G>A (p.Thr319=) rs201926954 0.00008
NM_001003800.2(BICD2):c.1738C>T (p.Arg580Trp) rs573861187 0.00007
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn) rs777986224 0.00007
NM_001003800.2(BICD2):c.64C>T (p.Leu22=) rs758212511 0.00007
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile) rs192669216 0.00006
NM_001003800.2(BICD2):c.1742G>A (p.Arg581His) rs201771783 0.00006
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=) rs777813587 0.00006
NM_001003800.2(BICD2):c.2106+9C>G rs750324371 0.00006
NM_001003800.2(BICD2):c.2217C>T (p.Asp739=) rs142140690 0.00006
NM_001003800.2(BICD2):c.2258+18G>C rs376177099 0.00006
NM_001003800.2(BICD2):c.2429G>A (p.Arg810His) rs556905704 0.00006
NM_001003800.2(BICD2):c.378G>A (p.Lys126=) rs374643299 0.00006
NM_001003800.2(BICD2):c.42G>C (p.Val14=) rs564099533 0.00006
NM_001003800.2(BICD2):c.602A>G (p.Asn201Ser) rs201274230 0.00006
NM_001003800.2(BICD2):c.728C>T (p.Ala243Val) rs748997644 0.00006
NM_001003800.2(BICD2):c.981G>A (p.Pro327=) rs200288349 0.00006
NM_001003800.2(BICD2):c.1063-9C>T rs767362616 0.00005
NM_001003800.2(BICD2):c.1369C>T (p.Arg457Cys) rs376220375 0.00005
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg) rs142985475 0.00005
NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp) rs373224610 0.00005
NM_001003800.2(BICD2):c.1932C>T (p.Ala644=) rs201930889 0.00005
NM_001003800.2(BICD2):c.2076G>A (p.Thr692=) rs747808072 0.00005
NM_001003800.2(BICD2):c.2106+17dup rs751046774 0.00005
NM_001003800.2(BICD2):c.2423G>A (p.Arg808His) rs372322527 0.00005
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu) rs575275088 0.00005
NM_001003800.2(BICD2):c.1224A>G (p.Thr408=) rs201939232 0.00004
NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala) rs771432118 0.00004
NM_001003800.2(BICD2):c.1388G>A (p.Arg463His) rs745500617 0.00004
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys) rs1014182946 0.00004
NM_001003800.2(BICD2):c.1446G>A (p.Thr482=) rs370920372 0.00004
NM_001003800.2(BICD2):c.1491G>A (p.Glu497=) rs761926262 0.00004
NM_001003800.2(BICD2):c.150G>A (p.Val50=) rs186133837 0.00004
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser) rs754018322 0.00004
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys) rs748022488 0.00004
NM_001003800.2(BICD2):c.1697G>A (p.Arg566His) rs550312355 0.00004
NM_001003800.2(BICD2):c.1715G>A (p.Arg572His) rs777902159 0.00004
NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys) rs771001231 0.00004
NM_001003800.2(BICD2):c.1962G>A (p.Gln654=) rs746391061 0.00004
NM_001003800.2(BICD2):c.2107-16C>T rs368924457 0.00004
NM_001003800.2(BICD2):c.2319C>T (p.Asp773=) rs370848787 0.00004
NM_001003800.2(BICD2):c.2331G>A (p.Thr777=) rs779170531 0.00004
NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu) rs200341779 0.00004
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu) rs768524403 0.00004
NM_001003800.2(BICD2):c.2469C>T (p.Ser823=) rs199989045 0.00004
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg) rs756910200 0.00004
NM_001003800.2(BICD2):c.2536T>C (p.Cys846Arg) rs760624844 0.00004
NM_001003800.2(BICD2):c.2541C>T (p.Ser847=) rs775345022 0.00004
NM_001003800.2(BICD2):c.285C>T (p.Asp95=) rs770839094 0.00004
NM_001003800.2(BICD2):c.485G>A (p.Arg162His) rs761506224 0.00004
NM_001003800.2(BICD2):c.640C>T (p.Arg214Cys) rs201293367 0.00004
NM_001003800.2(BICD2):c.684T>G (p.Asp228Glu) rs762107122 0.00004
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met) rs148937530 0.00004
NM_001003800.2(BICD2):c.905G>T (p.Gly302Val) rs772599458 0.00004
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met) rs374704553 0.00003
NM_001003800.2(BICD2):c.1203G>T (p.Gln401His) rs752209653 0.00003
NM_001003800.2(BICD2):c.1377G>A (p.Thr459=) rs768159358 0.00003
NM_001003800.2(BICD2):c.1381G>A (p.Glu461Lys) rs142503252 0.00003
NM_001003800.2(BICD2):c.1404C>T (p.Ala468=) rs377002671 0.00003
NM_001003800.2(BICD2):c.1440A>T (p.Ala480=) rs201784829 0.00003
NM_001003800.2(BICD2):c.1659G>A (p.Met553Ile) rs374912668 0.00003
NM_001003800.2(BICD2):c.165C>T (p.His55=) rs150915279 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001003800.2(BICD2):c.1785G>A (p.Ala595=) rs781638617 0.00003
NM_001003800.2(BICD2):c.1878C>T (p.Asn626=) rs748417533 0.00003
NM_001003800.2(BICD2):c.1947G>A (p.Thr649=) rs371647882 0.00003
NM_001003800.2(BICD2):c.1989C>T (p.Pro663=) rs377116071 0.00003
NM_001003800.2(BICD2):c.2106+3G>A rs370179608 0.00003
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser) rs756538071 0.00003
NM_001003800.2(BICD2):c.2265C>T (p.Asp755=) rs751036331 0.00003
NM_001003800.2(BICD2):c.2386C>T (p.Leu796=) rs140205029 0.00003
NM_001003800.2(BICD2):c.2401C>T (p.Leu801=) rs776367463 0.00003
NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser) rs751158467 0.00003
NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala) rs776472510 0.00003
NM_001003800.2(BICD2):c.355C>A (p.Leu119Ile) rs377156663 0.00003
NM_001003800.2(BICD2):c.534G>A (p.Leu178=) rs771215407 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.691C>T (p.Arg231Cys) rs754659441 0.00003
NM_001003800.2(BICD2):c.729G>A (p.Ala243=) rs200066450 0.00003
NM_001003800.2(BICD2):c.793A>G (p.Met265Val) rs779331320 0.00003
NM_001003800.2(BICD2):c.915C>T (p.His305=) rs373858530 0.00003
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala) rs757885234 0.00002
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=) rs184715042 0.00002
NM_001003800.2(BICD2):c.1130G>A (p.Arg377Gln) rs752402307 0.00002
NM_001003800.2(BICD2):c.1341C>T (p.Gly447=) rs750241183 0.00002
NM_001003800.2(BICD2):c.1349G>A (p.Arg450His) rs545926410 0.00002
NM_001003800.2(BICD2):c.1417C>T (p.Arg473Cys) rs142203302 0.00002
NM_001003800.2(BICD2):c.1418G>A (p.Arg473His) rs766539334 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=) rs750614733 0.00002
NM_001003800.2(BICD2):c.1492C>T (p.Leu498=) rs200489354 0.00002
NM_001003800.2(BICD2):c.1534G>A (p.Val512Ile) rs748921807 0.00002
NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg) rs916661191 0.00002
NM_001003800.2(BICD2):c.1805C>T (p.Thr602Met) rs369050350 0.00002
NM_001003800.2(BICD2):c.1963C>T (p.Arg655Cys) rs148287063 0.00002
NM_001003800.2(BICD2):c.1964G>A (p.Arg655His) rs143242735 0.00002
NM_001003800.2(BICD2):c.2112C>T (p.Ala704=) rs767670894 0.00002
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=) rs754249319 0.00002
NM_001003800.2(BICD2):c.2506G>A (p.Glu836Lys) rs779724776 0.00002
NM_001003800.2(BICD2):c.346C>T (p.Arg116Trp) rs767127458 0.00002
NM_001003800.2(BICD2):c.365A>G (p.Gln122Arg) rs1477596230 0.00002
NM_001003800.2(BICD2):c.368C>T (p.Thr123Met) rs372717499 0.00002
NM_001003800.2(BICD2):c.372G>T (p.Glu124Asp) rs1490576971 0.00002
NM_001003800.2(BICD2):c.390T>C (p.Asn130=) rs979012435 0.00002
NM_001003800.2(BICD2):c.405G>A (p.Thr135=) rs746102380 0.00002
NM_001003800.2(BICD2):c.410C>T (p.Ser137Leu) rs779298360 0.00002
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys) rs754493702 0.00002
NM_001003800.2(BICD2):c.546G>A (p.Ser182=) rs770320084 0.00002
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001003800.2(BICD2):c.752G>A (p.Arg251His) rs533199924 0.00002
NM_001003800.2(BICD2):c.803A>G (p.Asn268Ser) rs566510315 0.00002
NM_001003800.2(BICD2):c.849C>G (p.Leu283=) rs757409146 0.00002
NM_001003800.2(BICD2):c.991A>G (p.Ser331Gly) rs775155214 0.00002
NM_001003800.2(BICD2):c.1002C>T (p.Ser334=) rs1403546969 0.00001
NM_001003800.2(BICD2):c.1024A>G (p.Ile342Val) rs777795062 0.00001
NM_001003800.2(BICD2):c.1026C>T (p.Ile342=) rs377363410 0.00001
NM_001003800.2(BICD2):c.1080G>A (p.Ala360=) rs776734115 0.00001
NM_001003800.2(BICD2):c.1095G>A (p.Thr365=) rs772489772 0.00001
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys) rs766132361 0.00001
NM_001003800.2(BICD2):c.1166G>A (p.Arg389His) rs762910297 0.00001
NM_001003800.2(BICD2):c.1195C>T (p.Arg399Cys) rs200542458 0.00001
NM_001003800.2(BICD2):c.1196G>A (p.Arg399His) rs372251238 0.00001
NM_001003800.2(BICD2):c.1211A>G (p.Lys404Arg) rs754667036 0.00001
NM_001003800.2(BICD2):c.1212G>A (p.Lys404=) rs1024172888 0.00001
NM_001003800.2(BICD2):c.1233C>T (p.Asp411=) rs1263910742 0.00001
NM_001003800.2(BICD2):c.132C>G (p.Ala44=) rs1431463618 0.00001
NM_001003800.2(BICD2):c.133G>C (p.Glu45Gln) rs776420993 0.00001
NM_001003800.2(BICD2):c.1371C>T (p.Arg457=) rs770158042 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001003800.2(BICD2):c.1407G>A (p.Glu469=) rs1853403291 0.00001
NM_001003800.2(BICD2):c.1445C>T (p.Thr482Met) rs761146388 0.00001
NM_001003800.2(BICD2):c.1500C>T (p.Ala500=) rs1275858663 0.00001
NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln) rs398123032 0.00001
NM_001003800.2(BICD2):c.1533C>T (p.Asp511=) rs773725679 0.00001
NM_001003800.2(BICD2):c.1542C>T (p.Gly514=) rs1240963153 0.00001
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) rs940304129 0.00001
NM_001003800.2(BICD2):c.1590C>A (p.Phe530Leu) rs1472200920 0.00001
NM_001003800.2(BICD2):c.162G>C (p.Lys54Asn) rs779949554 0.00001
NM_001003800.2(BICD2):c.165C>A (p.His55Gln) rs150915279 0.00001
NM_001003800.2(BICD2):c.1675G>A (p.Glu559Lys) rs759941912 0.00001
NM_001003800.2(BICD2):c.1686C>T (p.Gly562=) rs369522942 0.00001
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser) rs1302642659 0.00001
NM_001003800.2(BICD2):c.1708G>A (p.Gly570Arg) rs1478607428 0.00001
NM_001003800.2(BICD2):c.1733G>A (p.Arg578His) rs776528966 0.00001
NM_001003800.2(BICD2):c.1770G>A (p.Leu590=) rs1347133721 0.00001
NM_001003800.2(BICD2):c.1777C>T (p.Pro593Ser) rs1375372433 0.00001
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln) rs1412401979 0.00001
NM_001003800.2(BICD2):c.1804A>G (p.Thr602Ala) rs941771966 0.00001
NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) rs935505713 0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser) rs768918778 0.00001
NM_001003800.2(BICD2):c.1940G>A (p.Arg647His) rs774220760 0.00001
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu) rs748802657 0.00001
NM_001003800.2(BICD2):c.1990G>A (p.Ala664Thr) rs752300430 0.00001
NM_001003800.2(BICD2):c.1992C>T (p.Ala664=) rs767316412 0.00001
NM_001003800.2(BICD2):c.2008G>A (p.Glu670Lys) rs372899268 0.00001
NM_001003800.2(BICD2):c.2013G>A (p.Ala671=) rs552216061 0.00001
NM_001003800.2(BICD2):c.2028C>T (p.Ile676=) rs370600458 0.00001
NM_001003800.2(BICD2):c.2031C>T (p.Leu677=) rs1321291810 0.00001
NM_001003800.2(BICD2):c.203A>G (p.Tyr68Cys) rs141519259 0.00001
NM_001003800.2(BICD2):c.2043G>A (p.Ser681=) rs746297393 0.00001
NM_001003800.2(BICD2):c.2107-7C>A rs757247225 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001003800.2(BICD2):c.2145T>C (p.Tyr715=) rs1042399429 0.00001
NM_001003800.2(BICD2):c.2169C>T (p.Thr723=) rs770335133 0.00001
NM_001003800.2(BICD2):c.2196G>A (p.Glu732=) rs367722713 0.00001
NM_001003800.2(BICD2):c.2218G>A (p.Ala740Thr) rs1210812038 0.00001
NM_001003800.2(BICD2):c.222G>A (p.Glu74=) rs138918080 0.00001
NM_001003800.2(BICD2):c.2258+11T>C rs929825881 0.00001
NM_001003800.2(BICD2):c.2258+6C>T rs566572599 0.00001
NM_001003800.2(BICD2):c.2259G>A (p.Arg753=) rs921619761 0.00001
NM_001003800.2(BICD2):c.2272A>G (p.Ile758Val) rs766894803 0.00001
NM_001003800.2(BICD2):c.2306C>T (p.Ala769Val) rs773121830 0.00001
NM_001003800.2(BICD2):c.2307G>A (p.Ala769=) rs573705109 0.00001
NM_001003800.2(BICD2):c.2334G>A (p.Leu778=) rs950657224 0.00001
NM_001003800.2(BICD2):c.2339C>T (p.Ser780Leu) rs377454040 0.00001
NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys) rs144944522 0.00001
NM_001003800.2(BICD2):c.2373G>A (p.Ala791=) rs572517685 0.00001
NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln) rs1473987839 0.00001
NM_001003800.2(BICD2):c.2419C>T (p.Arg807Trp) rs778940849 0.00001
NM_001003800.2(BICD2):c.2428C>T (p.Arg810Cys) rs778218322 0.00001
NM_001003800.2(BICD2):c.2468G>A (p.Ser823Asn) rs1853279588 0.00001
NM_001003800.2(BICD2):c.2500A>G (p.Arg834Gly) rs755577434 0.00001
NM_001003800.2(BICD2):c.2542G>A (p.Glu848Lys) rs766447651 0.00001
NM_001003800.2(BICD2):c.286G>A (p.Gly96Arg) rs749242497 0.00001
NM_001003800.2(BICD2):c.295C>T (p.Arg99Trp) rs751756270 0.00001
NM_001003800.2(BICD2):c.321G>A (p.Ser107=) rs750735477 0.00001
NM_001003800.2(BICD2):c.354G>A (p.Val118=) rs1853628487 0.00001
NM_001003800.2(BICD2):c.369G>A (p.Thr123=) rs200399010 0.00001
NM_001003800.2(BICD2):c.389A>G (p.Asn130Ser) rs142827536 0.00001
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met) rs758588310 0.00001
NM_001003800.2(BICD2):c.411G>A (p.Ser137=) rs201096970 0.00001
NM_001003800.2(BICD2):c.440A>G (p.Gln147Arg) rs764759240 0.00001
NM_001003800.2(BICD2):c.454-4A>G rs1379719399 0.00001
NM_001003800.2(BICD2):c.510C>T (p.Tyr170=) rs1330116801 0.00001
NM_001003800.2(BICD2):c.527G>T (p.Arg176Leu) rs1207286970 0.00001
NM_001003800.2(BICD2):c.531G>C (p.Leu177=) rs1057523240 0.00001
NM_001003800.2(BICD2):c.54G>A (p.Gln18=) rs746869464 0.00001
NM_001003800.2(BICD2):c.591G>A (p.Val197=) rs41316958 0.00001
NM_001003800.2(BICD2):c.606+7C>G rs1164296084 0.00001
NM_001003800.2(BICD2):c.657C>T (p.Thr219=) rs934722432 0.00001
NM_001003800.2(BICD2):c.723G>A (p.Glu241=) rs1320353578 0.00001
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys) rs371897802 0.00001
NM_001003800.2(BICD2):c.747G>A (p.Thr249=) rs145083783 0.00001
NM_001003800.2(BICD2):c.748G>C (p.Glu250Gln) rs369847588 0.00001
NM_001003800.2(BICD2):c.78G>A (p.Val26=) rs752899435 0.00001
NM_001003800.2(BICD2):c.816C>T (p.Tyr272=) rs368490787 0.00001
NM_001003800.2(BICD2):c.837G>A (p.Ser279=) rs141444039 0.00001
NM_001003800.2(BICD2):c.878A>G (p.Asn293Ser) rs767895612 0.00001
NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys) rs770331418 0.00001
NM_001003800.2(BICD2):c.927C>T (p.Ala309=) rs780098431 0.00001
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met) rs753891194 0.00001
NM_001003800.2(BICD2):c.969G>A (p.Glu323=) rs752952319 0.00001
NM_001003800.2(BICD2):c.975C>T (p.Leu325=) rs368131334 0.00001
NM_001003800.2(BICD2):c.980C>T (p.Pro327Leu) rs772728967 0.00001
NM_001003800.2(BICD2):c.986C>A (p.Ser329Tyr) rs761526161 0.00001
NC_000009.11:g.(?_95477699)_(95479322_?)del
NC_000009.11:g.(?_95477703)_(95479326_?)del
NC_000009.11:g.(?_95526777)_(95527036_?)del
NM_001003800.2(BICD2):c.1002C>G (p.Ser334=) rs1403546969
NM_001003800.2(BICD2):c.1006C>T (p.Leu336=) rs1853434245
NM_001003800.2(BICD2):c.1008A>T (p.Leu336=) rs950357888
NM_001003800.2(BICD2):c.1020C>T (p.Leu340=) rs2131502090
NM_001003800.2(BICD2):c.1027T>G (p.Ser343Ala)
NM_001003800.2(BICD2):c.102C>T (p.Ala34=)
NM_001003800.2(BICD2):c.1041G>A (p.Lys347=)
NM_001003800.2(BICD2):c.1047G>A (p.Lys349=) rs2131502064
NM_001003800.2(BICD2):c.1053G>T (p.Gln351His) rs2131502057
NM_001003800.2(BICD2):c.1058T>C (p.Met353Thr)
NM_001003800.2(BICD2):c.1062+5G>A
NM_001003800.2(BICD2):c.1062G>T (p.Gln354His)
NM_001003800.2(BICD2):c.1063-10G>A
NM_001003800.2(BICD2):c.1063-7T>A rs1853416488
NM_001003800.2(BICD2):c.1063A>G (p.Met355Val) rs767226677
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) rs767226677
NM_001003800.2(BICD2):c.1070G>A (p.Arg357Gln)
NM_001003800.2(BICD2):c.1083C>A (p.Gly361=) rs1324298551
NM_001003800.2(BICD2):c.1083C>G (p.Gly361=)
NM_001003800.2(BICD2):c.1094C>A (p.Thr365Lys)
NM_001003800.2(BICD2):c.1098G>A (p.Leu366=)
NM_001003800.2(BICD2):c.1098G>T (p.Leu366=) rs1423882382
NM_001003800.2(BICD2):c.10_12dup (p.Pro4_Ser5insPro)
NM_001003800.2(BICD2):c.1107A>G (p.Thr369=) rs1430715621
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
NM_001003800.2(BICD2):c.1110G>C (p.Gln370His)
NM_001003800.2(BICD2):c.111G>A (p.Thr37=)
NM_001003800.2(BICD2):c.1120G>A (p.Glu374Lys)
NM_001003800.2(BICD2):c.1123C>G (p.His375Asp)
NM_001003800.2(BICD2):c.1132G>T (p.Gly378Cys)
NM_001003800.2(BICD2):c.1133G>C (p.Gly378Ala) rs1440404997
NM_001003800.2(BICD2):c.1138C>T (p.Leu380=) rs767146224
NM_001003800.2(BICD2):c.1152G>A (p.Gln384=)
NM_001003800.2(BICD2):c.1153G>A (p.Glu385Lys)
NM_001003800.2(BICD2):c.1168C>T (p.Leu390Phe) rs192669216
NM_001003800.2(BICD2):c.1174G>A (p.Glu392Lys)
NM_001003800.2(BICD2):c.1185T>A (p.Ser395Arg)
NM_001003800.2(BICD2):c.1189C>G (p.Leu397Val) rs1853411761
NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)
NM_001003800.2(BICD2):c.11C>G (p.Pro4Arg)
NM_001003800.2(BICD2):c.1203G>A (p.Gln401=) rs752209653
NM_001003800.2(BICD2):c.1204G>A (p.Ala402Thr)
NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)
NM_001003800.2(BICD2):c.120G>A (p.Lys40=) rs761445273
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
NM_001003800.2(BICD2):c.1221G>A (p.Gln407=)
NM_001003800.2(BICD2):c.1230G>A (p.Leu410=)
NM_001003800.2(BICD2):c.1237G>A (p.Glu413Lys) rs368361239
NM_001003800.2(BICD2):c.1246C>T (p.Arg416Cys) rs1853409127
NM_001003800.2(BICD2):c.1251C>T (p.Asp417=)
NM_001003800.2(BICD2):c.1257T>G (p.His419Gln) rs774663157
NM_001003800.2(BICD2):c.1262A>T (p.Asp421Val)
NM_001003800.2(BICD2):c.1265G>A (p.Gly422Glu) rs2131501032
NM_001003800.2(BICD2):c.1273T>C (p.Tyr425His) rs1853407945
NM_001003800.2(BICD2):c.1276G>A (p.Glu426Lys) rs184465241
NM_001003800.2(BICD2):c.1290C>T (p.Asn430=)
NM_001003800.2(BICD2):c.1291G>A (p.Gly431Arg) rs780600581
NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)
NM_001003800.2(BICD2):c.1299G>A (p.Glu433=)
NM_001003800.2(BICD2):c.12G>A (p.Pro4=)
NM_001003800.2(BICD2):c.1308C>T (p.Ala436=)
NM_001003800.2(BICD2):c.1312A>C (p.Lys438Gln) rs1587669231
NM_001003800.2(BICD2):c.1335G>A (p.Glu445=) rs1853406194
NM_001003800.2(BICD2):c.1342G>A (p.Glu448Lys)
NM_001003800.2(BICD2):c.1350C>T (p.Arg450=)
NM_001003800.2(BICD2):c.1369C>A (p.Arg457Ser) rs376220375
NM_001003800.2(BICD2):c.1372A>G (p.Ser458Gly) rs1853404911
NM_001003800.2(BICD2):c.1375A>G (p.Thr459Ala)
NM_001003800.2(BICD2):c.1380C>T (p.His460=) rs922441020
NM_001003800.2(BICD2):c.1392G>A (p.Glu464=) rs952855123
NM_001003800.2(BICD2):c.1397A>G (p.Gln466Arg)
NM_001003800.2(BICD2):c.1400A>G (p.His467Arg) rs1564060261
NM_001003800.2(BICD2):c.1402G>A (p.Ala468Thr)
NM_001003800.2(BICD2):c.1405G>A (p.Glu469Lys)
NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser) rs1853403012
NM_001003800.2(BICD2):c.141G>A (p.Gly47=)
NM_001003800.2(BICD2):c.1428T>G (p.Ala476=)
NM_001003800.2(BICD2):c.1429G>C (p.Glu477Gln) rs372840233
NM_001003800.2(BICD2):c.1432G>A (p.Gly478Ser)
NM_001003800.2(BICD2):c.1443C>A (p.Leu481=) rs550844711
NM_001003800.2(BICD2):c.1451A>C (p.Lys484Thr) rs2131500709
NM_001003800.2(BICD2):c.1458C>T (p.Ser486=) rs1853400904
NM_001003800.2(BICD2):c.1462C>T (p.Leu488=) rs1404238241
NM_001003800.2(BICD2):c.1463T>C (p.Leu488Pro) rs1587668983
NM_001003800.2(BICD2):c.1467G>A (p.Glu489=)
NM_001003800.2(BICD2):c.1473C>T (p.Ala491=)
NM_001003800.2(BICD2):c.1478G>A (p.Arg493His)
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) rs1587668960
NM_001003800.2(BICD2):c.1482G>A (p.Gln494=)
NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) rs1457844438
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.1503G>A (p.Arg501=) rs1554705508
NM_001003800.2(BICD2):c.1503G>T (p.Arg501=) rs1554705508
NM_001003800.2(BICD2):c.1506G>A (p.Leu502=)
NM_001003800.2(BICD2):c.150G>C (p.Val50=) rs186133837
NM_001003800.2(BICD2):c.1510_1512del (p.Lys504del) rs1554705506
NM_001003800.2(BICD2):c.1512G>A (p.Lys504=)
NM_001003800.2(BICD2):c.1517T>C (p.Leu506Pro)
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) rs398123031
NM_001003800.2(BICD2):c.1530C>T (p.Ser510=)
NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)
NM_001003800.2(BICD2):c.1536C>T (p.Val512=)
NM_001003800.2(BICD2):c.153C>A (p.Leu51=) rs1307832803
NM_001003800.2(BICD2):c.1541G>T (p.Gly514Val)
NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys) rs1587668852
NM_001003800.2(BICD2):c.1551G>A (p.Gln517=) rs773975705
NM_001003800.2(BICD2):c.1552G>C (p.Gly518Arg)
NM_001003800.2(BICD2):c.1561A>G (p.Ser521Gly) rs1286725301
NM_001003800.2(BICD2):c.1563T>C (p.Ser521=) rs2131500516
NM_001003800.2(BICD2):c.1564G>A (p.Val522Met) rs1853397128
NM_001003800.2(BICD2):c.1569C>T (p.Ala523=) rs1587668828
NM_001003800.2(BICD2):c.1579C>G (p.Leu527Val)
NM_001003800.2(BICD2):c.1582G>A (p.Val528Met) rs908773556
NM_001003800.2(BICD2):c.1582G>T (p.Val528Leu) rs908773556
NM_001003800.2(BICD2):c.1584G>T (p.Val528=)
NM_001003800.2(BICD2):c.1592G>T (p.Ser531Ile) rs1287163670
NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val) rs1587668798
NM_001003800.2(BICD2):c.1607A>G (p.Asn536Ser)
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
NM_001003800.2(BICD2):c.1617C>T (p.His539=)
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp) rs1564060049
NM_001003800.2(BICD2):c.1627A>T (p.Met543Leu)
NM_001003800.2(BICD2):c.1631G>A (p.Cys544Tyr) rs1853395351
NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp) rs1587668769
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser) rs1370503586
NM_001003800.2(BICD2):c.163C>G (p.His55Asp) rs1854442288
NM_001003800.2(BICD2):c.1652G>A (p.Arg551His)
NM_001003800.2(BICD2):c.1655T>C (p.Val552Ala)
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser) rs1587668748
NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys) rs1587668748
NM_001003800.2(BICD2):c.1672C>T (p.Arg558Cys) rs1351684855
NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) rs1263279945
NM_001003800.2(BICD2):c.1673G>T (p.Arg558Leu)
NM_001003800.2(BICD2):c.1674C>A (p.Arg558=) rs35535468
NM_001003800.2(BICD2):c.1674C>T (p.Arg558=) rs35535468
NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)
NM_001003800.2(BICD2):c.1679G>A (p.Gly560Asp)
NM_001003800.2(BICD2):c.1688G>A (p.Gly563Glu)
NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) rs751269137
NM_001003800.2(BICD2):c.16GAG[5] (p.Glu9_Tyr10insGlu)
NM_001003800.2(BICD2):c.1703G>C (p.Ser568Thr)
NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)
NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup) rs998616675
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) rs1333312158
NM_001003800.2(BICD2):c.1711G>A (p.Gly571Ser)
NM_001003800.2(BICD2):c.1712G>T (p.Gly571Val)
NM_001003800.2(BICD2):c.1718C>G (p.Thr573Ser)
NM_001003800.2(BICD2):c.1719C>A (p.Thr573=) rs1587668638
NM_001003800.2(BICD2):c.1724C>A (p.Pro575His)
NM_001003800.2(BICD2):c.1725C>T (p.Pro575=) rs201343832
NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)
NM_001003800.2(BICD2):c.1731G>A (p.Ala577=)
NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)
NM_001003800.2(BICD2):c.1732C>T (p.Arg578Cys)
NM_001003800.2(BICD2):c.1732del (p.Arg578fs) rs1554705455
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp)
NM_001003800.2(BICD2):c.1739G>A (p.Arg580Gln) rs775229197
NM_001003800.2(BICD2):c.1758A>G (p.Leu586=) rs540475126
NM_001003800.2(BICD2):c.1766G>A (p.Gly589Glu)
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
NM_001003800.2(BICD2):c.1787G>T (p.Gly596Val) rs1377173037
NM_001003800.2(BICD2):c.1798G>T (p.Gly600Cys)
NM_001003800.2(BICD2):c.1801G>T (p.Gly601Trp) rs2131500027
NM_001003800.2(BICD2):c.1817G>A (p.Ser606Asn) rs897077465
NM_001003800.2(BICD2):c.181T>C (p.Phe61Leu)
NM_001003800.2(BICD2):c.1824G>C (p.Ser608=)
NM_001003800.2(BICD2):c.1849C>G (p.Leu617Val) rs990859311
NM_001003800.2(BICD2):c.1858C>A (p.Pro620Thr)
NM_001003800.2(BICD2):c.1862G>A (p.Arg621His)
NM_001003800.2(BICD2):c.1865G>A (p.Arg622Gln)
NM_001003800.2(BICD2):c.1883A>G (p.Tyr628Cys) rs1853383567
NM_001003800.2(BICD2):c.1897A>G (p.Ile633Val)
NM_001003800.2(BICD2):c.18G>A (p.Glu6=) rs2131542789
NM_001003800.2(BICD2):c.1903C>G (p.Arg635Gly)
NM_001003800.2(BICD2):c.1904G>A (p.Arg635His)
NM_001003800.2(BICD2):c.1914C>G (p.Ile638Met)
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)
NM_001003800.2(BICD2):c.1922T>C (p.Leu641Pro) rs1554705383
NM_001003800.2(BICD2):c.1922T>G (p.Leu641Arg)
NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)
NM_001003800.2(BICD2):c.192C>T (p.Leu64=)
NM_001003800.2(BICD2):c.1931C>A (p.Ala644Asp) rs1564059605
NM_001003800.2(BICD2):c.1957C>T (p.Arg653Cys)
NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)
NM_001003800.2(BICD2):c.1959C>G (p.Arg653=)
NM_001003800.2(BICD2):c.1964G>T (p.Arg655Leu)
NM_001003800.2(BICD2):c.1978G>A (p.Glu660Lys) rs1853379869
NM_001003800.2(BICD2):c.1993G>A (p.Val665Met)
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(BICD2):c.1997A>C (p.Asp666Ala) rs1587668190
NM_001003800.2(BICD2):c.1A>C (p.Met1Leu) rs2131542823
NM_001003800.2(BICD2):c.2004C>T (p.Asp668=)
NM_001003800.2(BICD2):c.2017A>G (p.Met673Val)
NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)
NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg) rs2131499599
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001003800.2(BICD2):c.2057A>T (p.Lys686Met) rs1587668129
NM_001003800.2(BICD2):c.2058G>A (p.Lys686=)
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
NM_001003800.2(BICD2):c.2058G>T (p.Lys686Asn) rs376312313
NM_001003800.2(BICD2):c.2064G>A (p.Glu688=) rs1198718448
NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg) rs1554705339
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2086G>C (p.Val696Leu)
NM_001003800.2(BICD2):c.2091C>T (p.Leu697=)
NM_001003800.2(BICD2):c.2100C>A (p.Asn700Lys)
NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg) rs1587668077
NM_001003800.2(BICD2):c.2106+11A>C
NM_001003800.2(BICD2):c.2106+13G>A
NM_001003800.2(BICD2):c.2106+14C>T
NM_001003800.2(BICD2):c.2106+6G>C rs201184890
NM_001003800.2(BICD2):c.2106+8G>A rs1587668064
NM_001003800.2(BICD2):c.2107-15A>G
NM_001003800.2(BICD2):c.2107-3C>T
NM_001003800.2(BICD2):c.2107-7C>G
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
NM_001003800.2(BICD2):c.212T>C (p.Ile71Thr) rs2131542548
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
NM_001003800.2(BICD2):c.2158G>A (p.Ala720Thr)
NM_001003800.2(BICD2):c.2161A>G (p.Met721Val)
NM_001003800.2(BICD2):c.2170G>A (p.Glu724Lys)
NM_001003800.2(BICD2):c.2173A>T (p.Thr725Ser) rs2131498763
NM_001003800.2(BICD2):c.2175C>G (p.Thr725=)
NM_001003800.2(BICD2):c.2181G>T (p.Met727Ile)
NM_001003800.2(BICD2):c.2184G>A (p.Lys728=) rs771619173
NM_001003800.2(BICD2):c.2189G>T (p.Arg730Leu) rs943974428
NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) rs1853349816
NM_001003800.2(BICD2):c.2209A>G (p.Lys737Glu) rs2131498684
NM_001003800.2(BICD2):c.2209_2211del (p.Lys737del) rs2131498680
NM_001003800.2(BICD2):c.2219C>T (p.Ala740Val)
NM_001003800.2(BICD2):c.2224_2226dup (p.Thr742dup) rs1554705227
NM_001003800.2(BICD2):c.2227_2228delinsAC (p.Phe743Thr) rs1853349102
NM_001003800.2(BICD2):c.2229C>T (p.Phe743=)
NM_001003800.2(BICD2):c.2234C>T (p.Ser745Leu)
NM_001003800.2(BICD2):c.2235G>T (p.Ser745=)
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
NM_001003800.2(BICD2):c.224T>C (p.Met75Thr)
NM_001003800.2(BICD2):c.2258+14T>C
NM_001003800.2(BICD2):c.2258+17C>G
NM_001003800.2(BICD2):c.2258+17C>T rs554612134
NM_001003800.2(BICD2):c.2258+18G>A rs376177099
NM_001003800.2(BICD2):c.2258+757_2305del
NM_001003800.2(BICD2):c.2258+7G>A
NM_001003800.2(BICD2):c.2259-3C>T
NM_001003800.2(BICD2):c.225G>T (p.Met75Ile) rs1854440556
NM_001003800.2(BICD2):c.2285A>T (p.Asp762Val) rs1853288605
NM_001003800.2(BICD2):c.2294A>G (p.Gln765Arg) rs1853288308
NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln) rs1216459221
NM_001003800.2(BICD2):c.2301G>A (p.Gln767=) rs1357621526
NM_001003800.2(BICD2):c.2313T>A (p.Ala771=)
NM_001003800.2(BICD2):c.2314G>A (p.Glu772Lys)
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys) rs1131691347
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr) rs2131496327
NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala) rs1587666004
NM_001003800.2(BICD2):c.2340G>T (p.Ser780=)
NM_001003800.2(BICD2):c.2355C>T (p.Ala785=)
NM_001003800.2(BICD2):c.2358C>A (p.Ile786=) rs2131496275
NM_001003800.2(BICD2):c.2364G>A (p.Gln788=)
NM_001003800.2(BICD2):c.2368C>T (p.Leu790=)
NM_001003800.2(BICD2):c.2370G>A (p.Leu790=)
NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) rs756421767
NM_001003800.2(BICD2):c.238G>T (p.Glu80Ter)
NM_001003800.2(BICD2):c.2397C>G (p.Leu799=)
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
NM_001003800.2(BICD2):c.240+11C>T
NM_001003800.2(BICD2):c.240+14C>T
NM_001003800.2(BICD2):c.240+8G>A
NM_001003800.2(BICD2):c.241-12C>T
NM_001003800.2(BICD2):c.241-4G>A rs1400871977
NM_001003800.2(BICD2):c.2412G>A (p.Glu804=)
NM_001003800.2(BICD2):c.241G>C (p.Ala81Pro)
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln) rs1564057942
NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys) rs143189118
NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)
NM_001003800.2(BICD2):c.2439C>T (p.Ala813=)
NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)
NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)
NM_001003800.2(BICD2):c.2470G>C (p.Val824Leu) rs774445661
NM_001003800.2(BICD2):c.247G>A (p.Gly83Arg) rs1587675774
NM_001003800.2(BICD2):c.2481C>G (p.Thr827=)
NM_001003800.2(BICD2):c.2485G>A (p.Ala829Thr) rs1853278571
NM_001003800.2(BICD2):c.2493C>T (p.Ala831=)
NM_001003800.2(BICD2):c.2496C>T (p.Ser832=)
NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)
NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)
NM_001003800.2(BICD2):c.2527C>G (p.Gln843Glu)
NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)
NM_001003800.2(BICD2):c.253G>A (p.Ala85Thr)
NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln) rs1412613776
NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)
NM_001003800.2(BICD2):c.2559C>T (p.Tyr853=)
NM_001003800.2(BICD2):c.2563G>A (p.Asp855Asn)
NM_001003800.2(BICD2):c.258C>T (p.His86=) rs771744154
NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)
NM_001003800.2(BICD2):c.27G>C (p.Glu9Asp) rs2131542772
NM_001003800.2(BICD2):c.291G>A (p.Glu97=)
NM_001003800.2(BICD2):c.301G>A (p.Glu101Lys) rs1554706635
NM_001003800.2(BICD2):c.305G>T (p.Ser102Ile) rs1853629682
NM_001003800.2(BICD2):c.307C>T (p.Leu103=) rs1554706634
NM_001003800.2(BICD2):c.30C>T (p.Tyr10=)
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.327C>T (p.Ser109=) rs372097396
NM_001003800.2(BICD2):c.334C>G (p.Gln112Glu)
NM_001003800.2(BICD2):c.342C>T (p.Tyr114=)
NM_001003800.2(BICD2):c.346C>G (p.Arg116Gly)
NM_001003800.2(BICD2):c.35_52dup (p.Ala17_Gln18insArgLeuValMetGluAla)
NM_001003800.2(BICD2):c.361C>G (p.Leu121Val)
NM_001003800.2(BICD2):c.368_369delinsTT (p.Thr123Ile)
NM_001003800.2(BICD2):c.36G>C (p.Arg12=)
NM_001003800.2(BICD2):c.380A>G (p.Gln127Arg)
NM_001003800.2(BICD2):c.386G>A (p.Arg129His) rs780485203
NM_001003800.2(BICD2):c.38T>G (p.Leu13Arg) rs1340902320
NM_001003800.2(BICD2):c.393C>A (p.Val131=)
NM_001003800.2(BICD2):c.396C>T (p.Leu132=)
NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)
NM_001003800.2(BICD2):c.39G>A (p.Leu13=)
NM_001003800.2(BICD2):c.421C>T (p.Arg141Cys)
NM_001003800.2(BICD2):c.422G>A (p.Arg141His)
NM_001003800.2(BICD2):c.422G>T (p.Arg141Leu)
NM_001003800.2(BICD2):c.453+13G>A rs773913737
NM_001003800.2(BICD2):c.453+17G>A
NM_001003800.2(BICD2):c.453+20C>T
NM_001003800.2(BICD2):c.453+8G>T rs1180069016
NM_001003800.2(BICD2):c.453+9G>A
NM_001003800.2(BICD2):c.453+9G>T rs202189685
NM_001003800.2(BICD2):c.454-10C>T
NM_001003800.2(BICD2):c.454-5A>G rs1554706060
NM_001003800.2(BICD2):c.454-6C>T
NM_001003800.2(BICD2):c.454-9C>A
NM_001003800.2(BICD2):c.454A>T (p.Ile152Phe) rs1853491424
NM_001003800.2(BICD2):c.458A>T (p.Asn153Ile) rs2131504307
NM_001003800.2(BICD2):c.464A>G (p.Asn155Ser) rs1853491158
NM_001003800.2(BICD2):c.466G>A (p.Val156Met)
NM_001003800.2(BICD2):c.479G>A (p.Arg160His)
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
NM_001003800.2(BICD2):c.501C>A (p.Ile167=)
NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)
NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)
NM_001003800.2(BICD2):c.513A>G (p.Lys171=) rs1587671742
NM_001003800.2(BICD2):c.516C>T (p.Phe172=)
NM_001003800.2(BICD2):c.527G>A (p.Arg176His) rs1207286970
NM_001003800.2(BICD2):c.535C>T (p.Gln179Ter)
NM_001003800.2(BICD2):c.538G>A (p.Asp180Asn)
NM_001003800.2(BICD2):c.545C>T (p.Ser182Leu)
NM_001003800.2(BICD2):c.546G>C (p.Ser182=)
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe) rs1587671674
NM_001003800.2(BICD2):c.567C>G (p.Ile189Met) rs2131504104
NM_001003800.2(BICD2):c.56C>T (p.Pro19Leu)
NM_001003800.2(BICD2):c.578A>C (p.Lys193Thr)
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg) rs1564061982
NM_001003800.2(BICD2):c.587C>T (p.Ser196Phe) rs1853487156
NM_001003800.2(BICD2):c.58G>C (p.Glu20Gln) rs780000539
NM_001003800.2(BICD2):c.597A>G (p.Arg199=)
NM_001003800.2(BICD2):c.598C>G (p.Gln200Glu)
NM_001003800.2(BICD2):c.59A>G (p.Glu20Gly)
NM_001003800.2(BICD2):c.606+18G>T rs764986592
NM_001003800.2(BICD2):c.607-15G>T
NM_001003800.2(BICD2):c.607-18G>A
NM_001003800.2(BICD2):c.607-18G>C rs370358019
NM_001003800.2(BICD2):c.607-19C>T
NM_001003800.2(BICD2):c.607-8C>T
NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)
NM_001003800.2(BICD2):c.623T>C (p.Leu208Pro) rs1853448827
NM_001003800.2(BICD2):c.629A>C (p.His210Pro)
NM_001003800.2(BICD2):c.645G>A (p.Leu215=) rs2131502716
NM_001003800.2(BICD2):c.64C>G (p.Leu22Val) rs758212511
NM_001003800.2(BICD2):c.651G>A (p.Glu217=)
NM_001003800.2(BICD2):c.656C>G (p.Thr219Ser) rs370390769
NM_001003800.2(BICD2):c.681G>T (p.Glu227Asp)
NM_001003800.2(BICD2):c.684T>A (p.Asp228Glu)
NM_001003800.2(BICD2):c.69C>T (p.Arg23=)
NM_001003800.2(BICD2):c.6G>C (p.Ser2=) rs2131542810
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu) rs1587670538
NM_001003800.2(BICD2):c.705C>G (p.Ile235Met) rs1183367895
NM_001003800.2(BICD2):c.710A>G (p.Glu237Gly) rs2131502641
NM_001003800.2(BICD2):c.714G>A (p.Arg238=)
NM_001003800.2(BICD2):c.717G>C (p.Gln239His)
NM_001003800.2(BICD2):c.725A>G (p.Glu242Gly) rs369298186
NM_001003800.2(BICD2):c.729G>T (p.Ala243=)
NM_001003800.2(BICD2):c.72C>T (p.Ala24=)
NM_001003800.2(BICD2):c.735G>C (p.Glu245Asp) rs2131502587
NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)
NM_001003800.2(BICD2):c.759G>A (p.Gln253=)
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) rs1367809298
NM_001003800.2(BICD2):c.766del (p.Ser256fs)
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001003800.2(BICD2):c.786A>G (p.Ser262=)
NM_001003800.2(BICD2):c.791A>G (p.Tyr264Cys)
NM_001003800.2(BICD2):c.793A>C (p.Met265Leu) rs779331320
NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe) rs375710311
NM_001003800.2(BICD2):c.812_814del (p.Phe271del)
NM_001003800.2(BICD2):c.819C>T (p.Thr273=) rs1587670357
NM_001003800.2(BICD2):c.823C>T (p.His275Tyr)
NM_001003800.2(BICD2):c.82C>T (p.Arg28Trp)
NM_001003800.2(BICD2):c.833T>C (p.Val278Ala) rs1853441867
NM_001003800.2(BICD2):c.84G>A (p.Arg28=)
NM_001003800.2(BICD2):c.85C>G (p.Leu29Val)
NM_001003800.2(BICD2):c.862G>A (p.Asp288Asn)
NM_001003800.2(BICD2):c.864T>A (p.Asp288Glu)
NM_001003800.2(BICD2):c.868G>A (p.Ala290Thr)
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001003800.2(BICD2):c.873G>A (p.Glu291=)
NM_001003800.2(BICD2):c.876C>G (p.Pro292=) rs1564061112
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)
NM_001003800.2(BICD2):c.881A>T (p.Asn294Ile)
NM_001003800.2(BICD2):c.882C>T (p.Asn294=)
NM_001003800.2(BICD2):c.888C>T (p.Ala296=)
NM_001003800.2(BICD2):c.897G>A (p.Leu299=)
NM_001003800.2(BICD2):c.89C>G (p.Ser30Cys) rs1271773744
NM_001003800.2(BICD2):c.8C>T (p.Ala3Val)
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser) rs2131502289
NM_001003800.2(BICD2):c.903T>C (p.Asn301=) rs1853438934
NM_001003800.2(BICD2):c.90C>T (p.Ser30=) rs1417077198
NM_001003800.2(BICD2):c.911A>G (p.Glu304Gly)
NM_001003800.2(BICD2):c.913C>T (p.His305Tyr)
NM_001003800.2(BICD2):c.914A>G (p.His305Arg) rs1480204082
NM_001003800.2(BICD2):c.919G>A (p.Gly307Ser)
NM_001003800.2(BICD2):c.91C>T (p.His31Tyr) rs1554709923
NM_001003800.2(BICD2):c.922C>T (p.Leu308=) rs2131502256
NM_001003800.2(BICD2):c.945C>T (p.Asn315=) rs1406227956
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln) rs1564076641
NM_001003800.2(BICD2):c.953C>T (p.Ser318Phe)
NM_001003800.2(BICD2):c.961AAG[1] (p.Lys322del)
NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro)
NM_001003800.2(BICD2):c.976G>T (p.Ala326Ser) rs571839806
NM_001003800.2(BICD2):c.989C>A (p.Pro330His) rs1564060970
NM_001003800.2(BICD2):c.989C>G (p.Pro330Arg)
NM_001003800.2(BICD2):c.990C>A (p.Pro330=)
NM_001003800.2(BICD2):c.990C>G (p.Pro330=) rs371444272
NM_001003800.2(BICD2):c.990C>T (p.Pro330=)
NM_001003800.2(BICD2):c.996C>G (p.Leu332=)
NM_001003800.2(BICD2):c.996C>T (p.Leu332=)
NM_001003800.2(BICD2):c.9G>A (p.Ala3=) rs2131542805

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