ClinVar Miner

List of variants in gene CNTN1 studied for Compton-North congenital myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 482
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HGVS dbSNP gnomAD frequency
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=) rs1056019 0.62528
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=) rs935105 0.13920
NM_001843.4(CNTN1):c.2711-17A>G rs12367345 0.12247
NM_001843.4(CNTN1):c.1805-14C>A rs10784981 0.11616
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03763
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) rs2229930 0.03222
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00980
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) rs34346038 0.00972
NM_001843.4(CNTN1):c.90T>C (p.His30=) rs61748365 0.00707
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00396
NM_001843.4(CNTN1):c.986-16del rs113450310 0.00335
NM_001843.4(CNTN1):c.497-17G>T rs142799954 0.00276
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480 0.00215
NM_001843.4(CNTN1):c.1251G>T (p.Met417Ile) rs145510600 0.00213
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=) rs61759481 0.00138
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=) rs140462332 0.00120
NM_001843.4(CNTN1):c.2980+19A>T rs181426756 0.00112
NM_001843.4(CNTN1):c.804-8A>G rs56172264 0.00106
NM_001843.4(CNTN1):c.400+13T>C rs201396853 0.00105
NM_001843.4(CNTN1):c.1507+19G>T rs145594554 0.00099
NM_001843.4(CNTN1):c.2523+4C>T rs74076940 0.00091
NM_001843.4(CNTN1):c.2823+5A>G rs148453314 0.00078
NM_001843.4(CNTN1):c.873T>A (p.Ser291=) rs200022020 0.00047
NM_001843.4(CNTN1):c.2929C>T (p.Arg977Cys) rs150734960 0.00046
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr) rs142755965 0.00045
NM_001843.4(CNTN1):c.1745C>T (p.Thr582Ile) rs374471716 0.00039
NM_001843.4(CNTN1):c.147T>C (p.Asn49=) rs61754100 0.00035
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) rs138213139 0.00027
NM_001843.4(CNTN1):c.2524-11A>T rs141066737 0.00023
NM_001843.4(CNTN1):c.54T>C (p.Cys18=) rs149203149 0.00022
NM_001843.4(CNTN1):c.1805-3C>T rs771301005 0.00016
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) rs151126410 0.00014
NM_001843.4(CNTN1):c.1722G>A (p.Gln574=) rs201122600 0.00014
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001843.4(CNTN1):c.2604C>T (p.Leu868=) rs145610308 0.00013
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) rs143416044 0.00012
NM_001843.4(CNTN1):c.1380-18A>G rs370118779 0.00011
NM_001843.4(CNTN1):c.2595G>C (p.Ser865=) rs145714777 0.00010
NM_001843.4(CNTN1):c.2824-6T>C rs201098244 0.00010
NM_001843.4(CNTN1):c.1662T>A (p.Ile554=) rs138029751 0.00009
NM_001843.4(CNTN1):c.2523+12T>C rs768112635 0.00009
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val) rs972742579 0.00009
NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly) rs141706688 0.00008
NM_001843.4(CNTN1):c.1380-14T>G rs374938536 0.00008
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=) rs768838928 0.00008
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) rs771657279 0.00008
NM_001843.4(CNTN1):c.1542C>T (p.Ala514=) rs368497792 0.00007
NM_001843.4(CNTN1):c.1546A>G (p.Ile516Val) rs547675934 0.00006
NM_001843.4(CNTN1):c.1626C>T (p.Phe542=) rs375356153 0.00006
NM_001843.4(CNTN1):c.189C>T (p.Leu63=) rs761963268 0.00006
NM_001843.4(CNTN1):c.2106C>T (p.Asp702=) rs147943881 0.00006
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) rs201782849 0.00006
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg) rs138121813 0.00006
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile) rs148239965 0.00006
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) rs200796487 0.00006
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe) rs201778720 0.00006
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg) rs773305634 0.00006
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) rs752293954 0.00006
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val) rs149305190 0.00006
NM_001843.4(CNTN1):c.804-17G>C rs756134091 0.00006
NM_001843.4(CNTN1):c.1013A>G (p.Asn338Ser) rs200519841 0.00005
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His) rs769284324 0.00005
NM_001843.4(CNTN1):c.2081T>C (p.Ile694Thr) rs144933003 0.00005
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr) rs537681547 0.00005
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile) rs768847583 0.00005
NM_001843.4(CNTN1):c.2931C>T (p.Arg977=) rs139461180 0.00005
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) rs769750595 0.00004
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp) rs201534221 0.00004
NM_001843.4(CNTN1):c.1907A>C (p.Lys636Thr) rs561403880 0.00004
NM_001843.4(CNTN1):c.2114-20T>C rs896908779 0.00004
NM_001843.4(CNTN1):c.2553A>G (p.Glu851=) rs150210369 0.00004
NM_001843.4(CNTN1):c.2853T>C (p.Asp951=) rs756967148 0.00004
NM_001843.4(CNTN1):c.2934G>A (p.Ala978=) rs760832587 0.00004
NM_001843.4(CNTN1):c.315A>G (p.Lys105=) rs553916945 0.00004
NM_001843.4(CNTN1):c.330A>T (p.Gly110=) rs150601046 0.00004
NM_001843.4(CNTN1):c.401-6A>G rs146099643 0.00004
NM_001843.4(CNTN1):c.693A>G (p.Pro231=) rs755987043 0.00004
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp) rs144047921 0.00004
NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln) rs201607834 0.00004
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) rs148624625 0.00004
NM_001843.4(CNTN1):c.1229-8del rs754948008 0.00003
NM_001843.4(CNTN1):c.1449A>G (p.Thr483=) rs763469800 0.00003
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) rs573923461 0.00003
NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn) rs201639044 0.00003
NM_001843.4(CNTN1):c.1515G>A (p.Thr505=) rs148905523 0.00003
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) rs973419081 0.00003
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr) rs549628424 0.00003
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser) rs566695601 0.00003
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser) rs756665946 0.00003
NM_001843.4(CNTN1):c.401-8G>A rs575754931 0.00003
NM_001843.4(CNTN1):c.495A>G (p.Pro165=) rs751830078 0.00003
NM_001843.4(CNTN1):c.633C>T (p.Cys211=) rs746981200 0.00003
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) rs1478025106 0.00003
NM_001843.4(CNTN1):c.813G>A (p.Pro271=) rs778411720 0.00003
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) rs769193585 0.00002
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu) rs768371907 0.00002
NM_001843.4(CNTN1):c.1158C>T (p.Ala386=) rs74549636 0.00002
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr) rs758774084 0.00002
NM_001843.4(CNTN1):c.1281T>C (p.Ala427=) rs536609686 0.00002
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) rs773805932 0.00002
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg) rs761803826 0.00002
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe) rs374678549 0.00002
NM_001843.4(CNTN1):c.1842C>T (p.Asp614=) rs371908420 0.00002
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) rs1056153404 0.00002
NM_001843.4(CNTN1):c.2059C>T (p.Leu687=) rs377022967 0.00002
NM_001843.4(CNTN1):c.2163A>G (p.Arg721=) rs749748819 0.00002
NM_001843.4(CNTN1):c.2184+10G>A rs1234947673 0.00002
NM_001843.4(CNTN1):c.2301T>C (p.Tyr767=) rs760428485 0.00002
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg) rs538201110 0.00002
NM_001843.4(CNTN1):c.512G>A (p.Arg171His) rs201037986 0.00002
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu) rs763318952 0.00002
NM_001843.4(CNTN1):c.760T>C (p.Leu254=) rs755959346 0.00002
NM_001843.4(CNTN1):c.84T>C (p.Tyr28=) rs772717194 0.00002
NM_001843.4(CNTN1):c.882T>C (p.Val294=) rs760650497 0.00002
NM_001843.4(CNTN1):c.1065A>G (p.Thr355=) rs779267147 0.00001
NM_001843.4(CNTN1):c.1111-7T>C rs747077038 0.00001
NM_001843.4(CNTN1):c.1122G>A (p.Gly374=) rs1457266738 0.00001
NM_001843.4(CNTN1):c.1185C>T (p.Asn395=) rs760250045 0.00001
NM_001843.4(CNTN1):c.1228+4A>G rs1183511907 0.00001
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val) rs896129454 0.00001
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys) rs1465154174 0.00001
NM_001843.4(CNTN1):c.1323A>G (p.Ala441=) rs771836216 0.00001
NM_001843.4(CNTN1):c.1326G>A (p.Pro442=) rs1382743416 0.00001
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly) rs1946191168 0.00001
NM_001843.4(CNTN1):c.1508-3T>C rs768212555 0.00001
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala) rs199754941 0.00001
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val) rs779551448 0.00001
NM_001843.4(CNTN1):c.1584G>A (p.Ala528=) rs372359836 0.00001
NM_001843.4(CNTN1):c.168A>C (p.Ser56=) rs1426241282 0.00001
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) rs142561108 0.00001
NM_001843.4(CNTN1):c.1719G>A (p.Ala573=) rs777069796 0.00001
NM_001843.4(CNTN1):c.1723C>T (p.Leu575=) rs1009645260 0.00001
NM_001843.4(CNTN1):c.1800G>A (p.Val600=) rs1326033692 0.00001
NM_001843.4(CNTN1):c.1804+7G>C rs751956205 0.00001
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) rs1172211353 0.00001
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) rs767086250 0.00001
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) rs755364145 0.00001
NM_001843.4(CNTN1):c.1875C>T (p.Ser625=) rs765519666 0.00001
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys) rs563858684 0.00001
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala) rs778593974 0.00001
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn) rs1393458031 0.00001
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) rs777561409 0.00001
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) rs770506056 0.00001
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met) rs760051219 0.00001
NM_001843.4(CNTN1):c.2052C>T (p.Thr684=) rs1375608612 0.00001
NM_001843.4(CNTN1):c.2058A>T (p.Thr686=) rs1363409507 0.00001
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser) rs370161709 0.00001
NM_001843.4(CNTN1):c.2188T>C (p.Leu730=) rs778218297 0.00001
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) rs1033656256 0.00001
NM_001843.4(CNTN1):c.2304C>T (p.Val768=) rs766001371 0.00001
NM_001843.4(CNTN1):c.2326C>T (p.Pro776Ser) rs199833589 0.00001
NM_001843.4(CNTN1):c.2382T>A (p.Pro794=) rs1322651697 0.00001
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr) rs1004191780 0.00001
NM_001843.4(CNTN1):c.246G>A (p.Gly82=) rs765121768 0.00001
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala) rs780316987 0.00001
NM_001843.4(CNTN1):c.249C>T (p.Asp83=) rs377364983 0.00001
NM_001843.4(CNTN1):c.2524-6T>C rs755181630 0.00001
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp) rs1168401868 0.00001
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu) rs761108267 0.00001
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu) rs777846543 0.00001
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) rs751205601 0.00001
NM_001843.4(CNTN1):c.268C>A (p.Arg90=) rs756907367 0.00001
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His) rs761797408 0.00001
NM_001843.4(CNTN1):c.2784C>T (p.Val928=) rs758326489 0.00001
NM_001843.4(CNTN1):c.27T>A (p.His9Gln) rs745850349 0.00001
NM_001843.4(CNTN1):c.2805T>A (p.Ser935=) rs780778743 0.00001
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met) rs141213968 0.00001
NM_001843.4(CNTN1):c.2814G>A (p.Thr938=) rs770255352 0.00001
NM_001843.4(CNTN1):c.2826A>T (p.Val942=) rs371445853 0.00001
NM_001843.4(CNTN1):c.2916C>T (p.Tyr972=) rs868275931 0.00001
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser) rs771084573 0.00001
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser) rs745975456 0.00001
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser) rs766058382 0.00001
NM_001843.4(CNTN1):c.304A>C (p.Asn102His) rs749864561 0.00001
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu) rs755559017 0.00001
NM_001843.4(CNTN1):c.400+8A>C rs779375688 0.00001
NM_001843.4(CNTN1):c.401-17T>G rs776772859 0.00001
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu) rs184703177 0.00001
NM_001843.4(CNTN1):c.429T>C (p.Arg143=) rs944116841 0.00001
NM_001843.4(CNTN1):c.42T>C (p.Ser14=) rs201055499 0.00001
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val) rs1481545617 0.00001
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu) rs775149768 0.00001
NM_001843.4(CNTN1):c.61+16T>C rs1264826564 0.00001
NM_001843.4(CNTN1):c.61+5G>A rs1944916936 0.00001
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe) rs1229864034 0.00001
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr) rs1379159066 0.00001
NM_001843.4(CNTN1):c.703+17T>A rs182672697 0.00001
NM_001843.4(CNTN1):c.726T>A (p.Ala242=) rs1180064251 0.00001
NM_001843.4(CNTN1):c.750T>C (p.Asp250=) rs752740643 0.00001
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser) rs139270901 0.00001
NM_001843.4(CNTN1):c.804-19T>C rs1396284241 0.00001
NM_001843.4(CNTN1):c.855T>C (p.Thr285=) rs775839275 0.00001
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) rs1458269504 0.00001
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile) rs1363438018 0.00001
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu) rs145955800 0.00001
NM_001843.4(CNTN1):c.985+6T>C rs202118617 0.00001
NC_000012.11:g.(?_41302215)_(41365335_?)dup
NC_000012.11:g.(?_41408010)_(41423041_?)del
NC_000012.12:g.(?_40691442)_(41073412_?)dup
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr) rs2136929850
NM_001843.4(CNTN1):c.1074del (p.Ile359fs) rs1592283787
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val) rs1451321171
NM_001843.4(CNTN1):c.1110+15G>A
NM_001843.4(CNTN1):c.1110+16T>G
NM_001843.4(CNTN1):c.1110+8T>A
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) rs770501938
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) rs1565989995
NM_001843.4(CNTN1):c.1228+10A>G
NM_001843.4(CNTN1):c.1228+8T>C
NM_001843.4(CNTN1):c.1230G>A (p.Ala410=) rs144896071
NM_001843.4(CNTN1):c.1239A>G (p.Pro413=) rs2136937686
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) rs1946186464
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr) rs1269192212
NM_001843.4(CNTN1):c.1275G>C (p.Leu425=) rs2136937864
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys) rs756198153
NM_001843.4(CNTN1):c.1294G>A (p.Val432Met) rs778897121
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu) rs748101740
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val) rs1945329610
NM_001843.4(CNTN1):c.132A>G (p.Glu44=) rs1555180046
NM_001843.4(CNTN1):c.1341A>G (p.Ser447=) rs1438177918
NM_001843.4(CNTN1):c.1356A>G (p.Thr452=) rs1946191080
NM_001843.4(CNTN1):c.1365T>G (p.Leu455=) rs1311329019
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu) rs1337032945
NM_001843.4(CNTN1):c.1398T>C (p.Asp466=)
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) rs1946336293
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del) rs2136950735
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) rs745586631
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)
NM_001843.4(CNTN1):c.1491A>T (p.Gly497=)
NM_001843.4(CNTN1):c.1507+10T>C
NM_001843.4(CNTN1):c.1507+15G>T
NM_001843.4(CNTN1):c.1507+17G>A
NM_001843.4(CNTN1):c.1508-13del
NM_001843.4(CNTN1):c.1508-16A>G rs1237102269
NM_001843.4(CNTN1):c.1508-4A>G
NM_001843.4(CNTN1):c.1508-5T>C rs1241567657
NM_001843.4(CNTN1):c.1508-6A>G
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) rs199754941
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) rs1167071121
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=) rs201595623
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)
NM_001843.4(CNTN1):c.1590T>C (p.Phe530=)
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys) rs1945330731
NM_001843.4(CNTN1):c.1615del (p.Val539fs) rs2136952659
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)
NM_001843.4(CNTN1):c.1641C>A (p.Ile547=)
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn) rs1805062496
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val) rs2136952998
NM_001843.4(CNTN1):c.1683+1G>A rs1555185778
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) rs747622764
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)
NM_001843.4(CNTN1):c.1719G>T (p.Ala573=)
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) rs770173257
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys) rs1286090767
NM_001843.4(CNTN1):c.1746A>G (p.Thr582=)
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val) rs2137007039
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val) rs555223029
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)
NM_001843.4(CNTN1):c.1804+13A>C
NM_001843.4(CNTN1):c.1804+16T>A
NM_001843.4(CNTN1):c.1804+5G>A
NM_001843.4(CNTN1):c.1804+7G>A rs751956205
NM_001843.4(CNTN1):c.1805-17C>T
NM_001843.4(CNTN1):c.1805-9354del rs544761896
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) rs1592357953
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) rs199886411
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser) rs1555193694
NM_001843.4(CNTN1):c.1932T>C (p.Ile644=) rs1396778570
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu) rs1947806765
NM_001843.4(CNTN1):c.1963+10_1963+13del rs1334889908
NM_001843.4(CNTN1):c.1964-15A>C
NM_001843.4(CNTN1):c.1964-17C>A
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser) rs2120504473
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser) rs1948132905
NM_001843.4(CNTN1):c.2016C>T (p.Ile672=)
NM_001843.4(CNTN1):c.201A>G (p.Ala67=) rs2136857289
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln) rs2136857338
NM_001843.4(CNTN1):c.2058A>G (p.Thr686=) rs1363409507
NM_001843.4(CNTN1):c.2076C>G (p.Pro692=) rs1236135316
NM_001843.4(CNTN1):c.2088T>C (p.Ser696=)
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)
NM_001843.4(CNTN1):c.2113+7A>G
NM_001843.4(CNTN1):c.2114-15del
NM_001843.4(CNTN1):c.2114-17T>G rs1555199184
NM_001843.4(CNTN1):c.2114-19A>G
NM_001843.4(CNTN1):c.2139A>G (p.Val713=)
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)
NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg)
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)
NM_001843.4(CNTN1):c.215dup (p.Val74fs) rs1565946117
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)
NM_001843.4(CNTN1):c.2169G>T (p.Leu723=)
NM_001843.4(CNTN1):c.216C>T (p.Phe72=)
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu) rs201782849
NM_001843.4(CNTN1):c.2184+15G>C
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=) rs764189993
NM_001843.4(CNTN1):c.2185-6A>G
NM_001843.4(CNTN1):c.219G>A (p.Pro73=) rs1162619112
NM_001843.4(CNTN1):c.21C>T (p.Val7=)
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu) rs1948790119
NM_001843.4(CNTN1):c.225C>T (p.Tyr75=) rs777370521
NM_001843.4(CNTN1):c.227+10C>T rs2136857621
NM_001843.4(CNTN1):c.227+12C>T
NM_001843.4(CNTN1):c.227+13G>A
NM_001843.4(CNTN1):c.227+20T>C
NM_001843.4(CNTN1):c.227+23dup rs2136857686
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg) rs1355732702
NM_001843.4(CNTN1):c.228-3_228-2del rs1945468731
NM_001843.4(CNTN1):c.228-5C>A rs1407187381
NM_001843.4(CNTN1):c.228-8del
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp) rs1555199605
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln) rs267603461
NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu)
NM_001843.4(CNTN1):c.2307T>C (p.His769=) rs2120747137
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp) rs2120747529
NM_001843.4(CNTN1):c.2367C>T (p.Asn789=)
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr) rs771483189
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val) rs1250582749
NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val)
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=)
NM_001843.4(CNTN1):c.2419+21_2419+23del rs762577839
NM_001843.4(CNTN1):c.2420-13C>T rs1037890294
NM_001843.4(CNTN1):c.2448T>C (p.Gly816=) rs775065519
NM_001843.4(CNTN1):c.2454A>G (p.Lys818=)
NM_001843.4(CNTN1):c.246G>C (p.Gly82=) rs765121768
NM_001843.4(CNTN1):c.2484T>C (p.His828=)
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly) rs780316987
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser) rs1205621429
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer) rs1592415275
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)
NM_001843.4(CNTN1):c.2523+5G>A
NM_001843.4(CNTN1):c.2524-16T>C
NM_001843.4(CNTN1):c.2524-9T>C
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val) rs2120816290
NM_001843.4(CNTN1):c.252T>A (p.Val84=) rs369941278
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His) rs781106271
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val) rs1390271155
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro) rs769577018
NM_001843.4(CNTN1):c.2595G>A (p.Ser865=) rs145714777
NM_001843.4(CNTN1):c.2597_2710+7delinsTT rs2120818344
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly) rs1945470430
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs) rs2120819481
NM_001843.4(CNTN1):c.2664G>T (p.Gly888=)
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu) rs1253543758
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
NM_001843.4(CNTN1):c.2694T>C (p.Ala898=) rs1555200914
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)
NM_001843.4(CNTN1):c.2710+12G>A
NM_001843.4(CNTN1):c.2710+20T>C
NM_001843.4(CNTN1):c.2711-11A>G
NM_001843.4(CNTN1):c.2711-19A>G
NM_001843.4(CNTN1):c.2712T>C (p.Pro904=)
NM_001843.4(CNTN1):c.2721G>A (p.Gln907=) rs770540367
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)
NM_001843.4(CNTN1):c.2727A>C (p.Pro909=)
NM_001843.4(CNTN1):c.2730G>A (p.Arg910=)
NM_001843.4(CNTN1):c.2751T>C (p.Ser917=)
NM_001843.4(CNTN1):c.2754T>A (p.Gly918=)
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)
NM_001843.4(CNTN1):c.2769C>T (p.Ile923=)
NM_001843.4(CNTN1):c.2772C>G (p.Thr924=)
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter) rs1555201269
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val) rs1248588484
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)
NM_001843.4(CNTN1):c.2823+18T>C
NM_001843.4(CNTN1):c.2824-15T>A
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)
NM_001843.4(CNTN1):c.2880C>T (p.His960=) rs2120850668
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly) rs1592428509
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter) rs1555201480
NM_001843.4(CNTN1):c.2928T>C (p.Val976=) rs1949093067
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)
NM_001843.4(CNTN1):c.2980+7G>A rs969185163
NM_001843.4(CNTN1):c.2981-12T>C
NM_001843.4(CNTN1):c.2981-18T>C rs2121173098
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu) rs768617895
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala) rs2121173738
NM_001843.4(CNTN1):c.3054C>T (p.Phe1018=)
NM_001843.4(CNTN1):c.342T>C (p.Cys114=) rs1555180947
NM_001843.4(CNTN1):c.348A>G (p.Ala116=) rs1945474469
NM_001843.4(CNTN1):c.401-14del rs148387796
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr) rs145406782
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro) rs758820625
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)
NM_001843.4(CNTN1):c.438C>T (p.Val146=)
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val) rs1944915906
NM_001843.4(CNTN1):c.441A>G (p.Arg147=)
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)
NM_001843.4(CNTN1):c.480C>G (p.Pro160=)
NM_001843.4(CNTN1):c.480C>T (p.Pro160=)
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)
NM_001843.4(CNTN1):c.496+20_496+23del
NM_001843.4(CNTN1):c.497-16C>T
NM_001843.4(CNTN1):c.497-19A>T
NM_001843.4(CNTN1):c.497-4C>T rs772846701
NM_001843.4(CNTN1):c.497-7C>A rs2136906588
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn) rs1285012875
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu) rs201037986
NM_001843.4(CNTN1):c.56T>C (p.Leu19Ser)
NM_001843.4(CNTN1):c.573G>A (p.Gln191=)
NM_001843.4(CNTN1):c.61+11T>G
NM_001843.4(CNTN1):c.612C>G (p.Ser204=) rs146088900
NM_001843.4(CNTN1):c.612C>T (p.Ser204=) rs146088900
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)
NM_001843.4(CNTN1):c.62-15T>C
NM_001843.4(CNTN1):c.621C>A (p.Gly207=)
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly) rs2136817438
NM_001843.4(CNTN1):c.62del (p.Glu21fs) rs2136817458
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) rs1555182848
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu) rs868602241
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) rs763560467
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala) rs1945827865
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)
NM_001843.4(CNTN1):c.704-11C>G rs375008317
NM_001843.4(CNTN1):c.704-1G>A
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)
NM_001843.4(CNTN1):c.720T>C (p.Tyr240=)
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr) rs758956439
NM_001843.4(CNTN1):c.735A>T (p.Val245=) rs1592279006
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile) rs2136919426
NM_001843.4(CNTN1):c.756T>C (p.Tyr252=)
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp) rs1592279096
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)
NM_001843.4(CNTN1):c.771A>G (p.Gln257=) rs2136919555
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys) rs1945970839
NM_001843.4(CNTN1):c.775G>A (p.Val259Met) rs1945970944
NM_001843.4(CNTN1):c.803+14C>T
NM_001843.4(CNTN1):c.803+7A>G rs2136919672
NM_001843.4(CNTN1):c.803+9A>T rs1945971858
NM_001843.4(CNTN1):c.804-13C>G rs2136920108
NM_001843.4(CNTN1):c.804-7T>C
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) rs1158555477
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His) rs2136817543
NM_001843.4(CNTN1):c.858T>A (p.Ala286=) rs1945980419
NM_001843.4(CNTN1):c.871dup (p.Ser291fs) rs587776718
NM_001843.4(CNTN1):c.882T>A (p.Val294=)
NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro) rs548330075
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) rs1487254662
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala) rs1283320182
NM_001843.4(CNTN1):c.918C>T (p.Gly306=) rs746551405
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) rs756830197
NM_001843.4(CNTN1):c.94+15G>C rs1944974270
NM_001843.4(CNTN1):c.94+2T>C
NM_001843.4(CNTN1):c.94+4A>G
NM_001843.4(CNTN1):c.946A>C (p.Arg316=)
NM_001843.4(CNTN1):c.95-5T>C
NM_001843.4(CNTN1):c.95-7C>A rs1362923481
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu) rs1945984350
NM_001843.4(CNTN1):c.986-16G>C rs1240741402

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